WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| 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.93927326T>A | CA353674576 | PROS1 | c.158A>T (p.Asn53Ile) c.-236A>T (n.-236A>T) n.326A>T c.116A>T (p.Asn39Ile) c.137A>T (p.Asn46Ile) c.254A>T (p.Asn85Ile) | |
| 3 | g.93927326T>C | CA353674577 | PROS1 | c.158A>G (p.Asn53Ser) c.-236A>G (n.-236A>G) n.326A>G c.116A>G (p.Asn39Ser) c.137A>G (p.Asn46Ser) c.254A>G (p.Asn85Ser) | |
| 3 | g.93927326T>G | CA353674578 | PROS1 | c.158A>C (p.Asn53Thr) c.-236A>C (n.-236A>C) n.326A>C c.116A>C (p.Asn39Thr) c.137A>C (p.Asn46Thr) c.254A>C (p.Asn85Thr) | gnomAD v4 |
| 3 | g.93927327T>A | CA353674579 | PROS1 | c.157A>T (p.Asn53Tyr) c.-237A>T (n.-237A>T) n.325A>T c.115A>T (p.Asn39Tyr) c.136A>T (p.Asn46Tyr) c.253A>T (p.Asn85Tyr) | |
| 3 | g.93927327T>C | CA353674580 | PROS1 | c.157A>G (p.Asn53Asp) c.-237A>G (n.-237A>G) n.325A>G c.115A>G (p.Asn39Asp) c.136A>G (p.Asn46Asp) c.253A>G (p.Asn85Asp) | |
| 3 | g.93927327T>G | CA353674581 | PROS1 | c.157A>C (p.Asn53His) c.-237A>C (n.-237A>C) n.325A>C c.115A>C (p.Asn39His) c.136A>C (p.Asn46His) c.253A>C (p.Asn85His) | |
| 3 | g.93927328A>C | CA434462847 | PROS1 | c.156T>G (p.Gly52=) c.-238T>G (n.-238T>G) n.324T>G c.114T>G (p.Gly38=) c.135T>G (p.Gly45=) c.252T>G (p.Gly84=) | |
| 3 | g.93927328A>G | CA434462848 | PROS1 | c.156T>C (p.Gly52=) c.-238T>C (n.-238T>C) n.324T>C c.114T>C (p.Gly38=) c.135T>C (p.Gly45=) c.252T>C (p.Gly84=) | gnomAD v3 gnomAD v4 |
| 3 | g.93927328A>T | CA434462849 | PROS1 | c.156T>A (p.Gly52=) c.-238T>A (n.-238T>A) n.324T>A c.114T>A (p.Gly38=) c.135T>A (p.Gly45=) c.252T>A (p.Gly84=) | |
| 3 | g.93927329C>A | CA353674582 | PROS1 | c.155G>T (p.Gly52Val) c.-239G>T (n.-239G>T) n.323G>T c.113G>T (p.Gly38Val) c.134G>T (p.Gly45Val) c.251G>T (p.Gly84Val) | |
| 3 | g.93927329C= | CA1385059421 | PROS1 | c.155G= (p.Gly52=) c.-239G= (n.-239G=) n.323G= c.113G= (p.Gly38=) c.134G= (p.Gly45=) c.251G= (p.Gly84=) | |
| 3 | g.93927329C>G | CA353674583 | PROS1 | c.155G>C (p.Gly52Ala) c.-239G>C (n.-239G>C) n.323G>C c.113G>C (p.Gly38Ala) c.134G>C (p.Gly45Ala) c.251G>C (p.Gly84Ala) | |
| 3 | g.93927329C>T | CA353674584 | PROS1 | c.155G>A (p.Gly52Asp) c.-239G>A (n.-239G>A) n.323G>A c.113G>A (p.Gly38Asp) c.134G>A (p.Gly45Asp) c.251G>A (p.Gly84Asp) | dbSNP |
| 3 | g.93927330C>A | CA353674585 | PROS1 | c.154G>T (p.Gly52Cys) c.-240G>T (n.-240G>T) n.322G>T c.112G>T (p.Gly38Cys) c.133G>T (p.Gly45Cys) c.250G>T (p.Gly84Cys) | |
| 3 | g.93927330C>G | CA353674586 | PROS1 | c.154G>C (p.Gly52Arg) c.-240G>C (n.-240G>C) n.322G>C c.112G>C (p.Gly38Arg) c.133G>C (p.Gly45Arg) c.250G>C (p.Gly84Arg) | ClinVar dbSNP |
| 3 | g.93927330C>T | CA353674587 | PROS1 | c.154G>A (p.Gly52Ser) c.-240G>A (n.-240G>A) n.322G>A c.112G>A (p.Gly38Ser) c.133G>A (p.Gly45Ser) c.250G>A (p.Gly84Ser) | |
| 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 |