Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.93927326_93927354del | CA2586972619 | PROS1 | c.134_162del (p.Leu45Ter) c.-260_-232del (n.-260_-232del) n.302_330del c.92_120del (p.Leu31Ter) c.113_141del (p.Leu38Ter) c.230_258del (p.Leu77Ter) | |
3 | g.93927330_93927332delinsCCT | CA1385059426 | PROS1 | c.152_154delinsAGG (p.Gln51=) c.-242_-240delinsAGG (n.-242_-240delinsAGG) n.320_322delinsAGG c.110_112delinsAGG (p.Gln37=) c.131_133delinsAGG (p.Gln44=) c.248_250delinsAGG (p.Gln83=) | |
3 | g.93927331C>A | CA353674588 | PROS1 | c.153G>T (p.Gln51His) c.-241G>T (n.-241G>T) n.321G>T c.111G>T (p.Gln37His) c.132G>T (p.Gln44His) c.249G>T (p.Gln83His) | COSMIC |
3 | g.93927331C= | CA1385059434 | PROS1 | c.153G= (p.Gln51=) c.-241G= (n.-241G=) n.321G= c.111G= (p.Gln37=) c.132G= (p.Gln44=) c.249G= (p.Gln83=) | |
3 | g.93927331C>G | CA353674589 | PROS1 | c.153G>C (p.Gln51His) c.-241G>C (n.-241G>C) n.321G>C c.111G>C (p.Gln37His) c.132G>C (p.Gln44His) c.249G>C (p.Gln83His) | |
3 | g.93927331C>T | CA78505685 | PROS1 | c.153G>A (p.Gln51=) c.-241G>A (n.-241G>A) n.321G>A c.111G>A (p.Gln37=) c.132G>A (p.Gln44=) c.249G>A (p.Gln83=) | dbSNP |
3 | g.93927331_93927332del | CA78505684 | PROS1 | c.152_153del (p.Gln51ArgfsTer2) c.-242_-241del (n.-242_-241del) n.320_321del c.110_111del (p.Gln37ArgfsTer2) c.131_132del (p.Gln44ArgfsTer2) c.248_249del (p.Gln83ArgfsTer2) | dbSNP |
3 | g.93927332T>A | CA353674590 | PROS1 | c.152A>T (p.Gln51Leu) c.-242A>T (n.-242A>T) n.320A>T c.110A>T (p.Gln37Leu) c.131A>T (p.Gln44Leu) c.248A>T (p.Gln83Leu) | |
3 | g.93927332T>C | CA353674591 | PROS1 | c.152A>G (p.Gln51Arg) c.-242A>G (n.-242A>G) n.320A>G c.110A>G (p.Gln37Arg) c.131A>G (p.Gln44Arg) c.248A>G (p.Gln83Arg) | |
3 | g.93927332T>G | CA353674592 | PROS1 | c.152A>C (p.Gln51Pro) c.-242A>C (n.-242A>C) n.320A>C c.110A>C (p.Gln37Pro) c.131A>C (p.Gln44Pro) c.248A>C (p.Gln83Pro) | |
3 | g.93927333G>A | CA353674593 | PROS1 | c.151C>T (p.Gln51Ter) c.-243C>T (n.-243C>T) n.319C>T c.109C>T (p.Gln37Ter) c.130C>T (p.Gln44Ter) c.247C>T (p.Gln83Ter) | gnomAD v4 |
3 | g.93927333G>C | CA353674594 | PROS1 | c.151C>G (p.Gln51Glu) c.-243C>G (n.-243C>G) n.319C>G c.109C>G (p.Gln37Glu) c.130C>G (p.Gln44Glu) c.247C>G (p.Gln83Glu) | |
3 | g.93927333G>T | CA353674595 | PROS1 | c.151C>A (p.Gln51Lys) c.-243C>A (n.-243C>A) n.319C>A c.109C>A (p.Gln37Lys) c.130C>A (p.Gln44Lys) c.247C>A (p.Gln83Lys) | |
3 | g.93927334T>A | CA353674596 | PROS1 | c.150A>T (p.Lys50Asn) c.-244A>T (n.-244A>T) n.318A>T c.108A>T (p.Lys36Asn) c.129A>T (p.Lys43Asn) c.246A>T (p.Lys82Asn) | |
3 | g.93927334T>C | CA434462855 | PROS1 | c.150A>G (p.Lys50=) c.-244A>G (n.-244A>G) n.318A>G c.108A>G (p.Lys36=) c.129A>G (p.Lys43=) c.246A>G (p.Lys82=) | |
3 | g.93927334T>G | CA353674597 | PROS1 | c.150A>C (p.Lys50Asn) c.-244A>C (n.-244A>C) n.318A>C c.108A>C (p.Lys36Asn) c.129A>C (p.Lys43Asn) c.246A>C (p.Lys82Asn) | |
3 | g.93927336del | CA2586972620 | PROS1 | c.150del (p.Lys50AsnfsTer?) c.-244del (n.-244del) n.318del c.108del (p.Lys36AsnfsTer?) c.129del (p.Lys43AsnfsTer?) c.246del (p.Lys82AsnfsTer?) | |
3 | g.93927335T>A | CA353674598 | PROS1 | c.149A>T (p.Lys50Ile) c.-245A>T (n.-245A>T) n.317A>T c.107A>T (p.Lys36Ile) c.128A>T (p.Lys43Ile) c.245A>T (p.Lys82Ile) | |
3 | g.93927335T>C | CA353674599 | PROS1 | c.149A>G (p.Lys50Arg) c.-245A>G (n.-245A>G) n.317A>G c.107A>G (p.Lys36Arg) c.128A>G (p.Lys43Arg) c.245A>G (p.Lys82Arg) | |
3 | g.93927335T>G | CA2503582 | PROS1 | c.149A>C (p.Lys50Thr) c.-245A>C (n.-245A>C) n.317A>C c.107A>C (p.Lys36Thr) c.128A>C (p.Lys43Thr) c.245A>C (p.Lys82Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.93927335T= | CA1385059443 | PROS1 | c.149A= (p.Lys50=) c.-245A= (n.-245A=) n.317A= c.107A= (p.Lys36=) c.128A= (p.Lys43=) c.245A= (p.Lys82=) | |
3 | g.93927336T>A | CA353674601 | PROS1 | c.148A>T (p.Lys50Ter) c.-246A>T (n.-246A>T) n.316A>T c.106A>T (p.Lys36Ter) c.127A>T (p.Lys43Ter) c.244A>T (p.Lys82Ter) | |
3 | g.93927336T>C | CA2503583 | PROS1 | c.148A>G (p.Lys50Glu) c.-246A>G (n.-246A>G) n.316A>G c.106A>G (p.Lys36Glu) c.127A>G (p.Lys43Glu) c.244A>G (p.Lys82Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.93927336T>G | CA353674600 | PROS1 | c.148A>C (p.Lys50Gln) c.-246A>C (n.-246A>C) n.316A>C c.106A>C (p.Lys36Gln) c.127A>C (p.Lys43Gln) c.244A>C (p.Lys82Gln) | |
3 | g.93927336T= | CA1385059450 | PROS1 | c.148A= (p.Lys50=) c.-246A= (n.-246A=) n.316A= c.106A= (p.Lys36=) c.127A= (p.Lys43=) c.244A= (p.Lys82=) | |
3 | g.93927337G>A | CA434462859 | PROS1 | c.147C>T (p.Thr49=) c.-247C>T (n.-247C>T) n.315C>T c.105C>T (p.Thr35=) c.126C>T (p.Thr42=) c.243C>T (p.Thr81=) | |
3 | g.93927337G>C | CA434462860 | PROS1 | c.147C>G (p.Thr49=) c.-247C>G (n.-247C>G) n.315C>G c.105C>G (p.Thr35=) c.126C>G (p.Thr42=) c.243C>G (p.Thr81=) | |
3 | g.93927337G>T | CA434462861 | PROS1 | c.147C>A (p.Thr49=) c.-247C>A (n.-247C>A) n.315C>A c.105C>A (p.Thr35=) c.126C>A (p.Thr42=) c.243C>A (p.Thr81=) | |
3 | g.93927338G>A | CA353674602 | PROS1 | c.146C>T (p.Thr49Ile) c.-248C>T (n.-248C>T) n.314C>T c.104C>T (p.Thr35Ile) c.125C>T (p.Thr42Ile) c.242C>T (p.Thr81Ile) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.93927338G>C | CA353674603 | PROS1 | c.146C>G (p.Thr49Ser) c.-248C>G (n.-248C>G) n.314C>G c.104C>G (p.Thr35Ser) c.125C>G (p.Thr42Ser) c.242C>G (p.Thr81Ser) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.93927338G= | CA1385059460 | PROS1 | c.146C= (p.Thr49=) c.-248C= (n.-248C=) n.314C= c.104C= (p.Thr35=) c.125C= (p.Thr42=) c.242C= (p.Thr81=) | |
3 | g.93927338G>T | CA353674604 | PROS1 | c.146C>A (p.Thr49Asn) c.-248C>A (n.-248C>A) n.314C>A c.104C>A (p.Thr35Asn) c.125C>A (p.Thr42Asn) c.242C>A (p.Thr81Asn) | |
3 | g.93927339T>A | CA353674605 | PROS1 | c.145A>T (p.Thr49Ser) c.-249A>T (n.-249A>T) n.313A>T c.103A>T (p.Thr35Ser) c.124A>T (p.Thr42Ser) c.241A>T (p.Thr81Ser) | |
3 | g.93927339T>C | CA353674606 | PROS1 | c.145A>G (p.Thr49Ala) c.-249A>G (n.-249A>G) n.313A>G c.103A>G (p.Thr35Ala) c.124A>G (p.Thr42Ala) c.241A>G (p.Thr81Ala) | gnomAD v4 COSMIC |
3 | g.93927339T>G | CA353674607 | PROS1 | c.145A>C (p.Thr49Pro) c.-249A>C (n.-249A>C) n.313A>C c.103A>C (p.Thr35Pro) c.124A>C (p.Thr42Pro) c.241A>C (p.Thr81Pro) | |
3 | g.93927340T>A | CA353674608 | PROS1 | c.144A>T (p.Glu48Asp) c.-250A>T (n.-250A>T) n.312A>T c.102A>T (p.Glu34Asp) c.123A>T (p.Glu41Asp) c.240A>T (p.Glu80Asp) | |
3 | g.93927340T>C | CA434462863 | PROS1 | c.144A>G (p.Glu48=) c.-250A>G (n.-250A>G) n.312A>G c.102A>G (p.Glu34=) c.123A>G (p.Glu41=) c.240A>G (p.Glu80=) | |
3 | g.93927340T>G | CA353674609 | PROS1 | c.144A>C (p.Glu48Asp) c.-250A>C (n.-250A>C) n.312A>C c.102A>C (p.Glu34Asp) c.123A>C (p.Glu41Asp) c.240A>C (p.Glu80Asp) | |
3 | g.93927341T>A | CA353674610 | PROS1 | c.143A>T (p.Glu48Val) c.-251A>T (n.-251A>T) n.311A>T c.101A>T (p.Glu34Val) c.122A>T (p.Glu41Val) c.239A>T (p.Glu80Val) | |
3 | g.93927341T>C | CA353674611 | PROS1 | c.143A>G (p.Glu48Gly) c.-251A>G (n.-251A>G) n.311A>G c.101A>G (p.Glu34Gly) c.122A>G (p.Glu41Gly) c.239A>G (p.Glu80Gly) | |
3 | g.93927341T>G | CA353674612 | PROS1 | c.143A>C (p.Glu48Ala) c.-251A>C (n.-251A>C) n.311A>C c.101A>C (p.Glu34Ala) c.122A>C (p.Glu41Ala) c.239A>C (p.Glu80Ala) | |
3 | g.93927342C>A | CA353674613 | PROS1 | c.142G>T (p.Glu48Ter) c.-252G>T (n.-252G>T) n.310G>T c.100G>T (p.Glu34Ter) c.121G>T (p.Glu41Ter) c.238G>T (p.Glu80Ter) | |
3 | g.93927342C>G | CA353674614 | PROS1 | c.142G>C (p.Glu48Gln) c.-252G>C (n.-252G>C) n.310G>C c.100G>C (p.Glu34Gln) c.121G>C (p.Glu41Gln) c.238G>C (p.Glu80Gln) | |
3 | g.93927342C>T | CA353674615 | PROS1 | c.142G>A (p.Glu48Lys) c.-252G>A (n.-252G>A) n.310G>A c.100G>A (p.Glu34Lys) c.121G>A (p.Glu41Lys) c.238G>A (p.Glu80Lys) | |
3 | g.93927343T>A | CA353674616 | PROS1 | c.141A>T (p.Glu47Asp) c.-253A>T (n.-253A>T) n.309A>T c.99A>T (p.Glu33Asp) c.120A>T (p.Glu40Asp) c.237A>T (p.Glu79Asp) | |
3 | g.93927343T>C | CA434462866 | PROS1 | c.141A>G (p.Glu47=) c.-253A>G (n.-253A>G) n.309A>G c.99A>G (p.Glu33=) c.120A>G (p.Glu40=) c.237A>G (p.Glu79=) | |
3 | g.93927343T>G | CA353674617 | PROS1 | c.141A>C (p.Glu47Asp) c.-253A>C (n.-253A>C) n.309A>C c.99A>C (p.Glu33Asp) c.120A>C (p.Glu40Asp) c.237A>C (p.Glu79Asp) | |
3 | g.93927344T>A | CA353674618 | PROS1 | c.140A>T (p.Glu47Val) c.-254A>T (n.-254A>T) n.308A>T c.98A>T (p.Glu33Val) c.119A>T (p.Glu40Val) c.236A>T (p.Glu79Val) | |
3 | g.93927344T>C | CA353674620 | PROS1 | c.140A>G (p.Glu47Gly) c.-254A>G (n.-254A>G) n.308A>G c.98A>G (p.Glu33Gly) c.119A>G (p.Glu40Gly) c.236A>G (p.Glu79Gly) | |
3 | g.93927344T>G | CA353674619 | PROS1 | c.140A>C (p.Glu47Ala) c.-254A>C (n.-254A>C) n.308A>C c.98A>C (p.Glu33Ala) c.119A>C (p.Glu40Ala) c.236A>C (p.Glu79Ala) |