Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 16743 duplication NM_000124.3(ERCC6):c.972dupA (p.Glu325Argfs) 387906262 MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322 10 50732504 50732504 T TT 16739 single nucleotide variant NM_000124.3(ERCC6):c.1550G>A (p.Trp517Ter) 121917900 MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322 10 50708719 50708719 C T 16739 single nucleotide variant NM_000124.3(ERCC6):c.1550G>A (p.Trp517Ter) 121917900 MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322 10 49500673 49500673 C T 16740 single nucleotide variant NM_000124.3(ERCC6):c.2203C>T (p.Arg735Ter) 121917901 MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322;MedGen:C0265201,OMIM:278800,SNOMED CT:C0265201;MedGen:CN239385 10 50686483 50686483 G A 16740 single nucleotide variant NM_000124.3(ERCC6):c.2203C>T (p.Arg735Ter) 121917901 MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322;MedGen:C0265201,OMIM:278800,SNOMED CT:C0265201;MedGen:CN239385 10 49478437 49478437 G A 16741 deletion ERCC6, 1-BP DEL, 1597G -1 MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322 na -1 -1 na na 16742 single nucleotide variant NM_000124.3(ERCC6):c.1357C>T (p.Arg453Ter) 121917902 MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322 10 50732119 50732119 G A 16742 single nucleotide variant NM_000124.3(ERCC6):c.1357C>T (p.Arg453Ter) 121917902 MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322 10 49524073 49524073 G A 16743 duplication NM_000124.3(ERCC6):c.972dupA (p.Glu325Argfs) 387906262 MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322 10 49524458 49524458 T TT 16744 insertion ERCC6, 4-BP INS, 1053TGTC -1 MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322 na -1 -1 na na 16745 deletion ERCC6, 2-BP DEL, 3794AA -1 MedGen:C0220722,OMIM:214150,SNOMED CT:C0220722 na -1 -1 na na 16746 single nucleotide variant NM_000124.3(ERCC6):c.3284C>G (p.Pro1095Arg) 4253208 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322;Human Phenotype Ontology:HP:0000608,MedGen:C1849131;MedGen:CN221809;MedGen:CN169374 10 50678722 50678722 G C 16746 single nucleotide variant NM_000124.3(ERCC6):c.3284C>G (p.Pro1095Arg) 4253208 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322;Human Phenotype Ontology:HP:0000608,MedGen:C1849131;MedGen:CN221809;MedGen:CN169374 10 49470676 49470676 G C 16747 single nucleotide variant NM_000124.3(ERCC6):c.229C>T (p.Arg77Ter) 121917903 MedGen:C1833561,OMIM:600630 10 50740782 50740782 G A 16747 single nucleotide variant NM_000124.3(ERCC6):c.229C>T (p.Arg77Ter) 121917903 MedGen:C1833561,OMIM:600630 10 49532736 49532736 G A 16748 single nucleotide variant NM_000124.3(ERCC6):c.-546C>G 3793784 MedGen:C3151063,OMIM:613761 10 50747539 50747539 G C 16748 single nucleotide variant NM_000124.3(ERCC6):c.-546C>G 3793784 MedGen:C3151063,OMIM:613761 10 49539493 49539493 G C 16749 insertion ERCC6, 1-BP INS, 1034T -1 MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322 na -1 -1 na na 16750 single nucleotide variant NM_000124.3(ERCC6):c.2047C>T (p.Arg683Ter) 121917904 MedGen:C0220722,OMIM:214150,SNOMED CT:C0220722;MedGen:CN239385 10 50690855 50690855 G A 16750 single nucleotide variant NM_000124.3(ERCC6):c.2047C>T (p.Arg683Ter) 121917904 MedGen:C0220722,OMIM:214150,SNOMED CT:C0220722;MedGen:CN239385 10 49482809 49482809 G A 16751 single nucleotide variant NM_000124.3(ERCC6):c.2960T>C (p.Leu987Pro) 121917905 MedGen:C0220722,OMIM:214150,SNOMED CT:C0220722 10 50679131 50679131 A G 16751 single nucleotide variant NM_000124.3(ERCC6):c.2960T>C (p.Leu987Pro) 121917905 MedGen:C0220722,OMIM:214150,SNOMED CT:C0220722 10 49471085 49471085 A G 16752 single nucleotide variant ERCC6, 2254A-G -1 MedGen:C0220722,OMIM:214150,SNOMED CT:C0220722 na -1 -1 na na 40257 single nucleotide variant NM_000124.3(ERCC6):c.3862C>T (p.Arg1288Ter) 185142838 MedGen:C0220722,OMIM:214150,SNOMED CT:C0220722 10 50669519 50669519 G A 40257 single nucleotide variant NM_000124.3(ERCC6):c.3862C>T (p.Arg1288Ter) 185142838 MedGen:C0220722,OMIM:214150,SNOMED CT:C0220722 10 49461473 49461473 G A 134459 single nucleotide variant NM_000124.3(ERCC6):c.1196G>A (p.Gly399Asp) 2228528 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131;MedGen:CN169374 10 49524234 49524234 C T 134459 single nucleotide variant NM_000124.3(ERCC6):c.1196G>A (p.Gly399Asp) 2228528 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131;MedGen:CN169374 10 50732280 50732280 C T 134460 single nucleotide variant NM_000124.3(ERCC6):c.135C>G (p.Leu45=) 2228524 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131;MedGen:CN169374 10 49532830 49532830 G C 134460 single nucleotide variant NM_000124.3(ERCC6):c.135C>G (p.Leu45=) 2228524 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131;MedGen:CN169374 10 50740876 50740876 G C 134461 single nucleotide variant NM_000124.3(ERCC6):c.2751C>T (p.Gly917=) 2229760 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131;MedGen:CN169374 10 49472987 49472987 G A 134461 single nucleotide variant NM_000124.3(ERCC6):c.2751C>T (p.Gly917=) 2229760 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131;MedGen:CN169374 10 50681033 50681033 G A 134462 single nucleotide variant NM_000124.3(ERCC6):c.3289A>G (p.Met1097Val) 2228526 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131;MedGen:CN169374 10 49470671 49470671 T C 134462 single nucleotide variant NM_000124.3(ERCC6):c.3289A>G (p.Met1097Val) 2228526 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131;MedGen:CN169374 10 50678717 50678717 T C 134463 single nucleotide variant NM_000124.3(ERCC6):c.3637A>G (p.Arg1213Gly) 2228527 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131;MedGen:CN169374 10 49470323 49470323 T C 134463 single nucleotide variant NM_000124.3(ERCC6):c.3637A>G (p.Arg1213Gly) 2228527 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131;MedGen:CN169374 10 50678369 50678369 T C 134464 single nucleotide variant NM_000124.3(ERCC6):c.3689G>C (p.Arg1230Pro) 4253211 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131;MedGen:CN169374 10 49470271 49470271 C G 134464 single nucleotide variant NM_000124.3(ERCC6):c.3689G>C (p.Arg1230Pro) 4253211 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131;MedGen:CN169374 10 50678317 50678317 C G 134465 single nucleotide variant NM_000124.3(ERCC6):c.411G>A (p.Leu137=) 4253013 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131;MedGen:CN169374 10 49532554 49532554 C T 134465 single nucleotide variant NM_000124.3(ERCC6):c.411G>A (p.Leu137=) 4253013 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131;MedGen:CN169374 10 50740600 50740600 C T 134466 single nucleotide variant NM_000124.3(ERCC6):c.4238A>G (p.Gln1413Arg) 2228529 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131;MedGen:CN169374 10 49459059 49459059 T C 134466 single nucleotide variant NM_000124.3(ERCC6):c.4238A>G (p.Gln1413Arg) 2228529 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131;MedGen:CN169374 10 50667105 50667105 T C 152904 deletion NM_000124.3(ERCC6):c.543+4delA 527236039 MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322 10 50738762 50738762 T - 152904 deletion NM_000124.3(ERCC6):c.543+4delA 527236039 MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322 10 49530716 49530716 T - 187986 single nucleotide variant NM_000124.3(ERCC6):c.4186A>G (p.Arg1396Gly) 745352643 MedGen:CN169374 10 49459111 49459111 T C 187986 single nucleotide variant NM_000124.3(ERCC6):c.4186A>G (p.Arg1396Gly) 745352643 MedGen:CN169374 10 50667157 50667157 T C 187987 deletion NM_000124.3(ERCC6):c.4007delA (p.Asn1336Ilefs) 786205175 MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322 10 50668474 50668474 T - 187987 deletion NM_000124.3(ERCC6):c.4007delA (p.Asn1336Ilefs) 786205175 MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322 10 49460428 49460428 T - 187988 deletion NM_000124.3(ERCC6):c.3952_3953delAG (p.Arg1318Glyfs) 765825423 MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322 10 50669428 50669429 CT - 187988 deletion NM_000124.3(ERCC6):c.3952_3953delAG (p.Arg1318Glyfs) 765825423 MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322 10 49461382 49461383 CT - 187989 single nucleotide variant NM_000124.3(ERCC6):c.3904C>T (p.Gln1302Ter) 786205174 MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322 10 49461431 49461431 G A 187989 single nucleotide variant NM_000124.3(ERCC6):c.3904C>T (p.Gln1302Ter) 786205174 MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322 10 50669477 50669477 G A 187990 insertion NM_000124.3(ERCC6):c.3612_3613insT (p.Lys1205Terfs) 786205173 MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322 10 49470347 49470348 - A 187990 insertion NM_000124.3(ERCC6):c.3612_3613insT (p.Lys1205Terfs) 786205173 MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322 10 50678393 50678394 - A 187991 insertion NM_000124.3(ERCC6):c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA (p.Lys1203Argfs) 786205172 MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322 10 50678398 50678399 - TAAGGTGGACCTTAAGCAGCCAGCCC 187991 insertion NM_000124.3(ERCC6):c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA (p.Lys1203Argfs) 786205172 MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322 10 49470352 49470353 - TAAGGTGGACCTTAAGCAGCCAGCCC 187992 deletion NM_000124.3(ERCC6):c.3536delA (p.Tyr1179Leufs) 786205171 MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322;MedGen:CN221809 10 49470424 49470424 T - 187992 deletion NM_000124.3(ERCC6):c.3536delA (p.Tyr1179Leufs) 786205171 MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322;MedGen:CN221809 10 50678470 50678470 T - 187993 duplication NM_000124.3(ERCC6):c.3412dupA (p.Thr1138Asnfs) 786205170 MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322 10 50678594 50678594 T TT 187993 duplication NM_000124.3(ERCC6):c.3412dupA (p.Thr1138Asnfs) 786205170 MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322 10 49470548 49470548 T TT 187994 single nucleotide variant NM_000124.3(ERCC6):c.3177T>C (p.Ser1059=) 4253207 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131;MedGen:CN169374 10 50678829 50678829 A G 187994 single nucleotide variant NM_000124.3(ERCC6):c.3177T>C (p.Ser1059=) 4253207 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131;MedGen:CN169374 10 49470783 49470783 A G 187995 single nucleotide variant NM_000124.3(ERCC6):c.3122A>C (p.Gln1041Pro) 139007661 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131;MedGen:CN169374 10 49470838 49470838 T G 187995 single nucleotide variant NM_000124.3(ERCC6):c.3122A>C (p.Gln1041Pro) 139007661 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131;MedGen:CN169374 10 50678884 50678884 T G 187996 single nucleotide variant NM_000124.3(ERCC6):c.2830-2A>G 373227647 MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322;MedGen:CN221809 10 50680518 50680518 T C 187996 single nucleotide variant NM_000124.3(ERCC6):c.2830-2A>G 373227647 MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322;MedGen:CN221809 10 49472472 49472472 T C 187997 single nucleotide variant NM_000124.3(ERCC6):c.2599-26A>G 4253196 MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322 10 49473613 49473613 T C 187997 single nucleotide variant NM_000124.3(ERCC6):c.2599-26A>G 4253196 MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322 10 50681659 50681659 T C 187998 single nucleotide variant NM_000124.3(ERCC6):c.2418C>G (p.Cys806Trp) 375810438 MedGen:CN169374 10 50682253 50682253 G C 187998 single nucleotide variant NM_000124.3(ERCC6):c.2418C>G (p.Cys806Trp) 375810438 MedGen:CN169374 10 49474207 49474207 G C 187999 single nucleotide variant NM_000124.3(ERCC6):c.2167C>T (p.Gln723Ter) 151242354 MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322;MedGen:CN221809 10 50690735 50690735 G A 187999 single nucleotide variant NM_000124.3(ERCC6):c.2167C>T (p.Gln723Ter) 151242354 MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322;MedGen:CN221809 10 49482689 49482689 G A 188000 duplication NM_000124.3(ERCC6):c.2096dupC (p.Leu700Valfs) 774791374 MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322 10 49482760 49482760 G GG 188000 duplication NM_000124.3(ERCC6):c.2096dupC (p.Leu700Valfs) 774791374 MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322 10 50690806 50690806 G GG 188001 single nucleotide variant NM_000124.3(ERCC6):c.2008C>T (p.Arg670Trp) 202080674 MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322 10 50690894 50690894 G A 188001 single nucleotide variant NM_000124.3(ERCC6):c.2008C>T (p.Arg670Trp) 202080674 MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322 10 49482848 49482848 G A 188002 deletion NM_000124.3(ERCC6):c.1999delA (p.Thr667Profs) 786205169 MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322 10 50690903 50690903 T - 188002 deletion NM_000124.3(ERCC6):c.1999delA (p.Thr667Profs) 786205169 MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322 10 49482857 49482857 T - 188003 single nucleotide variant NM_000124.3(ERCC6):c.1996C>T (p.Arg666Cys) 61760163 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131;MedGen:CN169374 10 49482860 49482860 G A 188003 single nucleotide variant NM_000124.3(ERCC6):c.1996C>T (p.Arg666Cys) 61760163 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131;MedGen:CN169374 10 50690906 50690906 G A 188004 single nucleotide variant NM_000124.3(ERCC6):c.1954C>T (p.Arg652Ter) 767247987 MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322 10 50691430 50691430 G A 188004 single nucleotide variant NM_000124.3(ERCC6):c.1954C>T (p.Arg652Ter) 767247987 MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322 10 49483384 49483384 G A 188005 duplication NM_000124.3(ERCC6):c.1850dupG (p.Cys617Trpfs) 786205167 MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322 10 49483488 49483488 C CC 188005 duplication NM_000124.3(ERCC6):c.1850dupG (p.Cys617Trpfs) 786205167 MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322 10 50691534 50691534 C CC 188006 single nucleotide variant NM_000124.3(ERCC6):c.1835G>A (p.Arg612Gln) 201894064 MedGen:CN169374 10 49483503 49483503 C T 188006 single nucleotide variant NM_000124.3(ERCC6):c.1835G>A (p.Arg612Gln) 201894064 MedGen:CN169374 10 50691549 50691549 C T 188007 single nucleotide variant NM_000124.3(ERCC6):c.1821+7C>T 4253132 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131;MedGen:CN169374 10 50701156 50701156 G A 188007 single nucleotide variant NM_000124.3(ERCC6):c.1821+7C>T 4253132 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131;MedGen:CN169374 10 49493110 49493110 G A 188008 single nucleotide variant NM_000124.3(ERCC6):c.1659G>T (p.Lys553Asn) 116373975 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131;MedGen:CN169374 10 50708610 50708610 C A 188008 single nucleotide variant NM_000124.3(ERCC6):c.1659G>T (p.Lys553Asn) 116373975 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131;MedGen:CN169374 10 49500564 49500564 C A 188009 single nucleotide variant NM_000124.3(ERCC6):c.1526+1G>T 371739894 MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322 10 50713929 50713929 C A 188009 single nucleotide variant NM_000124.3(ERCC6):c.1526+1G>T 371739894 MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322 10 49505883 49505883 C A 188010 deletion NM_000124.3(ERCC6):c.1518delG (p.Lys506Asnfs) 786205168 MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322 10 50713938 50713938 C - 188010 deletion NM_000124.3(ERCC6):c.1518delG (p.Lys506Asnfs) 786205168 MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322 10 49505892 49505892 C - 188011 duplication NM_000124.3(ERCC6):c.1280dupT (p.Ser429Lysfs) 786205166 MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322 10 49524150 49524150 A AA 188011 duplication NM_000124.3(ERCC6):c.1280dupT (p.Ser429Lysfs) 786205166 MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322 10 50732196 50732196 A AA 188012 single nucleotide variant NM_000124.3(ERCC6):c.670C>T (p.Leu224Phe) 150935953 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131;MedGen:CN169374 10 50732806 50732806 G A 188012 single nucleotide variant NM_000124.3(ERCC6):c.670C>T (p.Leu224Phe) 150935953 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131;MedGen:CN169374 10 49524760 49524760 G A 188013 single nucleotide variant NM_000124.3(ERCC6):c.150G>A (p.Val50=) 80133923 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131;MedGen:CN169374 10 50740861 50740861 C T 188013 single nucleotide variant NM_000124.3(ERCC6):c.150G>A (p.Val50=) 80133923 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131;MedGen:CN169374 10 49532815 49532815 C T 188042 deletion NM_000124.3(ERCC6):c.1684_1705del -1 MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322 na -1 -1 na na 190720 single nucleotide variant NM_000124.3(ERCC6):c.2048G>A (p.Arg683Gln) 148845653 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131;MedGen:CN169374 10 50690854 50690854 C T 190720 single nucleotide variant NM_000124.3(ERCC6):c.2048G>A (p.Arg683Gln) 148845653 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131;MedGen:CN169374 10 49482808 49482808 C T 191315 single nucleotide variant NM_000124.3(ERCC6):c.2403C>T (p.Ala801=) 114896216 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131;MedGen:CN169374 10 50682268 50682268 G A 191315 single nucleotide variant NM_000124.3(ERCC6):c.2403C>T (p.Ala801=) 114896216 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131;MedGen:CN169374 10 49474222 49474222 G A 191753 single nucleotide variant NM_000124.3(ERCC6):c.2924G>A (p.Arg975Gln) 145720191 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131;MedGen:CN169374 10 50680422 50680422 C T 191753 single nucleotide variant NM_000124.3(ERCC6):c.2924G>A (p.Arg975Gln) 145720191 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131;MedGen:CN169374 10 49472376 49472376 C T 191858 single nucleotide variant NM_000124.3(ERCC6):c.3061A>G (p.Ile1021Val) 41562713 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131;MedGen:CN169374 10 50679030 50679030 T C 191858 single nucleotide variant NM_000124.3(ERCC6):c.3061A>G (p.Ile1021Val) 41562713 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131;MedGen:CN169374 10 49470984 49470984 T C 191859 single nucleotide variant NM_000124.3(ERCC6):c.3010C>T (p.Leu1004=) 2274097 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131;MedGen:CN169374 10 50679081 50679081 G A 191859 single nucleotide variant NM_000124.3(ERCC6):c.3010C>T (p.Leu1004=) 2274097 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131;MedGen:CN169374 10 49471035 49471035 G A 192716 single nucleotide variant NM_000124.3(ERCC6):c.4066G>A (p.Gly1356Ser) 574272317 MedGen:CN169374 10 50667277 50667277 C T 192716 single nucleotide variant NM_000124.3(ERCC6):c.4066G>A (p.Gly1356Ser) 574272317 MedGen:CN169374 10 49459231 49459231 C T 193374 single nucleotide variant NM_000124.3(ERCC6):c.528A>G (p.Arg176=) 4253027 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131;MedGen:CN169374 10 50738781 50738781 T C 193374 single nucleotide variant NM_000124.3(ERCC6):c.528A>G (p.Arg176=) 4253027 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131;MedGen:CN169374 10 49530735 49530735 T C 207742 single nucleotide variant NM_000124.3(ERCC6):c.2551T>C (p.Trp851Arg) 368728467 MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322 10 50682120 50682120 A G 207742 single nucleotide variant NM_000124.3(ERCC6):c.2551T>C (p.Trp851Arg) 368728467 MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322 10 49474074 49474074 A G 207743 insertion NM_000124.3(ERCC6):c.850_851insT (p.Glu284Valfs) 797045562 MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322 10 50732625 50732626 - A 207743 insertion NM_000124.3(ERCC6):c.850_851insT (p.Glu284Valfs) 797045562 MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322 10 49524579 49524580 - A 209352 single nucleotide variant NM_000124.3(ERCC6):c.466C>T (p.Gln156Ter) 751838040 MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322;MedGen:CN221809 10 49530797 49530797 G A 209352 single nucleotide variant NM_000124.3(ERCC6):c.466C>T (p.Gln156Ter) 751838040 MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322;MedGen:CN221809 10 50738843 50738843 G A 227715 single nucleotide variant NM_001277059.1(ERCC6):c.2237G>A (p.Gly746Asp) 878854403 MedGen:CN236436,OMIM:616946 10 50724328 50724328 C T 227715 single nucleotide variant NM_001277059.1(ERCC6):c.2237G>A (p.Gly746Asp) 878854403 MedGen:CN236436,OMIM:616946 10 49516282 49516282 C T 227716 single nucleotide variant NM_000124.3(ERCC6):c.643G>T (p.Glu215Ter) 875989810 MedGen:CN236436,OMIM:616946 10 50736472 50736472 C A 227716 single nucleotide variant NM_000124.3(ERCC6):c.643G>T (p.Glu215Ter) 875989810 MedGen:CN236436,OMIM:616946 10 49528426 49528426 C A 237169 single nucleotide variant NM_000124.3(ERCC6):c.3643G>A (p.Ala1215Thr) 377041857 MedGen:CN221809;MedGen:CN169374 10 50678363 50678363 C T 237169 single nucleotide variant NM_000124.3(ERCC6):c.3643G>A (p.Ala1215Thr) 377041857 MedGen:CN221809;MedGen:CN169374 10 49470317 49470317 C T 237243 single nucleotide variant NM_000124.3(ERCC6):c.2297G>T (p.Cys766Phe) 878853067 MedGen:CN221809 10 50684346 50684346 C A 237243 single nucleotide variant NM_000124.3(ERCC6):c.2297G>T (p.Cys766Phe) 878853067 MedGen:CN221809 10 49476300 49476300 C A 237323 single nucleotide variant NM_000124.3(ERCC6):c.1337G>A (p.Gly446Asp) 4253047 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131;MedGen:CN221809;MedGen:CN169374 10 50732139 50732139 C T 237323 single nucleotide variant NM_000124.3(ERCC6):c.1337G>A (p.Gly446Asp) 4253047 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131;MedGen:CN221809;MedGen:CN169374 10 49524093 49524093 C T 247041 single nucleotide variant NM_000124.3(ERCC6):c.400C>T (p.Arg134Trp) 148095899 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131;MedGen:CN169374 10 50740611 50740611 G A 247041 single nucleotide variant NM_000124.3(ERCC6):c.400C>T (p.Arg134Trp) 148095899 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131;MedGen:CN169374 10 49532565 49532565 G A 253769 single nucleotide variant NM_000124.3(ERCC6):c.4065T>G (p.Asp1355Glu) 34917815 MedGen:CN169374 10 49459232 49459232 A C 253769 single nucleotide variant NM_000124.3(ERCC6):c.4065T>G (p.Asp1355Glu) 34917815 MedGen:CN169374 10 50667278 50667278 A C 253770 single nucleotide variant NM_000124.3(ERCC6):c.3778+16C>T 4253212 MedGen:CN169374 10 50678212 50678212 G A 253770 single nucleotide variant NM_000124.3(ERCC6):c.3778+16C>T 4253212 MedGen:CN169374 10 49470166 49470166 G A 253771 single nucleotide variant NM_000124.3(ERCC6):c.2825C>T (p.Thr942Met) 2228525 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131;MedGen:CN169374 10 49472913 49472913 G A 253771 single nucleotide variant NM_000124.3(ERCC6):c.2825C>T (p.Thr942Met) 2228525 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131;MedGen:CN169374 10 50680959 50680959 G A 253772 single nucleotide variant NM_000124.3(ERCC6):c.2170-38C>T 11101139 MedGen:CN169374 10 49478508 49478508 G A 253772 single nucleotide variant NM_000124.3(ERCC6):c.2170-38C>T 11101139 MedGen:CN169374 10 50686554 50686554 G A 253773 single nucleotide variant NM_000124.3(ERCC6):c.1992+32A>G 4253162 MedGen:CN169374 10 50691360 50691360 T C 253773 single nucleotide variant NM_000124.3(ERCC6):c.1992+32A>G 4253162 MedGen:CN169374 10 49483314 49483314 T C 267792 single nucleotide variant NM_000124.3(ERCC6):c.3634T>A (p.Cys1212Ser) 886042655 MedGen:CN169374 10 50678372 50678372 A T 267792 single nucleotide variant NM_000124.3(ERCC6):c.3634T>A (p.Cys1212Ser) 886042655 MedGen:CN169374 10 49470326 49470326 A T 268776 single nucleotide variant NM_000124.3(ERCC6):c.1452C>T (p.Asp484=) 762734699 MedGen:CN169374 10 49505958 49505958 G A 268776 single nucleotide variant NM_000124.3(ERCC6):c.1452C>T (p.Asp484=) 762734699 MedGen:CN169374 10 50714004 50714004 G A 268825 single nucleotide variant NM_000124.3(ERCC6):c.2479C>T (p.Leu827=) 115875661 MedGen:CN169374 10 50682192 50682192 G A 268825 single nucleotide variant NM_000124.3(ERCC6):c.2479C>T (p.Leu827=) 115875661 MedGen:CN169374 10 49474146 49474146 G A 268826 single nucleotide variant NM_000124.3(ERCC6):c.2124C>T (p.Ser708=) 114832108 MedGen:CN169374 10 50690778 50690778 G A 268826 single nucleotide variant NM_000124.3(ERCC6):c.2124C>T (p.Ser708=) 114832108 MedGen:CN169374 10 49482732 49482732 G A 268871 single nucleotide variant NM_000124.3(ERCC6):c.4143C>T (p.Ser1381=) 375921453 MedGen:CN169374 10 50667200 50667200 G A 268871 single nucleotide variant NM_000124.3(ERCC6):c.4143C>T (p.Ser1381=) 375921453 MedGen:CN169374 10 49459154 49459154 G A 270079 single nucleotide variant NM_000124.3(ERCC6):c.813C>T (p.Phe271=) 764319566 MedGen:CN169374 10 50732663 50732663 G A 270079 single nucleotide variant NM_000124.3(ERCC6):c.813C>T (p.Phe271=) 764319566 MedGen:CN169374 10 49524617 49524617 G A 271258 single nucleotide variant NM_000124.3(ERCC6):c.1888T>C (p.Leu630=) 747204355 MedGen:CN169374 10 50691496 50691496 A G 271258 single nucleotide variant NM_000124.3(ERCC6):c.1888T>C (p.Leu630=) 747204355 MedGen:CN169374 10 49483450 49483450 A G 271456 single nucleotide variant NM_000124.3(ERCC6):c.2096C>T (p.Thr699Met) 55698015 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131;MedGen:CN169374 10 50690806 50690806 G A 271456 single nucleotide variant NM_000124.3(ERCC6):c.2096C>T (p.Thr699Met) 55698015 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131;MedGen:CN169374 10 49482760 49482760 G A 271470 single nucleotide variant NM_000124.3(ERCC6):c.1340G>A (p.Arg447Gln) 750935710 MedGen:CN169374 10 50732136 50732136 C T 271470 single nucleotide variant NM_000124.3(ERCC6):c.1340G>A (p.Arg447Gln) 750935710 MedGen:CN169374 10 49524090 49524090 C T 271594 single nucleotide variant NM_000124.3(ERCC6):c.3745G>A (p.Asp1249Asn) 114234514 MedGen:CN169374 10 50678261 50678261 C T 271594 single nucleotide variant NM_000124.3(ERCC6):c.3745G>A (p.Asp1249Asn) 114234514 MedGen:CN169374 10 49470215 49470215 C T 272271 single nucleotide variant NM_000124.3(ERCC6):c.3581A>G (p.Glu1194Gly) 114479292 MedGen:CN169374 10 50678425 50678425 T C 272271 single nucleotide variant NM_000124.3(ERCC6):c.3581A>G (p.Glu1194Gly) 114479292 MedGen:CN169374 10 49470379 49470379 T C 273204 single nucleotide variant NM_000124.3(ERCC6):c.3650T>G (p.Phe1217Cys) 61760166 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131;MedGen:CN169374 10 50678356 50678356 A C 273204 single nucleotide variant NM_000124.3(ERCC6):c.3650T>G (p.Phe1217Cys) 61760166 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131;MedGen:CN169374 10 49470310 49470310 A C 310384 single nucleotide variant NM_000124.3(ERCC6):c.*2337A>C 557944846 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49456478 49456478 T G 310384 single nucleotide variant NM_000124.3(ERCC6):c.*2337A>C 557944846 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50664524 50664524 T G 310391 single nucleotide variant NM_000124.3(ERCC6):c.*1327G>A 117289374 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49457488 49457488 C T 310391 single nucleotide variant NM_000124.3(ERCC6):c.*1327G>A 117289374 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50665534 50665534 C T 310392 single nucleotide variant NM_000124.3(ERCC6):c.*1314G>A 542053472 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49457501 49457501 C T 310392 single nucleotide variant NM_000124.3(ERCC6):c.*1314G>A 542053472 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50665547 50665547 C T 310393 single nucleotide variant NM_000124.3(ERCC6):c.*681G>A 547014227 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49458134 49458134 C T 310393 single nucleotide variant NM_000124.3(ERCC6):c.*681G>A 547014227 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50666180 50666180 C T 310398 single nucleotide variant NM_000124.3(ERCC6):c.*645G>C 886047026 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49458170 49458170 C G 310398 single nucleotide variant NM_000124.3(ERCC6):c.*645G>C 886047026 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50666216 50666216 C G 310405 single nucleotide variant NM_000124.3(ERCC6):c.*379C>G 4253234 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49458436 49458436 G C 310405 single nucleotide variant NM_000124.3(ERCC6):c.*379C>G 4253234 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50666482 50666482 G C 310409 single nucleotide variant NM_000124.3(ERCC6):c.*341A>G 886047030 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49458474 49458474 T C 310409 single nucleotide variant NM_000124.3(ERCC6):c.*341A>G 886047030 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50666520 50666520 T C 310411 single nucleotide variant NM_000124.3(ERCC6):c.*118A>C 4253233 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49458697 49458697 T G 310411 single nucleotide variant NM_000124.3(ERCC6):c.*118A>C 4253233 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50666743 50666743 T G 310413 deletion NM_000124.3(ERCC6):c.4438_4440delTCT (p.Ser1480del) 886047032 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49458857 49458859 AGA - 310413 deletion NM_000124.3(ERCC6):c.4438_4440delTCT (p.Ser1480del) 886047032 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50666903 50666905 AGA - 310414 single nucleotide variant NM_000124.3(ERCC6):c.3922G>C (p.Val1308Leu) 2229761 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50669459 50669459 C G 310414 single nucleotide variant NM_000124.3(ERCC6):c.3922G>C (p.Val1308Leu) 2229761 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49461413 49461413 C G 310417 single nucleotide variant NM_000124.3(ERCC6):c.3636C>T (p.Cys1212=) 886047033 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49470324 49470324 G A 310417 single nucleotide variant NM_000124.3(ERCC6):c.3636C>T (p.Cys1212=) 886047033 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50678370 50678370 G A 310422 single nucleotide variant NM_000124.3(ERCC6):c.3453A>G (p.Leu1151=) 771604820 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49470507 49470507 T C 310422 single nucleotide variant NM_000124.3(ERCC6):c.3453A>G (p.Leu1151=) 771604820 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50678553 50678553 T C 310424 single nucleotide variant NM_000124.3(ERCC6):c.3391A>G (p.Asn1131Asp) 147079519 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49470569 49470569 T C 310424 single nucleotide variant NM_000124.3(ERCC6):c.3391A>G (p.Asn1131Asp) 147079519 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50678615 50678615 T C 310428 single nucleotide variant NM_000124.3(ERCC6):c.2996A>G (p.Asn999Ser) 760694729 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49471049 49471049 T C 310428 single nucleotide variant NM_000124.3(ERCC6):c.2996A>G (p.Asn999Ser) 760694729 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50679095 50679095 T C 310434 single nucleotide variant NM_000124.3(ERCC6):c.2905G>A (p.Glu969Lys) 886047035 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49472395 49472395 C T 310434 single nucleotide variant NM_000124.3(ERCC6):c.2905G>A (p.Glu969Lys) 886047035 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50680441 50680441 C T 310435 single nucleotide variant NM_000124.3(ERCC6):c.2829+11A>T 777251839 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49472898 49472898 T A 310435 single nucleotide variant NM_000124.3(ERCC6):c.2829+11A>T 777251839 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50680944 50680944 T A 310437 single nucleotide variant NM_000124.3(ERCC6):c.2287-3T>C 780652533 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49476313 49476313 A G 310437 single nucleotide variant NM_000124.3(ERCC6):c.2287-3T>C 780652533 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50684359 50684359 A G 310439 single nucleotide variant NM_000124.3(ERCC6):c.2287-4G>A 375617750 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49476314 49476314 C T 310439 single nucleotide variant NM_000124.3(ERCC6):c.2287-4G>A 375617750 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50684360 50684360 C T 310447 single nucleotide variant NM_000124.3(ERCC6):c.1482C>T (p.Asp494=) 150762517 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49505928 49505928 G A 310447 single nucleotide variant NM_000124.3(ERCC6):c.1482C>T (p.Asp494=) 150762517 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50713974 50713974 G A 310450 single nucleotide variant NM_000124.3(ERCC6):c.1435C>T (p.Arg479Cys) 61749175 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49505975 49505975 G A 310450 single nucleotide variant NM_000124.3(ERCC6):c.1435C>T (p.Arg479Cys) 61749175 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50714021 50714021 G A 310452 single nucleotide variant NM_000124.3(ERCC6):c.1280T>C (p.Phe427Ser) 886047038 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49524150 49524150 A G 310452 single nucleotide variant NM_000124.3(ERCC6):c.1280T>C (p.Phe427Ser) 886047038 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50732196 50732196 A G 310456 single nucleotide variant NM_000124.3(ERCC6):c.1229G>A (p.Gly410Asp) 138865542 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49524201 49524201 C T 310456 single nucleotide variant NM_000124.3(ERCC6):c.1229G>A (p.Gly410Asp) 138865542 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50732247 50732247 C T 310457 single nucleotide variant NM_000124.3(ERCC6):c.1159G>A (p.Glu387Lys) 148295935 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49524271 49524271 C T 310457 single nucleotide variant NM_000124.3(ERCC6):c.1159G>A (p.Glu387Lys) 148295935 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50732317 50732317 C T 310458 single nucleotide variant NM_000124.3(ERCC6):c.384C>T (p.Asp128=) 146165518 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49532581 49532581 G A 310458 single nucleotide variant NM_000124.3(ERCC6):c.384C>T (p.Asp128=) 146165518 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50740627 50740627 G A 310460 single nucleotide variant NM_000124.3(ERCC6):c.-83G>A 886047040 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49539030 49539030 C T 310460 single nucleotide variant NM_000124.3(ERCC6):c.-83G>A 886047040 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50747076 50747076 C T 310463 single nucleotide variant NM_000124.3(ERCC6):c.-87C>A 4253004 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49539034 49539034 G T 310463 single nucleotide variant NM_000124.3(ERCC6):c.-87C>A 4253004 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50747080 50747080 G T 315483 deletion NM_000124.3(ERCC6):c.*1964_*1966delATT 147228327 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49456849 49456851 AAT - 315483 deletion NM_000124.3(ERCC6):c.*1964_*1966delATT 147228327 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50664895 50664897 AAT - 315486 single nucleotide variant NM_000124.3(ERCC6):c.*1860A>G 886047022 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49456955 49456955 T C 315486 single nucleotide variant NM_000124.3(ERCC6):c.*1860A>G 886047022 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50665001 50665001 T C 315487 single nucleotide variant NM_000124.3(ERCC6):c.*1383T>G 886047023 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49457432 49457432 A C 315487 single nucleotide variant NM_000124.3(ERCC6):c.*1383T>G 886047023 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50665478 50665478 A C 315490 single nucleotide variant NM_000124.3(ERCC6):c.*933G>A 3750751 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50665928 50665928 C T 315490 single nucleotide variant NM_000124.3(ERCC6):c.*933G>A 3750751 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49457882 49457882 C T 315492 single nucleotide variant NM_000124.3(ERCC6):c.*900C>T 189979670 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50665961 50665961 G A 315492 single nucleotide variant NM_000124.3(ERCC6):c.*900C>T 189979670 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49457915 49457915 G A 315497 single nucleotide variant NM_000124.3(ERCC6):c.*643G>A 886047027 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49458172 49458172 C T 315497 single nucleotide variant NM_000124.3(ERCC6):c.*643G>A 886047027 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50666218 50666218 C T 315512 single nucleotide variant NM_000124.3(ERCC6):c.*38A>G 756639495 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49458777 49458777 T C 315512 single nucleotide variant NM_000124.3(ERCC6):c.*38A>G 756639495 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50666823 50666823 T C 315513 single nucleotide variant NM_000124.3(ERCC6):c.4393G>A (p.Val1465Ile) 201813523 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49458904 49458904 C T 315513 single nucleotide variant NM_000124.3(ERCC6):c.4393G>A (p.Val1465Ile) 201813523 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50666950 50666950 C T 315526 single nucleotide variant NM_000124.3(ERCC6):c.4391G>C (p.Cys1464Ser) 759125039 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49458906 49458906 C G 315526 single nucleotide variant NM_000124.3(ERCC6):c.4391G>C (p.Cys1464Ser) 759125039 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50666952 50666952 C G 315528 single nucleotide variant NM_000124.3(ERCC6):c.4223A>C (p.Glu1408Ala) 61760167 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49459074 49459074 T G 315528 single nucleotide variant NM_000124.3(ERCC6):c.4223A>C (p.Glu1408Ala) 61760167 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50667120 50667120 T G 315536 single nucleotide variant NM_000124.3(ERCC6):c.4211G>A (p.Arg1404His) 755854972 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49459086 49459086 C T 315536 single nucleotide variant NM_000124.3(ERCC6):c.4211G>A (p.Arg1404His) 755854972 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50667132 50667132 C T 315545 single nucleotide variant NM_000124.3(ERCC6):c.3965G>T (p.Gly1322Val) 4253219 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49461370 49461370 C A 315545 single nucleotide variant NM_000124.3(ERCC6):c.3965G>T (p.Gly1322Val) 4253219 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50669416 50669416 C A 315546 single nucleotide variant NM_000124.3(ERCC6):c.3804C>T (p.His1268=) 116032070 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49461531 49461531 G A 315546 single nucleotide variant NM_000124.3(ERCC6):c.3804C>T (p.His1268=) 116032070 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50669577 50669577 G A 315551 single nucleotide variant NM_000124.3(ERCC6):c.3482G>C (p.Ser1161Thr) 148636026 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49470478 49470478 C G 315551 single nucleotide variant NM_000124.3(ERCC6):c.3482G>C (p.Ser1161Thr) 148636026 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50678524 50678524 C G 315552 single nucleotide variant NM_000124.3(ERCC6):c.3191A>G (p.Asn1064Ser) 200093886 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49470769 49470769 T C 315552 single nucleotide variant NM_000124.3(ERCC6):c.3191A>G (p.Asn1064Ser) 200093886 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50678815 50678815 T C 315553 single nucleotide variant NM_000124.3(ERCC6):c.2974C>G (p.Gln992Glu) 772104945 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49471071 49471071 G C 315553 single nucleotide variant NM_000124.3(ERCC6):c.2974C>G (p.Gln992Glu) 772104945 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50679117 50679117 G C 315554 single nucleotide variant NM_000124.3(ERCC6):c.2741C>T (p.Thr914Met) 142580756 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49472997 49472997 G A 315554 single nucleotide variant NM_000124.3(ERCC6):c.2741C>T (p.Thr914Met) 142580756 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50681043 50681043 G A 315555 single nucleotide variant NM_000124.3(ERCC6):c.2697G>A (p.Thr899=) 761802751 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49473489 49473489 C T 315555 single nucleotide variant NM_000124.3(ERCC6):c.2697G>A (p.Thr899=) 761802751 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50681535 50681535 C T 315556 single nucleotide variant NM_000124.3(ERCC6):c.2397T>C (p.Leu799=) 200079929 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49474228 49474228 A G 315556 single nucleotide variant NM_000124.3(ERCC6):c.2397T>C (p.Leu799=) 200079929 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50682274 50682274 A G 315570 single nucleotide variant NM_000124.3(ERCC6):c.2337C>T (p.Phe779=) 114490473 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49476260 49476260 G A 315570 single nucleotide variant NM_000124.3(ERCC6):c.2337C>T (p.Phe779=) 114490473 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50684306 50684306 G A 315571 single nucleotide variant NM_000124.3(ERCC6):c.2022T>A (p.Ser674=) 544471829 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49482834 49482834 A T 315571 single nucleotide variant NM_000124.3(ERCC6):c.2022T>A (p.Ser674=) 544471829 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50690880 50690880 A T 315576 single nucleotide variant NM_000124.3(ERCC6):c.1992+7C>T 373710355 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49483339 49483339 G A 315576 single nucleotide variant NM_000124.3(ERCC6):c.1992+7C>T 373710355 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50691385 50691385 G A 315577 single nucleotide variant NM_000124.3(ERCC6):c.1158C>T (p.Asp386=) 141391984 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49524272 49524272 G A 315577 single nucleotide variant NM_000124.3(ERCC6):c.1158C>T (p.Asp386=) 141391984 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50732318 50732318 G A 315579 single nucleotide variant NM_000124.3(ERCC6):c.1158C>A (p.Asp386Glu) 141391984 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49524272 49524272 G T 315579 single nucleotide variant NM_000124.3(ERCC6):c.1158C>A (p.Asp386Glu) 141391984 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50732318 50732318 G T 315580 single nucleotide variant NM_000124.3(ERCC6):c.1146G>A (p.Glu382=) 4253045 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49524284 49524284 C T 315580 single nucleotide variant NM_000124.3(ERCC6):c.1146G>A (p.Glu382=) 4253045 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50732330 50732330 C T 315583 single nucleotide variant NM_000124.3(ERCC6):c.1062T>C (p.Pro354=) 764159237 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49524368 49524368 A G 315583 single nucleotide variant NM_000124.3(ERCC6):c.1062T>C (p.Pro354=) 764159237 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50732414 50732414 A G 315584 single nucleotide variant NM_000124.3(ERCC6):c.-100A>G 886047041 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49539047 49539047 T C 315584 single nucleotide variant NM_000124.3(ERCC6):c.-100A>G 886047041 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50747093 50747093 T C 321486 single nucleotide variant NM_000124.3(ERCC6):c.*2237C>T 192242583 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49456578 49456578 G A 321486 single nucleotide variant NM_000124.3(ERCC6):c.*2237C>T 192242583 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50664624 50664624 G A 321490 single nucleotide variant NM_000124.3(ERCC6):c.*2137A>G 114723899 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49456678 49456678 T C 321490 single nucleotide variant NM_000124.3(ERCC6):c.*2137A>G 114723899 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50664724 50664724 T C 321491 duplication NM_000124.3(ERCC6):c.*1981dupT 557832376 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49456834 49456834 A AA 321491 duplication NM_000124.3(ERCC6):c.*1981dupT 557832376 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50664880 50664880 A AA 321494 single nucleotide variant NM_000124.3(ERCC6):c.*1933A>G 748783305 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49456882 49456882 T C 321494 single nucleotide variant NM_000124.3(ERCC6):c.*1933A>G 748783305 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50664928 50664928 T C 321495 single nucleotide variant NM_000124.3(ERCC6):c.*1872C>T 115281814 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49456943 49456943 G A 321495 single nucleotide variant NM_000124.3(ERCC6):c.*1872C>T 115281814 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50664989 50664989 G A 321506 single nucleotide variant NM_000124.3(ERCC6):c.*1780T>C 188228522 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49457035 49457035 A G 321506 single nucleotide variant NM_000124.3(ERCC6):c.*1780T>C 188228522 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50665081 50665081 A G 321507 single nucleotide variant NM_000124.3(ERCC6):c.*1112G>A 186262133 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49457703 49457703 C T 321507 single nucleotide variant NM_000124.3(ERCC6):c.*1112G>A 186262133 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50665749 50665749 C T 321508 single nucleotide variant NM_000124.3(ERCC6):c.*755A>G 886047024 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50666106 50666106 T C 321508 single nucleotide variant NM_000124.3(ERCC6):c.*755A>G 886047024 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49458060 49458060 T C 321509 single nucleotide variant NM_000124.3(ERCC6):c.*751G>A 886047025 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49458064 49458064 C T 321509 single nucleotide variant NM_000124.3(ERCC6):c.*751G>A 886047025 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50666110 50666110 C T 321510 single nucleotide variant NM_000124.3(ERCC6):c.*53T>C 4253231 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49458762 49458762 A G 321510 single nucleotide variant NM_000124.3(ERCC6):c.*53T>C 4253231 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50666808 50666808 A G 321511 single nucleotide variant NM_000124.3(ERCC6):c.4322C>T (p.Thr1441Ile) 4253230 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49458975 49458975 G A 321511 single nucleotide variant NM_000124.3(ERCC6):c.4322C>T (p.Thr1441Ile) 4253230 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50667021 50667021 G A 321522 single nucleotide variant NM_000124.3(ERCC6):c.3774A>G (p.Lys1258=) 35756610 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49470186 49470186 T C 321522 single nucleotide variant NM_000124.3(ERCC6):c.3774A>G (p.Lys1258=) 35756610 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50678232 50678232 T C 321540 single nucleotide variant NM_000124.3(ERCC6):c.3594A>G (p.Lys1198=) 374791168 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49470366 49470366 T C 321540 single nucleotide variant NM_000124.3(ERCC6):c.3594A>G (p.Lys1198=) 374791168 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50678412 50678412 T C 321541 single nucleotide variant NM_000124.3(ERCC6):c.3480C>G (p.Pro1160=) 886047034 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49470480 49470480 G C 321541 single nucleotide variant NM_000124.3(ERCC6):c.3480C>G (p.Pro1160=) 886047034 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50678526 50678526 G C 321548 single nucleotide variant NM_000124.3(ERCC6):c.3456T>G (p.Gly1152=) 148366188 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49470504 49470504 A C 321548 single nucleotide variant NM_000124.3(ERCC6):c.3456T>G (p.Gly1152=) 148366188 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50678550 50678550 A C 321549 single nucleotide variant NM_000124.3(ERCC6):c.3186T>C (p.Ser1062=) 35365613 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49470774 49470774 A G 321549 single nucleotide variant NM_000124.3(ERCC6):c.3186T>C (p.Ser1062=) 35365613 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50678820 50678820 A G 321557 single nucleotide variant NM_000124.3(ERCC6):c.2989A>G (p.Lys997Glu) 375181157 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49471056 49471056 T C 321557 single nucleotide variant NM_000124.3(ERCC6):c.2989A>G (p.Lys997Glu) 375181157 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50679102 50679102 T C 321558 single nucleotide variant NM_000124.3(ERCC6):c.2598+7G>A 769421755 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50682066 50682066 C T 321558 single nucleotide variant NM_000124.3(ERCC6):c.2598+7G>A 769421755 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49474020 49474020 C T 321563 single nucleotide variant NM_000124.3(ERCC6):c.2391C>T (p.Ser797=) 142641602 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49474234 49474234 G A 321563 single nucleotide variant NM_000124.3(ERCC6):c.2391C>T (p.Ser797=) 142641602 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50682280 50682280 G A 321566 single nucleotide variant NM_000124.3(ERCC6):c.2390C>G (p.Ser797Cys) 146043988 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49474235 49474235 G C 321566 single nucleotide variant NM_000124.3(ERCC6):c.2390C>G (p.Ser797Cys) 146043988 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50682281 50682281 G C 321568 single nucleotide variant NM_000124.3(ERCC6):c.2125G>A (p.Val709Ile) 369437807 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49482731 49482731 C T 321568 single nucleotide variant NM_000124.3(ERCC6):c.2125G>A (p.Val709Ile) 369437807 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50690777 50690777 C T 321569 single nucleotide variant NM_000124.3(ERCC6):c.1436G>A (p.Arg479His) 139161933 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49505974 49505974 C T 321569 single nucleotide variant NM_000124.3(ERCC6):c.1436G>A (p.Arg479His) 139161933 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50714020 50714020 C T 321576 single nucleotide variant NM_000124.3(ERCC6):c.1158C>G (p.Asp386Glu) 141391984 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49524272 49524272 G C 321576 single nucleotide variant NM_000124.3(ERCC6):c.1158C>G (p.Asp386Glu) 141391984 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50732318 50732318 G C 321577 single nucleotide variant NM_000124.3(ERCC6):c.858G>C (p.Lys286Asn) 143260457 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49524572 49524572 C G 321577 single nucleotide variant NM_000124.3(ERCC6):c.858G>C (p.Lys286Asn) 143260457 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50732618 50732618 C G 321580 single nucleotide variant NM_000124.3(ERCC6):c.595C>G (p.Leu199Val) 886047039 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49528474 49528474 G C 321580 single nucleotide variant NM_000124.3(ERCC6):c.595C>G (p.Leu199Val) 886047039 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50736520 50736520 G C 321586 single nucleotide variant NM_000124.3(ERCC6):c.379G>A (p.Val127Ile) 116275562 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49532586 49532586 C T 321586 single nucleotide variant NM_000124.3(ERCC6):c.379G>A (p.Val127Ile) 116275562 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50740632 50740632 C T 321588 single nucleotide variant NM_000124.3(ERCC6):c.-78G>T 4253005 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49539025 49539025 C A 321588 single nucleotide variant NM_000124.3(ERCC6):c.-78G>T 4253005 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50747071 50747071 C A 321589 single nucleotide variant NM_000124.3(ERCC6):c.-107A>G 886047042 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49539054 49539054 T C 321589 single nucleotide variant NM_000124.3(ERCC6):c.-107A>G 886047042 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50747100 50747100 T C 322273 single nucleotide variant NM_000124.3(ERCC6):c.*2155T>C 114183603 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49456660 49456660 A G 322273 single nucleotide variant NM_000124.3(ERCC6):c.*2155T>C 114183603 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50664706 50664706 A G 322279 single nucleotide variant NM_000124.3(ERCC6):c.*1830T>C 11101137 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49456985 49456985 A G 322279 single nucleotide variant NM_000124.3(ERCC6):c.*1830T>C 11101137 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50665031 50665031 A G 322288 single nucleotide variant NM_000124.3(ERCC6):c.*1279T>A 189942338 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49457536 49457536 A T 322288 single nucleotide variant NM_000124.3(ERCC6):c.*1279T>A 189942338 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50665582 50665582 A T 322296 single nucleotide variant NM_000124.3(ERCC6):c.*1275C>G 182177140 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49457540 49457540 G C 322296 single nucleotide variant NM_000124.3(ERCC6):c.*1275C>G 182177140 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50665586 50665586 G C 322297 single nucleotide variant NM_000124.3(ERCC6):c.*977A>G 765959190 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49457838 49457838 T C 322297 single nucleotide variant NM_000124.3(ERCC6):c.*977A>G 765959190 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50665884 50665884 T C 322298 single nucleotide variant NM_000124.3(ERCC6):c.*482C>A 886047028 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49458333 49458333 G T 322298 single nucleotide variant NM_000124.3(ERCC6):c.*482C>A 886047028 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50666379 50666379 G T 322299 single nucleotide variant NM_000124.3(ERCC6):c.*388C>A 886047029 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49458427 49458427 G T 322299 single nucleotide variant NM_000124.3(ERCC6):c.*388C>A 886047029 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50666473 50666473 G T 322302 duplication NM_000124.3(ERCC6):c.*232dupT 886047031 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50666629 50666629 A AA 322302 duplication NM_000124.3(ERCC6):c.*232dupT 886047031 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49458583 49458583 A AA 322303 single nucleotide variant NM_000124.3(ERCC6):c.4114G>A (p.Gly1372Arg) 4253227 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49459183 49459183 C T 322303 single nucleotide variant NM_000124.3(ERCC6):c.4114G>A (p.Gly1372Arg) 4253227 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50667229 50667229 C T 322306 single nucleotide variant NM_000124.3(ERCC6):c.3481A>C (p.Ser1161Arg) 142094044 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49470479 49470479 T G 322306 single nucleotide variant NM_000124.3(ERCC6):c.3481A>C (p.Ser1161Arg) 142094044 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50678525 50678525 T G 322307 single nucleotide variant NM_000124.3(ERCC6):c.2696C>T (p.Thr899Met) 374470147 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49473490 49473490 G A 322307 single nucleotide variant NM_000124.3(ERCC6):c.2696C>T (p.Thr899Met) 374470147 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50681536 50681536 G A 322308 single nucleotide variant NM_000124.3(ERCC6):c.2645A>G (p.Tyr882Cys) 116431130 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50681587 50681587 T C 322308 single nucleotide variant NM_000124.3(ERCC6):c.2645A>G (p.Tyr882Cys) 116431130 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49473541 49473541 T C 322309 deletion NM_000124.3(ERCC6):c.2487_2489delAGA (p.Glu829del) 886047036 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50682182 50682184 TCT - 322309 deletion NM_000124.3(ERCC6):c.2487_2489delAGA (p.Glu829del) 886047036 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49474136 49474138 TCT - 322317 single nucleotide variant NM_000124.3(ERCC6):c.2365C>G (p.Leu789Val) 139913322 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49476232 49476232 G C 322317 single nucleotide variant NM_000124.3(ERCC6):c.2365C>G (p.Leu789Val) 139913322 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50684278 50684278 G C 322318 single nucleotide variant NM_000124.3(ERCC6):c.2287-5C>T 772880581 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49476315 49476315 G A 322318 single nucleotide variant NM_000124.3(ERCC6):c.2287-5C>T 772880581 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50684361 50684361 G A 322323 single nucleotide variant NM_000124.3(ERCC6):c.1761G>T (p.Thr587=) 144608959 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50701223 50701223 C A 322323 single nucleotide variant NM_000124.3(ERCC6):c.1761G>T (p.Thr587=) 144608959 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49493177 49493177 C A 322324 single nucleotide variant NM_000124.3(ERCC6):c.1760C>T (p.Thr587Met) 767709344 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49493178 49493178 G A 322324 single nucleotide variant NM_000124.3(ERCC6):c.1760C>T (p.Thr587Met) 767709344 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50701224 50701224 G A 322325 insertion NM_000124.3(ERCC6):c.1432_1433insTC (p.Lys478Ilefs) 886047037 MedGen:CN239385 10 49505977 49505978 - GA 322325 insertion NM_000124.3(ERCC6):c.1432_1433insTC (p.Lys478Ilefs) 886047037 MedGen:CN239385 10 50714023 50714024 - GA 322326 single nucleotide variant NM_000124.3(ERCC6):c.1274A>C (p.Asp425Ala) 4253046 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49524156 49524156 T G 322326 single nucleotide variant NM_000124.3(ERCC6):c.1274A>C (p.Asp425Ala) 4253046 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50732202 50732202 T G 322330 single nucleotide variant NM_000124.3(ERCC6):c.901C>T (p.Pro301Ser) 766256094 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50732575 50732575 G A 322330 single nucleotide variant NM_000124.3(ERCC6):c.901C>T (p.Pro301Ser) 766256094 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49524529 49524529 G A 322331 single nucleotide variant NM_000124.3(ERCC6):c.-15+11G>A 766986601 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49538951 49538951 C T 322331 single nucleotide variant NM_000124.3(ERCC6):c.-15+11G>A 766986601 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50746997 50746997 C T 322340 single nucleotide variant NM_000124.3(ERCC6):c.-22G>A 4253006 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49538969 49538969 C T 322340 single nucleotide variant NM_000124.3(ERCC6):c.-22G>A 4253006 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50747015 50747015 C T 322344 single nucleotide variant NM_000124.3(ERCC6):c.-52G>A 550772412 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 49538999 49538999 C T 322344 single nucleotide variant NM_000124.3(ERCC6):c.-52G>A 550772412 MedGen:CN239231;MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207;Human Phenotype Ontology:HP:0000608,MedGen:C1849131 10 50747045 50747045 C T 360919 single nucleotide variant NM_000124.3(ERCC6):c.1589T>C (p.Leu530Pro) 1057518910 MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207 10 49500634 49500634 A G 360919 single nucleotide variant NM_000124.3(ERCC6):c.1589T>C (p.Leu530Pro) 1057518910 MedGen:C0009207,Orphanet:ORPHA191,SNOMED CT:C0009207 10 50708680 50708680 A G

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 10 50693350 rs7076173 C T rs7076173 8.51E-05 White matter integrity HPOID:0002500 DOID:3312|DOID:936 T intron GWASdb_trait 10 50710123 rs4838524 C T rs4838524 1.58E-04 White matter integrity HPOID:0002500 DOID:3312|DOID:936 T intron GWASdb_trait 10 50710620 rs958967 G A rs958967 1.58E-04 White matter integrity HPOID:0002500 DOID:3312|DOID:936 A intron GWASdb_trait 10 50736979 rs4253038 A G rs4253038 7.72E-04 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000225830.11 ERCC6 609413