| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.5044995_5045012dup | CA6399730 | KCNA5 | c.848_865dup (p.Pro288_His289insArgHisProProAlaPro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.5044995_5045012del | CA2617209905 | KCNA5 | c.848_865del (p.Arg283_Pro288del) | gnomAD v4 |
| 12 | g.5044995_5045013delinsGCCACCCTCCGGCGCCCCA | CA2013430999 | KCNA5 | c.848_866delinsGCCACCCTCCGGCGCCCCA (p.Arg283=) | |
| 12 | g.5044999_5045016del | CA6399732 | KCNA5 | c.852_869del (p.His284_His289del) | ClinVar dbSNP ExAC gnomAD v4 |
| 12 | g.5045008G>A | CA478095246 | KCNA5 | c.861G>A (p.Ala287=) | gnomAD v4 COSMIC |
| 12 | g.5045008G>C | CA478095244 | KCNA5 | c.861G>C (p.Ala287=) | |
| 12 | g.5045008G>T | CA478095245 | KCNA5 | c.861G>T (p.Ala287=) | gnomAD v4 |
| 12 | g.5045009C>A | CA383465306 | KCNA5 | c.862C>A (p.Pro288Thr) | |
| 12 | g.5045009C>G | CA383465307 | KCNA5 | c.862C>G (p.Pro288Ala) | |
| 12 | g.5045009C>T | CA383465308 | KCNA5 | c.862C>T (p.Pro288Ser) | gnomAD v4 |
| 12 | g.5045010C>A | CA383465309 | KCNA5 | c.863C>A (p.Pro288His) | |
| 12 | g.5045010C>G | CA383465310 | KCNA5 | c.863C>G (p.Pro288Arg) | |
| 12 | g.5045010C>T | CA383465311 | KCNA5 | c.863C>T (p.Pro288Leu) | |
| 12 | g.5045011C>A | CA478095247 | KCNA5 | c.864C>A (p.Pro288=) | |
| 12 | g.5045011C= | CA2013431011 | KCNA5 | c.864C= (p.Pro288=) | |
| 12 | g.5045011C>G | CA478095248 | KCNA5 | c.864C>G (p.Pro288=) | |
| 12 | g.5045011C>T | CA478095249 | KCNA5 | c.864C>T (p.Pro288=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.5045012C>A | CA383465312 | KCNA5 | c.865C>A (p.His289Asn) | |
| 12 | g.5045012C= | CA2013431012 | KCNA5 | c.865C= (p.His289=) | |
| 12 | g.5045012C>G | CA383465313 | KCNA5 | c.865C>G (p.His289Asp) | |
| 12 | g.5045012C>T | CA383465314 | KCNA5 | c.865C>T (p.His289Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.5045013A>C | CA383465315 | KCNA5 | c.866A>C (p.His289Pro) | |
| 12 | g.5045013A>G | CA383465316 | KCNA5 | c.866A>G (p.His289Arg) | gnomAD v4 COSMIC |
| 12 | g.5045013A>T | CA383465317 | KCNA5 | c.866A>T (p.His289Leu) | |
| 12 | g.5045014C>A | CA383465318 | KCNA5 | c.867C>A (p.His289Gln) | dbSNP |
| 12 | g.5045014C>G | CA383465319 | KCNA5 | c.867C>G (p.His289Gln) | |
| 12 | g.5045014C>T | CA478095252 | KCNA5 | c.867C>T (p.His289=) | |
| 12 | g.5045015C>A | CA6399739 | KCNA5 | c.868C>A (p.Gln290Lys) | dbSNP ExAC gnomAD v2 COSMIC |
| 12 | g.5045015C= | CA2013431013 | KCNA5 | c.868C= (p.Gln290=) | |
| 12 | g.5045015C>G | CA383465320 | KCNA5 | c.868C>G (p.Gln290Glu) | |
| 12 | g.5045015C>T | CA383465321 | KCNA5 | c.868C>T (p.Gln290Ter) | |
| 12 | g.5045016A>C | CA383465322 | KCNA5 | c.869A>C (p.Gln290Pro) | |
| 12 | g.5045016A>G | CA383465323 | KCNA5 | c.869A>G (p.Gln290Arg) | |
| 12 | g.5045016A>T | CA383465324 | KCNA5 | c.869A>T (p.Gln290Leu) | |
| 12 | g.5045017G>A | CA6399740 | KCNA5 | c.870G>A (p.Gln290=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.5045017G>C | CA383465325 | KCNA5 | c.870G>C (p.Gln290His) | |
| 12 | g.5045017G= | CA2013431014 | KCNA5 | c.870G= (p.Gln290=) | |
| 12 | g.5045017G>T | CA383465326 | KCNA5 | c.870G>T (p.Gln290His) | |
| 12 | g.5045018C>A | CA383465327 | KCNA5 | c.871C>A (p.Pro291Thr) | |
| 12 | g.5045018C= | CA2013431015 | KCNA5 | c.871C= (p.Pro291=) | |
| 12 | g.5045018C>G | CA231868038 | KCNA5 | c.871C>G (p.Pro291Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.5045018C>T | CA383465328 | KCNA5 | c.871C>T (p.Pro291Ser) | |
| 12 | g.5045019C>A | CA383465329 | KCNA5 | c.872C>A (p.Pro291His) | |
| 12 | g.5045019C>G | CA383465331 | KCNA5 | c.872C>G (p.Pro291Arg) | |
| 12 | g.5045019C>T | CA383465330 | KCNA5 | c.872C>T (p.Pro291Leu) | gnomAD v4 |
| 12 | g.5045020T>A | CA478095256 | KCNA5 | c.873T>A (p.Pro291=) | |
| 12 | g.5045020T>C | CA478095258 | KCNA5 | c.873T>C (p.Pro291=) | |
| 12 | g.5045020T>G | CA478095257 | KCNA5 | c.873T>G (p.Pro291=) | |
| 12 | g.5045021C>A | CA383465332 | KCNA5 | c.874C>A (p.Pro292Thr) | |
| 12 | g.5045021C= | CA2013431016 | KCNA5 | c.874C= (p.Pro292=) |