| 5 | g.71719313_71719340delinsGGCTGCTGCCCCTCCTGGGCGCCGCCCT | CA1554416357 | CARTPT | c.20_47delinsGGCTGCTGCCCCTCCTGGGCGCCGCCCT (p.Arg7=)
| |
| 5 | g.71719321_71719347del | CA3298258 | CARTPT | c.28_54del (p.Pro10_Leu18del)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 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)
| |
| 5 | g.71719398C>A | CA445021309 | CARTPT | c.105C>A (p.Pro35=)
| |
| 5 | g.71719398C>G | CA445021307 | CARTPT | c.105C>G (p.Pro35=)
| gnomAD v4 |
| 5 | g.71719398C>T | CA445021308 | CARTPT | c.105C>T (p.Pro35=)
| |
| 5 | g.71719399C>A | CA445021310 | CARTPT | c.106C>A (p.Arg36=)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.71719399C= | CA1554416593 | CARTPT | c.106C= (p.Arg36=)
| |
| 5 | g.71719399C>G | CA360104379 | CARTPT | c.106C>G (p.Arg36Gly)
| |
| 5 | g.71719399C>T | CA360104380 | CARTPT | c.106C>T (p.Arg36Ter)
| gnomAD v4 |
| 5 | g.71719400G>A | CA120740054 | CARTPT | c.107G>A (p.Arg36Gln)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.71719400G>C | CA360104381 | CARTPT | c.107G>C (p.Arg36Pro)
| |
| 5 | g.71719400G= | CA1554416598 | CARTPT | c.107G= (p.Arg36=)
| |
| 5 | g.71719400G>T | CA360104382 | CARTPT | c.107G>T (p.Arg36Leu)
| |
| 5 | g.71719401A= | CA1554416600 | CARTPT | c.108A= (p.Arg36=)
| |
| 5 | g.71719401A>C | CA445021311 | CARTPT | c.108A>C (p.Arg36=)
| dbSNP |
| 5 | g.71719401A>G | CA3298276 | CARTPT | c.108A>G (p.Arg36=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.71719401A>T | CA445021312 | CARTPT | c.108A>T (p.Arg36=)
| |
| 5 | g.71719402G>A | CA360104383 | CARTPT | c.109G>A (p.Ala37Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.71719402G>C | CA360104384 | CARTPT | c.109G>C (p.Ala37Pro)
| |
| 5 | g.71719402G= | CA1554416604 | CARTPT | c.109G= (p.Ala37=)
| |
| 5 | g.71719402G>T | CA360104385 | CARTPT | c.109G>T (p.Ala37Ser)
| |
| 5 | g.71719403C>A | CA360104386 | CARTPT | c.110C>A (p.Ala37Asp)
| gnomAD v4 |
| 5 | g.71719403C>G | CA360104387 | CARTPT | c.110C>G (p.Ala37Gly)
| gnomAD v4 |
| 5 | g.71719403C>T | CA360104388 | CARTPT | c.110C>T (p.Ala37Val)
| |
| 5 | g.71719405del | CA2674169243 | CARTPT | c.112del (p.Leu38TrpfsTer16)
| gnomAD v4 |
| 5 | g.71719404C>A | CA445021313 | CARTPT | c.111C>A (p.Ala37=)
| |
| 5 | g.71719404C>G | CA445021314 | CARTPT | c.111C>G (p.Ala37=)
| |
| 5 | g.71719404C>T | CA445021315 | CARTPT | c.111C>T (p.Ala37=)
| |
| 5 | g.71719405C>A | CA360104389 | CARTPT | c.112C>A (p.Leu38Met)
| |
| 5 | g.71719405C>G | CA360104390 | CARTPT | c.112C>G (p.Leu38Val)
| |
| 5 | g.71719405C>T | CA445021316 | CARTPT | c.112C>T (p.Leu38=)
| gnomAD v4 |
| 5 | g.71719406T>A | CA360104392 | CARTPT | c.113T>A (p.Leu38Gln)
| |
| 5 | g.71719406T>C | CA360104393 | CARTPT | c.113T>C (p.Leu38Pro)
| |
| 5 | g.71719406T>G | CA360104391 | CARTPT | c.113T>G (p.Leu38Arg)
| |
| 5 | g.71719407G>A | CA445021317 | CARTPT | c.114G>A (p.Leu38=)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.71719407G>C | CA445021318 | CARTPT | c.114G>C (p.Leu38=)
| |
| 5 | g.71719407G= | CA1554416614 | CARTPT | c.114G= (p.Leu38=)
| |
| 5 | g.71719407G>T | CA445021319 | CARTPT | c.114G>T (p.Leu38=)
| |
| 5 | g.71719408G>A | CA360104395 | CARTPT | c.115G>A (p.Asp39Asn)
| |
| 5 | g.71719408G>C | CA360104394 | CARTPT | c.115G>C (p.Asp39His)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.71719408G= | CA1554416617 | CARTPT | c.115G= (p.Asp39=)
| |
| 5 | g.71719408G>T | CA360104396 | CARTPT | c.115G>T (p.Asp39Tyr)
| |
| 5 | g.71719409A>C | CA360104397 | CARTPT | c.116A>C (p.Asp39Ala)
| |
| 5 | g.71719409A>G | CA360104399 | CARTPT | c.116A>G (p.Asp39Gly)
| gnomAD v4 |
| 5 | g.71719409A>T | CA360104398 | CARTPT | c.116A>T (p.Asp39Val)
| |
| 5 | g.71719410C>A | CA360104400 | CARTPT | c.117C>A (p.Asp39Glu)
| |
| 5 | g.71719410C>G | CA360104401 | CARTPT | c.117C>G (p.Asp39Glu)
| |
| 5 | g.71719410C>T | CA445021320 | CARTPT | c.117C>T (p.Asp39=)
| gnomAD v4 |
| 5 | g.71719411A>C | CA360104402 | CARTPT | c.118A>C (p.Ile40Leu)
| |
| 5 | g.71719411A>G | CA360104403 | CARTPT | c.118A>G (p.Ile40Val)
| gnomAD v4 |
| 5 | g.71719411A>T | CA360104404 | CARTPT | c.118A>T (p.Ile40Phe)
| |
| 5 | g.71719412T>A | CA360104405 | CARTPT | c.119T>A (p.Ile40Asn)
| COSMIC |
| 5 | g.71719412T>C | CA360104406 | CARTPT | c.119T>C (p.Ile40Thr)
| |
| 5 | g.71719412T>G | CA360104407 | CARTPT | c.119T>G (p.Ile40Ser)
| |
| 5 | g.71719413C>A | CA445021321 | CARTPT | c.120C>A (p.Ile40=)
| |
| 5 | g.71719413C>G | CA360104408 | CARTPT | c.120C>G (p.Ile40Met)
| |
| 5 | g.71719413C>T | CA445021322 | CARTPT | c.120C>T (p.Ile40=)
| |
| 5 | g.71719414T>A | CA360104409 | CARTPT | c.121T>A (p.Tyr41Asn)
| |
| 5 | g.71719414T>C | CA360104410 | CARTPT | c.121T>C (p.Tyr41His)
| |
| 5 | g.71719414T>G | CA360104411 | CARTPT | c.121T>G (p.Tyr41Asp)
| |
| 5 | g.71719415A= | CA1554416620 | CARTPT | c.122A= (p.Tyr41=)
| |
| 5 | g.71719415A>C | CA360104414 | CARTPT | c.122A>C (p.Tyr41Ser)
| |
| 5 | g.71719415A>G | CA360104412 | CARTPT | c.122A>G (p.Tyr41Cys)
| dbSNP |
| 5 | g.71719415A>T | CA360104413 | CARTPT | c.122A>T (p.Tyr41Phe)
| |
| 5 | g.71719416C>A | CA360104415 | CARTPT | c.123C>A (p.Tyr41Ter)
| |
| 5 | g.71719416C>G | CA360104416 | CARTPT | c.123C>G (p.Tyr41Ter)
| |
| 5 | g.71719416C>T | CA445021323 | CARTPT | c.123C>T (p.Tyr41=)
| |
| 5 | g.71719417T>A | CA360104417 | CARTPT | c.124T>A (p.Ser42Thr)
| |
| 5 | g.71719417T>C | CA360104418 | CARTPT | c.124T>C (p.Ser42Pro)
| |
| 5 | g.71719417T>G | CA360104419 | CARTPT | c.124T>G (p.Ser42Ala)
| |
| 5 | g.71719418C>A | CA360104420 | CARTPT | c.125C>A (p.Ser42Tyr)
| |
| 5 | g.71719418C= | CA1554416625 | CARTPT | c.125C= (p.Ser42=)
| |
| 5 | g.71719418C>G | CA3298277 | CARTPT | c.125C>G (p.Ser42Cys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.71719418C>T | CA360104421 | CARTPT | c.125C>T (p.Ser42Phe)
| COSMIC |
| 5 | g.71719419T>A | CA445021324 | CARTPT | c.126T>A (p.Ser42=)
| |
| 5 | g.71719419T>C | CA445021326 | CARTPT | c.126T>C (p.Ser42=)
| |
| 5 | g.71719419T>G | CA445021325 | CARTPT | c.126T>G (p.Ser42=)
| |
| 5 | g.71719420G>A | CA360104422 | CARTPT | c.127G>A (p.Ala43Thr)
| |
| 5 | g.71719420G>C | CA360104423 | CARTPT | c.127G>C (p.Ala43Pro)
| |
| 5 | g.71719420G>T | CA360104424 | CARTPT | c.127G>T (p.Ala43Ser)
| |
| 5 | g.71719421C>A | CA360104426 | CARTPT | c.128C>A (p.Ala43Asp)
| |
| 5 | g.71719421C= | CA1554416631 | CARTPT | c.128C= (p.Ala43=)
| |
| 5 | g.71719421C>G | CA360104425 | CARTPT | c.128C>G (p.Ala43Gly)
| |
| 5 | g.71719421C>T | CA3298278 | CARTPT | c.128C>T (p.Ala43Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.71719422C>A | CA445021327 | CARTPT | c.129C>A (p.Ala43=)
| dbSNP gnomAD v4 |
| 5 | g.71719422C= | CA1554416655 | CARTPT | c.129C= (p.Ala43=)
| |
| 5 | g.71719422C>G | CA445021328 | CARTPT | c.129C>G (p.Ala43=)
| |
| 5 | g.71719422C>T | CA120740055 | CARTPT | c.129C>T (p.Ala43=)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.71719423G>A | CA360104427 | CARTPT | c.130G>A (p.Val44Met)
| gnomAD v4 |
| 5 | g.71719423G>C | CA360104428 | CARTPT | c.130G>C (p.Val44Leu)
| |
| 5 | g.71719423G>T | CA360104429 | CARTPT | c.130G>T (p.Val44Leu)
| |
| 5 | g.71719424T>A | CA360104430 | CARTPT | c.131T>A (p.Val44Glu)
| |
| 5 | g.71719424T>C | CA360104431 | CARTPT | c.131T>C (p.Val44Ala)
| COSMIC |
| 5 | g.71719424T>G | CA360104432 | CARTPT | c.131T>G (p.Val44Gly)
| |
| 5 | g.71719425G>A | CA445021329 | CARTPT | c.132G>A (p.Val44=)
| |
| 5 | g.71719425G>C | CA445021330 | CARTPT | c.132G>C (p.Val44=)
| |
| 5 | g.71719425G>T | CA445021331 | CARTPT | c.132G>T (p.Val44=)
| |
| 5 | g.71719426G>A | CA360104433 | CARTPT | c.133G>A (p.Asp45Asn)
| |
| 5 | g.71719426G>C | CA360104434 | CARTPT | c.133G>C (p.Asp45His)
| gnomAD v4 |
| 5 | g.71719426G>T | CA360104435 | CARTPT | c.133G>T (p.Asp45Tyr)
| |
| 5 | g.71719427A= | CA1554416660 | CARTPT | c.134A= (p.Asp45=)
| |
| 5 | g.71719427A>C | CA360104436 | CARTPT | c.134A>C (p.Asp45Ala)
| |
| 5 | g.71719427A>G | CA360104437 | CARTPT | c.134A>G (p.Asp45Gly)
| gnomAD v4 COSMIC |
| 5 | g.71719427A>T | CA360104438 | CARTPT | c.134A>T (p.Asp45Val)
| dbSNP |
| 5 | g.71719428T>A | CA360104440 | CARTPT | c.135T>A (p.Asp45Glu)
| |
| 5 | g.71719428T>C | CA445021332 | CARTPT | c.135T>C (p.Asp45=)
| |
| 5 | g.71719428T>G | CA360104439 | CARTPT | c.135T>G (p.Asp45Glu)
| |
| 5 | g.71719429G>A | CA360104441 | CARTPT | c.136G>A (p.Asp46Asn)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.71719429G>C | CA360104442 | CARTPT | c.136G>C (p.Asp46His)
| |
| 5 | g.71719429G= | CA1554416666 | CARTPT | c.136G= (p.Asp46=)
| |
| 5 | g.71719429G>T | CA360104443 | CARTPT | c.136G>T (p.Asp46Tyr)
| |
| 5 | g.71719430A>C | CA360104444 | CARTPT | c.137A>C (p.Asp46Ala)
| |
| 5 | g.71719430A>G | CA360104445 | CARTPT | c.137A>G (p.Asp46Gly)
| |
| 5 | g.71719430A>T | CA360104446 | CARTPT | c.137A>T (p.Asp46Val)
| |
| 5 | g.71719431T>A | CA360104447 | CARTPT | c.138T>A (p.Asp46Glu)
| |
| 5 | g.71719431T>C | CA3298279 | CARTPT | c.138T>C (p.Asp46=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.71719431T>G | CA360104448 | CARTPT | c.138T>G (p.Asp46Glu)
| |
| 5 | g.71719431T= | CA1554416669 | CARTPT | c.138T= (p.Asp46=)
| |
| 5 | g.71719432G>A | CA360104449 | CARTPT | c.139G>A (p.Ala47Thr)
| COSMIC |
| 5 | g.71719432G>C | CA360104450 | CARTPT | c.139G>C (p.Ala47Pro)
| |
| 5 | g.71719432G>T | CA360104451 | CARTPT | c.139G>T (p.Ala47Ser)
| |
| 5 | g.71719433C>A | CA360104454 | CARTPT | c.140C>A (p.Ala47Asp)
| |
| 5 | g.71719433C>G | CA360104453 | CARTPT | c.140C>G (p.Ala47Gly)
| |
| 5 | g.71719433C>T | CA360104452 | CARTPT | c.140C>T (p.Ala47Val)
| |
| 5 | g.71719434C>A | CA445021333 | CARTPT | c.141C>A (p.Ala47=)
| |
| 5 | g.71719434C= | CA1554416672 | CARTPT | c.141C= (p.Ala47=)
| |
| 5 | g.71719434C>G | CA445021334 | CARTPT | c.141C>G (p.Ala47=)
| |
| 5 | g.71719434C>T | CA3298280 | CARTPT | c.141C>T (p.Ala47=)
| dbSNP ExAC gnomAD v2 |
| 5 | g.71719456_71719457insAGGGGTGGAAACTTAGCGGACGCTGTCCCAGGTACTGACCGCGGGTCTCTGAGCCGCTGGGGCCCCTGTTGCTCAGAGGGGCCGGGATGAGGGATTCGCTCAACAGACTCCCACGAGAAGGAGCTGGTCG | CA2513755955 | CARTPT | c.159+4_159+5insAGGGGTGGAAACTTAGCGGACGCTGTCCCAGGTACTGACCGCGGGTCTCTGAGCCGCTGGGGCCCCTGTTGCTCAGAGGGGCCGGGATGAGGGATTCGCTCAACAGACTCCCACGAGAAGGAGCTGGTCG
| |
| 5 | g.71719435T>A | CA360104457 | CARTPT | c.142T>A (p.Ser48Thr)
| |
| 5 | g.71719435T>C | CA360104455 | CARTPT | c.142T>C (p.Ser48Pro)
| |
| 5 | g.71719435T>G | CA360104456 | CARTPT | c.142T>G (p.Ser48Ala)
| |
| 5 | g.71719436C>A | CA360104458 | CARTPT | c.143C>A (p.Ser48Tyr)
| dbSNP |
| 5 | g.71719436C= | CA1554416678 | CARTPT | c.143C= (p.Ser48=)
| |
| 5 | g.71719436C>G | CA360104459 | CARTPT | c.143C>G (p.Ser48Cys)
| |
| 5 | g.71719436C>T | CA360104460 | CARTPT | c.143C>T (p.Ser48Phe)
| dbSNP |
| 5 | g.71719437C>A | CA445021335 | CARTPT | c.144C>A (p.Ser48=)
| COSMIC |
| 5 | g.71719437C>G | CA445021336 | CARTPT | c.144C>G (p.Ser48=)
| gnomAD v4 |
| 5 | g.71719437C>T | CA445021337 | CARTPT | c.144C>T (p.Ser48=)
| gnomAD v4 |
