| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.5045837T>A | CA383467018 | KCNA5 | c.1690T>A (p.Cys564Ser) | |
| 12 | g.5045837T>C | CA383467019 | KCNA5 | c.1690T>C (p.Cys564Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.5045837T>G | CA383467020 | KCNA5 | c.1690T>G (p.Cys564Gly) | |
| 12 | g.5045837T= | CA2013431417 | KCNA5 | c.1690T= (p.Cys564=) | |
| 12 | g.5045838G>A | CA231869276 | KCNA5 | c.1691G>A (p.Cys564Tyr) | dbSNP |
| 12 | g.5045838G>C | CA383467021 | KCNA5 | c.1691G>C (p.Cys564Ser) | |
| 12 | g.5045838G= | CA2013431418 | KCNA5 | c.1691G= (p.Cys564=) | |
| 12 | g.5045838G>T | CA383467022 | KCNA5 | c.1691G>T (p.Cys564Phe) | |
| 12 | g.5045839C>A | CA383467023 | KCNA5 | c.1692C>A (p.Cys564Ter) | |
| 12 | g.5045839C>G | CA383467024 | KCNA5 | c.1692C>G (p.Cys564Trp) | |
| 12 | g.5045839C>T | CA478095855 | KCNA5 | c.1692C>T (p.Cys564=) | gnomAD v4 |
| 12 | g.5045840A= | CA2013431419 | KCNA5 | c.1693A= (p.Lys565=) | |
| 12 | g.5045840A>C | CA383467025 | KCNA5 | c.1693A>C (p.Lys565Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.5045840A>G | CA383467026 | KCNA5 | c.1693A>G (p.Lys565Glu) | |
| 12 | g.5045840A>T | CA383467027 | KCNA5 | c.1693A>T (p.Lys565Ter) | |
| 12 | g.5045841A>C | CA383467028 | KCNA5 | c.1694A>C (p.Lys565Thr) | |
| 12 | g.5045841A>G | CA383467029 | KCNA5 | c.1694A>G (p.Lys565Arg) | |
| 12 | g.5045841A>T | CA383467030 | KCNA5 | c.1694A>T (p.Lys565Met) | |
| 12 | g.5045842G>A | CA6399923 | KCNA5 | c.1695G>A (p.Lys565=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.5045842G>C | CA383467032 | KCNA5 | c.1695G>C (p.Lys565Asn) | dbSNP COSMIC |
| 12 | g.5045842G= | CA2013431420 | KCNA5 | c.1695G= (p.Lys565=) | |
| 12 | g.5045842G>T | CA383467031 | KCNA5 | c.1695G>T (p.Lys565Asn) | |
| 12 | g.5045843G>A | CA383467033 | KCNA5 | c.1696G>A (p.Ala566Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.5045843G>C | CA383467034 | KCNA5 | c.1696G>C (p.Ala566Pro) | ClinVar dbSNP |
| 12 | g.5045843G>T | CA383467035 | KCNA5 | c.1696G>T (p.Ala566Ser) | |
| 12 | g.5045843_5045845delinsGCT | CA2013431421 | KCNA5 | c.1696_1698delinsGCT (p.Ala566=) | |
| 12 | g.5045844C>A | CA383467036 | KCNA5 | c.1697C>A (p.Ala566Asp) | |
| 12 | g.5045844C>G | CA383467037 | KCNA5 | c.1697C>G (p.Ala566Gly) | |
| 12 | g.5045844C>T | CA383467038 | KCNA5 | c.1697C>T (p.Ala566Val) | |
| 12 | g.5045844_5045845del | CA6399924 | KCNA5 | c.1697_1698del (p.Ala566GlyfsTer21) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.5045845T>A | CA478095859 | KCNA5 | c.1698T>A (p.Ala566=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.5045845T>C | CA478095860 | KCNA5 | c.1698T>C (p.Ala566=) | |
| 12 | g.5045845T>G | CA478095861 | KCNA5 | c.1698T>G (p.Ala566=) | dbSNP |
| 12 | g.5045845T= | CA2013431422 | KCNA5 | c.1698T= (p.Ala566=) | |
| 12 | g.5045845_5045846delinsTG | CA2013431423 | KCNA5 | c.1698_1699delinsTG (p.Ala566=) | |
| 12 | g.5045846G>A | CA383467039 | KCNA5 | c.1699G>A (p.Gly567Arg) | gnomAD v4 |
| 12 | g.5045846G>C | CA6399925 | KCNA5 | c.1699G>C (p.Gly567Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.5045846G= | CA2013431425 | KCNA5 | c.1699G= (p.Gly567=) | |
| 12 | g.5045846G>T | CA383467040 | KCNA5 | c.1699G>T (p.Gly567Trp) | |
| 12 | g.5045851dup | CA2013431424 | KCNA5 | c.1704dup (p.Thr569AspfsTer19) | ClinVar dbSNP gnomAD v4 |
| 12 | g.5045851del | CA919011889 | KCNA5 | c.1704del (p.Thr569ProfsTer15) | dbSNP gnomAD v4 |
| 12 | g.5045847G>A | CA383467041 | KCNA5 | c.1700G>A (p.Gly567Glu) | ClinVar dbSNP gnomAD v4 |
| 12 | g.5045847G>C | CA383467042 | KCNA5 | c.1700G>C (p.Gly567Ala) | |
| 12 | g.5045847G= | CA2013431426 | KCNA5 | c.1700G= (p.Gly567=) | |
| 12 | g.5045847G>T | CA383467043 | KCNA5 | c.1700G>T (p.Gly567Val) | |
| 12 | g.5045848G>A | CA6399926 | KCNA5 | c.1701G>A (p.Gly567=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.5045848G>C | CA478095863 | KCNA5 | c.1701G>C (p.Gly567=) | |
| 12 | g.5045848G= | CA2013431427 | KCNA5 | c.1701G= (p.Gly567=) | |
| 12 | g.5045848G>T | CA478095864 | KCNA5 | c.1701G>T (p.Gly567=) | COSMIC |
| 12 | g.5045849G>A | CA383467045 | KCNA5 | c.1702G>A (p.Gly568Arg) | dbSNP gnomAD v4 |