Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
12 | g.5045952C>A | CA383467258 | KCNA5 | c.1805C>A (p.Ala602Asp) | |
12 | g.5045952C>G | CA383467259 | KCNA5 | c.1805C>G (p.Ala602Gly) | |
12 | g.5045952C>T | CA383467260 | KCNA5 | c.1805C>T (p.Ala602Val) | gnomAD v4 |
12 | g.5045953C>A | CA478095991 | KCNA5 | c.1806C>A (p.Ala602=) | |
12 | g.5045953C>G | CA478095992 | KCNA5 | c.1806C>G (p.Ala602=) | gnomAD v4 |
12 | g.5045953C>T | CA478095994 | KCNA5 | c.1806C>T (p.Ala602=) | |
12 | g.5045954C>A | CA383467261 | KCNA5 | c.1807C>A (p.Leu603Ile) | |
12 | g.5045954C>G | CA383467262 | KCNA5 | c.1807C>G (p.Leu603Val) | |
12 | g.5045954C>T | CA383467263 | KCNA5 | c.1807C>T (p.Leu603Phe) | |
12 | g.5045955T>A | CA383467264 | KCNA5 | c.1808T>A (p.Leu603His) | |
12 | g.5045955T>C | CA383467265 | KCNA5 | c.1808T>C (p.Leu603Pro) | |
12 | g.5045955T>G | CA383467266 | KCNA5 | c.1808T>G (p.Leu603Arg) | |
12 | g.5045956C>A | CA478095996 | KCNA5 | c.1809C>A (p.Leu603=) | |
12 | g.5045956C>G | CA478095997 | KCNA5 | c.1809C>G (p.Leu603=) | |
12 | g.5045956C>T | CA478095998 | KCNA5 | c.1809C>T (p.Leu603=) | |
12 | g.5045957T>A | CA383467268 | KCNA5 | c.1810T>A (p.Cys604Ser) | |
12 | g.5045957T>C | CA383467269 | KCNA5 | c.1810T>C (p.Cys604Arg) | |
12 | g.5045957T>G | CA383467267 | KCNA5 | c.1810T>G (p.Cys604Gly) | |
12 | g.5045958G>A | CA383467270 | KCNA5 | c.1811G>A (p.Cys604Tyr) | |
12 | g.5045958G>C | CA383467271 | KCNA5 | c.1811G>C (p.Cys604Ser) | |
12 | g.5045958G>T | CA383467272 | KCNA5 | c.1811G>T (p.Cys604Phe) | gnomAD v4 |
12 | g.5045959C>A | CA383467273 | KCNA5 | c.1812C>A (p.Cys604Ter) | |
12 | g.5045959C= | CA2013431473 | KCNA5 | c.1812C= (p.Cys604=) | |
12 | g.5045959C>G | CA383467274 | KCNA5 | c.1812C>G (p.Cys604Trp) | |
12 | g.5045959C>T | CA231869392 | KCNA5 | c.1812C>T (p.Cys604=) | dbSNP |
12 | g.5045960C>A | CA383467275 | KCNA5 | c.1813C>A (p.Leu605Met) | dbSNP |
12 | g.5045960C= | CA2013431474 | KCNA5 | c.1813C= (p.Leu605=) | |
12 | g.5045960C>G | CA383467276 | KCNA5 | c.1813C>G (p.Leu605Val) | dbSNP |
12 | g.5045960C>T | CA478096003 | KCNA5 | c.1813C>T (p.Leu605=) | |
12 | g.5045961T>A | CA383467277 | KCNA5 | c.1814T>A (p.Leu605Gln) | |
12 | g.5045961T>C | CA383467279 | KCNA5 | c.1814T>C (p.Leu605Pro) | |
12 | g.5045961T>G | CA383467278 | KCNA5 | c.1814T>G (p.Leu605Arg) | |
12 | g.5045962G>A | CA6399952 | KCNA5 | c.1815G>A (p.Leu605=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045962G>C | CA478096007 | KCNA5 | c.1815G>C (p.Leu605=) | |
12 | g.5045962G= | CA2013431475 | KCNA5 | c.1815G= (p.Leu605=) | |
12 | g.5045962G>T | CA478096008 | KCNA5 | c.1815G>T (p.Leu605=) | gnomAD v4 |