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 |
|---|---|---|---|---|---|
| X | g.154863112_154863113del | CA2579752263 | F8 | c.6545_6546del (p.Arg2182HisfsTer7) c.278_279del (p.Arg93HisfsTer7) c.140_141del (p.Arg47HisfsTer7) c.6440_6441del (p.Arg2147HisfsTer7) | |
| X | g.154863112C>A | CA414907082 | F8 | c.6545G>T (p.Arg2182Leu) c.278G>T (p.Arg93Leu) c.140G>T (p.Arg47Leu) c.6440G>T (p.Arg2147Leu) | dbSNP |
| X | g.154863112C= | CA2466815599 | F8 | c.6545G= (p.Arg2182=) c.278G= (p.Arg93=) c.140G= (p.Arg47=) c.6440G= (p.Arg2147=) | |
| X | g.154863112C>G | CA414907083 | F8 | c.6545G>C (p.Arg2182Pro) c.278G>C (p.Arg93Pro) c.140G>C (p.Arg47Pro) c.6440G>C (p.Arg2147Pro) | |
| X | g.154863112C>T | CA255213 | F8 | c.6545G>A (p.Arg2182His) c.278G>A (p.Arg93His) c.140G>A (p.Arg47His) c.6440G>A (p.Arg2147His) | ClinVar dbSNP COSMIC COSMIC |
| X | g.154863113G>A | CA255214 | F8 | c.6544C>T (p.Arg2182Cys) c.277C>T (p.Arg93Cys) c.139C>T (p.Arg47Cys) c.6439C>T (p.Arg2147Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.154863113G>C | CA414907093 | F8 | c.6544C>G (p.Arg2182Gly) c.277C>G (p.Arg93Gly) c.139C>G (p.Arg47Gly) c.6439C>G (p.Arg2147Gly) | |
| X | g.154863113G= | CA2466815607 | F8 | c.6544C= (p.Arg2182=) c.277C= (p.Arg93=) c.139C= (p.Arg47=) c.6439C= (p.Arg2147=) | |
| X | g.154863113G>T | CA414907096 | F8 | c.6544C>A (p.Arg2182Ser) c.277C>A (p.Arg93Ser) c.139C>A (p.Arg47Ser) c.6439C>A (p.Arg2147Ser) | |
| X | g.154863114A>C | CA519357836 | F8 | c.6543T>G (p.Leu2181=) c.276T>G (p.Leu92=) c.138T>G (p.Leu46=) c.6438T>G (p.Leu2146=) | |
| X | g.154863114A>G | CA519357834 | F8 | c.6543T>C (p.Leu2181=) c.276T>C (p.Leu92=) c.138T>C (p.Leu46=) c.6438T>C (p.Leu2146=) | |
| X | g.154863114A>T | CA519357835 | F8 | c.6543T>A (p.Leu2181=) c.276T>A (p.Leu92=) c.138T>A (p.Leu46=) c.6438T>A (p.Leu2146=) | |
| X | g.154863115A= | CA2466815612 | F8 | c.6542T= (p.Leu2181=) c.275T= (p.Leu92=) c.137T= (p.Leu46=) c.6437T= (p.Leu2146=) | |
| X | g.154863115A>C | CA414907097 | F8 | c.6542T>G (p.Leu2181Arg) c.275T>G (p.Leu92Arg) c.137T>G (p.Leu46Arg) c.6437T>G (p.Leu2146Arg) | |
| X | g.154863115A>G | CA414907098 | F8 | c.6542T>C (p.Leu2181Pro) c.275T>C (p.Leu92Pro) c.137T>C (p.Leu46Pro) c.6437T>C (p.Leu2146Pro) | dbSNP |
| X | g.154863115A>T | CA414907101 | F8 | c.6542T>A (p.Leu2181His) c.275T>A (p.Leu92His) c.137T>A (p.Leu46His) c.6437T>A (p.Leu2146His) | |
| X | g.154863116G>A | CA414907104 | F8 | c.6541C>T (p.Leu2181Phe) c.274C>T (p.Leu92Phe) c.136C>T (p.Leu46Phe) c.6436C>T (p.Leu2146Phe) | dbSNP |
| X | g.154863116G>C | CA414907105 | F8 | c.6541C>G (p.Leu2181Val) c.274C>G (p.Leu92Val) c.136C>G (p.Leu46Val) c.6436C>G (p.Leu2146Val) | |
| X | g.154863116G= | CA2466815615 | F8 | c.6541C= (p.Leu2181=) c.274C= (p.Leu92=) c.136C= (p.Leu46=) c.6436C= (p.Leu2146=) | |
| X | g.154863116G>T | CA414907106 | F8 | c.6541C>A (p.Leu2181Ile) c.274C>A (p.Leu92Ile) c.136C>A (p.Leu46Ile) c.6436C>A (p.Leu2146Ile) | |
| X | g.154863117A>C | CA519357840 | F8 | c.6540T>G (p.Thr2180=) c.273T>G (p.Thr91=) c.135T>G (p.Thr45=) c.6435T>G (p.Thr2145=) | |
| X | g.154863117A>G | CA519357841 | F8 | c.6540T>C (p.Thr2180=) c.273T>C (p.Thr91=) c.135T>C (p.Thr45=) c.6435T>C (p.Thr2145=) | |
| X | g.154863117A>T | CA519357843 | F8 | c.6540T>A (p.Thr2180=) c.273T>A (p.Thr91=) c.135T>A (p.Thr45=) c.6435T>A (p.Thr2145=) | |
| X | g.154863118G>A | CA414907109 | F8 | c.6539C>T (p.Thr2180Ile) c.272C>T (p.Thr91Ile) c.134C>T (p.Thr45Ile) c.6434C>T (p.Thr2145Ile) | dbSNP |
| X | g.154863118G>C | CA414907122 | F8 | c.6539C>G (p.Thr2180Ser) c.272C>G (p.Thr91Ser) c.134C>G (p.Thr45Ser) c.6434C>G (p.Thr2145Ser) | |
| X | g.154863118G= | CA2466815617 | F8 | c.6539C= (p.Thr2180=) c.272C= (p.Thr91=) c.134C= (p.Thr45=) c.6434C= (p.Thr2145=) | |
| X | g.154863118G>T | CA414907111 | F8 | c.6539C>A (p.Thr2180Asn) c.272C>A (p.Thr91Asn) c.134C>A (p.Thr45Asn) c.6434C>A (p.Thr2145Asn) | |
| X | g.154863119T>A | CA414907126 | F8 | c.6538A>T (p.Thr2180Ser) c.271A>T (p.Thr91Ser) c.133A>T (p.Thr45Ser) c.6433A>T (p.Thr2145Ser) | |
| X | g.154863119T>C | CA414907146 | F8 | c.6538A>G (p.Thr2180Ala) c.271A>G (p.Thr91Ala) c.133A>G (p.Thr45Ala) c.6433A>G (p.Thr2145Ala) | |
| X | g.154863119T>G | CA414907147 | F8 | c.6538A>C (p.Thr2180Pro) c.271A>C (p.Thr91Pro) c.133A>C (p.Thr45Pro) c.6433A>C (p.Thr2145Pro) | |
| X | g.154863120G>A | CA519357848 | F8 | c.6537C>T (p.Ser2179=) c.270C>T (p.Ser90=) c.132C>T (p.Ser44=) c.6432C>T (p.Ser2144=) | |
| X | g.154863120G>C | CA414907148 | F8 | c.6537C>G (p.Ser2179Arg) c.270C>G (p.Ser90Arg) c.132C>G (p.Ser44Arg) c.6432C>G (p.Ser2144Arg) | |
| X | g.154863120G>T | CA414907150 | F8 | c.6537C>A (p.Ser2179Arg) c.270C>A (p.Ser90Arg) c.132C>A (p.Ser44Arg) c.6432C>A (p.Ser2144Arg) | |
| X | g.154863121del | CA2695237166 | F8 | c.6536del (p.Ser2179ThrfsTer7) c.269del (p.Ser90ThrfsTer7) c.131del (p.Ser44ThrfsTer7) c.6431del (p.Ser2144ThrfsTer7) | |
| X | g.154863121C>A | CA414907163 | F8 | c.6536G>T (p.Ser2179Ile) c.269G>T (p.Ser90Ile) c.131G>T (p.Ser44Ile) c.6431G>T (p.Ser2144Ile) | |
| X | g.154863121C= | CA2466815620 | F8 | c.6536G= (p.Ser2179=) c.269G= (p.Ser90=) c.131G= (p.Ser44=) c.6431G= (p.Ser2144=) | |
| X | g.154863121C>G | CA414907166 | F8 | c.6536G>C (p.Ser2179Thr) c.269G>C (p.Ser90Thr) c.131G>C (p.Ser44Thr) c.6431G>C (p.Ser2144Thr) | |
| X | g.154863121C>T | CA414907171 | F8 | c.6536G>A (p.Ser2179Asn) c.269G>A (p.Ser90Asn) c.131G>A (p.Ser44Asn) c.6431G>A (p.Ser2144Asn) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154863122T>A | CA414907175 | F8 | c.6535A>T (p.Ser2179Cys) c.268A>T (p.Ser90Cys) c.130A>T (p.Ser44Cys) c.6430A>T (p.Ser2144Cys) | |
| X | g.154863122T>C | CA414907176 | F8 | c.6535A>G (p.Ser2179Gly) c.268A>G (p.Ser90Gly) c.130A>G (p.Ser44Gly) c.6430A>G (p.Ser2144Gly) | |
| X | g.154863122T>G | CA414907178 | F8 | c.6535A>C (p.Ser2179Arg) c.268A>C (p.Ser90Arg) c.130A>C (p.Ser44Arg) c.6430A>C (p.Ser2144Arg) | |
| X | g.154863123G>A | CA519357854 | F8 | c.6534C>T (p.Arg2178=) c.267C>T (p.Arg89=) c.129C>T (p.Arg43=) c.6429C>T (p.Arg2143=) | |
| X | g.154863123G>C | CA519357856 | F8 | c.6534C>G (p.Arg2178=) c.267C>G (p.Arg89=) c.129C>G (p.Arg43=) c.6429C>G (p.Arg2143=) | |
| X | g.154863123G>T | CA519357858 | F8 | c.6534C>A (p.Arg2178=) c.267C>A (p.Arg89=) c.129C>A (p.Arg43=) c.6429C>A (p.Arg2143=) | |
| X | g.154863124C>A | CA255207 | F8 | c.6533G>T (p.Arg2178Leu) c.266G>T (p.Arg89Leu) c.128G>T (p.Arg43Leu) c.6428G>T (p.Arg2143Leu) | ClinVar dbSNP |
| X | g.154863124C= | CA2466815624 | F8 | c.6533G= (p.Arg2178=) c.266G= (p.Arg89=) c.128G= (p.Arg43=) c.6428G= (p.Arg2143=) | |
| X | g.154863124C>G | CA414907187 | F8 | c.6533G>C (p.Arg2178Pro) c.266G>C (p.Arg89Pro) c.128G>C (p.Arg43Pro) c.6428G>C (p.Arg2143Pro) | |
| X | g.154863124C>T | CA255212 | F8 | c.6533G>A (p.Arg2178His) c.266G>A (p.Arg89His) c.128G>A (p.Arg43His) c.6428G>A (p.Arg2143His) | ClinVar dbSNP ExAC gnomAD v4 COSMIC COSMIC |
| X | g.154863125G>A | CA255211 | F8 | c.6532C>T (p.Arg2178Cys) c.265C>T (p.Arg89Cys) c.127C>T (p.Arg43Cys) c.6427C>T (p.Arg2143Cys) | ClinVar dbSNP ExAC gnomAD v4 COSMIC COSMIC |
| X | g.154863125G>C | CA414907205 | F8 | c.6532C>G (p.Arg2178Gly) c.265C>G (p.Arg89Gly) c.127C>G (p.Arg43Gly) c.6427C>G (p.Arg2143Gly) |