Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.150974731A= | CA1752461862 | KCNH2 | c.287T= (p.Ile96=) c.110T= (p.Ile37=) n.510T= | |
7 | g.150974731A>C | CA369865335 | KCNH2 | c.287T>G (p.Ile96Ser) c.110T>G (p.Ile37Ser) n.510T>G | |
7 | g.150974731A>G | CA007567 | KCNH2 | c.287T>C (p.Ile96Thr) c.110T>C (p.Ile37Thr) n.510T>C | ClinVar dbSNP |
7 | g.150974731A>T | CA369865337 | KCNH2 | c.287T>A (p.Ile96Asn) c.110T>A (p.Ile37Asn) n.510T>A | |
7 | g.150974732T>A | CA369865339 | KCNH2 | c.286A>T (p.Ile96Phe) c.109A>T (p.Ile37Phe) n.509A>T | |
7 | g.150974732T>C | CA007547 | KCNH2 | c.286A>G (p.Ile96Val) c.109A>G (p.Ile37Val) n.509A>G | ClinVar dbSNP |
7 | g.150974732T>G | CA369865341 | KCNH2 | c.286A>C (p.Ile96Leu) c.109A>C (p.Ile37Leu) n.509A>C | |
7 | g.150974732T= | CA1752461868 | KCNH2 | c.286A= (p.Ile96=) c.109A= (p.Ile37=) n.509A= | |
7 | g.150974733T>A | CA369865343 | KCNH2 | c.285A>T (p.Glu95Asp) c.108A>T (p.Glu36Asp) n.508A>T | |
7 | g.150974733T>C | CA458871725 | KCNH2 | c.285A>G (p.Glu95=) c.108A>G (p.Glu36=) n.508A>G | gnomAD v4 |
7 | g.150974733T>G | CA369865345 | KCNH2 | c.285A>C (p.Glu95Asp) c.108A>C (p.Glu36Asp) n.508A>C | |
7 | g.150974734T>A | CA369865346 | KCNH2 | c.284A>T (p.Glu95Val) c.107A>T (p.Glu36Val) n.507A>T | |
7 | g.150974734T>C | CA369865348 | KCNH2 | c.284A>G (p.Glu95Gly) c.107A>G (p.Glu36Gly) n.507A>G | gnomAD v4 |
7 | g.150974734T>G | CA007512 | KCNH2 | c.284A>C (p.Glu95Ala) c.107A>C (p.Glu36Ala) n.507A>C | ClinVar dbSNP |
7 | g.150974734T= | CA1752461875 | KCNH2 | c.284A= (p.Glu95=) c.107A= (p.Glu36=) n.507A= | |
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 | ClinVar 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 | ClinVar 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 |
7 | g.150974747_150974813del | CA2580077678 | KCNH2 | c.205_271del (p.Leu69SerfsTer25) c.28_94del (p.Leu10SerfsTer25) n.428_494del | ClinVar |
7 | g.150974748C>A | CA369865400 | KCNH2 | c.270G>T (p.Glu90Asp) c.93G>T (p.Glu31Asp) n.493G>T | gnomAD v4 |
7 | g.150974748C>G | CA369865401 | KCNH2 | c.270G>C (p.Glu90Asp) c.93G>C (p.Glu31Asp) n.493G>C | |
7 | g.150974748C>T | CA458871736 | KCNH2 | c.270G>A (p.Glu90=) c.93G>A (p.Glu31=) n.493G>A | ClinVar dbSNP gnomAD v4 |
7 | g.150974749T>A | CA369865403 | KCNH2 | c.269A>T (p.Glu90Val) c.92A>T (p.Glu31Val) n.492A>T | |
7 | g.150974749T>C | CA369865405 | KCNH2 | c.269A>G (p.Glu90Gly) c.92A>G (p.Glu31Gly) n.492A>G | ClinVar |
7 | g.150974749T>G | CA369865407 | KCNH2 | c.269A>C (p.Glu90Ala) c.92A>C (p.Glu31Ala) n.492A>C | |
7 | g.150974750C>A | CA369865409 | KCNH2 | c.268G>T (p.Glu90Ter) c.91G>T (p.Glu31Ter) n.491G>T | ClinVar COSMIC COSMIC |
7 | g.150974750C= | CA1752461950 | KCNH2 | c.268G= (p.Glu90=) c.91G= (p.Glu31=) n.491G= | |
7 | g.150974750C>G | CA034209 | KCNH2 | c.268G>C (p.Glu90Gln) c.91G>C (p.Glu31Gln) n.491G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150974750C>T | CA034184 | KCNH2 | c.268G>A (p.Glu90Lys) c.91G>A (p.Glu31Lys) n.491G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
7 | g.150974751G>A | CA458871739 | KCNH2 | c.267C>T (p.Ala89=) c.90C>T (p.Ala30=) n.490C>T | ClinVar gnomAD v4 |
7 | g.150974751G>C | CA034019 | KCNH2 | c.267C>G (p.Ala89=) c.90C>G (p.Ala30=) n.490C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150974751G= | CA1752461956 | KCNH2 | c.267C= (p.Ala89=) c.90C= (p.Ala30=) n.490C= | |
7 | g.150974751G>T | CA458871742 | KCNH2 | c.267C>A (p.Ala89=) c.90C>A (p.Ala30=) n.490C>A | gnomAD v4 |
7 | g.150974752G>A | CA007110 | KCNH2 | c.266C>T (p.Ala89Val) c.89C>T (p.Ala30Val) n.489C>T | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150974752G>C | CA033852 | KCNH2 | c.266C>G (p.Ala89Gly) c.89C>G (p.Ala30Gly) n.489C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150974752G= | CA1752461964 | KCNH2 | c.266C= (p.Ala89=) c.89C= (p.Ala30=) n.489C= | |
7 | g.150974752G>T | CA369865414 | KCNH2 | c.266C>A (p.Ala89Asp) c.89C>A (p.Ala30Asp) n.489C>A | |
7 | g.150974753C>A | CA369865417 | KCNH2 | c.265G>T (p.Ala89Ser) c.88G>T (p.Ala30Ser) n.488G>T | gnomAD v4 |
7 | g.150974753C= | CA1752461972 | KCNH2 | c.265G= (p.Ala89=) c.88G= (p.Ala30=) n.488G= | |
7 | g.150974753C>G | CA369865419 | KCNH2 | c.265G>C (p.Ala89Pro) c.88G>C (p.Ala30Pro) n.488G>C | |
7 | g.150974753C>T | CA369865420 | KCNH2 | c.265G>A (p.Ala89Thr) c.88G>A (p.Ala30Thr) n.488G>A | dbSNP gnomAD v4 |
7 | g.150974754G>A | CA458871747 | KCNH2 | c.264C>T (p.Gly88=) c.87C>T (p.Gly29=) n.487C>T | |
7 | g.150974754G>C | CA458871748 | KCNH2 | c.264C>G (p.Gly88=) c.87C>G (p.Gly29=) n.487C>G | |
7 | g.150974754G>T | CA458871746 | KCNH2 | c.264C>A (p.Gly88=) c.87C>A (p.Gly29=) n.487C>A | |
7 | g.150974755C>A | CA369865421 | KCNH2 | c.263G>T (p.Gly88Val) c.86G>T (p.Gly29Val) n.486G>T | gnomAD v4 |
7 | g.150974755C>G | CA369865423 | KCNH2 | c.263G>C (p.Gly88Ala) c.86G>C (p.Gly29Ala) n.486G>C | |
7 | g.150974755C>T | CA369865425 | KCNH2 | c.263G>A (p.Gly88Asp) c.86G>A (p.Gly29Asp) n.486G>A | |
7 | g.150974756C>A | CA369865427 | KCNH2 | c.262G>T (p.Gly88Cys) c.85G>T (p.Gly29Cys) n.485G>T | |
7 | g.150974756C>G | CA369865428 | KCNH2 | c.262G>C (p.Gly88Arg) c.85G>C (p.Gly29Arg) n.485G>C | |
7 | g.150974756C>T | CA369865430 | KCNH2 | c.262G>A (p.Gly88Ser) c.85G>A (p.Gly29Ser) n.485G>A | gnomAD v4 |
7 | g.150974757C>A | CA458871757 | KCNH2 | c.261G>T (p.Leu87=) c.84G>T (p.Leu28=) n.484G>T | dbSNP gnomAD v4 |
7 | g.150974757C>G | CA072405 | KCNH2 | c.261G>C (p.Leu87=) c.84G>C (p.Leu28=) n.484G>C | |
7 | g.150974757C>T | CA458871753 | KCNH2 | c.261G>A (p.Leu87=) c.84G>A (p.Leu28=) n.484G>A | gnomAD v4 |
7 | g.150974758A= | CA1752461978 | KCNH2 | c.260T= (p.Leu87=) c.83T= (p.Leu28=) n.483T= | |
7 | g.150974758A>C | CA369865432 | KCNH2 | c.260T>G (p.Leu87Arg) c.83T>G (p.Leu28Arg) n.483T>G | |
7 | g.150974758A>G | CA007042 | KCNH2 | c.260T>C (p.Leu87Pro) c.83T>C (p.Leu28Pro) n.483T>C | ClinVar dbSNP |
7 | g.150974758A>T | CA369865434 | KCNH2 | c.260T>A (p.Leu87Gln) c.83T>A (p.Leu28Gln) n.483T>A | |
7 | g.150974759G>A | CA458871759 | KCNH2 | c.259C>T (p.Leu87=) c.82C>T (p.Leu28=) n.482C>T | gnomAD v4 |
7 | g.150974759G>C | CA369865438 | KCNH2 | c.259C>G (p.Leu87Val) c.82C>G (p.Leu28Val) n.482C>G | ClinVar |
7 | g.150974759G>T | CA369865437 | KCNH2 | c.259C>A (p.Leu87Met) c.82C>A (p.Leu28Met) n.482C>A | gnomAD v4 |
7 | g.150974760C>A | CA458871760 | KCNH2 | c.258G>T (p.Leu86=) c.81G>T (p.Leu27=) n.481G>T | ClinVar dbSNP gnomAD v4 |
7 | g.150974760C= | CA1752461985 | KCNH2 | c.258G= (p.Leu86=) c.81G= (p.Leu27=) n.481G= | |
7 | g.150974760C>G | CA458871762 | KCNH2 | c.258G>C (p.Leu86=) c.81G>C (p.Leu27=) n.481G>C | ClinVar dbSNP |
7 | g.150974760C>T | CA458871761 | KCNH2 | c.258G>A (p.Leu86=) c.81G>A (p.Leu27=) n.481G>A | ClinVar dbSNP gnomAD v4 |
7 | g.150974761A= | CA1752461988 | KCNH2 | c.257T= (p.Leu86=) c.80T= (p.Leu27=) n.480T= | |
7 | g.150974761A>C | CA006969 | KCNH2 | c.257T>G (p.Leu86Arg) c.80T>G (p.Leu27Arg) n.480T>G | ClinVar dbSNP |
7 | g.150974761A>G | CA006960 | KCNH2 | c.257T>C (p.Leu86Pro) c.80T>C (p.Leu27Pro) n.480T>C | ClinVar dbSNP |
7 | g.150974761A>T | CA369865442 | KCNH2 | c.257T>A (p.Leu86Gln) c.80T>A (p.Leu27Gln) n.480T>A | |
7 | g.150974762G>A | CA033034 | KCNH2 | c.256C>T (p.Leu86=) c.79C>T (p.Leu27=) n.479C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150974762G>C | CA369865445 | KCNH2 | c.256C>G (p.Leu86Val) c.79C>G (p.Leu27Val) n.479C>G | |
7 | g.150974762G= | CA1752461999 | KCNH2 | c.256C= (p.Leu86=) c.79C= (p.Leu27=) n.479C= | |
7 | g.150974762G>T | CA369865447 | KCNH2 | c.256C>A (p.Leu86Met) c.79C>A (p.Leu27Met) n.479C>A | |
7 | g.150974763T>A | CA458871772 | KCNH2 | c.255A>T (p.Ala85=) c.78A>T (p.Ala26=) n.478A>T | |
7 | g.150974763T>C | CA458871774 | KCNH2 | c.255A>G (p.Ala85=) c.78A>G (p.Ala26=) n.478A>G | |
7 | g.150974763T>G | CA458871777 | KCNH2 | c.255A>C (p.Ala85=) c.78A>C (p.Ala26=) n.478A>C | ClinVar dbSNP |
7 | g.150974763T= | CA1752462002 | KCNH2 | c.255A= (p.Ala85=) c.78A= (p.Ala26=) n.478A= | |
7 | g.150974764G>A | CA006934 | KCNH2 | c.254C>T (p.Ala85Val) c.77C>T (p.Ala26Val) n.477C>T | ClinVar dbSNP |
7 | g.150974764G>C | CA369865448 | KCNH2 | c.254C>G (p.Ala85Gly) c.77C>G (p.Ala26Gly) n.477C>G | |
7 | g.150974764G= | CA1752462010 | KCNH2 | c.254C= (p.Ala85=) c.77C= (p.Ala26=) n.477C= | |
7 | g.150974764G>T | CA369865450 | KCNH2 | c.254C>A (p.Ala85Glu) c.77C>A (p.Ala26Glu) n.477C>A | |
7 | g.150974765C>A | CA369865451 | KCNH2 | c.253G>T (p.Ala85Ser) c.76G>T (p.Ala26Ser) n.476G>T | gnomAD v4 |
7 | g.150974765C= | CA1752462023 | KCNH2 | c.253G= (p.Ala85=) c.76G= (p.Ala26=) n.476G= | |
7 | g.150974765C>G | CA006926 | KCNH2 | c.253G>C (p.Ala85Pro) c.76G>C (p.Ala26Pro) n.476G>C | ClinVar dbSNP gnomAD v4 |
7 | g.150974765C>T | CA369865453 | KCNH2 | c.253G>A (p.Ala85Thr) c.76G>A (p.Ala26Thr) n.476G>A | ClinVar dbSNP gnomAD v4 |
7 | g.150974766C>A | CA369865459 | KCNH2 | c.252G>T (p.Gln84His) c.75G>T (p.Gln25His) n.475G>T | gnomAD v4 |
7 | g.150974766C= | CA1752462034 | KCNH2 | c.252G= (p.Gln84=) c.75G= (p.Gln25=) n.475G= | |
7 | g.150974766C>G | CA369865463 | KCNH2 | c.252G>C (p.Gln84His) c.75G>C (p.Gln25His) n.475G>C | |
7 | g.150974766C>T | CA032982 | KCNH2 | c.252G>A (p.Gln84=) c.75G>A (p.Gln25=) n.475G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150974773_150974781dup | CA305342 | KCNH2 | c.244_252dup (p.Gln84_Ala85insIleAlaGln) c.67_75dup (p.Gln25_Ala26insIleAlaGln) n.467_475dup | ClinVar dbSNP |
7 | g.150974773_150974781del | CA658761345 | KCNH2 | c.244_252del (p.Ile82_Gln84del) c.67_75del (p.Ile23_Gln25del) n.467_475del | |
7 | g.150974766_150974797delinsCTGCGCGATCTGCGCGGCAGCGCGGCGCTGCG | CA1752462036 | KCNH2 | c.221_252delinsCGCAGCGCCGCGCTGCCGCGCAGATCGCGCAG (p.Thr74=) c.44_75delinsCGCAGCGCCGCGCTGCCGCGCAGATCGCGCAG (p.Thr15=) n.444_475delinsCGCAGCGCCGCGCTGCCGCGCAGATCGCGCAG | |
7 | g.150974767T>A | CA369865464 | KCNH2 | c.251A>T (p.Gln84Leu) c.74A>T (p.Gln25Leu) n.474A>T | gnomAD v4 |
7 | g.150974767T>C | CA369865466 | KCNH2 | c.251A>G (p.Gln84Arg) c.74A>G (p.Gln25Arg) n.474A>G | ClinVar dbSNP gnomAD v4 |
7 | g.150974767T>G | CA369865468 | KCNH2 | c.251A>C (p.Gln84Pro) c.74A>C (p.Gln25Pro) n.474A>C | |
7 | g.150974767_150974786delinsTGCGCGATCTGCGCGGCAGC | CA1752462046 | KCNH2 | c.232_251delinsGCTGCCGCGCAGATCGCGCA (p.Ala78=) c.55_74delinsGCTGCCGCGCAGATCGCGCA (p.Ala19=) n.455_474delinsGCTGCCGCGCAGATCGCGCA | |
7 | g.150974773_150974803del | CA658761346 | KCNH2 | c.221_251del (p.Thr74ArgfsTer?) c.44_74del (p.Thr15ArgfsTer?) n.444_474del | ClinVar dbSNP |
7 | g.150974768G>A | CA369865469 | KCNH2 | c.250C>T (p.Gln84Ter) c.73C>T (p.Gln25Ter) n.473C>T | ClinVar gnomAD v4 |
7 | g.150974768G>C | CA369865471 | KCNH2 | c.250C>G (p.Gln84Glu) c.73C>G (p.Gln25Glu) n.473C>G | |
7 | g.150974768G>T | CA369865472 | KCNH2 | c.250C>A (p.Gln84Lys) c.73C>A (p.Gln25Lys) n.473C>A | gnomAD v4 |
7 | g.150974773_150974789dup | CA915945557 | KCNH2 | c.234_250dup (p.Gln84LeufsTer?) c.57_73dup (p.Gln25LeufsTer?) n.457_473dup | ClinVar dbSNP |
7 | g.150974771_150974789del | CA915945558 | KCNH2 | c.232_250del (p.Ala78ArgfsTer?) c.55_73del (p.Ala19ArgfsTer?) n.455_473del | ClinVar dbSNP |
7 | g.150974769C>A | CA458871795 | KCNH2 | c.249G>T (p.Ala83=) c.72G>T (p.Ala24=) n.472G>T | ClinVar dbSNP |
7 | g.150974769C= | CA1752462068 | KCNH2 | c.249G= (p.Ala83=) c.72G= (p.Ala24=) n.472G= | |
7 | g.150974769C>G | CA458871794 | KCNH2 | c.249G>C (p.Ala83=) c.72G>C (p.Ala24=) n.472G>C | gnomAD v4 |
7 | g.150974769C>T | CA169090296 | KCNH2 | c.249G>A (p.Ala83=) c.72G>A (p.Ala24=) n.472G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150974770G>A | CA369865475 | KCNH2 | c.248C>T (p.Ala83Val) c.71C>T (p.Ala24Val) n.471C>T | gnomAD v4 |
7 | g.150974770G>C | CA369865478 | KCNH2 | c.248C>G (p.Ala83Gly) c.71C>G (p.Ala24Gly) n.471C>G | |
7 | g.150974770G>T | CA369865476 | KCNH2 | c.248C>A (p.Ala83Glu) c.71C>A (p.Ala24Glu) n.471C>A | gnomAD v4 |
7 | g.150974771C>A | CA369865479 | KCNH2 | c.247G>T (p.Ala83Ser) c.70G>T (p.Ala24Ser) n.470G>T | ClinVar dbSNP gnomAD v4 |
7 | g.150974771C= | CA1752462074 | KCNH2 | c.247G= (p.Ala83=) c.70G= (p.Ala24=) n.470G= | |
7 | g.150974771C>G | CA006832 | KCNH2 | c.247G>C (p.Ala83Pro) c.70G>C (p.Ala24Pro) n.470G>C | dbSNP |
7 | g.150974771C>T | CA369865482 | KCNH2 | c.247G>A (p.Ala83Thr) c.70G>A (p.Ala24Thr) n.470G>A | ClinVar gnomAD v4 COSMIC COSMIC |
7 | g.150974772G>A | CA458871805 | KCNH2 | c.246C>T (p.Ile82=) c.69C>T (p.Ile23=) n.469C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.150974772G>C | CA169090305 | KCNH2 | c.246C>G (p.Ile82Met) c.69C>G (p.Ile23Met) n.469C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.150974772G= | CA1752462089 | KCNH2 | c.246C= (p.Ile82=) c.69C= (p.Ile23=) n.469C= | |
7 | g.150974772G>T | CA458871807 | KCNH2 | c.246C>A (p.Ile82=) c.69C>A (p.Ile23=) n.469C>A | |
7 | g.150974773A= | CA1752462099 | KCNH2 | c.245T= (p.Ile82=) c.68T= (p.Ile23=) n.468T= | |
7 | g.150974773A>C | CA369865487 | KCNH2 | c.245T>G (p.Ile82Ser) c.68T>G (p.Ile23Ser) n.468T>G | |
7 | g.150974773A>G | CA369865484 | KCNH2 | c.245T>C (p.Ile82Thr) c.68T>C (p.Ile23Thr) n.468T>C | ClinVar dbSNP gnomAD v4 |
7 | g.150974773A>T | CA369865486 | KCNH2 | c.245T>A (p.Ile82Asn) c.68T>A (p.Ile23Asn) n.468T>A | |
7 | g.150974774T>A | CA369865489 | KCNH2 | c.244A>T (p.Ile82Phe) c.67A>T (p.Ile23Phe) n.467A>T | |
7 | g.150974774T>C | CA369865491 | KCNH2 | c.244A>G (p.Ile82Val) c.67A>G (p.Ile23Val) n.467A>G | |
7 | g.150974774T>G | CA369865492 | KCNH2 | c.244A>C (p.Ile82Leu) c.67A>C (p.Ile23Leu) n.467A>C | |
7 | g.150974775C>A | CA369865493 | KCNH2 | c.243G>T (p.Gln81His) c.66G>T (p.Gln22His) n.466G>T | dbSNP |
7 | g.150974775C= | CA1752462107 | KCNH2 | c.243G= (p.Gln81=) c.66G= (p.Gln22=) n.466G= | |
7 | g.150974775C>G | CA006746 | KCNH2 | c.243G>C (p.Gln81His) c.66G>C (p.Gln22His) n.466G>C | ClinVar dbSNP gnomAD v4 |
7 | g.150974775C>T | CA032737 | KCNH2 | c.243G>A (p.Gln81=) c.66G>A (p.Gln22=) n.466G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150974776_150974783del | CA2695208658 | KCNH2 | c.236_243del (p.Ala79AspfsTer?) c.59_66del (p.Ala20AspfsTer?) n.459_466del | |
7 | g.150974775_150974797delinsCTGCGCGGCAGCGCGGCGCTGCG | CA1752462112 | KCNH2 | c.221_243delinsCGCAGCGCCGCGCTGCCGCGCAG (p.Thr74=) c.44_66delinsCGCAGCGCCGCGCTGCCGCGCAG (p.Thr15=) n.444_466delinsCGCAGCGCCGCGCTGCCGCGCAG | |
7 | g.150974776T>A | CA369865496 | KCNH2 | c.242A>T (p.Gln81Leu) c.65A>T (p.Gln22Leu) n.465A>T | |
7 | g.150974776T>C | CA369865498 | KCNH2 | c.242A>G (p.Gln81Arg) c.65A>G (p.Gln22Arg) n.465A>G | ClinVar |
7 | g.150974776T>G | CA369865499 | KCNH2 | c.242A>C (p.Gln81Pro) c.65A>C (p.Gln22Pro) n.465A>C | |
7 | g.150974776_150974784delinsTGCGCGGCA | CA1752462117 | KCNH2 | c.234_242delinsTGCCGCGCA (p.Ala78=) c.57_65delinsTGCCGCGCA (p.Ala19=) n.457_465delinsTGCCGCGCA | |
7 | g.150974784_150974805del | CA835213821 | KCNH2 | c.221_242del (p.Thr74ArgfsTer?) c.44_65del (p.Thr15ArgfsTer?) n.444_465del | ClinVar dbSNP |
7 | g.150974777G>A | CA072418 | KCNH2 | c.241C>T (p.Gln81Ter) c.64C>T (p.Gln22Ter) n.464C>T | |
7 | g.150974777G>C | CA032701 | KCNH2 | c.241C>G (p.Gln81Glu) c.64C>G (p.Gln22Glu) n.464C>G | ClinVar dbSNP ExAC gnomAD v2 |
7 | g.150974777G= | CA1752462120 | KCNH2 | c.241C= (p.Gln81=) c.64C= (p.Gln22=) n.464C= | |
7 | g.150974777G>T | CA369865503 | KCNH2 | c.241C>A (p.Gln81Lys) c.64C>A (p.Gln22Lys) n.464C>A | |
7 | g.150974784_150974791dup | CA2695208660 | KCNH2 | c.234_241dup (p.Gln81LeufsTer?) c.57_64dup (p.Gln22LeufsTer?) n.457_464dup | |
7 | g.150974784_150974791del | CA10587645 | KCNH2 | c.234_241del (p.Ala79AspfsTer?) c.57_64del (p.Ala20AspfsTer?) n.457_464del | ClinVar dbSNP gnomAD v4 |
7 | g.150974778C>A | CA458871820 | KCNH2 | c.240G>T (p.Ala80=) c.63G>T (p.Ala21=) n.463G>T | ClinVar dbSNP |
7 | g.150974778C= | CA1752462128 | KCNH2 | c.240G= (p.Ala80=) c.63G= (p.Ala21=) n.463G= | |
7 | g.150974778C>G | CA458871821 | KCNH2 | c.240G>C (p.Ala80=) c.63G>C (p.Ala21=) n.463G>C | gnomAD v4 |
7 | g.150974778C>T | CA458871824 | KCNH2 | c.240G>A (p.Ala80=) c.63G>A (p.Ala21=) n.463G>A | ClinVar dbSNP gnomAD v4 |
7 | g.150974779G>A | CA006696 | KCNH2 | c.239C>T (p.Ala80Val) c.62C>T (p.Ala21Val) n.462C>T | ClinVar dbSNP gnomAD v4 |
7 | g.150974779G>C | CA369865505 | KCNH2 | c.239C>G (p.Ala80Gly) c.62C>G (p.Ala21Gly) n.462C>G | ClinVar |
7 | g.150974779G= | CA1752462133 | KCNH2 | c.239C= (p.Ala80=) c.62C= (p.Ala21=) n.462C= | |
7 | g.150974779G>T | CA369865507 | KCNH2 | c.239C>A (p.Ala80Glu) c.62C>A (p.Ala21Glu) n.462C>A | |
7 | g.150974780C>A | CA369865509 | KCNH2 | c.238G>T (p.Ala80Ser) c.61G>T (p.Ala21Ser) n.461G>T | ClinVar gnomAD v4 |
7 | g.150974780C= | CA1752462144 | KCNH2 | c.238G= (p.Ala80=) c.61G= (p.Ala21=) n.461G= | |
7 | g.150974780C>G | CA006562 | KCNH2 | c.238G>C (p.Ala80Pro) c.61G>C (p.Ala21Pro) n.461G>C | ClinVar dbSNP |
7 | g.150974780C>T | CA369865511 | KCNH2 | c.238G>A (p.Ala80Thr) c.61G>A (p.Ala21Thr) n.461G>A | ClinVar dbSNP gnomAD v4 |
7 | g.150974781G>A | CA072422 | KCNH2 | c.237C>T (p.Ala79=) c.60C>T (p.Ala20=) n.460C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150974781G>C | CA16612128 | KCNH2 | c.237C>G (p.Ala79=) c.60C>G (p.Ala20=) n.460C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.150974781G= | CA1752462152 | KCNH2 | c.237C= (p.Ala79=) c.60C= (p.Ala20=) n.460C= | |
7 | g.150974781G>T | CA072287 | KCNH2 | c.237C>A (p.Ala79=) c.60C>A (p.Ala20=) n.460C>A | ClinVar dbSNP |
7 | g.150974782_150974814del | CA2695208662 | KCNH2 | c.205_237del (p.Leu69_Ala79del) c.28_60del (p.Leu10_Ala20del) n.428_460del | |
7 | g.150974782G>A | CA369865514 | KCNH2 | c.236C>T (p.Ala79Val) c.59C>T (p.Ala20Val) n.459C>T | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150974782G>C | CA369865515 | KCNH2 | c.236C>G (p.Ala79Gly) c.59C>G (p.Ala20Gly) n.459C>G | |
7 | g.150974782G= | CA1752462156 | KCNH2 | c.236C= (p.Ala79=) c.59C= (p.Ala20=) n.459C= | |
7 | g.150974782G>T | CA369865517 | KCNH2 | c.236C>A (p.Ala79Asp) c.59C>A (p.Ala20Asp) n.459C>A | gnomAD v4 |
7 | g.150974783C>A | CA369865523 | KCNH2 | c.235G>T (p.Ala79Ser) c.58G>T (p.Ala20Ser) n.458G>T | ClinVar dbSNP |
7 | g.150974783C= | CA1752462167 | KCNH2 | c.235G= (p.Ala79=) c.58G= (p.Ala20=) n.458G= | |
7 | g.150974783C>G | CA006486 | KCNH2 | c.235G>C (p.Ala79Pro) c.58G>C (p.Ala20Pro) n.458G>C | ClinVar dbSNP |
7 | g.150974783C>T | CA369865519 | KCNH2 | c.235G>A (p.Ala79Thr) c.58G>A (p.Ala20Thr) n.458G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.150974784A>C | CA458871838 | KCNH2 | c.234T>G (p.Ala78=) c.57T>G (p.Ala19=) n.457T>G | ClinVar |
7 | g.150974784A>G | CA458871840 | KCNH2 | c.234T>C (p.Ala78=) c.57T>C (p.Ala19=) n.457T>C | |
7 | g.150974784A>T | CA458871841 | KCNH2 | c.234T>A (p.Ala78=) c.57T>A (p.Ala19=) n.457T>A | |
7 | g.150974785G>A | CA369865525 | KCNH2 | c.233C>T (p.Ala78Val) c.56C>T (p.Ala19Val) n.456C>T | ClinVar dbSNP gnomAD v4 |
7 | g.150974785G>C | CA369865527 | KCNH2 | c.233C>G (p.Ala78Gly) c.56C>G (p.Ala19Gly) n.456C>G | |
7 | g.150974785G= | CA1752462184 | KCNH2 | c.233C= (p.Ala78=) c.56C= (p.Ala19=) n.456C= | |
7 | g.150974785G>T | CA369865529 | KCNH2 | c.233C>A (p.Ala78Asp) c.56C>A (p.Ala19Asp) n.456C>A | gnomAD v4 |
7 | g.150974792_150974805del | CA2573141816 | KCNH2 | c.220_233del (p.Thr74CysfsTer?) c.43_56del (p.Thr15CysfsTer?) n.443_456del | ClinVar dbSNP |
7 | g.150974786C>A | CA369865531 | KCNH2 | c.232G>T (p.Ala78Ser) c.55G>T (p.Ala19Ser) n.455G>T | |
7 | g.150974786C= | CA1752462189 | KCNH2 | c.232G= (p.Ala78=) c.55G= (p.Ala19=) n.455G= | |
7 | g.150974786C>G | CA006454 | KCNH2 | c.232G>C (p.Ala78Pro) c.55G>C (p.Ala19Pro) n.455G>C | ClinVar dbSNP |
7 | g.150974786C>T | CA369865533 | KCNH2 | c.232G>A (p.Ala78Thr) c.55G>A (p.Ala19Thr) n.455G>A | ClinVar dbSNP gnomAD v4 |
7 | g.150974787G>A | CA458871851 | KCNH2 | c.231C>T (p.Arg77=) c.54C>T (p.Arg18=) n.454C>T | |
7 | g.150974787G>C | CA072240 | KCNH2 | c.231C>G (p.Arg77=) c.54C>G (p.Arg18=) n.454C>G | |
7 | g.150974787G>T | CA458871855 | KCNH2 | c.231C>A (p.Arg77=) c.54C>A (p.Arg18=) n.454C>A | |
7 | g.150974788C>A | CA369865535 | KCNH2 | c.230G>T (p.Arg77Leu) c.53G>T (p.Arg18Leu) n.453G>T | gnomAD v4 |
7 | g.150974788C>G | CA369865539 | KCNH2 | c.230G>C (p.Arg77Pro) c.53G>C (p.Arg18Pro) n.453G>C | |
7 | g.150974788C>T | CA369865537 | KCNH2 | c.230G>A (p.Arg77His) c.53G>A (p.Arg18His) n.453G>A | gnomAD v4 COSMIC COSMIC |
7 | g.150974788_150974789delinsA | CA2580077680 | KCNH2 | c.229_230delinsT (p.Arg77SerfsTer?) c.52_53delinsT (p.Arg18SerfsTer?) n.452_453delinsT | ClinVar |
7 | g.150974789G>A | CA369865541 | KCNH2 | c.229C>T (p.Arg77Cys) c.52C>T (p.Arg18Cys) n.452C>T | gnomAD v4 |
7 | g.150974789G>C | CA369865542 | KCNH2 | c.229C>G (p.Arg77Gly) c.52C>G (p.Arg18Gly) n.452C>G | gnomAD v4 |
7 | g.150974789G= | CA1752462195 | KCNH2 | c.229C= (p.Arg77=) c.52C= (p.Arg18=) n.452C= | |
7 | g.150974789G>T | CA031559 | KCNH2 | c.229C>A (p.Arg77Ser) c.52C>A (p.Arg18Ser) n.452C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150974790G>A | CA031505 | KCNH2 | c.228C>T (p.Arg76=) c.51C>T (p.Arg17=) n.451C>T | dbSNP ExAC |
7 | g.150974790G>C | CA072221 | KCNH2 | c.228C>G (p.Arg76=) c.51C>G (p.Arg17=) n.451C>G | |
7 | g.150974790G= | CA1752462199 | KCNH2 | c.228C= (p.Arg76=) c.51C= (p.Arg17=) n.451C= | |
7 | g.150974790G>T | CA458871862 | KCNH2 | c.228C>A (p.Arg76=) c.51C>A (p.Arg17=) n.451C>A | gnomAD v4 |
7 | g.150974791C>A | CA169090320 | KCNH2 | c.227G>T (p.Arg76Leu) c.50G>T (p.Arg17Leu) n.450G>T | ClinVar dbSNP gnomAD v4 |
7 | g.150974791C= | CA1752462205 | KCNH2 | c.227G= (p.Arg76=) c.50G= (p.Arg17=) n.450G= | |
7 | g.150974791C>G | CA369865544 | KCNH2 | c.227G>C (p.Arg76Pro) c.50G>C (p.Arg17Pro) n.450G>C | |
7 | g.150974791C>T | CA369865546 | KCNH2 | c.227G>A (p.Arg76His) c.50G>A (p.Arg17His) n.450G>A | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150974792G>A | CA369865547 | KCNH2 | c.226C>T (p.Arg76Cys) c.49C>T (p.Arg17Cys) n.449C>T | gnomAD v4 |
7 | g.150974792G>C | CA369865549 | KCNH2 | c.226C>G (p.Arg76Gly) c.49C>G (p.Arg17Gly) n.449C>G | |
7 | g.150974792G>T | CA369865551 | KCNH2 | c.226C>A (p.Arg76Ser) c.49C>A (p.Arg17Ser) n.449C>A | |
7 | g.150974792_150974799delinsA | CA2695208664 | KCNH2 | c.219_226delinsT (p.Thr74AlafsTer?) c.42_49delinsT (p.Thr15AlafsTer?) n.442_449delinsT | |
7 | g.150974793C>A | CA369865553 | KCNH2 | c.225G>T (p.Gln75His) c.48G>T (p.Gln16His) n.448G>T | gnomAD v4 |
7 | g.150974793C= | CA1752462206 | KCNH2 | c.225G= (p.Gln75=) c.48G= (p.Gln16=) n.448G= | |
7 | g.150974793C>G | CA369865554 | KCNH2 | c.225G>C (p.Gln75His) c.48G>C (p.Gln16His) n.448G>C | dbSNP |
7 | g.150974793C>T | CA458871875 | KCNH2 | c.225G>A (p.Gln75=) c.48G>A (p.Gln16=) n.448G>A | ClinVar dbSNP gnomAD v4 |
7 | g.150974794T>A | CA369865556 | KCNH2 | c.224A>T (p.Gln75Leu) c.47A>T (p.Gln16Leu) n.447A>T | |
7 | g.150974794T>C | CA369865559 | KCNH2 | c.224A>G (p.Gln75Arg) c.47A>G (p.Gln16Arg) n.447A>G | gnomAD v4 |
7 | g.150974794T>G | CA369865557 | KCNH2 | c.224A>C (p.Gln75Pro) c.47A>C (p.Gln16Pro) n.447A>C | |
7 | g.150974795G>A | CA369865561 | KCNH2 | c.223C>T (p.Gln75Ter) c.46C>T (p.Gln16Ter) n.446C>T | |
7 | g.150974795G>C | CA369865564 | KCNH2 | c.223C>G (p.Gln75Glu) c.46C>G (p.Gln16Glu) n.446C>G | ClinVar dbSNP |
7 | g.150974795G= | CA1752462208 | KCNH2 | c.223C= (p.Gln75=) c.46C= (p.Gln16=) n.446C= | |
7 | g.150974795G>T | CA369865563 | KCNH2 | c.223C>A (p.Gln75Lys) c.46C>A (p.Gln16Lys) n.446C>A | |
7 | g.150974796C>A | CA458871877 | KCNH2 | c.222G>T (p.Thr74=) c.45G>T (p.Thr15=) n.445G>T | dbSNP gnomAD v4 |
7 | g.150974796C= | CA1752462211 | KCNH2 | c.222G= (p.Thr74=) c.45G= (p.Thr15=) n.445G= | |
7 | g.150974796C>G | CA458871880 | KCNH2 | c.222G>C (p.Thr74=) c.45G>C (p.Thr15=) n.445G>C | ClinVar |
7 | g.150974796C>T | CA072424 | KCNH2 | c.222G>A (p.Thr74=) c.45G>A (p.Thr15=) n.445G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.150974797G>A | CA006365 | KCNH2 | c.221C>T (p.Thr74Met) c.44C>T (p.Thr15Met) n.444C>T | ClinVar dbSNP |
7 | g.150974797G>C | CA006358 | KCNH2 | c.221C>G (p.Thr74Arg) c.44C>G (p.Thr15Arg) n.444C>G | ClinVar dbSNP |
7 | g.150974797G= | CA1752462227 | KCNH2 | c.221C= (p.Thr74=) c.44C= (p.Thr15=) n.444C= | |
7 | g.150974797G>T | CA369865567 | KCNH2 | c.221C>A (p.Thr74Lys) c.44C>A (p.Thr15Lys) n.444C>A | |
7 | g.150974798T>A | CA369865570 | KCNH2 | c.220A>T (p.Thr74Ser) c.43A>T (p.Thr15Ser) n.443A>T | |
7 | g.150974798T>C | CA369865572 | KCNH2 | c.220A>G (p.Thr74Ala) c.43A>G (p.Thr15Ala) n.443A>G | ClinVar dbSNP |
7 | g.150974798T>G | CA006352 | KCNH2 | c.220A>C (p.Thr74Pro) c.43A>C (p.Thr15Pro) n.443A>C | ClinVar dbSNP |
7 | g.150974798T= | CA1752462239 | KCNH2 | c.220A= (p.Thr74=) c.43A= (p.Thr15=) n.443A= | |
7 | g.150974799G>A | CA458871888 | KCNH2 | c.219C>T (p.Arg73=) c.42C>T (p.Arg14=) n.442C>T | |
7 | g.150974799G>C | CA072429 | KCNH2 | c.219C>G (p.Arg73=) c.42C>G (p.Arg14=) n.442C>G | |
7 | g.150974799G= | CA1752462253 | KCNH2 | c.219C= (p.Arg73=) c.42C= (p.Arg14=) n.442C= | |
7 | g.150974799G>T | CA031279 | KCNH2 | c.219C>A (p.Arg73=) c.42C>A (p.Arg14=) n.442C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150974800C>A | CA369865575 | KCNH2 | c.218G>T (p.Arg73Leu) c.41G>T (p.Arg14Leu) n.441G>T | |
7 | g.150974800C= | CA1752462256 | KCNH2 | c.218G= (p.Arg73=) c.41G= (p.Arg14=) n.441G= | |
7 | g.150974800C>G | CA369865577 | KCNH2 | c.218G>C (p.Arg73Pro) c.41G>C (p.Arg14Pro) n.441G>C | gnomAD v4 |
7 | g.150974800C>T | CA369865579 | KCNH2 | c.218G>A (p.Arg73His) c.41G>A (p.Arg14His) n.441G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150974801G>A | CA031237 | KCNH2 | c.217C>T (p.Arg73Cys) c.40C>T (p.Arg14Cys) n.440C>T | dbSNP ExAC gnomAD v2 |
7 | g.150974801G>C | CA369865581 | KCNH2 | c.217C>G (p.Arg73Gly) c.40C>G (p.Arg14Gly) n.440C>G | |
7 | g.150974801G= | CA1752462259 | KCNH2 | c.217C= (p.Arg73=) c.40C= (p.Arg14=) n.440C= | |
7 | g.150974801G>T | CA369865583 | KCNH2 | c.217C>A (p.Arg73Ser) c.40C>A (p.Arg14Ser) n.440C>A | |
7 | g.150974802C>A | CA458871895 | KCNH2 | c.216G>T (p.Pro72=) c.39G>T (p.Pro13=) n.439G>T | |
7 | g.150974802C= | CA1752462263 | KCNH2 | c.216G= (p.Pro72=) c.39G= (p.Pro13=) n.439G= | |
7 | g.150974802C>G | CA458871896 | KCNH2 | c.216G>C (p.Pro72=) c.39G>C (p.Pro13=) n.439G>C | |
7 | g.150974802C>T | CA458871897 | KCNH2 | c.216G>A (p.Pro72=) c.39G>A (p.Pro13=) n.439G>A | dbSNP gnomAD v4 |
7 | g.150974803G>A | CA006305 | KCNH2 | c.215C>T (p.Pro72Leu) c.38C>T (p.Pro13Leu) n.438C>T | ClinVar dbSNP gnomAD v4 |
7 | g.150974803G>C | CA006299 | KCNH2 | c.215C>G (p.Pro72Arg) c.38C>G (p.Pro13Arg) n.438C>G | ClinVar dbSNP |
7 | g.150974803G= | CA1752462274 | KCNH2 | c.215C= (p.Pro72=) c.38C= (p.Pro13=) n.438C= | |
7 | g.150974803G>T | CA006293 | KCNH2 | c.215C>A (p.Pro72Gln) c.38C>A (p.Pro13Gln) n.438C>A | ClinVar dbSNP |
7 | g.150974803_150974804delinsCC | CA2695208667 | KCNH2 | c.214_215delinsGG (p.Pro72Gly) c.37_38delinsGG (p.Pro13Gly) n.437_438delinsGG | |
7 | g.150974804G>A | CA006286 | KCNH2 | c.214C>T (p.Pro72Ser) c.37C>T (p.Pro13Ser) n.437C>T | ClinVar dbSNP |
7 | g.150974804G>C | CA369865587 | KCNH2 | c.214C>G (p.Pro72Ala) c.37C>G (p.Pro13Ala) n.437C>G | |
7 | g.150974804G= | CA1752462291 | KCNH2 | c.214C= (p.Pro72=) c.37C= (p.Pro13=) n.437C= | |
7 | g.150974804G>T | CA369865588 | KCNH2 | c.214C>A (p.Pro72Thr) c.37C>A (p.Pro13Thr) n.437C>A | gnomAD v4 |
7 | g.150974805C>A | CA030768 | KCNH2 | c.213G>T (p.Gly71=) c.36G>T (p.Gly12=) n.436G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.150974805C= | CA1752462296 | KCNH2 | c.213G= (p.Gly71=) c.36G= (p.Gly12=) n.436G= | |
7 | g.150974805C>G | CA458871905 | KCNH2 | c.213G>C (p.Gly71=) c.36G>C (p.Gly12=) n.436G>C | |
7 | g.150974805C>T | CA458871906 | KCNH2 | c.213G>A (p.Gly71=) c.36G>A (p.Gly12=) n.436G>A | |
7 | g.150974806C>A | CA369865591 | KCNH2 | c.212G>T (p.Gly71Val) c.35G>T (p.Gly12Val) n.435G>T | |
7 | g.150974806C= | CA1752462302 | KCNH2 | c.212G= (p.Gly71=) c.35G= (p.Gly12=) n.435G= | |
7 | g.150974806C>G | CA369865592 | KCNH2 | c.212G>C (p.Gly71Ala) c.35G>C (p.Gly12Ala) n.435G>C | |
7 | g.150974806C>T | CA10587642 | KCNH2 | c.212G>A (p.Gly71Glu) c.35G>A (p.Gly12Glu) n.435G>A | ClinVar dbSNP gnomAD v2 |
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 | |
7 | g.150974819C>T | CA369865644 | KCNH2 | c.199G>A (p.Asp67Asn) c.22G>A (p.Asp8Asn) n.422G>A | |
7 | g.150974820G>A | CA458871951 | KCNH2 | c.198C>T (p.Cys66=) c.21C>T (p.Cys7=) n.421C>T | gnomAD v4 |
7 | g.150974820G>C | CA369865645 | KCNH2 | c.198C>G (p.Cys66Trp) c.21C>G (p.Cys7Trp) n.421C>G | |
7 | g.150974820G= | CA1752440855 | KCNH2 | c.198C= (p.Cys66=) c.21C= (p.Cys7=) n.421C= | |
7 | g.150974820G>T | CA369865646 | KCNH2 | c.198C>A (p.Cys66Ter) c.21C>A (p.Cys7Ter) n.421C>A | ClinVar dbSNP |
7 | g.150974821C>A | CA369865649 | KCNH2 | c.197G>T (p.Cys66Phe) c.20G>T (p.Cys7Phe) n.420G>T | |
7 | g.150974821C= | CA1752440858 | KCNH2 | c.197G= (p.Cys66=) c.20G= (p.Cys7=) n.420G= | |
7 | g.150974821C>G | CA369865647 | KCNH2 | c.197G>C (p.Cys66Ser) c.20G>C (p.Cys7Ser) n.420G>C | |
7 | g.150974821C>T | CA369865648 | KCNH2 | c.197G>A (p.Cys66Tyr) c.20G>A (p.Cys7Tyr) n.420G>A | ClinVar dbSNP |
7 | g.150974822A= | CA1752440863 | KCNH2 | c.196T= (p.Cys66=) c.19T= (p.Cys7=) n.419T= | |
7 | g.150974822A>C | CA006132 | KCNH2 | c.196T>G (p.Cys66Gly) c.19T>G (p.Cys7Gly) n.419T>G | ClinVar dbSNP |
7 | g.150974822A>G | CA369865654 | KCNH2 | c.196T>C (p.Cys66Arg) c.19T>C (p.Cys7Arg) n.419T>C | ClinVar dbSNP |
7 | g.150974822A>T | CA369865652 | KCNH2 | c.196T>A (p.Cys66Ser) c.19T>A (p.Cys7Ser) n.419T>A | |
7 | g.150974823G>A | CA458871962 | KCNH2 | c.195C>T (p.Thr65=) c.18C>T (p.Thr6=) n.418C>T | ClinVar dbSNP |
7 | g.150974823G>C | CA458871963 | KCNH2 | c.195C>G (p.Thr65=) c.18C>G (p.Thr6=) n.418C>G | |
7 | g.150974823G>T | CA458871968 | KCNH2 | c.195C>A (p.Thr65=) c.18C>A (p.Thr6=) n.418C>A | |
7 | g.150974824G>A | CA369865656 | KCNH2 | c.194C>T (p.Thr65Ile) c.17C>T (p.Thr6Ile) n.417C>T | |
7 | g.150974824G>C | CA10582468 | KCNH2 | c.194C>G (p.Thr65Ser) c.17C>G (p.Thr6Ser) n.417C>G | ClinVar dbSNP gnomAD v4 |
7 | g.150974824G= | CA1752440879 | KCNH2 | c.194C= (p.Thr65=) c.17C= (p.Thr6=) n.417C= | |
7 | g.150974824G>T | CA369865658 | KCNH2 | c.194C>A (p.Thr65Asn) c.17C>A (p.Thr6Asn) n.417C>A | |
7 | g.150974825T>A | CA369865660 | KCNH2 | c.193A>T (p.Thr65Ser) c.16A>T (p.Thr6Ser) n.416A>T | |
7 | g.150974825T>C | CA369865663 | KCNH2 | c.193A>G (p.Thr65Ala) c.16A>G (p.Thr6Ala) n.416A>G | dbSNP |
7 | g.150974825T>G | CA006061 | KCNH2 | c.193A>C (p.Thr65Pro) c.16A>C (p.Thr6Pro) n.416A>C | ClinVar dbSNP |
7 | g.150974825T= | CA1752440883 | KCNH2 | c.193A= (p.Thr65=) c.16A= (p.Thr6=) n.416A= | |
7 | g.150974826G>A | CA458871972 | KCNH2 | c.192C>T (p.Cys64=) c.15C>T (p.Cys5=) n.415C>T | |
7 | g.150974826G>C | CA006038 | KCNH2 | c.192C>G (p.Cys64Trp) c.15C>G (p.Cys5Trp) n.415C>G | ClinVar dbSNP |
7 | g.150974826G= | CA1752440909 | KCNH2 | c.192C= (p.Cys64=) c.15C= (p.Cys5=) n.415C= | |
7 | g.150974826G>T | CA369865666 | KCNH2 | c.192C>A (p.Cys64Ter) c.15C>A (p.Cys5Ter) n.415C>A | |
7 | g.150974827C>A | CA369865668 | KCNH2 | c.191G>T (p.Cys64Phe) c.14G>T (p.Cys5Phe) n.414G>T | |
7 | g.150974827C= | CA1752440913 | KCNH2 | c.191G= (p.Cys64=) c.14G= (p.Cys5=) n.414G= | |
7 | g.150974827C>G | CA369865670 | KCNH2 | c.191G>C (p.Cys64Ser) c.14G>C (p.Cys5Ser) n.414G>C | |
7 | g.150974827C>T | CA006024 | KCNH2 | c.191G>A (p.Cys64Tyr) c.14G>A (p.Cys5Tyr) n.414G>A | ClinVar dbSNP |
7 | g.150974828A>C | CA369865673 | KCNH2 | c.190T>G (p.Cys64Gly) c.13T>G (p.Cys5Gly) n.413T>G | |
7 | g.150974828A>G | CA369865676 | KCNH2 | c.190T>C (p.Cys64Arg) c.13T>C (p.Cys5Arg) n.413T>C | |
7 | g.150974828A>T | CA369865674 | KCNH2 | c.190T>A (p.Cys64Ser) c.13T>A (p.Cys5Ser) n.413T>A | |
7 | g.150974829G>A | CA029708 | KCNH2 | c.189C>T (p.Pro63=) c.12C>T (p.Pro4=) n.412C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150974829G>C | CA458871988 | KCNH2 | c.189C>G (p.Pro63=) c.12C>G (p.Pro4=) n.412C>G | |
7 | g.150974829G= | CA1752440916 | KCNH2 | c.189C= (p.Pro63=) c.12C= (p.Pro4=) n.412C= | |
7 | g.150974829G>T | CA458871986 | KCNH2 | c.189C>A (p.Pro63=) c.12C>A (p.Pro4=) n.412C>A | |
7 | g.150974830G>A | CA369865681 | KCNH2 | c.188C>T (p.Pro63Leu) c.11C>T (p.Pro4Leu) n.411C>T | ClinVar dbSNP |
7 | g.150974830G>C | CA369865678 | KCNH2 | c.188C>G (p.Pro63Arg) c.11C>G (p.Pro4Arg) n.411C>G | |
7 | g.150974830G= | CA1752440920 | KCNH2 | c.188C= (p.Pro63=) c.11C= (p.Pro4=) n.411C= | |
7 | g.150974830G>T | CA005881 | KCNH2 | c.188C>A (p.Pro63His) c.11C>A (p.Pro4His) n.411C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150974831G>A | CA369865682 | KCNH2 | c.187C>T (p.Pro63Ser) c.10C>T (p.Pro4Ser) n.410C>T | |
7 | g.150974831G>C | CA369865684 | KCNH2 | c.187C>G (p.Pro63Ala) c.10C>G (p.Pro4Ala) n.410C>G | |
7 | g.150974831G>T | CA369865686 | KCNH2 | c.187C>A (p.Pro63Thr) c.10C>A (p.Pro4Thr) n.410C>A |