Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.17387619A= | CA1955119332 | KCNJ11 | c.212T= (p.Met71=) c.473T= (p.Met158=) n.631T= | |
11 | g.17387619A>C | CA379773426 | KCNJ11 | c.212T>G (p.Met71Arg) c.473T>G (p.Met158Arg) n.631T>G | |
11 | g.17387619A>G | CA379773430 | KCNJ11 | c.212T>C (p.Met71Thr) c.473T>C (p.Met158Thr) n.631T>C | dbSNP gnomAD v4 |
11 | g.17387619A>T | CA379773433 | KCNJ11 | c.212T>A (p.Met71Lys) c.473T>A (p.Met158Lys) n.631T>A | |
11 | g.17387620T>A | CA379773437 | KCNJ11 | c.211A>T (p.Met71Leu) c.472A>T (p.Met158Leu) n.630A>T | ClinVar dbSNP |
11 | g.17387620T>C | CA379773438 | KCNJ11 | c.211A>G (p.Met71Val) c.472A>G (p.Met158Val) n.630A>G | ClinVar dbSNP gnomAD v4 |
11 | g.17387620T>G | CA379773439 | KCNJ11 | c.211A>C (p.Met71Leu) c.472A>C (p.Met158Leu) n.630A>C | |
11 | g.17387620T= | CA1955119333 | KCNJ11 | c.211A= (p.Met71=) c.472A= (p.Met158=) n.630A= | |
11 | g.17387621G>A | CA218399891 | KCNJ11 | c.210C>T (p.Leu70=) c.471C>T (p.Leu157=) n.629C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387621G>C | CA473515532 | KCNJ11 | c.210C>G (p.Leu70=) c.471C>G (p.Leu157=) n.629C>G | |
11 | g.17387621G= | CA1955119334 | KCNJ11 | c.210C= (p.Leu70=) c.471C= (p.Leu157=) n.629C= | |
11 | g.17387621G>T | CA473515531 | KCNJ11 | c.210C>A (p.Leu70=) c.471C>A (p.Leu157=) n.629C>A | |
11 | g.17387622A>C | CA379773445 | KCNJ11 | c.209T>G (p.Leu70Arg) c.470T>G (p.Leu157Arg) n.628T>G | |
11 | g.17387622A>G | CA379773450 | KCNJ11 | c.209T>C (p.Leu70Pro) c.470T>C (p.Leu157Pro) n.628T>C | |
11 | g.17387622A>T | CA379773455 | KCNJ11 | c.209T>A (p.Leu70His) c.470T>A (p.Leu157His) n.628T>A | |
11 | g.17387623G>A | CA379773460 | KCNJ11 | c.208C>T (p.Leu70Phe) c.469C>T (p.Leu157Phe) n.627C>T | |
11 | g.17387623G>C | CA379773463 | KCNJ11 | c.208C>G (p.Leu70Val) c.469C>G (p.Leu157Val) n.627C>G | |
11 | g.17387623G>T | CA379773466 | KCNJ11 | c.208C>A (p.Leu70Ile) c.469C>A (p.Leu157Ile) n.627C>A | |
11 | g.17387624C>A | CA473515533 | KCNJ11 | c.207G>T (p.Gly69=) c.468G>T (p.Gly156=) n.626G>T | |
11 | g.17387624C= | CA1955119335 | KCNJ11 | c.207G= (p.Gly69=) c.468G= (p.Gly156=) n.626G= | |
11 | g.17387624C>G | CA473515534 | KCNJ11 | c.207G>C (p.Gly69=) c.468G>C (p.Gly156=) n.626G>C | |
11 | g.17387624C>T | CA218399893 | KCNJ11 | c.207G>A (p.Gly69=) c.468G>A (p.Gly156=) n.626G>A | dbSNP |
11 | g.17387627del | CA2840305421 | KCNJ11 | c.207del (p.Leu70SerfsTer2) c.468del (p.Leu157SerfsTer2) n.626del | |
11 | g.17387625C>A | CA379773495 | KCNJ11 | c.206G>T (p.Gly69Val) c.467G>T (p.Gly156Val) n.625G>T | |
11 | g.17387625C>G | CA379773483 | KCNJ11 | c.206G>C (p.Gly69Ala) c.467G>C (p.Gly156Ala) n.625G>C | |
11 | g.17387625C>T | CA379773478 | KCNJ11 | c.206G>A (p.Gly69Glu) c.467G>A (p.Gly156Glu) n.625G>A | |
11 | g.17387626C>A | CA379773505 | KCNJ11 | c.205G>T (p.Gly69Trp) c.466G>T (p.Gly156Trp) n.624G>T | |
11 | g.17387626C= | CA1955119336 | KCNJ11 | c.205G= (p.Gly69=) c.466G= (p.Gly156=) n.624G= | |
11 | g.17387626C>G | CA379773513 | KCNJ11 | c.205G>C (p.Gly69Arg) c.466G>C (p.Gly156Arg) n.624G>C | |
11 | g.17387626C>T | CA379773518 | KCNJ11 | c.205G>A (p.Gly69Arg) c.466G>A (p.Gly156Arg) n.624G>A | ClinVar dbSNP gnomAD v2 |
11 | g.17387627C>A | CA473515535 | KCNJ11 | c.204G>T (p.Val68=) c.465G>T (p.Val155=) n.623G>T | |
11 | g.17387627C>G | CA473515536 | KCNJ11 | c.204G>C (p.Val68=) c.465G>C (p.Val155=) n.623G>C | |
11 | g.17387627C>T | CA473515537 | KCNJ11 | c.204G>A (p.Val68=) c.465G>A (p.Val155=) n.623G>A | |
11 | g.17387628A>C | CA379773519 | KCNJ11 | c.203T>G (p.Val68Gly) c.464T>G (p.Val155Gly) n.622T>G | |
11 | g.17387628A>G | CA379773520 | KCNJ11 | c.203T>C (p.Val68Ala) c.464T>C (p.Val155Ala) n.622T>C | |
11 | g.17387628A>T | CA379773521 | KCNJ11 | c.203T>A (p.Val68Glu) c.464T>A (p.Val155Glu) n.622T>A | |
11 | g.17387629C>A | CA379773523 | KCNJ11 | c.202G>T (p.Val68Leu) c.463G>T (p.Val155Leu) n.621G>T | gnomAD v4 |
11 | g.17387629C= | CA1955119337 | KCNJ11 | c.202G= (p.Val68=) c.463G= (p.Val155=) n.621G= | |
11 | g.17387629C>G | CA379773524 | KCNJ11 | c.202G>C (p.Val68Leu) c.463G>C (p.Val155Leu) n.621G>C | |
11 | g.17387629C>T | CA172326 | KCNJ11 | c.202G>A (p.Val68Met) c.463G>A (p.Val155Met) n.621G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.17387630G>A | CA218399904 | KCNJ11 | c.201C>T (p.Ile67=) c.462C>T (p.Ile154=) n.620C>T | ClinVar dbSNP gnomAD v4 |
11 | g.17387630G>C | CA379773531 | KCNJ11 | c.201C>G (p.Ile67Met) c.462C>G (p.Ile154Met) n.620C>G | |
11 | g.17387630G= | CA1955119338 | KCNJ11 | c.201C= (p.Ile67=) c.462C= (p.Ile154=) n.620C= | |
11 | g.17387630G>T | CA473515538 | KCNJ11 | c.201C>A (p.Ile67=) c.462C>A (p.Ile154=) n.620C>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17387631A>C | CA379773535 | KCNJ11 | c.200T>G (p.Ile67Ser) c.461T>G (p.Ile154Ser) n.619T>G | |
11 | g.17387631A>G | CA379773537 | KCNJ11 | c.200T>C (p.Ile67Thr) c.461T>C (p.Ile154Thr) n.619T>C | |
11 | g.17387631A>T | CA379773539 | KCNJ11 | c.200T>A (p.Ile67Asn) c.461T>A (p.Ile154Asn) n.619T>A | |
11 | g.17387632T>A | CA379773545 | KCNJ11 | c.199A>T (p.Ile67Phe) c.460A>T (p.Ile154Phe) n.618A>T | |
11 | g.17387632T>C | CA379773549 | KCNJ11 | c.199A>G (p.Ile67Val) c.460A>G (p.Ile154Val) n.618A>G | dbSNP gnomAD v4 |
11 | g.17387632T>G | CA379773542 | KCNJ11 | c.199A>C (p.Ile67Leu) c.460A>C (p.Ile154Leu) n.618A>C | |
11 | g.17387633G>A | CA473515539 | KCNJ11 | c.198C>T (p.Asn66=) c.459C>T (p.Asn153=) n.617C>T | ClinVar dbSNP gnomAD v4 |
11 | g.17387633G>C | CA379773551 | KCNJ11 | c.198C>G (p.Asn66Lys) c.459C>G (p.Asn153Lys) n.617C>G | |
11 | g.17387633G= | CA1955119339 | KCNJ11 | c.198C= (p.Asn66=) c.459C= (p.Asn153=) n.617C= | |
11 | g.17387633G>T | CA379773552 | KCNJ11 | c.198C>A (p.Asn66Lys) c.459C>A (p.Asn153Lys) n.617C>A | |
11 | g.17387634T>A | CA379773555 | KCNJ11 | c.197A>T (p.Asn66Ile) c.458A>T (p.Asn153Ile) n.616A>T | |
11 | g.17387634T>C | CA379773558 | KCNJ11 | c.197A>G (p.Asn66Ser) c.458A>G (p.Asn153Ser) n.616A>G | |
11 | g.17387634T>G | CA379773559 | KCNJ11 | c.197A>C (p.Asn66Thr) c.458A>C (p.Asn153Thr) n.616A>C | |
11 | g.17387635T>A | CA379773561 | KCNJ11 | c.196A>T (p.Asn66Tyr) c.457A>T (p.Asn153Tyr) n.615A>T | |
11 | g.17387635T>C | CA379773563 | KCNJ11 | c.196A>G (p.Asn66Asp) c.457A>G (p.Asn153Asp) n.615A>G | |
11 | g.17387635T>G | CA379773565 | KCNJ11 | c.196A>C (p.Asn66His) c.457A>C (p.Asn153His) n.615A>C | |
11 | g.17387636C>A | CA379773569 | KCNJ11 | c.195G>T (p.Gln65His) c.456G>T (p.Gln152His) n.614G>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17387636C= | CA1955119340 | KCNJ11 | c.195G= (p.Gln65=) c.456G= (p.Gln152=) n.614G= | |
11 | g.17387636C>G | CA379773570 | KCNJ11 | c.195G>C (p.Gln65His) c.456G>C (p.Gln152His) n.614G>C | |
11 | g.17387636C>T | CA473515540 | KCNJ11 | c.195G>A (p.Gln65=) c.456G>A (p.Gln152=) n.614G>A | |
11 | g.17387637T>A | CA379773571 | KCNJ11 | c.194A>T (p.Gln65Leu) c.455A>T (p.Gln152Leu) n.613A>T | |
11 | g.17387637T>C | CA379773574 | KCNJ11 | c.194A>G (p.Gln65Arg) c.455A>G (p.Gln152Arg) n.613A>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17387637T>G | CA379773578 | KCNJ11 | c.194A>C (p.Gln65Pro) c.455A>C (p.Gln152Pro) n.613A>C | |
11 | g.17387637T= | CA1955119341 | KCNJ11 | c.194A= (p.Gln65=) c.455A= (p.Gln152=) n.613A= | |
11 | g.17387638G>A | CA379773587 | KCNJ11 | c.193C>T (p.Gln65Ter) c.454C>T (p.Gln152Ter) n.612C>T | |
11 | g.17387638G>C | CA379773584 | KCNJ11 | c.193C>G (p.Gln65Glu) c.454C>G (p.Gln152Glu) n.612C>G | |
11 | g.17387638G>T | CA379773585 | KCNJ11 | c.193C>A (p.Gln65Lys) c.454C>A (p.Gln152Lys) n.612C>A | |
11 | g.17387639C>A | CA473515541 | KCNJ11 | c.192G>T (p.Val64=) c.453G>T (p.Val151=) n.611G>T | |
11 | g.17387639C>G | CA473515542 | KCNJ11 | c.192G>C (p.Val64=) c.453G>C (p.Val151=) n.611G>C | |
11 | g.17387639C>T | CA473515543 | KCNJ11 | c.192G>A (p.Val64=) c.453G>A (p.Val151=) n.611G>A | |
11 | g.17387640A>C | CA379773595 | KCNJ11 | c.191T>G (p.Val64Gly) c.452T>G (p.Val151Gly) n.610T>G | |
11 | g.17387640A>G | CA379773598 | KCNJ11 | c.191T>C (p.Val64Ala) c.452T>C (p.Val151Ala) n.610T>C | gnomAD v4 |
11 | g.17387640A>T | CA379773602 | KCNJ11 | c.191T>A (p.Val64Glu) c.452T>A (p.Val151Glu) n.610T>A | |
11 | g.17387641C>A | CA379773603 | KCNJ11 | c.190G>T (p.Val64Leu) c.451G>T (p.Val151Leu) n.609G>T | |
11 | g.17387641C= | CA1955119342 | KCNJ11 | c.190G= (p.Val64=) c.451G= (p.Val151=) n.609G= | |
11 | g.17387641C>G | CA379773606 | KCNJ11 | c.190G>C (p.Val64Leu) c.451G>C (p.Val151Leu) n.609G>C | |
11 | g.17387641C>T | CA5902288 | KCNJ11 | c.190G>A (p.Val64Met) c.451G>A (p.Val151Met) n.609G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.17387642G>A | CA5902289 | KCNJ11 | c.189C>T (p.Ile63=) c.450C>T (p.Ile150=) n.608C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387642G>C | CA379773624 | KCNJ11 | c.189C>G (p.Ile63Met) c.450C>G (p.Ile150Met) n.608C>G | |
11 | g.17387642G= | CA1955119343 | KCNJ11 | c.189C= (p.Ile63=) c.450C= (p.Ile150=) n.608C= | |
11 | g.17387642G>T | CA473515544 | KCNJ11 | c.189C>A (p.Ile63=) c.450C>A (p.Ile150=) n.608C>A | |
11 | g.17387643A= | CA1955119344 | KCNJ11 | c.221T= c.188T= (p.Ile63=) c.449T= (p.Ile150=) c.466T= n.607T= | |
11 | g.17387643A>C | CA379773628 | KCNJ11 | c.221T>G c.188T>G (p.Ile63Ser) c.449T>G (p.Ile150Ser) c.466T>G n.607T>G | |
11 | g.17387643A>G | CA379773630 | KCNJ11 | c.221T>C c.188T>C (p.Ile63Thr) c.449T>C (p.Ile150Thr) c.466T>C n.607T>C | dbSNP |
11 | g.17387643A>T | CA379773633 | KCNJ11 | c.221T>A c.188T>A (p.Ile63Asn) c.449T>A (p.Ile150Asn) c.466T>A n.607T>A | |
11 | g.17387644_17387652dup | CA2561859217 | KCNJ11 | c.180_188dup (p.Leu62_Ile63insMetIleLeu) c.441_449dup (p.Leu149_Ile150insMetIleLeu) n.599_607dup | |
11 | g.17387644T>A | CA379773639 | KCNJ11 | c.220A>T c.187A>T (p.Ile63Phe) c.448A>T (p.Ile150Phe) c.465A>T n.606A>T | |
11 | g.17387644T>C | CA379773641 | KCNJ11 | c.220A>G c.187A>G (p.Ile63Val) c.448A>G (p.Ile150Val) c.465A>G n.606A>G | gnomAD v4 |
11 | g.17387644T>G | CA379773640 | KCNJ11 | c.220A>C c.187A>C (p.Ile63Leu) c.448A>C (p.Ile150Leu) c.465A>C n.606A>C | |
11 | g.17387645G>A | CA5902290 | KCNJ11 | c.219C>T (p.Leu73=) c.186C>T (p.Leu62=) c.447C>T (p.Leu149=) c.464C>T n.605C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17387645G>C | CA473515545 | KCNJ11 | c.219C>G (p.Leu73=) c.186C>G (p.Leu62=) c.447C>G (p.Leu149=) c.464C>G n.605C>G | |
11 | g.17387645G= | CA1955119345 | KCNJ11 | c.219C= (p.Leu73=) c.186C= (p.Leu62=) c.447C= (p.Leu149=) c.464C= n.605C= | |
11 | g.17387645G>T | CA473515546 | KCNJ11 | c.219C>A (p.Leu73=) c.186C>A (p.Leu62=) c.447C>A (p.Leu149=) c.464C>A n.605C>A | |
11 | g.17387646A>C | CA379773647 | KCNJ11 | c.218T>G (p.Leu73Arg) c.185T>G (p.Leu62Arg) c.446T>G (p.Leu149Arg) c.463T>G n.604T>G | |
11 | g.17387646A>G | CA379773660 | KCNJ11 | c.218T>C (p.Leu73Pro) c.185T>C (p.Leu62Pro) c.446T>C (p.Leu149Pro) c.463T>C n.604T>C | gnomAD v4 |
11 | g.17387646A>T | CA379773665 | KCNJ11 | c.218T>A (p.Leu73His) c.185T>A (p.Leu62His) c.446T>A (p.Leu149His) c.463T>A n.604T>A | |
11 | g.17387647G>A | CA379773668 | KCNJ11 | c.217C>T (p.Leu73Phe) c.184C>T (p.Leu62Phe) c.445C>T (p.Leu149Phe) c.462C>T n.603C>T | |
11 | g.17387647G>C | CA379773671 | KCNJ11 | c.217C>G (p.Leu73Val) c.184C>G (p.Leu62Val) c.445C>G (p.Leu149Val) c.462C>G n.603C>G | |
11 | g.17387647G>T | CA379773675 | KCNJ11 | c.217C>A (p.Leu73Ile) c.184C>A (p.Leu62Ile) c.445C>A (p.Leu149Ile) c.462C>A n.603C>A | |
11 | g.17387648G>A | CA473515547 | KCNJ11 | c.216C>T (p.Ile72=) c.183C>T (p.Ile61=) c.444C>T (p.Ile148=) c.461C>T n.602C>T | gnomAD v4 |
11 | g.17387648G>C | CA379773680 | KCNJ11 | c.216C>G (p.Ile72Met) c.183C>G (p.Ile61Met) c.444C>G (p.Ile148Met) c.461C>G n.602C>G | |
11 | g.17387648G>T | CA473515548 | KCNJ11 | c.216C>A (p.Ile72=) c.183C>A (p.Ile61=) c.444C>A (p.Ile148=) c.461C>A n.602C>A | |
11 | g.17387649A>C | CA379773682 | KCNJ11 | c.215T>G (p.Ile72Ser) c.182T>G (p.Ile61Ser) c.443T>G (p.Ile148Ser) c.460T>G n.601T>G | |
11 | g.17387649A>G | CA379773683 | KCNJ11 | c.215T>C (p.Ile72Thr) c.182T>C (p.Ile61Thr) c.443T>C (p.Ile148Thr) c.460T>C n.601T>C | |
11 | g.17387649A>T | CA379773684 | KCNJ11 | c.215T>A (p.Ile72Asn) c.182T>A (p.Ile61Asn) c.443T>A (p.Ile148Asn) c.460T>A n.601T>A | |
11 | g.17387650T>A | CA379773688 | KCNJ11 | c.214A>T (p.Ile72Phe) c.181A>T (p.Ile61Phe) c.442A>T (p.Ile148Phe) c.459A>T n.600A>T | |
11 | g.17387650T>C | CA379773696 | KCNJ11 | c.214A>G (p.Ile72Val) c.181A>G (p.Ile61Val) c.442A>G (p.Ile148Val) c.459A>G n.600A>G | |
11 | g.17387650T>G | CA379773701 | KCNJ11 | c.214A>C (p.Ile72Leu) c.181A>C (p.Ile61Leu) c.442A>C (p.Ile148Leu) c.459A>C n.600A>C | |
11 | g.17387651C>A | CA473515549 | KCNJ11 | c.213G>T (p.Leu71=) c.180G>T (p.Leu60=) c.441G>T (p.Leu147=) c.458G>T n.599G>T | dbSNP |
11 | g.17387651C>G | CA473515550 | KCNJ11 | c.213G>C (p.Leu71=) c.180G>C (p.Leu60=) c.441G>C (p.Leu147=) c.458G>C n.599G>C | |
11 | g.17387651C>T | CA473515551 | KCNJ11 | c.213G>A (p.Leu71=) c.180G>A (p.Leu60=) c.441G>A (p.Leu147=) c.458G>A n.599G>A | gnomAD v4 |
11 | g.17387652A= | CA1955119346 | KCNJ11 | c.212T= (p.Leu71=) c.179T= (p.Leu60=) c.440T= (p.Leu147=) c.457T= n.598T= | |
11 | g.17387652A>C | CA379773712 | KCNJ11 | c.212T>G (p.Leu71Arg) c.179T>G (p.Leu60Arg) c.440T>G (p.Leu147Arg) c.457T>G n.598T>G | |
11 | g.17387652A>G | CA254515 | KCNJ11 | c.212T>C (p.Leu71Pro) c.179T>C (p.Leu60Pro) c.440T>C (p.Leu147Pro) c.457T>C n.598T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17387652A>T | CA379773709 | KCNJ11 | c.212T>A (p.Leu71Gln) c.179T>A (p.Leu60Gln) c.440T>A (p.Leu147Gln) c.457T>A n.598T>A | |
11 | g.17387653G>A | CA473515552 | KCNJ11 | c.211C>T (p.Leu71=) c.178C>T (p.Leu60=) c.439C>T (p.Leu147=) c.456C>T n.597C>T | |
11 | g.17387653G>C | CA379773716 | KCNJ11 | c.211C>G (p.Leu71Val) c.178C>G (p.Leu60Val) c.439C>G (p.Leu147Val) c.456C>G n.597C>G | |
11 | g.17387653G>T | CA379773717 | KCNJ11 | c.211C>A (p.Leu71Met) c.178C>A (p.Leu60Met) c.439C>A (p.Leu147Met) c.456C>A n.597C>A | |
11 | g.17387654del | CA2612639023 | KCNJ11 | c.211del (p.Leu71Ter) c.178del (p.Leu60Ter) c.439del (p.Leu147Ter) c.456del n.597del | gnomAD v4 |
11 | g.17387654G>A | CA473515553 | KCNJ11 | c.210C>T (p.Ile70=) c.177C>T (p.Ile59=) c.438C>T (p.Ile146=) c.455C>T n.596C>T | |
11 | g.17387654G>C | CA379773718 | KCNJ11 | c.210C>G (p.Ile70Met) c.177C>G (p.Ile59Met) c.438C>G (p.Ile146Met) c.455C>G n.596C>G | |
11 | g.17387654G>T | CA473515554 | KCNJ11 | c.210C>A (p.Ile70=) c.177C>A (p.Ile59=) c.438C>A (p.Ile146=) c.455C>A n.596C>A | |
11 | g.17387655A= | CA1955119347 | KCNJ11 | c.209T= (p.Ile70=) c.176T= (p.Ile59=) c.437T= (p.Ile146=) c.454T= n.595T= | |
11 | g.17387655A>C | CA379773721 | KCNJ11 | c.209T>G (p.Ile70Ser) c.176T>G (p.Ile59Ser) c.437T>G (p.Ile146Ser) c.454T>G n.595T>G | |
11 | g.17387655A>G | CA379773724 | KCNJ11 | c.209T>C (p.Ile70Thr) c.176T>C (p.Ile59Thr) c.437T>C (p.Ile146Thr) c.454T>C n.595T>C | |
11 | g.17387655A>T | CA379773731 | KCNJ11 | c.209T>A (p.Ile70Asn) c.176T>A (p.Ile59Asn) c.437T>A (p.Ile146Asn) c.454T>A n.595T>A | dbSNP gnomAD v2 |
11 | g.17387656T>A | CA379773743 | KCNJ11 | c.208A>T (p.Ile70Phe) c.175A>T (p.Ile59Phe) c.436A>T (p.Ile146Phe) c.453A>T n.594A>T | |
11 | g.17387656T>C | CA379773748 | KCNJ11 | c.208A>G (p.Ile70Val) c.175A>G (p.Ile59Val) c.436A>G (p.Ile146Val) c.453A>G n.594A>G | |
11 | g.17387656T>G | CA379773752 | KCNJ11 | c.208A>C (p.Ile70Leu) c.175A>C (p.Ile59Leu) c.436A>C (p.Ile146Leu) c.453A>C n.594A>C | |
11 | g.17387657G>A | CA473515556 | KCNJ11 | c.207C>T (p.Ala69=) c.174C>T (p.Ala58=) c.435C>T (p.Ala145=) c.452C>T n.593C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.17387657G>C | CA473515557 | KCNJ11 | c.207C>G (p.Ala69=) c.174C>G (p.Ala58=) c.435C>G (p.Ala145=) c.452C>G n.593C>G | |
11 | g.17387657G= | CA1955119348 | KCNJ11 | c.207C= (p.Ala69=) c.174C= (p.Ala58=) c.435C= (p.Ala145=) c.452C= n.593C= | |
11 | g.17387657G>T | CA473515555 | KCNJ11 | c.207C>A (p.Ala69=) c.174C>A (p.Ala58=) c.435C>A (p.Ala145=) c.452C>A n.593C>A | dbSNP gnomAD v4 |
11 | g.17387658G>A | CA379773758 | KCNJ11 | c.206C>T (p.Ala69Val) c.173C>T (p.Ala58Val) c.434C>T (p.Ala145Val) c.451C>T n.592C>T | |
11 | g.17387658G>C | CA379773762 | KCNJ11 | c.206C>G (p.Ala69Gly) c.173C>G (p.Ala58Gly) c.434C>G (p.Ala145Gly) c.451C>G n.592C>G | |
11 | g.17387658G>T | CA379773766 | KCNJ11 | c.206C>A (p.Ala69Asp) c.173C>A (p.Ala58Asp) c.434C>A (p.Ala145Asp) c.451C>A n.592C>A | |
11 | g.17387659C>A | CA379773768 | KCNJ11 | c.205G>T (p.Ala69Ser) c.172G>T (p.Ala58Ser) c.433G>T (p.Ala145Ser) c.450G>T n.591G>T | ClinVar |
11 | g.17387659C= | CA1955119349 | KCNJ11 | c.205G= (p.Ala69=) c.172G= (p.Ala58=) c.433G= (p.Ala145=) c.450G= n.591G= | |
11 | g.17387659C>G | CA379773770 | KCNJ11 | c.205G>C (p.Ala69Pro) c.172G>C (p.Ala58Pro) c.433G>C (p.Ala145Pro) c.450G>C n.591G>C | |
11 | g.17387659C>T | CA379773769 | KCNJ11 | c.205G>A (p.Ala69Thr) c.172G>A (p.Ala58Thr) c.433G>A (p.Ala145Thr) c.450G>A n.591G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
11 | g.17387660C>A | CA473515560 | KCNJ11 | c.204G>T (p.Leu68=) c.171G>T (p.Leu57=) c.432G>T (p.Leu144=) c.449G>T n.590G>T | |
11 | g.17387660C>G | CA473515558 | KCNJ11 | c.204G>C (p.Leu68=) c.171G>C (p.Leu57=) c.432G>C (p.Leu144=) c.449G>C n.590G>C | |
11 | g.17387660C>T | CA473515559 | KCNJ11 | c.204G>A (p.Leu68=) c.171G>A (p.Leu57=) c.432G>A (p.Leu144=) c.449G>A n.590G>A | |
11 | g.17387661A>C | CA379773777 | KCNJ11 | c.203T>G (p.Leu68Arg) c.170T>G (p.Leu57Arg) c.431T>G (p.Leu144Arg) c.448T>G n.589T>G | |
11 | g.17387661A>G | CA379773780 | KCNJ11 | c.203T>C (p.Leu68Pro) c.170T>C (p.Leu57Pro) c.431T>C (p.Leu144Pro) c.448T>C n.589T>C | |
11 | g.17387661A>T | CA379773784 | KCNJ11 | c.203T>A (p.Leu68Gln) c.170T>A (p.Leu57Gln) c.431T>A (p.Leu144Gln) c.448T>A n.589T>A | |
11 | g.17387662G>A | CA473515561 | KCNJ11 | c.202C>T (p.Leu68=) c.169C>T (p.Leu57=) c.430C>T (p.Leu144=) c.447C>T n.588C>T | |
11 | g.17387662G>C | CA379773788 | KCNJ11 | c.202C>G (p.Leu68Val) c.169C>G (p.Leu57Val) c.430C>G (p.Leu144Val) c.447C>G n.588C>G | ClinVar dbSNP gnomAD v4 |
11 | g.17387662G= | CA1955119350 | KCNJ11 | c.202C= (p.Leu68=) c.169C= (p.Leu57=) c.430C= (p.Leu144=) c.447C= n.588C= | |
11 | g.17387662G>T | CA379773790 | KCNJ11 | c.202C>A (p.Leu68Met) c.169C>A (p.Leu57Met) c.430C>A (p.Leu144Met) c.447C>A n.588C>A | |
11 | g.17387663T>A | CA473515562 | KCNJ11 | c.201A>T (p.Pro67=) c.168A>T (p.Pro56=) c.429A>T (p.Pro143=) c.446A>T n.587A>T | |
11 | g.17387663T>C | CA473515564 | KCNJ11 | c.201A>G (p.Pro67=) c.168A>G (p.Pro56=) c.429A>G (p.Pro143=) c.446A>G n.587A>G | dbSNP |
11 | g.17387663T>G | CA473515563 | KCNJ11 | c.201A>C (p.Pro67=) c.168A>C (p.Pro56=) c.429A>C (p.Pro143=) c.446A>C n.587A>C | |
11 | g.17387664G>A | CA379773793 | KCNJ11 | c.200C>T (p.Pro67Leu) c.167C>T (p.Pro56Leu) c.428C>T (p.Pro143Leu) c.445C>T n.586C>T | gnomAD v4 |
11 | g.17387664G>C | CA379773796 | KCNJ11 | c.200C>G (p.Pro67Arg) c.167C>G (p.Pro56Arg) c.428C>G (p.Pro143Arg) c.445C>G n.586C>G | |
11 | g.17387664G>T | CA379773802 | KCNJ11 | c.200C>A (p.Pro67Gln) c.167C>A (p.Pro56Gln) c.428C>A (p.Pro143Gln) c.445C>A n.586C>A | |
11 | g.17387665G>A | CA379773807 | KCNJ11 | c.199C>T (p.Pro67Ser) c.166C>T (p.Pro56Ser) c.427C>T (p.Pro143Ser) c.444C>T n.585C>T | |
11 | g.17387665G>C | CA379773810 | KCNJ11 | c.199C>G (p.Pro67Ala) c.166C>G (p.Pro56Ala) c.427C>G (p.Pro143Ala) c.444C>G n.585C>G | |
11 | g.17387665G>T | CA379773816 | KCNJ11 | c.199C>A (p.Pro67Thr) c.166C>A (p.Pro56Thr) c.427C>A (p.Pro143Thr) c.444C>A n.585C>A | |
11 | g.17387666G>A | CA473515565 | KCNJ11 | c.198C>T (p.Cys66=) c.165C>T (p.Cys55=) c.426C>T (p.Cys142=) c.443C>T n.584C>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17387666G>C | CA379773820 | KCNJ11 | c.198C>G (p.Cys66Trp) c.165C>G (p.Cys55Trp) c.426C>G (p.Cys142Trp) c.443C>G n.584C>G | |
11 | g.17387666G= | CA1955119351 | KCNJ11 | c.198C= (p.Cys66=) c.165C= (p.Cys55=) c.426C= (p.Cys142=) c.443C= n.584C= | |
11 | g.17387666G>T | CA379773825 | KCNJ11 | c.198C>A (p.Cys66Ter) c.165C>A (p.Cys55Ter) c.426C>A (p.Cys142Ter) c.443C>A n.584C>A | |
11 | g.17387667C>A | CA379773830 | KCNJ11 | c.197G>T (p.Cys66Phe) c.164G>T (p.Cys55Phe) c.425G>T (p.Cys142Phe) c.442G>T n.583G>T | |
11 | g.17387667C>G | CA379773837 | KCNJ11 | c.197G>C (p.Cys66Ser) c.164G>C (p.Cys55Ser) c.425G>C (p.Cys142Ser) c.442G>C n.583G>C | |
11 | g.17387667C>T | CA379773833 | KCNJ11 | c.197G>A (p.Cys66Tyr) c.164G>A (p.Cys55Tyr) c.425G>A (p.Cys142Tyr) c.442G>A n.583G>A | |
11 | g.17387668A>C | CA379773842 | KCNJ11 | c.196T>G (p.Cys66Gly) c.163T>G (p.Cys55Gly) c.424T>G (p.Cys142Gly) c.441T>G n.582T>G | gnomAD v4 |
11 | g.17387668A>G | CA379773846 | KCNJ11 | c.196T>C (p.Cys66Arg) c.163T>C (p.Cys55Arg) c.424T>C (p.Cys142Arg) c.441T>C n.582T>C | |
11 | g.17387668A>T | CA379773850 | KCNJ11 | c.196T>A (p.Cys66Ser) c.163T>A (p.Cys55Ser) c.424T>A (p.Cys142Ser) c.441T>A n.582T>A | |
11 | g.17387669C>A | CA379773855 | KCNJ11 | c.195G>T (p.Glu65Asp) c.162G>T (p.Glu54Asp) c.423G>T (p.Glu141Asp) c.440G>T n.581G>T | |
11 | g.17387669C>G | CA379773857 | KCNJ11 | c.195G>C (p.Glu65Asp) c.162G>C (p.Glu54Asp) c.423G>C (p.Glu141Asp) c.440G>C n.581G>C | |
11 | g.17387669C>T | CA473515566 | KCNJ11 | c.195G>A (p.Glu65=) c.162G>A (p.Glu54=) c.423G>A (p.Glu141=) c.440G>A n.581G>A | |
11 | g.17387670T>A | CA379773870 | KCNJ11 | c.194A>T (p.Glu65Val) c.161A>T (p.Glu54Val) c.422A>T (p.Glu141Val) c.439A>T n.580A>T | |
11 | g.17387670T>C | CA379773876 | KCNJ11 | c.194A>G (p.Glu65Gly) c.161A>G (p.Glu54Gly) c.422A>G (p.Glu141Gly) c.439A>G n.580A>G | |
11 | g.17387670T>G | CA379773883 | KCNJ11 | c.194A>C (p.Glu65Ala) c.161A>C (p.Glu54Ala) c.422A>C (p.Glu141Ala) c.439A>C n.580A>C | |
11 | g.17387671C>A | CA379773886 | KCNJ11 | c.193G>T (p.Glu65Ter) c.160G>T (p.Glu54Ter) c.421G>T (p.Glu141Ter) c.438G>T n.579G>T | |
11 | g.17387671C>G | CA379773887 | KCNJ11 | c.193G>C (p.Glu65Gln) c.160G>C (p.Glu54Gln) c.421G>C (p.Glu141Gln) c.438G>C n.579G>C | |
11 | g.17387671C>T | CA379773888 | KCNJ11 | c.193G>A (p.Glu65Lys) c.160G>A (p.Glu54Lys) c.421G>A (p.Glu141Lys) c.438G>A n.579G>A | gnomAD v4 |
11 | g.17387672C>A | CA379773889 | KCNJ11 | c.192G>T (p.Glu64Asp) c.159G>T (p.Glu53Asp) c.420G>T (p.Glu140Asp) c.437G>T n.578G>T | |
11 | g.17387672C>G | CA379773892 | KCNJ11 | c.192G>C (p.Glu64Asp) c.159G>C (p.Glu53Asp) c.420G>C (p.Glu140Asp) c.437G>C n.578G>C | |
11 | g.17387672C>T | CA473515567 | KCNJ11 | c.192G>A (p.Glu64=) c.159G>A (p.Glu53=) c.420G>A (p.Glu140=) c.437G>A n.578G>A | gnomAD v4 |
11 | g.17387673T>A | CA379773896 | KCNJ11 | c.191A>T (p.Glu64Val) c.158A>T (p.Glu53Val) c.419A>T (p.Glu140Val) c.436A>T n.577A>T | |
11 | g.17387673T>C | CA379773911 | KCNJ11 | c.191A>G (p.Glu64Gly) c.158A>G (p.Glu53Gly) c.419A>G (p.Glu140Gly) c.436A>G n.577A>G | |
11 | g.17387673T>G | CA379773898 | KCNJ11 | c.191A>C (p.Glu64Ala) c.158A>C (p.Glu53Ala) c.419A>C (p.Glu140Ala) c.436A>C n.577A>C | |
11 | g.17387674C>A | CA379773916 | KCNJ11 | c.190G>T (p.Glu64Ter) c.157G>T (p.Glu53Ter) c.418G>T (p.Glu140Ter) c.435G>T n.576G>T | |
11 | g.17387674C>G | CA379773922 | KCNJ11 | c.190G>C (p.Glu64Gln) c.157G>C (p.Glu53Gln) c.418G>C (p.Glu140Gln) c.435G>C n.576G>C | |
11 | g.17387674C>T | CA379773918 | KCNJ11 | c.190G>A (p.Glu64Lys) c.157G>A (p.Glu53Lys) c.418G>A (p.Glu140Lys) c.435G>A n.576G>A | gnomAD v4 COSMIC |
11 | g.17387675A>C | CA473515568 | KCNJ11 | c.189T>G (p.Thr63=) c.156T>G (p.Thr52=) c.417T>G (p.Thr139=) c.434T>G n.575T>G | gnomAD v4 |
11 | g.17387675A>G | CA473515569 | KCNJ11 | c.189T>C (p.Thr63=) c.156T>C (p.Thr52=) c.417T>C (p.Thr139=) c.434T>C n.575T>C | gnomAD v4 |
11 | g.17387675A>T | CA473515570 | KCNJ11 | c.189T>A (p.Thr63=) c.156T>A (p.Thr52=) c.417T>A (p.Thr139=) c.434T>A n.575T>A | COSMIC |
11 | g.17387676G>A | CA379773936 | KCNJ11 | c.188C>T (p.Thr63Ile) c.155C>T (p.Thr52Ile) c.416C>T (p.Thr139Ile) c.433C>T n.574C>T | |
11 | g.17387676G>C | CA379773938 | KCNJ11 | c.188C>G (p.Thr63Ser) c.155C>G (p.Thr52Ser) c.416C>G (p.Thr139Ser) c.433C>G n.574C>G | |
11 | g.17387676G>T | CA379773937 | KCNJ11 | c.188C>A (p.Thr63Asn) c.155C>A (p.Thr52Asn) c.416C>A (p.Thr139Asn) c.433C>A n.574C>A | |
11 | g.17387677T>A | CA379773941 | KCNJ11 | c.187A>T (p.Thr63Ser) c.154A>T (p.Thr52Ser) c.415A>T (p.Thr139Ser) c.432A>T n.573A>T | |
11 | g.17387677T>C | CA379773944 | KCNJ11 | c.187A>G (p.Thr63Ala) c.154A>G (p.Thr52Ala) c.415A>G (p.Thr139Ala) c.432A>G n.573A>G | |
11 | g.17387677T>G | CA379773942 | KCNJ11 | c.187A>C (p.Thr63Pro) c.154A>C (p.Thr52Pro) c.415A>C (p.Thr139Pro) c.432A>C n.573A>C | |
11 | g.17387678C>A | CA473515571 | KCNJ11 | c.186G>T (p.Val62=) c.153G>T (p.Val51=) c.414G>T (p.Val138=) c.431G>T n.572G>T | |
11 | g.17387678C>G | CA473515573 | KCNJ11 | c.186G>C (p.Val62=) c.153G>C (p.Val51=) c.414G>C (p.Val138=) c.431G>C n.572G>C | |
11 | g.17387678C>T | CA473515572 | KCNJ11 | c.186G>A (p.Val62=) c.153G>A (p.Val51=) c.414G>A (p.Val138=) c.431G>A n.572G>A | gnomAD v4 |
11 | g.17387679A>C | CA379773946 | KCNJ11 | c.185T>G (p.Val62Gly) c.152T>G (p.Val51Gly) c.413T>G (p.Val138Gly) c.430T>G n.571T>G | gnomAD v4 |
11 | g.17387679A>G | CA379773948 | KCNJ11 | c.185T>C (p.Val62Ala) c.152T>C (p.Val51Ala) c.413T>C (p.Val138Ala) c.430T>C n.571T>C | |
11 | g.17387679A>T | CA379773950 | KCNJ11 | c.185T>A (p.Val62Glu) c.152T>A (p.Val51Glu) c.413T>A (p.Val138Glu) c.430T>A n.571T>A | |
11 | g.17387679dup | CA2839582179 | KCNJ11 | c.185dup (p.Thr63AspfsTer2) c.152dup (p.Thr52AspfsTer2) c.413dup (p.Thr139AspfsTer2) c.430dup n.571dup | |
11 | g.17387680C>A | CA379773951 | KCNJ11 | c.184G>T (p.Val62Leu) c.151G>T (p.Val51Leu) c.412G>T (p.Val138Leu) c.429G>T n.570G>T | ClinVar dbSNP |
11 | g.17387680C= | CA1955119352 | KCNJ11 | c.184G= (p.Val62=) c.151G= (p.Val51=) c.412G= (p.Val138=) c.429G= n.570G= | |
11 | g.17387680C>G | CA379773952 | KCNJ11 | c.184G>C (p.Val62Leu) c.151G>C (p.Val51Leu) c.412G>C (p.Val138Leu) c.429G>C n.570G>C | |
11 | g.17387680C>T | CA379773953 | KCNJ11 | c.184G>A (p.Val62Met) c.151G>A (p.Val51Met) c.412G>A (p.Val138Met) c.429G>A n.570G>A | dbSNP |
11 | g.17387681C>A | CA379773954 | KCNJ11 | c.183G>T (p.Met61Ile) c.150G>T (p.Met50Ile) c.411G>T (p.Met137Ile) c.428G>T n.569G>T | |
11 | g.17387681C= | CA1955119353 | KCNJ11 | c.183G= (p.Met61=) c.150G= (p.Met50=) c.411G= (p.Met137=) c.428G= n.569G= | |
11 | g.17387681C>G | CA379773956 | KCNJ11 | c.183G>C (p.Met61Ile) c.150G>C (p.Met50Ile) c.411G>C (p.Met137Ile) c.428G>C n.569G>C | dbSNP |
11 | g.17387681C>T | CA5902291 | KCNJ11 | c.183G>A (p.Met61Ile) c.150G>A (p.Met50Ile) c.411G>A (p.Met137Ile) c.428G>A n.569G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387682A>C | CA379773961 | KCNJ11 | c.182T>G (p.Met61Arg) c.149T>G (p.Met50Arg) c.410T>G (p.Met137Arg) c.427T>G n.568T>G | |
11 | g.17387682A>G | CA379773960 | KCNJ11 | c.182T>C (p.Met61Thr) c.149T>C (p.Met50Thr) c.410T>C (p.Met137Thr) c.427T>C n.568T>C | |
11 | g.17387682A>T | CA379773959 | KCNJ11 | c.182T>A (p.Met61Lys) c.149T>A (p.Met50Lys) c.410T>A (p.Met137Lys) c.427T>A n.568T>A | |
11 | g.17387683T>A | CA379773964 | KCNJ11 | c.181A>T (p.Met61Leu) c.148A>T (p.Met50Leu) c.409A>T (p.Met137Leu) c.426A>T n.567A>T | COSMIC |
11 | g.17387683T>C | CA379773965 | KCNJ11 | c.181A>G (p.Met61Val) c.148A>G (p.Met50Val) c.409A>G (p.Met137Val) c.426A>G n.567A>G | |
11 | g.17387683T>G | CA379773967 | KCNJ11 | c.181A>C (p.Met61Leu) c.148A>C (p.Met50Leu) c.409A>C (p.Met137Leu) c.426A>C n.567A>C | |
11 | g.17387684G>A | CA473515574 | KCNJ11 | c.180C>T (p.Arg60=) c.147C>T (p.Arg49=) c.408C>T (p.Arg136=) c.425C>T n.566C>T | ClinVar gnomAD v4 |
11 | g.17387684G>C | CA473515575 | KCNJ11 | c.180C>G (p.Arg60=) c.147C>G (p.Arg49=) c.408C>G (p.Arg136=) c.425C>G n.566C>G | |
11 | g.17387684G>T | CA473515576 | KCNJ11 | c.180C>A (p.Arg60=) c.147C>A (p.Arg49=) c.408C>A (p.Arg136=) c.425C>A n.566C>A | |
11 | g.17387685C>A | CA379773968 | KCNJ11 | c.179G>T (p.Arg60Leu) c.146G>T (p.Arg49Leu) c.407G>T (p.Arg136Leu) c.424G>T n.565G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.17387685C= | CA1955119354 | KCNJ11 | c.179G= (p.Arg60=) c.146G= (p.Arg49=) c.407G= (p.Arg136=) c.424G= n.565G= | |
11 | g.17387685C>G | CA379773970 | KCNJ11 | c.179G>C (p.Arg60Pro) c.146G>C (p.Arg49Pro) c.407G>C (p.Arg136Pro) c.424G>C n.565G>C | |
11 | g.17387685C>T | CA379773972 | KCNJ11 | c.179G>A (p.Arg60His) c.146G>A (p.Arg49His) c.407G>A (p.Arg136His) c.424G>A n.565G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.17387686G>A | CA5902293 | KCNJ11 | c.178C>T (p.Arg60Cys) c.145C>T (p.Arg49Cys) c.406C>T (p.Arg136Cys) c.423C>T n.564C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387686G>C | CA379773976 | KCNJ11 | c.178C>G (p.Arg60Gly) c.145C>G (p.Arg49Gly) c.406C>G (p.Arg136Gly) c.423C>G n.564C>G | |
11 | g.17387686G= | CA1955119355 | KCNJ11 | c.178C= (p.Arg60=) c.145C= (p.Arg49=) c.406C= (p.Arg136=) c.423C= n.564C= | |
11 | g.17387686G>T | CA379773977 | KCNJ11 | c.178C>A (p.Arg60Ser) c.145C>A (p.Arg49Ser) c.406C>A (p.Arg136Ser) c.423C>A n.564C>A | ClinVar dbSNP |
11 | g.17387687C>A | CA5902294 | KCNJ11 | c.177G>T (p.Gly59=) c.144G>T (p.Gly48=) c.405G>T (p.Gly135=) c.422G>T n.563G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387687C= | CA1955119356 | KCNJ11 | c.177G= (p.Gly59=) c.144G= (p.Gly48=) c.405G= (p.Gly135=) c.422G= n.563G= | |
11 | g.17387687C>G | CA473515579 | KCNJ11 | c.177G>C (p.Gly59=) c.144G>C (p.Gly48=) c.405G>C (p.Gly135=) c.422G>C n.563G>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17387687C>T | CA473515577 | KCNJ11 | c.177G>A (p.Gly59=) c.144G>A (p.Gly48=) c.405G>A (p.Gly135=) c.422G>A n.563G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387692dup | CA5902292 | KCNJ11 | c.177dup (p.Arg60AlafsTer5) c.144dup (p.Arg49AlafsTer5) c.405dup (p.Arg136AlafsTer5) c.422dup n.563dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387692del | CA473515578 | KCNJ11 | c.177del (p.Arg60AlafsTer3) c.144del (p.Arg49AlafsTer3) c.405del (p.Arg136AlafsTer3) c.422del n.563del | gnomAD v4 COSMIC |
11 | g.17387688C>A | CA379773983 | KCNJ11 | c.176G>T (p.Gly59Val) c.143G>T (p.Gly48Val) c.404G>T (p.Gly135Val) c.421G>T n.562G>T | |
11 | g.17387688C= | CA1955119357 | KCNJ11 | c.176G= (p.Gly59=) c.143G= (p.Gly48=) c.404G= (p.Gly135=) c.421G= n.562G= | |
11 | g.17387688C>G | CA379773984 | KCNJ11 | c.176G>C (p.Gly59Ala) c.143G>C (p.Gly48Ala) c.404G>C (p.Gly135Ala) c.421G>C n.562G>C | |
11 | g.17387688C>T | CA5902295 | KCNJ11 | c.176G>A (p.Gly59Glu) c.143G>A (p.Gly48Glu) c.404G>A (p.Gly135Glu) c.421G>A n.562G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387689C>A | CA379773987 | KCNJ11 | c.175G>T (p.Gly59Trp) c.142G>T (p.Gly48Trp) c.403G>T (p.Gly135Trp) c.420G>T n.561G>T | |
11 | g.17387689C>G | CA379773989 | KCNJ11 | c.175G>C (p.Gly59Arg) c.142G>C (p.Gly48Arg) c.403G>C (p.Gly135Arg) c.420G>C n.561G>C | |
11 | g.17387689C>T | CA379773990 | KCNJ11 | c.175G>A (p.Gly59Arg) c.142G>A (p.Gly48Arg) c.403G>A (p.Gly135Arg) c.420G>A n.561G>A | |
11 | g.17387690C>A | CA473515580 | KCNJ11 | c.174G>T (p.Gly58=) c.141G>T (p.Gly47=) c.402G>T (p.Gly134=) c.419G>T n.560G>T | |
11 | g.17387690C>G | CA473515581 | KCNJ11 | c.174G>C (p.Gly58=) c.141G>C (p.Gly47=) c.402G>C (p.Gly134=) c.419G>C n.560G>C | |
11 | g.17387690C>T | CA473515582 | KCNJ11 | c.174G>A (p.Gly58=) c.141G>A (p.Gly47=) c.402G>A (p.Gly134=) c.419G>A n.560G>A | |
11 | g.17387691C>A | CA379773993 | KCNJ11 | c.173G>T (p.Gly58Val) c.140G>T (p.Gly47Val) c.401G>T (p.Gly134Val) c.418G>T n.559G>T | |
11 | g.17387691C= | CA1955119358 | KCNJ11 | c.173G= (p.Gly58=) c.140G= (p.Gly47=) c.401G= (p.Gly134=) c.418G= n.559G= | |
11 | g.17387691C>G | CA379773995 | KCNJ11 | c.173G>C (p.Gly58Ala) c.140G>C (p.Gly47Ala) c.401G>C (p.Gly134Ala) c.418G>C n.559G>C | dbSNP |
11 | g.17387691C>T | CA379773996 | KCNJ11 | c.173G>A (p.Gly58Glu) c.140G>A (p.Gly47Glu) c.401G>A (p.Gly134Glu) c.418G>A n.559G>A | |
11 | g.17387692C>A | CA379773999 | KCNJ11 | c.172G>T (p.Gly58Trp) c.139G>T (p.Gly47Trp) c.400G>T (p.Gly134Trp) c.417G>T n.558G>T | gnomAD v4 |
11 | g.17387692C>G | CA379774001 | KCNJ11 | c.172G>C (p.Gly58Arg) c.139G>C (p.Gly47Arg) c.400G>C (p.Gly134Arg) c.417G>C n.558G>C | |
11 | g.17387692C>T | CA379774003 | KCNJ11 | c.172G>A (p.Gly58Arg) c.139G>A (p.Gly47Arg) c.400G>A (p.Gly134Arg) c.417G>A n.558G>A | |
11 | g.17387693A>C | CA379774005 | KCNJ11 | c.171T>G (p.Phe57Leu) c.138T>G (p.Phe46Leu) c.399T>G (p.Phe133Leu) c.416T>G n.557T>G | |
11 | g.17387693A>G | CA473515583 | KCNJ11 | c.171T>C (p.Phe57=) c.138T>C (p.Phe46=) c.399T>C (p.Phe133=) c.416T>C n.557T>C | gnomAD v4 |
11 | g.17387693A>T | CA379774006 | KCNJ11 | c.171T>A (p.Phe57Leu) c.138T>A (p.Phe46Leu) c.399T>A (p.Phe133Leu) c.416T>A n.557T>A | |
11 | g.17387695del | CA2695201086 | KCNJ11 | c.171del (p.Phe57LeufsTer6) c.138del (p.Phe46LeufsTer6) c.399del (p.Phe133LeufsTer6) c.416del n.557del | ClinVar |
11 | g.17387694A>C | CA379774008 | KCNJ11 | c.170T>G (p.Phe57Cys) c.137T>G (p.Phe46Cys) c.398T>G (p.Phe133Cys) c.415T>G n.556T>G | |
11 | g.17387694A>G | CA379774009 | KCNJ11 | c.170T>C (p.Phe57Ser) c.137T>C (p.Phe46Ser) c.398T>C (p.Phe133Ser) c.415T>C n.556T>C | |
11 | g.17387694A>T | CA379774007 | KCNJ11 | c.170T>A (p.Phe57Tyr) c.137T>A (p.Phe46Tyr) c.398T>A (p.Phe133Tyr) c.415T>A n.556T>A | |
11 | g.17387695A>C | CA379774010 | KCNJ11 | c.169T>G (p.Phe57Val) c.136T>G (p.Phe46Val) c.397T>G (p.Phe133Val) c.414T>G n.555T>G | |
11 | g.17387695A>G | CA379774012 | KCNJ11 | c.169T>C (p.Phe57Leu) c.136T>C (p.Phe46Leu) c.397T>C (p.Phe133Leu) c.414T>C n.555T>C | |
11 | g.17387695A>T | CA379774014 | KCNJ11 | c.169T>A (p.Phe57Ile) c.136T>A (p.Phe46Ile) c.397T>A (p.Phe133Ile) c.414T>A n.555T>A | |
11 | g.17387696G>A | CA473515584 | KCNJ11 | c.168C>T (p.Gly56=) c.135C>T (p.Gly45=) c.396C>T (p.Gly132=) c.413C>T n.554C>T | |
11 | g.17387696G>C | CA473515585 | KCNJ11 | c.168C>G (p.Gly56=) c.135C>G (p.Gly45=) c.396C>G (p.Gly132=) c.413C>G n.554C>G | |
11 | g.17387696G>T | CA473515586 | KCNJ11 | c.168C>A (p.Gly56=) c.135C>A (p.Gly45=) c.396C>A (p.Gly132=) c.413C>A n.554C>A | |
11 | g.17387697C>A | CA379774016 | KCNJ11 | c.167G>T (p.Gly56Val) c.134G>T (p.Gly45Val) c.395G>T (p.Gly132Val) c.412G>T n.553G>T | |
11 | g.17387697C>G | CA379774018 | KCNJ11 | c.167G>C (p.Gly56Ala) c.134G>C (p.Gly45Ala) c.395G>C (p.Gly132Ala) c.412G>C n.553G>C | |
11 | g.17387697C>T | CA379774020 | KCNJ11 | c.167G>A (p.Gly56Asp) c.134G>A (p.Gly45Asp) c.395G>A (p.Gly132Asp) c.412G>A n.553G>A | |
11 | g.17387698C>A | CA379774022 | KCNJ11 | c.166G>T (p.Gly56Cys) c.133G>T (p.Gly45Cys) c.394G>T (p.Gly132Cys) c.411G>T n.552G>T | |
11 | g.17387698C>G | CA379774027 | KCNJ11 | c.166G>C (p.Gly56Arg) c.133G>C (p.Gly45Arg) c.394G>C (p.Gly132Arg) c.411G>C n.552G>C | |
11 | g.17387698C>T | CA379774025 | KCNJ11 | c.166G>A (p.Gly56Ser) c.133G>A (p.Gly45Ser) c.394G>A (p.Gly132Ser) c.411G>A n.552G>A | |
11 | g.17387699A>C | CA379774029 | KCNJ11 | c.165T>G (p.Ile55Met) c.132T>G (p.Ile44Met) c.393T>G (p.Ile131Met) c.410T>G n.551T>G | |
11 | g.17387699A>G | CA473515587 | KCNJ11 | c.165T>C (p.Ile55=) c.132T>C (p.Ile44=) c.393T>C (p.Ile131=) c.410T>C n.551T>C | ClinVar dbSNP |
11 | g.17387699A>T | CA473515589 | KCNJ11 | c.165T>A (p.Ile55=) c.132T>A (p.Ile44=) c.393T>A (p.Ile131=) c.410T>A n.551T>A | |
11 | g.17387700del | CA2739276315 | KCNJ11 | c.165del (p.Ile55MetfsTer8) c.132del (p.Ile44MetfsTer8) c.393del (p.Ile131MetfsTer8) c.410del n.551del | ClinVar |
11 | g.17387700_17387702dup | CA2695213244 | KCNJ11 | c.163_165dup (p.Ile55_Gly56insIle) c.130_132dup (p.Ile44_Gly45insIle) c.391_393dup (p.Ile131_Gly132insIle) c.408_410dup n.549_551dup | |
11 | g.17387699_17387702dup | CA2612639102 | KCNJ11 | c.162_165dup (p.Gly56TyrfsTer10) c.129_132dup (p.Gly45TyrfsTer10) c.390_393dup (p.Gly132TyrfsTer10) c.407_410dup n.548_551dup | gnomAD v4 |
11 | g.17387700A= | CA1955119359 | KCNJ11 | c.164T= (p.Ile55=) c.131T= (p.Ile44=) c.392T= (p.Ile131=) c.409T= n.550T= | |
11 | g.17387700A>C | CA379774031 | KCNJ11 | c.164T>G (p.Ile55Ser) c.131T>G (p.Ile44Ser) c.392T>G (p.Ile131Ser) c.409T>G n.550T>G | |
11 | g.17387700A>G | CA218399931 | KCNJ11 | c.164T>C (p.Ile55Thr) c.131T>C (p.Ile44Thr) c.392T>C (p.Ile131Thr) c.409T>C n.550T>C | dbSNP |
11 | g.17387700A>T | CA379774034 | KCNJ11 | c.164T>A (p.Ile55Asn) c.131T>A (p.Ile44Asn) c.392T>A (p.Ile131Asn) c.409T>A n.550T>A | |
11 | g.17387701T>A | CA379774040 | KCNJ11 | c.163A>T (p.Ile55Phe) c.130A>T (p.Ile44Phe) c.391A>T (p.Ile131Phe) c.408A>T n.549A>T | |
11 | g.17387701T>C | CA379774038 | KCNJ11 | c.163A>G (p.Ile55Val) c.130A>G (p.Ile44Val) c.391A>G (p.Ile131Val) c.408A>G n.549A>G | |
11 | g.17387701T>G | CA379774036 | KCNJ11 | c.163A>C (p.Ile55Leu) c.130A>C (p.Ile44Leu) c.391A>C (p.Ile131Leu) c.408A>C n.549A>C | |
11 | g.17387702A>C | CA473515592 | KCNJ11 | c.162T>G (p.Thr54=) c.129T>G (p.Thr43=) c.390T>G (p.Thr130=) c.407T>G n.548T>G | |
11 | g.17387702A>G | CA473515595 | KCNJ11 | c.162T>C (p.Thr54=) c.129T>C (p.Thr43=) c.390T>C (p.Thr130=) c.407T>C n.548T>C | |
11 | g.17387702A>T | CA473515593 | KCNJ11 | c.162T>A (p.Thr54=) c.129T>A (p.Thr43=) c.390T>A (p.Thr130=) c.407T>A n.548T>A | |
11 | g.17387703G>A | CA379774042 | KCNJ11 | c.161C>T (p.Thr54Ile) c.128C>T (p.Thr43Ile) c.389C>T (p.Thr130Ile) c.406C>T n.547C>T | gnomAD v4 |
11 | g.17387703G>C | CA379774045 | KCNJ11 | c.161C>G (p.Thr54Ser) c.128C>G (p.Thr43Ser) c.389C>G (p.Thr130Ser) c.406C>G n.547C>G | |
11 | g.17387703G>T | CA379774044 | KCNJ11 | c.161C>A (p.Thr54Asn) c.128C>A (p.Thr43Asn) c.389C>A (p.Thr130Asn) c.406C>A n.547C>A | |
11 | g.17387704T>A | CA379774051 | KCNJ11 | c.160A>T (p.Thr54Ser) c.127A>T (p.Thr43Ser) c.388A>T (p.Thr130Ser) c.405A>T n.546A>T | |
11 | g.17387704T>C | CA379774052 | KCNJ11 | c.160A>G (p.Thr54Ala) c.127A>G (p.Thr43Ala) c.388A>G (p.Thr130Ala) c.405A>G n.546A>G | gnomAD v4 |
11 | g.17387704T>G | CA379774053 | KCNJ11 | c.160A>C (p.Thr54Pro) c.127A>C (p.Thr43Pro) c.388A>C (p.Thr130Pro) c.405A>C n.546A>C | |
11 | g.17387705C>A | CA473515597 | KCNJ11 | c.159G>T (p.Val53=) c.126G>T (p.Val42=) c.387G>T (p.Val129=) c.404G>T n.545G>T | dbSNP |
11 | g.17387705C= | CA1955119360 | KCNJ11 | c.159G= (p.Val53=) c.126G= (p.Val42=) c.387G= (p.Val129=) c.404G= n.545G= | |
11 | g.17387705C>G | CA473515599 | KCNJ11 | c.159G>C (p.Val53=) c.126G>C (p.Val42=) c.387G>C (p.Val129=) c.404G>C n.545G>C | |
11 | g.17387705C>T | CA473515600 | KCNJ11 | c.159G>A (p.Val53=) c.126G>A (p.Val42=) c.387G>A (p.Val129=) c.404G>A n.545G>A | |
11 | g.17387706A>C | CA379774055 | KCNJ11 | c.158T>G (p.Val53Gly) c.125T>G (p.Val42Gly) c.386T>G (p.Val129Gly) c.403T>G n.544T>G | |
11 | g.17387706A>G | CA379774056 | KCNJ11 | c.158T>C (p.Val53Ala) c.125T>C (p.Val42Ala) c.386T>C (p.Val129Ala) c.403T>C n.544T>C | |
11 | g.17387706A>T | CA379774057 | KCNJ11 | c.158T>A (p.Val53Glu) c.125T>A (p.Val42Glu) c.386T>A (p.Val129Glu) c.403T>A n.544T>A | |
11 | g.17387707C>A | CA379774060 | KCNJ11 | c.157G>T (p.Val53Leu) c.124G>T (p.Val42Leu) c.385G>T (p.Val129Leu) c.402G>T n.543G>T | |
11 | g.17387707C>G | CA379774061 | KCNJ11 | c.157G>C (p.Val53Leu) c.124G>C (p.Val42Leu) c.385G>C (p.Val129Leu) c.402G>C n.543G>C | |
11 | g.17387707C>T | CA379774063 | KCNJ11 | c.157G>A (p.Val53Met) c.124G>A (p.Val42Met) c.385G>A (p.Val129Met) c.402G>A n.543G>A | |
11 | g.17387708T>A | CA379774066 | KCNJ11 | c.156A>T (p.Gln52His) c.123A>T (p.Gln41His) c.384A>T (p.Gln128His) c.401A>T n.542A>T | |
11 | g.17387708T>C | CA473515603 | KCNJ11 | c.156A>G (p.Gln52=) c.123A>G (p.Gln41=) c.384A>G (p.Gln128=) c.401A>G n.542A>G | |
11 | g.17387708T>G | CA379774067 | KCNJ11 | c.156A>C (p.Gln52His) c.123A>C (p.Gln41His) c.384A>C (p.Gln128His) c.401A>C n.542A>C | |
11 | g.17387709T>A | CA379774073 | KCNJ11 | c.155A>T (p.Gln52Leu) c.122A>T (p.Gln41Leu) c.383A>T (p.Gln128Leu) c.400A>T n.541A>T | |
11 | g.17387709T>C | CA379774072 | KCNJ11 | c.155A>G (p.Gln52Arg) c.122A>G (p.Gln41Arg) c.383A>G (p.Gln128Arg) c.400A>G n.541A>G | |
11 | g.17387709T>G | CA379774070 | KCNJ11 | c.155A>C (p.Gln52Pro) c.122A>C (p.Gln41Pro) c.383A>C (p.Gln128Pro) c.400A>C n.541A>C | |
11 | g.17387710G>A | CA379774075 | KCNJ11 | c.154C>T (p.Gln52Ter) c.121C>T (p.Gln41Ter) c.382C>T (p.Gln128Ter) c.399C>T n.540C>T | |
11 | g.17387710G>C | CA379774077 | KCNJ11 | c.154C>G (p.Gln52Glu) c.121C>G (p.Gln41Glu) c.382C>G (p.Gln128Glu) c.399C>G n.540C>G | gnomAD v4 |
11 | g.17387710G>T | CA379774078 | KCNJ11 | c.154C>A (p.Gln52Lys) c.121C>A (p.Gln41Lys) c.382C>A (p.Gln128Lys) c.399C>A n.540C>A | |
11 | g.17387711G>A | CA473515604 | KCNJ11 | c.153C>T (p.Val51=) c.120C>T (p.Val40=) c.381C>T (p.Val127=) c.398C>T n.539C>T | |
11 | g.17387711G>C | CA473515606 | KCNJ11 | c.153C>G (p.Val51=) c.120C>G (p.Val40=) c.381C>G (p.Val127=) c.398C>G n.539C>G | |
11 | g.17387711G>T | CA473515607 | KCNJ11 | c.153C>A (p.Val51=) c.120C>A (p.Val40=) c.381C>A (p.Val127=) c.398C>A n.539C>A | |
11 | g.17387712A>C | CA379774081 | KCNJ11 | c.152T>G (p.Val51Gly) c.119T>G (p.Val40Gly) c.380T>G (p.Val127Gly) c.397T>G n.538T>G | |
11 | g.17387712A>G | CA379774083 | KCNJ11 | c.152T>C (p.Val51Ala) c.119T>C (p.Val40Ala) c.380T>C (p.Val127Ala) c.397T>C n.538T>C | |
11 | g.17387712A>T | CA379774084 | KCNJ11 | c.152T>A (p.Val51Asp) c.119T>A (p.Val40Asp) c.380T>A (p.Val127Asp) c.397T>A n.538T>A | |
11 | g.17387713C>A | CA379774087 | KCNJ11 | c.151G>T (p.Val51Phe) c.118G>T (p.Val40Phe) c.379G>T (p.Val127Phe) c.396G>T n.537G>T | gnomAD v4 |
11 | g.17387713C= | CA1955119361 | KCNJ11 | c.151G= (p.Val51=) c.118G= (p.Val40=) c.379G= (p.Val127=) c.396G= n.537G= | |
11 | g.17387713C>G | CA379774089 | KCNJ11 | c.151G>C (p.Val51Leu) c.118G>C (p.Val40Leu) c.379G>C (p.Val127Leu) c.396G>C n.537G>C | |
11 | g.17387713C>T | CA379774091 | KCNJ11 | c.151G>A (p.Val51Ile) c.118G>A (p.Val40Ile) c.379G>A (p.Val127Ile) c.396G>A n.537G>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17387714C>A | CA379774094 | KCNJ11 | c.150G>T (p.Glu50Asp) c.117G>T (p.Glu39Asp) c.378G>T (p.Glu126Asp) c.395G>T n.536G>T | gnomAD v4 |
11 | g.17387714C= | CA1955119362 | KCNJ11 | c.150G= (p.Glu50=) c.117G= (p.Glu39=) c.378G= (p.Glu126=) c.395G= n.536G= | |
11 | g.17387714C>G | CA379774096 | KCNJ11 | c.150G>C (p.Glu50Asp) c.117G>C (p.Glu39Asp) c.378G>C (p.Glu126Asp) c.395G>C n.536G>C | |
11 | g.17387714C>T | CA473515609 | KCNJ11 | c.150G>A (p.Glu50=) c.117G>A (p.Glu39=) c.378G>A (p.Glu126=) c.395G>A n.536G>A | dbSNP gnomAD v4 |
11 | g.17387715T>A | CA379774101 | KCNJ11 | c.149A>T (p.Glu50Val) c.116A>T (p.Glu39Val) c.377A>T (p.Glu126Val) c.394A>T n.535A>T | |
11 | g.17387715T>C | CA379774100 | KCNJ11 | c.149A>G (p.Glu50Gly) c.116A>G (p.Glu39Gly) c.377A>G (p.Glu126Gly) c.394A>G n.535A>G | |
11 | g.17387715T>G | CA379774099 | KCNJ11 | c.149A>C (p.Glu50Ala) c.116A>C (p.Glu39Ala) c.377A>C (p.Glu126Ala) c.394A>C n.535A>C | |
11 | g.17387716C>A | CA379774103 | KCNJ11 | c.148G>T (p.Glu50Ter) c.115G>T (p.Glu39Ter) c.376G>T (p.Glu126Ter) c.393G>T n.534G>T | |
11 | g.17387716C>G | CA379774105 | KCNJ11 | c.148G>C (p.Glu50Gln) c.115G>C (p.Glu39Gln) c.376G>C (p.Glu126Gln) c.393G>C n.534G>C | |
11 | g.17387716C>T | CA379774106 | KCNJ11 | c.148G>A (p.Glu50Lys) c.115G>A (p.Glu39Lys) c.376G>A (p.Glu126Lys) c.393G>A n.534G>A | |
11 | g.17387717A>C | CA379774109 | KCNJ11 | c.147T>G (p.Ile49Met) c.114T>G (p.Ile38Met) c.375T>G (p.Ile125Met) c.392T>G n.533T>G | gnomAD v4 |
11 | g.17387717A>G | CA473515613 | KCNJ11 | c.147T>C (p.Ile49=) c.114T>C (p.Ile38=) c.375T>C (p.Ile125=) c.392T>C n.533T>C | |
11 | g.17387717A>T | CA473515614 | KCNJ11 | c.147T>A (p.Ile49=) c.114T>A (p.Ile38=) c.375T>A (p.Ile125=) c.392T>A n.533T>A | |
11 | g.17387718A>C | CA379774111 | KCNJ11 | c.146T>G (p.Ile49Ser) c.113T>G (p.Ile38Ser) c.374T>G (p.Ile125Ser) c.391T>G n.532T>G | |
11 | g.17387718A>G | CA379774113 | KCNJ11 | c.146T>C (p.Ile49Thr) c.113T>C (p.Ile38Thr) c.374T>C (p.Ile125Thr) c.391T>C n.532T>C | gnomAD v4 |
11 | g.17387718A>T | CA379774115 | KCNJ11 | c.146T>A (p.Ile49Asn) c.113T>A (p.Ile38Asn) c.374T>A (p.Ile125Asn) c.391T>A n.532T>A | |
11 | g.17387719T>A | CA379774117 | KCNJ11 | c.145A>T (p.Ile49Phe) c.112A>T (p.Ile38Phe) c.373A>T (p.Ile125Phe) c.390A>T n.531A>T | |
11 | g.17387719T>C | CA379774119 | KCNJ11 | c.145A>G (p.Ile49Val) c.112A>G (p.Ile38Val) c.373A>G (p.Ile125Val) c.390A>G n.531A>G | |
11 | g.17387719T>G | CA379774121 | KCNJ11 | c.145A>C (p.Ile49Leu) c.112A>C (p.Ile38Leu) c.373A>C (p.Ile125Leu) c.390A>C n.531A>C | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17387719T= | CA1955119363 | KCNJ11 | c.145A= (p.Ile49=) c.112A= (p.Ile38=) c.373A= (p.Ile125=) c.390A= n.531A= |