| 5 | g.71719236_71719263delinsGGGCTCACTATAAAAGGTGGGAGCGCGT | CA1554416230 | CARTPT | c.-58_-31delinsGGGCTCACTATAAAAGGTGGGAGCGCGT (n.-58_-31delinsGGGCTCACTATAAAAGGTGGGAGCGCGT)
| |
| 5 | g.71719239_71719265del | CA1077368978 | CARTPT | c.-55_-29del (n.-55_-29del)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.71719250del | CA2534690525 | CARTPT | c.-44del (n.-44del)
| gnomAD v4 |
| 5 | g.71719248A= | CA1554416248 | CARTPT | c.-46A= (n.-46A=)
| |
| 5 | g.71719248A>G | CA3298249 | CARTPT | c.-46A>G (n.-46A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.71719249A= | CA1554416250 | CARTPT | c.-45A= (n.-45A=)
| |
| 5 | g.71719249A>C | CA813669952 | CARTPT | c.-45A>C (n.-45A>C)
| dbSNP |
| 5 | g.71719250A>T | CA2766960267 | CARTPT | c.-44A>T (n.-44A>T)
| |
| 5 | g.71719251G>T | CA2674169214 | CARTPT | c.-43G>T (n.-43G>T)
| gnomAD v4 |
| 5 | g.71719252G>A | CA2578331711 | CARTPT | c.-42G>A (n.-42G>A)
| |
| 5 | g.71719252G>C | CA1554416253 | CARTPT | c.-42G>C (n.-42G>C)
| dbSNP gnomAD v4 |
| 5 | g.71719252G= | CA1554416252 | CARTPT | c.-42G= (n.-42G=)
| |
| 5 | g.71719252G>T | CA813669955 | CARTPT | c.-42G>T (n.-42G>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.71719253T>C | CA2674169215 | CARTPT | c.-41T>C (n.-41T>C)
| gnomAD v4 |
| 5 | g.71719254G>T | CA2674169216 | CARTPT | c.-40G>T (n.-40G>T)
| gnomAD v4 |
| 5 | g.71719256G>A | CA2674169217 | CARTPT | c.-38G>A (n.-38G>A)
| gnomAD v4 |
| 5 | g.71719256G>T | CA2674169218 | CARTPT | c.-38G>T (n.-38G>T)
| gnomAD v4 |
| 5 | g.71719257A>G | CA2674169219 | CARTPT | c.-37A>G (n.-37A>G)
| gnomAD v4 |
| 5 | g.71719257A>T | CA649636248 | CARTPT | c.-37A>T (n.-37A>T)
| COSMIC |
| 5 | g.71719258G>T | CA2674169220 | CARTPT | c.-36G>T (n.-36G>T)
| gnomAD v4 |
| 5 | g.71719259C>A | CA560375484 | CARTPT | c.-35C>A (n.-35C>A)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.71719259C= | CA1554416258 | CARTPT | c.-35C= (n.-35C=)
| |
| 5 | g.71719259C>G | CA560375485 | CARTPT | c.-35C>G (n.-35C>G)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.71719259C>T | CA2674169221 | CARTPT | c.-35C>T (n.-35C>T)
| gnomAD v4 |
| 5 | g.71719260G>A | CA560375486 | CARTPT | c.-34G>A (n.-34G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.71719260G>C | CA1554416268 | CARTPT | c.-34G>C (n.-34G>C)
| dbSNP gnomAD v4 |
| 5 | g.71719260G= | CA1554416266 | CARTPT | c.-34G= (n.-34G=)
| |
| 5 | g.71719260G>T | CA2674169222 | CARTPT | c.-34G>T (n.-34G>T)
| gnomAD v4 |
| 5 | g.71719261C>A | CA2674169223 | CARTPT | c.-33C>A (n.-33C>A)
| gnomAD v4 |
| 5 | g.71719261C>T | CA2674169224 | CARTPT | c.-33C>T (n.-33C>T)
| gnomAD v4 |
| 5 | g.71719262G>A | CA2674169225 | CARTPT | c.-32G>A (n.-32G>A)
| gnomAD v4 |
| 5 | g.71719262G= | CA1554416271 | CARTPT | c.-32G= (n.-32G=)
| |
| 5 | g.71719262G>T | CA560375487 | CARTPT | c.-32G>T (n.-32G>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.71719264G>T | CA2674169226 | CARTPT | c.-30G>T (n.-30G>T)
| gnomAD v4 |
| 5 | g.71719265G>T | CA2578331712 | CARTPT | c.-29G>T (n.-29G>T)
| gnomAD v4 |
| 5 | g.71719266T>C | CA2674169227 | CARTPT | c.-28T>C (n.-28T>C)
| gnomAD v4 |
| 5 | g.71719267G>A | CA2674169228 | CARTPT | c.-27G>A (n.-27G>A)
| gnomAD v4 |
| 5 | g.71719267G>T | CA2674169229 | CARTPT | c.-27G>T (n.-27G>T)
| gnomAD v4 |
| 5 | g.71719268C>G | CA2674169230 | CARTPT | c.-26C>G (n.-26C>G)
| gnomAD v4 |
| 5 | g.71719268C>T | CA2766960268 | CARTPT | c.-26C>T (n.-26C>T)
| |
| 5 | g.71719271del | CA2578331713 | CARTPT | c.-23del (n.-23del)
| gnomAD v4 |
| 5 | g.71719269C>T | CA2674169231 | CARTPT | c.-25C>T (n.-25C>T)
| gnomAD v4 |
| 5 | g.71719270C>A | CA2578331714 | CARTPT | c.-24C>A (n.-24C>A)
| |
| 5 | g.71719270C= | CA1554416276 | CARTPT | c.-24C= (n.-24C=)
| |
| 5 | g.71719270C>T | CA3298250 | CARTPT | c.-24C>T (n.-24C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.71719271C>A | CA560375488 | CARTPT | c.-23C>A (n.-23C>A)
| dbSNP gnomAD v2 |
| 5 | g.71719271C= | CA1554416282 | CARTPT | c.-23C= (n.-23C=)
| |
| 5 | g.71719272A>G | CA2578331715 | CARTPT | c.-22A>G (n.-22A>G)
| |
| 5 | g.71719274C>A | CA1077368990 | CARTPT | c.-20C>A (n.-20C>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.71719274C= | CA1554416285 | CARTPT | c.-20C= (n.-20C=)
| |
| 5 | g.71719274C>G | CA3298251 | CARTPT | c.-20C>G (n.-20C>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.71719275_71719278delinsAACG | CA1554416292 | CARTPT | c.-19_-16delinsAACG (n.-19_-16delinsAACG)
| |
| 5 | g.71719276A= | CA1554416296 | CARTPT | c.-18A= (n.-18A=)
| |
| 5 | g.71719276A>G | CA560375489 | CARTPT | c.-18A>G (n.-18A>G)
| dbSNP gnomAD v2 |
| 5 | g.71719280_71719282del | CA1554416297 | CARTPT | c.-14_-12del (n.-14_-12del)
| dbSNP |
| 5 | g.71719277C>A | CA3298252 | CARTPT | c.-17C>A (n.-17C>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.71719277C= | CA1554416299 | CARTPT | c.-17C= (n.-17C=)
| |
| 5 | g.71719278G>A | CA813669973 | CARTPT | c.-16G>A (n.-16G>A)
| dbSNP gnomAD v4 |
| 5 | g.71719278G>C | CA3298253 | CARTPT | c.-16G>C (n.-16G>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.71719278G= | CA1554416303 | CARTPT | c.-16G= (n.-16G=)
| |
| 5 | g.71719278G>T | CA2674169232 | CARTPT | c.-16G>T (n.-16G>T)
| gnomAD v4 |
| 5 | g.71719279A= | CA1554416306 | CARTPT | c.-15A= (n.-15A=)
| |
| 5 | g.71719279A>G | CA813669975 | CARTPT | c.-15A>G (n.-15A>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.71719280C>A | CA2674169233 | CARTPT | c.-14C>A (n.-14C>A)
| gnomAD v4 |
| 5 | g.71719280C= | CA1554416310 | CARTPT | c.-14C= (n.-14C=)
| |
| 5 | g.71719280C>T | CA560375490 | CARTPT | c.-14C>T (n.-14C>T)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.71719281G>A | CA560375491 | CARTPT | c.-13G>A (n.-13G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.71719281G= | CA1554416313 | CARTPT | c.-13G= (n.-13G=)
| |
| 5 | g.71719281G>T | CA2674169234 | CARTPT | c.-13G>T (n.-13G>T)
| gnomAD v4 |
| 5 | g.71719282A= | CA1554416316 | CARTPT | c.-12A= (n.-12A=)
| |
| 5 | g.71719282A>G | CA2674169235 | CARTPT | c.-12A>G (n.-12A>G)
| gnomAD v4 |
| 5 | g.71719282A>T | CA3298254 | CARTPT | c.-12A>T (n.-12A>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.71719283G>A | CA560375492 | CARTPT | c.-11G>A (n.-11G>A)
| dbSNP gnomAD v2 |
| 5 | g.71719283G= | CA1554416320 | CARTPT | c.-11G= (n.-11G=)
| |
| 5 | g.71719283G>T | CA2766960269 | CARTPT | c.-11G>T (n.-11G>T)
| |
| 5 | g.71719286T>C | CA2674169236 | CARTPT | c.-8T>C (n.-8T>C)
| gnomAD v4 |
| 5 | g.71719287C>T | CA2578331716 | CARTPT | c.-7C>T (n.-7C>T)
| |
| 5 | g.71719289G>A | CA2674169237 | CARTPT | c.-5G>A (n.-5G>A)
| gnomAD v4 |
| 5 | g.71719289G>T | CA2674169238 | CARTPT | c.-5G>T (n.-5G>T)
| gnomAD v4 |
| 5 | g.71719291dup | CA649636252 | CARTPT | c.-3dup (n.-3dup)
| COSMIC |
| 5 | g.71719292C>G | CA2578331717 | CARTPT | c.-2C>G (n.-2C>G)
| gnomAD v4 |
| 5 | g.71719292C>T | CA2674169239 | CARTPT | c.-2C>T (n.-2C>T)
| gnomAD v4 |
| 5 | g.71719293G>A | CA2599194399 | CARTPT | c.-1G>A (n.-1G>A)
| gnomAD v3 gnomAD v4 |
| 5 | g.71719293G>C | CA120740051 | CARTPT | c.-1G>C (n.-1G>C)
| dbSNP gnomAD v4 |
| 5 | g.71719293G= | CA1554416323 | CARTPT | c.-1G= (n.-1G=)
| |
| 5 | g.71719293G>T | CA2674169240 | CARTPT | c.-1G>T (n.-1G>T)
| gnomAD v4 |
| 5 | g.71719294A= | CA1554416328 | CARTPT | c.1A= (p.Met1=)
| |
| 5 | g.71719294A>C | CA360104171 | CARTPT | c.1A>C (p.Met1Leu)
| |
| 5 | g.71719294A>G | CA3298255 | CARTPT | c.1A>G (p.Met1Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.71719294A>T | CA360104172 | CARTPT | c.1A>T (p.Met1Leu)
| dbSNP |
| 5 | g.71719295T>A | CA360104175 | CARTPT | c.2T>A (p.Met1Lys)
| |
| 5 | g.71719295T>C | CA360104174 | CARTPT | c.2T>C (p.Met1Thr)
| |
| 5 | g.71719295T>G | CA360104173 | CARTPT | c.2T>G (p.Met1Arg)
| |
| 5 | g.71719296G>A | CA360104176 | CARTPT | c.3G>A (p.Met1Ile)
| COSMIC |
| 5 | g.71719296G>C | CA360104177 | CARTPT | c.3G>C (p.Met1Ile)
| |
| 5 | g.71719296G>T | CA360104178 | CARTPT | c.3G>T (p.Met1Ile)
| |
| 5 | g.71719297G>A | CA360104179 | CARTPT | c.4G>A (p.Glu2Lys)
| |
| 5 | g.71719297G>C | CA360104180 | CARTPT | c.4G>C (p.Glu2Gln)
| |
| 5 | g.71719297G>T | CA360104181 | CARTPT | c.4G>T (p.Glu2Ter)
| |
| 5 | g.71719298A>C | CA360104184 | CARTPT | c.5A>C (p.Glu2Ala)
| |
| 5 | g.71719298A>G | CA360104182 | CARTPT | c.5A>G (p.Glu2Gly)
| |
| 5 | g.71719298A>T | CA360104183 | CARTPT | c.5A>T (p.Glu2Val)
| gnomAD v4 |
| 5 | g.71719299G>A | CA445021216 | CARTPT | c.6G>A (p.Glu2=)
| gnomAD v4 |
| 5 | g.71719299G>C | CA360104185 | CARTPT | c.6G>C (p.Glu2Asp)
| |
| 5 | g.71719299G>T | CA360104186 | CARTPT | c.6G>T (p.Glu2Asp)
| |
| 5 | g.71719300A= | CA1554416334 | CARTPT | c.7A= (p.Ser3=)
| |
| 5 | g.71719300A>C | CA360104187 | CARTPT | c.7A>C (p.Ser3Arg)
| |
| 5 | g.71719300A>G | CA3298256 | CARTPT | c.7A>G (p.Ser3Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.71719300A>T | CA360104188 | CARTPT | c.7A>T (p.Ser3Cys)
| |
| 5 | g.71719301G>A | CA360104189 | CARTPT | c.8G>A (p.Ser3Asn)
| |
| 5 | g.71719301G>C | CA360104190 | CARTPT | c.8G>C (p.Ser3Thr)
| |
| 5 | g.71719301G= | CA1554416339 | CARTPT | c.8G= (p.Ser3=)
| |
| 5 | g.71719301G>T | CA360104191 | CARTPT | c.8G>T (p.Ser3Ile)
| dbSNP gnomAD v4 COSMIC |
| 5 | g.71719302C>A | CA360104192 | CARTPT | c.9C>A (p.Ser3Arg)
| gnomAD v4 |
| 5 | g.71719302C>G | CA360104193 | CARTPT | c.9C>G (p.Ser3Arg)
| |
| 5 | g.71719302C>T | CA445021217 | CARTPT | c.9C>T (p.Ser3=)
| |
| 5 | g.71719303T>A | CA360104194 | CARTPT | c.10T>A (p.Ser4Thr)
| |
| 5 | g.71719303T>C | CA360104195 | CARTPT | c.10T>C (p.Ser4Pro)
| |
| 5 | g.71719303T>G | CA360104196 | CARTPT | c.10T>G (p.Ser4Ala)
| |
| 5 | g.71719304C>A | CA360104197 | CARTPT | c.11C>A (p.Ser4Tyr)
| |
| 5 | g.71719304C>G | CA360104199 | CARTPT | c.11C>G (p.Ser4Cys)
| |
| 5 | g.71719304C>T | CA360104198 | CARTPT | c.11C>T (p.Ser4Phe)
| |
| 5 | g.71719305C>A | CA445021218 | CARTPT | c.12C>A (p.Ser4=)
| |
| 5 | g.71719305C= | CA1554416341 | CARTPT | c.12C= (p.Ser4=)
| |
| 5 | g.71719305C>G | CA445021219 | CARTPT | c.12C>G (p.Ser4=)
| |
| 5 | g.71719305C>T | CA445021220 | CARTPT | c.12C>T (p.Ser4=)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.71719306C>A | CA360104200 | CARTPT | c.13C>A (p.Arg5Ser)
| |
| 5 | g.71719306C= | CA1554416345 | CARTPT | c.13C= (p.Arg5=)
| |
| 5 | g.71719306C>G | CA360104201 | CARTPT | c.13C>G (p.Arg5Gly)
| gnomAD v4 |
| 5 | g.71719306C>T | CA360104202 | CARTPT | c.13C>T (p.Arg5Cys)
| dbSNP gnomAD v4 |
| 5 | g.71719307G>A | CA3298257 | CARTPT | c.14G>A (p.Arg5His)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.71719307G>C | CA360104203 | CARTPT | c.14G>C (p.Arg5Pro)
| |
| 5 | g.71719307G= | CA1554416348 | CARTPT | c.14G= (p.Arg5=)
| |
| 5 | g.71719307G>T | CA360104204 | CARTPT | c.14G>T (p.Arg5Leu)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.71719308C>A | CA445021221 | CARTPT | c.15C>A (p.Arg5=)
| |
| 5 | g.71719308C>G | CA445021222 | CARTPT | c.15C>G (p.Arg5=)
| gnomAD v4 |
| 5 | g.71719308C>T | CA445021223 | CARTPT | c.15C>T (p.Arg5=)
| gnomAD v4 |
| 5 | g.71719309G>A | CA360104207 | CARTPT | c.16G>A (p.Val6Met)
| |
| 5 | g.71719309G>C | CA360104205 | CARTPT | c.16G>C (p.Val6Leu)
| gnomAD v4 |
| 5 | g.71719309G>T | CA360104206 | CARTPT | c.16G>T (p.Val6Leu)
| gnomAD v4 |
| 5 | g.71719310T>A | CA360104208 | CARTPT | c.17T>A (p.Val6Glu)
| |
| 5 | g.71719310T>C | CA360104209 | CARTPT | c.17T>C (p.Val6Ala)
| |
| 5 | g.71719310T>G | CA360104210 | CARTPT | c.17T>G (p.Val6Gly)
| |
| 5 | g.71719311G>A | CA445021224 | CARTPT | c.18G>A (p.Val6=)
| gnomAD v4 |
| 5 | g.71719311G>C | CA445021225 | CARTPT | c.18G>C (p.Val6=)
| |
| 5 | g.71719311G>T | CA445021226 | CARTPT | c.18G>T (p.Val6=)
| |
| 5 | g.71719312A= | CA1554416351 | CARTPT | c.19A= (p.Arg7=)
| |
| 5 | g.71719312A>C | CA445021227 | CARTPT | c.19A>C (p.Arg7=)
| |
| 5 | g.71719312A>G | CA360104211 | CARTPT | c.19A>G (p.Arg7Gly)
| |
| 5 | g.71719312A>T | CA360104212 | CARTPT | c.19A>T (p.Arg7Trp)
| dbSNP |
| 5 | g.71719313G>A | CA360104213 | CARTPT | c.20G>A (p.Arg7Lys)
| gnomAD v4 |
| 5 | g.71719313G>C | CA360104215 | CARTPT | c.20G>C (p.Arg7Thr)
| dbSNP gnomAD v4 |
| 5 | g.71719313G= | CA1554416355 | CARTPT | c.20G= (p.Arg7=)
| |
| 5 | g.71719313G>T | CA360104214 | CARTPT | c.20G>T (p.Arg7Met)
| gnomAD v4 |
| 5 | g.71719313_71719340delinsGGCTGCTGCCCCTCCTGGGCGCCGCCCT | CA1554416357 | CARTPT | c.20_47delinsGGCTGCTGCCCCTCCTGGGCGCCGCCCT (p.Arg7=)
| |
| 5 | g.71719314G>A | CA445021228 | CARTPT | c.21G>A (p.Arg7=)
| |
| 5 | g.71719314G>C | CA360104216 | CARTPT | c.21G>C (p.Arg7Ser)
| |
| 5 | g.71719314G>T | CA360104217 | CARTPT | c.21G>T (p.Arg7Ser)
| gnomAD v4 |
| 5 | g.71719321_71719347del | CA3298258 | CARTPT | c.28_54del (p.Pro10_Leu18del)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.71719315C>A | CA360104218 | CARTPT | c.22C>A (p.Leu8Met)
| |
| 5 | g.71719315C= | CA1554416366 | CARTPT | c.22C= (p.Leu8=)
| |
| 5 | g.71719315C>G | CA360104219 | CARTPT | c.22C>G (p.Leu8Val)
| |
| 5 | g.71719315C>T | CA445021229 | CARTPT | c.22C>T (p.Leu8=)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.71719316T>A | CA360104220 | CARTPT | c.23T>A (p.Leu8Gln)
| |
| 5 | g.71719316T>C | CA360104221 | CARTPT | c.23T>C (p.Leu8Pro)
| |
| 5 | g.71719316T>G | CA360104222 | CARTPT | c.23T>G (p.Leu8Arg)
| |
| 5 | g.71719317G>A | CA445021230 | CARTPT | c.24G>A (p.Leu8=)
| gnomAD v4 |
| 5 | g.71719317G>C | CA445021231 | CARTPT | c.24G>C (p.Leu8=)
| |
| 5 | g.71719317G>T | CA445021232 | CARTPT | c.24G>T (p.Leu8=)
| |
| 5 | g.71719318C>A | CA360104223 | CARTPT | c.25C>A (p.Leu9Met)
| gnomAD v4 |
| 5 | g.71719318C>G | CA360104224 | CARTPT | c.25C>G (p.Leu9Val)
| |
| 5 | g.71719318C>T | CA445021233 | CARTPT | c.25C>T (p.Leu9=)
| |
| 5 | g.71719319T>A | CA360104225 | CARTPT | c.26T>A (p.Leu9Gln)
| |
| 5 | g.71719319T>C | CA360104227 | CARTPT | c.26T>C (p.Leu9Pro)
| gnomAD v4 |
| 5 | g.71719319T>G | CA360104226 | CARTPT | c.26T>G (p.Leu9Arg)
| |
| 5 | g.71719320G>A | CA3298259 | CARTPT | c.27G>A (p.Leu9=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.71719320G>C | CA445021234 | CARTPT | c.27G>C (p.Leu9=)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.71719320G= | CA1554416372 | CARTPT | c.27G= (p.Leu9=)
| |
| 5 | g.71719320G>T | CA445021235 | CARTPT | c.27G>T (p.Leu9=)
| |
| 5 | g.71719321C>A | CA360104229 | CARTPT | c.28C>A (p.Pro10Thr)
| gnomAD v4 |
| 5 | g.71719321C= | CA1554416378 | CARTPT | c.28C= (p.Pro10=)
| |
| 5 | g.71719321C>G | CA360104228 | CARTPT | c.28C>G (p.Pro10Ala)
| |
| 5 | g.71719321C>T | CA3298260 | CARTPT | c.28C>T (p.Pro10Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.71719322C>A | CA360104230 | CARTPT | c.29C>A (p.Pro10His)
| COSMIC |
| 5 | g.71719322C= | CA1554416385 | CARTPT | c.29C= (p.Pro10=)
| |
| 5 | g.71719322C>G | CA360104231 | CARTPT | c.29C>G (p.Pro10Arg)
| |
| 5 | g.71719322C>T | CA360104232 | CARTPT | c.29C>T (p.Pro10Leu)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.71719323C>A | CA445021237 | CARTPT | c.30C>A (p.Pro10=)
| |
| 5 | g.71719323C= | CA1554416389 | CARTPT | c.30C= (p.Pro10=)
| |
| 5 | g.71719323C>G | CA445021238 | CARTPT | c.30C>G (p.Pro10=)
| |
| 5 | g.71719323C>T | CA445021236 | CARTPT | c.30C>T (p.Pro10=)
| dbSNP gnomAD v4 |
| 5 | g.71719324C>A | CA3298262 | CARTPT | c.31C>A (p.Leu11Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.71719324C= | CA1554416396 | CARTPT | c.31C= (p.Leu11=)
| |
| 5 | g.71719324C>G | CA360104233 | CARTPT | c.31C>G (p.Leu11Val)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.71719324C>T | CA3298261 | CARTPT | c.31C>T (p.Leu11Phe)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.71719325T>A | CA360104234 | CARTPT | c.32T>A (p.Leu11His)
| |
| 5 | g.71719325T>C | CA360104235 | CARTPT | c.32T>C (p.Leu11Pro)
| |
| 5 | g.71719325T>G | CA360104236 | CARTPT | c.32T>G (p.Leu11Arg)
| |
| 5 | g.71719326C>A | CA445021241 | CARTPT | c.33C>A (p.Leu11=)
| |
| 5 | g.71719326C>G | CA445021240 | CARTPT | c.33C>G (p.Leu11=)
| |
| 5 | g.71719326C>T | CA445021239 | CARTPT | c.33C>T (p.Leu11=)
| |
| 5 | g.71719327C>A | CA360104237 | CARTPT | c.34C>A (p.Leu12Met)
| |
| 5 | g.71719327C>G | CA360104238 | CARTPT | c.34C>G (p.Leu12Val)
| |
| 5 | g.71719327C>T | CA445021242 | CARTPT | c.34C>T (p.Leu12=)
| |
| 5 | g.71719328T>A | CA360104239 | CARTPT | c.35T>A (p.Leu12Gln)
| |
| 5 | g.71719328T>C | CA360104241 | CARTPT | c.35T>C (p.Leu12Pro)
| |
| 5 | g.71719328T>G | CA360104240 | CARTPT | c.35T>G (p.Leu12Arg)
| |
| 5 | g.71719329G>A | CA445021245 | CARTPT | c.36G>A (p.Leu12=)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.71719329G>C | CA445021243 | CARTPT | c.36G>C (p.Leu12=)
| |
| 5 | g.71719329G= | CA1554416402 | CARTPT | c.36G= (p.Leu12=)
| |
| 5 | g.71719329G>T | CA445021244 | CARTPT | c.36G>T (p.Leu12=)
| |
| 5 | g.71719329_71719332delinsGGGC | CA1554416403 | CARTPT | c.36_39delinsGGGC (p.Leu12=)
| |
| 5 | g.71719330G>A | CA360104242 | CARTPT | c.37G>A (p.Gly13Ser)
| |
| 5 | g.71719330G>C | CA360104243 | CARTPT | c.37G>C (p.Gly13Arg)
| |
| 5 | g.71719330G>T | CA360104244 | CARTPT | c.37G>T (p.Gly13Cys)
| |
| 5 | g.71719331_71719333del | CA3298263 | CARTPT | c.38_40del (p.Gly13del)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.71719331G>A | CA360104245 | CARTPT | c.38G>A (p.Gly13Asp)
| dbSNP gnomAD v2 |
| 5 | g.71719331G>C | CA360104246 | CARTPT | c.38G>C (p.Gly13Ala)
| |
| 5 | g.71719331G= | CA1554416411 | CARTPT | c.38G= (p.Gly13=)
| |
| 5 | g.71719331G>T | CA360104247 | CARTPT | c.38G>T (p.Gly13Val)
| |
| 5 | g.71719332C>A | CA445021246 | CARTPT | c.39C>A (p.Gly13=)
| |
| 5 | g.71719332C>G | CA445021247 | CARTPT | c.39C>G (p.Gly13=)
| |
| 5 | g.71719332C>T | CA445021248 | CARTPT | c.39C>T (p.Gly13=)
| |
| 5 | g.71719333G>A | CA360104248 | CARTPT | c.40G>A (p.Ala14Thr)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.71719333G>C | CA360104249 | CARTPT | c.40G>C (p.Ala14Pro)
| |
| 5 | g.71719333G= | CA1554416414 | CARTPT | c.40G= (p.Ala14=)
| |
| 5 | g.71719333G>T | CA360104250 | CARTPT | c.40G>T (p.Ala14Ser)
| gnomAD v4 |
| 5 | g.71719334C>A | CA360104253 | CARTPT | c.41C>A (p.Ala14Asp)
| |
| 5 | g.71719334C>G | CA360104252 | CARTPT | c.41C>G (p.Ala14Gly)
| |
| 5 | g.71719334C>T | CA360104251 | CARTPT | c.41C>T (p.Ala14Val)
| |
| 5 | g.71719335C>A | CA445021250 | CARTPT | c.42C>A (p.Ala14=)
| gnomAD v4 |
| 5 | g.71719335C= | CA1554416417 | CARTPT | c.42C= (p.Ala14=)
| |
| 5 | g.71719335C>G | CA445021251 | CARTPT | c.42C>G (p.Ala14=)
| |
| 5 | g.71719335C>T | CA445021252 | CARTPT | c.42C>T (p.Ala14=)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.71719336G>A | CA360104254 | CARTPT | c.43G>A (p.Ala15Thr)
| |
| 5 | g.71719336G>C | CA360104255 | CARTPT | c.43G>C (p.Ala15Pro)
| |
| 5 | g.71719336G>T | CA360104256 | CARTPT | c.43G>T (p.Ala15Ser)
| |
| 5 | g.71719337C>A | CA360104257 | CARTPT | c.44C>A (p.Ala15Asp)
| |
| 5 | g.71719337C>G | CA360104258 | CARTPT | c.44C>G (p.Ala15Gly)
| gnomAD v4 |
| 5 | g.71719337C>T | CA360104259 | CARTPT | c.44C>T (p.Ala15Val)
| |
| 5 | g.71719338C>A | CA445021253 | CARTPT | c.45C>A (p.Ala15=)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.71719338C= | CA1554416419 | CARTPT | c.45C= (p.Ala15=)
| |
| 5 | g.71719338C>G | CA445021254 | CARTPT | c.45C>G (p.Ala15=)
| |
| 5 | g.71719338C>T | CA445021255 | CARTPT | c.45C>T (p.Ala15=)
| |
| 5 | g.71719339C>A | CA360104260 | CARTPT | c.46C>A (p.Leu16Met)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.71719339C= | CA1554416423 | CARTPT | c.46C= (p.Leu16=)
| |
| 5 | g.71719339C>G | CA360104261 | CARTPT | c.46C>G (p.Leu16Val)
| |
| 5 | g.71719339C>T | CA445021256 | CARTPT | c.46C>T (p.Leu16=)
| dbSNP gnomAD v4 |
| 5 | g.71719340T>A | CA360104262 | CARTPT | c.47T>A (p.Leu16Gln)
| |
| 5 | g.71719340T>C | CA360104263 | CARTPT | c.47T>C (p.Leu16Pro)
| |
| 5 | g.71719340T>G | CA360104264 | CARTPT | c.47T>G (p.Leu16Arg)
| gnomAD v4 |
| 5 | g.71719341G>A | CA445021257 | CARTPT | c.48G>A (p.Leu16=)
| |
| 5 | g.71719341G>C | CA445021258 | CARTPT | c.48G>C (p.Leu16=)
| gnomAD v4 |
| 5 | g.71719341G>T | CA445021259 | CARTPT | c.48G>T (p.Leu16=)
| gnomAD v4 |
| 5 | g.71719342C>A | CA360104265 | CARTPT | c.49C>A (p.Leu17Met)
| |
| 5 | g.71719342C= | CA1554416428 | CARTPT | c.49C= (p.Leu17=)
| |
| 5 | g.71719342C>G | CA3298264 | CARTPT | c.49C>G (p.Leu17Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.71719342C>T | CA445021260 | CARTPT | c.49C>T (p.Leu17=)
| |
| 5 | g.71719343T>A | CA360104268 | CARTPT | c.50T>A (p.Leu17Gln)
| |
| 5 | g.71719343T>C | CA360104266 | CARTPT | c.50T>C (p.Leu17Pro)
| |
| 5 | g.71719343T>G | CA360104267 | CARTPT | c.50T>G (p.Leu17Arg)
| |
| 5 | g.71719343_71719362delinsTGCTGATGCTACCTCTGTTG | CA1554416431 | CARTPT | c.50_69delinsTGCTGATGCTACCTCTGTTG (p.Leu17=)
| |
| 5 | g.71719344G>A | CA445021267 | CARTPT | c.51G>A (p.Leu17=)
| dbSNP gnomAD v4 |
| 5 | g.71719344G>C | CA445021269 | CARTPT | c.51G>C (p.Leu17=)
| |
| 5 | g.71719344G= | CA1554416435 | CARTPT | c.51G= (p.Leu17=)
| |
| 5 | g.71719344G>T | CA445021268 | CARTPT | c.51G>T (p.Leu17=)
| |
| 5 | g.71719345_71719363del | CA917499475 | CARTPT | c.52_70del (p.Leu18ValfsTer30)
| dbSNP |
| 5 | g.71719345C>A | CA360104269 | CARTPT | c.52C>A (p.Leu18Met)
| |
| 5 | g.71719345C= | CA1554416444 | CARTPT | c.52C= (p.Leu18=)
| |
| 5 | g.71719345C>G | CA360104270 | CARTPT | c.52C>G (p.Leu18Val)
| |
| 5 | g.71719345C>T | CA445021270 | CARTPT | c.52C>T (p.Leu18=)
| dbSNP gnomAD v4 |
| 5 | g.71719347_71719356del | CA2674169241 | CARTPT | c.54_63del (p.Met19CysfsTer?)
| gnomAD v4 |
| 5 | g.71719346T>A | CA360104271 | CARTPT | c.53T>A (p.Leu18Gln)
| gnomAD v4 |
| 5 | g.71719346T>C | CA3298265 | CARTPT | c.53T>C (p.Leu18Pro)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.71719346T>G | CA360104272 | CARTPT | c.53T>G (p.Leu18Arg)
| |
| 5 | g.71719346T= | CA1554416449 | CARTPT | c.53T= (p.Leu18=)
| |
| 5 | g.71719347G>A | CA445021271 | CARTPT | c.54G>A (p.Leu18=)
| |
| 5 | g.71719347G>C | CA445021272 | CARTPT | c.54G>C (p.Leu18=)
| |
| 5 | g.71719347G>T | CA445021273 | CARTPT | c.54G>T (p.Leu18=)
| |
| 5 | g.71719348A= | CA1554416454 | CARTPT | c.55A= (p.Met19=)
| |
| 5 | g.71719348A>C | CA360104273 | CARTPT | c.55A>C (p.Met19Leu)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.71719348A>G | CA360104274 | CARTPT | c.55A>G (p.Met19Val)
| gnomAD v4 |
| 5 | g.71719348A>T | CA360104275 | CARTPT | c.55A>T (p.Met19Leu)
| |
