Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.128839958A>C | CA383246224 | KCNJ1 | c.286T>G (p.Ser96Ala) c.343T>G (p.Ser115Ala) c.337T>G (p.Ser113Ala) | |
11 | g.128839958A>G | CA383246226 | KCNJ1 | c.286T>C (p.Ser96Pro) c.343T>C (p.Ser115Pro) c.337T>C (p.Ser113Pro) | |
11 | g.128839958A>T | CA383246229 | KCNJ1 | c.286T>A (p.Ser96Thr) c.343T>A (p.Ser115Thr) c.337T>A (p.Ser113Thr) | |
11 | g.128839959A>C | CA477703091 | KCNJ1 | c.285T>G (p.Pro95=) c.342T>G (p.Pro114=) c.336T>G (p.Pro112=) | |
11 | g.128839959A>G | CA477703093 | KCNJ1 | c.285T>C (p.Pro95=) c.342T>C (p.Pro114=) c.336T>C (p.Pro112=) | |
11 | g.128839959A>T | CA477703094 | KCNJ1 | c.285T>A (p.Pro95=) c.342T>A (p.Pro114=) c.336T>A (p.Pro112=) | |
11 | g.128839960G>A | CA6357541 | KCNJ1 | c.284C>T (p.Pro95Leu) c.341C>T (p.Pro114Leu) c.335C>T (p.Pro112Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.128839960G>C | CA383246232 | KCNJ1 | c.284C>G (p.Pro95Arg) c.341C>G (p.Pro114Arg) c.335C>G (p.Pro112Arg) | |
11 | g.128839960G= | CA2008251422 | KCNJ1 | c.284C= (p.Pro95=) c.341C= (p.Pro114=) c.335C= (p.Pro112=) | |
11 | g.128839960G>T | CA383246235 | KCNJ1 | c.284C>A (p.Pro95His) c.341C>A (p.Pro114His) c.335C>A (p.Pro112His) | |
11 | g.128839961G>A | CA383246239 | KCNJ1 | c.283C>T (p.Pro95Ser) c.340C>T (p.Pro114Ser) c.334C>T (p.Pro112Ser) | |
11 | g.128839961G>C | CA383246241 | KCNJ1 | c.283C>G (p.Pro95Ala) c.340C>G (p.Pro114Ala) c.334C>G (p.Pro112Ala) | |
11 | g.128839961G>T | CA383246242 | KCNJ1 | c.283C>A (p.Pro95Thr) c.340C>A (p.Pro114Thr) c.334C>A (p.Pro112Thr) | |
11 | g.128839962A>C | CA383246244 | KCNJ1 | c.282T>G (p.His94Gln) c.339T>G (p.His113Gln) c.333T>G (p.His111Gln) | |
11 | g.128839962A>G | CA477703096 | KCNJ1 | c.282T>C (p.His94=) c.339T>C (p.His113=) c.333T>C (p.His111=) | |
11 | g.128839962A>T | CA383246247 | KCNJ1 | c.282T>A (p.His94Gln) c.339T>A (p.His113Gln) c.333T>A (p.His111Gln) | |
11 | g.128839963T>A | CA383246252 | KCNJ1 | c.281A>T (p.His94Leu) c.338A>T (p.His113Leu) c.332A>T (p.His111Leu) | |
11 | g.128839963T>C | CA383246254 | KCNJ1 | c.281A>G (p.His94Arg) c.338A>G (p.His113Arg) c.332A>G (p.His111Arg) | |
11 | g.128839963T>G | CA383246257 | KCNJ1 | c.281A>C (p.His94Pro) c.338A>C (p.His113Pro) c.332A>C (p.His111Pro) | |
11 | g.128839964G>A | CA383246259 | KCNJ1 | c.280C>T (p.His94Tyr) c.337C>T (p.His113Tyr) c.331C>T (p.His111Tyr) | |
11 | g.128839964G>C | CA383246264 | KCNJ1 | c.280C>G (p.His94Asp) c.337C>G (p.His113Asp) c.331C>G (p.His111Asp) | |
11 | g.128839964G= | CA2008251427 | KCNJ1 | c.280C= (p.His94=) c.337C= (p.His113=) c.331C= (p.His111=) | |
11 | g.128839964G>T | CA383246273 | KCNJ1 | c.280C>A (p.His94Asn) c.337C>A (p.His113Asn) c.331C>A (p.His111Asn) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839965G>A | CA477703098 | KCNJ1 | c.279C>T (p.Phe93=) c.336C>T (p.Phe112=) c.330C>T (p.Phe110=) | COSMIC |
11 | g.128839965G>C | CA383246276 | KCNJ1 | c.279C>G (p.Phe93Leu) c.336C>G (p.Phe112Leu) c.330C>G (p.Phe110Leu) | |
11 | g.128839965G>T | CA383246282 | KCNJ1 | c.279C>A (p.Phe93Leu) c.336C>A (p.Phe112Leu) c.330C>A (p.Phe110Leu) | |
11 | g.128839966A>C | CA383246284 | KCNJ1 | c.278T>G (p.Phe93Cys) c.335T>G (p.Phe112Cys) c.329T>G (p.Phe110Cys) | |
11 | g.128839966A>G | CA383246294 | KCNJ1 | c.278T>C (p.Phe93Ser) c.335T>C (p.Phe112Ser) c.329T>C (p.Phe110Ser) | |
11 | g.128839966A>T | CA383246286 | KCNJ1 | c.278T>A (p.Phe93Tyr) c.335T>A (p.Phe112Tyr) c.329T>A (p.Phe110Tyr) | |
11 | g.128839967A>C | CA383246295 | KCNJ1 | c.277T>G (p.Phe93Val) c.334T>G (p.Phe112Val) c.328T>G (p.Phe110Val) | |
11 | g.128839967A>G | CA383246296 | KCNJ1 | c.277T>C (p.Phe93Leu) c.334T>C (p.Phe112Leu) c.328T>C (p.Phe110Leu) | |
11 | g.128839967A>T | CA383246298 | KCNJ1 | c.277T>A (p.Phe93Ile) c.334T>A (p.Phe112Ile) c.328T>A (p.Phe110Ile) | gnomAD v4 |
11 | g.128839968T>A | CA383246302 | KCNJ1 | c.276A>T (p.Glu92Asp) c.333A>T (p.Glu111Asp) c.327A>T (p.Glu109Asp) | |
11 | g.128839968T>C | CA477703103 | KCNJ1 | c.276A>G (p.Glu92=) c.333A>G (p.Glu111=) c.327A>G (p.Glu109=) | gnomAD v4 |
11 | g.128839968T>G | CA383246303 | KCNJ1 | c.276A>C (p.Glu92Asp) c.333A>C (p.Glu111Asp) c.327A>C (p.Glu109Asp) | |
11 | g.128839969T>A | CA383246313 | KCNJ1 | c.275A>T (p.Glu92Val) c.332A>T (p.Glu111Val) c.326A>T (p.Glu109Val) | |
11 | g.128839969T>C | CA383246319 | KCNJ1 | c.275A>G (p.Glu92Gly) c.332A>G (p.Glu111Gly) c.326A>G (p.Glu109Gly) | |
11 | g.128839969T>G | CA383246321 | KCNJ1 | c.275A>C (p.Glu92Ala) c.332A>C (p.Glu111Ala) c.326A>C (p.Glu109Ala) | |
11 | g.128839970C>A | CA383246322 | KCNJ1 | c.274G>T (p.Glu92Ter) c.331G>T (p.Glu111Ter) c.325G>T (p.Glu109Ter) | |
11 | g.128839970C>G | CA383246323 | KCNJ1 | c.274G>C (p.Glu92Gln) c.331G>C (p.Glu111Gln) c.325G>C (p.Glu109Gln) | gnomAD v4 |
11 | g.128839970C>T | CA383246326 | KCNJ1 | c.274G>A (p.Glu92Lys) c.331G>A (p.Glu111Lys) c.325G>A (p.Glu109Lys) | COSMIC |
11 | g.128839971C>A | CA477703107 | KCNJ1 | c.273G>T (p.Pro91=) c.330G>T (p.Pro110=) c.324G>T (p.Pro108=) | |
11 | g.128839971C= | CA2008251431 | KCNJ1 | c.273G= (p.Pro91=) c.330G= (p.Pro110=) c.324G= (p.Pro108=) | |
11 | g.128839971C>G | CA477703105 | KCNJ1 | c.273G>C (p.Pro91=) c.330G>C (p.Pro110=) c.324G>C (p.Pro108=) | |
11 | g.128839971C>T | CA6357542 | KCNJ1 | c.273G>A (p.Pro91=) c.330G>A (p.Pro110=) c.324G>A (p.Pro108=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839972G>A | CA6357543 | KCNJ1 | c.272C>T (p.Pro91Leu) c.329C>T (p.Pro110Leu) c.323C>T (p.Pro108Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839972G>C | CA383246345 | KCNJ1 | c.272C>G (p.Pro91Arg) c.329C>G (p.Pro110Arg) c.323C>G (p.Pro108Arg) | |
11 | g.128839972G= | CA2008251442 | KCNJ1 | c.272C= (p.Pro91=) c.329C= (p.Pro110=) c.323C= (p.Pro108=) | |
11 | g.128839972G>T | CA6357544 | KCNJ1 | c.272C>A (p.Pro91Gln) c.329C>A (p.Pro110Gln) c.323C>A (p.Pro108Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839973G>A | CA383246350 | KCNJ1 | c.271C>T (p.Pro91Ser) c.328C>T (p.Pro110Ser) c.322C>T (p.Pro108Ser) | dbSNP gnomAD v4 |
11 | g.128839973G>C | CA383246353 | KCNJ1 | c.271C>G (p.Pro91Ala) c.328C>G (p.Pro110Ala) c.322C>G (p.Pro108Ala) | |
11 | g.128839973G= | CA2008251455 | KCNJ1 | c.271C= (p.Pro91=) c.328C= (p.Pro110=) c.322C= (p.Pro108=) | |
11 | g.128839973G>T | CA383246355 | KCNJ1 | c.271C>A (p.Pro91Thr) c.328C>A (p.Pro110Thr) c.322C>A (p.Pro108Thr) | |
11 | g.128839974G>A | CA6357545 | KCNJ1 | c.270C>T (p.Leu90=) c.327C>T (p.Leu109=) c.321C>T (p.Leu107=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.128839974G>C | CA477703116 | KCNJ1 | c.270C>G (p.Leu90=) c.327C>G (p.Leu109=) c.321C>G (p.Leu107=) | |
11 | g.128839974G= | CA2008251458 | KCNJ1 | c.270C= (p.Leu90=) c.327C= (p.Leu109=) c.321C= (p.Leu107=) | |
11 | g.128839974G>T | CA477703115 | KCNJ1 | c.270C>A (p.Leu90=) c.327C>A (p.Leu109=) c.321C>A (p.Leu107=) | |
11 | g.128839975A>C | CA383246363 | KCNJ1 | c.269T>G (p.Leu90Arg) c.326T>G (p.Leu109Arg) c.320T>G (p.Leu107Arg) | |
11 | g.128839975A>G | CA383246366 | KCNJ1 | c.269T>C (p.Leu90Pro) c.326T>C (p.Leu109Pro) c.320T>C (p.Leu107Pro) | |
11 | g.128839975A>T | CA383246368 | KCNJ1 | c.269T>A (p.Leu90His) c.326T>A (p.Leu109His) c.320T>A (p.Leu107His) | |
11 | g.128839976G>A | CA383246371 | KCNJ1 | c.268C>T (p.Leu90Phe) c.325C>T (p.Leu109Phe) c.319C>T (p.Leu107Phe) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128839976G>C | CA383246374 | KCNJ1 | c.268C>G (p.Leu90Val) c.325C>G (p.Leu109Val) c.319C>G (p.Leu107Val) | |
11 | g.128839976G= | CA2008251461 | KCNJ1 | c.268C= (p.Leu90=) c.325C= (p.Leu109=) c.319C= (p.Leu107=) | |
11 | g.128839976G>T | CA6357546 | KCNJ1 | c.268C>A (p.Leu90Ile) c.325C>A (p.Leu109Ile) c.319C>A (p.Leu107Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839977G>A | CA230628913 | KCNJ1 | c.267C>T (p.Asp89=) c.324C>T (p.Asp108=) c.318C>T (p.Asp106=) | ClinVar dbSNP gnomAD v4 |
11 | g.128839977G>C | CA6357547 | KCNJ1 | c.267C>G (p.Asp89Glu) c.324C>G (p.Asp108Glu) c.318C>G (p.Asp106Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839977G= | CA2008251466 | KCNJ1 | c.267C= (p.Asp89=) c.324C= (p.Asp108=) c.318C= (p.Asp106=) | |
11 | g.128839977G>T | CA230628922 | KCNJ1 | c.267C>A (p.Asp89Glu) c.324C>A (p.Asp108Glu) c.318C>A (p.Asp106Glu) | dbSNP |
11 | g.128839978T>A | CA383246392 | KCNJ1 | c.266A>T (p.Asp89Val) c.323A>T (p.Asp108Val) c.317A>T (p.Asp106Val) | |
11 | g.128839978T>C | CA383246390 | KCNJ1 | c.266A>G (p.Asp89Gly) c.323A>G (p.Asp108Gly) c.317A>G (p.Asp106Gly) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128839978T>G | CA383246388 | KCNJ1 | c.266A>C (p.Asp89Ala) c.323A>C (p.Asp108Ala) c.317A>C (p.Asp106Ala) | |
11 | g.128839978T= | CA2008251471 | KCNJ1 | c.266A= (p.Asp89=) c.323A= (p.Asp108=) c.317A= (p.Asp106=) | |
11 | g.128839979C>A | CA383246396 | KCNJ1 | c.265G>T (p.Asp89Tyr) c.322G>T (p.Asp108Tyr) c.316G>T (p.Asp106Tyr) | |
11 | g.128839979C= | CA2008251478 | KCNJ1 | c.265G= (p.Asp89=) c.322G= (p.Asp108=) c.316G= (p.Asp106=) | |
11 | g.128839979C>G | CA120162 | KCNJ1 | c.265G>C (p.Asp89His) c.322G>C (p.Asp108His) c.316G>C (p.Asp106His) | ClinVar dbSNP |
11 | g.128839979C>T | CA383246398 | KCNJ1 | c.265G>A (p.Asp89Asn) c.322G>A (p.Asp108Asn) c.316G>A (p.Asp106Asn) | COSMIC |
11 | g.128839980T>A | CA383246404 | KCNJ1 | c.264A>T (p.Lys88Asn) c.321A>T (p.Lys107Asn) c.315A>T (p.Lys105Asn) | |
11 | g.128839980T>C | CA477703123 | KCNJ1 | c.264A>G (p.Lys88=) c.321A>G (p.Lys107=) c.315A>G (p.Lys105=) | |
11 | g.128839980T>G | CA383246406 | KCNJ1 | c.264A>C (p.Lys88Asn) c.321A>C (p.Lys107Asn) c.315A>C (p.Lys105Asn) | gnomAD v4 |
11 | g.128839981T>A | CA383246410 | KCNJ1 | c.263A>T (p.Lys88Ile) c.320A>T (p.Lys107Ile) c.314A>T (p.Lys105Ile) | |
11 | g.128839981T>C | CA383246411 | KCNJ1 | c.263A>G (p.Lys88Arg) c.320A>G (p.Lys107Arg) c.314A>G (p.Lys105Arg) | |
11 | g.128839981T>G | CA383246413 | KCNJ1 | c.263A>C (p.Lys88Thr) c.320A>C (p.Lys107Thr) c.314A>C (p.Lys105Thr) | |
11 | g.128839982T>A | CA16043357 | KCNJ1 | c.262A>T (p.Lys88Ter) c.319A>T (p.Lys107Ter) c.313A>T (p.Lys105Ter) | ClinVar dbSNP |
11 | g.128839982T>C | CA216044 | KCNJ1 | c.262A>G (p.Lys88Glu) c.319A>G (p.Lys107Glu) c.313A>G (p.Lys105Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839982T>G | CA383246421 | KCNJ1 | c.262A>C (p.Lys88Gln) c.319A>C (p.Lys107Gln) c.313A>C (p.Lys105Gln) | |
11 | g.128839982T= | CA2008251487 | KCNJ1 | c.262A= (p.Lys88=) c.319A= (p.Lys107=) c.313A= (p.Lys105=) | |
11 | g.128839983G>A | CA477703126 | KCNJ1 | c.261C>T (p.His87=) c.318C>T (p.His106=) c.312C>T (p.His104=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839983G>C | CA383246424 | KCNJ1 | c.261C>G (p.His87Gln) c.318C>G (p.His106Gln) c.312C>G (p.His104Gln) | |
11 | g.128839983G= | CA2008251494 | KCNJ1 | c.261C= (p.His87=) c.318C= (p.His106=) c.312C= (p.His104=) | |
11 | g.128839983G>T | CA383246426 | KCNJ1 | c.261C>A (p.His87Gln) c.318C>A (p.His106Gln) c.312C>A (p.His104Gln) | |
11 | g.128839984T>A | CA383246429 | KCNJ1 | c.260A>T (p.His87Leu) c.317A>T (p.His106Leu) c.311A>T (p.His104Leu) | |
11 | g.128839984T>C | CA383246433 | KCNJ1 | c.260A>G (p.His87Arg) c.317A>G (p.His106Arg) c.311A>G (p.His104Arg) | |
11 | g.128839984T>G | CA383246435 | KCNJ1 | c.260A>C (p.His87Pro) c.317A>C (p.His106Pro) c.311A>C (p.His104Pro) | |
11 | g.128839985G>A | CA383246438 | KCNJ1 | c.259C>T (p.His87Tyr) c.316C>T (p.His106Tyr) c.310C>T (p.His104Tyr) | dbSNP |
11 | g.128839985G>C | CA383246437 | KCNJ1 | c.259C>G (p.His87Asp) c.316C>G (p.His106Asp) c.310C>G (p.His104Asp) | |
11 | g.128839985G= | CA2008251498 | KCNJ1 | c.259C= (p.His87=) c.316C= (p.His106=) c.310C= (p.His104=) | |
11 | g.128839985G>T | CA383246436 | KCNJ1 | c.259C>A (p.His87Asn) c.316C>A (p.His106Asn) c.310C>A (p.His104Asn) | |
11 | g.128839986A>C | CA383246439 | KCNJ1 | c.258T>G (p.Ile86Met) c.315T>G (p.Ile105Met) c.309T>G (p.Ile103Met) | |
11 | g.128839986A>G | CA477703130 | KCNJ1 | c.258T>C (p.Ile86=) c.315T>C (p.Ile105=) c.309T>C (p.Ile103=) | |
11 | g.128839986A>T | CA477703131 | KCNJ1 | c.258T>A (p.Ile86=) c.315T>A (p.Ile105=) c.309T>A (p.Ile103=) | |
11 | g.128839987A>C | CA383246442 | KCNJ1 | c.257T>G (p.Ile86Ser) c.314T>G (p.Ile105Ser) c.308T>G (p.Ile103Ser) | |
11 | g.128839987A>G | CA383246444 | KCNJ1 | c.257T>C (p.Ile86Thr) c.314T>C (p.Ile105Thr) c.308T>C (p.Ile103Thr) | |
11 | g.128839987A>T | CA383246446 | KCNJ1 | c.257T>A (p.Ile86Asn) c.314T>A (p.Ile105Asn) c.308T>A (p.Ile103Asn) | |
11 | g.128839988T>A | CA383246450 | KCNJ1 | c.256A>T (p.Ile86Phe) c.313A>T (p.Ile105Phe) c.307A>T (p.Ile103Phe) | |
11 | g.128839988T>C | CA230628959 | KCNJ1 | c.256A>G (p.Ile86Val) c.313A>G (p.Ile105Val) c.307A>G (p.Ile103Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839988T>G | CA383246454 | KCNJ1 | c.256A>C (p.Ile86Leu) c.313A>C (p.Ile105Leu) c.307A>C (p.Ile103Leu) | |
11 | g.128839988T= | CA2008251501 | KCNJ1 | c.256A= (p.Ile86=) c.313A= (p.Ile105=) c.307A= (p.Ile103=) | |
11 | g.128839989G>A | CA477703136 | KCNJ1 | c.255C>T (p.Tyr85=) c.312C>T (p.Tyr104=) c.306C>T (p.Tyr102=) | |
11 | g.128839989G>C | CA383246457 | KCNJ1 | c.255C>G (p.Tyr85Ter) c.312C>G (p.Tyr104Ter) c.306C>G (p.Tyr102Ter) | |
11 | g.128839989G>T | CA383246459 | KCNJ1 | c.255C>A (p.Tyr85Ter) c.312C>A (p.Tyr104Ter) c.306C>A (p.Tyr102Ter) | |
11 | g.128839990T>A | CA383246463 | KCNJ1 | c.254A>T (p.Tyr85Phe) c.311A>T (p.Tyr104Phe) c.305A>T (p.Tyr102Phe) | |
11 | g.128839990T>C | CA383246465 | KCNJ1 | c.254A>G (p.Tyr85Cys) c.311A>G (p.Tyr104Cys) c.305A>G (p.Tyr102Cys) | |
11 | g.128839990T>G | CA383246467 | KCNJ1 | c.254A>C (p.Tyr85Ser) c.311A>C (p.Tyr104Ser) c.305A>C (p.Tyr102Ser) | |
11 | g.128839991A>C | CA383246475 | KCNJ1 | c.253T>G (p.Tyr85Asp) c.310T>G (p.Tyr104Asp) c.304T>G (p.Tyr102Asp) | gnomAD v4 |
11 | g.128839991A>G | CA383246472 | KCNJ1 | c.253T>C (p.Tyr85His) c.310T>C (p.Tyr104His) c.304T>C (p.Tyr102His) | |
11 | g.128839991A>T | CA383246470 | KCNJ1 | c.253T>A (p.Tyr85Asn) c.310T>A (p.Tyr104Asn) c.304T>A (p.Tyr102Asn) | |
11 | g.128839992C>A | CA477703140 | KCNJ1 | c.252G>T (p.Ala84=) c.309G>T (p.Ala103=) c.303G>T (p.Ala101=) | |
11 | g.128839992C= | CA2008251508 | KCNJ1 | c.252G= (p.Ala84=) c.309G= (p.Ala103=) c.303G= (p.Ala101=) | |
11 | g.128839992C>G | CA477703141 | KCNJ1 | c.252G>C (p.Ala84=) c.309G>C (p.Ala103=) c.303G>C (p.Ala101=) | dbSNP |
11 | g.128839992C>T | CA6357548 | KCNJ1 | c.252G>A (p.Ala84=) c.309G>A (p.Ala103=) c.303G>A (p.Ala101=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.128839993G>A | CA6357549 | KCNJ1 | c.251C>T (p.Ala84Val) c.308C>T (p.Ala103Val) c.302C>T (p.Ala101Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839993G>C | CA383246479 | KCNJ1 | c.251C>G (p.Ala84Gly) c.308C>G (p.Ala103Gly) c.302C>G (p.Ala101Gly) | |
11 | g.128839993G= | CA2008251515 | KCNJ1 | c.251C= (p.Ala84=) c.308C= (p.Ala103=) c.302C= (p.Ala101=) | |
11 | g.128839993G>T | CA383246482 | KCNJ1 | c.251C>A (p.Ala84Glu) c.308C>A (p.Ala103Glu) c.302C>A (p.Ala101Glu) | dbSNP |
11 | g.128839994C>A | CA383246485 | KCNJ1 | c.250G>T (p.Ala84Ser) c.307G>T (p.Ala103Ser) c.301G>T (p.Ala101Ser) | |
11 | g.128839994C>G | CA383246488 | KCNJ1 | c.250G>C (p.Ala84Pro) c.307G>C (p.Ala103Pro) c.301G>C (p.Ala101Pro) | |
11 | g.128839994C>T | CA383246490 | KCNJ1 | c.250G>A (p.Ala84Thr) c.307G>A (p.Ala103Thr) c.301G>A (p.Ala101Thr) | |
11 | g.128839995T>A | CA477703145 | KCNJ1 | c.249A>T (p.Val83=) c.306A>T (p.Val102=) c.300A>T (p.Val100=) | |
11 | g.128839995T>C | CA477703146 | KCNJ1 | c.249A>G (p.Val83=) c.306A>G (p.Val102=) c.300A>G (p.Val100=) | |
11 | g.128839995T>G | CA477703147 | KCNJ1 | c.249A>C (p.Val83=) c.306A>C (p.Val102=) c.300A>C (p.Val100=) | |
11 | g.128839996A= | CA2008251522 | KCNJ1 | c.248T= (p.Val83=) c.305T= (p.Val102=) c.299T= (p.Val100=) | |
11 | g.128839996A>C | CA6357550 | KCNJ1 | c.248T>G (p.Val83Gly) c.305T>G (p.Val102Gly) c.299T>G (p.Val100Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839996A>G | CA383246495 | KCNJ1 | c.248T>C (p.Val83Ala) c.305T>C (p.Val102Ala) c.299T>C (p.Val100Ala) | gnomAD v4 |
11 | g.128839996A>T | CA383246497 | KCNJ1 | c.248T>A (p.Val83Glu) c.305T>A (p.Val102Glu) c.299T>A (p.Val100Glu) | |
11 | g.128839997C>A | CA383246499 | KCNJ1 | c.247G>T (p.Val83Leu) c.304G>T (p.Val102Leu) c.298G>T (p.Val100Leu) | |
11 | g.128839997C>G | CA383246501 | KCNJ1 | c.247G>C (p.Val83Leu) c.304G>C (p.Val102Leu) c.298G>C (p.Val100Leu) | |
11 | g.128839997C>T | CA383246503 | KCNJ1 | c.247G>A (p.Val83Ile) c.304G>A (p.Val102Ile) c.298G>A (p.Val100Ile) | |
11 | g.128839998T>A | CA477703153 | KCNJ1 | c.246A>T (p.Ala82=) c.303A>T (p.Ala101=) c.297A>T (p.Ala99=) | |
11 | g.128839998T>C | CA230628973 | KCNJ1 | c.246A>G (p.Ala82=) c.303A>G (p.Ala101=) c.297A>G (p.Ala99=) | dbSNP |
11 | g.128839998T>G | CA477703155 | KCNJ1 | c.246A>C (p.Ala82=) c.303A>C (p.Ala101=) c.297A>C (p.Ala99=) | |
11 | g.128839998T= | CA2008251525 | KCNJ1 | c.246A= (p.Ala82=) c.303A= (p.Ala101=) c.297A= (p.Ala99=) | |
11 | g.128839999G>A | CA383246507 | KCNJ1 | c.245C>T (p.Ala82Val) c.302C>T (p.Ala101Val) c.296C>T (p.Ala99Val) | gnomAD v4 |
11 | g.128839999G>C | CA383246511 | KCNJ1 | c.245C>G (p.Ala82Gly) c.302C>G (p.Ala101Gly) c.296C>G (p.Ala99Gly) | |
11 | g.128839999G>T | CA383246509 | KCNJ1 | c.245C>A (p.Ala82Glu) c.302C>A (p.Ala101Glu) c.296C>A (p.Ala99Glu) | |
11 | g.128840000C>A | CA383246514 | KCNJ1 | c.244G>T (p.Ala82Ser) c.301G>T (p.Ala101Ser) c.295G>T (p.Ala99Ser) | gnomAD v4 |
11 | g.128840000C>G | CA383246516 | KCNJ1 | c.244G>C (p.Ala82Pro) c.301G>C (p.Ala101Pro) c.295G>C (p.Ala99Pro) | |
11 | g.128840000C>T | CA383246518 | KCNJ1 | c.244G>A (p.Ala82Thr) c.301G>A (p.Ala101Thr) c.295G>A (p.Ala99Thr) | gnomAD v4 |
11 | g.128840001A= | CA2008251539 | KCNJ1 | c.243T= (p.Tyr81=) c.300T= (p.Tyr100=) c.294T= (p.Tyr98=) | |
11 | g.128840001A>C | CA383246520 | KCNJ1 | c.243T>G (p.Tyr81Ter) c.300T>G (p.Tyr100Ter) c.294T>G (p.Tyr98Ter) | gnomAD v4 |
11 | g.128840001A>G | CA477703158 | KCNJ1 | c.243T>C (p.Tyr81=) c.300T>C (p.Tyr100=) c.294T>C (p.Tyr98=) | dbSNP |
11 | g.128840001A>T | CA383246523 | KCNJ1 | c.243T>A (p.Tyr81Ter) c.300T>A (p.Tyr100Ter) c.294T>A (p.Tyr98Ter) | |
11 | g.128840002T>A | CA383246526 | KCNJ1 | c.242A>T (p.Tyr81Phe) c.299A>T (p.Tyr100Phe) c.293A>T (p.Tyr98Phe) | |
11 | g.128840002T>C | CA216041 | KCNJ1 | c.242A>G (p.Tyr81Cys) c.299A>G (p.Tyr100Cys) c.293A>G (p.Tyr98Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128840002T>G | CA383246530 | KCNJ1 | c.242A>C (p.Tyr81Ser) c.299A>C (p.Tyr100Ser) c.293A>C (p.Tyr98Ser) | |
11 | g.128840002T= | CA2008251547 | KCNJ1 | c.242A= (p.Tyr81=) c.299A= (p.Tyr100=) c.293A= (p.Tyr98=) | |
11 | g.128840002_128840004delinsAAG | CA2825002003 | KCNJ1 | c.240_242delinsCTT (p.Trp80_Tyr81delinsCysPhe) c.297_299delinsCTT (p.Trp99_Tyr100delinsCysPhe) c.291_293delinsCTT (p.Trp97_Tyr98delinsCysPhe) | ClinVar |
11 | g.128840003A>C | CA383246535 | KCNJ1 | c.241T>G (p.Tyr81Asp) c.298T>G (p.Tyr100Asp) c.292T>G (p.Tyr98Asp) | |
11 | g.128840003A>G | CA383246538 | KCNJ1 | c.241T>C (p.Tyr81His) c.298T>C (p.Tyr100His) c.292T>C (p.Tyr98His) | ClinVar |
11 | g.128840003A>T | CA383246540 | KCNJ1 | c.241T>A (p.Tyr81Asn) c.298T>A (p.Tyr100Asn) c.292T>A (p.Tyr98Asn) | |
11 | g.128840004C>A | CA383246548 | KCNJ1 | c.240G>T (p.Trp80Cys) c.297G>T (p.Trp99Cys) c.291G>T (p.Trp97Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128840004C= | CA2008251552 | KCNJ1 | c.240G= (p.Trp80=) c.297G= (p.Trp99=) c.291G= (p.Trp97=) | |
11 | g.128840004C>G | CA383246546 | KCNJ1 | c.240G>C (p.Trp80Cys) c.297G>C (p.Trp99Cys) c.291G>C (p.Trp97Cys) | |
11 | g.128840004C>T | CA383246545 | KCNJ1 | c.240G>A (p.Trp80Ter) c.297G>A (p.Trp99Ter) c.291G>A (p.Trp97Ter) | ClinVar gnomAD v4 |
11 | g.128840005C>A | CA383246552 | KCNJ1 | c.239G>T (p.Trp80Leu) c.296G>T (p.Trp99Leu) c.290G>T (p.Trp97Leu) | |
11 | g.128840005C= | CA2008251557 | KCNJ1 | c.239G= (p.Trp80=) c.296G= (p.Trp99=) c.290G= (p.Trp97=) | |
11 | g.128840005C>G | CA383246551 | KCNJ1 | c.239G>C (p.Trp80Ser) c.296G>C (p.Trp99Ser) c.290G>C (p.Trp97Ser) | |
11 | g.128840005C>T | CA230628976 | KCNJ1 | c.239G>A (p.Trp80Ter) c.296G>A (p.Trp99Ter) c.290G>A (p.Trp97Ter) | dbSNP gnomAD v4 |
11 | g.128840006A= | CA2008251560 | KCNJ1 | c.238T= (p.Trp80=) c.295T= (p.Trp99=) c.289T= (p.Trp97=) | |
11 | g.128840006A>C | CA383246558 | KCNJ1 | c.238T>G (p.Trp80Gly) c.295T>G (p.Trp99Gly) c.289T>G (p.Trp97Gly) | |
11 | g.128840006A>G | CA6357551 | KCNJ1 | c.238T>C (p.Trp80Arg) c.295T>C (p.Trp99Arg) c.289T>C (p.Trp97Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128840006A>T | CA383246562 | KCNJ1 | c.238T>A (p.Trp80Arg) c.295T>A (p.Trp99Arg) c.289T>A (p.Trp97Arg) | |
11 | g.128840007C>A | CA477703165 | KCNJ1 | c.237G>T (p.Leu79=) c.294G>T (p.Leu98=) c.288G>T (p.Leu96=) | gnomAD v4 |
11 | g.128840007C>G | CA477703166 | KCNJ1 | c.237G>C (p.Leu79=) c.294G>C (p.Leu98=) c.288G>C (p.Leu96=) | |
11 | g.128840007C>T | CA477703167 | KCNJ1 | c.237G>A (p.Leu79=) c.294G>A (p.Leu98=) c.288G>A (p.Leu96=) | |
11 | g.128840008A>C | CA383246566 | KCNJ1 | c.236T>G (p.Leu79Arg) c.293T>G (p.Leu98Arg) c.287T>G (p.Leu96Arg) | |
11 | g.128840008A>G | CA383246569 | KCNJ1 | c.236T>C (p.Leu79Pro) c.293T>C (p.Leu98Pro) c.287T>C (p.Leu96Pro) | |
11 | g.128840008A>T | CA383246572 | KCNJ1 | c.236T>A (p.Leu79Gln) c.293T>A (p.Leu98Gln) c.287T>A (p.Leu96Gln) | |
11 | g.128840009G>A | CA477703168 | KCNJ1 | c.235C>T (p.Leu79=) c.292C>T (p.Leu98=) c.286C>T (p.Leu96=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128840009G>C | CA383246578 | KCNJ1 | c.235C>G (p.Leu79Val) c.292C>G (p.Leu98Val) c.286C>G (p.Leu96Val) | |
11 | g.128840009G= | CA2008251564 | KCNJ1 | c.235C= (p.Leu79=) c.292C= (p.Leu98=) c.286C= (p.Leu96=) | |
11 | g.128840009G>T | CA383246575 | KCNJ1 | c.235C>A (p.Leu79Met) c.292C>A (p.Leu98Met) c.286C>A (p.Leu96Met) | |
11 | g.128840010G>A | CA477703171 | KCNJ1 | c.234C>T (p.Leu78=) c.291C>T (p.Leu97=) c.285C>T (p.Leu95=) | COSMIC |
11 | g.128840010G>C | CA477703172 | KCNJ1 | c.234C>G (p.Leu78=) c.291C>G (p.Leu97=) c.285C>G (p.Leu95=) | |
11 | g.128840010G>T | CA477703169 | KCNJ1 | c.234C>A (p.Leu78=) c.291C>A (p.Leu97=) c.285C>A (p.Leu95=) | |
11 | g.128840011A>C | CA383246581 | KCNJ1 | c.233T>G (p.Leu78Arg) c.290T>G (p.Leu97Arg) c.284T>G (p.Leu95Arg) | |
11 | g.128840011A>G | CA383246584 | KCNJ1 | c.233T>C (p.Leu78Pro) c.290T>C (p.Leu97Pro) c.284T>C (p.Leu95Pro) | |
11 | g.128840011A>T | CA383246586 | KCNJ1 | c.233T>A (p.Leu78His) c.290T>A (p.Leu97His) c.284T>A (p.Leu95His) | |
11 | g.128840012G>A | CA383246589 | KCNJ1 | c.232C>T (p.Leu78Phe) c.289C>T (p.Leu97Phe) c.283C>T (p.Leu95Phe) | gnomAD v4 |
11 | g.128840012G>C | CA383246591 | KCNJ1 | c.232C>G (p.Leu78Val) c.289C>G (p.Leu97Val) c.283C>G (p.Leu95Val) | dbSNP |
11 | g.128840012G= | CA2008251567 | KCNJ1 | c.232C= (p.Leu78=) c.289C= (p.Leu97=) c.283C= (p.Leu95=) | |
11 | g.128840012G>T | CA383246593 | KCNJ1 | c.232C>A (p.Leu78Ile) c.289C>A (p.Leu97Ile) c.283C>A (p.Leu95Ile) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128840013A>C | CA477703179 | KCNJ1 | c.231T>G (p.Gly77=) c.288T>G (p.Gly96=) c.282T>G (p.Gly94=) | |
11 | g.128840013A>G | CA477703177 | KCNJ1 | c.231T>C (p.Gly77=) c.288T>C (p.Gly96=) c.282T>C (p.Gly94=) | |
11 | g.128840013A>T | CA477703178 | KCNJ1 | c.231T>A (p.Gly77=) c.288T>A (p.Gly96=) c.282T>A (p.Gly94=) | gnomAD v4 |
11 | g.128840014C>A | CA383246597 | KCNJ1 | c.230G>T (p.Gly77Val) c.287G>T (p.Gly96Val) c.281G>T (p.Gly94Val) | |
11 | g.128840014C= | CA2008251577 | KCNJ1 | c.230G= (p.Gly77=) c.287G= (p.Gly96=) c.281G= (p.Gly94=) | |
11 | g.128840014C>G | CA383246602 | KCNJ1 | c.230G>C (p.Gly77Ala) c.287G>C (p.Gly96Ala) c.281G>C (p.Gly94Ala) | |
11 | g.128840014C>T | CA383246599 | KCNJ1 | c.230G>A (p.Gly77Asp) c.287G>A (p.Gly96Asp) c.281G>A (p.Gly94Asp) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128840015C>A | CA383246605 | KCNJ1 | c.229G>T (p.Gly77Cys) c.286G>T (p.Gly96Cys) c.280G>T (p.Gly94Cys) | |
11 | g.128840015C>G | CA383246612 | KCNJ1 | c.229G>C (p.Gly77Arg) c.286G>C (p.Gly96Arg) c.280G>C (p.Gly94Arg) | |
11 | g.128840015C>T | CA383246616 | KCNJ1 | c.229G>A (p.Gly77Ser) c.286G>A (p.Gly96Ser) c.280G>A (p.Gly94Ser) | |
11 | g.128840016A>C | CA383246619 | KCNJ1 | c.228T>G (p.Phe76Leu) c.285T>G (p.Phe95Leu) c.279T>G (p.Phe93Leu) | |
11 | g.128840016A>G | CA477703183 | KCNJ1 | c.228T>C (p.Phe76=) c.285T>C (p.Phe95=) c.279T>C (p.Phe93=) | |
11 | g.128840016A>T | CA383246622 | KCNJ1 | c.228T>A (p.Phe76Leu) c.285T>A (p.Phe95Leu) c.279T>A (p.Phe93Leu) | |
11 | g.128840017A>C | CA383246625 | KCNJ1 | c.227T>G (p.Phe76Cys) c.284T>G (p.Phe95Cys) c.278T>G (p.Phe93Cys) | |
11 | g.128840017A>G | CA383246628 | KCNJ1 | c.227T>C (p.Phe76Ser) c.284T>C (p.Phe95Ser) c.278T>C (p.Phe93Ser) | gnomAD v4 |
11 | g.128840017A>T | CA383246630 | KCNJ1 | c.227T>A (p.Phe76Tyr) c.284T>A (p.Phe95Tyr) c.278T>A (p.Phe93Tyr) | |
11 | g.128840018A= | CA2008251580 | KCNJ1 | c.226T= (p.Phe76=) c.283T= (p.Phe95=) c.277T= (p.Phe93=) | |
11 | g.128840018A>C | CA383246634 | KCNJ1 | c.226T>G (p.Phe76Val) c.283T>G (p.Phe95Val) c.277T>G (p.Phe93Val) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128840018A>G | CA383246637 | KCNJ1 | c.226T>C (p.Phe76Leu) c.283T>C (p.Phe95Leu) c.277T>C (p.Phe93Leu) | |
11 | g.128840018A>T | CA383246639 | KCNJ1 | c.226T>A (p.Phe76Ile) c.283T>A (p.Phe95Ile) c.277T>A (p.Phe93Ile) | |
11 | g.128840019G>A | CA477703187 | KCNJ1 | c.225C>T (p.Phe75=) c.282C>T (p.Phe94=) c.276C>T (p.Phe92=) | ClinVar |
11 | g.128840019G>C | CA383246641 | KCNJ1 | c.225C>G (p.Phe75Leu) c.282C>G (p.Phe94Leu) c.276C>G (p.Phe92Leu) | |
11 | g.128840019G>T | CA383246644 | KCNJ1 | c.225C>A (p.Phe75Leu) c.282C>A (p.Phe94Leu) c.276C>A (p.Phe92Leu) | |
11 | g.128840020A= | CA2008251583 | KCNJ1 | c.224T= (p.Phe75=) c.281T= (p.Phe94=) c.275T= (p.Phe92=) | |
11 | g.128840020A>C | CA383246648 | KCNJ1 | c.224T>G (p.Phe75Cys) c.281T>G (p.Phe94Cys) c.275T>G (p.Phe92Cys) | |
11 | g.128840020A>G | CA230629000 | KCNJ1 | c.224T>C (p.Phe75Ser) c.281T>C (p.Phe94Ser) c.275T>C (p.Phe92Ser) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128840020A>T | CA383246651 | KCNJ1 | c.224T>A (p.Phe75Tyr) c.281T>A (p.Phe94Tyr) c.275T>A (p.Phe92Tyr) | |
11 | g.128840021A>C | CA383246654 | KCNJ1 | c.223T>G (p.Phe75Val) c.280T>G (p.Phe94Val) c.274T>G (p.Phe92Val) | |
11 | g.128840021A>G | CA383246656 | KCNJ1 | c.223T>C (p.Phe75Leu) c.280T>C (p.Phe94Leu) c.274T>C (p.Phe92Leu) | |
11 | g.128840021A>T | CA383246657 | KCNJ1 | c.223T>A (p.Phe75Ile) c.280T>A (p.Phe94Ile) c.274T>A (p.Phe92Ile) | |
11 | g.128840022A>C | CA383246661 | KCNJ1 | c.222T>G (p.Phe74Leu) c.279T>G (p.Phe93Leu) c.273T>G (p.Phe91Leu) | |
11 | g.128840022A>G | CA477703190 | KCNJ1 | c.222T>C (p.Phe74=) c.279T>C (p.Phe93=) c.273T>C (p.Phe91=) | |
11 | g.128840022A>T | CA383246659 | KCNJ1 | c.222T>A (p.Phe74Leu) c.279T>A (p.Phe93Leu) c.273T>A (p.Phe91Leu) | |
11 | g.128840023A= | CA2008251588 | KCNJ1 | c.221T= (p.Phe74=) c.278T= (p.Phe93=) c.272T= (p.Phe91=) | |
11 | g.128840023A>C | CA383246663 | KCNJ1 | c.221T>G (p.Phe74Cys) c.278T>G (p.Phe93Cys) c.272T>G (p.Phe91Cys) | |
11 | g.128840023A>G | CA383246665 | KCNJ1 | c.221T>C (p.Phe74Ser) c.278T>C (p.Phe93Ser) c.272T>C (p.Phe91Ser) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128840023A>T | CA383246666 | KCNJ1 | c.221T>A (p.Phe74Tyr) c.278T>A (p.Phe93Tyr) c.272T>A (p.Phe91Tyr) | |
11 | g.128840024A= | CA2008251593 | KCNJ1 | c.220T= (p.Phe74=) c.277T= (p.Phe93=) c.271T= (p.Phe91=) | |
11 | g.128840024A>C | CA6357552 | KCNJ1 | c.220T>G (p.Phe74Val) c.277T>G (p.Phe93Val) c.271T>G (p.Phe91Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128840024A>G | CA383246670 | KCNJ1 | c.220T>C (p.Phe74Leu) c.277T>C (p.Phe93Leu) c.271T>C (p.Phe91Leu) | |
11 | g.128840024A>T | CA383246672 | KCNJ1 | c.220T>A (p.Phe74Ile) c.277T>A (p.Phe93Ile) c.271T>A (p.Phe91Ile) | |
11 | g.128840025C>A | CA383246675 | KCNJ1 | c.219G>T (p.Trp73Cys) c.276G>T (p.Trp92Cys) c.270G>T (p.Trp90Cys) | |
11 | g.128840025C= | CA2008251598 | KCNJ1 | c.219G= (p.Trp73=) c.276G= (p.Trp92=) c.270G= (p.Trp90=) | |
11 | g.128840025C>G | CA383246679 | KCNJ1 | c.219G>C (p.Trp73Cys) c.276G>C (p.Trp92Cys) c.270G>C (p.Trp90Cys) | |
11 | g.128840025C>T | CA383246677 | KCNJ1 | c.219G>A (p.Trp73Ter) c.276G>A (p.Trp92Ter) c.270G>A (p.Trp90Ter) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128840026C>A | CA383246681 | KCNJ1 | c.218G>T (p.Trp73Leu) c.275G>T (p.Trp92Leu) c.269G>T (p.Trp90Leu) | |
11 | g.128840026C>G | CA383246683 | KCNJ1 | c.218G>C (p.Trp73Ser) c.275G>C (p.Trp92Ser) c.269G>C (p.Trp90Ser) | |
11 | g.128840026C>T | CA383246685 | KCNJ1 | c.218G>A (p.Trp73Ter) c.275G>A (p.Trp92Ter) c.269G>A (p.Trp90Ter) | gnomAD v4 |
11 | g.128840027A>C | CA383246687 | KCNJ1 | c.217T>G (p.Trp73Gly) c.274T>G (p.Trp92Gly) c.268T>G (p.Trp90Gly) | |
11 | g.128840027A>G | CA383246689 | KCNJ1 | c.217T>C (p.Trp73Arg) c.274T>C (p.Trp92Arg) c.268T>C (p.Trp90Arg) | |
11 | g.128840027A>T | CA383246691 | KCNJ1 | c.217T>A (p.Trp73Arg) c.274T>A (p.Trp92Arg) c.268T>A (p.Trp90Arg) | |
11 | g.128840028A>C | CA383246693 | KCNJ1 | c.216T>G (p.Ser72Arg) c.273T>G (p.Ser91Arg) c.267T>G (p.Ser89Arg) | |
11 | g.128840028A>G | CA477703200 | KCNJ1 | c.216T>C (p.Ser72=) c.273T>C (p.Ser91=) c.267T>C (p.Ser89=) | gnomAD v4 |
11 | g.128840028A>T | CA383246695 | KCNJ1 | c.216T>A (p.Ser72Arg) c.273T>A (p.Ser91Arg) c.267T>A (p.Ser89Arg) | |
11 | g.128840029C>A | CA383246697 | KCNJ1 | c.215G>T (p.Ser72Ile) c.272G>T (p.Ser91Ile) c.266G>T (p.Ser89Ile) | |
11 | g.128840029C= | CA2008251600 | KCNJ1 | c.215G= (p.Ser72=) c.272G= (p.Ser91=) c.266G= (p.Ser89=) | |
11 | g.128840029C>G | CA230629005 | KCNJ1 | c.215G>C (p.Ser72Thr) c.272G>C (p.Ser91Thr) c.266G>C (p.Ser89Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128840029C>T | CA383246699 | KCNJ1 | c.215G>A (p.Ser72Asn) c.272G>A (p.Ser91Asn) c.266G>A (p.Ser89Asn) | |
11 | g.128840030T>A | CA383246705 | KCNJ1 | c.214A>T (p.Ser72Cys) c.271A>T (p.Ser91Cys) c.265A>T (p.Ser89Cys) | |
11 | g.128840030T>C | CA383246702 | KCNJ1 | c.214A>G (p.Ser72Gly) c.271A>G (p.Ser91Gly) c.265A>G (p.Ser89Gly) | |
11 | g.128840030T>G | CA383246701 | KCNJ1 | c.214A>C (p.Ser72Arg) c.271A>C (p.Ser91Arg) c.265A>C (p.Ser89Arg) | |
11 | g.128840031C>A | CA477703206 | KCNJ1 | c.213G>T (p.Gly71=) c.270G>T (p.Gly90=) c.264G>T (p.Gly88=) | |
11 | g.128840031C>G | CA477703208 | KCNJ1 | c.213G>C (p.Gly71=) c.270G>C (p.Gly90=) c.264G>C (p.Gly88=) | |
11 | g.128840031C>T | CA477703207 | KCNJ1 | c.213G>A (p.Gly71=) c.270G>A (p.Gly90=) c.264G>A (p.Gly88=) | |
11 | g.128840034del | CA2695215889 | KCNJ1 | c.213del (p.Ser72ValfsTer12) c.270del (p.Ser91ValfsTer12) c.264del (p.Ser89ValfsTer12) | |
11 | g.128840032C>A | CA383246707 | KCNJ1 | c.212G>T (p.Gly71Val) c.269G>T (p.Gly90Val) c.263G>T (p.Gly88Val) | |
11 | g.128840032C>G | CA383246709 | KCNJ1 | c.212G>C (p.Gly71Ala) c.269G>C (p.Gly90Ala) c.263G>C (p.Gly88Ala) | |
11 | g.128840032C>T | CA383246710 | KCNJ1 | c.212G>A (p.Gly71Glu) c.269G>A (p.Gly90Glu) c.263G>A (p.Gly88Glu) | gnomAD v4 |
11 | g.128840033C>A | CA383246713 | KCNJ1 | c.211G>T (p.Gly71Trp) c.268G>T (p.Gly90Trp) c.262G>T (p.Gly88Trp) | ClinVar gnomAD v4 |
11 | g.128840033C= | CA2008251604 | KCNJ1 | c.211G= (p.Gly71=) c.268G= (p.Gly90=) c.262G= (p.Gly88=) | |
11 | g.128840033C>G | CA383246715 | KCNJ1 | c.211G>C (p.Gly71Arg) c.268G>C (p.Gly90Arg) c.262G>C (p.Gly88Arg) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128840033C>T | CA383246716 | KCNJ1 | c.211G>A (p.Gly71Arg) c.268G>A (p.Gly90Arg) c.262G>A (p.Gly88Arg) | |
11 | g.128840034C>A | CA383246720 | KCNJ1 | c.210G>T (p.Leu70Phe) c.267G>T (p.Leu89Phe) c.261G>T (p.Leu87Phe) | |
11 | g.128840034C>G | CA383246721 | KCNJ1 | c.210G>C (p.Leu70Phe) c.267G>C (p.Leu89Phe) c.261G>C (p.Leu87Phe) | |
11 | g.128840034C>T | CA477703215 | KCNJ1 | c.210G>A (p.Leu70=) c.267G>A (p.Leu89=) c.261G>A (p.Leu87=) | ClinVar gnomAD v4 |
11 | g.128840035A>C | CA383246724 | KCNJ1 | c.209T>G (p.Leu70Trp) c.266T>G (p.Leu89Trp) c.260T>G (p.Leu87Trp) | |
11 | g.128840035A>G | CA383246728 | KCNJ1 | c.209T>C (p.Leu70Ser) c.266T>C (p.Leu89Ser) c.260T>C (p.Leu87Ser) | |
11 | g.128840035A>T | CA383246726 | KCNJ1 | c.209T>A (p.Leu70Ter) c.266T>A (p.Leu89Ter) c.260T>A (p.Leu87Ter) | |
11 | g.128840036A= | CA2008251609 | KCNJ1 | c.208T= (p.Leu70=) c.265T= (p.Leu89=) c.259T= (p.Leu87=) | |
11 | g.128840036A>C | CA383246730 | KCNJ1 | c.208T>G (p.Leu70Val) c.265T>G (p.Leu89Val) c.259T>G (p.Leu87Val) | |
11 | g.128840036A>G | CA477703219 | KCNJ1 | c.208T>C (p.Leu70=) c.265T>C (p.Leu89=) c.259T>C (p.Leu87=) | dbSNP gnomAD v4 |
11 | g.128840036A>T | CA383246731 | KCNJ1 | c.208T>A (p.Leu70Met) c.265T>A (p.Leu89Met) c.259T>A (p.Leu87Met) | |
11 | g.128840037G>A | CA477703220 | KCNJ1 | c.207C>T (p.Phe69=) c.264C>T (p.Phe88=) c.258C>T (p.Phe86=) | |
11 | g.128840037G>C | CA383246734 | KCNJ1 | c.207C>G (p.Phe69Leu) c.264C>G (p.Phe88Leu) c.258C>G (p.Phe86Leu) | |
11 | g.128840037G>T | CA383246736 | KCNJ1 | c.207C>A (p.Phe69Leu) c.264C>A (p.Phe88Leu) c.258C>A (p.Phe86Leu) | |
11 | g.128840038A= | CA2008251615 | KCNJ1 | c.206T= (p.Phe69=) c.263T= (p.Phe88=) c.257T= (p.Phe86=) | |
11 | g.128840038A>C | CA230629018 | KCNJ1 | c.206T>G (p.Phe69Cys) c.263T>G (p.Phe88Cys) c.257T>G (p.Phe86Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128840038A>G | CA383246739 | KCNJ1 | c.206T>C (p.Phe69Ser) c.263T>C (p.Phe88Ser) c.257T>C (p.Phe86Ser) | |
11 | g.128840038A>T | CA383246741 | KCNJ1 | c.206T>A (p.Phe69Tyr) c.263T>A (p.Phe88Tyr) c.257T>A (p.Phe86Tyr) | |
11 | g.128840039A>C | CA383246745 | KCNJ1 | c.205T>G (p.Phe69Val) c.262T>G (p.Phe88Val) c.256T>G (p.Phe86Val) | |
11 | g.128840039A>G | CA383246747 | KCNJ1 | c.205T>C (p.Phe69Leu) c.262T>C (p.Phe88Leu) c.256T>C (p.Phe86Leu) | |
11 | g.128840039A>T | CA383246749 | KCNJ1 | c.205T>A (p.Phe69Ile) c.262T>A (p.Phe88Ile) c.256T>A (p.Phe86Ile) | |
11 | g.128840040G>A | CA477703225 | KCNJ1 | c.204C>T (p.Ala68=) c.261C>T (p.Ala87=) c.255C>T (p.Ala85=) | ClinVar |
11 | g.128840040G>C | CA477703227 | KCNJ1 | c.204C>G (p.Ala68=) c.261C>G (p.Ala87=) c.255C>G (p.Ala85=) | |
11 | g.128840040G>T | CA477703226 | KCNJ1 | c.204C>A (p.Ala68=) c.261C>A (p.Ala87=) c.255C>A (p.Ala85=) | |
11 | g.128840041G>A | CA383246751 | KCNJ1 | c.203C>T (p.Ala68Val) c.260C>T (p.Ala87Val) c.254C>T (p.Ala85Val) | dbSNP gnomAD v4 |
11 | g.128840041G>C | CA383246752 | KCNJ1 | c.203C>G (p.Ala68Gly) c.260C>G (p.Ala87Gly) c.254C>G (p.Ala85Gly) | |
11 | g.128840041G= | CA2008251620 | KCNJ1 | c.203C= (p.Ala68=) c.260C= (p.Ala87=) c.254C= (p.Ala85=) | |
11 | g.128840041G>T | CA383246754 | KCNJ1 | c.203C>A (p.Ala68Asp) c.260C>A (p.Ala87Asp) c.254C>A (p.Ala85Asp) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128840042C>A | CA383246759 | KCNJ1 | c.202G>T (p.Ala68Ser) c.259G>T (p.Ala87Ser) c.253G>T (p.Ala85Ser) | COSMIC |
11 | g.128840042C>G | CA383246761 | KCNJ1 | c.202G>C (p.Ala68Pro) c.259G>C (p.Ala87Pro) c.253G>C (p.Ala85Pro) | |
11 | g.128840042C>T | CA383246763 | KCNJ1 | c.202G>A (p.Ala68Thr) c.259G>A (p.Ala87Thr) c.253G>A (p.Ala85Thr) | gnomAD v4 |
11 | g.128840043T>A | CA477703266 | KCNJ1 | c.201A>T (p.Thr67=) c.258A>T (p.Thr86=) c.252A>T (p.Thr84=) | |
11 | g.128840043T>C | CA6357553 | KCNJ1 | c.201A>G (p.Thr67=) c.258A>G (p.Thr86=) c.252A>G (p.Thr84=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128840043T>G | CA477703267 | KCNJ1 | c.201A>C (p.Thr67=) c.258A>C (p.Thr86=) c.252A>C (p.Thr84=) | ClinVar |
11 | g.128840043T= | CA2008251623 | KCNJ1 | c.201A= (p.Thr67=) c.258A= (p.Thr86=) c.252A= (p.Thr84=) | |
11 | g.128840044G>A | CA383246767 | KCNJ1 | c.200C>T (p.Thr67Ile) c.257C>T (p.Thr86Ile) c.251C>T (p.Thr84Ile) | |
11 | g.128840044G>C | CA383246772 | KCNJ1 | c.200C>G (p.Thr67Arg) c.257C>G (p.Thr86Arg) c.251C>G (p.Thr84Arg) | |
11 | g.128840044G>T | CA383246774 | KCNJ1 | c.200C>A (p.Thr67Lys) c.257C>A (p.Thr86Lys) c.251C>A (p.Thr84Lys) | |
11 | g.128840045T>A | CA383246790 | KCNJ1 | c.199A>T (p.Thr67Ser) c.256A>T (p.Thr86Ser) c.250A>T (p.Thr84Ser) | |
11 | g.128840045T>C | CA6357554 | KCNJ1 | c.199A>G (p.Thr67Ala) c.256A>G (p.Thr86Ala) c.250A>G (p.Thr84Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128840045T>G | CA383246789 | KCNJ1 | c.199A>C (p.Thr67Pro) c.256A>C (p.Thr86Pro) c.250A>C (p.Thr84Pro) | |
11 | g.128840045T= | CA2008251630 | KCNJ1 | c.199A= (p.Thr67=) c.256A= (p.Thr86=) c.250A= (p.Thr84=) | |
11 | g.128840046G>A | CA477703271 | KCNJ1 | c.198C>T (p.Ile66=) c.255C>T (p.Ile85=) c.249C>T (p.Ile83=) | |
11 | g.128840046G>C | CA383246792 | KCNJ1 | c.198C>G (p.Ile66Met) c.255C>G (p.Ile85Met) c.249C>G (p.Ile83Met) | |
11 | g.128840046G>T | CA477703272 | KCNJ1 | c.198C>A (p.Ile66=) c.255C>A (p.Ile85=) c.249C>A (p.Ile83=) | |
11 | g.128840047A= | CA2008251633 | KCNJ1 | c.197T= (p.Ile66=) c.254T= (p.Ile85=) c.248T= (p.Ile83=) | |
11 | g.128840047A>C | CA383246794 | KCNJ1 | c.197T>G (p.Ile66Ser) c.254T>G (p.Ile85Ser) c.248T>G (p.Ile83Ser) | |
11 | g.128840047A>G | CA383246796 | KCNJ1 | c.197T>C (p.Ile66Thr) c.254T>C (p.Ile85Thr) c.248T>C (p.Ile83Thr) | |
11 | g.128840047A>T | CA6357555 | KCNJ1 | c.197T>A (p.Ile66Asn) c.254T>A (p.Ile85Asn) c.248T>A (p.Ile83Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128840048T>A | CA383246797 | KCNJ1 | c.196A>T (p.Ile66Phe) c.253A>T (p.Ile85Phe) c.247A>T (p.Ile83Phe) | |
11 | g.128840048T>C | CA383246799 | KCNJ1 | c.196A>G (p.Ile66Val) c.253A>G (p.Ile85Val) c.247A>G (p.Ile83Val) | |
11 | g.128840048T>G | CA383246800 | KCNJ1 | c.196A>C (p.Ile66Leu) c.253A>C (p.Ile85Leu) c.247A>C (p.Ile83Leu) | gnomAD v4 |
11 | g.128840049G>A | CA477703278 | KCNJ1 | c.195C>T (p.Phe65=) c.252C>T (p.Phe84=) c.246C>T (p.Phe82=) | gnomAD v4 |
11 | g.128840049G>C | CA383246802 | KCNJ1 | c.195C>G (p.Phe65Leu) c.252C>G (p.Phe84Leu) c.246C>G (p.Phe82Leu) | |
11 | g.128840049G>T | CA383246804 | KCNJ1 | c.195C>A (p.Phe65Leu) c.252C>A (p.Phe84Leu) c.246C>A (p.Phe82Leu) | |
11 | g.128840049_128840050delinsGA | CA2008251640 | KCNJ1 | c.194_195delinsTC (p.Phe65=) c.251_252delinsTC (p.Phe84=) c.245_246delinsTC (p.Phe82=) | |
11 | g.128840050A>C | CA383246806 | KCNJ1 | c.194T>G (p.Phe65Cys) c.251T>G (p.Phe84Cys) c.245T>G (p.Phe82Cys) | |
11 | g.128840050A>G | CA383246808 | KCNJ1 | c.194T>C (p.Phe65Ser) c.251T>C (p.Phe84Ser) c.245T>C (p.Phe82Ser) | |
11 | g.128840050A>T | CA383246810 | KCNJ1 | c.194T>A (p.Phe65Tyr) c.251T>A (p.Phe84Tyr) c.245T>A (p.Phe82Tyr) | |
11 | g.128840053del | CA673267458 | KCNJ1 | c.194del (p.Phe65SerfsTer19) c.251del (p.Phe84SerfsTer19) c.245del (p.Phe82SerfsTer19) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.128840051A>C | CA383246812 | KCNJ1 | c.193T>G (p.Phe65Val) c.250T>G (p.Phe84Val) c.244T>G (p.Phe82Val) | |
11 | g.128840051A>G | CA383246814 | KCNJ1 | c.193T>C (p.Phe65Leu) c.250T>C (p.Phe84Leu) c.244T>C (p.Phe82Leu) | |
11 | g.128840051A>T | CA383246816 | KCNJ1 | c.193T>A (p.Phe65Ile) c.250T>A (p.Phe84Ile) c.244T>A (p.Phe82Ile) | |
11 | g.128840052A>C | CA383246818 | KCNJ1 | c.192T>G (p.Ile64Met) c.249T>G (p.Ile83Met) c.243T>G (p.Ile81Met) | |
11 | g.128840052A>G | CA477703283 | KCNJ1 | c.192T>C (p.Ile64=) c.249T>C (p.Ile83=) c.243T>C (p.Ile81=) | |
11 | g.128840052A>T | CA477703284 | KCNJ1 | c.192T>A (p.Ile64=) c.249T>A (p.Ile83=) c.243T>A (p.Ile81=) | |
11 | g.128840053A>C | CA383246821 | KCNJ1 | c.191T>G (p.Ile64Ser) c.248T>G (p.Ile83Ser) c.242T>G (p.Ile81Ser) | |
11 | g.128840053A>G | CA383246824 | KCNJ1 | c.191T>C (p.Ile64Thr) c.248T>C (p.Ile83Thr) c.242T>C (p.Ile81Thr) | |
11 | g.128840053A>T | CA383246826 | KCNJ1 | c.191T>A (p.Ile64Asn) c.248T>A (p.Ile83Asn) c.242T>A (p.Ile81Asn) | |
11 | g.128840054T>A | CA383246828 | KCNJ1 | c.190A>T (p.Ile64Phe) c.247A>T (p.Ile83Phe) c.241A>T (p.Ile81Phe) | gnomAD v4 |
11 | g.128840054T>C | CA383246830 | KCNJ1 | c.190A>G (p.Ile64Val) c.247A>G (p.Ile83Val) c.241A>G (p.Ile81Val) | |
11 | g.128840054T>G | CA383246832 | KCNJ1 | c.190A>C (p.Ile64Leu) c.247A>C (p.Ile83Leu) c.241A>C (p.Ile81Leu) | |
11 | g.128840055G>A | CA477703293 | KCNJ1 | c.189C>T (p.Thr63=) c.246C>T (p.Thr82=) c.240C>T (p.Thr80=) | gnomAD v4 |
11 | g.128840055G>C | CA6357556 | KCNJ1 | c.189C>G (p.Thr63=) c.246C>G (p.Thr82=) c.240C>G (p.Thr80=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128840055G= | CA2008251651 | KCNJ1 | c.189C= (p.Thr63=) c.246C= (p.Thr82=) c.240C= (p.Thr80=) | |
11 | g.128840055G>T | CA477703292 | KCNJ1 | c.189C>A (p.Thr63=) c.246C>A (p.Thr82=) c.240C>A (p.Thr80=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128840056G>A | CA230629028 | KCNJ1 | c.188C>T (p.Thr63Ile) c.245C>T (p.Thr82Ile) c.239C>T (p.Thr80Ile) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128840056G>C | CA383246837 | KCNJ1 | c.188C>G (p.Thr63Ser) c.245C>G (p.Thr82Ser) c.239C>G (p.Thr80Ser) | |
11 | g.128840056G= | CA2008251654 | KCNJ1 | c.188C= (p.Thr63=) c.245C= (p.Thr82=) c.239C= (p.Thr80=) | |
11 | g.128840056G>T | CA383246840 | KCNJ1 | c.188C>A (p.Thr63Asn) c.245C>A (p.Thr82Asn) c.239C>A (p.Thr80Asn) | |
11 | g.128840057T>A | CA383246843 | KCNJ1 | c.187A>T (p.Thr63Ser) c.244A>T (p.Thr82Ser) c.238A>T (p.Thr80Ser) | dbSNP gnomAD v4 |
11 | g.128840057T>C | CA383246846 | KCNJ1 | c.187A>G (p.Thr63Ala) c.244A>G (p.Thr82Ala) c.238A>G (p.Thr80Ala) | |
11 | g.128840057T>G | CA383246849 | KCNJ1 | c.187A>C (p.Thr63Pro) c.244A>C (p.Thr82Pro) c.238A>C (p.Thr80Pro) | dbSNP |
11 | g.128840058C>A | CA383246851 | KCNJ1 | c.186G>T (p.Met62Ile) c.243G>T (p.Met81Ile) c.237G>T (p.Met79Ile) | |
11 | g.128840058C>G | CA383246854 | KCNJ1 | c.186G>C (p.Met62Ile) c.243G>C (p.Met81Ile) c.237G>C (p.Met79Ile) | |
11 | g.128840058C>T | CA383246853 | KCNJ1 | c.186G>A (p.Met62Ile) c.243G>A (p.Met81Ile) c.237G>A (p.Met79Ile) |