Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 29085 deletion NM_001271208.1(NEB):c.22746delG (p.Met7582Ilefs) 1057515573 MedGen:C1850569,OMIM:256030 2 152375533 152375533 C - 29085 deletion NM_001271208.1(NEB):c.22746delG (p.Met7582Ilefs) 1057515573 MedGen:C1850569,OMIM:256030 2 151519019 151519019 C - 29086 duplication NM_001271208.1(NEB):c.23500_23503dupGTTT (p.Leu7835Cysfs) 1057515574 MedGen:C1850569,OMIM:256030 2 152364572 152364575 AAAC AAACAAAC 29086 duplication NM_001271208.1(NEB):c.23500_23503dupGTTT (p.Leu7835Cysfs) 1057515574 MedGen:C1850569,OMIM:256030 2 151508058 151508061 AAAC AAACAAAC 29087 deletion NEB, 2-BP DEL, AG, EX172 -1 MedGen:C1850569,OMIM:256030 na -1 -1 na na 29088 deletion NEB, 2-BP DEL, GA, EX181 -1 MedGen:C1850569,OMIM:256030 na -1 -1 na na 29089 single nucleotide variant NM_001271208.1(NEB):c.25279G>T (p.Glu8427Ter) 121913662 MedGen:C1850569,OMIM:256030 2 152347009 152347009 C A 29089 single nucleotide variant NM_001271208.1(NEB):c.25279G>T (p.Glu8427Ter) 121913662 MedGen:C1850569,OMIM:256030 2 151490495 151490495 C A 29090 single nucleotide variant NM_001271208.1(NEB):c.22584+1G>C 1057515575 MedGen:C1850569,OMIM:256030 2 152380824 152380824 C G 29090 single nucleotide variant NM_001271208.1(NEB):c.22584+1G>C 1057515575 MedGen:C1850569,OMIM:256030 2 151524310 151524310 C G 29091 deletion NM_004543.4(NEB):c.7432-2025_7536+372del2502 80358246 MedGen:C1850569,OMIM:256030 2 152502272 152504773 na na 29091 deletion NM_004543.4(NEB):c.7432-2025_7536+372del2502 80358246 MedGen:C1850569,OMIM:256030 2 151645758 151648259 na na 85033 single nucleotide variant NM_004543.4(NEB):c.4834C>T (p.Arg1612Cys) 200545007 MedGen:CN239479 2 152522801 152522801 G A 85033 single nucleotide variant NM_004543.4(NEB):c.4834C>T (p.Arg1612Cys) 200545007 MedGen:CN239479 2 151666287 151666287 G A 85033 single nucleotide variant NM_004543.4(NEB):c.4834C>T (p.Arg1612Cys) 200545007 MedGen:CN239479 2 152231047 152231047 G A 101002 single nucleotide variant NM_004543.4(NEB):c.10080G>C (p.Trp3360Cys) 10172023 MedGen:CN239479;MedGen:CN169374 2 152476028 152476028 C G 101002 single nucleotide variant NM_004543.4(NEB):c.10080G>C (p.Trp3360Cys) 10172023 MedGen:CN239479;MedGen:CN169374 2 151619514 151619514 C G 101003 single nucleotide variant NM_001271208.1(NEB):c.12147G>A (p.Lys4049=) 149639365 MedGen:CN169374 2 152466506 152466506 C T 101003 single nucleotide variant NM_001271208.1(NEB):c.12147G>A (p.Lys4049=) 149639365 MedGen:CN169374 2 151609992 151609992 C T 101004 single nucleotide variant NM_001271208.1(NEB):c.1152+1G>A 398124167 MedGen:C1850569,OMIM:256030;MedGen:CN221809 2 152563394 152563394 C T 101004 single nucleotide variant NM_001271208.1(NEB):c.1152+1G>A 398124167 MedGen:C1850569,OMIM:256030;MedGen:CN221809 2 151706880 151706880 C T 101005 single nucleotide variant NM_001271208.1(NEB):c.16705-18C>T 61254943 MedGen:CN169374 2 152432886 152432886 G A 101005 single nucleotide variant NM_001271208.1(NEB):c.16705-18C>T 61254943 MedGen:CN169374 2 151576372 151576372 G A 101006 single nucleotide variant NM_004543.4(NEB):c.11808A>G (p.Pro3936=) 33988153 MedGen:CN239479;MedGen:CN169374 2 152432311 152432311 T C 101006 single nucleotide variant NM_004543.4(NEB):c.11808A>G (p.Pro3936=) 33988153 MedGen:CN239479;MedGen:CN169374 2 151575797 151575797 T C 101007 single nucleotide variant NM_004543.4(NEB):c.12C>T (p.Asp4=) 117178114 MedGen:CN239479;MedGen:CN169374 2 152589659 152589659 G A 101007 single nucleotide variant NM_004543.4(NEB):c.12C>T (p.Asp4=) 117178114 MedGen:CN239479;MedGen:CN169374 2 151733145 151733145 G A 101008 single nucleotide variant NM_004543.4(NEB):c.13191T>C (p.Tyr4397=) 2288211 MedGen:CN239479;MedGen:CN169374 2 152422087 152422087 A G 101008 single nucleotide variant NM_004543.4(NEB):c.13191T>C (p.Tyr4397=) 2288211 MedGen:CN239479;MedGen:CN169374 2 151565573 151565573 A G 101009 single nucleotide variant NM_004543.4(NEB):c.13202G>C (p.Arg4401Thr) 2288210 MedGen:CN239479;MedGen:CN169374 2 152422076 152422076 C G 101009 single nucleotide variant NM_004543.4(NEB):c.13202G>C (p.Arg4401Thr) 2288210 MedGen:CN239479;MedGen:CN169374 2 151565562 151565562 C G 101010 single nucleotide variant NM_001271208.1(NEB):c.19455G>A (p.Lys6485=) 182847302 MedGen:CN239479;MedGen:CN169374 2 152410513 152410513 C T 101010 single nucleotide variant NM_001271208.1(NEB):c.19455G>A (p.Lys6485=) 182847302 MedGen:CN239479;MedGen:CN169374 2 151553999 151553999 C T 101011 single nucleotide variant NM_004543.4(NEB):c.15364-4T>A 199791504 MedGen:CN239479;MedGen:CN169374 2 152402516 152402516 A T 101011 single nucleotide variant NM_004543.4(NEB):c.15364-4T>A 199791504 MedGen:CN239479;MedGen:CN169374 2 151546002 151546002 A T 101012 deletion NM_001271208.1(NEB):c.21523-6delA 56026241 MedGen:CN239479;MedGen:CN169374 2 152388416 152388416 T - 101012 deletion NM_001271208.1(NEB):c.21523-6delA 56026241 MedGen:CN239479;MedGen:CN169374 2 151531902 151531902 T - 101013 single nucleotide variant NM_004543.4(NEB):c.16443C>T (p.Asn5481=) 149510427 MedGen:CN239479;MedGen:CN169374 2 152387592 152387592 G A 101013 single nucleotide variant NM_004543.4(NEB):c.16443C>T (p.Asn5481=) 149510427 MedGen:CN239479;MedGen:CN169374 2 151531078 151531078 G A 101014 single nucleotide variant NM_004543.4(NEB):c.16482A>G (p.Thr5494=) 4664475 MedGen:CN239479;MedGen:CN169374 2 152387553 152387553 T C 101014 single nucleotide variant NM_004543.4(NEB):c.16482A>G (p.Thr5494=) 4664475 MedGen:CN239479;MedGen:CN169374 2 151531039 151531039 T C 101015 deletion NM_001271208.1(NEB):c.169_183delCTGGCACAGCCAGCA (p.Leu57_Ala61del) 377452683 MedGen:CN169374 2 152584316 152584330 TGCTGGCTGTGCCAG - 101015 deletion NM_001271208.1(NEB):c.169_183delCTGGCACAGCCAGCA (p.Leu57_Ala61del) 377452683 MedGen:CN169374 2 151727802 151727816 TGCTGGCTGTGCCAG - 101016 single nucleotide variant NM_001271208.1(NEB):c.22266+18G>C 6721666 MedGen:CN169374 2 152382454 152382454 C G 101016 single nucleotide variant NM_001271208.1(NEB):c.22266+18G>C 6721666 MedGen:CN169374 2 151525940 151525940 C G 101017 deletion NM_001271208.1(NEB):c.1782+4_1782+5del 398124168 MedGen:CN169374 2 152551031 152551032 CT - 101017 deletion NM_001271208.1(NEB):c.1782+4_1782+5del 398124168 MedGen:CN169374 2 151694517 151694518 CT - 101018 single nucleotide variant NM_001271208.1(NEB):c.23383A>G (p.Asn7795Asp) 201189784 MedGen:CN169374 2 152369315 152369315 T C 101018 single nucleotide variant NM_001271208.1(NEB):c.23383A>G (p.Asn7795Asp) 201189784 MedGen:CN169374 2 151512801 151512801 T C 101019 single nucleotide variant NM_001271208.1(NEB):c.23753C>T (p.Ser7918Leu) 202191938 MedGen:CN169374 2 152362681 152362681 G A 101019 single nucleotide variant NM_001271208.1(NEB):c.23753C>T (p.Ser7918Leu) 202191938 MedGen:CN169374 2 151506167 151506167 G A 101020 single nucleotide variant NM_004543.4(NEB):c.18865G>C (p.Ala6289Pro) 7575451 MedGen:CN239479;MedGen:CN169374 2 152352843 152352843 C G 101020 single nucleotide variant NM_004543.4(NEB):c.18865G>C (p.Ala6289Pro) 7575451 MedGen:CN239479;MedGen:CN169374 2 151496329 151496329 C G 101021 single nucleotide variant NM_001271208.1(NEB):c.24614G>A (p.Gly8205Glu) 398124169 MedGen:CN169374 2 152350745 152350745 C T 101021 single nucleotide variant NM_001271208.1(NEB):c.24614G>A (p.Gly8205Glu) 398124169 MedGen:CN169374 2 151494231 151494231 C T 101022 single nucleotide variant NM_001271208.1(NEB):c.24871-18C>T 2288195 MedGen:CN169374 2 152349026 152349026 G A 101022 single nucleotide variant NM_001271208.1(NEB):c.24871-18C>T 2288195 MedGen:CN169374 2 151492512 151492512 G A 101023 single nucleotide variant NM_001271208.1(NEB):c.25140C>T (p.Asp8380=) 201825451 MedGen:CN239479;MedGen:CN169374 2 152348634 152348634 G A 101023 single nucleotide variant NM_001271208.1(NEB):c.25140C>T (p.Asp8380=) 201825451 MedGen:CN239479;MedGen:CN169374 2 151492120 151492120 G A 101024 single nucleotide variant NM_004543.4(NEB):c.19470A>G (p.Gln6490=) 184319249 MedGen:CN239479;MedGen:CN169374 2 152348631 152348631 T C 101024 single nucleotide variant NM_004543.4(NEB):c.19470A>G (p.Gln6490=) 184319249 MedGen:CN239479;MedGen:CN169374 2 151492117 151492117 T C 101025 single nucleotide variant NM_001271208.1(NEB):c.195G>A (p.Pro65=) 79524813 MedGen:CN239479;MedGen:CN169374 2 152584304 152584304 C T 101025 single nucleotide variant NM_001271208.1(NEB):c.195G>A (p.Pro65=) 79524813 MedGen:CN239479;MedGen:CN169374 2 151727790 151727790 C T 101026 single nucleotide variant NM_004543.4(NEB):c.19636A>G (p.Ile6546Val) 1061305 MedGen:CN239479;MedGen:CN169374 2 152346979 152346979 T C 101026 single nucleotide variant NM_004543.4(NEB):c.19636A>G (p.Ile6546Val) 1061305 MedGen:CN239479;MedGen:CN169374 2 151490465 151490465 T C 101027 single nucleotide variant NM_001271208.1(NEB):c.2943G>A (p.Glu981=) 398124170 MedGen:CN169374 2 152539176 152539176 C T 101027 single nucleotide variant NM_001271208.1(NEB):c.2943G>A (p.Glu981=) 398124170 MedGen:CN169374 2 151682662 151682662 C T 101028 single nucleotide variant NM_004543.4(NEB):c.3081A>T (p.Lys1027Asn) 6735208 MedGen:CN239479;MedGen:CN169374 2 152536498 152536498 T A 101028 single nucleotide variant NM_004543.4(NEB):c.3081A>T (p.Lys1027Asn) 6735208 MedGen:CN239479;MedGen:CN169374 2 151679984 151679984 T A 101029 single nucleotide variant NM_004543.4(NEB):c.3191A>G (p.Tyr1064Cys) 187343008 MedGen:CN169374 2 152536299 152536299 T C 101029 single nucleotide variant NM_004543.4(NEB):c.3191A>G (p.Tyr1064Cys) 187343008 MedGen:CN169374 2 151679785 151679785 T C 101030 single nucleotide variant NM_001271208.1(NEB):c.4018A>C (p.Lys1340Gln) 398124171 MedGen:CN169374 2 152529164 152529164 T G 101030 single nucleotide variant NM_001271208.1(NEB):c.4018A>C (p.Lys1340Gln) 398124171 MedGen:CN169374 2 151672650 151672650 T G 101031 single nucleotide variant NM_004543.4(NEB):c.4471G>A (p.Val1491Met) 7426114 MedGen:CN239479;MedGen:CN169374 2 152527572 152527572 C T 101031 single nucleotide variant NM_004543.4(NEB):c.4471G>A (p.Val1491Met) 7426114 MedGen:CN239479;MedGen:CN169374 2 151671058 151671058 C T 101032 single nucleotide variant NM_004543.4(NEB):c.4649A>G (p.Lys1550Arg) 114089598 MedGen:CN239479;MedGen:CN169374 2 152524388 152524388 T C 101032 single nucleotide variant NM_004543.4(NEB):c.4649A>G (p.Lys1550Arg) 114089598 MedGen:CN239479;MedGen:CN169374 2 151667874 151667874 T C 101033 single nucleotide variant NM_001271208.1(NEB):c.6069G>A (p.Met2023Ile) 184262608 MedGen:CN169374 2 152515585 152515585 C T 101033 single nucleotide variant NM_001271208.1(NEB):c.6069G>A (p.Met2023Ile) 184262608 MedGen:CN169374 2 151659071 151659071 C T 101034 single nucleotide variant NM_004543.4(NEB):c.7310G>A (p.Arg2437Gln) 61730780 MedGen:CN239479;MedGen:CN169374 2 152506811 152506811 C T 101034 single nucleotide variant NM_004543.4(NEB):c.7310G>A (p.Arg2437Gln) 61730780 MedGen:CN239479;MedGen:CN169374 2 151650297 151650297 C T 101035 single nucleotide variant NM_001271208.1(NEB):c.7514C>A (p.Ala2505Glu) 35292878 MedGen:CN239479;MedGen:CN169374 2 152502666 152502666 G T 101035 single nucleotide variant NM_001271208.1(NEB):c.7514C>A (p.Ala2505Glu) 35292878 MedGen:CN239479;MedGen:CN169374 2 151646152 151646152 G T 101036 single nucleotide variant NM_004543.4(NEB):c.771T>C (p.Ala257=) 4611637 MedGen:CN239479;MedGen:CN169374 2 152573981 152573981 A G 101036 single nucleotide variant NM_004543.4(NEB):c.771T>C (p.Ala257=) 4611637 MedGen:CN239479;MedGen:CN169374 2 151717467 151717467 A G 101037 single nucleotide variant NM_004543.4(NEB):c.7839G>C (p.Lys2613Asn) 13013209 MedGen:CN239479;MedGen:CN169374 2 152500449 152500449 C G 101037 single nucleotide variant NM_004543.4(NEB):c.7839G>C (p.Lys2613Asn) 13013209 MedGen:CN239479;MedGen:CN169374 2 151643935 151643935 C G 101038 deletion NM_001271208.1(NEB):c.8031_8041delAAATAAACGAG (p.Lys2677Asnfs) 398124172 MedGen:C1850569,OMIM:256030;MedGen:CN221809 2 152499783 152499793 CTCGTTTATTT - 101038 deletion NM_001271208.1(NEB):c.8031_8041delAAATAAACGAG (p.Lys2677Asnfs) 398124172 MedGen:C1850569,OMIM:256030;MedGen:CN221809 2 151643269 151643279 CTCGTTTATTT - 101039 single nucleotide variant NM_001271208.1(NEB):c.8072G>A (p.Arg2691His) 35555631 MedGen:CN169374 2 152499752 152499752 C T 101039 single nucleotide variant NM_001271208.1(NEB):c.8072G>A (p.Arg2691His) 35555631 MedGen:CN169374 2 151643238 151643238 C T 101040 single nucleotide variant NM_001271208.1(NEB):c.8353T>C (p.Ser2785Pro) 398124173 MedGen:CN169374 2 152499108 152499108 A G 101040 single nucleotide variant NM_001271208.1(NEB):c.8353T>C (p.Ser2785Pro) 398124173 MedGen:CN169374 2 151642594 151642594 A G 101041 single nucleotide variant NM_004543.4(NEB):c.9136G>A (p.Gly3046Ser) 75639119 MedGen:CN239479;MedGen:CN169374 2 152484315 152484315 C T 101041 single nucleotide variant NM_004543.4(NEB):c.9136G>A (p.Gly3046Ser) 75639119 MedGen:CN239479;MedGen:CN169374 2 151627801 151627801 C T 135150 indel NM_001271208.1(NEB):c.19712_19716delCTTATinsGAG (p.Ala6571Glyfs) 587780397 MedGen:CN187052 2 152409927 152409931 ATAAG CTC 135150 indel NM_001271208.1(NEB):c.19712_19716delCTTATinsGAG (p.Ala6571Glyfs) 587780397 MedGen:CN187052 2 151553413 151553417 ATAAG CTC 135151 single nucleotide variant NM_004543.4(NEB):c.10015G>A (p.Val3339Ile) 139798654 MedGen:CN239479;MedGen:CN221809;MedGen:CN169374 2 152476093 152476093 C T 135151 single nucleotide variant NM_004543.4(NEB):c.10015G>A (p.Val3339Ile) 139798654 MedGen:CN239479;MedGen:CN221809;MedGen:CN169374 2 151619579 151619579 C T 135152 single nucleotide variant NM_004543.4(NEB):c.10419G>C (p.Met3473Ile) 149025191 MedGen:CN239479;MedGen:CN169374 2 152473911 152473911 C G 135152 single nucleotide variant NM_004543.4(NEB):c.10419G>C (p.Met3473Ile) 149025191 MedGen:CN239479;MedGen:CN169374 2 151617397 151617397 C G 135153 single nucleotide variant NM_004543.4(NEB):c.11000A>G (p.Asp3667Gly) 35740585 MedGen:CN169374 2 152468776 152468776 T C 135153 single nucleotide variant NM_004543.4(NEB):c.11000A>G (p.Asp3667Gly) 35740585 MedGen:CN169374 2 151612262 151612262 T C 135154 single nucleotide variant NM_004543.4(NEB):c.11040T>C (p.Ile3680=) 80320923 MedGen:CN169374 2 152468736 152468736 A G 135154 single nucleotide variant NM_004543.4(NEB):c.11040T>C (p.Ile3680=) 80320923 MedGen:CN169374 2 151612222 151612222 A G 135155 single nucleotide variant NM_004543.4(NEB):c.11518C>T (p.Arg3840Cys) 368383341 MedGen:CN221809 2 152466406 152466406 G A 135155 single nucleotide variant NM_004543.4(NEB):c.11518C>T (p.Arg3840Cys) 368383341 MedGen:CN221809 2 151609892 151609892 G A 135156 single nucleotide variant NM_004543.4(NEB):c.11659T>A (p.Ser3887Thr) 35227368 MedGen:CN239479;MedGen:CN169374 2 152432811 152432811 A T 135156 single nucleotide variant NM_004543.4(NEB):c.11659T>A (p.Ser3887Thr) 35227368 MedGen:CN239479;MedGen:CN169374 2 151576297 151576297 A T 135157 single nucleotide variant NM_004543.4(NEB):c.11921G>T (p.Arg3974Leu) 373850451 MedGen:CN221809 2 152427105 152427105 C A 135157 single nucleotide variant NM_004543.4(NEB):c.11921G>T (p.Arg3974Leu) 373850451 MedGen:CN221809 2 151570591 151570591 C A 135158 single nucleotide variant NM_004543.4(NEB):c.13010A>G (p.Asn4337Ser) 16830236 MedGen:CN169374 2 152423725 152423725 T C 135158 single nucleotide variant NM_004543.4(NEB):c.13010A>G (p.Asn4337Ser) 16830236 MedGen:CN169374 2 151567211 151567211 T C 135159 single nucleotide variant NM_004543.4(NEB):c.13452G>A (p.Lys4484=) 145252235 MedGen:CN239479;MedGen:CN169374 2 152420361 152420361 C T 135159 single nucleotide variant NM_004543.4(NEB):c.13452G>A (p.Lys4484=) 145252235 MedGen:CN239479;MedGen:CN169374 2 151563847 151563847 C T 135160 single nucleotide variant NM_004543.4(NEB):c.13590G>C (p.Ala4530=) 141338915 MedGen:CN239479;MedGen:CN169374 2 152420120 152420120 C G 135160 single nucleotide variant NM_004543.4(NEB):c.13590G>C (p.Ala4530=) 141338915 MedGen:CN239479;MedGen:CN169374 2 151563606 151563606 C G 135161 single nucleotide variant NM_004543.4(NEB):c.13894-10T>C 4544436 MedGen:CN239479;MedGen:CN169374 2 152417836 152417836 A G 135161 single nucleotide variant NM_004543.4(NEB):c.13894-10T>C 4544436 MedGen:CN239479;MedGen:CN169374 2 151561322 151561322 A G 135162 single nucleotide variant NM_004543.4(NEB):c.13953G>T (p.Thr4651=) 115631125 MedGen:CN239479;MedGen:CN169374 2 152417767 152417767 C A 135162 single nucleotide variant NM_004543.4(NEB):c.13953G>T (p.Thr4651=) 115631125 MedGen:CN239479;MedGen:CN169374 2 151561253 151561253 C A 135163 single nucleotide variant NM_004543.4(NEB):c.13999-6C>T 145127681 MedGen:CN239479;MedGen:CN169374 2 152417628 152417628 G A 135163 single nucleotide variant NM_004543.4(NEB):c.13999-6C>T 145127681 MedGen:CN239479;MedGen:CN169374 2 151561114 151561114 G A 135164 single nucleotide variant NM_004543.4(NEB):c.14208C>T (p.Ser4736=) 16830216 MedGen:CN239479;MedGen:CN169374 2 152417109 152417109 G A 135164 single nucleotide variant NM_004543.4(NEB):c.14208C>T (p.Ser4736=) 16830216 MedGen:CN239479;MedGen:CN169374 2 151560595 151560595 G A 135165 single nucleotide variant NM_004543.4(NEB):c.14629-6C>T 11894996 MedGen:CN239479;MedGen:CN169374 2 152409296 152409296 G A 135165 single nucleotide variant NM_004543.4(NEB):c.14629-6C>T 11894996 MedGen:CN239479;MedGen:CN169374 2 151552782 151552782 G A 135166 single nucleotide variant NM_004543.4(NEB):c.14975C>T (p.Thr4992Ile) 35707762 MedGen:CN169374 2 152404901 152404901 G A 135166 single nucleotide variant NM_004543.4(NEB):c.14975C>T (p.Thr4992Ile) 35707762 MedGen:CN169374 2 151548387 151548387 G A 135167 single nucleotide variant NM_004543.4(NEB):c.15089A>T (p.Asp5030Val) 2288200 MedGen:CN239479;MedGen:CN169374 2 152404218 152404218 T A 135167 single nucleotide variant NM_004543.4(NEB):c.15089A>T (p.Asp5030Val) 2288200 MedGen:CN239479;MedGen:CN169374 2 151547704 151547704 T A 135168 single nucleotide variant NM_004543.4(NEB):c.15495C>G (p.Gly5165=) 16830192 MedGen:CN239479;MedGen:CN169374 2 152398045 152398045 G C 135168 single nucleotide variant NM_004543.4(NEB):c.15495C>G (p.Gly5165=) 16830192 MedGen:CN239479;MedGen:CN169374 2 151541531 151541531 G C 135169 single nucleotide variant NM_004543.4(NEB):c.15663C>T (p.Asp5221=) 34555492 MedGen:CN239479;MedGen:CN169374 2 152397232 152397232 G A 135169 single nucleotide variant NM_004543.4(NEB):c.15663C>T (p.Asp5221=) 34555492 MedGen:CN239479;MedGen:CN169374 2 151540718 151540718 G A 135170 single nucleotide variant NM_004543.4(NEB):c.15941C>G (p.Ser5314Cys) 62167164 MedGen:CN239479;MedGen:CN169374 2 152394444 152394444 G C 135170 single nucleotide variant NM_004543.4(NEB):c.15941C>G (p.Ser5314Cys) 62167164 MedGen:CN239479;MedGen:CN169374 2 151537930 151537930 G C 135171 single nucleotide variant NM_004543.4(NEB):c.16416C>T (p.Ser5472=) 16830170 MedGen:CN239479;MedGen:CN169374 2 152388309 152388309 G A 135171 single nucleotide variant NM_004543.4(NEB):c.16416C>T (p.Ser5472=) 16830170 MedGen:CN239479;MedGen:CN169374 2 151531795 151531795 G A 135172 single nucleotide variant NM_004543.4(NEB):c.16617C>T (p.Tyr5539=) 34718443 MedGen:CN239479;MedGen:CN169374 2 152385739 152385739 G A 135172 single nucleotide variant NM_004543.4(NEB):c.16617C>T (p.Tyr5539=) 34718443 MedGen:CN239479;MedGen:CN169374 2 151529225 151529225 G A 135173 single nucleotide variant NM_004543.4(NEB):c.1675-9T>G 75118047 MedGen:CN239479;MedGen:CN169374 2 152551152 152551152 A C 135173 single nucleotide variant NM_004543.4(NEB):c.1675-9T>G 75118047 MedGen:CN239479;MedGen:CN169374 2 151694638 151694638 A C 135174 single nucleotide variant NM_004543.4(NEB):c.16753G>A (p.Asp5585Asn) 35625617 MedGen:CN239479;MedGen:CN169374 2 152383521 152383521 C T 135174 single nucleotide variant NM_004543.4(NEB):c.16753G>A (p.Asp5585Asn) 35625617 MedGen:CN239479;MedGen:CN169374 2 151527007 151527007 C T 135175 single nucleotide variant NM_004543.4(NEB):c.16860A>G (p.Lys5620=) 61730765 MedGen:CN239479;MedGen:CN169374 2 152382759 152382759 T C 135175 single nucleotide variant NM_004543.4(NEB):c.16860A>G (p.Lys5620=) 61730765 MedGen:CN239479;MedGen:CN169374 2 151526245 151526245 T C 135176 single nucleotide variant NM_004543.4(NEB):c.17325C>T (p.Leu5775=) 371431256 MedGen:CN169374 2 152380876 152380876 G A 135176 single nucleotide variant NM_004543.4(NEB):c.17325C>T (p.Leu5775=) 371431256 MedGen:CN169374 2 151524362 151524362 G A 135177 single nucleotide variant NM_004543.4(NEB):c.17329C>T (p.Arg5777Cys) 202050860 MedGen:CN221809 2 152380872 152380872 G A 135177 single nucleotide variant NM_004543.4(NEB):c.17329C>T (p.Arg5777Cys) 202050860 MedGen:CN221809 2 151524358 151524358 G A 135178 single nucleotide variant NM_004543.4(NEB):c.18278C>T (p.Ser6093Leu) 41270201 MedGen:CN239479;MedGen:CN169374 2 152364589 152364589 G A 135178 single nucleotide variant NM_004543.4(NEB):c.18278C>T (p.Ser6093Leu) 41270201 MedGen:CN239479;MedGen:CN169374 2 151508075 151508075 G A 135179 single nucleotide variant NM_004543.4(NEB):c.18392C>T (p.Thr6131Ile) 34368668 MedGen:CN169374 2 152363484 152363484 G A 135179 single nucleotide variant NM_004543.4(NEB):c.18392C>T (p.Thr6131Ile) 34368668 MedGen:CN169374 2 151506970 151506970 G A 135180 single nucleotide variant NM_004543.4(NEB):c.18408G>A (p.Thr6136=) 35808744 MedGen:CN169374 2 152363468 152363468 C T 135180 single nucleotide variant NM_004543.4(NEB):c.18408G>A (p.Thr6136=) 35808744 MedGen:CN169374 2 151506954 151506954 C T 135181 single nucleotide variant NM_004543.4(NEB):c.19827T>G (p.Ser6609=) 13031275 MedGen:CN239479;MedGen:CN169374 2 152346494 152346494 A C 135181 single nucleotide variant NM_004543.4(NEB):c.19827T>G (p.Ser6609=) 13031275 MedGen:CN239479;MedGen:CN169374 2 151489980 151489980 A C 135182 single nucleotide variant NM_004543.4(NEB):c.244A>G (p.Met82Val) 587780398 MedGen:CN221809 2 152584255 152584255 T C 135182 single nucleotide variant NM_004543.4(NEB):c.244A>G (p.Met82Val) 587780398 MedGen:CN221809 2 151727741 151727741 T C 135183 single nucleotide variant NM_004543.4(NEB):c.2640C>T (p.Arg880=) 114959904 MedGen:CN169374 2 152541487 152541487 G A 135183 single nucleotide variant NM_004543.4(NEB):c.2640C>T (p.Arg880=) 114959904 MedGen:CN169374 2 151684973 151684973 G A 135184 single nucleotide variant NM_004543.4(NEB):c.2944-9G>A 13427102 MedGen:CN239479;MedGen:CN169374 2 152537351 152537351 C T 135184 single nucleotide variant NM_004543.4(NEB):c.2944-9G>A 13427102 MedGen:CN239479;MedGen:CN169374 2 151680837 151680837 C T 135185 single nucleotide variant NM_004543.4(NEB):c.3147+5G>A 74859201 MedGen:CN169374 2 152536427 152536427 C T 135185 single nucleotide variant NM_004543.4(NEB):c.3147+5G>A 74859201 MedGen:CN169374 2 151679913 151679913 C T 135186 single nucleotide variant NM_004543.4(NEB):c.3412A>G (p.Asn1138Asp) 117048449 MedGen:CN239479;MedGen:CN169374 2 152534545 152534545 T C 135186 single nucleotide variant NM_004543.4(NEB):c.3412A>G (p.Asn1138Asp) 117048449 MedGen:CN239479;MedGen:CN169374 2 151678031 151678031 T C 135187 single nucleotide variant NM_004543.4(NEB):c.3567+1G>A 587780399 MedGen:CN187052 2 152534389 152534389 C T 135187 single nucleotide variant NM_004543.4(NEB):c.3567+1G>A 587780399 MedGen:CN187052 2 151677875 151677875 C T 135188 single nucleotide variant NM_004543.4(NEB):c.3775-6T>C 80232472 MedGen:CN239479;MedGen:CN169374 2 152531911 152531911 A G 135188 single nucleotide variant NM_004543.4(NEB):c.3775-6T>C 80232472 MedGen:CN239479;MedGen:CN169374 2 151675397 151675397 A G 135189 single nucleotide variant NM_004543.4(NEB):c.4407G>C (p.Glu1469Asp) 34800215 MedGen:CN239479;MedGen:CN169374 2 152527636 152527636 C G 135189 single nucleotide variant NM_004543.4(NEB):c.4407G>C (p.Glu1469Asp) 34800215 MedGen:CN239479;MedGen:CN169374 2 151671122 151671122 C G 135190 single nucleotide variant NM_004543.4(NEB):c.4435G>A (p.Val1479Ile) 34577613 MedGen:CN239479;MedGen:CN169374 2 152527608 152527608 C T 135190 single nucleotide variant NM_004543.4(NEB):c.4435G>A (p.Val1479Ile) 34577613 MedGen:CN239479;MedGen:CN169374 2 151671094 151671094 C T 135191 single nucleotide variant NM_004543.4(NEB):c.5102T>C (p.Val1701Ala) 117271684 MedGen:CN239479;MedGen:CN169374 2 152521983 152521983 A G 135191 single nucleotide variant NM_004543.4(NEB):c.5102T>C (p.Val1701Ala) 117271684 MedGen:CN239479;MedGen:CN169374 2 151665469 151665469 A G 135192 single nucleotide variant NM_004543.4(NEB):c.5370G>A (p.Glu1790=) 10170273 MedGen:CN239479;MedGen:CN169374 2 152521096 152521096 C T 135192 single nucleotide variant NM_004543.4(NEB):c.5370G>A (p.Glu1790=) 10170273 MedGen:CN239479;MedGen:CN169374 2 151664582 151664582 C T 135193 single nucleotide variant NM_004543.4(NEB):c.5567G>A (p.Arg1856Gln) 141930814 MedGen:CN169374 2 152520258 152520258 C T 135193 single nucleotide variant NM_004543.4(NEB):c.5567G>A (p.Arg1856Gln) 141930814 MedGen:CN169374 2 151663744 151663744 C T 135194 single nucleotide variant NM_004543.4(NEB):c.571G>C (p.Glu191Gln) 35686968 MedGen:CN221809;MedGen:CN169374 2 152580815 152580815 C G 135194 single nucleotide variant NM_004543.4(NEB):c.571G>C (p.Glu191Gln) 35686968 MedGen:CN221809;MedGen:CN169374 2 151724301 151724301 C G 135195 single nucleotide variant NM_004543.4(NEB):c.5724C>T (p.Ser1908=) 370965998 MedGen:CN169374 2 152520101 152520101 G A 135195 single nucleotide variant NM_004543.4(NEB):c.5724C>T (p.Ser1908=) 370965998 MedGen:CN169374 2 151663587 151663587 G A 135196 single nucleotide variant NM_004543.4(NEB):c.5763+4C>T 78916288 MedGen:CN169374 2 152520058 152520058 G A 135196 single nucleotide variant NM_004543.4(NEB):c.5763+4C>T 78916288 MedGen:CN169374 2 151663544 151663544 G A 135197 single nucleotide variant NM_004543.4(NEB):c.5772C>T (p.Tyr1924=) 77547727 MedGen:CN239479;MedGen:CN169374 2 152518847 152518847 G A 135197 single nucleotide variant NM_004543.4(NEB):c.5772C>T (p.Tyr1924=) 77547727 MedGen:CN239479;MedGen:CN169374 2 151662333 151662333 G A 135198 single nucleotide variant NM_004543.4(NEB):c.5971C>T (p.His1991Tyr) 75807392 MedGen:CN239479;MedGen:CN169374 2 152515683 152515683 G A 135198 single nucleotide variant NM_004543.4(NEB):c.5971C>T (p.His1991Tyr) 75807392 MedGen:CN239479;MedGen:CN169374 2 151659169 151659169 G A 135199 single nucleotide variant NM_004543.4(NEB):c.612+8T>C 113095802 MedGen:CN239479;MedGen:CN169374 2 152580766 152580766 A G 135199 single nucleotide variant NM_004543.4(NEB):c.612+8T>C 113095802 MedGen:CN239479;MedGen:CN169374 2 151724252 151724252 A G 135200 single nucleotide variant NM_004543.4(NEB):c.6159G>A (p.Lys2053=) 140186806 MedGen:CN169374 2 152514521 152514521 C T 135200 single nucleotide variant NM_004543.4(NEB):c.6159G>A (p.Lys2053=) 140186806 MedGen:CN169374 2 151658007 151658007 C T 135201 single nucleotide variant NM_004543.4(NEB):c.6717T>G (p.Ile2239Met) 78733601 MedGen:CN239479;MedGen:CN169374 2 152511874 152511874 A C 135201 single nucleotide variant NM_004543.4(NEB):c.6717T>G (p.Ile2239Met) 78733601 MedGen:CN239479;MedGen:CN169374 2 151655360 151655360 A C 135202 single nucleotide variant NM_004543.4(NEB):c.6807+6T>G 10930723 MedGen:CN239479;MedGen:CN169374 2 152511778 152511778 A C 135202 single nucleotide variant NM_004543.4(NEB):c.6807+6T>G 10930723 MedGen:CN239479;MedGen:CN169374 2 151655264 151655264 A C 135203 single nucleotide variant NM_004543.4(NEB):c.8189A>G (p.Asp2730Gly) 76767949 MedGen:CN239479;MedGen:CN169374 2 152499355 152499355 T C 135203 single nucleotide variant NM_004543.4(NEB):c.8189A>G (p.Asp2730Gly) 76767949 MedGen:CN239479;MedGen:CN169374 2 151642841 151642841 T C 135204 single nucleotide variant NM_004543.4(NEB):c.8318G>A (p.Arg2773Gln) 35974308 MedGen:CN239479;MedGen:CN169374 2 152499143 152499143 C T 135204 single nucleotide variant NM_004543.4(NEB):c.8318G>A (p.Arg2773Gln) 35974308 MedGen:CN239479;MedGen:CN169374 2 151642629 151642629 C T 135205 single nucleotide variant NM_004543.4(NEB):c.8466C>T (p.His2822=) 61730771 MedGen:CN239479;MedGen:CN169374 2 152497088 152497088 G A 135205 single nucleotide variant NM_004543.4(NEB):c.8466C>T (p.His2822=) 61730771 MedGen:CN239479;MedGen:CN169374 2 151640574 151640574 G A 135206 single nucleotide variant NM_004543.4(NEB):c.8592T>C (p.Asp2864=) 61730772 MedGen:CN239479;MedGen:CN169374 2 152496962 152496962 A G 135206 single nucleotide variant NM_004543.4(NEB):c.8592T>C (p.Asp2864=) 61730772 MedGen:CN239479;MedGen:CN169374 2 151640448 151640448 A G 135207 single nucleotide variant NM_004543.4(NEB):c.8734T>C (p.Ser2912Pro) 6713162 MedGen:CN239479;MedGen:CN169374 2 152496526 152496526 A G 135207 single nucleotide variant NM_004543.4(NEB):c.8734T>C (p.Ser2912Pro) 6713162 MedGen:CN239479;MedGen:CN169374 2 151640012 151640012 A G 135208 single nucleotide variant NM_004543.4(NEB):c.9978G>A (p.Lys3326=) 6717213 MedGen:CN239479;MedGen:CN169374 2 152476130 152476130 C T 135208 single nucleotide variant NM_004543.4(NEB):c.9978G>A (p.Lys3326=) 6717213 MedGen:CN239479;MedGen:CN169374 2 151619616 151619616 C T 176936 single nucleotide variant NM_001271208.1(NEB):c.17588G>C (p.Arg5863Thr) 727504032 MedGen:CN169374 2 151568664 151568664 C G 176936 single nucleotide variant NM_001271208.1(NEB):c.17588G>C (p.Arg5863Thr) 727504032 MedGen:CN169374 2 152425178 152425178 C G 176937 single nucleotide variant NM_001271208.1(NEB):c.218G>A (p.Arg73Gln) 727504037 MedGen:CN169374 2 152584281 152584281 C T 176937 single nucleotide variant NM_001271208.1(NEB):c.218G>A (p.Arg73Gln) 727504037 MedGen:CN169374 2 151727767 151727767 C T 177067 single nucleotide variant NM_001271208.1(NEB):c.23372T>C (p.Met7791Thr) 201767727 MedGen:CN169374 2 152369326 152369326 A G 177067 single nucleotide variant NM_001271208.1(NEB):c.23372T>C (p.Met7791Thr) 201767727 MedGen:CN169374 2 151512812 151512812 A G 177068 single nucleotide variant NM_001271208.1(NEB):c.3461A>T (p.Asp1154Val) 727504036 MedGen:CN169374 2 152534496 152534496 T A 177068 single nucleotide variant NM_001271208.1(NEB):c.3461A>T (p.Asp1154Val) 727504036 MedGen:CN169374 2 151677982 151677982 T A 177199 single nucleotide variant NM_001271208.1(NEB):c.10231G>A (p.Ala3411Thr) 727504034 MedGen:CN169374 2 151627118 151627118 C T 177199 single nucleotide variant NM_001271208.1(NEB):c.10231G>A (p.Ala3411Thr) 727504034 MedGen:CN169374 2 152483632 152483632 C T 177331 single nucleotide variant NM_004543.4(NEB):c.13427G>A (p.Arg4476His) 147159176 MedGen:CN239479;MedGen:CN169374 2 151563872 151563872 C T 177331 single nucleotide variant NM_004543.4(NEB):c.13427G>A (p.Arg4476His) 147159176 MedGen:CN239479;MedGen:CN169374 2 152420386 152420386 C T 177332 single nucleotide variant NM_001271208.1(NEB):c.1211C>T (p.Thr404Ile) 200585609 MedGen:CN169374 2 152554104 152554104 G A 177332 single nucleotide variant NM_001271208.1(NEB):c.1211C>T (p.Thr404Ile) 200585609 MedGen:CN169374 2 151697590 151697590 G A 177855 single nucleotide variant NM_001271208.1(NEB):c.23868G>C (p.Leu7956Phe) 201028196 MedGen:CN169374 2 152359935 152359935 C G 177855 single nucleotide variant NM_001271208.1(NEB):c.23868G>C (p.Leu7956Phe) 201028196 MedGen:CN169374 2 151503421 151503421 C G 177856 single nucleotide variant NM_001271208.1(NEB):c.19626T>C (p.Asp6542=) 190336010 MedGen:CN239479;MedGen:CN169374 2 152410342 152410342 A G 177856 single nucleotide variant NM_001271208.1(NEB):c.19626T>C (p.Asp6542=) 190336010 MedGen:CN239479;MedGen:CN169374 2 151553828 151553828 A G 177857 duplication NM_004543.4(NEB):c.10348-21_10348-20dupCT 369065019 MedGen:CN169374 2 152474002 152474003 AG AGAG 177857 duplication NM_004543.4(NEB):c.10348-21_10348-20dupCT 369065019 MedGen:CN169374 2 151617488 151617489 AG AGAG 177858 single nucleotide variant NM_001271208.1(NEB):c.10233T>C (p.Ala3411=) 727504033 MedGen:CN169374 2 152483630 152483630 A G 177858 single nucleotide variant NM_001271208.1(NEB):c.10233T>C (p.Ala3411=) 727504033 MedGen:CN169374 2 151627116 151627116 A G 177859 single nucleotide variant NM_001271208.1(NEB):c.9831+4A>G 727504035 MedGen:CN169374 2 152486049 152486049 T C 177859 single nucleotide variant NM_001271208.1(NEB):c.9831+4A>G 727504035 MedGen:CN169374 2 151629535 151629535 T C 177860 single nucleotide variant NM_001271208.1(NEB):c.3901C= (p.His1301=) 6711382 MedGen:CN169374 2 152531077 152531077 A G 177860 single nucleotide variant NM_001271208.1(NEB):c.3901C= (p.His1301=) 6711382 MedGen:CN169374 2 151674563 151674563 A G 177861 single nucleotide variant NM_001271208.1(NEB):c.3879+20G>T 12618063 MedGen:CN169374 2 152531781 152531781 C A 177861 single nucleotide variant NM_001271208.1(NEB):c.3879+20G>T 12618063 MedGen:CN169374 2 151675267 151675267 C A 177862 single nucleotide variant NM_001271208.1(NEB):c.3879+8G>A 376511134 MedGen:CN169374 2 152531793 152531793 C T 177862 single nucleotide variant NM_001271208.1(NEB):c.3879+8G>A 376511134 MedGen:CN169374 2 151675279 151675279 C T 177863 single nucleotide variant NM_001271208.1(NEB):c.2832C>T (p.Ser944=) 114076205 MedGen:CN239479;MedGen:CN169374 2 152541295 152541295 G A 177863 single nucleotide variant NM_001271208.1(NEB):c.2832C>T (p.Ser944=) 114076205 MedGen:CN239479;MedGen:CN169374 2 151684781 151684781 G A 177864 single nucleotide variant NM_001271208.1(NEB):c.1413C>T (p.Phe471=) 112958786 MedGen:CN239479;MedGen:CN169374 2 152553719 152553719 G A 177864 single nucleotide variant NM_001271208.1(NEB):c.1413C>T (p.Phe471=) 112958786 MedGen:CN239479;MedGen:CN169374 2 151697205 151697205 G A 177865 single nucleotide variant NM_001271208.1(NEB):c.492G>T (p.Ser164=) 371015050 MedGen:CN169374 2 152581386 152581386 C A 177865 single nucleotide variant NM_001271208.1(NEB):c.492G>T (p.Ser164=) 371015050 MedGen:CN169374 2 151724872 151724872 C A 177866 single nucleotide variant NM_001271208.1(NEB):c.105G>A (p.Thr35=) 368075131 MedGen:CN169374 2 152584394 152584394 C T 177866 single nucleotide variant NM_001271208.1(NEB):c.105G>A (p.Thr35=) 368075131 MedGen:CN169374 2 151727880 151727880 C T 186648 indel NM_004543.4(NEB):c.3987+1_3987+2delGTinsTG 786204576 MedGen:C1850569,OMIM:256030 2 152530989 152530990 AC CA 186648 indel NM_004543.4(NEB):c.3987+1_3987+2delGTinsTG 786204576 MedGen:C1850569,OMIM:256030 2 151674475 151674476 AC CA 186649 deletion NM_004543.4(NEB):c.2784delT (p.Asp929Ilefs) 786204430 MedGen:C1850569,OMIM:256030 2 152541343 152541343 A - 186649 deletion NM_004543.4(NEB):c.2784delT (p.Asp929Ilefs) 786204430 MedGen:C1850569,OMIM:256030 2 151684829 151684829 A - 188272 single nucleotide variant NM_001164507.1(NEB):c.21076C>T (p.Arg7026Ter) 769345284 MedGen:C0455988,OMIM:236750,Orphanet:ORPHA363999,SNOMED CT:C0455988 2 152394412 152394412 G A 188272 single nucleotide variant NM_001164507.1(NEB):c.21076C>T (p.Arg7026Ter) 769345284 MedGen:C0455988,OMIM:236750,Orphanet:ORPHA363999,SNOMED CT:C0455988 2 151537898 151537898 G A 190944 single nucleotide variant NM_004543.4(NEB):c.15474+6G>A 775513148 MedGen:CN239479;MedGen:CN169374 2 152402396 152402396 C T 190944 single nucleotide variant NM_004543.4(NEB):c.15474+6G>A 775513148 MedGen:CN239479;MedGen:CN169374 2 151545882 151545882 C T 190945 deletion NM_001271208.1(NEB):c.20467-4delT 779970363 MedGen:CN169374 2 152402516 152402516 A - 190945 deletion NM_001271208.1(NEB):c.20467-4delT 779970363 MedGen:CN169374 2 151546002 151546002 A - 190946 single nucleotide variant NM_001271208.1(NEB):c.20671C>T (p.Leu6891Phe) 182866658 MedGen:CN169374 2 152397972 152397972 G A 190946 single nucleotide variant NM_001271208.1(NEB):c.20671C>T (p.Leu6891Phe) 182866658 MedGen:CN169374 2 151541458 151541458 G A 191042 single nucleotide variant NM_004543.4(NEB):c.863A>G (p.Lys288Arg) 202035863 MedGen:CN239479;MedGen:CN169374 2 152567012 152567012 T C 191042 single nucleotide variant NM_004543.4(NEB):c.863A>G (p.Lys288Arg) 202035863 MedGen:CN239479;MedGen:CN169374 2 151710498 151710498 T C 191043 single nucleotide variant NM_004543.4(NEB):c.914A>G (p.Asp305Gly) 36105240 MedGen:CN239479;MedGen:CN169374 2 152566961 152566961 T C 191043 single nucleotide variant NM_004543.4(NEB):c.914A>G (p.Asp305Gly) 36105240 MedGen:CN239479;MedGen:CN169374 2 151710447 151710447 T C 191122 single nucleotide variant NM_001271208.1(NEB):c.21671A>T (p.Tyr7224Phe) 794727042 MedGen:CN169374 2 152387572 152387572 T A 191122 single nucleotide variant NM_001271208.1(NEB):c.21671A>T (p.Tyr7224Phe) 794727042 MedGen:CN169374 2 151531058 151531058 T A 191124 single nucleotide variant NM_001271208.1(NEB):c.21790G>C (p.Asp7264His) 201979610 MedGen:CN221809;MedGen:CN169374 2 152385774 152385774 C G 191124 single nucleotide variant NM_001271208.1(NEB):c.21790G>C (p.Asp7264His) 201979610 MedGen:CN221809;MedGen:CN169374 2 151529260 151529260 C G 191304 single nucleotide variant NM_001271208.1(NEB):c.21856C>G (p.Gln7286Glu) 373946758 MedGen:CN169374 2 152384084 152384084 G C 191304 single nucleotide variant NM_001271208.1(NEB):c.21856C>G (p.Gln7286Glu) 373946758 MedGen:CN169374 2 151527570 151527570 G C 191305 single nucleotide variant NM_001271208.1(NEB):c.22110G>A (p.Thr7370=) 201400523 MedGen:CN239479;MedGen:CN169374 2 152382717 152382717 C T 191305 single nucleotide variant NM_001271208.1(NEB):c.22110G>A (p.Thr7370=) 201400523 MedGen:CN239479;MedGen:CN169374 2 151526203 151526203 C T 191307 single nucleotide variant NM_004543.4(NEB):c.17007A>G (p.Pro5669=) 539800267 MedGen:CN239479;MedGen:CN169374 2 152382523 152382523 T C 191307 single nucleotide variant NM_004543.4(NEB):c.17007A>G (p.Pro5669=) 539800267 MedGen:CN239479;MedGen:CN169374 2 151526009 151526009 T C 191454 single nucleotide variant NM_001271208.1(NEB):c.23009G>A (p.Gly7670Glu) 3732309 MedGen:CN239479;MedGen:CN169374 2 152372974 152372974 C T 191454 single nucleotide variant NM_001271208.1(NEB):c.23009G>A (p.Gly7670Glu) 3732309 MedGen:CN239479;MedGen:CN169374 2 151516460 151516460 C T 191455 single nucleotide variant NM_004543.4(NEB):c.17775C>A (p.Ala5925=) 185574478 MedGen:CN239479;MedGen:CN169374 2 152373000 152373000 G T 191455 single nucleotide variant NM_004543.4(NEB):c.17775C>A (p.Ala5925=) 185574478 MedGen:CN239479;MedGen:CN169374 2 151516486 151516486 G T 191458 single nucleotide variant NM_004543.4(NEB):c.17910C>T (p.Ser5970=) 370873040 MedGen:CN239479;MedGen:CN169374 2 152371335 152371335 G A 191458 single nucleotide variant NM_004543.4(NEB):c.17910C>T (p.Ser5970=) 370873040 MedGen:CN239479;MedGen:CN169374 2 151514821 151514821 G A 191460 single nucleotide variant NM_004543.4(NEB):c.17952G>A (p.Gly5984=) 563896790 MedGen:CN239479;MedGen:CN169374 2 152370904 152370904 C T 191460 single nucleotide variant NM_004543.4(NEB):c.17952G>A (p.Gly5984=) 563896790 MedGen:CN239479;MedGen:CN169374 2 151514390 151514390 C T 191471 single nucleotide variant NM_001271208.1(NEB):c.23704A>C (p.Lys7902Gln) 118191309 MedGen:CN239479;MedGen:CN169374 2 152362730 152362730 T G 191471 single nucleotide variant NM_001271208.1(NEB):c.23704A>C (p.Lys7902Gln) 118191309 MedGen:CN239479;MedGen:CN169374 2 151506216 151506216 T G 191474 single nucleotide variant NM_001271208.1(NEB):c.23755-5T>G 773618223 MedGen:CN169374 2 152362089 152362089 A C 191474 single nucleotide variant NM_001271208.1(NEB):c.23755-5T>G 773618223 MedGen:CN169374 2 151505575 151505575 A C 191475 single nucleotide variant NM_001271208.1(NEB):c.23881C>T (p.Pro7961Ser) 193224180 MedGen:CN169374 2 152359922 152359922 G A 191475 single nucleotide variant NM_001271208.1(NEB):c.23881C>T (p.Pro7961Ser) 193224180 MedGen:CN169374 2 151503408 151503408 G A 191615 deletion NM_001271208.1(NEB):c.24770_24771delTT (p.Phe8257Terfs) 794727136 MeSH:D030342,MedGen:C0950123;MedGen:C1850569,OMIM:256030 2 152350295 152350296 AA - 191615 deletion NM_001271208.1(NEB):c.24770_24771delTT (p.Phe8257Terfs) 794727136 MeSH:D030342,MedGen:C0950123;MedGen:C1850569,OMIM:256030 2 151493781 151493782 AA - 191616 single nucleotide variant NM_001271208.1(NEB):c.25472C>T (p.Thr8491Met) 78592085 Human Phenotype Ontology:HP:0003741,MedGen:CN003380;Human Phenotype Ontology:HP:0001324,MedGen:C0151786;MedGen:CN239479;MedGen:CN169374 2 152346522 152346522 G A 191616 single nucleotide variant NM_001271208.1(NEB):c.25472C>T (p.Thr8491Met) 78592085 Human Phenotype Ontology:HP:0003741,MedGen:CN003380;Human Phenotype Ontology:HP:0001324,MedGen:C0151786;MedGen:CN239479;MedGen:CN169374 2 151490008 151490008 G A 191741 single nucleotide variant NM_001271208.1(NEB):c.25647C>T (p.Thr8549=) 3821324 MedGen:CN239479;MedGen:CN169374 2 152342310 152342310 G A 191741 single nucleotide variant NM_001271208.1(NEB):c.25647C>T (p.Thr8549=) 3821324 MedGen:CN239479;MedGen:CN169374 2 151485796 151485796 G A 192118 single nucleotide variant NM_001271208.1(NEB):c.1748T>C (p.Leu583Pro) 794727227 MedGen:CN169374 2 152551070 152551070 A G 192118 single nucleotide variant NM_001271208.1(NEB):c.1748T>C (p.Leu583Pro) 794727227 MedGen:CN169374 2 151694556 151694556 A G 192842 single nucleotide variant NM_001271208.1(NEB):c.2020G>A (p.Val674Ile) 775553284 MedGen:CN169374 2 152548659 152548659 C T 192842 single nucleotide variant NM_001271208.1(NEB):c.2020G>A (p.Val674Ile) 775553284 MedGen:CN169374 2 151692145 151692145 C T 192983 single nucleotide variant NM_001271208.1(NEB):c.2283C>T (p.Ala761=) 373946448 MedGen:CN169374 2 152547268 152547268 G A 192983 single nucleotide variant NM_001271208.1(NEB):c.2283C>T (p.Ala761=) 373946448 MedGen:CN169374 2 151690754 151690754 G A 193043 single nucleotide variant NM_004543.4(NEB):c.2343G>A (p.Lys781=) 191610670 MedGen:CN239479;MedGen:CN169374 2 151688364 151688364 C T 193043 single nucleotide variant NM_004543.4(NEB):c.2343G>A (p.Lys781=) 191610670 MedGen:CN239479;MedGen:CN169374 2 152544878 152544878 C T 193133 single nucleotide variant NM_001271208.1(NEB):c.2459T>G (p.Phe820Cys) 200664592 MedGen:CN169374 2 151687690 151687690 A C 193133 single nucleotide variant NM_001271208.1(NEB):c.2459T>G (p.Phe820Cys) 200664592 MedGen:CN169374 2 152544204 152544204 A C 194026 single nucleotide variant NM_001271208.1(NEB):c.3348C>T (p.Asn1116=) 149162847 MedGen:CN239479;MedGen:CN169374 2 152534609 152534609 G A 194026 single nucleotide variant NM_001271208.1(NEB):c.3348C>T (p.Asn1116=) 149162847 MedGen:CN239479;MedGen:CN169374 2 151678095 151678095 G A 194059 single nucleotide variant NM_004543.4(NEB):c.3637G>A (p.Val1213Ile) 202124287 MedGen:CN239479;MedGen:CN169374 2 152534216 152534216 C T 194059 single nucleotide variant NM_004543.4(NEB):c.3637G>A (p.Val1213Ile) 202124287 MedGen:CN239479;MedGen:CN169374 2 151677702 151677702 C T 194060 single nucleotide variant NM_001271208.1(NEB):c.3721G>T (p.Val1241Leu) 537769519 MedGen:CN169374 2 152534132 152534132 C A 194060 single nucleotide variant NM_001271208.1(NEB):c.3721G>T (p.Val1241Leu) 537769519 MedGen:CN169374 2 151677618 151677618 C A 194061 single nucleotide variant NM_004543.4(NEB):c.3623T>C (p.Ile1208Thr) 201141958 MedGen:CN239479;MedGen:CN169374 2 152534230 152534230 A G 194061 single nucleotide variant NM_004543.4(NEB):c.3623T>C (p.Ile1208Thr) 201141958 MedGen:CN239479;MedGen:CN169374 2 151677716 151677716 A G 194168 single nucleotide variant NM_004543.4(NEB):c.4149C>T (p.Thr1383=) 148794372 MedGen:CN239479;MedGen:CN169374 2 152529033 152529033 G A 194168 single nucleotide variant NM_004543.4(NEB):c.4149C>T (p.Thr1383=) 148794372 MedGen:CN239479;MedGen:CN169374 2 151672519 151672519 G A 194169 single nucleotide variant NM_001271208.1(NEB):c.4272G>C (p.Thr1424=) 35654397 MedGen:CN239479;MedGen:CN169374 2 152528910 152528910 C G 194169 single nucleotide variant NM_001271208.1(NEB):c.4272G>C (p.Thr1424=) 35654397 MedGen:CN239479;MedGen:CN169374 2 151672396 151672396 C G 194685 single nucleotide variant NM_001271208.1(NEB):c.5555T>G (p.Met1852Arg) 144180493 MedGen:CN239479;MedGen:CN169374 2 152520270 152520270 A C 194685 single nucleotide variant NM_001271208.1(NEB):c.5555T>G (p.Met1852Arg) 144180493 MedGen:CN239479;MedGen:CN169374 2 151663756 151663756 A C 194707 single nucleotide variant NM_001271208.1(NEB):c.5801G>A (p.Gly1934Asp) 763717355 MedGen:CN169374 2 151662304 151662304 C T 194707 single nucleotide variant NM_001271208.1(NEB):c.5801G>A (p.Gly1934Asp) 763717355 MedGen:CN169374 2 152518818 152518818 C T 195163 single nucleotide variant NM_001271208.1(NEB):c.7917T>C (p.Asp2639=) 745410848 MedGen:CN169374 2 152500371 152500371 A G 195163 single nucleotide variant NM_001271208.1(NEB):c.7917T>C (p.Asp2639=) 745410848 MedGen:CN169374 2 151643857 151643857 A G 195164 single nucleotide variant NM_001271208.1(NEB):c.7861G>A (p.Asp2621Asn) 781745506 MedGen:CN169374 2 152500427 152500427 C T 195164 single nucleotide variant NM_001271208.1(NEB):c.7861G>A (p.Asp2621Asn) 781745506 MedGen:CN169374 2 151643913 151643913 C T 195469 single nucleotide variant NM_001271208.1(NEB):c.8644G>A (p.Asp2882Asn) 200729207 MedGen:CN169374 2 152496910 152496910 C T 195469 single nucleotide variant NM_001271208.1(NEB):c.8644G>A (p.Asp2882Asn) 200729207 MedGen:CN169374 2 151640396 151640396 C T 195482 single nucleotide variant NM_001271208.1(NEB):c.8719G>A (p.Gly2907Ser) 201707021 MedGen:CN169374 2 152496541 152496541 C T 195482 single nucleotide variant NM_001271208.1(NEB):c.8719G>A (p.Gly2907Ser) 201707021 MedGen:CN169374 2 151640027 151640027 C T 195523 single nucleotide variant NM_001271208.1(NEB):c.10092C>T (p.Pro3364=) 768708852 MedGen:CN169374 2 152484088 152484088 G A 195523 single nucleotide variant NM_001271208.1(NEB):c.10092C>T (p.Pro3364=) 768708852 MedGen:CN169374 2 151627574 151627574 G A 195528 single nucleotide variant NM_001271208.1(NEB):c.10201T>A (p.Ser3401Thr) 199847072 MedGen:CN169374 2 152483662 152483662 A T 195528 single nucleotide variant NM_001271208.1(NEB):c.10201T>A (p.Ser3401Thr) 199847072 MedGen:CN169374 2 151627148 151627148 A T 195530 single nucleotide variant NM_001271208.1(NEB):c.10452+9A>G 117270796 MedGen:CN239479;MedGen:CN169374 2 152482039 152482039 T C 195530 single nucleotide variant NM_001271208.1(NEB):c.10452+9A>G 117270796 MedGen:CN239479;MedGen:CN169374 2 151625525 151625525 T C 195536 single nucleotide variant NM_001271208.1(NEB):c.10463G>A (p.Arg3488His) 371605774 MedGen:CN169374 2 152477530 152477530 C T 195536 single nucleotide variant NM_001271208.1(NEB):c.10463G>A (p.Arg3488His) 371605774 MedGen:CN169374 2 151621016 151621016 C T 195807 single nucleotide variant NM_001271208.1(NEB):c.11004G>A (p.Thr3668=) 117018177 MedGen:CN239479;MedGen:CN169374 2 152474861 152474861 C T 195807 single nucleotide variant NM_001271208.1(NEB):c.11004G>A (p.Thr3668=) 117018177 MedGen:CN239479;MedGen:CN169374 2 151618347 151618347 C T 195813 deletion NM_001271208.1(NEB):c.11077-5delT 761636571 MedGen:CN169374 2 152473987 152473987 A - 195813 deletion NM_001271208.1(NEB):c.11077-5delT 761636571 MedGen:CN169374 2 151617473 151617473 A - 195840 single nucleotide variant NM_004543.4(NEB):c.11714A>G (p.Tyr3905Cys) 372049328 MedGen:CN239479;MedGen:CN221809;MedGen:CN169374 2 152432756 152432756 T C 195840 single nucleotide variant NM_004543.4(NEB):c.11714A>G (p.Tyr3905Cys) 372049328 MedGen:CN239479;MedGen:CN221809;MedGen:CN169374 2 151576242 151576242 T C 195970 single nucleotide variant NM_001271208.1(NEB):c.539A>G (p.Lys180Arg) 200719359 MedGen:CN239479;MedGen:CN169374 2 151724333 151724333 T C 195970 single nucleotide variant NM_001271208.1(NEB):c.539A>G (p.Lys180Arg) 200719359 MedGen:CN239479;MedGen:CN169374 2 152580847 152580847 T C 196119 deletion NM_004543.4(NEB):c.12532-3delT 769912153 MedGen:CN239479;MedGen:CN169374 2 152424934 152424934 A - 196119 deletion NM_004543.4(NEB):c.12532-3delT 769912153 MedGen:CN239479;MedGen:CN169374 2 151568420 151568420 A - 196126 single nucleotide variant NM_001271208.1(NEB):c.18140A>G (p.Tyr6047Cys) 533393007 MedGen:CN169374 2 152423698 152423698 T C 196126 single nucleotide variant NM_001271208.1(NEB):c.18140A>G (p.Tyr6047Cys) 533393007 MedGen:CN169374 2 151567184 151567184 T C 196127 single nucleotide variant NM_001271208.1(NEB):c.17887G>A (p.Val5963Ile) 138217960 MedGen:CN239479;MedGen:CN169374 2 152423951 152423951 C T 196127 single nucleotide variant NM_001271208.1(NEB):c.17887G>A (p.Val5963Ile) 138217960 MedGen:CN239479;MedGen:CN169374 2 151567437 151567437 C T 196380 single nucleotide variant NM_001271208.1(NEB):c.18842A>G (p.Glu6281Gly) 768965998 MedGen:CN169374 2 151562660 151562660 T C 196380 single nucleotide variant NM_001271208.1(NEB):c.18842A>G (p.Glu6281Gly) 768965998 MedGen:CN169374 2 152419174 152419174 T C 196381 single nucleotide variant NM_001271208.1(NEB):c.18786C>T (p.Tyr6262=) 374874999 MedGen:CN169374 2 152419230 152419230 G A 196381 single nucleotide variant NM_001271208.1(NEB):c.18786C>T (p.Tyr6262=) 374874999 MedGen:CN169374 2 151562716 151562716 G A 196382 single nucleotide variant NM_004543.4(NEB):c.13759G>A (p.Val4587Ile) 201886728 MedGen:CN239479;MedGen:CN169374 2 152419154 152419154 C T 196382 single nucleotide variant NM_004543.4(NEB):c.13759G>A (p.Val4587Ile) 201886728 MedGen:CN239479;MedGen:CN169374 2 151562640 151562640 C T 196383 single nucleotide variant NM_001271208.1(NEB):c.18783G>A (p.Gln6261=) 148095660 MedGen:CN239479;MedGen:CN169374 2 152419233 152419233 C T 196383 single nucleotide variant NM_001271208.1(NEB):c.18783G>A (p.Gln6261=) 148095660 MedGen:CN239479;MedGen:CN169374 2 151562719 151562719 C T 196402 indel NM_004543.4(NEB):c.14182_14183delGCinsAA (p.Ala4728Asn) 796065338 MedGen:CN169374 2 152417134 152417135 GC TT 196402 indel NM_004543.4(NEB):c.14182_14183delGCinsAA (p.Ala4728Asn) 796065338 MedGen:CN169374 2 151560620 151560621 GC TT 196409 single nucleotide variant NM_001271208.1(NEB):c.19544G>A (p.Arg6515His) 757278862 MedGen:CN169374 2 152410424 152410424 C T 196409 single nucleotide variant NM_001271208.1(NEB):c.19544G>A (p.Arg6515His) 757278862 MedGen:CN169374 2 151553910 151553910 C T 205133 single nucleotide variant NM_004543.4(NEB):c.18640-1G>C 797045098 MedGen:C1850569,OMIM:256030 2 152359956 152359956 C G 205133 single nucleotide variant NM_004543.4(NEB):c.18640-1G>C 797045098 MedGen:C1850569,OMIM:256030 2 151503442 151503442 C G 206863 deletion NM_004543.4(NEB):c.18546+10_18546+11del 772001300 MedGen:CN169374 2 152362669 152362670 TG - 206863 deletion NM_004543.4(NEB):c.18546+10_18546+11del 772001300 MedGen:CN169374 2 151506155 151506156 TG - 206864 single nucleotide variant NM_004543.4(NEB):c.14995C>A (p.Leu4999Ile) 202139330 Human Phenotype Ontology:HP:0009763,MedGen:CN008622;Human Phenotype Ontology:HP:0003560,MedGen:C1864711;Human Phenotype Ontology:HP:0009073,MedGen:C1836156;MedGen:CN221809;MedGen:CN169374 2 152404881 152404881 G T 206864 single nucleotide variant NM_004543.4(NEB):c.14995C>A (p.Leu4999Ile) 202139330 Human Phenotype Ontology:HP:0009763,MedGen:CN008622;Human Phenotype Ontology:HP:0003560,MedGen:C1864711;Human Phenotype Ontology:HP:0009073,MedGen:C1836156;MedGen:CN221809;MedGen:CN169374 2 151548367 151548367 G T 206865 deletion NM_001271208.1(NEB):c.18597delA (p.Tyr6200Metfs) 797045735 MedGen:CN187052 2 152420216 152420216 T - 206865 deletion NM_001271208.1(NEB):c.18597delA (p.Tyr6200Metfs) 797045735 MedGen:CN187052 2 151563702 151563702 T - 206866 single nucleotide variant NM_004543.4(NEB):c.5905T>C (p.Tyr1969His) 34532796 MedGen:CN169374 2 152518714 152518714 A G 206866 single nucleotide variant NM_004543.4(NEB):c.5905T>C (p.Tyr1969His) 34532796 MedGen:CN169374 2 151662200 151662200 A G 206867 single nucleotide variant NM_004543.4(NEB):c.4664G>A (p.Arg1555Lys) 183333679 MedGen:CN169374 2 152524373 152524373 C T 206867 single nucleotide variant NM_004543.4(NEB):c.4664G>A (p.Arg1555Lys) 183333679 MedGen:CN169374 2 151667859 151667859 C T 206868 single nucleotide variant NM_004543.4(NEB):c.3774+1G>A 111293259 MedGen:CN187052 2 152534078 152534078 C T 206868 single nucleotide variant NM_004543.4(NEB):c.3774+1G>A 111293259 MedGen:CN187052 2 151677564 151677564 C T 206869 single nucleotide variant NM_004543.4(NEB):c.3593A>G (p.Asn1198Ser) 146616621 MedGen:CN169374 2 152534260 152534260 T C 206869 single nucleotide variant NM_004543.4(NEB):c.3593A>G (p.Asn1198Ser) 146616621 MedGen:CN169374 2 151677746 151677746 T C 206870 single nucleotide variant NM_004543.4(NEB):c.2211+5G>T 797045736 MedGen:CN187052 2 152548373 152548373 C A 206870 single nucleotide variant NM_004543.4(NEB):c.2211+5G>T 797045736 MedGen:CN187052 2 151691859 151691859 C A 209343 duplication NM_001271208.1(NEB):c.24582_24585dupTATT (p.Ser8196Tyrfs) 797044606 MedGen:C1850569,OMIM:256030 2 152352796 152352799 AATA AATAAATA 209343 duplication NM_001271208.1(NEB):c.24582_24585dupTATT (p.Ser8196Tyrfs) 797044606 MedGen:C1850569,OMIM:256030 2 151496282 151496285 AATA AATAAATA 215219 single nucleotide variant NM_001271208.1(NEB):c.7441A>G (p.Arg2481Gly) 149430473 MedGen:CN239479;MedGen:CN169374 2 151646225 151646225 T C 215219 single nucleotide variant NM_001271208.1(NEB):c.7441A>G (p.Arg2481Gly) 149430473 MedGen:CN239479;MedGen:CN169374 2 152502739 152502739 T C 215220 single nucleotide variant NM_001271208.1(NEB):c.5049C>G (p.Asp1683Glu) 777670525 MedGen:CN169374 2 151665522 151665522 G C 215220 single nucleotide variant NM_001271208.1(NEB):c.5049C>G (p.Asp1683Glu) 777670525 MedGen:CN169374 2 152522036 152522036 G C 226442 single nucleotide variant NM_001271208.1(NEB):c.23662G>A (p.Val7888Ile) 878854397 MedGen:CN169374 2 152362772 152362772 C T 226442 single nucleotide variant NM_001271208.1(NEB):c.23662G>A (p.Val7888Ile) 878854397 MedGen:CN169374 2 151506258 151506258 C T 226443 deletion NM_001271208.1(NEB):c.7523_7526delTCAA (p.Ile2508Thrfs) 878854368 MedGen:C1850569,OMIM:256030 2 152502654 152502657 TTGA - 226443 deletion NM_001271208.1(NEB):c.7523_7526delTCAA (p.Ile2508Thrfs) 878854368 MedGen:C1850569,OMIM:256030 2 151646140 151646143 TTGA - 226444 single nucleotide variant NM_001271208.1(NEB):c.7291G>A (p.Glu2431Lys) 767302772 MedGen:C1850569,OMIM:256030 2 152506830 152506830 C T 226444 single nucleotide variant NM_001271208.1(NEB):c.7291G>A (p.Glu2431Lys) 767302772 MedGen:C1850569,OMIM:256030 2 151650316 151650316 C T 226889 single nucleotide variant NM_004543.4(NEB):c.7761G>C (p.Arg2587Ser) 869312958 MeSH:D030342,MedGen:C0950123 2 152500527 152500527 C G 226889 single nucleotide variant NM_004543.4(NEB):c.7761G>C (p.Arg2587Ser) 869312958 MeSH:D030342,MedGen:C0950123 2 151644013 151644013 C G 226890 single nucleotide variant NM_004543.4(NEB):c.4393G>A (p.Asp1465Asn) 745382279 MeSH:D030342,MedGen:C0950123 2 152527650 152527650 C T 226890 single nucleotide variant NM_004543.4(NEB):c.4393G>A (p.Asp1465Asn) 745382279 MeSH:D030342,MedGen:C0950123 2 151671136 151671136 C T 226891 single nucleotide variant NM_004543.4(NEB):c.4198G>A (p.Ala1400Thr) 113174390 MeSH:D030342,MedGen:C0950123;MedGen:CN239479;MedGen:CN169374 2 152528984 152528984 C T 226891 single nucleotide variant NM_004543.4(NEB):c.4198G>A (p.Ala1400Thr) 113174390 MeSH:D030342,MedGen:C0950123;MedGen:CN239479;MedGen:CN169374 2 151672470 151672470 C T 228528 single nucleotide variant NM_001271208.1(NEB):c.25255+12G>A 4414676 MedGen:CN239479;MedGen:CN169374 2 152348185 152348185 C T 228528 single nucleotide variant NM_001271208.1(NEB):c.25255+12G>A 4414676 MedGen:CN239479;MedGen:CN169374 2 151491671 151491671 C T 228529 single nucleotide variant NM_001271208.1(NEB):c.24313-7C>T 113048349 MedGen:CN169374 2 151497725 151497725 G A 228529 single nucleotide variant NM_001271208.1(NEB):c.24313-7C>T 113048349 MedGen:CN169374 2 152354239 152354239 G A 228530 single nucleotide variant NM_004543.4(NEB):c.12644A>G (p.Lys4215Arg) 73967567 MedGen:CN239479;MedGen:CN169374 2 152424682 152424682 T C 228530 single nucleotide variant NM_004543.4(NEB):c.12644A>G (p.Lys4215Arg) 73967567 MedGen:CN239479;MedGen:CN169374 2 151568168 151568168 T C 228531 single nucleotide variant NM_001271208.1(NEB):c.13788+12C>G 876657543 MedGen:CN169374 2 152456944 152456944 G C 228531 single nucleotide variant NM_001271208.1(NEB):c.13788+12C>G 876657543 MedGen:CN169374 2 151600430 151600430 G C 228532 single nucleotide variant NM_001271208.1(NEB):c.13721A>G (p.His4574Arg) 876657542 MedGen:CN169374 2 152457023 152457023 T C 228532 single nucleotide variant NM_001271208.1(NEB):c.13721A>G (p.His4574Arg) 876657542 MedGen:CN169374 2 151600509 151600509 T C 228533 single nucleotide variant NM_001271208.1(NEB):c.13628A>C (p.Lys4543Thr) 200125713 MedGen:CN169374 2 152457116 152457116 T G 228533 single nucleotide variant NM_001271208.1(NEB):c.13628A>C (p.Lys4543Thr) 200125713 MedGen:CN169374 2 151600602 151600602 T G 228534 single nucleotide variant NM_001271208.1(NEB):c.13476C>T (p.Asp4492=) 876657541 MedGen:CN169374 2 151601901 151601901 G A 228534 single nucleotide variant NM_001271208.1(NEB):c.13476C>T (p.Asp4492=) 876657541 MedGen:CN169374 2 152458415 152458415 G A 228535 single nucleotide variant NM_001271208.1(NEB):c.13368+11A>G 112260335 MedGen:CN169374 2 151602576 151602576 T C 228535 single nucleotide variant NM_001271208.1(NEB):c.13368+11A>G 112260335 MedGen:CN169374 2 152459090 152459090 T C 228536 single nucleotide variant NM_001271208.1(NEB):c.13353C>T (p.Ala4451=) 774726264 MedGen:CN169374 2 151602602 151602602 G A 228536 single nucleotide variant NM_001271208.1(NEB):c.13353C>T (p.Ala4451=) 774726264 MedGen:CN169374 2 152459116 152459116 G A 228537 single nucleotide variant NM_001271208.1(NEB):c.13276G>A (p.Asp4426Asn) 876657540 MedGen:CN169374 2 152459193 152459193 C T 228537 single nucleotide variant NM_001271208.1(NEB):c.13276G>A (p.Asp4426Asn) 876657540 MedGen:CN169374 2 151602679 151602679 C T 228538 single nucleotide variant NM_001271208.1(NEB):c.13105C>T (p.Leu4369=) 147579763 MedGen:CN169374 2 152460241 152460241 G A 228538 single nucleotide variant NM_001271208.1(NEB):c.13105C>T (p.Leu4369=) 147579763 MedGen:CN169374 2 151603727 151603727 G A 228539 single nucleotide variant NM_001271208.1(NEB):c.12667G>A (p.Ala4223Thr) 12998234 MedGen:CN169374 2 152463200 152463200 C T 228539 single nucleotide variant NM_001271208.1(NEB):c.12667G>A (p.Ala4223Thr) 12998234 MedGen:CN169374 2 151606686 151606686 C T 228540 single nucleotide variant NM_001271208.1(NEB):c.12483C>T (p.Val4161=) 876657539 MedGen:CN169374 2 152465038 152465038 G A 228540 single nucleotide variant NM_001271208.1(NEB):c.12483C>T (p.Val4161=) 876657539 MedGen:CN169374 2 151608524 151608524 G A 228541 single nucleotide variant NM_001271208.1(NEB):c.9363T>C (p.Pro3121=) 6709886 MedGen:CN169374 2 152490219 152490219 A G 228541 single nucleotide variant NM_001271208.1(NEB):c.9363T>C (p.Pro3121=) 6709886 MedGen:CN169374 2 151633705 151633705 A G 228542 single nucleotide variant NM_001271208.1(NEB):c.9124T>C (p.Cys3042Arg) 6710212 MedGen:CN169374 2 152490458 152490458 A G 228542 single nucleotide variant NM_001271208.1(NEB):c.9124T>C (p.Cys3042Arg) 6710212 MedGen:CN169374 2 151633944 151633944 A G 228543 single nucleotide variant NM_001271208.1(NEB):c.6184-14T>A 10173335 MedGen:CN239479;MedGen:CN169374 2 152512992 152512992 A T 228543 single nucleotide variant NM_001271208.1(NEB):c.6184-14T>A 10173335 MedGen:CN239479;MedGen:CN169374 2 151656478 151656478 A T 228544 single nucleotide variant NM_004543.4(NEB):c.194C>T (p.Pro65Leu) 375909006 MedGen:CN239479;MedGen:CN169374 2 151727791 151727791 G A 228544 single nucleotide variant NM_004543.4(NEB):c.194C>T (p.Pro65Leu) 375909006 MedGen:CN239479;MedGen:CN169374 2 152584305 152584305 G A 237087 single nucleotide variant NM_001271208.1(NEB):c.19944G>A (p.Ser6648=) 201553266 MedGen:CN221809 2 151551738 151551738 C T 237087 single nucleotide variant NM_001271208.1(NEB):c.19944G>A (p.Ser6648=) 201553266 MedGen:CN221809 2 152408252 152408252 C T 237127 single nucleotide variant NM_001271208.1(NEB):c.9467T>A (p.Ile3156Asn) 145770770 MedGen:CN221809;MedGen:CN169374 2 151631294 151631294 A T 237127 single nucleotide variant NM_001271208.1(NEB):c.9467T>A (p.Ile3156Asn) 145770770 MedGen:CN221809;MedGen:CN169374 2 152487808 152487808 A T 246899 single nucleotide variant NM_001271208.1(NEB):c.17497G>A (p.Val5833Ile) 149881695 MedGen:CN239479;MedGen:CN169374 2 151569306 151569306 C T 246899 single nucleotide variant NM_001271208.1(NEB):c.17497G>A (p.Val5833Ile) 149881695 MedGen:CN239479;MedGen:CN169374 2 152425820 152425820 C T 246900 single nucleotide variant NM_001271208.1(NEB):c.11032C>G (p.Pro3678Ala) 879255369 MedGen:CN169374 2 151618319 151618319 G C 246900 single nucleotide variant NM_001271208.1(NEB):c.11032C>G (p.Pro3678Ala) 879255369 MedGen:CN169374 2 152474833 152474833 G C 246901 single nucleotide variant NM_001271208.1(NEB):c.8801G>A (p.Arg2934His) 200307392 MedGen:CN169374 2 152496459 152496459 C T 246901 single nucleotide variant NM_001271208.1(NEB):c.8801G>A (p.Arg2934His) 200307392 MedGen:CN169374 2 151639945 151639945 C T 250177 duplication NM_001271208.1(NEB):c.25510-17dupT 148839798 MedGen:CN169374 2 152342464 152342464 A AA 250177 duplication NM_001271208.1(NEB):c.25510-17dupT 148839798 MedGen:CN169374 2 151485950 151485950 A AA 250178 single nucleotide variant NM_001271208.1(NEB):c.25510-34T>C 16830090 MedGen:CN169374 2 151485967 151485967 A G 250178 single nucleotide variant NM_001271208.1(NEB):c.25510-34T>C 16830090 MedGen:CN169374 2 152342481 152342481 A G 250179 single nucleotide variant NM_001271208.1(NEB):c.24979-47A>T 2288193 MedGen:CN169374 2 152348842 152348842 T A 250179 single nucleotide variant NM_001271208.1(NEB):c.24979-47A>T 2288193 MedGen:CN169374 2 151492328 151492328 T A 250180 single nucleotide variant NM_001271208.1(NEB):c.24778-20T>C 886038450 MedGen:CN169374 2 151493465 151493465 A G 250180 single nucleotide variant NM_001271208.1(NEB):c.24778-20T>C 886038450 MedGen:CN169374 2 152349979 152349979 A G 250181 single nucleotide variant NM_001271208.1(NEB):c.24213T>C (p.Phe8071=) 748169663 MedGen:CN169374 2 151499304 151499304 A G 250181 single nucleotide variant NM_001271208.1(NEB):c.24213T>C (p.Phe8071=) 748169663 MedGen:CN169374 2 152355818 152355818 A G 250182 single nucleotide variant NM_001271208.1(NEB):c.24163A>G (p.Ile8055Val) 144634228 MedGen:CN169374 2 152355868 152355868 T C 250182 single nucleotide variant NM_001271208.1(NEB):c.24163A>G (p.Ile8055Val) 144634228 MedGen:CN169374 2 151499354 151499354 T C 250183 single nucleotide variant NM_001271208.1(NEB):c.24034-45A>G 115394251 MedGen:CN169374 2 151501528 151501528 T C 250183 single nucleotide variant NM_001271208.1(NEB):c.24034-45A>G 115394251 MedGen:CN169374 2 152358042 152358042 T C 250184 duplication NM_001271208.1(NEB):c.23347-50_23347-47dupTGTT 142314464 MedGen:CN169374 2 152369398 152369401 AACA AACAAACA 250184 duplication NM_001271208.1(NEB):c.23347-50_23347-47dupTGTT 142314464 MedGen:CN169374 2 151512884 151512887 AACA AACAAACA 250185 single nucleotide variant NM_001271208.1(NEB):c.23346+42T>C 16830128 MedGen:CN169374 2 152370052 152370052 A G 250185 single nucleotide variant NM_001271208.1(NEB):c.23346+42T>C 16830128 MedGen:CN169374 2 151513538 151513538 A G 250186 single nucleotide variant NM_001271208.1(NEB):c.23290G>A (p.Ala7764Thr) 886038449 MedGen:CN169374 2 152370150 152370150 C T 250186 single nucleotide variant NM_001271208.1(NEB):c.23290G>A (p.Ala7764Thr) 886038449 MedGen:CN169374 2 151513636 151513636 C T 250187 single nucleotide variant NM_001271208.1(NEB):c.23246G>A (p.Arg7749Gln) 200963111 MedGen:CN169374 2 152370194 152370194 C T 250187 single nucleotide variant NM_001271208.1(NEB):c.23246G>A (p.Arg7749Gln) 200963111 MedGen:CN169374 2 151513680 151513680 C T 250188 single nucleotide variant NM_001271208.1(NEB):c.23122-21T>C 150471104 MedGen:CN169374 2 152370963 152370963 A G 250188 single nucleotide variant NM_001271208.1(NEB):c.23122-21T>C 150471104 MedGen:CN169374 2 151514449 151514449 A G 250189 single nucleotide variant NM_001271208.1(NEB):c.22905+32C>T 16830136 MedGen:CN169374 2 151518286 151518286 G A 250189 single nucleotide variant NM_001271208.1(NEB):c.22905+32C>T 16830136 MedGen:CN169374 2 152374800 152374800 G A 250190 single nucleotide variant NM_001271208.1(NEB):c.22800+40C>T 886038448 MedGen:CN169374 2 151518925 151518925 G A 250190 single nucleotide variant NM_001271208.1(NEB):c.22800+40C>T 886038448 MedGen:CN169374 2 152375439 152375439 G A 250191 single nucleotide variant NM_001271208.1(NEB):c.21945+13A>C 75515097 MedGen:CN239479;MedGen:CN169374 2 152383982 152383982 T G 250191 single nucleotide variant NM_001271208.1(NEB):c.21945+13A>C 75515097 MedGen:CN239479;MedGen:CN169374 2 151527468 151527468 T G 250192 single nucleotide variant NM_001271208.1(NEB):c.21511A>T (p.Met7171Leu) 886038447 MedGen:CN169374 2 151533453 151533453 T A 250192 single nucleotide variant NM_001271208.1(NEB):c.21511A>T (p.Met7171Leu) 886038447 MedGen:CN169374 2 152389967 152389967 T A 250193 single nucleotide variant NM_001271208.1(NEB):c.21487T>C (p.Leu7163=) 114218081 MedGen:CN169374 2 152389991 152389991 A G 250193 single nucleotide variant NM_001271208.1(NEB):c.21487T>C (p.Leu7163=) 114218081 MedGen:CN169374 2 151533477 151533477 A G 250194 single nucleotide variant NM_001271208.1(NEB):c.20998-44A>C 3732310 MedGen:CN169374 2 152394534 152394534 T G 250194 single nucleotide variant NM_001271208.1(NEB):c.20998-44A>C 3732310 MedGen:CN169374 2 151538020 151538020 T G 250195 single nucleotide variant NM_001271208.1(NEB):c.20998-49C>T 374484102 MedGen:CN169374 2 152394539 152394539 G A 250195 single nucleotide variant NM_001271208.1(NEB):c.20998-49C>T 374484102 MedGen:CN169374 2 151538025 151538025 G A 250196 single nucleotide variant NM_001271208.1(NEB):c.20466+11A>G 181826071 MedGen:CN169374 2 152402848 152402848 T C 250196 single nucleotide variant NM_001271208.1(NEB):c.20466+11A>G 181826071 MedGen:CN169374 2 151546334 151546334 T C 250197 single nucleotide variant NM_001271208.1(NEB):c.20263-18G>A 377143618 MedGen:CN169374 2 152404065 152404065 C T 250197 single nucleotide variant NM_001271208.1(NEB):c.20263-18G>A 377143618 MedGen:CN169374 2 151547551 151547551 C T 250198 single nucleotide variant NM_001271208.1(NEB):c.20158-42G>A 2288201 MedGen:CN169374 2 152404294 152404294 C T 250198 single nucleotide variant NM_001271208.1(NEB):c.20158-42G>A 2288201 MedGen:CN169374 2 151547780 151547780 C T 250199 single nucleotide variant NM_001271208.1(NEB):c.19732-39G>C 144077905 MedGen:CN169374 2 152409329 152409329 C G 250199 single nucleotide variant NM_001271208.1(NEB):c.19732-39G>C 144077905 MedGen:CN169374 2 151552815 151552815 C G 250200 single nucleotide variant NM_001271208.1(NEB):c.19482C>T (p.Pro6494=) 200333206 MedGen:CN169374 2 151553972 151553972 G A 250200 single nucleotide variant NM_001271208.1(NEB):c.19482C>T (p.Pro6494=) 200333206 MedGen:CN169374 2 152410486 152410486 G A 250201 single nucleotide variant NM_001271208.1(NEB):c.19429-28T>A 756969318 MedGen:CN169374 2 152410567 152410567 A T 250201 single nucleotide variant NM_001271208.1(NEB):c.19429-28T>A 756969318 MedGen:CN169374 2 151554053 151554053 A T 250202 single nucleotide variant NM_001271208.1(NEB):c.19314+42C>T 2288206 MedGen:CN169374 2 152417064 152417064 G A 250202 single nucleotide variant NM_001271208.1(NEB):c.19314+42C>T 2288206 MedGen:CN169374 2 151560550 151560550 G A 250203 single nucleotide variant NM_001271208.1(NEB):c.19206+46C>A 76261031 MedGen:CN169374 2 152417472 152417472 G T 250203 single nucleotide variant NM_001271208.1(NEB):c.19206+46C>A 76261031 MedGen:CN169374 2 151560958 151560958 G T 250204 single nucleotide variant NM_001271208.1(NEB):c.19101+41C>T 4364020 MedGen:CN169374 2 152417681 152417681 G A 250204 single nucleotide variant NM_001271208.1(NEB):c.19101+41C>T 4364020 MedGen:CN169374 2 151561167 151561167 G A 250205 single nucleotide variant NM_001271208.1(NEB):c.18861C>T (p.Arg6287=) 146294986 MedGen:CN169374 2 152419155 152419155 G A 250205 single nucleotide variant NM_001271208.1(NEB):c.18861C>T (p.Arg6287=) 146294986 MedGen:CN169374 2 151562641 151562641 G A 250206 single nucleotide variant NM_001271208.1(NEB):c.18692C>T (p.Ala6231Val) 375357016 MedGen:CN169374 2 151563607 151563607 G A 250206 single nucleotide variant NM_001271208.1(NEB):c.18692C>T (p.Ala6231Val) 375357016 MedGen:CN169374 2 152420121 152420121 G A 250207 single nucleotide variant NM_001271208.1(NEB):c.18580-32C>T 62174683 MedGen:CN169374 2 152420265 152420265 G A 250207 single nucleotide variant NM_001271208.1(NEB):c.18580-32C>T 62174683 MedGen:CN169374 2 151563751 151563751 G A 250208 single nucleotide variant NM_001271208.1(NEB):c.18157-20A>G 747415022 MedGen:CN169374 2 152422354 152422354 T C 250208 single nucleotide variant NM_001271208.1(NEB):c.18157-20A>G 747415022 MedGen:CN169374 2 151565840 151565840 T C 250209 single nucleotide variant NM_001271208.1(NEB):c.17736+36C>T 371183779 MedGen:CN169374 2 152424794 152424794 G A 250209 single nucleotide variant NM_001271208.1(NEB):c.17736+36C>T 371183779 MedGen:CN169374 2 151568280 151568280 G A 250210 single nucleotide variant NM_001271208.1(NEB):c.17049G>T (p.Ala5683=) 140688592 MedGen:CN239479;MedGen:CN169374 2 151570566 151570566 C A 250210 single nucleotide variant NM_001271208.1(NEB):c.17049G>T (p.Ala5683=) 140688592 MedGen:CN239479;MedGen:CN169374 2 152427080 152427080 C A 250211 single nucleotide variant NM_001271208.1(NEB):c.16788C>T (p.Asn5596=) 186902443 MedGen:CN169374 2 151576271 151576271 G A 250211 single nucleotide variant NM_001271208.1(NEB):c.16788C>T (p.Asn5596=) 186902443 MedGen:CN169374 2 152432785 152432785 G A 250212 single nucleotide variant NM_001271208.1(NEB):c.16704+12G>C 62174689 MedGen:CN169374 2 152435840 152435840 C G 250212 single nucleotide variant NM_001271208.1(NEB):c.16704+12G>C 62174689 MedGen:CN169374 2 151579326 151579326 C G 250213 single nucleotide variant NM_001271208.1(NEB):c.16637G>A (p.Arg5546His) 201111610 MedGen:CN169374 2 152435919 152435919 C T 250213 single nucleotide variant NM_001271208.1(NEB):c.16637G>A (p.Arg5546His) 201111610 MedGen:CN169374 2 151579405 151579405 C T 250214 single nucleotide variant NM_001271208.1(NEB):c.16544A>C (p.Lys5515Thr) 62174690 MedGen:CN169374 2 151579498 151579498 T G 250214 single nucleotide variant NM_001271208.1(NEB):c.16544A>C (p.Lys5515Thr) 62174690 MedGen:CN169374 2 152436012 152436012 T G 250215 single nucleotide variant NM_001271208.1(NEB):c.16542C>G (p.Ala5514=) 200602229 MedGen:CN169374 2 152436014 152436014 G C 250215 single nucleotide variant NM_001271208.1(NEB):c.16542C>G (p.Ala5514=) 200602229 MedGen:CN169374 2 151579500 151579500 G C 250216 single nucleotide variant NM_001271208.1(NEB):c.16450G>A (p.Ala5484Thr) 536508687 MedGen:CN169374 2 152436106 152436106 C T 250216 single nucleotide variant NM_001271208.1(NEB):c.16450G>A (p.Ala5484Thr) 536508687 MedGen:CN169374 2 151579592 151579592 C T 250217 single nucleotide variant NM_001271208.1(NEB):c.16449C>T (p.Ser5483=) 546992311 MedGen:CN169374 2 152436107 152436107 G A 250217 single nucleotide variant NM_001271208.1(NEB):c.16449C>T (p.Ser5483=) 546992311 MedGen:CN169374 2 151579593 151579593 G A 250218 single nucleotide variant NM_001271208.1(NEB):c.16392C>T (p.Asp5464=) 886038446 MedGen:CN169374 2 151580797 151580797 G A 250218 single nucleotide variant NM_001271208.1(NEB):c.16392C>T (p.Asp5464=) 886038446 MedGen:CN169374 2 152437311 152437311 G A 250219 single nucleotide variant NM_001271208.1(NEB):c.16284+11A>G 367881797 MedGen:CN169374 2 152437986 152437986 T C 250219 single nucleotide variant NM_001271208.1(NEB):c.16284+11A>G 367881797 MedGen:CN169374 2 151581472 151581472 T C 250220 single nucleotide variant NM_001271208.1(NEB):c.16269C>T (p.Ala5423=) 542916866 MedGen:CN169374 2 151581498 151581498 G A 250220 single nucleotide variant NM_001271208.1(NEB):c.16269C>T (p.Ala5423=) 542916866 MedGen:CN169374 2 152438012 152438012 G A 250221 single nucleotide variant NM_001271208.1(NEB):c.16192G>A (p.Asp5398Asn) 750810441 MedGen:CN169374 2 151581575 151581575 C T 250221 single nucleotide variant NM_001271208.1(NEB):c.16192G>A (p.Asp5398Asn) 750810441 MedGen:CN169374 2 152438089 152438089 C T 250222 single nucleotide variant NM_001271208.1(NEB):c.16021T>C (p.Leu5341=) 796103760 MedGen:CN169374 2 152439136 152439136 A G 250222 single nucleotide variant NM_001271208.1(NEB):c.16021T>C (p.Leu5341=) 796103760 MedGen:CN169374 2 151582622 151582622 A G 250223 single nucleotide variant NM_001271208.1(NEB):c.15821A>T (p.Asn5274Ile) 45612241 MedGen:CN169374 2 152440123 152440123 T A 250223 single nucleotide variant NM_001271208.1(NEB):c.15821A>T (p.Asn5274Ile) 45612241 MedGen:CN169374 2 151583609 151583609 T A 250224 single nucleotide variant NM_001271208.1(NEB):c.15246+12C>G 886038445 MedGen:CN169374 2 152446391 152446391 G C 250224 single nucleotide variant NM_001271208.1(NEB):c.15246+12C>G 886038445 MedGen:CN169374 2 151589877 151589877 G C 250225 single nucleotide variant NM_001271208.1(NEB):c.15179A>G (p.His5060Arg) 886038444 MedGen:CN169374 2 152446470 152446470 T C 250225 single nucleotide variant NM_001271208.1(NEB):c.15179A>G (p.His5060Arg) 886038444 MedGen:CN169374 2 151589956 151589956 T C 250226 single nucleotide variant NM_001271208.1(NEB):c.15086A>C (p.Lys5029Thr) 200053313 MedGen:CN169374 2 152446563 152446563 T G 250226 single nucleotide variant NM_001271208.1(NEB):c.15086A>C (p.Lys5029Thr) 200053313 MedGen:CN169374 2 151590049 151590049 T G 250227 insertion NM_001271208.1(NEB):c.14934+16_14934+17insG 11436831 MedGen:CN169374 2 152447845 152447846 - C 250227 insertion NM_001271208.1(NEB):c.14934+16_14934+17insG 11436831 MedGen:CN169374 2 151591331 151591332 - C 250228 single nucleotide variant NM_001271208.1(NEB):c.14934T>C (p.Asp4978=) 886038443 MedGen:CN169374 2 151591348 151591348 A G 250228 single nucleotide variant NM_001271208.1(NEB):c.14934T>C (p.Asp4978=) 886038443 MedGen:CN169374 2 152447862 152447862 A G 250229 single nucleotide variant NM_001271208.1(NEB):c.14914T>A (p.Ser4972Thr) 776187492 MedGen:CN169374 2 151591368 151591368 A T 250229 single nucleotide variant NM_001271208.1(NEB):c.14914T>A (p.Ser4972Thr) 776187492 MedGen:CN169374 2 152447882 152447882 A T 250230 single nucleotide variant NM_001271208.1(NEB):c.14826+11G>A 71415152 MedGen:CN169374 2 151592023 151592023 C T 250230 single nucleotide variant NM_001271208.1(NEB):c.14826+11G>A 71415152 MedGen:CN169374 2 152448537 152448537 C T 250231 single nucleotide variant NM_001271208.1(NEB):c.14826+10C>T 769453286 MedGen:CN169374 2 152448538 152448538 G A 250231 single nucleotide variant NM_001271208.1(NEB):c.14826+10C>T 769453286 MedGen:CN169374 2 151592024 151592024 G A 250232 single nucleotide variant NM_001271208.1(NEB):c.14811T>C (p.Ala4937=) 71415153 MedGen:CN169374 2 152448563 152448563 A G 250232 single nucleotide variant NM_001271208.1(NEB):c.14811T>C (p.Ala4937=) 71415153 MedGen:CN169374 2 151592049 151592049 A G 250233 single nucleotide variant NM_001271208.1(NEB):c.14785C>T (p.Leu4929=) 554231162 MedGen:CN169374 2 152448589 152448589 G A 250233 single nucleotide variant NM_001271208.1(NEB):c.14785C>T (p.Leu4929=) 554231162 MedGen:CN169374 2 151592075 151592075 G A 250234 single nucleotide variant NM_001271208.1(NEB):c.14734A>G (p.Asn4912Asp) 10909569 MedGen:CN169374 2 151592126 151592126 T C 250234 single nucleotide variant NM_001271208.1(NEB):c.14734A>G (p.Asn4912Asp) 10909569 MedGen:CN169374 2 152448640 152448640 T C 250235 single nucleotide variant NM_001271208.1(NEB):c.14633G>A (p.Arg4878His) 886038442 MedGen:CN169374 2 151593104 151593104 C T 250235 single nucleotide variant NM_001271208.1(NEB):c.14633G>A (p.Arg4878His) 886038442 MedGen:CN169374 2 152449618 152449618 C T 250236 single nucleotide variant NM_001271208.1(NEB):c.13941C>T (p.Val4647=) 886038441 MedGen:CN169374 2 152454492 152454492 G A 250236 single nucleotide variant NM_001271208.1(NEB):c.13941C>T (p.Val4647=) 886038441 MedGen:CN169374 2 151597978 151597978 G A 250237 single nucleotide variant NM_001271208.1(NEB):c.13753A>G (p.Ile4585Val) 886038440 MedGen:CN169374 2 151600477 151600477 T C 250237 single nucleotide variant NM_001271208.1(NEB):c.13753A>G (p.Ile4585Val) 886038440 MedGen:CN169374 2 152456991 152456991 T C 250238 single nucleotide variant NM_001271208.1(NEB):c.13680G>C (p.Gln4560His) 886038439 MedGen:CN169374 2 152457064 152457064 C G 250238 single nucleotide variant NM_001271208.1(NEB):c.13680G>C (p.Gln4560His) 886038439 MedGen:CN169374 2 151600550 151600550 C G 250239 single nucleotide variant NM_001271208.1(NEB):c.13626C>G (p.Ala4542=) 201225445 MedGen:CN169374 2 151600604 151600604 G C 250239 single nucleotide variant NM_001271208.1(NEB):c.13626C>G (p.Ala4542=) 201225445 MedGen:CN169374 2 152457118 152457118 G C 250240 single nucleotide variant NM_001271208.1(NEB):c.13598A>T (p.Tyr4533Phe) 886038437 MedGen:CN169374 2 152457146 152457146 T A 250240 single nucleotide variant NM_001271208.1(NEB):c.13598A>T (p.Tyr4533Phe) 886038437 MedGen:CN169374 2 151600632 151600632 T A 250241 single nucleotide variant NM_001271208.1(NEB):c.13596G>A (p.Leu4532=) 886038436 MedGen:CN169374 2 152457148 152457148 C T 250241 single nucleotide variant NM_001271208.1(NEB):c.13596G>A (p.Leu4532=) 886038436 MedGen:CN169374 2 151600634 151600634 C T 250242 single nucleotide variant NM_001271208.1(NEB):c.13534G>A (p.Ala4512Thr) 886038435 MedGen:CN169374 2 152457210 152457210 C T 250242 single nucleotide variant NM_001271208.1(NEB):c.13534G>A (p.Ala4512Thr) 886038435 MedGen:CN169374 2 151600696 151600696 C T 250243 single nucleotide variant NM_001271208.1(NEB):c.13456T>A (p.Ser4486Thr) 886038434 MedGen:CN169374 2 152458435 152458435 A T 250243 single nucleotide variant NM_001271208.1(NEB):c.13456T>A (p.Ser4486Thr) 886038434 MedGen:CN169374 2 151601921 151601921 A T 250244 single nucleotide variant NM_001271208.1(NEB):c.13368+6A>G 886038433 MedGen:CN169374 2 152459095 152459095 T C 250244 single nucleotide variant NM_001271208.1(NEB):c.13368+6A>G 886038433 MedGen:CN169374 2 151602581 151602581 T C 250245 single nucleotide variant NM_001271208.1(NEB):c.13264-18G>A 886038432 MedGen:CN169374 2 152459223 152459223 C T 250245 single nucleotide variant NM_001271208.1(NEB):c.13264-18G>A 886038432 MedGen:CN169374 2 151602709 151602709 C T 250246 single nucleotide variant NM_001271208.1(NEB):c.13081G>A (p.Glu4361Lys) 202017360 MedGen:CN169374 2 152460265 152460265 C T 250246 single nucleotide variant NM_001271208.1(NEB):c.13081G>A (p.Glu4361Lys) 202017360 MedGen:CN169374 2 151603751 151603751 C T 250247 single nucleotide variant NM_001271208.1(NEB):c.13047C>T (p.Asp4349=) 886038431 MedGen:CN169374 2 152461086 152461086 G A 250247 single nucleotide variant NM_001271208.1(NEB):c.13047C>T (p.Asp4349=) 886038431 MedGen:CN169374 2 151604572 151604572 G A 250248 single nucleotide variant NM_001271208.1(NEB):c.12912G>A (p.Pro4304=) 886038430 MedGen:CN169374 2 152461221 152461221 C T 250248 single nucleotide variant NM_001271208.1(NEB):c.12912G>A (p.Pro4304=) 886038430 MedGen:CN169374 2 151604707 151604707 C T 250249 single nucleotide variant NM_001271208.1(NEB):c.12905A>T (p.Asn4302Ile) 886038429 MedGen:CN169374 2 152461228 152461228 T A 250249 single nucleotide variant NM_001271208.1(NEB):c.12905A>T (p.Asn4302Ile) 886038429 MedGen:CN169374 2 151604714 151604714 T A 250250 single nucleotide variant NM_001271208.1(NEB):c.12018+29G>A 11902616 MedGen:CN169374 2 151610487 151610487 C T 250250 single nucleotide variant NM_001271208.1(NEB):c.12018+29G>A 11902616 MedGen:CN169374 2 152467001 152467001 C T 250251 single nucleotide variant NM_001271208.1(NEB):c.11911-17T>C 144836165 MedGen:CN169374 2 151610640 151610640 A G 250251 single nucleotide variant NM_001271208.1(NEB):c.11911-17T>C 144836165 MedGen:CN169374 2 152467154 152467154 A G 250252 single nucleotide variant NM_001271208.1(NEB):c.11806-7C>A 779713133 MedGen:CN169374 2 152467387 152467387 G T 250252 single nucleotide variant NM_001271208.1(NEB):c.11806-7C>A 779713133 MedGen:CN169374 2 151610873 151610873 G T 250253 single nucleotide variant NM_001271208.1(NEB):c.11133T>C (p.Asp3711=) 547109690 MedGen:CN239479;MedGen:CN169374 2 151617412 151617412 A G 250253 single nucleotide variant NM_001271208.1(NEB):c.11133T>C (p.Asp3711=) 547109690 MedGen:CN239479;MedGen:CN169374 2 152473926 152473926 A G 250254 single nucleotide variant NM_001271208.1(NEB):c.11043G>A (p.Val3681=) 886038428 MedGen:CN169374 2 151618308 151618308 C T 250254 single nucleotide variant NM_001271208.1(NEB):c.11043G>A (p.Val3681=) 886038428 MedGen:CN169374 2 152474822 152474822 C T 250255 single nucleotide variant NM_001271208.1(NEB):c.10872+27A>C 10186656 MedGen:CN169374 2 151619424 151619424 T G 250255 single nucleotide variant NM_001271208.1(NEB):c.10872+27A>C 10186656 MedGen:CN169374 2 152475938 152475938 T G 250256 single nucleotide variant NM_001271208.1(NEB):c.10609G>A (p.Ala3537Thr) 556492694 MedGen:CN169374 2 151619714 151619714 C T 250256 single nucleotide variant NM_001271208.1(NEB):c.10609G>A (p.Ala3537Thr) 556492694 MedGen:CN169374 2 152476228 152476228 C T 250257 single nucleotide variant NM_001271208.1(NEB):c.10347+6C>T 141088433 MedGen:CN169374 2 152483510 152483510 G A 250257 single nucleotide variant NM_001271208.1(NEB):c.10347+6C>T 141088433 MedGen:CN169374 2 151626996 151626996 G A 250258 single nucleotide variant NM_001271208.1(NEB):c.10344C>T (p.Asn3448=) 145052299 MedGen:CN169374 2 152483519 152483519 G A 250258 single nucleotide variant NM_001271208.1(NEB):c.10344C>T (p.Asn3448=) 145052299 MedGen:CN169374 2 151627005 151627005 G A 250259 single nucleotide variant NM_001271208.1(NEB):c.10338T>C (p.Asn3446=) 147569843 MedGen:CN169374 2 152483525 152483525 A G 250259 single nucleotide variant NM_001271208.1(NEB):c.10338T>C (p.Asn3446=) 147569843 MedGen:CN169374 2 151627011 151627011 A G 250260 single nucleotide variant NM_001271208.1(NEB):c.9352A>T (p.Thr3118Ser) 543100735 MedGen:CN169374 2 152490230 152490230 T A 250260 single nucleotide variant NM_001271208.1(NEB):c.9352A>T (p.Thr3118Ser) 543100735 MedGen:CN169374 2 151633716 151633716 T A 250261 single nucleotide variant NM_001271208.1(NEB):c.9155G>A (p.Arg3052Gln) 201176993 MedGen:CN169374 2 151633913 151633913 C T 250261 single nucleotide variant NM_001271208.1(NEB):c.9155G>A (p.Arg3052Gln) 201176993 MedGen:CN169374 2 152490427 152490427 C T 250262 single nucleotide variant NM_001271208.1(NEB):c.9072G>A (p.Ala3024=) 369897667 MedGen:CN169374 2 151636257 151636257 C T 250262 single nucleotide variant NM_001271208.1(NEB):c.9072G>A (p.Ala3024=) 369897667 MedGen:CN169374 2 152492771 152492771 C T 250263 single nucleotide variant NM_001271208.1(NEB):c.9071C>T (p.Ala3024Val) 143933602 MedGen:CN169374 2 152492772 152492772 G A 250263 single nucleotide variant NM_001271208.1(NEB):c.9071C>T (p.Ala3024Val) 143933602 MedGen:CN169374 2 151636258 151636258 G A 250264 single nucleotide variant NM_001271208.1(NEB):c.9052G>A (p.Asp3018Asn) 192098032 MedGen:CN169374 2 152492791 152492791 C T 250264 single nucleotide variant NM_001271208.1(NEB):c.9052G>A (p.Asp3018Asn) 192098032 MedGen:CN169374 2 151636277 151636277 C T 250265 single nucleotide variant NM_001271208.1(NEB):c.8646C>T (p.Asp2882=) 61730773 MedGen:CN169374 2 152496908 152496908 G A 250265 single nucleotide variant NM_001271208.1(NEB):c.8646C>T (p.Asp2882=) 61730773 MedGen:CN169374 2 151640394 151640394 G A 250266 single nucleotide variant NM_001271208.1(NEB):c.8335A>G (p.Ile2779Val) 114853127 MedGen:CN239479;MedGen:CN169374 2 151642612 151642612 T C 250266 single nucleotide variant NM_001271208.1(NEB):c.8335A>G (p.Ile2779Val) 114853127 MedGen:CN239479;MedGen:CN169374 2 152499126 152499126 T C 250267 single nucleotide variant NM_001271208.1(NEB):c.7644+25T>C 78226234 MedGen:CN169374 2 151644443 151644443 A G 250267 single nucleotide variant NM_001271208.1(NEB):c.7644+25T>C 78226234 MedGen:CN169374 2 152500957 152500957 A G 250268 single nucleotide variant NM_001271208.1(NEB):c.7581C>T (p.Tyr2527=) 200425929 MedGen:CN169374 2 152501045 152501045 G A 250268 single nucleotide variant NM_001271208.1(NEB):c.7581C>T (p.Tyr2527=) 200425929 MedGen:CN169374 2 151644531 151644531 G A 250269 single nucleotide variant NM_001271208.1(NEB):c.7126G>C (p.Val2376Leu) 141155976 MedGen:CN239479;MedGen:CN169374 2 151650675 151650675 C G 250269 single nucleotide variant NM_001271208.1(NEB):c.7126G>C (p.Val2376Leu) 141155976 MedGen:CN239479;MedGen:CN169374 2 152507189 152507189 C G 250270 single nucleotide variant NM_001271208.1(NEB):c.6869C>T (p.Ala2290Val) 756114192 MedGen:CN169374 2 151654038 151654038 G A 250270 single nucleotide variant NM_001271208.1(NEB):c.6869C>T (p.Ala2290Val) 756114192 MedGen:CN169374 2 152510552 152510552 G A 250271 single nucleotide variant NM_001271208.1(NEB):c.6559C>T (p.Leu2187=) 369413888 MedGen:CN169374 2 152512474 152512474 G A 250271 single nucleotide variant NM_001271208.1(NEB):c.6559C>T (p.Leu2187=) 369413888 MedGen:CN169374 2 151655960 151655960 G A 250272 single nucleotide variant NM_001271208.1(NEB):c.6449C>T (p.Ala2150Val) 375256600 MedGen:CN239479;MedGen:CN169374 2 151656199 151656199 G A 250272 single nucleotide variant NM_001271208.1(NEB):c.6449C>T (p.Ala2150Val) 375256600 MedGen:CN239479;MedGen:CN169374 2 152512713 152512713 G A 250273 single nucleotide variant NM_001271208.1(NEB):c.6381T>A (p.Asp2127Glu) 368302286 MedGen:CN169374 2 152512781 152512781 A T 250273 single nucleotide variant NM_001271208.1(NEB):c.6381T>A (p.Asp2127Glu) 368302286 MedGen:CN169374 2 151656267 151656267 A T 250274 single nucleotide variant NM_001271208.1(NEB):c.5802C>T (p.Gly1934=) 139963368 MedGen:CN169374 2 152518817 152518817 G A 250274 single nucleotide variant NM_001271208.1(NEB):c.5802C>T (p.Gly1934=) 139963368 MedGen:CN169374 2 151662303 151662303 G A 250275 single nucleotide variant NM_001271208.1(NEB):c.5763+35T>C 12620077 MedGen:CN169374 2 152520027 152520027 A G 250275 single nucleotide variant NM_001271208.1(NEB):c.5763+35T>C 12620077 MedGen:CN169374 2 151663513 151663513 A G 250276 single nucleotide variant NM_001271208.1(NEB):c.5763+27G>A 373166434 MedGen:CN169374 2 151663521 151663521 C T 250276 single nucleotide variant NM_001271208.1(NEB):c.5763+27G>A 373166434 MedGen:CN169374 2 152520035 152520035 C T 250277 single nucleotide variant NM_001271208.1(NEB):c.5763+15C>T 148455519 MedGen:CN239479;MedGen:CN169374 2 152520047 152520047 G A 250277 single nucleotide variant NM_001271208.1(NEB):c.5763+15C>T 148455519 MedGen:CN239479;MedGen:CN169374 2 151663533 151663533 G A 250278 single nucleotide variant NM_001271208.1(NEB):c.5718C>T (p.Ala1906=) 115379999 MedGen:CN169374 2 151663593 151663593 G A 250278 single nucleotide variant NM_001271208.1(NEB):c.5718C>T (p.Ala1906=) 115379999 MedGen:CN169374 2 152520107 152520107 G A 250279 single nucleotide variant NM_001271208.1(NEB):c.5376G>A (p.Lys1792=) 886038453 MedGen:CN169374 2 152521090 152521090 C T 250279 single nucleotide variant NM_001271208.1(NEB):c.5376G>A (p.Lys1792=) 886038453 MedGen:CN169374 2 151664576 151664576 C T 250280 single nucleotide variant NM_001271208.1(NEB):c.5225T>G (p.Leu1742Arg) 202113159 MedGen:CN169374 2 152521860 152521860 A C 250280 single nucleotide variant NM_001271208.1(NEB):c.5225T>G (p.Leu1742Arg) 202113159 MedGen:CN169374 2 151665346 151665346 A C 250281 single nucleotide variant NM_001271208.1(NEB):c.5031+48A>G 4664496 MedGen:CN169374 2 151666042 151666042 T C 250281 single nucleotide variant NM_001271208.1(NEB):c.5031+48A>G 4664496 MedGen:CN169374 2 152522556 152522556 T C 250282 single nucleotide variant NM_001271208.1(NEB):c.4466G>A (p.Gly1489Asp) 74482326 MedGen:CN169374 2 152527577 152527577 C T 250282 single nucleotide variant NM_001271208.1(NEB):c.4466G>A (p.Gly1489Asp) 74482326 MedGen:CN169374 2 151671063 151671063 C T 250283 single nucleotide variant NM_001271208.1(NEB):c.4206T>A (p.Asn1402Lys) 201169452 MedGen:CN169374 2 152528976 152528976 A T 250283 single nucleotide variant NM_001271208.1(NEB):c.4206T>A (p.Asn1402Lys) 201169452 MedGen:CN169374 2 151672462 151672462 A T 250284 single nucleotide variant NM_001271208.1(NEB):c.3778T>C (p.Leu1260=) 886038452 MedGen:CN221809;MedGen:CN169374 2 151675388 151675388 A G 250284 single nucleotide variant NM_001271208.1(NEB):c.3778T>C (p.Leu1260=) 886038452 MedGen:CN221809;MedGen:CN169374 2 152531902 152531902 A G 250285 single nucleotide variant NM_001271208.1(NEB):c.3775-18A>G 777446803 MedGen:CN169374 2 152531923 152531923 T C 250285 single nucleotide variant NM_001271208.1(NEB):c.3775-18A>G 777446803 MedGen:CN169374 2 151675409 151675409 T C 250286 single nucleotide variant NM_001271208.1(NEB):c.3639C>T (p.Val1213=) 74320183 MedGen:CN169374 2 151677700 151677700 G A 250286 single nucleotide variant NM_001271208.1(NEB):c.3639C>T (p.Val1213=) 74320183 MedGen:CN169374 2 152534214 152534214 G A 250287 single nucleotide variant NM_001271208.1(NEB):c.3567+13T>C 886038451 MedGen:CN169374 2 151677863 151677863 A G 250287 single nucleotide variant NM_001271208.1(NEB):c.3567+13T>C 886038451 MedGen:CN169374 2 152534377 152534377 A G 250288 single nucleotide variant NM_001271208.1(NEB):c.3373G>C (p.Glu1125Gln) 757784515 MedGen:CN169374 2 151678070 151678070 C G 250288 single nucleotide variant NM_001271208.1(NEB):c.3373G>C (p.Glu1125Gln) 757784515 MedGen:CN169374 2 152534584 152534584 C G 250289 deletion NM_001271208.1(NEB):c.3043-37_3043-33delCTTTA 553020641 MedGen:CN169374 2 151680055 151680059 TAAAG - 250289 deletion NM_001271208.1(NEB):c.3043-37_3043-33delCTTTA 553020641 MedGen:CN169374 2 152536569 152536573 TAAAG - 250290 single nucleotide variant NM_001271208.1(NEB):c.2781C>G (p.Pro927=) 745481666 MedGen:CN169374 2 151684832 151684832 G C 250290 single nucleotide variant NM_001271208.1(NEB):c.2781C>G (p.Pro927=) 745481666 MedGen:CN169374 2 152541346 152541346 G C 250291 single nucleotide variant NM_001271208.1(NEB):c.2318A>G (p.Tyr773Cys) 77151072 MedGen:CN239479;MedGen:CN169374 2 152544903 152544903 T C 250291 single nucleotide variant NM_001271208.1(NEB):c.2318A>G (p.Tyr773Cys) 77151072 MedGen:CN239479;MedGen:CN169374 2 151688389 151688389 T C 250293 single nucleotide variant NM_001271208.1(NEB):c.2310+9T>A 779165221 MedGen:CN169374 2 151690718 151690718 A T 250293 single nucleotide variant NM_001271208.1(NEB):c.2310+9T>A 779165221 MedGen:CN169374 2 152547232 152547232 A T 250294 single nucleotide variant NM_001271208.1(NEB):c.1856A>G (p.Lys619Arg) 147305883 MedGen:CN239479;MedGen:CN169374 2 151694363 151694363 T C 250294 single nucleotide variant NM_001271208.1(NEB):c.1856A>G (p.Lys619Arg) 147305883 MedGen:CN239479;MedGen:CN169374 2 152550877 152550877 T C 250295 indel NM_001271208.1(NEB):c.1675-13_1675-7delinsATTTT -1 MedGen:CN169374 2 152551150 152551156 AAAAAAA AAAAT 250295 indel NM_001271208.1(NEB):c.1675-13_1675-7delinsATTTT -1 MedGen:CN169374 2 151694636 151694642 AAAAAAA AAAAT 250296 single nucleotide variant NM_001271208.1(NEB):c.1674+30T>G 6433569 MedGen:CN169374 2 152552062 152552062 A C 250296 single nucleotide variant NM_001271208.1(NEB):c.1674+30T>G 6433569 MedGen:CN169374 2 151695548 151695548 A C 250297 single nucleotide variant NM_001271208.1(NEB):c.1569+38G>A 76127015 MedGen:CN169374 2 151696599 151696599 C T 250297 single nucleotide variant NM_001271208.1(NEB):c.1569+38G>A 76127015 MedGen:CN169374 2 152553113 152553113 C T 250298 single nucleotide variant NM_001271208.1(NEB):c.1366-4A>G 886038438 MedGen:CN221809;MedGen:CN169374 2 152553770 152553770 T C 250298 single nucleotide variant NM_001271208.1(NEB):c.1366-4A>G 886038438 MedGen:CN221809;MedGen:CN169374 2 151697256 151697256 T C 250299 single nucleotide variant NM_001271208.1(NEB):c.1152+49A>G 113401628 MedGen:CN169374 2 151706832 151706832 T C 250299 single nucleotide variant NM_001271208.1(NEB):c.1152+49A>G 113401628 MedGen:CN169374 2 152563346 152563346 T C 250300 single nucleotide variant NM_001271208.1(NEB):c.928-10T>C 886038454 MedGen:CN169374 2 152566287 152566287 A G 250300 single nucleotide variant NM_001271208.1(NEB):c.928-10T>C 886038454 MedGen:CN169374 2 151709773 151709773 A G 250301 duplication NM_001271208.1(NEB):c.822+25_822+27dupGCC 397718862 MedGen:CN169374 2 151717389 151717391 GGC GGCGGC 250301 duplication NM_001271208.1(NEB):c.822+25_822+27dupGCC 397718862 MedGen:CN169374 2 152573903 152573905 GGC GGCGGC 250302 single nucleotide variant NM_001271208.1(NEB):c.612+15C>T 112288851 MedGen:CN169374 2 151724245 151724245 G A 250302 single nucleotide variant NM_001271208.1(NEB):c.612+15C>T 112288851 MedGen:CN169374 2 152580759 152580759 G A 259696 deletion NM_001271208.1(NEB):c.24632_24633delCT (p.Pro8211Argfs) 555445835 MedGen:CN221809 2 152350726 152350727 AG - 259696 deletion NM_001271208.1(NEB):c.24632_24633delCT (p.Pro8211Argfs) 555445835 MedGen:CN221809 2 151494212 151494213 AG - 259697 single nucleotide variant NM_001271208.1(NEB):c.12018+1G>A 762278237 MedGen:CN221809 2 152467029 152467029 C T 259697 single nucleotide variant NM_001271208.1(NEB):c.12018+1G>A 762278237 MedGen:CN221809 2 151610515 151610515 C T 264014 deletion NM_001271208.1(NEB):c.24156delG (p.Ile8053Phefs) 758105619 MedGen:CN221809 2 152355875 152355875 C - 264014 deletion NM_001271208.1(NEB):c.24156delG (p.Ile8053Phefs) 758105619 MedGen:CN221809 2 151499361 151499361 C - 264035 single nucleotide variant NM_001271208.1(NEB):c.11806-1G>A 886041851 MedGen:CN221809 2 152467381 152467381 C T 264035 single nucleotide variant NM_001271208.1(NEB):c.11806-1G>A 886041851 MedGen:CN221809 2 151610867 151610867 C T 264046 deletion NM_001271208.1(NEB):c.24771delT (p.Phe8257Leufs) 886041311 MedGen:CN221809 2 152350295 152350295 A - 264046 deletion NM_001271208.1(NEB):c.24771delT (p.Phe8257Leufs) 886041311 MedGen:CN221809 2 151493781 151493781 A - 264053 single nucleotide variant NM_001271208.1(NEB):c.16620T>A (p.Tyr5540Ter) 886041998 MedGen:CN221809 2 152435936 152435936 A T 264053 single nucleotide variant NM_001271208.1(NEB):c.16620T>A (p.Tyr5540Ter) 886041998 MedGen:CN221809 2 151579422 151579422 A T 264067 single nucleotide variant NM_001271208.1(NEB):c.24219+1G>A 755239192 MedGen:CN221809 2 152355811 152355811 C T 264067 single nucleotide variant NM_001271208.1(NEB):c.24219+1G>A 755239192 MedGen:CN221809 2 151499297 151499297 C T 265343 insertion NM_001271208.1(NEB):c.167_168insTCTGGCACAGCCAGC (p.Ala61_Ser62insLeuAlaGlnProAla) 757726895 MedGen:CN169374 2 152584331 152584332 - GCTGGCTGTGCCAGA 265343 insertion NM_001271208.1(NEB):c.167_168insTCTGGCACAGCCAGC (p.Ala61_Ser62insLeuAlaGlnProAla) 757726895 MedGen:CN169374 2 151727817 151727818 - GCTGGCTGTGCCAGA 265361 single nucleotide variant NM_004543.4(NEB):c.14183C>A (p.Ala4728Asp) 139636644 MedGen:CN239479;MedGen:CN169374 2 152417134 152417134 G T 265361 single nucleotide variant NM_004543.4(NEB):c.14183C>A (p.Ala4728Asp) 139636644 MedGen:CN239479;MedGen:CN169374 2 151560620 151560620 G T 265362 single nucleotide variant NM_004543.4(NEB):c.14182G>A (p.Ala4728Thr) 149752325 MedGen:CN239479;MedGen:CN169374 2 152417135 152417135 C T 265362 single nucleotide variant NM_004543.4(NEB):c.14182G>A (p.Ala4728Thr) 149752325 MedGen:CN239479;MedGen:CN169374 2 151560621 151560621 C T 265595 single nucleotide variant NM_001271208.1(NEB):c.8202C>T (p.Val2734=) 144595998 MedGen:CN169374 2 152499342 152499342 G A 265595 single nucleotide variant NM_001271208.1(NEB):c.8202C>T (p.Val2734=) 144595998 MedGen:CN169374 2 151642828 151642828 G A 265596 single nucleotide variant NM_001271208.1(NEB):c.6704A>C (p.His2235Pro) 372800812 MedGen:CN169374 2 152511887 152511887 T G 265596 single nucleotide variant NM_001271208.1(NEB):c.6704A>C (p.His2235Pro) 372800812 MedGen:CN169374 2 151655373 151655373 T G 265599 single nucleotide variant NM_001271208.1(NEB):c.4221G>A (p.Gln1407=) 6709752 MedGen:CN169374 2 152528961 152528961 C T 265599 single nucleotide variant NM_001271208.1(NEB):c.4221G>A (p.Gln1407=) 6709752 MedGen:CN169374 2 151672447 151672447 C T 265600 single nucleotide variant NM_001271208.1(NEB):c.8553G>A (p.Gly2851=) 200624735 MedGen:CN169374 2 152497001 152497001 C T 265600 single nucleotide variant NM_001271208.1(NEB):c.8553G>A (p.Gly2851=) 200624735 MedGen:CN169374 2 151640487 151640487 C T 265605 single nucleotide variant NM_001271208.1(NEB):c.2166A>C (p.Ile722=) 886042140 MedGen:CN169374 2 152548423 152548423 T G 265605 single nucleotide variant NM_001271208.1(NEB):c.2166A>C (p.Ile722=) 886042140 MedGen:CN169374 2 151691909 151691909 T G 265606 deletion NM_001271208.1(NEB):c.18862_18872delGTCCGAAACGC (p.Val6288Profs) 886042141 MedGen:C1850569,OMIM:256030 2 152419144 152419154 GCGTTTCGGAC - 265606 deletion NM_001271208.1(NEB):c.18862_18872delGTCCGAAACGC (p.Val6288Profs) 886042141 MedGen:C1850569,OMIM:256030 2 151562630 151562640 GCGTTTCGGAC - 265610 single nucleotide variant NM_001271208.1(NEB):c.20296G>T (p.Gly6766Cys) 886042143 MedGen:CN169374 2 152404014 152404014 C A 265610 single nucleotide variant NM_001271208.1(NEB):c.20296G>T (p.Gly6766Cys) 886042143 MedGen:CN169374 2 151547500 151547500 C A 265611 single nucleotide variant NM_001271208.1(NEB):c.21895G>C (p.Asp7299His) 780337761 MedGen:CN169374 2 152384045 152384045 C G 265611 single nucleotide variant NM_001271208.1(NEB):c.21895G>C (p.Asp7299His) 780337761 MedGen:CN169374 2 151527531 151527531 C G 265627 single nucleotide variant NM_001271208.1(NEB):c.1206C>T (p.Cys402=) 199695976 MedGen:CN169374 2 152554109 152554109 G A 265627 single nucleotide variant NM_001271208.1(NEB):c.1206C>T (p.Cys402=) 199695976 MedGen:CN169374 2 151697595 151697595 G A 265715 single nucleotide variant NM_004543.4(NEB):c.15551C>T (p.Ala5184Val) 202209668 MedGen:CN239479;MedGen:CN169374 2 152397989 152397989 G A 265715 single nucleotide variant NM_004543.4(NEB):c.15551C>T (p.Ala5184Val) 202209668 MedGen:CN239479;MedGen:CN169374 2 151541475 151541475 G A 265722 single nucleotide variant NM_001271208.1(NEB):c.1872G>T (p.Leu624Phe) 775430225 MedGen:CN169374 2 152550861 152550861 C A 265722 single nucleotide variant NM_001271208.1(NEB):c.1872G>T (p.Leu624Phe) 775430225 MedGen:CN169374 2 151694347 151694347 C A 265980 single nucleotide variant NM_001271208.1(NEB):c.10341G>A (p.Met3447Ile) 370053963 MedGen:CN169374 2 152483522 152483522 C T 265980 single nucleotide variant NM_001271208.1(NEB):c.10341G>A (p.Met3447Ile) 370053963 MedGen:CN169374 2 151627008 151627008 C T 266021 insertion NM_001271208.1(NEB):c.20467-5_20467-4insA 864309576 MedGen:CN169374 2 152402516 152402517 - T 266021 insertion NM_001271208.1(NEB):c.20467-5_20467-4insA 864309576 MedGen:CN169374 2 151546002 151546003 - T 266607 single nucleotide variant NM_001271208.1(NEB):c.21229G>A (p.Glu7077Lys) 886042384 MedGen:CN169374 2 152392288 152392288 C T 266607 single nucleotide variant NM_001271208.1(NEB):c.21229G>A (p.Glu7077Lys) 886042384 MedGen:CN169374 2 151535774 151535774 C T 266610 single nucleotide variant NM_001271208.1(NEB):c.6385C>T (p.Gln2129Ter) 80344795 MedGen:C1850569,OMIM:256030 2 152512777 152512777 G A 266610 single nucleotide variant NM_001271208.1(NEB):c.6385C>T (p.Gln2129Ter) 80344795 MedGen:C1850569,OMIM:256030 2 151656263 151656263 G A 267158 deletion NM_001271208.1(NEB):c.3592_3594delAAC (p.Asn1198del) 886042521 MedGen:CN169374 2 152534259 152534261 GTT - 267158 deletion NM_001271208.1(NEB):c.3592_3594delAAC (p.Asn1198del) 886042521 MedGen:CN169374 2 151677745 151677747 GTT - 267787 single nucleotide variant NM_001271208.1(NEB):c.6135T>C (p.Asp2045=) 886042654 MedGen:CN169374 2 152514545 152514545 A G 267787 single nucleotide variant NM_001271208.1(NEB):c.6135T>C (p.Asp2045=) 886042654 MedGen:CN169374 2 151658031 151658031 A G 268017 single nucleotide variant NM_001271208.1(NEB):c.11077-4G>T 878924060 MedGen:CN169374 2 152473986 152473986 C A 268017 single nucleotide variant NM_001271208.1(NEB):c.11077-4G>T 878924060 MedGen:CN169374 2 151617472 151617472 C A 268238 single nucleotide variant NM_001271208.1(NEB):c.7748T>C (p.Ile2583Thr) 886042764 MedGen:CN169374 2 152500540 152500540 A G 268238 single nucleotide variant NM_001271208.1(NEB):c.7748T>C (p.Ile2583Thr) 886042764 MedGen:CN169374 2 151644026 151644026 A G 268543 single nucleotide variant NM_001271208.1(NEB):c.2573C>T (p.Ala858Val) 372217127 MedGen:CN169374 2 152543997 152543997 G A 268543 single nucleotide variant NM_001271208.1(NEB):c.2573C>T (p.Ala858Val) 372217127 MedGen:CN169374 2 151687483 151687483 G A 268544 single nucleotide variant NM_004543.4(NEB):c.18952G>A (p.Ala6318Thr) 199937246 MedGen:CN239479;MedGen:CN169374 2 152350734 152350734 C T 268544 single nucleotide variant NM_004543.4(NEB):c.18952G>A (p.Ala6318Thr) 199937246 MedGen:CN239479;MedGen:CN169374 2 151494220 151494220 C T 269326 single nucleotide variant NM_001271208.1(NEB):c.17838G>A (p.Gln5946=) 376199241 MedGen:CN169374 2 152424591 152424591 C T 269326 single nucleotide variant NM_001271208.1(NEB):c.17838G>A (p.Gln5946=) 376199241 MedGen:CN169374 2 151568077 151568077 C T 269327 single nucleotide variant NM_001271208.1(NEB):c.17061C>G (p.Val5687=) 199756204 MedGen:CN169374 2 152427068 152427068 G C 269327 single nucleotide variant NM_001271208.1(NEB):c.17061C>G (p.Val5687=) 199756204 MedGen:CN169374 2 151570554 151570554 G C 269338 single nucleotide variant NM_001271208.1(NEB):c.403G>A (p.Val135Ile) 373729655 MedGen:CN169374 2 152581475 152581475 C T 269338 single nucleotide variant NM_001271208.1(NEB):c.403G>A (p.Val135Ile) 373729655 MedGen:CN169374 2 151724961 151724961 C T 269484 single nucleotide variant NM_001271208.1(NEB):c.25177C>T (p.Arg8393Cys) 757107530 MedGen:CN169374 2 152348275 152348275 G A 269484 single nucleotide variant NM_001271208.1(NEB):c.25177C>T (p.Arg8393Cys) 757107530 MedGen:CN169374 2 151491761 151491761 G A 269667 single nucleotide variant NM_001271208.1(NEB):c.5696C>T (p.Thr1899Ile) 202234374 MedGen:CN169374 2 152520129 152520129 G A 269667 single nucleotide variant NM_001271208.1(NEB):c.5696C>T (p.Thr1899Ile) 202234374 MedGen:CN169374 2 151663615 151663615 G A 269786 single nucleotide variant NM_001271208.1(NEB):c.7335G>C (p.Lys2445Asn) 886043134 MedGen:CN169374 2 152506786 152506786 C G 269786 single nucleotide variant NM_001271208.1(NEB):c.7335G>C (p.Lys2445Asn) 886043134 MedGen:CN169374 2 151650272 151650272 C G 269861 single nucleotide variant NM_001271208.1(NEB):c.994G>A (p.Glu332Lys) 748518353 MedGen:CN169374 2 152566211 152566211 C T 269861 single nucleotide variant NM_001271208.1(NEB):c.994G>A (p.Glu332Lys) 748518353 MedGen:CN169374 2 151709697 151709697 C T 270582 single nucleotide variant NM_001271208.1(NEB):c.8328C>T (p.Ala2776=) 373449008 MedGen:CN169374 2 152499133 152499133 G A 270582 single nucleotide variant NM_001271208.1(NEB):c.8328C>T (p.Ala2776=) 373449008 MedGen:CN169374 2 151642619 151642619 G A 270615 single nucleotide variant NM_001271208.1(NEB):c.19966C>T (p.Arg6656Cys) 527250558 MedGen:CN169374 2 152406233 152406233 G A 270615 single nucleotide variant NM_001271208.1(NEB):c.19966C>T (p.Arg6656Cys) 527250558 MedGen:CN169374 2 151549719 151549719 G A 271134 duplication NM_001271208.1(NEB):c.5971-6dupT 551520922 MedGen:CN169374 2 152515689 152515689 A AA 271134 duplication NM_001271208.1(NEB):c.5971-6dupT 551520922 MedGen:CN169374 2 151659175 151659175 A AA 271548 single nucleotide variant NM_001271208.1(NEB):c.25169G>T (p.Arg8390Leu) 778972474 MedGen:CN169374 2 152348283 152348283 C A 271548 single nucleotide variant NM_001271208.1(NEB):c.25169G>T (p.Arg8390Leu) 778972474 MedGen:CN169374 2 151491769 151491769 C A 271656 duplication NM_001271208.1(NEB):c.17541dupA (p.Tyr5848Ilefs) 886043631 MedGen:C1850569,OMIM:256030 2 152425225 152425225 T TT 271656 duplication NM_001271208.1(NEB):c.17541dupA (p.Tyr5848Ilefs) 886043631 MedGen:C1850569,OMIM:256030 2 151568711 151568711 T TT 271659 single nucleotide variant NM_001271208.1(NEB):c.294+2T>C 773952935 MedGen:C1850569,OMIM:256030;MedGen:CN221809 2 152584203 152584203 A G 271659 single nucleotide variant NM_001271208.1(NEB):c.294+2T>C 773952935 MedGen:C1850569,OMIM:256030;MedGen:CN221809 2 151727689 151727689 A G 271660 single nucleotide variant NM_001271208.1(NEB):c.6505A>G (p.Lys2169Glu) 752328965 MedGen:CN169374 2 151656014 151656014 T C 271660 single nucleotide variant NM_001271208.1(NEB):c.6505A>G (p.Lys2169Glu) 752328965 MedGen:CN169374 2 152512528 152512528 T C 271718 single nucleotide variant NM_001271208.1(NEB):c.328G>A (p.Gly110Arg) 886043647 MedGen:CN169374 2 152582041 152582041 C T 271718 single nucleotide variant NM_001271208.1(NEB):c.328G>A (p.Gly110Arg) 886043647 MedGen:CN169374 2 151725527 151725527 C T 271859 single nucleotide variant NM_004543.4(NEB):c.2510A>G (p.Lys837Arg) 189623595 MedGen:CN239479;MedGen:CN169374 2 152544153 152544153 T C 271859 single nucleotide variant NM_004543.4(NEB):c.2510A>G (p.Lys837Arg) 189623595 MedGen:CN239479;MedGen:CN169374 2 151687639 151687639 T C 272039 single nucleotide variant NM_001271208.1(NEB):c.19295A>G (p.Gln6432Arg) 189912759 MedGen:CN169374 2 152417125 152417125 T C 272039 single nucleotide variant NM_001271208.1(NEB):c.19295A>G (p.Gln6432Arg) 189912759 MedGen:CN169374 2 151560611 151560611 T C 272042 single nucleotide variant NM_001271208.1(NEB):c.16875C>T (p.Val5625=) 757882235 MedGen:CN169374 2 152432698 152432698 G A 272042 single nucleotide variant NM_001271208.1(NEB):c.16875C>T (p.Val5625=) 757882235 MedGen:CN169374 2 151576184 151576184 G A 272138 single nucleotide variant NM_001271208.1(NEB):c.1735G>T (p.Ala579Ser) 758068422 MedGen:CN169374 2 152551083 152551083 C A 272138 single nucleotide variant NM_001271208.1(NEB):c.1735G>T (p.Ala579Ser) 758068422 MedGen:CN169374 2 151694569 151694569 C A 272145 single nucleotide variant NM_001271208.1(NEB):c.19363C>T (p.Pro6455Ser) 377112785 MedGen:CN169374 2 152411510 152411510 G A 272145 single nucleotide variant NM_001271208.1(NEB):c.19363C>T (p.Pro6455Ser) 377112785 MedGen:CN169374 2 151554996 151554996 G A 272611 single nucleotide variant NM_001271208.1(NEB):c.22534G>A (p.Gly7512Ser) 764674361 MedGen:CN169374 2 152380875 152380875 C T 272611 single nucleotide variant NM_001271208.1(NEB):c.22534G>A (p.Gly7512Ser) 764674361 MedGen:CN169374 2 151524361 151524361 C T 272972 single nucleotide variant NM_001271208.1(NEB):c.21591C>T (p.His7197=) 146637177 MedGen:CN169374 2 152388342 152388342 G A 272972 single nucleotide variant NM_001271208.1(NEB):c.21591C>T (p.His7197=) 146637177 MedGen:CN169374 2 151531828 151531828 G A 273015 deletion NM_001271208.1(NEB):c.17557_17558delGA (p.Glu5853Asnfs) 886044005 MedGen:C1850569,OMIM:256030 2 152425208 152425209 TC - 273015 deletion NM_001271208.1(NEB):c.17557_17558delGA (p.Glu5853Asnfs) 886044005 MedGen:C1850569,OMIM:256030 2 151568694 151568695 TC - 273259 single nucleotide variant NM_001271208.1(NEB):c.7421A>G (p.Asn2474Ser) 776901478 MedGen:CN169374 2 152506700 152506700 T C 273259 single nucleotide variant NM_001271208.1(NEB):c.7421A>G (p.Asn2474Ser) 776901478 MedGen:CN169374 2 151650186 151650186 T C 273470 single nucleotide variant NM_001271208.1(NEB):c.2416-6G>T 185433570 MedGen:CN169374 2 152544253 152544253 C A 273470 single nucleotide variant NM_001271208.1(NEB):c.2416-6G>T 185433570 MedGen:CN169374 2 151687739 151687739 C A 273703 single nucleotide variant NM_001271208.1(NEB):c.11221G>A (p.Gly3741Ser) 375657086 MedGen:CN169374 2 152472584 152472584 C T 273703 single nucleotide variant NM_001271208.1(NEB):c.11221G>A (p.Gly3741Ser) 375657086 MedGen:CN169374 2 151616070 151616070 C T 274150 single nucleotide variant NM_001271208.1(NEB):c.3211A>C (p.Ile1071Leu) 35194393 MedGen:CN169374 2 152536279 152536279 T G 274150 single nucleotide variant NM_001271208.1(NEB):c.3211A>C (p.Ile1071Leu) 35194393 MedGen:CN169374 2 151679765 151679765 T G 275107 single nucleotide variant NM_001271208.1(NEB):c.4835G>A (p.Arg1612His) 534531948 MedGen:CN169374 2 152522800 152522800 C T 275107 single nucleotide variant NM_001271208.1(NEB):c.4835G>A (p.Arg1612His) 534531948 MedGen:CN169374 2 151666286 151666286 C T 275112 single nucleotide variant NM_001271208.1(NEB):c.10860C>A (p.Asp3620Glu) 748243107 MedGen:CN169374 2 152475977 152475977 G T 275112 single nucleotide variant NM_001271208.1(NEB):c.10860C>A (p.Asp3620Glu) 748243107 MedGen:CN169374 2 151619463 151619463 G T 275115 single nucleotide variant NM_001271208.1(NEB):c.1550A>G (p.Asn517Ser) 199710125 MedGen:CN169374 2 152553170 152553170 T C 275115 single nucleotide variant NM_001271208.1(NEB):c.1550A>G (p.Asn517Ser) 199710125 MedGen:CN169374 2 151696656 151696656 T C 275121 single nucleotide variant NM_001271208.1(NEB):c.4283A>G (p.Asn1428Ser) 565184120 MedGen:CN169374 2 152528899 152528899 T C 275121 single nucleotide variant NM_001271208.1(NEB):c.4283A>G (p.Asn1428Ser) 565184120 MedGen:CN169374 2 151672385 151672385 T C 275313 single nucleotide variant NM_001271208.1(NEB):c.6415C>G (p.His2139Asp) 886044641 MedGen:CN169374 2 152512747 152512747 G C 275313 single nucleotide variant NM_001271208.1(NEB):c.6415C>G (p.His2139Asp) 886044641 MedGen:CN169374 2 151656233 151656233 G C 282085 single nucleotide variant NM_004543.4(NEB):c.*36C>T 773628949 MedGen:CN239479 2 151485724 151485724 G A 282085 single nucleotide variant NM_004543.4(NEB):c.*36C>T 773628949 MedGen:CN239479 2 152342238 152342238 G A 282086 single nucleotide variant NM_004543.4(NEB):c.19690T>C (p.Ser6564Pro) 886054925 MedGen:CN239479 2 151490411 151490411 A G 282086 single nucleotide variant NM_004543.4(NEB):c.19690T>C (p.Ser6564Pro) 886054925 MedGen:CN239479 2 152346925 152346925 A G 282091 single nucleotide variant NM_004543.4(NEB):c.19189A>G (p.Ile6397Val) 551649582 MedGen:CN239479 2 152349875 152349875 T C 282091 single nucleotide variant NM_004543.4(NEB):c.19189A>G (p.Ile6397Val) 551649582 MedGen:CN239479 2 151493361 151493361 T C 282092 single nucleotide variant NM_004543.4(NEB):c.18802C>T (p.Arg6268Cys) 201419564 MedGen:CN239479 2 151502816 151502816 G A 282092 single nucleotide variant NM_004543.4(NEB):c.18802C>T (p.Arg6268Cys) 201419564 MedGen:CN239479 2 152359330 152359330 G A 282096 single nucleotide variant NM_004543.4(NEB):c.18046G>C (p.Glu6016Gln) 766321668 MedGen:CN239479 2 151513672 151513672 C G 282096 single nucleotide variant NM_004543.4(NEB):c.18046G>C (p.Glu6016Gln) 766321668 MedGen:CN239479 2 152370186 152370186 C G 282097 single nucleotide variant NM_004543.4(NEB):c.18024+4G>A 764457781 MedGen:CN239479 2 151514314 151514314 C T 282097 single nucleotide variant NM_004543.4(NEB):c.18024+4G>A 764457781 MedGen:CN239479 2 152370828 152370828 C T 282099 single nucleotide variant NM_004543.4(NEB):c.17336A>C (p.Asp5779Ala) 886054928 MedGen:CN239479 2 151524351 151524351 T G 282099 single nucleotide variant NM_004543.4(NEB):c.17336A>C (p.Asp5779Ala) 886054928 MedGen:CN239479 2 152380865 152380865 T G 282101 single nucleotide variant NM_004543.4(NEB):c.17170-5T>C 886054929 MedGen:CN239479 2 151524621 151524621 A G 282101 single nucleotide variant NM_004543.4(NEB):c.17170-5T>C 886054929 MedGen:CN239479 2 152381135 152381135 A G 282107 single nucleotide variant NM_004543.4(NEB):c.17084A>G (p.Lys5695Arg) 201548700 MedGen:CN239479 2 151525248 151525248 T C 282107 single nucleotide variant NM_004543.4(NEB):c.17084A>G (p.Lys5695Arg) 201548700 MedGen:CN239479 2 152381762 152381762 T C 282109 single nucleotide variant NM_004543.4(NEB):c.15803A>T (p.Glu5268Val) 371680259 MedGen:CN239479 2 151538231 151538231 T A 282109 single nucleotide variant NM_004543.4(NEB):c.15803A>T (p.Glu5268Val) 371680259 MedGen:CN239479 2 152394745 152394745 T A 282113 single nucleotide variant NM_004543.4(NEB):c.15475-6G>A 376710012 MedGen:CN239479 2 151541557 151541557 C T 282113 single nucleotide variant NM_004543.4(NEB):c.15475-6G>A 376710012 MedGen:CN239479 2 152398071 152398071 C T 282115 single nucleotide variant NM_004543.4(NEB):c.15109G>A (p.Asp5037Asn) 201337732 MedGen:CN239479 2 151547684 151547684 C T 282115 single nucleotide variant NM_004543.4(NEB):c.15109G>A (p.Asp5037Asn) 201337732 MedGen:CN239479 2 152404198 152404198 C T 282122 single nucleotide variant NM_004543.4(NEB):c.14929C>T (p.Arg4977Cys) 200239095 MedGen:CN239479 2 151549653 151549653 G A 282122 single nucleotide variant NM_004543.4(NEB):c.14929C>T (p.Arg4977Cys) 200239095 MedGen:CN239479 2 152406167 152406167 G A 282124 single nucleotide variant NM_004543.4(NEB):c.14816T>G (p.Leu4939Arg) 886054932 MedGen:CN239479 2 151551763 151551763 A C 282124 single nucleotide variant NM_004543.4(NEB):c.14816T>G (p.Leu4939Arg) 886054932 MedGen:CN239479 2 152408277 152408277 A C 282129 single nucleotide variant NM_004543.4(NEB):c.14791A>G (p.Lys4931Glu) 765189771 MedGen:CN239479 2 151551788 151551788 T C 282129 single nucleotide variant NM_004543.4(NEB):c.14791A>G (p.Lys4931Glu) 765189771 MedGen:CN239479 2 152408302 152408302 T C 282131 single nucleotide variant NM_004543.4(NEB):c.14648T>G (p.Met4883Arg) 190605644 MedGen:CN239479 2 151552757 151552757 A C 282131 single nucleotide variant NM_004543.4(NEB):c.14648T>G (p.Met4883Arg) 190605644 MedGen:CN239479 2 152409271 152409271 A C 282138 single nucleotide variant NM_004543.4(NEB):c.14596C>A (p.His4866Asn) 886054933 MedGen:CN239479 2 151553430 151553430 G T 282138 single nucleotide variant NM_004543.4(NEB):c.14596C>A (p.His4866Asn) 886054933 MedGen:CN239479 2 152409944 152409944 G T 282142 single nucleotide variant NM_004543.4(NEB):c.14490T>C (p.Asp4830=) 886054935 MedGen:CN239479 2 151553861 151553861 A G 282142 single nucleotide variant NM_004543.4(NEB):c.14490T>C (p.Asp4830=) 886054935 MedGen:CN239479 2 152410375 152410375 A G 282143 single nucleotide variant NM_004543.4(NEB):c.14034C>T (p.Asp4678=) 778962225 MedGen:CN239479 2 152417587 152417587 G A 282143 single nucleotide variant NM_004543.4(NEB):c.14034C>T (p.Asp4678=) 778962225 MedGen:CN239479 2 151561073 151561073 G A 282144 single nucleotide variant NM_004543.4(NEB):c.13476+11C>T 567282220 MedGen:CN239479 2 151563812 151563812 G A 282144 single nucleotide variant NM_004543.4(NEB):c.13476+11C>T 567282220 MedGen:CN239479 2 152420326 152420326 G A 282149 single nucleotide variant NM_004543.4(NEB):c.13385C>T (p.Ala4462Val) 201529683 MedGen:CN239479 2 151563914 151563914 G A 282149 single nucleotide variant NM_004543.4(NEB):c.13385C>T (p.Ala4462Val) 201529683 MedGen:CN239479 2 152420428 152420428 G A 282151 single nucleotide variant NM_004543.4(NEB):c.13328A>G (p.His4443Arg) 34504204 MedGen:CN239479 2 152421598 152421598 T C 282151 single nucleotide variant NM_004543.4(NEB):c.13328A>G (p.His4443Arg) 34504204 MedGen:CN239479 2 151565084 151565084 T C 282153 single nucleotide variant NM_004543.4(NEB):c.12961A>G (p.Ile4321Val) 574746662 MedGen:CN239479 2 151567260 151567260 T C 282153 single nucleotide variant NM_004543.4(NEB):c.12961A>G (p.Ile4321Val) 574746662 MedGen:CN239479 2 152423774 152423774 T C 282155 single nucleotide variant NM_004543.4(NEB):c.12794C>T (p.Pro4265Leu) 368912483 MedGen:CN239479 2 151567427 151567427 G A 282155 single nucleotide variant NM_004543.4(NEB):c.12794C>T (p.Pro4265Leu) 368912483 MedGen:CN239479 2 152423941 152423941 G A 282160 single nucleotide variant NM_004543.4(NEB):c.10347+12A>G 201250579 MedGen:CN239479 2 151618263 151618263 T C 282160 single nucleotide variant NM_004543.4(NEB):c.10347+12A>G 201250579 MedGen:CN239479 2 152474777 152474777 T C 282162 single nucleotide variant NM_004543.4(NEB):c.10296G>A (p.Thr3432=) 199789085 MedGen:CN239479 2 151618326 151618326 C T 282162 single nucleotide variant NM_004543.4(NEB):c.10296G>A (p.Thr3432=) 199789085 MedGen:CN239479 2 152474840 152474840 C T 282165 single nucleotide variant NM_004543.4(NEB):c.8796C>A (p.Ile2932=) 886054943 MedGen:CN239479 2 151639950 151639950 G T 282165 single nucleotide variant NM_004543.4(NEB):c.8796C>A (p.Ile2932=) 886054943 MedGen:CN239479 2 152496464 152496464 G T 282166 single nucleotide variant NM_004543.4(NEB):c.7645-14T>C 886054945 MedGen:CN239479 2 151644143 151644143 A G 282166 single nucleotide variant NM_004543.4(NEB):c.7645-14T>C 886054945 MedGen:CN239479 2 152500657 152500657 A G 282170 single nucleotide variant NM_004543.4(NEB):c.5623A>G (p.Met1875Val) 201940342 MedGen:CN239479 2 151663688 151663688 T C 282170 single nucleotide variant NM_004543.4(NEB):c.5623A>G (p.Met1875Val) 201940342 MedGen:CN239479 2 152520202 152520202 T C 282172 single nucleotide variant NM_004543.4(NEB):c.3986A>C (p.Asp1329Ala) 115986826 MedGen:CN239479 2 151674478 151674478 T G 282172 single nucleotide variant NM_004543.4(NEB):c.3986A>C (p.Asp1329Ala) 115986826 MedGen:CN239479 2 152530992 152530992 T G 282173 single nucleotide variant NM_004543.4(NEB):c.3444G>A (p.Ala1148=) 375569766 MedGen:CN239479 2 151677999 151677999 C T 282173 single nucleotide variant NM_004543.4(NEB):c.3444G>A (p.Ala1148=) 375569766 MedGen:CN239479 2 152534513 152534513 C T 282175 single nucleotide variant NM_004543.4(NEB):c.3443C>T (p.Ala1148Val) 200637566 MedGen:CN239479 2 151678000 151678000 G A 282175 single nucleotide variant NM_004543.4(NEB):c.3443C>T (p.Ala1148Val) 200637566 MedGen:CN239479 2 152534514 152534514 G A 282180 single nucleotide variant NM_004543.4(NEB):c.3416C>T (p.Thr1139Met) 181244403 MedGen:CN239479 2 151678027 151678027 G A 282180 single nucleotide variant NM_004543.4(NEB):c.3416C>T (p.Thr1139Met) 181244403 MedGen:CN239479 2 152534541 152534541 G A 282183 single nucleotide variant NM_004543.4(NEB):c.2155C>T (p.Pro719Ser) 376503299 MedGen:CN239479 2 151691920 151691920 G A 282183 single nucleotide variant NM_004543.4(NEB):c.2155C>T (p.Pro719Ser) 376503299 MedGen:CN239479 2 152548434 152548434 G A 282185 single nucleotide variant NM_004543.4(NEB):c.1899A>T (p.Arg633Ser) 77826191 MedGen:CN239479 2 151692360 151692360 T A 282185 single nucleotide variant NM_004543.4(NEB):c.1899A>T (p.Arg633Ser) 77826191 MedGen:CN239479 2 152548874 152548874 T A 282194 single nucleotide variant NM_004543.4(NEB):c.475C>T (p.His159Tyr) 776746330 MedGen:CN239479 2 152581403 152581403 G A 282194 single nucleotide variant NM_004543.4(NEB):c.475C>T (p.His159Tyr) 776746330 MedGen:CN239479 2 151724889 151724889 G A 282196 single nucleotide variant NM_004543.4(NEB):c.47A>T (p.Glu16Val) 748679499 MedGen:CN239479 2 151729646 151729646 T A 282196 single nucleotide variant NM_004543.4(NEB):c.47A>T (p.Glu16Val) 748679499 MedGen:CN239479 2 152586160 152586160 T A 282200 single nucleotide variant NM_004543.4(NEB):c.-167G>T 886054948 MedGen:CN239479 2 151734451 151734451 C A 282200 single nucleotide variant NM_004543.4(NEB):c.-167G>T 886054948 MedGen:CN239479 2 152590965 152590965 C A 282750 single nucleotide variant NM_004543.4(NEB):c.19351C>A (p.Pro6451Thr) 886054927 MedGen:CN239479 2 152348750 152348750 G T 282750 single nucleotide variant NM_004543.4(NEB):c.19351C>A (p.Pro6451Thr) 886054927 MedGen:CN239479 2 151492236 151492236 G T 282764 single nucleotide variant NM_004543.4(NEB):c.17867C>T (p.Thr5956Met) 770889470 MedGen:CN239479 2 151514864 151514864 G A 282764 single nucleotide variant NM_004543.4(NEB):c.17867C>T (p.Thr5956Met) 770889470 MedGen:CN239479 2 152371378 152371378 G A 282766 single nucleotide variant NM_004543.4(NEB):c.17399A>G (p.Asp5800Gly) 771620082 MedGen:CN239479 2 151519746 151519746 T C 282766 single nucleotide variant NM_004543.4(NEB):c.17399A>G (p.Asp5800Gly) 771620082 MedGen:CN239479 2 152376260 152376260 T C 282768 single nucleotide variant NM_004543.4(NEB):c.17169+7T>C 762551492 MedGen:CN239479 2 151525156 151525156 A G 282768 single nucleotide variant NM_004543.4(NEB):c.17169+7T>C 762551492 MedGen:CN239479 2 152381670 152381670 A G 282772 single nucleotide variant NM_004543.4(NEB):c.16947+13C>T 113403461 MedGen:CN239479 2 151526145 151526145 G A 282772 single nucleotide variant NM_004543.4(NEB):c.16947+13C>T 113403461 MedGen:CN239479 2 152382659 152382659 G A 282773 single nucleotide variant NM_004543.4(NEB):c.16758G>A (p.Arg5586=) 372808358 MedGen:CN239479 2 151527002 151527002 C T 282773 single nucleotide variant NM_004543.4(NEB):c.16758G>A (p.Arg5586=) 372808358 MedGen:CN239479 2 152383516 152383516 C T 282775 single nucleotide variant NM_004543.4(NEB):c.15608A>G (p.Glu5203Gly) 886054930 MedGen:CN239479 2 151540773 151540773 T C 282775 single nucleotide variant NM_004543.4(NEB):c.15608A>G (p.Glu5203Gly) 886054930 MedGen:CN239479 2 152397287 152397287 T C 282776 duplication NM_004543.4(NEB):c.15364-6_15364-4dupTTT 762865768 MedGen:CN239479 2 151546002 151546004 AAA AAAAAA 282776 duplication NM_004543.4(NEB):c.15364-6_15364-4dupTTT 762865768 MedGen:CN239479 2 152402516 152402518 AAA AAAAAA 282777 duplication NM_004543.4(NEB):c.15364-4dupT 762865768 MedGen:CN239479 2 151546002 151546002 A AA 282777 duplication NM_004543.4(NEB):c.15364-4dupT 762865768 MedGen:CN239479 2 152402516 152402516 A AA 282788 single nucleotide variant NM_004543.4(NEB):c.15264+15G>C 886054931 MedGen:CN239479 2 151547414 151547414 C G 282788 single nucleotide variant NM_004543.4(NEB):c.15264+15G>C 886054931 MedGen:CN239479 2 152403928 152403928 C G 282789 single nucleotide variant NM_004543.4(NEB):c.14762G>A (p.Ser4921Asn) 144168709 MedGen:CN239479 2 151551817 151551817 C T 282789 single nucleotide variant NM_004543.4(NEB):c.14762G>A (p.Ser4921Asn) 144168709 MedGen:CN239479 2 152408331 152408331 C T 282791 single nucleotide variant NM_004543.4(NEB):c.14294G>A (p.Arg4765Gln) 747425038 MedGen:CN239479 2 152411476 152411476 C T 282791 single nucleotide variant NM_004543.4(NEB):c.14294G>A (p.Arg4765Gln) 747425038 MedGen:CN239479 2 151554962 151554962 C T 282792 single nucleotide variant NM_004543.4(NEB):c.13697T>C (p.Leu4566Pro) 184723737 MedGen:CN239479 2 152419216 152419216 A G 282792 single nucleotide variant NM_004543.4(NEB):c.13697T>C (p.Leu4566Pro) 184723737 MedGen:CN239479 2 151562702 151562702 A G 282793 single nucleotide variant NM_004543.4(NEB):c.12090G>A (p.Lys4030=) 886054939 MedGen:CN239479 2 151570318 151570318 C T 282793 single nucleotide variant NM_004543.4(NEB):c.12090G>A (p.Lys4030=) 886054939 MedGen:CN239479 2 152426832 152426832 C T 282795 single nucleotide variant NM_004543.4(NEB):c.12080A>T (p.Asp4027Val) 756098317 MedGen:CN239479 2 151570328 151570328 T A 282795 single nucleotide variant NM_004543.4(NEB):c.12080A>T (p.Asp4027Val) 756098317 MedGen:CN239479 2 152426842 152426842 T A 282797 single nucleotide variant NM_004543.4(NEB):c.11122G>A (p.Val3708Met) 759624618 MedGen:CN239479 2 152467335 152467335 C T 282797 single nucleotide variant NM_004543.4(NEB):c.11122G>A (p.Val3708Met) 759624618 MedGen:CN239479 2 151610821 151610821 C T 282806 single nucleotide variant NM_004543.4(NEB):c.10632G>A (p.Pro3544=) 200043736 MedGen:CN239479 2 151614516 151614516 C T 282806 single nucleotide variant NM_004543.4(NEB):c.10632G>A (p.Pro3544=) 200043736 MedGen:CN239479 2 152471030 152471030 C T 282809 single nucleotide variant NM_004543.4(NEB):c.9854G>A (p.Arg3285His) 199584268 MedGen:CN239479 2 151619740 151619740 C T 282809 single nucleotide variant NM_004543.4(NEB):c.9854G>A (p.Arg3285His) 199584268 MedGen:CN239479 2 152476254 152476254 C T 282812 single nucleotide variant NM_004543.4(NEB):c.9412G>A (p.Asp3138Asn) 374760449 MedGen:CN239479 2 151627525 151627525 C T 282812 single nucleotide variant NM_004543.4(NEB):c.9412G>A (p.Asp3138Asn) 374760449 MedGen:CN239479 2 152484039 152484039 C T 282813 single nucleotide variant NM_004543.4(NEB):c.8682C>A (p.Ser2894Arg) 373799650 MedGen:CN239479 2 151640358 151640358 G T 282813 single nucleotide variant NM_004543.4(NEB):c.8682C>A (p.Ser2894Arg) 373799650 MedGen:CN239479 2 152496872 152496872 G T 282814 single nucleotide variant NM_004543.4(NEB):c.8490G>A (p.Arg2830=) 368217121 MedGen:CN239479 2 151640550 151640550 C T 282814 single nucleotide variant NM_004543.4(NEB):c.8490G>A (p.Arg2830=) 368217121 MedGen:CN239479 2 152497064 152497064 C T 282815 single nucleotide variant NM_004543.4(NEB):c.8335A>T (p.Ile2779Phe) 114853127 MedGen:CN239479 2 151642612 151642612 T A 282815 single nucleotide variant NM_004543.4(NEB):c.8335A>T (p.Ile2779Phe) 114853127 MedGen:CN239479 2 152499126 152499126 T A 282817 single nucleotide variant NM_004543.4(NEB):c.7537-3C>A 886054946 MedGen:CN239479 2 151644578 151644578 G T 282817 single nucleotide variant NM_004543.4(NEB):c.7537-3C>A 886054946 MedGen:CN239479 2 152501092 152501092 G T 282819 single nucleotide variant NM_004543.4(NEB):c.7342C>T (p.Arg2448Cys) 576076237 MedGen:CN239479 2 151650265 151650265 G A 282819 single nucleotide variant NM_004543.4(NEB):c.7342C>T (p.Arg2448Cys) 576076237 MedGen:CN239479 2 152506779 152506779 G A 282822 single nucleotide variant NM_004543.4(NEB):c.7228-5C>T 773213959 MedGen:CN239479 2 151650384 151650384 G A 282822 single nucleotide variant NM_004543.4(NEB):c.7228-5C>T 773213959 MedGen:CN239479 2 152506898 152506898 G A 282832 single nucleotide variant NM_004543.4(NEB):c.6817A>G (p.Lys2273Glu) 199700878 MedGen:CN239479 2 151654090 151654090 T C 282832 single nucleotide variant NM_004543.4(NEB):c.6817A>G (p.Lys2273Glu) 199700878 MedGen:CN239479 2 152510604 152510604 T C 282837 single nucleotide variant NM_004543.4(NEB):c.6513T>C (p.Asp2171=) 376535906 MedGen:CN239479 2 151656006 151656006 A G 282837 single nucleotide variant NM_004543.4(NEB):c.6513T>C (p.Asp2171=) 376535906 MedGen:CN239479 2 152512520 152512520 A G 282839 single nucleotide variant NM_004543.4(NEB):c.5854A>G (p.Met1952Val) 200649387 MedGen:CN239479 2 151662251 151662251 T C 282839 single nucleotide variant NM_004543.4(NEB):c.5854A>G (p.Met1952Val) 200649387 MedGen:CN239479 2 152518765 152518765 T C 282842 single nucleotide variant NM_004543.4(NEB):c.5849A>G (p.Lys1950Arg) 758655350 MedGen:CN239479 2 151662256 151662256 T C 282842 single nucleotide variant NM_004543.4(NEB):c.5849A>G (p.Lys1950Arg) 758655350 MedGen:CN239479 2 152518770 152518770 T C 282845 single nucleotide variant NM_004543.4(NEB):c.5224C>T (p.Leu1742=) 886054947 MedGen:CN239479 2 151665347 151665347 G A 282845 single nucleotide variant NM_004543.4(NEB):c.5224C>T (p.Leu1742=) 886054947 MedGen:CN239479 2 152521861 152521861 G A 282847 single nucleotide variant NM_004543.4(NEB):c.5181C>T (p.Tyr1727=) 35016946 MedGen:CN239479 2 151665390 151665390 G A 282847 single nucleotide variant NM_004543.4(NEB):c.5181C>T (p.Tyr1727=) 35016946 MedGen:CN239479 2 152521904 152521904 G A 282848 single nucleotide variant NM_004543.4(NEB):c.4980C>T (p.Pro1660=) 142074817 MedGen:CN239479 2 151666141 151666141 G A 282848 single nucleotide variant NM_004543.4(NEB):c.4980C>T (p.Pro1660=) 142074817 MedGen:CN239479 2 152522655 152522655 G A 282849 single nucleotide variant NM_004543.4(NEB):c.2957A>G (p.Gln986Arg) 781465553 MedGen:CN239479 2 151680815 151680815 T C 282849 single nucleotide variant NM_004543.4(NEB):c.2957A>G (p.Gln986Arg) 781465553 MedGen:CN239479 2 152537329 152537329 T C 282850 single nucleotide variant NM_004543.4(NEB):c.2823G>A (p.Ala941=) 376849181 MedGen:CN239479 2 151684790 151684790 C T 282850 single nucleotide variant NM_004543.4(NEB):c.2823G>A (p.Ala941=) 376849181 MedGen:CN239479 2 152541304 152541304 C T 282852 single nucleotide variant NM_004543.4(NEB):c.1953G>A (p.Glu651=) 367997645 MedGen:CN239479 2 151692306 151692306 C T 282852 single nucleotide variant NM_004543.4(NEB):c.1953G>A (p.Glu651=) 367997645 MedGen:CN239479 2 152548820 152548820 C T 282853 single nucleotide variant NM_004543.4(NEB):c.1257+13A>T 75320668 MedGen:CN239479 2 151697531 151697531 T A 282853 single nucleotide variant NM_004543.4(NEB):c.1257+13A>T 75320668 MedGen:CN239479 2 152554045 152554045 T A 282854 single nucleotide variant NM_004543.4(NEB):c.1119G>A (p.Arg373=) 200914626 MedGen:CN239479 2 152563428 152563428 C T 282854 single nucleotide variant NM_004543.4(NEB):c.1119G>A (p.Arg373=) 200914626 MedGen:CN239479 2 151706914 151706914 C T 282856 single nucleotide variant NM_004543.4(NEB):c.984C>T (p.Thr328=) 199969138 MedGen:CN239479 2 152566221 152566221 G A 282856 single nucleotide variant NM_004543.4(NEB):c.984C>T (p.Thr328=) 199969138 MedGen:CN239479 2 151709707 151709707 G A 282857 single nucleotide variant NM_004543.4(NEB):c.585C>G (p.Ala195=) 374538366 MedGen:CN239479 2 152580801 152580801 G C 282857 single nucleotide variant NM_004543.4(NEB):c.585C>G (p.Ala195=) 374538366 MedGen:CN239479 2 151724287 151724287 G C 282858 single nucleotide variant NM_004543.4(NEB):c.13G>A (p.Glu5Lys) 374390581 MedGen:CN239479 2 151733144 151733144 C T 282858 single nucleotide variant NM_004543.4(NEB):c.13G>A (p.Glu5Lys) 374390581 MedGen:CN239479 2 152589658 152589658 C T 284340 single nucleotide variant NM_004543.4(NEB):c.*57C>T 566096042 MedGen:CN239479 2 151485703 151485703 G A 284340 single nucleotide variant NM_004543.4(NEB):c.*57C>T 566096042 MedGen:CN239479 2 152342217 152342217 G A 284344 single nucleotide variant NM_004543.4(NEB):c.19996G>A (p.Val6666Ile) 117861109 MedGen:CN239479 2 151485774 151485774 C T 284344 single nucleotide variant NM_004543.4(NEB):c.19996G>A (p.Val6666Ile) 117861109 MedGen:CN239479 2 152342288 152342288 C T 284363 single nucleotide variant NM_004543.4(NEB):c.19539A>G (p.Pro6513=) 763433145 MedGen:CN239479 2 152348240 152348240 T C 284363 single nucleotide variant NM_004543.4(NEB):c.19539A>G (p.Pro6513=) 763433145 MedGen:CN239479 2 151491726 151491726 T C 284365 single nucleotide variant NM_004543.4(NEB):c.19072A>G (p.Arg6358Gly) 772803200 MedGen:CN239479 2 152350321 152350321 T C 284365 single nucleotide variant NM_004543.4(NEB):c.19072A>G (p.Arg6358Gly) 772803200 MedGen:CN239479 2 151493807 151493807 T C 284371 single nucleotide variant NM_004543.4(NEB):c.18024+2T>C 112610938 MedGen:CN239479 2 151514316 151514316 A G 284371 single nucleotide variant NM_004543.4(NEB):c.18024+2T>C 112610938 MedGen:CN239479 2 152370830 152370830 A G 284381 single nucleotide variant NM_004543.4(NEB):c.17574A>T (p.Thr5858=) 778662915 MedGen:CN239479 2 151518983 151518983 T A 284381 single nucleotide variant NM_004543.4(NEB):c.17574A>T (p.Thr5858=) 778662915 MedGen:CN239479 2 152375497 152375497 T A 284387 single nucleotide variant NM_004543.4(NEB):c.16238G>A (p.Arg5413Gln) 372284984 MedGen:CN239479 2 151534291 151534291 C T 284387 single nucleotide variant NM_004543.4(NEB):c.16238G>A (p.Arg5413Gln) 372284984 MedGen:CN239479 2 152390805 152390805 C T 284391 duplication NM_004543.4(NEB):c.15364-5_15364-4dupTT 762865768 MedGen:CN239479;MedGen:CN169374 2 151546002 151546003 AA AAAA 284391 duplication NM_004543.4(NEB):c.15364-5_15364-4dupTT 762865768 MedGen:CN239479;MedGen:CN169374 2 152402516 152402517 AA AAAA 284393 single nucleotide variant NM_004543.4(NEB):c.15125G>A (p.Arg5042His) 755370356 MedGen:CN239479 2 151547668 151547668 C T 284393 single nucleotide variant NM_004543.4(NEB):c.15125G>A (p.Arg5042His) 755370356 MedGen:CN239479 2 152404182 152404182 C T 284394 single nucleotide variant NM_004543.4(NEB):c.14619A>G (p.Leu4873=) 141526973 MedGen:CN239479 2 151553407 151553407 T C 284394 single nucleotide variant NM_004543.4(NEB):c.14619A>G (p.Leu4873=) 141526973 MedGen:CN239479 2 152409921 152409921 T C 284395 single nucleotide variant NM_004543.4(NEB):c.14583T>G (p.Thr4861=) 886054934 MedGen:CN239479 2 151553443 151553443 A C 284395 single nucleotide variant NM_004543.4(NEB):c.14583T>G (p.Thr4861=) 886054934 MedGen:CN239479 2 152409957 152409957 A C 284405 duplication NM_004543.4(NEB):c.12532-3dupT 3214503 MedGen:CN239479 2 151568420 151568420 A AA 284405 duplication NM_004543.4(NEB):c.12532-3dupT 3214503 MedGen:CN239479 2 152424934 152424934 A AA 284406 single nucleotide variant NM_004543.4(NEB):c.10436G>A (p.Arg3479Gln) 757027644 MedGen:CN239479 2 151617380 151617380 C T 284406 single nucleotide variant NM_004543.4(NEB):c.10436G>A (p.Arg3479Gln) 757027644 MedGen:CN239479 2 152473894 152473894 C T 284410 single nucleotide variant NM_004543.4(NEB):c.6369G>A (p.Thr2123=) 540542570 MedGen:CN239479 2 151656279 151656279 C T 284410 single nucleotide variant NM_004543.4(NEB):c.6369G>A (p.Thr2123=) 540542570 MedGen:CN239479 2 152512793 152512793 C T 284411 single nucleotide variant NM_004543.4(NEB):c.5656G>A (p.Glu1886Lys) 746761562 MedGen:CN239479 2 151663655 151663655 C T 284411 single nucleotide variant NM_004543.4(NEB):c.5656G>A (p.Glu1886Lys) 746761562 MedGen:CN239479 2 152520169 152520169 C T 284422 single nucleotide variant NM_004543.4(NEB):c.5411C>A (p.Ala1804Glu) 78420579 MedGen:CN239479 2 151664541 151664541 G T 284422 single nucleotide variant NM_004543.4(NEB):c.5411C>A (p.Ala1804Glu) 78420579 MedGen:CN239479 2 152521055 152521055 G T 284423 single nucleotide variant NM_004543.4(NEB):c.3826C>A (p.Pro1276Thr) 34234609 MedGen:CN239479 2 151675340 151675340 G T 284423 single nucleotide variant NM_004543.4(NEB):c.3826C>A (p.Pro1276Thr) 34234609 MedGen:CN239479 2 152531854 152531854 G T 284425 single nucleotide variant NM_004543.4(NEB):c.3399A>G (p.Thr1133=) 543961404 MedGen:CN239479 2 151678044 151678044 T C 284425 single nucleotide variant NM_004543.4(NEB):c.3399A>G (p.Thr1133=) 543961404 MedGen:CN239479 2 152534558 152534558 T C 284427 single nucleotide variant NM_004543.4(NEB):c.3094C>T (p.Pro1032Ser) 544334101 MedGen:CN239479 2 151679971 151679971 G A 284427 single nucleotide variant NM_004543.4(NEB):c.3094C>T (p.Pro1032Ser) 544334101 MedGen:CN239479 2 152536485 152536485 G A 284433 single nucleotide variant NM_004543.4(NEB):c.2739C>T (p.Ser913=) 185674525 MedGen:CN239479 2 151684874 151684874 G A 284433 single nucleotide variant NM_004543.4(NEB):c.2739C>T (p.Ser913=) 185674525 MedGen:CN239479 2 152541388 152541388 G A 284441 single nucleotide variant NM_004543.4(NEB):c.2250G>A (p.Thr750=) 753965951 MedGen:CN239479 2 151690787 151690787 C T 284441 single nucleotide variant NM_004543.4(NEB):c.2250G>A (p.Thr750=) 753965951 MedGen:CN239479 2 152547301 152547301 C T 284443 single nucleotide variant NM_004543.4(NEB):c.1981C>T (p.Leu661=) 146460133 MedGen:CN239479 2 151692278 151692278 G A 284443 single nucleotide variant NM_004543.4(NEB):c.1981C>T (p.Leu661=) 146460133 MedGen:CN239479 2 152548792 152548792 G A 284449 single nucleotide variant NM_004543.4(NEB):c.1365+14C>A 750849844 MedGen:CN239479 2 151697336 151697336 G T 284449 single nucleotide variant NM_004543.4(NEB):c.1365+14C>A 750849844 MedGen:CN239479 2 152553850 152553850 G T 284469 single nucleotide variant NM_004543.4(NEB):c.1227C>G (p.Leu409=) 371658494 MedGen:CN239479 2 152554088 152554088 G C 284469 single nucleotide variant NM_004543.4(NEB):c.1227C>G (p.Leu409=) 371658494 MedGen:CN239479 2 151697574 151697574 G C 284470 single nucleotide variant NM_004543.4(NEB):c.780A>G (p.Pro260=) 80255720 MedGen:CN239479 2 152573972 152573972 T C 284470 single nucleotide variant NM_004543.4(NEB):c.780A>G (p.Pro260=) 80255720 MedGen:CN239479 2 151717458 151717458 T C 284472 single nucleotide variant NM_004543.4(NEB):c.-114+3A>G 772077208 MedGen:CN239479 2 152590909 152590909 T C 284472 single nucleotide variant NM_004543.4(NEB):c.-114+3A>G 772077208 MedGen:CN239479 2 151734395 151734395 T C 284584 deletion NM_004543.4(NEB):c.*264_*265delAG 59509952 MedGen:CN239479 2 151485495 151485496 CT - 284584 deletion NM_004543.4(NEB):c.*264_*265delAG 59509952 MedGen:CN239479 2 152342009 152342010 CT - 284586 single nucleotide variant NM_004543.4(NEB):c.19846C>T (p.Arg6616Cys) 542706227 MedGen:CN239479 2 151485924 151485924 G A 284586 single nucleotide variant NM_004543.4(NEB):c.19846C>T (p.Arg6616Cys) 542706227 MedGen:CN239479 2 152342438 152342438 G A 284591 single nucleotide variant NM_004543.4(NEB):c.19597C>T (p.Arg6533Trp) 373551215 MedGen:CN239479 2 152347018 152347018 G A 284591 single nucleotide variant NM_004543.4(NEB):c.19597C>T (p.Arg6533Trp) 373551215 MedGen:CN239479 2 151490504 151490504 G A 284592 single nucleotide variant NM_004543.4(NEB):c.19460G>A (p.Arg6487Gln) 886054926 MedGen:CN239479 2 152348641 152348641 C T 284592 single nucleotide variant NM_004543.4(NEB):c.19460G>A (p.Arg6487Gln) 886054926 MedGen:CN239479 2 151492127 151492127 C T 284593 single nucleotide variant NM_004543.4(NEB):c.18881T>C (p.Met6294Thr) 774559645 MedGen:CN239479 2 151496313 151496313 A G 284593 single nucleotide variant NM_004543.4(NEB):c.18881T>C (p.Met6294Thr) 774559645 MedGen:CN239479 2 152352827 152352827 A G 284595 single nucleotide variant NM_004543.4(NEB):c.17747A>G (p.Asp5916Gly) 776739582 MedGen:CN239479 2 151516514 151516514 T C 284595 single nucleotide variant NM_004543.4(NEB):c.17747A>G (p.Asp5916Gly) 776739582 MedGen:CN239479 2 152373028 152373028 T C 284597 single nucleotide variant NM_004543.4(NEB):c.16870G>A (p.Glu5624Lys) 747662624 MedGen:CN239479 2 151526235 151526235 C T 284597 single nucleotide variant NM_004543.4(NEB):c.16870G>A (p.Glu5624Lys) 747662624 MedGen:CN239479 2 152382749 152382749 C T 284616 single nucleotide variant NM_004543.4(NEB):c.16316T>C (p.Ile5439Thr) 200112795 MedGen:CN239479 2 151531895 151531895 A G 284616 single nucleotide variant NM_004543.4(NEB):c.16316T>C (p.Ile5439Thr) 200112795 MedGen:CN239479 2 152388409 152388409 A G 284620 single nucleotide variant NM_004543.4(NEB):c.16106A>G (p.Tyr5369Cys) 754366347 MedGen:CN239479 2 152392308 152392308 T C 284620 single nucleotide variant NM_004543.4(NEB):c.16106A>G (p.Tyr5369Cys) 754366347 MedGen:CN239479 2 151535794 151535794 T C 284621 single nucleotide variant NM_004543.4(NEB):c.15059T>C (p.Leu5020Pro) 111517514 MedGen:CN239479 2 151547734 151547734 A G 284621 single nucleotide variant NM_004543.4(NEB):c.15059T>C (p.Leu5020Pro) 111517514 MedGen:CN239479 2 152404248 152404248 A G 284622 single nucleotide variant NM_004543.4(NEB):c.14494G>A (p.Val4832Ile) 368484176 MedGen:CN239479 2 151553857 151553857 C T 284622 single nucleotide variant NM_004543.4(NEB):c.14494G>A (p.Val4832Ile) 368484176 MedGen:CN239479 2 152410371 152410371 C T 284625 insertion NM_004543.4(NEB):c.14325+8_14325+9insA 886054936 MedGen:CN239479 2 152411436 152411437 - T 284625 insertion NM_004543.4(NEB):c.14325+8_14325+9insA 886054936 MedGen:CN239479 2 151554922 151554923 - T 284631 single nucleotide variant NM_004543.4(NEB):c.14325+8C>A 773614835 MedGen:CN239479 2 152411437 152411437 G T 284631 single nucleotide variant NM_004543.4(NEB):c.14325+8C>A 773614835 MedGen:CN239479 2 151554923 151554923 G T 284633 single nucleotide variant NM_004543.4(NEB):c.13621A>G (p.Lys4541Glu) 886054937 MedGen:CN239479 2 152419292 152419292 T C 284633 single nucleotide variant NM_004543.4(NEB):c.13621A>G (p.Lys4541Glu) 886054937 MedGen:CN239479 2 151562778 151562778 T C 284643 single nucleotide variant NM_004543.4(NEB):c.13543T>C (p.Phe4515Leu) 202211102 MedGen:CN239479 2 151563653 151563653 A G 284643 single nucleotide variant NM_004543.4(NEB):c.13543T>C (p.Phe4515Leu) 202211102 MedGen:CN239479 2 152420167 152420167 A G 284660 single nucleotide variant NM_004543.4(NEB):c.13159-13C>T 374553944 MedGen:CN239479 2 152422132 152422132 G A 284660 single nucleotide variant NM_004543.4(NEB):c.13159-13C>T 374553944 MedGen:CN239479 2 151565618 151565618 G A 284661 single nucleotide variant NM_004543.4(NEB):c.12970C>T (p.Arg4324Cys) 765174060 MedGen:CN239479 2 151567251 151567251 G A 284661 single nucleotide variant NM_004543.4(NEB):c.12970C>T (p.Arg4324Cys) 765174060 MedGen:CN239479 2 152423765 152423765 G A 284663 single nucleotide variant NM_004543.4(NEB):c.12828T>C (p.Phe4276=) 886054938 MedGen:CN239479 2 151567393 151567393 A G 284663 single nucleotide variant NM_004543.4(NEB):c.12828T>C (p.Phe4276=) 886054938 MedGen:CN239479 2 152423907 152423907 A G 284664 duplication NM_004543.4(NEB):c.12532-4_12532-3dupTT 539518038 MedGen:CN239479 2 151568420 151568421 AA AAAA 284664 duplication NM_004543.4(NEB):c.12532-4_12532-3dupTT 539518038 MedGen:CN239479 2 152424934 152424935 AA AAAA 284668 single nucleotide variant NM_004543.4(NEB):c.12359G>A (p.Arg4120His) 773239926 MedGen:CN239479 2 151569341 151569341 C T 284668 single nucleotide variant NM_004543.4(NEB):c.12359G>A (p.Arg4120His) 773239926 MedGen:CN239479 2 152425855 152425855 C T 284669 single nucleotide variant NM_004543.4(NEB):c.12312C>T (p.Tyr4104=) 555516831 MedGen:CN239479 2 151570096 151570096 G A 284669 single nucleotide variant NM_004543.4(NEB):c.12312C>T (p.Tyr4104=) 555516831 MedGen:CN239479 2 152426610 152426610 G A 284689 single nucleotide variant NM_004543.4(NEB):c.11550G>A (p.Pro3850=) 367638234 MedGen:CN239479 2 151609860 151609860 C T 284689 single nucleotide variant NM_004543.4(NEB):c.11550G>A (p.Pro3850=) 367638234 MedGen:CN239479 2 152466374 152466374 C T 284691 single nucleotide variant NM_004543.4(NEB):c.10886C>G (p.Ser3629Cys) 886054940 MedGen:CN239479 2 151612376 151612376 G C 284691 single nucleotide variant NM_004543.4(NEB):c.10886C>G (p.Ser3629Cys) 886054940 MedGen:CN239479 2 152468890 152468890 G C 284692 single nucleotide variant NM_004543.4(NEB):c.10873-13A>T 886054941 MedGen:CN239479 2 151612402 151612402 T A 284692 single nucleotide variant NM_004543.4(NEB):c.10873-13A>T 886054941 MedGen:CN239479 2 152468916 152468916 T A 284694 single nucleotide variant NM_004543.4(NEB):c.10387A>G (p.Ile3463Val) 199551865 MedGen:CN239479 2 151617429 151617429 T C 284694 single nucleotide variant NM_004543.4(NEB):c.10387A>G (p.Ile3463Val) 199551865 MedGen:CN239479 2 152473943 152473943 T C 284697 single nucleotide variant NM_004543.4(NEB):c.10308G>A (p.Glu3436=) 886054942 MedGen:CN239479 2 151618314 151618314 C T 284697 single nucleotide variant NM_004543.4(NEB):c.10308G>A (p.Glu3436=) 886054942 MedGen:CN239479 2 152474828 152474828 C T 284702 single nucleotide variant NM_004543.4(NEB):c.9879C>T (p.Gly3293=) 144673752 MedGen:CN239479 2 151619715 151619715 G A 284702 single nucleotide variant NM_004543.4(NEB):c.9879C>T (p.Gly3293=) 144673752 MedGen:CN239479 2 152476229 152476229 G A 284704 single nucleotide variant NM_004543.4(NEB):c.9452T>C (p.Ile3151Thr) 376182104 MedGen:CN239479 2 151627168 151627168 A G 284704 single nucleotide variant NM_004543.4(NEB):c.9452T>C (p.Ile3151Thr) 376182104 MedGen:CN239479 2 152483682 152483682 A G 284707 single nucleotide variant NM_004543.4(NEB):c.9014A>G (p.Asn3005Ser) 139548702 MedGen:CN239479 2 151629627 151629627 T C 284707 single nucleotide variant NM_004543.4(NEB):c.9014A>G (p.Asn3005Ser) 139548702 MedGen:CN239479 2 152486141 152486141 T C 284711 single nucleotide variant NM_004543.4(NEB):c.8152A>T (p.Met2718Leu) 767511888 MedGen:CN239479 2 151643158 151643158 T A 284711 single nucleotide variant NM_004543.4(NEB):c.8152A>T (p.Met2718Leu) 767511888 MedGen:CN239479 2 152499672 152499672 T A 284712 single nucleotide variant NM_004543.4(NEB):c.7956+4A>G 886054944 MedGen:CN239479 2 151643814 151643814 T C 284712 single nucleotide variant NM_004543.4(NEB):c.7956+4A>G 886054944 MedGen:CN239479 2 152500328 152500328 T C 284713 single nucleotide variant NM_004543.4(NEB):c.7227+13T>G 373818296 MedGen:CN239479 2 151650561 151650561 A C 284713 single nucleotide variant NM_004543.4(NEB):c.7227+13T>G 373818296 MedGen:CN239479 2 152507075 152507075 A C 284716 single nucleotide variant NM_004543.4(NEB):c.6067A>G (p.Met2023Val) 779481792 MedGen:CN239479 2 151659073 151659073 T C 284716 single nucleotide variant NM_004543.4(NEB):c.6067A>G (p.Met2023Val) 779481792 MedGen:CN239479 2 152515587 152515587 T C 284719 single nucleotide variant NM_004543.4(NEB):c.6020T>C (p.Met2007Thr) 199862790 MedGen:CN239479 2 151659120 151659120 A G 284719 single nucleotide variant NM_004543.4(NEB):c.6020T>C (p.Met2007Thr) 199862790 MedGen:CN239479 2 152515634 152515634 A G 284720 single nucleotide variant NM_004543.4(NEB):c.5968G>A (p.Glu1990Lys) 146310692 MedGen:CN239479 2 151662137 151662137 C T 284720 single nucleotide variant NM_004543.4(NEB):c.5968G>A (p.Glu1990Lys) 146310692 MedGen:CN239479 2 152518651 152518651 C T 284721 single nucleotide variant NM_004543.4(NEB):c.4666C>T (p.Pro1556Ser) 756692621 MedGen:CN239479 2 151667857 151667857 G A 284721 single nucleotide variant NM_004543.4(NEB):c.4666C>T (p.Pro1556Ser) 756692621 MedGen:CN239479 2 152524371 152524371 G A 284734 single nucleotide variant NM_004543.4(NEB):c.4119C>G (p.Asn1373Lys) 377653217 MedGen:CN239479 2 151672549 151672549 G C 284734 single nucleotide variant NM_004543.4(NEB):c.4119C>G (p.Asn1373Lys) 377653217 MedGen:CN239479 2 152529063 152529063 G C 284735 single nucleotide variant NM_004543.4(NEB):c.4072T>C (p.Tyr1358His) 377054979 MedGen:CN239479 2 151672596 151672596 A G 284735 single nucleotide variant NM_004543.4(NEB):c.4072T>C (p.Tyr1358His) 377054979 MedGen:CN239479 2 152529110 152529110 A G 284736 single nucleotide variant NM_004543.4(NEB):c.3987+11A>T 116903097 MedGen:CN239479 2 151674466 151674466 T A 284736 single nucleotide variant NM_004543.4(NEB):c.3987+11A>T 116903097 MedGen:CN239479 2 152530980 152530980 T A 284738 single nucleotide variant NM_004543.4(NEB):c.3716G>T (p.Ser1239Ile) 201541240 MedGen:CN239479 2 151677623 151677623 C A 284738 single nucleotide variant NM_004543.4(NEB):c.3716G>T (p.Ser1239Ile) 201541240 MedGen:CN239479 2 152534137 152534137 C A 284748 single nucleotide variant NM_004543.4(NEB):c.3694C>G (p.Pro1232Ala) 776796255 MedGen:CN239479 2 151677645 151677645 G C 284748 single nucleotide variant NM_004543.4(NEB):c.3694C>G (p.Pro1232Ala) 776796255 MedGen:CN239479 2 152534159 152534159 G C 284749 single nucleotide variant NM_004543.4(NEB):c.3636C>T (p.Asp1212=) 144376972 MedGen:CN239479 2 151677703 151677703 G A 284749 single nucleotide variant NM_004543.4(NEB):c.3636C>T (p.Asp1212=) 144376972 MedGen:CN239479 2 152534217 152534217 G A 284759 single nucleotide variant NM_004543.4(NEB):c.2524-15G>T 151206071 MedGen:CN239479 2 151687547 151687547 C A 284759 single nucleotide variant NM_004543.4(NEB):c.2524-15G>T 151206071 MedGen:CN239479 2 152544061 152544061 C A 284760 single nucleotide variant NM_004543.4(NEB):c.2354A>G (p.His785Arg) 370296542 MedGen:CN239479 2 151688353 151688353 T C 284760 single nucleotide variant NM_004543.4(NEB):c.2354A>G (p.His785Arg) 370296542 MedGen:CN239479 2 152544867 152544867 T C 284768 single nucleotide variant NM_004543.4(NEB):c.1045A>C (p.Lys349Gln) 369153778 MedGen:CN239479 2 152563502 152563502 T G 284768 single nucleotide variant NM_004543.4(NEB):c.1045A>C (p.Lys349Gln) 369153778 MedGen:CN239479 2 151706988 151706988 T G 284772 single nucleotide variant NM_004543.4(NEB):c.177G>A (p.Gln59=) 200990309 MedGen:CN239479 2 152584322 152584322 C T 284772 single nucleotide variant NM_004543.4(NEB):c.177G>A (p.Gln59=) 200990309 MedGen:CN239479 2 151727808 151727808 C T 357225 single nucleotide variant NM_004543.4(NEB):c.8038C>T (p.Arg2680Ter) 1057516676 MedGen:C1850569,OMIM:256030 2 151643272 151643272 G A 357225 single nucleotide variant NM_004543.4(NEB):c.8038C>T (p.Arg2680Ter) 1057516676 MedGen:C1850569,OMIM:256030 2 152499786 152499786 G A 357226 indel NM_004543.4(NEB):c.7266_7268delAGGinsTC (p.Gly2423Hisfs) 1057516348 MedGen:C1850569,OMIM:256030 2 152506853 152506855 CCT GA 357226 indel NM_004543.4(NEB):c.7266_7268delAGGinsTC (p.Gly2423Hisfs) 1057516348 MedGen:C1850569,OMIM:256030 2 151650339 151650341 CCT GA 357227 single nucleotide variant NM_004543.4(NEB):c.7228-1G>A 1057516996 MedGen:C1850569,OMIM:256030 2 152506894 152506894 C T 357227 single nucleotide variant NM_004543.4(NEB):c.7228-1G>A 1057516996 MedGen:C1850569,OMIM:256030 2 151650380 151650380 C T 357228 deletion NM_004543.4(NEB):c.6078delA (p.Lys2026Asnfs) 1057516758 MedGen:C1850569,OMIM:256030 2 152514602 152514602 T - 357228 deletion NM_004543.4(NEB):c.6078delA (p.Lys2026Asnfs) 1057516758 MedGen:C1850569,OMIM:256030 2 151658088 151658088 T - 357229 single nucleotide variant NM_004543.4(NEB):c.5452-2A>G 1057517317 MedGen:C1850569,OMIM:256030 2 151663861 151663861 T C 357229 single nucleotide variant NM_004543.4(NEB):c.5452-2A>G 1057517317 MedGen:C1850569,OMIM:256030 2 152520375 152520375 T C 357230 single nucleotide variant NM_004543.4(NEB):c.3987+1G>A 780022652 MedGen:C1850569,OMIM:256030 2 151674476 151674476 C T 357230 single nucleotide variant NM_004543.4(NEB):c.3987+1G>A 780022652 MedGen:C1850569,OMIM:256030 2 152530990 152530990 C T 357231 single nucleotide variant NM_004543.4(NEB):c.3880-1G>T 1057516381 MedGen:C1850569,OMIM:256030 2 152531099 152531099 C A 357231 single nucleotide variant NM_004543.4(NEB):c.3880-1G>T 1057516381 MedGen:C1850569,OMIM:256030 2 151674585 151674585 C A 357232 single nucleotide variant NM_004543.4(NEB):c.2415+2T>C 1057517399 MedGen:C1850569,OMIM:256030 2 151688290 151688290 A G 357232 single nucleotide variant NM_004543.4(NEB):c.2415+2T>C 1057517399 MedGen:C1850569,OMIM:256030 2 152544804 152544804 A G 357233 deletion NM_004543.4(NEB):c.2391_2392delAG (p.Arg797Serfs) 1057516938 MedGen:C1850569,OMIM:256030 2 152544829 152544830 CT - 357233 deletion NM_004543.4(NEB):c.2391_2392delAG (p.Arg797Serfs) 1057516938 MedGen:C1850569,OMIM:256030 2 151688315 151688316 CT - 357234 deletion NM_004543.4(NEB):c.1672_1674+2del5 1057516739 MedGen:C1850569,OMIM:256030 2 151695576 151695580 ACATC - 357234 deletion NM_004543.4(NEB):c.1672_1674+2del5 1057516739 MedGen:C1850569,OMIM:256030 2 152552090 152552094 ACATC - 357235 single nucleotide variant NM_004543.4(NEB):c.412C>T (p.Arg138Ter) 1057517360 MedGen:C1850569,OMIM:256030 2 151724952 151724952 G A 357235 single nucleotide variant NM_004543.4(NEB):c.412C>T (p.Arg138Ter) 1057517360 MedGen:C1850569,OMIM:256030 2 152581466 152581466 G A 359277 single nucleotide variant NM_001271208.1(NEB):c.17262G>A (p.Trp5754Ter) 1057518200 MedGen:CN221809 2 151570249 151570249 C T 359277 single nucleotide variant NM_001271208.1(NEB):c.17262G>A (p.Trp5754Ter) 1057518200 MedGen:CN221809 2 152426763 152426763 C T 359286 single nucleotide variant NM_001271208.1(NEB):c.2200C>G (p.Gln734Glu) 780299519 MedGen:CN169374 2 151691875 151691875 G C 359286 single nucleotide variant NM_001271208.1(NEB):c.2200C>G (p.Gln734Glu) 780299519 MedGen:CN169374 2 152548389 152548389 G C 359295 single nucleotide variant NM_001271208.1(NEB):c.4720-2A>G 1057518353 MedGen:CN221809 2 151666403 151666403 T C 359295 single nucleotide variant NM_001271208.1(NEB):c.4720-2A>G 1057518353 MedGen:CN221809 2 152522917 152522917 T C 359297 single nucleotide variant NM_001271208.1(NEB):c.4528G>A (p.Glu1510Lys) 370064863 MedGen:CN169374 2 151669110 151669110 C T 359297 single nucleotide variant NM_001271208.1(NEB):c.4528G>A (p.Glu1510Lys) 370064863 MedGen:CN169374 2 152525624 152525624 C T 359388 duplication NM_001271208.1(NEB):c.24607_24609dupAAT (p.Asn8203_Val8204insAsn) 1057518617 MedGen:CN169374 2 151494236 151494238 ATT ATTATT 359388 duplication NM_001271208.1(NEB):c.24607_24609dupAAT (p.Asn8203_Val8204insAsn) 1057518617 MedGen:CN169374 2 152350750 152350750 ATT ATTATT 359394 single nucleotide variant NM_001271208.1(NEB):c.9046C>T (p.Arg3016Ter) 1057517977 MedGen:CN221809 2 151636283 151636283 G A 359394 single nucleotide variant NM_001271208.1(NEB):c.9046C>T (p.Arg3016Ter) 1057517977 MedGen:CN221809 2 152492797 152492797 G A 360820 single nucleotide variant NM_001271208.1(NEB):c.24094C>T (p.Arg8032Ter) 549794342 Human Phenotype Ontology:HP:0009763,MedGen:CN008622;Human Phenotype Ontology:HP:0003560,MedGen:C1864711;Human Phenotype Ontology:HP:0009073,MedGen:C1836156;MedGen:CN221809 2 152357937 152357937 G A 360820 single nucleotide variant NM_001271208.1(NEB):c.24094C>T (p.Arg8032Ter) 549794342 Human Phenotype Ontology:HP:0009763,MedGen:CN008622;Human Phenotype Ontology:HP:0003560,MedGen:C1864711;Human Phenotype Ontology:HP:0009073,MedGen:C1836156;MedGen:CN221809 2 151501423 151501423 G A 360821 single nucleotide variant NM_001271208.1(NEB):c.7362C>G (p.Asn2454Lys) 1057518861 Human Phenotype Ontology:HP:0003741,MedGen:CN003380;Human Phenotype Ontology:HP:0001324,MedGen:C0151786 2 152506759 152506759 G C 360821 single nucleotide variant NM_001271208.1(NEB):c.7362C>G (p.Asn2454Lys) 1057518861 Human Phenotype Ontology:HP:0003741,MedGen:CN003380;Human Phenotype Ontology:HP:0001324,MedGen:C0151786 2 151650245 151650245 G C 361458 insertion NM_001271208.1(NEB):c.183_184insCTGGCACAGCCAGCA (p.Ala61_Ser62insLeuAlaGlnProAla) 770886969 MedGen:CN221809 2 151727801 151727802 - TGCTGGCTGTGCCAG 361458 insertion NM_001271208.1(NEB):c.183_184insCTGGCACAGCCAGCA (p.Ala61_Ser62insLeuAlaGlnProAla) 770886969 MedGen:CN221809 2 152584315 152584316 - TGCTGGCTGTGCCAG

Disease associated variation - GWASdb Chr Pos SNP ID(dbSNP 142) Ref Alt Ori SNP ID P-value Drug Name Drug Anno GWAS Trait HPO ID DO ID AA Type Trait or Drug 2 152481977 rs10186482 A G rs10186482 6.87E-05 ACETAMINOPHEN|GLUTATHIONE N-ACETYL-4-BENZOQUINONEIMINE|RNA, MESSENGER|IMINES|BENZOQUINONES Response to acetaminophen (hepatotoxicity) HPOID:0001392 DOID:409 A,G intron GWASdb_drug 2 152342481 rs16830090 A G rs16830090 4.45E-04 White matter integrity HPOID:0002500 DOID:3312|DOID:936 A intron GWASdb_trait 2 152346494 rs13031275 A C rs13031275 5.63E-06 Waist Circumference HPOID:0001513 DOID:9970 A cds-synon GWASdb_trait 2 152346494 rs13031275 A C rs13031275 1.01E-05 Waist-Hip Ratio HPOID:0001513 DOID:9970 A cds-synon GWASdb_trait 2 152363484 rs34368668 G A rs34368668 0.000000577 LDL cholesterol HPOID:0010979 DOID:1936|DOID:3393 C missense GWASdb_trait 2 152393422 rs12996964 T C rs12996964 9.00E-05 Fibrinogen HPOID:0011898 DOID:1287 T intron GWASdb_trait 2 152467001 rs11902616 C T rs11902616 3.43E-05 Serum selenium levels HPOID:0001877 DOID:0050138|DOID:74 C intron GWASdb_trait 2 152476130 rs6717213 C T rs6717213 3.23E-05 Serum selenium levels HPOID:0001877 DOID:0050138|DOID:74 C cds-synon GWASdb_trait 2 152481977 rs10186482 A G rs10186482 6.87E-05 Response to acetaminophen (hepatotoxicity) HPOID:0001392 DOID:409 A,G intron GWASdb_trait 2 152499355 rs76767949 T C rs76767949 0.00032 Prostate cancer HPOID:0012125 DOID:10283 T missense GWASdb_trait 2 152511515 rs11885813 T A rs11885813 1.71E-05 Sleep duration HPOID:0006979 DOID:535 T intron GWASdb_trait 2 152517979 rs10192459 T C rs10192459 2.53E-05 Sleep duration HPOID:0006979 DOID:535 T intron GWASdb_trait 2 152521983 rs117271684 A G rs117271684 0.00069 Prostate cancer HPOID:0012125 DOID:10283 A missense GWASdb_trait 2 152534545 rs117048449 T C rs117048449 0.00069 Prostate cancer HPOID:0012125 DOID:10283 T missense GWASdb_trait 2 152585020 rs13025954 C T rs13025954 1.66E-04 Birth weight HPOID:0004323 DOID:783|DOID:9352|DOID:1287 C intron GWASdb_trait

Disease associated variation - GWAS Central Study Name Source Marker Accession Chromosome Marker Start Marker Stop Alleles Gene Section P-value -log(p-value) GWAS of prostate cancer rs10192459 2 152517979 152517979 intronic 0.948758 0.0228445490767455 GWAS of prostate cancer rs4664493 2 152492324 152492324 intronic 0.859419 0.0657950491813889 GWAS of prostate cancer rs3732311 2 152423605 152423605 intronic 0.660092 0.18039553065836603

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000183091.19 NEB 161650