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.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.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.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.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 | |
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 |