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.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 | 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= |