Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.51139037T>ACA395881520SALL1c.3185A>T (p.Glu1062Val)
c.2894A>T (p.Glu965Val)
c.77-1485A>T (n.77-1485A>T)
16g.51139037T>CCA395881524SALL1c.3185A>G (p.Glu1062Gly)
c.2894A>G (p.Glu965Gly)
c.77-1485A>G (n.77-1485A>G)
gnomAD v4
16g.51139037T>GCA395881523SALL1c.3185A>C (p.Glu1062Ala)
c.2894A>C (p.Glu965Ala)
c.77-1485A>C (n.77-1485A>C)
16g.51139038C>ACA395881528SALL1c.3184G>T (p.Glu1062Ter)
c.2893G>T (p.Glu965Ter)
c.77-1486G>T (n.77-1486G>T)
16g.51139038C>GCA395881530SALL1c.3184G>C (p.Glu1062Gln)
c.2893G>C (p.Glu965Gln)
c.77-1486G>C (n.77-1486G>C)
16g.51139038C>TCA395881532SALL1c.3184G>A (p.Glu1062Lys)
c.2893G>A (p.Glu965Lys)
c.77-1486G>A (n.77-1486G>A)
COSMIC
16g.51139039A=CA2222017287SALL1c.3183T= (p.Phe1061=)
c.2892T= (p.Phe964=)
c.77-1487T= (n.77-1487T=)
16g.51139039A>CCA395881536SALL1c.3183T>G (p.Phe1061Leu)
c.2892T>G (p.Phe964Leu)
c.77-1487T>G (n.77-1487T>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.51139039A>GCA495780017SALL1c.3183T>C (p.Phe1061=)
c.2892T>C (p.Phe964=)
c.77-1487T>C (n.77-1487T>C)
16g.51139039A>TCA395881538SALL1c.3183T>A (p.Phe1061Leu)
c.2892T>A (p.Phe964Leu)
c.77-1487T>A (n.77-1487T>A)
16g.51139040A>CCA395881539SALL1c.3182T>G (p.Phe1061Cys)
c.2891T>G (p.Phe964Cys)
c.77-1488T>G (n.77-1488T>G)
16g.51139040A>GCA395881540SALL1c.3182T>C (p.Phe1061Ser)
c.2891T>C (p.Phe964Ser)
c.77-1488T>C (n.77-1488T>C)
16g.51139040A>TCA395881541SALL1c.3182T>A (p.Phe1061Tyr)
c.2891T>A (p.Phe964Tyr)
c.77-1488T>A (n.77-1488T>A)
16g.51139041A>CCA395881542SALL1c.3181T>G (p.Phe1061Val)
c.2890T>G (p.Phe964Val)
c.77-1489T>G (n.77-1489T>G)
16g.51139041A>GCA395881543SALL1c.3181T>C (p.Phe1061Leu)
c.2890T>C (p.Phe964Leu)
c.77-1489T>C (n.77-1489T>C)
16g.51139041A>TCA395881545SALL1c.3181T>A (p.Phe1061Ile)
c.2890T>A (p.Phe964Ile)
c.77-1489T>A (n.77-1489T>A)
16g.51139042G>ACA281300755SALL1c.3180C>T (p.Leu1060=)
c.2889C>T (p.Leu963=)
c.77-1490C>T (n.77-1490C>T)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.51139042G>CCA495780021SALL1c.3180C>G (p.Leu1060=)
c.2889C>G (p.Leu963=)
c.77-1490C>G (n.77-1490C>G)
gnomAD v4
16g.51139042G=CA2222017296SALL1c.3180C= (p.Leu1060=)
c.2889C= (p.Leu963=)
c.77-1490C= (n.77-1490C=)
16g.51139042G>TCA8052980SALL1c.3180C>A (p.Leu1060=)
c.2889C>A (p.Leu963=)
c.77-1490C>A (n.77-1490C>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.51139043A>CCA395881549SALL1c.3179T>G (p.Leu1060Arg)
c.2888T>G (p.Leu963Arg)
c.77-1491T>G (n.77-1491T>G)
16g.51139043A>GCA395881547SALL1c.3179T>C (p.Leu1060Pro)
c.2888T>C (p.Leu963Pro)
c.77-1491T>C (n.77-1491T>C)
16g.51139043A>TCA395881551SALL1c.3179T>A (p.Leu1060His)
c.2888T>A (p.Leu963His)
c.77-1491T>A (n.77-1491T>A)
16g.51139044G>ACA8052981SALL1c.3178C>T (p.Leu1060Phe)
c.2887C>T (p.Leu963Phe)
c.77-1492C>T (n.77-1492C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.51139044G>CCA395881558SALL1c.3178C>G (p.Leu1060Val)
c.2887C>G (p.Leu963Val)
c.77-1492C>G (n.77-1492C>G)
16g.51139044G=CA2222017306SALL1c.3178C= (p.Leu1060=)
c.2887C= (p.Leu963=)
c.77-1492C= (n.77-1492C=)
16g.51139044G>TCA395881559SALL1c.3178C>A (p.Leu1060Ile)
c.2887C>A (p.Leu963Ile)
c.77-1492C>A (n.77-1492C>A)
16g.51139045C>ACA395881562SALL1c.3177G>T (p.Gln1059His)
c.2886G>T (p.Gln962His)
c.77-1493G>T (n.77-1493G>T)
16g.51139045C=CA2222017322SALL1c.3177G= (p.Gln1059=)
c.2886G= (p.Gln962=)
c.77-1493G= (n.77-1493G=)
16g.51139045C>GCA395881564SALL1c.3177G>C (p.Gln1059His)
c.2886G>C (p.Gln962His)
c.77-1493G>C (n.77-1493G>C)
dbSNP gnomAD v2 gnomAD v4
16g.51139045C>TCA8052982SALL1c.3177G>A (p.Gln1059=)
c.2886G>A (p.Gln962=)
c.77-1493G>A (n.77-1493G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.51139046T>ACA395881572SALL1c.3176A>T (p.Gln1059Leu)
c.2885A>T (p.Gln962Leu)
c.77-1494A>T (n.77-1494A>T)
16g.51139046T>CCA395881570SALL1c.3176A>G (p.Gln1059Arg)
c.2885A>G (p.Gln962Arg)
c.77-1494A>G (n.77-1494A>G)
16g.51139046T>GCA395881568SALL1c.3176A>C (p.Gln1059Pro)
c.2885A>C (p.Gln962Pro)
c.77-1494A>C (n.77-1494A>C)
16g.51139047G>ACA395881574SALL1c.3175C>T (p.Gln1059Ter)
c.2884C>T (p.Gln962Ter)
c.77-1495C>T (n.77-1495C>T)
16g.51139047G>CCA395881575SALL1c.3175C>G (p.Gln1059Glu)
c.2884C>G (p.Gln962Glu)
c.77-1495C>G (n.77-1495C>G)
16g.51139047G>TCA395881576SALL1c.3175C>A (p.Gln1059Lys)
c.2884C>A (p.Gln962Lys)
c.77-1495C>A (n.77-1495C>A)
16g.51139048G>ACA495780023SALL1c.3174C>T (p.Ser1058=)
c.2883C>T (p.Ser961=)
c.77-1496C>T (n.77-1496C>T)
gnomAD v4 COSMIC
16g.51139048G>CCA495780024SALL1c.3174C>G (p.Ser1058=)
c.2883C>G (p.Ser961=)
c.77-1496C>G (n.77-1496C>G)
16g.51139048G>TCA495780025SALL1c.3174C>A (p.Ser1058=)
c.2883C>A (p.Ser961=)
c.77-1496C>A (n.77-1496C>A)
gnomAD v3 gnomAD v4
16g.51139049G>ACA395881577SALL1c.3173C>T (p.Ser1058Phe)
c.2882C>T (p.Ser961Phe)
c.77-1497C>T (n.77-1497C>T)
16g.51139049G>CCA395881578SALL1c.3173C>G (p.Ser1058Cys)
c.2882C>G (p.Ser961Cys)
c.77-1497C>G (n.77-1497C>G)
ClinVar dbSNP
16g.51139049G>TCA395881580SALL1c.3173C>A (p.Ser1058Tyr)
c.2882C>A (p.Ser961Tyr)
c.77-1497C>A (n.77-1497C>A)
16g.51139050A>CCA395881589SALL1c.3172T>G (p.Ser1058Ala)
c.2881T>G (p.Ser961Ala)
c.77-1498T>G (n.77-1498T>G)
16g.51139050A>GCA395881582SALL1c.3172T>C (p.Ser1058Pro)
c.2881T>C (p.Ser961Pro)
c.77-1498T>C (n.77-1498T>C)
16g.51139050A>TCA395881587SALL1c.3172T>A (p.Ser1058Thr)
c.2881T>A (p.Ser961Thr)
c.77-1498T>A (n.77-1498T>A)
16g.51139051T>ACA495780026SALL1c.3171A>T (p.Pro1057=)
c.2880A>T (p.Pro960=)
c.77-1499A>T (n.77-1499A>T)
16g.51139051T>CCA495780027SALL1c.3171A>G (p.Pro1057=)
c.2880A>G (p.Pro960=)
c.77-1499A>G (n.77-1499A>G)
dbSNP gnomAD v2 gnomAD v4
16g.51139051T>GCA495780028SALL1c.3171A>C (p.Pro1057=)
c.2880A>C (p.Pro960=)
c.77-1499A>C (n.77-1499A>C)
16g.51139051T=CA2222017327SALL1c.3171A= (p.Pro1057=)
c.2880A= (p.Pro960=)
c.77-1499A= (n.77-1499A=)
16g.51139052G>ACA395881592SALL1c.3170C>T (p.Pro1057Leu)
c.2879C>T (p.Pro960Leu)
c.77-1500C>T (n.77-1500C>T)
16g.51139052G>CCA395881599SALL1c.3170C>G (p.Pro1057Arg)
c.2879C>G (p.Pro960Arg)
c.77-1500C>G (n.77-1500C>G)
16g.51139052G>TCA395881602SALL1c.3170C>A (p.Pro1057Gln)
c.2879C>A (p.Pro960Gln)
c.77-1500C>A (n.77-1500C>A)
16g.51139053G>ACA395881604SALL1c.3169C>T (p.Pro1057Ser)
c.2878C>T (p.Pro960Ser)
c.77-1501C>T (n.77-1501C>T)
16g.51139053G>CCA395881606SALL1c.3169C>G (p.Pro1057Ala)
c.2878C>G (p.Pro960Ala)
c.77-1501C>G (n.77-1501C>G)
16g.51139053G>TCA395881608SALL1c.3169C>A (p.Pro1057Thr)
c.2878C>A (p.Pro960Thr)
c.77-1501C>A (n.77-1501C>A)
16g.51139054delCA2695223341SALL1c.3168del (p.Pro1057HisfsTer19)
c.2877del (p.Pro960HisfsTer19)
c.77-1502del (n.77-1502del)
16g.51139054C>ACA495780030SALL1c.3168G>T (p.Leu1056=)
c.2877G>T (p.Leu959=)
c.77-1502G>T (n.77-1502G>T)
16g.51139054C>GCA495780031SALL1c.3168G>C (p.Leu1056=)
c.2877G>C (p.Leu959=)
c.77-1502G>C (n.77-1502G>C)
16g.51139054C>TCA495780032SALL1c.3168G>A (p.Leu1056=)
c.2877G>A (p.Leu959=)
c.77-1502G>A (n.77-1502G>A)
dbSNP gnomAD v4
16g.51139055A>CCA395881611SALL1c.3167T>G (p.Leu1056Arg)
c.2876T>G (p.Leu959Arg)
c.77-1503T>G (n.77-1503T>G)
16g.51139055A>GCA395881613SALL1c.3167T>C (p.Leu1056Pro)
c.2876T>C (p.Leu959Pro)
c.77-1503T>C (n.77-1503T>C)
16g.51139055A>TCA395881614SALL1c.3167T>A (p.Leu1056Gln)
c.2876T>A (p.Leu959Gln)
c.77-1503T>A (n.77-1503T>A)
16g.51139056G>ACA495780033SALL1c.3166C>T (p.Leu1056=)
c.2875C>T (p.Leu959=)
c.77-1504C>T (n.77-1504C>T)
dbSNP gnomAD v4 COSMIC
16g.51139056G>CCA395881616SALL1c.3166C>G (p.Leu1056Val)
c.2875C>G (p.Leu959Val)
c.77-1504C>G (n.77-1504C>G)
16g.51139056G=CA2222017330SALL1c.3166C= (p.Leu1056=)
c.2875C= (p.Leu959=)
c.77-1504C= (n.77-1504C=)
16g.51139056G>TCA395881619SALL1c.3166C>A (p.Leu1056Met)
c.2875C>A (p.Leu959Met)
c.77-1504C>A (n.77-1504C>A)
16g.51139057A>CCA395881621SALL1c.3165T>G (p.Asp1055Glu)
c.2874T>G (p.Asp958Glu)
c.77-1505T>G (n.77-1505T>G)
16g.51139057A>GCA495780035SALL1c.3165T>C (p.Asp1055=)
c.2874T>C (p.Asp958=)
c.77-1505T>C (n.77-1505T>C)
16g.51139057A>TCA395881623SALL1c.3165T>A (p.Asp1055Glu)
c.2874T>A (p.Asp958Glu)
c.77-1505T>A (n.77-1505T>A)
16g.51139058T>ACA281300783SALL1c.3164A>T (p.Asp1055Val)
c.2873A>T (p.Asp958Val)
c.77-1506A>T (n.77-1506A>T)
dbSNP
16g.51139058T>CCA395881628SALL1c.3164A>G (p.Asp1055Gly)
c.2873A>G (p.Asp958Gly)
c.77-1506A>G (n.77-1506A>G)
16g.51139058T>GCA395881626SALL1c.3164A>C (p.Asp1055Ala)
c.2873A>C (p.Asp958Ala)
c.77-1506A>C (n.77-1506A>C)
16g.51139058T=CA2222017336SALL1c.3164A= (p.Asp1055=)
c.2873A= (p.Asp958=)
c.77-1506A= (n.77-1506A=)
16g.51139059C>ACA395881631SALL1c.3163G>T (p.Asp1055Tyr)
c.2872G>T (p.Asp958Tyr)
c.77-1507G>T (n.77-1507G>T)
16g.51139059C=CA2222017338SALL1c.3163G= (p.Asp1055=)
c.2872G= (p.Asp958=)
c.77-1507G= (n.77-1507G=)
16g.51139059C>GCA8052983SALL1c.3163G>C (p.Asp1055His)
c.2872G>C (p.Asp958His)
c.77-1507G>C (n.77-1507G>C)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.51139059C>TCA395881636SALL1c.3163G>A (p.Asp1055Asn)
c.2872G>A (p.Asp958Asn)
c.77-1507G>A (n.77-1507G>A)
16g.51139060T>ACA495780036SALL1c.3162A>T (p.Arg1054=)
c.2871A>T (p.Arg957=)
c.77-1508A>T (n.77-1508A>T)
16g.51139060T>CCA495780037SALL1c.3162A>G (p.Arg1054=)
c.2871A>G (p.Arg957=)
c.77-1508A>G (n.77-1508A>G)
16g.51139060T>GCA495780038SALL1c.3162A>C (p.Arg1054=)
c.2871A>C (p.Arg957=)
c.77-1508A>C (n.77-1508A>C)
16g.51139061C>ACA395881638SALL1c.3161G>T (p.Arg1054Leu)
c.2870G>T (p.Arg957Leu)
c.77-1509G>T (n.77-1509G>T)
16g.51139061C=CA2222017343SALL1c.3161G= (p.Arg1054=)
c.2870G= (p.Arg957=)
c.77-1509G= (n.77-1509G=)
16g.51139061C>GCA8052984SALL1c.3161G>C (p.Arg1054Pro)
c.2870G>C (p.Arg957Pro)
c.77-1509G>C (n.77-1509G>C)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.51139061C>TCA395881641SALL1c.3161G>A (p.Arg1054Gln)
c.2870G>A (p.Arg957Gln)
c.77-1509G>A (n.77-1509G>A)
dbSNP COSMIC
16g.51139062G>ACA347917SALL1c.3160C>T (p.Arg1054Ter)
c.2869C>T (p.Arg957Ter)
c.77-1510C>T (n.77-1510C>T)
ClinVar dbSNP COSMIC
16g.51139062G>CCA395881644SALL1c.3160C>G (p.Arg1054Gly)
c.2869C>G (p.Arg957Gly)
c.77-1510C>G (n.77-1510C>G)
16g.51139062G=CA2222017353SALL1c.3160C= (p.Arg1054=)
c.2869C= (p.Arg957=)
c.77-1510C= (n.77-1510C=)
16g.51139062G>TCA495780041SALL1c.3160C>A (p.Arg1054=)
c.2869C>A (p.Arg957=)
c.77-1510C>A (n.77-1510C>A)
gnomAD v4
16g.51139063C>ACA395881648SALL1c.3159G>T (p.Met1053Ile)
c.2868G>T (p.Met956Ile)
c.77-1511G>T (n.77-1511G>T)
16g.51139063C>GCA395881651SALL1c.3159G>C (p.Met1053Ile)
c.2868G>C (p.Met956Ile)
c.77-1511G>C (n.77-1511G>C)
16g.51139063C>TCA395881652SALL1c.3159G>A (p.Met1053Ile)
c.2868G>A (p.Met956Ile)
c.77-1511G>A (n.77-1511G>A)
gnomAD v4
16g.51139064A>CCA395881655SALL1c.3158T>G (p.Met1053Arg)
c.2867T>G (p.Met956Arg)
c.77-1512T>G (n.77-1512T>G)
16g.51139064A>GCA395881657SALL1c.3158T>C (p.Met1053Thr)
c.2867T>C (p.Met956Thr)
c.77-1512T>C (n.77-1512T>C)
gnomAD v4
16g.51139064A>TCA395881660SALL1c.3158T>A (p.Met1053Lys)
c.2867T>A (p.Met956Lys)
c.77-1512T>A (n.77-1512T>A)
16g.51139065T>ACA395881662SALL1c.3157A>T (p.Met1053Leu)
c.2866A>T (p.Met956Leu)
c.77-1513A>T (n.77-1513A>T)
16g.51139065T>CCA395881664SALL1c.3157A>G (p.Met1053Val)
c.2866A>G (p.Met956Val)
c.77-1513A>G (n.77-1513A>G)
gnomAD v4
16g.51139065T>GCA16607036SALL1c.3157A>C (p.Met1053Leu)
c.2866A>C (p.Met956Leu)
c.77-1513A>C (n.77-1513A>C)
ClinVar dbSNP
16g.51139065T=CA2222017359SALL1c.3157A= (p.Met1053=)
c.2866A= (p.Met956=)
c.77-1513A= (n.77-1513A=)
16g.51139066C>ACA395881667SALL1c.3156G>T (p.Gln1052His)
c.2865G>T (p.Gln955His)
c.77-1514G>T (n.77-1514G>T)
16g.51139066C=CA2222017366SALL1c.3156G= (p.Gln1052=)
c.2865G= (p.Gln955=)
c.77-1514G= (n.77-1514G=)
16g.51139066C>GCA281300818SALL1c.3156G>C (p.Gln1052His)
c.2865G>C (p.Gln955His)
c.77-1514G>C (n.77-1514G>C)
dbSNP
16g.51139066C>TCA495780043SALL1c.3156G>A (p.Gln1052=)
c.2865G>A (p.Gln955=)
c.77-1514G>A (n.77-1514G>A)
16g.51139067T>ACA395881671SALL1c.3155A>T (p.Gln1052Leu)
c.2864A>T (p.Gln955Leu)
c.77-1515A>T (n.77-1515A>T)
16g.51139067T>CCA395881673SALL1c.3155A>G (p.Gln1052Arg)
c.2864A>G (p.Gln955Arg)
c.77-1515A>G (n.77-1515A>G)
dbSNP gnomAD v2
16g.51139067T>GCA395881676SALL1c.3155A>C (p.Gln1052Pro)
c.2864A>C (p.Gln955Pro)
c.77-1515A>C (n.77-1515A>C)
16g.51139067T=CA2222017367SALL1c.3155A= (p.Gln1052=)
c.2864A= (p.Gln955=)
c.77-1515A= (n.77-1515A=)
16g.51139068G>ACA16042991SALL1c.3154C>T (p.Gln1052Ter)
c.2863C>T (p.Gln955Ter)
c.77-1516C>T (n.77-1516C>T)
ClinVar dbSNP COSMIC
16g.51139068G>CCA395881681SALL1c.3154C>G (p.Gln1052Glu)
c.2863C>G (p.Gln955Glu)
c.77-1516C>G (n.77-1516C>G)
gnomAD v4
16g.51139068G=CA2222017373SALL1c.3154C= (p.Gln1052=)
c.2863C= (p.Gln955=)
c.77-1516C= (n.77-1516C=)
16g.51139068G>TCA395881683SALL1c.3154C>A (p.Gln1052Lys)
c.2863C>A (p.Gln955Lys)
c.77-1516C>A (n.77-1516C>A)
16g.51139069A>CCA395881685SALL1c.3153T>G (p.His1051Gln)
c.2862T>G (p.His954Gln)
c.77-1517T>G (n.77-1517T>G)
16g.51139069A>GCA495779868SALL1c.3153T>C (p.His1051=)
c.2862T>C (p.His954=)
c.77-1517T>C (n.77-1517T>C)
16g.51139069A>TCA395881687SALL1c.3153T>A (p.His1051Gln)
c.2862T>A (p.His954Gln)
c.77-1517T>A (n.77-1517T>A)
gnomAD v4
16g.51139070T>ACA395881691SALL1c.3152A>T (p.His1051Leu)
c.2861A>T (p.His954Leu)
c.77-1518A>T (n.77-1518A>T)
16g.51139070T>CCA395881694SALL1c.3152A>G (p.His1051Arg)
c.2861A>G (p.His954Arg)
c.77-1518A>G (n.77-1518A>G)
16g.51139070T>GCA395881692SALL1c.3152A>C (p.His1051Pro)
c.2861A>C (p.His954Pro)
c.77-1518A>C (n.77-1518A>C)
16g.51139071G>ACA395881696SALL1c.3151C>T (p.His1051Tyr)
c.2860C>T (p.His954Tyr)
c.77-1519C>T (n.77-1519C>T)
16g.51139071G>CCA395881702SALL1c.3151C>G (p.His1051Asp)
c.2860C>G (p.His954Asp)
c.77-1519C>G (n.77-1519C>G)
16g.51139071G>TCA395881699SALL1c.3151C>A (p.His1051Asn)
c.2860C>A (p.His954Asn)
c.77-1519C>A (n.77-1519C>A)
16g.51139072T>ACA495779873SALL1c.3150A>T (p.Thr1050=)
c.2859A>T (p.Thr953=)
c.77-1520A>T (n.77-1520A>T)
16g.51139072T>CCA495779874SALL1c.3150A>G (p.Thr1050=)
c.2859A>G (p.Thr953=)
c.77-1520A>G (n.77-1520A>G)
dbSNP gnomAD v3 gnomAD v4
16g.51139072T>GCA495779875SALL1c.3150A>C (p.Thr1050=)
c.2859A>C (p.Thr953=)
c.77-1520A>C (n.77-1520A>C)
gnomAD v4
16g.51139072T=CA2222017378SALL1c.3150A= (p.Thr1050=)
c.2859A= (p.Thr953=)
c.77-1520A= (n.77-1520A=)
16g.51139073G>ACA395881705SALL1c.3149C>T (p.Thr1050Ile)
c.2858C>T (p.Thr953Ile)
c.77-1521C>T (n.77-1521C>T)
COSMIC
16g.51139073G>CCA395881708SALL1c.3149C>G (p.Thr1050Arg)
c.2858C>G (p.Thr953Arg)
c.77-1521C>G (n.77-1521C>G)
16g.51139073G>TCA395881711SALL1c.3149C>A (p.Thr1050Lys)
c.2858C>A (p.Thr953Lys)
c.77-1521C>A (n.77-1521C>A)
16g.51139074T>ACA395881714SALL1c.3148A>T (p.Thr1050Ser)
c.2857A>T (p.Thr953Ser)
c.77-1522A>T (n.77-1522A>T)
16g.51139074T>CCA395881715SALL1c.3148A>G (p.Thr1050Ala)
c.2857A>G (p.Thr953Ala)
c.77-1522A>G (n.77-1522A>G)
16g.51139074T>GCA395881716SALL1c.3148A>C (p.Thr1050Pro)
c.2857A>C (p.Thr953Pro)
c.77-1522A>C (n.77-1522A>C)
16g.51139075C>ACA395881717SALL1c.3147G>T (p.Leu1049Phe)
c.2856G>T (p.Leu952Phe)
c.77-1523G>T (n.77-1523G>T)
16g.51139075C>GCA395881718SALL1c.3147G>C (p.Leu1049Phe)
c.2856G>C (p.Leu952Phe)
c.77-1523G>C (n.77-1523G>C)
16g.51139075C>TCA495779880SALL1c.3147G>A (p.Leu1049=)
c.2856G>A (p.Leu952=)
c.77-1523G>A (n.77-1523G>A)
16g.51139076A>CCA395881721SALL1c.3146T>G (p.Leu1049Trp)
c.2855T>G (p.Leu952Trp)
c.77-1524T>G (n.77-1524T>G)
16g.51139076A>GCA395881726SALL1c.3146T>C (p.Leu1049Ser)
c.2855T>C (p.Leu952Ser)
c.77-1524T>C (n.77-1524T>C)
16g.51139076A>TCA395881729SALL1c.3146T>A (p.Leu1049Ter)
c.2855T>A (p.Leu952Ter)
c.77-1524T>A (n.77-1524T>A)
16g.51139077A>CCA395881733SALL1c.3145T>G (p.Leu1049Val)
c.2854T>G (p.Leu952Val)
c.77-1525T>G (n.77-1525T>G)
16g.51139077A>GCA495779885SALL1c.3145T>C (p.Leu1049=)
c.2854T>C (p.Leu952=)
c.77-1525T>C (n.77-1525T>C)
gnomAD v4
16g.51139077A>TCA395881731SALL1c.3145T>A (p.Leu1049Met)
c.2854T>A (p.Leu952Met)
c.77-1525T>A (n.77-1525T>A)
16g.51139078C>ACA395881735SALL1c.3144G>T (p.Met1048Ile)
c.2853G>T (p.Met951Ile)
c.77-1526G>T (n.77-1526G>T)
16g.51139078C>GCA395881736SALL1c.3144G>C (p.Met1048Ile)
c.2853G>C (p.Met951Ile)
c.77-1526G>C (n.77-1526G>C)
16g.51139078C>TCA395881738SALL1c.3144G>A (p.Met1048Ile)
c.2853G>A (p.Met951Ile)
c.77-1526G>A (n.77-1526G>A)
16g.51139079A=CA2222017383SALL1c.3143T= (p.Met1048=)
c.2852T= (p.Met951=)
c.77-1527T= (n.77-1527T=)
16g.51139079A>CCA8052985SALL1c.3143T>G (p.Met1048Arg)
c.2852T>G (p.Met951Arg)
c.77-1527T>G (n.77-1527T>G)
dbSNP ExAC gnomAD v2
16g.51139079A>GCA395881741SALL1c.3143T>C (p.Met1048Thr)
c.2852T>C (p.Met951Thr)
c.77-1527T>C (n.77-1527T>C)
gnomAD v4
16g.51139079A>TCA395881743SALL1c.3143T>A (p.Met1048Lys)
c.2852T>A (p.Met951Lys)
c.77-1527T>A (n.77-1527T>A)
16g.51139080T>ACA395881747SALL1c.3142A>T (p.Met1048Leu)
c.2851A>T (p.Met951Leu)
c.77-1528A>T (n.77-1528A>T)
16g.51139080T>CCA395881749SALL1c.3142A>G (p.Met1048Val)
c.2851A>G (p.Met951Val)
c.77-1528A>G (n.77-1528A>G)
dbSNP gnomAD v2 gnomAD v4
16g.51139080T>GCA395881751SALL1c.3142A>C (p.Met1048Leu)
c.2851A>C (p.Met951Leu)
c.77-1528A>C (n.77-1528A>C)
16g.51139080T=CA2222017388SALL1c.3142A= (p.Met1048=)
c.2851A= (p.Met951=)
c.77-1528A= (n.77-1528A=)
16g.51139081G>ACA495779890SALL1c.3141C>T (p.His1047=)
c.2850C>T (p.His950=)
c.77-1529C>T (n.77-1529C>T)
dbSNP gnomAD v3 gnomAD v4
16g.51139081G>CCA395881753SALL1c.3141C>G (p.His1047Gln)
c.2850C>G (p.His950Gln)
c.77-1529C>G (n.77-1529C>G)
16g.51139081G=CA2222017393SALL1c.3141C= (p.His1047=)
c.2850C= (p.His950=)
c.77-1529C= (n.77-1529C=)
16g.51139081G>TCA395881755SALL1c.3141C>A (p.His1047Gln)
c.2850C>A (p.His950Gln)
c.77-1529C>A (n.77-1529C>A)
16g.51139082T>ACA395881758SALL1c.3140A>T (p.His1047Leu)
c.2849A>T (p.His950Leu)
c.77-1530A>T (n.77-1530A>T)
16g.51139082T>CCA395881760SALL1c.3140A>G (p.His1047Arg)
c.2849A>G (p.His950Arg)
c.77-1530A>G (n.77-1530A>G)
16g.51139082T>GCA395881756SALL1c.3140A>C (p.His1047Pro)
c.2849A>C (p.His950Pro)
c.77-1530A>C (n.77-1530A>C)
16g.51139083G>ACA395881762SALL1c.3139C>T (p.His1047Tyr)
c.2848C>T (p.His950Tyr)
c.77-1531C>T (n.77-1531C>T)
COSMIC
16g.51139083G>CCA395881764SALL1c.3139C>G (p.His1047Asp)
c.2848C>G (p.His950Asp)
c.77-1531C>G (n.77-1531C>G)
16g.51139083G>TCA395881766SALL1c.3139C>A (p.His1047Asn)
c.2848C>A (p.His950Asn)
c.77-1531C>A (n.77-1531C>A)
16g.51139084C>ACA395881770SALL1c.3138G>T (p.Gln1046His)
c.2847G>T (p.Gln949His)
c.77-1532G>T (n.77-1532G>T)
16g.51139084C>GCA395881772SALL1c.3138G>C (p.Gln1046His)
c.2847G>C (p.Gln949His)
c.77-1532G>C (n.77-1532G>C)
16g.51139084C>TCA495779896SALL1c.3138G>A (p.Gln1046=)
c.2847G>A (p.Gln949=)
c.77-1532G>A (n.77-1532G>A)
16g.51139085T>ACA395881779SALL1c.3137A>T (p.Gln1046Leu)
c.2846A>T (p.Gln949Leu)
c.77-1533A>T (n.77-1533A>T)
16g.51139085T>CCA395881774SALL1c.3137A>G (p.Gln1046Arg)
c.2846A>G (p.Gln949Arg)
c.77-1533A>G (n.77-1533A>G)
16g.51139085T>GCA395881776SALL1c.3137A>C (p.Gln1046Pro)
c.2846A>C (p.Gln949Pro)
c.77-1533A>C (n.77-1533A>C)
16g.51139086G>ACA395881781SALL1c.3136C>T (p.Gln1046Ter)
c.2845C>T (p.Gln949Ter)
c.77-1534C>T (n.77-1534C>T)
16g.51139086G>CCA395881783SALL1c.3136C>G (p.Gln1046Glu)
c.2845C>G (p.Gln949Glu)
c.77-1534C>G (n.77-1534C>G)
16g.51139086G>TCA395881785SALL1c.3136C>A (p.Gln1046Lys)
c.2845C>A (p.Gln949Lys)
c.77-1534C>A (n.77-1534C>A)
16g.51139087C>ACA395881787SALL1c.3135G>T (p.Lys1045Asn)
c.2844G>T (p.Lys948Asn)
c.77-1535G>T (n.77-1535G>T)
16g.51139087C>GCA395881789SALL1c.3135G>C (p.Lys1045Asn)
c.2844G>C (p.Lys948Asn)
c.77-1535G>C (n.77-1535G>C)
16g.51139087C>TCA495779902SALL1c.3135G>A (p.Lys1045=)
c.2844G>A (p.Lys948=)
c.77-1535G>A (n.77-1535G>A)
16g.51139088T>ACA395881791SALL1c.3134A>T (p.Lys1045Met)
c.2843A>T (p.Lys948Met)
c.77-1536A>T (n.77-1536A>T)
16g.51139088T>CCA395881794SALL1c.3134A>G (p.Lys1045Arg)
c.2843A>G (p.Lys948Arg)
c.77-1536A>G (n.77-1536A>G)
16g.51139088T>GCA395881792SALL1c.3134A>C (p.Lys1045Thr)
c.2843A>C (p.Lys948Thr)
c.77-1536A>C (n.77-1536A>C)
16g.51139089T>ACA395881798SALL1c.3133A>T (p.Lys1045Ter)
c.2842A>T (p.Lys948Ter)
c.77-1537A>T (n.77-1537A>T)
16g.51139089T>CCA395881800SALL1c.3133A>G (p.Lys1045Glu)
c.2842A>G (p.Lys948Glu)
c.77-1537A>G (n.77-1537A>G)
16g.51139089T>GCA395881802SALL1c.3133A>C (p.Lys1045Gln)
c.2842A>C (p.Lys948Gln)
c.77-1537A>C (n.77-1537A>C)
16g.51139090C>ACA395881810SALL1c.3132G>T (p.Leu1044Phe)
c.2841G>T (p.Leu947Phe)
c.77-1538G>T (n.77-1538G>T)
16g.51139090C>GCA395881814SALL1c.3132G>C (p.Leu1044Phe)
c.2841G>C (p.Leu947Phe)
c.77-1538G>C (n.77-1538G>C)
16g.51139090C>TCA495779909SALL1c.3132G>A (p.Leu1044=)
c.2841G>A (p.Leu947=)
c.77-1538G>A (n.77-1538G>A)
16g.51139091A>CCA395881818SALL1c.3131T>G (p.Leu1044Trp)
c.2840T>G (p.Leu947Trp)
c.77-1539T>G (n.77-1539T>G)
16g.51139091A>GCA395881821SALL1c.3131T>C (p.Leu1044Ser)
c.2840T>C (p.Leu947Ser)
c.77-1539T>C (n.77-1539T>C)
16g.51139091A>TCA395881824SALL1c.3131T>A (p.Leu1044Ter)
c.2840T>A (p.Leu947Ter)
c.77-1539T>A (n.77-1539T>A)
16g.51139092A=CA2222017398SALL1c.3130T= (p.Leu1044=)
c.2839T= (p.Leu947=)
c.77-1540T= (n.77-1540T=)
16g.51139092A>CCA395881826SALL1c.3130T>G (p.Leu1044Val)
c.2839T>G (p.Leu947Val)
c.77-1540T>G (n.77-1540T>G)
16g.51139092A>GCA495779910SALL1c.3130T>C (p.Leu1044=)
c.2839T>C (p.Leu947=)
c.77-1540T>C (n.77-1540T>C)
dbSNP gnomAD v3 gnomAD v4
16g.51139092A>TCA395881828SALL1c.3130T>A (p.Leu1044Met)
c.2839T>A (p.Leu947Met)
c.77-1540T>A (n.77-1540T>A)
16g.51139093A=CA2222017403SALL1c.3129T= (p.Asn1043=)
c.2838T= (p.Asn946=)
c.77-1541T= (n.77-1541T=)
16g.51139093A>CCA395881830SALL1c.3129T>G (p.Asn1043Lys)
c.2838T>G (p.Asn946Lys)
c.77-1541T>G (n.77-1541T>G)
16g.51139093A>GCA495779914SALL1c.3129T>C (p.Asn1043=)
c.2838T>C (p.Asn946=)
c.77-1541T>C (n.77-1541T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.51139093A>TCA395881831SALL1c.3129T>A (p.Asn1043Lys)
c.2838T>A (p.Asn946Lys)
c.77-1541T>A (n.77-1541T>A)
16g.51139093_51139094delCA2739266761SALL1c.3128_3129del (p.Asn1043IlefsTer19)
c.2837_2838del (p.Asn946IlefsTer19)
c.77-1542_77-1541del (n.77-1542_77-1541del)
ClinVar
16g.51139094T>ACA395881835SALL1c.3128A>T (p.Asn1043Ile)
c.2837A>T (p.Asn946Ile)
c.77-1542A>T (n.77-1542A>T)
16g.51139094T>CCA395881838SALL1c.3128A>G (p.Asn1043Ser)
c.2837A>G (p.Asn946Ser)
c.77-1542A>G (n.77-1542A>G)
16g.51139094T>GCA395881833SALL1c.3128A>C (p.Asn1043Thr)
c.2837A>C (p.Asn946Thr)
c.77-1542A>C (n.77-1542A>C)
16g.51139095T>ACA395881843SALL1c.3127A>T (p.Asn1043Tyr)
c.2836A>T (p.Asn946Tyr)
c.77-1543A>T (n.77-1543A>T)
16g.51139095T>CCA395881841SALL1c.3127A>G (p.Asn1043Asp)
c.2836A>G (p.Asn946Asp)
c.77-1543A>G (n.77-1543A>G)
16g.51139095T>GCA395881847SALL1c.3127A>C (p.Asn1043His)
c.2836A>C (p.Asn946His)
c.77-1543A>C (n.77-1543A>C)
dbSNP gnomAD v3 gnomAD v4
16g.51139095T=CA2222017406SALL1c.3127A= (p.Asn1043=)
c.2836A= (p.Asn946=)
c.77-1543A= (n.77-1543A=)
16g.51139096A>CCA495779918SALL1c.3126T>G (p.Gly1042=)
c.2835T>G (p.Gly945=)
c.77-1544T>G (n.77-1544T>G)
16g.51139096A>GCA495779919SALL1c.3126T>C (p.Gly1042=)
c.2835T>C (p.Gly945=)
c.77-1544T>C (n.77-1544T>C)
16g.51139096A>TCA495779920SALL1c.3126T>A (p.Gly1042=)
c.2835T>A (p.Gly945=)
c.77-1544T>A (n.77-1544T>A)
16g.51139097C>ACA395881849SALL1c.3125G>T (p.Gly1042Val)
c.2834G>T (p.Gly945Val)
c.77-1545G>T (n.77-1545G>T)
16g.51139097C>GCA395881855SALL1c.3125G>C (p.Gly1042Ala)
c.2834G>C (p.Gly945Ala)
c.77-1545G>C (n.77-1545G>C)
16g.51139097C>TCA395881858SALL1c.3125G>A (p.Gly1042Asp)
c.2834G>A (p.Gly945Asp)
c.77-1545G>A (n.77-1545G>A)
16g.51139098C>ACA281300828SALL1c.3124G>T (p.Gly1042Cys)
c.2833G>T (p.Gly945Cys)
c.77-1546G>T (n.77-1546G>T)
dbSNP
16g.51139098C=CA2222017411SALL1c.3124G= (p.Gly1042=)
c.2833G= (p.Gly945=)
c.77-1546G= (n.77-1546G=)
16g.51139098C>GCA395881862SALL1c.3124G>C (p.Gly1042Arg)
c.2833G>C (p.Gly945Arg)
c.77-1546G>C (n.77-1546G>C)
16g.51139098C>TCA395881863SALL1c.3124G>A (p.Gly1042Ser)
c.2833G>A (p.Gly945Ser)
c.77-1546G>A (n.77-1546G>A)
gnomAD v4
16g.51139099C>ACA395881864SALL1c.3123G>T (p.Lys1041Asn)
c.2832G>T (p.Lys944Asn)
c.77-1547G>T (n.77-1547G>T)
16g.51139099C>GCA395881865SALL1c.3123G>C (p.Lys1041Asn)
c.2832G>C (p.Lys944Asn)
c.77-1547G>C (n.77-1547G>C)
16g.51139099C>TCA495779926SALL1c.3123G>A (p.Lys1041=)
c.2832G>A (p.Lys944=)
c.77-1547G>A (n.77-1547G>A)
16g.51139100T>ACA395881866SALL1c.3122A>T (p.Lys1041Met)
c.2831A>T (p.Lys944Met)
c.77-1548A>T (n.77-1548A>T)
16g.51139100T>CCA395881867SALL1c.3122A>G (p.Lys1041Arg)
c.2831A>G (p.Lys944Arg)
c.77-1548A>G (n.77-1548A>G)
16g.51139100T>GCA395881868SALL1c.3122A>C (p.Lys1041Thr)
c.2831A>C (p.Lys944Thr)
c.77-1548A>C (n.77-1548A>C)
16g.51139101T>ACA395881871SALL1c.3121A>T (p.Lys1041Ter)
c.2830A>T (p.Lys944Ter)
c.77-1549A>T (n.77-1549A>T)
16g.51139101T>CCA395881870SALL1c.3121A>G (p.Lys1041Glu)
c.2830A>G (p.Lys944Glu)
c.77-1549A>G (n.77-1549A>G)
16g.51139101T>GCA395881869SALL1c.3121A>C (p.Lys1041Gln)
c.2830A>C (p.Lys944Gln)
c.77-1549A>C (n.77-1549A>C)
16g.51139102T>ACA495779931SALL1c.3120A>T (p.Thr1040=)
c.2829A>T (p.Thr943=)
c.77-1550A>T (n.77-1550A>T)
16g.51139102T>CCA241500SALL1c.3120A>G (p.Thr1040=)
c.2829A>G (p.Thr943=)
c.77-1550A>G (n.77-1550A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.51139102T>GCA495779934SALL1c.3120A>C (p.Thr1040=)
c.2829A>C (p.Thr943=)
c.77-1550A>C (n.77-1550A>C)
16g.51139102T=CA2222017418SALL1c.3120A= (p.Thr1040=)
c.2829A= (p.Thr943=)
c.77-1550A= (n.77-1550A=)
16g.51139103G>ACA395881872SALL1c.3119C>T (p.Thr1040Ile)
c.2828C>T (p.Thr943Ile)
c.77-1551C>T (n.77-1551C>T)
16g.51139103G>CCA395881873SALL1c.3119C>G (p.Thr1040Arg)
c.2828C>G (p.Thr943Arg)
c.77-1551C>G (n.77-1551C>G)
16g.51139103G>TCA395881874SALL1c.3119C>A (p.Thr1040Lys)
c.2828C>A (p.Thr943Lys)
c.77-1551C>A (n.77-1551C>A)
16g.51139104T>ACA395881875SALL1c.3118A>T (p.Thr1040Ser)
c.2827A>T (p.Thr943Ser)
c.77-1552A>T (n.77-1552A>T)
16g.51139104T>CCA395881876SALL1c.3118A>G (p.Thr1040Ala)
c.2827A>G (p.Thr943Ala)
c.77-1552A>G (n.77-1552A>G)
16g.51139104T>GCA395881877SALL1c.3118A>C (p.Thr1040Pro)
c.2827A>C (p.Thr943Pro)
c.77-1552A>C (n.77-1552A>C)
16g.51139105G>ACA495779941SALL1c.3117C>T (p.Ser1039=)
c.2826C>T (p.Ser942=)
c.77-1553C>T (n.77-1553C>T)
ClinVar
16g.51139105G>CCA495779940SALL1c.3117C>G (p.Ser1039=)
c.2826C>G (p.Ser942=)
c.77-1553C>G (n.77-1553C>G)
16g.51139105G>TCA495779939SALL1c.3117C>A (p.Ser1039=)
c.2826C>A (p.Ser942=)
c.77-1553C>A (n.77-1553C>A)
16g.51139106G>ACA281300833SALL1c.3116C>T (p.Ser1039Phe)
c.2825C>T (p.Ser942Phe)
c.77-1554C>T (n.77-1554C>T)
dbSNP COSMIC
16g.51139106G>CCA395881878SALL1c.3116C>G (p.Ser1039Cys)
c.2825C>G (p.Ser942Cys)
c.77-1554C>G (n.77-1554C>G)
16g.51139106G=CA2222017423SALL1c.3116C= (p.Ser1039=)
c.2825C= (p.Ser942=)
c.77-1554C= (n.77-1554C=)
16g.51139106G>TCA395881879SALL1c.3116C>A (p.Ser1039Tyr)
c.2825C>A (p.Ser942Tyr)
c.77-1554C>A (n.77-1554C>A)
16g.51139107A>CCA395881883SALL1c.3115T>G (p.Ser1039Ala)
c.2824T>G (p.Ser942Ala)
c.77-1555T>G (n.77-1555T>G)
16g.51139107A>GCA395881884SALL1c.3115T>C (p.Ser1039Pro)
c.2824T>C (p.Ser942Pro)
c.77-1555T>C (n.77-1555T>C)
16g.51139107A>TCA395881886SALL1c.3115T>A (p.Ser1039Thr)
c.2824T>A (p.Ser942Thr)
c.77-1555T>A (n.77-1555T>A)
16g.51139108A>CCA395881897SALL1c.3114T>G (p.Phe1038Leu)
c.2823T>G (p.Phe941Leu)
c.77-1556T>G (n.77-1556T>G)
16g.51139108A>GCA495779946SALL1c.3114T>C (p.Phe1038=)
c.2823T>C (p.Phe941=)
c.77-1556T>C (n.77-1556T>C)
16g.51139108A>TCA395881887SALL1c.3114T>A (p.Phe1038Leu)
c.2823T>A (p.Phe941Leu)
c.77-1556T>A (n.77-1556T>A)
16g.51139109A>CCA395881898SALL1c.3113T>G (p.Phe1038Cys)
c.2822T>G (p.Phe941Cys)
c.77-1557T>G (n.77-1557T>G)
16g.51139109A>GCA395881899SALL1c.3113T>C (p.Phe1038Ser)
c.2822T>C (p.Phe941Ser)
c.77-1557T>C (n.77-1557T>C)
16g.51139109A>TCA395881900SALL1c.3113T>A (p.Phe1038Tyr)
c.2822T>A (p.Phe941Tyr)
c.77-1557T>A (n.77-1557T>A)
16g.51139110A>CCA395881902SALL1c.3112T>G (p.Phe1038Val)
c.2821T>G (p.Phe941Val)
c.77-1558T>G (n.77-1558T>G)
16g.51139110A>GCA395881903SALL1c.3112T>C (p.Phe1038Leu)
c.2821T>C (p.Phe941Leu)
c.77-1558T>C (n.77-1558T>C)
16g.51139110A>TCA395881905SALL1c.3112T>A (p.Phe1038Ile)
c.2821T>A (p.Phe941Ile)
c.77-1558T>A (n.77-1558T>A)
16g.51139111G>ACA495779951SALL1c.3111C>T (p.Gly1037=)
c.2820C>T (p.Gly940=)
c.77-1559C>T (n.77-1559C>T)
dbSNP gnomAD v2 gnomAD v4
16g.51139111G>CCA495779953SALL1c.3111C>G (p.Gly1037=)
c.2820C>G (p.Gly940=)
c.77-1559C>G (n.77-1559C>G)
16g.51139111G=CA2222017425SALL1c.3111C= (p.Gly1037=)
c.2820C= (p.Gly940=)
c.77-1559C= (n.77-1559C=)
16g.51139111G>TCA495779952SALL1c.3111C>A (p.Gly1037=)
c.2820C>A (p.Gly940=)
c.77-1559C>A (n.77-1559C>A)
16g.51139112C>ACA395881909SALL1c.3110G>T (p.Gly1037Val)
c.2819G>T (p.Gly940Val)
c.77-1560G>T (n.77-1560G>T)
16g.51139112C>GCA395881908SALL1c.3110G>C (p.Gly1037Ala)
c.2819G>C (p.Gly940Ala)
c.77-1560G>C (n.77-1560G>C)
16g.51139112C>TCA395881907SALL1c.3110G>A (p.Gly1037Asp)
c.2819G>A (p.Gly940Asp)
c.77-1560G>A (n.77-1560G>A)
16g.51139113C>ACA395881910SALL1c.3109G>T (p.Gly1037Cys)
c.2818G>T (p.Gly940Cys)
c.77-1561G>T (n.77-1561G>T)
16g.51139113C>GCA395881911SALL1c.3109G>C (p.Gly1037Arg)
c.2818G>C (p.Gly940Arg)
c.77-1561G>C (n.77-1561G>C)
16g.51139113C>TCA395881912SALL1c.3109G>A (p.Gly1037Ser)
c.2818G>A (p.Gly940Ser)
c.77-1561G>A (n.77-1561G>A)
16g.51139114A>CCA495779957SALL1c.3108T>G (p.Arg1036=)
c.2817T>G (p.Arg939=)
c.77-1562T>G (n.77-1562T>G)
16g.51139114A>GCA495779959SALL1c.3108T>C (p.Arg1036=)
c.2817T>C (p.Arg939=)
c.77-1562T>C (n.77-1562T>C)
16g.51139114A>TCA495779960SALL1c.3108T>A (p.Arg1036=)
c.2817T>A (p.Arg939=)
c.77-1562T>A (n.77-1562T>A)
16g.51139115C>ACA395881913SALL1c.3107G>T (p.Arg1036Leu)
c.2816G>T (p.Arg939Leu)
c.77-1563G>T (n.77-1563G>T)
16g.51139115C=CA2222017431SALL1c.3107G= (p.Arg1036=)
c.2816G= (p.Arg939=)
c.77-1563G= (n.77-1563G=)
16g.51139115C>GCA395881914SALL1c.3107G>C (p.Arg1036Pro)
c.2816G>C (p.Arg939Pro)
c.77-1563G>C (n.77-1563G>C)
gnomAD v4
16g.51139115C>TCA395881915SALL1c.3107G>A (p.Arg1036His)
c.2816G>A (p.Arg939His)
c.77-1563G>A (n.77-1563G>A)
dbSNP gnomAD v3 gnomAD v4
16g.51139116G>ACA8052986SALL1c.3106C>T (p.Arg1036Cys)
c.2815C>T (p.Arg939Cys)
c.77-1564C>T (n.77-1564C>T)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
16g.51139116G>CCA395881921SALL1c.3106C>G (p.Arg1036Gly)
c.2815C>G (p.Arg939Gly)
c.77-1564C>G (n.77-1564C>G)
16g.51139116G=CA2222017437SALL1c.3106C= (p.Arg1036=)
c.2815C= (p.Arg939=)
c.77-1564C= (n.77-1564C=)
16g.51139116G>TCA395881919SALL1c.3106C>A (p.Arg1036Ser)
c.2815C>A (p.Arg939Ser)
c.77-1564C>A (n.77-1564C>A)
16g.51139117A>CCA395881923SALL1c.3105T>G (p.Asn1035Lys)
c.2814T>G (p.Asn938Lys)
c.77-1565T>G (n.77-1565T>G)
16g.51139117A>GCA495779964SALL1c.3105T>C (p.Asn1035=)
c.2814T>C (p.Asn938=)
c.77-1565T>C (n.77-1565T>C)
gnomAD v4
16g.51139117A>TCA395881927SALL1c.3105T>A (p.Asn1035Lys)
c.2814T>A (p.Asn938Lys)
c.77-1565T>A (n.77-1565T>A)
16g.51139118_51139124dupCA10603534SALL1c.3099_3105dup (p.Arg1036LeufsTer10)
c.2808_2814dup (p.Arg939LeufsTer10)
c.77-1571_77-1565dup (n.77-1571_77-1565dup)
ClinVar dbSNP
16g.51139118T>ACA395881930SALL1c.3104A>T (p.Asn1035Ile)
c.2813A>T (p.Asn938Ile)
c.77-1566A>T (n.77-1566A>T)
gnomAD v4
16g.51139118T>CCA281300836SALL1c.3104A>G (p.Asn1035Ser)
c.2813A>G (p.Asn938Ser)
c.77-1566A>G (n.77-1566A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.51139118T>GCA395881932SALL1c.3104A>C (p.Asn1035Thr)
c.2813A>C (p.Asn938Thr)
c.77-1566A>C (n.77-1566A>C)
16g.51139118T=CA2222017450SALL1c.3104A= (p.Asn1035=)
c.2813A= (p.Asn938=)
c.77-1566A= (n.77-1566A=)
16g.51139119T>ACA395881933SALL1c.3103A>T (p.Asn1035Tyr)
c.2812A>T (p.Asn938Tyr)
c.77-1567A>T (n.77-1567A>T)
16g.51139119T>CCA395881934SALL1c.3103A>G (p.Asn1035Asp)
c.2812A>G (p.Asn938Asp)
c.77-1567A>G (n.77-1567A>G)
16g.51139119T>GCA395881935SALL1c.3103A>C (p.Asn1035His)
c.2812A>C (p.Asn938His)
c.77-1567A>C (n.77-1567A>C)
16g.51139120G>ACA495779969SALL1c.3102C>T (p.Cys1034=)
c.2811C>T (p.Cys937=)
c.77-1568C>T (n.77-1568C>T)
16g.51139120G>CCA395881937SALL1c.3102C>G (p.Cys1034Trp)
c.2811C>G (p.Cys937Trp)
c.77-1568C>G (n.77-1568C>G)
16g.51139120G>TCA395881938SALL1c.3102C>A (p.Cys1034Ter)
c.2811C>A (p.Cys937Ter)
c.77-1568C>A (n.77-1568C>A)
16g.51139121C>ACA395881941SALL1c.3101G>T (p.Cys1034Phe)
c.2810G>T (p.Cys937Phe)
c.77-1569G>T (n.77-1569G>T)
16g.51139121C>GCA395881940SALL1c.3101G>C (p.Cys1034Ser)
c.2810G>C (p.Cys937Ser)
c.77-1569G>C (n.77-1569G>C)
16g.51139121C>TCA395881939SALL1c.3101G>A (p.Cys1034Tyr)
c.2810G>A (p.Cys937Tyr)
c.77-1569G>A (n.77-1569G>A)
16g.51139122A>CCA395881942SALL1c.3100T>G (p.Cys1034Gly)
c.2809T>G (p.Cys937Gly)
c.77-1570T>G (n.77-1570T>G)
16g.51139122A>GCA395881945SALL1c.3100T>C (p.Cys1034Arg)
c.2809T>C (p.Cys937Arg)
c.77-1570T>C (n.77-1570T>C)
16g.51139122A>TCA395881943SALL1c.3100T>A (p.Cys1034Ser)
c.2809T>A (p.Cys937Ser)
c.77-1570T>A (n.77-1570T>A)
16g.51139123A>CCA495779972SALL1c.3099T>G (p.Val1033=)
c.2808T>G (p.Val936=)
c.77-1571T>G (n.77-1571T>G)
16g.51139123A>GCA495779976SALL1c.3099T>C (p.Val1033=)
c.2808T>C (p.Val936=)
c.77-1571T>C (n.77-1571T>C)
16g.51139123A>TCA495779974SALL1c.3099T>A (p.Val1033=)
c.2808T>A (p.Val936=)
c.77-1571T>A (n.77-1571T>A)
16g.51139124A>CCA395881949SALL1c.3098T>G (p.Val1033Gly)
c.2807T>G (p.Val936Gly)
c.77-1572T>G (n.77-1572T>G)
16g.51139124A>GCA395881950SALL1c.3098T>C (p.Val1033Ala)
c.2807T>C (p.Val936Ala)
c.77-1572T>C (n.77-1572T>C)
16g.51139124A>TCA395881954SALL1c.3098T>A (p.Val1033Asp)
c.2807T>A (p.Val936Asp)
c.77-1572T>A (n.77-1572T>A)
16g.51139125C>ACA395881955SALL1c.3097G>T (p.Val1033Phe)
c.2806G>T (p.Val936Phe)
c.77-1573G>T (n.77-1573G>T)
16g.51139125C>GCA395881956SALL1c.3097G>C (p.Val1033Leu)
c.2806G>C (p.Val936Leu)
c.77-1573G>C (n.77-1573G>C)
16g.51139125C>TCA395881957SALL1c.3097G>A (p.Val1033Ile)
c.2806G>A (p.Val936Ile)
c.77-1573G>A (n.77-1573G>A)
16g.51139126T>ACA495779980SALL1c.3096A>T (p.Thr1032=)
c.2805A>T (p.Thr935=)
c.77-1574A>T (n.77-1574A>T)
16g.51139126T>CCA495779981SALL1c.3096A>G (p.Thr1032=)
c.2805A>G (p.Thr935=)
c.77-1574A>G (n.77-1574A>G)
dbSNP gnomAD v3 gnomAD v4
16g.51139126T>GCA495779982SALL1c.3096A>C (p.Thr1032=)
c.2805A>C (p.Thr935=)
c.77-1574A>C (n.77-1574A>C)
16g.51139126T=CA2222017456SALL1c.3096A= (p.Thr1032=)
c.2805A= (p.Thr935=)
c.77-1574A= (n.77-1574A=)
16g.51139128_51139129delCA2695223342SALL1c.3095_3096del (p.Thr1032SerfsTer11)
c.2804_2805del (p.Thr935SerfsTer11)
c.77-1575_77-1574del (n.77-1575_77-1574del)
16g.51139127G>ACA8052987SALL1c.3095C>T (p.Thr1032Ile)
c.2804C>T (p.Thr935Ile)
c.77-1575C>T (n.77-1575C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.51139127G>CCA395881958SALL1c.3095C>G (p.Thr1032Arg)
c.2804C>G (p.Thr935Arg)
c.77-1575C>G (n.77-1575C>G)
16g.51139127G=CA2222017464SALL1c.3095C= (p.Thr1032=)
c.2804C= (p.Thr935=)
c.77-1575C= (n.77-1575C=)
16g.51139127G>TCA395881959SALL1c.3095C>A (p.Thr1032Lys)
c.2804C>A (p.Thr935Lys)
c.77-1575C>A (n.77-1575C>A)
16g.51139128T>ACA395881960SALL1c.3094A>T (p.Thr1032Ser)
c.2803A>T (p.Thr935Ser)
c.77-1576A>T (n.77-1576A>T)
16g.51139128T>CCA395881961SALL1c.3094A>G (p.Thr1032Ala)
c.2803A>G (p.Thr935Ala)
c.77-1576A>G (n.77-1576A>G)
16g.51139128T>GCA395881962SALL1c.3094A>C (p.Thr1032Pro)
c.2803A>C (p.Thr935Pro)
c.77-1576A>C (n.77-1576A>C)
16g.51139129G>ACA495779986SALL1c.3093C>T (p.Cys1031=)
c.2802C>T (p.Cys934=)
c.77-1577C>T (n.77-1577C>T)
16g.51139129G>CCA395881964SALL1c.3093C>G (p.Cys1031Trp)
c.2802C>G (p.Cys934Trp)
c.77-1577C>G (n.77-1577C>G)
16g.51139129G>TCA395881963SALL1c.3093C>A (p.Cys1031Ter)
c.2802C>A (p.Cys934Ter)
c.77-1577C>A (n.77-1577C>A)
16g.51139130C>ACA395881965SALL1c.3092G>T (p.Cys1031Phe)
c.2801G>T (p.Cys934Phe)
c.77-1578G>T (n.77-1578G>T)
gnomAD v4
16g.51139130C>GCA395881966SALL1c.3092G>C (p.Cys1031Ser)
c.2801G>C (p.Cys934Ser)
c.77-1578G>C (n.77-1578G>C)
16g.51139130C>TCA395881967SALL1c.3092G>A (p.Cys1031Tyr)
c.2801G>A (p.Cys934Tyr)
c.77-1578G>A (n.77-1578G>A)
gnomAD v4
16g.51139131A=CA2222017469SALL1c.3091T= (p.Cys1031=)
c.2800T= (p.Cys934=)
c.77-1579T= (n.77-1579T=)
16g.51139131A>CCA395881968SALL1c.3091T>G (p.Cys1031Gly)
c.2800T>G (p.Cys934Gly)
c.77-1579T>G (n.77-1579T>G)
16g.51139131A>GCA395881969SALL1c.3091T>C (p.Cys1031Arg)
c.2800T>C (p.Cys934Arg)
c.77-1579T>C (n.77-1579T>C)
dbSNP
16g.51139131A>TCA395881970SALL1c.3091T>A (p.Cys1031Ser)
c.2800T>A (p.Cys934Ser)
c.77-1579T>A (n.77-1579T>A)
16g.51139133delCA2582342995SALL1c.3091del (p.Cys1031AlafsTer14)
c.2800del (p.Cys934AlafsTer14)
c.77-1579del (n.77-1579del)
16g.51139132A=CA2222017470SALL1c.3090T= (p.Ile1030=)
c.2799T= (p.Ile933=)
c.77-1580T= (n.77-1580T=)
16g.51139132A>CCA395881971SALL1c.3090T>G (p.Ile1030Met)
c.2799T>G (p.Ile933Met)
c.77-1580T>G (n.77-1580T>G)
16g.51139132A>GCA495779989SALL1c.3090T>C (p.Ile1030=)
c.2799T>C (p.Ile933=)
c.77-1580T>C (n.77-1580T>C)
16g.51139132A>TCA495779990SALL1c.3090T>A (p.Ile1030=)
c.2799T>A (p.Ile933=)
c.77-1580T>A (n.77-1580T>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.51139133A>CCA395881972SALL1c.3089T>G (p.Ile1030Ser)
c.2798T>G (p.Ile933Ser)
c.77-1581T>G (n.77-1581T>G)
16g.51139133A>GCA395881973SALL1c.3089T>C (p.Ile1030Thr)
c.2798T>C (p.Ile933Thr)
c.77-1581T>C (n.77-1581T>C)
16g.51139133A>TCA395881974SALL1c.3089T>A (p.Ile1030Asn)
c.2798T>A (p.Ile933Asn)
c.77-1581T>A (n.77-1581T>A)
16g.51139134T>ACA395881975SALL1c.3088A>T (p.Ile1030Phe)
c.2797A>T (p.Ile933Phe)
c.77-1582A>T (n.77-1582A>T)
gnomAD v4
16g.51139134T>CCA395881976SALL1c.3088A>G (p.Ile1030Val)
c.2797A>G (p.Ile933Val)
c.77-1582A>G (n.77-1582A>G)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.51139134T>GCA395881977SALL1c.3088A>C (p.Ile1030Leu)
c.2797A>C (p.Ile933Leu)
c.77-1582A>C (n.77-1582A>C)
16g.51139134T=CA2222017473SALL1c.3088A= (p.Ile1030=)
c.2797A= (p.Ile933=)
c.77-1582A= (n.77-1582A=)
16g.51139135A>CCA395881978SALL1c.3087T>G (p.Phe1029Leu)
c.2796T>G (p.Phe932Leu)
c.77-1583T>G (n.77-1583T>G)
16g.51139135A>GCA495779993SALL1c.3087T>C (p.Phe1029=)
c.2796T>C (p.Phe932=)
c.77-1583T>C (n.77-1583T>C)
16g.51139135A>TCA395881979SALL1c.3087T>A (p.Phe1029Leu)
c.2796T>A (p.Phe932Leu)
c.77-1583T>A (n.77-1583T>A)
16g.51139136A>CCA395881980SALL1c.3086T>G (p.Phe1029Cys)
c.2795T>G (p.Phe932Cys)
c.77-1584T>G (n.77-1584T>G)
16g.51139136A>GCA395881981SALL1c.3086T>C (p.Phe1029Ser)
c.2795T>C (p.Phe932Ser)
c.77-1584T>C (n.77-1584T>C)
16g.51139136A>TCA395881982SALL1c.3086T>A (p.Phe1029Tyr)
c.2795T>A (p.Phe932Tyr)
c.77-1584T>A (n.77-1584T>A)
16g.51139137A>CCA395881983SALL1c.3085T>G (p.Phe1029Val)
c.2794T>G (p.Phe932Val)
c.77-1585T>G (n.77-1585T>G)
16g.51139137A>GCA395881984SALL1c.3085T>C (p.Phe1029Leu)
c.2794T>C (p.Phe932Leu)
c.77-1585T>C (n.77-1585T>C)
16g.51139137A>TCA395881986SALL1c.3085T>A (p.Phe1029Ile)
c.2794T>A (p.Phe932Ile)
c.77-1585T>A (n.77-1585T>A)

Number of alleles fetched