| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.5045544G>A | CA383466397 | KCNA5 | c.1397G>A (p.Ser466Asn) | gnomAD v4 |
| 12 | g.5045544G>C | CA383466398 | KCNA5 | c.1397G>C (p.Ser466Thr) | gnomAD v4 |
| 12 | g.5045544G>T | CA383466399 | KCNA5 | c.1397G>T (p.Ser466Ile) | |
| 12 | g.5045545C>A | CA383466401 | KCNA5 | c.1398C>A (p.Ser466Arg) | |
| 12 | g.5045545C>G | CA383466400 | KCNA5 | c.1398C>G (p.Ser466Arg) | |
| 12 | g.5045545C>T | CA478095862 | KCNA5 | c.1398C>T (p.Ser466=) | |
| 12 | g.5045546A>C | CA383466402 | KCNA5 | c.1399A>C (p.Ile467Leu) | |
| 12 | g.5045546A>G | CA383466403 | KCNA5 | c.1399A>G (p.Ile467Val) | |
| 12 | g.5045546A>T | CA383466404 | KCNA5 | c.1399A>T (p.Ile467Phe) | |
| 12 | g.5045547T>A | CA383466405 | KCNA5 | c.1400T>A (p.Ile467Asn) | |
| 12 | g.5045547T>C | CA6399863 | KCNA5 | c.1400T>C (p.Ile467Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.5045547T>G | CA383466406 | KCNA5 | c.1400T>G (p.Ile467Ser) | |
| 12 | g.5045547T= | CA2013431274 | KCNA5 | c.1400T= (p.Ile467=) | |
| 12 | g.5045548C>A | CA478095865 | KCNA5 | c.1401C>A (p.Ile467=) | dbSNP |
| 12 | g.5045548C= | CA2013431275 | KCNA5 | c.1401C= (p.Ile467=) | |
| 12 | g.5045548C>G | CA383466407 | KCNA5 | c.1401C>G (p.Ile467Met) | |
| 12 | g.5045548C>T | CA478095869 | KCNA5 | c.1401C>T (p.Ile467=) | |
| 12 | g.5045549C>A | CA383466408 | KCNA5 | c.1402C>A (p.Pro468Thr) | |
| 12 | g.5045549C>G | CA383466409 | KCNA5 | c.1402C>G (p.Pro468Ala) | |
| 12 | g.5045549C>T | CA383466410 | KCNA5 | c.1402C>T (p.Pro468Ser) | gnomAD v4 |
| 12 | g.5045550C>A | CA383466411 | KCNA5 | c.1403C>A (p.Pro468His) | |
| 12 | g.5045550C>G | CA383466412 | KCNA5 | c.1403C>G (p.Pro468Arg) | |
| 12 | g.5045550C>T | CA383466413 | KCNA5 | c.1403C>T (p.Pro468Leu) | gnomAD v4 |
| 12 | g.5045551T>A | CA478095872 | KCNA5 | c.1404T>A (p.Pro468=) | |
| 12 | g.5045551T>C | CA478095873 | KCNA5 | c.1404T>C (p.Pro468=) | |
| 12 | g.5045551T>G | CA478095874 | KCNA5 | c.1404T>G (p.Pro468=) | dbSNP gnomAD v4 |
| 12 | g.5045551T= | CA2013431276 | KCNA5 | c.1404T= (p.Pro468=) | |
| 12 | g.5045552G>A | CA383466416 | KCNA5 | c.1405G>A (p.Asp469Asn) | |
| 12 | g.5045552G>C | CA383466415 | KCNA5 | c.1405G>C (p.Asp469His) | |
| 12 | g.5045552G>T | CA383466414 | KCNA5 | c.1405G>T (p.Asp469Tyr) | |
| 12 | g.5045553A>C | CA383466419 | KCNA5 | c.1406A>C (p.Asp469Ala) | |
| 12 | g.5045553A>G | CA383466417 | KCNA5 | c.1406A>G (p.Asp469Gly) | |
| 12 | g.5045553A>T | CA383466418 | KCNA5 | c.1406A>T (p.Asp469Val) | |
| 12 | g.5045554C>A | CA6399864 | KCNA5 | c.1407C>A (p.Asp469Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.5045554C= | CA2013431277 | KCNA5 | c.1407C= (p.Asp469=) | |
| 12 | g.5045554C>G | CA383466420 | KCNA5 | c.1407C>G (p.Asp469Glu) | |
| 12 | g.5045554C>T | CA6399865 | KCNA5 | c.1407C>T (p.Asp469=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.5045555G>A | CA383466423 | KCNA5 | c.1408G>A (p.Ala470Thr) | ClinVar dbSNP gnomAD v4 |
| 12 | g.5045555G>C | CA383466422 | KCNA5 | c.1408G>C (p.Ala470Pro) | |
| 12 | g.5045555G= | CA2013431278 | KCNA5 | c.1408G= (p.Ala470=) | |
| 12 | g.5045555G>T | CA383466421 | KCNA5 | c.1408G>T (p.Ala470Ser) | |
| 12 | g.5045556C>A | CA383466424 | KCNA5 | c.1409C>A (p.Ala470Asp) | |
| 12 | g.5045556C= | CA2013431279 | KCNA5 | c.1409C= (p.Ala470=) | |
| 12 | g.5045556C>G | CA383466425 | KCNA5 | c.1409C>G (p.Ala470Gly) | |
| 12 | g.5045556C>T | CA383466426 | KCNA5 | c.1409C>T (p.Ala470Val) | dbSNP gnomAD v2 |
| 12 | g.5045557C>A | CA478095879 | KCNA5 | c.1410C>A (p.Ala470=) | |
| 12 | g.5045557C>G | CA478095880 | KCNA5 | c.1410C>G (p.Ala470=) | gnomAD v4 |
| 12 | g.5045557C>T | CA478095883 | KCNA5 | c.1410C>T (p.Ala470=) | gnomAD v4 |
| 12 | g.5045558T>A | CA383466427 | KCNA5 | c.1411T>A (p.Phe471Ile) | |
| 12 | g.5045558T>C | CA383466428 | KCNA5 | c.1411T>C (p.Phe471Leu) |