| 4 | g.87612509del | CA3000872 | DSPP | c.323del (p.Gly108AlafsTer?)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612508G>A | CA357603304 | DSPP | c.322G>A (p.Gly108Ser)
| COSMIC |
| 4 | g.87612508G>C | CA357603305 | DSPP | c.322G>C (p.Gly108Arg)
| |
| 4 | g.87612508G>T | CA357603306 | DSPP | c.322G>T (p.Gly108Cys)
| |
| 4 | g.87612509G>A | CA3000873 | DSPP | c.323G>A (p.Gly108Asp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612509G>C | CA357603308 | DSPP | c.323G>C (p.Gly108Ala)
| |
| 4 | g.87612509G= | CA1474384474 | DSPP | c.323G= (p.Gly108=)
| |
| 4 | g.87612509G>T | CA357603307 | DSPP | c.323G>T (p.Gly108Val)
| |
| 4 | g.87612510C>A | CA440294328 | DSPP | c.324C>A (p.Gly108=)
| gnomAD v4 |
| 4 | g.87612510C= | CA1474384475 | DSPP | c.324C= (p.Gly108=)
| |
| 4 | g.87612510C>G | CA440294329 | DSPP | c.324C>G (p.Gly108=)
| |
| 4 | g.87612510C>T | CA440294331 | DSPP | c.324C>T (p.Gly108=)
| dbSNP |
| 4 | g.87612511T>A | CA357603309 | DSPP | c.325T>A (p.Trp109Arg)
| |
| 4 | g.87612511T>C | CA357603311 | DSPP | c.325T>C (p.Trp109Arg)
| |
| 4 | g.87612511T>G | CA357603310 | DSPP | c.325T>G (p.Trp109Gly)
| |
| 4 | g.87612512G>A | CA357603312 | DSPP | c.326G>A (p.Trp109Ter)
| gnomAD v4 |
| 4 | g.87612512G>C | CA357603313 | DSPP | c.326G>C (p.Trp109Ser)
| |
| 4 | g.87612512G>T | CA357603314 | DSPP | c.326G>T (p.Trp109Leu)
| |
| 4 | g.87612513G>A | CA357603315 | DSPP | c.327G>A (p.Trp109Ter)
| COSMIC |
| 4 | g.87612513G>C | CA357603316 | DSPP | c.327G>C (p.Trp109Cys)
| |
| 4 | g.87612513G>T | CA357603317 | DSPP | c.327G>T (p.Trp109Cys)
| gnomAD v4 |
| 4 | g.87612514A>C | CA357603318 | DSPP | c.328A>C (p.Asn110His)
| |
| 4 | g.87612514A>G | CA357603319 | DSPP | c.328A>G (p.Asn110Asp)
| |
| 4 | g.87612514A>T | CA357603320 | DSPP | c.328A>T (p.Asn110Tyr)
| |
| 4 | g.87612515A>C | CA357603321 | DSPP | c.329A>C (p.Asn110Thr)
| |
| 4 | g.87612515A>G | CA357603322 | DSPP | c.329A>G (p.Asn110Ser)
| |
| 4 | g.87612515A>T | CA357603323 | DSPP | c.329A>T (p.Asn110Ile)
| |
| 4 | g.87612516T>A | CA357603325 | DSPP | c.330T>A (p.Asn110Lys)
| dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.87612516T>C | CA440294340 | DSPP | c.330T>C (p.Asn110=)
| gnomAD v4 |
| 4 | g.87612516T>G | CA357603324 | DSPP | c.330T>G (p.Asn110Lys)
| |
| 4 | g.87612516T= | CA1474384476 | DSPP | c.330T= (p.Asn110=)
| |
| 4 | g.87612517G>A | CA357603326 | DSPP | c.331G>A (p.Gly111Arg)
| |
| 4 | g.87612517G>C | CA357603327 | DSPP | c.331G>C (p.Gly111Arg)
| |
| 4 | g.87612517G>T | CA357603328 | DSPP | c.331G>T (p.Gly111Trp)
| |
| 4 | g.87612520del | CA2540060358 | DSPP | c.334del (p.Asp112ThrfsTer29)
| |
| 4 | g.87612518G>A | CA357603329 | DSPP | c.332G>A (p.Gly111Glu)
| dbSNP |
| 4 | g.87612518G>C | CA357603330 | DSPP | c.332G>C (p.Gly111Ala)
| |
| 4 | g.87612518G= | CA1474384477 | DSPP | c.332G= (p.Gly111=)
| |
| 4 | g.87612518G>T | CA357603331 | DSPP | c.332G>T (p.Gly111Val)
| |
| 4 | g.87612519G>A | CA440294344 | DSPP | c.333G>A (p.Gly111=)
| COSMIC |
| 4 | g.87612519G>C | CA440294346 | DSPP | c.333G>C (p.Gly111=)
| dbSNP gnomAD v4 |
| 4 | g.87612519G= | CA1474384478 | DSPP | c.333G= (p.Gly111=)
| |
| 4 | g.87612519G>T | CA440294347 | DSPP | c.333G>T (p.Gly111=)
| |
| 4 | g.87612520G>A | CA357603332 | DSPP | c.334G>A (p.Asp112Asn)
| |
| 4 | g.87612520G>C | CA357603333 | DSPP | c.334G>C (p.Asp112His)
| |
| 4 | g.87612520G>T | CA357603334 | DSPP | c.334G>T (p.Asp112Tyr)
| gnomAD v4 |
| 4 | g.87612521A>C | CA357603335 | DSPP | c.335A>C (p.Asp112Ala)
| |
| 4 | g.87612521A>G | CA357603336 | DSPP | c.335A>G (p.Asp112Gly)
| gnomAD v4 |
| 4 | g.87612521A>T | CA357603337 | DSPP | c.335A>T (p.Asp112Val)
| |
| 4 | g.87612522C>A | CA357603339 | DSPP | c.336C>A (p.Asp112Glu)
| |
| 4 | g.87612522C>G | CA357603338 | DSPP | c.336C>G (p.Asp112Glu)
| |
| 4 | g.87612522C>T | CA440294351 | DSPP | c.336C>T (p.Asp112=)
| |
| 4 | g.87612523A= | CA1474384479 | DSPP | c.337A= (p.Thr113=)
| |
| 4 | g.87612523A>C | CA357603340 | DSPP | c.337A>C (p.Thr113Pro)
| |
| 4 | g.87612523A>G | CA357603341 | DSPP | c.337A>G (p.Thr113Ala)
| dbSNP |
| 4 | g.87612523A>T | CA357603342 | DSPP | c.337A>T (p.Thr113Ser)
| |
| 4 | g.87612524C>A | CA357603343 | DSPP | c.338C>A (p.Thr113Lys)
| gnomAD v4 |
| 4 | g.87612524C= | CA1474384480 | DSPP | c.338C= (p.Thr113=)
| |
| 4 | g.87612524C>G | CA357603344 | DSPP | c.338C>G (p.Thr113Arg)
| |
| 4 | g.87612524C>T | CA3000874 | DSPP | c.338C>T (p.Thr113Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612525A= | CA1474384481 | DSPP | c.339A= (p.Thr113=)
| |
| 4 | g.87612525A>C | CA440294355 | DSPP | c.339A>C (p.Thr113=)
| |
| 4 | g.87612525A>G | CA3000875 | DSPP | c.339A>G (p.Thr113=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.87612525A>T | CA440294357 | DSPP | c.339A>T (p.Thr113=)
| |
| 4 | g.87612526G>A | CA3000876 | DSPP | c.340G>A (p.Gly114Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.87612526G>C | CA357603345 | DSPP | c.340G>C (p.Gly114Arg)
| |
| 4 | g.87612526G= | CA1474384482 | DSPP | c.340G= (p.Gly114=)
| |
| 4 | g.87612526G>T | CA357603346 | DSPP | c.340G>T (p.Gly114Ter)
| |
| 4 | g.87612527G>A | CA357603347 | DSPP | c.341G>A (p.Gly114Glu)
| COSMIC |
| 4 | g.87612527G>C | CA357603348 | DSPP | c.341G>C (p.Gly114Ala)
| |
| 4 | g.87612527G>T | CA357603349 | DSPP | c.341G>T (p.Gly114Val)
| |
| 4 | g.87612528A>C | CA440294365 | DSPP | c.342A>C (p.Gly114=)
| |
| 4 | g.87612528A>G | CA440294366 | DSPP | c.342A>G (p.Gly114=)
| |
| 4 | g.87612528A>T | CA440294367 | DSPP | c.342A>T (p.Gly114=)
| |
| 4 | g.87612529A= | CA1474384483 | DSPP | c.343A= (p.Lys115=)
| |
| 4 | g.87612529A>C | CA357603352 | DSPP | c.343A>C (p.Lys115Gln)
| dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.87612529A>G | CA357603350 | DSPP | c.343A>G (p.Lys115Glu)
| |
| 4 | g.87612529A>T | CA357603351 | DSPP | c.343A>T (p.Lys115Ter)
| |
| 4 | g.87612530A>C | CA357603353 | DSPP | c.344A>C (p.Lys115Thr)
| |
| 4 | g.87612530A>G | CA357603354 | DSPP | c.344A>G (p.Lys115Arg)
| |
| 4 | g.87612530A>T | CA357603355 | DSPP | c.344A>T (p.Lys115Ile)
| |
| 4 | g.87612531A= | CA1474384484 | DSPP | c.345A= (p.Lys115=)
| |
| 4 | g.87612531A>C | CA357603356 | DSPP | c.345A>C (p.Lys115Asn)
| |
| 4 | g.87612531A>G | CA3000877 | DSPP | c.345A>G (p.Lys115=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.87612531A>T | CA357603357 | DSPP | c.345A>T (p.Lys115Asn)
| dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.87612532G>A | CA357603358 | DSPP | c.346G>A (p.Ala116Thr)
| |
| 4 | g.87612532G>C | CA357603359 | DSPP | c.346G>C (p.Ala116Pro)
| |
| 4 | g.87612532G>T | CA357603360 | DSPP | c.346G>T (p.Ala116Ser)
| |
| 4 | g.87612533C>A | CA357603361 | DSPP | c.347C>A (p.Ala116Glu)
| |
| 4 | g.87612533C>G | CA357603362 | DSPP | c.347C>G (p.Ala116Gly)
| |
| 4 | g.87612533C>T | CA357603363 | DSPP | c.347C>T (p.Ala116Val)
| gnomAD v4 |
| 4 | g.87612534A>C | CA440294379 | DSPP | c.348A>C (p.Ala116=)
| |
| 4 | g.87612534A>G | CA440294381 | DSPP | c.348A>G (p.Ala116=)
| |
| 4 | g.87612534A>T | CA440294383 | DSPP | c.348A>T (p.Ala116=)
| |
| 4 | g.87612535G>A | CA357603366 | DSPP | c.349G>A (p.Glu117Lys)
| dbSNP |
| 4 | g.87612535G>C | CA357603365 | DSPP | c.349G>C (p.Glu117Gln)
| |
| 4 | g.87612535G= | CA1474384485 | DSPP | c.349G= (p.Glu117=)
| |
| 4 | g.87612535G>T | CA357603364 | DSPP | c.349G>T (p.Glu117Ter)
| |
| 4 | g.87612536A>C | CA357603367 | DSPP | c.350A>C (p.Glu117Ala)
| |
| 4 | g.87612536A>G | CA357603369 | DSPP | c.350A>G (p.Glu117Gly)
| |
| 4 | g.87612536A>T | CA357603368 | DSPP | c.350A>T (p.Glu117Val)
| |
| 4 | g.87612537A= | CA1474384486 | DSPP | c.351A= (p.Glu117=)
| |
| 4 | g.87612537A>C | CA357603370 | DSPP | c.351A>C (p.Glu117Asp)
| dbSNP gnomAD v4 |
| 4 | g.87612537A>G | CA440294069 | DSPP | c.351A>G (p.Glu117=)
| |
| 4 | g.87612537A>T | CA357603371 | DSPP | c.351A>T (p.Glu117Asp)
| |
| 4 | g.87612538A>C | CA357603372 | DSPP | c.352A>C (p.Thr118Pro)
| |
| 4 | g.87612538A>G | CA357603374 | DSPP | c.352A>G (p.Thr118Ala)
| |
| 4 | g.87612538A>T | CA357603373 | DSPP | c.352A>T (p.Thr118Ser)
| |
| 4 | g.87612539C>A | CA357603375 | DSPP | c.353C>A (p.Thr118Lys)
| |
| 4 | g.87612539C= | CA1474384487 | DSPP | c.353C= (p.Thr118=)
| |
| 4 | g.87612539C>G | CA357603376 | DSPP | c.353C>G (p.Thr118Arg)
| |
| 4 | g.87612539C>T | CA3000878 | DSPP | c.353C>T (p.Thr118Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612539_87612541delinsCAT | CA1474384488 | DSPP | c.353_355delinsCAT (p.Thr118=)
| |
| 4 | g.87612540A= | CA1474384489 | DSPP | c.354A= (p.Thr118=)
| |
| 4 | g.87612540A>C | CA440294075 | DSPP | c.354A>C (p.Thr118=)
| |
| 4 | g.87612540A>G | CA440294077 | DSPP | c.354A>G (p.Thr118=)
| dbSNP gnomAD v4 |
| 4 | g.87612540A>T | CA440294078 | DSPP | c.354A>T (p.Thr118=)
| |
| 4 | g.87612542_87612543del | CA553085319 | DSPP | c.356_357del (p.Tyr119TrpfsTer3)
| dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.87612541T>A | CA357603377 | DSPP | c.355T>A (p.Tyr119Asn)
| |
| 4 | g.87612541T>C | CA357603381 | DSPP | c.355T>C (p.Tyr119His)
| gnomAD v3 gnomAD v4 |
| 4 | g.87612541T>G | CA357603379 | DSPP | c.355T>G (p.Tyr119Asp)
| |
| 4 | g.87612542A= | CA1474384490 | DSPP | c.356A= (p.Tyr119=)
| |
| 4 | g.87612542A>C | CA357603382 | DSPP | c.356A>C (p.Tyr119Ser)
| |
| 4 | g.87612542A>G | CA357603383 | DSPP | c.356A>G (p.Tyr119Cys)
| dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.87612542A>T | CA357603384 | DSPP | c.356A>T (p.Tyr119Phe)
| |
| 4 | g.87612543T>A | CA3000879 | DSPP | c.357T>A (p.Tyr119Ter)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.87612543T>C | CA440294082 | DSPP | c.357T>C (p.Tyr119=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.87612543T>G | CA357603385 | DSPP | c.357T>G (p.Tyr119Ter)
| gnomAD v4 |
| 4 | g.87612543T= | CA1474384491 | DSPP | c.357T= (p.Tyr119=)
| |
| 4 | g.87612543_87612544delinsTG | CA1474384492 | DSPP | c.357_358delinsTG (p.Tyr119=)
| |
| 4 | g.87612544G>A | CA357603386 | DSPP | c.358G>A (p.Gly120Ser)
| |
| 4 | g.87612544G>C | CA357603387 | DSPP | c.358G>C (p.Gly120Arg)
| |
| 4 | g.87612544G>T | CA357603388 | DSPP | c.358G>T (p.Gly120Cys)
| gnomAD v4 |
| 4 | g.87612545del | CA553085320 | DSPP | c.359del (p.Gly120ValfsTer21)
| dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.87612545G>A | CA3000880 | DSPP | c.359G>A (p.Gly120Asp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.87612545G>C | CA357603389 | DSPP | c.359G>C (p.Gly120Ala)
| |
| 4 | g.87612545G= | CA1474384493 | DSPP | c.359G= (p.Gly120=)
| |
| 4 | g.87612545G>T | CA357603391 | DSPP | c.359G>T (p.Gly120Val)
| |
| 4 | g.87612546T>A | CA440294085 | DSPP | c.360T>A (p.Gly120=)
| gnomAD v4 |
| 4 | g.87612546T>C | CA440294087 | DSPP | c.360T>C (p.Gly120=)
| |
| 4 | g.87612546T>G | CA440294088 | DSPP | c.360T>G (p.Gly120=)
| dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.87612547C>A | CA357603392 | DSPP | c.361C>A (p.His121Asn)
| gnomAD v4 |
| 4 | g.87612547C>G | CA357603395 | DSPP | c.361C>G (p.His121Asp)
| |
| 4 | g.87612547C>T | CA357603393 | DSPP | c.361C>T (p.His121Tyr)
| |
| 4 | g.87612548A= | CA1474384494 | DSPP | c.362A= (p.His121=)
| |
| 4 | g.87612548A>C | CA357603396 | DSPP | c.362A>C (p.His121Pro)
| dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.87612548A>G | CA357603397 | DSPP | c.362A>G (p.His121Arg)
| |
| 4 | g.87612548A>T | CA357603398 | DSPP | c.362A>T (p.His121Leu)
| |
| 4 | g.87612549T>A | CA357603399 | DSPP | c.363T>A (p.His121Gln)
| |
| 4 | g.87612549T>C | CA3000881 | DSPP | c.363T>C (p.His121=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612549T>G | CA357603400 | DSPP | c.363T>G (p.His121Gln)
| |
| 4 | g.87612549T= | CA1474384495 | DSPP | c.363T= (p.His121=)
| |
| 4 | g.87612550G>A | CA357603401 | DSPP | c.364G>A (p.Asp122Asn)
| COSMIC |
| 4 | g.87612550G>C | CA357603402 | DSPP | c.364G>C (p.Asp122His)
| |
| 4 | g.87612550G>T | CA357603403 | DSPP | c.364G>T (p.Asp122Tyr)
| gnomAD v4 |
| 4 | g.87612551A>C | CA357603405 | DSPP | c.365A>C (p.Asp122Ala)
| |
| 4 | g.87612551A>G | CA357603406 | DSPP | c.365A>G (p.Asp122Gly)
| gnomAD v4 |
| 4 | g.87612551A>T | CA357603404 | DSPP | c.365A>T (p.Asp122Val)
| |
| 4 | g.87612552T>A | CA357603407 | DSPP | c.366T>A (p.Asp122Glu)
| |
| 4 | g.87612552T>C | CA440294092 | DSPP | c.366T>C (p.Asp122=)
| dbSNP |
| 4 | g.87612552T>G | CA357603408 | DSPP | c.366T>G (p.Asp122Glu)
| |
| 4 | g.87612552T= | CA1474384496 | DSPP | c.366T= (p.Asp122=)
| |
| 4 | g.87612553G>A | CA357603409 | DSPP | c.367G>A (p.Gly123Arg)
| |
| 4 | g.87612553G>C | CA357603410 | DSPP | c.367G>C (p.Gly123Arg)
| |
| 4 | g.87612553G= | CA1474384498 | DSPP | c.367G= (p.Gly123=)
| |
| 4 | g.87612553G>T | CA357603411 | DSPP | c.367G>T (p.Gly123Ter)
| |
| 4 | g.87612553_87612557delinsGGAAT | CA1474384497 | DSPP | c.367_371delinsGGAAT (p.Gly123=)
| |
| 4 | g.87612553_87612554insAACATATGTTCATCATGGGAAAGAA | CA3000882 | DSPP | c.367_368insAACATATGTTCATCATGGGAAAGAA (p.Gly123GlufsTer30)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612554G>A | CA357603412 | DSPP | c.368G>A (p.Gly123Glu)
| dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.87612554G>C | CA3000883 | DSPP | c.368G>C (p.Gly123Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612554G= | CA1474384499 | DSPP | c.368G= (p.Gly123=)
| |
| 4 | g.87612554G>T | CA357603413 | DSPP | c.368G>T (p.Gly123Val)
| |
| 4 | g.87612554_87612557delinsAACATATGTTCATCATGGGAAAGAAGAAA | CA916082649 | DSPP | c.368_371delinsAACATATGTTCATCATGGGAAAGAAGAAA (p.Gly123GlufsTer30)
| ClinVar dbSNP |
| 4 | g.87612555A>C | CA440294097 | DSPP | c.369A>C (p.Gly123=)
| COSMIC |
| 4 | g.87612555A>G | CA440294098 | DSPP | c.369A>G (p.Gly123=)
| |
| 4 | g.87612555A>T | CA440294100 | DSPP | c.369A>T (p.Gly123=)
| |
| 4 | g.87612555_87612556insC | CA2578139835 | DSPP | c.369_370insC (p.Ile124HisfsTer21)
| |
| 4 | g.87612556A>C | CA357603414 | DSPP | c.370A>C (p.Ile124Leu)
| |
| 4 | g.87612556A>G | CA357603415 | DSPP | c.370A>G (p.Ile124Val)
| |
| 4 | g.87612556A>T | CA357603416 | DSPP | c.370A>T (p.Ile124Leu)
| |
| 4 | g.87612557T>A | CA3000884 | DSPP | c.371T>A (p.Ile124Lys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612557T>C | CA357603417 | DSPP | c.371T>C (p.Ile124Thr)
| |
| 4 | g.87612557T>G | CA357603418 | DSPP | c.371T>G (p.Ile124Arg)
| |
| 4 | g.87612557T= | CA1474384500 | DSPP | c.371T= (p.Ile124=)
| |
| 4 | g.87612558A>C | CA440294103 | DSPP | c.372A>C (p.Ile124=)
| |
| 4 | g.87612558A>G | CA357603419 | DSPP | c.372A>G (p.Ile124Met)
| |
| 4 | g.87612558A>T | CA440294104 | DSPP | c.372A>T (p.Ile124=)
| |
| 4 | g.87612558_87612559insTGTTCAT | CA2578139836 | DSPP | c.372_373insTGTTCAT (p.His125CysfsTer22)
| |
| 4 | g.87612559C>A | CA357603420 | DSPP | c.373C>A (p.His125Asn)
| |
| 4 | g.87612559C= | CA1474384501 | DSPP | c.373C= (p.His125=)
| |
| 4 | g.87612559C>G | CA357603421 | DSPP | c.373C>G (p.His125Asp)
| |
| 4 | g.87612559C>T | CA357603422 | DSPP | c.373C>T (p.His125Tyr)
| dbSNP gnomAD v4 |
| 4 | g.87612560A>C | CA357603423 | DSPP | c.374A>C (p.His125Pro)
| |
| 4 | g.87612560A>G | CA357603424 | DSPP | c.374A>G (p.His125Arg)
| |
| 4 | g.87612560A>T | CA357603425 | DSPP | c.374A>T (p.His125Leu)
| |
| 4 | g.87612561T>A | CA357603426 | DSPP | c.375T>A (p.His125Gln)
| |
| 4 | g.87612561T>C | CA440294110 | DSPP | c.375T>C (p.His125=)
| dbSNP gnomAD v2 |
| 4 | g.87612561T>G | CA357603427 | DSPP | c.375T>G (p.His125Gln)
| |
| 4 | g.87612561T= | CA1474384502 | DSPP | c.375T= (p.His125=)
| |
| 4 | g.87612562G>A | CA357603428 | DSPP | c.376G>A (p.Gly126Arg)
| |
| 4 | g.87612562G>C | CA357603429 | DSPP | c.376G>C (p.Gly126Arg)
| |
| 4 | g.87612562G>T | CA357603430 | DSPP | c.376G>T (p.Gly126Trp)
| |
| 4 | g.87612563G>A | CA357603433 | DSPP | c.377G>A (p.Gly126Glu)
| gnomAD v4 |
| 4 | g.87612563G>C | CA357603432 | DSPP | c.377G>C (p.Gly126Ala)
| dbSNP gnomAD v4 |
| 4 | g.87612563G= | CA1474384503 | DSPP | c.377G= (p.Gly126=)
| |
| 4 | g.87612563G>T | CA357603431 | DSPP | c.377G>T (p.Gly126Val)
| |
| 4 | g.87612564G>A | CA440294116 | DSPP | c.378G>A (p.Gly126=)
| |
| 4 | g.87612564G>C | CA440294117 | DSPP | c.378G>C (p.Gly126=)
| |
| 4 | g.87612564G>T | CA440294118 | DSPP | c.378G>T (p.Gly126=)
| COSMIC |
| 4 | g.87612565A>C | CA357603434 | DSPP | c.379A>C (p.Lys127Gln)
| |
| 4 | g.87612565A>G | CA357603436 | DSPP | c.379A>G (p.Lys127Glu)
| |
| 4 | g.87612565A>T | CA357603435 | DSPP | c.379A>T (p.Lys127Ter)
| |
| 4 | g.87612566A= | CA1474384504 | DSPP | c.380A= (p.Lys127=)
| |
| 4 | g.87612566A>C | CA357603437 | DSPP | c.380A>C (p.Lys127Thr)
| |
| 4 | g.87612566A>G | CA357603438 | DSPP | c.380A>G (p.Lys127Arg)
| dbSNP |
| 4 | g.87612566A>T | CA357603439 | DSPP | c.380A>T (p.Lys127Ile)
| |
| 4 | g.87612567A= | CA1474384505 | DSPP | c.381A= (p.Lys127=)
| |
| 4 | g.87612567A>C | CA357603440 | DSPP | c.381A>C (p.Lys127Asn)
| |
| 4 | g.87612567A>G | CA440294122 | DSPP | c.381A>G (p.Lys127=)
| dbSNP |
| 4 | g.87612567A>T | CA357603441 | DSPP | c.381A>T (p.Lys127Asn)
| |
| 4 | g.87612568G>A | CA357603442 | DSPP | c.382G>A (p.Glu128Lys)
| |
| 4 | g.87612568G>C | CA357603443 | DSPP | c.382G>C (p.Glu128Gln)
| |
| 4 | g.87612568G>T | CA357603444 | DSPP | c.382G>T (p.Glu128Ter)
| ClinVar gnomAD v4 |
| 4 | g.87612569A>C | CA357603445 | DSPP | c.383A>C (p.Glu128Ala)
| |
| 4 | g.87612569A>G | CA357603446 | DSPP | c.383A>G (p.Glu128Gly)
| |
| 4 | g.87612569A>T | CA357603447 | DSPP | c.383A>T (p.Glu128Val)
| |
| 4 | g.87612570A>C | CA357603449 | DSPP | c.384A>C (p.Glu128Asp)
| |
| 4 | g.87612570A>G | CA440294124 | DSPP | c.384A>G (p.Glu128=)
| |
| 4 | g.87612570A>T | CA357603448 | DSPP | c.384A>T (p.Glu128Asp)
| |
| 4 | g.87612571G>A | CA357603450 | DSPP | c.385G>A (p.Glu129Lys)
| |
| 4 | g.87612571G>C | CA357603451 | DSPP | c.385G>C (p.Glu129Gln)
| |
| 4 | g.87612571G>T | CA357603452 | DSPP | c.385G>T (p.Glu129Ter)
| COSMIC |
| 4 | g.87612572A= | CA1474384506 | DSPP | c.386A= (p.Glu129=)
| |
| 4 | g.87612572A>C | CA357603453 | DSPP | c.386A>C (p.Glu129Ala)
| |
| 4 | g.87612572A>G | CA357603454 | DSPP | c.386A>G (p.Glu129Gly)
| dbSNP |
| 4 | g.87612572A>T | CA357603455 | DSPP | c.386A>T (p.Glu129Val)
| |
| 4 | g.87612575dup | CA2671358392 | DSPP | c.389dup (p.Asn130LysfsTer15)
| gnomAD v4 |
| 4 | g.87612573A>C | CA357603456 | DSPP | c.387A>C (p.Glu129Asp)
| |
| 4 | g.87612573A>G | CA440294127 | DSPP | c.387A>G (p.Glu129=)
| |
| 4 | g.87612573A>T | CA357603457 | DSPP | c.387A>T (p.Glu129Asp)
| |
| 4 | g.87612574A>C | CA357603458 | DSPP | c.388A>C (p.Asn130His)
| |
| 4 | g.87612574A>G | CA357603459 | DSPP | c.388A>G (p.Asn130Asp)
| |
| 4 | g.87612574A>T | CA357603460 | DSPP | c.388A>T (p.Asn130Tyr)
| gnomAD v4 |
| 4 | g.87612575A>C | CA357603462 | DSPP | c.389A>C (p.Asn130Thr)
| |
| 4 | g.87612575A>G | CA357603463 | DSPP | c.389A>G (p.Asn130Ser)
| |
| 4 | g.87612575A>T | CA357603461 | DSPP | c.389A>T (p.Asn130Ile)
| |
| 4 | g.87612576C>A | CA357603464 | DSPP | c.390C>A (p.Asn130Lys)
| |
| 4 | g.87612576C>G | CA357603465 | DSPP | c.390C>G (p.Asn130Lys)
| |
| 4 | g.87612576C>T | CA440294129 | DSPP | c.390C>T (p.Asn130=)
| |
| 4 | g.87612577A= | CA1474384508 | DSPP | c.391A= (p.Ile131=)
| |
| 4 | g.87612577A>C | CA3000886 | DSPP | c.391A>C (p.Ile131Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.87612577A>G | CA357603466 | DSPP | c.391A>G (p.Ile131Val)
| gnomAD v4 |
| 4 | g.87612577A>T | CA357603467 | DSPP | c.391A>T (p.Ile131Phe)
| dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.87612577_87612578delinsAT | CA1474384507 | DSPP | c.391_392delinsAT (p.Ile131=)
| |
| 4 | g.87612578del | CA3000885 | DSPP | c.392del (p.Ile131ThrfsTer10)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612578T>A | CA357603469 | DSPP | c.392T>A (p.Ile131Asn)
| |
| 4 | g.87612578T>C | CA3000887 | DSPP | c.392T>C (p.Ile131Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612578T>G | CA357603468 | DSPP | c.392T>G (p.Ile131Ser)
| |
| 4 | g.87612578T= | CA1474384510 | DSPP | c.392T= (p.Ile131=)
| |
| 4 | g.87612578dup | CA1474384509 | DSPP | c.392dup (p.Thr132HisfsTer13)
| dbSNP |
| 4 | g.87612579C>A | CA440294134 | DSPP | c.393C>A (p.Ile131=)
| |
| 4 | g.87612579C>G | CA357603470 | DSPP | c.393C>G (p.Ile131Met)
| |
| 4 | g.87612579C>T | CA440294135 | DSPP | c.393C>T (p.Ile131=)
| |
| 4 | g.87612580A>C | CA357603471 | DSPP | c.394A>C (p.Thr132Pro)
| |
| 4 | g.87612580A>G | CA357603472 | DSPP | c.394A>G (p.Thr132Ala)
| |
| 4 | g.87612580A>T | CA357603473 | DSPP | c.394A>T (p.Thr132Ser)
| |
| 4 | g.87612581C>A | CA357603474 | DSPP | c.395C>A (p.Thr132Lys)
| |
| 4 | g.87612581C= | CA1474384511 | DSPP | c.395C= (p.Thr132=)
| |
| 4 | g.87612581C>G | CA357603476 | DSPP | c.395C>G (p.Thr132Arg)
| dbSNP gnomAD v4 |
| 4 | g.87612581C>T | CA357603475 | DSPP | c.395C>T (p.Thr132Ile)
| |
| 4 | g.87612582A>C | CA440294137 | DSPP | c.396A>C (p.Thr132=)
| |
| 4 | g.87612582A>G | CA440294139 | DSPP | c.396A>G (p.Thr132=)
| |
| 4 | g.87612582A>T | CA440294138 | DSPP | c.396A>T (p.Thr132=)
| |
| 4 | g.87612583G>A | CA357603477 | DSPP | c.397G>A (p.Ala133Thr)
| dbSNP |
| 4 | g.87612583G>C | CA357603478 | DSPP | c.397G>C (p.Ala133Pro)
| |
| 4 | g.87612583G= | CA1474384512 | DSPP | c.397G= (p.Ala133=)
| |
| 4 | g.87612583G>T | CA357603479 | DSPP | c.397G>T (p.Ala133Ser)
| |
| 4 | g.87612584C>A | CA3000888 | DSPP | c.398C>A (p.Ala133Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612584C= | CA1474384513 | DSPP | c.398C= (p.Ala133=)
| |
| 4 | g.87612584C>G | CA357603480 | DSPP | c.398C>G (p.Ala133Gly)
| |
| 4 | g.87612584C>T | CA357603481 | DSPP | c.398C>T (p.Ala133Val)
| dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.87612585A>C | CA440294144 | DSPP | c.399A>C (p.Ala133=)
| gnomAD v4 |
| 4 | g.87612585A>G | CA440294145 | DSPP | c.399A>G (p.Ala133=)
| |
| 4 | g.87612585A>T | CA440294146 | DSPP | c.399A>T (p.Ala133=)
| |
| 4 | g.87612586A= | CA1474384514 | DSPP | c.400A= (p.Asn134=)
| |
| 4 | g.87612586A>C | CA3000889 | DSPP | c.400A>C (p.Asn134His)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.87612586A>G | CA357603482 | DSPP | c.400A>G (p.Asn134Asp)
| |
| 4 | g.87612586A>T | CA357603483 | DSPP | c.400A>T (p.Asn134Tyr)
| |
| 4 | g.87612587A>C | CA357603484 | DSPP | c.401A>C (p.Asn134Thr)
| |
| 4 | g.87612587A>G | CA357603485 | DSPP | c.401A>G (p.Asn134Ser)
| |
| 4 | g.87612587A>T | CA357603486 | DSPP | c.401A>T (p.Asn134Ile)
| |
| 4 | g.87612588T>A | CA357603488 | DSPP | c.402T>A (p.Asn134Lys)
| gnomAD v4 |
| 4 | g.87612588T>C | CA440294154 | DSPP | c.402T>C (p.Asn134=)
| gnomAD v4 |
| 4 | g.87612588T>G | CA357603487 | DSPP | c.402T>G (p.Asn134Lys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612588T= | CA1474384515 | DSPP | c.402T= (p.Asn134=)
| |
| 4 | g.87612589G>A | CA357603489 | DSPP | c.403G>A (p.Gly135Ser)
| dbSNP gnomAD v4 |
| 4 | g.87612589G>C | CA357603491 | DSPP | c.403G>C (p.Gly135Arg)
| dbSNP |
| 4 | g.87612589G= | CA1474384516 | DSPP | c.403G= (p.Gly135=)
| |
| 4 | g.87612589G>T | CA357603490 | DSPP | c.403G>T (p.Gly135Cys)
| |
| 4 | g.87612590G>A | CA357603492 | DSPP | c.404G>A (p.Gly135Asp)
| gnomAD v4 COSMIC |
| 4 | g.87612590G>C | CA357603494 | DSPP | c.404G>C (p.Gly135Ala)
| |
| 4 | g.87612590G>T | CA357603493 | DSPP | c.404G>T (p.Gly135Val)
| |
| 4 | g.87612591C>A | CA440294158 | DSPP | c.405C>A (p.Gly135=)
| |
| 4 | g.87612591C>G | CA440294157 | DSPP | c.405C>G (p.Gly135=)
| |
| 4 | g.87612591C>T | CA440294156 | DSPP | c.405C>T (p.Gly135=)
| |
| 4 | g.87612592A= | CA1474384517 | DSPP | c.406A= (p.Ile136=)
| |
| 4 | g.87612592A>C | CA357603495 | DSPP | c.406A>C (p.Ile136Leu)
| |
| 4 | g.87612592A>G | CA357603496 | DSPP | c.406A>G (p.Ile136Val)
| |
| 4 | g.87612592A>T | CA357603497 | DSPP | c.406A>T (p.Ile136Phe)
| dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.87612593T>A | CA357603498 | DSPP | c.407T>A (p.Ile136Asn)
| |
| 4 | g.87612593T>C | CA357603499 | DSPP | c.407T>C (p.Ile136Thr)
| |
| 4 | g.87612593T>G | CA357603500 | DSPP | c.407T>G (p.Ile136Ser)
| |
| 4 | g.87612594C>A | CA440294160 | DSPP | c.408C>A (p.Ile136=)
| |
| 4 | g.87612594C= | CA1474384518 | DSPP | c.408C= (p.Ile136=)
| |
| 4 | g.87612594C>G | CA357603501 | DSPP | c.408C>G (p.Ile136Met)
| |
| 4 | g.87612594C>T | CA440294162 | DSPP | c.408C>T (p.Ile136=)
| dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.87612595C>A | CA357603502 | DSPP | c.409C>A (p.Gln137Lys)
| |
| 4 | g.87612595C>G | CA357603503 | DSPP | c.409C>G (p.Gln137Glu)
| |
| 4 | g.87612595C>T | CA357603504 | DSPP | c.409C>T (p.Gln137Ter)
| gnomAD v4 |
| 4 | g.87612596A>C | CA357603507 | DSPP | c.410A>C (p.Gln137Pro)
| |
| 4 | g.87612596A>G | CA357603506 | DSPP | c.410A>G (p.Gln137Arg)
| |
| 4 | g.87612596A>T | CA357603505 | DSPP | c.410A>T (p.Gln137Leu)
| |
| 4 | g.87612597G>A | CA440294164 | DSPP | c.411G>A (p.Gln137=)
| |
| 4 | g.87612597G>C | CA357603508 | DSPP | c.411G>C (p.Gln137His)
| |
| 4 | g.87612597G>T | CA357603509 | DSPP | c.411G>T (p.Gln137His)
| |
| 4 | g.87612598G>A | CA3000890 | DSPP | c.412G>A (p.Gly138Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612598G>C | CA357603510 | DSPP | c.412G>C (p.Gly138Arg)
| |
| 4 | g.87612598G= | CA1474384519 | DSPP | c.412G= (p.Gly138=)
| |
| 4 | g.87612598G>T | CA357603511 | DSPP | c.412G>T (p.Gly138Ter)
| |
| 4 | g.87612598_87612599insACACCACTTTCTTTGAT | CA1474384520 | DSPP | c.412_413insACACCACTTTCTTTGAT (p.Gly138AspfsTer9)
| dbSNP |
| 4 | g.87612599G>A | CA357603512 | DSPP | c.413G>A (p.Gly138Glu)
| |
| 4 | g.87612599G>C | CA357603513 | DSPP | c.413G>C (p.Gly138Ala)
| |
| 4 | g.87612599G>T | CA357603514 | DSPP | c.413G>T (p.Gly138Val)
| |
| 4 | g.87612600A>C | CA440294169 | DSPP | c.414A>C (p.Gly138=)
| |
| 4 | g.87612600A>G | CA440294170 | DSPP | c.414A>G (p.Gly138=)
| |
| 4 | g.87612600A>T | CA440294171 | DSPP | c.414A>T (p.Gly138=)
| |
| 4 | g.87612601C>A | CA3000891 | DSPP | c.415C>A (p.Gln139Lys)
| dbSNP ExAC gnomAD v4 |
| 4 | g.87612601C= | CA1474384521 | DSPP | c.415C= (p.Gln139=)
| |
| 4 | g.87612601C>G | CA357603515 | DSPP | c.415C>G (p.Gln139Glu)
| |
| 4 | g.87612601C>T | CA357603516 | DSPP | c.415C>T (p.Gln139Ter)
| dbSNP gnomAD v4 |
| 4 | g.87612602A>C | CA357603518 | DSPP | c.416A>C (p.Gln139Pro)
| |
| 4 | g.87612602A>G | CA357603519 | DSPP | c.416A>G (p.Gln139Arg)
| |
| 4 | g.87612602A>T | CA357603517 | DSPP | c.416A>T (p.Gln139Leu)
| |
| 4 | g.87612605_87612608del | CA2671358393 | DSPP | c.419_422del (p.Val140AlafsTer?)
| gnomAD v4 |
| 4 | g.87612603A>C | CA357603520 | DSPP | c.417A>C (p.Gln139His)
| |
| 4 | g.87612603A>G | CA440294174 | DSPP | c.417A>G (p.Gln139=)
| |
| 4 | g.87612603A>T | CA357603521 | DSPP | c.417A>T (p.Gln139His)
| |
| 4 | g.87612604G>A | CA357603522 | DSPP | c.418G>A (p.Val140Ile)
| |
| 4 | g.87612604G>C | CA357603523 | DSPP | c.418G>C (p.Val140Leu)
| |
| 4 | g.87612604G= | CA1474384522 | DSPP | c.418G= (p.Val140=)
| |
| 4 | g.87612604G>T | CA357603524 | DSPP | c.418G>T (p.Val140Leu)
| dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.87612605T>A | CA357603525 | DSPP | c.419T>A (p.Val140Glu)
| |
| 4 | g.87612605T>C | CA357603526 | DSPP | c.419T>C (p.Val140Ala)
| |
| 4 | g.87612605T>G | CA357603527 | DSPP | c.419T>G (p.Val140Gly)
| |
| 4 | g.87612606A>C | CA440294179 | DSPP | c.420A>C (p.Val140=)
| |
| 4 | g.87612606A>G | CA440294178 | DSPP | c.420A>G (p.Val140=)
| |
| 4 | g.87612606A>T | CA440294177 | DSPP | c.420A>T (p.Val140=)
| |
| 4 | g.87612607A>C | CA357603528 | DSPP | c.421A>C (p.Ser141Arg)
| |
| 4 | g.87612607A>G | CA357603529 | DSPP | c.421A>G (p.Ser141Gly)
| gnomAD v4 |
| 4 | g.87612607A>T | CA357603530 | DSPP | c.421A>T (p.Ser141Cys)
| |
| 4 | g.87612608G>A | CA357603532 | DSPP | c.422G>A (p.Ser141Asn)
| |
| 4 | g.87612608G>C | CA357603533 | DSPP | c.422G>C (p.Ser141Thr)
| |
| 4 | g.87612608G>T | CA357603531 | DSPP | c.422G>T (p.Ser141Ile)
| |
