| 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.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 | |
| 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 |