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.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= | |
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 |
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 | |
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 | |
7 | g.150974831_150974832insCT | CA2512906394 | KCNH2 | c.186_187insAG (p.Pro63SerfsTer?) c.9_10insAG (p.Pro4SerfsTer?) n.409_410insAG | |
7 | g.150974832T>A | CA458871998 | KCNH2 | c.186A>T (p.Arg62=) c.9A>T (p.Arg3=) n.409A>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150974832T>C | CA458871999 | KCNH2 | c.186A>G (p.Arg62=) c.9A>G (p.Arg3=) n.409A>G | ClinVar |
7 | g.150974832T>G | CA458872001 | KCNH2 | c.186A>C (p.Arg62=) c.9A>C (p.Arg3=) n.409A>C | |
7 | g.150974832T= | CA1752440926 | KCNH2 | c.186A= (p.Arg62=) c.9A= (p.Arg3=) n.409A= | |
7 | g.150974833C>A | CA369865688 | KCNH2 | c.185G>T (p.Arg62Leu) c.8G>T (p.Arg3Leu) n.408G>T | |
7 | g.150974833C= | CA1752440932 | KCNH2 | c.185G= (p.Arg62=) c.8G= (p.Arg3=) n.408G= | |
7 | g.150974833C>G | CA369865690 | KCNH2 | c.185G>C (p.Arg62Pro) c.8G>C (p.Arg3Pro) n.408G>C | |
7 | g.150974833C>T | CA005697 | KCNH2 | c.185G>A (p.Arg62Gln) c.8G>A (p.Arg3Gln) n.408G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150974834_150974835del | CA2519673830 | KCNH2 | c.184_185del (p.Arg62ThrfsTer?) c.7_8del (p.Arg3ThrfsTer?) n.407_408del | |
7 | g.150974834G>A | CA369865693 | KCNH2 | c.184C>T (p.Arg62Ter) c.7C>T (p.Arg3Ter) n.407C>T | gnomAD v4 |
7 | g.150974834G>C | CA369865695 | KCNH2 | c.184C>G (p.Arg62Gly) c.7C>G (p.Arg3Gly) n.407C>G | |
7 | g.150974834G= | CA1752440937 | KCNH2 | c.184C= (p.Arg62=) c.7C= (p.Arg3=) n.407C= | |
7 | g.150974834G>T | CA458872223 | KCNH2 | c.184C>A (p.Arg62=) c.7C>A (p.Arg3=) n.407C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.150974835C>A | CA369865697 | KCNH2 | c.183G>T (p.Gln61His) c.6G>T (p.Gln2His) n.406G>T | |
7 | g.150974835C>G | CA369865698 | KCNH2 | c.183G>C (p.Gln61His) c.6G>C (p.Gln2His) n.406G>C | |
7 | g.150974835C>T | CA458872227 | KCNH2 | c.183G>A (p.Gln61=) c.6G>A (p.Gln2=) n.406G>A | |
7 | g.150974835_150974836delinsAG | CA2695208670 | KCNH2 | c.182_183delinsCT (p.Gln61Pro) c.5_6delinsCT (p.Gln2Pro) n.405_406delinsCT | |
7 | g.150974836T>A | CA369865701 | KCNH2 | c.182A>T (p.Gln61Leu) c.5A>T (p.Gln2Leu) n.405A>T | |
7 | g.150974836T>C | CA369865705 | KCNH2 | c.182A>G (p.Gln61Arg) c.5A>G (p.Gln2Arg) n.405A>G | ClinVar |
7 | g.150974836T>G | CA369865703 | KCNH2 | c.182A>C (p.Gln61Pro) c.5A>C (p.Gln2Pro) n.405A>C | |
7 | g.150974837G>A | CA369865707 | KCNH2 | c.181C>T (p.Gln61Ter) c.4C>T (p.Gln2Ter) n.404C>T | gnomAD v4 |
7 | g.150974837G>C | CA369865709 | KCNH2 | c.181C>G (p.Gln61Glu) c.4C>G (p.Gln2Glu) n.404C>G | gnomAD v4 |
7 | g.150974837G>T | CA369865710 | KCNH2 | c.181C>A (p.Gln61Lys) c.4C>A (p.Gln2Lys) n.404C>A | |
7 | g.150974838C>A | CA369865712 | KCNH2 | c.180G>T (p.Met60Ile) c.3G>T (p.Met1Ile) n.403G>T | |
7 | g.150974838C>G | CA369865714 | KCNH2 | c.180G>C (p.Met60Ile) c.3G>C (p.Met1Ile) n.403G>C | |
7 | g.150974838C>T | CA369865716 | KCNH2 | c.180G>A (p.Met60Ile) c.3G>A (p.Met1Ile) n.403G>A | ClinVar COSMIC COSMIC |
7 | g.150974839A>C | CA369865718 | KCNH2 | c.179T>G (p.Met60Arg) c.2T>G (p.Met1Arg) n.402T>G | |
7 | g.150974839A>G | CA369865720 | KCNH2 | c.179T>C (p.Met60Thr) c.2T>C (p.Met1Thr) n.402T>C | |
7 | g.150974839A>T | CA369865722 | KCNH2 | c.179T>A (p.Met60Lys) c.2T>A (p.Met1Lys) n.402T>A | |
7 | g.150974840T>A | CA369865727 | KCNH2 | c.178A>T (p.Met60Leu) c.1A>T (p.Met1Leu) n.401A>T | |
7 | g.150974840T>C | CA369865726 | KCNH2 | c.178A>G (p.Met60Val) c.1A>G (p.Met1Val) n.401A>G | |
7 | g.150974840T>G | CA369865724 | KCNH2 | c.178A>C (p.Met60Leu) c.1A>C (p.Met1Leu) n.401A>C | |
7 | g.150974841C>A | CA071355 | KCNH2 | c.177G>T (p.Val59=) c.-1G>T (n.-1G>T) n.400G>T | |
7 | g.150974841C= | CA1752440944 | KCNH2 | c.177G= (p.Val59=) c.-1G= (n.-1G=) n.400G= | |
7 | g.150974841C>G | CA458872259 | KCNH2 | c.177G>C (p.Val59=) c.-1G>C (n.-1G>C) n.400G>C | |
7 | g.150974841C>T | CA029471 | KCNH2 | c.177G>A (p.Val59=) c.-1G>A (n.-1G>A) n.400G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150974842A>C | CA369865731 | KCNH2 | c.176T>G (p.Val59Gly) c.-2T>G (n.-2T>G) n.399T>G | |
7 | g.150974842A>G | CA369865732 | KCNH2 | c.176T>C (p.Val59Ala) c.-2T>C (n.-2T>C) n.399T>C | |
7 | g.150974842A>T | CA369865734 | KCNH2 | c.176T>A (p.Val59Glu) c.-2T>A (n.-2T>A) n.399T>A | |
7 | g.150974843C>A | CA369865737 | KCNH2 | c.175G>T (p.Val59Leu) c.-3G>T (n.-3G>T) n.398G>T | |
7 | g.150974843C>G | CA369865738 | KCNH2 | c.175G>C (p.Val59Leu) c.-3G>C (n.-3G>C) n.398G>C | |
7 | g.150974843C>T | CA369865739 | KCNH2 | c.175G>A (p.Val59Met) c.-3G>A (n.-3G>A) n.398G>A | |
7 | g.150974844C>A | CA369865741 | KCNH2 | c.174G>T (p.Glu58Asp) c.-4G>T (n.-4G>T) n.397G>T | |
7 | g.150974844C= | CA1752440948 | KCNH2 | c.174G= (p.Glu58=) c.-4G= (n.-4G=) n.397G= | |
7 | g.150974844C>G | CA005364 | KCNH2 | c.174G>C (p.Glu58Asp) c.-4G>C (n.-4G>C) n.397G>C | ClinVar dbSNP |
7 | g.150974844C>T | CA458872295 | KCNH2 | c.174G>A (p.Glu58=) c.-4G>A (n.-4G>A) n.397G>A | gnomAD v4 |
7 | g.150974845T>A | CA369865742 | KCNH2 | c.173A>T (p.Glu58Val) c.-5A>T (n.-5A>T) n.396A>T | |
7 | g.150974845T>C | CA005331 | KCNH2 | c.173A>G (p.Glu58Gly) c.-5A>G (n.-5A>G) n.396A>G | ClinVar dbSNP |
7 | g.150974845T>G | CA005322 | KCNH2 | c.173A>C (p.Glu58Ala) c.-5A>C (n.-5A>C) n.396A>C | ClinVar dbSNP |
7 | g.150974845T= | CA1752440965 | KCNH2 | c.173A= (p.Glu58=) c.-5A= (n.-5A=) n.396A= | |
7 | g.150974846C>A | CA369865747 | KCNH2 | c.172G>T (p.Glu58Ter) c.-6G>T (n.-6G>T) n.395G>T | ClinVar |
7 | g.150974846C= | CA1752440975 | KCNH2 | c.172G= (p.Glu58=) c.-6G= (n.-6G=) n.395G= | |
7 | g.150974846C>G | CA369865745 | KCNH2 | c.172G>C (p.Glu58Gln) c.-6G>C (n.-6G>C) n.395G>C | ClinVar |
7 | g.150974846C>T | CA005294 | KCNH2 | c.172G>A (p.Glu58Lys) c.-6G>A (n.-6G>A) n.395G>A | ClinVar dbSNP |
7 | g.150974847G>A | CA458872310 | KCNH2 | c.171C>T (p.Ala57=) c.-7C>T (n.-7C>T) n.394C>T | ClinVar |
7 | g.150974847G>C | CA458872311 | KCNH2 | c.171C>G (p.Ala57=) c.-7C>G (n.-7C>G) n.394C>G | |
7 | g.150974847G>T | CA458872314 | KCNH2 | c.171C>A (p.Ala57=) c.-7C>A (n.-7C>A) n.394C>A | |
7 | g.150974848G>A | CA005221 | KCNH2 | c.170C>T (p.Ala57Val) c.-8C>T (n.-8C>T) n.393C>T | ClinVar dbSNP |
7 | g.150974848G>C | CA369865751 | KCNH2 | c.170C>G (p.Ala57Gly) c.-8C>G (n.-8C>G) n.393C>G | |
7 | g.150974848G= | CA1752440986 | KCNH2 | c.170C= (p.Ala57=) c.-8C= (n.-8C=) n.393C= | |
7 | g.150974848G>T | CA369865752 | KCNH2 | c.170C>A (p.Ala57Asp) c.-8C>A (n.-8C>A) n.393C>A | gnomAD v4 COSMIC COSMIC |
7 | g.150974849C>A | CA369865754 | KCNH2 | c.169G>T (p.Ala57Ser) c.-9G>T (n.-9G>T) n.392G>T | ClinVar gnomAD v4 |
7 | g.150974849C= | CA1752440995 | KCNH2 | c.169G= (p.Ala57=) c.-9G= (n.-9G=) n.392G= | |
7 | g.150974849C>G | CA005160 | KCNH2 | c.169G>C (p.Ala57Pro) c.-9G>C (n.-9G>C) n.392G>C | ClinVar dbSNP |
7 | g.150974849C>T | CA369865757 | KCNH2 | c.169G>A (p.Ala57Thr) c.-9G>A (n.-9G>A) n.392G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.150974850C>A | CA458872324 | KCNH2 | c.168G>T (p.Arg56=) c.-10G>T (n.-10G>T) n.391G>T | |
7 | g.150974850C>G | CA458872326 | KCNH2 | c.168G>C (p.Arg56=) c.-10G>C (n.-10G>C) n.391G>C | |
7 | g.150974850C>T | CA458872325 | KCNH2 | c.168G>A (p.Arg56=) c.-10G>A (n.-10G>A) n.391G>A | |
7 | g.150974851C>A | CA005012 | KCNH2 | c.167G>T (p.Arg56Leu) c.-11G>T (n.-11G>T) n.390G>T | ClinVar dbSNP gnomAD v4 |
7 | g.150974851C= | CA1752441009 | KCNH2 | c.167G= (p.Arg56=) c.-11G= (n.-11G=) n.390G= | |
7 | g.150974851C>G | CA369865760 | KCNH2 | c.167G>C (p.Arg56Pro) c.-11G>C (n.-11G>C) n.390G>C | ClinVar gnomAD v4 |
7 | g.150974851C>T | CA005006 | KCNH2 | c.167G>A (p.Arg56Gln) c.-11G>A (n.-11G>A) n.390G>A | ClinVar dbSNP |
7 | g.150974852G>A | CA369865762 | KCNH2 | c.166C>T (p.Arg56Trp) c.-12C>T (n.-12C>T) n.389C>T | |
7 | g.150974852G>C | CA369865764 | KCNH2 | c.166C>G (p.Arg56Gly) c.-12C>G (n.-12C>G) n.389C>G | dbSNP |
7 | g.150974852G= | CA1752441018 | KCNH2 | c.166C= (p.Arg56=) c.-12C= (n.-12C=) n.389C= | |
7 | g.150974852G>T | CA458872333 | KCNH2 | c.166C>A (p.Arg56=) c.-12C>A (n.-12C>A) n.389C>A | ClinVar dbSNP gnomAD v4 |
7 | g.150974853C>A | CA458872335 | KCNH2 | c.165G>T (p.Ser55=) c.-13G>T (n.-13G>T) n.388G>T | |
7 | g.150974853C= | CA1752441025 | KCNH2 | c.165G= (p.Ser55=) c.-13G= (n.-13G=) n.388G= | |
7 | g.150974853C>G | CA458872337 | KCNH2 | c.165G>C (p.Ser55=) c.-13G>C (n.-13G>C) n.388G>C | ClinVar dbSNP gnomAD v4 |
7 | g.150974853C>T | CA458872339 | KCNH2 | c.165G>A (p.Ser55=) c.-13G>A (n.-13G>A) n.388G>A | ClinVar dbSNP |
7 | g.150974854G>A | CA004951 | KCNH2 | c.164C>T (p.Ser55Leu) c.-14C>T (n.-14C>T) n.387C>T | ClinVar dbSNP gnomAD v4 |
7 | g.150974854G>C | CA369865767 | KCNH2 | c.164C>G (p.Ser55Trp) c.-14C>G (n.-14C>G) n.387C>G | ClinVar |
7 | g.150974854G= | CA1752441034 | KCNH2 | c.164C= (p.Ser55=) c.-14C= (n.-14C=) n.387C= | |
7 | g.150974854G>T | CA16618417 | KCNH2 | c.164C>A (p.Ser55Ter) c.-14C>A (n.-14C>A) n.387C>A | ClinVar dbSNP |
7 | g.150974855A>C | CA369865772 | KCNH2 | c.163T>G (p.Ser55Ala) c.-15T>G (n.-15T>G) n.386T>G | |
7 | g.150974855A>G | CA369865769 | KCNH2 | c.163T>C (p.Ser55Pro) c.-15T>C (n.-15T>C) n.386T>C | |
7 | g.150974855A>T | CA369865771 | KCNH2 | c.163T>A (p.Ser55Thr) c.-15T>A (n.-15T>A) n.386T>A | |
7 | g.150974856G>A | CA458872344 | KCNH2 | c.162C>T (p.Tyr54=) c.-16C>T (n.-16C>T) n.385C>T | gnomAD v4 |
7 | g.150974856G>C | CA369865774 | KCNH2 | c.162C>G (p.Tyr54Ter) c.-16C>G (n.-16C>G) n.385C>G | ClinVar dbSNP |
7 | g.150974856G= | CA1752441042 | KCNH2 | c.162C= (p.Tyr54=) c.-16C= (n.-16C=) n.385C= | |
7 | g.150974856G>T | CA369865776 | KCNH2 | c.162C>A (p.Tyr54Ter) c.-16C>A (n.-16C>A) n.385C>A | ClinVar dbSNP |
7 | g.150974857T>A | CA369865778 | KCNH2 | c.161A>T (p.Tyr54Phe) c.-17A>T (n.-17A>T) n.384A>T | |
7 | g.150974857T>C | CA369865779 | KCNH2 | c.161A>G (p.Tyr54Cys) c.-17A>G (n.-17A>G) n.384A>G | gnomAD v4 |
7 | g.150974857T>G | CA369865780 | KCNH2 | c.161A>C (p.Tyr54Ser) c.-17A>C (n.-17A>C) n.384A>C | |
7 | g.150974858A= | CA1752441049 | KCNH2 | c.160T= (p.Tyr54=) c.-18T= (n.-18T=) n.383T= | |
7 | g.150974858A>C | CA369865781 | KCNH2 | c.160T>G (p.Tyr54Asp) c.-18T>G (n.-18T>G) n.383T>G | |
7 | g.150974858A>G | CA004937 | KCNH2 | c.160T>C (p.Tyr54His) c.-18T>C (n.-18T>C) n.383T>C | ClinVar dbSNP |
7 | g.150974858A>T | CA369865782 | KCNH2 | c.160T>A (p.Tyr54Asn) c.-18T>A (n.-18T>A) n.383T>A | |
7 | g.150974859G>A | CA458872359 | KCNH2 | c.159C>T (p.Gly53=) c.-19C>T (n.-19C>T) n.382C>T | |
7 | g.150974859G>C | CA458872361 | KCNH2 | c.159C>G (p.Gly53=) c.-19C>G (n.-19C>G) n.382C>G | ClinVar |
7 | g.150974859G>T | CA458872364 | KCNH2 | c.159C>A (p.Gly53=) c.-19C>A (n.-19C>A) n.382C>A | gnomAD v4 |
7 | g.150974860C>A | CA369865783 | KCNH2 | c.158G>T (p.Gly53Val) c.-20G>T (n.-20G>T) n.381G>T | |
7 | g.150974860C= | CA1752441052 | KCNH2 | c.158G= (p.Gly53=) c.-20G= (n.-20G=) n.381G= | |
7 | g.150974860C>G | CA369865784 | KCNH2 | c.158G>C (p.Gly53Ala) c.-20G>C (n.-20G>C) n.381G>C | |
7 | g.150974860C>T | CA004864 | KCNH2 | c.158G>A (p.Gly53Asp) c.-20G>A (n.-20G>A) n.381G>A | ClinVar dbSNP gnomAD v2 |
7 | g.150974861C>A | CA369865785 | KCNH2 | c.157G>T (p.Gly53Cys) c.-21G>T (n.-21G>T) n.380G>T | ClinVar dbSNP |
7 | g.150974861C= | CA1752441061 | KCNH2 | c.157G= (p.Gly53=) c.-21G= (n.-21G=) n.380G= | |
7 | g.150974861C>G | CA004831 | KCNH2 | c.157G>C (p.Gly53Arg) c.-21G>C (n.-21G>C) n.380G>C | ClinVar dbSNP |
7 | g.150974861C>T | CA004823 | KCNH2 | c.157G>A (p.Gly53Ser) c.-21G>A (n.-21G>A) n.380G>A | ClinVar dbSNP |
7 | g.150974862G>A | CA028802 | KCNH2 | c.156C>T (p.Cys52=) c.-22C>T (n.-22C>T) n.379C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150974862G>C | CA028777 | KCNH2 | c.156C>G (p.Cys52Trp) c.-22C>G (n.-22C>G) n.379C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150974862G= | CA1752441080 | KCNH2 | c.156C= (p.Cys52=) c.-22C= (n.-22C=) n.379C= | |
7 | g.150974862G>T | CA004804 | KCNH2 | c.156C>A (p.Cys52Ter) c.-22C>A (n.-22C>A) n.379C>A | ClinVar dbSNP gnomAD v4 |
7 | g.150974863C>A | CA369865786 | KCNH2 | c.155G>T (p.Cys52Phe) c.-23G>T (n.-23G>T) n.378G>T | |
7 | g.150974863C>G | CA369865787 | KCNH2 | c.155G>C (p.Cys52Ser) c.-23G>C (n.-23G>C) n.378G>C | |
7 | g.150974863C>T | CA369865788 | KCNH2 | c.155G>A (p.Cys52Tyr) c.-23G>A (n.-23G>A) n.378G>A | |
7 | g.150974863_150974864delinsCA | CA1752441090 | KCNH2 | c.154_155delinsTG (p.Cys52=) c.-24_-23delinsTG (n.-24_-23delinsTG) n.377_378delinsTG | |
7 | g.150974864del | CA004782 | KCNH2 | c.154del (p.Cys52AlafsTer8) c.-24del (n.-24del) n.377del | ClinVar dbSNP |
7 | g.150974864A>C | CA369865789 | KCNH2 | c.154T>G (p.Cys52Gly) c.-24T>G (n.-24T>G) n.377T>G | |
7 | g.150974864A>G | CA369865790 | KCNH2 | c.154T>C (p.Cys52Arg) c.-24T>C (n.-24T>C) n.377T>C | |
7 | g.150974864A>T | CA369865791 | KCNH2 | c.154T>A (p.Cys52Ser) c.-24T>A (n.-24T>A) n.377T>A | |
7 | g.150974865C>A | CA458872383 | KCNH2 | c.153G>T (p.Leu51=) c.-25G>T (n.-25G>T) n.376G>T | |
7 | g.150974865C= | CA1752441101 | KCNH2 | c.153G= (p.Leu51=) c.-25G= (n.-25G=) n.376G= | |
7 | g.150974865C>G | CA458872387 | KCNH2 | c.153G>C (p.Leu51=) c.-25G>C (n.-25G>C) n.376G>C | gnomAD v4 |
7 | g.150974865C>T | CA458872388 | KCNH2 | c.153G>A (p.Leu51=) c.-25G>A (n.-25G>A) n.376G>A | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150974866A>C | CA369865793 | KCNH2 | c.152T>G (p.Leu51Arg) c.-26T>G (n.-26T>G) n.375T>G | |
7 | g.150974866A>G | CA369865794 | KCNH2 | c.152T>C (p.Leu51Pro) c.-26T>C (n.-26T>C) n.375T>C | ClinVar |
7 | g.150974866A>T | CA369865792 | KCNH2 | c.152T>A (p.Leu51Gln) c.-26T>A (n.-26T>A) n.375T>A | |
7 | g.150974867G>A | CA169090403 | KCNH2 | c.151C>T (p.Leu51=) c.-27C>T (n.-27C>T) n.374C>T | dbSNP gnomAD v4 |
7 | g.150974867G>C | CA369865795 | KCNH2 | c.151C>G (p.Leu51Val) c.-27C>G (n.-27C>G) n.374C>G | |
7 | g.150974867G= | CA1752441103 | KCNH2 | c.151C= (p.Leu51=) c.-27C= (n.-27C=) n.374C= | |
7 | g.150974867G>T | CA369865796 | KCNH2 | c.151C>A (p.Leu51Met) c.-27C>A (n.-27C>A) n.374C>A | |
7 | g.150974868del | CA2685604958 | KCNH2 | c.150del (p.Glu50AspfsTer10) c.-28del (n.-28del) n.373del | gnomAD v4 |
7 | g.150974868C>A | CA004747 | KCNH2 | c.150G>T (p.Glu50Asp) c.-28G>T (n.-28G>T) n.373G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.150974868C= | CA1752441106 | KCNH2 | c.150G= (p.Glu50=) c.-28G= (n.-28G=) n.373G= | |
7 | g.150974868C>G | CA369865797 | KCNH2 | c.150G>C (p.Glu50Asp) c.-28G>C (n.-28G>C) n.373G>C | |
7 | g.150974868C>T | CA458872398 | KCNH2 | c.150G>A (p.Glu50=) c.-28G>A (n.-28G>A) n.373G>A | gnomAD v4 |
7 | g.150974869T>A | CA369865798 | KCNH2 | c.149A>T (p.Glu50Val) c.-29A>T (n.-29A>T) n.372A>T | |
7 | g.150974869T>C | CA369865799 | KCNH2 | c.149A>G (p.Glu50Gly) c.-29A>G (n.-29A>G) n.372A>G | |
7 | g.150974869T>G | CA369865800 | KCNH2 | c.149A>C (p.Glu50Ala) c.-29A>C (n.-29A>C) n.372A>C | |
7 | g.150974870del | CA2695208671 | KCNH2 | c.148del (p.Glu50SerfsTer10) c.-30del (n.-30del) n.371del | |
7 | g.150974870C>A | CA369865801 | KCNH2 | c.148G>T (p.Glu50Ter) c.-30G>T (n.-30G>T) n.371G>T | gnomAD v4 |
7 | g.150974870C= | CA1752441129 | KCNH2 | c.148G= (p.Glu50=) c.-30G= (n.-30G=) n.371G= | |
7 | g.150974870C>G | CA369865802 | KCNH2 | c.148G>C (p.Glu50Gln) c.-30G>C (n.-30G>C) n.371G>C | ClinVar dbSNP |
7 | g.150974870C>T | CA369865803 | KCNH2 | c.148G>A (p.Glu50Lys) c.-30G>A (n.-30G>A) n.371G>A |