Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.71442257_71442290delinsGGCTACCTGCAGGAGTCACGGCCCCCTCCTGGATCA1981490198DHCR7c.385_412+6delinsATCCAGGAGGGGGCCGTGACTCCTGCAGGTAGCC
c.211_238+6delinsATCCAGGAGGGGGCCGTGACTCCTGCAGGTAGCC
c.421_448+6delinsATCCAGGAGGGGGCCGTGACTCCTGCAGGTAGCC
n.662_689+6delinsATCCAGGAGGGGGCCGTGACTCCTGCAGGTAGCC
c.-201_-174+6delinsATCCAGGAGGGGGCCGTGACTCCTGCAGGTAGCC
c.289_316+6delinsATCCAGGAGGGGGCCGTGACTCCTGCAGGTAGCC
11g.71442260_71442292delCA6162587DHCR7c.385_412+5del
c.211_238+5del
c.421_448+5del
n.662_689+5del
c.-201_-174+5del
c.289_316+5del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71442261_71442286delCA2695214968DHCR7c.391_412+4del
c.217_238+4del
c.427_448+4del
n.668_689+4del
c.-195_-174+4del
c.295_316+4del
11g.71442263_71442299delCA2614861733DHCR7c.380_412+4del
c.206_238+4del
c.416_448+4del
n.657_689+4del
c.-206_-174+4del
c.284_316+4del
 gnomAD v4
11g.71442260T>ACA259777DHCR7c.412+3A>T (n.412+3A>T)
c.238+3A>T (n.238+3A>T)
c.448+3A>T (n.448+3A>T)
n.689+3A>T
c.-174+3A>T (n.-174+3A>T)
c.316+3A>T (n.316+3A>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.71442260T>CCA915948244DHCR7c.412+3A>G (n.412+3A>G)
c.238+3A>G (n.238+3A>G)
c.448+3A>G (n.448+3A>G)
n.689+3A>G
c.-174+3A>G (n.-174+3A>G)
c.316+3A>G (n.316+3A>G)
 ClinVar dbSNP
11g.71442260T=CA1981490202DHCR7c.412+3A= (n.412+3A=)
c.238+3A= (n.238+3A=)
c.448+3A= (n.448+3A=)
n.689+3A=
c.-174+3A= (n.-174+3A=)
c.316+3A= (n.316+3A=)
11g.71442261A>CCA381694737DHCR7c.412+2T>G (n.412+2T>G)
c.238+2T>G (n.238+2T>G)
c.448+2T>G (n.448+2T>G)
n.689+2T>G
c.-174+2T>G (n.-174+2T>G)
c.316+2T>G (n.316+2T>G)
 gnomAD v4
11g.71442261A>GCA381694739DHCR7c.412+2T>C (n.412+2T>C)
c.238+2T>C (n.238+2T>C)
c.448+2T>C (n.448+2T>C)
n.689+2T>C
c.-174+2T>C (n.-174+2T>C)
c.316+2T>C (n.316+2T>C)
 ClinVar gnomAD v4
11g.71442261A>TCA381694738DHCR7c.412+2T>A (n.412+2T>A)
c.238+2T>A (n.238+2T>A)
c.448+2T>A (n.448+2T>A)
n.689+2T>A
c.-174+2T>A (n.-174+2T>A)
c.316+2T>A (n.316+2T>A)
11g.71442266_71442356delCA259776DHCR7c.324_412+2del
c.150_238+2del
c.360_448+2del
n.601_689+2del
c.-262_-174+2del
c.228_316+2del
11g.71442262C>ACA381694740DHCR7c.412+1G>T (n.412+1G>T)
c.238+1G>T (n.238+1G>T)
c.448+1G>T (n.448+1G>T)
n.689+1G>T
c.-174+1G>T (n.-174+1G>T)
c.316+1G>T (n.316+1G>T)
11g.71442262C>GCA381694742DHCR7c.412+1G>C (n.412+1G>C)
c.238+1G>C (n.238+1G>C)
c.448+1G>C (n.448+1G>C)
n.689+1G>C
c.-174+1G>C (n.-174+1G>C)
c.316+1G>C (n.316+1G>C)
11g.71442262C>TCA381694741DHCR7c.412+1G>A (n.412+1G>A)
c.238+1G>A (n.238+1G>A)
c.448+1G>A (n.448+1G>A)
n.689+1G>A
c.-174+1G>A (n.-174+1G>A)
c.316+1G>A (n.316+1G>A)
11g.71442263C>ACA381694743DHCR7c.412G>T (p.Gly138Trp)
c.238G>T (p.Gly80Trp)
c.448G>T (p.Gly150Trp)
n.689G>T
c.-174G>T (n.-174G>T)
c.316G>T (p.Gly106Trp)
11g.71442263C>GCA381694744DHCR7c.412G>C (p.Gly138Arg)
c.238G>C (p.Gly80Arg)
c.448G>C (p.Gly150Arg)
n.689G>C
c.-174G>C (n.-174G>C)
c.316G>C (p.Gly106Arg)
11g.71442263C>TCA381694745DHCR7c.412G>A (p.Gly138Arg)
c.238G>A (p.Gly80Arg)
c.448G>A (p.Gly150Arg)
n.689G>A
c.-174G>A (n.-174G>A)
c.316G>A (p.Gly106Arg)
11g.71442264T>ACA475519612DHCR7c.411A>T (p.Ala137=)
c.237A>T (p.Ala79=)
c.447A>T (p.Ala149=)
n.688A>T
c.-175A>T (n.-175A>T)
c.315A>T (p.Ala105=)
11g.71442264T>CCA475519613DHCR7c.411A>G (p.Ala137=)
c.237A>G (p.Ala79=)
c.447A>G (p.Ala149=)
n.688A>G
c.-175A>G (n.-175A>G)
c.315A>G (p.Ala105=)
 dbSNP gnomAD v2
11g.71442264T>GCA475519614DHCR7c.411A>C (p.Ala137=)
c.237A>C (p.Ala79=)
c.447A>C (p.Ala149=)
n.688A>C
c.-175A>C (n.-175A>C)
c.315A>C (p.Ala105=)
11g.71442264T=CA1981490203DHCR7c.411A= (p.Ala137=)
c.237A= (p.Ala79=)
c.447A= (p.Ala149=)
n.688A=
c.-175A= (n.-175A=)
c.315A= (p.Ala105=)
11g.71442265G>ACA381694747DHCR7c.410C>T (p.Ala137Val)
c.236C>T (p.Ala79Val)
c.446C>T (p.Ala149Val)
n.687C>T
c.-176C>T (n.-176C>T)
c.314C>T (p.Ala105Val)
 gnomAD v4
11g.71442265G>CCA381694749DHCR7c.410C>G (p.Ala137Gly)
c.236C>G (p.Ala79Gly)
c.446C>G (p.Ala149Gly)
n.687C>G
c.-176C>G (n.-176C>G)
c.314C>G (p.Ala105Gly)
11g.71442265G>TCA381694752DHCR7c.410C>A (p.Ala137Glu)
c.236C>A (p.Ala79Glu)
c.446C>A (p.Ala149Glu)
n.687C>A
c.-176C>A (n.-176C>A)
c.314C>A (p.Ala105Glu)
11g.71442266_71442268delCA2614861785DHCR7c.408_410del (p.Ala137del)
c.234_236del (p.Ala79del)
c.444_446del (p.Ala149del)
n.685_687del
c.-178_-176del (n.-178_-176del)
c.312_314del (p.Ala105del)
 gnomAD v4
11g.71442266C>ACA6162589DHCR7c.409G>T (p.Ala137Ser)
c.235G>T (p.Ala79Ser)
c.445G>T (p.Ala149Ser)
n.686G>T
c.-177G>T (n.-177G>T)
c.313G>T (p.Ala105Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71442266C=CA1981490204DHCR7c.409G= (p.Ala137=)
c.235G= (p.Ala79=)
c.445G= (p.Ala149=)
n.686G=
c.-177G= (n.-177G=)
c.313G= (p.Ala105=)
11g.71442266C>GCA381694756DHCR7c.409G>C (p.Ala137Pro)
c.235G>C (p.Ala79Pro)
c.445G>C (p.Ala149Pro)
n.686G>C
c.-177G>C (n.-177G>C)
c.313G>C (p.Ala105Pro)
11g.71442266C>TCA381694759DHCR7c.409G>A (p.Ala137Thr)
c.235G>A (p.Ala79Thr)
c.445G>A (p.Ala149Thr)
n.686G>A
c.-177G>A (n.-177G>A)
c.313G>A (p.Ala105Thr)
11g.71442267A=CA1981490206DHCR7c.408T= (p.Pro136=)
c.234T= (p.Pro78=)
c.444T= (p.Pro148=)
n.685T=
c.-178T= (n.-178T=)
c.312T= (p.Pro104=)
11g.71442267A>CCA6162590DHCR7c.408T>G (p.Pro136=)
c.234T>G (p.Pro78=)
c.444T>G (p.Pro148=)
n.685T>G
c.-178T>G (n.-178T>G)
c.312T>G (p.Pro104=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71442267A>GCA475519616DHCR7c.408T>C (p.Pro136=)
c.234T>C (p.Pro78=)
c.444T>C (p.Pro148=)
n.685T>C
c.-178T>C (n.-178T>C)
c.312T>C (p.Pro104=)
11g.71442267A>TCA475519617DHCR7c.408T>A (p.Pro136=)
c.234T>A (p.Pro78=)
c.444T>A (p.Pro148=)
n.685T>A
c.-178T>A (n.-178T>A)
c.312T>A (p.Pro104=)
11g.71442267_71442275delinsAGGAGTCACCA1981490205DHCR7c.400_408delinsGTGACTCCT (p.Val134=)
c.226_234delinsGTGACTCCT (p.Val76=)
c.436_444delinsGTGACTCCT (p.Val146=)
n.677_685delinsGTGACTCCT
c.-186_-178delinsGTGACTCCT (n.-186_-178delinsGTGACTCCT)
c.304_312delinsGTGACTCCT (p.Val102=)
11g.71442268G>ACA381694770DHCR7c.407C>T (p.Pro136Leu)
c.233C>T (p.Pro78Leu)
c.443C>T (p.Pro148Leu)
n.684C>T
c.-179C>T (n.-179C>T)
c.311C>T (p.Pro104Leu)
11g.71442268G>CCA381694764DHCR7c.407C>G (p.Pro136Arg)
c.233C>G (p.Pro78Arg)
c.443C>G (p.Pro148Arg)
n.684C>G
c.-179C>G (n.-179C>G)
c.311C>G (p.Pro104Arg)
 gnomAD v4
11g.71442268G>TCA381694768DHCR7c.407C>A (p.Pro136His)
c.233C>A (p.Pro78His)
c.443C>A (p.Pro148His)
n.684C>A
c.-179C>A (n.-179C>A)
c.311C>A (p.Pro104His)
11g.71442270_71442277delCA6162591DHCR7c.400_407del (p.Val134CysfsTer?)
c.226_233del (p.Val76CysfsTer?)
c.436_443del (p.Val146CysfsTer?)
n.677_684del
c.-186_-179del (n.-186_-179del)
c.304_311del (p.Val102CysfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.71442269G>ACA381694773DHCR7c.406C>T (p.Pro136Ser)
c.232C>T (p.Pro78Ser)
c.442C>T (p.Pro148Ser)
n.683C>T
c.-180C>T (n.-180C>T)
c.310C>T (p.Pro104Ser)
11g.71442269G>CCA381694775DHCR7c.406C>G (p.Pro136Ala)
c.232C>G (p.Pro78Ala)
c.442C>G (p.Pro148Ala)
n.683C>G
c.-180C>G (n.-180C>G)
c.310C>G (p.Pro104Ala)
11g.71442269G>TCA381694778DHCR7c.406C>A (p.Pro136Thr)
c.232C>A (p.Pro78Thr)
c.442C>A (p.Pro148Thr)
n.683C>A
c.-180C>A (n.-180C>A)
c.310C>A (p.Pro104Thr)
11g.71442270A>CCA475519618DHCR7c.405T>G (p.Thr135=)
c.231T>G (p.Thr77=)
c.441T>G (p.Thr147=)
n.682T>G
c.-181T>G (n.-181T>G)
c.309T>G (p.Thr103=)
11g.71442270A>GCA475519620DHCR7c.405T>C (p.Thr135=)
c.231T>C (p.Thr77=)
c.441T>C (p.Thr147=)
n.682T>C
c.-181T>C (n.-181T>C)
c.309T>C (p.Thr103=)
11g.71442270A>TCA475519619DHCR7c.405T>A (p.Thr135=)
c.231T>A (p.Thr77=)
c.441T>A (p.Thr147=)
n.682T>A
c.-181T>A (n.-181T>A)
c.309T>A (p.Thr103=)
11g.71442271G>ACA381694782DHCR7c.404C>T (p.Thr135Ile)
c.230C>T (p.Thr77Ile)
c.440C>T (p.Thr147Ile)
n.681C>T
c.-182C>T (n.-182C>T)
c.308C>T (p.Thr103Ile)
 COSMIC COSMIC
11g.71442271G>CCA381694784DHCR7c.404C>G (p.Thr135Ser)
c.230C>G (p.Thr77Ser)
c.440C>G (p.Thr147Ser)
n.681C>G
c.-182C>G (n.-182C>G)
c.308C>G (p.Thr103Ser)
11g.71442271G>TCA381694786DHCR7c.404C>A (p.Thr135Asn)
c.230C>A (p.Thr77Asn)
c.440C>A (p.Thr147Asn)
n.681C>A
c.-182C>A (n.-182C>A)
c.308C>A (p.Thr103Asn)
11g.71442272T>ACA381694788DHCR7c.403A>T (p.Thr135Ser)
c.229A>T (p.Thr77Ser)
c.439A>T (p.Thr147Ser)
n.680A>T
c.-183A>T (n.-183A>T)
c.307A>T (p.Thr103Ser)
11g.71442272T>CCA381694790DHCR7c.403A>G (p.Thr135Ala)
c.229A>G (p.Thr77Ala)
c.439A>G (p.Thr147Ala)
n.680A>G
c.-183A>G (n.-183A>G)
c.307A>G (p.Thr103Ala)
11g.71442272T>GCA381694791DHCR7c.403A>C (p.Thr135Pro)
c.229A>C (p.Thr77Pro)
c.439A>C (p.Thr147Pro)
n.680A>C
c.-183A>C (n.-183A>C)
c.307A>C (p.Thr103Pro)
11g.71442273C>ACA475519621DHCR7c.402G>T (p.Val134=)
c.228G>T (p.Val76=)
c.438G>T (p.Val146=)
n.679G>T
c.-184G>T (n.-184G>T)
c.306G>T (p.Val102=)
11g.71442273C>GCA475519622DHCR7c.402G>C (p.Val134=)
c.228G>C (p.Val76=)
c.438G>C (p.Val146=)
n.679G>C
c.-184G>C (n.-184G>C)
c.306G>C (p.Val102=)
11g.71442273C>TCA475519623DHCR7c.402G>A (p.Val134=)
c.228G>A (p.Val76=)
c.438G>A (p.Val146=)
n.679G>A
c.-184G>A (n.-184G>A)
c.306G>A (p.Val102=)
 gnomAD v4
11g.71442274_71442275delCA2580085016DHCR7c.401_402del (p.Val134AspfsTer?)
c.227_228del (p.Val76AspfsTer?)
c.437_438del (p.Val146AspfsTer?)
n.678_679del
c.-185_-184del (n.-185_-184del)
c.305_306del (p.Val102AspfsTer?)
 ClinVar
11g.71442274A>CCA381694797DHCR7c.401T>G (p.Val134Gly)
c.227T>G (p.Val76Gly)
c.437T>G (p.Val146Gly)
n.678T>G
c.-185T>G (n.-185T>G)
c.305T>G (p.Val102Gly)
11g.71442274A>GCA381694798DHCR7c.401T>C (p.Val134Ala)
c.227T>C (p.Val76Ala)
c.437T>C (p.Val146Ala)
n.678T>C
c.-185T>C (n.-185T>C)
c.305T>C (p.Val102Ala)
 gnomAD v4
11g.71442274A>TCA381694794DHCR7c.401T>A (p.Val134Glu)
c.227T>A (p.Val76Glu)
c.437T>A (p.Val146Glu)
n.678T>A
c.-185T>A (n.-185T>A)
c.305T>A (p.Val102Glu)
11g.71442275C>ACA221668DHCR7c.400G>T (p.Val134Leu)
c.226G>T (p.Val76Leu)
c.436G>T (p.Val146Leu)
n.677G>T
c.-186G>T (n.-186G>T)
c.304G>T (p.Val102Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71442275C=CA1981490207DHCR7c.400G= (p.Val134=)
c.226G= (p.Val76=)
c.436G= (p.Val146=)
n.677G=
c.-186G= (n.-186G=)
c.304G= (p.Val102=)
11g.71442275C>GCA381694803DHCR7c.400G>C (p.Val134Leu)
c.226G>C (p.Val76Leu)
c.436G>C (p.Val146Leu)
n.677G>C
c.-186G>C (n.-186G>C)
c.304G>C (p.Val102Leu)
11g.71442275C>TCA381694805DHCR7c.400G>A (p.Val134Met)
c.226G>A (p.Val76Met)
c.436G>A (p.Val146Met)
n.677G>A
c.-186G>A (n.-186G>A)
c.304G>A (p.Val102Met)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.71442276G>ACA246033DHCR7c.399C>T (p.Ala133=)
c.225C>T (p.Ala75=)
c.435C>T (p.Ala145=)
n.676C>T
c.-187C>T (n.-187C>T)
c.303C>T (p.Ala101=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71442276G>CCA475519625DHCR7c.399C>G (p.Ala133=)
c.225C>G (p.Ala75=)
c.435C>G (p.Ala145=)
n.676C>G
c.-187C>G (n.-187C>G)
c.303C>G (p.Ala101=)
11g.71442276G=CA1981490208DHCR7c.399C= (p.Ala133=)
c.225C= (p.Ala75=)
c.435C= (p.Ala145=)
n.676C=
c.-187C= (n.-187C=)
c.303C= (p.Ala101=)
11g.71442276G>TCA475519624DHCR7c.399C>A (p.Ala133=)
c.225C>A (p.Ala75=)
c.435C>A (p.Ala145=)
n.676C>A
c.-187C>A (n.-187C>A)
c.303C>A (p.Ala101=)
11g.71442277G>ACA381694810DHCR7c.398C>T (p.Ala133Val)
c.224C>T (p.Ala75Val)
c.434C>T (p.Ala145Val)
n.675C>T
c.-188C>T (n.-188C>T)
c.302C>T (p.Ala101Val)
11g.71442277G>CCA381694813DHCR7c.398C>G (p.Ala133Gly)
c.224C>G (p.Ala75Gly)
c.434C>G (p.Ala145Gly)
n.675C>G
c.-188C>G (n.-188C>G)
c.302C>G (p.Ala101Gly)
 gnomAD v4
11g.71442277G>TCA381694814DHCR7c.398C>A (p.Ala133Asp)
c.224C>A (p.Ala75Asp)
c.434C>A (p.Ala145Asp)
n.675C>A
c.-188C>A (n.-188C>A)
c.302C>A (p.Ala101Asp)
11g.71442278C>ACA381694816DHCR7c.397G>T (p.Ala133Ser)
c.223G>T (p.Ala75Ser)
c.433G>T (p.Ala145Ser)
n.674G>T
c.-189G>T (n.-189G>T)
c.301G>T (p.Ala101Ser)
11g.71442278C=CA1981490209DHCR7c.397G= (p.Ala133=)
c.223G= (p.Ala75=)
c.433G= (p.Ala145=)
n.674G=
c.-189G= (n.-189G=)
c.301G= (p.Ala101=)
11g.71442278C>GCA381694817DHCR7c.397G>C (p.Ala133Pro)
c.223G>C (p.Ala75Pro)
c.433G>C (p.Ala145Pro)
n.674G>C
c.-189G>C (n.-189G>C)
c.301G>C (p.Ala101Pro)
11g.71442278C>TCA6162592DHCR7c.397G>A (p.Ala133Thr)
c.223G>A (p.Ala75Thr)
c.433G>A (p.Ala145Thr)
n.674G>A
c.-189G>A (n.-189G>A)
c.301G>A (p.Ala101Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71442282delCA2614861846DHCR7c.397del (p.Ala133ProfsTer2)
c.223del (p.Ala75ProfsTer2)
c.433del (p.Ala145ProfsTer2)
n.674del
c.-189del (n.-189del)
c.301del (p.Ala101ProfsTer2)
 gnomAD v4
11g.71442279C>ACA475519626DHCR7c.396G>T (p.Gly132=)
c.222G>T (p.Gly74=)
c.432G>T (p.Gly144=)
n.673G>T
c.-190G>T (n.-190G>T)
c.300G>T (p.Gly100=)
11g.71442279C=CA1981490210DHCR7c.396G= (p.Gly132=)
c.222G= (p.Gly74=)
c.432G= (p.Gly144=)
n.673G=
c.-190G= (n.-190G=)
c.300G= (p.Gly100=)
11g.71442279C>GCA475519627DHCR7c.396G>C (p.Gly132=)
c.222G>C (p.Gly74=)
c.432G>C (p.Gly144=)
n.673G>C
c.-190G>C (n.-190G>C)
c.300G>C (p.Gly100=)
 dbSNP
11g.71442279C>TCA6162593DHCR7c.396G>A (p.Gly132=)
c.222G>A (p.Gly74=)
c.432G>A (p.Gly144=)
n.673G>A
c.-190G>A (n.-190G>A)
c.300G>A (p.Gly100=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.71442280C>ACA381694823DHCR7c.395G>T (p.Gly132Val)
c.221G>T (p.Gly74Val)
c.431G>T (p.Gly144Val)
n.672G>T
c.-191G>T (n.-191G>T)
c.299G>T (p.Gly100Val)
11g.71442280C=CA1981490211DHCR7c.395G= (p.Gly132=)
c.221G= (p.Gly74=)
c.431G= (p.Gly144=)
n.672G=
c.-191G= (n.-191G=)
c.299G= (p.Gly100=)
11g.71442280C>GCA381694820DHCR7c.395G>C (p.Gly132Ala)
c.221G>C (p.Gly74Ala)
c.431G>C (p.Gly144Ala)
n.672G>C
c.-191G>C (n.-191G>C)
c.299G>C (p.Gly100Ala)
11g.71442280C>TCA6162594DHCR7c.395G>A (p.Gly132Glu)
c.221G>A (p.Gly74Glu)
c.431G>A (p.Gly144Glu)
n.672G>A
c.-191G>A (n.-191G>A)
c.299G>A (p.Gly100Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71442281C>ACA381694827DHCR7c.394G>T (p.Gly132Trp)
c.220G>T (p.Gly74Trp)
c.430G>T (p.Gly144Trp)
n.671G>T
c.-192G>T (n.-192G>T)
c.298G>T (p.Gly100Trp)
11g.71442281C=CA1981490212DHCR7c.394G= (p.Gly132=)
c.220G= (p.Gly74=)
c.430G= (p.Gly144=)
n.671G=
c.-192G= (n.-192G=)
c.298G= (p.Gly100=)
11g.71442281C>GCA381694828DHCR7c.394G>C (p.Gly132Arg)
c.220G>C (p.Gly74Arg)
c.430G>C (p.Gly144Arg)
n.671G>C
c.-192G>C (n.-192G>C)
c.298G>C (p.Gly100Arg)
 dbSNP
11g.71442281C>TCA381694830DHCR7c.394G>A (p.Gly132Arg)
c.220G>A (p.Gly74Arg)
c.430G>A (p.Gly144Arg)
n.671G>A
c.-192G>A (n.-192G>A)
c.298G>A (p.Gly100Arg)
 dbSNP gnomAD v2 gnomAD v4
11g.71442282C>ACA381694831DHCR7c.393G>T (p.Glu131Asp)
c.219G>T (p.Glu73Asp)
c.429G>T (p.Glu143Asp)
n.670G>T
c.-193G>T (n.-193G>T)
c.297G>T (p.Glu99Asp)
11g.71442282C>GCA381694833DHCR7c.393G>C (p.Glu131Asp)
c.219G>C (p.Glu73Asp)
c.429G>C (p.Glu143Asp)
n.670G>C
c.-193G>C (n.-193G>C)
c.297G>C (p.Glu99Asp)
11g.71442282C>TCA475519628DHCR7c.393G>A (p.Glu131=)
c.219G>A (p.Glu73=)
c.429G>A (p.Glu143=)
n.670G>A
c.-193G>A (n.-193G>A)
c.297G>A (p.Glu99=)
 ClinVar dbSNP COSMIC COSMIC
11g.71442283T>ACA381694836DHCR7c.392A>T (p.Glu131Val)
c.218A>T (p.Glu73Val)
c.428A>T (p.Glu143Val)
n.669A>T
c.-194A>T (n.-194A>T)
c.296A>T (p.Glu99Val)
11g.71442283T>CCA381694838DHCR7c.392A>G (p.Glu131Gly)
c.218A>G (p.Glu73Gly)
c.428A>G (p.Glu143Gly)
n.669A>G
c.-194A>G (n.-194A>G)
c.296A>G (p.Glu99Gly)
11g.71442283T>GCA381694840DHCR7c.392A>C (p.Glu131Ala)
c.218A>C (p.Glu73Ala)
c.428A>C (p.Glu143Ala)
n.669A>C
c.-194A>C (n.-194A>C)
c.296A>C (p.Glu99Ala)
11g.71442284C>ACA381694844DHCR7c.391G>T (p.Glu131Ter)
c.217G>T (p.Glu73Ter)
c.427G>T (p.Glu143Ter)
n.668G>T
c.-195G>T (n.-195G>T)
c.295G>T (p.Glu99Ter)
11g.71442284C=CA1981490213DHCR7c.391G= (p.Glu131=)
c.217G= (p.Glu73=)
c.427G= (p.Glu143=)
n.668G=
c.-195G= (n.-195G=)
c.295G= (p.Glu99=)
11g.71442284C>GCA381694847DHCR7c.391G>C (p.Glu131Gln)
c.217G>C (p.Glu73Gln)
c.427G>C (p.Glu143Gln)
n.668G>C
c.-195G>C (n.-195G>C)
c.295G>C (p.Glu99Gln)
 dbSNP
11g.71442284C>TCA381694849DHCR7c.391G>A (p.Glu131Lys)
c.217G>A (p.Glu73Lys)
c.427G>A (p.Glu143Lys)
n.668G>A
c.-195G>A (n.-195G>A)
c.295G>A (p.Glu99Lys)
11g.71442285C>ACA381694852DHCR7c.390G>T (p.Gln130His)
c.216G>T (p.Gln72His)
c.426G>T (p.Gln142His)
n.667G>T
c.-196G>T (n.-196G>T)
c.294G>T (p.Gln98His)
11g.71442285C>GCA381694855DHCR7c.390G>C (p.Gln130His)
c.216G>C (p.Gln72His)
c.426G>C (p.Gln142His)
n.667G>C
c.-196G>C (n.-196G>C)
c.294G>C (p.Gln98His)
11g.71442285C>TCA475519629DHCR7c.390G>A (p.Gln130=)
c.216G>A (p.Gln72=)
c.426G>A (p.Gln142=)
n.667G>A
c.-196G>A (n.-196G>A)
c.294G>A (p.Gln98=)
11g.71442286T>ACA381694860DHCR7c.389A>T (p.Gln130Leu)
c.215A>T (p.Gln72Leu)
c.425A>T (p.Gln142Leu)
n.666A>T
c.-197A>T (n.-197A>T)
c.293A>T (p.Gln98Leu)
11g.71442286T>CCA381694863DHCR7c.389A>G (p.Gln130Arg)
c.215A>G (p.Gln72Arg)
c.425A>G (p.Gln142Arg)
n.666A>G
c.-197A>G (n.-197A>G)
c.293A>G (p.Gln98Arg)
11g.71442286T>GCA381694858DHCR7c.389A>C (p.Gln130Pro)
c.215A>C (p.Gln72Pro)
c.425A>C (p.Gln142Pro)
n.666A>C
c.-197A>C (n.-197A>C)
c.293A>C (p.Gln98Pro)
11g.71442287G>ACA381694867DHCR7c.388C>T (p.Gln130Ter)
c.214C>T (p.Gln72Ter)
c.424C>T (p.Gln142Ter)
n.665C>T
c.-198C>T (n.-198C>T)
c.292C>T (p.Gln98Ter)
 ClinVar dbSNP
11g.71442287G>CCA381694869DHCR7c.388C>G (p.Gln130Glu)
c.214C>G (p.Gln72Glu)
c.424C>G (p.Gln142Glu)
n.665C>G
c.-198C>G (n.-198C>G)
c.292C>G (p.Gln98Glu)
 gnomAD v4
11g.71442287G=CA1981490214DHCR7c.388C= (p.Gln130=)
c.214C= (p.Gln72=)
c.424C= (p.Gln142=)
n.665C=
c.-198C= (n.-198C=)
c.292C= (p.Gln98=)
11g.71442287G>TCA381694870DHCR7c.388C>A (p.Gln130Lys)
c.214C>A (p.Gln72Lys)
c.424C>A (p.Gln142Lys)
n.665C>A
c.-198C>A (n.-198C>A)
c.292C>A (p.Gln98Lys)
11g.71442288G>ACA475519630DHCR7c.387C>T (p.Ile129=)
c.213C>T (p.Ile71=)
c.423C>T (p.Ile141=)
n.664C>T
c.-199C>T (n.-199C>T)
c.291C>T (p.Ile97=)
 gnomAD v4
11g.71442288G>CCA381694873DHCR7c.387C>G (p.Ile129Met)
c.213C>G (p.Ile71Met)
c.423C>G (p.Ile141Met)
n.664C>G
c.-199C>G (n.-199C>G)
c.291C>G (p.Ile97Met)
 gnomAD v4
11g.71442288G>TCA475519631DHCR7c.387C>A (p.Ile129=)
c.213C>A (p.Ile71=)
c.423C>A (p.Ile141=)
n.664C>A
c.-199C>A (n.-199C>A)
c.291C>A (p.Ile97=)
11g.71442289A=CA1981490215DHCR7c.386T= (p.Ile129=)
c.212T= (p.Ile71=)
c.422T= (p.Ile141=)
n.663T=
c.-200T= (n.-200T=)
c.290T= (p.Ile97=)
11g.71442289A>CCA381694876DHCR7c.386T>G (p.Ile129Ser)
c.212T>G (p.Ile71Ser)
c.422T>G (p.Ile141Ser)
n.663T>G
c.-200T>G (n.-200T>G)
c.290T>G (p.Ile97Ser)
11g.71442289A>GCA6162595DHCR7c.386T>C (p.Ile129Thr)
c.212T>C (p.Ile71Thr)
c.422T>C (p.Ile141Thr)
n.663T>C
c.-200T>C (n.-200T>C)
c.290T>C (p.Ile97Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.71442289A>TCA381694880DHCR7c.386T>A (p.Ile129Asn)
c.212T>A (p.Ile71Asn)
c.422T>A (p.Ile141Asn)
n.663T>A
c.-200T>A (n.-200T>A)
c.290T>A (p.Ile97Asn)
11g.71442290T>ACA381694884DHCR7c.385A>T (p.Ile129Phe)
c.211A>T (p.Ile71Phe)
c.421A>T (p.Ile141Phe)
n.662A>T
c.-201A>T (n.-201A>T)
c.289A>T (p.Ile97Phe)
11g.71442290T>CCA6162596DHCR7c.385A>G (p.Ile129Val)
c.211A>G (p.Ile71Val)
c.421A>G (p.Ile141Val)
n.662A>G
c.-201A>G (n.-201A>G)
c.289A>G (p.Ile97Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71442290T>GCA224280104DHCR7c.385A>C (p.Ile129Leu)
c.211A>C (p.Ile71Leu)
c.421A>C (p.Ile141Leu)
n.662A>C
c.-201A>C (n.-201A>C)
c.289A>C (p.Ile97Leu)
 dbSNP
11g.71442290T=CA1981490216DHCR7c.385A= (p.Ile129=)
c.211A= (p.Ile71=)
c.421A= (p.Ile141=)
n.662A=
c.-201A= (n.-201A=)
c.289A= (p.Ile97=)
11g.71442291G>ACA6162597DHCR7c.384C>T (p.Gly128=)
c.210C>T (p.Gly70=)
c.420C>T (p.Gly140=)
n.661C>T
c.-202C>T (n.-202C>T)
c.288C>T (p.Gly96=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.71442291G>CCA475519632DHCR7c.384C>G (p.Gly128=)
c.210C>G (p.Gly70=)
c.420C>G (p.Gly140=)
n.661C>G
c.-202C>G (n.-202C>G)
c.288C>G (p.Gly96=)
11g.71442291G=CA1981490217DHCR7c.384C= (p.Gly128=)
c.210C= (p.Gly70=)
c.420C= (p.Gly140=)
n.661C=
c.-202C= (n.-202C=)
c.288C= (p.Gly96=)
11g.71442291G>TCA475519633DHCR7c.384C>A (p.Gly128=)
c.210C>A (p.Gly70=)
c.420C>A (p.Gly140=)
n.661C>A
c.-202C>A (n.-202C>A)
c.288C>A (p.Gly96=)
11g.71442292C>ACA381694893DHCR7c.383G>T (p.Gly128Val)
c.209G>T (p.Gly70Val)
c.419G>T (p.Gly140Val)
n.660G>T
c.-203G>T (n.-203G>T)
c.287G>T (p.Gly96Val)
 dbSNP
11g.71442292C=CA1981490218DHCR7c.383G= (p.Gly128=)
c.209G= (p.Gly70=)
c.419G= (p.Gly140=)
n.660G=
c.-203G= (n.-203G=)
c.287G= (p.Gly96=)
11g.71442292C>GCA381694894DHCR7c.383G>C (p.Gly128Ala)
c.209G>C (p.Gly70Ala)
c.419G>C (p.Gly140Ala)
n.660G>C
c.-203G>C (n.-203G>C)
c.287G>C (p.Gly96Ala)
11g.71442292C>TCA381694896DHCR7c.383G>A (p.Gly128Asp)
c.209G>A (p.Gly70Asp)
c.419G>A (p.Gly140Asp)
n.660G>A
c.-203G>A (n.-203G>A)
c.287G>A (p.Gly96Asp)
 dbSNP gnomAD v2 gnomAD v4
11g.71442293C>ACA381694899DHCR7c.382G>T (p.Gly128Cys)
c.208G>T (p.Gly70Cys)
c.418G>T (p.Gly140Cys)
n.659G>T
c.-204G>T (n.-204G>T)
c.286G>T (p.Gly96Cys)
11g.71442293C=CA1981490219DHCR7c.382G= (p.Gly128=)
c.208G= (p.Gly70=)
c.418G= (p.Gly140=)
n.659G=
c.-204G= (n.-204G=)
c.286G= (p.Gly96=)
11g.71442293C>GCA381694903DHCR7c.382G>C (p.Gly128Arg)
c.208G>C (p.Gly70Arg)
c.418G>C (p.Gly140Arg)
n.659G>C
c.-204G>C (n.-204G>C)
c.286G>C (p.Gly96Arg)
11g.71442293C>TCA381694901DHCR7c.382G>A (p.Gly128Ser)
c.208G>A (p.Gly70Ser)
c.418G>A (p.Gly140Ser)
n.659G>A
c.-204G>A (n.-204G>A)
c.286G>A (p.Gly96Ser)
 dbSNP gnomAD v4
11g.71442294T>ACA475519634DHCR7c.381A>T (p.Gly127=)
c.207A>T (p.Gly69=)
c.417A>T (p.Gly139=)
n.658A>T
c.-205A>T (n.-205A>T)
c.285A>T (p.Gly95=)
11g.71442294T>CCA475519635DHCR7c.381A>G (p.Gly127=)
c.207A>G (p.Gly69=)
c.417A>G (p.Gly139=)
n.658A>G
c.-205A>G (n.-205A>G)
c.285A>G (p.Gly95=)
 ClinVar
11g.71442294T>GCA475519636DHCR7c.381A>C (p.Gly127=)
c.207A>C (p.Gly69=)
c.417A>C (p.Gly139=)
n.658A>C
c.-205A>C (n.-205A>C)
c.285A>C (p.Gly95=)
11g.71442295C>ACA381694905DHCR7c.380G>T (p.Gly127Val)
c.206G>T (p.Gly69Val)
c.416G>T (p.Gly139Val)
n.657G>T
c.-206G>T (n.-206G>T)
c.284G>T (p.Gly95Val)
11g.71442295C=CA1981490220DHCR7c.380G= (p.Gly127=)
c.206G= (p.Gly69=)
c.416G= (p.Gly139=)
n.657G=
c.-206G= (n.-206G=)
c.284G= (p.Gly95=)
11g.71442295C>GCA381694907DHCR7c.380G>C (p.Gly127Ala)
c.206G>C (p.Gly69Ala)
c.416G>C (p.Gly139Ala)
n.657G>C
c.-206G>C (n.-206G>C)
c.284G>C (p.Gly95Ala)
11g.71442295C>TCA381694908DHCR7c.380G>A (p.Gly127Glu)
c.206G>A (p.Gly69Glu)
c.416G>A (p.Gly139Glu)
n.657G>A
c.-206G>A (n.-206G>A)
c.284G>A (p.Gly95Glu)
 dbSNP gnomAD v4
11g.71442296C>ACA381694912DHCR7c.379G>T (p.Gly127Ter)
c.205G>T (p.Gly69Ter)
c.415G>T (p.Gly139Ter)
n.656G>T
c.-207G>T (n.-207G>T)
c.283G>T (p.Gly95Ter)
11g.71442296C>GCA381694915DHCR7c.379G>C (p.Gly127Arg)
c.205G>C (p.Gly69Arg)
c.415G>C (p.Gly139Arg)
n.656G>C
c.-207G>C (n.-207G>C)
c.283G>C (p.Gly95Arg)
11g.71442296C>TCA381694918DHCR7c.379G>A (p.Gly127Arg)
c.205G>A (p.Gly69Arg)
c.415G>A (p.Gly139Arg)
n.656G>A
c.-207G>A (n.-207G>A)
c.283G>A (p.Gly95Arg)
 gnomAD v4
11g.71442297T>ACA475519637DHCR7c.378A>T (p.Val126=)
c.204A>T (p.Val68=)
c.414A>T (p.Val138=)
n.655A>T
c.-208A>T (n.-208A>T)
c.282A>T (p.Val94=)
11g.71442297T>CCA475519638DHCR7c.378A>G (p.Val126=)
c.204A>G (p.Val68=)
c.414A>G (p.Val138=)
n.655A>G
c.-208A>G (n.-208A>G)
c.282A>G (p.Val94=)
 ClinVar
11g.71442297T>GCA475519639DHCR7c.378A>C (p.Val126=)
c.204A>C (p.Val68=)
c.414A>C (p.Val138=)
n.655A>C
c.-208A>C (n.-208A>C)
c.282A>C (p.Val94=)
 dbSNP gnomAD v2 gnomAD v4
11g.71442297T=CA1981490221DHCR7c.378A= (p.Val126=)
c.204A= (p.Val68=)
c.414A= (p.Val138=)
n.655A=
c.-208A= (n.-208A=)
c.282A= (p.Val94=)
11g.71442298A>CCA381694922DHCR7c.377T>G (p.Val126Gly)
c.203T>G (p.Val68Gly)
c.413T>G (p.Val138Gly)
n.654T>G
c.-209T>G (n.-209T>G)
c.281T>G (p.Val94Gly)
11g.71442298A>GCA381694924DHCR7c.377T>C (p.Val126Ala)
c.203T>C (p.Val68Ala)
c.413T>C (p.Val138Ala)
n.654T>C
c.-209T>C (n.-209T>C)
c.281T>C (p.Val94Ala)
11g.71442298A>TCA381694926DHCR7c.377T>A (p.Val126Glu)
c.203T>A (p.Val68Glu)
c.413T>A (p.Val138Glu)
n.654T>A
c.-209T>A (n.-209T>A)
c.281T>A (p.Val94Glu)
11g.71442299C>ACA381694928DHCR7c.376G>T (p.Val126Leu)
c.202G>T (p.Val68Leu)
c.412G>T (p.Val138Leu)
n.653G>T
c.-210G>T (n.-210G>T)
c.280G>T (p.Val94Leu)
11g.71442299C=CA1981490222DHCR7c.376G= (p.Val126=)
c.202G= (p.Val68=)
c.412G= (p.Val138=)
n.653G=
c.-210G= (n.-210G=)
c.280G= (p.Val94=)
11g.71442299C>GCA381694930DHCR7c.376G>C (p.Val126Leu)
c.202G>C (p.Val68Leu)
c.412G>C (p.Val138Leu)
n.653G>C
c.-210G>C (n.-210G>C)
c.280G>C (p.Val94Leu)
11g.71442299C>TCA246030DHCR7c.376G>A (p.Val126Ile)
c.202G>A (p.Val68Ile)
c.412G>A (p.Val138Ile)
n.653G>A
c.-210G>A (n.-210G>A)
c.280G>A (p.Val94Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71442300G>ACA6162599DHCR7c.375C>T (p.Tyr125=)
c.201C>T (p.Tyr67=)
c.411C>T (p.Tyr137=)
n.652C>T
c.-211C>T (n.-211C>T)
c.279C>T (p.Tyr93=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71442300G>CCA381694936DHCR7c.375C>G (p.Tyr125Ter)
c.201C>G (p.Tyr67Ter)
c.411C>G (p.Tyr137Ter)
n.652C>G
c.-211C>G (n.-211C>G)
c.279C>G (p.Tyr93Ter)
 ClinVar
11g.71442300G=CA1981490224DHCR7c.375C= (p.Tyr125=)
c.201C= (p.Tyr67=)
c.411C= (p.Tyr137=)
n.652C=
c.-211C= (n.-211C=)
c.279C= (p.Tyr93=)
11g.71442300G>TCA381694934DHCR7c.375C>A (p.Tyr125Ter)
c.201C>A (p.Tyr67Ter)
c.411C>A (p.Tyr137Ter)
n.652C>A
c.-211C>A (n.-211C>A)
c.279C>A (p.Tyr93Ter)
 ClinVar
11g.71442300_71442316delinsGTAGCCGGGTAGAAACTCA1981490223DHCR7c.359_375delinsAGTTTCTACCCGGCTAC (p.Lys120=)
c.185_201delinsAGTTTCTACCCGGCTAC (p.Lys62=)
c.395_411delinsAGTTTCTACCCGGCTAC (p.Lys132=)
n.636_652delinsAGTTTCTACCCGGCTAC
c.-227_-211delinsAGTTTCTACCCGGCTAC (n.-227_-211delinsAGTTTCTACCCGGCTAC)
c.263_279delinsAGTTTCTACCCGGCTAC (p.Lys88=)
11g.71442301T>ACA381694938DHCR7c.374A>T (p.Tyr125Phe)
c.200A>T (p.Tyr67Phe)
c.410A>T (p.Tyr137Phe)
n.651A>T
c.-212A>T (n.-212A>T)
c.278A>T (p.Tyr93Phe)
11g.71442301T>CCA381694941DHCR7c.374A>G (p.Tyr125Cys)
c.200A>G (p.Tyr67Cys)
c.410A>G (p.Tyr137Cys)
n.651A>G
c.-212A>G (n.-212A>G)
c.278A>G (p.Tyr93Cys)
 ClinVar dbSNP
11g.71442301T>GCA381694943DHCR7c.374A>C (p.Tyr125Ser)
c.200A>C (p.Tyr67Ser)
c.410A>C (p.Tyr137Ser)
n.651A>C
c.-212A>C (n.-212A>C)
c.278A>C (p.Tyr93Ser)
11g.71442303_71442318delCA6162598DHCR7c.359_374del (p.Lys120ThrfsTer2)
c.185_200del (p.Lys62ThrfsTer2)
c.395_410del (p.Lys132ThrfsTer2)
n.636_651del
c.-227_-212del (n.-227_-212del)
c.263_278del (p.Lys88ThrfsTer2)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.71442302A=CA1981490225DHCR7c.373T= (p.Tyr125=)
c.199T= (p.Tyr67=)
c.409T= (p.Tyr137=)
n.650T=
c.-213T= (n.-213T=)
c.277T= (p.Tyr93=)
11g.71442302A>CCA381694946DHCR7c.373T>G (p.Tyr125Asp)
c.199T>G (p.Tyr67Asp)
c.409T>G (p.Tyr137Asp)
n.650T>G
c.-213T>G (n.-213T>G)
c.277T>G (p.Tyr93Asp)
11g.71442302A>GCA381694948DHCR7c.373T>C (p.Tyr125His)
c.199T>C (p.Tyr67His)
c.409T>C (p.Tyr137His)
n.650T>C
c.-213T>C (n.-213T>C)
c.277T>C (p.Tyr93His)
 ClinVar dbSNP
11g.71442302A>TCA381694950DHCR7c.373T>A (p.Tyr125Asn)
c.199T>A (p.Tyr67Asn)
c.409T>A (p.Tyr137Asn)
n.650T>A
c.-213T>A (n.-213T>A)
c.277T>A (p.Tyr93Asn)
11g.71442303G>ACA475519641DHCR7c.372C>T (p.Gly124=)
c.198C>T (p.Gly66=)
c.408C>T (p.Gly136=)
n.649C>T
c.-214C>T (n.-214C>T)
c.276C>T (p.Gly92=)
11g.71442303G>CCA475519642DHCR7c.372C>G (p.Gly124=)
c.198C>G (p.Gly66=)
c.408C>G (p.Gly136=)
n.649C>G
c.-214C>G (n.-214C>G)
c.276C>G (p.Gly92=)
11g.71442303G>TCA475519643DHCR7c.372C>A (p.Gly124=)
c.198C>A (p.Gly66=)
c.408C>A (p.Gly136=)
n.649C>A
c.-214C>A (n.-214C>A)
c.276C>A (p.Gly92=)
11g.71442304C>ACA381694953DHCR7c.371G>T (p.Gly124Val)
c.197G>T (p.Gly66Val)
c.407G>T (p.Gly136Val)
n.648G>T
c.-215G>T (n.-215G>T)
c.275G>T (p.Gly92Val)
11g.71442304C>GCA381694954DHCR7c.371G>C (p.Gly124Ala)
c.197G>C (p.Gly66Ala)
c.407G>C (p.Gly136Ala)
n.648G>C
c.-215G>C (n.-215G>C)
c.275G>C (p.Gly92Ala)
 gnomAD v4
11g.71442304C>TCA381694957DHCR7c.371G>A (p.Gly124Asp)
c.197G>A (p.Gly66Asp)
c.407G>A (p.Gly136Asp)
n.648G>A
c.-215G>A (n.-215G>A)
c.275G>A (p.Gly92Asp)
11g.71442305C>ACA381694961DHCR7c.370G>T (p.Gly124Cys)
c.196G>T (p.Gly66Cys)
c.406G>T (p.Gly136Cys)
n.647G>T
c.-216G>T (n.-216G>T)
c.274G>T (p.Gly92Cys)
11g.71442305C=CA1981490226DHCR7c.370G= (p.Gly124=)
c.196G= (p.Gly66=)
c.406G= (p.Gly136=)
n.647G=
c.-216G= (n.-216G=)
c.274G= (p.Gly92=)
11g.71442305C>GCA6162600DHCR7c.370G>C (p.Gly124Arg)
c.196G>C (p.Gly66Arg)
c.406G>C (p.Gly136Arg)
n.647G>C
c.-216G>C (n.-216G>C)
c.274G>C (p.Gly92Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71442305C>TCA224280112DHCR7c.370G>A (p.Gly124Ser)
c.196G>A (p.Gly66Ser)
c.406G>A (p.Gly136Ser)
n.647G>A
c.-216G>A (n.-216G>A)
c.274G>A (p.Gly92Ser)
 dbSNP gnomAD v3 gnomAD v4
11g.71442306G>ACA6162601DHCR7c.369C>T (p.Pro123=)
c.195C>T (p.Pro65=)
c.405C>T (p.Pro135=)
n.646C>T
c.-217C>T (n.-217C>T)
c.273C>T (p.Pro91=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71442306G>CCA6162602DHCR7c.369C>G (p.Pro123=)
c.195C>G (p.Pro65=)
c.405C>G (p.Pro135=)
n.646C>G
c.-217C>G (n.-217C>G)
c.273C>G (p.Pro91=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71442306G=CA1981490227DHCR7c.369C= (p.Pro123=)
c.195C= (p.Pro65=)
c.405C= (p.Pro135=)
n.646C=
c.-217C= (n.-217C=)
c.273C= (p.Pro91=)
11g.71442306G>TCA475519644DHCR7c.369C>A (p.Pro123=)
c.195C>A (p.Pro65=)
c.405C>A (p.Pro135=)
n.646C>A
c.-217C>A (n.-217C>A)
c.273C>A (p.Pro91=)
 ClinVar
11g.71442307G>ACA381694968DHCR7c.368C>T (p.Pro123Leu)
c.194C>T (p.Pro65Leu)
c.404C>T (p.Pro135Leu)
n.645C>T
c.-218C>T (n.-218C>T)
c.272C>T (p.Pro91Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71442307G>CCA381694970DHCR7c.368C>G (p.Pro123Arg)
c.194C>G (p.Pro65Arg)
c.404C>G (p.Pro135Arg)
n.645C>G
c.-218C>G (n.-218C>G)
c.272C>G (p.Pro91Arg)
11g.71442307G=CA1981490228DHCR7c.368C= (p.Pro123=)
c.194C= (p.Pro65=)
c.404C= (p.Pro135=)
n.645C=
c.-218C= (n.-218C=)
c.272C= (p.Pro91=)
11g.71442307G>TCA381694972DHCR7c.368C>A (p.Pro123His)
c.194C>A (p.Pro65His)
c.404C>A (p.Pro135His)
n.645C>A
c.-218C>A (n.-218C>A)
c.272C>A (p.Pro91His)
11g.71442309_71442321delCA658820690DHCR7c.356_368del (p.His119ProfsTer4)
c.182_194del (p.His61ProfsTer4)
c.392_404del (p.His131ProfsTer4)
n.633_645del
c.-230_-218del (n.-230_-218del)
c.260_272del (p.His87ProfsTer4)
11g.71442308G>ACA381694975DHCR7c.367C>T (p.Pro123Ser)
c.193C>T (p.Pro65Ser)
c.403C>T (p.Pro135Ser)
n.644C>T
c.-219C>T (n.-219C>T)
c.271C>T (p.Pro91Ser)
 dbSNP
11g.71442308G>CCA381694977DHCR7c.367C>G (p.Pro123Ala)
c.193C>G (p.Pro65Ala)
c.403C>G (p.Pro135Ala)
n.644C>G
c.-219C>G (n.-219C>G)
c.271C>G (p.Pro91Ala)
11g.71442308G>TCA381694979DHCR7c.367C>A (p.Pro123Thr)
c.193C>A (p.Pro65Thr)
c.403C>A (p.Pro135Thr)
n.644C>A
c.-219C>A (n.-219C>A)
c.271C>A (p.Pro91Thr)
11g.71442309T>ACA475519647DHCR7c.366A>T (p.Leu122=)
c.192A>T (p.Leu64=)
c.402A>T (p.Leu134=)
n.643A>T
c.-220A>T (n.-220A>T)
c.270A>T (p.Leu90=)
11g.71442309T>CCA475519648DHCR7c.366A>G (p.Leu122=)
c.192A>G (p.Leu64=)
c.402A>G (p.Leu134=)
n.643A>G
c.-220A>G (n.-220A>G)
c.270A>G (p.Leu90=)
11g.71442309T>GCA475519649DHCR7c.366A>C (p.Leu122=)
c.192A>C (p.Leu64=)
c.402A>C (p.Leu134=)
n.643A>C
c.-220A>C (n.-220A>C)
c.270A>C (p.Leu90=)
11g.71442310A>CCA381694981DHCR7c.365T>G (p.Leu122Arg)
c.191T>G (p.Leu64Arg)
c.401T>G (p.Leu134Arg)
n.642T>G
c.-221T>G (n.-221T>G)
c.269T>G (p.Leu90Arg)
11g.71442310A>GCA381694984DHCR7c.365T>C (p.Leu122Pro)
c.191T>C (p.Leu64Pro)
c.401T>C (p.Leu134Pro)
n.642T>C
c.-221T>C (n.-221T>C)
c.269T>C (p.Leu90Pro)
11g.71442310A>TCA381694986DHCR7c.365T>A (p.Leu122Gln)
c.191T>A (p.Leu64Gln)
c.401T>A (p.Leu134Gln)
n.642T>A
c.-221T>A (n.-221T>A)
c.269T>A (p.Leu90Gln)
11g.71442311G>ACA475519650DHCR7c.364C>T (p.Leu122=)
c.190C>T (p.Leu64=)
c.400C>T (p.Leu134=)
n.641C>T
c.-222C>T (n.-222C>T)
c.268C>T (p.Leu90=)
 dbSNP gnomAD v2 gnomAD v4
11g.71442311G>CCA381694994DHCR7c.364C>G (p.Leu122Val)
c.190C>G (p.Leu64Val)
c.400C>G (p.Leu134Val)
n.641C>G
c.-222C>G (n.-222C>G)
c.268C>G (p.Leu90Val)
11g.71442311G=CA1981490229DHCR7c.364C= (p.Leu122=)
c.190C= (p.Leu64=)
c.400C= (p.Leu134=)
n.641C=
c.-222C= (n.-222C=)
c.268C= (p.Leu90=)
11g.71442311G>TCA381694997DHCR7c.364C>A (p.Leu122Ile)
c.190C>A (p.Leu64Ile)
c.400C>A (p.Leu134Ile)
n.641C>A
c.-222C>A (n.-222C>A)
c.268C>A (p.Leu90Ile)
11g.71442312A>CCA381694998DHCR7c.363T>G (p.Phe121Leu)
c.189T>G (p.Phe63Leu)
c.399T>G (p.Phe133Leu)
n.640T>G
c.-223T>G (n.-223T>G)
c.267T>G (p.Phe89Leu)
11g.71442312A>GCA475519651DHCR7c.363T>C (p.Phe121=)
c.189T>C (p.Phe63=)
c.399T>C (p.Phe133=)
n.640T>C
c.-223T>C (n.-223T>C)
c.267T>C (p.Phe89=)
11g.71442312A>TCA381695000DHCR7c.363T>A (p.Phe121Leu)
c.189T>A (p.Phe63Leu)
c.399T>A (p.Phe133Leu)
n.640T>A
c.-223T>A (n.-223T>A)
c.267T>A (p.Phe89Leu)
11g.71442313A>CCA381695004DHCR7c.362T>G (p.Phe121Cys)
c.188T>G (p.Phe63Cys)
c.398T>G (p.Phe133Cys)
n.639T>G
c.-224T>G (n.-224T>G)
c.266T>G (p.Phe89Cys)
11g.71442313A>GCA381695006DHCR7c.362T>C (p.Phe121Ser)
c.188T>C (p.Phe63Ser)
c.398T>C (p.Phe133Ser)
n.639T>C
c.-224T>C (n.-224T>C)
c.266T>C (p.Phe89Ser)
11g.71442313A>TCA381695002DHCR7c.362T>A (p.Phe121Tyr)
c.188T>A (p.Phe63Tyr)
c.398T>A (p.Phe133Tyr)
n.639T>A
c.-224T>A (n.-224T>A)
c.266T>A (p.Phe89Tyr)
11g.71442314A>CCA381695010DHCR7c.361T>G (p.Phe121Val)
c.187T>G (p.Phe63Val)
c.397T>G (p.Phe133Val)
n.638T>G
c.-225T>G (n.-225T>G)
c.265T>G (p.Phe89Val)
11g.71442314A>GCA381695012DHCR7c.361T>C (p.Phe121Leu)
c.187T>C (p.Phe63Leu)
c.397T>C (p.Phe133Leu)
n.638T>C
c.-225T>C (n.-225T>C)
c.265T>C (p.Phe89Leu)
11g.71442314A>TCA381695014DHCR7c.361T>A (p.Phe121Ile)
c.187T>A (p.Phe63Ile)
c.397T>A (p.Phe133Ile)
n.638T>A
c.-225T>A (n.-225T>A)
c.265T>A (p.Phe89Ile)
11g.71442315C>ACA381695017DHCR7c.360G>T (p.Lys120Asn)
c.186G>T (p.Lys62Asn)
c.396G>T (p.Lys132Asn)
n.637G>T
c.-226G>T (n.-226G>T)
c.264G>T (p.Lys88Asn)
11g.71442315C=CA1981490230DHCR7c.360G= (p.Lys120=)
c.186G= (p.Lys62=)
c.396G= (p.Lys132=)
n.637G=
c.-226G= (n.-226G=)
c.264G= (p.Lys88=)
11g.71442315C>GCA381695020DHCR7c.360G>C (p.Lys120Asn)
c.186G>C (p.Lys62Asn)
c.396G>C (p.Lys132Asn)
n.637G>C
c.-226G>C (n.-226G>C)
c.264G>C (p.Lys88Asn)
11g.71442315C>TCA6162603DHCR7c.360G>A (p.Lys120=)
c.186G>A (p.Lys62=)
c.396G>A (p.Lys132=)
n.637G>A
c.-226G>A (n.-226G>A)
c.264G>A (p.Lys88=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71442316T>ACA381695025DHCR7c.359A>T (p.Lys120Met)
c.185A>T (p.Lys62Met)
c.395A>T (p.Lys132Met)
n.636A>T
c.-227A>T (n.-227A>T)
c.263A>T (p.Lys88Met)
11g.71442316T>CCA381695021DHCR7c.359A>G (p.Lys120Arg)
c.185A>G (p.Lys62Arg)
c.395A>G (p.Lys132Arg)
n.636A>G
c.-227A>G (n.-227A>G)
c.263A>G (p.Lys88Arg)
11g.71442316T>GCA381695022DHCR7c.359A>C (p.Lys120Thr)
c.185A>C (p.Lys62Thr)
c.395A>C (p.Lys132Thr)
n.636A>C
c.-227A>C (n.-227A>C)
c.263A>C (p.Lys88Thr)
11g.71442317dupCA600039624DHCR7c.359dup (p.Phe121ValfsTer?)
c.185dup (p.Phe63ValfsTer?)
c.395dup (p.Phe133ValfsTer?)
n.636dup
c.-227dup (n.-227dup)
c.263dup (p.Phe89ValfsTer?)
 dbSNP gnomAD v2 gnomAD v4
11g.71442317T>ACA381695027DHCR7c.358A>T (p.Lys120Ter)
c.184A>T (p.Lys62Ter)
c.394A>T (p.Lys132Ter)
n.635A>T
c.-228A>T (n.-228A>T)
c.262A>T (p.Lys88Ter)
11g.71442317T>CCA6162604DHCR7c.358A>G (p.Lys120Glu)
c.184A>G (p.Lys62Glu)
c.394A>G (p.Lys132Glu)
n.635A>G
c.-228A>G (n.-228A>G)
c.262A>G (p.Lys88Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.71442317T>GCA381695030DHCR7c.358A>C (p.Lys120Gln)
c.184A>C (p.Lys62Gln)
c.394A>C (p.Lys132Gln)
n.635A>C
c.-228A>C (n.-228A>C)
c.262A>C (p.Lys88Gln)
11g.71442317T=CA1981490231DHCR7c.358A= (p.Lys120=)
c.184A= (p.Lys62=)
c.394A= (p.Lys132=)
n.635A=
c.-228A= (n.-228A=)
c.262A= (p.Lys88=)
11g.71442318A=CA1981490232DHCR7c.357T= (p.His119=)
c.183T= (p.His61=)
c.393T= (p.His131=)
n.634T=
c.-229T= (n.-229T=)
c.261T= (p.His87=)
11g.71442318A>CCA381695032DHCR7c.357T>G (p.His119Gln)
c.183T>G (p.His61Gln)
c.393T>G (p.His131Gln)
n.634T>G
c.-229T>G (n.-229T>G)
c.261T>G (p.His87Gln)
11g.71442318A>GCA475519654DHCR7c.357T>C (p.His119=)
c.183T>C (p.His61=)
c.393T>C (p.His131=)
n.634T>C
c.-229T>C (n.-229T>C)
c.261T>C (p.His87=)
 dbSNP gnomAD v3 gnomAD v4
11g.71442318A>TCA381695033DHCR7c.357T>A (p.His119Gln)
c.183T>A (p.His61Gln)
c.393T>A (p.His131Gln)
n.634T>A
c.-229T>A (n.-229T>A)
c.261T>A (p.His87Gln)
11g.71442319T>ACA253936DHCR7c.356A>T (p.His119Leu)
c.182A>T (p.His61Leu)
c.392A>T (p.His131Leu)
n.633A>T
c.-230A>T (n.-230A>T)
c.260A>T (p.His87Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71442319T>CCA6162605DHCR7c.356A>G (p.His119Arg)
c.182A>G (p.His61Arg)
c.392A>G (p.His131Arg)
n.633A>G
c.-230A>G (n.-230A>G)
c.260A>G (p.His87Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71442319T>GCA381695037DHCR7c.356A>C (p.His119Pro)
c.182A>C (p.His61Pro)
c.392A>C (p.His131Pro)
n.633A>C
c.-230A>C (n.-230A>C)
c.260A>C (p.His87Pro)
11g.71442319T=CA1981490233DHCR7c.356A= (p.His119=)
c.182A= (p.His61=)
c.392A= (p.His131=)
n.633A=
c.-230A= (n.-230A=)
c.260A= (p.His87=)
11g.71442319_71442320delinsTGCA1981490234DHCR7c.355_356delinsCA (p.His119=)
c.181_182delinsCA (p.His61=)
c.391_392delinsCA (p.His131=)
n.632_633delinsCA
c.-231_-230delinsCA (n.-231_-230delinsCA)
c.259_260delinsCA (p.His87=)
11g.71442320G>ACA381695042DHCR7c.355C>T (p.His119Tyr)
c.181C>T (p.His61Tyr)
c.391C>T (p.His131Tyr)
n.632C>T
c.-231C>T (n.-231C>T)
c.259C>T (p.His87Tyr)
 dbSNP gnomAD v2 gnomAD v4
11g.71442320G>CCA381695044DHCR7c.355C>G (p.His119Asp)
c.181C>G (p.His61Asp)
c.391C>G (p.His131Asp)
n.632C>G
c.-231C>G (n.-231C>G)
c.259C>G (p.His87Asp)
 COSMIC COSMIC
11g.71442320G=CA1981490235DHCR7c.355C= (p.His119=)
c.181C= (p.His61=)
c.391C= (p.His131=)
n.632C=
c.-231C= (n.-231C=)
c.259C= (p.His87=)
11g.71442320G>TCA381695045DHCR7c.355C>A (p.His119Asn)
c.181C>A (p.His61Asn)
c.391C>A (p.His131Asn)
n.632C>A
c.-231C>A (n.-231C>A)
c.259C>A (p.His87Asn)
11g.71442321delCA6162606DHCR7c.355del (p.His119IlefsTer8)
c.181del (p.His61IlefsTer8)
c.391del (p.His131IlefsTer8)
n.632del
c.-231del (n.-231del)
c.259del (p.His87IlefsTer8)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71442321G>ACA475519656DHCR7c.354C>T (p.Cys118=)
c.180C>T (p.Cys60=)
c.390C>T (p.Cys130=)
n.631C>T
c.-232C>T (n.-232C>T)
c.258C>T (p.Cys86=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.71442321G>CCA381695049DHCR7c.354C>G (p.Cys118Trp)
c.180C>G (p.Cys60Trp)
c.390C>G (p.Cys130Trp)
n.631C>G
c.-232C>G (n.-232C>G)
c.258C>G (p.Cys86Trp)
11g.71442321G=CA1981490236DHCR7c.354C= (p.Cys118=)
c.180C= (p.Cys60=)
c.390C= (p.Cys130=)
n.631C=
c.-232C= (n.-232C=)
c.258C= (p.Cys86=)
11g.71442321G>TCA381695051DHCR7c.354C>A (p.Cys118Ter)
c.180C>A (p.Cys60Ter)
c.390C>A (p.Cys130Ter)
n.631C>A
c.-232C>A (n.-232C>A)
c.258C>A (p.Cys86Ter)
11g.71442322C>ACA381695063DHCR7c.353G>T (p.Cys118Phe)
c.179G>T (p.Cys60Phe)
c.389G>T (p.Cys130Phe)
n.630G>T
c.-233G>T (n.-233G>T)
c.257G>T (p.Cys86Phe)
11g.71442322C>GCA381695054DHCR7c.353G>C (p.Cys118Ser)
c.179G>C (p.Cys60Ser)
c.389G>C (p.Cys130Ser)
n.630G>C
c.-233G>C (n.-233G>C)
c.257G>C (p.Cys86Ser)
11g.71442322C>TCA381695056DHCR7c.353G>A (p.Cys118Tyr)
c.179G>A (p.Cys60Tyr)
c.389G>A (p.Cys130Tyr)
n.630G>A
c.-233G>A (n.-233G>A)
c.257G>A (p.Cys86Tyr)
 ClinVar
11g.71442323A>CCA381695067DHCR7c.352T>G (p.Cys118Gly)
c.178T>G (p.Cys60Gly)
c.388T>G (p.Cys130Gly)
n.629T>G
c.-234T>G (n.-234T>G)
c.256T>G (p.Cys86Gly)
11g.71442323A>GCA381695068DHCR7c.352T>C (p.Cys118Arg)
c.178T>C (p.Cys60Arg)
c.388T>C (p.Cys130Arg)
n.629T>C
c.-234T>C (n.-234T>C)
c.256T>C (p.Cys86Arg)
11g.71442323A>TCA381695070DHCR7c.352T>A (p.Cys118Ser)
c.178T>A (p.Cys60Ser)
c.388T>A (p.Cys130Ser)
n.629T>A
c.-234T>A (n.-234T>A)
c.256T>A (p.Cys86Ser)
11g.71442324G>ACA475519657DHCR7c.351C>T (p.Phe117=)
c.177C>T (p.Phe59=)
c.387C>T (p.Phe129=)
n.628C>T
c.-235C>T (n.-235C>T)
c.255C>T (p.Phe85=)
 gnomAD v4
11g.71442324G>CCA381695073DHCR7c.351C>G (p.Phe117Leu)
c.177C>G (p.Phe59Leu)
c.387C>G (p.Phe129Leu)
n.628C>G
c.-235C>G (n.-235C>G)
c.255C>G (p.Phe85Leu)
11g.71442324G>TCA381695075DHCR7c.351C>A (p.Phe117Leu)
c.177C>A (p.Phe59Leu)
c.387C>A (p.Phe129Leu)
n.628C>A
c.-235C>A (n.-235C>A)
c.255C>A (p.Phe85Leu)
11g.71442325A>CCA381695081DHCR7c.350T>G (p.Phe117Cys)
c.176T>G (p.Phe59Cys)
c.386T>G (p.Phe129Cys)
n.627T>G
c.-236T>G (n.-236T>G)
c.254T>G (p.Phe85Cys)
11g.71442325A>GCA381695083DHCR7c.350T>C (p.Phe117Ser)
c.176T>C (p.Phe59Ser)
c.386T>C (p.Phe129Ser)
n.627T>C
c.-236T>C (n.-236T>C)
c.254T>C (p.Phe85Ser)
11g.71442325A>TCA381695082DHCR7c.350T>A (p.Phe117Tyr)
c.176T>A (p.Phe59Tyr)
c.386T>A (p.Phe129Tyr)
n.627T>A
c.-236T>A (n.-236T>A)
c.254T>A (p.Phe85Tyr)
11g.71442326A>CCA381695086DHCR7c.349T>G (p.Phe117Val)
c.175T>G (p.Phe59Val)
c.385T>G (p.Phe129Val)
n.626T>G
c.-237T>G (n.-237T>G)
c.253T>G (p.Phe85Val)
11g.71442326A>GCA381695088DHCR7c.349T>C (p.Phe117Leu)
c.175T>C (p.Phe59Leu)
c.385T>C (p.Phe129Leu)
n.626T>C
c.-237T>C (n.-237T>C)
c.253T>C (p.Phe85Leu)
11g.71442326A>TCA381695090DHCR7c.349T>A (p.Phe117Ile)
c.175T>A (p.Phe59Ile)
c.385T>A (p.Phe129Ile)
n.626T>A
c.-237T>A (n.-237T>A)
c.253T>A (p.Phe85Ile)
 gnomAD v4
11g.71442327G>ACA224280136DHCR7c.348C>T (p.Asp116=)
c.174C>T (p.Asp58=)
c.384C>T (p.Asp128=)
n.625C>T
c.-238C>T (n.-238C>T)
c.252C>T (p.Asp84=)
 ClinVar dbSNP gnomAD v4
11g.71442327G>CCA381695095DHCR7c.348C>G (p.Asp116Glu)
c.174C>G (p.Asp58Glu)
c.384C>G (p.Asp128Glu)
n.625C>G
c.-238C>G (n.-238C>G)
c.252C>G (p.Asp84Glu)
11g.71442327G=CA1981490237DHCR7c.348C= (p.Asp116=)
c.174C= (p.Asp58=)
c.384C= (p.Asp128=)
n.625C=
c.-238C= (n.-238C=)
c.252C= (p.Asp84=)
11g.71442327G>TCA381695098DHCR7c.348C>A (p.Asp116Glu)
c.174C>A (p.Asp58Glu)
c.384C>A (p.Asp128Glu)
n.625C>A
c.-238C>A (n.-238C>A)
c.252C>A (p.Asp84Glu)
 gnomAD v4
11g.71442328T>ACA381695100DHCR7c.347A>T (p.Asp116Val)
c.173A>T (p.Asp58Val)
c.383A>T (p.Asp128Val)
n.624A>T
c.-239A>T (n.-239A>T)
c.251A>T (p.Asp84Val)
11g.71442328T>CCA381695102DHCR7c.347A>G (p.Asp116Gly)
c.173A>G (p.Asp58Gly)
c.383A>G (p.Asp128Gly)
n.624A>G
c.-239A>G (n.-239A>G)
c.251A>G (p.Asp84Gly)
 ClinVar dbSNP
11g.71442328T>GCA381695104DHCR7c.347A>C (p.Asp116Ala)
c.173A>C (p.Asp58Ala)
c.383A>C (p.Asp128Ala)
n.624A>C
c.-239A>C (n.-239A>C)
c.251A>C (p.Asp84Ala)
11g.71442328T=CA1981490238DHCR7c.347A= (p.Asp116=)
c.173A= (p.Asp58=)
c.383A= (p.Asp128=)
n.624A=
c.-239A= (n.-239A=)
c.251A= (p.Asp84=)
11g.71442329C>ACA381695107DHCR7c.346G>T (p.Asp116Tyr)
c.172G>T (p.Asp58Tyr)
c.382G>T (p.Asp128Tyr)
n.623G>T
c.-240G>T (n.-240G>T)
c.250G>T (p.Asp84Tyr)
11g.71442329C=CA1981490240DHCR7c.346G= (p.Asp116=)
c.172G= (p.Asp58=)
c.382G= (p.Asp128=)
n.623G=
c.-240G= (n.-240G=)
c.250G= (p.Asp84=)
11g.71442329C>GCA381695109DHCR7c.346G>C (p.Asp116His)
c.172G>C (p.Asp58His)
c.382G>C (p.Asp128His)
n.623G>C
c.-240G>C (n.-240G>C)
c.250G>C (p.Asp84His)
 dbSNP
11g.71442329C>TCA381695111DHCR7c.346G>A (p.Asp116Asn)
c.172G>A (p.Asp58Asn)
c.382G>A (p.Asp128Asn)
n.623G>A
c.-240G>A (n.-240G>A)
c.250G>A (p.Asp84Asn)
11g.71442329_71442330delinsCACA1981490239DHCR7c.345_346delinsTG (p.Pro115=)
c.171_172delinsTG (p.Pro57=)
c.381_382delinsTG (p.Pro127=)
n.622_623delinsTG
c.-241_-240delinsTG (n.-241_-240delinsTG)
c.249_250delinsTG (p.Pro83=)
11g.71442330delCA600039631DHCR7c.345del (p.Asp116ThrfsTer11)
c.171del (p.Asp58ThrfsTer11)
c.381del (p.Asp128ThrfsTer11)
n.622del
c.-241del (n.-241del)
c.249del (p.Asp84ThrfsTer11)
 dbSNP gnomAD v2 gnomAD v4
11g.71442330A>CCA475519658DHCR7c.345T>G (p.Pro115=)
c.171T>G (p.Pro57=)
c.381T>G (p.Pro127=)
n.622T>G
c.-241T>G (n.-241T>G)
c.249T>G (p.Pro83=)
11g.71442330A>GCA475519659DHCR7c.345T>C (p.Pro115=)
c.171T>C (p.Pro57=)
c.381T>C (p.Pro127=)
n.622T>C
c.-241T>C (n.-241T>C)
c.249T>C (p.Pro83=)
11g.71442330A>TCA475519660DHCR7c.345T>A (p.Pro115=)
c.171T>A (p.Pro57=)
c.381T>A (p.Pro127=)
n.622T>A
c.-241T>A (n.-241T>A)
c.249T>A (p.Pro83=)
11g.71442331G>ACA381695119DHCR7c.344C>T (p.Pro115Leu)
c.170C>T (p.Pro57Leu)
c.380C>T (p.Pro127Leu)
n.621C>T
c.-242C>T (n.-242C>T)
c.248C>T (p.Pro83Leu)
 dbSNP gnomAD v2 gnomAD v4
11g.71442331G>CCA381695122DHCR7c.344C>G (p.Pro115Arg)
c.170C>G (p.Pro57Arg)
c.380C>G (p.Pro127Arg)
n.621C>G
c.-242C>G (n.-242C>G)
c.248C>G (p.Pro83Arg)
11g.71442331G=CA1981490241DHCR7c.344C= (p.Pro115=)
c.170C= (p.Pro57=)
c.380C= (p.Pro127=)
n.621C=
c.-242C= (n.-242C=)
c.248C= (p.Pro83=)
11g.71442331G>TCA381695116DHCR7c.344C>A (p.Pro115His)
c.170C>A (p.Pro57His)
c.380C>A (p.Pro127His)
n.621C>A
c.-242C>A (n.-242C>A)
c.248C>A (p.Pro83His)
11g.71442332G>ACA224280139DHCR7c.343C>T (p.Pro115Ser)
c.169C>T (p.Pro57Ser)
c.379C>T (p.Pro127Ser)
n.620C>T
c.-243C>T (n.-243C>T)
c.247C>T (p.Pro83Ser)
 dbSNP
11g.71442332G>CCA381695125DHCR7c.343C>G (p.Pro115Ala)
c.169C>G (p.Pro57Ala)
c.379C>G (p.Pro127Ala)
n.620C>G
c.-243C>G (n.-243C>G)
c.247C>G (p.Pro83Ala)
11g.71442332G=CA1981490242DHCR7c.343C= (p.Pro115=)
c.169C= (p.Pro57=)
c.379C= (p.Pro127=)
n.620C=
c.-243C= (n.-243C=)
c.247C= (p.Pro83=)
11g.71442332G>TCA381695127DHCR7c.343C>A (p.Pro115Thr)
c.169C>A (p.Pro57Thr)
c.379C>A (p.Pro127Thr)
n.620C>A
c.-243C>A (n.-243C>A)
c.247C>A (p.Pro83Thr)
 dbSNP gnomAD v2 gnomAD v4
11g.71442333G>ACA475519663DHCR7c.342C>T (p.Leu114=)
c.168C>T (p.Leu56=)
c.378C>T (p.Leu126=)
n.619C>T
c.-244C>T (n.-244C>T)
c.246C>T (p.Leu82=)
11g.71442333G>CCA475519662DHCR7c.342C>G (p.Leu114=)
c.168C>G (p.Leu56=)
c.378C>G (p.Leu126=)
n.619C>G
c.-244C>G (n.-244C>G)
c.246C>G (p.Leu82=)
 gnomAD v4
11g.71442333G=CA1981490243DHCR7c.342C= (p.Leu114=)
c.168C= (p.Leu56=)
c.378C= (p.Leu126=)
n.619C=
c.-244C= (n.-244C=)
c.246C= (p.Leu82=)
11g.71442333G>TCA6162607DHCR7c.342C>A (p.Leu114=)
c.168C>A (p.Leu56=)
c.378C>A (p.Leu126=)
n.619C>A
c.-244C>A (n.-244C>A)
c.246C>A (p.Leu82=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.71442334A>CCA381695139DHCR7c.341T>G (p.Leu114Arg)
c.167T>G (p.Leu56Arg)
c.377T>G (p.Leu126Arg)
n.618T>G
c.-245T>G (n.-245T>G)
c.245T>G (p.Leu82Arg)
11g.71442334A>GCA381695136DHCR7c.341T>C (p.Leu114Pro)
c.167T>C (p.Leu56Pro)
c.377T>C (p.Leu126Pro)
n.618T>C
c.-245T>C (n.-245T>C)
c.245T>C (p.Leu82Pro)
11g.71442334A>TCA381695133DHCR7c.341T>A (p.Leu114His)
c.167T>A (p.Leu56His)
c.377T>A (p.Leu126His)
n.618T>A
c.-245T>A (n.-245T>A)
c.245T>A (p.Leu82His)
11g.71442335G>ACA381695142DHCR7c.340C>T (p.Leu114Phe)
c.166C>T (p.Leu56Phe)
c.376C>T (p.Leu126Phe)
n.617C>T
c.-246C>T (n.-246C>T)
c.244C>T (p.Leu82Phe)
 gnomAD v4
11g.71442335G>CCA381695145DHCR7c.340C>G (p.Leu114Val)
c.166C>G (p.Leu56Val)
c.376C>G (p.Leu126Val)
n.617C>G
c.-246C>G (n.-246C>G)
c.244C>G (p.Leu82Val)
11g.71442335G>TCA381695147DHCR7c.340C>A (p.Leu114Ile)
c.166C>A (p.Leu56Ile)
c.376C>A (p.Leu126Ile)
n.617C>A
c.-246C>A (n.-246C>A)
c.244C>A (p.Leu82Ile)
11g.71442336A>CCA475519664DHCR7c.339T>G (p.Ser113=)
c.165T>G (p.Ser55=)
c.375T>G (p.Ser125=)
n.616T>G
c.-247T>G (n.-247T>G)
c.243T>G (p.Ser81=)
11g.71442336A>GCA475519665DHCR7c.339T>C (p.Ser113=)
c.165T>C (p.Ser55=)
c.375T>C (p.Ser125=)
n.616T>C
c.-247T>C (n.-247T>C)
c.243T>C (p.Ser81=)
 gnomAD v4
11g.71442336A>TCA475519666DHCR7c.339T>A (p.Ser113=)
c.165T>A (p.Ser55=)
c.375T>A (p.Ser125=)
n.616T>A
c.-247T>A (n.-247T>A)
c.243T>A (p.Ser81=)
11g.71442337G>ACA381695149DHCR7c.338C>T (p.Ser113Phe)
c.164C>T (p.Ser55Phe)
c.374C>T (p.Ser125Phe)
n.615C>T
c.-248C>T (n.-248C>T)
c.242C>T (p.Ser81Phe)
11g.71442337G>CCA381695151DHCR7c.338C>G (p.Ser113Cys)
c.164C>G (p.Ser55Cys)
c.374C>G (p.Ser125Cys)
n.615C>G
c.-248C>G (n.-248C>G)
c.242C>G (p.Ser81Cys)
 gnomAD v4
11g.71442337G>TCA381695153DHCR7c.338C>A (p.Ser113Tyr)
c.164C>A (p.Ser55Tyr)
c.374C>A (p.Ser125Tyr)
n.615C>A
c.-248C>A (n.-248C>A)
c.242C>A (p.Ser81Tyr)
11g.71442338A>CCA381695154DHCR7c.337T>G (p.Ser113Ala)
c.163T>G (p.Ser55Ala)
c.373T>G (p.Ser125Ala)
n.614T>G
c.-249T>G (n.-249T>G)
c.241T>G (p.Ser81Ala)
11g.71442338A>GCA381695156DHCR7c.337T>C (p.Ser113Pro)
c.163T>C (p.Ser55Pro)
c.373T>C (p.Ser125Pro)
n.614T>C
c.-249T>C (n.-249T>C)
c.241T>C (p.Ser81Pro)
11g.71442338A>TCA381695155DHCR7c.337T>A (p.Ser113Thr)
c.163T>A (p.Ser55Thr)
c.373T>A (p.Ser125Thr)
n.614T>A
c.-249T>A (n.-249T>A)
c.241T>A (p.Ser81Thr)
11g.71442340_71442345delCA2574909285DHCR7c.332_337del (p.Tyr111_Thr112del)
c.158_163del (p.Tyr53_Thr54del)
c.368_373del (p.Tyr123_Thr124del)
n.609_614del
c.-254_-249del (n.-254_-249del)
c.236_241del (p.Tyr79_Thr80del)
 gnomAD v4
11g.71442339C>ACA475519668DHCR7c.336G>T (p.Thr112=)
c.162G>T (p.Thr54=)
c.372G>T (p.Thr124=)
n.613G>T
c.-250G>T (n.-250G>T)
c.240G>T (p.Thr80=)
 COSMIC COSMIC
11g.71442339C=CA1981490244DHCR7c.336G= (p.Thr112=)
c.162G= (p.Thr54=)
c.372G= (p.Thr124=)
n.613G=
c.-250G= (n.-250G=)
c.240G= (p.Thr80=)
11g.71442339C>GCA475519669DHCR7c.336G>C (p.Thr112=)
c.162G>C (p.Thr54=)
c.372G>C (p.Thr124=)
n.613G>C
c.-250G>C (n.-250G>C)
c.240G>C (p.Thr80=)
11g.71442339C>TCA6162608DHCR7c.336G>A (p.Thr112=)
c.162G>A (p.Thr54=)
c.372G>A (p.Thr124=)
n.613G>A
c.-250G>A (n.-250G>A)
c.240G>A (p.Thr80=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71442340G>ACA6162609DHCR7c.335C>T (p.Thr112Met)
c.161C>T (p.Thr54Met)
c.371C>T (p.Thr124Met)
n.612C>T
c.-251C>T (n.-251C>T)
c.239C>T (p.Thr80Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71442340G>CCA381695158DHCR7c.335C>G (p.Thr112Arg)
c.161C>G (p.Thr54Arg)
c.371C>G (p.Thr124Arg)
n.612C>G
c.-251C>G (n.-251C>G)
c.239C>G (p.Thr80Arg)
 dbSNP gnomAD v3 gnomAD v4
11g.71442340G=CA1981490245DHCR7c.335C= (p.Thr112=)
c.161C= (p.Thr54=)
c.371C= (p.Thr124=)
n.612C=
c.-251C= (n.-251C=)
c.239C= (p.Thr80=)
11g.71442340G>TCA381695160DHCR7c.335C>A (p.Thr112Lys)
c.161C>A (p.Thr54Lys)
c.371C>A (p.Thr124Lys)
n.612C>A
c.-251C>A (n.-251C>A)
c.239C>A (p.Thr80Lys)
11g.71442341T>ACA381695163DHCR7c.334A>T (p.Thr112Ser)
c.160A>T (p.Thr54Ser)
c.370A>T (p.Thr124Ser)
n.611A>T
c.-252A>T (n.-252A>T)
c.238A>T (p.Thr80Ser)
 dbSNP
11g.71442341T>CCA381695165DHCR7c.334A>G (p.Thr112Ala)
c.160A>G (p.Thr54Ala)
c.370A>G (p.Thr124Ala)
n.611A>G
c.-252A>G (n.-252A>G)
c.238A>G (p.Thr80Ala)
11g.71442341T>GCA381695168DHCR7c.334A>C (p.Thr112Pro)
c.160A>C (p.Thr54Pro)
c.370A>C (p.Thr124Pro)
n.611A>C
c.-252A>C (n.-252A>C)
c.238A>C (p.Thr80Pro)
11g.71442341T=CA1981490246DHCR7c.334A= (p.Thr112=)
c.160A= (p.Thr54=)
c.370A= (p.Thr124=)
n.611A=
c.-252A= (n.-252A=)
c.238A= (p.Thr80=)
11g.71442343_71442356delCA2697548792DHCR7c.322-1_334del
c.148-1_160del
c.358-1_370del
n.599-1_611del
c.-264-1_-252del
c.226-1_238del
 ClinVar
11g.71442342G>ACA6162610DHCR7c.333C>T (p.Tyr111=)
c.159C>T (p.Tyr53=)
c.369C>T (p.Tyr123=)
n.610C>T
c.-253C>T (n.-253C>T)
c.237C>T (p.Tyr79=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.71442342G>CCA381695172DHCR7c.333C>G (p.Tyr111Ter)
c.159C>G (p.Tyr53Ter)
c.369C>G (p.Tyr123Ter)
n.610C>G
c.-253C>G (n.-253C>G)
c.237C>G (p.Tyr79Ter)
11g.71442342G=CA1981490247DHCR7c.333C= (p.Tyr111=)
c.159C= (p.Tyr53=)
c.369C= (p.Tyr123=)
n.610C=
c.-253C= (n.-253C=)
c.237C= (p.Tyr79=)
11g.71442342G>TCA381695170DHCR7c.333C>A (p.Tyr111Ter)
c.159C>A (p.Tyr53Ter)
c.369C>A (p.Tyr123Ter)
n.610C>A
c.-253C>A (n.-253C>A)
c.237C>A (p.Tyr79Ter)
11g.71442343T>ACA381695175DHCR7c.332A>T (p.Tyr111Phe)
c.158A>T (p.Tyr53Phe)
c.368A>T (p.Tyr123Phe)
n.609A>T
c.-254A>T (n.-254A>T)
c.236A>T (p.Tyr79Phe)
11g.71442343T>CCA381695177DHCR7c.332A>G (p.Tyr111Cys)
c.158A>G (p.Tyr53Cys)
c.368A>G (p.Tyr123Cys)
n.609A>G
c.-254A>G (n.-254A>G)
c.236A>G (p.Tyr79Cys)
 dbSNP
11g.71442343T>GCA381695179DHCR7c.332A>C (p.Tyr111Ser)
c.158A>C (p.Tyr53Ser)
c.368A>C (p.Tyr123Ser)
n.609A>C
c.-254A>C (n.-254A>C)
c.236A>C (p.Tyr79Ser)
11g.71442343T=CA1981490248DHCR7c.332A= (p.Tyr111=)
c.158A= (p.Tyr53=)
c.368A= (p.Tyr123=)
n.609A=
c.-254A= (n.-254A=)
c.236A= (p.Tyr79=)
11g.71442344A>CCA381695181DHCR7c.331T>G (p.Tyr111Asp)
c.157T>G (p.Tyr53Asp)
c.367T>G (p.Tyr123Asp)
n.608T>G
c.-255T>G (n.-255T>G)
c.235T>G (p.Tyr79Asp)
11g.71442344A>GCA381695182DHCR7c.331T>C (p.Tyr111His)
c.157T>C (p.Tyr53His)
c.367T>C (p.Tyr123His)
n.608T>C
c.-255T>C (n.-255T>C)
c.235T>C (p.Tyr79His)
11g.71442344A>TCA381695184DHCR7c.331T>A (p.Tyr111Asn)
c.157T>A (p.Tyr53Asn)
c.367T>A (p.Tyr123Asn)
n.608T>A
c.-255T>A (n.-255T>A)
c.235T>A (p.Tyr79Asn)
11g.71442345C>ACA475519670DHCR7c.330G>T (p.Leu110=)
c.156G>T (p.Leu52=)
c.366G>T (p.Leu122=)
n.607G>T
c.-256G>T (n.-256G>T)
c.234G>T (p.Leu78=)
11g.71442345C>GCA475519671DHCR7c.330G>C (p.Leu110=)
c.156G>C (p.Leu52=)
c.366G>C (p.Leu122=)
n.607G>C
c.-256G>C (n.-256G>C)
c.234G>C (p.Leu78=)
 ClinVar dbSNP
11g.71442345C>TCA475519672DHCR7c.330G>A (p.Leu110=)
c.156G>A (p.Leu52=)
c.366G>A (p.Leu122=)
n.607G>A
c.-256G>A (n.-256G>A)
c.234G>A (p.Leu78=)
 ClinVar
11g.71442346A>CCA381695185DHCR7c.329T>G (p.Leu110Arg)
c.155T>G (p.Leu52Arg)
c.365T>G (p.Leu122Arg)
n.606T>G
c.-257T>G (n.-257T>G)
c.233T>G (p.Leu78Arg)
11g.71442346A>GCA381695187DHCR7c.329T>C (p.Leu110Pro)
c.155T>C (p.Leu52Pro)
c.365T>C (p.Leu122Pro)
n.606T>C
c.-257T>C (n.-257T>C)
c.233T>C (p.Leu78Pro)
 gnomAD v4
11g.71442346A>TCA381695186DHCR7c.329T>A (p.Leu110Gln)
c.155T>A (p.Leu52Gln)
c.365T>A (p.Leu122Gln)
n.606T>A
c.-257T>A (n.-257T>A)
c.233T>A (p.Leu78Gln)
11g.71442347G>ACA475519674DHCR7c.328C>T (p.Leu110=)
c.154C>T (p.Leu52=)
c.364C>T (p.Leu122=)
n.605C>T
c.-258C>T (n.-258C>T)
c.232C>T (p.Leu78=)
11g.71442347G>CCA381695190DHCR7c.328C>G (p.Leu110Val)
c.154C>G (p.Leu52Val)
c.364C>G (p.Leu122Val)
n.605C>G
c.-258C>G (n.-258C>G)
c.232C>G (p.Leu78Val)
11g.71442347G>TCA381695192DHCR7c.328C>A (p.Leu110Met)
c.154C>A (p.Leu52Met)
c.364C>A (p.Leu122Met)
n.605C>A
c.-258C>A (n.-258C>A)
c.232C>A (p.Leu78Met)
11g.71442348A=CA1981490249DHCR7c.327T= (p.Leu109=)
c.153T= (p.Leu51=)
c.363T= (p.Leu121=)
n.604T=
c.-259T= (n.-259T=)
c.231T= (p.Leu77=)
11g.71442348A>CCA475519675DHCR7c.327T>G (p.Leu109=)
c.153T>G (p.Leu51=)
c.363T>G (p.Leu121=)
n.604T>G
c.-259T>G (n.-259T>G)
c.231T>G (p.Leu77=)
11g.71442348A>GCA6162611DHCR7c.327T>C (p.Leu109=)
c.153T>C (p.Leu51=)
c.363T>C (p.Leu121=)
n.604T>C
c.-259T>C (n.-259T>C)
c.231T>C (p.Leu77=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71442348A>TCA475519677DHCR7c.327T>A (p.Leu109=)
c.153T>A (p.Leu51=)
c.363T>A (p.Leu121=)
n.604T>A
c.-259T>A (n.-259T>A)
c.231T>A (p.Leu77=)
 dbSNP
11g.71442349A=CA1981490250DHCR7c.326T= (p.Leu109=)
c.152T= (p.Leu51=)
c.362T= (p.Leu121=)
n.603T=
c.-260T= (n.-260T=)
c.230T= (p.Leu77=)
11g.71442349A>CCA381695195DHCR7c.326T>G (p.Leu109Arg)
c.152T>G (p.Leu51Arg)
c.362T>G (p.Leu121Arg)
n.603T>G
c.-260T>G (n.-260T>G)
c.230T>G (p.Leu77Arg)
11g.71442349A>GCA224280150DHCR7c.326T>C (p.Leu109Pro)
c.152T>C (p.Leu51Pro)
c.362T>C (p.Leu121Pro)
n.603T>C
c.-260T>C (n.-260T>C)
c.230T>C (p.Leu77Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71442349A>TCA381695197DHCR7c.326T>A (p.Leu109His)
c.152T>A (p.Leu51His)
c.362T>A (p.Leu121His)
n.603T>A
c.-260T>A (n.-260T>A)
c.230T>A (p.Leu77His)
11g.71442350G>ACA381695198DHCR7c.325C>T (p.Leu109Phe)
c.151C>T (p.Leu51Phe)
c.361C>T (p.Leu121Phe)
n.602C>T
c.-261C>T (n.-261C>T)
c.229C>T (p.Leu77Phe)
 gnomAD v4
11g.71442350G>CCA381695200DHCR7c.325C>G (p.Leu109Val)
c.151C>G (p.Leu51Val)
c.361C>G (p.Leu121Val)
n.602C>G
c.-261C>G (n.-261C>G)
c.229C>G (p.Leu77Val)
11g.71442350G>TCA381695201DHCR7c.325C>A (p.Leu109Ile)
c.151C>A (p.Leu51Ile)
c.361C>A (p.Leu121Ile)
n.602C>A
c.-261C>A (n.-261C>A)
c.229C>A (p.Leu77Ile)
11g.71442351C>ACA475519678DHCR7c.324G>T (p.Val108=)
c.150G>T (p.Val50=)
c.360G>T (p.Val120=)
n.601G>T
c.-262G>T (n.-262G>T)
c.228G>T (p.Val76=)
 dbSNP gnomAD v2
11g.71442351C=CA1981490251DHCR7c.324G= (p.Val108=)
c.150G= (p.Val50=)
c.360G= (p.Val120=)
n.601G=
c.-262G= (n.-262G=)
c.228G= (p.Val76=)
11g.71442351C>GCA475519679DHCR7c.324G>C (p.Val108=)
c.150G>C (p.Val50=)
c.360G>C (p.Val120=)
n.601G>C
c.-262G>C (n.-262G>C)
c.228G>C (p.Val76=)
11g.71442351C>TCA6162612DHCR7c.324G>A (p.Val108=)
c.150G>A (p.Val50=)
c.360G>A (p.Val120=)
n.601G>A
c.-262G>A (n.-262G>A)
c.228G>A (p.Val76=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71442352A=CA1981490252DHCR7c.323T= (p.Val108=)
c.149T= (p.Val50=)
c.359T= (p.Val120=)
n.600T=
c.-263T= (n.-263T=)
c.227T= (p.Val76=)
11g.71442352A>CCA381695209DHCR7c.323T>G (p.Val108Gly)
c.149T>G (p.Val50Gly)
c.359T>G (p.Val120Gly)
n.600T>G
c.-263T>G (n.-263T>G)
c.227T>G (p.Val76Gly)
 dbSNP
11g.71442352A>GCA381695207DHCR7c.323T>C (p.Val108Ala)
c.149T>C (p.Val50Ala)
c.359T>C (p.Val120Ala)
n.600T>C
c.-263T>C (n.-263T>C)
c.227T>C (p.Val76Ala)
11g.71442352A>TCA381695205DHCR7c.323T>A (p.Val108Glu)
c.149T>A (p.Val50Glu)
c.359T>A (p.Val120Glu)
n.600T>A
c.-263T>A (n.-263T>A)
c.227T>A (p.Val76Glu)
11g.71442352_71442353insGCCACCAAACATTCAGAAAGGATGTTCCCCAGGGTGAAGCAAGTTCCATCCCCA2614861997DHCR7c.322_323insGGGATGGAACTTGCTTCACCCTGGGGAACATCCTTTCTGAATGTTTGGTGGC (p.Val108GlyfsTer26)
c.148_149insGGGATGGAACTTGCTTCACCCTGGGGAACATCCTTTCTGAATGTTTGGTGGC (p.Val50GlyfsTer26)
c.358_359insGGGATGGAACTTGCTTCACCCTGGGGAACATCCTTTCTGAATGTTTGGTGGC (p.Val120GlyfsTer26)
n.599_600insGGGATGGAACTTGCTTCACCCTGGGGAACATCCTTTCTGAATGTTTGGTGGC
c.-264_-263insGGGATGGAACTTGCTTCACCCTGGGGAACATCCTTTCTGAATGTTTGGTGGC (n.-264_-263insGGGATGGAACTTGCTTCACCCTGGGGAACATCCTTTCTGAATGTTTGGTGGC)
c.226_227insGGGATGGAACTTGCTTCACCCTGGGGAACATCCTTTCTGAATGTTTGGTGGC (p.Val76GlyfsTer26)
 gnomAD v4
11g.71442353C>ACA381695211DHCR7c.322G>T (p.Val108Leu)
c.148G>T (p.Val50Leu)
c.358G>T (p.Val120Leu)
n.599G>T
c.-264G>T (n.-264G>T)
c.226G>T (p.Val76Leu)
11g.71442353C>GCA381695213DHCR7c.322G>C (p.Val108Leu)
c.148G>C (p.Val50Leu)
c.358G>C (p.Val120Leu)
n.599G>C
c.-264G>C (n.-264G>C)
c.226G>C (p.Val76Leu)
11g.71442353C>TCA381695214DHCR7c.322G>A (p.Val108Met)
c.148G>A (p.Val50Met)
c.358G>A (p.Val120Met)
n.599G>A
c.-264G>A (n.-264G>A)
c.226G>A (p.Val76Met)
11g.71442354C>ACA381695215DHCR7c.322-1G>T (n.322-1G>T)
c.148-1G>T (n.148-1G>T)
c.358-1G>T (n.358-1G>T)
n.599-1G>T
c.-264-1G>T (n.-264-1G>T)
c.226-1G>T (n.226-1G>T)
11g.71442354C=CA1981490254DHCR7c.322-1G= (n.322-1G=)
c.148-1G= (n.148-1G=)
c.358-1G= (n.358-1G=)
n.599-1G=
c.-264-1G= (n.-264-1G=)
c.226-1G= (n.226-1G=)
11g.71442354C>GCA381695216DHCR7c.322-1G>C (n.322-1G>C)
c.148-1G>C (n.148-1G>C)
c.358-1G>C (n.358-1G>C)
n.599-1G>C
c.-264-1G>C (n.-264-1G>C)
c.226-1G>C (n.226-1G>C)
 ClinVar dbSNP
11g.71442354C>TCA381695218DHCR7c.322-1G>A (n.322-1G>A)
c.148-1G>A (n.148-1G>A)
c.358-1G>A (n.358-1G>A)
n.599-1G>A
c.-264-1G>A (n.-264-1G>A)
c.226-1G>A (n.226-1G>A)
 ClinVar dbSNP gnomAD v4
11g.71442354_71442355delinsCTCA1981490253DHCR7c.322-2_322-1delinsAG (n.322-2_322-1delinsAG)
c.148-2_148-1delinsAG (n.148-2_148-1delinsAG)
c.358-2_358-1delinsAG (n.358-2_358-1delinsAG)
n.599-2_599-1delinsAG
c.-264-2_-264-1delinsAG (n.-264-2_-264-1delinsAG)
c.226-2_226-1delinsAG (n.226-2_226-1delinsAG)
11g.71442355delCA1981490255DHCR7c.322-2del (n.322-2del)
c.148-2del (n.148-2del)
c.358-2del (n.358-2del)
n.599-2del
c.-264-2del (n.-264-2del)
c.226-2del (n.226-2del)
 dbSNP
11g.71442355T>ACA381695219DHCR7c.322-2A>T (n.322-2A>T)
c.148-2A>T (n.148-2A>T)
c.358-2A>T (n.358-2A>T)
n.599-2A>T
c.-264-2A>T (n.-264-2A>T)
c.226-2A>T (n.226-2A>T)
11g.71442355T>CCA381695221DHCR7c.322-2A>G (n.322-2A>G)
c.148-2A>G (n.148-2A>G)
c.358-2A>G (n.358-2A>G)
n.599-2A>G
c.-264-2A>G (n.-264-2A>G)
c.226-2A>G (n.226-2A>G)
 ClinVar dbSNP gnomAD v4
11g.71442355T>GCA381695223DHCR7c.322-2A>C (n.322-2A>C)
c.148-2A>C (n.148-2A>C)
c.358-2A>C (n.358-2A>C)
n.599-2A>C
c.-264-2A>C (n.-264-2A>C)
c.226-2A>C (n.226-2A>C)
11g.71442355T=CA1981490256DHCR7c.322-2A= (n.322-2A=)
c.148-2A= (n.148-2A=)
c.358-2A= (n.358-2A=)
n.599-2A=
c.-264-2A= (n.-264-2A=)
c.226-2A= (n.226-2A=)
11g.71442360C=CA1981490257DHCR7c.322-7G= (n.322-7G=)
c.148-7G= (n.148-7G=)
c.358-7G= (n.358-7G=)
n.599-7G=
c.-264-7G= (n.-264-7G=)
c.226-7G= (n.226-7G=)
11g.71442360C>TCA679803182DHCR7c.322-7G>A (n.322-7G>A)
c.148-7G>A (n.148-7G>A)
c.358-7G>A (n.358-7G>A)
n.599-7G>A
c.-264-7G>A (n.-264-7G>A)
c.226-7G>A (n.226-7G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched