Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.1347714A>CCA394168966BAIAP3c.2100A>C
c.*112A>C (n.*112A>C)
n.3182A>C
n.3537A>C
n.1699A>C
c.2918A>C (p.Gln973Pro)
c.*1101A>C (n.*1101A>C)
c.2855A>C (p.Gln952Pro)
c.1577A>C (p.Gln526Pro)
c.1514A>C (p.Gln505Pro)
c.*959A>C (n.*959A>C)
c.236A>C (p.Gln79Pro)
n.3260A>C
c.3023A>C (p.Gln1008Pro)
c.2969A>C (p.Gln990Pro)
c.2810A>C (p.Gln937Pro)
c.2849A>C (p.Gln950Pro)
c.626+1494A>C
n.404A>C
c.2834A>C (p.Gln945Pro)
c.3074A>C (p.Gln1025Pro)
16g.1347714A>GCA394168963BAIAP3c.2100A>G
c.*112A>G (n.*112A>G)
n.3182A>G
n.3537A>G
n.1699A>G
c.2918A>G (p.Gln973Arg)
c.*1101A>G (n.*1101A>G)
c.2855A>G (p.Gln952Arg)
c.1577A>G (p.Gln526Arg)
c.1514A>G (p.Gln505Arg)
c.*959A>G (n.*959A>G)
c.236A>G (p.Gln79Arg)
n.3260A>G
c.3023A>G (p.Gln1008Arg)
c.2969A>G (p.Gln990Arg)
c.2810A>G (p.Gln937Arg)
c.2849A>G (p.Gln950Arg)
c.626+1494A>G
n.404A>G
c.2834A>G (p.Gln945Arg)
c.3074A>G (p.Gln1025Arg)
16g.1347714A>TCA394168970BAIAP3c.2100A>T
c.*112A>T (n.*112A>T)
n.3182A>T
n.3537A>T
n.1699A>T
c.2918A>T (p.Gln973Leu)
c.*1101A>T (n.*1101A>T)
c.2855A>T (p.Gln952Leu)
c.1577A>T (p.Gln526Leu)
c.1514A>T (p.Gln505Leu)
c.*959A>T (n.*959A>T)
c.236A>T (p.Gln79Leu)
n.3260A>T
c.3023A>T (p.Gln1008Leu)
c.2969A>T (p.Gln990Leu)
c.2810A>T (p.Gln937Leu)
c.2849A>T (p.Gln950Leu)
c.626+1494A>T
n.404A>T
c.2834A>T (p.Gln945Leu)
c.3074A>T (p.Gln1025Leu)
16g.1347715G>ACA493025839BAIAP3c.2101G>A
c.*113G>A (n.*113G>A)
n.3183G>A
n.3538G>A
n.1700G>A
c.2919G>A (p.Gln973=)
c.*1102G>A (n.*1102G>A)
c.2856G>A (p.Gln952=)
c.1578G>A (p.Gln526=)
c.1515G>A (p.Gln505=)
c.*960G>A (n.*960G>A)
c.237G>A (p.Gln79=)
n.3261G>A
c.3024G>A (p.Gln1008=)
c.2970G>A (p.Gln990=)
c.2811G>A (p.Gln937=)
c.2850G>A (p.Gln950=)
c.626+1495G>A
n.405G>A
c.2835G>A (p.Gln945=)
c.3075G>A (p.Gln1025=)
 COSMIC COSMIC
16g.1347715G>CCA394168974BAIAP3c.2101G>C
c.*113G>C (n.*113G>C)
n.3183G>C
n.3538G>C
n.1700G>C
c.2919G>C (p.Gln973His)
c.*1102G>C (n.*1102G>C)
c.2856G>C (p.Gln952His)
c.1578G>C (p.Gln526His)
c.1515G>C (p.Gln505His)
c.*960G>C (n.*960G>C)
c.237G>C (p.Gln79His)
n.3261G>C
c.3024G>C (p.Gln1008His)
c.2970G>C (p.Gln990His)
c.2811G>C (p.Gln937His)
c.2850G>C (p.Gln950His)
c.626+1495G>C
n.405G>C
c.2835G>C (p.Gln945His)
c.3075G>C (p.Gln1025His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.1347715G=CA2201587216BAIAP3c.2101G=
c.*113G= (n.*113G=)
n.3183G=
n.3538G=
n.1700G=
c.2919G= (p.Gln973=)
c.*1102G= (n.*1102G=)
c.2856G= (p.Gln952=)
c.1578G= (p.Gln526=)
c.1515G= (p.Gln505=)
c.*960G= (n.*960G=)
c.237G= (p.Gln79=)
n.3261G=
c.3024G= (p.Gln1008=)
c.2970G= (p.Gln990=)
c.2811G= (p.Gln937=)
c.2850G= (p.Gln950=)
c.626+1495G=
n.405G=
c.2835G= (p.Gln945=)
c.3075G= (p.Gln1025=)
16g.1347715G>TCA394168978BAIAP3c.2101G>T
c.*113G>T (n.*113G>T)
n.3183G>T
n.3538G>T
n.1700G>T
c.2919G>T (p.Gln973His)
c.*1102G>T (n.*1102G>T)
c.2856G>T (p.Gln952His)
c.1578G>T (p.Gln526His)
c.1515G>T (p.Gln505His)
c.*960G>T (n.*960G>T)
c.237G>T (p.Gln79His)
n.3261G>T
c.3024G>T (p.Gln1008His)
c.2970G>T (p.Gln990His)
c.2811G>T (p.Gln937His)
c.2850G>T (p.Gln950His)
c.626+1495G>T
n.405G>T
c.2835G>T (p.Gln945His)
c.3075G>T (p.Gln1025His)
 gnomAD v4
16g.1347716A>CCA394168982BAIAP3c.2102A>C
c.*114A>C (n.*114A>C)
n.3184A>C
n.3539A>C
n.1701A>C
c.2920A>C (p.Asn974His)
c.*1103A>C (n.*1103A>C)
c.2857A>C (p.Asn953His)
c.1579A>C (p.Asn527His)
c.1516A>C (p.Asn506His)
c.*961A>C (n.*961A>C)
c.238A>C (p.Asn80His)
n.3262A>C
c.3025A>C (p.Asn1009His)
c.2971A>C (p.Asn991His)
c.2812A>C (p.Asn938His)
c.2851A>C (p.Asn951His)
c.626+1496A>C
n.406A>C
c.2836A>C (p.Asn946His)
c.3076A>C (p.Asn1026His)
16g.1347716A>GCA394168984BAIAP3c.2102A>G
c.*114A>G (n.*114A>G)
n.3184A>G
n.3539A>G
n.1701A>G
c.2920A>G (p.Asn974Asp)
c.*1103A>G (n.*1103A>G)
c.2857A>G (p.Asn953Asp)
c.1579A>G (p.Asn527Asp)
c.1516A>G (p.Asn506Asp)
c.*961A>G (n.*961A>G)
c.238A>G (p.Asn80Asp)
n.3262A>G
c.3025A>G (p.Asn1009Asp)
c.2971A>G (p.Asn991Asp)
c.2812A>G (p.Asn938Asp)
c.2851A>G (p.Asn951Asp)
c.626+1496A>G
n.406A>G
c.2836A>G (p.Asn946Asp)
c.3076A>G (p.Asn1026Asp)
16g.1347716A>TCA394168990BAIAP3c.2102A>T
c.*114A>T (n.*114A>T)
n.3184A>T
n.3539A>T
n.1701A>T
c.2920A>T (p.Asn974Tyr)
c.*1103A>T (n.*1103A>T)
c.2857A>T (p.Asn953Tyr)
c.1579A>T (p.Asn527Tyr)
c.1516A>T (p.Asn506Tyr)
c.*961A>T (n.*961A>T)
c.238A>T (p.Asn80Tyr)
n.3262A>T
c.3025A>T (p.Asn1009Tyr)
c.2971A>T (p.Asn991Tyr)
c.2812A>T (p.Asn938Tyr)
c.2851A>T (p.Asn951Tyr)
c.626+1496A>T
n.406A>T
c.2836A>T (p.Asn946Tyr)
c.3076A>T (p.Asn1026Tyr)
16g.1347717A=CA2201587217BAIAP3c.2103A=
c.*115A= (n.*115A=)
n.3185A=
n.3540A=
n.1702A=
c.2921A= (p.Asn974=)
c.*1104A= (n.*1104A=)
c.2858A= (p.Asn953=)
c.1580A= (p.Asn527=)
c.1517A= (p.Asn506=)
c.*962A= (n.*962A=)
c.239A= (p.Asn80=)
n.3263A=
c.3026A= (p.Asn1009=)
c.2972A= (p.Asn991=)
c.2813A= (p.Asn938=)
c.2852A= (p.Asn951=)
c.626+1497A=
n.407A=
c.2837A= (p.Asn946=)
c.3077A= (p.Asn1026=)
16g.1347717A>CCA394168995BAIAP3c.2103A>C
c.*115A>C (n.*115A>C)
n.3185A>C
n.3540A>C
n.1702A>C
c.2921A>C (p.Asn974Thr)
c.*1104A>C (n.*1104A>C)
c.2858A>C (p.Asn953Thr)
c.1580A>C (p.Asn527Thr)
c.1517A>C (p.Asn506Thr)
c.*962A>C (n.*962A>C)
c.239A>C (p.Asn80Thr)
n.3263A>C
c.3026A>C (p.Asn1009Thr)
c.2972A>C (p.Asn991Thr)
c.2813A>C (p.Asn938Thr)
c.2852A>C (p.Asn951Thr)
c.626+1497A>C
n.407A>C
c.2837A>C (p.Asn946Thr)
c.3077A>C (p.Asn1026Thr)
16g.1347717A>GCA7806754BAIAP3c.2103A>G
c.*115A>G (n.*115A>G)
n.3185A>G
n.3540A>G
n.1702A>G
c.2921A>G (p.Asn974Ser)
c.*1104A>G (n.*1104A>G)
c.2858A>G (p.Asn953Ser)
c.1580A>G (p.Asn527Ser)
c.1517A>G (p.Asn506Ser)
c.*962A>G (n.*962A>G)
c.239A>G (p.Asn80Ser)
n.3263A>G
c.3026A>G (p.Asn1009Ser)
c.2972A>G (p.Asn991Ser)
c.2813A>G (p.Asn938Ser)
c.2852A>G (p.Asn951Ser)
c.626+1497A>G
n.407A>G
c.2837A>G (p.Asn946Ser)
c.3077A>G (p.Asn1026Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.1347717A>TCA394169004BAIAP3c.2103A>T
c.*115A>T (n.*115A>T)
n.3185A>T
n.3540A>T
n.1702A>T
c.2921A>T (p.Asn974Ile)
c.*1104A>T (n.*1104A>T)
c.2858A>T (p.Asn953Ile)
c.1580A>T (p.Asn527Ile)
c.1517A>T (p.Asn506Ile)
c.*962A>T (n.*962A>T)
c.239A>T (p.Asn80Ile)
n.3263A>T
c.3026A>T (p.Asn1009Ile)
c.2972A>T (p.Asn991Ile)
c.2813A>T (p.Asn938Ile)
c.2852A>T (p.Asn951Ile)
c.626+1497A>T
n.407A>T
c.2837A>T (p.Asn946Ile)
c.3077A>T (p.Asn1026Ile)
16g.1347718C>ACA394169008BAIAP3c.2104C>A
c.*116C>A (n.*116C>A)
n.3186C>A
n.3541C>A
n.1703C>A
c.2922C>A (p.Asn974Lys)
c.*1105C>A (n.*1105C>A)
c.2859C>A (p.Asn953Lys)
c.1581C>A (p.Asn527Lys)
c.1518C>A (p.Asn506Lys)
c.*963C>A (n.*963C>A)
c.240C>A (p.Asn80Lys)
n.3264C>A
c.3027C>A (p.Asn1009Lys)
c.2973C>A (p.Asn991Lys)
c.2814C>A (p.Asn938Lys)
c.2853C>A (p.Asn951Lys)
c.626+1498C>A
n.408C>A
c.2838C>A (p.Asn946Lys)
c.3078C>A (p.Asn1026Lys)
 dbSNP
16g.1347718C=CA2201587218BAIAP3c.2104C=
c.*116C= (n.*116C=)
n.3186C=
n.3541C=
n.1703C=
c.2922C= (p.Asn974=)
c.*1105C= (n.*1105C=)
c.2859C= (p.Asn953=)
c.1581C= (p.Asn527=)
c.1518C= (p.Asn506=)
c.*963C= (n.*963C=)
c.240C= (p.Asn80=)
n.3264C=
c.3027C= (p.Asn1009=)
c.2973C= (p.Asn991=)
c.2814C= (p.Asn938=)
c.2853C= (p.Asn951=)
c.626+1498C=
n.408C=
c.2838C= (p.Asn946=)
c.3078C= (p.Asn1026=)
16g.1347718C>GCA394169011BAIAP3c.2104C>G
c.*116C>G (n.*116C>G)
n.3186C>G
n.3541C>G
n.1703C>G
c.2922C>G (p.Asn974Lys)
c.*1105C>G (n.*1105C>G)
c.2859C>G (p.Asn953Lys)
c.1581C>G (p.Asn527Lys)
c.1518C>G (p.Asn506Lys)
c.*963C>G (n.*963C>G)
c.240C>G (p.Asn80Lys)
n.3264C>G
c.3027C>G (p.Asn1009Lys)
c.2973C>G (p.Asn991Lys)
c.2814C>G (p.Asn938Lys)
c.2853C>G (p.Asn951Lys)
c.626+1498C>G
n.408C>G
c.2838C>G (p.Asn946Lys)
c.3078C>G (p.Asn1026Lys)
16g.1347718C>TCA7806755BAIAP3c.2104C>T
c.*116C>T (n.*116C>T)
n.3186C>T
n.3541C>T
n.1703C>T
c.2922C>T (p.Asn974=)
c.*1105C>T (n.*1105C>T)
c.2859C>T (p.Asn953=)
c.1581C>T (p.Asn527=)
c.1518C>T (p.Asn506=)
c.*963C>T (n.*963C>T)
c.240C>T (p.Asn80=)
n.3264C>T
c.3027C>T (p.Asn1009=)
c.2973C>T (p.Asn991=)
c.2814C>T (p.Asn938=)
c.2853C>T (p.Asn951=)
c.626+1498C>T
n.408C>T
c.2838C>T (p.Asn946=)
c.3078C>T (p.Asn1026=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.1347719delCA2630972698BAIAP3c.2105del
c.*117del (n.*117del)
n.3187del
n.3542del
n.1704del
c.2923del (p.Arg975GlyfsTer5)
c.*1106del (n.*1106del)
c.2860del (p.Arg954GlyfsTer5)
c.1582del (p.Arg528GlyfsTer5)
c.1519del (p.Arg507GlyfsTer5)
c.*964del (n.*964del)
c.241del (p.Arg81GlyfsTer5)
n.3265del
c.3028del (p.Arg1010GlyfsTer5)
c.2974del (p.Arg992GlyfsTer5)
c.2815del (p.Arg939GlyfsTer5)
c.2854del (p.Arg952GlyfsTer5)
c.626+1499del
n.409del
c.2839del (p.Arg947GlyfsTer5)
c.3079del (p.Arg1027GlyfsTer5)
 gnomAD v4
16g.1347719C>ACA493025840BAIAP3c.2105C>A
c.*117C>A (n.*117C>A)
n.3187C>A
n.3542C>A
n.1704C>A
c.2923C>A (p.Arg975=)
c.*1106C>A (n.*1106C>A)
c.2860C>A (p.Arg954=)
c.1582C>A (p.Arg528=)
c.1519C>A (p.Arg507=)
c.*964C>A (n.*964C>A)
c.241C>A (p.Arg81=)
n.3265C>A
c.3028C>A (p.Arg1010=)
c.2974C>A (p.Arg992=)
c.2815C>A (p.Arg939=)
c.2854C>A (p.Arg952=)
c.626+1499C>A
n.409C>A
c.2839C>A (p.Arg947=)
c.3079C>A (p.Arg1027=)
 dbSNP gnomAD v2 gnomAD v4
16g.1347719C=CA2201587219BAIAP3c.2105C=
c.*117C= (n.*117C=)
n.3187C=
n.3542C=
n.1704C=
c.2923C= (p.Arg975=)
c.*1106C= (n.*1106C=)
c.2860C= (p.Arg954=)
c.1582C= (p.Arg528=)
c.1519C= (p.Arg507=)
c.*964C= (n.*964C=)
c.241C= (p.Arg81=)
n.3265C=
c.3028C= (p.Arg1010=)
c.2974C= (p.Arg992=)
c.2815C= (p.Arg939=)
c.2854C= (p.Arg952=)
c.626+1499C=
n.409C=
c.2839C= (p.Arg947=)
c.3079C= (p.Arg1027=)
16g.1347719C>GCA394169016BAIAP3c.2105C>G
c.*117C>G (n.*117C>G)
n.3187C>G
n.3542C>G
n.1704C>G
c.2923C>G (p.Arg975Gly)
c.*1106C>G (n.*1106C>G)
c.2860C>G (p.Arg954Gly)
c.1582C>G (p.Arg528Gly)
c.1519C>G (p.Arg507Gly)
c.*964C>G (n.*964C>G)
c.241C>G (p.Arg81Gly)
n.3265C>G
c.3028C>G (p.Arg1010Gly)
c.2974C>G (p.Arg992Gly)
c.2815C>G (p.Arg939Gly)
c.2854C>G (p.Arg952Gly)
c.626+1499C>G
n.409C>G
c.2839C>G (p.Arg947Gly)
c.3079C>G (p.Arg1027Gly)
16g.1347719C>TCA7806756BAIAP3c.2105C>T
c.*117C>T (n.*117C>T)
n.3187C>T
n.3542C>T
n.1704C>T
c.2923C>T (p.Arg975Trp)
c.*1106C>T (n.*1106C>T)
c.2860C>T (p.Arg954Trp)
c.1582C>T (p.Arg528Trp)
c.1519C>T (p.Arg507Trp)
c.*964C>T (n.*964C>T)
c.241C>T (p.Arg81Trp)
n.3265C>T
c.3028C>T (p.Arg1010Trp)
c.2974C>T (p.Arg992Trp)
c.2815C>T (p.Arg939Trp)
c.2854C>T (p.Arg952Trp)
c.626+1499C>T
n.409C>T
c.2839C>T (p.Arg947Trp)
c.3079C>T (p.Arg1027Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1347720G>ACA7806757BAIAP3c.2106G>A
c.*118G>A (n.*118G>A)
n.3188G>A
n.3543G>A
n.1705G>A
c.2924G>A (p.Arg975Gln)
c.*1107G>A (n.*1107G>A)
c.2861G>A (p.Arg954Gln)
c.1583G>A (p.Arg528Gln)
c.1520G>A (p.Arg507Gln)
c.*965G>A (n.*965G>A)
c.242G>A (p.Arg81Gln)
n.3266G>A
c.3029G>A (p.Arg1010Gln)
c.2975G>A (p.Arg992Gln)
c.2816G>A (p.Arg939Gln)
c.2855G>A (p.Arg952Gln)
c.626+1500G>A
n.410G>A
c.2840G>A (p.Arg947Gln)
c.3080G>A (p.Arg1027Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1347720G>CCA394169024BAIAP3c.2106G>C
c.*118G>C (n.*118G>C)
n.3188G>C
n.3543G>C
n.1705G>C
c.2924G>C (p.Arg975Pro)
c.*1107G>C (n.*1107G>C)
c.2861G>C (p.Arg954Pro)
c.1583G>C (p.Arg528Pro)
c.1520G>C (p.Arg507Pro)
c.*965G>C (n.*965G>C)
c.242G>C (p.Arg81Pro)
n.3266G>C
c.3029G>C (p.Arg1010Pro)
c.2975G>C (p.Arg992Pro)
c.2816G>C (p.Arg939Pro)
c.2855G>C (p.Arg952Pro)
c.626+1500G>C
n.410G>C
c.2840G>C (p.Arg947Pro)
c.3080G>C (p.Arg1027Pro)
16g.1347720G=CA2201587221BAIAP3c.2106G=
c.*118G= (n.*118G=)
n.3188G=
n.3543G=
n.1705G=
c.2924G= (p.Arg975=)
c.*1107G= (n.*1107G=)
c.2861G= (p.Arg954=)
c.1583G= (p.Arg528=)
c.1520G= (p.Arg507=)
c.*965G= (n.*965G=)
c.242G= (p.Arg81=)
n.3266G=
c.3029G= (p.Arg1010=)
c.2975G= (p.Arg992=)
c.2816G= (p.Arg939=)
c.2855G= (p.Arg952=)
c.626+1500G=
n.410G=
c.2840G= (p.Arg947=)
c.3080G= (p.Arg1027=)
16g.1347720G>TCA394169027BAIAP3c.2106G>T
c.*118G>T (n.*118G>T)
n.3188G>T
n.3543G>T
n.1705G>T
c.2924G>T (p.Arg975Leu)
c.*1107G>T (n.*1107G>T)
c.2861G>T (p.Arg954Leu)
c.1583G>T (p.Arg528Leu)
c.1520G>T (p.Arg507Leu)
c.*965G>T (n.*965G>T)
c.242G>T (p.Arg81Leu)
n.3266G>T
c.3029G>T (p.Arg1010Leu)
c.2975G>T (p.Arg992Leu)
c.2816G>T (p.Arg939Leu)
c.2855G>T (p.Arg952Leu)
c.626+1500G>T
n.410G>T
c.2840G>T (p.Arg947Leu)
c.3080G>T (p.Arg1027Leu)
 gnomAD v4
16g.1347721G>ACA493025841BAIAP3c.2107G>A
c.*119G>A (n.*119G>A)
n.3189G>A
n.3544G>A
n.1706G>A
c.2925G>A (p.Arg975=)
c.*1108G>A (n.*1108G>A)
c.2862G>A (p.Arg954=)
c.1584G>A (p.Arg528=)
c.1521G>A (p.Arg507=)
c.*966G>A (n.*966G>A)
c.243G>A (p.Arg81=)
n.3267G>A
c.3030G>A (p.Arg1010=)
c.2976G>A (p.Arg992=)
c.2817G>A (p.Arg939=)
c.2856G>A (p.Arg952=)
c.626+1501G>A
n.411G>A
c.2841G>A (p.Arg947=)
c.3081G>A (p.Arg1027=)
 dbSNP gnomAD v4
16g.1347721G>CCA493025842BAIAP3c.2107G>C
c.*119G>C (n.*119G>C)
n.3189G>C
n.3544G>C
n.1706G>C
c.2925G>C (p.Arg975=)
c.*1108G>C (n.*1108G>C)
c.2862G>C (p.Arg954=)
c.1584G>C (p.Arg528=)
c.1521G>C (p.Arg507=)
c.*966G>C (n.*966G>C)
c.243G>C (p.Arg81=)
n.3267G>C
c.3030G>C (p.Arg1010=)
c.2976G>C (p.Arg992=)
c.2817G>C (p.Arg939=)
c.2856G>C (p.Arg952=)
c.626+1501G>C
n.411G>C
c.2841G>C (p.Arg947=)
c.3081G>C (p.Arg1027=)
 gnomAD v4
16g.1347721G=CA2201587222BAIAP3c.2107G=
c.*119G= (n.*119G=)
n.3189G=
n.3544G=
n.1706G=
c.2925G= (p.Arg975=)
c.*1108G= (n.*1108G=)
c.2862G= (p.Arg954=)
c.1584G= (p.Arg528=)
c.1521G= (p.Arg507=)
c.*966G= (n.*966G=)
c.243G= (p.Arg81=)
n.3267G=
c.3030G= (p.Arg1010=)
c.2976G= (p.Arg992=)
c.2817G= (p.Arg939=)
c.2856G= (p.Arg952=)
c.626+1501G=
n.411G=
c.2841G= (p.Arg947=)
c.3081G= (p.Arg1027=)
16g.1347721G>TCA493025843BAIAP3c.2107G>T
c.*119G>T (n.*119G>T)
n.3189G>T
n.3544G>T
n.1706G>T
c.2925G>T (p.Arg975=)
c.*1108G>T (n.*1108G>T)
c.2862G>T (p.Arg954=)
c.1584G>T (p.Arg528=)
c.1521G>T (p.Arg507=)
c.*966G>T (n.*966G>T)
c.243G>T (p.Arg81=)
n.3267G>T
c.3030G>T (p.Arg1010=)
c.2976G>T (p.Arg992=)
c.2817G>T (p.Arg939=)
c.2856G>T (p.Arg952=)
c.626+1501G>T
n.411G>T
c.2841G>T (p.Arg947=)
c.3081G>T (p.Arg1027=)
16g.1347722T>ACA394169034BAIAP3c.2108T>A
c.*120T>A (n.*120T>A)
n.3190T>A
n.3545T>A
n.1707T>A
c.2926T>A (p.Phe976Ile)
c.*1109T>A (n.*1109T>A)
c.2863T>A (p.Phe955Ile)
c.1585T>A (p.Phe529Ile)
c.1522T>A (p.Phe508Ile)
c.*967T>A (n.*967T>A)
c.244T>A (p.Phe82Ile)
n.3268T>A
c.3031T>A (p.Phe1011Ile)
c.2977T>A (p.Phe993Ile)
c.2818T>A (p.Phe940Ile)
c.2857T>A (p.Phe953Ile)
c.626+1502T>A
n.412T>A
c.2842T>A (p.Phe948Ile)
c.3082T>A (p.Phe1028Ile)
16g.1347722T>CCA7806758BAIAP3c.2108T>C
c.*120T>C (n.*120T>C)
n.3190T>C
n.3545T>C
n.1707T>C
c.2926T>C (p.Phe976Leu)
c.*1109T>C (n.*1109T>C)
c.2863T>C (p.Phe955Leu)
c.1585T>C (p.Phe529Leu)
c.1522T>C (p.Phe508Leu)
c.*967T>C (n.*967T>C)
c.244T>C (p.Phe82Leu)
n.3268T>C
c.3031T>C (p.Phe1011Leu)
c.2977T>C (p.Phe993Leu)
c.2818T>C (p.Phe940Leu)
c.2857T>C (p.Phe953Leu)
c.626+1502T>C
n.412T>C
c.2842T>C (p.Phe948Leu)
c.3082T>C (p.Phe1028Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1347722T>GCA394169035BAIAP3c.2108T>G
c.*120T>G (n.*120T>G)
n.3190T>G
n.3545T>G
n.1707T>G
c.2926T>G (p.Phe976Val)
c.*1109T>G (n.*1109T>G)
c.2863T>G (p.Phe955Val)
c.1585T>G (p.Phe529Val)
c.1522T>G (p.Phe508Val)
c.*967T>G (n.*967T>G)
c.244T>G (p.Phe82Val)
n.3268T>G
c.3031T>G (p.Phe1011Val)
c.2977T>G (p.Phe993Val)
c.2818T>G (p.Phe940Val)
c.2857T>G (p.Phe953Val)
c.626+1502T>G
n.412T>G
c.2842T>G (p.Phe948Val)
c.3082T>G (p.Phe1028Val)
16g.1347722T=CA2201587225BAIAP3c.2108T=
c.*120T= (n.*120T=)
n.3190T=
n.3545T=
n.1707T=
c.2926T= (p.Phe976=)
c.*1109T= (n.*1109T=)
c.2863T= (p.Phe955=)
c.1585T= (p.Phe529=)
c.1522T= (p.Phe508=)
c.*967T= (n.*967T=)
c.244T= (p.Phe82=)
n.3268T=
c.3031T= (p.Phe1011=)
c.2977T= (p.Phe993=)
c.2818T= (p.Phe940=)
c.2857T= (p.Phe953=)
c.626+1502T=
n.412T=
c.2842T= (p.Phe948=)
c.3082T= (p.Phe1028=)
16g.1347723T>ACA394169040BAIAP3c.2109T>A
c.*121T>A (n.*121T>A)
n.3191T>A
n.3546T>A
n.1708T>A
c.2927T>A (p.Phe976Tyr)
c.*1110T>A (n.*1110T>A)
c.2864T>A (p.Phe955Tyr)
c.1586T>A (p.Phe529Tyr)
c.1523T>A (p.Phe508Tyr)
c.*968T>A (n.*968T>A)
c.245T>A (p.Phe82Tyr)
n.3269T>A
c.3032T>A (p.Phe1011Tyr)
c.2978T>A (p.Phe993Tyr)
c.2819T>A (p.Phe940Tyr)
c.2858T>A (p.Phe953Tyr)
c.626+1503T>A
n.413T>A
c.2843T>A (p.Phe948Tyr)
c.3083T>A (p.Phe1028Tyr)
16g.1347723T>CCA394169043BAIAP3c.2109T>C
c.*121T>C (n.*121T>C)
n.3191T>C
n.3546T>C
n.1708T>C
c.2927T>C (p.Phe976Ser)
c.*1110T>C (n.*1110T>C)
c.2864T>C (p.Phe955Ser)
c.1586T>C (p.Phe529Ser)
c.1523T>C (p.Phe508Ser)
c.*968T>C (n.*968T>C)
c.245T>C (p.Phe82Ser)
n.3269T>C
c.3032T>C (p.Phe1011Ser)
c.2978T>C (p.Phe993Ser)
c.2819T>C (p.Phe940Ser)
c.2858T>C (p.Phe953Ser)
c.626+1503T>C
n.413T>C
c.2843T>C (p.Phe948Ser)
c.3083T>C (p.Phe1028Ser)
16g.1347723T>GCA394169046BAIAP3c.2109T>G
c.*121T>G (n.*121T>G)
n.3191T>G
n.3546T>G
n.1708T>G
c.2927T>G (p.Phe976Cys)
c.*1110T>G (n.*1110T>G)
c.2864T>G (p.Phe955Cys)
c.1586T>G (p.Phe529Cys)
c.1523T>G (p.Phe508Cys)
c.*968T>G (n.*968T>G)
c.245T>G (p.Phe82Cys)
n.3269T>G
c.3032T>G (p.Phe1011Cys)
c.2978T>G (p.Phe993Cys)
c.2819T>G (p.Phe940Cys)
c.2858T>G (p.Phe953Cys)
c.626+1503T>G
n.413T>G
c.2843T>G (p.Phe948Cys)
c.3083T>G (p.Phe1028Cys)
16g.1347724T>ACA394169051BAIAP3c.2110T>A
c.*122T>A (n.*122T>A)
n.3192T>A
n.3547T>A
n.1709T>A
c.2928T>A (p.Phe976Leu)
c.*1111T>A (n.*1111T>A)
c.2865T>A (p.Phe955Leu)
c.1587T>A (p.Phe529Leu)
c.1524T>A (p.Phe508Leu)
c.*969T>A (n.*969T>A)
c.246T>A (p.Phe82Leu)
n.3270T>A
c.3033T>A (p.Phe1011Leu)
c.2979T>A (p.Phe993Leu)
c.2820T>A (p.Phe940Leu)
c.2859T>A (p.Phe953Leu)
c.626+1504T>A
n.414T>A
c.2844T>A (p.Phe948Leu)
c.3084T>A (p.Phe1028Leu)
16g.1347724T>CCA493025844BAIAP3c.2110T>C
c.*122T>C (n.*122T>C)
n.3192T>C
n.3547T>C
n.1709T>C
c.2928T>C (p.Phe976=)
c.*1111T>C (n.*1111T>C)
c.2865T>C (p.Phe955=)
c.1587T>C (p.Phe529=)
c.1524T>C (p.Phe508=)
c.*969T>C (n.*969T>C)
c.246T>C (p.Phe82=)
n.3270T>C
c.3033T>C (p.Phe1011=)
c.2979T>C (p.Phe993=)
c.2820T>C (p.Phe940=)
c.2859T>C (p.Phe953=)
c.626+1504T>C
n.414T>C
c.2844T>C (p.Phe948=)
c.3084T>C (p.Phe1028=)
 gnomAD v4
16g.1347724T>GCA394169055BAIAP3c.2110T>G
c.*122T>G (n.*122T>G)
n.3192T>G
n.3547T>G
n.1709T>G
c.2928T>G (p.Phe976Leu)
c.*1111T>G (n.*1111T>G)
c.2865T>G (p.Phe955Leu)
c.1587T>G (p.Phe529Leu)
c.1524T>G (p.Phe508Leu)
c.*969T>G (n.*969T>G)
c.246T>G (p.Phe82Leu)
n.3270T>G
c.3033T>G (p.Phe1011Leu)
c.2979T>G (p.Phe993Leu)
c.2820T>G (p.Phe940Leu)
c.2859T>G (p.Phe953Leu)
c.626+1504T>G
n.414T>G
c.2844T>G (p.Phe948Leu)
c.3084T>G (p.Phe1028Leu)
16g.1347725G>ACA394169057BAIAP3c.2111G>A
c.*123G>A (n.*123G>A)
n.3193G>A
n.3548G>A
n.1710G>A
c.2929G>A (p.Gly977Arg)
c.*1112G>A (n.*1112G>A)
c.2866G>A (p.Gly956Arg)
c.1588G>A (p.Gly530Arg)
c.1525G>A (p.Gly509Arg)
c.*970G>A (n.*970G>A)
c.247G>A (p.Gly83Arg)
n.3271G>A
c.3034G>A (p.Gly1012Arg)
c.2980G>A (p.Gly994Arg)
c.2821G>A (p.Gly941Arg)
c.2860G>A (p.Gly954Arg)
c.626+1505G>A
n.415G>A
c.2845G>A (p.Gly949Arg)
c.3085G>A (p.Gly1029Arg)
16g.1347725G>CCA394169061BAIAP3c.2111G>C
c.*123G>C (n.*123G>C)
n.3193G>C
n.3548G>C
n.1710G>C
c.2929G>C (p.Gly977Arg)
c.*1112G>C (n.*1112G>C)
c.2866G>C (p.Gly956Arg)
c.1588G>C (p.Gly530Arg)
c.1525G>C (p.Gly509Arg)
c.*970G>C (n.*970G>C)
c.247G>C (p.Gly83Arg)
n.3271G>C
c.3034G>C (p.Gly1012Arg)
c.2980G>C (p.Gly994Arg)
c.2821G>C (p.Gly941Arg)
c.2860G>C (p.Gly954Arg)
c.626+1505G>C
n.415G>C
c.2845G>C (p.Gly949Arg)
c.3085G>C (p.Gly1029Arg)
16g.1347725G>TCA394169066BAIAP3c.2111G>T
c.*123G>T (n.*123G>T)
n.3193G>T
n.3548G>T
n.1710G>T
c.2929G>T (p.Gly977Ter)
c.*1112G>T (n.*1112G>T)
c.2866G>T (p.Gly956Ter)
c.1588G>T (p.Gly530Ter)
c.1525G>T (p.Gly509Ter)
c.*970G>T (n.*970G>T)
c.247G>T (p.Gly83Ter)
n.3271G>T
c.3034G>T (p.Gly1012Ter)
c.2980G>T (p.Gly994Ter)
c.2821G>T (p.Gly941Ter)
c.2860G>T (p.Gly954Ter)
c.626+1505G>T
n.415G>T
c.2845G>T (p.Gly949Ter)
c.3085G>T (p.Gly1029Ter)
16g.1347726G>ACA394169080BAIAP3c.2112G>A
c.*124G>A (n.*124G>A)
n.3194G>A
n.3549G>A
n.1711G>A
c.2930G>A (p.Gly977Glu)
c.*1113G>A (n.*1113G>A)
c.2867G>A (p.Gly956Glu)
c.1589G>A (p.Gly530Glu)
c.1526G>A (p.Gly509Glu)
c.*971G>A (n.*971G>A)
c.248G>A (p.Gly83Glu)
n.3272G>A
c.3035G>A (p.Gly1012Glu)
c.2981G>A (p.Gly994Glu)
c.2822G>A (p.Gly941Glu)
c.2861G>A (p.Gly954Glu)
c.626+1506G>A
n.416G>A
c.2846G>A (p.Gly949Glu)
c.3086G>A (p.Gly1029Glu)
 gnomAD v4
16g.1347726G>CCA394169076BAIAP3c.2112G>C
c.*124G>C (n.*124G>C)
n.3194G>C
n.3549G>C
n.1711G>C
c.2930G>C (p.Gly977Ala)
c.*1113G>C (n.*1113G>C)
c.2867G>C (p.Gly956Ala)
c.1589G>C (p.Gly530Ala)
c.1526G>C (p.Gly509Ala)
c.*971G>C (n.*971G>C)
c.248G>C (p.Gly83Ala)
n.3272G>C
c.3035G>C (p.Gly1012Ala)
c.2981G>C (p.Gly994Ala)
c.2822G>C (p.Gly941Ala)
c.2861G>C (p.Gly954Ala)
c.626+1506G>C
n.416G>C
c.2846G>C (p.Gly949Ala)
c.3086G>C (p.Gly1029Ala)
16g.1347726G>TCA394169074BAIAP3c.2112G>T
c.*124G>T (n.*124G>T)
n.3194G>T
n.3549G>T
n.1711G>T
c.2930G>T (p.Gly977Val)
c.*1113G>T (n.*1113G>T)
c.2867G>T (p.Gly956Val)
c.1589G>T (p.Gly530Val)
c.1526G>T (p.Gly509Val)
c.*971G>T (n.*971G>T)
c.248G>T (p.Gly83Val)
n.3272G>T
c.3035G>T (p.Gly1012Val)
c.2981G>T (p.Gly994Val)
c.2822G>T (p.Gly941Val)
c.2861G>T (p.Gly954Val)
c.626+1506G>T
n.416G>T
c.2846G>T (p.Gly949Val)
c.3086G>T (p.Gly1029Val)
16g.1347727A>CCA493025845BAIAP3c.2113A>C
c.*125A>C (n.*125A>C)
n.3195A>C
n.3550A>C
n.1712A>C
c.2931A>C (p.Gly977=)
c.*1114A>C (n.*1114A>C)
c.2868A>C (p.Gly956=)
c.1590A>C (p.Gly530=)
c.1527A>C (p.Gly509=)
c.*972A>C (n.*972A>C)
c.249A>C (p.Gly83=)
n.3273A>C
c.3036A>C (p.Gly1012=)
c.2982A>C (p.Gly994=)
c.2823A>C (p.Gly941=)
c.2862A>C (p.Gly954=)
c.626+1507A>C
n.417A>C
c.2847A>C (p.Gly949=)
c.3087A>C (p.Gly1029=)
16g.1347727A>GCA493025846BAIAP3c.2113A>G
c.*125A>G (n.*125A>G)
n.3195A>G
n.3550A>G
n.1712A>G
c.2931A>G (p.Gly977=)
c.*1114A>G (n.*1114A>G)
c.2868A>G (p.Gly956=)
c.1590A>G (p.Gly530=)
c.1527A>G (p.Gly509=)
c.*972A>G (n.*972A>G)
c.249A>G (p.Gly83=)
n.3273A>G
c.3036A>G (p.Gly1012=)
c.2982A>G (p.Gly994=)
c.2823A>G (p.Gly941=)
c.2862A>G (p.Gly954=)
c.626+1507A>G
n.417A>G
c.2847A>G (p.Gly949=)
c.3087A>G (p.Gly1029=)
16g.1347727A>TCA493025847BAIAP3c.2113A>T
c.*125A>T (n.*125A>T)
n.3195A>T
n.3550A>T
n.1712A>T
c.2931A>T (p.Gly977=)
c.*1114A>T (n.*1114A>T)
c.2868A>T (p.Gly956=)
c.1590A>T (p.Gly530=)
c.1527A>T (p.Gly509=)
c.*972A>T (n.*972A>T)
c.249A>T (p.Gly83=)
n.3273A>T
c.3036A>T (p.Gly1012=)
c.2982A>T (p.Gly994=)
c.2823A>T (p.Gly941=)
c.2862A>T (p.Gly954=)
c.626+1507A>T
n.417A>T
c.2847A>T (p.Gly949=)
c.3087A>T (p.Gly1029=)

Number of alleles fetched