Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.150974735C>A | CA369865351 | KCNH2 | c.283G>T (p.Glu95Ter) c.106G>T (p.Glu36Ter) n.506G>T | |
7 | g.150974735C= | CA1752461881 | KCNH2 | c.283G= (p.Glu95=) c.106G= (p.Glu36=) n.506G= | |
7 | g.150974735C>G | CA369865353 | KCNH2 | c.283G>C (p.Glu95Gln) c.106G>C (p.Glu36Gln) n.506G>C | |
7 | g.150974735C>T | CA035006 | KCNH2 | c.283G>A (p.Glu95Lys) c.106G>A (p.Glu36Lys) n.506G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150974736C>A | CA458871726 | KCNH2 | c.282G>T (p.Val94=) c.105G>T (p.Val35=) n.505G>T | |
7 | g.150974736C>G | CA458871727 | KCNH2 | c.282G>C (p.Val94=) c.105G>C (p.Val35=) n.505G>C | |
7 | g.150974736C>T | CA458871728 | KCNH2 | c.282G>A (p.Val94=) c.105G>A (p.Val35=) n.505G>A | |
7 | g.150974737del | CA2695208649 | KCNH2 | c.281del (p.Val94GlyfsTer22) c.104del (p.Val35GlyfsTer22) n.504del | |
7 | g.150974737A= | CA1752461883 | KCNH2 | c.281T= (p.Val94=) c.104T= (p.Val35=) n.504T= | |
7 | g.150974737A>C | CA007478 | KCNH2 | c.281T>G (p.Val94Gly) c.104T>G (p.Val35Gly) n.504T>G | ClinVar dbSNP |
7 | g.150974737A>G | CA369865356 | KCNH2 | c.281T>C (p.Val94Ala) c.104T>C (p.Val35Ala) n.504T>C | gnomAD v4 |
7 | g.150974737A>T | CA369865358 | KCNH2 | c.281T>A (p.Val94Glu) c.104T>A (p.Val35Glu) n.504T>A | |
7 | g.150974738C>A | CA369865360 | KCNH2 | c.280G>T (p.Val94Leu) c.103G>T (p.Val35Leu) n.503G>T | |
7 | g.150974738C= | CA1752461890 | KCNH2 | c.280G= (p.Val94=) c.103G= (p.Val35=) n.503G= | |
7 | g.150974738C>G | CA034895 | KCNH2 | c.280G>C (p.Val94Leu) c.103G>C (p.Val35Leu) n.503G>C | ClinVar dbSNP ExAC gnomAD v4 |
7 | g.150974738C>T | CA072383 | KCNH2 | c.280G>A (p.Val94Met) c.103G>A (p.Val35Met) n.503G>A | ClinVar dbSNP |
7 | g.150974739T>A | CA369865364 | KCNH2 | c.279A>T (p.Lys93Asn) c.102A>T (p.Lys34Asn) n.502A>T | |
7 | g.150974739T>C | CA458871729 | KCNH2 | c.279A>G (p.Lys93=) c.102A>G (p.Lys34=) n.502A>G | ClinVar dbSNP |
7 | g.150974739T>G | CA369865365 | KCNH2 | c.279A>C (p.Lys93Asn) c.102A>C (p.Lys34Asn) n.502A>C | |
7 | g.150974740T>A | CA369865367 | KCNH2 | c.278A>T (p.Lys93Ile) c.101A>T (p.Lys34Ile) n.501A>T | |
7 | g.150974740T>C | CA034847 | KCNH2 | c.278A>G (p.Lys93Arg) c.101A>G (p.Lys34Arg) n.501A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150974740T>G | CA369865370 | KCNH2 | c.278A>C (p.Lys93Thr) c.101A>C (p.Lys34Thr) n.501A>C | |
7 | g.150974740T= | CA1752461892 | KCNH2 | c.278A= (p.Lys93=) c.101A= (p.Lys34=) n.501A= | |
7 | g.150974741T>A | CA369865372 | KCNH2 | c.277A>T (p.Lys93Ter) c.100A>T (p.Lys34Ter) n.500A>T | |
7 | g.150974741T>C | CA369865374 | KCNH2 | c.277A>G (p.Lys93Glu) c.100A>G (p.Lys34Glu) n.500A>G | |
7 | g.150974741T>G | CA369865376 | KCNH2 | c.277A>C (p.Lys93Gln) c.100A>C (p.Lys34Gln) n.500A>C | dbSNP gnomAD v3 gnomAD v4 |
7 | g.150974741T= | CA1752461898 | KCNH2 | c.277A= (p.Lys93=) c.100A= (p.Lys34=) n.500A= | |
7 | g.150974742G>A | CA034744 | KCNH2 | c.276C>T (p.Arg92=) c.99C>T (p.Arg33=) n.499C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150974742G>C | CA458871730 | KCNH2 | c.276C>G (p.Arg92=) c.99C>G (p.Arg33=) n.499C>G | |
7 | g.150974742G= | CA1752461904 | KCNH2 | c.276C= (p.Arg92=) c.99C= (p.Arg33=) n.499C= | |
7 | g.150974742G>T | CA458871731 | KCNH2 | c.276C>A (p.Arg92=) c.99C>A (p.Arg33=) n.499C>A | gnomAD v4 |
7 | g.150974743C>A | CA007325 | KCNH2 | c.275G>T (p.Arg92Leu) c.98G>T (p.Arg33Leu) n.498G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.150974743C= | CA1752461915 | KCNH2 | c.275G= (p.Arg92=) c.98G= (p.Arg33=) n.498G= | |
7 | g.150974743C>G | CA369865378 | KCNH2 | c.275G>C (p.Arg92Pro) c.98G>C (p.Arg33Pro) n.498G>C | ClinVar dbSNP |
7 | g.150974743C>T | CA369865380 | KCNH2 | c.275G>A (p.Arg92His) c.98G>A (p.Arg33His) n.498G>A | gnomAD v4 |
7 | g.150974744G>A | CA007279 | KCNH2 | c.274C>T (p.Arg92Cys) c.97C>T (p.Arg33Cys) n.497C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150974744G>C | CA369865383 | KCNH2 | c.274C>G (p.Arg92Gly) c.97C>G (p.Arg33Gly) n.497C>G | |
7 | g.150974744G= | CA1752461929 | KCNH2 | c.274C= (p.Arg92=) c.97C= (p.Arg33=) n.497C= | |
7 | g.150974744G>T | CA369865385 | KCNH2 | c.274C>A (p.Arg92Ser) c.97C>A (p.Arg33Ser) n.497C>A | gnomAD v4 |
7 | g.150974745C>A | CA072378 | KCNH2 | c.273G>T (p.Glu91Asp) c.96G>T (p.Glu32Asp) n.496G>T | ClinVar dbSNP gnomAD v4 |
7 | g.150974745C= | CA1752461936 | KCNH2 | c.273G= (p.Glu91=) c.96G= (p.Glu32=) n.496G= | |
7 | g.150974745C>G | CA369865388 | KCNH2 | c.273G>C (p.Glu91Asp) c.96G>C (p.Glu32Asp) n.496G>C | gnomAD v4 |
7 | g.150974745C>T | CA458871732 | KCNH2 | c.273G>A (p.Glu91=) c.96G>A (p.Glu32=) n.496G>A | dbSNP gnomAD v4 |
7 | g.150974746T>A | CA369865390 | KCNH2 | c.272A>T (p.Glu91Val) c.95A>T (p.Glu32Val) n.495A>T | ClinVar dbSNP |
7 | g.150974746T>C | CA369865393 | KCNH2 | c.272A>G (p.Glu91Gly) c.95A>G (p.Glu32Gly) n.495A>G | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150974746T>G | CA369865392 | KCNH2 | c.272A>C (p.Glu91Ala) c.95A>C (p.Glu32Ala) n.495A>C | |
7 | g.150974746T= | CA1752461941 | KCNH2 | c.272A= (p.Glu91=) c.95A= (p.Glu32=) n.495A= | |
7 | g.150974747C>A | CA369865395 | KCNH2 | c.271G>T (p.Glu91Ter) c.94G>T (p.Glu32Ter) n.494G>T | gnomAD v4 |
7 | g.150974747C>G | CA369865396 | KCNH2 | c.271G>C (p.Glu91Gln) c.94G>C (p.Glu32Gln) n.494G>C | |
7 | g.150974747C>T | CA369865398 | KCNH2 | c.271G>A (p.Glu91Lys) c.94G>A (p.Glu32Lys) n.494G>A | gnomAD v4 COSMIC COSMIC |