Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.51141675T>A | CA395891582 | SALL1 | c.547A>T (p.Thr183Ser) c.256A>T (p.Thr86Ser) c.77-4123A>T (n.77-4123A>T) | |
16 | g.51141675T>C | CA395891584 | SALL1 | c.547A>G (p.Thr183Ala) c.256A>G (p.Thr86Ala) c.77-4123A>G (n.77-4123A>G) | gnomAD v4 |
16 | g.51141675T>G | CA395891585 | SALL1 | c.547A>C (p.Thr183Pro) c.256A>C (p.Thr86Pro) c.77-4123A>C (n.77-4123A>C) | |
16 | g.51141676C>A | CA495781440 | SALL1 | c.546G>T (p.Leu182=) c.255G>T (p.Leu85=) c.77-4124G>T (n.77-4124G>T) | |
16 | g.51141676C= | CA2222022669 | SALL1 | c.546G= (p.Leu182=) c.255G= (p.Leu85=) c.77-4124G= (n.77-4124G=) | |
16 | g.51141676C>G | CA495781441 | SALL1 | c.546G>C (p.Leu182=) c.255G>C (p.Leu85=) c.77-4124G>C (n.77-4124G>C) | |
16 | g.51141676C>T | CA495781442 | SALL1 | c.546G>A (p.Leu182=) c.255G>A (p.Leu85=) c.77-4124G>A (n.77-4124G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51141677A>C | CA395891587 | SALL1 | c.545T>G (p.Leu182Arg) c.254T>G (p.Leu85Arg) c.77-4125T>G (n.77-4125T>G) | |
16 | g.51141677A>G | CA395891589 | SALL1 | c.545T>C (p.Leu182Pro) c.254T>C (p.Leu85Pro) c.77-4125T>C (n.77-4125T>C) | gnomAD v4 |
16 | g.51141677A>T | CA395891590 | SALL1 | c.545T>A (p.Leu182Gln) c.254T>A (p.Leu85Gln) c.77-4125T>A (n.77-4125T>A) | |
16 | g.51141678G>A | CA495781443 | SALL1 | c.544C>T (p.Leu182=) c.253C>T (p.Leu85=) c.77-4126C>T (n.77-4126C>T) | |
16 | g.51141678G>C | CA395891592 | SALL1 | c.544C>G (p.Leu182Val) c.253C>G (p.Leu85Val) c.77-4126C>G (n.77-4126C>G) | |
16 | g.51141678G>T | CA395891593 | SALL1 | c.544C>A (p.Leu182Met) c.253C>A (p.Leu85Met) c.77-4126C>A (n.77-4126C>A) | |
16 | g.51141679G>A | CA495781444 | SALL1 | c.543C>T (p.Asp181=) c.252C>T (p.Asp84=) c.77-4127C>T (n.77-4127C>T) | gnomAD v4 |
16 | g.51141679G>C | CA395891595 | SALL1 | c.543C>G (p.Asp181Glu) c.252C>G (p.Asp84Glu) c.77-4127C>G (n.77-4127C>G) | |
16 | g.51141679G>T | CA395891596 | SALL1 | c.543C>A (p.Asp181Glu) c.252C>A (p.Asp84Glu) c.77-4127C>A (n.77-4127C>A) | |
16 | g.51141680T>A | CA395891598 | SALL1 | c.542A>T (p.Asp181Val) c.251A>T (p.Asp84Val) c.77-4128A>T (n.77-4128A>T) | |
16 | g.51141680T>C | CA395891600 | SALL1 | c.542A>G (p.Asp181Gly) c.251A>G (p.Asp84Gly) c.77-4128A>G (n.77-4128A>G) | dbSNP |
16 | g.51141680T>G | CA395891601 | SALL1 | c.542A>C (p.Asp181Ala) c.251A>C (p.Asp84Ala) c.77-4128A>C (n.77-4128A>C) | |
16 | g.51141681C>A | CA395891604 | SALL1 | c.541G>T (p.Asp181Tyr) c.250G>T (p.Asp84Tyr) c.77-4129G>T (n.77-4129G>T) | |
16 | g.51141681C= | CA2222022678 | SALL1 | c.541G= (p.Asp181=) c.250G= (p.Asp84=) c.77-4129G= (n.77-4129G=) | |
16 | g.51141681C>G | CA8053437 | SALL1 | c.541G>C (p.Asp181His) c.250G>C (p.Asp84His) c.77-4129G>C (n.77-4129G>C) | dbSNP ExAC gnomAD v2 |
16 | g.51141681C>T | CA281303019 | SALL1 | c.541G>A (p.Asp181Asn) c.250G>A (p.Asp84Asn) c.77-4129G>A (n.77-4129G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.51141682C>A | CA495781445 | SALL1 | c.540G>T (p.Gly180=) c.249G>T (p.Gly83=) c.77-4130G>T (n.77-4130G>T) | |
16 | g.51141682C= | CA2222022682 | SALL1 | c.540G= (p.Gly180=) c.249G= (p.Gly83=) c.77-4130G= (n.77-4130G=) | |
16 | g.51141682C>G | CA495781446 | SALL1 | c.540G>C (p.Gly180=) c.249G>C (p.Gly83=) c.77-4130G>C (n.77-4130G>C) | |
16 | g.51141682C>T | CA8053438 | SALL1 | c.540G>A (p.Gly180=) c.249G>A (p.Gly83=) c.77-4130G>A (n.77-4130G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51141683C>A | CA395891606 | SALL1 | c.539G>T (p.Gly180Val) c.248G>T (p.Gly83Val) c.77-4131G>T (n.77-4131G>T) | |
16 | g.51141683C>G | CA395891608 | SALL1 | c.539G>C (p.Gly180Ala) c.248G>C (p.Gly83Ala) c.77-4131G>C (n.77-4131G>C) | |
16 | g.51141683C>T | CA395891610 | SALL1 | c.539G>A (p.Gly180Glu) c.248G>A (p.Gly83Glu) c.77-4131G>A (n.77-4131G>A) | |
16 | g.51141684C>A | CA395891611 | SALL1 | c.538G>T (p.Gly180Trp) c.247G>T (p.Gly83Trp) c.77-4132G>T (n.77-4132G>T) | |
16 | g.51141684C= | CA2222022685 | SALL1 | c.538G= (p.Gly180=) c.247G= (p.Gly83=) c.77-4132G= (n.77-4132G=) | |
16 | g.51141684C>G | CA395891613 | SALL1 | c.538G>C (p.Gly180Arg) c.247G>C (p.Gly83Arg) c.77-4132G>C (n.77-4132G>C) | |
16 | g.51141684C>T | CA8053439 | SALL1 | c.538G>A (p.Gly180Arg) c.247G>A (p.Gly83Arg) c.77-4132G>A (n.77-4132G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51141685G>A | CA8053440 | SALL1 | c.537C>T (p.Leu179=) c.246C>T (p.Leu82=) c.77-4133C>T (n.77-4133C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.51141685G>C | CA495781447 | SALL1 | c.537C>G (p.Leu179=) c.246C>G (p.Leu82=) c.77-4133C>G (n.77-4133C>G) | |
16 | g.51141685G= | CA2222022690 | SALL1 | c.537C= (p.Leu179=) c.246C= (p.Leu82=) c.77-4133C= (n.77-4133C=) | |
16 | g.51141685G>T | CA495781448 | SALL1 | c.537C>A (p.Leu179=) c.246C>A (p.Leu82=) c.77-4133C>A (n.77-4133C>A) | gnomAD v4 |
16 | g.51141686A>C | CA395891618 | SALL1 | c.536T>G (p.Leu179Arg) c.245T>G (p.Leu82Arg) c.77-4134T>G (n.77-4134T>G) | |
16 | g.51141686A>G | CA395891616 | SALL1 | c.536T>C (p.Leu179Pro) c.245T>C (p.Leu82Pro) c.77-4134T>C (n.77-4134T>C) | gnomAD v4 |
16 | g.51141686A>T | CA395891617 | SALL1 | c.536T>A (p.Leu179His) c.245T>A (p.Leu82His) c.77-4134T>A (n.77-4134T>A) | |
16 | g.51141687G>A | CA395891619 | SALL1 | c.535C>T (p.Leu179Phe) c.244C>T (p.Leu82Phe) c.77-4135C>T (n.77-4135C>T) | gnomAD v4 |
16 | g.51141687G>C | CA395891620 | SALL1 | c.535C>G (p.Leu179Val) c.244C>G (p.Leu82Val) c.77-4135C>G (n.77-4135C>G) | gnomAD v4 |
16 | g.51141687G>T | CA395891622 | SALL1 | c.535C>A (p.Leu179Ile) c.244C>A (p.Leu82Ile) c.77-4135C>A (n.77-4135C>A) | |
16 | g.51141688T>A | CA395891623 | SALL1 | c.534A>T (p.Gln178His) c.243A>T (p.Gln81His) c.77-4136A>T (n.77-4136A>T) | |
16 | g.51141688T>C | CA495781449 | SALL1 | c.534A>G (p.Gln178=) c.243A>G (p.Gln81=) c.77-4136A>G (n.77-4136A>G) | gnomAD v4 |
16 | g.51141688T>G | CA395891625 | SALL1 | c.534A>C (p.Gln178His) c.243A>C (p.Gln81His) c.77-4136A>C (n.77-4136A>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51141688T= | CA2222022693 | SALL1 | c.534A= (p.Gln178=) c.243A= (p.Gln81=) c.77-4136A= (n.77-4136A=) | |
16 | g.51141689T>A | CA395891627 | SALL1 | c.533A>T (p.Gln178Leu) c.242A>T (p.Gln81Leu) c.77-4137A>T (n.77-4137A>T) | |
16 | g.51141689T>C | CA395891629 | SALL1 | c.533A>G (p.Gln178Arg) c.242A>G (p.Gln81Arg) c.77-4137A>G (n.77-4137A>G) |