Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.5044975G>A | CA6399724 | KCNA5 | c.828G>A (p.Arg276=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044975G>C | CA383465242 | KCNA5 | c.828G>C (p.Arg276Ser) | |
12 | g.5044975G= | CA2013430986 | KCNA5 | c.828G= (p.Arg276=) | |
12 | g.5044975G>T | CA383465241 | KCNA5 | c.828G>T (p.Arg276Ser) | |
12 | g.5044976G>A | CA6399725 | KCNA5 | c.829G>A (p.Asp277Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044976G>C | CA383465243 | KCNA5 | c.829G>C (p.Asp277His) | dbSNP gnomAD v4 |
12 | g.5044976G= | CA2013430987 | KCNA5 | c.829G= (p.Asp277=) | |
12 | g.5044976G>T | CA383465244 | KCNA5 | c.829G>T (p.Asp277Tyr) | gnomAD v4 |
12 | g.5044977A= | CA2013430988 | KCNA5 | c.830A= (p.Asp277=) | |
12 | g.5044977A>C | CA383465245 | KCNA5 | c.830A>C (p.Asp277Ala) | |
12 | g.5044977A>G | CA231867923 | KCNA5 | c.830A>G (p.Asp277Gly) | ClinVar dbSNP gnomAD v4 |
12 | g.5044977A>T | CA383465246 | KCNA5 | c.830A>T (p.Asp277Val) | |
12 | g.5044978T>A | CA383465247 | KCNA5 | c.831T>A (p.Asp277Glu) | gnomAD v4 |
12 | g.5044978T>C | CA478095197 | KCNA5 | c.831T>C (p.Asp277=) | gnomAD v4 |
12 | g.5044978T>G | CA383465248 | KCNA5 | c.831T>G (p.Asp277Glu) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.5044978T= | CA2013430989 | KCNA5 | c.831T= (p.Asp277=) | |
12 | g.5044979G>A | CA383465249 | KCNA5 | c.832G>A (p.Glu278Lys) | |
12 | g.5044979G>C | CA383465250 | KCNA5 | c.832G>C (p.Glu278Gln) | |
12 | g.5044979G>T | CA383465251 | KCNA5 | c.832G>T (p.Glu278Ter) | |
12 | g.5044980A>C | CA383465252 | KCNA5 | c.833A>C (p.Glu278Ala) | |
12 | g.5044980A>G | CA383465254 | KCNA5 | c.833A>G (p.Glu278Gly) | |
12 | g.5044980A>T | CA383465253 | KCNA5 | c.833A>T (p.Glu278Val) | |
12 | g.5044981A= | CA2013430990 | KCNA5 | c.834A= (p.Glu278=) | |
12 | g.5044981A>C | CA383465255 | KCNA5 | c.834A>C (p.Glu278Asp) | dbSNP gnomAD v4 |
12 | g.5044981A>G | CA478095210 | KCNA5 | c.834A>G (p.Glu278=) | gnomAD v4 |
12 | g.5044981A>T | CA383465256 | KCNA5 | c.834A>T (p.Glu278Asp) | |
12 | g.5044982C>A | CA383465257 | KCNA5 | c.835C>A (p.Arg279Ser) | COSMIC |
12 | g.5044982C= | CA2013430991 | KCNA5 | c.835C= (p.Arg279=) | |
12 | g.5044982C>G | CA383465258 | KCNA5 | c.835C>G (p.Arg279Gly) | |
12 | g.5044982C>T | CA6399726 | KCNA5 | c.835C>T (p.Arg279Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.5044983G>A | CA6399727 | KCNA5 | c.836G>A (p.Arg279His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5044983G>C | CA383465259 | KCNA5 | c.836G>C (p.Arg279Pro) | gnomAD v4 |
12 | g.5044983G= | CA2013430992 | KCNA5 | c.836G= (p.Arg279=) | |
12 | g.5044983G>T | CA383465260 | KCNA5 | c.836G>T (p.Arg279Leu) | dbSNP |
12 | g.5044984T>A | CA6399728 | KCNA5 | c.837T>A (p.Arg279=) | dbSNP ExAC gnomAD v2 |
12 | g.5044984T>C | CA478095211 | KCNA5 | c.837T>C (p.Arg279=) | |
12 | g.5044984T>G | CA478095212 | KCNA5 | c.837T>G (p.Arg279=) | |
12 | g.5044984T= | CA2013430993 | KCNA5 | c.837T= (p.Arg279=) | |
12 | g.5044985G>A | CA383465261 | KCNA5 | c.838G>A (p.Glu280Lys) | |
12 | g.5044985G>C | CA383465262 | KCNA5 | c.838G>C (p.Glu280Gln) | |
12 | g.5044985G>T | CA383465263 | KCNA5 | c.838G>T (p.Glu280Ter) | |
12 | g.5044986A>C | CA383465266 | KCNA5 | c.839A>C (p.Glu280Ala) | |
12 | g.5044986A>G | CA383465264 | KCNA5 | c.839A>G (p.Glu280Gly) | |
12 | g.5044986A>T | CA383465265 | KCNA5 | c.839A>T (p.Glu280Val) | |
12 | g.5044987G>A | CA478095215 | KCNA5 | c.840G>A (p.Glu280=) | |
12 | g.5044987G>C | CA383465267 | KCNA5 | c.840G>C (p.Glu280Asp) | |
12 | g.5044987G>T | CA383465268 | KCNA5 | c.840G>T (p.Glu280Asp) | gnomAD v4 |
12 | g.5044988C>A | CA383465269 | KCNA5 | c.841C>A (p.Leu281Met) | gnomAD v4 COSMIC |
12 | g.5044988C= | CA2013430994 | KCNA5 | c.841C= (p.Leu281=) | |
12 | g.5044988C>G | CA383465270 | KCNA5 | c.841C>G (p.Leu281Val) |