Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.51138881G>A | CA395880611 | SALL1 | c.3341C>T (p.Ser1114Phe) c.3050C>T (p.Ser1017Phe) c.77-1329C>T (n.77-1329C>T) | |
16 | g.51138881G>C | CA395880616 | SALL1 | c.3341C>G (p.Ser1114Cys) c.3050C>G (p.Ser1017Cys) c.77-1329C>G (n.77-1329C>G) | |
16 | g.51138881G>T | CA395880614 | SALL1 | c.3341C>A (p.Ser1114Tyr) c.3050C>A (p.Ser1017Tyr) c.77-1329C>A (n.77-1329C>A) | gnomAD v4 |
16 | g.51138882A>C | CA395880618 | SALL1 | c.3340T>G (p.Ser1114Ala) c.3049T>G (p.Ser1017Ala) c.77-1330T>G (n.77-1330T>G) | |
16 | g.51138882A>G | CA395880621 | SALL1 | c.3340T>C (p.Ser1114Pro) c.3049T>C (p.Ser1017Pro) c.77-1330T>C (n.77-1330T>C) | |
16 | g.51138882A>T | CA395880620 | SALL1 | c.3340T>A (p.Ser1114Thr) c.3049T>A (p.Ser1017Thr) c.77-1330T>A (n.77-1330T>A) | |
16 | g.51138883C>A | CA495779828 | SALL1 | c.3339G>T (p.Leu1113=) c.3048G>T (p.Leu1016=) c.77-1331G>T (n.77-1331G>T) | |
16 | g.51138883C>G | CA495779829 | SALL1 | c.3339G>C (p.Leu1113=) c.3048G>C (p.Leu1016=) c.77-1331G>C (n.77-1331G>C) | |
16 | g.51138883C>T | CA495779830 | SALL1 | c.3339G>A (p.Leu1113=) c.3048G>A (p.Leu1016=) c.77-1331G>A (n.77-1331G>A) | |
16 | g.51138884A= | CA2222016934 | SALL1 | c.3338T= (p.Leu1113=) c.3047T= (p.Leu1016=) c.77-1332T= (n.77-1332T=) | |
16 | g.51138884A>C | CA395880624 | SALL1 | c.3338T>G (p.Leu1113Arg) c.3047T>G (p.Leu1016Arg) c.77-1332T>G (n.77-1332T>G) | |
16 | g.51138884A>G | CA395880626 | SALL1 | c.3338T>C (p.Leu1113Pro) c.3047T>C (p.Leu1016Pro) c.77-1332T>C (n.77-1332T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.51138884A>T | CA395880628 | SALL1 | c.3338T>A (p.Leu1113Gln) c.3047T>A (p.Leu1016Gln) c.77-1332T>A (n.77-1332T>A) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51138885G>A | CA495779834 | SALL1 | c.3337C>T (p.Leu1113=) c.3046C>T (p.Leu1016=) c.77-1333C>T (n.77-1333C>T) | |
16 | g.51138885G>C | CA395880630 | SALL1 | c.3337C>G (p.Leu1113Val) c.3046C>G (p.Leu1016Val) c.77-1333C>G (n.77-1333C>G) | gnomAD v4 |
16 | g.51138885G>T | CA395880631 | SALL1 | c.3337C>A (p.Leu1113Met) c.3046C>A (p.Leu1016Met) c.77-1333C>A (n.77-1333C>A) | |
16 | g.51138886del | CA2695223339 | SALL1 | c.3336del (p.Leu1113CysfsTer?) c.3045del (p.Leu1016CysfsTer?) c.77-1334del (n.77-1334del) | |
16 | g.51138886A>C | CA495779836 | SALL1 | c.3336T>G (p.Pro1112=) c.3045T>G (p.Pro1015=) c.77-1334T>G (n.77-1334T>G) | |
16 | g.51138886A>G | CA495779837 | SALL1 | c.3336T>C (p.Pro1112=) c.3045T>C (p.Pro1015=) c.77-1334T>C (n.77-1334T>C) | |
16 | g.51138886A>T | CA495779835 | SALL1 | c.3336T>A (p.Pro1112=) c.3045T>A (p.Pro1015=) c.77-1334T>A (n.77-1334T>A) | |
16 | g.51138887G>A | CA8052945 | SALL1 | c.3335C>T (p.Pro1112Leu) c.3044C>T (p.Pro1015Leu) c.77-1335C>T (n.77-1335C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51138887G>C | CA395880637 | SALL1 | c.3335C>G (p.Pro1112Arg) c.3044C>G (p.Pro1015Arg) c.77-1335C>G (n.77-1335C>G) | |
16 | g.51138887G= | CA2222016939 | SALL1 | c.3335C= (p.Pro1112=) c.3044C= (p.Pro1015=) c.77-1335C= (n.77-1335C=) | |
16 | g.51138887G>T | CA395880639 | SALL1 | c.3335C>A (p.Pro1112His) c.3044C>A (p.Pro1015His) c.77-1335C>A (n.77-1335C>A) | |
16 | g.51138888del | CA495779838 | SALL1 | c.3335del (p.Pro1112LeufsTer?) c.3044del (p.Pro1015LeufsTer?) c.77-1335del (n.77-1335del) | COSMIC |
16 | g.51138888G>A | CA395880643 | SALL1 | c.3334C>T (p.Pro1112Ser) c.3043C>T (p.Pro1015Ser) c.77-1336C>T (n.77-1336C>T) | |
16 | g.51138888G>C | CA395880646 | SALL1 | c.3334C>G (p.Pro1112Ala) c.3043C>G (p.Pro1015Ala) c.77-1336C>G (n.77-1336C>G) | |
16 | g.51138888G>T | CA395880649 | SALL1 | c.3334C>A (p.Pro1112Thr) c.3043C>A (p.Pro1015Thr) c.77-1336C>A (n.77-1336C>A) | |
16 | g.51138889C>A | CA495779841 | SALL1 | c.3333G>T (p.Gly1111=) c.3042G>T (p.Gly1014=) c.77-1337G>T (n.77-1337G>T) | |
16 | g.51138889C= | CA2222016949 | SALL1 | c.3333G= (p.Gly1111=) c.3042G= (p.Gly1014=) c.77-1337G= (n.77-1337G=) | |
16 | g.51138889C>G | CA8052946 | SALL1 | c.3333G>C (p.Gly1111=) c.3042G>C (p.Gly1014=) c.77-1337G>C (n.77-1337G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51138889C>T | CA8052947 | SALL1 | c.3333G>A (p.Gly1111=) c.3042G>A (p.Gly1014=) c.77-1337G>A (n.77-1337G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51138890C>A | CA395880657 | SALL1 | c.3332G>T (p.Gly1111Val) c.3041G>T (p.Gly1014Val) c.77-1338G>T (n.77-1338G>T) | |
16 | g.51138890C>G | CA395880659 | SALL1 | c.3332G>C (p.Gly1111Ala) c.3041G>C (p.Gly1014Ala) c.77-1338G>C (n.77-1338G>C) | |
16 | g.51138890C>T | CA395880661 | SALL1 | c.3332G>A (p.Gly1111Glu) c.3041G>A (p.Gly1014Glu) c.77-1338G>A (n.77-1338G>A) | gnomAD v4 |
16 | g.51138891C>A | CA395880663 | SALL1 | c.3331G>T (p.Gly1111Trp) c.3040G>T (p.Gly1014Trp) c.77-1339G>T (n.77-1339G>T) | |
16 | g.51138891C>G | CA395880664 | SALL1 | c.3331G>C (p.Gly1111Arg) c.3040G>C (p.Gly1014Arg) c.77-1339G>C (n.77-1339G>C) | |
16 | g.51138891C>T | CA395880666 | SALL1 | c.3331G>A (p.Gly1111Arg) c.3040G>A (p.Gly1014Arg) c.77-1339G>A (n.77-1339G>A) | |
16 | g.51138892A= | CA2222016952 | SALL1 | c.3330T= (p.Ser1110=) c.3039T= (p.Ser1013=) c.77-1340T= (n.77-1340T=) | |
16 | g.51138892A>C | CA495779843 | SALL1 | c.3330T>G (p.Ser1110=) c.3039T>G (p.Ser1013=) c.77-1340T>G (n.77-1340T>G) | |
16 | g.51138892A>G | CA8052948 | SALL1 | c.3330T>C (p.Ser1110=) c.3039T>C (p.Ser1013=) c.77-1340T>C (n.77-1340T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51138892A>T | CA495779844 | SALL1 | c.3330T>A (p.Ser1110=) c.3039T>A (p.Ser1013=) c.77-1340T>A (n.77-1340T>A) | |
16 | g.51138893G>A | CA395880670 | SALL1 | c.3329C>T (p.Ser1110Phe) c.3038C>T (p.Ser1013Phe) c.77-1341C>T (n.77-1341C>T) | |
16 | g.51138893G>C | CA395880672 | SALL1 | c.3329C>G (p.Ser1110Cys) c.3038C>G (p.Ser1013Cys) c.77-1341C>G (n.77-1341C>G) | |
16 | g.51138893G>T | CA395880675 | SALL1 | c.3329C>A (p.Ser1110Tyr) c.3038C>A (p.Ser1013Tyr) c.77-1341C>A (n.77-1341C>A) | |
16 | g.51138894A= | CA2222016957 | SALL1 | c.3328T= (p.Ser1110=) c.3037T= (p.Ser1013=) c.77-1342T= (n.77-1342T=) | |
16 | g.51138894A>C | CA395880688 | SALL1 | c.3328T>G (p.Ser1110Ala) c.3037T>G (p.Ser1013Ala) c.77-1342T>G (n.77-1342T>G) | |
16 | g.51138894A>G | CA281300611 | SALL1 | c.3328T>C (p.Ser1110Pro) c.3037T>C (p.Ser1013Pro) c.77-1342T>C (n.77-1342T>C) | dbSNP |
16 | g.51138894A>T | CA395880685 | SALL1 | c.3328T>A (p.Ser1110Thr) c.3037T>A (p.Ser1013Thr) c.77-1342T>A (n.77-1342T>A) | |
16 | g.51138895C>A | CA495779846 | SALL1 | c.3327G>T (p.Pro1109=) c.3036G>T (p.Pro1012=) c.77-1343G>T (n.77-1343G>T) | gnomAD v4 |