| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.128839644G>A | CA477703258 | KCNJ1 | c.600C>T (p.Ser200=) c.657C>T (p.Ser219=) c.651C>T (p.Ser217=) | |
| 11 | g.128839644G>C | CA120152 | KCNJ1 | c.600C>G (p.Ser200Arg) c.657C>G (p.Ser219Arg) c.651C>G (p.Ser217Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.128839644G= | CA2008250694 | KCNJ1 | c.600C= (p.Ser200=) c.657C= (p.Ser219=) c.651C= (p.Ser217=) | |
| 11 | g.128839644G>T | CA383244677 | KCNJ1 | c.600C>A (p.Ser200Arg) c.657C>A (p.Ser219Arg) c.651C>A (p.Ser217Arg) | ClinVar gnomAD v4 |
| 11 | g.128839645C>A | CA383244678 | KCNJ1 | c.599G>T (p.Ser200Ile) c.656G>T (p.Ser219Ile) c.650G>T (p.Ser217Ile) | |
| 11 | g.128839645C>G | CA383244679 | KCNJ1 | c.599G>C (p.Ser200Thr) c.656G>C (p.Ser219Thr) c.650G>C (p.Ser217Thr) | |
| 11 | g.128839645C>T | CA383244680 | KCNJ1 | c.599G>A (p.Ser200Asn) c.656G>A (p.Ser219Asn) c.650G>A (p.Ser217Asn) | |
| 11 | g.128839646T>A | CA383244681 | KCNJ1 | c.598A>T (p.Ser200Cys) c.655A>T (p.Ser219Cys) c.649A>T (p.Ser217Cys) | |
| 11 | g.128839646T>C | CA383244682 | KCNJ1 | c.598A>G (p.Ser200Gly) c.655A>G (p.Ser219Gly) c.649A>G (p.Ser217Gly) | |
| 11 | g.128839646T>G | CA383244683 | KCNJ1 | c.598A>C (p.Ser200Arg) c.655A>C (p.Ser219Arg) c.649A>C (p.Ser217Arg) | |
| 11 | g.128839647C>A | CA383244684 | KCNJ1 | c.597G>T (p.Lys199Asn) c.654G>T (p.Lys218Asn) c.648G>T (p.Lys216Asn) | |
| 11 | g.128839647C= | CA2008250698 | KCNJ1 | c.597G= (p.Lys199=) c.654G= (p.Lys218=) c.648G= (p.Lys216=) | |
| 11 | g.128839647C>G | CA383244685 | KCNJ1 | c.597G>C (p.Lys199Asn) c.654G>C (p.Lys218Asn) c.648G>C (p.Lys216Asn) | dbSNP |
| 11 | g.128839647C>T | CA477703259 | KCNJ1 | c.597G>A (p.Lys199=) c.654G>A (p.Lys218=) c.648G>A (p.Lys216=) | |
| 11 | g.128839648T>A | CA383244686 | KCNJ1 | c.596A>T (p.Lys199Met) c.653A>T (p.Lys218Met) c.647A>T (p.Lys216Met) | dbSNP gnomAD v4 |
| 11 | g.128839648T>C | CA383244687 | KCNJ1 | c.596A>G (p.Lys199Arg) c.653A>G (p.Lys218Arg) c.647A>G (p.Lys216Arg) | |
| 11 | g.128839648T>G | CA383244688 | KCNJ1 | c.596A>C (p.Lys199Thr) c.653A>C (p.Lys218Thr) c.647A>C (p.Lys216Thr) | |
| 11 | g.128839648T= | CA2008250706 | KCNJ1 | c.596A= (p.Lys199=) c.653A= (p.Lys218=) c.647A= (p.Lys216=) | |
| 11 | g.128839649T>A | CA383244689 | KCNJ1 | c.595A>T (p.Lys199Ter) c.652A>T (p.Lys218Ter) c.646A>T (p.Lys216Ter) | dbSNP gnomAD v4 |
| 11 | g.128839649T>C | CA383244690 | KCNJ1 | c.595A>G (p.Lys199Glu) c.652A>G (p.Lys218Glu) c.646A>G (p.Lys216Glu) | |
| 11 | g.128839649T>G | CA383244691 | KCNJ1 | c.595A>C (p.Lys199Gln) c.652A>C (p.Lys218Gln) c.646A>C (p.Lys216Gln) | |
| 11 | g.128839649T= | CA2008250715 | KCNJ1 | c.595A= (p.Lys199=) c.652A= (p.Lys218=) c.646A= (p.Lys216=) | |
| 11 | g.128839650C>A | CA383244692 | KCNJ1 | c.594G>T (p.Arg198Ser) c.651G>T (p.Arg217Ser) c.645G>T (p.Arg215Ser) | |
| 11 | g.128839650C= | CA2008250720 | KCNJ1 | c.594G= (p.Arg198=) c.651G= (p.Arg217=) c.645G= (p.Arg215=) | |
| 11 | g.128839650C>G | CA383244693 | KCNJ1 | c.594G>C (p.Arg198Ser) c.651G>C (p.Arg217Ser) c.645G>C (p.Arg215Ser) | |
| 11 | g.128839650C>T | CA477703260 | KCNJ1 | c.594G>A (p.Arg198=) c.651G>A (p.Arg217=) c.645G>A (p.Arg215=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.128839651C>A | CA383244694 | KCNJ1 | c.593G>T (p.Arg198Met) c.650G>T (p.Arg217Met) c.644G>T (p.Arg215Met) | |
| 11 | g.128839651C= | CA2008250726 | KCNJ1 | c.593G= (p.Arg198=) c.650G= (p.Arg217=) c.644G= (p.Arg215=) | |
| 11 | g.128839651C>G | CA383244695 | KCNJ1 | c.593G>C (p.Arg198Thr) c.650G>C (p.Arg217Thr) c.644G>C (p.Arg215Thr) | |
| 11 | g.128839651C>T | CA383244696 | KCNJ1 | c.593G>A (p.Arg198Lys) c.650G>A (p.Arg217Lys) c.644G>A (p.Arg215Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.128839652T>A | CA383244697 | KCNJ1 | c.592A>T (p.Arg198Trp) c.649A>T (p.Arg217Trp) c.643A>T (p.Arg215Trp) | |
| 11 | g.128839652T>C | CA383244698 | KCNJ1 | c.592A>G (p.Arg198Gly) c.649A>G (p.Arg217Gly) c.643A>G (p.Arg215Gly) | |
| 11 | g.128839652T>G | CA477703261 | KCNJ1 | c.592A>C (p.Arg198=) c.649A>C (p.Arg217=) c.643A>C (p.Arg215=) | |
| 11 | g.128839653G>A | CA477703262 | KCNJ1 | c.591C>T (p.Leu197=) c.648C>T (p.Leu216=) c.642C>T (p.Leu214=) | dbSNP gnomAD v2 |
| 11 | g.128839653G>C | CA477703263 | KCNJ1 | c.591C>G (p.Leu197=) c.648C>G (p.Leu216=) c.642C>G (p.Leu214=) | dbSNP COSMIC |
| 11 | g.128839653G= | CA2008250734 | KCNJ1 | c.591C= (p.Leu197=) c.648C= (p.Leu216=) c.642C= (p.Leu214=) | |
| 11 | g.128839653G>T | CA477703264 | KCNJ1 | c.591C>A (p.Leu197=) c.648C>A (p.Leu216=) c.642C>A (p.Leu214=) | |
| 11 | g.128839654A>C | CA383244699 | KCNJ1 | c.590T>G (p.Leu197Arg) c.647T>G (p.Leu216Arg) c.641T>G (p.Leu214Arg) | |
| 11 | g.128839654A>G | CA383244700 | KCNJ1 | c.590T>C (p.Leu197Pro) c.647T>C (p.Leu216Pro) c.641T>C (p.Leu214Pro) | |
| 11 | g.128839654A>T | CA383244701 | KCNJ1 | c.590T>A (p.Leu197His) c.647T>A (p.Leu216His) c.641T>A (p.Leu214His) | |
| 11 | g.128839655G>A | CA383244702 | KCNJ1 | c.589C>T (p.Leu197Phe) c.646C>T (p.Leu216Phe) c.640C>T (p.Leu214Phe) | |
| 11 | g.128839655G>C | CA383244704 | KCNJ1 | c.589C>G (p.Leu197Val) c.646C>G (p.Leu216Val) c.640C>G (p.Leu214Val) | |
| 11 | g.128839655G>T | CA383244703 | KCNJ1 | c.589C>A (p.Leu197Ile) c.646C>A (p.Leu216Ile) c.640C>A (p.Leu214Ile) | |
| 11 | g.128839656A>C | CA383244705 | KCNJ1 | c.588T>G (p.Asn196Lys) c.645T>G (p.Asn215Lys) c.639T>G (p.Asn213Lys) | |
| 11 | g.128839656A>G | CA477703265 | KCNJ1 | c.588T>C (p.Asn196=) c.645T>C (p.Asn215=) c.639T>C (p.Asn213=) | |
| 11 | g.128839656A>T | CA383244706 | KCNJ1 | c.588T>A (p.Asn196Lys) c.645T>A (p.Asn215Lys) c.639T>A (p.Asn213Lys) | |
| 11 | g.128839657T>A | CA383244707 | KCNJ1 | c.587A>T (p.Asn196Ile) c.644A>T (p.Asn215Ile) c.638A>T (p.Asn213Ile) | |
| 11 | g.128839657T>C | CA383244708 | KCNJ1 | c.587A>G (p.Asn196Ser) c.644A>G (p.Asn215Ser) c.638A>G (p.Asn213Ser) | gnomAD v4 |
| 11 | g.128839657T>G | CA383244709 | KCNJ1 | c.587A>C (p.Asn196Thr) c.644A>C (p.Asn215Thr) c.638A>C (p.Asn213Thr) | |
| 11 | g.128839658T>A | CA383244710 | KCNJ1 | c.586A>T (p.Asn196Tyr) c.643A>T (p.Asn215Tyr) c.637A>T (p.Asn213Tyr) |