| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.5045937G>A | CA6399950 | KCNA5 | c.1790G>A (p.Arg597Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.5045937G>C | CA383467226 | KCNA5 | c.1790G>C (p.Arg597Pro) | dbSNP |
| 12 | g.5045937G= | CA2013431469 | KCNA5 | c.1790G= (p.Arg597=) | |
| 12 | g.5045937G>T | CA383467227 | KCNA5 | c.1790G>T (p.Arg597Leu) | dbSNP gnomAD v2 |
| 12 | g.5045938G>A | CA478095968 | KCNA5 | c.1791G>A (p.Arg597=) | |
| 12 | g.5045938G>C | CA478095969 | KCNA5 | c.1791G>C (p.Arg597=) | |
| 12 | g.5045938G>T | CA478095970 | KCNA5 | c.1791G>T (p.Arg597=) | |
| 12 | g.5045939A>C | CA478095972 | KCNA5 | c.1792A>C (p.Arg598=) | |
| 12 | g.5045939A>G | CA383467228 | KCNA5 | c.1792A>G (p.Arg598Gly) | |
| 12 | g.5045939A>T | CA383467229 | KCNA5 | c.1792A>T (p.Arg598Trp) | |
| 12 | g.5045940G>A | CA383467230 | KCNA5 | c.1793G>A (p.Arg598Lys) | |
| 12 | g.5045940G>C | CA383467231 | KCNA5 | c.1793G>C (p.Arg598Thr) | |
| 12 | g.5045940G>T | CA383467232 | KCNA5 | c.1793G>T (p.Arg598Met) | COSMIC |
| 12 | g.5045941G>A | CA478095974 | KCNA5 | c.1794G>A (p.Arg598=) | |
| 12 | g.5045941G>C | CA383467233 | KCNA5 | c.1794G>C (p.Arg598Ser) | |
| 12 | g.5045941G>T | CA383467234 | KCNA5 | c.1794G>T (p.Arg598Ser) | |
| 12 | g.5045942T>A | CA383467235 | KCNA5 | c.1795T>A (p.Ser599Thr) | |
| 12 | g.5045942T>C | CA383467236 | KCNA5 | c.1795T>C (p.Ser599Pro) | |
| 12 | g.5045942T>G | CA383467237 | KCNA5 | c.1795T>G (p.Ser599Ala) | |
| 12 | g.5045943C>A | CA383467239 | KCNA5 | c.1796C>A (p.Ser599Tyr) | |
| 12 | g.5045943C>G | CA383467240 | KCNA5 | c.1796C>G (p.Ser599Cys) | COSMIC |
| 12 | g.5045943C>T | CA383467238 | KCNA5 | c.1796C>T (p.Ser599Phe) | |
| 12 | g.5045943_5045944delinsGT | CA645578791 | KCNA5 | c.1796_1797delinsGT (p.Ser599Cys) | COSMIC |
| 12 | g.5045944C>A | CA478095977 | KCNA5 | c.1797C>A (p.Ser599=) | COSMIC |
| 12 | g.5045944C= | CA2013431470 | KCNA5 | c.1797C= (p.Ser599=) | |
| 12 | g.5045944C>G | CA6399951 | KCNA5 | c.1797C>G (p.Ser599=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.5045944C>T | CA478095978 | KCNA5 | c.1797C>T (p.Ser599=) | |
| 12 | g.5045945C>A | CA383467243 | KCNA5 | c.1798C>A (p.Leu600Ile) | gnomAD v4 |
| 12 | g.5045945C>G | CA383467241 | KCNA5 | c.1798C>G (p.Leu600Val) | |
| 12 | g.5045945C>T | CA383467242 | KCNA5 | c.1798C>T (p.Leu600Phe) | |
| 12 | g.5045946T>A | CA383467244 | KCNA5 | c.1799T>A (p.Leu600His) | |
| 12 | g.5045946T>C | CA383467245 | KCNA5 | c.1799T>C (p.Leu600Pro) | |
| 12 | g.5045946T>G | CA383467246 | KCNA5 | c.1799T>G (p.Leu600Arg) | |
| 12 | g.5045947T>A | CA478095982 | KCNA5 | c.1800T>A (p.Leu600=) | |
| 12 | g.5045947T>C | CA478095983 | KCNA5 | c.1800T>C (p.Leu600=) | |
| 12 | g.5045947T>G | CA478095981 | KCNA5 | c.1800T>G (p.Leu600=) | |
| 12 | g.5045948T>A | CA383467247 | KCNA5 | c.1801T>A (p.Tyr601Asn) | gnomAD v4 |
| 12 | g.5045948T>C | CA383467248 | KCNA5 | c.1801T>C (p.Tyr601His) | |
| 12 | g.5045948T>G | CA383467249 | KCNA5 | c.1801T>G (p.Tyr601Asp) | |
| 12 | g.5045949A= | CA2013431471 | KCNA5 | c.1802A= (p.Tyr601=) | |
| 12 | g.5045949A>C | CA383467250 | KCNA5 | c.1802A>C (p.Tyr601Ser) | |
| 12 | g.5045949A>G | CA383467251 | KCNA5 | c.1802A>G (p.Tyr601Cys) | |
| 12 | g.5045949A>T | CA383467252 | KCNA5 | c.1802A>T (p.Tyr601Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.5045950T>A | CA383467254 | KCNA5 | c.1803T>A (p.Tyr601Ter) | |
| 12 | g.5045950T>C | CA478095987 | KCNA5 | c.1803T>C (p.Tyr601=) | dbSNP gnomAD v4 |
| 12 | g.5045950T>G | CA383467253 | KCNA5 | c.1803T>G (p.Tyr601Ter) | |
| 12 | g.5045950T= | CA2013431472 | KCNA5 | c.1803T= (p.Tyr601=) | |
| 12 | g.5045951G>A | CA383467255 | KCNA5 | c.1804G>A (p.Ala602Thr) | |
| 12 | g.5045951G>C | CA383467256 | KCNA5 | c.1804G>C (p.Ala602Pro) | |
| 12 | g.5045951G>T | CA383467257 | KCNA5 | c.1804G>T (p.Ala602Ser) |