Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.51139037T>A | CA395881520 | SALL1 | c.3185A>T (p.Glu1062Val) c.2894A>T (p.Glu965Val) c.77-1485A>T (n.77-1485A>T) | |
16 | g.51139037T>C | CA395881524 | SALL1 | c.3185A>G (p.Glu1062Gly) c.2894A>G (p.Glu965Gly) c.77-1485A>G (n.77-1485A>G) | gnomAD v4 |
16 | g.51139037T>G | CA395881523 | SALL1 | c.3185A>C (p.Glu1062Ala) c.2894A>C (p.Glu965Ala) c.77-1485A>C (n.77-1485A>C) | |
16 | g.51139038C>A | CA395881528 | SALL1 | c.3184G>T (p.Glu1062Ter) c.2893G>T (p.Glu965Ter) c.77-1486G>T (n.77-1486G>T) | |
16 | g.51139038C>G | CA395881530 | SALL1 | c.3184G>C (p.Glu1062Gln) c.2893G>C (p.Glu965Gln) c.77-1486G>C (n.77-1486G>C) | |
16 | g.51139038C>T | CA395881532 | SALL1 | c.3184G>A (p.Glu1062Lys) c.2893G>A (p.Glu965Lys) c.77-1486G>A (n.77-1486G>A) | COSMIC |
16 | g.51139039A= | CA2222017287 | SALL1 | c.3183T= (p.Phe1061=) c.2892T= (p.Phe964=) c.77-1487T= (n.77-1487T=) | |
16 | g.51139039A>C | CA395881536 | SALL1 | c.3183T>G (p.Phe1061Leu) c.2892T>G (p.Phe964Leu) c.77-1487T>G (n.77-1487T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139039A>G | CA495780017 | SALL1 | c.3183T>C (p.Phe1061=) c.2892T>C (p.Phe964=) c.77-1487T>C (n.77-1487T>C) | |
16 | g.51139039A>T | CA395881538 | SALL1 | c.3183T>A (p.Phe1061Leu) c.2892T>A (p.Phe964Leu) c.77-1487T>A (n.77-1487T>A) | |
16 | g.51139040A>C | CA395881539 | SALL1 | c.3182T>G (p.Phe1061Cys) c.2891T>G (p.Phe964Cys) c.77-1488T>G (n.77-1488T>G) | |
16 | g.51139040A>G | CA395881540 | SALL1 | c.3182T>C (p.Phe1061Ser) c.2891T>C (p.Phe964Ser) c.77-1488T>C (n.77-1488T>C) | |
16 | g.51139040A>T | CA395881541 | SALL1 | c.3182T>A (p.Phe1061Tyr) c.2891T>A (p.Phe964Tyr) c.77-1488T>A (n.77-1488T>A) | |
16 | g.51139041A>C | CA395881542 | SALL1 | c.3181T>G (p.Phe1061Val) c.2890T>G (p.Phe964Val) c.77-1489T>G (n.77-1489T>G) | |
16 | g.51139041A>G | CA395881543 | SALL1 | c.3181T>C (p.Phe1061Leu) c.2890T>C (p.Phe964Leu) c.77-1489T>C (n.77-1489T>C) | |
16 | g.51139041A>T | CA395881545 | SALL1 | c.3181T>A (p.Phe1061Ile) c.2890T>A (p.Phe964Ile) c.77-1489T>A (n.77-1489T>A) | |
16 | g.51139042G>A | CA281300755 | SALL1 | c.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 |
16 | g.51139042G>C | CA495780021 | SALL1 | c.3180C>G (p.Leu1060=) c.2889C>G (p.Leu963=) c.77-1490C>G (n.77-1490C>G) | gnomAD v4 |
16 | g.51139042G= | CA2222017296 | SALL1 | c.3180C= (p.Leu1060=) c.2889C= (p.Leu963=) c.77-1490C= (n.77-1490C=) | |
16 | g.51139042G>T | CA8052980 | SALL1 | c.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 |
16 | g.51139043A>C | CA395881549 | SALL1 | c.3179T>G (p.Leu1060Arg) c.2888T>G (p.Leu963Arg) c.77-1491T>G (n.77-1491T>G) | |
16 | g.51139043A>G | CA395881547 | SALL1 | c.3179T>C (p.Leu1060Pro) c.2888T>C (p.Leu963Pro) c.77-1491T>C (n.77-1491T>C) | |
16 | g.51139043A>T | CA395881551 | SALL1 | c.3179T>A (p.Leu1060His) c.2888T>A (p.Leu963His) c.77-1491T>A (n.77-1491T>A) | |
16 | g.51139044G>A | CA8052981 | SALL1 | c.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 |
16 | g.51139044G>C | CA395881558 | SALL1 | c.3178C>G (p.Leu1060Val) c.2887C>G (p.Leu963Val) c.77-1492C>G (n.77-1492C>G) | |
16 | g.51139044G= | CA2222017306 | SALL1 | c.3178C= (p.Leu1060=) c.2887C= (p.Leu963=) c.77-1492C= (n.77-1492C=) | |
16 | g.51139044G>T | CA395881559 | SALL1 | c.3178C>A (p.Leu1060Ile) c.2887C>A (p.Leu963Ile) c.77-1492C>A (n.77-1492C>A) | |
16 | g.51139045C>A | CA395881562 | SALL1 | c.3177G>T (p.Gln1059His) c.2886G>T (p.Gln962His) c.77-1493G>T (n.77-1493G>T) | |
16 | g.51139045C= | CA2222017322 | SALL1 | c.3177G= (p.Gln1059=) c.2886G= (p.Gln962=) c.77-1493G= (n.77-1493G=) | |
16 | g.51139045C>G | CA395881564 | SALL1 | c.3177G>C (p.Gln1059His) c.2886G>C (p.Gln962His) c.77-1493G>C (n.77-1493G>C) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51139045C>T | CA8052982 | SALL1 | c.3177G>A (p.Gln1059=) c.2886G>A (p.Gln962=) c.77-1493G>A (n.77-1493G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51139046T>A | CA395881572 | SALL1 | c.3176A>T (p.Gln1059Leu) c.2885A>T (p.Gln962Leu) c.77-1494A>T (n.77-1494A>T) | |
16 | g.51139046T>C | CA395881570 | SALL1 | c.3176A>G (p.Gln1059Arg) c.2885A>G (p.Gln962Arg) c.77-1494A>G (n.77-1494A>G) | |
16 | g.51139046T>G | CA395881568 | SALL1 | c.3176A>C (p.Gln1059Pro) c.2885A>C (p.Gln962Pro) c.77-1494A>C (n.77-1494A>C) | |
16 | g.51139047G>A | CA395881574 | SALL1 | c.3175C>T (p.Gln1059Ter) c.2884C>T (p.Gln962Ter) c.77-1495C>T (n.77-1495C>T) | |
16 | g.51139047G>C | CA395881575 | SALL1 | c.3175C>G (p.Gln1059Glu) c.2884C>G (p.Gln962Glu) c.77-1495C>G (n.77-1495C>G) | |
16 | g.51139047G>T | CA395881576 | SALL1 | c.3175C>A (p.Gln1059Lys) c.2884C>A (p.Gln962Lys) c.77-1495C>A (n.77-1495C>A) | |
16 | g.51139048G>A | CA495780023 | SALL1 | c.3174C>T (p.Ser1058=) c.2883C>T (p.Ser961=) c.77-1496C>T (n.77-1496C>T) | gnomAD v4 COSMIC |
16 | g.51139048G>C | CA495780024 | SALL1 | c.3174C>G (p.Ser1058=) c.2883C>G (p.Ser961=) c.77-1496C>G (n.77-1496C>G) | |
16 | g.51139048G>T | CA495780025 | SALL1 | c.3174C>A (p.Ser1058=) c.2883C>A (p.Ser961=) c.77-1496C>A (n.77-1496C>A) | gnomAD v3 gnomAD v4 |
16 | g.51139049G>A | CA395881577 | SALL1 | c.3173C>T (p.Ser1058Phe) c.2882C>T (p.Ser961Phe) c.77-1497C>T (n.77-1497C>T) | |
16 | g.51139049G>C | CA395881578 | SALL1 | c.3173C>G (p.Ser1058Cys) c.2882C>G (p.Ser961Cys) c.77-1497C>G (n.77-1497C>G) | ClinVar dbSNP |
16 | g.51139049G>T | CA395881580 | SALL1 | c.3173C>A (p.Ser1058Tyr) c.2882C>A (p.Ser961Tyr) c.77-1497C>A (n.77-1497C>A) | |
16 | g.51139050A>C | CA395881589 | SALL1 | c.3172T>G (p.Ser1058Ala) c.2881T>G (p.Ser961Ala) c.77-1498T>G (n.77-1498T>G) | |
16 | g.51139050A>G | CA395881582 | SALL1 | c.3172T>C (p.Ser1058Pro) c.2881T>C (p.Ser961Pro) c.77-1498T>C (n.77-1498T>C) | |
16 | g.51139050A>T | CA395881587 | SALL1 | c.3172T>A (p.Ser1058Thr) c.2881T>A (p.Ser961Thr) c.77-1498T>A (n.77-1498T>A) | |
16 | g.51139051T>A | CA495780026 | SALL1 | c.3171A>T (p.Pro1057=) c.2880A>T (p.Pro960=) c.77-1499A>T (n.77-1499A>T) | |
16 | g.51139051T>C | CA495780027 | SALL1 | c.3171A>G (p.Pro1057=) c.2880A>G (p.Pro960=) c.77-1499A>G (n.77-1499A>G) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51139051T>G | CA495780028 | SALL1 | c.3171A>C (p.Pro1057=) c.2880A>C (p.Pro960=) c.77-1499A>C (n.77-1499A>C) | |
16 | g.51139051T= | CA2222017327 | SALL1 | c.3171A= (p.Pro1057=) c.2880A= (p.Pro960=) c.77-1499A= (n.77-1499A=) | |
16 | g.51139052G>A | CA395881592 | SALL1 | c.3170C>T (p.Pro1057Leu) c.2879C>T (p.Pro960Leu) c.77-1500C>T (n.77-1500C>T) | |
16 | g.51139052G>C | CA395881599 | SALL1 | c.3170C>G (p.Pro1057Arg) c.2879C>G (p.Pro960Arg) c.77-1500C>G (n.77-1500C>G) | |
16 | g.51139052G>T | CA395881602 | SALL1 | c.3170C>A (p.Pro1057Gln) c.2879C>A (p.Pro960Gln) c.77-1500C>A (n.77-1500C>A) | |
16 | g.51139053G>A | CA395881604 | SALL1 | c.3169C>T (p.Pro1057Ser) c.2878C>T (p.Pro960Ser) c.77-1501C>T (n.77-1501C>T) | |
16 | g.51139053G>C | CA395881606 | SALL1 | c.3169C>G (p.Pro1057Ala) c.2878C>G (p.Pro960Ala) c.77-1501C>G (n.77-1501C>G) | |
16 | g.51139053G>T | CA395881608 | SALL1 | c.3169C>A (p.Pro1057Thr) c.2878C>A (p.Pro960Thr) c.77-1501C>A (n.77-1501C>A) | |
16 | g.51139054del | CA2695223341 | SALL1 | c.3168del (p.Pro1057HisfsTer19) c.2877del (p.Pro960HisfsTer19) c.77-1502del (n.77-1502del) | |
16 | g.51139054C>A | CA495780030 | SALL1 | c.3168G>T (p.Leu1056=) c.2877G>T (p.Leu959=) c.77-1502G>T (n.77-1502G>T) | |
16 | g.51139054C>G | CA495780031 | SALL1 | c.3168G>C (p.Leu1056=) c.2877G>C (p.Leu959=) c.77-1502G>C (n.77-1502G>C) | |
16 | g.51139054C>T | CA495780032 | SALL1 | c.3168G>A (p.Leu1056=) c.2877G>A (p.Leu959=) c.77-1502G>A (n.77-1502G>A) | dbSNP gnomAD v4 |
16 | g.51139055A>C | CA395881611 | SALL1 | c.3167T>G (p.Leu1056Arg) c.2876T>G (p.Leu959Arg) c.77-1503T>G (n.77-1503T>G) | |
16 | g.51139055A>G | CA395881613 | SALL1 | c.3167T>C (p.Leu1056Pro) c.2876T>C (p.Leu959Pro) c.77-1503T>C (n.77-1503T>C) | |
16 | g.51139055A>T | CA395881614 | SALL1 | c.3167T>A (p.Leu1056Gln) c.2876T>A (p.Leu959Gln) c.77-1503T>A (n.77-1503T>A) | |
16 | g.51139056G>A | CA495780033 | SALL1 | c.3166C>T (p.Leu1056=) c.2875C>T (p.Leu959=) c.77-1504C>T (n.77-1504C>T) | dbSNP gnomAD v4 COSMIC |
16 | g.51139056G>C | CA395881616 | SALL1 | c.3166C>G (p.Leu1056Val) c.2875C>G (p.Leu959Val) c.77-1504C>G (n.77-1504C>G) | |
16 | g.51139056G= | CA2222017330 | SALL1 | c.3166C= (p.Leu1056=) c.2875C= (p.Leu959=) c.77-1504C= (n.77-1504C=) | |
16 | g.51139056G>T | CA395881619 | SALL1 | c.3166C>A (p.Leu1056Met) c.2875C>A (p.Leu959Met) c.77-1504C>A (n.77-1504C>A) | |
16 | g.51139057A>C | CA395881621 | SALL1 | c.3165T>G (p.Asp1055Glu) c.2874T>G (p.Asp958Glu) c.77-1505T>G (n.77-1505T>G) | |
16 | g.51139057A>G | CA495780035 | SALL1 | c.3165T>C (p.Asp1055=) c.2874T>C (p.Asp958=) c.77-1505T>C (n.77-1505T>C) | |
16 | g.51139057A>T | CA395881623 | SALL1 | c.3165T>A (p.Asp1055Glu) c.2874T>A (p.Asp958Glu) c.77-1505T>A (n.77-1505T>A) | |
16 | g.51139058T>A | CA281300783 | SALL1 | c.3164A>T (p.Asp1055Val) c.2873A>T (p.Asp958Val) c.77-1506A>T (n.77-1506A>T) | dbSNP |
16 | g.51139058T>C | CA395881628 | SALL1 | c.3164A>G (p.Asp1055Gly) c.2873A>G (p.Asp958Gly) c.77-1506A>G (n.77-1506A>G) | |
16 | g.51139058T>G | CA395881626 | SALL1 | c.3164A>C (p.Asp1055Ala) c.2873A>C (p.Asp958Ala) c.77-1506A>C (n.77-1506A>C) | |
16 | g.51139058T= | CA2222017336 | SALL1 | c.3164A= (p.Asp1055=) c.2873A= (p.Asp958=) c.77-1506A= (n.77-1506A=) | |
16 | g.51139059C>A | CA395881631 | SALL1 | c.3163G>T (p.Asp1055Tyr) c.2872G>T (p.Asp958Tyr) c.77-1507G>T (n.77-1507G>T) | |
16 | g.51139059C= | CA2222017338 | SALL1 | c.3163G= (p.Asp1055=) c.2872G= (p.Asp958=) c.77-1507G= (n.77-1507G=) | |
16 | g.51139059C>G | CA8052983 | SALL1 | c.3163G>C (p.Asp1055His) c.2872G>C (p.Asp958His) c.77-1507G>C (n.77-1507G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51139059C>T | CA395881636 | SALL1 | c.3163G>A (p.Asp1055Asn) c.2872G>A (p.Asp958Asn) c.77-1507G>A (n.77-1507G>A) | |
16 | g.51139060T>A | CA495780036 | SALL1 | c.3162A>T (p.Arg1054=) c.2871A>T (p.Arg957=) c.77-1508A>T (n.77-1508A>T) | |
16 | g.51139060T>C | CA495780037 | SALL1 | c.3162A>G (p.Arg1054=) c.2871A>G (p.Arg957=) c.77-1508A>G (n.77-1508A>G) | |
16 | g.51139060T>G | CA495780038 | SALL1 | c.3162A>C (p.Arg1054=) c.2871A>C (p.Arg957=) c.77-1508A>C (n.77-1508A>C) | |
16 | g.51139061C>A | CA395881638 | SALL1 | c.3161G>T (p.Arg1054Leu) c.2870G>T (p.Arg957Leu) c.77-1509G>T (n.77-1509G>T) | |
16 | g.51139061C= | CA2222017343 | SALL1 | c.3161G= (p.Arg1054=) c.2870G= (p.Arg957=) c.77-1509G= (n.77-1509G=) | |
16 | g.51139061C>G | CA8052984 | SALL1 | c.3161G>C (p.Arg1054Pro) c.2870G>C (p.Arg957Pro) c.77-1509G>C (n.77-1509G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51139061C>T | CA395881641 | SALL1 | c.3161G>A (p.Arg1054Gln) c.2870G>A (p.Arg957Gln) c.77-1509G>A (n.77-1509G>A) | dbSNP COSMIC |
16 | g.51139062G>A | CA347917 | SALL1 | c.3160C>T (p.Arg1054Ter) c.2869C>T (p.Arg957Ter) c.77-1510C>T (n.77-1510C>T) | ClinVar dbSNP COSMIC |
16 | g.51139062G>C | CA395881644 | SALL1 | c.3160C>G (p.Arg1054Gly) c.2869C>G (p.Arg957Gly) c.77-1510C>G (n.77-1510C>G) | |
16 | g.51139062G= | CA2222017353 | SALL1 | c.3160C= (p.Arg1054=) c.2869C= (p.Arg957=) c.77-1510C= (n.77-1510C=) | |
16 | g.51139062G>T | CA495780041 | SALL1 | c.3160C>A (p.Arg1054=) c.2869C>A (p.Arg957=) c.77-1510C>A (n.77-1510C>A) | gnomAD v4 |
16 | g.51139063C>A | CA395881648 | SALL1 | c.3159G>T (p.Met1053Ile) c.2868G>T (p.Met956Ile) c.77-1511G>T (n.77-1511G>T) | |
16 | g.51139063C>G | CA395881651 | SALL1 | c.3159G>C (p.Met1053Ile) c.2868G>C (p.Met956Ile) c.77-1511G>C (n.77-1511G>C) | |
16 | g.51139063C>T | CA395881652 | SALL1 | c.3159G>A (p.Met1053Ile) c.2868G>A (p.Met956Ile) c.77-1511G>A (n.77-1511G>A) | gnomAD v4 |
16 | g.51139064A>C | CA395881655 | SALL1 | c.3158T>G (p.Met1053Arg) c.2867T>G (p.Met956Arg) c.77-1512T>G (n.77-1512T>G) | |
16 | g.51139064A>G | CA395881657 | SALL1 | c.3158T>C (p.Met1053Thr) c.2867T>C (p.Met956Thr) c.77-1512T>C (n.77-1512T>C) | gnomAD v4 |
16 | g.51139064A>T | CA395881660 | SALL1 | c.3158T>A (p.Met1053Lys) c.2867T>A (p.Met956Lys) c.77-1512T>A (n.77-1512T>A) | |
16 | g.51139065T>A | CA395881662 | SALL1 | c.3157A>T (p.Met1053Leu) c.2866A>T (p.Met956Leu) c.77-1513A>T (n.77-1513A>T) | |
16 | g.51139065T>C | CA395881664 | SALL1 | c.3157A>G (p.Met1053Val) c.2866A>G (p.Met956Val) c.77-1513A>G (n.77-1513A>G) | gnomAD v4 |
16 | g.51139065T>G | CA16607036 | SALL1 | c.3157A>C (p.Met1053Leu) c.2866A>C (p.Met956Leu) c.77-1513A>C (n.77-1513A>C) | ClinVar dbSNP |
16 | g.51139065T= | CA2222017359 | SALL1 | c.3157A= (p.Met1053=) c.2866A= (p.Met956=) c.77-1513A= (n.77-1513A=) | |
16 | g.51139066C>A | CA395881667 | SALL1 | c.3156G>T (p.Gln1052His) c.2865G>T (p.Gln955His) c.77-1514G>T (n.77-1514G>T) | |
16 | g.51139066C= | CA2222017366 | SALL1 | c.3156G= (p.Gln1052=) c.2865G= (p.Gln955=) c.77-1514G= (n.77-1514G=) | |
16 | g.51139066C>G | CA281300818 | SALL1 | c.3156G>C (p.Gln1052His) c.2865G>C (p.Gln955His) c.77-1514G>C (n.77-1514G>C) | dbSNP |
16 | g.51139066C>T | CA495780043 | SALL1 | c.3156G>A (p.Gln1052=) c.2865G>A (p.Gln955=) c.77-1514G>A (n.77-1514G>A) | |
16 | g.51139067T>A | CA395881671 | SALL1 | c.3155A>T (p.Gln1052Leu) c.2864A>T (p.Gln955Leu) c.77-1515A>T (n.77-1515A>T) | |
16 | g.51139067T>C | CA395881673 | SALL1 | c.3155A>G (p.Gln1052Arg) c.2864A>G (p.Gln955Arg) c.77-1515A>G (n.77-1515A>G) | dbSNP gnomAD v2 |
16 | g.51139067T>G | CA395881676 | SALL1 | c.3155A>C (p.Gln1052Pro) c.2864A>C (p.Gln955Pro) c.77-1515A>C (n.77-1515A>C) | |
16 | g.51139067T= | CA2222017367 | SALL1 | c.3155A= (p.Gln1052=) c.2864A= (p.Gln955=) c.77-1515A= (n.77-1515A=) | |
16 | g.51139068G>A | CA16042991 | SALL1 | c.3154C>T (p.Gln1052Ter) c.2863C>T (p.Gln955Ter) c.77-1516C>T (n.77-1516C>T) | ClinVar dbSNP COSMIC |
16 | g.51139068G>C | CA395881681 | SALL1 | c.3154C>G (p.Gln1052Glu) c.2863C>G (p.Gln955Glu) c.77-1516C>G (n.77-1516C>G) | gnomAD v4 |
16 | g.51139068G= | CA2222017373 | SALL1 | c.3154C= (p.Gln1052=) c.2863C= (p.Gln955=) c.77-1516C= (n.77-1516C=) | |
16 | g.51139068G>T | CA395881683 | SALL1 | c.3154C>A (p.Gln1052Lys) c.2863C>A (p.Gln955Lys) c.77-1516C>A (n.77-1516C>A) | |
16 | g.51139069A>C | CA395881685 | SALL1 | c.3153T>G (p.His1051Gln) c.2862T>G (p.His954Gln) c.77-1517T>G (n.77-1517T>G) | |
16 | g.51139069A>G | CA495779868 | SALL1 | c.3153T>C (p.His1051=) c.2862T>C (p.His954=) c.77-1517T>C (n.77-1517T>C) | |
16 | g.51139069A>T | CA395881687 | SALL1 | c.3153T>A (p.His1051Gln) c.2862T>A (p.His954Gln) c.77-1517T>A (n.77-1517T>A) | gnomAD v4 |
16 | g.51139070T>A | CA395881691 | SALL1 | c.3152A>T (p.His1051Leu) c.2861A>T (p.His954Leu) c.77-1518A>T (n.77-1518A>T) | |
16 | g.51139070T>C | CA395881694 | SALL1 | c.3152A>G (p.His1051Arg) c.2861A>G (p.His954Arg) c.77-1518A>G (n.77-1518A>G) | |
16 | g.51139070T>G | CA395881692 | SALL1 | c.3152A>C (p.His1051Pro) c.2861A>C (p.His954Pro) c.77-1518A>C (n.77-1518A>C) | |
16 | g.51139071G>A | CA395881696 | SALL1 | c.3151C>T (p.His1051Tyr) c.2860C>T (p.His954Tyr) c.77-1519C>T (n.77-1519C>T) | |
16 | g.51139071G>C | CA395881702 | SALL1 | c.3151C>G (p.His1051Asp) c.2860C>G (p.His954Asp) c.77-1519C>G (n.77-1519C>G) | |
16 | g.51139071G>T | CA395881699 | SALL1 | c.3151C>A (p.His1051Asn) c.2860C>A (p.His954Asn) c.77-1519C>A (n.77-1519C>A) | |
16 | g.51139072T>A | CA495779873 | SALL1 | c.3150A>T (p.Thr1050=) c.2859A>T (p.Thr953=) c.77-1520A>T (n.77-1520A>T) | |
16 | g.51139072T>C | CA495779874 | SALL1 | c.3150A>G (p.Thr1050=) c.2859A>G (p.Thr953=) c.77-1520A>G (n.77-1520A>G) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.51139072T>G | CA495779875 | SALL1 | c.3150A>C (p.Thr1050=) c.2859A>C (p.Thr953=) c.77-1520A>C (n.77-1520A>C) | gnomAD v4 |
16 | g.51139072T= | CA2222017378 | SALL1 | c.3150A= (p.Thr1050=) c.2859A= (p.Thr953=) c.77-1520A= (n.77-1520A=) | |
16 | g.51139073G>A | CA395881705 | SALL1 | c.3149C>T (p.Thr1050Ile) c.2858C>T (p.Thr953Ile) c.77-1521C>T (n.77-1521C>T) | COSMIC |
16 | g.51139073G>C | CA395881708 | SALL1 | c.3149C>G (p.Thr1050Arg) c.2858C>G (p.Thr953Arg) c.77-1521C>G (n.77-1521C>G) | |
16 | g.51139073G>T | CA395881711 | SALL1 | c.3149C>A (p.Thr1050Lys) c.2858C>A (p.Thr953Lys) c.77-1521C>A (n.77-1521C>A) | |
16 | g.51139074T>A | CA395881714 | SALL1 | c.3148A>T (p.Thr1050Ser) c.2857A>T (p.Thr953Ser) c.77-1522A>T (n.77-1522A>T) | |
16 | g.51139074T>C | CA395881715 | SALL1 | c.3148A>G (p.Thr1050Ala) c.2857A>G (p.Thr953Ala) c.77-1522A>G (n.77-1522A>G) | |
16 | g.51139074T>G | CA395881716 | SALL1 | c.3148A>C (p.Thr1050Pro) c.2857A>C (p.Thr953Pro) c.77-1522A>C (n.77-1522A>C) | |
16 | g.51139075C>A | CA395881717 | SALL1 | c.3147G>T (p.Leu1049Phe) c.2856G>T (p.Leu952Phe) c.77-1523G>T (n.77-1523G>T) | |
16 | g.51139075C>G | CA395881718 | SALL1 | c.3147G>C (p.Leu1049Phe) c.2856G>C (p.Leu952Phe) c.77-1523G>C (n.77-1523G>C) | |
16 | g.51139075C>T | CA495779880 | SALL1 | c.3147G>A (p.Leu1049=) c.2856G>A (p.Leu952=) c.77-1523G>A (n.77-1523G>A) | |
16 | g.51139076A>C | CA395881721 | SALL1 | c.3146T>G (p.Leu1049Trp) c.2855T>G (p.Leu952Trp) c.77-1524T>G (n.77-1524T>G) | |
16 | g.51139076A>G | CA395881726 | SALL1 | c.3146T>C (p.Leu1049Ser) c.2855T>C (p.Leu952Ser) c.77-1524T>C (n.77-1524T>C) | |
16 | g.51139076A>T | CA395881729 | SALL1 | c.3146T>A (p.Leu1049Ter) c.2855T>A (p.Leu952Ter) c.77-1524T>A (n.77-1524T>A) | |
16 | g.51139077A>C | CA395881733 | SALL1 | c.3145T>G (p.Leu1049Val) c.2854T>G (p.Leu952Val) c.77-1525T>G (n.77-1525T>G) | |
16 | g.51139077A>G | CA495779885 | SALL1 | c.3145T>C (p.Leu1049=) c.2854T>C (p.Leu952=) c.77-1525T>C (n.77-1525T>C) | gnomAD v4 |
16 | g.51139077A>T | CA395881731 | SALL1 | c.3145T>A (p.Leu1049Met) c.2854T>A (p.Leu952Met) c.77-1525T>A (n.77-1525T>A) | |
16 | g.51139078C>A | CA395881735 | SALL1 | c.3144G>T (p.Met1048Ile) c.2853G>T (p.Met951Ile) c.77-1526G>T (n.77-1526G>T) | |
16 | g.51139078C>G | CA395881736 | SALL1 | c.3144G>C (p.Met1048Ile) c.2853G>C (p.Met951Ile) c.77-1526G>C (n.77-1526G>C) | |
16 | g.51139078C>T | CA395881738 | SALL1 | c.3144G>A (p.Met1048Ile) c.2853G>A (p.Met951Ile) c.77-1526G>A (n.77-1526G>A) | |
16 | g.51139079A= | CA2222017383 | SALL1 | c.3143T= (p.Met1048=) c.2852T= (p.Met951=) c.77-1527T= (n.77-1527T=) | |
16 | g.51139079A>C | CA8052985 | SALL1 | c.3143T>G (p.Met1048Arg) c.2852T>G (p.Met951Arg) c.77-1527T>G (n.77-1527T>G) | dbSNP ExAC gnomAD v2 |
16 | g.51139079A>G | CA395881741 | SALL1 | c.3143T>C (p.Met1048Thr) c.2852T>C (p.Met951Thr) c.77-1527T>C (n.77-1527T>C) | gnomAD v4 |
16 | g.51139079A>T | CA395881743 | SALL1 | c.3143T>A (p.Met1048Lys) c.2852T>A (p.Met951Lys) c.77-1527T>A (n.77-1527T>A) | |
16 | g.51139080T>A | CA395881747 | SALL1 | c.3142A>T (p.Met1048Leu) c.2851A>T (p.Met951Leu) c.77-1528A>T (n.77-1528A>T) | |
16 | g.51139080T>C | CA395881749 | SALL1 | c.3142A>G (p.Met1048Val) c.2851A>G (p.Met951Val) c.77-1528A>G (n.77-1528A>G) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51139080T>G | CA395881751 | SALL1 | c.3142A>C (p.Met1048Leu) c.2851A>C (p.Met951Leu) c.77-1528A>C (n.77-1528A>C) | |
16 | g.51139080T= | CA2222017388 | SALL1 | c.3142A= (p.Met1048=) c.2851A= (p.Met951=) c.77-1528A= (n.77-1528A=) | |
16 | g.51139081G>A | CA495779890 | SALL1 | c.3141C>T (p.His1047=) c.2850C>T (p.His950=) c.77-1529C>T (n.77-1529C>T) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.51139081G>C | CA395881753 | SALL1 | c.3141C>G (p.His1047Gln) c.2850C>G (p.His950Gln) c.77-1529C>G (n.77-1529C>G) | |
16 | g.51139081G= | CA2222017393 | SALL1 | c.3141C= (p.His1047=) c.2850C= (p.His950=) c.77-1529C= (n.77-1529C=) | |
16 | g.51139081G>T | CA395881755 | SALL1 | c.3141C>A (p.His1047Gln) c.2850C>A (p.His950Gln) c.77-1529C>A (n.77-1529C>A) | |
16 | g.51139082T>A | CA395881758 | SALL1 | c.3140A>T (p.His1047Leu) c.2849A>T (p.His950Leu) c.77-1530A>T (n.77-1530A>T) | |
16 | g.51139082T>C | CA395881760 | SALL1 | c.3140A>G (p.His1047Arg) c.2849A>G (p.His950Arg) c.77-1530A>G (n.77-1530A>G) | |
16 | g.51139082T>G | CA395881756 | SALL1 | c.3140A>C (p.His1047Pro) c.2849A>C (p.His950Pro) c.77-1530A>C (n.77-1530A>C) | |
16 | g.51139083G>A | CA395881762 | SALL1 | c.3139C>T (p.His1047Tyr) c.2848C>T (p.His950Tyr) c.77-1531C>T (n.77-1531C>T) | COSMIC |
16 | g.51139083G>C | CA395881764 | SALL1 | c.3139C>G (p.His1047Asp) c.2848C>G (p.His950Asp) c.77-1531C>G (n.77-1531C>G) | |
16 | g.51139083G>T | CA395881766 | SALL1 | c.3139C>A (p.His1047Asn) c.2848C>A (p.His950Asn) c.77-1531C>A (n.77-1531C>A) | |
16 | g.51139084C>A | CA395881770 | SALL1 | c.3138G>T (p.Gln1046His) c.2847G>T (p.Gln949His) c.77-1532G>T (n.77-1532G>T) | |
16 | g.51139084C>G | CA395881772 | SALL1 | c.3138G>C (p.Gln1046His) c.2847G>C (p.Gln949His) c.77-1532G>C (n.77-1532G>C) | |
16 | g.51139084C>T | CA495779896 | SALL1 | c.3138G>A (p.Gln1046=) c.2847G>A (p.Gln949=) c.77-1532G>A (n.77-1532G>A) | |
16 | g.51139085T>A | CA395881779 | SALL1 | c.3137A>T (p.Gln1046Leu) c.2846A>T (p.Gln949Leu) c.77-1533A>T (n.77-1533A>T) | |
16 | g.51139085T>C | CA395881774 | SALL1 | c.3137A>G (p.Gln1046Arg) c.2846A>G (p.Gln949Arg) c.77-1533A>G (n.77-1533A>G) | |
16 | g.51139085T>G | CA395881776 | SALL1 | c.3137A>C (p.Gln1046Pro) c.2846A>C (p.Gln949Pro) c.77-1533A>C (n.77-1533A>C) | |
16 | g.51139086G>A | CA395881781 | SALL1 | c.3136C>T (p.Gln1046Ter) c.2845C>T (p.Gln949Ter) c.77-1534C>T (n.77-1534C>T) | |
16 | g.51139086G>C | CA395881783 | SALL1 | c.3136C>G (p.Gln1046Glu) c.2845C>G (p.Gln949Glu) c.77-1534C>G (n.77-1534C>G) | |
16 | g.51139086G>T | CA395881785 | SALL1 | c.3136C>A (p.Gln1046Lys) c.2845C>A (p.Gln949Lys) c.77-1534C>A (n.77-1534C>A) | |
16 | g.51139087C>A | CA395881787 | SALL1 | c.3135G>T (p.Lys1045Asn) c.2844G>T (p.Lys948Asn) c.77-1535G>T (n.77-1535G>T) | |
16 | g.51139087C>G | CA395881789 | SALL1 | c.3135G>C (p.Lys1045Asn) c.2844G>C (p.Lys948Asn) c.77-1535G>C (n.77-1535G>C) | |
16 | g.51139087C>T | CA495779902 | SALL1 | c.3135G>A (p.Lys1045=) c.2844G>A (p.Lys948=) c.77-1535G>A (n.77-1535G>A) | |
16 | g.51139088T>A | CA395881791 | SALL1 | c.3134A>T (p.Lys1045Met) c.2843A>T (p.Lys948Met) c.77-1536A>T (n.77-1536A>T) | |
16 | g.51139088T>C | CA395881794 | SALL1 | c.3134A>G (p.Lys1045Arg) c.2843A>G (p.Lys948Arg) c.77-1536A>G (n.77-1536A>G) | |
16 | g.51139088T>G | CA395881792 | SALL1 | c.3134A>C (p.Lys1045Thr) c.2843A>C (p.Lys948Thr) c.77-1536A>C (n.77-1536A>C) | |
16 | g.51139089T>A | CA395881798 | SALL1 | c.3133A>T (p.Lys1045Ter) c.2842A>T (p.Lys948Ter) c.77-1537A>T (n.77-1537A>T) | |
16 | g.51139089T>C | CA395881800 | SALL1 | c.3133A>G (p.Lys1045Glu) c.2842A>G (p.Lys948Glu) c.77-1537A>G (n.77-1537A>G) | |
16 | g.51139089T>G | CA395881802 | SALL1 | c.3133A>C (p.Lys1045Gln) c.2842A>C (p.Lys948Gln) c.77-1537A>C (n.77-1537A>C) | |
16 | g.51139090C>A | CA395881810 | SALL1 | c.3132G>T (p.Leu1044Phe) c.2841G>T (p.Leu947Phe) c.77-1538G>T (n.77-1538G>T) | |
16 | g.51139090C>G | CA395881814 | SALL1 | c.3132G>C (p.Leu1044Phe) c.2841G>C (p.Leu947Phe) c.77-1538G>C (n.77-1538G>C) | |
16 | g.51139090C>T | CA495779909 | SALL1 | c.3132G>A (p.Leu1044=) c.2841G>A (p.Leu947=) c.77-1538G>A (n.77-1538G>A) | |
16 | g.51139091A>C | CA395881818 | SALL1 | c.3131T>G (p.Leu1044Trp) c.2840T>G (p.Leu947Trp) c.77-1539T>G (n.77-1539T>G) | |
16 | g.51139091A>G | CA395881821 | SALL1 | c.3131T>C (p.Leu1044Ser) c.2840T>C (p.Leu947Ser) c.77-1539T>C (n.77-1539T>C) | |
16 | g.51139091A>T | CA395881824 | SALL1 | c.3131T>A (p.Leu1044Ter) c.2840T>A (p.Leu947Ter) c.77-1539T>A (n.77-1539T>A) | |
16 | g.51139092A= | CA2222017398 | SALL1 | c.3130T= (p.Leu1044=) c.2839T= (p.Leu947=) c.77-1540T= (n.77-1540T=) | |
16 | g.51139092A>C | CA395881826 | SALL1 | c.3130T>G (p.Leu1044Val) c.2839T>G (p.Leu947Val) c.77-1540T>G (n.77-1540T>G) | |
16 | g.51139092A>G | CA495779910 | SALL1 | c.3130T>C (p.Leu1044=) c.2839T>C (p.Leu947=) c.77-1540T>C (n.77-1540T>C) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.51139092A>T | CA395881828 | SALL1 | c.3130T>A (p.Leu1044Met) c.2839T>A (p.Leu947Met) c.77-1540T>A (n.77-1540T>A) | |
16 | g.51139093A= | CA2222017403 | SALL1 | c.3129T= (p.Asn1043=) c.2838T= (p.Asn946=) c.77-1541T= (n.77-1541T=) | |
16 | g.51139093A>C | CA395881830 | SALL1 | c.3129T>G (p.Asn1043Lys) c.2838T>G (p.Asn946Lys) c.77-1541T>G (n.77-1541T>G) | |
16 | g.51139093A>G | CA495779914 | SALL1 | c.3129T>C (p.Asn1043=) c.2838T>C (p.Asn946=) c.77-1541T>C (n.77-1541T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139093A>T | CA395881831 | SALL1 | c.3129T>A (p.Asn1043Lys) c.2838T>A (p.Asn946Lys) c.77-1541T>A (n.77-1541T>A) | |
16 | g.51139093_51139094del | CA2739266761 | SALL1 | c.3128_3129del (p.Asn1043IlefsTer19) c.2837_2838del (p.Asn946IlefsTer19) c.77-1542_77-1541del (n.77-1542_77-1541del) | ClinVar |
16 | g.51139094T>A | CA395881835 | SALL1 | c.3128A>T (p.Asn1043Ile) c.2837A>T (p.Asn946Ile) c.77-1542A>T (n.77-1542A>T) | |
16 | g.51139094T>C | CA395881838 | SALL1 | c.3128A>G (p.Asn1043Ser) c.2837A>G (p.Asn946Ser) c.77-1542A>G (n.77-1542A>G) | |
16 | g.51139094T>G | CA395881833 | SALL1 | c.3128A>C (p.Asn1043Thr) c.2837A>C (p.Asn946Thr) c.77-1542A>C (n.77-1542A>C) | |
16 | g.51139095T>A | CA395881843 | SALL1 | c.3127A>T (p.Asn1043Tyr) c.2836A>T (p.Asn946Tyr) c.77-1543A>T (n.77-1543A>T) | |
16 | g.51139095T>C | CA395881841 | SALL1 | c.3127A>G (p.Asn1043Asp) c.2836A>G (p.Asn946Asp) c.77-1543A>G (n.77-1543A>G) | |
16 | g.51139095T>G | CA395881847 | SALL1 | c.3127A>C (p.Asn1043His) c.2836A>C (p.Asn946His) c.77-1543A>C (n.77-1543A>C) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.51139095T= | CA2222017406 | SALL1 | c.3127A= (p.Asn1043=) c.2836A= (p.Asn946=) c.77-1543A= (n.77-1543A=) | |
16 | g.51139096A>C | CA495779918 | SALL1 | c.3126T>G (p.Gly1042=) c.2835T>G (p.Gly945=) c.77-1544T>G (n.77-1544T>G) | |
16 | g.51139096A>G | CA495779919 | SALL1 | c.3126T>C (p.Gly1042=) c.2835T>C (p.Gly945=) c.77-1544T>C (n.77-1544T>C) | |
16 | g.51139096A>T | CA495779920 | SALL1 | c.3126T>A (p.Gly1042=) c.2835T>A (p.Gly945=) c.77-1544T>A (n.77-1544T>A) | |
16 | g.51139097C>A | CA395881849 | SALL1 | c.3125G>T (p.Gly1042Val) c.2834G>T (p.Gly945Val) c.77-1545G>T (n.77-1545G>T) | |
16 | g.51139097C>G | CA395881855 | SALL1 | c.3125G>C (p.Gly1042Ala) c.2834G>C (p.Gly945Ala) c.77-1545G>C (n.77-1545G>C) | |
16 | g.51139097C>T | CA395881858 | SALL1 | c.3125G>A (p.Gly1042Asp) c.2834G>A (p.Gly945Asp) c.77-1545G>A (n.77-1545G>A) | |
16 | g.51139098C>A | CA281300828 | SALL1 | c.3124G>T (p.Gly1042Cys) c.2833G>T (p.Gly945Cys) c.77-1546G>T (n.77-1546G>T) | dbSNP |
16 | g.51139098C= | CA2222017411 | SALL1 | c.3124G= (p.Gly1042=) c.2833G= (p.Gly945=) c.77-1546G= (n.77-1546G=) | |
16 | g.51139098C>G | CA395881862 | SALL1 | c.3124G>C (p.Gly1042Arg) c.2833G>C (p.Gly945Arg) c.77-1546G>C (n.77-1546G>C) | |
16 | g.51139098C>T | CA395881863 | SALL1 | c.3124G>A (p.Gly1042Ser) c.2833G>A (p.Gly945Ser) c.77-1546G>A (n.77-1546G>A) | gnomAD v4 |
16 | g.51139099C>A | CA395881864 | SALL1 | c.3123G>T (p.Lys1041Asn) c.2832G>T (p.Lys944Asn) c.77-1547G>T (n.77-1547G>T) | |
16 | g.51139099C>G | CA395881865 | SALL1 | c.3123G>C (p.Lys1041Asn) c.2832G>C (p.Lys944Asn) c.77-1547G>C (n.77-1547G>C) | |
16 | g.51139099C>T | CA495779926 | SALL1 | c.3123G>A (p.Lys1041=) c.2832G>A (p.Lys944=) c.77-1547G>A (n.77-1547G>A) | |
16 | g.51139100T>A | CA395881866 | SALL1 | c.3122A>T (p.Lys1041Met) c.2831A>T (p.Lys944Met) c.77-1548A>T (n.77-1548A>T) | |
16 | g.51139100T>C | CA395881867 | SALL1 | c.3122A>G (p.Lys1041Arg) c.2831A>G (p.Lys944Arg) c.77-1548A>G (n.77-1548A>G) | |
16 | g.51139100T>G | CA395881868 | SALL1 | c.3122A>C (p.Lys1041Thr) c.2831A>C (p.Lys944Thr) c.77-1548A>C (n.77-1548A>C) | |
16 | g.51139101T>A | CA395881871 | SALL1 | c.3121A>T (p.Lys1041Ter) c.2830A>T (p.Lys944Ter) c.77-1549A>T (n.77-1549A>T) | |
16 | g.51139101T>C | CA395881870 | SALL1 | c.3121A>G (p.Lys1041Glu) c.2830A>G (p.Lys944Glu) c.77-1549A>G (n.77-1549A>G) | |
16 | g.51139101T>G | CA395881869 | SALL1 | c.3121A>C (p.Lys1041Gln) c.2830A>C (p.Lys944Gln) c.77-1549A>C (n.77-1549A>C) | |
16 | g.51139102T>A | CA495779931 | SALL1 | c.3120A>T (p.Thr1040=) c.2829A>T (p.Thr943=) c.77-1550A>T (n.77-1550A>T) | |
16 | g.51139102T>C | CA241500 | SALL1 | c.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 |
16 | g.51139102T>G | CA495779934 | SALL1 | c.3120A>C (p.Thr1040=) c.2829A>C (p.Thr943=) c.77-1550A>C (n.77-1550A>C) | |
16 | g.51139102T= | CA2222017418 | SALL1 | c.3120A= (p.Thr1040=) c.2829A= (p.Thr943=) c.77-1550A= (n.77-1550A=) | |
16 | g.51139103G>A | CA395881872 | SALL1 | c.3119C>T (p.Thr1040Ile) c.2828C>T (p.Thr943Ile) c.77-1551C>T (n.77-1551C>T) | |
16 | g.51139103G>C | CA395881873 | SALL1 | c.3119C>G (p.Thr1040Arg) c.2828C>G (p.Thr943Arg) c.77-1551C>G (n.77-1551C>G) | |
16 | g.51139103G>T | CA395881874 | SALL1 | c.3119C>A (p.Thr1040Lys) c.2828C>A (p.Thr943Lys) c.77-1551C>A (n.77-1551C>A) | |
16 | g.51139104T>A | CA395881875 | SALL1 | c.3118A>T (p.Thr1040Ser) c.2827A>T (p.Thr943Ser) c.77-1552A>T (n.77-1552A>T) | |
16 | g.51139104T>C | CA395881876 | SALL1 | c.3118A>G (p.Thr1040Ala) c.2827A>G (p.Thr943Ala) c.77-1552A>G (n.77-1552A>G) | |
16 | g.51139104T>G | CA395881877 | SALL1 | c.3118A>C (p.Thr1040Pro) c.2827A>C (p.Thr943Pro) c.77-1552A>C (n.77-1552A>C) | |
16 | g.51139105G>A | CA495779941 | SALL1 | c.3117C>T (p.Ser1039=) c.2826C>T (p.Ser942=) c.77-1553C>T (n.77-1553C>T) | ClinVar |
16 | g.51139105G>C | CA495779940 | SALL1 | c.3117C>G (p.Ser1039=) c.2826C>G (p.Ser942=) c.77-1553C>G (n.77-1553C>G) | |
16 | g.51139105G>T | CA495779939 | SALL1 | c.3117C>A (p.Ser1039=) c.2826C>A (p.Ser942=) c.77-1553C>A (n.77-1553C>A) | |
16 | g.51139106G>A | CA281300833 | SALL1 | c.3116C>T (p.Ser1039Phe) c.2825C>T (p.Ser942Phe) c.77-1554C>T (n.77-1554C>T) | dbSNP COSMIC |
16 | g.51139106G>C | CA395881878 | SALL1 | c.3116C>G (p.Ser1039Cys) c.2825C>G (p.Ser942Cys) c.77-1554C>G (n.77-1554C>G) | |
16 | g.51139106G= | CA2222017423 | SALL1 | c.3116C= (p.Ser1039=) c.2825C= (p.Ser942=) c.77-1554C= (n.77-1554C=) | |
16 | g.51139106G>T | CA395881879 | SALL1 | c.3116C>A (p.Ser1039Tyr) c.2825C>A (p.Ser942Tyr) c.77-1554C>A (n.77-1554C>A) | |
16 | g.51139107A>C | CA395881883 | SALL1 | c.3115T>G (p.Ser1039Ala) c.2824T>G (p.Ser942Ala) c.77-1555T>G (n.77-1555T>G) | |
16 | g.51139107A>G | CA395881884 | SALL1 | c.3115T>C (p.Ser1039Pro) c.2824T>C (p.Ser942Pro) c.77-1555T>C (n.77-1555T>C) | |
16 | g.51139107A>T | CA395881886 | SALL1 | c.3115T>A (p.Ser1039Thr) c.2824T>A (p.Ser942Thr) c.77-1555T>A (n.77-1555T>A) | |
16 | g.51139108A>C | CA395881897 | SALL1 | c.3114T>G (p.Phe1038Leu) c.2823T>G (p.Phe941Leu) c.77-1556T>G (n.77-1556T>G) | |
16 | g.51139108A>G | CA495779946 | SALL1 | c.3114T>C (p.Phe1038=) c.2823T>C (p.Phe941=) c.77-1556T>C (n.77-1556T>C) | |
16 | g.51139108A>T | CA395881887 | SALL1 | c.3114T>A (p.Phe1038Leu) c.2823T>A (p.Phe941Leu) c.77-1556T>A (n.77-1556T>A) | |
16 | g.51139109A>C | CA395881898 | SALL1 | c.3113T>G (p.Phe1038Cys) c.2822T>G (p.Phe941Cys) c.77-1557T>G (n.77-1557T>G) | |
16 | g.51139109A>G | CA395881899 | SALL1 | c.3113T>C (p.Phe1038Ser) c.2822T>C (p.Phe941Ser) c.77-1557T>C (n.77-1557T>C) | |
16 | g.51139109A>T | CA395881900 | SALL1 | c.3113T>A (p.Phe1038Tyr) c.2822T>A (p.Phe941Tyr) c.77-1557T>A (n.77-1557T>A) | |
16 | g.51139110A>C | CA395881902 | SALL1 | c.3112T>G (p.Phe1038Val) c.2821T>G (p.Phe941Val) c.77-1558T>G (n.77-1558T>G) | |
16 | g.51139110A>G | CA395881903 | SALL1 | c.3112T>C (p.Phe1038Leu) c.2821T>C (p.Phe941Leu) c.77-1558T>C (n.77-1558T>C) | |
16 | g.51139110A>T | CA395881905 | SALL1 | c.3112T>A (p.Phe1038Ile) c.2821T>A (p.Phe941Ile) c.77-1558T>A (n.77-1558T>A) | |
16 | g.51139111G>A | CA495779951 | SALL1 | c.3111C>T (p.Gly1037=) c.2820C>T (p.Gly940=) c.77-1559C>T (n.77-1559C>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51139111G>C | CA495779953 | SALL1 | c.3111C>G (p.Gly1037=) c.2820C>G (p.Gly940=) c.77-1559C>G (n.77-1559C>G) | |
16 | g.51139111G= | CA2222017425 | SALL1 | c.3111C= (p.Gly1037=) c.2820C= (p.Gly940=) c.77-1559C= (n.77-1559C=) | |
16 | g.51139111G>T | CA495779952 | SALL1 | c.3111C>A (p.Gly1037=) c.2820C>A (p.Gly940=) c.77-1559C>A (n.77-1559C>A) | |
16 | g.51139112C>A | CA395881909 | SALL1 | c.3110G>T (p.Gly1037Val) c.2819G>T (p.Gly940Val) c.77-1560G>T (n.77-1560G>T) | |
16 | g.51139112C>G | CA395881908 | SALL1 | c.3110G>C (p.Gly1037Ala) c.2819G>C (p.Gly940Ala) c.77-1560G>C (n.77-1560G>C) | |
16 | g.51139112C>T | CA395881907 | SALL1 | c.3110G>A (p.Gly1037Asp) c.2819G>A (p.Gly940Asp) c.77-1560G>A (n.77-1560G>A) | |
16 | g.51139113C>A | CA395881910 | SALL1 | c.3109G>T (p.Gly1037Cys) c.2818G>T (p.Gly940Cys) c.77-1561G>T (n.77-1561G>T) | |
16 | g.51139113C>G | CA395881911 | SALL1 | c.3109G>C (p.Gly1037Arg) c.2818G>C (p.Gly940Arg) c.77-1561G>C (n.77-1561G>C) | |
16 | g.51139113C>T | CA395881912 | SALL1 | c.3109G>A (p.Gly1037Ser) c.2818G>A (p.Gly940Ser) c.77-1561G>A (n.77-1561G>A) | |
16 | g.51139114A>C | CA495779957 | SALL1 | c.3108T>G (p.Arg1036=) c.2817T>G (p.Arg939=) c.77-1562T>G (n.77-1562T>G) | |
16 | g.51139114A>G | CA495779959 | SALL1 | c.3108T>C (p.Arg1036=) c.2817T>C (p.Arg939=) c.77-1562T>C (n.77-1562T>C) | |
16 | g.51139114A>T | CA495779960 | SALL1 | c.3108T>A (p.Arg1036=) c.2817T>A (p.Arg939=) c.77-1562T>A (n.77-1562T>A) | |
16 | g.51139115C>A | CA395881913 | SALL1 | c.3107G>T (p.Arg1036Leu) c.2816G>T (p.Arg939Leu) c.77-1563G>T (n.77-1563G>T) | |
16 | g.51139115C= | CA2222017431 | SALL1 | c.3107G= (p.Arg1036=) c.2816G= (p.Arg939=) c.77-1563G= (n.77-1563G=) | |
16 | g.51139115C>G | CA395881914 | SALL1 | c.3107G>C (p.Arg1036Pro) c.2816G>C (p.Arg939Pro) c.77-1563G>C (n.77-1563G>C) | gnomAD v4 |
16 | g.51139115C>T | CA395881915 | SALL1 | c.3107G>A (p.Arg1036His) c.2816G>A (p.Arg939His) c.77-1563G>A (n.77-1563G>A) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.51139116G>A | CA8052986 | SALL1 | c.3106C>T (p.Arg1036Cys) c.2815C>T (p.Arg939Cys) c.77-1564C>T (n.77-1564C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
16 | g.51139116G>C | CA395881921 | SALL1 | c.3106C>G (p.Arg1036Gly) c.2815C>G (p.Arg939Gly) c.77-1564C>G (n.77-1564C>G) | |
16 | g.51139116G= | CA2222017437 | SALL1 | c.3106C= (p.Arg1036=) c.2815C= (p.Arg939=) c.77-1564C= (n.77-1564C=) | |
16 | g.51139116G>T | CA395881919 | SALL1 | c.3106C>A (p.Arg1036Ser) c.2815C>A (p.Arg939Ser) c.77-1564C>A (n.77-1564C>A) | |
16 | g.51139117A>C | CA395881923 | SALL1 | c.3105T>G (p.Asn1035Lys) c.2814T>G (p.Asn938Lys) c.77-1565T>G (n.77-1565T>G) | |
16 | g.51139117A>G | CA495779964 | SALL1 | c.3105T>C (p.Asn1035=) c.2814T>C (p.Asn938=) c.77-1565T>C (n.77-1565T>C) | gnomAD v4 |
16 | g.51139117A>T | CA395881927 | SALL1 | c.3105T>A (p.Asn1035Lys) c.2814T>A (p.Asn938Lys) c.77-1565T>A (n.77-1565T>A) | |
16 | g.51139118_51139124dup | CA10603534 | SALL1 | c.3099_3105dup (p.Arg1036LeufsTer10) c.2808_2814dup (p.Arg939LeufsTer10) c.77-1571_77-1565dup (n.77-1571_77-1565dup) | ClinVar dbSNP |
16 | g.51139118T>A | CA395881930 | SALL1 | c.3104A>T (p.Asn1035Ile) c.2813A>T (p.Asn938Ile) c.77-1566A>T (n.77-1566A>T) | gnomAD v4 |
16 | g.51139118T>C | CA281300836 | SALL1 | c.3104A>G (p.Asn1035Ser) c.2813A>G (p.Asn938Ser) c.77-1566A>G (n.77-1566A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139118T>G | CA395881932 | SALL1 | c.3104A>C (p.Asn1035Thr) c.2813A>C (p.Asn938Thr) c.77-1566A>C (n.77-1566A>C) | |
16 | g.51139118T= | CA2222017450 | SALL1 | c.3104A= (p.Asn1035=) c.2813A= (p.Asn938=) c.77-1566A= (n.77-1566A=) | |
16 | g.51139119T>A | CA395881933 | SALL1 | c.3103A>T (p.Asn1035Tyr) c.2812A>T (p.Asn938Tyr) c.77-1567A>T (n.77-1567A>T) | |
16 | g.51139119T>C | CA395881934 | SALL1 | c.3103A>G (p.Asn1035Asp) c.2812A>G (p.Asn938Asp) c.77-1567A>G (n.77-1567A>G) | |
16 | g.51139119T>G | CA395881935 | SALL1 | c.3103A>C (p.Asn1035His) c.2812A>C (p.Asn938His) c.77-1567A>C (n.77-1567A>C) | |
16 | g.51139120G>A | CA495779969 | SALL1 | c.3102C>T (p.Cys1034=) c.2811C>T (p.Cys937=) c.77-1568C>T (n.77-1568C>T) | |
16 | g.51139120G>C | CA395881937 | SALL1 | c.3102C>G (p.Cys1034Trp) c.2811C>G (p.Cys937Trp) c.77-1568C>G (n.77-1568C>G) | |
16 | g.51139120G>T | CA395881938 | SALL1 | c.3102C>A (p.Cys1034Ter) c.2811C>A (p.Cys937Ter) c.77-1568C>A (n.77-1568C>A) | |
16 | g.51139121C>A | CA395881941 | SALL1 | c.3101G>T (p.Cys1034Phe) c.2810G>T (p.Cys937Phe) c.77-1569G>T (n.77-1569G>T) | |
16 | g.51139121C>G | CA395881940 | SALL1 | c.3101G>C (p.Cys1034Ser) c.2810G>C (p.Cys937Ser) c.77-1569G>C (n.77-1569G>C) | |
16 | g.51139121C>T | CA395881939 | SALL1 | c.3101G>A (p.Cys1034Tyr) c.2810G>A (p.Cys937Tyr) c.77-1569G>A (n.77-1569G>A) | |
16 | g.51139122A>C | CA395881942 | SALL1 | c.3100T>G (p.Cys1034Gly) c.2809T>G (p.Cys937Gly) c.77-1570T>G (n.77-1570T>G) | |
16 | g.51139122A>G | CA395881945 | SALL1 | c.3100T>C (p.Cys1034Arg) c.2809T>C (p.Cys937Arg) c.77-1570T>C (n.77-1570T>C) | |
16 | g.51139122A>T | CA395881943 | SALL1 | c.3100T>A (p.Cys1034Ser) c.2809T>A (p.Cys937Ser) c.77-1570T>A (n.77-1570T>A) | |
16 | g.51139123A>C | CA495779972 | SALL1 | c.3099T>G (p.Val1033=) c.2808T>G (p.Val936=) c.77-1571T>G (n.77-1571T>G) | |
16 | g.51139123A>G | CA495779976 | SALL1 | c.3099T>C (p.Val1033=) c.2808T>C (p.Val936=) c.77-1571T>C (n.77-1571T>C) | |
16 | g.51139123A>T | CA495779974 | SALL1 | c.3099T>A (p.Val1033=) c.2808T>A (p.Val936=) c.77-1571T>A (n.77-1571T>A) | |
16 | g.51139124A>C | CA395881949 | SALL1 | c.3098T>G (p.Val1033Gly) c.2807T>G (p.Val936Gly) c.77-1572T>G (n.77-1572T>G) | |
16 | g.51139124A>G | CA395881950 | SALL1 | c.3098T>C (p.Val1033Ala) c.2807T>C (p.Val936Ala) c.77-1572T>C (n.77-1572T>C) | |
16 | g.51139124A>T | CA395881954 | SALL1 | c.3098T>A (p.Val1033Asp) c.2807T>A (p.Val936Asp) c.77-1572T>A (n.77-1572T>A) | |
16 | g.51139125C>A | CA395881955 | SALL1 | c.3097G>T (p.Val1033Phe) c.2806G>T (p.Val936Phe) c.77-1573G>T (n.77-1573G>T) | |
16 | g.51139125C>G | CA395881956 | SALL1 | c.3097G>C (p.Val1033Leu) c.2806G>C (p.Val936Leu) c.77-1573G>C (n.77-1573G>C) | |
16 | g.51139125C>T | CA395881957 | SALL1 | c.3097G>A (p.Val1033Ile) c.2806G>A (p.Val936Ile) c.77-1573G>A (n.77-1573G>A) | |
16 | g.51139126T>A | CA495779980 | SALL1 | c.3096A>T (p.Thr1032=) c.2805A>T (p.Thr935=) c.77-1574A>T (n.77-1574A>T) | |
16 | g.51139126T>C | CA495779981 | SALL1 | c.3096A>G (p.Thr1032=) c.2805A>G (p.Thr935=) c.77-1574A>G (n.77-1574A>G) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.51139126T>G | CA495779982 | SALL1 | c.3096A>C (p.Thr1032=) c.2805A>C (p.Thr935=) c.77-1574A>C (n.77-1574A>C) | |
16 | g.51139126T= | CA2222017456 | SALL1 | c.3096A= (p.Thr1032=) c.2805A= (p.Thr935=) c.77-1574A= (n.77-1574A=) | |
16 | g.51139128_51139129del | CA2695223342 | SALL1 | c.3095_3096del (p.Thr1032SerfsTer11) c.2804_2805del (p.Thr935SerfsTer11) c.77-1575_77-1574del (n.77-1575_77-1574del) | |
16 | g.51139127G>A | CA8052987 | SALL1 | c.3095C>T (p.Thr1032Ile) c.2804C>T (p.Thr935Ile) c.77-1575C>T (n.77-1575C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51139127G>C | CA395881958 | SALL1 | c.3095C>G (p.Thr1032Arg) c.2804C>G (p.Thr935Arg) c.77-1575C>G (n.77-1575C>G) | |
16 | g.51139127G= | CA2222017464 | SALL1 | c.3095C= (p.Thr1032=) c.2804C= (p.Thr935=) c.77-1575C= (n.77-1575C=) | |
16 | g.51139127G>T | CA395881959 | SALL1 | c.3095C>A (p.Thr1032Lys) c.2804C>A (p.Thr935Lys) c.77-1575C>A (n.77-1575C>A) | |
16 | g.51139128T>A | CA395881960 | SALL1 | c.3094A>T (p.Thr1032Ser) c.2803A>T (p.Thr935Ser) c.77-1576A>T (n.77-1576A>T) | |
16 | g.51139128T>C | CA395881961 | SALL1 | c.3094A>G (p.Thr1032Ala) c.2803A>G (p.Thr935Ala) c.77-1576A>G (n.77-1576A>G) | |
16 | g.51139128T>G | CA395881962 | SALL1 | c.3094A>C (p.Thr1032Pro) c.2803A>C (p.Thr935Pro) c.77-1576A>C (n.77-1576A>C) | |
16 | g.51139129G>A | CA495779986 | SALL1 | c.3093C>T (p.Cys1031=) c.2802C>T (p.Cys934=) c.77-1577C>T (n.77-1577C>T) | |
16 | g.51139129G>C | CA395881964 | SALL1 | c.3093C>G (p.Cys1031Trp) c.2802C>G (p.Cys934Trp) c.77-1577C>G (n.77-1577C>G) | |
16 | g.51139129G>T | CA395881963 | SALL1 | c.3093C>A (p.Cys1031Ter) c.2802C>A (p.Cys934Ter) c.77-1577C>A (n.77-1577C>A) | |
16 | g.51139130C>A | CA395881965 | SALL1 | c.3092G>T (p.Cys1031Phe) c.2801G>T (p.Cys934Phe) c.77-1578G>T (n.77-1578G>T) | gnomAD v4 |
16 | g.51139130C>G | CA395881966 | SALL1 | c.3092G>C (p.Cys1031Ser) c.2801G>C (p.Cys934Ser) c.77-1578G>C (n.77-1578G>C) | |
16 | g.51139130C>T | CA395881967 | SALL1 | c.3092G>A (p.Cys1031Tyr) c.2801G>A (p.Cys934Tyr) c.77-1578G>A (n.77-1578G>A) | gnomAD v4 |
16 | g.51139131A= | CA2222017469 | SALL1 | c.3091T= (p.Cys1031=) c.2800T= (p.Cys934=) c.77-1579T= (n.77-1579T=) | |
16 | g.51139131A>C | CA395881968 | SALL1 | c.3091T>G (p.Cys1031Gly) c.2800T>G (p.Cys934Gly) c.77-1579T>G (n.77-1579T>G) | |
16 | g.51139131A>G | CA395881969 | SALL1 | c.3091T>C (p.Cys1031Arg) c.2800T>C (p.Cys934Arg) c.77-1579T>C (n.77-1579T>C) | dbSNP |
16 | g.51139131A>T | CA395881970 | SALL1 | c.3091T>A (p.Cys1031Ser) c.2800T>A (p.Cys934Ser) c.77-1579T>A (n.77-1579T>A) | |
16 | g.51139133del | CA2582342995 | SALL1 | c.3091del (p.Cys1031AlafsTer14) c.2800del (p.Cys934AlafsTer14) c.77-1579del (n.77-1579del) | |
16 | g.51139132A= | CA2222017470 | SALL1 | c.3090T= (p.Ile1030=) c.2799T= (p.Ile933=) c.77-1580T= (n.77-1580T=) | |
16 | g.51139132A>C | CA395881971 | SALL1 | c.3090T>G (p.Ile1030Met) c.2799T>G (p.Ile933Met) c.77-1580T>G (n.77-1580T>G) | |
16 | g.51139132A>G | CA495779989 | SALL1 | c.3090T>C (p.Ile1030=) c.2799T>C (p.Ile933=) c.77-1580T>C (n.77-1580T>C) | |
16 | g.51139132A>T | CA495779990 | SALL1 | c.3090T>A (p.Ile1030=) c.2799T>A (p.Ile933=) c.77-1580T>A (n.77-1580T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139133A>C | CA395881972 | SALL1 | c.3089T>G (p.Ile1030Ser) c.2798T>G (p.Ile933Ser) c.77-1581T>G (n.77-1581T>G) | |
16 | g.51139133A>G | CA395881973 | SALL1 | c.3089T>C (p.Ile1030Thr) c.2798T>C (p.Ile933Thr) c.77-1581T>C (n.77-1581T>C) | |
16 | g.51139133A>T | CA395881974 | SALL1 | c.3089T>A (p.Ile1030Asn) c.2798T>A (p.Ile933Asn) c.77-1581T>A (n.77-1581T>A) | |
16 | g.51139134T>A | CA395881975 | SALL1 | c.3088A>T (p.Ile1030Phe) c.2797A>T (p.Ile933Phe) c.77-1582A>T (n.77-1582A>T) | gnomAD v4 |
16 | g.51139134T>C | CA395881976 | SALL1 | c.3088A>G (p.Ile1030Val) c.2797A>G (p.Ile933Val) c.77-1582A>G (n.77-1582A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.51139134T>G | CA395881977 | SALL1 | c.3088A>C (p.Ile1030Leu) c.2797A>C (p.Ile933Leu) c.77-1582A>C (n.77-1582A>C) | |
16 | g.51139134T= | CA2222017473 | SALL1 | c.3088A= (p.Ile1030=) c.2797A= (p.Ile933=) c.77-1582A= (n.77-1582A=) | |
16 | g.51139135A>C | CA395881978 | SALL1 | c.3087T>G (p.Phe1029Leu) c.2796T>G (p.Phe932Leu) c.77-1583T>G (n.77-1583T>G) | |
16 | g.51139135A>G | CA495779993 | SALL1 | c.3087T>C (p.Phe1029=) c.2796T>C (p.Phe932=) c.77-1583T>C (n.77-1583T>C) | |
16 | g.51139135A>T | CA395881979 | SALL1 | c.3087T>A (p.Phe1029Leu) c.2796T>A (p.Phe932Leu) c.77-1583T>A (n.77-1583T>A) | |
16 | g.51139136A>C | CA395881980 | SALL1 | c.3086T>G (p.Phe1029Cys) c.2795T>G (p.Phe932Cys) c.77-1584T>G (n.77-1584T>G) | |
16 | g.51139136A>G | CA395881981 | SALL1 | c.3086T>C (p.Phe1029Ser) c.2795T>C (p.Phe932Ser) c.77-1584T>C (n.77-1584T>C) | |
16 | g.51139136A>T | CA395881982 | SALL1 | c.3086T>A (p.Phe1029Tyr) c.2795T>A (p.Phe932Tyr) c.77-1584T>A (n.77-1584T>A) | |
16 | g.51139137A>C | CA395881983 | SALL1 | c.3085T>G (p.Phe1029Val) c.2794T>G (p.Phe932Val) c.77-1585T>G (n.77-1585T>G) | |
16 | g.51139137A>G | CA395881984 | SALL1 | c.3085T>C (p.Phe1029Leu) c.2794T>C (p.Phe932Leu) c.77-1585T>C (n.77-1585T>C) | |
16 | g.51139137A>T | CA395881986 | SALL1 | c.3085T>A (p.Phe1029Ile) c.2794T>A (p.Phe932Ile) c.77-1585T>A (n.77-1585T>A) |