Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.103458487_103458495delinsGGCGGCCCA | CA1933125605 | CALHM1 | c.257_265delinsTGGGCCGCC (p.Leu86=) | |
10 | g.103458494_103458501del | CA5674753 | CALHM1 | c.257_264del (p.Leu86ProfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.103458495A= | CA1933125646 | CALHM1 | c.257T= (p.Leu86=) | |
10 | g.103458495A>C | CA378040708 | CALHM1 | c.257T>G (p.Leu86Arg) | dbSNP |
10 | g.103458495A>G | CA5674757 | CALHM1 | c.257T>C (p.Leu86Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.103458495A>T | CA378040709 | CALHM1 | c.257T>A (p.Leu86Gln) | dbSNP gnomAD v4 |
10 | g.103458495_103458497delinsAGC | CA1933125651 | CALHM1 | c.255_257delinsGCT (p.Pro85=) | |
10 | g.103458495_103458497delinsGGT | CA212378472 | CALHM1 | c.255_257delinsACC (p.Leu86Pro) | dbSNP |
10 | g.103458496G>A | CA471499874 | CALHM1 | c.256C>T (p.Leu86=) | gnomAD v4 |
10 | g.103458496G>C | CA378040710 | CALHM1 | c.256C>G (p.Leu86Val) | |
10 | g.103458496G>T | CA378040711 | CALHM1 | c.256C>A (p.Leu86Met) | |
10 | g.103458496_103458497insGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA932018765 | CALHM1 | c.256_257insCCCCCCCCCCCCCCCCCCCCCCCCCCC (p.Pro85_Leu86insProProProProProProProProPro) | gnomAD v3 gnomAD v4 |
10 | g.103458497C>A | CA471499875 | CALHM1 | c.255G>T (p.Pro85=) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.103458497C= | CA1933125655 | CALHM1 | c.255G= (p.Pro85=) | |
10 | g.103458497C>G | CA471499876 | CALHM1 | c.255G>C (p.Pro85=) | |
10 | g.103458497C>T | CA5674758 | CALHM1 | c.255G>A (p.Pro85=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.103458498G>A | CA5674759 | CALHM1 | c.254C>T (p.Pro85Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.103458498G>C | CA378040712 | CALHM1 | c.254C>G (p.Pro85Arg) | |
10 | g.103458498G= | CA1933125659 | CALHM1 | c.254C= (p.Pro85=) | |
10 | g.103458498G>T | CA378040713 | CALHM1 | c.254C>A (p.Pro85Gln) | |
10 | g.103458501_103458502insCGGTGGCC | CA2610764996 | CALHM1 | c.254_255insACCGGGCC (p.Leu86ProfsTer?) | gnomAD v4 |
10 | g.103458499G>A | CA378040714 | CALHM1 | c.253C>T (p.Pro85Ser) | |
10 | g.103458499G>C | CA378040715 | CALHM1 | c.253C>G (p.Pro85Ala) | |
10 | g.103458499G>T | CA378040716 | CALHM1 | c.253C>A (p.Pro85Thr) | |
10 | g.103458500C>A | CA471499877 | CALHM1 | c.252G>T (p.Arg84=) | gnomAD v4 |
10 | g.103458500C>G | CA471499879 | CALHM1 | c.252G>C (p.Arg84=) | |
10 | g.103458500C>T | CA471499882 | CALHM1 | c.252G>A (p.Arg84=) | |
10 | g.103458501C>A | CA378040718 | CALHM1 | c.251G>T (p.Arg84Leu) | |
10 | g.103458501C= | CA1933125663 | CALHM1 | c.251G= (p.Arg84=) | |
10 | g.103458501C>G | CA378040717 | CALHM1 | c.251G>C (p.Arg84Pro) | gnomAD v4 |
10 | g.103458501C>T | CA5674760 | CALHM1 | c.251G>A (p.Arg84Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.103458502G>A | CA5674761 | CALHM1 | c.250C>T (p.Arg84Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.103458502G>C | CA378040719 | CALHM1 | c.250C>G (p.Arg84Gly) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.103458502G= | CA1933125669 | CALHM1 | c.250C= (p.Arg84=) | |
10 | g.103458502G>T | CA471499883 | CALHM1 | c.250C>A (p.Arg84=) | gnomAD v4 |
10 | g.103458503C>A | CA378040720 | CALHM1 | c.249G>T (p.Lys83Asn) | |
10 | g.103458503C= | CA1933125673 | CALHM1 | c.249G= (p.Lys83=) | |
10 | g.103458503C>G | CA5674762 | CALHM1 | c.249G>C (p.Lys83Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.103458503C>T | CA471499884 | CALHM1 | c.249G>A (p.Lys83=) | |
10 | g.103458504T>A | CA378040721 | CALHM1 | c.248A>T (p.Lys83Met) | |
10 | g.103458504T>C | CA378040722 | CALHM1 | c.248A>G (p.Lys83Arg) | |
10 | g.103458504T>G | CA378040723 | CALHM1 | c.248A>C (p.Lys83Thr) | |
10 | g.103458505T>A | CA378040724 | CALHM1 | c.247A>T (p.Lys83Ter) | |
10 | g.103458505T>C | CA378040725 | CALHM1 | c.247A>G (p.Lys83Glu) | |
10 | g.103458505T>G | CA5674763 | CALHM1 | c.247A>C (p.Lys83Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.103458505T= | CA1933125679 | CALHM1 | c.247A= (p.Lys83=) | |
10 | g.103458506C>A | CA378040726 | CALHM1 | c.246G>T (p.Trp82Cys) | |
10 | g.103458506C= | CA1933125681 | CALHM1 | c.246G= (p.Trp82=) | |
10 | g.103458506C>G | CA378040727 | CALHM1 | c.246G>C (p.Trp82Cys) | |
10 | g.103458506C>T | CA5674764 | CALHM1 | c.246G>A (p.Trp82Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |