| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.70175496del | CA2695226995 | KCNJ2 | c.457del (p.Glu153AsnfsTer?) | |
| 17 | g.70175496G>A | CA400860639 | KCNJ2 | c.457G>A (p.Glu153Lys) | |
| 17 | g.70175496G>C | CA400860637 | KCNJ2 | c.457G>C (p.Glu153Gln) | |
| 17 | g.70175496G>T | CA400860638 | KCNJ2 | c.457G>T (p.Glu153Ter) | |
| 17 | g.70175497A>C | CA400860640 | KCNJ2 | c.458A>C (p.Glu153Ala) | |
| 17 | g.70175497A>G | CA400860641 | KCNJ2 | c.458A>G (p.Glu153Gly) | |
| 17 | g.70175497A>T | CA400860642 | KCNJ2 | c.458A>T (p.Glu153Val) | |
| 17 | g.70175498A= | CA2272996583 | KCNJ2 | c.459A= (p.Glu153=) | |
| 17 | g.70175498A>C | CA400860643 | KCNJ2 | c.459A>C (p.Glu153Asp) | ClinVar gnomAD v4 |
| 17 | g.70175498A>G | CA501700692 | KCNJ2 | c.459A>G (p.Glu153=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.70175498A>T | CA400860644 | KCNJ2 | c.459A>T (p.Glu153Asp) | |
| 17 | g.70175499T>A | CA400860645 | KCNJ2 | c.460T>A (p.Cys154Ser) | |
| 17 | g.70175499T>C | CA400860647 | KCNJ2 | c.460T>C (p.Cys154Arg) | |
| 17 | g.70175499T>G | CA400860646 | KCNJ2 | c.460T>G (p.Cys154Gly) | ClinVar dbSNP |
| 17 | g.70175500G>A | CA400860648 | KCNJ2 | c.461G>A (p.Cys154Tyr) | ClinVar dbSNP |
| 17 | g.70175500G>C | CA400860649 | KCNJ2 | c.461G>C (p.Cys154Ser) | |
| 17 | g.70175500G= | CA2272996584 | KCNJ2 | c.461G= (p.Cys154=) | |
| 17 | g.70175500G>T | CA329684 | KCNJ2 | c.461G>T (p.Cys154Phe) | ClinVar dbSNP |
| 17 | g.70175501C>A | CA400860650 | KCNJ2 | c.462C>A (p.Cys154Ter) | |
| 17 | g.70175501C= | CA2272996585 | KCNJ2 | c.462C= (p.Cys154=) | |
| 17 | g.70175501C>G | CA400860651 | KCNJ2 | c.462C>G (p.Cys154Trp) | |
| 17 | g.70175501C>T | CA501700694 | KCNJ2 | c.462C>T (p.Cys154=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.70175502C>A | CA400860652 | KCNJ2 | c.463C>A (p.Pro155Thr) | |
| 17 | g.70175502C= | CA2272996586 | KCNJ2 | c.463C= (p.Pro155=) | |
| 17 | g.70175502C>G | CA400860653 | KCNJ2 | c.463C>G (p.Pro155Ala) | |
| 17 | g.70175502C>T | CA400860654 | KCNJ2 | c.463C>T (p.Pro155Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.70175503C>A | CA400860655 | KCNJ2 | c.464C>A (p.Pro155Gln) | |
| 17 | g.70175503C>G | CA400860656 | KCNJ2 | c.464C>G (p.Pro155Arg) | |
| 17 | g.70175503C>T | CA400860657 | KCNJ2 | c.464C>T (p.Pro155Leu) | |
| 17 | g.70175504A= | CA2272996587 | KCNJ2 | c.465A= (p.Pro155=) | |
| 17 | g.70175504A>C | CA501700699 | KCNJ2 | c.465A>C (p.Pro155=) | dbSNP |
| 17 | g.70175504A>G | CA8738732 | KCNJ2 | c.465A>G (p.Pro155=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.70175504A>T | CA501700701 | KCNJ2 | c.465A>T (p.Pro155=) | |
| 17 | g.70175505A= | CA2272996588 | KCNJ2 | c.466A= (p.Ile156=) | |
| 17 | g.70175505A>C | CA400860658 | KCNJ2 | c.466A>C (p.Ile156Leu) | |
| 17 | g.70175505A>G | CA8738733 | KCNJ2 | c.466A>G (p.Ile156Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.70175505A>T | CA400860659 | KCNJ2 | c.466A>T (p.Ile156Phe) | |
| 17 | g.70175506T>A | CA400860660 | KCNJ2 | c.467T>A (p.Ile156Asn) | |
| 17 | g.70175506T>C | CA293702915 | KCNJ2 | c.467T>C (p.Ile156Thr) | dbSNP |
| 17 | g.70175506T>G | CA400860661 | KCNJ2 | c.467T>G (p.Ile156Ser) | |
| 17 | g.70175506T= | CA2272996589 | KCNJ2 | c.467T= (p.Ile156=) | |
| 17 | g.70175507T>A | CA501700708 | KCNJ2 | c.468T>A (p.Ile156=) | |
| 17 | g.70175507T>C | CA501700707 | KCNJ2 | c.468T>C (p.Ile156=) | |
| 17 | g.70175507T>G | CA400860662 | KCNJ2 | c.468T>G (p.Ile156Met) | |
| 17 | g.70175508G>A | CA400860663 | KCNJ2 | c.469G>A (p.Ala157Thr) | |
| 17 | g.70175508G>C | CA400860664 | KCNJ2 | c.469G>C (p.Ala157Pro) | |
| 17 | g.70175508G>T | CA400860665 | KCNJ2 | c.469G>T (p.Ala157Ser) | |
| 17 | g.70175509C>A | CA400860666 | KCNJ2 | c.470C>A (p.Ala157Asp) | |
| 17 | g.70175509C>G | CA400860667 | KCNJ2 | c.470C>G (p.Ala157Gly) | |
| 17 | g.70175509C>T | CA400860668 | KCNJ2 | c.470C>T (p.Ala157Val) |