UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.23203797T>A | CA387502558 | SGCG | c.103T>A (p.Cys35Ser) c.157T>A (p.Cys53Ser) | gnomAD v4 |
| 13 | g.23203797T>C | CA387502559 | SGCG | c.103T>C (p.Cys35Arg) c.157T>C (p.Cys53Arg) | |
| 13 | g.23203797T>G | CA387502560 | SGCG | c.103T>G (p.Cys35Gly) c.157T>G (p.Cys53Gly) | |
| 13 | g.23203798G>A | CA6909573 | SGCG | c.104G>A (p.Cys35Tyr) c.158G>A (p.Cys53Tyr) | dbSNP ExAC gnomAD v2 |
| 13 | g.23203798G>C | CA387502563 | SGCG | c.104G>C (p.Cys35Ser) c.158G>C (p.Cys53Ser) | gnomAD v4 |
| 13 | g.23203798G= | CA2078579944 | SGCG | c.104G= (p.Cys35=) c.158G= (p.Cys53=) | |
| 13 | g.23203798G>T | CA6909572 | SGCG | c.104G>T (p.Cys35Phe) c.158G>T (p.Cys53Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.23203799T>A | CA6909574 | SGCG | c.105T>A (p.Cys35Ter) c.159T>A (p.Cys53Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.23203799T>C | CA482903178 | SGCG | c.105T>C (p.Cys35=) c.159T>C (p.Cys53=) | gnomAD v4 |
| 13 | g.23203799T>G | CA387502566 | SGCG | c.105T>G (p.Cys35Trp) c.159T>G (p.Cys53Trp) | |
| 13 | g.23203799T= | CA2078579945 | SGCG | c.105T= (p.Cys35=) c.159T= (p.Cys53=) | |
| 13 | g.23203800C>A | CA387502567 | SGCG | c.106C>A (p.Leu36Ile) c.160C>A (p.Leu54Ile) | |
| 13 | g.23203800C>G | CA387502568 | SGCG | c.106C>G (p.Leu36Val) c.160C>G (p.Leu54Val) | |
| 13 | g.23203800C>T | CA387502569 | SGCG | c.106C>T (p.Leu36Phe) c.160C>T (p.Leu54Phe) | |
| 13 | g.23203801T>A | CA387502574 | SGCG | c.107T>A (p.Leu36His) c.161T>A (p.Leu54His) | |
| 13 | g.23203801T>C | CA387502570 | SGCG | c.107T>C (p.Leu36Pro) c.161T>C (p.Leu54Pro) | |
| 13 | g.23203801T>G | CA387502572 | SGCG | c.107T>G (p.Leu36Arg) c.161T>G (p.Leu54Arg) | gnomAD v4 |
| 13 | g.23203802C>A | CA482903179 | SGCG | c.108C>A (p.Leu36=) c.162C>A (p.Leu54=) | |
| 13 | g.23203802C>G | CA482903180 | SGCG | c.108C>G (p.Leu36=) c.162C>G (p.Leu54=) | COSMIC |
| 13 | g.23203802C>T | CA482903181 | SGCG | c.108C>T (p.Leu36=) c.162C>T (p.Leu54=) | |
| 13 | g.23203803T>A | CA387502577 | SGCG | c.109T>A (p.Tyr37Asn) c.163T>A (p.Tyr55Asn) | |
| 13 | g.23203803T>C | CA387502578 | SGCG | c.109T>C (p.Tyr37His) c.163T>C (p.Tyr55His) | |
| 13 | g.23203803T>G | CA387502580 | SGCG | c.109T>G (p.Tyr37Asp) c.163T>G (p.Tyr55Asp) | |
| 13 | g.23203804A= | CA2078579946 | SGCG | c.110A= (p.Tyr37=) c.164A= (p.Tyr55=) | |
| 13 | g.23203804A>C | CA387502583 | SGCG | c.110A>C (p.Tyr37Ser) c.164A>C (p.Tyr55Ser) | |
| 13 | g.23203804A>G | CA6909575 | SGCG | c.110A>G (p.Tyr37Cys) c.164A>G (p.Tyr55Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.23203804A>T | CA387502584 | SGCG | c.110A>T (p.Tyr37Phe) c.164A>T (p.Tyr55Phe) | |
| 13 | g.23203805C>A | CA387502586 | SGCG | c.111C>A (p.Tyr37Ter) c.165C>A (p.Tyr55Ter) | |
| 13 | g.23203805C= | CA2078579947 | SGCG | c.111C= (p.Tyr37=) c.165C= (p.Tyr55=) | |
| 13 | g.23203805C>G | CA387502592 | SGCG | c.111C>G (p.Tyr37Ter) c.165C>G (p.Tyr55Ter) | |
| 13 | g.23203805C>T | CA6909576 | SGCG | c.111C>T (p.Tyr37=) c.165C>T (p.Tyr55=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.23203806T>A | CA387502595 | SGCG | c.112T>A (p.Leu38Met) c.166T>A (p.Leu56Met) | |
| 13 | g.23203806T>C | CA6909577 | SGCG | c.112T>C (p.Leu38=) c.166T>C (p.Leu56=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.23203806T>G | CA387502599 | SGCG | c.112T>G (p.Leu38Val) c.166T>G (p.Leu56Val) | |
| 13 | g.23203806T= | CA2018046956 | SGCG | c.112T= (p.Leu38=) c.166T= (p.Leu56=) | |
| 13 | g.23203807T>A | CA387502605 | SGCG | c.113T>A (p.Leu38Ter) c.167T>A (p.Leu56Ter) | |
| 13 | g.23203807T>C | CA387502603 | SGCG | c.113T>C (p.Leu38Ser) c.167T>C (p.Leu56Ser) | |
| 13 | g.23203807T>G | CA387502601 | SGCG | c.113T>G (p.Leu38Trp) c.167T>G (p.Leu56Trp) | |
| 13 | g.23203808G>A | CA482903182 | SGCG | c.114G>A (p.Leu38=) c.168G>A (p.Leu56=) | |
| 13 | g.23203808G>C | CA387502606 | SGCG | c.114G>C (p.Leu38Phe) c.168G>C (p.Leu56Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.23203808G= | CA2078579948 | SGCG | c.114G= (p.Leu38=) c.168G= (p.Leu56=) | |
| 13 | g.23203808G>T | CA387502607 | SGCG | c.114G>T (p.Leu38Phe) c.168G>T (p.Leu56Phe) | |
| 13 | g.23203809T>A | CA387502608 | SGCG | c.115T>A (p.Phe39Ile) c.169T>A (p.Phe57Ile) | |
| 13 | g.23203809T>C | CA387502612 | SGCG | c.115T>C (p.Phe39Leu) c.169T>C (p.Phe57Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.23203809T>G | CA387502610 | SGCG | c.115T>G (p.Phe39Val) c.169T>G (p.Phe57Val) | dbSNP |
| 13 | g.23203809T= | CA2078579949 | SGCG | c.115T= (p.Phe39=) c.169T= (p.Phe57=) | |
| 13 | g.23203810T>A | CA387502614 | SGCG | c.116T>A (p.Phe39Tyr) c.170T>A (p.Phe57Tyr) | |
| 13 | g.23203810T>C | CA387502617 | SGCG | c.116T>C (p.Phe39Ser) c.170T>C (p.Phe57Ser) | |
| 13 | g.23203810T>G | CA387502615 | SGCG | c.116T>G (p.Phe39Cys) c.170T>G (p.Phe57Cys) | |
| 13 | g.23203811T>A | CA387502618 | SGCG | c.117T>A (p.Phe39Leu) c.171T>A (p.Phe57Leu) | ClinVar dbSNP |
| 13 | g.23203811T>C | CA482903183 | SGCG | c.117T>C (p.Phe39=) c.171T>C (p.Phe57=) | gnomAD v4 |
| 13 | g.23203811T>G | CA387502620 | SGCG | c.117T>G (p.Phe39Leu) c.171T>G (p.Phe57Leu) | ClinVar dbSNP |
| 13 | g.23203811T= | CA2078579950 | SGCG | c.117T= (p.Phe39=) c.171T= (p.Phe57=) | |
| 13 | g.23203812G>A | CA6909578 | SGCG | c.118G>A (p.Val40Ile) c.172G>A (p.Val58Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.23203812G>C | CA10606138 | SGCG | c.118G>C (p.Val40Leu) c.172G>C (p.Val58Leu) | ClinVar dbSNP gnomAD v4 |
| 13 | g.23203812G= | CA2078579952 | SGCG | c.118G= (p.Val40=) c.172G= (p.Val58=) | |
| 13 | g.23203812G>T | CA387502624 | SGCG | c.118G>T (p.Val40Phe) c.172G>T (p.Val58Phe) | |
| 13 | g.23203812_23203815delinsGTTC | CA2078579951 | SGCG | c.118_121delinsGTTC (p.Val40=) c.172_175delinsGTTC (p.Val58=) | |
| 13 | g.23203813T>A | CA387502625 | SGCG | c.119T>A (p.Val40Asp) c.173T>A (p.Val58Asp) | |
| 13 | g.23203813T>C | CA387502627 | SGCG | c.119T>C (p.Val40Ala) c.173T>C (p.Val58Ala) | |
| 13 | g.23203813T>G | CA387502628 | SGCG | c.119T>G (p.Val40Gly) c.173T>G (p.Val58Gly) | |
| 13 | g.23203818_23203820del | CA608985111 | SGCG | c.124_126del (p.Leu42del) c.178_180del (p.Leu60del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23203814T>A | CA482903186 | SGCG | c.120T>A (p.Val40=) c.174T>A (p.Val58=) | |
| 13 | g.23203814T>C | CA246629014 | SGCG | c.120T>C (p.Val40=) c.174T>C (p.Val58=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.23203814T>G | CA482903185 | SGCG | c.120T>G (p.Val40=) c.174T>G (p.Val58=) | |
| 13 | g.23203814T= | CA2078579953 | SGCG | c.120T= (p.Val40=) c.174T= (p.Val58=) | |
| 13 | g.23203815C>A | CA387502629 | SGCG | c.121C>A (p.Leu41Ile) c.175C>A (p.Leu59Ile) | |
| 13 | g.23203815C>G | CA387502630 | SGCG | c.121C>G (p.Leu41Val) c.175C>G (p.Leu59Val) | |
| 13 | g.23203815C>T | CA387502631 | SGCG | c.121C>T (p.Leu41Phe) c.175C>T (p.Leu59Phe) | gnomAD v3 gnomAD v4 |
| 13 | g.23203816T>A | CA387502632 | SGCG | c.122T>A (p.Leu41His) c.176T>A (p.Leu59His) | |
| 13 | g.23203816T>C | CA387502633 | SGCG | c.122T>C (p.Leu41Pro) c.176T>C (p.Leu59Pro) | |
| 13 | g.23203816T>G | CA387502634 | SGCG | c.122T>G (p.Leu41Arg) c.176T>G (p.Leu59Arg) | gnomAD v4 |
| 13 | g.23203817T>A | CA482903188 | SGCG | c.123T>A (p.Leu41=) c.177T>A (p.Leu59=) | |
| 13 | g.23203817T>C | CA482903189 | SGCG | c.123T>C (p.Leu41=) c.177T>C (p.Leu59=) | |
| 13 | g.23203817T>G | CA482903190 | SGCG | c.123T>G (p.Leu41=) c.177T>G (p.Leu59=) | |
| 13 | g.23203818C>A | CA387502638 | SGCG | c.124C>A (p.Leu42Ile) c.178C>A (p.Leu60Ile) | |
| 13 | g.23203818C>G | CA387502635 | SGCG | c.124C>G (p.Leu42Val) c.178C>G (p.Leu60Val) | |
| 13 | g.23203818C>T | CA387502636 | SGCG | c.124C>T (p.Leu42Phe) c.178C>T (p.Leu60Phe) | |
| 13 | g.23203819T>A | CA387502640 | SGCG | c.125T>A (p.Leu42His) c.179T>A (p.Leu60His) | gnomAD v4 |
| 13 | g.23203819T>C | CA387502642 | SGCG | c.125T>C (p.Leu42Pro) c.179T>C (p.Leu60Pro) | |
| 13 | g.23203819T>G | CA387502644 | SGCG | c.125T>G (p.Leu42Arg) c.179T>G (p.Leu60Arg) | gnomAD v4 |
| 13 | g.23203820T>A | CA482903191 | SGCG | c.126T>A (p.Leu42=) c.180T>A (p.Leu60=) | |
| 13 | g.23203820T>C | CA482903192 | SGCG | c.126T>C (p.Leu42=) c.180T>C (p.Leu60=) | gnomAD v4 |
| 13 | g.23203820T>G | CA482903193 | SGCG | c.126T>G (p.Leu42=) c.180T>G (p.Leu60=) | gnomAD v4 |
| 13 | g.23203821T>A | CA387502645 | SGCG | c.127T>A (p.Leu43Ile) c.181T>A (p.Leu61Ile) | |
| 13 | g.23203821T>C | CA482903194 | SGCG | c.127T>C (p.Leu43=) c.181T>C (p.Leu61=) | |
| 13 | g.23203821T>G | CA387502647 | SGCG | c.127T>G (p.Leu43Val) c.181T>G (p.Leu61Val) | |
| 13 | g.23203822T>A | CA387502649 | SGCG | c.128T>A (p.Leu43Ter) c.182T>A (p.Leu61Ter) | ClinVar dbSNP gnomAD v4 |
| 13 | g.23203822T>C | CA387502651 | SGCG | c.128T>C (p.Leu43Ser) c.182T>C (p.Leu61Ser) | |
| 13 | g.23203822T>G | CA387502653 | SGCG | c.128T>G (p.Leu43Ter) c.182T>G (p.Leu61Ter) | |
| 13 | g.23203823A= | CA2078579954 | SGCG | c.129A= (p.Leu43=) c.183A= (p.Leu61=) | |
| 13 | g.23203823A>C | CA387502655 | SGCG | c.129A>C (p.Leu43Phe) c.183A>C (p.Leu61Phe) | |
| 13 | g.23203823A>G | CA482903195 | SGCG | c.129A>G (p.Leu43=) c.183A>G (p.Leu61=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.23203823A>T | CA387502657 | SGCG | c.129A>T (p.Leu43Phe) c.183A>T (p.Leu61Phe) | |
| 13 | g.23203824C>A | CA387502660 | SGCG | c.130C>A (p.Leu44Ile) c.184C>A (p.Leu62Ile) | |
| 13 | g.23203824C>G | CA387502659 | SGCG | c.130C>G (p.Leu44Val) c.184C>G (p.Leu62Val) | |
| 13 | g.23203824C>T | CA387502658 | SGCG | c.130C>T (p.Leu44Phe) c.184C>T (p.Leu62Phe) | |
| 13 | g.23203825T>A | CA387502663 | SGCG | c.131T>A (p.Leu44His) c.185T>A (p.Leu62His) | COSMIC |
| 13 | g.23203825T>C | CA387502664 | SGCG | c.131T>C (p.Leu44Pro) c.185T>C (p.Leu62Pro) | |
| 13 | g.23203825T>G | CA387502666 | SGCG | c.131T>G (p.Leu44Arg) c.185T>G (p.Leu62Arg) | |
| 13 | g.23203830_23203832del | CA2622326029 | SGCG | c.136_138del (p.Ile46del) c.190_192del (p.Ile64del) | gnomAD v4 |
| 13 | g.23203826C>A | CA482903196 | SGCG | c.132C>A (p.Leu44=) c.186C>A (p.Leu62=) | |
| 13 | g.23203826C= | CA2078579955 | SGCG | c.132C= (p.Leu44=) c.186C= (p.Leu62=) | |
| 13 | g.23203826C>G | CA482903197 | SGCG | c.132C>G (p.Leu44=) c.186C>G (p.Leu62=) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.23203826C>T | CA482903198 | SGCG | c.132C>T (p.Leu44=) c.186C>T (p.Leu62=) | |
| 13 | g.23203826_23203827del | CA912980119 | SGCG | c.132_133del (p.Ile45HisfsTer14) c.186_187del (p.Ile63HisfsTer14) | |
| 13 | g.23203826_23203827delinsCA | CA2078579956 | SGCG | c.132_133delinsCA (p.Leu44=) c.186_187delinsCA (p.Leu62=) | |
| 13 | g.23203827del | CA658823445 | SGCG | c.133del (p.Ile45SerfsTer5) c.187del (p.Ile63SerfsTer5) | ClinVar dbSNP |
| 13 | g.23203827A= | CA2078579957 | SGCG | c.133A= (p.Ile45=) c.187A= (p.Ile63=) | |
| 13 | g.23203827A>C | CA387502668 | SGCG | c.133A>C (p.Ile45Leu) c.187A>C (p.Ile63Leu) | |
| 13 | g.23203827A>G | CA6909579 | SGCG | c.133A>G (p.Ile45Val) c.187A>G (p.Ile63Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.23203827A>T | CA387502672 | SGCG | c.133A>T (p.Ile45Phe) c.187A>T (p.Ile63Phe) | gnomAD v4 |
| 13 | g.23203828T>A | CA387502674 | SGCG | c.134T>A (p.Ile45Asn) c.188T>A (p.Ile63Asn) | |
| 13 | g.23203828T>C | CA387502676 | SGCG | c.134T>C (p.Ile45Thr) c.188T>C (p.Ile63Thr) | |
| 13 | g.23203828T>G | CA387502679 | SGCG | c.134T>G (p.Ile45Ser) c.188T>G (p.Ile63Ser) | |
| 13 | g.23203829C>A | CA482903199 | SGCG | c.135C>A (p.Ile45=) c.189C>A (p.Ile63=) | |
| 13 | g.23203829C>G | CA387502680 | SGCG | c.135C>G (p.Ile45Met) c.189C>G (p.Ile63Met) | |
| 13 | g.23203829C>T | CA482903200 | SGCG | c.135C>T (p.Ile45=) c.189C>T (p.Ile63=) | COSMIC |
| 13 | g.23203830A= | CA2078579958 | SGCG | c.136A= (p.Ile46=) c.190A= (p.Ile64=) | |
| 13 | g.23203830A>C | CA387502682 | SGCG | c.136A>C (p.Ile46Leu) c.190A>C (p.Ile64Leu) | |
| 13 | g.23203830A>G | CA387502684 | SGCG | c.136A>G (p.Ile46Val) c.190A>G (p.Ile64Val) | dbSNP gnomAD v4 |
| 13 | g.23203830A>T | CA387502685 | SGCG | c.136A>T (p.Ile46Phe) c.190A>T (p.Ile64Phe) | |
| 13 | g.23203831T>A | CA387502687 | SGCG | c.137T>A (p.Ile46Asn) c.191T>A (p.Ile64Asn) | COSMIC |
| 13 | g.23203831T>C | CA387502690 | SGCG | c.137T>C (p.Ile46Thr) c.191T>C (p.Ile64Thr) | |
| 13 | g.23203831T>G | CA246629015 | SGCG | c.137T>G (p.Ile46Ser) c.191T>G (p.Ile64Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23203831T= | CA2078579959 | SGCG | c.137T= (p.Ile46=) c.191T= (p.Ile64=) | |
| 13 | g.23203832C>A | CA482903201 | SGCG | c.138C>A (p.Ile46=) c.192C>A (p.Ile64=) | |
| 13 | g.23203832C= | CA2078579960 | SGCG | c.138C= (p.Ile46=) c.192C= (p.Ile64=) | |
| 13 | g.23203832C>G | CA387502692 | SGCG | c.138C>G (p.Ile46Met) c.192C>G (p.Ile64Met) | |
| 13 | g.23203832C>T | CA482903202 | SGCG | c.138C>T (p.Ile46=) c.192C>T (p.Ile64=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.23203833C>A | CA387502693 | SGCG | c.139C>A (p.Leu47Ile) c.193C>A (p.Leu65Ile) | |
| 13 | g.23203833C= | CA2078579961 | SGCG | c.139C= (p.Leu47=) c.193C= (p.Leu65=) | |
| 13 | g.23203833C>G | CA387502695 | SGCG | c.139C>G (p.Leu47Val) c.193C>G (p.Leu65Val) | |
| 13 | g.23203833C>T | CA387502696 | SGCG | c.139C>T (p.Leu47Phe) c.193C>T (p.Leu65Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23203834T>A | CA387502697 | SGCG | c.140T>A (p.Leu47His) c.194T>A (p.Leu65His) | |
| 13 | g.23203834T>C | CA387502698 | SGCG | c.140T>C (p.Leu47Pro) c.194T>C (p.Leu65Pro) | gnomAD v4 |
| 13 | g.23203834T>G | CA387502702 | SGCG | c.140T>G (p.Leu47Arg) c.194T>G (p.Leu65Arg) | |
| 13 | g.23203835C>A | CA482903205 | SGCG | c.141C>A (p.Leu47=) c.195C>A (p.Leu65=) | |
| 13 | g.23203835C= | CA2078579962 | SGCG | c.141C= (p.Leu47=) c.195C= (p.Leu65=) | |
| 13 | g.23203835C>G | CA482903204 | SGCG | c.141C>G (p.Leu47=) c.195C>G (p.Leu65=) | |
| 13 | g.23203835C>T | CA482903203 | SGCG | c.141C>T (p.Leu47=) c.195C>T (p.Leu65=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 13 | g.23203836G>A | CA6909580 | SGCG | c.142G>A (p.Val48Ile) c.196G>A (p.Val66Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23203836G>C | CA6909581 | SGCG | c.142G>C (p.Val48Leu) c.196G>C (p.Val66Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.23203836G= | CA2078579963 | SGCG | c.142G= (p.Val48=) c.196G= (p.Val66=) | |
| 13 | g.23203836G>T | CA6909582 | SGCG | c.142G>T (p.Val48Phe) c.196G>T (p.Val66Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23203838_23203840del | CA2622326030 | SGCG | c.144_146del (p.Val49del) c.198_200del (p.Val67del) | gnomAD v4 |
| 13 | g.23203837T>A | CA387502711 | SGCG | c.143T>A (p.Val48Asp) c.197T>A (p.Val66Asp) | |
| 13 | g.23203837T>C | CA6909583 | SGCG | c.143T>C (p.Val48Ala) c.197T>C (p.Val66Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23203837T>G | CA387502710 | SGCG | c.143T>G (p.Val48Gly) c.197T>G (p.Val66Gly) | |
| 13 | g.23203837T= | CA2078579964 | SGCG | c.143T= (p.Val48=) c.197T= (p.Val66=) | |
| 13 | g.23203838T>A | CA482903206 | SGCG | c.144T>A (p.Val48=) c.198T>A (p.Val66=) | |
| 13 | g.23203838T>C | CA482903207 | SGCG | c.144T>C (p.Val48=) c.198T>C (p.Val66=) | |
| 13 | g.23203838T>G | CA482903208 | SGCG | c.144T>G (p.Val48=) c.198T>G (p.Val66=) | |
| 13 | g.23203839G>A | CA387502712 | SGCG | c.145G>A (p.Val49Met) c.199G>A (p.Val67Met) | gnomAD v4 |
| 13 | g.23203839G>C | CA387502713 | SGCG | c.145G>C (p.Val49Leu) c.199G>C (p.Val67Leu) | |
| 13 | g.23203839G>T | CA387502714 | SGCG | c.145G>T (p.Val49Leu) c.199G>T (p.Val67Leu) | |
| 13 | g.23203840T>A | CA387502716 | SGCG | c.146T>A (p.Val49Glu) c.200T>A (p.Val67Glu) | COSMIC |
| 13 | g.23203840T>C | CA387502717 | SGCG | c.146T>C (p.Val49Ala) c.200T>C (p.Val67Ala) | |
| 13 | g.23203840T>G | CA387502718 | SGCG | c.146T>G (p.Val49Gly) c.200T>G (p.Val67Gly) | |
| 13 | g.23203841G>A | CA482903209 | SGCG | c.147G>A (p.Val49=) c.201G>A (p.Val67=) | |
| 13 | g.23203841G>C | CA482903211 | SGCG | c.147G>C (p.Val49=) c.201G>C (p.Val67=) | |
| 13 | g.23203841G>T | CA482903210 | SGCG | c.147G>T (p.Val49=) c.201G>T (p.Val67=) | |
| 13 | g.23203842A>C | CA387502720 | SGCG | c.148A>C (p.Asn50His) c.202A>C (p.Asn68His) | |
| 13 | g.23203842A>G | CA387502722 | SGCG | c.148A>G (p.Asn50Asp) c.202A>G (p.Asn68Asp) | |
| 13 | g.23203842A>T | CA387502723 | SGCG | c.148A>T (p.Asn50Tyr) c.202A>T (p.Asn68Tyr) | |
| 13 | g.23203843A= | CA2078579965 | SGCG | c.149A= (p.Asn50=) c.203A= (p.Asn68=) | |
| 13 | g.23203843A>C | CA387502724 | SGCG | c.149A>C (p.Asn50Thr) c.203A>C (p.Asn68Thr) | dbSNP |
| 13 | g.23203843A>G | CA387502725 | SGCG | c.149A>G (p.Asn50Ser) c.203A>G (p.Asn68Ser) | |
| 13 | g.23203843A>T | CA387502727 | SGCG | c.149A>T (p.Asn50Ile) c.203A>T (p.Asn68Ile) | |
| 13 | g.23203843_23203844delinsAT | CA2078579966 | SGCG | c.149_150delinsAT (p.Asn50=) c.203_204delinsAT (p.Asn68=) | |
| 13 | g.23203844T>A | CA387502729 | SGCG | c.150T>A (p.Asn50Lys) c.204T>A (p.Asn68Lys) | ClinVar dbSNP |
| 13 | g.23203844T>C | CA482903212 | SGCG | c.150T>C (p.Asn50=) c.204T>C (p.Asn68=) | |
| 13 | g.23203844T>G | CA387502731 | SGCG | c.150T>G (p.Asn50Lys) c.204T>G (p.Asn68Lys) | |
| 13 | g.23203846del | CA482903213 | SGCG | c.152del (p.Leu51Ter) c.206del (p.Leu69Ter) | dbSNP gnomAD v4 |
| 13 | g.23203845T>A | CA387502734 | SGCG | c.151T>A (p.Leu51Ile) c.205T>A (p.Leu69Ile) | |
| 13 | g.23203845T>C | CA482903214 | SGCG | c.151T>C (p.Leu51=) c.205T>C (p.Leu69=) | |
| 13 | g.23203845T>G | CA387502732 | SGCG | c.151T>G (p.Leu51Val) c.205T>G (p.Leu69Val) | |
| 13 | g.23203846T>A | CA387502737 | SGCG | c.152T>A (p.Leu51Ter) c.206T>A (p.Leu69Ter) | |
| 13 | g.23203846T>C | CA387502739 | SGCG | c.152T>C (p.Leu51Ser) c.206T>C (p.Leu69Ser) | dbSNP |
| 13 | g.23203846T>G | CA387502741 | SGCG | c.152T>G (p.Leu51Ter) c.206T>G (p.Leu69Ter) | |
| 13 | g.23203846T= | CA2078579967 | SGCG | c.152T= (p.Leu51=) c.206T= (p.Leu69=) | |
| 13 | g.23203847A>C | CA387502744 | SGCG | c.153A>C (p.Leu51Phe) c.207A>C (p.Leu69Phe) | |
| 13 | g.23203847A>G | CA482903215 | SGCG | c.153A>G (p.Leu51=) c.207A>G (p.Leu69=) | |
| 13 | g.23203847A>T | CA387502746 | SGCG | c.153A>T (p.Leu51Phe) c.207A>T (p.Leu69Phe) | |
| 13 | g.23203848G>A | CA387502752 | SGCG | c.154G>A (p.Ala52Thr) c.208G>A (p.Ala70Thr) | gnomAD v4 |
| 13 | g.23203848G>C | CA387502751 | SGCG | c.154G>C (p.Ala52Pro) c.208G>C (p.Ala70Pro) | gnomAD v4 |
| 13 | g.23203848G>T | CA387502749 | SGCG | c.154G>T (p.Ala52Ser) c.208G>T (p.Ala70Ser) | |
| 13 | g.23203849C>A | CA387502755 | SGCG | c.155C>A (p.Ala52Asp) c.209C>A (p.Ala70Asp) | |
| 13 | g.23203849C>G | CA387502757 | SGCG | c.155C>G (p.Ala52Gly) c.209C>G (p.Ala70Gly) | |
| 13 | g.23203849C>T | CA387502758 | SGCG | c.155C>T (p.Ala52Val) c.209C>T (p.Ala70Val) | |
| 13 | g.23203850T>A | CA482903218 | SGCG | c.156T>A (p.Ala52=) c.210T>A (p.Ala70=) | |
| 13 | g.23203850T>C | CA482903217 | SGCG | c.156T>C (p.Ala52=) c.210T>C (p.Ala70=) | |
| 13 | g.23203850T>G | CA482903216 | SGCG | c.156T>G (p.Ala52=) c.210T>G (p.Ala70=) | |
| 13 | g.23203851C>A | CA387502760 | SGCG | c.157C>A (p.Leu53Ile) c.211C>A (p.Leu71Ile) | |
| 13 | g.23203851C= | CA2078579968 | SGCG | c.157C= (p.Leu53=) c.211C= (p.Leu71=) | |
| 13 | g.23203851C>G | CA387502762 | SGCG | c.157C>G (p.Leu53Val) c.211C>G (p.Leu71Val) | |
| 13 | g.23203851C>T | CA6909584 | SGCG | c.157C>T (p.Leu53Phe) c.211C>T (p.Leu71Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23203852T>A | CA387502764 | SGCG | c.158T>A (p.Leu53His) c.212T>A (p.Leu71His) | |
| 13 | g.23203852T>C | CA10606508 | SGCG | c.158T>C (p.Leu53Pro) c.212T>C (p.Leu71Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.23203852T>G | CA387502765 | SGCG | c.158T>G (p.Leu53Arg) c.212T>G (p.Leu71Arg) | |
| 13 | g.23203852T= | CA2078579969 | SGCG | c.158T= (p.Leu53=) c.212T= (p.Leu71=) | |
| 13 | g.23203853T>A | CA482903220 | SGCG | c.159T>A (p.Leu53=) c.213T>A (p.Leu71=) | |
| 13 | g.23203853T>C | CA482903221 | SGCG | c.159T>C (p.Leu53=) c.213T>C (p.Leu71=) | |
| 13 | g.23203853T>G | CA482903223 | SGCG | c.159T>G (p.Leu53=) c.213T>G (p.Leu71=) | |
| 13 | g.23203854A>C | CA387502767 | SGCG | c.160A>C (p.Thr54Pro) c.214A>C (p.Thr72Pro) | |
| 13 | g.23203854A>G | CA387502768 | SGCG | c.160A>G (p.Thr54Ala) c.214A>G (p.Thr72Ala) | gnomAD v4 |
| 13 | g.23203854A>T | CA387502770 | SGCG | c.160A>T (p.Thr54Ser) c.214A>T (p.Thr72Ser) | |
| 13 | g.23203855C>A | CA10606140 | SGCG | c.161C>A (p.Thr54Lys) c.215C>A (p.Thr72Lys) | ClinVar dbSNP |
| 13 | g.23203855C= | CA2078579970 | SGCG | c.161C= (p.Thr54=) c.215C= (p.Thr72=) | |
| 13 | g.23203855C>G | CA10606648 | SGCG | c.161C>G (p.Thr54Arg) c.215C>G (p.Thr72Arg) | ClinVar dbSNP |
| 13 | g.23203855C>T | CA387502772 | SGCG | c.161C>T (p.Thr54Ile) c.215C>T (p.Thr72Ile) | gnomAD v4 |
| 13 | g.23203856A>C | CA482903224 | SGCG | c.162A>C (p.Thr54=) c.216A>C (p.Thr72=) | |
| 13 | g.23203856A>G | CA482903225 | SGCG | c.162A>G (p.Thr54=) c.216A>G (p.Thr72=) | |
| 13 | g.23203856A>T | CA482903226 | SGCG | c.162A>T (p.Thr54=) c.216A>T (p.Thr72=) | |
| 13 | g.23203857A>C | CA387502774 | SGCG | c.163A>C (p.Ile55Leu) c.217A>C (p.Ile73Leu) | |
| 13 | g.23203857A>G | CA387502775 | SGCG | c.163A>G (p.Ile55Val) c.217A>G (p.Ile73Val) | |
| 13 | g.23203857A>T | CA387502777 | SGCG | c.163A>T (p.Ile55Phe) c.217A>T (p.Ile73Phe) | |
| 13 | g.23203858T>A | CA387502778 | SGCG | c.164T>A (p.Ile55Asn) c.218T>A (p.Ile73Asn) | |
| 13 | g.23203858T>C | CA387502780 | SGCG | c.164T>C (p.Ile55Thr) c.218T>C (p.Ile73Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.23203858T>G | CA387502783 | SGCG | c.164T>G (p.Ile55Ser) c.218T>G (p.Ile73Ser) | ClinVar dbSNP |
| 13 | g.23203858T= | CA2078579971 | SGCG | c.164T= (p.Ile55=) c.218T= (p.Ile73=) | |
| 13 | g.23203859T>A | CA482903227 | SGCG | c.165T>A (p.Ile55=) c.219T>A (p.Ile73=) | |
| 13 | g.23203859T>C | CA482903228 | SGCG | c.165T>C (p.Ile55=) c.219T>C (p.Ile73=) | dbSNP |
| 13 | g.23203859T>G | CA387502784 | SGCG | c.165T>G (p.Ile55Met) c.219T>G (p.Ile73Met) | |
| 13 | g.23203859T= | CA2078579972 | SGCG | c.165T= (p.Ile55=) c.219T= (p.Ile73=) | |
| 13 | g.23203860T>A | CA246629065 | SGCG | c.166T>A (p.Trp56Arg) c.220T>A (p.Trp74Arg) | dbSNP |
| 13 | g.23203860T>C | CA387502785 | SGCG | c.166T>C (p.Trp56Arg) c.220T>C (p.Trp74Arg) | |
| 13 | g.23203860T>G | CA387502787 | SGCG | c.166T>G (p.Trp56Gly) c.220T>G (p.Trp74Gly) | |
| 13 | g.23203860T= | CA2078579973 | SGCG | c.166T= (p.Trp56=) c.220T= (p.Trp74=) | |
| 13 | g.23203861G>A | CA387502790 | SGCG | c.167G>A (p.Trp56Ter) c.221G>A (p.Trp74Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.23203861G>C | CA387502791 | SGCG | c.167G>C (p.Trp56Ser) c.221G>C (p.Trp74Ser) | |
| 13 | g.23203861G= | CA2078579974 | SGCG | c.167G= (p.Trp56=) c.221G= (p.Trp74=) | |
| 13 | g.23203861G>T | CA387502793 | SGCG | c.167G>T (p.Trp56Leu) c.221G>T (p.Trp74Leu) | |
| 13 | g.23203862G>A | CA387502796 | SGCG | c.168G>A (p.Trp56Ter) c.222G>A (p.Trp74Ter) | COSMIC |
| 13 | g.23203862G>C | CA387502798 | SGCG | c.168G>C (p.Trp56Cys) c.222G>C (p.Trp74Cys) | |
| 13 | g.23203862G>T | CA387502800 | SGCG | c.168G>T (p.Trp56Cys) c.222G>T (p.Trp74Cys) | |
| 13 | g.23203863A>C | CA387502802 | SGCG | c.169A>C (p.Ile57Leu) c.223A>C (p.Ile75Leu) | |
| 13 | g.23203863A>G | CA387502804 | SGCG | c.169A>G (p.Ile57Val) c.223A>G (p.Ile75Val) | |
| 13 | g.23203863A>T | CA387502805 | SGCG | c.169A>T (p.Ile57Phe) c.223A>T (p.Ile75Phe) | |
| 13 | g.23203864T>A | CA387502812 | SGCG | c.170T>A (p.Ile57Asn) c.224T>A (p.Ile75Asn) | |
| 13 | g.23203864T>C | CA387502814 | SGCG | c.170T>C (p.Ile57Thr) c.224T>C (p.Ile75Thr) | |
| 13 | g.23203864T>G | CA387502816 | SGCG | c.170T>G (p.Ile57Ser) c.224T>G (p.Ile75Ser) | dbSNP |
| 13 | g.23203864T= | CA2078579975 | SGCG | c.170T= (p.Ile57=) c.224T= (p.Ile75=) | |
| 13 | g.23203865T>A | CA482903229 | SGCG | c.171T>A (p.Ile57=) c.225T>A (p.Ile75=) | dbSNP |
| 13 | g.23203865T>C | CA482903230 | SGCG | c.171T>C (p.Ile57=) c.225T>C (p.Ile75=) | |
| 13 | g.23203865T>G | CA387502818 | SGCG | c.171T>G (p.Ile57Met) c.225T>G (p.Ile75Met) | |
| 13 | g.23203865T= | CA2078579976 | SGCG | c.171T= (p.Ile57=) c.225T= (p.Ile75=) | |
| 13 | g.23203866C>A | CA387502823 | SGCG | c.172C>A (p.Leu58Ile) c.226C>A (p.Leu76Ile) | ClinVar dbSNP |
| 13 | g.23203866C= | CA2078579977 | SGCG | c.172C= (p.Leu58=) c.226C= (p.Leu76=) | |
| 13 | g.23203866C>G | CA387502820 | SGCG | c.172C>G (p.Leu58Val) c.226C>G (p.Leu76Val) | |
| 13 | g.23203866C>T | CA6909585 | SGCG | c.172C>T (p.Leu58Phe) c.226C>T (p.Leu76Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.23203867T>A | CA387502824 | SGCG | c.173T>A (p.Leu58His) c.227T>A (p.Leu76His) | |
| 13 | g.23203867T>C | CA387502826 | SGCG | c.173T>C (p.Leu58Pro) c.227T>C (p.Leu76Pro) | |
| 13 | g.23203867T>G | CA387502827 | SGCG | c.173T>G (p.Leu58Arg) c.227T>G (p.Leu76Arg) | dbSNP gnomAD v4 |
| 13 | g.23203867T= | CA2078579978 | SGCG | c.173T= (p.Leu58=) c.227T= (p.Leu76=) | |
| 13 | g.23203868T>A | CA482903231 | SGCG | c.174T>A (p.Leu58=) c.228T>A (p.Leu76=) | |
| 13 | g.23203868T>C | CA482903232 | SGCG | c.174T>C (p.Leu58=) c.228T>C (p.Leu76=) | |
| 13 | g.23203868T>G | CA482903233 | SGCG | c.174T>G (p.Leu58=) c.228T>G (p.Leu76=) | |
| 13 | g.23203869A= | CA2078579979 | SGCG | c.175A= (p.Lys59=) c.229A= (p.Lys77=) | |
| 13 | g.23203869A>C | CA387502830 | SGCG | c.175A>C (p.Lys59Gln) c.229A>C (p.Lys77Gln) | |
| 13 | g.23203869A>G | CA246629068 | SGCG | c.175A>G (p.Lys59Glu) c.229A>G (p.Lys77Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.23203869A>T | CA387502832 | SGCG | c.175A>T (p.Lys59Ter) c.229A>T (p.Lys77Ter) | |
| 13 | g.23203871dup | CA2573053788 | SGCG | c.177dup (p.Val60SerfsTer?) c.231dup (p.Val78SerfsTer?) | ClinVar dbSNP |
| 13 | g.23203870A>C | CA387502834 | SGCG | c.176A>C (p.Lys59Thr) c.230A>C (p.Lys77Thr) | |
| 13 | g.23203870A>G | CA387502837 | SGCG | c.176A>G (p.Lys59Arg) c.230A>G (p.Lys77Arg) | |
| 13 | g.23203870A>T | CA387502835 | SGCG | c.176A>T (p.Lys59Ile) c.230A>T (p.Lys77Ile) | |
| 13 | g.23203871A>C | CA387502838 | SGCG | c.177A>C (p.Lys59Asn) c.231A>C (p.Lys77Asn) | |
| 13 | g.23203871A>G | CA482903234 | SGCG | c.177A>G (p.Lys59=) c.231A>G (p.Lys77=) | gnomAD v4 |
| 13 | g.23203871A>T | CA387502840 | SGCG | c.177A>T (p.Lys59Asn) c.231A>T (p.Lys77Asn) | |
| 13 | g.23203872G>A | CA387502842 | SGCG | c.178G>A (p.Val60Met) c.232G>A (p.Val78Met) | COSMIC |
| 13 | g.23203872G>C | CA387502844 | SGCG | c.178G>C (p.Val60Leu) c.232G>C (p.Val78Leu) | |
| 13 | g.23203872G>T | CA387502847 | SGCG | c.178G>T (p.Val60Leu) c.232G>T (p.Val78Leu) | |
| 13 | g.23203873T>A | CA387502849 | SGCG | c.179T>A (p.Val60Glu) c.233T>A (p.Val78Glu) | |
| 13 | g.23203873T>C | CA387502853 | SGCG | c.179T>C (p.Val60Ala) c.233T>C (p.Val78Ala) | gnomAD v4 |
| 13 | g.23203873T>G | CA387502851 | SGCG | c.179T>G (p.Val60Gly) c.233T>G (p.Val78Gly) | gnomAD v4 |
| 13 | g.23203874G>A | CA246629069 | SGCG | c.180G>A (p.Val60=) c.234G>A (p.Val78=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.23203874G>C | CA482903236 | SGCG | c.180G>C (p.Val60=) c.234G>C (p.Val78=) | |
| 13 | g.23203874G= | CA2078579980 | SGCG | c.180G= (p.Val60=) c.234G= (p.Val78=) | |
| 13 | g.23203874G>T | CA482903235 | SGCG | c.180G>T (p.Val60=) c.234G>T (p.Val78=) | |
| 13 | g.23203875A= | CA2078579981 | SGCG | c.181A= (p.Met61=) c.235A= (p.Met79=) | |
| 13 | g.23203875A>C | CA387502854 | SGCG | c.181A>C (p.Met61Leu) c.235A>C (p.Met79Leu) | gnomAD v4 |
| 13 | g.23203875A>G | CA387502856 | SGCG | c.181A>G (p.Met61Val) c.235A>G (p.Met79Val) | |
| 13 | g.23203875A>T | CA10606650 | SGCG | c.181A>T (p.Met61Leu) c.235A>T (p.Met79Leu) | ClinVar dbSNP |
| 13 | g.23203876T>A | CA387502859 | SGCG | c.182T>A (p.Met61Lys) c.236T>A (p.Met79Lys) | |
| 13 | g.23203876T>C | CA387502861 | SGCG | c.182T>C (p.Met61Thr) c.236T>C (p.Met79Thr) | |
| 13 | g.23203876T>G | CA387502863 | SGCG | c.182T>G (p.Met61Arg) c.236T>G (p.Met79Arg) | |
| 13 | g.23203877G>A | CA387502865 | SGCG | c.183G>A (p.Met61Ile) c.237G>A (p.Met79Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.23203877G>C | CA387502866 | SGCG | c.183G>C (p.Met61Ile) c.237G>C (p.Met79Ile) | |
| 13 | g.23203877G= | CA2078579982 | SGCG | c.183G= (p.Met61=) c.237G= (p.Met79=) | |
| 13 | g.23203877G>T | CA387502868 | SGCG | c.183G>T (p.Met61Ile) c.237G>T (p.Met79Ile) | |
| 13 | g.23203878T>A | CA387502871 | SGCG | c.184T>A (p.Trp62Arg) c.238T>A (p.Trp80Arg) | |
| 13 | g.23203878T>C | CA387502872 | SGCG | c.184T>C (p.Trp62Arg) c.238T>C (p.Trp80Arg) | |
| 13 | g.23203878T>G | CA387502874 | SGCG | c.184T>G (p.Trp62Gly) c.238T>G (p.Trp80Gly) | dbSNP gnomAD v2 |
| 13 | g.23203878T= | CA2078579983 | SGCG | c.184T= (p.Trp62=) c.238T= (p.Trp80=) | |
| 13 | g.23203879G>A | CA387502877 | SGCG | c.185G>A (p.Trp62Ter) c.239G>A (p.Trp80Ter) | |
| 13 | g.23203879G>C | CA387502880 | SGCG | c.185G>C (p.Trp62Ser) c.239G>C (p.Trp80Ser) | dbSNP gnomAD v4 |
| 13 | g.23203879G= | CA2078579984 | SGCG | c.185G= (p.Trp62=) c.239G= (p.Trp80=) | |
| 13 | g.23203879G>T | CA387502879 | SGCG | c.185G>T (p.Trp62Leu) c.239G>T (p.Trp80Leu) | COSMIC |
| 13 | g.23203880G>A | CA387502883 | SGCG | c.186G>A (p.Trp62Ter) c.240G>A (p.Trp80Ter) | ClinVar dbSNP |
| 13 | g.23203880G>C | CA387502885 | SGCG | c.186G>C (p.Trp62Cys) c.240G>C (p.Trp80Cys) | |
| 13 | g.23203880G= | CA2078579985 | SGCG | c.186G= (p.Trp62=) c.240G= (p.Trp80=) | |
| 13 | g.23203880G>T | CA387502886 | SGCG | c.186G>T (p.Trp62Cys) c.240G>T (p.Trp80Cys) | |
| 13 | g.23203881T>A | CA387502888 | SGCG | c.187T>A (p.Phe63Ile) c.241T>A (p.Phe81Ile) | |
| 13 | g.23203881T>C | CA387502890 | SGCG | c.187T>C (p.Phe63Leu) c.241T>C (p.Phe81Leu) | |
| 13 | g.23203881T>G | CA387502892 | SGCG | c.187T>G (p.Phe63Val) c.241T>G (p.Phe81Val) | |
| 13 | g.23203882T>A | CA387502898 | SGCG | c.188T>A (p.Phe63Tyr) c.242T>A (p.Phe81Tyr) | |
| 13 | g.23203882T>C | CA387502895 | SGCG | c.188T>C (p.Phe63Ser) c.242T>C (p.Phe81Ser) | |
| 13 | g.23203882T>G | CA387502896 | SGCG | c.188T>G (p.Phe63Cys) c.242T>G (p.Phe81Cys) | |
| 13 | g.23203883T>A | CA387502900 | SGCG | c.189T>A (p.Phe63Leu) c.243T>A (p.Phe81Leu) | |
| 13 | g.23203883T>C | CA482903237 | SGCG | c.189T>C (p.Phe63=) c.243T>C (p.Phe81=) | |
| 13 | g.23203883T>G | CA387502902 | SGCG | c.189T>G (p.Phe63Leu) c.243T>G (p.Phe81Leu) | |
| 13 | g.23203884T>A | CA387502903 | SGCG | c.190T>A (p.Ser64Thr) c.244T>A (p.Ser82Thr) | |
| 13 | g.23203884T>C | CA10604440 | SGCG | c.190T>C (p.Ser64Pro) c.244T>C (p.Ser82Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.23203884T>G | CA387502907 | SGCG | c.190T>G (p.Ser64Ala) c.244T>G (p.Ser82Ala) | |
| 13 | g.23203884T= | CA2078579986 | SGCG | c.190T= (p.Ser64=) c.244T= (p.Ser82=) | |
| 13 | g.23203885C>A | CA387502910 | SGCG | c.191C>A (p.Ser64Tyr) c.245C>A (p.Ser82Tyr) | |
| 13 | g.23203885C>G | CA387502912 | SGCG | c.191C>G (p.Ser64Cys) c.245C>G (p.Ser82Cys) | |
| 13 | g.23203885C>T | CA387502911 | SGCG | c.191C>T (p.Ser64Phe) c.245C>T (p.Ser82Phe) | |
| 13 | g.23203886T>A | CA482903238 | SGCG | c.192T>A (p.Ser64=) c.246T>A (p.Ser82=) | |
| 13 | g.23203886T>C | CA482903239 | SGCG | c.192T>C (p.Ser64=) c.246T>C (p.Ser82=) | gnomAD v4 |
| 13 | g.23203886T>G | CA482903240 | SGCG | c.192T>G (p.Ser64=) c.246T>G (p.Ser82=) | |
| 13 | g.23203887C>A | CA387502914 | SGCG | c.193C>A (p.Pro65Thr) c.247C>A (p.Pro83Thr) | COSMIC |
| 13 | g.23203887C>G | CA387502916 | SGCG | c.193C>G (p.Pro65Ala) c.247C>G (p.Pro83Ala) | |
| 13 | g.23203887C>T | CA387502918 | SGCG | c.193C>T (p.Pro65Ser) c.247C>T (p.Pro83Ser) | |
| 13 | g.23203888C>A | CA387502921 | SGCG | c.194C>A (p.Pro65Gln) c.248C>A (p.Pro83Gln) | gnomAD v4 |
| 13 | g.23203888C>G | CA387502922 | SGCG | c.194C>G (p.Pro65Arg) c.248C>G (p.Pro83Arg) | |
| 13 | g.23203888C>T | CA387502924 | SGCG | c.194C>T (p.Pro65Leu) c.248C>T (p.Pro83Leu) | gnomAD v4 |
| 13 | g.23203888_23203892delinsCAGTA | CA2078579987 | SGCG | c.194_195+3delinsCAGTA c.248_249+3delinsCAGTA | |
| 13 | g.23203889A= | CA2078579988 | SGCG | c.195A= (p.Pro65=) c.249A= (p.Pro83=) | |
| 13 | g.23203889A>C | CA482903241 | SGCG | c.195A>C (p.Pro65=) c.249A>C (p.Pro83=) | gnomAD v4 |
| 13 | g.23203889A>G | CA482903242 | SGCG | c.195A>G (p.Pro65=) c.249A>G (p.Pro83=) | gnomAD v4 |
| 13 | g.23203889A>T | CA482903243 | SGCG | c.195A>T (p.Pro65=) c.249A>T (p.Pro83=) | dbSNP |
| 13 | g.23203893_23203896del | CA346919 | SGCG | c.195+4_195+7del c.249+4_249+7del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23203890G>A | CA387502932 | SGCG | c.195+1G>A (n.195+1G>A) c.249+1G>A (n.249+1G>A) | gnomAD v4 |
| 13 | g.23203890G>C | CA6909586 | SGCG | c.195+1G>C (n.195+1G>C) c.249+1G>C (n.249+1G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23203890G= | CA2078579989 | SGCG | c.195+1G= (n.195+1G=) c.249+1G= (n.249+1G=) | |
| 13 | g.23203890G>T | CA387502935 | SGCG | c.195+1G>T (n.195+1G>T) c.249+1G>T (n.249+1G>T) | gnomAD v4 |
| 13 | g.23203891T>A | CA387502937 | SGCG | c.195+2T>A (n.195+2T>A) c.249+2T>A (n.249+2T>A) | |
| 13 | g.23203891T>C | CA387502941 | SGCG | c.195+2T>C (n.195+2T>C) c.249+2T>C (n.249+2T>C) | gnomAD v4 |
| 13 | g.23203891T>G | CA387502939 | SGCG | c.195+2T>G (n.195+2T>G) c.249+2T>G (n.249+2T>G) | |
| 13 | g.23203891dup | CA482903244 | SGCG | c.195+2dup (n.195+2dup) c.249+2dup (n.249+2dup) | |
| 13 | g.23203892A= | CA2078579990 | SGCG | c.195+3A= (n.195+3A=) c.249+3A= (n.249+3A=) | |
| 13 | g.23203892A>G | CA2580086806 | SGCG | c.195+3A>G (n.195+3A>G) c.249+3A>G (n.249+3A>G) | ClinVar gnomAD v4 |
| 13 | g.23203892A>T | CA696646196 | SGCG | c.195+3A>T (n.195+3A>T) c.249+3A>T (n.249+3A>T) | ClinVar dbSNP gnomAD v4 |
| 13 | g.23203893A= | CA2078579991 | SGCG | c.195+4A= (n.195+4A=) c.249+4A= (n.249+4A=) | |
| 13 | g.23203893A>C | CA6909587 | SGCG | c.195+4A>C (n.195+4A>C) c.249+4A>C (n.249+4A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.23203894_23203896del | CA2622326031 | SGCG | c.195+5_195+7del (n.195+5_195+7del) c.249+5_249+7del (n.249+5_249+7del) | gnomAD v4 |
| 13 | g.23203894G>A | CA246629092 | SGCG | c.195+5G>A (n.195+5G>A) c.249+5G>A (n.249+5G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23203894G>C | CA2622326032 | SGCG | c.195+5G>C (n.195+5G>C) c.249+5G>C (n.249+5G>C) | gnomAD v4 |
| 13 | g.23203894G= | CA2078579992 | SGCG | c.195+5G= (n.195+5G=) c.249+5G= (n.249+5G=) | |
| 13 | g.23203894G>T | CA2622326033 | SGCG | c.195+5G>T (n.195+5G>T) c.249+5G>T (n.249+5G>T) | gnomAD v4 |
| 13 | g.23203895T>G | CA2622326034 | SGCG | c.195+6T>G (n.195+6T>G) c.249+6T>G (n.249+6T>G) | gnomAD v4 |
| 13 | g.23203896A= | CA2078579993 | SGCG | c.195+7A= (n.195+7A=) c.249+7A= (n.249+7A=) | |
| 13 | g.23203896A>G | CA6909588 | SGCG | c.195+7A>G (n.195+7A>G) c.249+7A>G (n.249+7A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |