SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allow us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allow us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.87727344_87727360del | CA2610038248 | PAPSS2 | c.941_957del (p.Arg314GlnfsTer18) c.926_942del (p.Arg309GlnfsTer18) | gnomAD v4 |
| 10 | g.87727352G>A | CA5589615 | PAPSS2 | c.949G>A (p.Gly317Arg) c.934G>A (p.Gly312Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.87727352G>C | CA377489411 | PAPSS2 | c.949G>C (p.Gly317Arg) c.934G>C (p.Gly312Arg) | |
| 10 | g.87727352G= | CA1926080778 | PAPSS2 | c.949G= (p.Gly317=) c.934G= (p.Gly312=) | |
| 10 | g.87727352G>T | CA377489412 | PAPSS2 | c.949G>T (p.Gly317Trp) c.934G>T (p.Gly312Trp) | |
| 10 | g.87727354del | CA2610038249 | PAPSS2 | c.951del (p.Cys318AlafsTer13) c.936del (p.Cys313AlafsTer13) | gnomAD v4 |
| 10 | g.87727353G>A | CA377489413 | PAPSS2 | c.950G>A (p.Gly317Glu) c.935G>A (p.Gly312Glu) | gnomAD v4 |
| 10 | g.87727353G>C | CA377489414 | PAPSS2 | c.950G>C (p.Gly317Ala) c.935G>C (p.Gly312Ala) | |
| 10 | g.87727353G= | CA1926080779 | PAPSS2 | c.950G= (p.Gly317=) c.935G= (p.Gly312=) | |
| 10 | g.87727353G>T | CA211271747 | PAPSS2 | c.950G>T (p.Gly317Val) c.935G>T (p.Gly312Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.87727354G>A | CA470668238 | PAPSS2 | c.951G>A (p.Gly317=) c.936G>A (p.Gly312=) | dbSNP gnomAD v4 |
| 10 | g.87727354G>C | CA470668240 | PAPSS2 | c.951G>C (p.Gly317=) c.936G>C (p.Gly312=) | |
| 10 | g.87727354G= | CA1926080780 | PAPSS2 | c.951G= (p.Gly317=) c.936G= (p.Gly312=) | |
| 10 | g.87727354G>T | CA470668239 | PAPSS2 | c.951G>T (p.Gly317=) c.936G>T (p.Gly312=) | |
| 10 | g.87727355T>A | CA377489417 | PAPSS2 | c.952T>A (p.Cys318Ser) c.937T>A (p.Cys313Ser) | |
| 10 | g.87727355T>C | CA377489415 | PAPSS2 | c.952T>C (p.Cys318Arg) c.937T>C (p.Cys313Arg) | COSMIC |
| 10 | g.87727355T>G | CA377489416 | PAPSS2 | c.952T>G (p.Cys318Gly) c.937T>G (p.Cys313Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.87727355T= | CA1926080781 | PAPSS2 | c.952T= (p.Cys318=) c.937T= (p.Cys313=) | |
| 10 | g.87727356G>A | CA377489418 | PAPSS2 | c.953G>A (p.Cys318Tyr) c.938G>A (p.Cys313Tyr) | gnomAD v4 COSMIC |
| 10 | g.87727356G>C | CA377489419 | PAPSS2 | c.953G>C (p.Cys318Ser) c.938G>C (p.Cys313Ser) | |
| 10 | g.87727356G>T | CA377489420 | PAPSS2 | c.953G>T (p.Cys318Phe) c.938G>T (p.Cys313Phe) | |
| 10 | g.87727357C>A | CA377489421 | PAPSS2 | c.954C>A (p.Cys318Ter) c.939C>A (p.Cys313Ter) | |
| 10 | g.87727357C= | CA1926080782 | PAPSS2 | c.954C= (p.Cys318=) c.939C= (p.Cys313=) | |
| 10 | g.87727357C>G | CA377489422 | PAPSS2 | c.954C>G (p.Cys318Trp) c.939C>G (p.Cys313Trp) | |
| 10 | g.87727357C>T | CA470668252 | PAPSS2 | c.954C>T (p.Cys318=) c.939C>T (p.Cys313=) | dbSNP gnomAD v4 |
| 10 | g.87727358A>C | CA377489423 | PAPSS2 | c.955A>C (p.Ser319Arg) c.940A>C (p.Ser314Arg) | |
| 10 | g.87727358A>G | CA377489424 | PAPSS2 | c.955A>G (p.Ser319Gly) c.940A>G (p.Ser314Gly) | ClinVar gnomAD v4 |
| 10 | g.87727358A>T | CA377489425 | PAPSS2 | c.955A>T (p.Ser319Cys) c.940A>T (p.Ser314Cys) | |
| 10 | g.87727359G>A | CA377489426 | PAPSS2 | c.956G>A (p.Ser319Asn) c.941G>A (p.Ser314Asn) | gnomAD v4 |
| 10 | g.87727359G>C | CA377489427 | PAPSS2 | c.956G>C (p.Ser319Thr) c.941G>C (p.Ser314Thr) | |
| 10 | g.87727359G>T | CA377489428 | PAPSS2 | c.956G>T (p.Ser319Ile) c.941G>T (p.Ser314Ile) | |
| 10 | g.87727360C>A | CA377489429 | PAPSS2 | c.957C>A (p.Ser319Arg) c.942C>A (p.Ser314Arg) | |
| 10 | g.87727360C>G | CA377489430 | PAPSS2 | c.957C>G (p.Ser319Arg) c.942C>G (p.Ser314Arg) | |
| 10 | g.87727360C>T | CA470668269 | PAPSS2 | c.957C>T (p.Ser319=) c.942C>T (p.Ser314=) | |
| 10 | g.87727360_87727361delinsCA | CA1926080783 | PAPSS2 | c.957_958delinsCA (p.Ser319=) c.942_943delinsCA (p.Ser314=) | |
| 10 | g.87727361A>C | CA377489433 | PAPSS2 | c.958A>C (p.Lys320Gln) c.943A>C (p.Lys315Gln) | |
| 10 | g.87727361A>G | CA377489431 | PAPSS2 | c.958A>G (p.Lys320Glu) c.943A>G (p.Lys315Glu) | gnomAD v4 |
| 10 | g.87727361A>T | CA377489432 | PAPSS2 | c.958A>T (p.Lys320Ter) c.943A>T (p.Lys315Ter) | |
| 10 | g.87727362del | CA1926080784 | PAPSS2 | c.959del (p.Lys320SerfsTer11) c.944del (p.Lys315SerfsTer11) | dbSNP |
| 10 | g.87727362A= | CA1926080785 | PAPSS2 | c.959A= (p.Lys320=) c.944A= (p.Lys315=) | |
| 10 | g.87727362A>C | CA377489434 | PAPSS2 | c.959A>C (p.Lys320Thr) c.944A>C (p.Lys315Thr) | |
| 10 | g.87727362A>G | CA377489435 | PAPSS2 | c.959A>G (p.Lys320Arg) c.944A>G (p.Lys315Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.87727362A>T | CA377489436 | PAPSS2 | c.959A>T (p.Lys320Met) c.944A>T (p.Lys315Met) | gnomAD v4 |
| 10 | g.87727363G>A | CA470668276 | PAPSS2 | c.960G>A (p.Lys320=) c.945G>A (p.Lys315=) | gnomAD v4 |
| 10 | g.87727363G>C | CA377489437 | PAPSS2 | c.960G>C (p.Lys320Asn) c.945G>C (p.Lys315Asn) | |
| 10 | g.87727363G>T | CA377489438 | PAPSS2 | c.960G>T (p.Lys320Asn) c.945G>T (p.Lys315Asn) | |
| 10 | g.87727364T>A | CA377489439 | PAPSS2 | c.961T>A (p.Phe321Ile) c.946T>A (p.Phe316Ile) | |
| 10 | g.87727364T>C | CA377489440 | PAPSS2 | c.961T>C (p.Phe321Leu) c.946T>C (p.Phe316Leu) | |
| 10 | g.87727364T>G | CA377489441 | PAPSS2 | c.961T>G (p.Phe321Val) c.946T>G (p.Phe316Val) | |
| 10 | g.87727365T>A | CA377489442 | PAPSS2 | c.962T>A (p.Phe321Tyr) c.947T>A (p.Phe316Tyr) | |
| 10 | g.87727365T>C | CA377489443 | PAPSS2 | c.962T>C (p.Phe321Ser) c.947T>C (p.Phe316Ser) | |
| 10 | g.87727365T>G | CA377489444 | PAPSS2 | c.962T>G (p.Phe321Cys) c.947T>G (p.Phe316Cys) | |
| 10 | g.87727366T>A | CA377489445 | PAPSS2 | c.963T>A (p.Phe321Leu) c.948T>A (p.Phe316Leu) | |
| 10 | g.87727366T>C | CA211271749 | PAPSS2 | c.963T>C (p.Phe321=) c.948T>C (p.Phe316=) | ClinVar dbSNP gnomAD v4 |
| 10 | g.87727366T>G | CA377489446 | PAPSS2 | c.963T>G (p.Phe321Leu) c.948T>G (p.Phe316Leu) | |
| 10 | g.87727366T= | CA1926080786 | PAPSS2 | c.963T= (p.Phe321=) c.948T= (p.Phe316=) | |
| 10 | g.87727367G>A | CA377489449 | PAPSS2 | c.964G>A (p.Val322Ile) c.949G>A (p.Val317Ile) | |
| 10 | g.87727367G>C | CA377489447 | PAPSS2 | c.964G>C (p.Val322Leu) c.949G>C (p.Val317Leu) | dbSNP |
| 10 | g.87727367G= | CA1926080787 | PAPSS2 | c.964G= (p.Val322=) c.949G= (p.Val317=) | |
| 10 | g.87727367G>T | CA377489448 | PAPSS2 | c.964G>T (p.Val322Phe) c.949G>T (p.Val317Phe) | |
| 10 | g.87727368T>A | CA377489450 | PAPSS2 | c.965T>A (p.Val322Asp) c.950T>A (p.Val317Asp) | gnomAD v4 |
| 10 | g.87727368T>C | CA377489451 | PAPSS2 | c.965T>C (p.Val322Ala) c.950T>C (p.Val317Ala) | |
| 10 | g.87727368T>G | CA377489452 | PAPSS2 | c.965T>G (p.Val322Gly) c.950T>G (p.Val317Gly) | |
| 10 | g.87727369C>A | CA470668298 | PAPSS2 | c.966C>A (p.Val322=) c.951C>A (p.Val317=) | |
| 10 | g.87727369C>G | CA470668299 | PAPSS2 | c.966C>G (p.Val322=) c.951C>G (p.Val317=) | |
| 10 | g.87727369C>T | CA470668300 | PAPSS2 | c.966C>T (p.Val322=) c.951C>T (p.Val317=) | gnomAD v4 |
| 10 | g.87727370C>A | CA377489453 | PAPSS2 | c.967C>A (p.Leu323Met) c.952C>A (p.Leu318Met) | |
| 10 | g.87727370C= | CA1926080788 | PAPSS2 | c.967C= (p.Leu323=) c.952C= (p.Leu318=) | |
| 10 | g.87727370C>G | CA377489454 | PAPSS2 | c.967C>G (p.Leu323Val) c.952C>G (p.Leu318Val) | |
| 10 | g.87727370C>T | CA5589616 | PAPSS2 | c.967C>T (p.Leu323=) c.952C>T (p.Leu318=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.87727371T>A | CA377489455 | PAPSS2 | c.968T>A (p.Leu323Gln) c.953T>A (p.Leu318Gln) | |
| 10 | g.87727371T>C | CA5589617 | PAPSS2 | c.968T>C (p.Leu323Pro) c.953T>C (p.Leu318Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.87727371T>G | CA377489456 | PAPSS2 | c.968T>G (p.Leu323Arg) c.953T>G (p.Leu318Arg) | |
| 10 | g.87727371T= | CA1926080789 | PAPSS2 | c.968T= (p.Leu323=) c.953T= (p.Leu318=) | |
| 10 | g.87727372G>A | CA470668312 | PAPSS2 | c.969G>A (p.Leu323=) c.954G>A (p.Leu318=) | |
| 10 | g.87727372G>C | CA470668318 | PAPSS2 | c.969G>C (p.Leu323=) c.954G>C (p.Leu318=) | |
| 10 | g.87727372G>T | CA470668320 | PAPSS2 | c.969G>T (p.Leu323=) c.954G>T (p.Leu318=) | |
| 10 | g.87727373G>A | CA377489457 | PAPSS2 | c.970G>A (p.Ala324Thr) c.955G>A (p.Ala319Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.87727373G>C | CA377489458 | PAPSS2 | c.970G>C (p.Ala324Pro) c.955G>C (p.Ala319Pro) | |
| 10 | g.87727373G= | CA1926080790 | PAPSS2 | c.970G= (p.Ala324=) c.955G= (p.Ala319=) | |
| 10 | g.87727373G>T | CA377489459 | PAPSS2 | c.970G>T (p.Ala324Ser) c.955G>T (p.Ala319Ser) | |
| 10 | g.87727374C>A | CA377489460 | PAPSS2 | c.971C>A (p.Ala324Glu) c.956C>A (p.Ala319Glu) | gnomAD v4 |
| 10 | g.87727374C>G | CA377489462 | PAPSS2 | c.971C>G (p.Ala324Gly) c.956C>G (p.Ala319Gly) | |
| 10 | g.87727374C>T | CA377489461 | PAPSS2 | c.971C>T (p.Ala324Val) c.956C>T (p.Ala319Val) | |
| 10 | g.87727375A= | CA1926080791 | PAPSS2 | c.972A= (p.Ala324=) c.957A= (p.Ala319=) | |
| 10 | g.87727375A>C | CA470668327 | PAPSS2 | c.972A>C (p.Ala324=) c.957A>C (p.Ala319=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.87727375A>G | CA470668329 | PAPSS2 | c.972A>G (p.Ala324=) c.957A>G (p.Ala319=) | |
| 10 | g.87727375A>T | CA470668326 | PAPSS2 | c.972A>T (p.Ala324=) c.957A>T (p.Ala319=) | |
| 10 | g.87727376C>A | CA377489463 | PAPSS2 | c.973C>A (p.His325Asn) c.958C>A (p.His320Asn) | |
| 10 | g.87727376C>G | CA377489465 | PAPSS2 | c.973C>G (p.His325Asp) c.958C>G (p.His320Asp) | |
| 10 | g.87727376C>T | CA377489464 | PAPSS2 | c.973C>T (p.His325Tyr) c.958C>T (p.His320Tyr) | |
| 10 | g.87727377A>C | CA377489466 | PAPSS2 | c.974A>C (p.His325Pro) c.959A>C (p.His320Pro) | |
| 10 | g.87727377A>G | CA377489468 | PAPSS2 | c.974A>G (p.His325Arg) c.959A>G (p.His320Arg) | gnomAD v4 |
| 10 | g.87727377A>T | CA377489467 | PAPSS2 | c.974A>T (p.His325Leu) c.959A>T (p.His320Leu) | |
| 10 | g.87727378T>A | CA377489469 | PAPSS2 | c.975T>A (p.His325Gln) c.960T>A (p.His320Gln) | |
| 10 | g.87727378T>C | CA470668340 | PAPSS2 | c.975T>C (p.His325=) c.960T>C (p.His320=) | |
| 10 | g.87727378T>G | CA377489470 | PAPSS2 | c.975T>G (p.His325Gln) c.960T>G (p.His320Gln) | |
| 10 | g.87727379G>A | CA377489471 | PAPSS2 | c.976G>A (p.Gly326Ser) c.961G>A (p.Gly321Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.87727379G>C | CA377489472 | PAPSS2 | c.976G>C (p.Gly326Arg) c.961G>C (p.Gly321Arg) | |
| 10 | g.87727379G= | CA1926080792 | PAPSS2 | c.976G= (p.Gly326=) c.961G= (p.Gly321=) | |
| 10 | g.87727379G>T | CA377489473 | PAPSS2 | c.976G>T (p.Gly326Cys) c.961G>T (p.Gly321Cys) | |
| 10 | g.87727380G>A | CA377489474 | PAPSS2 | c.977G>A (p.Gly326Asp) c.962G>A (p.Gly321Asp) | |
| 10 | g.87727380G>C | CA377489475 | PAPSS2 | c.977G>C (p.Gly326Ala) c.962G>C (p.Gly321Ala) | gnomAD v4 |
| 10 | g.87727380G>T | CA377489476 | PAPSS2 | c.977G>T (p.Gly326Val) c.962G>T (p.Gly321Val) | |
| 10 | g.87727381T>A | CA470668347 | PAPSS2 | c.978T>A (p.Gly326=) c.963T>A (p.Gly321=) | |
| 10 | g.87727381T>C | CA5589618 | PAPSS2 | c.978T>C (p.Gly326=) c.963T>C (p.Gly321=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.87727381T>G | CA470668348 | PAPSS2 | c.978T>G (p.Gly326=) c.963T>G (p.Gly321=) | gnomAD v4 |
| 10 | g.87727381T= | CA1926080793 | PAPSS2 | c.978T= (p.Gly326=) c.963T= (p.Gly321=) | |
| 10 | g.87727382G>A | CA377489477 | PAPSS2 | c.979G>A (p.Gly327Arg) c.964G>A (p.Gly322Arg) | |
| 10 | g.87727382G>C | CA377489478 | PAPSS2 | c.979G>C (p.Gly327Arg) c.964G>C (p.Gly322Arg) | |
| 10 | g.87727382G>T | CA377489479 | PAPSS2 | c.979G>T (p.Gly327Ter) c.964G>T (p.Gly322Ter) | |
| 10 | g.87727383G>A | CA377489482 | PAPSS2 | c.980G>A (p.Gly327Glu) c.965G>A (p.Gly322Glu) | dbSNP |
| 10 | g.87727383G>C | CA377489480 | PAPSS2 | c.980G>C (p.Gly327Ala) c.965G>C (p.Gly322Ala) | |
| 10 | g.87727383G= | CA1926080794 | PAPSS2 | c.980G= (p.Gly327=) c.965G= (p.Gly322=) | |
| 10 | g.87727383G>T | CA377489481 | PAPSS2 | c.980G>T (p.Gly327Val) c.965G>T (p.Gly322Val) | |
| 10 | g.87727383_87727384delinsGA | CA1926080795 | PAPSS2 | c.980_981delinsGA (p.Gly327=) c.965_966delinsGA (p.Gly322=) | |
| 10 | g.87727384del | CA930899664 | PAPSS2 | c.981del (p.Arg328GlyfsTer3) c.966del (p.Arg323GlyfsTer3) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.87727384A= | CA1926080796 | PAPSS2 | c.981A= (p.Gly327=) c.966A= (p.Gly322=) | |
| 10 | g.87727384A>C | CA470668607 | PAPSS2 | c.981A>C (p.Gly327=) c.966A>C (p.Gly322=) | |
| 10 | g.87727384A>G | CA470668615 | PAPSS2 | c.981A>G (p.Gly327=) c.966A>G (p.Gly322=) | ClinVar dbSNP gnomAD v4 |
| 10 | g.87727384A>T | CA470668616 | PAPSS2 | c.981A>T (p.Gly327=) c.966A>T (p.Gly322=) | |
| 10 | g.87727385C>A | CA470668619 | PAPSS2 | c.982C>A (p.Arg328=) c.967C>A (p.Arg323=) | |
| 10 | g.87727385C= | CA1926080797 | PAPSS2 | c.982C= (p.Arg328=) c.967C= (p.Arg323=) | |
| 10 | g.87727385C>G | CA377489483 | PAPSS2 | c.982C>G (p.Arg328Gly) c.967C>G (p.Arg323Gly) | |
| 10 | g.87727385C>T | CA5589619 | PAPSS2 | c.982C>T (p.Arg328Trp) c.967C>T (p.Arg323Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.87727386G>A | CA5589620 | PAPSS2 | c.983G>A (p.Arg328Gln) c.968G>A (p.Arg323Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 10 | g.87727386G>C | CA377489484 | PAPSS2 | c.983G>C (p.Arg328Pro) c.968G>C (p.Arg323Pro) | |
| 10 | g.87727386G= | CA1926080798 | PAPSS2 | c.983G= (p.Arg328=) c.968G= (p.Arg323=) | |
| 10 | g.87727386G>T | CA377489485 | PAPSS2 | c.983G>T (p.Arg328Leu) c.968G>T (p.Arg323Leu) | |
| 10 | g.87727387G>A | CA470668632 | PAPSS2 | c.984G>A (p.Arg328=) c.969G>A (p.Arg323=) | |
| 10 | g.87727387G>C | CA470668635 | PAPSS2 | c.984G>C (p.Arg328=) c.969G>C (p.Arg323=) | |
| 10 | g.87727387G>T | CA470668637 | PAPSS2 | c.984G>T (p.Arg328=) c.969G>T (p.Arg323=) | |
| 10 | g.87727388A= | CA1926080799 | PAPSS2 | c.985A= (p.Arg329=) c.970A= (p.Arg324=) | |
| 10 | g.87727388A>C | CA470668638 | PAPSS2 | c.985A>C (p.Arg329=) c.970A>C (p.Arg324=) | |
| 10 | g.87727388A>G | CA377489486 | PAPSS2 | c.985A>G (p.Arg329Gly) c.970A>G (p.Arg324Gly) | dbSNP |
| 10 | g.87727388A>T | CA377489487 | PAPSS2 | c.985A>T (p.Arg329Trp) c.970A>T (p.Arg324Trp) | |
| 10 | g.87727389G>A | CA377489488 | PAPSS2 | c.986G>A (p.Arg329Lys) c.971G>A (p.Arg324Lys) | COSMIC |
| 10 | g.87727389G>C | CA377489489 | PAPSS2 | c.986G>C (p.Arg329Thr) c.971G>C (p.Arg324Thr) | |
| 10 | g.87727389G>T | CA377489490 | PAPSS2 | c.986G>T (p.Arg329Met) c.971G>T (p.Arg324Met) | |
| 10 | g.87727390G>A | CA5589621 | PAPSS2 | c.987G>A (p.Arg329=) c.972G>A (p.Arg324=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.87727390G>C | CA377489492 | PAPSS2 | c.987G>C (p.Arg329Ser) c.972G>C (p.Arg324Ser) | |
| 10 | g.87727390G= | CA1926080800 | PAPSS2 | c.987G= (p.Arg329=) c.972G= (p.Arg324=) | |
| 10 | g.87727390G>T | CA377489491 | PAPSS2 | c.987G>T (p.Arg329Ser) c.972G>T (p.Arg324Ser) | |
| 10 | g.87727391G>A | CA377489493 | PAPSS2 | c.988G>A (p.Val330Ile) c.973G>A (p.Val325Ile) | dbSNP COSMIC |
| 10 | g.87727391G>C | CA377489494 | PAPSS2 | c.988G>C (p.Val330Leu) c.973G>C (p.Val325Leu) | |
| 10 | g.87727391G= | CA1926080801 | PAPSS2 | c.988G= (p.Val330=) c.973G= (p.Val325=) | |
| 10 | g.87727391G>T | CA377489495 | PAPSS2 | c.988G>T (p.Val330Leu) c.973G>T (p.Val325Leu) | |
| 10 | g.87727392T>A | CA377489496 | PAPSS2 | c.989T>A (p.Val330Glu) c.974T>A (p.Val325Glu) | |
| 10 | g.87727392T>C | CA377489497 | PAPSS2 | c.989T>C (p.Val330Ala) c.974T>C (p.Val325Ala) | |
| 10 | g.87727392T>G | CA377489498 | PAPSS2 | c.989T>G (p.Val330Gly) c.974T>G (p.Val325Gly) | dbSNP |
| 10 | g.87727392T= | CA1926080802 | PAPSS2 | c.989T= (p.Val330=) c.974T= (p.Val325=) | |
| 10 | g.87727393A= | CA1926080803 | PAPSS2 | c.990A= (p.Val330=) c.975A= (p.Val325=) | |
| 10 | g.87727393A>C | CA470668659 | PAPSS2 | c.990A>C (p.Val330=) c.975A>C (p.Val325=) | |
| 10 | g.87727393A>G | CA5589622 | PAPSS2 | c.990A>G (p.Val330=) c.975A>G (p.Val325=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.87727393A>T | CA470668663 | PAPSS2 | c.990A>T (p.Val330=) c.975A>T (p.Val325=) | |
| 10 | g.87727394G>A | CA377489499 | PAPSS2 | c.991G>A (p.Ala331Thr) c.976G>A (p.Ala326Thr) | gnomAD v4 |
| 10 | g.87727394G>C | CA377489500 | PAPSS2 | c.991G>C (p.Ala331Pro) c.976G>C (p.Ala326Pro) | |
| 10 | g.87727394G>T | CA377489501 | PAPSS2 | c.991G>T (p.Ala331Ser) c.976G>T (p.Ala326Ser) | |
| 10 | g.87727395C>A | CA377489502 | PAPSS2 | c.992C>A (p.Ala331Asp) c.977C>A (p.Ala326Asp) | |
| 10 | g.87727395C>G | CA377489503 | PAPSS2 | c.992C>G (p.Ala331Gly) c.977C>G (p.Ala326Gly) | |
| 10 | g.87727395C>T | CA377489504 | PAPSS2 | c.992C>T (p.Ala331Val) c.977C>T (p.Ala326Val) | |
| 10 | g.87727396T>A | CA470668672 | PAPSS2 | c.993T>A (p.Ala331=) c.978T>A (p.Ala326=) | |
| 10 | g.87727396T>C | CA470668676 | PAPSS2 | c.993T>C (p.Ala331=) c.978T>C (p.Ala326=) | gnomAD v4 |
| 10 | g.87727396T>G | CA470668675 | PAPSS2 | c.993T>G (p.Ala331=) c.978T>G (p.Ala326=) | |
| 10 | g.87727397A= | CA1926063537 | PAPSS2 | c.994A= (p.Ile332=) c.979A= (p.Ile327=) | |
| 10 | g.87727397A>C | CA377489505 | PAPSS2 | c.994A>C (p.Ile332Leu) c.979A>C (p.Ile327Leu) | |
| 10 | g.87727397A>G | CA211271774 | PAPSS2 | c.994A>G (p.Ile332Val) c.979A>G (p.Ile327Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.87727397A>T | CA377489506 | PAPSS2 | c.994A>T (p.Ile332Phe) c.979A>T (p.Ile327Phe) | |
| 10 | g.87727398T>A | CA377489507 | PAPSS2 | c.995T>A (p.Ile332Asn) c.980T>A (p.Ile327Asn) | |
| 10 | g.87727398T>C | CA377489508 | PAPSS2 | c.995T>C (p.Ile332Thr) c.980T>C (p.Ile327Thr) | |
| 10 | g.87727398T>G | CA377489509 | PAPSS2 | c.995T>G (p.Ile332Ser) c.980T>G (p.Ile327Ser) | |
| 10 | g.87727399C>A | CA470668688 | PAPSS2 | c.996C>A (p.Ile332=) c.981C>A (p.Ile327=) | |
| 10 | g.87727399C>G | CA377489510 | PAPSS2 | c.996C>G (p.Ile332Met) c.981C>G (p.Ile327Met) | |
| 10 | g.87727399C>T | CA470668690 | PAPSS2 | c.996C>T (p.Ile332=) c.981C>T (p.Ile327=) | |
| 10 | g.87727400T>A | CA377489511 | PAPSS2 | c.997T>A (p.Leu333Ile) c.982T>A (p.Leu328Ile) | |
| 10 | g.87727400T>C | CA470668694 | PAPSS2 | c.997T>C (p.Leu333=) c.982T>C (p.Leu328=) | |
| 10 | g.87727400T>G | CA377489512 | PAPSS2 | c.997T>G (p.Leu333Val) c.982T>G (p.Leu328Val) | |
| 10 | g.87727401T>A | CA377489513 | PAPSS2 | c.998T>A (p.Leu333Ter) c.983T>A (p.Leu328Ter) | ClinVar |
| 10 | g.87727401T>C | CA377489514 | PAPSS2 | c.998T>C (p.Leu333Ser) c.983T>C (p.Leu328Ser) | |
| 10 | g.87727401T>G | CA377489515 | PAPSS2 | c.998T>G (p.Leu333Ter) c.983T>G (p.Leu328Ter) | |
| 10 | g.87727402A>C | CA377489516 | PAPSS2 | c.999A>C (p.Leu333Phe) c.984A>C (p.Leu328Phe) | |
| 10 | g.87727402A>G | CA470668704 | PAPSS2 | c.999A>G (p.Leu333=) c.984A>G (p.Leu328=) | COSMIC |
| 10 | g.87727402A>T | CA377489517 | PAPSS2 | c.999A>T (p.Leu333Phe) c.984A>T (p.Leu328Phe) | |
| 10 | g.87727403C>A | CA470668710 | PAPSS2 | c.1000C>A (p.Arg334=) c.985C>A (p.Arg329=) | |
| 10 | g.87727403C= | CA1926063538 | PAPSS2 | c.1000C= (p.Arg334=) c.985C= (p.Arg329=) | |
| 10 | g.87727403C>G | CA377489518 | PAPSS2 | c.1000C>G (p.Arg334Gly) c.985C>G (p.Arg329Gly) | |
| 10 | g.87727403C>T | CA118420 | PAPSS2 | c.1000C>T (p.Arg334Ter) c.985C>T (p.Arg329Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.87727404G>A | CA5589623 | PAPSS2 | c.1001G>A (p.Arg334Gln) c.986G>A (p.Arg329Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.87727404G>C | CA377489520 | PAPSS2 | c.1001G>C (p.Arg334Pro) c.986G>C (p.Arg329Pro) | |
| 10 | g.87727404G= | CA1926063539 | PAPSS2 | c.1001G= (p.Arg334=) c.986G= (p.Arg329=) | |
| 10 | g.87727404G>T | CA377489519 | PAPSS2 | c.1001G>T (p.Arg334Leu) c.986G>T (p.Arg329Leu) | |
| 10 | g.87727405A>C | CA470668723 | PAPSS2 | c.1002A>C (p.Arg334=) c.987A>C (p.Arg329=) | |
| 10 | g.87727405A>G | CA470668724 | PAPSS2 | c.1002A>G (p.Arg334=) c.987A>G (p.Arg329=) | |
| 10 | g.87727405A>T | CA470668726 | PAPSS2 | c.1002A>T (p.Arg334=) c.987A>T (p.Arg329=) | |
| 10 | g.87727406G>A | CA377489521 | PAPSS2 | c.1003G>A (p.Asp335Asn) c.988G>A (p.Asp330Asn) | dbSNP gnomAD v2 |
| 10 | g.87727406G>C | CA377489522 | PAPSS2 | c.1003G>C (p.Asp335His) c.988G>C (p.Asp330His) | |
| 10 | g.87727406G= | CA1926063540 | PAPSS2 | c.1003G= (p.Asp335=) c.988G= (p.Asp330=) | |
| 10 | g.87727406G>T | CA377489523 | PAPSS2 | c.1003G>T (p.Asp335Tyr) c.988G>T (p.Asp330Tyr) | |
| 10 | g.87727407A= | CA1926063541 | PAPSS2 | c.1004A= (p.Asp335=) c.989A= (p.Asp330=) | |
| 10 | g.87727407A>C | CA377489524 | PAPSS2 | c.1004A>C (p.Asp335Ala) c.989A>C (p.Asp330Ala) | |
| 10 | g.87727407A>G | CA377489525 | PAPSS2 | c.1004A>G (p.Asp335Gly) c.989A>G (p.Asp330Gly) | dbSNP |
| 10 | g.87727407A>T | CA377489526 | PAPSS2 | c.1004A>T (p.Asp335Val) c.989A>T (p.Asp330Val) | |
| 10 | g.87727408C>A | CA377489527 | PAPSS2 | c.1005C>A (p.Asp335Glu) c.990C>A (p.Asp330Glu) | |
| 10 | g.87727408C= | CA1926063542 | PAPSS2 | c.1005C= (p.Asp335=) c.990C= (p.Asp330=) | |
| 10 | g.87727408C>G | CA377489528 | PAPSS2 | c.1005C>G (p.Asp335Glu) c.990C>G (p.Asp330Glu) | |
| 10 | g.87727408C>T | CA5589624 | PAPSS2 | c.1005C>T (p.Asp335=) c.990C>T (p.Asp330=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.87727409G>A | CA5589625 | PAPSS2 | c.1006G>A (p.Ala336Thr) c.991G>A (p.Ala331Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.87727409G>C | CA377489529 | PAPSS2 | c.1006G>C (p.Ala336Pro) c.991G>C (p.Ala331Pro) | |
| 10 | g.87727409G= | CA1926063543 | PAPSS2 | c.1006G= (p.Ala336=) c.991G= (p.Ala331=) | |
| 10 | g.87727409G>T | CA377489530 | PAPSS2 | c.1006G>T (p.Ala336Ser) c.991G>T (p.Ala331Ser) | |
| 10 | g.87727410C>A | CA377489533 | PAPSS2 | c.1007C>A (p.Ala336Asp) c.992C>A (p.Ala331Asp) | |
| 10 | g.87727410C= | CA1926063544 | PAPSS2 | c.1007C= (p.Ala336=) c.992C= (p.Ala331=) | |
| 10 | g.87727410C>G | CA377489531 | PAPSS2 | c.1007C>G (p.Ala336Gly) c.992C>G (p.Ala331Gly) | |
| 10 | g.87727410C>T | CA377489532 | PAPSS2 | c.1007C>T (p.Ala336Val) c.992C>T (p.Ala331Val) | ClinVar dbSNP |
| 10 | g.87727412_87727418del | CA2610038250 | PAPSS2 | c.1009_1015del (p.Glu337MetfsTer26) c.994_1000del (p.Glu332MetfsTer26) | gnomAD v4 |
| 10 | g.87727411T>A | CA470668752 | PAPSS2 | c.1008T>A (p.Ala336=) c.993T>A (p.Ala331=) | |
| 10 | g.87727411T>C | CA470668753 | PAPSS2 | c.1008T>C (p.Ala336=) c.993T>C (p.Ala331=) | |
| 10 | g.87727411T>G | CA470668756 | PAPSS2 | c.1008T>G (p.Ala336=) c.993T>G (p.Ala331=) | |
| 10 | g.87727412G>A | CA377489534 | PAPSS2 | c.1009G>A (p.Glu337Lys) c.994G>A (p.Glu332Lys) | |
| 10 | g.87727412G>C | CA377489535 | PAPSS2 | c.1009G>C (p.Glu337Gln) c.994G>C (p.Glu332Gln) | |
| 10 | g.87727412G>T | CA377489536 | PAPSS2 | c.1009G>T (p.Glu337Ter) c.994G>T (p.Glu332Ter) | |
| 10 | g.87727413A= | CA1926063545 | PAPSS2 | c.1010A= (p.Glu337=) c.995A= (p.Glu332=) | |
| 10 | g.87727413A>C | CA377489537 | PAPSS2 | c.1010A>C (p.Glu337Ala) c.995A>C (p.Glu332Ala) | |
| 10 | g.87727413A>G | CA211271797 | PAPSS2 | c.1010A>G (p.Glu337Gly) c.995A>G (p.Glu332Gly) | dbSNP |
| 10 | g.87727413A>T | CA377489538 | PAPSS2 | c.1010A>T (p.Glu337Val) c.995A>T (p.Glu332Val) | |
| 10 | g.87727414A>C | CA377489539 | PAPSS2 | c.1011A>C (p.Glu337Asp) c.996A>C (p.Glu332Asp) | |
| 10 | g.87727414A>G | CA470668760 | PAPSS2 | c.1011A>G (p.Glu337=) c.996A>G (p.Glu332=) | |
| 10 | g.87727414A>T | CA377489540 | PAPSS2 | c.1011A>T (p.Glu337Asp) c.996A>T (p.Glu332Asp) | |
| 10 | g.87727415T>A | CA377489541 | PAPSS2 | c.1012T>A (p.Phe338Ile) c.997T>A (p.Phe333Ile) | |
| 10 | g.87727415T>C | CA377489542 | PAPSS2 | c.1012T>C (p.Phe338Leu) c.997T>C (p.Phe333Leu) | |
| 10 | g.87727415T>G | CA377489543 | PAPSS2 | c.1012T>G (p.Phe338Val) c.997T>G (p.Phe333Val) | |
| 10 | g.87727416T>A | CA377489546 | PAPSS2 | c.1013T>A (p.Phe338Tyr) c.998T>A (p.Phe333Tyr) | |
| 10 | g.87727416T>C | CA377489545 | PAPSS2 | c.1013T>C (p.Phe338Ser) c.998T>C (p.Phe333Ser) | |
| 10 | g.87727416T>G | CA377489544 | PAPSS2 | c.1013T>G (p.Phe338Cys) c.998T>G (p.Phe333Cys) | |
| 10 | g.87727417C>A | CA377489547 | PAPSS2 | c.1014C>A (p.Phe338Leu) c.999C>A (p.Phe333Leu) | |
| 10 | g.87727417C>G | CA377489548 | PAPSS2 | c.1014C>G (p.Phe338Leu) c.999C>G (p.Phe333Leu) | |
| 10 | g.87727417C>T | CA470668784 | PAPSS2 | c.1014C>T (p.Phe338=) c.999C>T (p.Phe333=) | |
| 10 | g.87727418T>A | CA377489549 | PAPSS2 | c.1015T>A (p.Tyr339Asn) c.1000T>A (p.Tyr334Asn) | |
| 10 | g.87727418T>C | CA377489550 | PAPSS2 | c.1015T>C (p.Tyr339His) c.1000T>C (p.Tyr334His) | gnomAD v4 |
| 10 | g.87727418T>G | CA377489551 | PAPSS2 | c.1015T>G (p.Tyr339Asp) c.1000T>G (p.Tyr334Asp) | |
| 10 | g.87727419A= | CA1926063546 | PAPSS2 | c.1016A= (p.Tyr339=) c.1001A= (p.Tyr334=) | |
| 10 | g.87727419A>C | CA377489552 | PAPSS2 | c.1016A>C (p.Tyr339Ser) c.1001A>C (p.Tyr334Ser) | |
| 10 | g.87727419A>G | CA5589626 | PAPSS2 | c.1016A>G (p.Tyr339Cys) c.1001A>G (p.Tyr334Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.87727419A>T | CA377489553 | PAPSS2 | c.1016A>T (p.Tyr339Phe) c.1001A>T (p.Tyr334Phe) | |
| 10 | g.87727420T>A | CA377489554 | PAPSS2 | c.1017T>A (p.Tyr339Ter) c.1002T>A (p.Tyr334Ter) | |
| 10 | g.87727420T>C | CA470668807 | PAPSS2 | c.1017T>C (p.Tyr339=) c.1002T>C (p.Tyr334=) | dbSNP |
| 10 | g.87727420T>G | CA377489555 | PAPSS2 | c.1017T>G (p.Tyr339Ter) c.1002T>G (p.Tyr334Ter) | |
| 10 | g.87727420T= | CA1926063547 | PAPSS2 | c.1017T= (p.Tyr339=) c.1002T= (p.Tyr334=) | |
| 10 | g.87727421G>A | CA377489556 | PAPSS2 | c.1018G>A (p.Glu340Lys) c.1003G>A (p.Glu335Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.87727421G>C | CA377489557 | PAPSS2 | c.1018G>C (p.Glu340Gln) c.1003G>C (p.Glu335Gln) | |
| 10 | g.87727421G= | CA1926063548 | PAPSS2 | c.1018G= (p.Glu340=) c.1003G= (p.Glu335=) | |
| 10 | g.87727421G>T | CA377489558 | PAPSS2 | c.1018G>T (p.Glu340Ter) c.1003G>T (p.Glu335Ter) | |
| 10 | g.87727422A>C | CA377489561 | PAPSS2 | c.1019A>C (p.Glu340Ala) c.1004A>C (p.Glu335Ala) | |
| 10 | g.87727422A>G | CA377489559 | PAPSS2 | c.1019A>G (p.Glu340Gly) c.1004A>G (p.Glu335Gly) | gnomAD v4 |
| 10 | g.87727422A>T | CA377489560 | PAPSS2 | c.1019A>T (p.Glu340Val) c.1004A>T (p.Glu335Val) | |
| 10 | g.87727423A= | CA1926063549 | PAPSS2 | c.1020A= (p.Glu340=) c.1005A= (p.Glu335=) | |
| 10 | g.87727423A>C | CA5589627 | PAPSS2 | c.1020A>C (p.Glu340Asp) c.1005A>C (p.Glu335Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.87727423A>G | CA470668823 | PAPSS2 | c.1020A>G (p.Glu340=) c.1005A>G (p.Glu335=) | |
| 10 | g.87727423A>T | CA377489562 | PAPSS2 | c.1020A>T (p.Glu340Asp) c.1005A>T (p.Glu335Asp) | |
| 10 | g.87727424C>A | CA377489563 | PAPSS2 | c.1021C>A (p.His341Asn) c.1006C>A (p.His336Asn) | |
| 10 | g.87727424C= | CA1926063550 | PAPSS2 | c.1021C= (p.His341=) c.1006C= (p.His336=) | |
| 10 | g.87727424C>G | CA377489564 | PAPSS2 | c.1021C>G (p.His341Asp) c.1006C>G (p.His336Asp) | dbSNP |
| 10 | g.87727424C>T | CA377489565 | PAPSS2 | c.1021C>T (p.His341Tyr) c.1006C>T (p.His336Tyr) | |
| 10 | g.87727425A>C | CA377489566 | PAPSS2 | c.1022A>C (p.His341Pro) c.1007A>C (p.His336Pro) | |
| 10 | g.87727425A>G | CA377489567 | PAPSS2 | c.1022A>G (p.His341Arg) c.1007A>G (p.His336Arg) | |
| 10 | g.87727425A>T | CA377489568 | PAPSS2 | c.1022A>T (p.His341Leu) c.1007A>T (p.His336Leu) | |
| 10 | g.87727426del | CA2610038251 | PAPSS2 | c.1023del (p.His341GlnfsTer24) c.1008del (p.His336GlnfsTer24) | gnomAD v4 |
| 10 | g.87727426C>A | CA377489569 | PAPSS2 | c.1023C>A (p.His341Gln) c.1008C>A (p.His336Gln) | |
| 10 | g.87727426C>G | CA377489570 | PAPSS2 | c.1023C>G (p.His341Gln) c.1008C>G (p.His336Gln) | |
| 10 | g.87727426C>T | CA470668843 | PAPSS2 | c.1023C>T (p.His341=) c.1008C>T (p.His336=) | |
| 10 | g.87727427A= | CA1926063551 | PAPSS2 | c.1024A= (p.Arg342=) c.1009A= (p.Arg337=) | |
| 10 | g.87727427A>C | CA470668847 | PAPSS2 | c.1024A>C (p.Arg342=) c.1009A>C (p.Arg337=) | |
| 10 | g.87727427A>G | CA377489571 | PAPSS2 | c.1024A>G (p.Arg342Gly) c.1009A>G (p.Arg337Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.87727427A>T | CA377489572 | PAPSS2 | c.1024A>T (p.Arg342Ter) c.1009A>T (p.Arg337Ter) | |
| 10 | g.87727428G>A | CA377489575 | PAPSS2 | c.1025G>A (p.Arg342Lys) c.1010G>A (p.Arg337Lys) | gnomAD v4 |
| 10 | g.87727428G>C | CA377489574 | PAPSS2 | c.1025G>C (p.Arg342Thr) c.1010G>C (p.Arg337Thr) | |
| 10 | g.87727428G>T | CA377489573 | PAPSS2 | c.1025G>T (p.Arg342Ile) c.1010G>T (p.Arg337Ile) | gnomAD v4 |
| 10 | g.87727429A>C | CA377489576 | PAPSS2 | c.1026A>C (p.Arg342Ser) c.1011A>C (p.Arg337Ser) | |
| 10 | g.87727429A>G | CA470668864 | PAPSS2 | c.1026A>G (p.Arg342=) c.1011A>G (p.Arg337=) | |
| 10 | g.87727429A>T | CA377489577 | PAPSS2 | c.1026A>T (p.Arg342Ser) c.1011A>T (p.Arg337Ser) | |
| 10 | g.87727430A>C | CA377489578 | PAPSS2 | c.1027A>C (p.Lys343Gln) c.1012A>C (p.Lys338Gln) | |
| 10 | g.87727430A>G | CA377489580 | PAPSS2 | c.1027A>G (p.Lys343Glu) c.1012A>G (p.Lys338Glu) | |
| 10 | g.87727430A>T | CA377489579 | PAPSS2 | c.1027A>T (p.Lys343Ter) c.1012A>T (p.Lys338Ter) | |
| 10 | g.87727431A>C | CA377489581 | PAPSS2 | c.1028A>C (p.Lys343Thr) c.1013A>C (p.Lys338Thr) | |
| 10 | g.87727431A>G | CA377489583 | PAPSS2 | c.1028A>G (p.Lys343Arg) c.1013A>G (p.Lys338Arg) | |
| 10 | g.87727431A>T | CA377489582 | PAPSS2 | c.1028A>T (p.Lys343Ile) c.1013A>T (p.Lys338Ile) | |
| 10 | g.87727431_87727446dup | CA2610038252 | PAPSS2 | c.1028_1043dup (p.Val350GlyfsTer?) c.1013_1028dup (p.Val345GlyfsTer?) | gnomAD v4 |
| 10 | g.87727432A= | CA1926063552 | PAPSS2 | c.1029A= (p.Lys343=) c.1014A= (p.Lys338=) | |
| 10 | g.87727432A>C | CA377489584 | PAPSS2 | c.1029A>C (p.Lys343Asn) c.1014A>C (p.Lys338Asn) | |
| 10 | g.87727432A>G | CA470668882 | PAPSS2 | c.1029A>G (p.Lys343=) c.1014A>G (p.Lys338=) | |
| 10 | g.87727432A>T | CA377489585 | PAPSS2 | c.1029A>T (p.Lys343Asn) c.1014A>T (p.Lys338Asn) | |
| 10 | g.87727432_87727433insCTAGATATAAGGT | CA918726456 | PAPSS2 | c.1029_1030insCTAGATATAAGGT (p.Glu344LeufsTer5) c.1014_1015insCTAGATATAAGGT (p.Glu339LeufsTer5) | dbSNP |
| 10 | g.87727433G>A | CA377489586 | PAPSS2 | c.1030G>A (p.Glu344Lys) c.1015G>A (p.Glu339Lys) | COSMIC |
| 10 | g.87727433G>C | CA377489587 | PAPSS2 | c.1030G>C (p.Glu344Gln) c.1015G>C (p.Glu339Gln) | |
| 10 | g.87727433G>T | CA377489588 | PAPSS2 | c.1030G>T (p.Glu344Ter) c.1015G>T (p.Glu339Ter) | |
| 10 | g.87727434A>C | CA377489589 | PAPSS2 | c.1031A>C (p.Glu344Ala) c.1016A>C (p.Glu339Ala) | |
| 10 | g.87727434A>G | CA377489590 | PAPSS2 | c.1031A>G (p.Glu344Gly) c.1016A>G (p.Glu339Gly) | |
| 10 | g.87727434A>T | CA377489591 | PAPSS2 | c.1031A>T (p.Glu344Val) c.1016A>T (p.Glu339Val) | |
| 10 | g.87727435G>A | CA470668895 | PAPSS2 | c.1032G>A (p.Glu344=) c.1017G>A (p.Glu339=) | COSMIC |
| 10 | g.87727435G>C | CA377489592 | PAPSS2 | c.1032G>C (p.Glu344Asp) c.1017G>C (p.Glu339Asp) | |
| 10 | g.87727435G>T | CA377489593 | PAPSS2 | c.1032G>T (p.Glu344Asp) c.1017G>T (p.Glu339Asp) | |
| 10 | g.87727436G>A | CA377489594 | PAPSS2 | c.1033G>A (p.Glu345Lys) c.1018G>A (p.Glu340Lys) | |
| 10 | g.87727436G>C | CA377489595 | PAPSS2 | c.1033G>C (p.Glu345Gln) c.1018G>C (p.Glu340Gln) | |
| 10 | g.87727436G>T | CA377489596 | PAPSS2 | c.1033G>T (p.Glu345Ter) c.1018G>T (p.Glu340Ter) | |
| 10 | g.87727437A>C | CA377489597 | PAPSS2 | c.1034A>C (p.Glu345Ala) c.1019A>C (p.Glu340Ala) | |
| 10 | g.87727437A>G | CA377489599 | PAPSS2 | c.1034A>G (p.Glu345Gly) c.1019A>G (p.Glu340Gly) | |
| 10 | g.87727437A>T | CA377489598 | PAPSS2 | c.1034A>T (p.Glu345Val) c.1019A>T (p.Glu340Val) | |
| 10 | g.87727438A= | CA1926063553 | PAPSS2 | c.1035A= (p.Glu345=) c.1020A= (p.Glu340=) | |
| 10 | g.87727438A>C | CA377489600 | PAPSS2 | c.1035A>C (p.Glu345Asp) c.1020A>C (p.Glu340Asp) | |
| 10 | g.87727438A>G | CA470668917 | PAPSS2 | c.1035A>G (p.Glu345=) c.1020A>G (p.Glu340=) | dbSNP |
| 10 | g.87727438A>T | CA377489601 | PAPSS2 | c.1035A>T (p.Glu345Asp) c.1020A>T (p.Glu340Asp) | |
| 10 | g.87727439C>A | CA377489602 | PAPSS2 | c.1036C>A (p.Arg346Ser) c.1021C>A (p.Arg341Ser) | |
| 10 | g.87727439C= | CA1926063554 | PAPSS2 | c.1036C= (p.Arg346=) c.1021C= (p.Arg341=) | |
| 10 | g.87727439C>G | CA377489603 | PAPSS2 | c.1036C>G (p.Arg346Gly) c.1021C>G (p.Arg341Gly) | |
| 10 | g.87727439C>T | CA5589628 | PAPSS2 | c.1036C>T (p.Arg346Cys) c.1021C>T (p.Arg341Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.87727440G>A | CA5589630 | PAPSS2 | c.1037G>A (p.Arg346His) c.1022G>A (p.Arg341His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.87727440G>C | CA5589629 | PAPSS2 | c.1037G>C (p.Arg346Pro) c.1022G>C (p.Arg341Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.87727440G= | CA1926063555 | PAPSS2 | c.1037G= (p.Arg346=) c.1022G= (p.Arg341=) | |
| 10 | g.87727440G>T | CA377489604 | PAPSS2 | c.1037G>T (p.Arg346Leu) c.1022G>T (p.Arg341Leu) | |
| 10 | g.87727441C>A | CA470668931 | PAPSS2 | c.1038C>A (p.Arg346=) c.1023C>A (p.Arg341=) | |
| 10 | g.87727441C>G | CA470668933 | PAPSS2 | c.1038C>G (p.Arg346=) c.1023C>G (p.Arg341=) | |
| 10 | g.87727441C>T | CA470668936 | PAPSS2 | c.1038C>T (p.Arg346=) c.1023C>T (p.Arg341=) | |
| 10 | g.87727442T>A | CA377489605 | PAPSS2 | c.1039T>A (p.Cys347Ser) c.1024T>A (p.Cys342Ser) | |
| 10 | g.87727442T>C | CA377489606 | PAPSS2 | c.1039T>C (p.Cys347Arg) c.1024T>C (p.Cys342Arg) | |
| 10 | g.87727442T>G | CA377489607 | PAPSS2 | c.1039T>G (p.Cys347Gly) c.1024T>G (p.Cys342Gly) | |
| 10 | g.87727443G>A | CA5589631 | PAPSS2 | c.1040G>A (p.Cys347Tyr) c.1025G>A (p.Cys342Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.87727443G>C | CA377489609 | PAPSS2 | c.1040G>C (p.Cys347Ser) c.1025G>C (p.Cys342Ser) | |
| 10 | g.87727443G= | CA1926063556 | PAPSS2 | c.1040G= (p.Cys347=) c.1025G= (p.Cys342=) | |
| 10 | g.87727443G>T | CA377489608 | PAPSS2 | c.1040G>T (p.Cys347Phe) c.1025G>T (p.Cys342Phe) | |
| 10 | g.87727444T>A | CA377489611 | PAPSS2 | c.1041T>A (p.Cys347Ter) c.1026T>A (p.Cys342Ter) | |
| 10 | g.87727444T>C | CA211271832 | PAPSS2 | c.1041T>C (p.Cys347=) c.1026T>C (p.Cys342=) | dbSNP gnomAD v4 |
| 10 | g.87727444T>G | CA377489610 | PAPSS2 | c.1041T>G (p.Cys347Trp) c.1026T>G (p.Cys342Trp) | |
| 10 | g.87727444T= | CA1926063557 | PAPSS2 | c.1041T= (p.Cys347=) c.1026T= (p.Cys342=) | |
| 10 | g.87727445T>A | CA377489612 | PAPSS2 | c.1042T>A (p.Ser348Thr) c.1027T>A (p.Ser343Thr) | |
| 10 | g.87727445T>C | CA377489613 | PAPSS2 | c.1042T>C (p.Ser348Pro) c.1027T>C (p.Ser343Pro) | |
| 10 | g.87727445T>G | CA377489614 | PAPSS2 | c.1042T>G (p.Ser348Ala) c.1027T>G (p.Ser343Ala) | |
| 10 | g.87727446C>A | CA377489615 | PAPSS2 | c.1043C>A (p.Ser348Tyr) c.1028C>A (p.Ser343Tyr) | |
| 10 | g.87727446C= | CA1926063558 | PAPSS2 | c.1043C= (p.Ser348=) c.1028C= (p.Ser343=) | |
| 10 | g.87727446C>G | CA5589632 | PAPSS2 | c.1043C>G (p.Ser348Cys) c.1028C>G (p.Ser343Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.87727446C>T | CA5589633 | PAPSS2 | c.1043C>T (p.Ser348Phe) c.1028C>T (p.Ser343Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.87727448del | CA470668965 | PAPSS2 | c.1045del (p.Arg349ValfsTer16) c.1030del (p.Arg344ValfsTer16) | |
| 10 | g.87727447C>A | CA470668967 | PAPSS2 | c.1044C>A (p.Ser348=) c.1029C>A (p.Ser343=) | |
| 10 | g.87727447C>G | CA470668969 | PAPSS2 | c.1044C>G (p.Ser348=) c.1029C>G (p.Ser343=) | |
| 10 | g.87727447C>T | CA470668972 | PAPSS2 | c.1044C>T (p.Ser348=) c.1029C>T (p.Ser343=) | |
| 10 | g.87727448C>A | CA377489616 | PAPSS2 | c.1045C>A (p.Arg349Ser) c.1030C>A (p.Arg344Ser) | |
| 10 | g.87727448C= | CA1926063559 | PAPSS2 | c.1045C= (p.Arg349=) c.1030C= (p.Arg344=) | |
| 10 | g.87727448C>G | CA377489617 | PAPSS2 | c.1045C>G (p.Arg349Gly) c.1030C>G (p.Arg344Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.87727448C>T | CA377489618 | PAPSS2 | c.1045C>T (p.Arg349Cys) c.1030C>T (p.Arg344Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.87727449G>A | CA5589634 | PAPSS2 | c.1046G>A (p.Arg349His) c.1031G>A (p.Arg344His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.87727449G>C | CA377489619 | PAPSS2 | c.1046G>C (p.Arg349Pro) c.1031G>C (p.Arg344Pro) | |
| 10 | g.87727449G= | CA1926063560 | PAPSS2 | c.1046G= (p.Arg349=) c.1031G= (p.Arg344=) | |
| 10 | g.87727449G>T | CA377489620 | PAPSS2 | c.1046G>T (p.Arg349Leu) c.1031G>T (p.Arg344Leu) | |
| 10 | g.87727450T>A | CA470668987 | PAPSS2 | c.1047T>A (p.Arg349=) c.1032T>A (p.Arg344=) | |
| 10 | g.87727450T>C | CA470668991 | PAPSS2 | c.1047T>C (p.Arg349=) c.1032T>C (p.Arg344=) | |
| 10 | g.87727450T>G | CA470668989 | PAPSS2 | c.1047T>G (p.Arg349=) c.1032T>G (p.Arg344=) | |
| 10 | g.87727451G>A | CA377489621 | PAPSS2 | c.1048G>A (p.Val350Ile) c.1033G>A (p.Val345Ile) | |
| 10 | g.87727451G>C | CA377489623 | PAPSS2 | c.1048G>C (p.Val350Leu) c.1033G>C (p.Val345Leu) | gnomAD v4 |
| 10 | g.87727451G>T | CA377489622 | PAPSS2 | c.1048G>T (p.Val350Phe) c.1033G>T (p.Val345Phe) | |
| 10 | g.87727452T>A | CA377489624 | PAPSS2 | c.1049T>A (p.Val350Asp) c.1034T>A (p.Val345Asp) | |
| 10 | g.87727452T>C | CA377489625 | PAPSS2 | c.1049T>C (p.Val350Ala) c.1034T>C (p.Val345Ala) | |
| 10 | g.87727452T>G | CA377489626 | PAPSS2 | c.1049T>G (p.Val350Gly) c.1034T>G (p.Val345Gly) |