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.154899869_154902170dup | CA1139771163 | F8 | c.6001_6273+2dup c.5896_6168+2dup | |
| X | g.154902045_154902057del | CA2695237861 | F8 | c.6115_6115+12del c.6010_6010+12del | |
| X | g.154902044T>A | CA2695152868 | F8 | c.6115+7A>T (n.6115+7A>T) c.6010+7A>T (n.6010+7A>T) | gnomAD v4 |
| X | g.154902044T>C | CA2695237863 | F8 | c.6115+7A>G (n.6115+7A>G) c.6010+7A>G (n.6010+7A>G) | |
| X | g.154902045del | CA2695152869 | F8 | c.6115+6del (n.6115+6del) c.6010+6del (n.6010+6del) | gnomAD v4 |
| X | g.154902045A>G | CA2695237865 | F8 | c.6115+6T>C (n.6115+6T>C) c.6010+6T>C (n.6010+6T>C) | |
| X | g.154902045A>T | CA2579744478 | F8 | c.6115+6T>A (n.6115+6T>A) c.6010+6T>A (n.6010+6T>A) | gnomAD v4 |
| X | g.154902048_154902051del | CA2695237864 | F8 | c.6115+3_6115+6del c.6010+3_6010+6del | |
| X | g.154902046C>A | CA2695237866 | F8 | c.6115+5G>T (n.6115+5G>T) c.6010+5G>T (n.6010+5G>T) | |
| X | g.154902046C= | CA2466827616 | F8 | c.6115+5G= (n.6115+5G=) c.6010+5G= (n.6010+5G=) | |
| X | g.154902046C>G | CA2466827617 | F8 | c.6115+5G>C (n.6115+5G>C) c.6010+5G>C (n.6010+5G>C) | dbSNP |
| X | g.154902046C>T | CA2695152870 | F8 | c.6115+5G>A (n.6115+5G>A) c.6010+5G>A (n.6010+5G>A) | gnomAD v4 |
| X | g.154902047del | CA2695237867 | F8 | c.6115+4del (n.6115+4del) c.6010+4del (n.6010+4del) | |
| X | g.154902047T>C | CA2695152871 | F8 | c.6115+4A>G (n.6115+4A>G) c.6010+4A>G (n.6010+4A>G) | gnomAD v4 |
| X | g.154902047T>G | CA2695237868 | F8 | c.6115+4A>C (n.6115+4A>C) c.6010+4A>C (n.6010+4A>C) | |
| X | g.154902048C>A | CA2695237870 | F8 | c.6115+3G>T (n.6115+3G>T) c.6010+3G>T (n.6010+3G>T) | |
| X | g.154902048C>G | CA2695237871 | F8 | c.6115+3G>C (n.6115+3G>C) c.6010+3G>C (n.6010+3G>C) | |
| X | g.154902048C>T | CA2695152872 | F8 | c.6115+3G>A (n.6115+3G>A) c.6010+3G>A (n.6010+3G>A) | gnomAD v4 |
| X | g.154902048_154902050del | CA2695237869 | F8 | c.6115+1_6115+3del (n.6115+1_6115+3del) c.6010+1_6010+3del (n.6010+1_6010+3del) | |
| X | g.154902049A= | CA2466827618 | F8 | c.6115+2T= (n.6115+2T=) c.6010+2T= (n.6010+2T=) | |
| X | g.154902049A>C | CA414904446 | F8 | c.6115+2T>G (n.6115+2T>G) c.6010+2T>G (n.6010+2T>G) | dbSNP |
| X | g.154902049A>G | CA414904448 | F8 | c.6115+2T>C (n.6115+2T>C) c.6010+2T>C (n.6010+2T>C) | ClinVar dbSNP |
| X | g.154902049A>T | CA414904450 | F8 | c.6115+2T>A (n.6115+2T>A) c.6010+2T>A (n.6010+2T>A) | |
| X | g.154902050C>A | CA414904455 | F8 | c.6115+1G>T (n.6115+1G>T) c.6010+1G>T (n.6010+1G>T) | |
| X | g.154902050C>G | CA414904456 | F8 | c.6115+1G>C (n.6115+1G>C) c.6010+1G>C (n.6010+1G>C) | |
| X | g.154902050C>T | CA414904457 | F8 | c.6115+1G>A (n.6115+1G>A) c.6010+1G>A (n.6010+1G>A) | |
| X | g.154902051T>A | CA414904458 | F8 | c.6115A>T (p.Lys2039Ter) c.6010A>T (p.Lys2004Ter) | dbSNP |
| X | g.154902051T>C | CA414904461 | F8 | c.6115A>G (p.Lys2039Glu) c.6010A>G (p.Lys2004Glu) | |
| X | g.154902051T>G | CA414904460 | F8 | c.6115A>C (p.Lys2039Gln) c.6010A>C (p.Lys2004Gln) | |
| X | g.154902051T= | CA2466827619 | F8 | c.6115A= (p.Lys2039=) c.6010A= (p.Lys2004=) | |
| X | g.154902052A>C | CA414904463 | F8 | c.6114T>G (p.Asn2038Lys) c.6009T>G (p.Asn2003Lys) | |
| X | g.154902052A>G | CA519355713 | F8 | c.6114T>C (p.Asn2038=) c.6009T>C (p.Asn2003=) | gnomAD v4 |
| X | g.154902052A>T | CA414904465 | F8 | c.6114T>A (p.Asn2038Lys) c.6009T>A (p.Asn2003Lys) | |
| X | g.154902053T>A | CA414904476 | F8 | c.6113A>T (p.Asn2038Ile) c.6008A>T (p.Asn2003Ile) | |
| X | g.154902053T>C | CA255198 | F8 | c.6113A>G (p.Asn2038Ser) c.6008A>G (p.Asn2003Ser) | ClinVar dbSNP |
| X | g.154902053T>G | CA414904480 | F8 | c.6113A>C (p.Asn2038Thr) c.6008A>C (p.Asn2003Thr) | gnomAD v4 |
| X | g.154902053T= | CA2466827620 | F8 | c.6113A= (p.Asn2038=) c.6008A= (p.Asn2003=) | |
| X | g.154902054T>A | CA414904483 | F8 | c.6112A>T (p.Asn2038Tyr) c.6007A>T (p.Asn2003Tyr) | |
| X | g.154902054T>C | CA414904497 | F8 | c.6112A>G (p.Asn2038Asp) c.6007A>G (p.Asn2003Asp) | gnomAD v4 |
| X | g.154902054T>G | CA414904501 | F8 | c.6112A>C (p.Asn2038His) c.6007A>C (p.Asn2003His) | |
| X | g.154902055G>A | CA519355724 | F8 | c.6111C>T (p.Ser2037=) c.6006C>T (p.Ser2002=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154902055G>C | CA414904503 | F8 | c.6111C>G (p.Ser2037Arg) c.6006C>G (p.Ser2002Arg) | |
| X | g.154902055G= | CA2466827621 | F8 | c.6111C= (p.Ser2037=) c.6006C= (p.Ser2002=) | |
| X | g.154902055G>T | CA414904504 | F8 | c.6111C>A (p.Ser2037Arg) c.6006C>A (p.Ser2002Arg) | gnomAD v4 |
| X | g.154902056C>A | CA414904511 | F8 | c.6110G>T (p.Ser2037Ile) c.6005G>T (p.Ser2002Ile) | |
| X | g.154902056C>G | CA414904507 | F8 | c.6110G>C (p.Ser2037Thr) c.6005G>C (p.Ser2002Thr) | |
| X | g.154902056C>T | CA414904505 | F8 | c.6110G>A (p.Ser2037Asn) c.6005G>A (p.Ser2002Asn) | gnomAD v4 |
| X | g.154902057T>A | CA414904512 | F8 | c.6109A>T (p.Ser2037Cys) c.6004A>T (p.Ser2002Cys) | |
| X | g.154902057T>C | CA414904513 | F8 | c.6109A>G (p.Ser2037Gly) c.6004A>G (p.Ser2002Gly) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154902057T>G | CA414904514 | F8 | c.6109A>C (p.Ser2037Arg) c.6004A>C (p.Ser2002Arg) |