| 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)
| |
| 5 | g.71719349T>A | CA360104276 | CARTPT | c.56T>A (p.Met19Lys)
| |
| 5 | g.71719349T>C | CA360104277 | CARTPT | c.56T>C (p.Met19Thr)
| |
| 5 | g.71719349T>G | CA360104278 | CARTPT | c.56T>G (p.Met19Arg)
| gnomAD v4 |
| 5 | g.71719350G>A | CA3298266 | CARTPT | c.57G>A (p.Met19Ile)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.71719350G>C | CA360104280 | CARTPT | c.57G>C (p.Met19Ile)
| |
| 5 | g.71719350G= | CA1554416461 | CARTPT | c.57G= (p.Met19=)
| |
| 5 | g.71719350G>T | CA360104279 | CARTPT | c.57G>T (p.Met19Ile)
| COSMIC |
| 5 | g.71719351C>A | CA360104281 | CARTPT | c.58C>A (p.Leu20Ile)
| |
| 5 | g.71719351C>G | CA360104282 | CARTPT | c.58C>G (p.Leu20Val)
| |
| 5 | g.71719351C>T | CA445021274 | CARTPT | c.58C>T (p.Leu20=)
| gnomAD v4 |
| 5 | g.71719351_71719360delinsCTACCTCTGT | CA1554416470 | CARTPT | c.58_67delinsCTACCTCTGT (p.Leu20=)
| |
| 5 | g.71719352T>A | CA360104283 | CARTPT | c.59T>A (p.Leu20Gln)
| |
| 5 | g.71719352T>C | CA360104284 | CARTPT | c.59T>C (p.Leu20Pro)
| gnomAD v4 |
| 5 | g.71719352T>G | CA360104285 | CARTPT | c.59T>G (p.Leu20Arg)
| gnomAD v4 |
| 5 | g.71719353_71719361del | CA560375688 | CARTPT | c.60_68del (p.Pro21_Leu23del)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.71719356_71719368del | CA2674169242 | CARTPT | c.63_75del (p.Leu22ValfsTer28)
| gnomAD v4 |
| 5 | g.71719353A= | CA1554416474 | CARTPT | c.60A= (p.Leu20=)
| |
| 5 | g.71719353A>C | CA445021275 | CARTPT | c.60A>C (p.Leu20=)
| |
| 5 | g.71719353A>G | CA445021276 | CARTPT | c.60A>G (p.Leu20=)
| dbSNP |
| 5 | g.71719353A>T | CA445021277 | CARTPT | c.60A>T (p.Leu20=)
| gnomAD v4 |
| 5 | g.71719354C>A | CA360104287 | CARTPT | c.61C>A (p.Pro21Thr)
| gnomAD v4 |
| 5 | g.71719354C= | CA1554416476 | CARTPT | c.61C= (p.Pro21=)
| |
| 5 | g.71719354C>G | CA360104286 | CARTPT | c.61C>G (p.Pro21Ala)
| |
| 5 | g.71719354C>T | CA3298267 | CARTPT | c.61C>T (p.Pro21Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.71719355C>A | CA360104288 | CARTPT | c.62C>A (p.Pro21His)
| |
| 5 | g.71719355C>G | CA360104289 | CARTPT | c.62C>G (p.Pro21Arg)
| |
| 5 | g.71719355C>T | CA360104290 | CARTPT | c.62C>T (p.Pro21Leu)
| gnomAD v4 |
| 5 | g.71719356T>A | CA445021278 | CARTPT | c.63T>A (p.Pro21=)
| |
| 5 | g.71719356T>C | CA3298268 | CARTPT | c.63T>C (p.Pro21=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.71719356T>G | CA445021279 | CARTPT | c.63T>G (p.Pro21=)
| |
| 5 | g.71719356T= | CA1554416481 | CARTPT | c.63T= (p.Pro21=)
| |
| 5 | g.71719357C>A | CA360104291 | CARTPT | c.64C>A (p.Leu22Met)
| |
| 5 | g.71719357C>G | CA360104292 | CARTPT | c.64C>G (p.Leu22Val)
| |
| 5 | g.71719357C>T | CA445021280 | CARTPT | c.64C>T (p.Leu22=)
| |
| 5 | g.71719358T>A | CA360104295 | CARTPT | c.65T>A (p.Leu22Gln)
| |
| 5 | g.71719358T>C | CA360104293 | CARTPT | c.65T>C (p.Leu22Pro)
| dbSNP |
| 5 | g.71719358T>G | CA360104294 | CARTPT | c.65T>G (p.Leu22Arg)
| |
| 5 | g.71719358T= | CA1554416488 | CARTPT | c.65T= (p.Leu22=)
| |
| 5 | g.71719359G>A | CA445021281 | CARTPT | c.66G>A (p.Leu22=)
| |
| 5 | g.71719359G>C | CA445021282 | CARTPT | c.66G>C (p.Leu22=)
| |
| 5 | g.71719359G>T | CA445021283 | CARTPT | c.66G>T (p.Leu22=)
| |
| 5 | g.71719359_71719360delinsGT | CA1554416493 | CARTPT | c.66_67delinsGT (p.Leu22=)
| |
| 5 | g.71719360T>A | CA360104296 | CARTPT | c.67T>A (p.Leu23Met)
| |
| 5 | g.71719360T>C | CA445021284 | CARTPT | c.67T>C (p.Leu23=)
| gnomAD v4 |
| 5 | g.71719360T>G | CA360104297 | CARTPT | c.67T>G (p.Leu23Val)
| |
| 5 | g.71719361del | CA1077369012 | CARTPT | c.68del (p.Leu23TrpfsTer?)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.71719361T>A | CA360104298 | CARTPT | c.68T>A (p.Leu23Ter)
| |
| 5 | g.71719361T>C | CA360104299 | CARTPT | c.68T>C (p.Leu23Ser)
| gnomAD v4 |
| 5 | g.71719361T>G | CA360104300 | CARTPT | c.68T>G (p.Leu23Trp)
| |
| 5 | g.71719362G>A | CA445021285 | CARTPT | c.69G>A (p.Leu23=)
| |
| 5 | g.71719362G>C | CA360104301 | CARTPT | c.69G>C (p.Leu23Phe)
| |
| 5 | g.71719362G>T | CA360104302 | CARTPT | c.69G>T (p.Leu23Phe)
| |
| 5 | g.71719363G>A | CA360104303 | CARTPT | c.70G>A (p.Gly24Ser)
| dbSNP |
| 5 | g.71719363G>C | CA360104304 | CARTPT | c.70G>C (p.Gly24Arg)
| |
| 5 | g.71719363G= | CA1554416500 | CARTPT | c.70G= (p.Gly24=)
| |
| 5 | g.71719363G>T | CA360104305 | CARTPT | c.70G>T (p.Gly24Cys)
| gnomAD v4 |
| 5 | g.71719364G>A | CA360104306 | CARTPT | c.71G>A (p.Gly24Asp)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.71719364G>C | CA360104307 | CARTPT | c.71G>C (p.Gly24Ala)
| |
| 5 | g.71719364G= | CA1554416505 | CARTPT | c.71G= (p.Gly24=)
| |
| 5 | g.71719364G>T | CA360104308 | CARTPT | c.71G>T (p.Gly24Val)
| |
| 5 | g.71719365T>A | CA445021287 | CARTPT | c.72T>A (p.Gly24=)
| |
| 5 | g.71719365T>C | CA445021288 | CARTPT | c.72T>C (p.Gly24=)
| |
| 5 | g.71719365T>G | CA445021286 | CARTPT | c.72T>G (p.Gly24=)
| |
| 5 | g.71719366A>C | CA360104311 | CARTPT | c.73A>C (p.Thr25Pro)
| |
| 5 | g.71719366A>G | CA360104309 | CARTPT | c.73A>G (p.Thr25Ala)
| gnomAD v4 |
| 5 | g.71719366A>T | CA360104310 | CARTPT | c.73A>T (p.Thr25Ser)
| |
| 5 | g.71719367C>A | CA360104312 | CARTPT | c.74C>A (p.Thr25Asn)
| |
| 5 | g.71719367C= | CA1554416509 | CARTPT | c.74C= (p.Thr25=)
| |
| 5 | g.71719367C>G | CA360104313 | CARTPT | c.74C>G (p.Thr25Ser)
| |
| 5 | g.71719367C>T | CA3298269 | CARTPT | c.74C>T (p.Thr25Ile)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.71719368C>A | CA445021290 | CARTPT | c.75C>A (p.Thr25=)
| |
| 5 | g.71719368C= | CA1554416512 | CARTPT | c.75C= (p.Thr25=)
| |
| 5 | g.71719368C>G | CA445021289 | CARTPT | c.75C>G (p.Thr25=)
| gnomAD v4 |
| 5 | g.71719368C>T | CA3298270 | CARTPT | c.75C>T (p.Thr25=)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.71719369C>A | CA360104314 | CARTPT | c.76C>A (p.Arg26Ser)
| |
| 5 | g.71719369C= | CA1554416516 | CARTPT | c.76C= (p.Arg26=)
| |
| 5 | g.71719369C>G | CA360104315 | CARTPT | c.76C>G (p.Arg26Gly)
| dbSNP gnomAD v4 |
| 5 | g.71719369C>T | CA3298271 | CARTPT | c.76C>T (p.Arg26Cys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.71719370G>A | CA360104316 | CARTPT | c.77G>A (p.Arg26His)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.71719370G>C | CA360104317 | CARTPT | c.77G>C (p.Arg26Pro)
| |
| 5 | g.71719370G= | CA1554416520 | CARTPT | c.77G= (p.Arg26=)
| |
| 5 | g.71719370G>T | CA360104318 | CARTPT | c.77G>T (p.Arg26Leu)
| |
| 5 | g.71719371T>A | CA445021291 | CARTPT | c.78T>A (p.Arg26=)
| |
| 5 | g.71719371T>C | CA445021293 | CARTPT | c.78T>C (p.Arg26=)
| gnomAD v4 |
| 5 | g.71719371T>G | CA445021292 | CARTPT | c.78T>G (p.Arg26=)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.71719371T= | CA1554416523 | CARTPT | c.78T= (p.Arg26=)
| |
| 5 | g.71719372G>A | CA360104319 | CARTPT | c.79G>A (p.Ala27Thr)
| dbSNP |
| 5 | g.71719372G>C | CA360104320 | CARTPT | c.79G>C (p.Ala27Pro)
| |
| 5 | g.71719372G= | CA1554416525 | CARTPT | c.79G= (p.Ala27=)
| |
| 5 | g.71719372G>T | CA360104321 | CARTPT | c.79G>T (p.Ala27Ser)
| |
| 5 | g.71719373C>A | CA360104324 | CARTPT | c.80C>A (p.Ala27Asp)
| |
| 5 | g.71719373C>G | CA360104322 | CARTPT | c.80C>G (p.Ala27Gly)
| |
| 5 | g.71719373C>T | CA360104323 | CARTPT | c.80C>T (p.Ala27Val)
| |
| 5 | g.71719374C>A | CA445021294 | CARTPT | c.81C>A (p.Ala27=)
| |
| 5 | g.71719374C= | CA1554416528 | CARTPT | c.81C= (p.Ala27=)
| |
| 5 | g.71719374C>G | CA445021295 | CARTPT | c.81C>G (p.Ala27=)
| |
| 5 | g.71719374C>T | CA3298272 | CARTPT | c.81C>T (p.Ala27=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.71719375C>A | CA120740052 | CARTPT | c.82C>A (p.Gln28Lys)
| dbSNP |
| 5 | g.71719375C= | CA1554416532 | CARTPT | c.82C= (p.Gln28=)
| |
| 5 | g.71719375C>G | CA360104325 | CARTPT | c.82C>G (p.Gln28Glu)
| |
| 5 | g.71719375C>T | CA360104326 | CARTPT | c.82C>T (p.Gln28Ter)
| |
| 5 | g.71719376A>C | CA360104327 | CARTPT | c.83A>C (p.Gln28Pro)
| |
| 5 | g.71719376A>G | CA360104328 | CARTPT | c.83A>G (p.Gln28Arg)
| |
| 5 | g.71719376A>T | CA360104329 | CARTPT | c.83A>T (p.Gln28Leu)
| |
| 5 | g.71719377G>A | CA445021296 | CARTPT | c.84G>A (p.Gln28=)
| |
| 5 | g.71719377G>C | CA360104330 | CARTPT | c.84G>C (p.Gln28His)
| |
| 5 | g.71719377G>T | CA360104331 | CARTPT | c.84G>T (p.Gln28His)
| |
| 5 | g.71719378G>A | CA360104332 | CARTPT | c.85G>A (p.Glu29Lys)
| gnomAD v4 |
| 5 | g.71719378G>C | CA360104333 | CARTPT | c.85G>C (p.Glu29Gln)
| |
| 5 | g.71719378G>T | CA360104334 | CARTPT | c.85G>T (p.Glu29Ter)
| |
| 5 | g.71719379A>C | CA360104335 | CARTPT | c.86A>C (p.Glu29Ala)
| |
| 5 | g.71719379A>G | CA360104337 | CARTPT | c.86A>G (p.Glu29Gly)
| |
| 5 | g.71719379A>T | CA360104336 | CARTPT | c.86A>T (p.Glu29Val)
| |
| 5 | g.71719379_71719380delinsAG | CA1554416538 | CARTPT | c.86_87delinsAG (p.Glu29=)
| |
| 5 | g.71719380G>A | CA445021297 | CARTPT | c.87G>A (p.Glu29=)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.71719380G>C | CA360104338 | CARTPT | c.87G>C (p.Glu29Asp)
| |
| 5 | g.71719380G= | CA1554416541 | CARTPT | c.87G= (p.Glu29=)
| |
| 5 | g.71719380G>T | CA360104339 | CARTPT | c.87G>T (p.Glu29Asp)
| |
| 5 | g.71719381del | CA3298273 | CARTPT | c.88del (p.Asp30ThrfsTer24)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.71719381G>A | CA360104340 | CARTPT | c.88G>A (p.Asp30Asn)
| |
| 5 | g.71719381G>C | CA360104341 | CARTPT | c.88G>C (p.Asp30His)
| dbSNP |
| 5 | g.71719381G>T | CA360104342 | CARTPT | c.88G>T (p.Asp30Tyr)
| |
| 5 | g.71719382A>C | CA360104343 | CARTPT | c.89A>C (p.Asp30Ala)
| |
| 5 | g.71719382A>G | CA360104344 | CARTPT | c.89A>G (p.Asp30Gly)
| gnomAD v4 |
| 5 | g.71719382A>T | CA360104345 | CARTPT | c.89A>T (p.Asp30Val)
| |
| 5 | g.71719383C>A | CA360104346 | CARTPT | c.90C>A (p.Asp30Glu)
| |
| 5 | g.71719383C= | CA1554416544 | CARTPT | c.90C= (p.Asp30=)
| |
| 5 | g.71719383C>G | CA360104347 | CARTPT | c.90C>G (p.Asp30Glu)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.71719383C>T | CA445021298 | CARTPT | c.90C>T (p.Asp30=)
| dbSNP gnomAD v4 |
| 5 | g.71719384G>A | CA360104348 | CARTPT | c.91G>A (p.Ala31Thr)
| gnomAD v4 |
| 5 | g.71719384G>C | CA360104349 | CARTPT | c.91G>C (p.Ala31Pro)
| |
| 5 | g.71719384G= | CA1554416547 | CARTPT | c.91G= (p.Ala31=)
| |
| 5 | g.71719384G>T | CA3298274 | CARTPT | c.91G>T (p.Ala31Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.71719385C>A | CA360104352 | CARTPT | c.92C>A (p.Ala31Asp)
| |
| 5 | g.71719385C>G | CA360104351 | CARTPT | c.92C>G (p.Ala31Gly)
| |
| 5 | g.71719385C>T | CA360104350 | CARTPT | c.92C>T (p.Ala31Val)
| |
| 5 | g.71719386C>A | CA445021299 | CARTPT | c.93C>A (p.Ala31=)
| |
| 5 | g.71719386C>G | CA445021301 | CARTPT | c.93C>G (p.Ala31=)
| |
| 5 | g.71719386C>T | CA445021300 | CARTPT | c.93C>T (p.Ala31=)
| |
| 5 | g.71719387G>A | CA3298275 | CARTPT | c.94G>A (p.Glu32Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.71719387G>C | CA360104353 | CARTPT | c.94G>C (p.Glu32Gln)
| |
| 5 | g.71719387G= | CA1554416563 | CARTPT | c.94G= (p.Glu32=)
| |
| 5 | g.71719387G>T | CA360104354 | CARTPT | c.94G>T (p.Glu32Ter)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.71719388A>C | CA360104355 | CARTPT | c.95A>C (p.Glu32Ala)
| |
| 5 | g.71719388A>G | CA360104356 | CARTPT | c.95A>G (p.Glu32Gly)
| |
| 5 | g.71719388A>T | CA360104357 | CARTPT | c.95A>T (p.Glu32Val)
| |
| 5 | g.71719389G>A | CA445021302 | CARTPT | c.96G>A (p.Glu32=)
| gnomAD v4 |
| 5 | g.71719389G>C | CA360104358 | CARTPT | c.96G>C (p.Glu32Asp)
| dbSNP |
| 5 | g.71719389G= | CA1554416575 | CARTPT | c.96G= (p.Glu32=)
| |
| 5 | g.71719389G>T | CA360104359 | CARTPT | c.96G>T (p.Glu32Asp)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.71719390C>A | CA360104360 | CARTPT | c.97C>A (p.Leu33Ile)
| |
| 5 | g.71719390C>G | CA360104361 | CARTPT | c.97C>G (p.Leu33Val)
| |
| 5 | g.71719390C>T | CA360104362 | CARTPT | c.97C>T (p.Leu33Phe)
| |
| 5 | g.71719391T>A | CA360104365 | CARTPT | c.98T>A (p.Leu33His)
| |
| 5 | g.71719391T>C | CA360104364 | CARTPT | c.98T>C (p.Leu33Pro)
| |
| 5 | g.71719391T>G | CA360104363 | CARTPT | c.98T>G (p.Leu33Arg)
| |
| 5 | g.71719392C>A | CA445021305 | CARTPT | c.99C>A (p.Leu33=)
| |
| 5 | g.71719392C>G | CA445021303 | CARTPT | c.99C>G (p.Leu33=)
| |
| 5 | g.71719392C>T | CA445021304 | CARTPT | c.99C>T (p.Leu33=)
| |
| 5 | g.71719393C>A | CA360104366 | CARTPT | c.100C>A (p.Gln34Lys)
| |
| 5 | g.71719393C>G | CA360104367 | CARTPT | c.100C>G (p.Gln34Glu)
| |
| 5 | g.71719393C>T | CA360104368 | CARTPT | c.100C>T (p.Gln34Ter)
| |
| 5 | g.71719394A= | CA1554416584 | CARTPT | c.101A= (p.Gln34=)
| |
| 5 | g.71719394A>C | CA360104369 | CARTPT | c.101A>C (p.Gln34Pro)
| |
| 5 | g.71719394A>G | CA120740053 | CARTPT | c.101A>G (p.Gln34Arg)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.71719394A>T | CA360104370 | CARTPT | c.101A>T (p.Gln34Leu)
| |
| 5 | g.71719395G>A | CA445021306 | CARTPT | c.102G>A (p.Gln34=)
| |
| 5 | g.71719395G>C | CA360104371 | CARTPT | c.102G>C (p.Gln34His)
| |
| 5 | g.71719395G>T | CA360104372 | CARTPT | c.102G>T (p.Gln34His)
| gnomAD v3 gnomAD v4 |
| 5 | g.71719396C>A | CA360104373 | CARTPT | c.103C>A (p.Pro35Thr)
| |
| 5 | g.71719396C>G | CA360104374 | CARTPT | c.103C>G (p.Pro35Ala)
| |
| 5 | g.71719396C>T | CA360104375 | CARTPT | c.103C>T (p.Pro35Ser)
| |
| 5 | g.71719397C>A | CA360104376 | CARTPT | c.104C>A (p.Pro35His)
| |
| 5 | g.71719397C>G | CA360104377 | CARTPT | c.104C>G (p.Pro35Arg)
| |
| 5 | g.71719397C>T | CA360104378 | CARTPT | c.104C>T (p.Pro35Leu)
| |
