| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.70170730_70175461del | CA1139665860 | KCNJ2 | c.-217+1029_422del c.-217+1873_422del | ClinVar |
| 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) | |
| 17 | g.70175468A>T | CA501700628 | KCNJ2 | c.429A>T (p.Ile143=) | |
| 17 | g.70175469G>A | CA329666 | KCNJ2 | c.430G>A (p.Gly144Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.70175469G>C | CA400860582 | KCNJ2 | c.430G>C (p.Gly144Arg) | |
| 17 | g.70175469G= | CA2272996571 | KCNJ2 | c.430G= (p.Gly144=) | |
| 17 | g.70175469G>T | CA400860581 | KCNJ2 | c.430G>T (p.Gly144Cys) | |
| 17 | g.70175470G>A | CA329669 | KCNJ2 | c.431G>A (p.Gly144Asp) | ClinVar dbSNP |
| 17 | g.70175470G>C | CA329672 | KCNJ2 | c.431G>C (p.Gly144Ala) | ClinVar dbSNP |
| 17 | g.70175470G= | CA2272996572 | KCNJ2 | c.431G= (p.Gly144=) | |
| 17 | g.70175470G>T | CA400860583 | KCNJ2 | c.431G>T (p.Gly144Val) | ClinVar |
| 17 | g.70175471C>A | CA501700635 | KCNJ2 | c.432C>A (p.Gly144=) | dbSNP |
| 17 | g.70175471C= | CA2272996573 | KCNJ2 | c.432C= (p.Gly144=) | |
| 17 | g.70175471C>G | CA501700636 | KCNJ2 | c.432C>G (p.Gly144=) | |
| 17 | g.70175471C>T | CA501700637 | KCNJ2 | c.432C>T (p.Gly144=) | |
| 17 | g.70175472T>A | CA400860584 | KCNJ2 | c.433T>A (p.Tyr145Asn) | |
| 17 | g.70175472T>C | CA400860585 | KCNJ2 | c.433T>C (p.Tyr145His) | |
| 17 | g.70175472T>G | CA400860586 | KCNJ2 | c.433T>G (p.Tyr145Asp) | |
| 17 | g.70175473A= | CA2272996574 | KCNJ2 | c.434A= (p.Tyr145=) | |
| 17 | g.70175473A>C | CA400860587 | KCNJ2 | c.434A>C (p.Tyr145Ser) | |
| 17 | g.70175473A>G | CA400860589 | KCNJ2 | c.434A>G (p.Tyr145Cys) | ClinVar dbSNP |
| 17 | g.70175473A>T | CA400860588 | KCNJ2 | c.434A>T (p.Tyr145Phe) | COSMIC |
| 17 | g.70175474T>A | CA400860590 | KCNJ2 | c.435T>A (p.Tyr145Ter) | |
| 17 | g.70175474T>C | CA8738728 | KCNJ2 | c.435T>C (p.Tyr145=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.70175474T>G | CA400860591 | KCNJ2 | c.435T>G (p.Tyr145Ter) | |
| 17 | g.70175474T= | CA2272996575 | KCNJ2 | c.435T= (p.Tyr145=) | |
| 17 | g.70175475G>A | CA329675 | KCNJ2 | c.436G>A (p.Gly146Ser) | ClinVar dbSNP |
| 17 | g.70175475G>C | CA400860592 | KCNJ2 | c.436G>C (p.Gly146Arg) | ClinVar dbSNP |