Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) |