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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.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) | |
| 10 | g.87727453T>A | CA470669005 | PAPSS2 | c.1050T>A (p.Val350=) c.1035T>A (p.Val345=) | |
| 10 | g.87727453T>C | CA470669008 | PAPSS2 | c.1050T>C (p.Val350=) c.1035T>C (p.Val345=) | |
| 10 | g.87727453T>G | CA470669010 | PAPSS2 | c.1050T>G (p.Val350=) c.1035T>G (p.Val345=) | |
| 10 | g.87727454T>A | CA377489627 | PAPSS2 | c.1051T>A (p.Trp351Arg) c.1036T>A (p.Trp346Arg) | |
| 10 | g.87727454T>C | CA377489628 | PAPSS2 | c.1051T>C (p.Trp351Arg) c.1036T>C (p.Trp346Arg) | |
| 10 | g.87727454T>G | CA377489629 | PAPSS2 | c.1051T>G (p.Trp351Gly) c.1036T>G (p.Trp346Gly) | dbSNP |
| 10 | g.87727454T= | CA1926063561 | PAPSS2 | c.1051T= (p.Trp351=) c.1036T= (p.Trp346=) | |
| 10 | g.87727455G>A | CA377489630 | PAPSS2 | c.1052G>A (p.Trp351Ter) c.1037G>A (p.Trp346Ter) | |
| 10 | g.87727455G>C | CA377489631 | PAPSS2 | c.1052G>C (p.Trp351Ser) c.1037G>C (p.Trp346Ser) | gnomAD v4 |
| 10 | g.87727455G= | CA1926063562 | PAPSS2 | c.1052G= (p.Trp351=) c.1037G= (p.Trp346=) | |
| 10 | g.87727455G>T | CA377489632 | PAPSS2 | c.1052G>T (p.Trp351Leu) c.1037G>T (p.Trp346Leu) | dbSNP gnomAD v4 |
| 10 | g.87727456G>A | CA377489633 | PAPSS2 | c.1053G>A (p.Trp351Ter) c.1038G>A (p.Trp346Ter) | ClinVar dbSNP |
| 10 | g.87727456G>C | CA377489634 | PAPSS2 | c.1053G>C (p.Trp351Cys) c.1038G>C (p.Trp346Cys) | |
| 10 | g.87727456G= | CA1926063563 | PAPSS2 | c.1053G= (p.Trp351=) c.1038G= (p.Trp346=) | |
| 10 | g.87727456G>T | CA377489635 | PAPSS2 | c.1053G>T (p.Trp351Cys) c.1038G>T (p.Trp346Cys) | |
| 10 | g.87727457G>A | CA377489637 | PAPSS2 | c.1054G>A (p.Gly352Arg) c.1039G>A (p.Gly347Arg) | gnomAD v4 |
| 10 | g.87727457G>C | CA377489638 | PAPSS2 | c.1054G>C (p.Gly352Arg) c.1039G>C (p.Gly347Arg) | |
| 10 | g.87727457G>T | CA377489636 | PAPSS2 | c.1054G>T (p.Gly352Trp) c.1039G>T (p.Gly347Trp) | |
| 10 | g.87727458G>A | CA377489639 | PAPSS2 | c.1055G>A (p.Gly352Glu) c.1040G>A (p.Gly347Glu) | gnomAD v4 |
| 10 | g.87727458G>C | CA377489641 | PAPSS2 | c.1055G>C (p.Gly352Ala) c.1040G>C (p.Gly347Ala) | |
| 10 | g.87727458G= | CA1926063564 | PAPSS2 | c.1055G= (p.Gly352=) c.1040G= (p.Gly347=) | |
| 10 | g.87727458G>T | CA377489640 | PAPSS2 | c.1055G>T (p.Gly352Val) c.1040G>T (p.Gly347Val) | dbSNP |
| 10 | g.87727459G>A | CA470669041 | PAPSS2 | c.1056G>A (p.Gly352=) c.1041G>A (p.Gly347=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.87727459G>C | CA470669044 | PAPSS2 | c.1056G>C (p.Gly352=) c.1041G>C (p.Gly347=) | |
| 10 | g.87727459G= | CA1926063565 | PAPSS2 | c.1056G= (p.Gly352=) c.1041G= (p.Gly347=) | |
| 10 | g.87727459G>T | CA470669045 | PAPSS2 | c.1056G>T (p.Gly352=) c.1041G>T (p.Gly347=) | gnomAD v4 |
| 10 | g.87727459_87727462delinsGACA | CA1926063566 | PAPSS2 | c.1056_1059delinsGACA (p.Gly352=) c.1041_1044delinsGACA (p.Gly347=) | |
| 10 | g.87727460A>C | CA377489642 | PAPSS2 | c.1057A>C (p.Thr353Pro) c.1042A>C (p.Thr348Pro) | |
| 10 | g.87727460A>G | CA377489643 | PAPSS2 | c.1057A>G (p.Thr353Ala) c.1042A>G (p.Thr348Ala) | |
| 10 | g.87727460A>T | CA377489644 | PAPSS2 | c.1057A>T (p.Thr353Ser) c.1042A>T (p.Thr348Ser) | |
| 10 | g.87727463_87727465del | CA1926063567 | PAPSS2 | c.1060_1062del (p.Thr354del) c.1045_1047del (p.Thr349del) | dbSNP |
| 10 | g.87727461C>A | CA377489645 | PAPSS2 | c.1058C>A (p.Thr353Lys) c.1043C>A (p.Thr348Lys) | gnomAD v4 |
| 10 | g.87727461C>G | CA377489646 | PAPSS2 | c.1058C>G (p.Thr353Arg) c.1043C>G (p.Thr348Arg) | |
| 10 | g.87727461C>T | CA377489647 | PAPSS2 | c.1058C>T (p.Thr353Ile) c.1043C>T (p.Thr348Ile) | |
| 10 | g.87727462A= | CA1926063568 | PAPSS2 | c.1059A= (p.Thr353=) c.1044A= (p.Thr348=) | |
| 10 | g.87727462A>C | CA470669057 | PAPSS2 | c.1059A>C (p.Thr353=) c.1044A>C (p.Thr348=) | |
| 10 | g.87727462A>G | CA470669059 | PAPSS2 | c.1059A>G (p.Thr353=) c.1044A>G (p.Thr348=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.87727462A>T | CA470669062 | PAPSS2 | c.1059A>T (p.Thr353=) c.1044A>T (p.Thr348=) | |
| 10 | g.87727463A= | CA1926063569 | PAPSS2 | c.1060A= (p.Thr354=) c.1045A= (p.Thr349=) | |
| 10 | g.87727463A>C | CA377489648 | PAPSS2 | c.1060A>C (p.Thr354Pro) c.1045A>C (p.Thr349Pro) | |
| 10 | g.87727463A>G | CA377489649 | PAPSS2 | c.1060A>G (p.Thr354Ala) c.1045A>G (p.Thr349Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.87727463A>T | CA377489650 | PAPSS2 | c.1060A>T (p.Thr354Ser) c.1045A>T (p.Thr349Ser) | |
| 10 | g.87727464C>A | CA377489651 | PAPSS2 | c.1061C>A (p.Thr354Lys) c.1046C>A (p.Thr349Lys) | |
| 10 | g.87727464C>G | CA377489652 | PAPSS2 | c.1061C>G (p.Thr354Arg) c.1046C>G (p.Thr349Arg) | |
| 10 | g.87727464C>T | CA377489653 | PAPSS2 | c.1061C>T (p.Thr354Ile) c.1046C>T (p.Thr349Ile) | |
| 10 | g.87727465A= | CA1926063570 | PAPSS2 | c.1062A= (p.Thr354=) c.1047A= (p.Thr349=) | |
| 10 | g.87727465A>C | CA470669072 | PAPSS2 | c.1062A>C (p.Thr354=) c.1047A>C (p.Thr349=) | dbSNP |
| 10 | g.87727465A>G | CA470669073 | PAPSS2 | c.1062A>G (p.Thr354=) c.1047A>G (p.Thr349=) | gnomAD v4 |
| 10 | g.87727465A>T | CA470669076 | PAPSS2 | c.1062A>T (p.Thr354=) c.1047A>T (p.Thr349=) | |
| 10 | g.87727466T>A | CA377489655 | PAPSS2 | c.1063T>A (p.Cys355Ser) c.1048T>A (p.Cys350Ser) | |
| 10 | g.87727466T>C | CA5589635 | PAPSS2 | c.1063T>C (p.Cys355Arg) c.1048T>C (p.Cys350Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.87727466T>G | CA377489654 | PAPSS2 | c.1063T>G (p.Cys355Gly) c.1048T>G (p.Cys350Gly) | |
| 10 | g.87727466T= | CA1926063571 | PAPSS2 | c.1063T= (p.Cys355=) c.1048T= (p.Cys350=) | |
| 10 | g.87727467G>A | CA377489656 | PAPSS2 | c.1064G>A (p.Cys355Tyr) c.1049G>A (p.Cys350Tyr) | gnomAD v4 |
| 10 | g.87727467G>C | CA377489657 | PAPSS2 | c.1064G>C (p.Cys355Ser) c.1049G>C (p.Cys350Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.87727467G= | CA1926063572 | PAPSS2 | c.1064G= (p.Cys355=) c.1049G= (p.Cys350=) | |
| 10 | g.87727467G>T | CA377489658 | PAPSS2 | c.1064G>T (p.Cys355Phe) c.1049G>T (p.Cys350Phe) | |
| 10 | g.87727468T>A | CA377489659 | PAPSS2 | c.1065T>A (p.Cys355Ter) c.1050T>A (p.Cys350Ter) | |
| 10 | g.87727468T>C | CA470669086 | PAPSS2 | c.1065T>C (p.Cys355=) c.1050T>C (p.Cys350=) | |
| 10 | g.87727468T>G | CA377489660 | PAPSS2 | c.1065T>G (p.Cys355Trp) c.1050T>G (p.Cys350Trp) | |
| 10 | g.87727469A= | CA1926063573 | PAPSS2 | c.1066A= (p.Thr356=) c.1051A= (p.Thr351=) | |
| 10 | g.87727469A>C | CA377489661 | PAPSS2 | c.1066A>C (p.Thr356Pro) c.1051A>C (p.Thr351Pro) | |
| 10 | g.87727469A>G | CA377489662 | PAPSS2 | c.1066A>G (p.Thr356Ala) c.1051A>G (p.Thr351Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.87727469A>T | CA377489663 | PAPSS2 | c.1066A>T (p.Thr356Ser) c.1051A>T (p.Thr351Ser) | |
| 10 | g.87727470C>A | CA377489665 | PAPSS2 | c.1067C>A (p.Thr356Lys) c.1052C>A (p.Thr351Lys) | gnomAD v4 |
| 10 | g.87727470C>G | CA377489667 | PAPSS2 | c.1067C>G (p.Thr356Arg) c.1052C>G (p.Thr351Arg) | |
| 10 | g.87727470C>T | CA377489669 | PAPSS2 | c.1067C>T (p.Thr356Ile) c.1052C>T (p.Thr351Ile) | |
| 10 | g.87727471A= | CA1926063574 | PAPSS2 | c.1068A= (p.Thr356=) c.1053A= (p.Thr351=) | |
| 10 | g.87727471A>C | CA470669098 | PAPSS2 | c.1068A>C (p.Thr356=) c.1053A>C (p.Thr351=) | |
| 10 | g.87727471A>G | CA470669100 | PAPSS2 | c.1068A>G (p.Thr356=) c.1053A>G (p.Thr351=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.87727471A>T | CA470669099 | PAPSS2 | c.1068A>T (p.Thr356=) c.1053A>T (p.Thr351=) | |
| 10 | g.87727472A>C | CA377489674 | PAPSS2 | c.1069A>C (p.Lys357Gln) c.1054A>C (p.Lys352Gln) | |
| 10 | g.87727472A>G | CA377489672 | PAPSS2 | c.1069A>G (p.Lys357Glu) c.1054A>G (p.Lys352Glu) | |
| 10 | g.87727472A>T | CA377489670 | PAPSS2 | c.1069A>T (p.Lys357Ter) c.1054A>T (p.Lys352Ter) | |
| 10 | g.87727473A>C | CA377489676 | PAPSS2 | c.1070A>C (p.Lys357Thr) c.1055A>C (p.Lys352Thr) | gnomAD v4 |
| 10 | g.87727473A>G | CA377489677 | PAPSS2 | c.1070A>G (p.Lys357Arg) c.1055A>G (p.Lys352Arg) | |
| 10 | g.87727473A>T | CA377489679 | PAPSS2 | c.1070A>T (p.Lys357Ile) c.1055A>T (p.Lys352Ile) | |
| 10 | g.87727474A>C | CA377489681 | PAPSS2 | c.1071A>C (p.Lys357Asn) c.1056A>C (p.Lys352Asn) | |
| 10 | g.87727474A>G | CA470669114 | PAPSS2 | c.1071A>G (p.Lys357=) c.1056A>G (p.Lys352=) | gnomAD v4 |
| 10 | g.87727474A>T | CA377489682 | PAPSS2 | c.1071A>T (p.Lys357Asn) c.1056A>T (p.Lys352Asn) | |
| 10 | g.87727475C>A | CA377489684 | PAPSS2 | c.1072C>A (p.His358Asn) c.1057C>A (p.His353Asn) | |
| 10 | g.87727475C= | CA1926063575 | PAPSS2 | c.1072C= (p.His358=) c.1057C= (p.His353=) | |
| 10 | g.87727475C>G | CA377489686 | PAPSS2 | c.1072C>G (p.His358Asp) c.1057C>G (p.His353Asp) | |
| 10 | g.87727475C>T | CA377489688 | PAPSS2 | c.1072C>T (p.His358Tyr) c.1057C>T (p.His353Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.87727476A>C | CA377489689 | PAPSS2 | c.1073A>C (p.His358Pro) c.1058A>C (p.His353Pro) | |
| 10 | g.87727476A>G | CA377489690 | PAPSS2 | c.1073A>G (p.His358Arg) c.1058A>G (p.His353Arg) | |
| 10 | g.87727476A>T | CA377489691 | PAPSS2 | c.1073A>T (p.His358Leu) c.1058A>T (p.His353Leu) | |
| 10 | g.87727476_87727477delinsAC | CA1926063576 | PAPSS2 | c.1073_1074delinsAC (p.His358=) c.1058_1059delinsAC (p.His353=) | |
| 10 | g.87727477C>A | CA377489693 | PAPSS2 | c.1074C>A (p.His358Gln) c.1059C>A (p.His353Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.87727477C= | CA1926063577 | PAPSS2 | c.1074C= (p.His358=) c.1059C= (p.His353=) | |
| 10 | g.87727477C>G | CA377489694 | PAPSS2 | c.1074C>G (p.His358Gln) c.1059C>G (p.His353Gln) | |
| 10 | g.87727477C>T | CA470669129 | PAPSS2 | c.1074C>T (p.His358=) c.1059C>T (p.His353=) | dbSNP |
| 10 | g.87727481del | CA1139661596 | PAPSS2 | c.1078del (p.His360IlefsTer5) c.1063del (p.His355IlefsTer5) | ClinVar dbSNP gnomAD v4 |
| 10 | g.87727478C>A | CA377489700 | PAPSS2 | c.1075C>A (p.Pro359Thr) c.1060C>A (p.Pro354Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.87727478C= | CA1926063578 | PAPSS2 | c.1075C= (p.Pro359=) c.1060C= (p.Pro354=) | |
| 10 | g.87727478C>G | CA377489696 | PAPSS2 | c.1075C>G (p.Pro359Ala) c.1060C>G (p.Pro354Ala) | |
| 10 | g.87727478C>T | CA377489698 | PAPSS2 | c.1075C>T (p.Pro359Ser) c.1060C>T (p.Pro354Ser) | dbSNP |