OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.21703105del | CA727080410 | KCNJ18 | c.319del (p.Val107TrpfsTer18) c.625del (p.Val209TrpfsTer18) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.21703105G>A | CA398488425 | KCNJ18 | c.319G>A (p.Val107Met) c.625G>A (p.Val209Met) | gnomAD v4 |
| 17 | g.21703105G>C | CA398488429 | KCNJ18 | c.319G>C (p.Val107Leu) c.625G>C (p.Val209Leu) | |
| 17 | g.21703105G= | CA2252140785 | KCNJ18 | c.319G= (p.Val107=) c.625G= (p.Val209=) | |
| 17 | g.21703105G>T | CA398488427 | KCNJ18 | c.319G>T (p.Val107Leu) c.625G>T (p.Val209Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.21703106T>A | CA398488430 | KCNJ18 | c.320T>A (p.Val107Glu) c.626T>A (p.Val209Glu) | |
| 17 | g.21703106T>C | CA398488434 | KCNJ18 | c.320T>C (p.Val107Ala) c.626T>C (p.Val209Ala) | |
| 17 | g.21703106T>G | CA398488432 | KCNJ18 | c.320T>G (p.Val107Gly) c.626T>G (p.Val209Gly) | |
| 17 | g.21703107G>T | CA2636725057 | KCNJ18 | c.321G>T (p.Val107=) c.627G>T (p.Val209=) | gnomAD v4 |
| 17 | g.21703108G>A | CA398488436 | KCNJ18 | c.322G>A (p.Ala108Thr) c.628G>A (p.Ala210Thr) | gnomAD v4 |
| 17 | g.21703108G>C | CA398488439 | KCNJ18 | c.322G>C (p.Ala108Pro) c.628G>C (p.Ala210Pro) | gnomAD v4 |
| 17 | g.21703108G>T | CA398488437 | KCNJ18 | c.322G>T (p.Ala108Ser) c.628G>T (p.Ala210Ser) | |
| 17 | g.21703109C>A | CA398488441 | KCNJ18 | c.323C>A (p.Ala108Glu) c.629C>A (p.Ala210Glu) | gnomAD v4 |
| 17 | g.21703109C>G | CA398488442 | KCNJ18 | c.323C>G (p.Ala108Gly) c.629C>G (p.Ala210Gly) | |
| 17 | g.21703109C>T | CA398488443 | KCNJ18 | c.323C>T (p.Ala108Val) c.629C>T (p.Ala210Val) | gnomAD v4 |
| 17 | g.21703110A= | CA2252140786 | KCNJ18 | c.324A= (p.Ala108=) c.630A= (p.Ala210=) | |
| 17 | g.21703110A>T | CA727080421 | KCNJ18 | c.324A>T (p.Ala108=) c.630A>T (p.Ala210=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.21703111C>A | CA398488445 | KCNJ18 | c.325C>A (p.His109Asn) c.631C>A (p.His211Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.21703111C= | CA2252140787 | KCNJ18 | c.325C= (p.His109=) c.631C= (p.His211=) | |
| 17 | g.21703111C>G | CA398488447 | KCNJ18 | c.325C>G (p.His109Asp) c.631C>G (p.His211Asp) | dbSNP gnomAD v4 |
| 17 | g.21703111C>T | CA398488449 | KCNJ18 | c.325C>T (p.His109Tyr) c.631C>T (p.His211Tyr) | gnomAD v4 |
| 17 | g.21703112A>C | CA398488451 | KCNJ18 | c.326A>C (p.His109Pro) c.632A>C (p.His211Pro) | |
| 17 | g.21703112A>G | CA398488452 | KCNJ18 | c.326A>G (p.His109Arg) c.632A>G (p.His211Arg) | |
| 17 | g.21703112A>T | CA398488455 | KCNJ18 | c.326A>T (p.His109Leu) c.632A>T (p.His211Leu) | |
| 17 | g.21703113C>A | CA398488456 | KCNJ18 | c.327C>A (p.His109Gln) c.633C>A (p.His211Gln) | gnomAD v4 |
| 17 | g.21703113C= | CA2252140788 | KCNJ18 | c.327C= (p.His109=) c.633C= (p.His211=) | |
| 17 | g.21703113C>G | CA398488458 | KCNJ18 | c.327C>G (p.His109Gln) c.633C>G (p.His211Gln) | dbSNP gnomAD v4 |
| 17 | g.21703113C>T | CA727080428 | KCNJ18 | c.327C>T (p.His109=) c.633C>T (p.His211=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.21703114G>A | CA398488463 | KCNJ18 | c.328G>A (p.Gly110Ser) c.634G>A (p.Gly212Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.21703114G>C | CA398488460 | KCNJ18 | c.328G>C (p.Gly110Arg) c.634G>C (p.Gly212Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.21703114G= | CA2252140789 | KCNJ18 | c.328G= (p.Gly110=) c.634G= (p.Gly212=) | |
| 17 | g.21703114G>T | CA398488461 | KCNJ18 | c.328G>T (p.Gly110Cys) c.634G>T (p.Gly212Cys) | gnomAD v4 |
| 17 | g.21703115del | CA2636725059 | KCNJ18 | c.329del (p.Gly110ValfsTer15) c.635del (p.Gly212ValfsTer15) | gnomAD v4 |
| 17 | g.21703116_21703123dup | CA2636725058 | KCNJ18 | c.330_337dup (p.Glu113ValfsTer15) c.636_643dup (p.Glu215ValfsTer15) | gnomAD v4 |
| 17 | g.21703115G>A | CA398488465 | KCNJ18 | c.329G>A (p.Gly110Asp) c.635G>A (p.Gly212Asp) | gnomAD v3 gnomAD v4 |
| 17 | g.21703115G>C | CA398488467 | KCNJ18 | c.329G>C (p.Gly110Ala) c.635G>C (p.Gly212Ala) | |
| 17 | g.21703115G= | CA2252140790 | KCNJ18 | c.329G= (p.Gly110=) c.635G= (p.Gly212=) | |
| 17 | g.21703115G>T | CA398488468 | KCNJ18 | c.329G>T (p.Gly110Val) c.635G>T (p.Gly212Val) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.21703116T>G | CA982311979 | KCNJ18 | c.330T>G (p.Gly110=) c.636T>G (p.Gly212=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.21703116T= | CA2252140791 | KCNJ18 | c.330T= (p.Gly110=) c.636T= (p.Gly212=) | |
| 17 | g.21703117G>A | CA398488470 | KCNJ18 | c.331G>A (p.Asp111Asn) c.637G>A (p.Asp213Asn) | gnomAD v4 |
| 17 | g.21703117G>C | CA398488472 | KCNJ18 | c.331G>C (p.Asp111His) c.637G>C (p.Asp213His) | |
| 17 | g.21703117G>T | CA398488473 | KCNJ18 | c.331G>T (p.Asp111Tyr) c.637G>T (p.Asp213Tyr) | gnomAD v4 |
| 17 | g.21703118A= | CA2252140792 | KCNJ18 | c.332A= (p.Asp111=) c.638A= (p.Asp213=) | |
| 17 | g.21703118A>C | CA398488474 | KCNJ18 | c.332A>C (p.Asp111Ala) c.638A>C (p.Asp213Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.21703118A>G | CA398488476 | KCNJ18 | c.332A>G (p.Asp111Gly) c.638A>G (p.Asp213Gly) | gnomAD v4 |
| 17 | g.21703118A>T | CA398488478 | KCNJ18 | c.332A>T (p.Asp111Val) c.638A>T (p.Asp213Val) | |
| 17 | g.21703118_21703119delinsAC | CA2252140793 | KCNJ18 | c.332_333delinsAC (p.Asp111=) c.638_639delinsAC (p.Asp213=) | |
| 17 | g.21703119C>A | CA398488480 | KCNJ18 | c.333C>A (p.Asp111Glu) c.639C>A (p.Asp213Glu) | |
| 17 | g.21703119C= | CA2252140795 | KCNJ18 | c.333C= (p.Asp111=) c.639C= (p.Asp213=) | |
| 17 | g.21703119C>G | CA398488481 | KCNJ18 | c.333C>G (p.Asp111Glu) c.639C>G (p.Asp213Glu) | dbSNP gnomAD v4 |
| 17 | g.21703119C>T | CA2252140796 | KCNJ18 | c.333C>T (p.Asp111=) c.639C>T (p.Asp213=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.21703120del | CA2252140794 | KCNJ18 | c.334del (p.Leu112TrpfsTer13) c.640del (p.Leu214TrpfsTer13) | dbSNP gnomAD v4 |
| 17 | g.21703120C>A | CA398488483 | KCNJ18 | c.334C>A (p.Leu112Met) c.640C>A (p.Leu214Met) | gnomAD v4 |
| 17 | g.21703120C= | CA2252140797 | KCNJ18 | c.334C= (p.Leu112=) c.640C= (p.Leu214=) | |
| 17 | g.21703120C>G | CA398488485 | KCNJ18 | c.334C>G (p.Leu112Val) c.640C>G (p.Leu214Val) | dbSNP |
| 17 | g.21703123_21703132del | CA2636725060 | KCNJ18 | c.337_346del (p.Glu113ArgfsTer9) c.643_652del (p.Glu215ArgfsTer9) | gnomAD v4 |
| 17 | g.21703121T>A | CA398488487 | KCNJ18 | c.335T>A (p.Leu112Gln) c.641T>A (p.Leu214Gln) | dbSNP gnomAD v4 |
| 17 | g.21703121T>C | CA398488488 | KCNJ18 | c.335T>C (p.Leu112Pro) c.641T>C (p.Leu214Pro) | gnomAD v4 |
| 17 | g.21703121T>G | CA398488490 | KCNJ18 | c.335T>G (p.Leu112Arg) c.641T>G (p.Leu214Arg) | gnomAD v4 |
| 17 | g.21703123G>A | CA398488492 | KCNJ18 | c.337G>A (p.Glu113Lys) c.643G>A (p.Glu215Lys) | gnomAD v4 |
| 17 | g.21703123G>C | CA398488493 | KCNJ18 | c.337G>C (p.Glu113Gln) c.643G>C (p.Glu215Gln) | |
| 17 | g.21703123G>T | CA398488495 | KCNJ18 | c.337G>T (p.Glu113Ter) c.643G>T (p.Glu215Ter) | gnomAD v4 |
| 17 | g.21703124A>C | CA398488498 | KCNJ18 | c.338A>C (p.Glu113Ala) c.644A>C (p.Glu215Ala) | |
| 17 | g.21703124A>G | CA398488499 | KCNJ18 | c.338A>G (p.Glu113Gly) c.644A>G (p.Glu215Gly) | |
| 17 | g.21703124A>T | CA398488501 | KCNJ18 | c.338A>T (p.Glu113Val) c.644A>T (p.Glu215Val) | |
| 17 | g.21703125G>A | CA2502173206 | KCNJ18 | c.339G>A (p.Glu113=) c.645G>A (p.Glu215=) | |
| 17 | g.21703125G>C | CA398488503 | KCNJ18 | c.339G>C (p.Glu113Asp) c.645G>C (p.Glu215Asp) | |
| 17 | g.21703125G>T | CA398488504 | KCNJ18 | c.339G>T (p.Glu113Asp) c.645G>T (p.Glu215Asp) | gnomAD v4 |
| 17 | g.21703126C>A | CA398488508 | KCNJ18 | c.340C>A (p.Pro114Thr) c.646C>A (p.Pro216Thr) | gnomAD v4 |
| 17 | g.21703126C>G | CA398488507 | KCNJ18 | c.340C>G (p.Pro114Ala) c.646C>G (p.Pro216Ala) | |
| 17 | g.21703126C>T | CA398488506 | KCNJ18 | c.340C>T (p.Pro114Ser) c.646C>T (p.Pro216Ser) | gnomAD v4 |
| 17 | g.21703127C>A | CA398488510 | KCNJ18 | c.341C>A (p.Pro114Gln) c.647C>A (p.Pro216Gln) | gnomAD v4 |
| 17 | g.21703127C= | CA2252140798 | KCNJ18 | c.341C= (p.Pro114=) c.647C= (p.Pro216=) | |
| 17 | g.21703127C>G | CA398488512 | KCNJ18 | c.341C>G (p.Pro114Arg) c.647C>G (p.Pro216Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.21703127C>T | CA398488514 | KCNJ18 | c.341C>T (p.Pro114Leu) c.647C>T (p.Pro216Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.21703128G>A | CA727080454 | KCNJ18 | c.342G>A (p.Pro114=) c.648G>A (p.Pro216=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.21703128G= | CA2252140799 | KCNJ18 | c.342G= (p.Pro114=) c.648G= (p.Pro216=) | |
| 17 | g.21703128G>T | CA2636725061 | KCNJ18 | c.342G>T (p.Pro114=) c.648G>T (p.Pro216=) | gnomAD v4 |
| 17 | g.21703129G>A | CA398488515 | KCNJ18 | c.343G>A (p.Ala115Thr) c.649G>A (p.Ala217Thr) | gnomAD v4 |
| 17 | g.21703129G>C | CA398488517 | KCNJ18 | c.343G>C (p.Ala115Pro) c.649G>C (p.Ala217Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.21703129G>T | CA398488519 | KCNJ18 | c.343G>T (p.Ala115Ser) c.649G>T (p.Ala217Ser) | gnomAD v4 |
| 17 | g.21703130C>A | CA398488521 | KCNJ18 | c.344C>A (p.Ala115Asp) c.650C>A (p.Ala217Asp) | gnomAD v4 |
| 17 | g.21703130C>G | CA398488522 | KCNJ18 | c.344C>G (p.Ala115Gly) c.650C>G (p.Ala217Gly) | gnomAD v4 |
| 17 | g.21703130C>T | CA398488524 | KCNJ18 | c.344C>T (p.Ala115Val) c.650C>T (p.Ala217Val) | gnomAD v4 |
| 17 | g.21703131T>C | CA2252140801 | KCNJ18 | c.345T>C (p.Ala115=) c.651T>C (p.Ala217=) | dbSNP gnomAD v4 |
| 17 | g.21703131T= | CA2252140800 | KCNJ18 | c.345T= (p.Ala115=) c.651T= (p.Ala217=) | |
| 17 | g.21703132G>A | CA398488526 | KCNJ18 | c.346G>A (p.Glu116Lys) c.652G>A (p.Glu218Lys) | |
| 17 | g.21703132G>C | CA398488528 | KCNJ18 | c.346G>C (p.Glu116Gln) c.652G>C (p.Glu218Gln) | |
| 17 | g.21703132G>T | CA398488529 | KCNJ18 | c.346G>T (p.Glu116Ter) c.652G>T (p.Glu218Ter) | gnomAD v4 |
| 17 | g.21703133A>C | CA398488533 | KCNJ18 | c.347A>C (p.Glu116Ala) c.653A>C (p.Glu218Ala) | |
| 17 | g.21703133A>G | CA398488534 | KCNJ18 | c.347A>G (p.Glu116Gly) c.653A>G (p.Glu218Gly) | dbSNP |
| 17 | g.21703133A>T | CA398488532 | KCNJ18 | c.347A>T (p.Glu116Val) c.653A>T (p.Glu218Val) | |
| 17 | g.21703134G>C | CA398488538 | KCNJ18 | c.348G>C (p.Glu116Asp) c.654G>C (p.Glu218Asp) | |
| 17 | g.21703134G>T | CA398488537 | KCNJ18 | c.348G>T (p.Glu116Asp) c.654G>T (p.Glu218Asp) | gnomAD v4 |
| 17 | g.21703135G>A | CA398488540 | KCNJ18 | c.349G>A (p.Gly117Ser) c.655G>A (p.Gly219Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.21703135G>C | CA398488541 | KCNJ18 | c.349G>C (p.Gly117Arg) c.655G>C (p.Gly219Arg) | |
| 17 | g.21703135G= | CA2252140802 | KCNJ18 | c.349G= (p.Gly117=) c.655G= (p.Gly219=) | |
| 17 | g.21703135G>T | CA398488542 | KCNJ18 | c.349G>T (p.Gly117Cys) c.655G>T (p.Gly219Cys) | gnomAD v4 |
| 17 | g.21703136G>A | CA398488545 | KCNJ18 | c.350G>A (p.Gly117Asp) c.656G>A (p.Gly219Asp) | gnomAD v4 |
| 17 | g.21703136G>C | CA398488547 | KCNJ18 | c.350G>C (p.Gly117Ala) c.656G>C (p.Gly219Ala) | |
| 17 | g.21703136G>T | CA398488548 | KCNJ18 | c.350G>T (p.Gly117Val) c.656G>T (p.Gly219Val) | |
| 17 | g.21703137C>A | CA2636725062 | KCNJ18 | c.351C>A (p.Gly117=) c.657C>A (p.Gly219=) | gnomAD v4 |
| 17 | g.21703137C= | CA2252140803 | KCNJ18 | c.351C= (p.Gly117=) c.657C= (p.Gly219=) | |
| 17 | g.21703137C>G | CA2252140804 | KCNJ18 | c.351C>G (p.Gly117=) c.657C>G (p.Gly219=) | dbSNP |
| 17 | g.21703137C>T | CA2636725063 | KCNJ18 | c.351C>T (p.Gly117=) c.657C>T (p.Gly219=) | gnomAD v4 |
| 17 | g.21703138C>A | CA398488549 | KCNJ18 | c.352C>A (p.His118Asn) c.658C>A (p.His220Asn) | |
| 17 | g.21703138C>G | CA398488550 | KCNJ18 | c.352C>G (p.His118Asp) c.658C>G (p.His220Asp) | |
| 17 | g.21703138C>T | CA398488551 | KCNJ18 | c.352C>T (p.His118Tyr) c.658C>T (p.His220Tyr) | gnomAD v3 gnomAD v4 |
| 17 | g.21703141_21703150del | CA2636725064 | KCNJ18 | c.355_364del (p.Gly119ProfsTer3) c.661_670del (p.Gly221ProfsTer3) | gnomAD v4 |
| 17 | g.21703139A= | CA2252140805 | KCNJ18 | c.353A= (p.His118=) c.659A= (p.His220=) | |
| 17 | g.21703139A>C | CA398488552 | KCNJ18 | c.353A>C (p.His118Pro) c.659A>C (p.His220Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.21703139A>G | CA398488553 | KCNJ18 | c.353A>G (p.His118Arg) c.659A>G (p.His220Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.21703139A>T | CA398488554 | KCNJ18 | c.353A>T (p.His118Leu) c.659A>T (p.His220Leu) | |
| 17 | g.21703140C>A | CA398488555 | KCNJ18 | c.354C>A (p.His118Gln) c.660C>A (p.His220Gln) | dbSNP gnomAD v4 |
| 17 | g.21703140C= | CA2252140806 | KCNJ18 | c.354C= (p.His118=) c.660C= (p.His220=) | |
| 17 | g.21703140C>G | CA398488556 | KCNJ18 | c.354C>G (p.His118Gln) c.660C>G (p.His220Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.21703140C>T | CA982311980 | KCNJ18 | c.354C>T (p.His118=) c.660C>T (p.His220=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.21703141G>A | CA398488557 | KCNJ18 | c.355G>A (p.Gly119Ser) c.661G>A (p.Gly221Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.21703141G>C | CA398488558 | KCNJ18 | c.355G>C (p.Gly119Arg) c.661G>C (p.Gly221Arg) | dbSNP |
| 17 | g.21703141G= | CA2252140807 | KCNJ18 | c.355G= (p.Gly119=) c.661G= (p.Gly221=) | |
| 17 | g.21703141G>T | CA398488559 | KCNJ18 | c.355G>T (p.Gly119Cys) c.661G>T (p.Gly221Cys) | gnomAD v4 |
| 17 | g.21703142G>A | CA398488560 | KCNJ18 | c.356G>A (p.Gly119Asp) c.662G>A (p.Gly221Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.21703142G>C | CA398488561 | KCNJ18 | c.356G>C (p.Gly119Ala) c.662G>C (p.Gly221Ala) | |
| 17 | g.21703142G= | CA2252140808 | KCNJ18 | c.356G= (p.Gly119=) c.662G= (p.Gly221=) | |
| 17 | g.21703142G>T | CA398488562 | KCNJ18 | c.356G>T (p.Gly119Val) c.662G>T (p.Gly221Val) | gnomAD v4 |
| 17 | g.21703143C>A | CA2636725065 | KCNJ18 | c.357C>A (p.Gly119=) c.663C>A (p.Gly221=) | gnomAD v4 |
| 17 | g.21703144C>A | CA398488563 | KCNJ18 | c.358C>A (p.Arg120Ser) c.664C>A (p.Arg222Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.21703144C= | CA2252140809 | KCNJ18 | c.358C= (p.Arg120=) c.664C= (p.Arg222=) | |
| 17 | g.21703144C>G | CA398488564 | KCNJ18 | c.358C>G (p.Arg120Gly) c.664C>G (p.Arg222Gly) | gnomAD v3 gnomAD v4 |
| 17 | g.21703144C>T | CA398488565 | KCNJ18 | c.358C>T (p.Arg120Cys) c.664C>T (p.Arg222Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.21703145G>A | CA398488566 | KCNJ18 | c.359G>A (p.Arg120His) c.665G>A (p.Arg222His) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.21703145G>C | CA398488567 | KCNJ18 | c.359G>C (p.Arg120Pro) c.665G>C (p.Arg222Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.21703145G= | CA2252140810 | KCNJ18 | c.359G= (p.Arg120=) c.665G= (p.Arg222=) | |
| 17 | g.21703145G>T | CA398488568 | KCNJ18 | c.359G>T (p.Arg120Leu) c.665G>T (p.Arg222Leu) | dbSNP gnomAD v4 |
| 17 | g.21703146C>A | CA2636725066 | KCNJ18 | c.360C>A (p.Arg120=) c.666C>A (p.Arg222=) | gnomAD v4 |
| 17 | g.21703146C= | CA2252140811 | KCNJ18 | c.360C= (p.Arg120=) c.666C= (p.Arg222=) | |
| 17 | g.21703146C>G | CA2252140812 | KCNJ18 | c.360C>G (p.Arg120=) c.666C>G (p.Arg222=) | dbSNP |
| 17 | g.21703146C>T | CA2636725067 | KCNJ18 | c.360C>T (p.Arg120=) c.666C>T (p.Arg222=) | gnomAD v4 |
| 17 | g.21703147A= | CA2252140813 | KCNJ18 | c.361A= (p.Thr121=) c.667A= (p.Thr223=) | |
| 17 | g.21703147A>C | CA398488570 | KCNJ18 | c.361A>C (p.Thr121Pro) c.667A>C (p.Thr223Pro) | dbSNP |
| 17 | g.21703147A>G | CA398488571 | KCNJ18 | c.361A>G (p.Thr121Ala) c.667A>G (p.Thr223Ala) | gnomAD v4 |
| 17 | g.21703147A>T | CA398488569 | KCNJ18 | c.361A>T (p.Thr121Ser) c.667A>T (p.Thr223Ser) | |
| 17 | g.21703148C>A | CA398488572 | KCNJ18 | c.362C>A (p.Thr121Lys) c.668C>A (p.Thr223Lys) | |
| 17 | g.21703148C>G | CA398488573 | KCNJ18 | c.362C>G (p.Thr121Arg) c.668C>G (p.Thr223Arg) | |
| 17 | g.21703148C>T | CA398488574 | KCNJ18 | c.362C>T (p.Thr121Ile) c.668C>T (p.Thr223Ile) | |
| 17 | g.21703149A= | CA2252140814 | KCNJ18 | c.363A= (p.Thr121=) c.669A= (p.Thr223=) | |
| 17 | g.21703149A>T | CA727080497 | KCNJ18 | c.363A>T (p.Thr121=) c.669A>T (p.Thr223=) | dbSNP gnomAD v4 |
| 17 | g.21703150C>A | CA398488575 | KCNJ18 | c.364C>A (p.Pro122Thr) c.670C>A (p.Pro224Thr) | dbSNP |
| 17 | g.21703150C= | CA2252140815 | KCNJ18 | c.364C= (p.Pro122=) c.670C= (p.Pro224=) | |
| 17 | g.21703150C>G | CA398488576 | KCNJ18 | c.364C>G (p.Pro122Ala) c.670C>G (p.Pro224Ala) | |
| 17 | g.21703150C>T | CA398488577 | KCNJ18 | c.364C>T (p.Pro122Ser) c.670C>T (p.Pro224Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.21703151C>A | CA398488578 | KCNJ18 | c.365C>A (p.Pro122His) c.671C>A (p.Pro224His) | |
| 17 | g.21703151C= | CA2252140816 | KCNJ18 | c.365C= (p.Pro122=) c.671C= (p.Pro224=) | |
| 17 | g.21703151C>G | CA398488579 | KCNJ18 | c.365C>G (p.Pro122Arg) c.671C>G (p.Pro224Arg) | |
| 17 | g.21703151C>T | CA398488580 | KCNJ18 | c.365C>T (p.Pro122Leu) c.671C>T (p.Pro224Leu) | dbSNP |
| 17 | g.21703152C>A | CA2636725068 | KCNJ18 | c.366C>A (p.Pro122=) c.672C>A (p.Pro224=) | gnomAD v4 |
| 17 | g.21703152C= | CA2252140817 | KCNJ18 | c.366C= (p.Pro122=) c.672C= (p.Pro224=) | |
| 17 | g.21703152C>G | CA982311981 | KCNJ18 | c.366C>G (p.Pro122=) c.672C>G (p.Pro224=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.21703152C>T | CA982311982 | KCNJ18 | c.366C>T (p.Pro122=) c.672C>T (p.Pro224=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.21703153T>A | CA398488581 | KCNJ18 | c.367T>A (p.Cys123Ser) c.673T>A (p.Cys225Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.21703153T>C | CA398488582 | KCNJ18 | c.367T>C (p.Cys123Arg) c.673T>C (p.Cys225Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.21703153T>G | CA398488583 | KCNJ18 | c.367T>G (p.Cys123Gly) c.673T>G (p.Cys225Gly) | |
| 17 | g.21703153T= | CA2252140818 | KCNJ18 | c.367T= (p.Cys123=) c.673T= (p.Cys225=) | |
| 17 | g.21703154G>A | CA398488585 | KCNJ18 | c.368G>A (p.Cys123Tyr) c.674G>A (p.Cys225Tyr) | |
| 17 | g.21703154G>C | CA398488586 | KCNJ18 | c.368G>C (p.Cys123Ser) c.674G>C (p.Cys225Ser) | |
| 17 | g.21703154G= | CA2252140819 | KCNJ18 | c.368G= (p.Cys123=) c.674G= (p.Cys225=) | |
| 17 | g.21703154G>T | CA398488584 | KCNJ18 | c.368G>T (p.Cys123Phe) c.674G>T (p.Cys225Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.21703155T>A | CA398488587 | KCNJ18 | c.369T>A (p.Cys123Ter) c.675T>A (p.Cys225Ter) | |
| 17 | g.21703155T>C | CA2252140821 | KCNJ18 | c.369T>C (p.Cys123=) c.675T>C (p.Cys225=) | dbSNP gnomAD v4 |
| 17 | g.21703155T>G | CA398488588 | KCNJ18 | c.369T>G (p.Cys123Trp) c.675T>G (p.Cys225Trp) | |
| 17 | g.21703155T= | CA2252140820 | KCNJ18 | c.369T= (p.Cys123=) c.675T= (p.Cys225=) | |
| 17 | g.21703156G>A | CA398488589 | KCNJ18 | c.370G>A (p.Val124Met) c.676G>A (p.Val226Met) | |
| 17 | g.21703156G>C | CA398488590 | KCNJ18 | c.370G>C (p.Val124Leu) c.676G>C (p.Val226Leu) | dbSNP |
| 17 | g.21703156G= | CA2252140822 | KCNJ18 | c.370G= (p.Val124=) c.676G= (p.Val226=) | |
| 17 | g.21703156G>T | CA398488591 | KCNJ18 | c.370G>T (p.Val124Leu) c.676G>T (p.Val226Leu) | gnomAD v4 |
| 17 | g.21703157T>A | CA398488594 | KCNJ18 | c.371T>A (p.Val124Glu) c.677T>A (p.Val226Glu) | |
| 17 | g.21703157T>C | CA398488593 | KCNJ18 | c.371T>C (p.Val124Ala) c.677T>C (p.Val226Ala) | |
| 17 | g.21703157T>G | CA398488592 | KCNJ18 | c.371T>G (p.Val124Gly) c.677T>G (p.Val226Gly) | |
| 17 | g.21703158G>A | CA727080517 | KCNJ18 | c.372G>A (p.Val124=) c.678G>A (p.Val226=) | dbSNP gnomAD v4 |
| 17 | g.21703158G= | CA2252140823 | KCNJ18 | c.372G= (p.Val124=) c.678G= (p.Val226=) | |
| 17 | g.21703158G>T | CA2636725069 | KCNJ18 | c.372G>T (p.Val124=) c.678G>T (p.Val226=) | gnomAD v4 |
| 17 | g.21703159A>C | CA398488595 | KCNJ18 | c.373A>C (p.Met125Leu) c.679A>C (p.Met227Leu) | |
| 17 | g.21703159A>G | CA398488596 | KCNJ18 | c.373A>G (p.Met125Val) c.679A>G (p.Met227Val) | |
| 17 | g.21703159A>T | CA398488597 | KCNJ18 | c.373A>T (p.Met125Leu) c.679A>T (p.Met227Leu) | |
| 17 | g.21703160T>A | CA398488598 | KCNJ18 | c.374T>A (p.Met125Lys) c.680T>A (p.Met227Lys) | |
| 17 | g.21703160T>C | CA398488599 | KCNJ18 | c.374T>C (p.Met125Thr) c.680T>C (p.Met227Thr) | gnomAD v4 |
| 17 | g.21703160T>G | CA398488600 | KCNJ18 | c.374T>G (p.Met125Arg) c.680T>G (p.Met227Arg) | |
| 17 | g.21703161G>A | CA398488603 | KCNJ18 | c.375G>A (p.Met125Ile) c.681G>A (p.Met227Ile) | gnomAD v4 |
| 17 | g.21703161G>C | CA398488602 | KCNJ18 | c.375G>C (p.Met125Ile) c.681G>C (p.Met227Ile) | |
| 17 | g.21703161G>T | CA398488601 | KCNJ18 | c.375G>T (p.Met125Ile) c.681G>T (p.Met227Ile) | gnomAD v4 |
| 17 | g.21703162C>A | CA398488604 | KCNJ18 | c.376C>A (p.Gln126Lys) c.682C>A (p.Gln228Lys) | gnomAD v4 |
| 17 | g.21703162C>G | CA398488606 | KCNJ18 | c.376C>G (p.Gln126Glu) c.682C>G (p.Gln228Glu) | |
| 17 | g.21703162C>T | CA398488605 | KCNJ18 | c.376C>T (p.Gln126Ter) c.682C>T (p.Gln228Ter) | |
| 17 | g.21703163A>C | CA398488607 | KCNJ18 | c.377A>C (p.Gln126Pro) c.683A>C (p.Gln228Pro) | |
| 17 | g.21703163A>G | CA398488608 | KCNJ18 | c.377A>G (p.Gln126Arg) c.683A>G (p.Gln228Arg) | |
| 17 | g.21703163A>T | CA398488609 | KCNJ18 | c.377A>T (p.Gln126Leu) c.683A>T (p.Gln228Leu) | |
| 17 | g.21703164G>A | CA2636725071 | KCNJ18 | c.378G>A (p.Gln126=) c.684G>A (p.Gln228=) | gnomAD v4 |
| 17 | g.21703164G>C | CA398488610 | KCNJ18 | c.378G>C (p.Gln126His) c.684G>C (p.Gln228His) | dbSNP gnomAD v4 |
| 17 | g.21703164G= | CA2252140824 | KCNJ18 | c.378G= (p.Gln126=) c.684G= (p.Gln228=) | |
| 17 | g.21703164G>T | CA398488611 | KCNJ18 | c.378G>T (p.Gln126His) c.684G>T (p.Gln228His) | gnomAD v4 |
| 17 | g.21703165del | CA2636725070 | KCNJ18 | c.379del (p.Val127CysfsTer25) c.685del (p.Val229CysfsTer25) | gnomAD v4 |
| 17 | g.21703165G>A | CA398488614 | KCNJ18 | c.379G>A (p.Val127Met) c.685G>A (p.Val229Met) | |
| 17 | g.21703165G>C | CA398488613 | KCNJ18 | c.379G>C (p.Val127Leu) c.685G>C (p.Val229Leu) | gnomAD v4 |
| 17 | g.21703165G>T | CA398488612 | KCNJ18 | c.379G>T (p.Val127Leu) c.685G>T (p.Val229Leu) | gnomAD v4 |
| 17 | g.21703166T>A | CA398488615 | KCNJ18 | c.380T>A (p.Val127Glu) c.686T>A (p.Val229Glu) | |
| 17 | g.21703166T>C | CA398488616 | KCNJ18 | c.380T>C (p.Val127Ala) c.686T>C (p.Val229Ala) | |
| 17 | g.21703166T>G | CA398488617 | KCNJ18 | c.380T>G (p.Val127Gly) c.686T>G (p.Val229Gly) | |
| 17 | g.21703167G>A | CA2636725072 | KCNJ18 | c.381G>A (p.Val127=) c.687G>A (p.Val229=) | gnomAD v4 |
| 17 | g.21703167G>T | CA2636725073 | KCNJ18 | c.381G>T (p.Val127=) c.687G>T (p.Val229=) | gnomAD v4 |
| 17 | g.21703168C>A | CA398488618 | KCNJ18 | c.382C>A (p.His128Asn) c.688C>A (p.His230Asn) | |
| 17 | g.21703168C>G | CA398488619 | KCNJ18 | c.382C>G (p.His128Asp) c.688C>G (p.His230Asp) | |
| 17 | g.21703168C>T | CA398488620 | KCNJ18 | c.382C>T (p.His128Tyr) c.688C>T (p.His230Tyr) | gnomAD v4 |
| 17 | g.21703169A= | CA2252140825 | KCNJ18 | c.383A= (p.His128=) c.689A= (p.His230=) | |
| 17 | g.21703169A>C | CA398488621 | KCNJ18 | c.383A>C (p.His128Pro) c.689A>C (p.His230Pro) | |
| 17 | g.21703169A>G | CA398488623 | KCNJ18 | c.383A>G (p.His128Arg) c.689A>G (p.His230Arg) | dbSNP |
| 17 | g.21703169A>T | CA398488622 | KCNJ18 | c.383A>T (p.His128Leu) c.689A>T (p.His230Leu) | |
| 17 | g.21703170C>A | CA398488624 | KCNJ18 | c.384C>A (p.His128Gln) c.690C>A (p.His230Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.21703170C= | CA2252140826 | KCNJ18 | c.384C= (p.His128=) c.690C= (p.His230=) | |
| 17 | g.21703170C>G | CA398488625 | KCNJ18 | c.384C>G (p.His128Gln) c.690C>G (p.His230Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.21703170C>T | CA727080537 | KCNJ18 | c.384C>T (p.His128=) c.690C>T (p.His230=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.21703171G>A | CA398488626 | KCNJ18 | c.385G>A (p.Gly129Ser) c.691G>A (p.Gly231Ser) | dbSNP gnomAD v4 |
| 17 | g.21703171G>C | CA398488627 | KCNJ18 | c.385G>C (p.Gly129Arg) c.691G>C (p.Gly231Arg) | |
| 17 | g.21703171G= | CA2252140827 | KCNJ18 | c.385G= (p.Gly129=) c.691G= (p.Gly231=) | |
| 17 | g.21703171G>T | CA398488628 | KCNJ18 | c.385G>T (p.Gly129Cys) c.691G>T (p.Gly231Cys) | gnomAD v4 |
| 17 | g.21703172G>A | CA398488629 | KCNJ18 | c.386G>A (p.Gly129Asp) c.692G>A (p.Gly231Asp) | dbSNP gnomAD v4 |
| 17 | g.21703172G>C | CA398488630 | KCNJ18 | c.386G>C (p.Gly129Ala) c.692G>C (p.Gly231Ala) | gnomAD v4 |
| 17 | g.21703172G= | CA2252140828 | KCNJ18 | c.386G= (p.Gly129=) c.692G= (p.Gly231=) | |
| 17 | g.21703172G>T | CA398488631 | KCNJ18 | c.386G>T (p.Gly129Val) c.692G>T (p.Gly231Val) | gnomAD v4 |
| 17 | g.21703173C>T | CA2808770734 | KCNJ18 | c.387C>T (p.Gly129=) c.693C>T (p.Gly231=) | |
| 17 | g.21703174T>A | CA398488632 | KCNJ18 | c.388T>A (p.Phe130Ile) c.694T>A (p.Phe232Ile) | |
| 17 | g.21703174T>C | CA398488633 | KCNJ18 | c.388T>C (p.Phe130Leu) c.694T>C (p.Phe232Leu) | |
| 17 | g.21703174T>G | CA398488634 | KCNJ18 | c.388T>G (p.Phe130Val) c.694T>G (p.Phe232Val) | gnomAD v4 |
| 17 | g.21703175T>A | CA398488635 | KCNJ18 | c.389T>A (p.Phe130Tyr) c.695T>A (p.Phe232Tyr) | |
| 17 | g.21703175T>C | CA398488637 | KCNJ18 | c.389T>C (p.Phe130Ser) c.695T>C (p.Phe232Ser) | |
| 17 | g.21703175T>G | CA398488636 | KCNJ18 | c.389T>G (p.Phe130Cys) c.695T>G (p.Phe232Cys) | |
| 17 | g.21703176C>A | CA398488638 | KCNJ18 | c.390C>A (p.Phe130Leu) c.696C>A (p.Phe232Leu) | |
| 17 | g.21703176C>G | CA398488639 | KCNJ18 | c.390C>G (p.Phe130Leu) c.696C>G (p.Phe232Leu) | |
| 17 | g.21703177A= | CA2252140829 | KCNJ18 | c.391A= (p.Met131=) c.697A= (p.Met233=) | |
| 17 | g.21703177A>C | CA398488640 | KCNJ18 | c.391A>C (p.Met131Leu) c.697A>C (p.Met233Leu) | |
| 17 | g.21703177A>G | CA398488641 | KCNJ18 | c.391A>G (p.Met131Val) c.697A>G (p.Met233Val) | dbSNP |
| 17 | g.21703177A>T | CA398488642 | KCNJ18 | c.391A>T (p.Met131Leu) c.697A>T (p.Met233Leu) | |
| 17 | g.21703178T>A | CA398488643 | KCNJ18 | c.392T>A (p.Met131Lys) c.698T>A (p.Met233Lys) | |
| 17 | g.21703178T>C | CA398488644 | KCNJ18 | c.392T>C (p.Met131Thr) c.698T>C (p.Met233Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.21703178T>G | CA398488645 | KCNJ18 | c.392T>G (p.Met131Arg) c.698T>G (p.Met233Arg) | |
| 17 | g.21703178T= | CA2252140830 | KCNJ18 | c.392T= (p.Met131=) c.698T= (p.Met233=) | |
| 17 | g.21703179G>A | CA398488646 | KCNJ18 | c.393G>A (p.Met131Ile) c.699G>A (p.Met233Ile) | |
| 17 | g.21703179G>C | CA398488647 | KCNJ18 | c.393G>C (p.Met131Ile) c.699G>C (p.Met233Ile) | |
| 17 | g.21703179G>T | CA398488648 | KCNJ18 | c.393G>T (p.Met131Ile) c.699G>T (p.Met233Ile) | |
| 17 | g.21703180G>A | CA398488651 | KCNJ18 | c.394G>A (p.Ala132Thr) c.700G>A (p.Ala234Thr) | |
| 17 | g.21703180G>C | CA398488650 | KCNJ18 | c.394G>C (p.Ala132Pro) c.700G>C (p.Ala234Pro) | |
| 17 | g.21703180G>T | CA398488649 | KCNJ18 | c.394G>T (p.Ala132Ser) c.700G>T (p.Ala234Ser) | gnomAD v4 |
| 17 | g.21703181C>A | CA398488652 | KCNJ18 | c.395C>A (p.Ala132Glu) c.701C>A (p.Ala234Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.21703181C= | CA2252140831 | KCNJ18 | c.395C= (p.Ala132=) c.701C= (p.Ala234=) | |
| 17 | g.21703181C>G | CA398488653 | KCNJ18 | c.395C>G (p.Ala132Gly) c.701C>G (p.Ala234Gly) | |
| 17 | g.21703181C>T | CA398488654 | KCNJ18 | c.395C>T (p.Ala132Val) c.701C>T (p.Ala234Val) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.21703182G>A | CA982311983 | KCNJ18 | c.396G>A (p.Ala132=) c.702G>A (p.Ala234=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.21703182G= | CA2252140832 | KCNJ18 | c.396G= (p.Ala132=) c.702G= (p.Ala234=) | |
| 17 | g.21703183G>A | CA398488655 | KCNJ18 | c.397G>A (p.Ala133Thr) c.703G>A (p.Ala235Thr) | |
| 17 | g.21703183G>C | CA398488656 | KCNJ18 | c.397G>C (p.Ala133Pro) c.703G>C (p.Ala235Pro) | dbSNP gnomAD v4 |
| 17 | g.21703183G= | CA2252140833 | KCNJ18 | c.397G= (p.Ala133=) c.703G= (p.Ala235=) | |
| 17 | g.21703183G>T | CA398488657 | KCNJ18 | c.397G>T (p.Ala133Ser) c.703G>T (p.Ala235Ser) | gnomAD v4 |
| 17 | g.21703184C>A | CA398488658 | KCNJ18 | c.398C>A (p.Ala133Asp) c.704C>A (p.Ala235Asp) | dbSNP gnomAD v4 |
| 17 | g.21703184C= | CA2252140834 | KCNJ18 | c.398C= (p.Ala133=) c.704C= (p.Ala235=) | |
| 17 | g.21703184C>G | CA398488659 | KCNJ18 | c.398C>G (p.Ala133Gly) c.704C>G (p.Ala235Gly) | dbSNP |
| 17 | g.21703184C>T | CA398488660 | KCNJ18 | c.398C>T (p.Ala133Val) c.704C>T (p.Ala235Val) | |
| 17 | g.21703185C= | CA2252140835 | KCNJ18 | c.399C= (p.Ala133=) c.705C= (p.Ala235=) | |
| 17 | g.21703185C>T | CA727080560 | KCNJ18 | c.399C>T (p.Ala133=) c.705C>T (p.Ala235=) | dbSNP gnomAD v4 |
| 17 | g.21703186T>A | CA398488661 | KCNJ18 | c.400T>A (p.Phe134Ile) c.706T>A (p.Phe236Ile) | |
| 17 | g.21703186T>C | CA398488662 | KCNJ18 | c.400T>C (p.Phe134Leu) c.706T>C (p.Phe236Leu) | dbSNP |
| 17 | g.21703186T>G | CA398488663 | KCNJ18 | c.400T>G (p.Phe134Val) c.706T>G (p.Phe236Val) | |
| 17 | g.21703186T= | CA2252140836 | KCNJ18 | c.400T= (p.Phe134=) c.706T= (p.Phe236=) | |
| 17 | g.21703187T>A | CA398488665 | KCNJ18 | c.401T>A (p.Phe134Tyr) c.707T>A (p.Phe236Tyr) | |
| 17 | g.21703187T>C | CA398488666 | KCNJ18 | c.401T>C (p.Phe134Ser) c.707T>C (p.Phe236Ser) | |
| 17 | g.21703187T>G | CA398488664 | KCNJ18 | c.401T>G (p.Phe134Cys) c.707T>G (p.Phe236Cys) | |
| 17 | g.21703188C>A | CA398488668 | KCNJ18 | c.402C>A (p.Phe134Leu) c.708C>A (p.Phe236Leu) | |
| 17 | g.21703188C>G | CA398488667 | KCNJ18 | c.402C>G (p.Phe134Leu) c.708C>G (p.Phe236Leu) | |
| 17 | g.21703189C>A | CA398488669 | KCNJ18 | c.403C>A (p.Leu135Ile) c.709C>A (p.Leu237Ile) | |
| 17 | g.21703189C>G | CA398488670 | KCNJ18 | c.403C>G (p.Leu135Val) c.709C>G (p.Leu237Val) | |
| 17 | g.21703189C>T | CA398488671 | KCNJ18 | c.403C>T (p.Leu135Phe) c.709C>T (p.Leu237Phe) | gnomAD v4 |
| 17 | g.21703190T>A | CA398488672 | KCNJ18 | c.404T>A (p.Leu135His) c.710T>A (p.Leu237His) | |
| 17 | g.21703190T>C | CA398488673 | KCNJ18 | c.404T>C (p.Leu135Pro) c.710T>C (p.Leu237Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.21703190T>G | CA398488674 | KCNJ18 | c.404T>G (p.Leu135Arg) c.710T>G (p.Leu237Arg) | |
| 17 | g.21703190T= | CA2252140837 | KCNJ18 | c.404T= (p.Leu135=) c.710T= (p.Leu237=) | |
| 17 | g.21703191del | CA2636725074 | KCNJ18 | c.405del (p.Phe136SerfsTer16) c.711del (p.Phe238SerfsTer16) | gnomAD v4 |
| 17 | g.21703191C>A | CA2636725075 | KCNJ18 | c.405C>A (p.Leu135=) c.711C>A (p.Leu237=) | gnomAD v4 |
| 17 | g.21703191C>T | CA2636725076 | KCNJ18 | c.405C>T (p.Leu135=) c.711C>T (p.Leu237=) | gnomAD v4 |
| 17 | g.21703192T>A | CA398488675 | KCNJ18 | c.406T>A (p.Phe136Ile) c.712T>A (p.Phe238Ile) | |
| 17 | g.21703192T>C | CA398488676 | KCNJ18 | c.406T>C (p.Phe136Leu) c.712T>C (p.Phe238Leu) | |
| 17 | g.21703192T>G | CA398488677 | KCNJ18 | c.406T>G (p.Phe136Val) c.712T>G (p.Phe238Val) | |
| 17 | g.21703193T>A | CA398488678 | KCNJ18 | c.407T>A (p.Phe136Tyr) c.713T>A (p.Phe238Tyr) | |
| 17 | g.21703193T>C | CA398488679 | KCNJ18 | c.407T>C (p.Phe136Ser) c.713T>C (p.Phe238Ser) | |
| 17 | g.21703193T>G | CA398488680 | KCNJ18 | c.407T>G (p.Phe136Cys) c.713T>G (p.Phe238Cys) | |
| 17 | g.21703194C>A | CA398488682 | KCNJ18 | c.408C>A (p.Phe136Leu) c.714C>A (p.Phe238Leu) | |
| 17 | g.21703194C>G | CA398488681 | KCNJ18 | c.408C>G (p.Phe136Leu) c.714C>G (p.Phe238Leu) | gnomAD v3 gnomAD v4 |
| 17 | g.21703195_21703197del | CA2636725077 | KCNJ18 | c.409_411del (p.Ser137del) c.715_717del (p.Ser239del) | gnomAD v4 |
| 17 | g.21703195T>A | CA398488683 | KCNJ18 | c.409T>A (p.Ser137Thr) c.715T>A (p.Ser239Thr) | |
| 17 | g.21703195T>C | CA398488684 | KCNJ18 | c.409T>C (p.Ser137Pro) c.715T>C (p.Ser239Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.21703195T>G | CA398488685 | KCNJ18 | c.409T>G (p.Ser137Ala) c.715T>G (p.Ser239Ala) | |
| 17 | g.21703195T= | CA2252140838 | KCNJ18 | c.409T= (p.Ser137=) c.715T= (p.Ser239=) | |
| 17 | g.21703196C>A | CA398488686 | KCNJ18 | c.410C>A (p.Ser137Tyr) c.716C>A (p.Ser239Tyr) | gnomAD v4 |
| 17 | g.21703196C>G | CA398488687 | KCNJ18 | c.410C>G (p.Ser137Cys) c.716C>G (p.Ser239Cys) | |
| 17 | g.21703196C>T | CA398488688 | KCNJ18 | c.410C>T (p.Ser137Phe) c.716C>T (p.Ser239Phe) | |
| 17 | g.21703197C>A | CA2636725079 | KCNJ18 | c.411C>A (p.Ser137=) c.717C>A (p.Ser239=) | gnomAD v4 |
| 17 | g.21703197C>T | CA2636725078 | KCNJ18 | c.411C>T (p.Ser137=) c.717C>T (p.Ser239=) | gnomAD v4 |
| 17 | g.21703198A= | CA2252140839 | KCNJ18 | c.412A= (p.Ile138=) c.718A= (p.Ile240=) | |
| 17 | g.21703198A>C | CA398488689 | KCNJ18 | c.412A>C (p.Ile138Leu) c.718A>C (p.Ile240Leu) | |
| 17 | g.21703198A>G | CA398488690 | KCNJ18 | c.412A>G (p.Ile138Val) c.718A>G (p.Ile240Val) | gnomAD v3 gnomAD v4 |
| 17 | g.21703198A>T | CA398488691 | KCNJ18 | c.412A>T (p.Ile138Phe) c.718A>T (p.Ile240Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.21703199T>A | CA398488692 | KCNJ18 | c.413T>A (p.Ile138Asn) c.719T>A (p.Ile240Asn) | gnomAD v4 |
| 17 | g.21703199T>C | CA398488693 | KCNJ18 | c.413T>C (p.Ile138Thr) c.719T>C (p.Ile240Thr) | |
| 17 | g.21703199T>G | CA398488694 | KCNJ18 | c.413T>G (p.Ile138Ser) c.719T>G (p.Ile240Ser) | |
| 17 | g.21703200C= | CA2252140840 | KCNJ18 | c.414C= (p.Ile138=) c.720C= (p.Ile240=) | |
| 17 | g.21703200C>G | CA398488695 | KCNJ18 | c.414C>G (p.Ile138Met) c.720C>G (p.Ile240Met) | |
| 17 | g.21703200C>T | CA727080581 | KCNJ18 | c.414C>T (p.Ile138=) c.720C>T (p.Ile240=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.21703201G>A | CA398488698 | KCNJ18 | c.415G>A (p.Glu139Lys) c.721G>A (p.Glu241Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.21703201G>C | CA398488697 | KCNJ18 | c.415G>C (p.Glu139Gln) c.721G>C (p.Glu241Gln) | dbSNP gnomAD v4 |
| 17 | g.21703201G= | CA2252140841 | KCNJ18 | c.415G= (p.Glu139=) c.721G= (p.Glu241=) | |
| 17 | g.21703201G>T | CA398488696 | KCNJ18 | c.415G>T (p.Glu139Ter) c.721G>T (p.Glu241Ter) | gnomAD v4 |
| 17 | g.21703202A>C | CA398488699 | KCNJ18 | c.416A>C (p.Glu139Ala) c.722A>C (p.Glu241Ala) | |
| 17 | g.21703202A>G | CA398488700 | KCNJ18 | c.416A>G (p.Glu139Gly) c.722A>G (p.Glu241Gly) | |
| 17 | g.21703202A>T | CA398488701 | KCNJ18 | c.416A>T (p.Glu139Val) c.722A>T (p.Glu241Val) | |
| 17 | g.21703203G>C | CA398488702 | KCNJ18 | c.417G>C (p.Glu139Asp) c.723G>C (p.Glu241Asp) | |
| 17 | g.21703203G>T | CA398488703 | KCNJ18 | c.417G>T (p.Glu139Asp) c.723G>T (p.Glu241Asp) | |
| 17 | g.21703204A= | CA2252140842 | KCNJ18 | c.418A= (p.Thr140=) c.724A= (p.Thr242=) | |
| 17 | g.21703204A>C | CA398488706 | KCNJ18 | c.418A>C (p.Thr140Pro) c.724A>C (p.Thr242Pro) | |
| 17 | g.21703204A>G | CA398488705 | KCNJ18 | c.418A>G (p.Thr140Ala) c.724A>G (p.Thr242Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.21703204A>T | CA398488704 | KCNJ18 | c.418A>T (p.Thr140Ser) c.724A>T (p.Thr242Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.21703205C>A | CA398488707 | KCNJ18 | c.419C>A (p.Thr140Lys) c.725C>A (p.Thr242Lys) | dbSNP |
| 17 | g.21703205C= | CA2252140843 | KCNJ18 | c.419C= (p.Thr140=) c.725C= (p.Thr242=) | |
| 17 | g.21703205C>G | CA398488708 | KCNJ18 | c.419C>G (p.Thr140Arg) c.725C>G (p.Thr242Arg) | |
| 17 | g.21703205C>T | CA345723 | KCNJ18 | c.419C>T (p.Thr140Met) c.725C>T (p.Thr242Met) | dbSNP gnomAD v3 gnomAD v4 |