Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.150974811_150974854del | CA2685604706 | KCNH2 | c.165_208del (p.Glu58AlafsTer?) c.-13_31del n.388_431del | gnomAD v4 |
7 | g.150974832T>A | CA458871998 | KCNH2 | c.186A>T (p.Arg62=) c.9A>T (p.Arg3=) n.409A>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150974832T>C | CA458871999 | KCNH2 | c.186A>G (p.Arg62=) c.9A>G (p.Arg3=) n.409A>G | ClinVar |
7 | g.150974832T>G | CA458872001 | KCNH2 | c.186A>C (p.Arg62=) c.9A>C (p.Arg3=) n.409A>C | |
7 | g.150974832T= | CA1752440926 | KCNH2 | c.186A= (p.Arg62=) c.9A= (p.Arg3=) n.409A= | |
7 | g.150974833C>A | CA369865688 | KCNH2 | c.185G>T (p.Arg62Leu) c.8G>T (p.Arg3Leu) n.408G>T | |
7 | g.150974833C= | CA1752440932 | KCNH2 | c.185G= (p.Arg62=) c.8G= (p.Arg3=) n.408G= | |
7 | g.150974833C>G | CA369865690 | KCNH2 | c.185G>C (p.Arg62Pro) c.8G>C (p.Arg3Pro) n.408G>C | |
7 | g.150974833C>T | CA005697 | KCNH2 | c.185G>A (p.Arg62Gln) c.8G>A (p.Arg3Gln) n.408G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150974834_150974835del | CA2519673830 | KCNH2 | c.184_185del (p.Arg62ThrfsTer?) c.7_8del (p.Arg3ThrfsTer?) n.407_408del | |
7 | g.150974834G>A | CA369865693 | KCNH2 | c.184C>T (p.Arg62Ter) c.7C>T (p.Arg3Ter) n.407C>T | gnomAD v4 |
7 | g.150974834G>C | CA369865695 | KCNH2 | c.184C>G (p.Arg62Gly) c.7C>G (p.Arg3Gly) n.407C>G | |
7 | g.150974834G= | CA1752440937 | KCNH2 | c.184C= (p.Arg62=) c.7C= (p.Arg3=) n.407C= | |
7 | g.150974834G>T | CA458872223 | KCNH2 | c.184C>A (p.Arg62=) c.7C>A (p.Arg3=) n.407C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.150974835C>A | CA369865697 | KCNH2 | c.183G>T (p.Gln61His) c.6G>T (p.Gln2His) n.406G>T | |
7 | g.150974835C>G | CA369865698 | KCNH2 | c.183G>C (p.Gln61His) c.6G>C (p.Gln2His) n.406G>C | |
7 | g.150974835C>T | CA458872227 | KCNH2 | c.183G>A (p.Gln61=) c.6G>A (p.Gln2=) n.406G>A | |
7 | g.150974835_150974836delinsAG | CA2695208670 | KCNH2 | c.182_183delinsCT (p.Gln61Pro) c.5_6delinsCT (p.Gln2Pro) n.405_406delinsCT | |
7 | g.150974836T>A | CA369865701 | KCNH2 | c.182A>T (p.Gln61Leu) c.5A>T (p.Gln2Leu) n.405A>T | |
7 | g.150974836T>C | CA369865705 | KCNH2 | c.182A>G (p.Gln61Arg) c.5A>G (p.Gln2Arg) n.405A>G | ClinVar |
7 | g.150974836T>G | CA369865703 | KCNH2 | c.182A>C (p.Gln61Pro) c.5A>C (p.Gln2Pro) n.405A>C | |
7 | g.150974837G>A | CA369865707 | KCNH2 | c.181C>T (p.Gln61Ter) c.4C>T (p.Gln2Ter) n.404C>T | gnomAD v4 |
7 | g.150974837G>C | CA369865709 | KCNH2 | c.181C>G (p.Gln61Glu) c.4C>G (p.Gln2Glu) n.404C>G | gnomAD v4 |
7 | g.150974837G>T | CA369865710 | KCNH2 | c.181C>A (p.Gln61Lys) c.4C>A (p.Gln2Lys) n.404C>A | |
7 | g.150974838C>A | CA369865712 | KCNH2 | c.180G>T (p.Met60Ile) c.3G>T (p.Met1Ile) n.403G>T | |
7 | g.150974838C>G | CA369865714 | KCNH2 | c.180G>C (p.Met60Ile) c.3G>C (p.Met1Ile) n.403G>C | |
7 | g.150974838C>T | CA369865716 | KCNH2 | c.180G>A (p.Met60Ile) c.3G>A (p.Met1Ile) n.403G>A | ClinVar COSMIC COSMIC |
7 | g.150974839A>C | CA369865718 | KCNH2 | c.179T>G (p.Met60Arg) c.2T>G (p.Met1Arg) n.402T>G | |
7 | g.150974839A>G | CA369865720 | KCNH2 | c.179T>C (p.Met60Thr) c.2T>C (p.Met1Thr) n.402T>C | |
7 | g.150974839A>T | CA369865722 | KCNH2 | c.179T>A (p.Met60Lys) c.2T>A (p.Met1Lys) n.402T>A | |
7 | g.150974840T>A | CA369865727 | KCNH2 | c.178A>T (p.Met60Leu) c.1A>T (p.Met1Leu) n.401A>T | |
7 | g.150974840T>C | CA369865726 | KCNH2 | c.178A>G (p.Met60Val) c.1A>G (p.Met1Val) n.401A>G | |
7 | g.150974840T>G | CA369865724 | KCNH2 | c.178A>C (p.Met60Leu) c.1A>C (p.Met1Leu) n.401A>C | |
7 | g.150974841C>A | CA071355 | KCNH2 | c.177G>T (p.Val59=) c.-1G>T (n.-1G>T) n.400G>T | |
7 | g.150974841C= | CA1752440944 | KCNH2 | c.177G= (p.Val59=) c.-1G= (n.-1G=) n.400G= | |
7 | g.150974841C>G | CA458872259 | KCNH2 | c.177G>C (p.Val59=) c.-1G>C (n.-1G>C) n.400G>C | |
7 | g.150974841C>T | CA029471 | KCNH2 | c.177G>A (p.Val59=) c.-1G>A (n.-1G>A) n.400G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150974842A>C | CA369865731 | KCNH2 | c.176T>G (p.Val59Gly) c.-2T>G (n.-2T>G) n.399T>G | |
7 | g.150974842A>G | CA369865732 | KCNH2 | c.176T>C (p.Val59Ala) c.-2T>C (n.-2T>C) n.399T>C | |
7 | g.150974842A>T | CA369865734 | KCNH2 | c.176T>A (p.Val59Glu) c.-2T>A (n.-2T>A) n.399T>A | |
7 | g.150974843C>A | CA369865737 | KCNH2 | c.175G>T (p.Val59Leu) c.-3G>T (n.-3G>T) n.398G>T | |
7 | g.150974843C>G | CA369865738 | KCNH2 | c.175G>C (p.Val59Leu) c.-3G>C (n.-3G>C) n.398G>C | |
7 | g.150974843C>T | CA369865739 | KCNH2 | c.175G>A (p.Val59Met) c.-3G>A (n.-3G>A) n.398G>A | |
7 | g.150974844C>A | CA369865741 | KCNH2 | c.174G>T (p.Glu58Asp) c.-4G>T (n.-4G>T) n.397G>T | |
7 | g.150974844C= | CA1752440948 | KCNH2 | c.174G= (p.Glu58=) c.-4G= (n.-4G=) n.397G= | |
7 | g.150974844C>G | CA005364 | KCNH2 | c.174G>C (p.Glu58Asp) c.-4G>C (n.-4G>C) n.397G>C | ClinVar dbSNP |
7 | g.150974844C>T | CA458872295 | KCNH2 | c.174G>A (p.Glu58=) c.-4G>A (n.-4G>A) n.397G>A | gnomAD v4 |
7 | g.150974845T>A | CA369865742 | KCNH2 | c.173A>T (p.Glu58Val) c.-5A>T (n.-5A>T) n.396A>T | |
7 | g.150974845T>C | CA005331 | KCNH2 | c.173A>G (p.Glu58Gly) c.-5A>G (n.-5A>G) n.396A>G | ClinVar dbSNP |
7 | g.150974845T>G | CA005322 | KCNH2 | c.173A>C (p.Glu58Ala) c.-5A>C (n.-5A>C) n.396A>C | ClinVar dbSNP |