Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 17049 single nucleotide variant NM_001134831.1(AHI1):c.1051C>T (p.Arg351Ter) 121434348 MedGen:C1837713,OMIM:608629 6 135778732 135778732 G A 17049 single nucleotide variant NM_001134831.1(AHI1):c.1051C>T (p.Arg351Ter) 121434348 MedGen:C1837713,OMIM:608629 6 135457594 135457594 G A 17050 single nucleotide variant NM_001134831.1(AHI1):c.1303C>T (p.Arg435Ter) 121434349 MedGen:C1837713,OMIM:608629 6 135776913 135776913 G A 17050 single nucleotide variant NM_001134831.1(AHI1):c.1303C>T (p.Arg435Ter) 121434349 MedGen:C1837713,OMIM:608629 6 135455775 135455775 G A 17051 single nucleotide variant NM_001134832.1(AHI1):c.1328T>A (p.Val443Asp) 121434350 Human Phenotype Ontology:HP:0001263,MedGen:CN001157;MedGen:C1837713,OMIM:608629;MedGen:CN228298 6 135776888 135776888 A T 17051 single nucleotide variant NM_001134832.1(AHI1):c.1328T>A (p.Val443Asp) 121434350 Human Phenotype Ontology:HP:0001263,MedGen:CN001157;MedGen:C1837713,OMIM:608629;MedGen:CN228298 6 135455750 135455750 A T 17052 deletion NM_001134831.1(AHI1):c.3263_3264delGG (p.Trp1088Leufs) 387906269 MedGen:C1837713,OMIM:608629 6 135644364 135644365 CC - 17052 deletion NM_001134831.1(AHI1):c.3263_3264delGG (p.Trp1088Leufs) 387906269 MedGen:C1837713,OMIM:608629 6 135323226 135323227 CC - 17053 single nucleotide variant NM_001134831.1(AHI1):c.1765C>T (p.Arg589Ter) 267606641 MedGen:C1837713,OMIM:608629 6 135768160 135768160 G A 17053 single nucleotide variant NM_001134831.1(AHI1):c.1765C>T (p.Arg589Ter) 267606641 MedGen:C1837713,OMIM:608629 6 135447022 135447022 G A 17054 single nucleotide variant NM_001134831.1(AHI1):c.2168G>A (p.Arg723Gln) 121434351 MedGen:C1837713,OMIM:608629 6 135754263 135754263 C T 17054 single nucleotide variant NM_001134831.1(AHI1):c.2168G>A (p.Arg723Gln) 121434351 MedGen:C1837713,OMIM:608629 6 135433125 135433125 C T 17055 insertion NM_001134831.1(AHI1):c.2368_2369insT (p.Asn790Ilefs) 387906270 MedGen:C1837713,OMIM:608629 6 135752350 135752351 - A 17055 insertion NM_001134831.1(AHI1):c.2368_2369insT (p.Asn790Ilefs) 387906270 MedGen:C1837713,OMIM:608629 6 135431212 135431213 - A 39717 single nucleotide variant NM_017651.4(AHI1):c.985C>T (p.Arg329Ter) 201391050 MedGen:C1837713,OMIM:608629;MedGen:CN221809 6 135778798 135778798 G A 39717 single nucleotide variant NM_017651.4(AHI1):c.985C>T (p.Arg329Ter) 201391050 MedGen:C1837713,OMIM:608629;MedGen:CN221809 6 135457660 135457660 G A 39718 single nucleotide variant NM_001134831.1(AHI1):c.1484G>A (p.Arg495His) 387907003 MedGen:C1837713,OMIM:608629 6 135769570 135769570 C T 39718 single nucleotide variant NM_001134831.1(AHI1):c.1484G>A (p.Arg495His) 387907003 MedGen:C1837713,OMIM:608629 6 135448432 135448432 C T 73425 copy number loss GRCh38/hg38 6q23.3(chr6:135397890-135406717)x1 -1 - 6 135719028 135727855 na na 73425 copy number loss GRCh38/hg38 6q23.3(chr6:135397890-135406717)x1 -1 - 6 135397890 135406717 na na 73425 copy number loss GRCh38/hg38 6q23.3(chr6:135397890-135406717)x1 -1 - 6 135760721 135769548 na na 75116 single nucleotide variant NM_001134831.1(AHI1):c.1052G>T (p.Arg351Leu) 397514726 MedGen:C1837713,OMIM:608629 6 135778731 135778731 C A 75116 single nucleotide variant NM_001134831.1(AHI1):c.1052G>T (p.Arg351Leu) 397514726 MedGen:C1837713,OMIM:608629 6 135457593 135457593 C A 101652 single nucleotide variant NM_001134831.1(AHI1):c.2972G>A (p.Arg991His) 35851478 MedGen:CN169374 6 135726105 135726105 C T 101652 single nucleotide variant NM_001134831.1(AHI1):c.2972G>A (p.Arg991His) 35851478 MedGen:CN169374 6 135404967 135404967 C T 101653 single nucleotide variant NM_017651.4(AHI1):c.3368C>T (p.Ser1123Phe) 117447608 MedGen:C1837713,OMIM:608629;MedGen:CN169374 6 135639715 135639715 G A 101653 single nucleotide variant NM_017651.4(AHI1):c.3368C>T (p.Ser1123Phe) 117447608 MedGen:C1837713,OMIM:608629;MedGen:CN169374 6 135318577 135318577 G A 101654 single nucleotide variant NM_017651.4(AHI1):c.3426+13G>A 6914831 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399;MedGen:CN169374 6 135639644 135639644 C T 101654 single nucleotide variant NM_017651.4(AHI1):c.3426+13G>A 6914831 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399;MedGen:CN169374 6 135318506 135318506 C T 133770 single nucleotide variant NM_017651.4(AHI1):c.72T>C (p.Ser24=) 73777558 MedGen:CN169374 6 135811824 135811824 A G 133770 single nucleotide variant NM_017651.4(AHI1):c.72T>C (p.Ser24=) 73777558 MedGen:CN169374 6 135490686 135490686 A G 133771 single nucleotide variant NM_017651.4(AHI1):c.1643G>A (p.Arg548His) 35433555 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399;MedGen:CN169374 6 135768282 135768282 C T 133771 single nucleotide variant NM_017651.4(AHI1):c.1643G>A (p.Arg548His) 35433555 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399;MedGen:CN169374 6 135447144 135447144 C T 133772 single nucleotide variant NM_017651.4(AHI1):c.2223T>C (p.Asp741=) 2273761 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399;MedGen:CN169374 6 135754208 135754208 A G 133772 single nucleotide variant NM_017651.4(AHI1):c.2223T>C (p.Asp741=) 2273761 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399;MedGen:CN169374 6 135433070 135433070 A G 133773 single nucleotide variant NM_017651.4(AHI1):c.2488C>T (p.Arg830Trp) 13312995 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399;MedGen:CN169374 6 135751024 135751024 G A 133773 single nucleotide variant NM_017651.4(AHI1):c.2488C>T (p.Arg830Trp) 13312995 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399;MedGen:CN169374 6 135429886 135429886 G A 133774 single nucleotide variant NM_017651.4(AHI1):c.2624-6A>G 41288015 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399;MedGen:CN169374 6 135748451 135748451 T C 133774 single nucleotide variant NM_017651.4(AHI1):c.2624-6A>G 41288015 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399;MedGen:CN169374 6 135427313 135427313 T C 133775 single nucleotide variant NM_017651.4(AHI1):c.3015A>G (p.Ser1005=) 41287054 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399;MedGen:CN169374 6 135716008 135716008 T C 133775 single nucleotide variant NM_017651.4(AHI1):c.3015A>G (p.Ser1005=) 41287054 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399;MedGen:CN169374 6 135394870 135394870 T C 133776 single nucleotide variant NM_017651.4(AHI1):c.3053A>C (p.Gln1018Pro) 6940875 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399;MedGen:CN221809;MedGen:CN169374 6 135715970 135715970 T G 133776 single nucleotide variant NM_017651.4(AHI1):c.3053A>C (p.Gln1018Pro) 6940875 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399;MedGen:CN221809;MedGen:CN169374 6 135394832 135394832 T G 133777 single nucleotide variant NM_017651.4(AHI1):c.804A>C (p.Ser268=) 35528530 MedGen:CN169374 6 135784390 135784390 T G 133777 single nucleotide variant NM_017651.4(AHI1):c.804A>C (p.Ser268=) 35528530 MedGen:CN169374 6 135463252 135463252 T G 152870 single nucleotide variant NM_017651.4(AHI1):c.3257A>G (p.Glu1086Gly) 148000791 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399;MedGen:C1837713,OMIM:608629;MedGen:CN221809;MedGen:CN169374 6 135644371 135644371 T C 152870 single nucleotide variant NM_017651.4(AHI1):c.3257A>G (p.Glu1086Gly) 148000791 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399;MedGen:C1837713,OMIM:608629;MedGen:CN221809;MedGen:CN169374 6 135323233 135323233 T C 166163 single nucleotide variant NM_017651.4(AHI1):c.2174G>A (p.Trp725Ter) 587783013 MedGen:C1837713,OMIM:608629 6 135433119 135433119 C T 166163 single nucleotide variant NM_017651.4(AHI1):c.2174G>A (p.Trp725Ter) 587783013 MedGen:C1837713,OMIM:608629 6 135754257 135754257 C T 166164 deletion NM_017651.4(AHI1):c.2598_2604delAGTGTAT (p.Ile866Metfs) 587783014 MedGen:C1837713,OMIM:608629 6 135428648 135428654 ATACACT - 166164 deletion NM_017651.4(AHI1):c.2598_2604delAGTGTAT (p.Ile866Metfs) 587783014 MedGen:C1837713,OMIM:608629 6 135749786 135749792 ATACACT - 177234 single nucleotide variant NM_017651.4(AHI1):c.517G>A (p.Ala173Thr) 146416468 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399;MedGen:CN169374 6 135787184 135787184 C T 177234 single nucleotide variant NM_017651.4(AHI1):c.517G>A (p.Ala173Thr) 146416468 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399;MedGen:CN169374 6 135466046 135466046 C T 177477 indel NM_017651.4(AHI1):c.2961+7_2961+21delTTATTTTATGCAGTTinsGACTTTTTTAAAGTTTTAAA 786200964 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399;MedGen:CN169374 6 135732465 135732479 AACTGCATAAAATAA TTTAAAACTTTAAAAAAGTC 177477 indel NM_017651.4(AHI1):c.2961+7_2961+21delTTATTTTATGCAGTTinsGACTTTTTTAAAGTTTTAAA 786200964 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399;MedGen:CN169374 6 135411327 135411341 AACTGCATAAAATAA TTTAAAACTTTAAAAAAGTC 191418 single nucleotide variant NM_001134831.1(AHI1):c.1791C>T (p.Ile597=) 150425546 MedGen:CN169374 6 135763841 135763841 G A 191418 single nucleotide variant NM_001134831.1(AHI1):c.1791C>T (p.Ile597=) 150425546 MedGen:CN169374 6 135442703 135442703 G A 191827 single nucleotide variant NM_001134831.1(AHI1):c.2282C>T (p.Ser761Leu) 794727174 MedGen:C1837713,OMIM:608629;MedGen:CN169374 6 135752437 135752437 G A 191827 single nucleotide variant NM_001134831.1(AHI1):c.2282C>T (p.Ser761Leu) 794727174 MedGen:C1837713,OMIM:608629;MedGen:CN169374 6 135431299 135431299 G A 192032 single nucleotide variant NM_017651.4(AHI1):c.2505G>A (p.Arg835=) 41288017 MedGen:CN169374 6 135749885 135749885 C T 192032 single nucleotide variant NM_017651.4(AHI1):c.2505G>A (p.Arg835=) 41288017 MedGen:CN169374 6 135428747 135428747 C T 192679 single nucleotide variant NM_017651.4(AHI1):c.2798A>G (p.Tyr933Cys) 41288013 MedGen:CN169374 6 135732649 135732649 T C 192679 single nucleotide variant NM_017651.4(AHI1):c.2798A>G (p.Tyr933Cys) 41288013 MedGen:CN169374 6 135411511 135411511 T C 192680 single nucleotide variant NM_001134831.1(AHI1):c.2808A>G (p.Thr936=) 373772212 MedGen:CN169374 6 135732639 135732639 T C 192680 single nucleotide variant NM_001134831.1(AHI1):c.2808A>G (p.Thr936=) 373772212 MedGen:CN169374 6 135411501 135411501 T C 192931 single nucleotide variant NM_017651.4(AHI1):c.3164C>T (p.Thr1055Met) 73559947 MedGen:CN169374 6 135679271 135679271 G A 192931 single nucleotide variant NM_017651.4(AHI1):c.3164C>T (p.Thr1055Met) 73559947 MedGen:CN169374 6 135358133 135358133 G A 192993 single nucleotide variant NM_001134831.1(AHI1):c.3223G>A (p.Gly1075Arg) 750115460 MedGen:CN169374 6 135644405 135644405 C T 192993 single nucleotide variant NM_001134831.1(AHI1):c.3223G>A (p.Gly1075Arg) 750115460 MedGen:CN169374 6 135323267 135323267 C T 193197 single nucleotide variant NM_017651.4(AHI1):c.3579T>C (p.Thr1193=) 115338154 MedGen:CN169374 6 135611570 135611570 A G 193197 single nucleotide variant NM_017651.4(AHI1):c.3579T>C (p.Thr1193=) 115338154 MedGen:CN169374 6 135290432 135290432 A G 196042 single nucleotide variant NM_017651.4(AHI1):c.1033T>A (p.Leu345Met) 200927282 MedGen:CN169374 6 135457612 135457612 A T 196042 single nucleotide variant NM_017651.4(AHI1):c.1033T>A (p.Leu345Met) 200927282 MedGen:CN169374 6 135778750 135778750 A T 196300 single nucleotide variant NM_001134831.1(AHI1):c.1157G>A (p.Arg386Gln) 371243793 MedGen:CN169374 6 135777059 135777059 C T 196300 single nucleotide variant NM_001134831.1(AHI1):c.1157G>A (p.Arg386Gln) 371243793 MedGen:CN169374 6 135455921 135455921 C T 198627 deletion NM_001134831.1(AHI1):c.1205delC (p.Pro402Leufs) 794729195 MedGen:C1837713,OMIM:608629 6 135455873 135455873 G - 198627 deletion NM_001134831.1(AHI1):c.1205delC (p.Pro402Leufs) 794729195 MedGen:C1837713,OMIM:608629 6 135777011 135777011 G - 207325 single nucleotide variant NM_017651.4(AHI1):c.2087A>G (p.His696Arg) 797045224 MedGen:C1837713,OMIM:608629 6 135433206 135433206 T C 207325 single nucleotide variant NM_017651.4(AHI1):c.2087A>G (p.His696Arg) 797045224 MedGen:C1837713,OMIM:608629 6 135754344 135754344 T C 207326 single nucleotide variant NM_017651.4(AHI1):c.1861G>T (p.Gly621Ter) 797045223 MedGen:C1837713,OMIM:608629 6 135763771 135763771 C A 207326 single nucleotide variant NM_017651.4(AHI1):c.1861G>T (p.Gly621Ter) 797045223 MedGen:C1837713,OMIM:608629 6 135442633 135442633 C A 212518 single nucleotide variant NM_017651.4(AHI1):c.3418C>T (p.Pro1140Ser) 201148693 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399;MedGen:CN169374 6 135639665 135639665 G A 212518 single nucleotide variant NM_017651.4(AHI1):c.3418C>T (p.Pro1140Ser) 201148693 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399;MedGen:CN169374 6 135318527 135318527 G A 212519 single nucleotide variant NM_017651.4(AHI1):c.989A>G (p.Asp330Gly) 200201741 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399;MedGen:CN169374 6 135778794 135778794 T C 212519 single nucleotide variant NM_017651.4(AHI1):c.989A>G (p.Asp330Gly) 200201741 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399;MedGen:CN169374 6 135457656 135457656 T C 213564 single nucleotide variant NM_017651.4(AHI1):c.2561G>T (p.Cys854Phe) 745507530 MedGen:C1837713,OMIM:608629 6 135428691 135428691 C A 213564 single nucleotide variant NM_017651.4(AHI1):c.2561G>T (p.Cys854Phe) 745507530 MedGen:C1837713,OMIM:608629 6 135749829 135749829 C A 214230 single nucleotide variant NM_001134831.1(AHI1):c.2705T>A (p.Val902Asp) 368788993 MedGen:C1837713,OMIM:608629 6 135427226 135427226 A T 214230 single nucleotide variant NM_001134831.1(AHI1):c.2705T>A (p.Val902Asp) 368788993 MedGen:C1837713,OMIM:608629 6 135748364 135748364 A T 214231 single nucleotide variant NM_001134831.1(AHI1):c.2687A>G (p.His896Arg) 863225135 MedGen:C1837713,OMIM:608629 6 135427244 135427244 T C 214231 single nucleotide variant NM_001134831.1(AHI1):c.2687A>G (p.His896Arg) 863225135 MedGen:C1837713,OMIM:608629 6 135748382 135748382 T C 214232 single nucleotide variant NM_001134831.1(AHI1):c.2495T>G (p.Leu832Ter) 863225131 MedGen:C1837713,OMIM:608629 6 135428757 135428757 A C 214232 single nucleotide variant NM_001134831.1(AHI1):c.2495T>G (p.Leu832Ter) 863225131 MedGen:C1837713,OMIM:608629 6 135749895 135749895 A C 214233 single nucleotide variant NM_001134831.1(AHI1):c.2361G>T (p.Trp787Cys) 863225146 MedGen:C1837713,OMIM:608629 6 135431220 135431220 C A 214233 single nucleotide variant NM_001134831.1(AHI1):c.2361G>T (p.Trp787Cys) 863225146 MedGen:C1837713,OMIM:608629 6 135752358 135752358 C A 214234 single nucleotide variant NM_001134831.1(AHI1):c.2297G>A (p.Gly766Glu) 863225139 MedGen:C1837713,OMIM:608629 6 135431284 135431284 C T 214234 single nucleotide variant NM_001134831.1(AHI1):c.2297G>A (p.Gly766Glu) 863225139 MedGen:C1837713,OMIM:608629 6 135752422 135752422 C T 214235 single nucleotide variant NM_001134831.1(AHI1):c.2212C>T (p.Arg738Ter) 372659908 MedGen:C1837713,OMIM:608629;MedGen:CN221809 6 135433081 135433081 G A 214235 single nucleotide variant NM_001134831.1(AHI1):c.2212C>T (p.Arg738Ter) 372659908 MedGen:C1837713,OMIM:608629;MedGen:CN221809 6 135754219 135754219 G A 214236 deletion NM_001134831.1(AHI1):c.2187_2196delGAGAGAAGAT (p.Met729Ilefs) 863225140 MedGen:C1837713,OMIM:608629 6 135433097 135433106 ATCTTCTCTC - 214236 deletion NM_001134831.1(AHI1):c.2187_2196delGAGAGAAGAT (p.Met729Ilefs) 863225140 MedGen:C1837713,OMIM:608629 6 135754235 135754244 ATCTTCTCTC - 214237 single nucleotide variant NM_001134831.1(AHI1):c.2173T>C (p.Trp725Arg) 863225144 MedGen:C1837713,OMIM:608629 6 135433120 135433120 A G 214237 single nucleotide variant NM_001134831.1(AHI1):c.2173T>C (p.Trp725Arg) 863225144 MedGen:C1837713,OMIM:608629 6 135754258 135754258 A G 214238 deletion NM_001134831.1(AHI1):c.2172delA (p.Trp725Glyfs) 755407014 MedGen:C1837713,OMIM:608629 6 135433121 135433121 T - 214238 deletion NM_001134831.1(AHI1):c.2172delA (p.Trp725Glyfs) 755407014 MedGen:C1837713,OMIM:608629 6 135754259 135754259 T - 214239 single nucleotide variant NM_001134831.1(AHI1):c.2156A>G (p.Asp719Gly) 863225134 MedGen:C1837713,OMIM:608629 6 135433137 135433137 T C 214239 single nucleotide variant NM_001134831.1(AHI1):c.2156A>G (p.Asp719Gly) 863225134 MedGen:C1837713,OMIM:608629 6 135754275 135754275 T C 214240 duplication NM_001134831.1(AHI1):c.2098_2099dupGT (p.Tyr701Phefs) 863225136 MedGen:C1837713,OMIM:608629 6 135754332 135754333 AC ACAC 214240 duplication NM_001134831.1(AHI1):c.2098_2099dupGT (p.Tyr701Phefs) 863225136 MedGen:C1837713,OMIM:608629 6 135433194 135433195 AC ACAC 214241 single nucleotide variant NM_001134831.1(AHI1):c.2036+1G>T 776093293 MedGen:C1837713,OMIM:608629 6 135438374 135438374 C A 214241 single nucleotide variant NM_001134831.1(AHI1):c.2036+1G>T 776093293 MedGen:C1837713,OMIM:608629 6 135759512 135759512 C A 214242 single nucleotide variant NM_001134831.1(AHI1):c.2023G>A (p.Asp675Asn) 863225145 MedGen:C1837713,OMIM:608629 6 135438388 135438388 C T 214242 single nucleotide variant NM_001134831.1(AHI1):c.2023G>A (p.Asp675Asn) 863225145 MedGen:C1837713,OMIM:608629 6 135759526 135759526 C T 214243 single nucleotide variant NM_001134831.1(AHI1):c.2012C>T (p.Thr671Ile) 772989270 MedGen:C1837713,OMIM:608629 6 135438399 135438399 G A 214243 single nucleotide variant NM_001134831.1(AHI1):c.2012C>T (p.Thr671Ile) 772989270 MedGen:C1837713,OMIM:608629 6 135759537 135759537 G A 214244 single nucleotide variant NM_001134831.1(AHI1):c.1997A>T (p.Asp666Val) 863225147 MedGen:C1837713,OMIM:608629;MedGen:CN221809 6 135759552 135759552 T A 214244 single nucleotide variant NM_001134831.1(AHI1):c.1997A>T (p.Asp666Val) 863225147 MedGen:C1837713,OMIM:608629;MedGen:CN221809 6 135438414 135438414 T A 214245 single nucleotide variant NM_001134831.1(AHI1):c.1976A>T (p.Asp659Val) 541041911 MedGen:C1837713,OMIM:608629 6 135438435 135438435 T A 214245 single nucleotide variant NM_001134831.1(AHI1):c.1976A>T (p.Asp659Val) 541041911 MedGen:C1837713,OMIM:608629 6 135759573 135759573 T A 214246 single nucleotide variant NM_001134831.1(AHI1):c.1917T>A (p.Tyr639Ter) 764412921 MedGen:C1837713,OMIM:608629 6 135438494 135438494 A T 214246 single nucleotide variant NM_001134831.1(AHI1):c.1917T>A (p.Tyr639Ter) 764412921 MedGen:C1837713,OMIM:608629 6 135759632 135759632 A T 214247 duplication NM_001134831.1(AHI1):c.1897_1898dupGG (p.Tyr634Aspfs) 863225132 MedGen:C1837713,OMIM:608629 6 135442596 135442597 CC CCCC 214247 duplication NM_001134831.1(AHI1):c.1897_1898dupGG (p.Tyr634Aspfs) 863225132 MedGen:C1837713,OMIM:608629 6 135763734 135763735 CC CCCC 214248 insertion NM_001134831.1(AHI1):c.1626+4_1626+5insTTAC 863225148 MedGen:C1837713,OMIM:608629 6 135448285 135448286 - GTAA 214248 insertion NM_001134831.1(AHI1):c.1626+4_1626+5insTTAC 863225148 MedGen:C1837713,OMIM:608629 6 135769423 135769424 - GTAA 214249 single nucleotide variant NM_001134831.1(AHI1):c.1626+1G>A 863225137 MedGen:C1837713,OMIM:608629 6 135769427 135769427 C T 214249 single nucleotide variant NM_001134831.1(AHI1):c.1626+1G>A 863225137 MedGen:C1837713,OMIM:608629 6 135448289 135448289 C T 214250 deletion NM_001134831.1(AHI1):c.1614delA (p.Val539Phefs) 863225141 MedGen:C1837713,OMIM:608629 6 135448302 135448302 T - 214250 deletion NM_001134831.1(AHI1):c.1614delA (p.Val539Phefs) 863225141 MedGen:C1837713,OMIM:608629 6 135769440 135769440 T - 214251 single nucleotide variant NM_001134831.1(AHI1):c.1516C>T (p.Arg506Ter) 371637724 MedGen:C1837713,OMIM:608629 6 135448400 135448400 G A 214251 single nucleotide variant NM_001134831.1(AHI1):c.1516C>T (p.Arg506Ter) 371637724 MedGen:C1837713,OMIM:608629 6 135769538 135769538 G A 214252 single nucleotide variant NM_001134831.1(AHI1):c.1267C>T (p.Gln423Ter) 777668842 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399;MedGen:C1837713,OMIM:608629 6 135455811 135455811 G A 214252 single nucleotide variant NM_001134831.1(AHI1):c.1267C>T (p.Gln423Ter) 777668842 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399;MedGen:C1837713,OMIM:608629 6 135776949 135776949 G A 214253 single nucleotide variant NM_001134831.1(AHI1):c.1260G>A (p.Trp420Ter) 863225143 MedGen:C1837713,OMIM:608629 6 135455818 135455818 C T 214253 single nucleotide variant NM_001134831.1(AHI1):c.1260G>A (p.Trp420Ter) 863225143 MedGen:C1837713,OMIM:608629 6 135776956 135776956 C T 214254 single nucleotide variant NM_001134831.1(AHI1):c.1152-2A>G 753085250 MedGen:C1837713,OMIM:608629 6 135777066 135777066 T C 214254 single nucleotide variant NM_001134831.1(AHI1):c.1152-2A>G 753085250 MedGen:C1837713,OMIM:608629 6 135455928 135455928 T C 214255 single nucleotide variant NM_001134831.1(AHI1):c.1115A>G (p.Asp372Gly) 863225133 MedGen:C1837713,OMIM:608629 6 135778668 135778668 T C 214255 single nucleotide variant NM_001134831.1(AHI1):c.1115A>G (p.Asp372Gly) 863225133 MedGen:C1837713,OMIM:608629 6 135457530 135457530 T C 214256 duplication NM_001134831.1(AHI1):c.910dupA (p.Thr304Asnfs) 779410126 MedGen:C1837713,OMIM:608629 6 135784284 135784284 T TT 214256 duplication NM_001134831.1(AHI1):c.910dupA (p.Thr304Asnfs) 779410126 MedGen:C1837713,OMIM:608629 6 135463146 135463146 T TT 214257 single nucleotide variant NM_001134831.1(AHI1):c.736A>T (p.Lys246Ter) 863225142 MedGen:C1837713,OMIM:608629 6 135786965 135786965 T A 214257 single nucleotide variant NM_001134831.1(AHI1):c.736A>T (p.Lys246Ter) 863225142 MedGen:C1837713,OMIM:608629 6 135465827 135465827 T A 214258 single nucleotide variant NM_001134831.1(AHI1):c.662C>G (p.Ser221Ter) 863225138 MedGen:C1837713,OMIM:608629 6 135465901 135465901 G C 214258 single nucleotide variant NM_001134831.1(AHI1):c.662C>G (p.Ser221Ter) 863225138 MedGen:C1837713,OMIM:608629 6 135787039 135787039 G C 221625 single nucleotide variant NM_017651.4(AHI1):c.3589-5T>C 864622110 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135606790 135606790 A G 221625 single nucleotide variant NM_017651.4(AHI1):c.3589-5T>C 864622110 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135285652 135285652 A G 221626 single nucleotide variant NM_017651.4(AHI1):c.2961+9A>T 201870233 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135411339 135411339 T A 221626 single nucleotide variant NM_017651.4(AHI1):c.2961+9A>T 201870233 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135732477 135732477 T A 221627 insertion NM_017651.4(AHI1):c.2961+6_2961+7insGAC 780835322 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135732479 135732480 - GTC 221627 insertion NM_017651.4(AHI1):c.2961+6_2961+7insGAC 780835322 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135411341 135411342 - GTC 221628 single nucleotide variant NM_017651.4(AHI1):c.2421G>A (p.Glu807=) 864622356 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135751091 135751091 C T 221628 single nucleotide variant NM_017651.4(AHI1):c.2421G>A (p.Glu807=) 864622356 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135429953 135429953 C T 237019 single nucleotide variant NM_017651.4(AHI1):c.1152-11T>G 113317693 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399;MedGen:CN221809;MedGen:CN169374 6 135777075 135777075 A C 237019 single nucleotide variant NM_017651.4(AHI1):c.1152-11T>G 113317693 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399;MedGen:CN221809;MedGen:CN169374 6 135455937 135455937 A C 237367 single nucleotide variant NM_001134831.1(AHI1):c.-140+1G>T 145372075 MedGen:CN221809 6 135818325 135818325 C A 237367 single nucleotide variant NM_001134831.1(AHI1):c.-140+1G>T 145372075 MedGen:CN221809 6 135497187 135497187 C A 239893 indel NM_017651.4(AHI1):c.2961+6_2961+21delinsGACTTTTTTAAAGTTTTAAA 878855030 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135411327 135411342 na TTTAAAACTTTAAAAAAGTC 239893 indel NM_017651.4(AHI1):c.2961+6_2961+21delinsGACTTTTTTAAAGTTTTAAA 878855030 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135732465 135732480 na TTTAAAACTTTAAAAAAGTC 239894 single nucleotide variant NM_017651.4(AHI1):c.1693C>T (p.Arg565Cys) 763970632 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135447094 135447094 G A 239894 single nucleotide variant NM_017651.4(AHI1):c.1693C>T (p.Arg565Cys) 763970632 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135768232 135768232 G A 252116 single nucleotide variant NM_017651.4(AHI1):c.*28G>C 9494209 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399;MedGen:CN169374 6 135285617 135285617 C G 252116 single nucleotide variant NM_017651.4(AHI1):c.*28G>C 9494209 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399;MedGen:CN169374 6 135606755 135606755 C G 252117 single nucleotide variant NM_017651.4(AHI1):c.3485+43G>C 73776470 MedGen:CN169374 6 135300457 135300457 C G 252117 single nucleotide variant NM_017651.4(AHI1):c.3485+43G>C 73776470 MedGen:CN169374 6 135621595 135621595 C G 252118 single nucleotide variant NM_017651.4(AHI1):c.3485+38G>C 4896141 MedGen:CN169374 6 135300462 135300462 C G 252118 single nucleotide variant NM_017651.4(AHI1):c.3485+38G>C 4896141 MedGen:CN169374 6 135621600 135621600 C G 252119 deletion NM_017651.4(AHI1):c.3485+13_3485+15delTTC 540849894 MedGen:CN169374 6 135300485 135300487 GAA - 252119 deletion NM_017651.4(AHI1):c.3485+13_3485+15delTTC 540849894 MedGen:CN169374 6 135621623 135621625 GAA - 252120 single nucleotide variant NM_017651.4(AHI1):c.3328+17C>G 756947602 MedGen:CN169374 6 135644283 135644283 G C 252120 single nucleotide variant NM_017651.4(AHI1):c.3328+17C>G 756947602 MedGen:CN169374 6 135323145 135323145 G C 252121 single nucleotide variant NM_017651.4(AHI1):c.3165+42G>C 7772864 MedGen:CN169374 6 135679228 135679228 C G 252121 single nucleotide variant NM_017651.4(AHI1):c.3165+42G>C 7772864 MedGen:CN169374 6 135358090 135358090 C G 252122 deletion NM_017651.4(AHI1):c.3110-22_3110-19delTCAC 71725890 MedGen:CN169374 6 135358206 135358209 GTGA - 252122 deletion NM_017651.4(AHI1):c.3110-22_3110-19delTCAC 71725890 MedGen:CN169374 6 135679344 135679347 GTGA - 252123 single nucleotide variant NM_017651.4(AHI1):c.3039G>A (p.Gln1013=) 142381345 MedGen:CN169374 6 135394846 135394846 C T 252123 single nucleotide variant NM_017651.4(AHI1):c.3039G>A (p.Gln1013=) 142381345 MedGen:CN169374 6 135715984 135715984 C T 252124 single nucleotide variant NM_017651.4(AHI1):c.2962-16A>G 41287056 MedGen:CN169374 6 135404993 135404993 T C 252124 single nucleotide variant NM_017651.4(AHI1):c.2962-16A>G 41287056 MedGen:CN169374 6 135726131 135726131 T C 252125 single nucleotide variant NM_017651.4(AHI1):c.2916T>G (p.Ser972=) 140280929 MedGen:CN169374 6 135411393 135411393 A C 252125 single nucleotide variant NM_017651.4(AHI1):c.2916T>G (p.Ser972=) 140280929 MedGen:CN169374 6 135732531 135732531 A C 252126 single nucleotide variant NM_017651.4(AHI1):c.2623+33G>A 149587594 MedGen:CN169374 6 135749734 135749734 C T 252126 single nucleotide variant NM_017651.4(AHI1):c.2623+33G>A 149587594 MedGen:CN169374 6 135428596 135428596 C T 252127 duplication NM_017651.4(AHI1):c.2623+10dupT 760987188 MedGen:CN169374 6 135428619 135428619 A AA 252127 duplication NM_017651.4(AHI1):c.2623+10dupT 760987188 MedGen:CN169374 6 135749757 135749757 A AA 252128 single nucleotide variant NM_017651.4(AHI1):c.2492+15G>A 535243555 MedGen:CN169374 6 135429867 135429867 C T 252128 single nucleotide variant NM_017651.4(AHI1):c.2492+15G>A 535243555 MedGen:CN169374 6 135751005 135751005 C T 252129 single nucleotide variant NM_017651.4(AHI1):c.2490G>A (p.Arg830=) 368942099 MedGen:CN169374 6 135429884 135429884 C T 252129 single nucleotide variant NM_017651.4(AHI1):c.2490G>A (p.Arg830=) 368942099 MedGen:CN169374 6 135751022 135751022 C T 252130 single nucleotide variant NM_017651.4(AHI1):c.2382A>G (p.Lys794=) 191682790 MedGen:CN169374 6 135429992 135429992 T C 252130 single nucleotide variant NM_017651.4(AHI1):c.2382A>G (p.Lys794=) 191682790 MedGen:CN169374 6 135751130 135751130 T C 252131 deletion NM_017651.4(AHI1):c.2374-12delT 766929085 MedGen:CN169374 6 135430012 135430012 A - 252131 deletion NM_017651.4(AHI1):c.2374-12delT 766929085 MedGen:CN169374 6 135751150 135751150 A - 252132 single nucleotide variant NM_017651.4(AHI1):c.2373+18A>G 371919793 MedGen:CN169374 6 135431190 135431190 T C 252132 single nucleotide variant NM_017651.4(AHI1):c.2373+18A>G 371919793 MedGen:CN169374 6 135752328 135752328 T C 252133 single nucleotide variant NM_017651.4(AHI1):c.2299G>T (p.Val767Leu) 755688765 MedGen:CN169374 6 135431282 135431282 C A 252133 single nucleotide variant NM_017651.4(AHI1):c.2299G>T (p.Val767Leu) 755688765 MedGen:CN169374 6 135752420 135752420 C A 252134 single nucleotide variant NM_017651.4(AHI1):c.2037-7T>C 539801988 MedGen:CN169374 6 135433263 135433263 A G 252134 single nucleotide variant NM_017651.4(AHI1):c.2037-7T>C 539801988 MedGen:CN169374 6 135754401 135754401 A G 252135 single nucleotide variant NM_017651.4(AHI1):c.1780-14C>T 2757645 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399;MedGen:CN169374 6 135442728 135442728 G A 252135 single nucleotide variant NM_017651.4(AHI1):c.1780-14C>T 2757645 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399;MedGen:CN169374 6 135763866 135763866 G A 252136 single nucleotide variant NM_017651.4(AHI1):c.1780-47C>T 17053651 MedGen:CN169374 6 135442761 135442761 G A 252136 single nucleotide variant NM_017651.4(AHI1):c.1780-47C>T 17053651 MedGen:CN169374 6 135763899 135763899 G A 252137 single nucleotide variant NM_017651.4(AHI1):c.1719C>T (p.Asp573=) 886038629 MedGen:CN169374 6 135447068 135447068 G A 252137 single nucleotide variant NM_017651.4(AHI1):c.1719C>T (p.Asp573=) 886038629 MedGen:CN169374 6 135768206 135768206 G A 252138 single nucleotide variant NM_017651.4(AHI1):c.932-10A>G 114319588 MedGen:CN169374 6 135457723 135457723 T C 252138 single nucleotide variant NM_017651.4(AHI1):c.932-10A>G 114319588 MedGen:CN169374 6 135778861 135778861 T C 252139 single nucleotide variant NM_017651.4(AHI1):c.724C>T (p.Pro242Ser) 143522987 MedGen:CN169374 6 135465839 135465839 G A 252139 single nucleotide variant NM_017651.4(AHI1):c.724C>T (p.Pro242Ser) 143522987 MedGen:CN169374 6 135786977 135786977 G A 252140 single nucleotide variant NM_017651.4(AHI1):c.399G>T (p.Val133=) 886038630 MedGen:CN169374 6 135466164 135466164 C A 252140 single nucleotide variant NM_017651.4(AHI1):c.399G>T (p.Val133=) 886038630 MedGen:CN169374 6 135787302 135787302 C A 252141 single nucleotide variant NM_017651.4(AHI1):c.178A>G (p.Thr60Ala) 115502075 MedGen:CN169374 6 135467592 135467592 T C 252141 single nucleotide variant NM_017651.4(AHI1):c.178A>G (p.Thr60Ala) 115502075 MedGen:CN169374 6 135788730 135788730 T C 252142 single nucleotide variant NM_017651.4(AHI1):c.135+41G>A 368840462 MedGen:CN169374 6 135490582 135490582 C T 252142 single nucleotide variant NM_017651.4(AHI1):c.135+41G>A 368840462 MedGen:CN169374 6 135811720 135811720 C T 252143 single nucleotide variant NM_017651.4(AHI1):c.11-45T>C 146965488 MedGen:CN169374 6 135490792 135490792 A G 252143 single nucleotide variant NM_017651.4(AHI1):c.11-45T>C 146965488 MedGen:CN169374 6 135811930 135811930 A G 259835 single nucleotide variant NM_017651.4(AHI1):c.2493-2A>G 886039465 MedGen:CN221809 6 135749899 135749899 T C 259835 single nucleotide variant NM_017651.4(AHI1):c.2493-2A>G 886039465 MedGen:CN221809 6 135428761 135428761 T C 264200 deletion NM_017651.4(AHI1):c.2988delA (p.Val997Serfs) 755246809 MedGen:CN221809 6 135726089 135726089 T - 264200 deletion NM_017651.4(AHI1):c.2988delA (p.Val997Serfs) 755246809 MedGen:CN221809 6 135404951 135404951 T - 268659 single nucleotide variant NM_017651.4(AHI1):c.986G>T (p.Arg329Leu) 139944375 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399;MedGen:CN169374 6 135778797 135778797 C A 268659 single nucleotide variant NM_017651.4(AHI1):c.986G>T (p.Arg329Leu) 139944375 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399;MedGen:CN169374 6 135457659 135457659 C A 269621 single nucleotide variant NM_017651.4(AHI1):c.74A>G (p.Asp25Gly) 778792339 MedGen:CN169374 6 135811822 135811822 T C 269621 single nucleotide variant NM_017651.4(AHI1):c.74A>G (p.Asp25Gly) 778792339 MedGen:CN169374 6 135490684 135490684 T C 270917 single nucleotide variant NM_001134831.1(AHI1):c.3546G>A (p.Met1182Ile) 184236039 MedGen:CN169374 6 135611603 135611603 C T 270917 single nucleotide variant NM_001134831.1(AHI1):c.3546G>A (p.Met1182Ile) 184236039 MedGen:CN169374 6 135290465 135290465 C T 271206 single nucleotide variant NM_001134831.1(AHI1):c.2294C>T (p.Thr765Ile) 200017073 MedGen:CN169374 6 135752425 135752425 G A 271206 single nucleotide variant NM_001134831.1(AHI1):c.2294C>T (p.Thr765Ile) 200017073 MedGen:CN169374 6 135431287 135431287 G A 271426 single nucleotide variant NM_001134831.1(AHI1):c.3159A>T (p.Ala1053=) 143485622 MedGen:CN169374 6 135679276 135679276 T A 271426 single nucleotide variant NM_001134831.1(AHI1):c.3159A>T (p.Ala1053=) 143485622 MedGen:CN169374 6 135358138 135358138 T A 271428 single nucleotide variant NM_001134831.1(AHI1):c.679G>A (p.Asp227Asn) 886043592 MedGen:CN169374 6 135787022 135787022 C T 271428 single nucleotide variant NM_001134831.1(AHI1):c.679G>A (p.Asp227Asn) 886043592 MedGen:CN169374 6 135465884 135465884 C T 299169 single nucleotide variant NM_017651.4(AHI1):c.2357A>G (p.His786Arg) 886061110 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135431224 135431224 T C 299154 single nucleotide variant NM_017651.4(AHI1):c.*1317A>G 886061102 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135284328 135284328 T C 299154 single nucleotide variant NM_017651.4(AHI1):c.*1317A>G 886061102 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135605466 135605466 T C 299158 deletion NM_017651.4(AHI1):c.*1055_*1058delATTT 144339517 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135284587 135284590 AAAT - 299158 deletion NM_017651.4(AHI1):c.*1055_*1058delATTT 144339517 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135605725 135605728 AAAT - 299162 single nucleotide variant NM_017651.4(AHI1):c.*588A>G 555215397 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135285057 135285057 T C 299162 single nucleotide variant NM_017651.4(AHI1):c.*588A>G 555215397 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135606195 135606195 T C 299165 deletion NM_017651.4(AHI1):c.*500_*504delAATCC 886061105 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135285141 135285145 GGATT - 299165 deletion NM_017651.4(AHI1):c.*500_*504delAATCC 886061105 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135606279 135606283 GGATT - 299166 single nucleotide variant NM_017651.4(AHI1):c.3542G>A (p.Arg1181Gln) 200368187 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135290469 135290469 C T 299166 single nucleotide variant NM_017651.4(AHI1):c.3542G>A (p.Arg1181Gln) 200368187 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135611607 135611607 C T 299167 single nucleotide variant NM_017651.4(AHI1):c.2784A>T (p.Glu928Asp) 538724792 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135411525 135411525 T A 299167 single nucleotide variant NM_017651.4(AHI1):c.2784A>T (p.Glu928Asp) 538724792 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135732663 135732663 T A 299169 single nucleotide variant NM_017651.4(AHI1):c.2357A>G (p.His786Arg) 886061110 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135752362 135752362 T C 299170 single nucleotide variant NM_017651.4(AHI1):c.1627-6A>G 886061111 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135768304 135768304 T C 299170 single nucleotide variant NM_017651.4(AHI1):c.1627-6A>G 886061111 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135447166 135447166 T C 301559 duplication NM_017651.4(AHI1):c.*396_*397dupTG 397885237 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135606386 135606387 CA CACA 301557 single nucleotide variant NM_017651.4(AHI1):c.*1426A>T 886061101 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135284219 135284219 T A 301557 single nucleotide variant NM_017651.4(AHI1):c.*1426A>T 886061101 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135605357 135605357 T A 301558 single nucleotide variant NM_017651.4(AHI1):c.*1288T>C 886061103 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135284357 135284357 A G 301558 single nucleotide variant NM_017651.4(AHI1):c.*1288T>C 886061103 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135605495 135605495 A G 301559 duplication NM_017651.4(AHI1):c.*396_*397dupTG 397885237 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135285248 135285249 CA CACA 301560 single nucleotide variant NM_017651.4(AHI1):c.*68C>T 886061108 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135285577 135285577 G A 301560 single nucleotide variant NM_017651.4(AHI1):c.*68C>T 886061108 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135606715 135606715 G A 301562 single nucleotide variant NM_017651.4(AHI1):c.2765-9T>C 374852342 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135411553 135411553 A G 301562 single nucleotide variant NM_017651.4(AHI1):c.2765-9T>C 374852342 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135732691 135732691 A G 301563 single nucleotide variant NM_017651.4(AHI1):c.2589G>A (p.Glu863=) 147279669 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135428663 135428663 C T 301563 single nucleotide variant NM_017651.4(AHI1):c.2589G>A (p.Glu863=) 147279669 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135749801 135749801 C T 301567 single nucleotide variant NM_017651.4(AHI1):c.1904C>T (p.Pro635Leu) 371531507 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135442590 135442590 G A 301567 single nucleotide variant NM_017651.4(AHI1):c.1904C>T (p.Pro635Leu) 371531507 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135763728 135763728 G A 301569 single nucleotide variant NM_017651.4(AHI1):c.612T>G (p.Ile204Met) 781286716 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135787089 135787089 A C 301569 single nucleotide variant NM_017651.4(AHI1):c.612T>G (p.Ile204Met) 781286716 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135465951 135465951 A C 301576 single nucleotide variant NM_017651.4(AHI1):c.73G>A (p.Asp25Asn) 201590073 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135811823 135811823 C T 301576 single nucleotide variant NM_017651.4(AHI1):c.73G>A (p.Asp25Asn) 201590073 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135490685 135490685 C T 305936 deletion NM_017651.4(AHI1):c.*1119_*1121delTAT 886061104 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135284524 135284526 ATA - 305936 deletion NM_017651.4(AHI1):c.*1119_*1121delTAT 886061104 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135605662 135605664 ATA - 305939 single nucleotide variant NM_017651.4(AHI1):c.*793A>G 191324834 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135284852 135284852 T C 305939 single nucleotide variant NM_017651.4(AHI1):c.*793A>G 191324834 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135605990 135605990 T C 305941 single nucleotide variant NM_017651.4(AHI1):c.*447T>A 886061106 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135285198 135285198 A T 305941 single nucleotide variant NM_017651.4(AHI1):c.*447T>A 886061106 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135606336 135606336 A T 305942 single nucleotide variant NM_017651.4(AHI1):c.*387T>G 886061107 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135285258 135285258 A C 305942 single nucleotide variant NM_017651.4(AHI1):c.*387T>G 886061107 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135606396 135606396 A C 305954 single nucleotide variant NM_017651.4(AHI1):c.*218C>T 1052502 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135285427 135285427 G A 305954 single nucleotide variant NM_017651.4(AHI1):c.*218C>T 1052502 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135606565 135606565 G A 305955 single nucleotide variant NM_017651.4(AHI1):c.*80C>T 536580823 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135606703 135606703 G A 305955 single nucleotide variant NM_017651.4(AHI1):c.*80C>T 536580823 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135285565 135285565 G A 305965 single nucleotide variant NM_017651.4(AHI1):c.2814A>G (p.Pro938=) 775305093 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135411495 135411495 T C 305965 single nucleotide variant NM_017651.4(AHI1):c.2814A>G (p.Pro938=) 775305093 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135732633 135732633 T C 305969 single nucleotide variant NM_017651.4(AHI1):c.282G>A (p.Thr94=) 760858792 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135787419 135787419 C T 305969 single nucleotide variant NM_017651.4(AHI1):c.282G>A (p.Thr94=) 760858792 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135466281 135466281 C T 305977 single nucleotide variant NM_017651.4(AHI1):c.-129C>T 183265971 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135818733 135818733 G A 305977 single nucleotide variant NM_017651.4(AHI1):c.-129C>T 183265971 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135497595 135497595 G A 305978 single nucleotide variant NM_017651.4(AHI1):c.-284G>A 886061114 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135818888 135818888 C T 305978 single nucleotide variant NM_017651.4(AHI1):c.-284G>A 886061114 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135497750 135497750 C T 305980 single nucleotide variant NM_017651.4(AHI1):c.-286C>G 533416517 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135818890 135818890 G C 305980 single nucleotide variant NM_017651.4(AHI1):c.-286C>G 533416517 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135497752 135497752 G C 306211 single nucleotide variant NM_017651.4(AHI1):c.*1646T>C 886061100 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135283999 135283999 A G 306211 single nucleotide variant NM_017651.4(AHI1):c.*1646T>C 886061100 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135605137 135605137 A G 306213 single nucleotide variant NM_017651.4(AHI1):c.*110G>A 370861733 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135606673 135606673 C T 306213 single nucleotide variant NM_017651.4(AHI1):c.*110G>A 370861733 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135285535 135285535 C T 306214 single nucleotide variant NM_017651.4(AHI1):c.3486-4A>G 534053819 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135290529 135290529 T C 306214 single nucleotide variant NM_017651.4(AHI1):c.3486-4A>G 534053819 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135611667 135611667 T C 306217 single nucleotide variant NM_017651.4(AHI1):c.2962-3T>C 369713977 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135404980 135404980 A G 306217 single nucleotide variant NM_017651.4(AHI1):c.2962-3T>C 369713977 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135726118 135726118 A G 306228 single nucleotide variant NM_017651.4(AHI1):c.2763T>C (p.His921=) 886061109 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135427168 135427168 A G 306228 single nucleotide variant NM_017651.4(AHI1):c.2763T>C (p.His921=) 886061109 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135748306 135748306 A G 306240 single nucleotide variant NM_017651.4(AHI1):c.1911T>G (p.Ile637Met) 780336496 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135442583 135442583 A C 306240 single nucleotide variant NM_017651.4(AHI1):c.1911T>G (p.Ile637Met) 780336496 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135763721 135763721 A C 306247 single nucleotide variant NM_017651.4(AHI1):c.1788T>C (p.Arg596=) 548478362 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135763844 135763844 A G 306247 single nucleotide variant NM_017651.4(AHI1):c.1788T>C (p.Arg596=) 548478362 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135442706 135442706 A G 306248 single nucleotide variant NM_017651.4(AHI1):c.1680A>G (p.Pro560=) 200949030 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135768245 135768245 T C 306248 single nucleotide variant NM_017651.4(AHI1):c.1680A>G (p.Pro560=) 200949030 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135447107 135447107 T C 306258 single nucleotide variant NM_017651.4(AHI1):c.1311T>G (p.Ser437=) 886061112 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135776905 135776905 A C 306258 single nucleotide variant NM_017651.4(AHI1):c.1311T>G (p.Ser437=) 886061112 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135455767 135455767 A C 306283 single nucleotide variant NM_017651.4(AHI1):c.-293G>T 13197384 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135497759 135497759 C A 306262 single nucleotide variant NM_017651.4(AHI1):c.-214G>A 113052089 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135818818 135818818 C T 306262 single nucleotide variant NM_017651.4(AHI1):c.-214G>A 113052089 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135497680 135497680 C T 306281 single nucleotide variant NM_017651.4(AHI1):c.-277G>A 886061113 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135818881 135818881 C T 306281 single nucleotide variant NM_017651.4(AHI1):c.-277G>A 886061113 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135497743 135497743 C T 306283 single nucleotide variant NM_017651.4(AHI1):c.-293G>T 13197384 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399 6 135818897 135818897 C A

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 6 135623584 rs2223802 C T rs2223802 1.20E-05 Urinary metabolites HPOID:0000079 DOID:557 T intron GWASdb_trait 6 135646692 rs4896144 T C rs4896144 1.70E-05 Urinary metabolites HPOID:0000079 DOID:557 C intron GWASdb_trait 6 135710694 rs2614264 G A rs2614264 7.10E-05 Immunoglobulin A HPOID:0010701 DOID:11701 G intron GWASdb_trait 6 135710694 rs2614264 G A rs2614264 1.54E-04 Arthritis (juvenile idiopathic) HPOID:0005681 DOID:676 G intron GWASdb_trait 6 135721285 rs13208164 G A rs13208164 4.91E-05 Hodgkin's lymphoma HPOID:0012189 DOID:8567 G intron GWASdb_trait 6 135739355 rs11154801 C A rs11154801 6.23E-06 Schizophrenia HPOID:0100753 DOID:5419 C intron GWASdb_trait 6 135739355 rs11154801 C A rs11154801 1.00E-13 Multiple sclerosis HPOID:0000096|HPOID:0001967|HPOID:0009741|HPOID:0008664|HPOID:0001150|HPOID:0005450|HPOID:0005652|HPOID:0005686|HPOID:0005789|HPOID:0100923|HPOID:0100925|HPOID:0006623|HPOID:0100861|HPOID:0002694|HPOID:0004979|HPOID:0003881|HPOID:0003991|HPOID:0003854|HPOID:0003933|HPOID:0004030|HPOID:0100899|HPOID:0002634 DOID:2377 C intron GWASdb_trait 6 135744127 rs2614280 C T rs2614280 1.60E-05 Urinary metabolites HPOID:0000079 DOID:557 G intron GWASdb_trait 6 135746884 rs7759971 C T rs7759971 6.23E-06 Schizophrenia HPOID:0100753 DOID:5419 C intron GWASdb_trait 6 135757022 rs1535435 A G rs1535435 1.00E-06 Type 2 diabetes HPOID:0005978 DOID:9352 A intron GWASdb_trait 6 135783742 rs1977239 A T rs1977239 3.04E-04 Type 2 diabetes HPOID:0005978 DOID:9352 T intron GWASdb_trait 6 135809811 rs7769298 T C rs7769298 7.10E-06 Urinary metabolites HPOID:0000079 DOID:557 C intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000135541.20 AHI1 608894