Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.17387752T>A | CA379774328 | KCNJ11 | c.112A>T (p.Ile38Phe) c.79A>T (p.Ile27Phe) c.340A>T (p.Ile114Phe) c.357A>T n.498A>T | |
11 | g.17387752T>C | CA379774329 | KCNJ11 | c.112A>G (p.Ile38Val) c.79A>G (p.Ile27Val) c.340A>G (p.Ile114Val) c.357A>G n.498A>G | |
11 | g.17387752T>G | CA379774332 | KCNJ11 | c.112A>C (p.Ile38Leu) c.79A>C (p.Ile27Leu) c.340A>C (p.Ile114Leu) c.357A>C n.498A>C | |
11 | g.17387753G>A | CA473515661 | KCNJ11 | c.111C>T (p.Ser37=) c.78C>T (p.Ser26=) c.339C>T (p.Ser113=) c.356C>T n.497C>T | |
11 | g.17387753G>C | CA379774335 | KCNJ11 | c.111C>G (p.Ser37Arg) c.78C>G (p.Ser26Arg) c.339C>G (p.Ser113Arg) c.356C>G n.497C>G | |
11 | g.17387753G>T | CA379774337 | KCNJ11 | c.111C>A (p.Ser37Arg) c.78C>A (p.Ser26Arg) c.339C>A (p.Ser113Arg) c.356C>A n.497C>A | |
11 | g.17387754C>A | CA379774346 | KCNJ11 | c.110G>T (p.Ser37Ile) c.77G>T (p.Ser26Ile) c.338G>T (p.Ser113Ile) c.355G>T n.496G>T | |
11 | g.17387754C>G | CA379774343 | KCNJ11 | c.110G>C (p.Ser37Thr) c.77G>C (p.Ser26Thr) c.338G>C (p.Ser113Thr) c.355G>C n.496G>C | |
11 | g.17387754C>T | CA379774340 | KCNJ11 | c.110G>A (p.Ser37Asn) c.77G>A (p.Ser26Asn) c.338G>A (p.Ser113Asn) c.355G>A n.496G>A | |
11 | g.17387755T>A | CA379774349 | KCNJ11 | c.109A>T (p.Ser37Cys) c.76A>T (p.Ser26Cys) c.337A>T (p.Ser113Cys) c.354A>T n.495A>T | |
11 | g.17387755T>C | CA5902300 | KCNJ11 | c.109A>G (p.Ser37Gly) c.76A>G (p.Ser26Gly) c.337A>G (p.Ser113Gly) c.354A>G n.495A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387755T>G | CA379774352 | KCNJ11 | c.109A>C (p.Ser37Arg) c.76A>C (p.Ser26Arg) c.337A>C (p.Ser113Arg) c.354A>C n.495A>C | |
11 | g.17387755T= | CA1955119380 | KCNJ11 | c.109A= (p.Ser37=) c.76A= (p.Ser26=) c.337A= (p.Ser113=) c.354A= n.495A= | |
11 | g.17387755dup | CA2840305422 | KCNJ11 | c.109dup (p.Ser37LysfsTer14) c.76dup (p.Ser26LysfsTer14) c.337dup (p.Ser113LysfsTer14) c.354dup n.495dup | |
11 | g.17387756G>A | CA473515758 | KCNJ11 | c.108C>T (p.Thr36=) c.75C>T (p.Thr25=) c.336C>T (p.Thr112=) c.353C>T n.494C>T | |
11 | g.17387756G>C | CA473515759 | KCNJ11 | c.108C>G (p.Thr36=) c.75C>G (p.Thr25=) c.336C>G (p.Thr112=) c.353C>G n.494C>G | ClinVar dbSNP |
11 | g.17387756G>T | CA473515760 | KCNJ11 | c.108C>A (p.Thr36=) c.75C>A (p.Thr25=) c.336C>A (p.Thr112=) c.353C>A n.494C>A | |
11 | g.17387757dup | CA2840305423 | KCNJ11 | c.108dup (p.Ser37GlnfsTer14) c.75dup (p.Ser26GlnfsTer14) c.336dup (p.Ser113GlnfsTer14) c.353dup n.494dup | |
11 | g.17387757G>A | CA379774358 | KCNJ11 | c.107C>T (p.Thr36Ile) c.74C>T (p.Thr25Ile) c.335C>T (p.Thr112Ile) c.352C>T n.493C>T | |
11 | g.17387757G>C | CA379774360 | KCNJ11 | c.107C>G (p.Thr36Ser) c.74C>G (p.Thr25Ser) c.335C>G (p.Thr112Ser) c.352C>G n.493C>G | |
11 | g.17387757G>T | CA379774363 | KCNJ11 | c.107C>A (p.Thr36Asn) c.74C>A (p.Thr25Asn) c.335C>A (p.Thr112Asn) c.352C>A n.493C>A | ClinVar gnomAD v4 |
11 | g.17387758T>A | CA379774366 | KCNJ11 | c.106A>T (p.Thr36Ser) c.73A>T (p.Thr25Ser) c.334A>T (p.Thr112Ser) c.351A>T n.492A>T | |
11 | g.17387758T>C | CA5902301 | KCNJ11 | c.106A>G (p.Thr36Ala) c.73A>G (p.Thr25Ala) c.334A>G (p.Thr112Ala) c.351A>G n.492A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17387758T>G | CA379774370 | KCNJ11 | c.106A>C (p.Thr36Pro) c.73A>C (p.Thr25Pro) c.334A>C (p.Thr112Pro) c.351A>C n.492A>C | dbSNP |
11 | g.17387758T= | CA1955119381 | KCNJ11 | c.106A= (p.Thr36=) c.73A= (p.Thr25=) c.334A= (p.Thr112=) c.351A= n.492A= | |
11 | g.17387759G>A | CA473515761 | KCNJ11 | c.105C>T (p.Val35=) c.72C>T (p.Val24=) c.333C>T (p.Val111=) c.350C>T n.491C>T | COSMIC |
11 | g.17387759G>C | CA473515762 | KCNJ11 | c.105C>G (p.Val35=) c.72C>G (p.Val24=) c.333C>G (p.Val111=) c.350C>G n.491C>G | |
11 | g.17387759G>T | CA473515763 | KCNJ11 | c.105C>A (p.Val35=) c.72C>A (p.Val24=) c.333C>A (p.Val111=) c.350C>A n.491C>A | |
11 | g.17387760A>C | CA379774380 | KCNJ11 | c.104T>G (p.Val35Gly) c.71T>G (p.Val24Gly) c.332T>G (p.Val111Gly) c.349T>G n.490T>G | |
11 | g.17387760A>G | CA379774382 | KCNJ11 | c.104T>C (p.Val35Ala) c.71T>C (p.Val24Ala) c.332T>C (p.Val111Ala) c.349T>C n.490T>C | |
11 | g.17387760A>T | CA379774385 | KCNJ11 | c.104T>A (p.Val35Asp) c.71T>A (p.Val24Asp) c.332T>A (p.Val111Asp) c.349T>A n.490T>A | |
11 | g.17387763_17387764del | CA2580615637 | KCNJ11 | c.103_104del (p.Val35HisfsTer15) c.70_71del (p.Val24HisfsTer15) c.331_332del (p.Val111HisfsTer15) c.348_349del n.489_490del | ClinVar dbSNP |
11 | g.17387761C>A | CA379774389 | KCNJ11 | c.103G>T (p.Val35Phe) c.70G>T (p.Val24Phe) c.331G>T (p.Val111Phe) c.348G>T n.489G>T | |
11 | g.17387761C= | CA1955119382 | KCNJ11 | c.103G= (p.Val35=) c.70G= (p.Val24=) c.331G= (p.Val111=) c.348G= n.489G= | |
11 | g.17387761C>G | CA379774391 | KCNJ11 | c.103G>C (p.Val35Leu) c.70G>C (p.Val24Leu) c.331G>C (p.Val111Leu) c.348G>C n.489G>C | |
11 | g.17387761C>T | CA218399995 | KCNJ11 | c.103G>A (p.Val35Ile) c.70G>A (p.Val24Ile) c.331G>A (p.Val111Ile) c.348G>A n.489G>A | dbSNP |
11 | g.17387762del | CA2840305424 | KCNJ11 | c.102del (p.Cys34TrpfsTer20) c.69del (p.Cys23TrpfsTer20) c.330del (p.Cys110TrpfsTer20) c.347del n.488del | |
11 | g.17387762A>C | CA379774399 | KCNJ11 | c.102T>G (p.Cys34Trp) c.69T>G (p.Cys23Trp) c.330T>G (p.Cys110Trp) c.347T>G n.488T>G | |
11 | g.17387762A>G | CA473515764 | KCNJ11 | c.102T>C (p.Cys34=) c.69T>C (p.Cys23=) c.330T>C (p.Cys110=) c.347T>C n.488T>C | ClinVar dbSNP |
11 | g.17387762A>T | CA379774397 | KCNJ11 | c.102T>A (p.Cys34Ter) c.69T>A (p.Cys23Ter) c.330T>A (p.Cys110Ter) c.347T>A n.488T>A | |
11 | g.17387763C>A | CA379774404 | KCNJ11 | c.101G>T (p.Cys34Phe) c.68G>T (p.Cys23Phe) c.329G>T (p.Cys110Phe) c.346G>T n.487G>T | ClinVar dbSNP COSMIC |
11 | g.17387763C= | CA1955119383 | KCNJ11 | c.101G= (p.Cys34=) c.68G= (p.Cys23=) c.329G= (p.Cys110=) c.346G= n.487G= | |
11 | g.17387763C>G | CA379774406 | KCNJ11 | c.101G>C (p.Cys34Ser) c.68G>C (p.Cys23Ser) c.329G>C (p.Cys110Ser) c.346G>C n.487G>C | |
11 | g.17387763C>T | CA379774409 | KCNJ11 | c.101G>A (p.Cys34Tyr) c.68G>A (p.Cys23Tyr) c.329G>A (p.Cys110Tyr) c.346G>A n.487G>A | |
11 | g.17387763_17387764insTGGCCCCCAGCG | CA2840305425 | KCNJ11 | c.100_101insCGCTGGGGGCCA (p.Cys34delinsSerLeuGlyAlaSer) c.67_68insCGCTGGGGGCCA (p.Cys23delinsSerLeuGlyAlaSer) c.328_329insCGCTGGGGGCCA (p.Cys110delinsSerLeuGlyAlaSer) c.345_346insCGCTGGGGGCCA n.486_487insCGCTGGGGGCCA | |
11 | g.17387764A>C | CA379774413 | KCNJ11 | c.100T>G (p.Cys34Gly) c.67T>G (p.Cys23Gly) c.328T>G (p.Cys110Gly) c.345T>G n.486T>G | |
11 | g.17387764A>G | CA379774418 | KCNJ11 | c.100T>C (p.Cys34Arg) c.67T>C (p.Cys23Arg) c.328T>C (p.Cys110Arg) c.345T>C n.486T>C | |
11 | g.17387764A>T | CA379774420 | KCNJ11 | c.100T>A (p.Cys34Ser) c.67T>A (p.Cys23Ser) c.328T>A (p.Cys110Ser) c.345T>A n.486T>A | |
11 | g.17387765G>A | CA473515765 | KCNJ11 | c.99C>T (p.Pro33=) c.66C>T (p.Pro22=) c.327C>T (p.Pro109=) c.344C>T n.485C>T | |
11 | g.17387765G>C | CA473515767 | KCNJ11 | c.99C>G (p.Pro33=) c.66C>G (p.Pro22=) c.327C>G (p.Pro109=) c.344C>G n.485C>G | |
11 | g.17387765G>T | CA473515766 | KCNJ11 | c.99C>A (p.Pro33=) c.66C>A (p.Pro22=) c.327C>A (p.Pro109=) c.344C>A n.485C>A | |
11 | g.17387767del | CA2838557892 | KCNJ11 | c.99del (p.Cys34ValfsTer20) c.66del (p.Cys23ValfsTer20) c.327del (p.Cys110ValfsTer20) c.344del n.485del | |
11 | g.17387766G>A | CA379774423 | KCNJ11 | c.98C>T (p.Pro33Leu) c.65C>T (p.Pro22Leu) c.326C>T (p.Pro109Leu) c.343C>T n.484C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387766G>C | CA379774424 | KCNJ11 | c.98C>G (p.Pro33Arg) c.65C>G (p.Pro22Arg) c.326C>G (p.Pro109Arg) c.343C>G n.484C>G | |
11 | g.17387766G= | CA1955119384 | KCNJ11 | c.98C= (p.Pro33=) c.65C= (p.Pro22=) c.326C= (p.Pro109=) c.343C= n.484C= | |
11 | g.17387766G>T | CA379774427 | KCNJ11 | c.98C>A (p.Pro33His) c.65C>A (p.Pro22His) c.326C>A (p.Pro109His) c.343C>A n.484C>A | |
11 | g.17387767G>A | CA379774432 | KCNJ11 | c.97C>T (p.Pro33Ser) c.64C>T (p.Pro22Ser) c.325C>T (p.Pro109Ser) c.342C>T n.483C>T | dbSNP |
11 | g.17387767G>C | CA379774435 | KCNJ11 | c.97C>G (p.Pro33Ala) c.64C>G (p.Pro22Ala) c.325C>G (p.Pro109Ala) c.342C>G n.483C>G | |
11 | g.17387767G= | CA1955119385 | KCNJ11 | c.97C= (p.Pro33=) c.64C= (p.Pro22=) c.325C= (p.Pro109=) c.342C= n.483C= | |
11 | g.17387767G>T | CA5902302 | KCNJ11 | c.97C>A (p.Pro33Thr) c.64C>A (p.Pro22Thr) c.325C>A (p.Pro109Thr) c.342C>A n.483C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17387768C>A | CA379774444 | KCNJ11 | c.96G>T (p.Glu32Asp) c.63G>T (p.Glu21Asp) c.324G>T (p.Glu108Asp) c.341G>T n.482G>T | |
11 | g.17387768C>G | CA379774442 | KCNJ11 | c.96G>C (p.Glu32Asp) c.63G>C (p.Glu21Asp) c.324G>C (p.Glu108Asp) c.341G>C n.482G>C | ClinVar |
11 | g.17387768C>T | CA473515768 | KCNJ11 | c.96G>A (p.Glu32=) c.63G>A (p.Glu21=) c.324G>A (p.Glu108=) c.341G>A n.482G>A | |
11 | g.17387769T>A | CA379774448 | KCNJ11 | c.95A>T (p.Glu32Val) c.62A>T (p.Glu21Val) c.323A>T (p.Glu108Val) c.340A>T n.481A>T | |
11 | g.17387769T>C | CA379774451 | KCNJ11 | c.95A>G (p.Glu32Gly) c.62A>G (p.Glu21Gly) c.323A>G (p.Glu108Gly) c.340A>G n.481A>G | |
11 | g.17387769T>G | CA379774453 | KCNJ11 | c.95A>C (p.Glu32Ala) c.62A>C (p.Glu21Ala) c.323A>C (p.Glu108Ala) c.340A>C n.481A>C | |
11 | g.17387770C>A | CA379774457 | KCNJ11 | c.94G>T (p.Glu32Ter) c.61G>T (p.Glu21Ter) c.322G>T (p.Glu108Ter) c.339G>T n.480G>T | |
11 | g.17387770C= | CA1955119386 | KCNJ11 | c.94G= (p.Glu32=) c.61G= (p.Glu21=) c.322G= (p.Glu108=) c.339G= n.480G= | |
11 | g.17387770C>G | CA379774460 | KCNJ11 | c.94G>C (p.Glu32Gln) c.61G>C (p.Glu21Gln) c.322G>C (p.Glu108Gln) c.339G>C n.480G>C | |
11 | g.17387770C>T | CA379774462 | KCNJ11 | c.94G>A (p.Glu32Lys) c.61G>A (p.Glu21Lys) c.322G>A (p.Glu108Lys) c.339G>A n.480G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387771A>C | CA473515769 | KCNJ11 | c.93T>G (p.Ala31=) c.60T>G (p.Ala20=) c.321T>G (p.Ala107=) c.338T>G n.479T>G | |
11 | g.17387771A>G | CA473515771 | KCNJ11 | c.93T>C (p.Ala31=) c.60T>C (p.Ala20=) c.321T>C (p.Ala107=) c.338T>C n.479T>C | |
11 | g.17387771A>T | CA473515770 | KCNJ11 | c.93T>A (p.Ala31=) c.60T>A (p.Ala20=) c.321T>A (p.Ala107=) c.338T>A n.479T>A | |
11 | g.17387771_17387772insAA | CA2790574787 | KCNJ11 | c.93_94insTT (p.Glu32LeufsTer23) c.60_61insTT (p.Glu21LeufsTer23) c.321_322insTT (p.Glu108LeufsTer23) c.338_339insTT n.479_480insTT | |
11 | g.17387772G>A | CA379774465 | KCNJ11 | c.92C>T (p.Ala31Val) c.59C>T (p.Ala20Val) c.320C>T (p.Ala107Val) c.337C>T n.478C>T | |
11 | g.17387772G>C | CA379774466 | KCNJ11 | c.92C>G (p.Ala31Gly) c.59C>G (p.Ala20Gly) c.320C>G (p.Ala107Gly) c.337C>G n.478C>G | |
11 | g.17387772G>T | CA379774468 | KCNJ11 | c.92C>A (p.Ala31Asp) c.59C>A (p.Ala20Asp) c.320C>A (p.Ala107Asp) c.337C>A n.478C>A | |
11 | g.17387773C>A | CA379774474 | KCNJ11 | c.91G>T (p.Ala31Ser) c.58G>T (p.Ala20Ser) c.319G>T (p.Ala107Ser) c.336G>T n.477G>T | |
11 | g.17387773C>G | CA379774475 | KCNJ11 | c.91G>C (p.Ala31Pro) c.58G>C (p.Ala20Pro) c.319G>C (p.Ala107Pro) c.336G>C n.477G>C | |
11 | g.17387773C>T | CA379774477 | KCNJ11 | c.91G>A (p.Ala31Thr) c.58G>A (p.Ala20Thr) c.319G>A (p.Ala107Thr) c.336G>A n.477G>A | gnomAD v4 |
11 | g.17387774A>C | CA473515772 | KCNJ11 | c.90T>G (p.Thr30=) c.57T>G (p.Thr19=) c.318T>G (p.Thr106=) c.335T>G n.476T>G | |
11 | g.17387774A>G | CA473515773 | KCNJ11 | c.90T>C (p.Thr30=) c.57T>C (p.Thr19=) c.318T>C (p.Thr106=) c.335T>C n.476T>C | |
11 | g.17387774A>T | CA473515774 | KCNJ11 | c.90T>A (p.Thr30=) c.57T>A (p.Thr19=) c.318T>A (p.Thr106=) c.335T>A n.476T>A | |
11 | g.17387775del | CA2739276316 | KCNJ11 | c.89del (p.Thr30MetfsTer24) c.56del (p.Thr19MetfsTer24) c.317del (p.Thr106MetfsTer24) c.334del n.475del | ClinVar |
11 | g.17387775G>A | CA379774483 | KCNJ11 | c.89C>T (p.Thr30Ile) c.56C>T (p.Thr19Ile) c.317C>T (p.Thr106Ile) c.334C>T n.475C>T | ClinVar |
11 | g.17387775G>C | CA379774486 | KCNJ11 | c.89C>G (p.Thr30Ser) c.56C>G (p.Thr19Ser) c.317C>G (p.Thr106Ser) c.334C>G n.475C>G | |
11 | g.17387775G>T | CA379774481 | KCNJ11 | c.89C>A (p.Thr30Asn) c.56C>A (p.Thr19Asn) c.317C>A (p.Thr106Asn) c.334C>A n.475C>A | |
11 | g.17387776T>A | CA379774489 | KCNJ11 | c.88A>T (p.Thr30Ser) c.55A>T (p.Thr19Ser) c.316A>T (p.Thr106Ser) c.333A>T n.474A>T | |
11 | g.17387776T>C | CA379774492 | KCNJ11 | c.88A>G (p.Thr30Ala) c.55A>G (p.Thr19Ala) c.316A>G (p.Thr106Ala) c.333A>G n.474A>G | |
11 | g.17387776T>G | CA379774493 | KCNJ11 | c.88A>C (p.Thr30Pro) c.55A>C (p.Thr19Pro) c.316A>C (p.Thr106Pro) c.333A>C n.474A>C | gnomAD v4 |
11 | g.17387776_17387777insCCGGGACCTCCGTG | CA2790574798 | KCNJ11 | c.87_88insCACGGAGGTCCCGG (p.Thr30HisfsTer29) c.54_55insCACGGAGGTCCCGG (p.Thr19HisfsTer29) c.315_316insCACGGAGGTCCCGG (p.Thr106HisfsTer29) c.332_333insCACGGAGGTCCCGG n.473_474insCACGGAGGTCCCGG | |
11 | g.17387777G>A | CA473515775 | KCNJ11 | c.87C>T (p.Gly29=) c.54C>T (p.Gly18=) c.315C>T (p.Gly105=) c.332C>T n.473C>T | |
11 | g.17387777G>C | CA473515776 | KCNJ11 | c.87C>G (p.Gly29=) c.54C>G (p.Gly18=) c.315C>G (p.Gly105=) c.332C>G n.473C>G | |
11 | g.17387777G>T | CA473515777 | KCNJ11 | c.87C>A (p.Gly29=) c.54C>A (p.Gly18=) c.315C>A (p.Gly105=) c.332C>A n.473C>A | |
11 | g.17387778C>A | CA379774496 | KCNJ11 | c.86G>T (p.Gly29Val) c.53G>T (p.Gly18Val) c.314G>T (p.Gly105Val) c.331G>T n.472G>T | dbSNP |
11 | g.17387778C= | CA1955119387 | KCNJ11 | c.86G= (p.Gly29=) c.53G= (p.Gly18=) c.314G= (p.Gly105=) c.331G= n.472G= | |
11 | g.17387778C>G | CA379774498 | KCNJ11 | c.86G>C (p.Gly29Ala) c.53G>C (p.Gly18Ala) c.314G>C (p.Gly105Ala) c.331G>C n.472G>C | |
11 | g.17387778C>T | CA379774501 | KCNJ11 | c.86G>A (p.Gly29Asp) c.53G>A (p.Gly18Asp) c.314G>A (p.Gly105Asp) c.331G>A n.472G>A | |
11 | g.17387779C>A | CA379774504 | KCNJ11 | c.85G>T (p.Gly29Cys) c.52G>T (p.Gly18Cys) c.313G>T (p.Gly105Cys) c.330G>T n.471G>T | |
11 | g.17387779C>G | CA379774508 | KCNJ11 | c.85G>C (p.Gly29Arg) c.52G>C (p.Gly18Arg) c.313G>C (p.Gly105Arg) c.330G>C n.471G>C | |
11 | g.17387779C>T | CA379774505 | KCNJ11 | c.85G>A (p.Gly29Ser) c.52G>A (p.Gly18Ser) c.313G>A (p.Gly105Ser) c.330G>A n.471G>A | |
11 | g.17387779_17387780insGGG | CA2790574801 | KCNJ11 | c.84_85insCCC (p.Glu28_Gly29insPro) c.51_52insCCC (p.Glu17_Gly18insPro) c.312_313insCCC (p.Glu104_Gly105insPro) c.329_330insCCC n.470_471insCCC | |
11 | g.17387780C>A | CA379774512 | KCNJ11 | c.84G>T (p.Glu28Asp) c.51G>T (p.Glu17Asp) c.312G>T (p.Glu104Asp) c.329G>T n.470G>T | |
11 | g.17387780C>G | CA379774513 | KCNJ11 | c.84G>C (p.Glu28Asp) c.51G>C (p.Glu17Asp) c.312G>C (p.Glu104Asp) c.329G>C n.470G>C | gnomAD v4 |
11 | g.17387780C>T | CA473515778 | KCNJ11 | c.84G>A (p.Glu28=) c.51G>A (p.Glu17=) c.312G>A (p.Glu104=) c.329G>A n.470G>A | |
11 | g.17387781T>A | CA379774517 | KCNJ11 | c.83A>T (p.Glu28Val) c.50A>T (p.Glu17Val) c.311A>T (p.Glu104Val) c.328A>T n.469A>T | |
11 | g.17387781T>C | CA379774519 | KCNJ11 | c.83A>G (p.Glu28Gly) c.50A>G (p.Glu17Gly) c.311A>G (p.Glu104Gly) c.328A>G n.469A>G | |
11 | g.17387781T>G | CA379774522 | KCNJ11 | c.83A>C (p.Glu28Ala) c.50A>C (p.Glu17Ala) c.311A>C (p.Glu104Ala) c.328A>C n.469A>C | |
11 | g.17387781_17387782insG | CA2790574802 | KCNJ11 | c.82_83insC (p.Glu28AlafsTer5) c.49_50insC (p.Glu17AlafsTer5) c.310_311insC (p.Glu104AlafsTer5) c.327_328insC n.468_469insC | |
11 | g.17387782C>A | CA379774529 | KCNJ11 | c.82G>T (p.Glu28Ter) c.49G>T (p.Glu17Ter) c.310G>T (p.Glu104Ter) c.327G>T n.468G>T | |
11 | g.17387782C= | CA1955119388 | KCNJ11 | c.82G= (p.Glu28=) c.49G= (p.Glu17=) c.310G= (p.Glu104=) c.327G= n.468G= | |
11 | g.17387782C>G | CA379774531 | KCNJ11 | c.82G>C (p.Glu28Gln) c.49G>C (p.Glu17Gln) c.310G>C (p.Glu104Gln) c.327G>C n.468G>C | dbSNP |
11 | g.17387782C>T | CA5902303 | KCNJ11 | c.82G>A (p.Glu28Lys) c.49G>A (p.Glu17Lys) c.310G>A (p.Glu104Lys) c.327G>A n.468G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387783G>A | CA5902304 | KCNJ11 | c.81C>T (p.Ser27=) c.48C>T (p.Ser16=) c.309C>T (p.Ser103=) c.326C>T n.467C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387783G>C | CA379774536 | KCNJ11 | c.81C>G (p.Ser27Arg) c.48C>G (p.Ser16Arg) c.309C>G (p.Ser103Arg) c.326C>G n.467C>G | |
11 | g.17387783G= | CA1955119389 | KCNJ11 | c.81C= (p.Ser27=) c.48C= (p.Ser16=) c.309C= (p.Ser103=) c.326C= n.467C= | |
11 | g.17387783G>T | CA5902305 | KCNJ11 | c.81C>A (p.Ser27Arg) c.48C>A (p.Ser16Arg) c.309C>A (p.Ser103Arg) c.326C>A n.467C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387784C>A | CA218400013 | KCNJ11 | c.80G>T (p.Ser27Ile) c.47G>T (p.Ser16Ile) c.308G>T (p.Ser103Ile) c.325G>T n.466G>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17387784C= | CA1955119390 | KCNJ11 | c.80G= (p.Ser27=) c.47G= (p.Ser16=) c.308G= (p.Ser103=) c.325G= n.466G= | |
11 | g.17387784C>G | CA379774552 | KCNJ11 | c.80G>C (p.Ser27Thr) c.47G>C (p.Ser16Thr) c.308G>C (p.Ser103Thr) c.325G>C n.466G>C | |
11 | g.17387784C>T | CA379774550 | KCNJ11 | c.80G>A (p.Ser27Asn) c.47G>A (p.Ser16Asn) c.308G>A (p.Ser103Asn) c.325G>A n.466G>A | dbSNP gnomAD v4 |
11 | g.17387785T>A | CA379774555 | KCNJ11 | c.79A>T (p.Ser27Cys) c.46A>T (p.Ser16Cys) c.307A>T (p.Ser103Cys) c.324A>T n.465A>T | |
11 | g.17387785T>C | CA379774559 | KCNJ11 | c.79A>G (p.Ser27Gly) c.46A>G (p.Ser16Gly) c.307A>G (p.Ser103Gly) c.324A>G n.465A>G | |
11 | g.17387785T>G | CA379774561 | KCNJ11 | c.79A>C (p.Ser27Arg) c.46A>C (p.Ser16Arg) c.307A>C (p.Ser103Arg) c.324A>C n.465A>C | |
11 | g.17387786G>A | CA5902306 | KCNJ11 | c.78C>T (p.Pro26=) c.45C>T (p.Pro15=) c.306C>T (p.Pro102=) c.323C>T n.464C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17387786G>C | CA473515780 | KCNJ11 | c.78C>G (p.Pro26=) c.45C>G (p.Pro15=) c.306C>G (p.Pro102=) c.323C>G n.464C>G | |
11 | g.17387786G= | CA1955119391 | KCNJ11 | c.78C= (p.Pro26=) c.45C= (p.Pro15=) c.306C= (p.Pro102=) c.323C= n.464C= | |
11 | g.17387786G>T | CA473515779 | KCNJ11 | c.78C>A (p.Pro26=) c.45C>A (p.Pro15=) c.306C>A (p.Pro102=) c.323C>A n.464C>A | dbSNP |
11 | g.17387790dup | CA2832549816 | KCNJ11 | c.78dup (p.Ser27GlnfsTer6) c.45dup (p.Ser16GlnfsTer6) c.306dup (p.Ser103GlnfsTer6) c.323dup n.464dup | |
11 | g.17387790del | CA645577918 | KCNJ11 | c.78del (p.Ser27AlafsTer27) c.45del (p.Ser16AlafsTer27) c.306del (p.Ser103AlafsTer27) c.323del n.464del | COSMIC |
11 | g.17387786_17387787insCA | CA2790574807 | KCNJ11 | c.77_78insTG (p.Ser27AlafsTer28) c.44_45insTG (p.Ser16AlafsTer28) c.305_306insTG (p.Ser103AlafsTer28) c.322_323insTG n.463_464insTG | |
11 | g.17387787G>A | CA379774570 | KCNJ11 | c.77C>T (p.Pro26Leu) c.44C>T (p.Pro15Leu) c.305C>T (p.Pro102Leu) c.322C>T n.463C>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17387787G>C | CA379774572 | KCNJ11 | c.77C>G (p.Pro26Arg) c.44C>G (p.Pro15Arg) c.305C>G (p.Pro102Arg) c.322C>G n.463C>G | gnomAD v4 |
11 | g.17387787G= | CA1955119392 | KCNJ11 | c.77C= (p.Pro26=) c.44C= (p.Pro15=) c.305C= (p.Pro102=) c.322C= n.463C= | |
11 | g.17387787G>T | CA379774576 | KCNJ11 | c.77C>A (p.Pro26His) c.44C>A (p.Pro15His) c.305C>A (p.Pro102His) c.322C>A n.463C>A | |
11 | g.17387787_17387788insCC | CA2790574808 | KCNJ11 | c.76_77insGG (p.Pro26ArgfsTer29) c.43_44insGG (p.Pro15ArgfsTer29) c.304_305insGG (p.Pro102ArgfsTer29) c.321_322insGG n.462_463insGG | |
11 | g.17387788G>A | CA379774580 | KCNJ11 | c.76C>T (p.Pro26Ser) c.43C>T (p.Pro15Ser) c.304C>T (p.Pro102Ser) c.321C>T n.462C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387788G>C | CA379774581 | KCNJ11 | c.76C>G (p.Pro26Ala) c.43C>G (p.Pro15Ala) c.304C>G (p.Pro102Ala) c.321C>G n.462C>G | |
11 | g.17387788G= | CA1955119393 | KCNJ11 | c.76C= (p.Pro26=) c.43C= (p.Pro15=) c.304C= (p.Pro102=) c.321C= n.462C= | |
11 | g.17387788G>T | CA379774582 | KCNJ11 | c.76C>A (p.Pro26Thr) c.43C>A (p.Pro15Thr) c.304C>A (p.Pro102Thr) c.321C>A n.462C>A | gnomAD v4 |
11 | g.17387789G>A | CA5902307 | KCNJ11 | c.75C>T (p.Ala25=) c.42C>T (p.Ala14=) c.303C>T (p.Ala101=) c.320C>T n.461C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17387789G>C | CA473515781 | KCNJ11 | c.75C>G (p.Ala25=) c.42C>G (p.Ala14=) c.303C>G (p.Ala101=) c.320C>G n.461C>G | |
11 | g.17387789G= | CA1955119394 | KCNJ11 | c.75C= (p.Ala25=) c.42C= (p.Ala14=) c.303C= (p.Ala101=) c.320C= n.461C= | |
11 | g.17387789G>T | CA473515782 | KCNJ11 | c.75C>A (p.Ala25=) c.42C>A (p.Ala14=) c.303C>A (p.Ala101=) c.320C>A n.461C>A | |
11 | g.17387790G>A | CA379774597 | KCNJ11 | c.74C>T (p.Ala25Val) c.41C>T (p.Ala14Val) c.302C>T (p.Ala101Val) c.319C>T n.460C>T | |
11 | g.17387790G>C | CA379774592 | KCNJ11 | c.74C>G (p.Ala25Gly) c.41C>G (p.Ala14Gly) c.302C>G (p.Ala101Gly) c.319C>G n.460C>G | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17387790G= | CA1955119395 | KCNJ11 | c.74C= (p.Ala25=) c.41C= (p.Ala14=) c.302C= (p.Ala101=) c.319C= n.460C= | |
11 | g.17387790G>T | CA218400036 | KCNJ11 | c.74C>A (p.Ala25Asp) c.41C>A (p.Ala14Asp) c.302C>A (p.Ala101Asp) c.319C>A n.460C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387790_17387791insTGCCGTGGT | CA2790574813 | KCNJ11 | c.73_74insACCACGGCA (p.Ala25delinsAspHisGlyThr) c.40_41insACCACGGCA (p.Ala14delinsAspHisGlyThr) c.301_302insACCACGGCA (p.Ala101delinsAspHisGlyThr) c.318_319insACCACGGCA n.459_460insACCACGGCA | |
11 | g.17387791C>A | CA379774603 | KCNJ11 | c.73G>T (p.Ala25Ser) c.40G>T (p.Ala14Ser) c.301G>T (p.Ala101Ser) c.318G>T n.459G>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17387791C= | CA1955119396 | KCNJ11 | c.73G= (p.Ala25=) c.40G= (p.Ala14=) c.301G= (p.Ala101=) c.318G= n.459G= | |
11 | g.17387791C>G | CA379774606 | KCNJ11 | c.73G>C (p.Ala25Pro) c.40G>C (p.Ala14Pro) c.301G>C (p.Ala101Pro) c.318G>C n.459G>C | |
11 | g.17387791C>T | CA379774610 | KCNJ11 | c.73G>A (p.Ala25Thr) c.40G>A (p.Ala14Thr) c.301G>A (p.Ala101Thr) c.318G>A n.459G>A | |
11 | g.17387792C>A | CA473515783 | KCNJ11 | c.72G>T (p.Leu24=) c.39G>T (p.Leu13=) c.300G>T (p.Leu100=) c.317G>T n.458G>T | |
11 | g.17387792C>G | CA473515784 | KCNJ11 | c.72G>C (p.Leu24=) c.39G>C (p.Leu13=) c.300G>C (p.Leu100=) c.317G>C n.458G>C | |
11 | g.17387792C>T | CA473515785 | KCNJ11 | c.72G>A (p.Leu24=) c.39G>A (p.Leu13=) c.300G>A (p.Leu100=) c.317G>A n.458G>A | |
11 | g.17387793A>C | CA379774615 | KCNJ11 | c.71T>G (p.Leu24Arg) c.38T>G (p.Leu13Arg) c.299T>G (p.Leu100Arg) c.316T>G n.457T>G | |
11 | g.17387793A>G | CA379774618 | KCNJ11 | c.71T>C (p.Leu24Pro) c.38T>C (p.Leu13Pro) c.299T>C (p.Leu100Pro) c.316T>C n.457T>C | gnomAD v4 |
11 | g.17387793A>T | CA379774623 | KCNJ11 | c.71T>A (p.Leu24Gln) c.38T>A (p.Leu13Gln) c.299T>A (p.Leu100Gln) c.316T>A n.457T>A | |
11 | g.17387793_17387794delinsAG | CA1955119397 | KCNJ11 | c.70_71delinsCT (p.Leu24=) c.37_38delinsCT (p.Leu13=) c.298_299delinsCT (p.Leu100=) c.315_316delinsCT n.456_457delinsCT | |
11 | g.17387794G>A | CA473515786 | KCNJ11 | c.70C>T (p.Leu24=) c.37C>T (p.Leu13=) c.298C>T (p.Leu100=) c.315C>T n.456C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.17387794G>C | CA379774628 | KCNJ11 | c.70C>G (p.Leu24Val) c.37C>G (p.Leu13Val) c.298C>G (p.Leu100Val) c.315C>G n.456C>G | |
11 | g.17387794G= | CA1955119398 | KCNJ11 | c.70C= (p.Leu24=) c.37C= (p.Leu13=) c.298C= (p.Leu100=) c.315C= n.456C= | |
11 | g.17387794G>T | CA379774631 | KCNJ11 | c.70C>A (p.Leu24Met) c.37C>A (p.Leu13Met) c.298C>A (p.Leu100Met) c.315C>A n.456C>A | |
11 | g.17387795del | CA5902308 | KCNJ11 | c.70del (p.Leu24TrpfsTer30) c.37del (p.Leu13TrpfsTer30) c.298del (p.Leu100TrpfsTer30) c.315del n.456del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387795G>A | CA473515787 | KCNJ11 | c.69C>T (p.Asp23=) c.36C>T (p.Asp12=) c.297C>T (p.Asp99=) c.314C>T n.455C>T | |
11 | g.17387795G>C | CA379774650 | KCNJ11 | c.69C>G (p.Asp23Glu) c.36C>G (p.Asp12Glu) c.297C>G (p.Asp99Glu) c.314C>G n.455C>G | |
11 | g.17387795G>T | CA379774653 | KCNJ11 | c.69C>A (p.Asp23Glu) c.36C>A (p.Asp12Glu) c.297C>A (p.Asp99Glu) c.314C>A n.455C>A | |
11 | g.17387796T>A | CA379774668 | KCNJ11 | c.68A>T (p.Asp23Val) c.35A>T (p.Asp12Val) c.296A>T (p.Asp99Val) c.313A>T n.454A>T | |
11 | g.17387796T>C | CA379774665 | KCNJ11 | c.68A>G (p.Asp23Gly) c.35A>G (p.Asp12Gly) c.296A>G (p.Asp99Gly) c.313A>G n.454A>G | gnomAD v4 |
11 | g.17387796T>G | CA379774659 | KCNJ11 | c.68A>C (p.Asp23Ala) c.35A>C (p.Asp12Ala) c.296A>C (p.Asp99Ala) c.313A>C n.454A>C | |
11 | g.17387797C>A | CA379774673 | KCNJ11 | c.67G>T (p.Asp23Tyr) c.34G>T (p.Asp12Tyr) c.295G>T (p.Asp99Tyr) c.312G>T n.453G>T | |
11 | g.17387797C>G | CA379774678 | KCNJ11 | c.67G>C (p.Asp23His) c.34G>C (p.Asp12His) c.295G>C (p.Asp99His) c.312G>C n.453G>C | |
11 | g.17387797C>T | CA379774680 | KCNJ11 | c.67G>A (p.Asp23Asn) c.34G>A (p.Asp12Asn) c.295G>A (p.Asp99Asn) c.312G>A n.453G>A | gnomAD v4 |
11 | g.17387798A>C | CA473515788 | KCNJ11 | c.66T>G (p.Gly22=) c.33T>G (p.Gly11=) c.294T>G (p.Gly98=) c.311T>G n.452T>G | |
11 | g.17387798A>G | CA473515789 | KCNJ11 | c.66T>C (p.Gly22=) c.33T>C (p.Gly11=) c.294T>C (p.Gly98=) c.311T>C n.452T>C | |
11 | g.17387798A>T | CA473515790 | KCNJ11 | c.66T>A (p.Gly22=) c.33T>A (p.Gly11=) c.294T>A (p.Gly98=) c.311T>A n.452T>A | |
11 | g.17387799C>A | CA379774684 | KCNJ11 | c.65G>T (p.Gly22Val) c.32G>T (p.Gly11Val) c.293G>T (p.Gly98Val) c.310G>T n.451G>T | |
11 | g.17387799C= | CA1955119399 | KCNJ11 | c.65G= (p.Gly22=) c.32G= (p.Gly11=) c.293G= (p.Gly98=) c.310G= n.451G= | |
11 | g.17387799C>G | CA379774687 | KCNJ11 | c.65G>C (p.Gly22Ala) c.32G>C (p.Gly11Ala) c.293G>C (p.Gly98Ala) c.310G>C n.451G>C | |
11 | g.17387799C>T | CA5902309 | KCNJ11 | c.65G>A (p.Gly22Asp) c.32G>A (p.Gly11Asp) c.293G>A (p.Gly98Asp) c.310G>A n.451G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17387799_17387800delinsTT | CA645577919 | KCNJ11 | c.64_65delinsAA (p.Gly22Asn) c.31_32delinsAA (p.Gly11Asn) c.292_293delinsAA (p.Gly98Asn) c.309_310delinsAA n.450_451delinsAA | COSMIC |
11 | g.17387800C>A | CA379774696 | KCNJ11 | c.64G>T (p.Gly22Cys) c.31G>T (p.Gly11Cys) c.292G>T (p.Gly98Cys) c.309G>T n.450G>T | |
11 | g.17387800C= | CA1955119400 | KCNJ11 | c.64G= (p.Gly22=) c.31G= (p.Gly11=) c.292G= (p.Gly98=) c.309G= n.450G= | |
11 | g.17387800C>G | CA379774700 | KCNJ11 | c.64G>C (p.Gly22Arg) c.31G>C (p.Gly11Arg) c.292G>C (p.Gly98Arg) c.309G>C n.450G>C | |
11 | g.17387800C>T | CA379774702 | KCNJ11 | c.64G>A (p.Gly22Ser) c.31G>A (p.Gly11Ser) c.292G>A (p.Gly98Ser) c.309G>A n.450G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.17387801G>A | CA5902310 | KCNJ11 | c.63C>T (p.His21=) c.30C>T (p.His10=) c.291C>T (p.His97=) c.308C>T n.449C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387801G>C | CA379774712 | KCNJ11 | c.63C>G (p.His21Gln) c.30C>G (p.His10Gln) c.291C>G (p.His97Gln) c.308C>G n.449C>G | |
11 | g.17387801G= | CA1955119401 | KCNJ11 | c.63C= (p.His21=) c.30C= (p.His10=) c.291C= (p.His97=) c.308C= n.449C= | |
11 | g.17387801G>T | CA5902311 | KCNJ11 | c.63C>A (p.His21Gln) c.30C>A (p.His10Gln) c.291C>A (p.His97Gln) c.308C>A n.449C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17387801dup | CA912971885 | KCNJ11 | c.63dup (p.Gly22ArgfsTer2) c.30dup (p.Gly11ArgfsTer2) c.291dup (p.Gly98ArgfsTer2) c.308dup n.449dup | |
11 | g.17387802T>A | CA379774744 | KCNJ11 | c.62A>T (p.His21Leu) c.29A>T (p.His10Leu) c.290A>T (p.His97Leu) c.307A>T n.448A>T | |
11 | g.17387802T>C | CA379774742 | KCNJ11 | c.62A>G (p.His21Arg) c.29A>G (p.His10Arg) c.290A>G (p.His97Arg) c.307A>G n.448A>G | |
11 | g.17387802T>G | CA379774738 | KCNJ11 | c.62A>C (p.His21Pro) c.29A>C (p.His10Pro) c.290A>C (p.His97Pro) c.307A>C n.448A>C | |
11 | g.17387802dup | CA658822456 | KCNJ11 | c.62dup (p.His21GlnfsTer3) c.29dup (p.His10GlnfsTer3) c.290dup (p.His97GlnfsTer3) c.307dup n.448dup | ClinVar dbSNP |
11 | g.17387803G>A | CA379774748 | KCNJ11 | c.61C>T (p.His21Tyr) c.28C>T (p.His10Tyr) c.289C>T (p.His97Tyr) c.306C>T n.447C>T | gnomAD v4 |
11 | g.17387803G>C | CA379774751 | KCNJ11 | c.61C>G (p.His21Asp) c.28C>G (p.His10Asp) c.289C>G (p.His97Asp) c.306C>G n.447C>G | |
11 | g.17387803G>T | CA379774755 | KCNJ11 | c.61C>A (p.His21Asn) c.28C>A (p.His10Asn) c.289C>A (p.His97Asn) c.306C>A n.447C>A | |
11 | g.17387804G>A | CA473515791 | KCNJ11 | c.60C>T (p.Ala20=) c.27C>T (p.Ala9=) c.288C>T (p.Ala96=) c.305C>T n.446C>T | |
11 | g.17387804G>C | CA473515792 | KCNJ11 | c.60C>G (p.Ala20=) c.27C>G (p.Ala9=) c.288C>G (p.Ala96=) c.305C>G n.446C>G | |
11 | g.17387804G>T | CA473515793 | KCNJ11 | c.60C>A (p.Ala20=) c.27C>A (p.Ala9=) c.288C>A (p.Ala96=) c.305C>A n.446C>A | |
11 | g.17387804_17387805delinsCA | CA2695213249 | KCNJ11 | c.59_60delinsTG (p.Ala20Val) c.26_27delinsTG (p.Ala9Val) c.287_288delinsTG (p.Ala96Val) c.304_305delinsTG n.445_446delinsTG | |
11 | g.17387805G>A | CA379774758 | KCNJ11 | c.59C>T (p.Ala20Val) c.26C>T (p.Ala9Val) c.287C>T (p.Ala96Val) c.304C>T n.445C>T | gnomAD v4 |
11 | g.17387805G>C | CA379774761 | KCNJ11 | c.59C>G (p.Ala20Gly) c.26C>G (p.Ala9Gly) c.287C>G (p.Ala96Gly) c.304C>G n.445C>G | |
11 | g.17387805G>T | CA379774764 | KCNJ11 | c.59C>A (p.Ala20Asp) c.26C>A (p.Ala9Asp) c.287C>A (p.Ala96Asp) c.304C>A n.445C>A | |
11 | g.17387806C>A | CA379774771 | KCNJ11 | c.58G>T (p.Ala20Ser) c.25G>T (p.Ala9Ser) c.286G>T (p.Ala96Ser) c.303G>T n.444G>T | gnomAD v4 |
11 | g.17387806C= | CA1955119402 | KCNJ11 | c.58G= (p.Ala20=) c.25G= (p.Ala9=) c.286G= (p.Ala96=) c.303G= n.444G= | |
11 | g.17387806C>G | CA379774775 | KCNJ11 | c.58G>C (p.Ala20Pro) c.25G>C (p.Ala9Pro) c.286G>C (p.Ala96Pro) c.303G>C n.444G>C | |
11 | g.17387806C>T | CA5902312 | KCNJ11 | c.58G>A (p.Ala20Thr) c.25G>A (p.Ala9Thr) c.286G>A (p.Ala96Thr) c.303G>A n.444G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17387807G>A | CA5902313 | KCNJ11 | c.57C>T (p.Phe19=) c.24C>T (p.Phe8=) c.285C>T (p.Phe95=) c.302C>T n.443C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387807G>C | CA379774782 | KCNJ11 | c.57C>G (p.Phe19Leu) c.24C>G (p.Phe8Leu) c.285C>G (p.Phe95Leu) c.302C>G n.443C>G | |
11 | g.17387807G= | CA1955119403 | KCNJ11 | c.57C= (p.Phe19=) c.24C= (p.Phe8=) c.285C= (p.Phe95=) c.302C= n.443C= | |
11 | g.17387807G>T | CA379774783 | KCNJ11 | c.57C>A (p.Phe19Leu) c.24C>A (p.Phe8Leu) c.285C>A (p.Phe95Leu) c.302C>A n.443C>A | |
11 | g.17387808A>C | CA379774794 | KCNJ11 | c.56T>G (p.Phe19Cys) c.23T>G (p.Phe8Cys) c.284T>G (p.Phe95Cys) c.301T>G n.442T>G | |
11 | g.17387808A>G | CA379774791 | KCNJ11 | c.56T>C (p.Phe19Ser) c.23T>C (p.Phe8Ser) c.284T>C (p.Phe95Ser) c.301T>C n.442T>C | |
11 | g.17387808A>T | CA379774787 | KCNJ11 | c.56T>A (p.Phe19Tyr) c.23T>A (p.Phe8Tyr) c.284T>A (p.Phe95Tyr) c.301T>A n.442T>A | |
11 | g.17387809A>C | CA379774798 | KCNJ11 | c.55T>G (p.Phe19Val) c.22T>G (p.Phe8Val) c.283T>G (p.Phe95Val) c.300T>G n.441T>G | |
11 | g.17387809A>G | CA379774801 | KCNJ11 | c.55T>C (p.Phe19Leu) c.22T>C (p.Phe8Leu) c.283T>C (p.Phe95Leu) c.300T>C n.441T>C | |
11 | g.17387809A>T | CA379774805 | KCNJ11 | c.55T>A (p.Phe19Ile) c.22T>A (p.Phe8Ile) c.283T>A (p.Phe95Ile) c.300T>A n.441T>A | |
11 | g.17387810G>A | CA473515794 | KCNJ11 | c.54C>T (p.Ala18=) c.21C>T (p.Ala7=) c.282C>T (p.Ala94=) c.299C>T n.440C>T | |
11 | g.17387810G>C | CA473515795 | KCNJ11 | c.54C>G (p.Ala18=) c.21C>G (p.Ala7=) c.282C>G (p.Ala94=) c.299C>G n.440C>G | |
11 | g.17387810G>T | CA473515796 | KCNJ11 | c.54C>A (p.Ala18=) c.21C>A (p.Ala7=) c.282C>A (p.Ala94=) c.299C>A n.440C>A | |
11 | g.17387811G>A | CA379774810 | KCNJ11 | c.53C>T (p.Ala18Val) c.20C>T (p.Ala7Val) c.281C>T (p.Ala94Val) c.298C>T n.439C>T | gnomAD v4 |
11 | g.17387811G>C | CA379774814 | KCNJ11 | c.53C>G (p.Ala18Gly) c.20C>G (p.Ala7Gly) c.281C>G (p.Ala94Gly) c.298C>G n.439C>G | |
11 | g.17387811G>T | CA379774818 | KCNJ11 | c.53C>A (p.Ala18Asp) c.20C>A (p.Ala7Asp) c.281C>A (p.Ala94Asp) c.298C>A n.439C>A | gnomAD v3 gnomAD v4 |
11 | g.17387812C>A | CA379774838 | KCNJ11 | c.52G>T (p.Ala18Ser) c.19G>T (p.Ala7Ser) c.280G>T (p.Ala94Ser) c.297G>T n.438G>T | gnomAD v4 |
11 | g.17387812C= | CA1955119404 | KCNJ11 | c.52G= (p.Ala18=) c.19G= (p.Ala7=) c.280G= (p.Ala94=) c.297G= n.438G= | |
11 | g.17387812C>G | CA379774824 | KCNJ11 | c.52G>C (p.Ala18Pro) c.19G>C (p.Ala7Pro) c.280G>C (p.Ala94Pro) c.297G>C n.438G>C | gnomAD v4 |
11 | g.17387812C>T | CA5902314 | KCNJ11 | c.52G>A (p.Ala18Thr) c.19G>A (p.Ala7Thr) c.280G>A (p.Ala94Thr) c.297G>A n.438G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17387813G>A | CA5902315 | KCNJ11 | c.51C>T (p.Ile17=) c.18C>T (p.Ile6=) c.279C>T (p.Ile93=) c.296C>T n.437C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387813G>C | CA379774846 | KCNJ11 | c.51C>G (p.Ile17Met) c.18C>G (p.Ile6Met) c.279C>G (p.Ile93Met) c.296C>G n.437C>G | |
11 | g.17387813G= | CA1955119405 | KCNJ11 | c.51C= (p.Ile17=) c.18C= (p.Ile6=) c.279C= (p.Ile93=) c.296C= n.437C= | |
11 | g.17387813G>T | CA473515797 | KCNJ11 | c.51C>A (p.Ile17=) c.18C>A (p.Ile6=) c.279C>A (p.Ile93=) c.296C>A n.437C>A | gnomAD v4 |
11 | g.17387813dup | CA2574767941 | KCNJ11 | c.51dup (p.Ala18ArgfsTer6) c.18dup (p.Ala7ArgfsTer6) c.279dup (p.Ala94ArgfsTer6) c.296dup n.437dup | ClinVar |
11 | g.17387815_17387817dup | CA2695213250 | KCNJ11 | c.49_51dup (p.Ile17_Ala18insIle) c.16_18dup (p.Ile6_Ala7insIle) c.277_279dup (p.Ile93_Ala94insIle) c.294_296dup n.435_437dup | |
11 | g.17387814A>C | CA379774850 | KCNJ11 | c.50T>G (p.Ile17Ser) c.17T>G (p.Ile6Ser) c.278T>G (p.Ile93Ser) c.295T>G n.436T>G | |
11 | g.17387814A>G | CA379774854 | KCNJ11 | c.50T>C (p.Ile17Thr) c.17T>C (p.Ile6Thr) c.278T>C (p.Ile93Thr) c.295T>C n.436T>C | |
11 | g.17387814A>T | CA379774858 | KCNJ11 | c.50T>A (p.Ile17Asn) c.17T>A (p.Ile6Asn) c.278T>A (p.Ile93Asn) c.295T>A n.436T>A | |
11 | g.17387815T>A | CA379774873 | KCNJ11 | c.49A>T (p.Ile17Phe) c.16A>T (p.Ile6Phe) c.277A>T (p.Ile93Phe) c.294A>T n.435A>T | |
11 | g.17387815T>C | CA379774866 | KCNJ11 | c.49A>G (p.Ile17Val) c.16A>G (p.Ile6Val) c.277A>G (p.Ile93Val) c.294A>G n.435A>G | |
11 | g.17387815T>G | CA379774870 | KCNJ11 | c.49A>C (p.Ile17Leu) c.16A>C (p.Ile6Leu) c.277A>C (p.Ile93Leu) c.294A>C n.435A>C | |
11 | g.17387816G>A | CA5902316 | KCNJ11 | c.48C>T (p.Leu16=) c.15C>T (p.Leu5=) c.276C>T (p.Leu92=) c.293C>T n.434C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17387816G>C | CA473515799 | KCNJ11 | c.48C>G (p.Leu16=) c.15C>G (p.Leu5=) c.276C>G (p.Leu92=) c.293C>G n.434C>G | |
11 | g.17387816G= | CA1955119406 | KCNJ11 | c.48C= (p.Leu16=) c.15C= (p.Leu5=) c.276C= (p.Leu92=) c.293C= n.434C= | |
11 | g.17387816G>T | CA473515798 | KCNJ11 | c.48C>A (p.Leu16=) c.15C>A (p.Leu5=) c.276C>A (p.Leu92=) c.293C>A n.434C>A | |
11 | g.17387817A>C | CA379774883 | KCNJ11 | c.47T>G (p.Leu16Arg) c.14T>G (p.Leu5Arg) c.275T>G (p.Leu92Arg) c.292T>G n.433T>G | |
11 | g.17387817A>G | CA379774897 | KCNJ11 | c.47T>C (p.Leu16Pro) c.14T>C (p.Leu5Pro) c.275T>C (p.Leu92Pro) c.292T>C n.433T>C | |
11 | g.17387817A>T | CA379774900 | KCNJ11 | c.47T>A (p.Leu16His) c.14T>A (p.Leu5His) c.275T>A (p.Leu92His) c.292T>A n.433T>A | |
11 | g.17387818G>A | CA379774906 | KCNJ11 | c.46C>T (p.Leu16Phe) c.13C>T (p.Leu5Phe) c.274C>T (p.Leu92Phe) c.291C>T n.432C>T | |
11 | g.17387818G>C | CA379774911 | KCNJ11 | c.46C>G (p.Leu16Val) c.13C>G (p.Leu5Val) c.274C>G (p.Leu92Val) c.291C>G n.432C>G | |
11 | g.17387818G>T | CA379774915 | KCNJ11 | c.46C>A (p.Leu16Ile) c.13C>A (p.Leu5Ile) c.274C>A (p.Leu92Ile) c.291C>A n.432C>A | |
11 | g.17387819C>A | CA379774918 | KCNJ11 | c.45G>T (p.Trp15Cys) c.12G>T (p.Trp4Cys) c.273G>T (p.Trp91Cys) c.290G>T n.431G>T | |
11 | g.17387819C>G | CA379774920 | KCNJ11 | c.45G>C (p.Trp15Cys) c.12G>C (p.Trp4Cys) c.273G>C (p.Trp91Cys) c.290G>C n.431G>C | |
11 | g.17387819C>T | CA379774922 | KCNJ11 | c.45G>A (p.Trp15Ter) c.12G>A (p.Trp4Ter) c.273G>A (p.Trp91Ter) c.290G>A n.431G>A | gnomAD v4 |
11 | g.17387820C>A | CA379774926 | KCNJ11 | c.44G>T (p.Trp15Leu) c.11G>T (p.Trp4Leu) c.272G>T (p.Trp91Leu) c.289G>T n.430G>T | |
11 | g.17387820C>G | CA379774928 | KCNJ11 | c.44G>C (p.Trp15Ser) c.11G>C (p.Trp4Ser) c.272G>C (p.Trp91Ser) c.289G>C n.430G>C | |
11 | g.17387820C>T | CA379774930 | KCNJ11 | c.44G>A (p.Trp15Ter) c.11G>A (p.Trp4Ter) c.272G>A (p.Trp91Ter) c.289G>A n.430G>A | |
11 | g.17387821A>C | CA379774934 | KCNJ11 | c.43T>G (p.Trp15Gly) c.10T>G (p.Trp4Gly) c.271T>G (p.Trp91Gly) c.288T>G n.429T>G | |
11 | g.17387821A>G | CA379774937 | KCNJ11 | c.43T>C (p.Trp15Arg) c.10T>C (p.Trp4Arg) c.271T>C (p.Trp91Arg) c.288T>C n.429T>C | ClinVar |
11 | g.17387821A>T | CA379774936 | KCNJ11 | c.43T>A (p.Trp15Arg) c.10T>A (p.Trp4Arg) c.271T>A (p.Trp91Arg) c.288T>A n.429T>A | |
11 | g.17387822C>A | CA379774938 | KCNJ11 | c.42G>T (p.Trp14Cys) c.9G>T (p.Trp3Cys) c.270G>T (p.Trp90Cys) c.287G>T n.428G>T | |
11 | g.17387822C>G | CA379774940 | KCNJ11 | c.42G>C (p.Trp14Cys) c.9G>C (p.Trp3Cys) c.270G>C (p.Trp90Cys) c.287G>C n.428G>C | |
11 | g.17387822C>T | CA379774942 | KCNJ11 | c.42G>A (p.Trp14Ter) c.9G>A (p.Trp3Ter) c.270G>A (p.Trp90Ter) c.287G>A n.428G>A | ClinVar gnomAD v4 |
11 | g.17387823C>A | CA379774946 | KCNJ11 | c.41G>T (p.Trp14Leu) c.8G>T (p.Trp3Leu) c.269G>T (p.Trp90Leu) c.286G>T n.427G>T | |
11 | g.17387823C= | CA1955119407 | KCNJ11 | c.41G= (p.Trp14=) c.8G= (p.Trp3=) c.269G= (p.Trp90=) c.286G= n.427G= | |
11 | g.17387823C>G | CA379774949 | KCNJ11 | c.41G>C (p.Trp14Ser) c.8G>C (p.Trp3Ser) c.269G>C (p.Trp90Ser) c.286G>C n.427G>C | |
11 | g.17387823C>T | CA379774952 | KCNJ11 | c.41G>A (p.Trp14Ter) c.8G>A (p.Trp3Ter) c.269G>A (p.Trp90Ter) c.286G>A n.427G>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17387824A>C | CA379774955 | KCNJ11 | c.40T>G (p.Trp14Gly) c.7T>G (p.Trp3Gly) c.268T>G (p.Trp90Gly) c.285T>G n.426T>G | |
11 | g.17387824A>G | CA379774958 | KCNJ11 | c.40T>C (p.Trp14Arg) c.7T>C (p.Trp3Arg) c.268T>C (p.Trp90Arg) c.285T>C n.426T>C | gnomAD v4 |
11 | g.17387824A>T | CA379774960 | KCNJ11 | c.40T>A (p.Trp14Arg) c.7T>A (p.Trp3Arg) c.268T>A (p.Trp90Arg) c.285T>A n.426T>A | |
11 | g.17387825G>A | CA473515800 | KCNJ11 | c.39C>T (p.Ala13=) c.6C>T (p.Ala2=) c.267C>T (p.Ala89=) c.284C>T n.425C>T | gnomAD v4 |
11 | g.17387825G>C | CA473515801 | KCNJ11 | c.39C>G (p.Ala13=) c.6C>G (p.Ala2=) c.267C>G (p.Ala89=) c.284C>G n.425C>G | |
11 | g.17387825G>T | CA473515802 | KCNJ11 | c.39C>A (p.Ala13=) c.6C>A (p.Ala2=) c.267C>A (p.Ala89=) c.284C>A n.425C>A | |
11 | g.17387826G>A | CA379774964 | KCNJ11 | c.38C>T (p.Ala13Val) c.5C>T (p.Ala2Val) c.266C>T (p.Ala89Val) c.283C>T n.424C>T | |
11 | g.17387826G>C | CA379774967 | KCNJ11 | c.38C>G (p.Ala13Gly) c.5C>G (p.Ala2Gly) c.266C>G (p.Ala89Gly) c.283C>G n.424C>G | |
11 | g.17387826G>T | CA379774970 | KCNJ11 | c.38C>A (p.Ala13Asp) c.5C>A (p.Ala2Asp) c.266C>A (p.Ala89Asp) c.283C>A n.424C>A | |
11 | g.17387827C>A | CA379774978 | KCNJ11 | c.37G>T (p.Ala13Ser) c.4G>T (p.Ala2Ser) c.265G>T (p.Ala89Ser) c.282G>T n.423G>T | |
11 | g.17387827C>G | CA379774973 | KCNJ11 | c.37G>C (p.Ala13Pro) c.4G>C (p.Ala2Pro) c.265G>C (p.Ala89Pro) c.282G>C n.423G>C | |
11 | g.17387827C>T | CA379774976 | KCNJ11 | c.37G>A (p.Ala13Thr) c.4G>A (p.Ala2Thr) c.265G>A (p.Ala89Thr) c.282G>A n.423G>A | |
11 | g.17387828C>A | CA379774980 | KCNJ11 | c.36G>T (p.Met12Ile) c.3G>T (p.Met1Ile) c.264G>T (p.Met88Ile) c.281G>T n.422G>T | ClinVar dbSNP gnomAD v4 |
11 | g.17387828C= | CA1955119408 | KCNJ11 | c.36G= (p.Met12=) c.3G= (p.Met1=) c.264G= (p.Met88=) c.281G= n.422G= | |
11 | g.17387828C>G | CA379774982 | KCNJ11 | c.36G>C (p.Met12Ile) c.3G>C (p.Met1Ile) c.264G>C (p.Met88Ile) c.281G>C n.422G>C | |
11 | g.17387828C>T | CA379774985 | KCNJ11 | c.36G>A (p.Met12Ile) c.3G>A (p.Met1Ile) c.264G>A (p.Met88Ile) c.281G>A n.422G>A | |
11 | g.17387829A>C | CA379774989 | KCNJ11 | c.35T>G (p.Met12Arg) c.2T>G (p.Met1Arg) c.263T>G (p.Met88Arg) c.280T>G n.421T>G | |
11 | g.17387829A>G | CA379774991 | KCNJ11 | c.35T>C (p.Met12Thr) c.2T>C (p.Met1Thr) c.263T>C (p.Met88Thr) c.280T>C n.421T>C | |
11 | g.17387829A>T | CA379774993 | KCNJ11 | c.35T>A (p.Met12Lys) c.2T>A (p.Met1Lys) c.263T>A (p.Met88Lys) c.280T>A n.421T>A | |
11 | g.17387830T>A | CA5902317 | KCNJ11 | c.34A>T (p.Met12Leu) c.1A>T (p.Met1Leu) c.262A>T (p.Met88Leu) c.279A>T n.420A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17387830T>C | CA379775003 | KCNJ11 | c.34A>G (p.Met12Val) c.1A>G (p.Met1Val) c.262A>G (p.Met88Val) c.279A>G n.420A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.17387830T>G | CA379775008 | KCNJ11 | c.34A>C (p.Met12Leu) c.1A>C (p.Met1Leu) c.262A>C (p.Met88Leu) c.279A>C n.420A>C | |
11 | g.17387830T= | CA1955119409 | KCNJ11 | c.34A= (p.Met12=) c.1A= (p.Met1=) c.262A= (p.Met88=) c.279A= n.420A= | |
11 | g.17387831G>A | CA473515803 | KCNJ11 | c.33C>T (p.Ala11=) c.-1C>T (n.-1C>T) c.261C>T (p.Ala87=) c.278C>T n.419C>T | |
11 | g.17387831G>C | CA473515804 | KCNJ11 | c.33C>G (p.Ala11=) c.-1C>G (n.-1C>G) c.261C>G (p.Ala87=) c.278C>G n.419C>G | |
11 | g.17387831G>T | CA473515805 | KCNJ11 | c.33C>A (p.Ala11=) c.-1C>A (n.-1C>A) c.261C>A (p.Ala87=) c.278C>A n.419C>A | |
11 | g.17387832G>A | CA379775012 | KCNJ11 | c.32C>T (p.Ala11Val) c.-2C>T (n.-2C>T) c.260C>T (p.Ala87Val) c.277C>T n.418C>T | gnomAD v4 |
11 | g.17387832G>C | CA379775015 | KCNJ11 | c.32C>G (p.Ala11Gly) c.-2C>G (n.-2C>G) c.260C>G (p.Ala87Gly) c.277C>G n.418C>G | |
11 | g.17387832G>T | CA379775018 | KCNJ11 | c.32C>A (p.Ala11Asp) c.-2C>A (n.-2C>A) c.260C>A (p.Ala87Asp) c.277C>A n.418C>A | |
11 | g.17387833C>A | CA379775025 | KCNJ11 | c.31G>T (p.Ala11Ser) c.-3G>T (n.-3G>T) c.259G>T (p.Ala87Ser) c.276G>T n.417G>T | |
11 | g.17387833C= | CA1955119410 | KCNJ11 | c.31G= (p.Ala11=) c.-3G= (n.-3G=) c.259G= (p.Ala87=) c.276G= n.417G= | |
11 | g.17387833C>G | CA379775027 | KCNJ11 | c.31G>C (p.Ala11Pro) c.-3G>C (n.-3G>C) c.259G>C (p.Ala87Pro) c.276G>C n.417G>C | dbSNP |
11 | g.17387833C>T | CA5902318 | KCNJ11 | c.31G>A (p.Ala11Thr) c.-3G>A (n.-3G>A) c.259G>A (p.Ala87Thr) c.276G>A n.417G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17387834G>A | CA5902319 | KCNJ11 | c.30C>T (p.Phe10=) c.-4C>T (n.-4C>T) c.258C>T (p.Phe86=) c.275C>T n.416C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387834G>C | CA379775032 | KCNJ11 | c.30C>G (p.Phe10Leu) c.-4C>G (n.-4C>G) c.258C>G (p.Phe86Leu) c.275C>G n.416C>G | |
11 | g.17387834G= | CA1955119411 | KCNJ11 | c.30C= (p.Phe10=) c.-4C= (n.-4C=) c.258C= (p.Phe86=) c.275C= n.416C= | |
11 | g.17387834G>T | CA379775035 | KCNJ11 | c.30C>A (p.Phe10Leu) c.-4C>A (n.-4C>A) c.258C>A (p.Phe86Leu) c.275C>A n.416C>A | |
11 | g.17387835A>C | CA379775040 | KCNJ11 | c.29T>G (p.Phe10Cys) c.-5T>G (n.-5T>G) c.257T>G (p.Phe86Cys) c.274T>G n.415T>G | |
11 | g.17387835A>G | CA379775043 | KCNJ11 | c.29T>C (p.Phe10Ser) c.-5T>C (n.-5T>C) c.257T>C (p.Phe86Ser) c.274T>C n.415T>C | |
11 | g.17387835A>T | CA379775047 | KCNJ11 | c.29T>A (p.Phe10Tyr) c.-5T>A (n.-5T>A) c.257T>A (p.Phe86Tyr) c.274T>A n.415T>A | |
11 | g.17387836A= | CA1955119412 | KCNJ11 | c.28T= (p.Phe10=) c.-6T= (n.-6T=) c.256T= (p.Phe86=) c.273T= n.414T= | |
11 | g.17387836A>C | CA379775060 | KCNJ11 | c.28T>G (p.Phe10Val) c.-6T>G (n.-6T>G) c.256T>G (p.Phe86Val) c.273T>G n.414T>G | |
11 | g.17387836A>G | CA379775058 | KCNJ11 | c.28T>C (p.Phe10Leu) c.-6T>C (n.-6T>C) c.256T>C (p.Phe86Leu) c.273T>C n.414T>C | dbSNP gnomAD v4 |
11 | g.17387836A>T | CA379775050 | KCNJ11 | c.28T>A (p.Phe10Ile) c.-6T>A (n.-6T>A) c.256T>A (p.Phe86Ile) c.273T>A n.414T>A | |
11 | g.17387837G>A | CA473515806 | KCNJ11 | c.27C>T (p.Leu9=) c.-7C>T (n.-7C>T) c.255C>T (p.Leu85=) c.272C>T n.413C>T | |
11 | g.17387837G>C | CA473515808 | KCNJ11 | c.27C>G (p.Leu9=) c.-7C>G (n.-7C>G) c.255C>G (p.Leu85=) c.272C>G n.413C>G | |
11 | g.17387837G>T | CA473515807 | KCNJ11 | c.27C>A (p.Leu9=) c.-7C>A (n.-7C>A) c.255C>A (p.Leu85=) c.272C>A n.413C>A | |
11 | g.17387838A= | CA1955119413 | KCNJ11 | c.26T= (p.Leu9=) c.-8T= (n.-8T=) c.254T= (p.Leu85=) c.271T= n.412T= | |
11 | g.17387838A>C | CA379775061 | KCNJ11 | c.26T>G (p.Leu9Arg) c.-8T>G (n.-8T>G) c.254T>G (p.Leu85Arg) c.271T>G n.412T>G | |
11 | g.17387838A>G | CA379775064 | KCNJ11 | c.26T>C (p.Leu9Pro) c.-8T>C (n.-8T>C) c.254T>C (p.Leu85Pro) c.271T>C n.412T>C | |
11 | g.17387838A>T | CA379775066 | KCNJ11 | c.26T>A (p.Leu9His) c.-8T>A (n.-8T>A) c.254T>A (p.Leu85His) c.271T>A n.412T>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17387839G>A | CA379775067 | KCNJ11 | c.25C>T (p.Leu9Phe) c.-9C>T (n.-9C>T) c.253C>T (p.Leu85Phe) c.270C>T n.411C>T | |
11 | g.17387839G>C | CA379775069 | KCNJ11 | c.25C>G (p.Leu9Val) c.-9C>G (n.-9C>G) c.253C>G (p.Leu85Val) c.270C>G n.411C>G | |
11 | g.17387839G>T | CA379775072 | KCNJ11 | c.25C>A (p.Leu9Ile) c.-9C>A (n.-9C>A) c.253C>A (p.Leu85Ile) c.270C>A n.411C>A | |
11 | g.17387840C>A | CA473515809 | KCNJ11 | c.24G>T (p.Leu8=) c.-10G>T (n.-10G>T) c.252G>T (p.Leu84=) c.269G>T n.410G>T | |
11 | g.17387840C>G | CA473515810 | KCNJ11 | c.24G>C (p.Leu8=) c.-10G>C (n.-10G>C) c.252G>C (p.Leu84=) c.269G>C n.410G>C | |
11 | g.17387840C>T | CA473515811 | KCNJ11 | c.24G>A (p.Leu8=) c.-10G>A (n.-10G>A) c.252G>A (p.Leu84=) c.269G>A n.410G>A | ClinVar dbSNP |
11 | g.17387841A>C | CA379775077 | KCNJ11 | c.23T>G (p.Leu8Arg) c.-11T>G (n.-11T>G) c.251T>G (p.Leu84Arg) c.268T>G n.409T>G | |
11 | g.17387841A>G | CA379775082 | KCNJ11 | c.23T>C (p.Leu8Pro) c.-11T>C (n.-11T>C) c.251T>C (p.Leu84Pro) c.268T>C n.409T>C | |
11 | g.17387841A>T | CA379775079 | KCNJ11 | c.23T>A (p.Leu8Gln) c.-11T>A (n.-11T>A) c.251T>A (p.Leu84Gln) c.268T>A n.409T>A | |
11 | g.17387842G>A | CA5902320 | KCNJ11 | c.22C>T (p.Leu8=) c.-12C>T (n.-12C>T) c.250C>T (p.Leu84=) c.267C>T n.408C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17387842G>C | CA379775088 | KCNJ11 | c.22C>G (p.Leu8Val) c.-12C>G (n.-12C>G) c.250C>G (p.Leu84Val) c.267C>G n.408C>G | |
11 | g.17387842G= | CA1955119414 | KCNJ11 | c.22C= (p.Leu8=) c.-12C= (n.-12C=) c.250C= (p.Leu84=) c.267C= n.408C= | |
11 | g.17387842G>T | CA379775093 | KCNJ11 | c.22C>A (p.Leu8Met) c.-12C>A (n.-12C>A) c.250C>A (p.Leu84Met) c.267C>A n.408C>A | |
11 | g.17387843C>A | CA379775096 | KCNJ11 | c.21G>T (p.Trp7Cys) c.-13G>T (n.-13G>T) c.249G>T (p.Trp83Cys) c.266G>T n.407G>T | |
11 | g.17387843C>G | CA379775099 | KCNJ11 | c.21G>C (p.Trp7Cys) c.-13G>C (n.-13G>C) c.249G>C (p.Trp83Cys) c.266G>C n.407G>C | |
11 | g.17387843C>T | CA379775101 | KCNJ11 | c.21G>A (p.Trp7Ter) c.-13G>A (n.-13G>A) c.249G>A (p.Trp83Ter) c.266G>A n.407G>A | |
11 | g.17387844C>A | CA379775104 | KCNJ11 | c.20G>T (p.Trp7Leu) c.-14G>T (n.-14G>T) c.248G>T (p.Trp83Leu) c.265G>T n.406G>T | |
11 | g.17387844C>G | CA379775108 | KCNJ11 | c.20G>C (p.Trp7Ser) c.-14G>C (n.-14G>C) c.248G>C (p.Trp83Ser) c.265G>C n.406G>C | ClinVar dbSNP gnomAD v4 |
11 | g.17387844C>T | CA379775116 | KCNJ11 | c.20G>A (p.Trp7Ter) c.-14G>A (n.-14G>A) c.248G>A (p.Trp83Ter) c.265G>A n.406G>A | |
11 | g.17387845A>C | CA379775120 | KCNJ11 | c.19T>G (p.Trp7Gly) c.-15T>G (n.-15T>G) c.247T>G (p.Trp83Gly) c.264T>G n.405T>G | |
11 | g.17387845A>G | CA379775127 | KCNJ11 | c.19T>C (p.Trp7Arg) c.-15T>C (n.-15T>C) c.247T>C (p.Trp83Arg) c.264T>C n.405T>C | |
11 | g.17387845A>T | CA379775130 | KCNJ11 | c.19T>A (p.Trp7Arg) c.-15T>A (n.-15T>A) c.247T>A (p.Trp83Arg) c.264T>A n.405T>A | |
11 | g.17387845_17387848dup | CA2695213252 | KCNJ11 | c.16_19dup (p.Trp7Ter) c.-16-2_-15dup c.244_247dup (p.Trp83Ter) c.261_264dup n.402_405dup | |
11 | g.17387846G>A | CA473515815 | KCNJ11 | c.18C>T (p.Ser6=) c.-16C>T (n.-16C>T) c.246C>T (p.Ser82=) c.263C>T n.404C>T | |
11 | g.17387846G>C | CA379775142 | KCNJ11 | c.18C>G (p.Ser6Arg) c.-16C>G (n.-16C>G) c.246C>G (p.Ser82Arg) c.263C>G n.404C>G | gnomAD v4 |
11 | g.17387846G>T | CA379775135 | KCNJ11 | c.18C>A (p.Ser6Arg) c.-16C>A (n.-16C>A) c.246C>A (p.Ser82Arg) c.263C>A n.404C>A | |
11 | g.17387847C>A | CA379775146 | KCNJ11 | c.17G>T (p.Ser6Ile) c.-16-1G>T (n.-16-1G>T) c.245G>T (p.Ser82Ile) c.262G>T n.403G>T | |
11 | g.17387847C= | CA1955119415 | KCNJ11 | c.17G= (p.Ser6=) c.-16-1G= (n.-16-1G=) c.245G= (p.Ser82=) c.262G= n.403G= | |
11 | g.17387847C>G | CA379775147 | KCNJ11 | c.17G>C (p.Ser6Thr) c.-16-1G>C (n.-16-1G>C) c.245G>C (p.Ser82Thr) c.262G>C n.403G>C | |
11 | g.17387847C>T | CA379775148 | KCNJ11 | c.17G>A (p.Ser6Asn) c.-16-1G>A (n.-16-1G>A) c.245G>A (p.Ser82Asn) c.262G>A n.403G>A | ClinVar dbSNP |
11 | g.17387847dup | CA2839582180 | KCNJ11 | c.17dup (p.Ser6ArgfsTer18) c.-16-1dup (n.-16-1dup) c.245dup (p.Ser82ArgfsTer18) c.262dup n.403dup | |
11 | g.17387848T>A | CA379775150 | KCNJ11 | c.16A>T (p.Ser6Cys) c.-16-2A>T (n.-16-2A>T) c.244A>T (p.Ser82Cys) c.261A>T n.402A>T | |
11 | g.17387848T>C | CA379775152 | KCNJ11 | c.16A>G (p.Ser6Gly) c.-16-2A>G (n.-16-2A>G) c.244A>G (p.Ser82Gly) c.261A>G n.402A>G | |
11 | g.17387848T>G | CA379775155 | KCNJ11 | c.16A>C (p.Ser6Arg) c.-16-2A>C (n.-16-2A>C) c.244A>C (p.Ser82Arg) c.261A>C n.402A>C | |
11 | g.17387849G>A | CA473515819 | KCNJ11 | c.15C>T (p.Cys5=) c.-16-3C>T (n.-16-3C>T) c.243C>T (p.Cys81=) c.260C>T n.401C>T | COSMIC |
11 | g.17387849G>C | CA379775162 | KCNJ11 | c.15C>G (p.Cys5Trp) c.-16-3C>G (n.-16-3C>G) c.243C>G (p.Cys81Trp) c.260C>G n.401C>G | |
11 | g.17387849G>T | CA379775160 | KCNJ11 | c.15C>A (p.Cys5Ter) c.-16-3C>A (n.-16-3C>A) c.243C>A (p.Cys81Ter) c.260C>A n.401C>A | |
11 | g.17387850C>A | CA379775165 | KCNJ11 | c.14G>T (p.Cys5Phe) c.-16-4G>T (n.-16-4G>T) c.242G>T (p.Cys81Phe) c.259G>T n.400G>T | |
11 | g.17387850C>G | CA379775168 | KCNJ11 | c.14G>C (p.Cys5Ser) c.-16-4G>C (n.-16-4G>C) c.242G>C (p.Cys81Ser) c.259G>C n.400G>C | |
11 | g.17387850C>T | CA379775170 | KCNJ11 | c.14G>A (p.Cys5Tyr) c.-16-4G>A (n.-16-4G>A) c.242G>A (p.Cys81Tyr) c.259G>A n.400G>A | |
11 | g.17387851A>C | CA379775176 | KCNJ11 | c.13T>G (p.Cys5Gly) c.-16-5T>G (n.-16-5T>G) c.241T>G (p.Cys81Gly) c.258T>G n.399T>G | gnomAD v4 |
11 | g.17387851A>G | CA379775177 | KCNJ11 | c.13T>C (p.Cys5Arg) c.-16-5T>C (n.-16-5T>C) c.241T>C (p.Cys81Arg) c.258T>C n.399T>C | |
11 | g.17387851A>T | CA379775178 | KCNJ11 | c.13T>A (p.Cys5Ser) c.-16-5T>A (n.-16-5T>A) c.241T>A (p.Cys81Ser) c.258T>A n.399T>A | |
11 | g.17387852del | CA2695213253 | KCNJ11 | c.12del (p.Cys5AlafsTer?) c.-16-6del (n.-16-6del) c.240del (p.Cys81AlafsTer?) c.257del n.398del | |
11 | g.17387852C>A | CA473515823 | KCNJ11 | c.12G>T (p.Leu4=) c.-16-6G>T (n.-16-6G>T) c.240G>T (p.Leu80=) c.257G>T n.398G>T | |
11 | g.17387852C>G | CA473515824 | KCNJ11 | c.12G>C (p.Leu4=) c.-16-6G>C (n.-16-6G>C) c.240G>C (p.Leu80=) c.257G>C n.398G>C | |
11 | g.17387852C>T | CA473515825 | KCNJ11 | c.12G>A (p.Leu4=) c.-16-6G>A (n.-16-6G>A) c.240G>A (p.Leu80=) c.257G>A n.398G>A |