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 |
5 | g.71719438C>A | CA360104461 | CARTPT | c.145C>A (p.His49Asn)
| |
5 | g.71719438C= | CA1554416684 | CARTPT | c.145C= (p.His49=)
| |
5 | g.71719438C>G | CA360104462 | CARTPT | c.145C>G (p.His49Asp)
| |
5 | g.71719438C>T | CA360104463 | CARTPT | c.145C>T (p.His49Tyr)
| dbSNP gnomAD v2 gnomAD v4 |
5 | g.71719439A= | CA1554416688 | CARTPT | c.146A= (p.His49=)
| |
5 | g.71719439A>C | CA360104464 | CARTPT | c.146A>C (p.His49Pro)
| |
5 | g.71719439A>G | CA360104465 | CARTPT | c.146A>G (p.His49Arg)
| |
5 | g.71719439A>T | CA120740056 | CARTPT | c.146A>T (p.His49Leu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.71719440C>A | CA360104466 | CARTPT | c.147C>A (p.His49Gln)
| dbSNP |
5 | g.71719440C= | CA1554416696 | CARTPT | c.147C= (p.His49=)
| |
5 | g.71719440C>G | CA360104467 | CARTPT | c.147C>G (p.His49Gln)
| |
5 | g.71719440C>T | CA445021338 | CARTPT | c.147C>T (p.His49=)
| COSMIC |
5 | g.71719441G>A | CA3298281 | CARTPT | c.148G>A (p.Glu50Lys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.71719441G>C | CA360104469 | CARTPT | c.148G>C (p.Glu50Gln)
| |
5 | g.71719441G= | CA1554416700 | CARTPT | c.148G= (p.Glu50=)
| |
5 | g.71719441G>T | CA360104468 | CARTPT | c.148G>T (p.Glu50Ter)
| |
5 | g.71719442A= | CA1554416704 | CARTPT | c.149A= (p.Glu50=)
| |
5 | g.71719442A>C | CA360104470 | CARTPT | c.149A>C (p.Glu50Ala)
| |
5 | g.71719442A>G | CA360104471 | CARTPT | c.149A>G (p.Glu50Gly)
| dbSNP gnomAD v2 gnomAD v4 |
5 | g.71719442A>T | CA360104472 | CARTPT | c.149A>T (p.Glu50Val)
| |
5 | g.71719443G>A | CA445021339 | CARTPT | c.150G>A (p.Glu50=)
| |
5 | g.71719443G>C | CA360104473 | CARTPT | c.150G>C (p.Glu50Asp)
| |
5 | g.71719443G>T | CA360104474 | CARTPT | c.150G>T (p.Glu50Asp)
| COSMIC |
5 | g.71719444A>C | CA360104475 | CARTPT | c.151A>C (p.Lys51Gln)
| |
5 | g.71719444A>G | CA360104476 | CARTPT | c.151A>G (p.Lys51Glu)
| gnomAD v4 |
5 | g.71719444A>T | CA360104477 | CARTPT | c.151A>T (p.Lys51Ter)
| |
5 | g.71719445A>C | CA360104478 | CARTPT | c.152A>C (p.Lys51Thr)
| |
5 | g.71719445A>G | CA360104479 | CARTPT | c.152A>G (p.Lys51Arg)
| |
5 | g.71719445A>T | CA360104480 | CARTPT | c.152A>T (p.Lys51Met)
| |
5 | g.71719446G>A | CA445021340 | CARTPT | c.153G>A (p.Lys51=)
| dbSNP gnomAD v2 gnomAD v4 |
5 | g.71719446G>C | CA360104482 | CARTPT | c.153G>C (p.Lys51Asn)
| |
5 | g.71719446G= | CA1554416706 | CARTPT | c.153G= (p.Lys51=)
| |
5 | g.71719446G>T | CA360104481 | CARTPT | c.153G>T (p.Lys51Asn)
| |
5 | g.71719447G>A | CA360104483 | CARTPT | c.154G>A (p.Glu52Lys)
| gnomAD v4 |
5 | g.71719447G>C | CA360104485 | CARTPT | c.154G>C (p.Glu52Gln)
| |
5 | g.71719447G>T | CA360104484 | CARTPT | c.154G>T (p.Glu52Ter)
| |
5 | g.71719448A>C | CA360104486 | CARTPT | c.155A>C (p.Glu52Ala)
| |
5 | g.71719448A>G | CA360104487 | CARTPT | c.155A>G (p.Glu52Gly)
| |
5 | g.71719448A>T | CA360104488 | CARTPT | c.155A>T (p.Glu52Val)
| |
5 | g.71719449G>A | CA445021341 | CARTPT | c.156G>A (p.Glu52=)
| |
5 | g.71719449G>C | CA360104489 | CARTPT | c.156G>C (p.Glu52Asp)
| |
5 | g.71719449G>T | CA360104490 | CARTPT | c.156G>T (p.Glu52Asp)
| |
5 | g.71719450C>A | CA360104491 | CARTPT | c.157C>A (p.Leu53Met)
| dbSNP gnomAD v2 gnomAD v4 |
5 | g.71719450C= | CA1554416713 | CARTPT | c.157C= (p.Leu53=)
| |
5 | g.71719450C>G | CA360104492 | CARTPT | c.157C>G (p.Leu53Val)
| gnomAD v4 |
5 | g.71719450C>T | CA445021342 | CARTPT | c.157C>T (p.Leu53=)
| |
5 | g.71719451T>A | CA360104493 | CARTPT | c.158T>A (p.Leu53Gln)
| |
5 | g.71719451T>C | CA360104494 | CARTPT | c.158T>C (p.Leu53Pro)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.71719451T>G | CA360104495 | CARTPT | c.158T>G (p.Leu53Arg)
| |
5 | g.71719451T= | CA1554416719 | CARTPT | c.158T= (p.Leu53=)
| |
5 | g.71719452G>A | CA445021343 | CARTPT | c.159G>A (p.Leu53=)
| |
5 | g.71719452G>C | CA445021344 | CARTPT | c.159G>C (p.Leu53=)
| gnomAD v4 |
5 | g.71719452G= | CA1554416723 | CARTPT | c.159G= (p.Leu53=)
| |
5 | g.71719452G>T | CA3298282 | CARTPT | c.159G>T (p.Leu53=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.71719453G>A | CA360104498 | CARTPT | c.159+1G>A (n.159+1G>A)
| |
5 | g.71719453G>C | CA360104497 | CARTPT | c.159+1G>C (n.159+1G>C)
| |
5 | g.71719453G>T | CA360104496 | CARTPT | c.159+1G>T (n.159+1G>T)
| |
5 | g.71719454T>A | CA360104499 | CARTPT | c.159+2T>A (n.159+2T>A)
| |
5 | g.71719454T>C | CA360104500 | CARTPT | c.159+2T>C (n.159+2T>C)
| |
5 | g.71719454T>G | CA360104501 | CARTPT | c.159+2T>G (n.159+2T>G)
| |
5 | g.71719456_71719462del | CA2674169244 | CARTPT | c.159+4_159+10del (n.159+4_159+10del)
| gnomAD v4 |
5 | g.71719455C>A | CA2674169245 | CARTPT | c.159+3C>A (n.159+3C>A)
| gnomAD v4 |
5 | g.71719455C>T | CA2578331718 | CARTPT | c.159+3C>T (n.159+3C>T)
| |
5 | g.71719456G>T | CA2512868567 | CARTPT | c.159+4G>T (n.159+4G>T)
| |
5 | g.71719457G>A | CA560375689 | CARTPT | c.159+5G>A (n.159+5G>A)
| dbSNP gnomAD v2 gnomAD v4 |
5 | g.71719457G= | CA1554416727 | CARTPT | c.159+5G= (n.159+5G=)
| |
5 | g.71719458T>C | CA3298283 | CARTPT | c.159+6T>C (n.159+6T>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.71719458T= | CA1554416731 | CARTPT | c.159+6T= (n.159+6T=)
| |
5 | g.71719459A= | CA1554416732 | CARTPT | c.159+7A= (n.159+7A=)
| |
5 | g.71719459A>G | CA560375690 | CARTPT | c.159+7A>G (n.159+7A>G)
| dbSNP gnomAD v2 gnomAD v4 |
5 | g.71719460T>C | CA3298284 | CARTPT | c.159+8T>C (n.159+8T>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.71719460T= | CA1554416734 | CARTPT | c.159+8T= (n.159+8T=)
| |
5 | g.71719462C>A | CA3298285 | CARTPT | c.159+10C>A (n.159+10C>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.71719462C= | CA1554416738 | CARTPT | c.159+10C= (n.159+10C=)
| |
5 | g.71719462C>G | CA2674169246 | CARTPT | c.159+10C>G (n.159+10C>G)
| gnomAD v4 |
5 | g.71719462C>T | CA813670344 | CARTPT | c.159+10C>T (n.159+10C>T)
| dbSNP gnomAD v4 |
5 | g.71719463C>A | CA2526256390 | CARTPT | c.159+11C>A (n.159+11C>A)
| |
5 | g.71719463C>G | CA2740649150 | CARTPT | c.159+11C>G (n.159+11C>G)
| |
5 | g.71719464C>G | CA2578331719 | CARTPT | c.159+12C>G (n.159+12C>G)
| |
5 | g.71719464C>T | CA2674169247 | CARTPT | c.159+12C>T (n.159+12C>T)
| gnomAD v4 |
5 | g.71719465C>A | CA2578331720 | CARTPT | c.159+13C>A (n.159+13C>A)
| |
5 | g.71719465C= | CA1554416741 | CARTPT | c.159+13C= (n.159+13C=)
| |
5 | g.71719465C>T | CA813670353 | CARTPT | c.159+13C>T (n.159+13C>T)
| dbSNP gnomAD v4 |
5 | g.71719467C>T | CA2578331721 | CARTPT | c.159+15C>T (n.159+15C>T)
| gnomAD v4 |
5 | g.71719468G>A | CA560375692 | CARTPT | c.159+16G>A (n.159+16G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.71719468G>C | CA1554416751 | CARTPT | c.159+16G>C (n.159+16G>C)
| dbSNP |
5 | g.71719468G= | CA1554416743 | CARTPT | c.159+16G= (n.159+16G=)
| |
5 | g.71719468G>T | CA560375691 | CARTPT | c.159+16G>T (n.159+16G>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.71719469C>A | CA1077369044 | CARTPT | c.159+17C>A (n.159+17C>A)
| dbSNP gnomAD v3 gnomAD v4 |
5 | g.71719469C= | CA1554416755 | CARTPT | c.159+17C= (n.159+17C=)
| |
5 | g.71719470T>A | CA2578331722 | CARTPT | c.159+18T>A (n.159+18T>A)
| |
5 | g.71719471C= | CA1554416756 | CARTPT | c.159+19C= (n.159+19C=)
| |
5 | g.71719471C>G | CA3298286 | CARTPT | c.159+19C>G (n.159+19C>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.71719471C>T | CA2674169248 | CARTPT | c.159+19C>T (n.159+19C>T)
| gnomAD v4 |
5 | g.71719473C>A | CA2766960270 | CARTPT | c.159+21C>A (n.159+21C>A)
| |
5 | g.71719473C= | CA1554416758 | CARTPT | c.159+21C= (n.159+21C=)
| |
5 | g.71719473C>G | CA813670368 | CARTPT | c.159+21C>G (n.159+21C>G)
| dbSNP gnomAD v3 gnomAD v4 |
5 | g.71719473C>T | CA2578331723 | CARTPT | c.159+21C>T (n.159+21C>T)
| gnomAD v4 |
5 | g.71719474G>A | CA120740057 | CARTPT | c.159+22G>A (n.159+22G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.71719474G= | CA1554416762 | CARTPT | c.159+22G= (n.159+22G=)
| |
5 | g.71719474G>T | CA3298287 | CARTPT | c.159+22G>T (n.159+22G>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.71719475_71719476delinsAC | CA1554416769 | CARTPT | c.159+23_159+24delinsAC (n.159+23_159+24delinsAC)
| |
5 | g.71719476C>G | CA2578331724 | CARTPT | c.159+24C>G (n.159+24C>G)
| |
5 | g.71719480dup | CA2832547347 | CARTPT | c.159+28dup (n.159+28dup)
| |
5 | g.71719480del | CA560375693 | CARTPT | c.159+28del (n.159+28del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.71719477C>A | CA120740058 | CARTPT | c.159+25C>A (n.159+25C>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.71719477C= | CA1554416776 | CARTPT | c.159+25C= (n.159+25C=)
| |
5 | g.71719477C>G | CA2766960271 | CARTPT | c.159+25C>G (n.159+25C>G)
| |
5 | g.71719477C>T | CA2571521278 | CARTPT | c.159+25C>T (n.159+25C>T)
| |
5 | g.71719479C>T | CA2674169249 | CARTPT | c.159+27C>T (n.159+27C>T)
| gnomAD v4 |
5 | g.71719480C= | CA1554416779 | CARTPT | c.159+28C= (n.159+28C=)
| |
5 | g.71719480C>T | CA3298288 | CARTPT | c.159+28C>T (n.159+28C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.71719482T>C | CA2674169250 | CARTPT | c.159+30T>C (n.159+30T>C)
| gnomAD v4 |
5 | g.71719482T>G | CA3298289 | CARTPT | c.159+30T>G (n.159+30T>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.71719482T= | CA1554416782 | CARTPT | c.159+30T= (n.159+30T=)
| |
5 | g.71719483G>C | CA2709255045 | CARTPT | c.159+31G>C (n.159+31G>C)
| dbSNP |
5 | g.71719483G>T | CA2674169251 | CARTPT | c.159+31G>T (n.159+31G>T)
| gnomAD v4 |
5 | g.71719484A>T | CA2578331725 | CARTPT | c.159+32A>T (n.159+32A>T)
| |