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.154993050del | CA873356039 | F8 | c.488del (p.Asn163MetfsTer22) c.*274del (n.*274del) c.383del (p.Asn128MetfsTer22) c.470del (p.Asn157MetfsTer?) | dbSNP |
| X | g.154993050T>A | CA414919607 | F8 | c.487A>T (p.Asn163Tyr) c.*273A>T (n.*273A>T) c.382A>T (p.Asn128Tyr) c.469A>T (p.Asn157Tyr) | |
| X | g.154993050T>C | CA414919608 | F8 | c.487A>G (p.Asn163Asp) c.*273A>G (n.*273A>G) c.382A>G (p.Asn128Asp) c.469A>G (p.Asn157Asp) | |
| X | g.154993050T>G | CA414919609 | F8 | c.487A>C (p.Asn163His) c.*273A>C (n.*273A>C) c.382A>C (p.Asn128His) c.469A>C (p.Asn157His) | |
| X | g.154993053_154993054del | CA2695238456 | F8 | c.486_487del (p.Asn163TrpfsTer6) c.*272_*273del (n.*272_*273del) c.381_382del (p.Asn128TrpfsTer6) c.468_469del (p.Asn157TrpfsTer6) | |
| X | g.154993051C>A | CA414919610 | F8 | c.486G>T (p.Glu162Asp) c.*272G>T (n.*272G>T) c.381G>T (p.Glu127Asp) c.468G>T (p.Glu156Asp) | |
| X | g.154993051C= | CA2466856538 | F8 | c.486G= (p.Glu162=) c.*272G= (n.*272G=) c.381G= (p.Glu127=) c.468G= (p.Glu156=) | |
| X | g.154993051C>G | CA414919611 | F8 | c.486G>C (p.Glu162Asp) c.*272G>C (n.*272G>C) c.381G>C (p.Glu127Asp) c.468G>C (p.Glu156Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154993051C>T | CA519372694 | F8 | c.486G>A (p.Glu162=) c.*272G>A (n.*272G>A) c.381G>A (p.Glu127=) c.468G>A (p.Glu156=) | |
| X | g.154993052T>A | CA414919612 | F8 | c.485A>T (p.Glu162Val) c.*271A>T (n.*271A>T) c.380A>T (p.Glu127Val) c.467A>T (p.Glu156Val) | |
| X | g.154993052T>C | CA414919613 | F8 | c.485A>G (p.Glu162Gly) c.*271A>G (n.*271A>G) c.380A>G (p.Glu127Gly) c.467A>G (p.Glu156Gly) | |
| X | g.154993052T>G | CA414919614 | F8 | c.485A>C (p.Glu162Ala) c.*271A>C (n.*271A>C) c.380A>C (p.Glu127Ala) c.467A>C (p.Glu156Ala) | |
| X | g.154993053C>A | CA414919617 | F8 | c.484G>T (p.Glu162Ter) c.*270G>T (n.*270G>T) c.379G>T (p.Glu127Ter) c.466G>T (p.Glu156Ter) | |
| X | g.154993053C>G | CA414919615 | F8 | c.484G>C (p.Glu162Gln) c.*270G>C (n.*270G>C) c.379G>C (p.Glu127Gln) c.466G>C (p.Glu156Gln) | |
| X | g.154993053C>T | CA414919616 | F8 | c.484G>A (p.Glu162Lys) c.*270G>A (n.*270G>A) c.379G>A (p.Glu127Lys) c.466G>A (p.Glu156Lys) | |
| X | g.154993054T>A | CA414919618 | F8 | c.483A>T (p.Lys161Asn) c.*269A>T (n.*269A>T) c.378A>T (p.Lys126Asn) c.465A>T (p.Lys155Asn) | |
| X | g.154993054T>C | CA10568582 | F8 | c.483A>G (p.Lys161=) c.*269A>G (n.*269A>G) c.378A>G (p.Lys126=) c.465A>G (p.Lys155=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154993054T>G | CA414919619 | F8 | c.483A>C (p.Lys161Asn) c.*269A>C (n.*269A>C) c.378A>C (p.Lys126Asn) c.465A>C (p.Lys155Asn) | |
| X | g.154993054T= | CA2466856539 | F8 | c.483A= (p.Lys161=) c.*269A= (n.*269A=) c.378A= (p.Lys126=) c.465A= (p.Lys155=) | |
| X | g.154993055T>A | CA414919620 | F8 | c.482A>T (p.Lys161Ile) c.*268A>T (n.*268A>T) c.377A>T (p.Lys126Ile) c.464A>T (p.Lys155Ile) | |
| X | g.154993055T>C | CA414919621 | F8 | c.482A>G (p.Lys161Arg) c.*268A>G (n.*268A>G) c.377A>G (p.Lys126Arg) c.464A>G (p.Lys155Arg) | |
| X | g.154993055T>G | CA414919622 | F8 | c.482A>C (p.Lys161Thr) c.*268A>C (n.*268A>C) c.377A>C (p.Lys126Thr) c.464A>C (p.Lys155Thr) | |
| X | g.154993056T>A | CA414919623 | F8 | c.481A>T (p.Lys161Ter) c.*267A>T (n.*267A>T) c.376A>T (p.Lys126Ter) c.463A>T (p.Lys155Ter) | |
| X | g.154993056T>C | CA414919624 | F8 | c.481A>G (p.Lys161Glu) c.*267A>G (n.*267A>G) c.376A>G (p.Lys126Glu) c.463A>G (p.Lys155Glu) | |
| X | g.154993056T>G | CA414919625 | F8 | c.481A>C (p.Lys161Gln) c.*267A>C (n.*267A>C) c.376A>C (p.Lys126Gln) c.463A>C (p.Lys155Gln) | |
| X | g.154993057C>A | CA519372727 | F8 | c.480G>T (p.Leu160=) c.*266G>T (n.*266G>T) c.375G>T (p.Leu125=) c.462G>T (p.Leu154=) | |
| X | g.154993057C>G | CA519372730 | F8 | c.480G>C (p.Leu160=) c.*266G>C (n.*266G>C) c.375G>C (p.Leu125=) c.462G>C (p.Leu154=) | |
| X | g.154993057C>T | CA519372733 | F8 | c.480G>A (p.Leu160=) c.*266G>A (n.*266G>A) c.375G>A (p.Leu125=) c.462G>A (p.Leu154=) | |
| X | g.154993058A>C | CA414919626 | F8 | c.479T>G (p.Leu160Arg) c.*265T>G (n.*265T>G) c.374T>G (p.Leu125Arg) c.461T>G (p.Leu154Arg) | |
| X | g.154993058A>G | CA414919627 | F8 | c.479T>C (p.Leu160Pro) c.*265T>C (n.*265T>C) c.374T>C (p.Leu125Pro) c.461T>C (p.Leu154Pro) | |
| X | g.154993058A>T | CA414919628 | F8 | c.479T>A (p.Leu160Gln) c.*265T>A (n.*265T>A) c.374T>A (p.Leu125Gln) c.461T>A (p.Leu154Gln) | |
| X | g.154993059G>A | CA519372734 | F8 | c.478C>T (p.Leu160=) c.*264C>T (n.*264C>T) c.373C>T (p.Leu125=) c.460C>T (p.Leu154=) | gnomAD v4 |
| X | g.154993059G>C | CA414919629 | F8 | c.478C>G (p.Leu160Val) c.*264C>G (n.*264C>G) c.373C>G (p.Leu125Val) c.460C>G (p.Leu154Val) | |
| X | g.154993059G>T | CA414919630 | F8 | c.478C>A (p.Leu160Met) c.*264C>A (n.*264C>A) c.373C>A (p.Leu125Met) c.460C>A (p.Leu154Met) | |
| X | g.154993060G>A | CA519372738 | F8 | c.477C>T (p.Val159=) c.*263C>T (n.*263C>T) c.372C>T (p.Val124=) c.459C>T (p.Val153=) | |
| X | g.154993060G>C | CA519372739 | F8 | c.477C>G (p.Val159=) c.*263C>G (n.*263C>G) c.372C>G (p.Val124=) c.459C>G (p.Val153=) | |
| X | g.154993060G>T | CA519372743 | F8 | c.477C>A (p.Val159=) c.*263C>A (n.*263C>A) c.372C>A (p.Val124=) c.459C>A (p.Val153=) | |
| X | g.154993061A>C | CA414919631 | F8 | c.476T>G (p.Val159Gly) c.*262T>G (n.*262T>G) c.371T>G (p.Val124Gly) c.458T>G (p.Val153Gly) | |
| X | g.154993061A>G | CA414919632 | F8 | c.476T>C (p.Val159Ala) c.*262T>C (n.*262T>C) c.371T>C (p.Val124Ala) c.458T>C (p.Val153Ala) | ClinVar dbSNP |
| X | g.154993061A>T | CA414919633 | F8 | c.476T>A (p.Val159Asp) c.*262T>A (n.*262T>A) c.371T>A (p.Val124Asp) c.458T>A (p.Val153Asp) | ClinVar |
| X | g.154993062C>A | CA414919634 | F8 | c.475G>T (p.Val159Phe) c.*261G>T (n.*261G>T) c.370G>T (p.Val124Phe) c.457G>T (p.Val153Phe) | |
| X | g.154993062C>G | CA414919635 | F8 | c.475G>C (p.Val159Leu) c.*261G>C (n.*261G>C) c.370G>C (p.Val124Leu) c.457G>C (p.Val153Leu) | |
| X | g.154993062C>T | CA414919636 | F8 | c.475G>A (p.Val159Ile) c.*261G>A (n.*261G>A) c.370G>A (p.Val124Ile) c.457G>A (p.Val153Ile) | |
| X | g.154993063C>A | CA414919637 | F8 | c.474G>T (p.Gln158His) c.*260G>T (n.*260G>T) c.369G>T (p.Gln123His) c.456G>T (p.Gln152His) | |
| X | g.154993063C>G | CA414919638 | F8 | c.474G>C (p.Gln158His) c.*260G>C (n.*260G>C) c.369G>C (p.Gln123His) c.456G>C (p.Gln152His) | |
| X | g.154993063C>T | CA519372752 | F8 | c.474G>A (p.Gln158=) c.*260G>A (n.*260G>A) c.369G>A (p.Gln123=) c.456G>A (p.Gln152=) | |
| X | g.154993063_154993074delinsCTGCCAGACATA | CA2466856540 | F8 | c.463_474delinsTATGTCTGGCAG (p.Tyr155=) c.*249_*260delinsTATGTCTGGCAG (n.*249_*260delinsTATGTCTGGCAG) c.358_369delinsTATGTCTGGCAG (p.Tyr120=) c.445_456delinsTATGTCTGGCAG (p.Tyr149=) | |
| X | g.154993064T>A | CA414919639 | F8 | c.473A>T (p.Gln158Leu) c.*259A>T (n.*259A>T) c.368A>T (p.Gln123Leu) c.455A>T (p.Gln152Leu) | |
| X | g.154993064T>C | CA414919640 | F8 | c.473A>G (p.Gln158Arg) c.*259A>G (n.*259A>G) c.368A>G (p.Gln123Arg) c.455A>G (p.Gln152Arg) | |
| X | g.154993064T>G | CA414919641 | F8 | c.473A>C (p.Gln158Pro) c.*259A>C (n.*259A>C) c.368A>C (p.Gln123Pro) c.455A>C (p.Gln152Pro) |