Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.150974747_150974813del | CA2580077678 | KCNH2 | c.205_271del (p.Leu69SerfsTer25) c.28_94del (p.Leu10SerfsTer25) n.428_494del | ClinVar |
7 | g.150974782_150974814del | CA2695208662 | KCNH2 | c.205_237del (p.Leu69_Ala79del) c.28_60del (p.Leu10_Ala20del) n.428_460del | |
7 | g.150974807C>A | CA369865595 | KCNH2 | c.211G>T (p.Gly71Trp) c.34G>T (p.Gly12Trp) n.434G>T | ClinVar dbSNP |
7 | g.150974807C= | CA1752462330 | KCNH2 | c.211G= (p.Gly71=) c.34G= (p.Gly12=) n.434G= | |
7 | g.150974807C>G | CA006261 | KCNH2 | c.211G>C (p.Gly71Arg) c.34G>C (p.Gly12Arg) n.434G>C | ClinVar dbSNP |
7 | g.150974807C>T | CA369865597 | KCNH2 | c.211G>A (p.Gly71Arg) c.34G>A (p.Gly12Arg) n.434G>A | ClinVar dbSNP gnomAD v2 |
7 | g.150974808G>A | CA458871909 | KCNH2 | c.210C>T (p.His70=) c.33C>T (p.His11=) n.433C>T | dbSNP gnomAD v4 |
7 | g.150974808G>C | CA369865601 | KCNH2 | c.210C>G (p.His70Gln) c.33C>G (p.His11Gln) n.433C>G | |
7 | g.150974808G= | CA1752462340 | KCNH2 | c.210C= (p.His70=) c.33C= (p.His11=) n.433C= | |
7 | g.150974808G>T | CA369865599 | KCNH2 | c.210C>A (p.His70Gln) c.33C>A (p.His11Gln) n.433C>A | |
7 | g.150974815_150974830dup | CA2573141818 | KCNH2 | c.195_210dup (p.Gly71LeufsTer?) c.18_33dup (p.Gly12LeufsTer?) n.418_433dup | ClinVar dbSNP |
7 | g.150974809T>A | CA369865603 | KCNH2 | c.209A>T (p.His70Leu) c.32A>T (p.His11Leu) n.432A>T | |
7 | g.150974809T>C | CA006229 | KCNH2 | c.209A>G (p.His70Arg) c.32A>G (p.His11Arg) n.432A>G | ClinVar dbSNP |
7 | g.150974809T>G | CA369865605 | KCNH2 | c.209A>C (p.His70Pro) c.32A>C (p.His11Pro) n.432A>C | |
7 | g.150974809T= | CA1752462341 | KCNH2 | c.209A= (p.His70=) c.32A= (p.His11=) n.432A= | |
7 | g.150974810G>A | CA369865607 | KCNH2 | c.208C>T (p.His70Tyr) c.31C>T (p.His11Tyr) n.431C>T | gnomAD v4 |
7 | g.150974810G>C | CA369865609 | KCNH2 | c.208C>G (p.His70Asp) c.31C>G (p.His11Asp) n.431C>G | |
7 | g.150974810G= | CA1752462349 | KCNH2 | c.208C= (p.His70=) c.31C= (p.His11=) n.431C= | |
7 | g.150974810G>T | CA006222 | KCNH2 | c.208C>A (p.His70Asn) c.31C>A (p.His11Asn) n.431C>A | ClinVar dbSNP |
7 | g.150974811_150974854del | CA2685604706 | KCNH2 | c.165_208del (p.Glu58AlafsTer?) c.-13_31del n.388_431del | gnomAD v4 |
7 | g.150974811C>A | CA458871923 | KCNH2 | c.207G>T (p.Leu69=) c.30G>T (p.Leu10=) n.430G>T | |
7 | g.150974811C>G | CA458871922 | KCNH2 | c.207G>C (p.Leu69=) c.30G>C (p.Leu10=) n.430G>C | |
7 | g.150974811C>T | CA458871920 | KCNH2 | c.207G>A (p.Leu69=) c.30G>A (p.Leu10=) n.430G>A | |
7 | g.150974812A= | CA1752462355 | KCNH2 | c.206T= (p.Leu69=) c.29T= (p.Leu10=) n.429T= | |
7 | g.150974812A>C | CA369865612 | KCNH2 | c.206T>G (p.Leu69Arg) c.29T>G (p.Leu10Arg) n.429T>G | |
7 | g.150974812A>G | CA006187 | KCNH2 | c.206T>C (p.Leu69Pro) c.29T>C (p.Leu10Pro) n.429T>C | ClinVar dbSNP |
7 | g.150974812A>T | CA369865614 | KCNH2 | c.206T>A (p.Leu69Gln) c.29T>A (p.Leu10Gln) n.429T>A | ClinVar dbSNP |
7 | g.150974813G>A | CA458871924 | KCNH2 | c.205C>T (p.Leu69=) c.28C>T (p.Leu10=) n.428C>T | gnomAD v4 |
7 | g.150974813G>C | CA369865616 | KCNH2 | c.205C>G (p.Leu69Val) c.28C>G (p.Leu10Val) n.428C>G | |
7 | g.150974813G>T | CA369865618 | KCNH2 | c.205C>A (p.Leu69Met) c.28C>A (p.Leu10Met) n.428C>A | |
7 | g.150974814G>A | CA458871930 | KCNH2 | c.204C>T (p.Phe68=) c.27C>T (p.Phe9=) n.427C>T | gnomAD v4 |
7 | g.150974814G>C | CA369865620 | KCNH2 | c.204C>G (p.Phe68Leu) c.27C>G (p.Phe9Leu) n.427C>G | |
7 | g.150974814G>T | CA369865622 | KCNH2 | c.204C>A (p.Phe68Leu) c.27C>A (p.Phe9Leu) n.427C>A | |
7 | g.150974815A= | CA1752440846 | KCNH2 | c.203T= (p.Phe68=) c.26T= (p.Phe9=) n.426T= | |
7 | g.150974815A>C | CA369865625 | KCNH2 | c.203T>G (p.Phe68Cys) c.26T>G (p.Phe9Cys) n.426T>G | ClinVar dbSNP |
7 | g.150974815A>G | CA369865626 | KCNH2 | c.203T>C (p.Phe68Ser) c.26T>C (p.Phe9Ser) n.426T>C | |
7 | g.150974815A>T | CA369865623 | KCNH2 | c.203T>A (p.Phe68Tyr) c.26T>A (p.Phe9Tyr) n.426T>A | |
7 | g.150974816A= | CA1752440849 | KCNH2 | c.202T= (p.Phe68=) c.25T= (p.Phe9=) n.425T= | |
7 | g.150974816A>C | CA369865629 | KCNH2 | c.202T>G (p.Phe68Val) c.25T>G (p.Phe9Val) n.425T>G | |
7 | g.150974816A>G | CA006163 | KCNH2 | c.202T>C (p.Phe68Leu) c.25T>C (p.Phe9Leu) n.425T>C | ClinVar dbSNP |
7 | g.150974816A>T | CA072439 | KCNH2 | c.202T>A (p.Phe68Ile) c.25T>A (p.Phe9Ile) n.425T>A | |
7 | g.150974817G>A | CA458871938 | KCNH2 | c.201C>T (p.Asp67=) c.24C>T (p.Asp8=) n.424C>T | gnomAD v4 |
7 | g.150974817G>C | CA369865631 | KCNH2 | c.201C>G (p.Asp67Glu) c.24C>G (p.Asp8Glu) n.424C>G | |
7 | g.150974817G>T | CA369865632 | KCNH2 | c.201C>A (p.Asp67Glu) c.24C>A (p.Asp8Glu) n.424C>A | |
7 | g.150974818T>A | CA369865638 | KCNH2 | c.200A>T (p.Asp67Val) c.23A>T (p.Asp8Val) n.423A>T | |
7 | g.150974818T>C | CA369865634 | KCNH2 | c.200A>G (p.Asp67Gly) c.23A>G (p.Asp8Gly) n.423A>G | ClinVar dbSNP |
7 | g.150974818T>G | CA369865636 | KCNH2 | c.200A>C (p.Asp67Ala) c.23A>C (p.Asp8Ala) n.423A>C | |
7 | g.150974818T= | CA1752440853 | KCNH2 | c.200A= (p.Asp67=) c.23A= (p.Asp8=) n.423A= | |
7 | g.150974819C>A | CA369865640 | KCNH2 | c.199G>T (p.Asp67Tyr) c.22G>T (p.Asp8Tyr) n.422G>T | |
7 | g.150974819C>G | CA369865642 | KCNH2 | c.199G>C (p.Asp67His) c.22G>C (p.Asp8His) n.422G>C |