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.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) | |
| 3 | g.93927345C>A | CA353674621 | PROS1 | c.139G>T (p.Glu47Ter) c.-255G>T (n.-255G>T) n.307G>T c.97G>T (p.Glu33Ter) c.118G>T (p.Glu40Ter) c.235G>T (p.Glu79Ter) | ClinVar dbSNP |
| 3 | g.93927345C= | CA1385059468 | PROS1 | c.139G= (p.Glu47=) c.-255G= (n.-255G=) n.307G= c.97G= (p.Glu33=) c.118G= (p.Glu40=) c.235G= (p.Glu79=) | |
| 3 | g.93927345C>G | CA353674622 | PROS1 | c.139G>C (p.Glu47Gln) c.-255G>C (n.-255G>C) n.307G>C c.97G>C (p.Glu33Gln) c.118G>C (p.Glu40Gln) c.235G>C (p.Glu79Gln) | ClinVar dbSNP |
| 3 | g.93927345C>T | CA353674623 | PROS1 | c.139G>A (p.Glu47Lys) c.-255G>A (n.-255G>A) n.307G>A c.97G>A (p.Glu33Lys) c.118G>A (p.Glu40Lys) c.235G>A (p.Glu79Lys) | |
| 3 | g.93927346A>C | CA434462868 | PROS1 | c.138T>G (p.Leu46=) c.-256T>G (n.-256T>G) n.306T>G c.96T>G (p.Leu32=) c.117T>G (p.Leu39=) c.234T>G (p.Leu78=) | |
| 3 | g.93927346A>G | CA434462869 | PROS1 | c.138T>C (p.Leu46=) c.-256T>C (n.-256T>C) n.306T>C c.96T>C (p.Leu32=) c.117T>C (p.Leu39=) c.234T>C (p.Leu78=) | gnomAD v4 |
| 3 | g.93927346A>T | CA434462870 | PROS1 | c.138T>A (p.Leu46=) c.-256T>A (n.-256T>A) n.306T>A c.96T>A (p.Leu32=) c.117T>A (p.Leu39=) c.234T>A (p.Leu78=) | |
| 3 | g.93927347A= | CA1385059474 | PROS1 | c.137T= (p.Leu46=) c.-257T= (n.-257T=) n.305T= c.95T= (p.Leu32=) c.116T= (p.Leu39=) c.233T= (p.Leu78=) | |
| 3 | g.93927347A>C | CA353674624 | PROS1 | c.137T>G (p.Leu46Arg) c.-257T>G (n.-257T>G) n.305T>G c.95T>G (p.Leu32Arg) c.116T>G (p.Leu39Arg) c.233T>G (p.Leu78Arg) | |
| 3 | g.93927347A>G | CA2503584 | PROS1 | c.137T>C (p.Leu46Pro) c.-257T>C (n.-257T>C) n.305T>C c.95T>C (p.Leu32Pro) c.116T>C (p.Leu39Pro) c.233T>C (p.Leu78Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.93927347A>T | CA353674625 | PROS1 | c.137T>A (p.Leu46His) c.-257T>A (n.-257T>A) n.305T>A c.95T>A (p.Leu32His) c.116T>A (p.Leu39His) c.233T>A (p.Leu78His) | |
| 3 | g.93927348G>A | CA353674626 | PROS1 | c.136C>T (p.Leu46Phe) c.-258C>T (n.-258C>T) n.304C>T c.94C>T (p.Leu32Phe) c.115C>T (p.Leu39Phe) c.232C>T (p.Leu78Phe) | |
| 3 | g.93927348G>C | CA353674627 | PROS1 | c.136C>G (p.Leu46Val) c.-258C>G (n.-258C>G) n.304C>G c.94C>G (p.Leu32Val) c.115C>G (p.Leu39Val) c.232C>G (p.Leu78Val) | |
| 3 | g.93927348G>T | CA353674628 | PROS1 | c.136C>A (p.Leu46Ile) c.-258C>A (n.-258C>A) n.304C>A c.94C>A (p.Leu32Ile) c.115C>A (p.Leu39Ile) c.232C>A (p.Leu78Ile) | |
| 3 | g.93927349T>A | CA353674629 | PROS1 | c.135A>T (p.Leu45Phe) c.-259A>T (n.-259A>T) n.303A>T c.93A>T (p.Leu31Phe) c.114A>T (p.Leu38Phe) c.231A>T (p.Leu77Phe) | |
| 3 | g.93927349T>C | CA434462874 | PROS1 | c.135A>G (p.Leu45=) c.-259A>G (n.-259A>G) n.303A>G c.93A>G (p.Leu31=) c.114A>G (p.Leu38=) c.231A>G (p.Leu77=) | |
| 3 | g.93927349T>G | CA353674630 | PROS1 | c.135A>C (p.Leu45Phe) c.-259A>C (n.-259A>C) n.303A>C c.93A>C (p.Leu31Phe) c.114A>C (p.Leu38Phe) c.231A>C (p.Leu77Phe) | |
| 3 | g.93927349_93927350delinsTA | CA1385059482 | PROS1 | c.134_135delinsTA (p.Leu45=) c.-260_-259delinsTA (n.-260_-259delinsTA) n.302_303delinsTA c.92_93delinsTA (p.Leu31=) c.113_114delinsTA (p.Leu38=) c.230_231delinsTA (p.Leu77=) | |
| 3 | g.93927350A>C | CA353674633 | PROS1 | c.134T>G (p.Leu45Ter) c.-260T>G (n.-260T>G) n.302T>G c.92T>G (p.Leu31Ter) c.113T>G (p.Leu38Ter) c.230T>G (p.Leu77Ter) | |
| 3 | g.93927350A>G | CA353674631 | PROS1 | c.134T>C (p.Leu45Ser) c.-260T>C (n.-260T>C) n.302T>C c.92T>C (p.Leu31Ser) c.113T>C (p.Leu38Ser) c.230T>C (p.Leu77Ser) | gnomAD v4 |
| 3 | g.93927350A>T | CA353674632 | PROS1 | c.134T>A (p.Leu45Ter) c.-260T>A (n.-260T>A) n.302T>A c.92T>A (p.Leu31Ter) c.113T>A (p.Leu38Ter) c.230T>A (p.Leu77Ter) | |
| 3 | g.93927352dup | CA2666655725 | PROS1 | c.134dup (p.Leu45PhefsTer3) c.-260dup (n.-260dup) n.302dup c.92dup (p.Leu31PhefsTer3) c.113dup (p.Leu38PhefsTer3) c.230dup (p.Leu77PhefsTer3) | gnomAD v4 |
| 3 | g.93927352del | CA2503585 | PROS1 | c.134del (p.Leu45TyrfsTer?) c.-260del (n.-260del) n.302del c.92del (p.Leu31TyrfsTer?) c.113del (p.Leu38TyrfsTer?) c.230del (p.Leu77TyrfsTer?) | dbSNP ExAC |
| 3 | g.93927351A>C | CA353674634 | PROS1 | c.133T>G (p.Leu45Val) c.-261T>G (n.-261T>G) n.301T>G c.91T>G (p.Leu31Val) c.112T>G (p.Leu38Val) c.229T>G (p.Leu77Val) | |
| 3 | g.93927351A>G | CA434462876 | PROS1 | c.133T>C (p.Leu45=) c.-261T>C (n.-261T>C) n.301T>C c.91T>C (p.Leu31=) c.112T>C (p.Leu38=) c.229T>C (p.Leu77=) | |
| 3 | g.93927351A>T | CA353674635 | PROS1 | c.133T>A (p.Leu45Ile) c.-261T>A (n.-261T>A) n.301T>A c.91T>A (p.Leu31Ile) c.112T>A (p.Leu38Ile) c.229T>A (p.Leu77Ile) | |
| 3 | g.93927352A>C | CA434462879 | PROS1 | c.132T>G (p.Ser44=) c.-262T>G (n.-262T>G) n.300T>G c.90T>G (p.Ser30=) c.111T>G (p.Ser37=) c.228T>G (p.Ser76=) | |
| 3 | g.93927352A>G | CA434462878 | PROS1 | c.132T>C (p.Ser44=) c.-262T>C (n.-262T>C) n.300T>C c.90T>C (p.Ser30=) c.111T>C (p.Ser37=) c.228T>C (p.Ser76=) | |
| 3 | g.93927352A>T | CA434462877 | PROS1 | c.132T>A (p.Ser44=) c.-262T>A (n.-262T>A) n.300T>A c.90T>A (p.Ser30=) c.111T>A (p.Ser37=) c.228T>A (p.Ser76=) | |
| 3 | g.93927353G>A | CA353674636 | PROS1 | c.131C>T (p.Ser44Phe) c.-263C>T (n.-263C>T) n.299C>T c.89C>T (p.Ser30Phe) c.110C>T (p.Ser37Phe) c.227C>T (p.Ser76Phe) | |
| 3 | g.93927353G>C | CA353674637 | PROS1 | c.131C>G (p.Ser44Cys) c.-263C>G (n.-263C>G) n.299C>G c.89C>G (p.Ser30Cys) c.110C>G (p.Ser37Cys) c.227C>G (p.Ser76Cys) | |
| 3 | g.93927353G>T | CA353674638 | PROS1 | c.131C>A (p.Ser44Tyr) c.-263C>A (n.-263C>A) n.299C>A c.89C>A (p.Ser30Tyr) c.110C>A (p.Ser37Tyr) c.227C>A (p.Ser76Tyr) | ClinVar |
| 3 | g.93927354A>C | CA353674639 | PROS1 | c.130T>G (p.Ser44Ala) c.-264T>G (n.-264T>G) n.298T>G c.88T>G (p.Ser30Ala) c.109T>G (p.Ser37Ala) c.226T>G (p.Ser76Ala) | |
| 3 | g.93927354A>G | CA353674640 | PROS1 | c.130T>C (p.Ser44Pro) c.-264T>C (n.-264T>C) n.298T>C c.88T>C (p.Ser30Pro) c.109T>C (p.Ser37Pro) c.226T>C (p.Ser76Pro) |