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.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 |
| 10 | g.87727479C>A | CA377489702 | PAPSS2 | c.1076C>A (p.Pro359His) c.1061C>A (p.Pro354His) | |
| 10 | g.87727479C= | CA1926063579 | PAPSS2 | c.1076C= (p.Pro359=) c.1061C= (p.Pro354=) | |
| 10 | g.87727479C>G | CA377489703 | PAPSS2 | c.1076C>G (p.Pro359Arg) c.1061C>G (p.Pro354Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.87727479C>T | CA5589636 | PAPSS2 | c.1076C>T (p.Pro359Leu) c.1061C>T (p.Pro354Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.87727480C>A | CA470669152 | PAPSS2 | c.1077C>A (p.Pro359=) c.1062C>A (p.Pro354=) | gnomAD v4 |
| 10 | g.87727480C>G | CA470669154 | PAPSS2 | c.1077C>G (p.Pro359=) c.1062C>G (p.Pro354=) | |
| 10 | g.87727480C>T | CA470669156 | PAPSS2 | c.1077C>T (p.Pro359=) c.1062C>T (p.Pro354=) | |
| 10 | g.87727481C>A | CA377489706 | PAPSS2 | c.1078C>A (p.His360Asn) c.1063C>A (p.His355Asn) | dbSNP gnomAD v2 |
| 10 | g.87727481C= | CA1926063580 | PAPSS2 | c.1078C= (p.His360=) c.1063C= (p.His355=) | |
| 10 | g.87727481C>G | CA377489707 | PAPSS2 | c.1078C>G (p.His360Asp) c.1063C>G (p.His355Asp) | |
| 10 | g.87727481C>T | CA377489709 | PAPSS2 | c.1078C>T (p.His360Tyr) c.1063C>T (p.His355Tyr) | dbSNP gnomAD v2 |
| 10 | g.87727482A= | CA1926063581 | PAPSS2 | c.1079A= (p.His360=) c.1064A= (p.His355=) | |
| 10 | g.87727482A>C | CA377489711 | PAPSS2 | c.1079A>C (p.His360Pro) c.1064A>C (p.His355Pro) | |
| 10 | g.87727482A>G | CA377489713 | PAPSS2 | c.1079A>G (p.His360Arg) c.1064A>G (p.His355Arg) | |
| 10 | g.87727482A>T | CA377489714 | PAPSS2 | c.1079A>T (p.His360Leu) c.1064A>T (p.His355Leu) | ClinVar dbSNP gnomAD v4 |
| 10 | g.87727483T>A | CA377489716 | PAPSS2 | c.1080T>A (p.His360Gln) c.1065T>A (p.His355Gln) | |
| 10 | g.87727483T>C | CA470669189 | PAPSS2 | c.1080T>C (p.His360=) c.1065T>C (p.His355=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.87727483T>G | CA377489718 | PAPSS2 | c.1080T>G (p.His360Gln) c.1065T>G (p.His355Gln) | |
| 10 | g.87727483T= | CA1926063582 | PAPSS2 | c.1080T= (p.His360=) c.1065T= (p.His355=) | |
| 10 | g.87727484A= | CA1926063583 | PAPSS2 | c.1081A= (p.Ile361=) c.1066A= (p.Ile356=) | |
| 10 | g.87727484A>C | CA377489720 | PAPSS2 | c.1081A>C (p.Ile361Leu) c.1066A>C (p.Ile356Leu) | |
| 10 | g.87727484A>G | CA377489723 | PAPSS2 | c.1081A>G (p.Ile361Val) c.1066A>G (p.Ile356Val) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.87727484A>T | CA377489721 | PAPSS2 | c.1081A>T (p.Ile361Phe) c.1066A>T (p.Ile356Phe) | |
| 10 | g.87727485T>A | CA377489725 | PAPSS2 | c.1082T>A (p.Ile361Asn) c.1067T>A (p.Ile356Asn) | |
| 10 | g.87727485T>C | CA377489728 | PAPSS2 | c.1082T>C (p.Ile361Thr) c.1067T>C (p.Ile356Thr) | |
| 10 | g.87727485T>G | CA377489726 | PAPSS2 | c.1082T>G (p.Ile361Ser) c.1067T>G (p.Ile356Ser) | |
| 10 | g.87727486C>A | CA470669190 | PAPSS2 | c.1083C>A (p.Ile361=) c.1068C>A (p.Ile356=) | gnomAD v4 |
| 10 | g.87727486C>G | CA377489730 | PAPSS2 | c.1083C>G (p.Ile361Met) c.1068C>G (p.Ile356Met) | gnomAD v4 |
| 10 | g.87727486C>T | CA470669191 | PAPSS2 | c.1083C>T (p.Ile361=) c.1068C>T (p.Ile356=) | |
| 10 | g.87727487A= | CA1926063584 | PAPSS2 | c.1084A= (p.Lys362=) c.1069A= (p.Lys357=) | |
| 10 | g.87727487A>C | CA377489734 | PAPSS2 | c.1084A>C (p.Lys362Gln) c.1069A>C (p.Lys357Gln) | dbSNP gnomAD v4 |
| 10 | g.87727487A>G | CA377489731 | PAPSS2 | c.1084A>G (p.Lys362Glu) c.1069A>G (p.Lys357Glu) | |
| 10 | g.87727487A>T | CA377489733 | PAPSS2 | c.1084A>T (p.Lys362Ter) c.1069A>T (p.Lys357Ter) | |
| 10 | g.87727488A>C | CA377489737 | PAPSS2 | c.1085A>C (p.Lys362Thr) c.1070A>C (p.Lys357Thr) | |
| 10 | g.87727488A>G | CA377489738 | PAPSS2 | c.1085A>G (p.Lys362Arg) c.1070A>G (p.Lys357Arg) | |
| 10 | g.87727488A>T | CA377489739 | PAPSS2 | c.1085A>T (p.Lys362Ile) c.1070A>T (p.Lys357Ile) | |
| 10 | g.87727489A>C | CA377489741 | PAPSS2 | c.1086A>C (p.Lys362Asn) c.1071A>C (p.Lys357Asn) | |
| 10 | g.87727489A>G | CA470669209 | PAPSS2 | c.1086A>G (p.Lys362=) c.1071A>G (p.Lys357=) | |
| 10 | g.87727489A>T | CA377489743 | PAPSS2 | c.1086A>T (p.Lys362Asn) c.1071A>T (p.Lys357Asn) | |
| 10 | g.87727490G>A | CA377489745 | PAPSS2 | c.1086+1G>A (n.1086+1G>A) c.1071+1G>A (n.1071+1G>A) | |
| 10 | g.87727490G>C | CA377489746 | PAPSS2 | c.1086+1G>C (n.1086+1G>C) c.1071+1G>C (n.1071+1G>C) | |
| 10 | g.87727490G>T | CA377489748 | PAPSS2 | c.1086+1G>T (n.1086+1G>T) c.1071+1G>T (n.1071+1G>T) | |
| 10 | g.87727491T>A | CA377489750 | PAPSS2 | c.1086+2T>A (n.1086+2T>A) c.1071+2T>A (n.1071+2T>A) | |
| 10 | g.87727491T>C | CA377489751 | PAPSS2 | c.1086+2T>C (n.1086+2T>C) c.1071+2T>C (n.1071+2T>C) | |
| 10 | g.87727491T>G | CA377489752 | PAPSS2 | c.1086+2T>G (n.1086+2T>G) c.1071+2T>G (n.1071+2T>G) | |
| 10 | g.87727496C>A | CA2574602748 | PAPSS2 | c.1086+7C>A (n.1086+7C>A) c.1071+7C>A (n.1071+7C>A) | gnomAD v4 |
| 10 | g.87727497A>C | CA2610038253 | PAPSS2 | c.1086+8A>C (n.1086+8A>C) c.1071+8A>C (n.1071+8A>C) | gnomAD v4 |
| 10 | g.87727499A= | CA1926063585 | PAPSS2 | c.1086+10A= (n.1086+10A=) c.1071+10A= (n.1071+10A=) | |
| 10 | g.87727499A>C | CA5589638 | PAPSS2 | c.1086+10A>C (n.1086+10A>C) c.1071+10A>C (n.1071+10A>C) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 10 | g.87727499A>T | CA5589637 | PAPSS2 | c.1086+10A>T (n.1086+10A>T) c.1071+10A>T (n.1071+10A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.87727501A= | CA1926063586 | PAPSS2 | c.1086+12A= (n.1086+12A=) c.1071+12A= (n.1071+12A=) | |
| 10 | g.87727501A>G | CA1926063587 | PAPSS2 | c.1086+12A>G (n.1086+12A>G) c.1071+12A>G (n.1071+12A>G) | dbSNP |
| 10 | g.87727503C>A | CA2610038254 | PAPSS2 | c.1086+14C>A (n.1086+14C>A) c.1071+14C>A (n.1071+14C>A) | gnomAD v4 |
| 10 | g.87727504C>A | CA2610038255 | PAPSS2 | c.1086+15C>A (n.1086+15C>A) c.1071+15C>A (n.1071+15C>A) | gnomAD v4 |
| 10 | g.87727504C= | CA1926063588 | PAPSS2 | c.1086+15C= (n.1086+15C=) c.1071+15C= (n.1071+15C=) | |
| 10 | g.87727504C>T | CA594916758 | PAPSS2 | c.1086+15C>T (n.1086+15C>T) c.1071+15C>T (n.1071+15C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.87727505T>G | CA5589639 | PAPSS2 | c.1086+16T>G (n.1086+16T>G) c.1071+16T>G (n.1071+16T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.87727505T= | CA1926063589 | PAPSS2 | c.1086+16T= (n.1086+16T=) c.1071+16T= (n.1071+16T=) | |
| 10 | g.87727508G>A | CA2574602749 | PAPSS2 | c.1086+19G>A (n.1086+19G>A) c.1071+19G>A (n.1071+19G>A) | gnomAD v4 |
| 10 | g.87727508G>C | CA2610038256 | PAPSS2 | c.1086+19G>C (n.1086+19G>C) c.1071+19G>C (n.1071+19G>C) | gnomAD v4 |
| 10 | g.87727508G>T | CA2610038257 | PAPSS2 | c.1086+19G>T (n.1086+19G>T) c.1071+19G>T (n.1071+19G>T) | gnomAD v4 |
| 10 | g.87727512G>A | CA594916761 | PAPSS2 | c.1086+23G>A (n.1086+23G>A) c.1071+23G>A (n.1071+23G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.87727512G= | CA1926063590 | PAPSS2 | c.1086+23G= (n.1086+23G=) c.1071+23G= (n.1071+23G=) | |
| 10 | g.87727513G>A | CA669557133 | PAPSS2 | c.1086+24G>A (n.1086+24G>A) c.1071+24G>A (n.1071+24G>A) | dbSNP |
| 10 | g.87727513G= | CA1926063591 | PAPSS2 | c.1086+24G= (n.1086+24G=) c.1071+24G= (n.1071+24G=) | |
| 10 | g.87727515C>A | CA594916762 | PAPSS2 | c.1086+26C>A (n.1086+26C>A) c.1071+26C>A (n.1071+26C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.87727515C= | CA1926063592 | PAPSS2 | c.1086+26C= (n.1086+26C=) c.1071+26C= (n.1071+26C=) | |
| 10 | g.87727515C>T | CA2610038258 | PAPSS2 | c.1086+26C>T (n.1086+26C>T) c.1071+26C>T (n.1071+26C>T) | gnomAD v4 |
| 10 | g.87727516T>C | CA2610038259 | PAPSS2 | c.1086+27T>C (n.1086+27T>C) c.1071+27T>C (n.1071+27T>C) | gnomAD v4 |
| 10 | g.87727518_87727519delinsTC | CA1926063593 | PAPSS2 | c.1086+29_1086+30delinsTC (n.1086+29_1086+30delinsTC) c.1071+29_1071+30delinsTC (n.1071+29_1071+30delinsTC) | |
| 10 | g.87727519del | CA594916764 | PAPSS2 | c.1086+30del (n.1086+30del) c.1071+30del (n.1071+30del) | dbSNP gnomAD v2 |
| 10 | g.87727519C>A | CA5589640 | PAPSS2 | c.1086+30C>A (n.1086+30C>A) c.1071+30C>A (n.1071+30C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.87727519C= | CA1926063594 | PAPSS2 | c.1086+30C= (n.1086+30C=) c.1071+30C= (n.1071+30C=) | |
| 10 | g.87727520T>A | CA2610038260 | PAPSS2 | c.1086+31T>A (n.1086+31T>A) c.1071+31T>A (n.1071+31T>A) | gnomAD v4 |
| 10 | g.87727522G>A | CA5589641 | PAPSS2 | c.1086+33G>A (n.1086+33G>A) c.1071+33G>A (n.1071+33G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.87727522G>C | CA2610038261 | PAPSS2 | c.1086+33G>C (n.1086+33G>C) c.1071+33G>C (n.1071+33G>C) | gnomAD v4 |
| 10 | g.87727522G= | CA1926063595 | PAPSS2 | c.1086+33G= (n.1086+33G=) c.1071+33G= (n.1071+33G=) | |
| 10 | g.87727523A= | CA1926063596 | PAPSS2 | c.1086+34A= (n.1086+34A=) c.1071+34A= (n.1071+34A=) | |
| 10 | g.87727523A>C | CA2835696068 | PAPSS2 | c.1086+34A>C (n.1086+34A>C) c.1071+34A>C (n.1071+34A>C) | |
| 10 | g.87727523A>G | CA5589642 | PAPSS2 | c.1086+34A>G (n.1086+34A>G) c.1071+34A>G (n.1071+34A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.87727524G>A | CA2610038262 | PAPSS2 | c.1086+35G>A (n.1086+35G>A) c.1071+35G>A (n.1071+35G>A) | gnomAD v4 |
| 10 | g.87727525C>A | CA2610038263 | PAPSS2 | c.1086+36C>A (n.1086+36C>A) c.1071+36C>A (n.1071+36C>A) | gnomAD v4 |
| 10 | g.87727525C= | CA1926063597 | PAPSS2 | c.1086+36C= (n.1086+36C=) c.1071+36C= (n.1071+36C=) | |
| 10 | g.87727525C>T | CA1926063598 | PAPSS2 | c.1086+36C>T (n.1086+36C>T) c.1071+36C>T (n.1071+36C>T) | dbSNP gnomAD v4 |
| 10 | g.87727527A>T | CA2610038264 | PAPSS2 | c.1086+38A>T (n.1086+38A>T) c.1071+38A>T (n.1071+38A>T) | gnomAD v4 |
| 10 | g.87727528T>G | CA1926063600 | PAPSS2 | c.1086+39T>G (n.1086+39T>G) c.1071+39T>G (n.1071+39T>G) | dbSNP |
| 10 | g.87727528T= | CA1926063599 | PAPSS2 | c.1086+39T= (n.1086+39T=) c.1071+39T= (n.1071+39T=) | |
| 10 | g.87727530del | CA2574602750 | PAPSS2 | c.1086+41del (n.1086+41del) c.1071+41del (n.1071+41del) | |
| 10 | g.87727529T>G | CA2610038265 | PAPSS2 | c.1086+40T>G (n.1086+40T>G) c.1071+40T>G (n.1071+40T>G) | gnomAD v4 |
| 10 | g.87727530T>A | CA2610038266 | PAPSS2 | c.1086+41T>A (n.1086+41T>A) c.1071+41T>A (n.1071+41T>A) | gnomAD v4 |
| 10 | g.87727530T>C | CA2574602751 | PAPSS2 | c.1086+41T>C (n.1086+41T>C) c.1071+41T>C (n.1071+41T>C) | gnomAD v4 |
| 10 | g.87727532A= | CA1926063601 | PAPSS2 | c.1086+43A= (n.1086+43A=) c.1071+43A= (n.1071+43A=) | |
| 10 | g.87727532A>T | CA669557150 | PAPSS2 | c.1086+43A>T (n.1086+43A>T) c.1071+43A>T (n.1071+43A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.87727534C>A | CA2610038267 | PAPSS2 | c.1086+45C>A (n.1086+45C>A) c.1071+45C>A (n.1071+45C>A) | gnomAD v4 |
| 10 | g.87727535T>A | CA2574602752 | PAPSS2 | c.1086+46T>A (n.1086+46T>A) c.1071+46T>A (n.1071+46T>A) | |
| 10 | g.87727535T>G | CA211271895 | PAPSS2 | c.1086+46T>G (n.1086+46T>G) c.1071+46T>G (n.1071+46T>G) | dbSNP gnomAD v4 |
| 10 | g.87727535T= | CA1926063602 | PAPSS2 | c.1086+46T= (n.1086+46T=) c.1071+46T= (n.1071+46T=) | |
| 10 | g.87727536G>A | CA211271904 | PAPSS2 | c.1086+47G>A (n.1086+47G>A) c.1071+47G>A (n.1071+47G>A) | dbSNP |
| 10 | g.87727536G= | CA1926063603 | PAPSS2 | c.1086+47G= (n.1086+47G=) c.1071+47G= (n.1071+47G=) | |
| 10 | g.87727538G>A | CA653648699 | PAPSS2 | c.1086+49G>A (n.1086+49G>A) c.1071+49G>A (n.1071+49G>A) | COSMIC |
| 10 | g.87727539A= | CA1926063604 | PAPSS2 | c.1086+50A= (n.1086+50A=) c.1071+50A= (n.1071+50A=) | |
| 10 | g.87727539A>C | CA1926063605 | PAPSS2 | c.1086+50A>C (n.1086+50A>C) c.1071+50A>C (n.1071+50A>C) | dbSNP |
| 10 | g.87727539A>G | CA5589643 | PAPSS2 | c.1086+50A>G (n.1086+50A>G) c.1071+50A>G (n.1071+50A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.87727540A>T | CA2610038268 | PAPSS2 | c.1086+51A>T (n.1086+51A>T) c.1071+51A>T (n.1071+51A>T) | gnomAD v4 |
| 10 | g.87727541G>T | CA653648700 | PAPSS2 | c.1086+52G>T (n.1086+52G>T) c.1071+52G>T (n.1071+52G>T) | COSMIC |
| 10 | g.87727542A>G | CA2610041972 | PAPSS2 | c.1086+53A>G (n.1086+53A>G) c.1071+53A>G (n.1071+53A>G) | gnomAD v4 |
| 10 | g.87727543A>G | CA2788891768 | PAPSS2 | c.1086+54A>G (n.1086+54A>G) c.1071+54A>G (n.1071+54A>G) | |
| 10 | g.87727543_87727547delinsAAAAT | CA1926063606 | PAPSS2 | c.1086+54_1086+58delinsAAAAT (n.1086+54_1086+58delinsAAAAT) c.1071+54_1071+58delinsAAAAT (n.1071+54_1071+58delinsAAAAT) | |
| 10 | g.87727544A>G | CA2610041973 | PAPSS2 | c.1086+55A>G (n.1086+55A>G) c.1071+55A>G (n.1071+55A>G) | gnomAD v4 |
| 10 | g.87727546_87727549del | CA930899708 | PAPSS2 | c.1086+57_1086+60del (n.1086+57_1086+60del) c.1071+57_1071+60del (n.1071+57_1071+60del) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.87727548A= | CA1926063607 | PAPSS2 | c.1086+59A= (n.1086+59A=) c.1071+59A= (n.1071+59A=) | |
| 10 | g.87727548A>T | CA1926063608 | PAPSS2 | c.1086+59A>T (n.1086+59A>T) c.1071+59A>T (n.1071+59A>T) | dbSNP |
| 10 | g.87727549_87727551delinsACT | CA1926063609 | PAPSS2 | c.1086+60_1086+62delinsACT (n.1086+60_1086+62delinsACT) c.1071+60_1071+62delinsACT (n.1071+60_1071+62delinsACT) |