| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.70170730_70175461del | CA1139665860 | KCNJ2 | c.-217+1029_422del c.-217+1873_422del | ClinVar |
| 17 | g.70175453G>A | CA501700597 | KCNJ2 | c.414G>A (p.Glu138=) | |
| 17 | g.70175453G>C | CA400860548 | KCNJ2 | c.414G>C (p.Glu138Asp) | |
| 17 | g.70175453G>T | CA400860547 | KCNJ2 | c.414G>T (p.Glu138Asp) | |
| 17 | g.70175454A>C | CA400860549 | KCNJ2 | c.415A>C (p.Thr139Pro) | |
| 17 | g.70175454A>G | CA400860550 | KCNJ2 | c.415A>G (p.Thr139Ala) | |
| 17 | g.70175454A>T | CA400860551 | KCNJ2 | c.415A>T (p.Thr139Ser) | |
| 17 | g.70175455C>A | CA400860552 | KCNJ2 | c.416C>A (p.Thr139Asn) | |
| 17 | g.70175455C= | CA2272996569 | KCNJ2 | c.416C= (p.Thr139=) | |
| 17 | g.70175455C>G | CA400860553 | KCNJ2 | c.416C>G (p.Thr139Ser) | |
| 17 | g.70175455C>T | CA16615918 | KCNJ2 | c.416C>T (p.Thr139Ile) | ClinVar dbSNP |
| 17 | g.70175456C>A | CA8738726 | KCNJ2 | c.417C>A (p.Thr139=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.70175456C= | CA2272996570 | KCNJ2 | c.417C= (p.Thr139=) | |
| 17 | g.70175456C>G | CA501700602 | KCNJ2 | c.417C>G (p.Thr139=) | |
| 17 | g.70175456C>T | CA8738727 | KCNJ2 | c.417C>T (p.Thr139=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.70175457C>A | CA400860554 | KCNJ2 | c.418C>A (p.Gln140Lys) | |
| 17 | g.70175457C>G | CA400860555 | KCNJ2 | c.418C>G (p.Gln140Glu) | |
| 17 | g.70175457C>T | CA400860556 | KCNJ2 | c.418C>T (p.Gln140Ter) | |
| 17 | g.70175458A>C | CA400860557 | KCNJ2 | c.419A>C (p.Gln140Pro) | |
| 17 | g.70175458A>G | CA400860558 | KCNJ2 | c.419A>G (p.Gln140Arg) | |
| 17 | g.70175458A>T | CA400860559 | KCNJ2 | c.419A>T (p.Gln140Leu) | |
| 17 | g.70175459G>A | CA501700605 | KCNJ2 | c.420G>A (p.Gln140=) | |
| 17 | g.70175459G>C | CA400860560 | KCNJ2 | c.420G>C (p.Gln140His) | |
| 17 | g.70175459G>T | CA400860561 | KCNJ2 | c.420G>T (p.Gln140His) | |
| 17 | g.70175460A>C | CA400860562 | KCNJ2 | c.421A>C (p.Thr141Pro) | |
| 17 | g.70175460A>G | CA400860563 | KCNJ2 | c.421A>G (p.Thr141Ala) | |
| 17 | g.70175460A>T | CA400860564 | KCNJ2 | c.421A>T (p.Thr141Ser) | |
| 17 | g.70175461C>A | CA400860565 | KCNJ2 | c.422C>A (p.Thr141Lys) | |
| 17 | g.70175461C>G | CA400860566 | KCNJ2 | c.422C>G (p.Thr141Arg) | |
| 17 | g.70175461C>T | CA400860567 | KCNJ2 | c.422C>T (p.Thr141Ile) | |
| 17 | g.70175462A>C | CA501700612 | KCNJ2 | c.423A>C (p.Thr141=) | |
| 17 | g.70175462A>G | CA501700613 | KCNJ2 | c.423A>G (p.Thr141=) | |
| 17 | g.70175462A>T | CA501700615 | KCNJ2 | c.423A>T (p.Thr141=) | gnomAD v4 |
| 17 | g.70175463A>C | CA400860568 | KCNJ2 | c.424A>C (p.Thr142Pro) | |
| 17 | g.70175463A>G | CA400860569 | KCNJ2 | c.424A>G (p.Thr142Ala) | |
| 17 | g.70175463A>T | CA400860570 | KCNJ2 | c.424A>T (p.Thr142Ser) | |
| 17 | g.70175464C>A | CA400860571 | KCNJ2 | c.425C>A (p.Thr142Asn) | |
| 17 | g.70175464C>G | CA400860572 | KCNJ2 | c.425C>G (p.Thr142Ser) | |
| 17 | g.70175464C>T | CA400860573 | KCNJ2 | c.425C>T (p.Thr142Ile) | ClinVar |
| 17 | g.70175465C>A | CA501700623 | KCNJ2 | c.426C>A (p.Thr142=) | |
| 17 | g.70175465C>G | CA501700622 | KCNJ2 | c.426C>G (p.Thr142=) | ClinVar |
| 17 | g.70175465C>T | CA501700621 | KCNJ2 | c.426C>T (p.Thr142=) | |
| 17 | g.70175466A>C | CA400860575 | KCNJ2 | c.427A>C (p.Ile143Leu) | |
| 17 | g.70175466A>G | CA400860576 | KCNJ2 | c.427A>G (p.Ile143Val) | gnomAD v4 |
| 17 | g.70175466A>T | CA400860574 | KCNJ2 | c.427A>T (p.Ile143Leu) | |
| 17 | g.70175467T>A | CA400860577 | KCNJ2 | c.428T>A (p.Ile143Lys) | |
| 17 | g.70175467T>C | CA400860578 | KCNJ2 | c.428T>C (p.Ile143Thr) | |
| 17 | g.70175467T>G | CA400860579 | KCNJ2 | c.428T>G (p.Ile143Arg) | |
| 17 | g.70175468A>C | CA501700627 | KCNJ2 | c.429A>C (p.Ile143=) | |
| 17 | g.70175468A>G | CA400860580 | KCNJ2 | c.429A>G (p.Ile143Met) |