| 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)
| |
| 4 | g.87612609C>A | CA357603534 | DSPP | c.423C>A (p.Ser141Arg)
| |
| 4 | g.87612609C= | CA1474384523 | DSPP | c.423C= (p.Ser141=)
| |
| 4 | g.87612609C>G | CA357603535 | DSPP | c.423C>G (p.Ser141Arg)
| gnomAD v4 |
| 4 | g.87612609C>T | CA3000892 | DSPP | c.423C>T (p.Ser141=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612610A>C | CA357603536 | DSPP | c.424A>C (p.Ile142Leu)
| gnomAD v4 |
| 4 | g.87612610A>G | CA357603537 | DSPP | c.424A>G (p.Ile142Val)
| |
| 4 | g.87612610A>T | CA357603538 | DSPP | c.424A>T (p.Ile142Phe)
| COSMIC |
| 4 | g.87612611T>A | CA357603539 | DSPP | c.425T>A (p.Ile142Asn)
| |
| 4 | g.87612611T>C | CA3000893 | DSPP | c.425T>C (p.Ile142Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612611T>G | CA357603540 | DSPP | c.425T>G (p.Ile142Ser)
| |
| 4 | g.87612611T= | CA1474384524 | DSPP | c.425T= (p.Ile142=)
| |
| 4 | g.87612612C>A | CA440294187 | DSPP | c.426C>A (p.Ile142=)
| |
| 4 | g.87612612C>G | CA357603541 | DSPP | c.426C>G (p.Ile142Met)
| |
| 4 | g.87612612C>T | CA440294189 | DSPP | c.426C>T (p.Ile142=)
| |
| 4 | g.87612613A>C | CA357603542 | DSPP | c.427A>C (p.Ile143Leu)
| |
| 4 | g.87612613A>G | CA357603543 | DSPP | c.427A>G (p.Ile143Val)
| |
| 4 | g.87612613A>T | CA357603544 | DSPP | c.427A>T (p.Ile143Phe)
| |
| 4 | g.87612614T>A | CA357603546 | DSPP | c.428T>A (p.Ile143Asn)
| |
| 4 | g.87612614T>C | CA3000894 | DSPP | c.428T>C (p.Ile143Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612614T>G | CA357603545 | DSPP | c.428T>G (p.Ile143Ser)
| |
| 4 | g.87612614T= | CA1474384525 | DSPP | c.428T= (p.Ile143=)
| |
| 4 | g.87612614_87612615insGACCATA | CA2515735030 | DSPP | c.428_429insGACCATA (p.Ile143MetfsTer4)
| |
| 4 | g.87612615T>A | CA440294193 | DSPP | c.429T>A (p.Ile143=)
| |
| 4 | g.87612615T>C | CA440294194 | DSPP | c.429T>C (p.Ile143=)
| dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.87612615T>G | CA357603547 | DSPP | c.429T>G (p.Ile143Met)
| |
| 4 | g.87612615T= | CA1474384526 | DSPP | c.429T= (p.Ile143=)
| |
| 4 | g.87612616G>A | CA357603548 | DSPP | c.430G>A (p.Asp144Asn)
| |
| 4 | g.87612616G>C | CA3000895 | DSPP | c.430G>C (p.Asp144His)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.87612616G= | CA1474384527 | DSPP | c.430G= (p.Asp144=)
| |
| 4 | g.87612616G>T | CA357603549 | DSPP | c.430G>T (p.Asp144Tyr)
| |
| 4 | g.87612617A>C | CA357603550 | DSPP | c.431A>C (p.Asp144Ala)
| |
| 4 | g.87612617A>G | CA357603551 | DSPP | c.431A>G (p.Asp144Gly)
| |
| 4 | g.87612617A>T | CA357603552 | DSPP | c.431A>T (p.Asp144Val)
| |
| 4 | g.87612618C>A | CA357603554 | DSPP | c.432C>A (p.Asp144Glu)
| |
| 4 | g.87612618C>G | CA357603553 | DSPP | c.432C>G (p.Asp144Glu)
| |
| 4 | g.87612618C>T | CA440294197 | DSPP | c.432C>T (p.Asp144=)
| |
| 4 | g.87612619A>C | CA357603555 | DSPP | c.433A>C (p.Asn145His)
| |
| 4 | g.87612619A>G | CA357603556 | DSPP | c.433A>G (p.Asn145Asp)
| ClinVar gnomAD v4 |
| 4 | g.87612619A>T | CA357603557 | DSPP | c.433A>T (p.Asn145Tyr)
| |
| 4 | g.87612620A>C | CA357603558 | DSPP | c.434A>C (p.Asn145Thr)
| |
| 4 | g.87612620A>G | CA357603559 | DSPP | c.434A>G (p.Asn145Ser)
| |
| 4 | g.87612620A>T | CA357603560 | DSPP | c.434A>T (p.Asn145Ile)
| |
| 4 | g.87612621T>A | CA357603561 | DSPP | c.435T>A (p.Asn145Lys)
| |
| 4 | g.87612621T>C | CA3000896 | DSPP | c.435T>C (p.Asn145=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612621T>G | CA357603562 | DSPP | c.435T>G (p.Asn145Lys)
| gnomAD v4 |
| 4 | g.87612621T= | CA1474384528 | DSPP | c.435T= (p.Asn145=)
| |
| 4 | g.87612622G>A | CA357603563 | DSPP | c.436G>A (p.Ala146Thr)
| gnomAD v4 |
| 4 | g.87612622G>C | CA357603564 | DSPP | c.436G>C (p.Ala146Pro)
| gnomAD v4 |
| 4 | g.87612622G= | CA1474384529 | DSPP | c.436G= (p.Ala146=)
| |
| 4 | g.87612622G>T | CA357603565 | DSPP | c.436G>T (p.Ala146Ser)
| dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.87612623C>A | CA357603566 | DSPP | c.437C>A (p.Ala146Asp)
| |
| 4 | g.87612623C>G | CA357603567 | DSPP | c.437C>G (p.Ala146Gly)
| |
| 4 | g.87612623C>T | CA357603568 | DSPP | c.437C>T (p.Ala146Val)
| |
| 4 | g.87612624T>A | CA440294200 | DSPP | c.438T>A (p.Ala146=)
| |
| 4 | g.87612624T>C | CA440294202 | DSPP | c.438T>C (p.Ala146=)
| dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.87612624T>G | CA440294204 | DSPP | c.438T>G (p.Ala146=)
| |
| 4 | g.87612624T= | CA1474384530 | DSPP | c.438T= (p.Ala146=)
| |
| 4 | g.87612625G>A | CA357603569 | DSPP | c.439G>A (p.Gly147Arg)
| |
| 4 | g.87612625G>C | CA357603570 | DSPP | c.439G>C (p.Gly147Arg)
| |
| 4 | g.87612625G>T | CA357603571 | DSPP | c.439G>T (p.Gly147Ter)
| |
| 4 | g.87612626G>A | CA357603572 | DSPP | c.440G>A (p.Gly147Glu)
| |
| 4 | g.87612626G>C | CA357603573 | DSPP | c.440G>C (p.Gly147Ala)
| |
| 4 | g.87612626G>T | CA357603574 | DSPP | c.440G>T (p.Gly147Val)
| |
| 4 | g.87612627A= | CA1474384531 | DSPP | c.441A= (p.Gly147=)
| |
| 4 | g.87612627A>C | CA440294206 | DSPP | c.441A>C (p.Gly147=)
| |
| 4 | g.87612627A>G | CA440294207 | DSPP | c.441A>G (p.Gly147=)
| COSMIC |
| 4 | g.87612627A>T | CA100849689 | DSPP | c.441A>T (p.Gly147=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612628G>A | CA357603575 | DSPP | c.442G>A (p.Ala148Thr)
| |
| 4 | g.87612628G>C | CA357603577 | DSPP | c.442G>C (p.Ala148Pro)
| |
| 4 | g.87612628G>T | CA357603576 | DSPP | c.442G>T (p.Ala148Ser)
| dbSNP |
| 4 | g.87612629C>A | CA357603578 | DSPP | c.443C>A (p.Ala148Asp)
| gnomAD v4 |
| 4 | g.87612629C>G | CA357603579 | DSPP | c.443C>G (p.Ala148Gly)
| |
| 4 | g.87612629C>T | CA357603580 | DSPP | c.443C>T (p.Ala148Val)
| |
| 4 | g.87612630C>A | CA440294210 | DSPP | c.444C>A (p.Ala148=)
| |
| 4 | g.87612630C>G | CA440294211 | DSPP | c.444C>G (p.Ala148=)
| |
| 4 | g.87612630C>T | CA440294209 | DSPP | c.444C>T (p.Ala148=)
| |
| 4 | g.87612631A>C | CA357603581 | DSPP | c.445A>C (p.Thr149Pro)
| |
| 4 | g.87612631A>G | CA357603582 | DSPP | c.445A>G (p.Thr149Ala)
| |
| 4 | g.87612631A>T | CA357603583 | DSPP | c.445A>T (p.Thr149Ser)
| |
| 4 | g.87612632C>A | CA357603584 | DSPP | c.446C>A (p.Thr149Lys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612632C= | CA1474384532 | DSPP | c.446C= (p.Thr149=)
| |
| 4 | g.87612632C>G | CA3000897 | DSPP | c.446C>G (p.Thr149Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.87612632C>T | CA357603585 | DSPP | c.446C>T (p.Thr149Ile)
| |
| 4 | g.87612633A>C | CA440294215 | DSPP | c.447A>C (p.Thr149=)
| |
| 4 | g.87612633A>G | CA440294216 | DSPP | c.447A>G (p.Thr149=)
| |
| 4 | g.87612633A>T | CA440294217 | DSPP | c.447A>T (p.Thr149=)
| |
| 4 | g.87612634A= | CA1474384533 | DSPP | c.448A= (p.Asn150=)
| |
| 4 | g.87612634A>C | CA357603586 | DSPP | c.448A>C (p.Asn150His)
| |
| 4 | g.87612634A>G | CA100849696 | DSPP | c.448A>G (p.Asn150Asp)
| dbSNP gnomAD v4 |
| 4 | g.87612634A>T | CA357603587 | DSPP | c.448A>T (p.Asn150Tyr)
| |
| 4 | g.87612635A= | CA1474384534 | DSPP | c.449A= (p.Asn150=)
| |
| 4 | g.87612635A>C | CA357603590 | DSPP | c.449A>C (p.Asn150Thr)
| |
| 4 | g.87612635A>G | CA357603588 | DSPP | c.449A>G (p.Asn150Ser)
| |
| 4 | g.87612635A>T | CA357603589 | DSPP | c.449A>T (p.Asn150Ile)
| dbSNP |
| 4 | g.87612636C>A | CA357603591 | DSPP | c.450C>A (p.Asn150Lys)
| |
| 4 | g.87612636C>G | CA357603592 | DSPP | c.450C>G (p.Asn150Lys)
| |
| 4 | g.87612636C>T | CA440294221 | DSPP | c.450C>T (p.Asn150=)
| |
| 4 | g.87612637A>C | CA440294222 | DSPP | c.451A>C (p.Arg151=)
| |
| 4 | g.87612637A>G | CA357603593 | DSPP | c.451A>G (p.Arg151Gly)
| |
| 4 | g.87612637A>T | CA357603594 | DSPP | c.451A>T (p.Arg151Ter)
| |
| 4 | g.87612638G>A | CA357603595 | DSPP | c.452G>A (p.Arg151Lys)
| |
| 4 | g.87612638G>C | CA357603596 | DSPP | c.452G>C (p.Arg151Thr)
| |
| 4 | g.87612638G>T | CA357603597 | DSPP | c.452G>T (p.Arg151Ile)
| |
| 4 | g.87612639A>C | CA357603598 | DSPP | c.453A>C (p.Arg151Ser)
| |
| 4 | g.87612639A>G | CA440294225 | DSPP | c.453A>G (p.Arg151=)
| gnomAD v4 |
| 4 | g.87612639A>T | CA357603599 | DSPP | c.453A>T (p.Arg151Ser)
| |
| 4 | g.87612640A= | CA1474384535 | DSPP | c.454A= (p.Ser152=)
| |
| 4 | g.87612640A>C | CA357603600 | DSPP | c.454A>C (p.Ser152Arg)
| |
| 4 | g.87612640A>G | CA357603601 | DSPP | c.454A>G (p.Ser152Gly)
| dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.87612640A>T | CA357603603 | DSPP | c.454A>T (p.Ser152Cys)
| |
| 4 | g.87612641G>A | CA357603607 | DSPP | c.455G>A (p.Ser152Asn)
| |
| 4 | g.87612641G>C | CA357603608 | DSPP | c.455G>C (p.Ser152Thr)
| |
| 4 | g.87612641G>T | CA357603605 | DSPP | c.455G>T (p.Ser152Ile)
| |
| 4 | g.87612642del | CA2762527068 | DSPP | c.456del (p.Ser152ArgfsTer?)
| |
| 4 | g.87612642C>A | CA357603609 | DSPP | c.456C>A (p.Ser152Arg)
| gnomAD v4 |
| 4 | g.87612642C= | CA1474384536 | DSPP | c.456C= (p.Ser152=)
| |
| 4 | g.87612642C>G | CA100849701 | DSPP | c.456C>G (p.Ser152Arg)
| dbSNP gnomAD v4 |
| 4 | g.87612642C>T | CA440294227 | DSPP | c.456C>T (p.Ser152=)
| gnomAD v4 |
| 4 | g.87612643A= | CA1474384537 | DSPP | c.457A= (p.Asn153=)
| |
| 4 | g.87612643A>C | CA357603612 | DSPP | c.457A>C (p.Asn153His)
| dbSNP |
| 4 | g.87612643A>G | CA357603610 | DSPP | c.457A>G (p.Asn153Asp)
| |
| 4 | g.87612643A>T | CA357603611 | DSPP | c.457A>T (p.Asn153Tyr)
| gnomAD v4 |
| 4 | g.87612644del | CA2557129059 | DSPP | c.458del (p.Asn153ThrfsTer?)
| |
| 4 | g.87612644A>C | CA357603613 | DSPP | c.458A>C (p.Asn153Thr)
| |
| 4 | g.87612644A>G | CA357603614 | DSPP | c.458A>G (p.Asn153Ser)
| |
| 4 | g.87612644A>T | CA357603615 | DSPP | c.458A>T (p.Asn153Ile)
| |
| 4 | g.87612645C>A | CA357603616 | DSPP | c.459C>A (p.Asn153Lys)
| |
| 4 | g.87612645C= | CA1474384538 | DSPP | c.459C= (p.Asn153=)
| |
| 4 | g.87612645C>G | CA357603617 | DSPP | c.459C>G (p.Asn153Lys)
| |
| 4 | g.87612645C>T | CA100849704 | DSPP | c.459C>T (p.Asn153=)
| dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.87612646A>C | CA357603618 | DSPP | c.460A>C (p.Thr154Pro)
| |
| 4 | g.87612646A>G | CA357603620 | DSPP | c.460A>G (p.Thr154Ala)
| |
| 4 | g.87612646A>T | CA357603619 | DSPP | c.460A>T (p.Thr154Ser)
| |
| 4 | g.87612647C>A | CA357603621 | DSPP | c.461C>A (p.Thr154Asn)
| |
| 4 | g.87612647C= | CA1474384539 | DSPP | c.461C= (p.Thr154=)
| |
| 4 | g.87612647C>G | CA357603622 | DSPP | c.461C>G (p.Thr154Ser)
| dbSNP gnomAD v2 COSMIC |
| 4 | g.87612647C>T | CA357603623 | DSPP | c.461C>T (p.Thr154Ile)
| |
| 4 | g.87612648T>A | CA440294231 | DSPP | c.462T>A (p.Thr154=)
| |
| 4 | g.87612648T>C | CA3000898 | DSPP | c.462T>C (p.Thr154=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612648T>G | CA440294232 | DSPP | c.462T>G (p.Thr154=)
| |
| 4 | g.87612648T= | CA1474384540 | DSPP | c.462T= (p.Thr154=)
| |
| 4 | g.87612649A= | CA1474384541 | DSPP | c.463A= (p.Asn155=)
| |
| 4 | g.87612649A>C | CA357603624 | DSPP | c.463A>C (p.Asn155His)
| |
| 4 | g.87612649A>G | CA357603626 | DSPP | c.463A>G (p.Asn155Asp)
| dbSNP |
| 4 | g.87612649A>T | CA357603625 | DSPP | c.463A>T (p.Asn155Tyr)
| |
| 4 | g.87612650A>C | CA357603627 | DSPP | c.464A>C (p.Asn155Thr)
| |
| 4 | g.87612650A>G | CA357603628 | DSPP | c.464A>G (p.Asn155Ser)
| |
| 4 | g.87612650A>T | CA357603629 | DSPP | c.464A>T (p.Asn155Ile)
| |
| 4 | g.87612651T>A | CA357603630 | DSPP | c.465T>A (p.Asn155Lys)
| |
| 4 | g.87612651T>C | CA440294237 | DSPP | c.465T>C (p.Asn155=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612651T>G | CA357603631 | DSPP | c.465T>G (p.Asn155Lys)
| |
| 4 | g.87612651T= | CA1474384542 | DSPP | c.465T= (p.Asn155=)
| |
| 4 | g.87612652G>A | CA357603632 | DSPP | c.466G>A (p.Gly156Arg)
| |
| 4 | g.87612652G>C | CA357603633 | DSPP | c.466G>C (p.Gly156Arg)
| |
| 4 | g.87612652G>T | CA357603634 | DSPP | c.466G>T (p.Gly156Ter)
| |
| 4 | g.87612653G>A | CA357603635 | DSPP | c.467G>A (p.Gly156Glu)
| gnomAD v4 COSMIC |
| 4 | g.87612653G>C | CA357603636 | DSPP | c.467G>C (p.Gly156Ala)
| |
| 4 | g.87612653G>T | CA357603637 | DSPP | c.467G>T (p.Gly156Val)
| |
| 4 | g.87612654A>C | CA440294242 | DSPP | c.468A>C (p.Gly156=)
| COSMIC |
| 4 | g.87612654A>G | CA440294243 | DSPP | c.468A>G (p.Gly156=)
| |
| 4 | g.87612654A>T | CA440294244 | DSPP | c.468A>T (p.Gly156=)
| |
| 4 | g.87612655A>C | CA357603638 | DSPP | c.469A>C (p.Asn157His)
| COSMIC |
| 4 | g.87612655A>G | CA357603640 | DSPP | c.469A>G (p.Asn157Asp)
| |
| 4 | g.87612655A>T | CA357603639 | DSPP | c.469A>T (p.Asn157Tyr)
| |
| 4 | g.87612656A>C | CA357603641 | DSPP | c.470A>C (p.Asn157Thr)
| |
| 4 | g.87612656A>G | CA357603642 | DSPP | c.470A>G (p.Asn157Ser)
| |
| 4 | g.87612656A>T | CA357603643 | DSPP | c.470A>T (p.Asn157Ile)
| |
| 4 | g.87612657T>A | CA357603644 | DSPP | c.471T>A (p.Asn157Lys)
| |
| 4 | g.87612657T>C | CA440294250 | DSPP | c.471T>C (p.Asn157=)
| dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.87612657T>G | CA357603645 | DSPP | c.471T>G (p.Asn157Lys)
| |
| 4 | g.87612657T= | CA1474384543 | DSPP | c.471T= (p.Asn157=)
| |
| 4 | g.87612658A>C | CA357603646 | DSPP | c.472A>C (p.Thr158Pro)
| |
| 4 | g.87612658A>G | CA357603647 | DSPP | c.472A>G (p.Thr158Ala)
| |
| 4 | g.87612658A>T | CA357603648 | DSPP | c.472A>T (p.Thr158Ser)
| |
