Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
Y | g.641037C>A | CA2467802732 | c.583C>A (p.Arg195=) | dbSNP | |
Y | g.641037C= | CA2467802731 | c.583C= (p.Arg195=) | ||
Y | g.641037C>T | CA213425 | c.583C>T (p.Arg195Ter) | ClinVar dbSNP | |
Y | g.641038G>A | CA2467802734 | c.584G>A (p.Arg195Gln) | ClinVar dbSNP | |
Y | g.641038G>C | CA2467802735 | c.584G>C (p.Arg195Pro) | dbSNP | |
Y | g.641038G= | CA2467802733 | c.584G= (p.Arg195=) | ||
Y | g.641039A= | CA2467802736 | c.585A= (p.Arg195=) | ||
Y | g.641039A>C | CA2467802737 | c.585A>C (p.Arg195=) | dbSNP | |
Y | g.641040G>A | CA2467802739 | c.586G>A (p.Val196Met) | dbSNP | |
Y | g.641040G= | CA2467802738 | c.586G= (p.Val196=) | ||
Y | g.641041T>A | CA2739184198 | c.587T>A (p.Val196Glu) | dbSNP | |
Y | g.641046C= | CA2467802740 | c.592C= (p.Pro198=) | ||
Y | g.641046C>T | CA2467802741 | c.592C>T (p.Pro198Ser) | dbSNP | |
Y | g.641048C= | CA2467802743 | c.594C= (p.Pro198=) | ||
Y | g.641048C>G | CA2467802744 | c.594C>G (p.Pro198=) | dbSNP | |
Y | g.641048C>T | CA2467802742 | c.594C>T (p.Pro198=) | dbSNP | |
Y | g.641050A= | CA2467802745 | c.596A= (p.Tyr199=) | ||
Y | g.641050A>G | CA2467802746 | c.596A>G (p.Tyr199Cys) | dbSNP | |
Y | g.641051C= | CA2467802747 | c.597C= (p.Tyr199=) | ||
Y | g.641051C>G | CA254910 | c.597C>G (p.Tyr199Ter) | ClinVar dbSNP | |
Y | g.641051C>T | CA2467802748 | c.597C>T (p.Tyr199=) | dbSNP | |
Y | g.641052G>A | CA2467802750 | c.598G>A (p.Val200Ile) | dbSNP | |
Y | g.641052G= | CA2467802749 | c.598G= (p.Val200=) | ||
Y | g.641056A= | CA2467802751 | c.602A= (p.Asn201=) | ||
Y | g.641056A>G | CA2467802752 | c.602A>G (p.Asn201Ser) | dbSNP | |
Y | g.641058_641059delinsAT | CA2467802753 | c.604_605delinsAT (p.Met202=) | ||
Y | g.641059del | CA1139667940 | c.605del (p.Met202ArgfsTer22) c.605del (p.Met202ArgfsTer?) | ClinVar dbSNP | |
Y | g.641059T>G | CA2467802755 | c.605T>G (p.Met202Arg) | dbSNP | |
Y | g.641059T= | CA2467802754 | c.605T= (p.Met202=) | ||
Y | g.641060G>A | CA2467802756 | c.606G>A (p.Met202Ile) | ClinVar dbSNP | |
Y | g.641060G= | CA2467802757 | c.606G= (p.Met202=) | ||
Y | g.641062G>C | CA2467802759 | c.608G>C (p.Gly203Ala) | dbSNP | |
Y | g.641062G= | CA2467802758 | c.608G= (p.Gly203=) | ||
Y | g.641062G>T | CA2467802760 | c.608G>T (p.Gly203Val) | dbSNP | |
Y | g.641065C>A | CA2467802762 | c.611C>A (p.Ala204Asp) | ClinVar dbSNP | |
Y | g.641065C= | CA2467802761 | c.611C= (p.Ala204=) | ||
Y | g.641065C>G | CA2467802763 | c.611C>G (p.Ala204Gly) | dbSNP | |
Y | g.641065C>T | CA2467802764 | c.611C>T (p.Ala204Val) | dbSNP | |
Y | g.641068T>C | CA2467802766 | c.614T>C (p.Leu205Ser) | dbSNP | |
Y | g.641068T= | CA2467802765 | c.614T= (p.Leu205=) | ||
Y | g.641069A= | CA2467802767 | c.615A= (p.Leu205=) | ||
Y | g.641069A>G | CA2467802768 | c.615A>G (p.Leu205=) | dbSNP | |
Y | g.641069_641070insAA | CA2499226929 | c.615_616insAA (p.Arg206AsnfsTer19) c.615_616insAA (p.Arg206AsnfsTer?) | ClinVar dbSNP | |
Y | g.641070C= | CA2467802769 | c.616C= (p.Arg206=) | ||
Y | g.641070C>T | CA2467802770 | c.616C>T (p.Arg206Trp) | ClinVar dbSNP | |
Y | g.641071G>A | CA2467802772 | c.617G>A (p.Arg206Gln) | ClinVar dbSNP | |
Y | g.641071G= | CA2467802771 | c.617G= (p.Arg206=) | ||
Y | g.641075G= | CA2467802773 | c.621G= (p.Met207=) | ||
Y | g.641075G>T | CA2467802774 | c.621G>T (p.Met207Ile) | dbSNP | |
Y | g.641076C= | CA2467802775 | c.622C= (p.Pro208=) |