12 | g.5044952T>A | CA383465193 | KCNA5 | c.805T>A (p.Leu269Met)
| dbSNP |
12 | g.5044952T>C | CA478095413 | KCNA5 | c.805T>C (p.Leu269=)
| |
12 | g.5044952T>G | CA383465194 | KCNA5 | c.805T>G (p.Leu269Val)
| |
12 | g.5044952T= | CA2013430972 | KCNA5 | c.805T= (p.Leu269=)
| |
12 | g.5044953T>A | CA383465195 | KCNA5 | c.806T>A (p.Leu269Ter)
| |
12 | g.5044953T>C | CA383465196 | KCNA5 | c.806T>C (p.Leu269Ser)
| |
12 | g.5044953T>G | CA383465197 | KCNA5 | c.806T>G (p.Leu269Trp)
| |
12 | g.5044954G>A | CA6399720 | KCNA5 | c.807G>A (p.Leu269=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044954G>C | CA383465199 | KCNA5 | c.807G>C (p.Leu269Phe)
| |
12 | g.5044954G= | CA2013430973 | KCNA5 | c.807G= (p.Leu269=)
| |
12 | g.5044954G>T | CA383465198 | KCNA5 | c.807G>T (p.Leu269Phe)
| |
12 | g.5044955G>A | CA383465202 | KCNA5 | c.808G>A (p.Glu270Lys)
| |
12 | g.5044955G>C | CA383465200 | KCNA5 | c.808G>C (p.Glu270Gln)
| COSMIC |
12 | g.5044955G>T | CA383465201 | KCNA5 | c.808G>T (p.Glu270Ter)
| |
12 | g.5044956A= | CA2013430974 | KCNA5 | c.809A= (p.Glu270=)
| |
12 | g.5044956A>C | CA383465203 | KCNA5 | c.809A>C (p.Glu270Ala)
| |
12 | g.5044956A>G | CA383465204 | KCNA5 | c.809A>G (p.Glu270Gly)
| |
12 | g.5044956A>T | CA231867871 | KCNA5 | c.809A>T (p.Glu270Val)
| dbSNP |
12 | g.5044957G>A | CA478095421 | KCNA5 | c.810G>A (p.Glu270=)
| |
12 | g.5044957G>C | CA231867872 | KCNA5 | c.810G>C (p.Glu270Asp)
| dbSNP |
12 | g.5044957G= | CA2013430975 | KCNA5 | c.810G= (p.Glu270=)
| |
12 | g.5044957G>T | CA383465205 | KCNA5 | c.810G>T (p.Glu270Asp)
| |
12 | g.5044958A= | CA2013430976 | KCNA5 | c.811A= (p.Thr271=)
| |
12 | g.5044958A>C | CA383465206 | KCNA5 | c.811A>C (p.Thr271Pro)
| dbSNP gnomAD v4 |
12 | g.5044958A>G | CA383465207 | KCNA5 | c.811A>G (p.Thr271Ala)
| |
12 | g.5044958A>T | CA383465208 | KCNA5 | c.811A>T (p.Thr271Ser)
| |
12 | g.5044959C>A | CA6399721 | KCNA5 | c.812C>A (p.Thr271Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044959C= | CA2013430977 | KCNA5 | c.812C= (p.Thr271=)
| |
12 | g.5044959C>G | CA383465209 | KCNA5 | c.812C>G (p.Thr271Ser)
| gnomAD v4 |
12 | g.5044959C>T | CA383465210 | KCNA5 | c.812C>T (p.Thr271Ile)
| gnomAD v4 |
12 | g.5044960C>A | CA478095427 | KCNA5 | c.813C>A (p.Thr271=)
| dbSNP |
12 | g.5044960C>G | CA478095429 | KCNA5 | c.813C>G (p.Thr271=)
| |
12 | g.5044960C>T | CA478095428 | KCNA5 | c.813C>T (p.Thr271=)
| gnomAD v4 |
12 | g.5044961C>A | CA383465212 | KCNA5 | c.814C>A (p.Leu272Met)
| |
12 | g.5044961C= | CA2013430978 | KCNA5 | c.814C= (p.Leu272=)
| |
12 | g.5044961C>G | CA383465211 | KCNA5 | c.814C>G (p.Leu272Val)
| |
12 | g.5044961C>T | CA478095432 | KCNA5 | c.814C>T (p.Leu272=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044962T>A | CA383465213 | KCNA5 | c.815T>A (p.Leu272Gln)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5044962T>C | CA383465214 | KCNA5 | c.815T>C (p.Leu272Pro)
| |
12 | g.5044962T>G | CA383465215 | KCNA5 | c.815T>G (p.Leu272Arg)
| |
12 | g.5044962T= | CA2013430979 | KCNA5 | c.815T= (p.Leu272=)
| |
12 | g.5044963G>A | CA6399722 | KCNA5 | c.816G>A (p.Leu272=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044963G>C | CA478095435 | KCNA5 | c.816G>C (p.Leu272=)
| |
12 | g.5044963G= | CA2013430980 | KCNA5 | c.816G= (p.Leu272=)
| |
12 | g.5044963G>T | CA478095436 | KCNA5 | c.816G>T (p.Leu272=)
| |
12 | g.5044964C>A | CA383465216 | KCNA5 | c.817C>A (p.Pro273Thr)
| gnomAD v4 |
12 | g.5044964C= | CA2013430981 | KCNA5 | c.817C= (p.Pro273=)
| |
12 | g.5044964C>G | CA383465217 | KCNA5 | c.817C>G (p.Pro273Ala)
| |
12 | g.5044964C>T | CA383465218 | KCNA5 | c.817C>T (p.Pro273Ser)
| dbSNP gnomAD v2 COSMIC |
12 | g.5044965C>A | CA383465219 | KCNA5 | c.818C>A (p.Pro273His)
| gnomAD v4 |
12 | g.5044965C>G | CA383465220 | KCNA5 | c.818C>G (p.Pro273Arg)
| |
12 | g.5044965C>T | CA383465221 | KCNA5 | c.818C>T (p.Pro273Leu)
| |
12 | g.5044966T>A | CA478095439 | KCNA5 | c.819T>A (p.Pro273=)
| |
12 | g.5044966T>C | CA478095442 | KCNA5 | c.819T>C (p.Pro273=)
| |
12 | g.5044966T>G | CA478095440 | KCNA5 | c.819T>G (p.Pro273=)
| |
12 | g.5044967G>A | CA383465222 | KCNA5 | c.820G>A (p.Glu274Lys)
| gnomAD v4 |
12 | g.5044967G>C | CA383465223 | KCNA5 | c.820G>C (p.Glu274Gln)
| |
12 | g.5044967G>T | CA383465224 | KCNA5 | c.820G>T (p.Glu274Ter)
| |
12 | g.5044968A>C | CA383465226 | KCNA5 | c.821A>C (p.Glu274Ala)
| |
12 | g.5044968A>G | CA383465227 | KCNA5 | c.821A>G (p.Glu274Gly)
| |
12 | g.5044968A>T | CA383465225 | KCNA5 | c.821A>T (p.Glu274Val)
| gnomAD v4 |
12 | g.5044969G>A | CA478095449 | KCNA5 | c.822G>A (p.Glu274=)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5044969G>C | CA383465228 | KCNA5 | c.822G>C (p.Glu274Asp)
| |
12 | g.5044969G= | CA2013430982 | KCNA5 | c.822G= (p.Glu274=)
| |
12 | g.5044969G>T | CA383465229 | KCNA5 | c.822G>T (p.Glu274Asp)
| |
12 | g.5044970T>A | CA383465230 | KCNA5 | c.823T>A (p.Phe275Ile)
| |
12 | g.5044970T>C | CA383465231 | KCNA5 | c.823T>C (p.Phe275Leu)
| |
12 | g.5044970T>G | CA383465232 | KCNA5 | c.823T>G (p.Phe275Val)
| |
12 | g.5044971T>A | CA383465233 | KCNA5 | c.824T>A (p.Phe275Tyr)
| gnomAD v4 |
12 | g.5044971T>C | CA383465234 | KCNA5 | c.824T>C (p.Phe275Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.5044971T>G | CA383465235 | KCNA5 | c.824T>G (p.Phe275Cys)
| |
12 | g.5044971T= | CA2013430983 | KCNA5 | c.824T= (p.Phe275=)
| |
12 | g.5044972C>A | CA231867903 | KCNA5 | c.825C>A (p.Phe275Leu)
| dbSNP |
12 | g.5044972C= | CA2013430984 | KCNA5 | c.825C= (p.Phe275=)
| |
12 | g.5044972C>G | CA383465236 | KCNA5 | c.825C>G (p.Phe275Leu)
| gnomAD v4 |
12 | g.5044972C>T | CA478095455 | KCNA5 | c.825C>T (p.Phe275=)
| |
12 | g.5044973A>C | CA478095456 | KCNA5 | c.826A>C (p.Arg276=)
| |
12 | g.5044973A>G | CA383465237 | KCNA5 | c.826A>G (p.Arg276Gly)
| |
12 | g.5044973A>T | CA383465238 | KCNA5 | c.826A>T (p.Arg276Trp)
| |
12 | g.5044973_5044974del | CA2841912336 | KCNA5 | c.826_827del (p.Arg276GlyfsTer2)
| |
12 | g.5044974G>A | CA6399723 | KCNA5 | c.827G>A (p.Arg276Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044974G>C | CA383465239 | KCNA5 | c.827G>C (p.Arg276Thr)
| |
12 | g.5044974G= | CA2013430985 | KCNA5 | c.827G= (p.Arg276=)
| |
12 | g.5044974G>T | CA383465240 | KCNA5 | c.827G>T (p.Arg276Met)
| |
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)
| |
12 | g.5044988C>T | CA478095216 | KCNA5 | c.841C>T (p.Leu281=)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5044988_5044989delinsTA | CA645578787 | KCNA5 | c.841_842delinsTA (p.Leu281Ter)
| COSMIC |
12 | g.5044989T>A | CA383465271 | KCNA5 | c.842T>A (p.Leu281Gln)
| |
12 | g.5044989T>C | CA383465272 | KCNA5 | c.842T>C (p.Leu281Pro)
| |
12 | g.5044989T>G | CA383465273 | KCNA5 | c.842T>G (p.Leu281Arg)
| |
12 | g.5044990G>A | CA6399729 | KCNA5 | c.843G>A (p.Leu281=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.5044990G>C | CA478095218 | KCNA5 | c.843G>C (p.Leu281=)
| dbSNP gnomAD v2 |
12 | g.5044990G= | CA2013430995 | KCNA5 | c.843G= (p.Leu281=)
| |
12 | g.5044990G>T | CA231867974 | KCNA5 | c.843G>T (p.Leu281=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044991C>A | CA383465274 | KCNA5 | c.844C>A (p.Leu282Ile)
| |
12 | g.5044991C>G | CA383465275 | KCNA5 | c.844C>G (p.Leu282Val)
| |
12 | g.5044991C>T | CA383465276 | KCNA5 | c.844C>T (p.Leu282Phe)
| gnomAD v4 |
12 | g.5044992T>A | CA383465278 | KCNA5 | c.845T>A (p.Leu282His)
| |
12 | g.5044992T>C | CA383465279 | KCNA5 | c.845T>C (p.Leu282Pro)
| gnomAD v4 |
12 | g.5044992T>G | CA383465277 | KCNA5 | c.845T>G (p.Leu282Arg)
| |
12 | g.5044992T= | CA2013430996 | KCNA5 | c.845T= (p.Leu282=)
| |
12 | g.5044993C>A | CA478095225 | KCNA5 | c.846C>A (p.Leu282=)
| |
12 | g.5044993C= | CA2013430997 | KCNA5 | c.846C= (p.Leu282=)
| |
12 | g.5044993C>G | CA478095224 | KCNA5 | c.846C>G (p.Leu282=)
| |
12 | g.5044993C>T | CA478095223 | KCNA5 | c.846C>T (p.Leu282=)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5044994del | CA2617209906 | KCNA5 | c.847del (p.Arg283AlafsTer?)
| gnomAD v4 |
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.5044994C>A | CA383465280 | KCNA5 | c.847C>A (p.Arg283Ser)
| |
12 | g.5044994C= | CA2013430998 | KCNA5 | c.847C= (p.Arg283=)
| |
12 | g.5044994C>G | CA383465281 | KCNA5 | c.847C>G (p.Arg283Gly)
| |
12 | g.5044994C>T | CA10641639 | KCNA5 | c.847C>T (p.Arg283Cys)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.5044995G>A | CA6399731 | KCNA5 | c.848G>A (p.Arg283His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5044995G>C | CA383465282 | KCNA5 | c.848G>C (p.Arg283Pro)
| gnomAD v4 |
12 | g.5044995G= | CA2013431000 | KCNA5 | c.848G= (p.Arg283=)
| |
12 | g.5044995G>T | CA383465283 | KCNA5 | c.848G>T (p.Arg283Leu)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5044995_5045013delinsGCCACCCTCCGGCGCCCCA | CA2013430999 | KCNA5 | c.848_866delinsGCCACCCTCCGGCGCCCCA (p.Arg283=)
| |
12 | g.5044996C>A | CA478095230 | KCNA5 | c.849C>A (p.Arg283=)
| |
12 | g.5044996C= | CA2013431001 | KCNA5 | c.849C= (p.Arg283=)
| |
12 | g.5044996C>G | CA478095228 | KCNA5 | c.849C>G (p.Arg283=)
| |
12 | g.5044996C>T | CA478095229 | KCNA5 | c.849C>T (p.Arg283=)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5044999_5045016del | CA6399732 | KCNA5 | c.852_869del (p.His284_His289del)
| ClinVar dbSNP ExAC gnomAD v4 |
12 | g.5044997C>A | CA383465284 | KCNA5 | c.850C>A (p.His284Asn)
| |
12 | g.5044997C= | CA2013431002 | KCNA5 | c.850C= (p.His284=)
| |
12 | g.5044997C>G | CA383465285 | KCNA5 | c.850C>G (p.His284Asp)
| |
12 | g.5044997C>T | CA6399733 | KCNA5 | c.850C>T (p.His284Tyr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044998A>C | CA383465286 | KCNA5 | c.851A>C (p.His284Pro)
| |
12 | g.5044998A>G | CA383465287 | KCNA5 | c.851A>G (p.His284Arg)
| |
12 | g.5044998A>T | CA383465288 | KCNA5 | c.851A>T (p.His284Leu)
| |
12 | g.5044999C>A | CA383465290 | KCNA5 | c.852C>A (p.His284Gln)
| |
12 | g.5044999C= | CA2013431003 | KCNA5 | c.852C= (p.His284=)
| |
12 | g.5044999C>G | CA383465289 | KCNA5 | c.852C>G (p.His284Gln)
| |
12 | g.5044999C>T | CA6399734 | KCNA5 | c.852C>T (p.His284=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045000C>A | CA383465291 | KCNA5 | c.853C>A (p.Pro285Thr)
| |
12 | g.5045000C= | CA2013431004 | KCNA5 | c.853C= (p.Pro285=)
| |
12 | g.5045000C>G | CA383465292 | KCNA5 | c.853C>G (p.Pro285Ala)
| ClinVar dbSNP gnomAD v4 COSMIC |
12 | g.5045000C>T | CA383465293 | KCNA5 | c.853C>T (p.Pro285Ser)
| |
12 | g.5045001C>A | CA383465294 | KCNA5 | c.854C>A (p.Pro285His)
| gnomAD v4 |
12 | g.5045001C= | CA2013431005 | KCNA5 | c.854C= (p.Pro285=)
| |
12 | g.5045001C>G | CA383465295 | KCNA5 | c.854C>G (p.Pro285Arg)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5045001C>T | CA383465296 | KCNA5 | c.854C>T (p.Pro285Leu)
| |
12 | g.5045002T>A | CA478095236 | KCNA5 | c.855T>A (p.Pro285=)
| |
12 | g.5045002T>C | CA478095238 | KCNA5 | c.855T>C (p.Pro285=)
| |
12 | g.5045002T>G | CA478095237 | KCNA5 | c.855T>G (p.Pro285=)
| |
12 | g.5045003C>A | CA383465297 | KCNA5 | c.856C>A (p.Pro286Thr)
| |
12 | g.5045003C>G | CA383465298 | KCNA5 | c.856C>G (p.Pro286Ala)
| |
12 | g.5045003C>T | CA383465299 | KCNA5 | c.856C>T (p.Pro286Ser)
| |
12 | g.5045004C>A | CA383465300 | KCNA5 | c.857C>A (p.Pro286Gln)
| gnomAD v4 |
12 | g.5045004C= | CA2013431006 | KCNA5 | c.857C= (p.Pro286=)
| |
12 | g.5045004C>G | CA383465301 | KCNA5 | c.857C>G (p.Pro286Arg)
| |
12 | g.5045004C>T | CA6399735 | KCNA5 | c.857C>T (p.Pro286Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.5045005G>A | CA6399736 | KCNA5 | c.858G>A (p.Pro286=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045005G>C | CA478095241 | KCNA5 | c.858G>C (p.Pro286=)
| gnomAD v4 |
12 | g.5045005G= | CA2013431007 | KCNA5 | c.858G= (p.Pro286=)
| |
12 | g.5045005G>T | CA478095242 | KCNA5 | c.858G>T (p.Pro286=)
| |
12 | g.5045006G>A | CA383465303 | KCNA5 | c.859G>A (p.Ala287Thr)
| gnomAD v4 |
12 | g.5045006G>C | CA383465302 | KCNA5 | c.859G>C (p.Ala287Pro)
| |
12 | g.5045006G= | CA2013431008 | KCNA5 | c.859G= (p.Ala287=)
| |
12 | g.5045006G>T | CA6399737 | KCNA5 | c.859G>T (p.Ala287Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045006_5045007delinsGC | CA2013431009 | KCNA5 | c.859_860delinsGC (p.Ala287=)
| |
12 | g.5045006_5045007delinsTT | CA913190307 | KCNA5 | c.859_860delinsTT (p.Ala287Leu)
| ClinVar dbSNP |
12 | g.5045007C>A | CA383465304 | KCNA5 | c.860C>A (p.Ala287Glu)
| ClinVar gnomAD v4 |
12 | g.5045007C= | CA2013431010 | KCNA5 | c.860C= (p.Ala287=)
| |
12 | g.5045007C>G | CA383465305 | KCNA5 | c.860C>G (p.Ala287Gly)
| |
12 | g.5045007C>T | CA6399738 | KCNA5 | c.860C>T (p.Ala287Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
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.5045012del | CA2841912337 | KCNA5 | c.865del (p.His289ThrfsTer?)
| |
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.5045015_5045016insCCCCAAACACACCCAACAC | CA2794382109 | KCNA5 | c.868_869insCCCCAAACACACCCAACAC (p.Gln290ProfsTer?)
| |
12 | g.5045016_5045017insAACCAAACACACCCAACACA | CA2794382108 | KCNA5 | c.869_870insAACCAAACACACCCAACACA (p.Pro291ThrfsTer?)
| |
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=)
| |
12 | g.5045021C>G | CA383465333 | KCNA5 | c.874C>G (p.Pro292Ala)
| |
12 | g.5045021C>T | CA231868040 | KCNA5 | c.874C>T (p.Pro292Ser)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5045023del | CA2838851506 | KCNA5 | c.876del (p.Ala293ArgfsTer?)
| |
12 | g.5045022C>A | CA383465334 | KCNA5 | c.875C>A (p.Pro292His)
| |
12 | g.5045022C= | CA2013431017 | KCNA5 | c.875C= (p.Pro292=)
| |
12 | g.5045022C>G | CA383465335 | KCNA5 | c.875C>G (p.Pro292Arg)
| |
12 | g.5045022C>T | CA383465336 | KCNA5 | c.875C>T (p.Pro292Leu)
| dbSNP gnomAD v4 |
12 | g.5045023C>A | CA478095263 | KCNA5 | c.876C>A (p.Pro292=)
| gnomAD v4 |
12 | g.5045023C= | CA2013431018 | KCNA5 | c.876C= (p.Pro292=)
| |
12 | g.5045023C>G | CA478095264 | KCNA5 | c.876C>G (p.Pro292=)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5045023C>T | CA6399741 | KCNA5 | c.876C>T (p.Pro292=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045024G>A | CA231868047 | KCNA5 | c.877G>A (p.Ala293Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.5045024G>C | CA383465337 | KCNA5 | c.877G>C (p.Ala293Pro)
| |
12 | g.5045024G= | CA2013431019 | KCNA5 | c.877G= (p.Ala293=)
| |
12 | g.5045024G>T | CA383465338 | KCNA5 | c.877G>T (p.Ala293Ser)
| |
12 | g.5045025C>A | CA383465339 | KCNA5 | c.878C>A (p.Ala293Glu)
| |
12 | g.5045025C>G | CA383465340 | KCNA5 | c.878C>G (p.Ala293Gly)
| |
12 | g.5045025C>T | CA383465341 | KCNA5 | c.878C>T (p.Ala293Val)
| COSMIC |
12 | g.5045026G>A | CA478095268 | KCNA5 | c.879G>A (p.Ala293=)
| dbSNP gnomAD v4 |
12 | g.5045026G>C | CA478095270 | KCNA5 | c.879G>C (p.Ala293=)
| |
12 | g.5045026G= | CA2013431020 | KCNA5 | c.879G= (p.Ala293=)
| |
12 | g.5045026G>T | CA478095269 | KCNA5 | c.879G>T (p.Ala293=)
| ClinVar dbSNP gnomAD v2 |
12 | g.5045027C>A | CA383465344 | KCNA5 | c.880C>A (p.Pro294Thr)
| |
12 | g.5045027C= | CA2013431021 | KCNA5 | c.880C= (p.Pro294=)
| |
12 | g.5045027C>G | CA383465343 | KCNA5 | c.880C>G (p.Pro294Ala)
| |
12 | g.5045027C>T | CA383465342 | KCNA5 | c.880C>T (p.Pro294Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045028C>A | CA383465345 | KCNA5 | c.881C>A (p.Pro294His)
| |
12 | g.5045028C>G | CA383465346 | KCNA5 | c.881C>G (p.Pro294Arg)
| |
12 | g.5045028C>T | CA383465347 | KCNA5 | c.881C>T (p.Pro294Leu)
| gnomAD v4 |
12 | g.5045029C>A | CA6399742 | KCNA5 | c.882C>A (p.Pro294=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045029C= | CA2013431022 | KCNA5 | c.882C= (p.Pro294=)
| |
12 | g.5045029C>G | CA478095273 | KCNA5 | c.882C>G (p.Pro294=)
| gnomAD v4 |
12 | g.5045029C>T | CA478095274 | KCNA5 | c.882C>T (p.Pro294=)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045030G>A | CA383465348 | KCNA5 | c.883G>A (p.Ala295Thr)
| gnomAD v4 COSMIC |
12 | g.5045030G>C | CA383465349 | KCNA5 | c.883G>C (p.Ala295Pro)
| |
12 | g.5045030G>T | CA383465350 | KCNA5 | c.883G>T (p.Ala295Ser)
| ClinVar gnomAD v4 COSMIC |
12 | g.5045031C>A | CA231868055 | KCNA5 | c.884C>A (p.Ala295Asp)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045031C= | CA2013431023 | KCNA5 | c.884C= (p.Ala295=)
| |
12 | g.5045031C>G | CA383465351 | KCNA5 | c.884C>G (p.Ala295Gly)
| |
12 | g.5045031C>T | CA383465352 | KCNA5 | c.884C>T (p.Ala295Val)
| gnomAD v4 |
12 | g.5045034dup | CA2841912338 | KCNA5 | c.887dup (p.Gly297TrpfsTer?)
| |
12 | g.5045032C>A | CA478095276 | KCNA5 | c.885C>A (p.Ala295=)
| |
12 | g.5045032C= | CA2013431024 | KCNA5 | c.885C= (p.Ala295=)
| |
12 | g.5045032C>G | CA478095277 | KCNA5 | c.885C>G (p.Ala295=)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045032C>T | CA6399743 | KCNA5 | c.885C>T (p.Ala295=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045033C>A | CA383465353 | KCNA5 | c.886C>A (p.Pro296Thr)
| |
12 | g.5045033C= | CA2013431025 | KCNA5 | c.886C= (p.Pro296=)
| |
12 | g.5045033C>G | CA383465354 | KCNA5 | c.886C>G (p.Pro296Ala)
| |
12 | g.5045033C>T | CA383465355 | KCNA5 | c.886C>T (p.Pro296Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045034C>A | CA383465357 | KCNA5 | c.887C>A (p.Pro296His)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045034C= | CA2013431026 | KCNA5 | c.887C= (p.Pro296=)
| |
12 | g.5045034C>G | CA383465358 | KCNA5 | c.887C>G (p.Pro296Arg)
| |
12 | g.5045034C>T | CA383465356 | KCNA5 | c.887C>T (p.Pro296Leu)
| gnomAD v4 |
12 | g.5045035del | CA2697559074 | KCNA5 | c.888del (p.Ala298ProfsTer?)
| ClinVar |
12 | g.5045035T>A | CA478095278 | KCNA5 | c.888T>A (p.Pro296=)
| |
12 | g.5045035T>C | CA478095279 | KCNA5 | c.888T>C (p.Pro296=)
| |
12 | g.5045035T>G | CA478095280 | KCNA5 | c.888T>G (p.Pro296=)
| |
12 | g.5045036G>A | CA383465359 | KCNA5 | c.889G>A (p.Gly297Arg)
| gnomAD v4 |
12 | g.5045036G>C | CA383465360 | KCNA5 | c.889G>C (p.Gly297Arg)
| |
12 | g.5045036G>T | CA383465361 | KCNA5 | c.889G>T (p.Gly297Trp)
| |
12 | g.5045037G>A | CA6399744 | KCNA5 | c.890G>A (p.Gly297Glu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045037G>C | CA383465362 | KCNA5 | c.890G>C (p.Gly297Ala)
| |
12 | g.5045037G= | CA2013431027 | KCNA5 | c.890G= (p.Gly297=)
| |
12 | g.5045037G>T | CA383465363 | KCNA5 | c.890G>T (p.Gly297Val)
| |
12 | g.5045038G>A | CA478095281 | KCNA5 | c.891G>A (p.Gly297=)
| dbSNP |
12 | g.5045038G>C | CA478095282 | KCNA5 | c.891G>C (p.Gly297=)
| |
12 | g.5045038G= | CA2013431028 | KCNA5 | c.891G= (p.Gly297=)
| |
12 | g.5045038G>T | CA478095283 | KCNA5 | c.891G>T (p.Gly297=)
| gnomAD v4 |
12 | g.5045039G>A | CA383465364 | KCNA5 | c.892G>A (p.Ala298Thr)
| |
12 | g.5045039G>C | CA383465365 | KCNA5 | c.892G>C (p.Ala298Pro)
| |
12 | g.5045039G>T | CA383465366 | KCNA5 | c.892G>T (p.Ala298Ser)
| |
12 | g.5045040C>A | CA383465367 | KCNA5 | c.893C>A (p.Ala298Asp)
| |
12 | g.5045040C>G | CA383465368 | KCNA5 | c.893C>G (p.Ala298Gly)
| |
12 | g.5045040C>T | CA383465369 | KCNA5 | c.893C>T (p.Ala298Val)
| |
12 | g.5045041C>A | CA478095284 | KCNA5 | c.894C>A (p.Ala298=)
| |
12 | g.5045041C>G | CA478095286 | KCNA5 | c.894C>G (p.Ala298=)
| |
12 | g.5045041C>T | CA478095285 | KCNA5 | c.894C>T (p.Ala298=)
| |
12 | g.5045042A>C | CA383465372 | KCNA5 | c.895A>C (p.Asn299His)
| |
12 | g.5045042A>G | CA383465370 | KCNA5 | c.895A>G (p.Asn299Asp)
| |
12 | g.5045042A>T | CA383465371 | KCNA5 | c.895A>T (p.Asn299Tyr)
| gnomAD v4 |
12 | g.5045043dup | CA2841912339 | KCNA5 | c.896dup (p.Asn299LysfsTer?)
| |
12 | g.5045043A>C | CA383465373 | KCNA5 | c.896A>C (p.Asn299Thr)
| |
12 | g.5045043A>G | CA383465374 | KCNA5 | c.896A>G (p.Asn299Ser)
| |
12 | g.5045043A>T | CA383465375 | KCNA5 | c.896A>T (p.Asn299Ile)
| |
12 | g.5045044C>A | CA383465376 | KCNA5 | c.897C>A (p.Asn299Lys)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045044C= | CA2013431029 | KCNA5 | c.897C= (p.Asn299=)
| |
12 | g.5045044C>G | CA6399746 | KCNA5 | c.897C>G (p.Asn299Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045044C>T | CA6399745 | KCNA5 | c.897C>T (p.Asn299=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.5045047_5045052dup | CA2617209907 | KCNA5 | c.900_905dup (p.Gly302_Val303insSerGly)
| gnomAD v4 |
12 | g.5045045G>A | CA236719 | KCNA5 | c.898G>A (p.Gly300Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.5045045G>C | CA6399747 | KCNA5 | c.898G>C (p.Gly300Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045045G= | CA2013431030 | KCNA5 | c.898G= (p.Gly300=)
| |
12 | g.5045045G>T | CA383465377 | KCNA5 | c.898G>T (p.Gly300Cys)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045046G>A | CA6399748 | KCNA5 | c.899G>A (p.Gly300Asp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045046G>C | CA383465378 | KCNA5 | c.899G>C (p.Gly300Ala)
| |
12 | g.5045046G= | CA2013431032 | KCNA5 | c.899G= (p.Gly300=)
| |
12 | g.5045046G>T | CA383465379 | KCNA5 | c.899G>T (p.Gly300Val)
| |
12 | g.5045048_5045050dup | CA2013431031 | KCNA5 | c.901_903dup (p.Ser301_Gly302insSer)
| dbSNP |
12 | g.5045047C>A | CA478095289 | KCNA5 | c.900C>A (p.Gly300=)
| |
12 | g.5045047C= | CA2013431033 | KCNA5 | c.900C= (p.Gly300=)
| |
12 | g.5045047C>G | CA478095288 | KCNA5 | c.900C>G (p.Gly300=)
| |
12 | g.5045047C>T | CA478095287 | KCNA5 | c.900C>T (p.Gly300=)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045048A>C | CA383465381 | KCNA5 | c.901A>C (p.Ser301Arg)
| |
12 | g.5045048A>G | CA383465382 | KCNA5 | c.901A>G (p.Ser301Gly)
| |
12 | g.5045048A>T | CA383465380 | KCNA5 | c.901A>T (p.Ser301Cys)
| |
12 | g.5045049G>A | CA383465384 | KCNA5 | c.902G>A (p.Ser301Asn)
| |
12 | g.5045049G>C | CA383465383 | KCNA5 | c.902G>C (p.Ser301Thr)
| |
12 | g.5045049G>T | CA383465385 | KCNA5 | c.902G>T (p.Ser301Ile)
| |
12 | g.5045050C>A | CA383465386 | KCNA5 | c.903C>A (p.Ser301Arg)
| |
12 | g.5045050C= | CA2013431034 | KCNA5 | c.903C= (p.Ser301=)
| |
12 | g.5045050C>G | CA6399749 | KCNA5 | c.903C>G (p.Ser301Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045050C>T | CA6399750 | KCNA5 | c.903C>T (p.Ser301=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045051G>A | CA6399752 | KCNA5 | c.904G>A (p.Gly302Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045051G>C | CA6399751 | KCNA5 | c.904G>C (p.Gly302Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045051G= | CA2013431036 | KCNA5 | c.904G= (p.Gly302=)
| |
12 | g.5045051G>T | CA383465387 | KCNA5 | c.904G>T (p.Gly302Trp)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045051_5045052delinsCA | CA916083285 | KCNA5 | c.904_905delinsCA (p.Gly302Gln)
| ClinVar dbSNP |
12 | g.5045051_5045052delinsGG | CA2013431035 | KCNA5 | c.904_905delinsGG (p.Gly302=)
| |
12 | g.5045052G>A | CA383465388 | KCNA5 | c.905G>A (p.Gly302Glu)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
12 | g.5045052G>C | CA383465389 | KCNA5 | c.905G>C (p.Gly302Ala)
| |
12 | g.5045052G= | CA2013431037 | KCNA5 | c.905G= (p.Gly302=)
| |
12 | g.5045052G>T | CA383465390 | KCNA5 | c.905G>T (p.Gly302Val)
| |