Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
11 | g.128840059A>C | CA383246858 | KCNJ1 | c.185T>G (p.Met62Arg) c.242T>G (p.Met81Arg) c.236T>G (p.Met79Arg) | |
11 | g.128840059A>G | CA383246860 | KCNJ1 | c.185T>C (p.Met62Thr) c.242T>C (p.Met81Thr) c.236T>C (p.Met79Thr) | gnomAD v4 |
11 | g.128840059A>T | CA383246863 | KCNJ1 | c.185T>A (p.Met62Lys) c.242T>A (p.Met81Lys) c.236T>A (p.Met79Lys) | |
11 | g.128840060T>A | CA383246865 | KCNJ1 | c.184A>T (p.Met62Leu) c.241A>T (p.Met81Leu) c.235A>T (p.Met79Leu) | |
11 | g.128840060T>C | CA383246867 | KCNJ1 | c.184A>G (p.Met62Val) c.241A>G (p.Met81Val) c.235A>G (p.Met79Val) | |
11 | g.128840060T>G | CA383246870 | KCNJ1 | c.184A>C (p.Met62Leu) c.241A>C (p.Met81Leu) c.235A>C (p.Met79Leu) | |
11 | g.128840061T>A | CA383246875 | KCNJ1 | c.183A>T (p.Lys61Asn) c.240A>T (p.Lys80Asn) c.234A>T (p.Lys78Asn) | |
11 | g.128840061T>C | CA477703298 | KCNJ1 | c.183A>G (p.Lys61=) c.240A>G (p.Lys80=) c.234A>G (p.Lys78=) | |
11 | g.128840061T>G | CA383246872 | KCNJ1 | c.183A>C (p.Lys61Asn) c.240A>C (p.Lys80Asn) c.234A>C (p.Lys78Asn) | |
11 | g.128840062T>A | CA383246880 | KCNJ1 | c.182A>T (p.Lys61Ile) c.239A>T (p.Lys80Ile) c.233A>T (p.Lys78Ile) | |
11 | g.128840062T>C | CA383246883 | KCNJ1 | c.182A>G (p.Lys61Arg) c.239A>G (p.Lys80Arg) c.233A>G (p.Lys78Arg) | |
11 | g.128840062T>G | CA383246885 | KCNJ1 | c.182A>C (p.Lys61Thr) c.239A>C (p.Lys80Thr) c.233A>C (p.Lys78Thr) | |
11 | g.128840063T>A | CA383246889 | KCNJ1 | c.181A>T (p.Lys61Ter) c.238A>T (p.Lys80Ter) c.232A>T (p.Lys78Ter) | |
11 | g.128840063T>C | CA383246892 | KCNJ1 | c.181A>G (p.Lys61Glu) c.238A>G (p.Lys80Glu) c.232A>G (p.Lys78Glu) | COSMIC |
11 | g.128840063T>G | CA383246895 | KCNJ1 | c.181A>C (p.Lys61Gln) c.238A>C (p.Lys80Gln) c.232A>C (p.Lys78Gln) | |
11 | g.128840064G>A | CA6357557 | KCNJ1 | c.180C>T (p.Tyr60=) c.237C>T (p.Tyr79=) n.525C>T c.231C>T (p.Tyr77=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128840064G>C | CA120150 | KCNJ1 | c.180C>G (p.Tyr60Ter) c.237C>G (p.Tyr79Ter) n.525C>G c.231C>G (p.Tyr77Ter) | ClinVar dbSNP gnomAD v4 |
11 | g.128840064G= | CA2008251664 | KCNJ1 | c.180C= (p.Tyr60=) c.237C= (p.Tyr79=) n.525C= c.231C= (p.Tyr77=) | |
11 | g.128840064G>T | CA383246902 | KCNJ1 | c.180C>A (p.Tyr60Ter) c.237C>A (p.Tyr79Ter) n.525C>A c.231C>A (p.Tyr77Ter) | |
11 | g.128840065T>A | CA383246906 | KCNJ1 | c.179A>T (p.Tyr60Phe) c.236A>T (p.Tyr79Phe) n.524A>T c.230A>T (p.Tyr77Phe) | gnomAD v4 |
11 | g.128840065T>C | CA383246908 | KCNJ1 | c.179A>G (p.Tyr60Cys) c.236A>G (p.Tyr79Cys) n.524A>G c.230A>G (p.Tyr77Cys) | dbSNP gnomAD v4 |
11 | g.128840065T>G | CA383246910 | KCNJ1 | c.179A>C (p.Tyr60Ser) c.236A>C (p.Tyr79Ser) n.524A>C c.230A>C (p.Tyr77Ser) | |
11 | g.128840065T= | CA2008251671 | KCNJ1 | c.179A= (p.Tyr60=) c.236A= (p.Tyr79=) n.524A= c.230A= (p.Tyr77=) | |
11 | g.128840066A= | CA2008251674 | KCNJ1 | c.178T= (p.Tyr60=) c.235T= (p.Tyr79=) n.523T= c.229T= (p.Tyr77=) | |
11 | g.128840066A>C | CA383246913 | KCNJ1 | c.178T>G (p.Tyr60Asp) c.235T>G (p.Tyr79Asp) n.523T>G c.229T>G (p.Tyr77Asp) | |
11 | g.128840066A>G | CA383246915 | KCNJ1 | c.178T>C (p.Tyr60His) c.235T>C (p.Tyr79His) n.523T>C c.229T>C (p.Tyr77His) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128840066A>T | CA383246917 | KCNJ1 | c.178T>A (p.Tyr60Asn) c.235T>A (p.Tyr79Asn) n.523T>A c.229T>A (p.Tyr77Asn) | |
11 | g.128840067T>A | CA383246922 | KCNJ1 | c.177A>T (p.Arg59Ser) c.234A>T (p.Arg78Ser) n.522A>T c.228A>T (p.Arg76Ser) | |
11 | g.128840067T>C | CA477703307 | KCNJ1 | c.177A>G (p.Arg59=) c.234A>G (p.Arg78=) n.522A>G c.228A>G (p.Arg76=) | |
11 | g.128840067T>G | CA383246924 | KCNJ1 | c.177A>C (p.Arg59Ser) c.234A>C (p.Arg78Ser) n.522A>C c.228A>C (p.Arg76Ser) | COSMIC |
11 | g.128840068C>A | CA383246927 | KCNJ1 | c.176G>T (p.Arg59Ile) c.233G>T (p.Arg78Ile) n.521G>T c.227G>T (p.Arg76Ile) | |
11 | g.128840068C>G | CA383246929 | KCNJ1 | c.176G>C (p.Arg59Thr) c.233G>C (p.Arg78Thr) n.521G>C c.227G>C (p.Arg76Thr) | |
11 | g.128840068C>T | CA383246931 | KCNJ1 | c.176G>A (p.Arg59Lys) c.233G>A (p.Arg78Lys) n.521G>A c.227G>A (p.Arg76Lys) | |
11 | g.128840069del | CA2616771387 | KCNJ1 | c.175del (p.Arg59AspfsTer4) c.232del (p.Arg78AspfsTer4) n.520del c.226del (p.Arg76AspfsTer4) | gnomAD v4 |
11 | g.128840069T>A | CA383246935 | KCNJ1 | c.175A>T (p.Arg59Ter) c.232A>T (p.Arg78Ter) n.520A>T c.226A>T (p.Arg76Ter) | |
11 | g.128840069T>C | CA383246938 | KCNJ1 | c.175A>G (p.Arg59Gly) c.232A>G (p.Arg78Gly) n.520A>G c.226A>G (p.Arg76Gly) | |
11 | g.128840069T>G | CA477703310 | KCNJ1 | c.175A>C (p.Arg59=) c.232A>C (p.Arg78=) n.520A>C c.226A>C (p.Arg76=) | |
11 | g.128840070C>A | CA383246941 | KCNJ1 | c.174G>T (p.Trp58Cys) c.231G>T (p.Trp77Cys) n.519G>T c.225G>T (p.Trp75Cys) | |
11 | g.128840070C>G | CA383246947 | KCNJ1 | c.174G>C (p.Trp58Cys) c.231G>C (p.Trp77Cys) n.519G>C c.225G>C (p.Trp75Cys) | |
11 | g.128840070C>T | CA383246942 | KCNJ1 | c.174G>A (p.Trp58Ter) c.231G>A (p.Trp77Ter) n.519G>A c.225G>A (p.Trp75Ter) | ClinVar |
11 | g.128840071C>A | CA383246948 | KCNJ1 | c.173G>T (p.Trp58Leu) c.230G>T (p.Trp77Leu) n.518G>T c.224G>T (p.Trp75Leu) | |
11 | g.128840071C= | CA2008251677 | KCNJ1 | c.173G= (p.Trp58=) c.230G= (p.Trp77=) n.518G= c.224G= (p.Trp75=) | |
11 | g.128840071C>G | CA383246949 | KCNJ1 | c.173G>C (p.Trp58Ser) c.230G>C (p.Trp77Ser) n.518G>C c.224G>C (p.Trp75Ser) | |
11 | g.128840071C>T | CA383246950 | KCNJ1 | c.173G>A (p.Trp58Ter) c.230G>A (p.Trp77Ter) n.518G>A c.224G>A (p.Trp75Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128840072A>C | CA383246951 | KCNJ1 | c.172T>G (p.Trp58Gly) c.229T>G (p.Trp77Gly) n.517T>G c.223T>G (p.Trp75Gly) | |
11 | g.128840072A>G | CA383246952 | KCNJ1 | c.172T>C (p.Trp58Arg) c.229T>C (p.Trp77Arg) n.517T>C c.223T>C (p.Trp75Arg) | gnomAD v4 |
11 | g.128840072A>T | CA383246953 | KCNJ1 | c.172T>A (p.Trp58Arg) c.229T>A (p.Trp77Arg) n.517T>A c.223T>A (p.Trp75Arg) | |
11 | g.128840073C>A | CA383246954 | KCNJ1 | c.171G>T (p.Lys57Asn) c.228G>T (p.Lys76Asn) n.516G>T c.222G>T (p.Lys74Asn) | |
11 | g.128840073C= | CA2008251682 | KCNJ1 | c.171G= (p.Lys57=) c.228G= (p.Lys76=) n.516G= c.222G= (p.Lys74=) | |
11 | g.128840073C>G | CA383246956 | KCNJ1 | c.171G>C (p.Lys57Asn) c.228G>C (p.Lys76Asn) n.516G>C c.222G>C (p.Lys74Asn) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128840073C>T | CA6357558 | KCNJ1 | c.171G>A (p.Lys57=) c.228G>A (p.Lys76=) n.516G>A c.222G>A (p.Lys74=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128840074T>A | CA383246960 | KCNJ1 | c.170A>T (p.Lys57Met) c.227A>T (p.Lys76Met) n.515A>T c.221A>T (p.Lys74Met) | |
11 | g.128840074T>C | CA383246962 | KCNJ1 | c.170A>G (p.Lys57Arg) c.227A>G (p.Lys76Arg) n.515A>G c.221A>G (p.Lys74Arg) | COSMIC |
11 | g.128840074T>G | CA383246965 | KCNJ1 | c.170A>C (p.Lys57Thr) c.227A>C (p.Lys76Thr) n.515A>C c.221A>C (p.Lys74Thr) | |
11 | g.128840075T>A | CA383246973 | KCNJ1 | c.169A>T (p.Lys57Ter) c.226A>T (p.Lys76Ter) n.514A>T c.220A>T (p.Lys74Ter) | |
11 | g.128840075T>C | CA383246970 | KCNJ1 | c.169A>G (p.Lys57Glu) c.226A>G (p.Lys76Glu) n.514A>G c.220A>G (p.Lys74Glu) | dbSNP gnomAD v4 |
11 | g.128840075T>G | CA383246967 | KCNJ1 | c.169A>C (p.Lys57Gln) c.226A>C (p.Lys76Gln) n.514A>C c.220A>C (p.Lys74Gln) | gnomAD v4 |
11 | g.128840075T= | CA2008251686 | KCNJ1 | c.169A= (p.Lys57=) c.226A= (p.Lys76=) n.514A= c.220A= (p.Lys74=) | |
11 | g.128840076G>A | CA6357559 | KCNJ1 | c.168C>T (p.Leu56=) c.225C>T (p.Leu75=) n.513C>T c.219C>T (p.Leu73=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128840076G>C | CA477703320 | KCNJ1 | c.168C>G (p.Leu56=) c.225C>G (p.Leu75=) n.513C>G c.219C>G (p.Leu73=) | COSMIC |
11 | g.128840076G= | CA2008251696 | KCNJ1 | c.168C= (p.Leu56=) c.225C= (p.Leu75=) n.513C= c.219C= (p.Leu73=) | |
11 | g.128840076G>T | CA477703321 | KCNJ1 | c.168C>A (p.Leu56=) c.225C>A (p.Leu75=) n.513C>A c.219C>A (p.Leu73=) | |
11 | g.128840077A>C | CA383246978 | KCNJ1 | c.167T>G (p.Leu56Arg) c.224T>G (p.Leu75Arg) n.512T>G c.218T>G (p.Leu73Arg) | |
11 | g.128840077A>G | CA383246980 | KCNJ1 | c.167T>C (p.Leu56Pro) c.224T>C (p.Leu75Pro) n.512T>C c.218T>C (p.Leu73Pro) | |
11 | g.128840077A>T | CA383246983 | KCNJ1 | c.167T>A (p.Leu56His) c.224T>A (p.Leu75His) n.512T>A c.218T>A (p.Leu73His) | |
11 | g.128840078G>A | CA383246987 | KCNJ1 | c.166C>T (p.Leu56Phe) c.223C>T (p.Leu75Phe) n.511C>T c.217C>T (p.Leu73Phe) | gnomAD v4 |
11 | g.128840078G>C | CA383246989 | KCNJ1 | c.166C>G (p.Leu56Val) c.223C>G (p.Leu75Val) n.511C>G c.217C>G (p.Leu73Val) | |
11 | g.128840078G>T | CA383246990 | KCNJ1 | c.166C>A (p.Leu56Ile) c.223C>A (p.Leu75Ile) n.511C>A c.217C>A (p.Leu73Ile) | COSMIC |
11 | g.128840079G>A | CA477703322 | KCNJ1 | c.165C>T (p.Asp55=) c.222C>T (p.Asp74=) n.510C>T c.216C>T (p.Asp72=) | |
11 | g.128840079G>C | CA383246993 | KCNJ1 | c.165C>G (p.Asp55Glu) c.222C>G (p.Asp74Glu) n.510C>G c.216C>G (p.Asp72Glu) | |
11 | g.128840079G>T | CA383246995 | KCNJ1 | c.165C>A (p.Asp55Glu) c.222C>A (p.Asp74Glu) n.510C>A c.216C>A (p.Asp72Glu) | |
11 | g.128840080T>A | CA383247000 | KCNJ1 | c.164A>T (p.Asp55Val) c.221A>T (p.Asp74Val) n.509A>T c.215A>T (p.Asp72Val) | |
11 | g.128840080T>C | CA383247001 | KCNJ1 | c.164A>G (p.Asp55Gly) c.221A>G (p.Asp74Gly) n.509A>G c.215A>G (p.Asp72Gly) | |
11 | g.128840080T>G | CA383247003 | KCNJ1 | c.164A>C (p.Asp55Ala) c.221A>C (p.Asp74Ala) n.509A>C c.215A>C (p.Asp72Ala) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128840080T= | CA2008251701 | KCNJ1 | c.164A= (p.Asp55=) c.221A= (p.Asp74=) n.509A= c.215A= (p.Asp72=) | |
11 | g.128840081C>A | CA383247010 | KCNJ1 | c.163G>T (p.Asp55Tyr) c.220G>T (p.Asp74Tyr) n.508G>T c.214G>T (p.Asp72Tyr) | ClinVar |
11 | g.128840081C>G | CA383247006 | KCNJ1 | c.163G>C (p.Asp55His) c.220G>C (p.Asp74His) n.508G>C c.214G>C (p.Asp72His) | |
11 | g.128840081C>T | CA383247007 | KCNJ1 | c.163G>A (p.Asp55Asn) c.220G>A (p.Asp74Asn) n.508G>A c.214G>A (p.Asp72Asn) | |
11 | g.128840082A>C | CA477703325 | KCNJ1 | c.162T>G (p.Leu54=) c.219T>G (p.Leu73=) n.507T>G c.213T>G (p.Leu71=) | |
11 | g.128840082A>G | CA477703326 | KCNJ1 | c.162T>C (p.Leu54=) c.219T>C (p.Leu73=) n.507T>C c.213T>C (p.Leu71=) | |
11 | g.128840082A>T | CA477703327 | KCNJ1 | c.162T>A (p.Leu54=) c.219T>A (p.Leu73=) n.507T>A c.213T>A (p.Leu71=) | |
11 | g.128840083A>C | CA383247014 | KCNJ1 | c.161T>G (p.Leu54Arg) c.218T>G (p.Leu73Arg) n.506T>G c.212T>G (p.Leu71Arg) | |
11 | g.128840083A>G | CA383247019 | KCNJ1 | c.161T>C (p.Leu54Pro) c.218T>C (p.Leu73Pro) n.506T>C c.212T>C (p.Leu71Pro) | |
11 | g.128840083A>T | CA383247016 | KCNJ1 | c.161T>A (p.Leu54His) c.218T>A (p.Leu73His) n.506T>A c.212T>A (p.Leu71His) | |
11 | g.128840084G>A | CA383247023 | KCNJ1 | c.160C>T (p.Leu54Phe) c.217C>T (p.Leu73Phe) n.505C>T c.211C>T (p.Leu71Phe) | |
11 | g.128840084G>C | CA383247025 | KCNJ1 | c.160C>G (p.Leu54Val) c.217C>G (p.Leu73Val) n.505C>G c.211C>G (p.Leu71Val) | |
11 | g.128840084G>T | CA383247027 | KCNJ1 | c.160C>A (p.Leu54Ile) c.217C>A (p.Leu73Ile) n.505C>A c.211C>A (p.Leu71Ile) |