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.154903885A= | CA2466828121 | F8 | c.5998+21T= (n.5998+21T=) c.5893+21T= (n.5893+21T=) | |
| X | g.154903885A>C | CA2466828122 | F8 | c.5998+21T>G (n.5998+21T>G) c.5893+21T>G (n.5893+21T>G) | dbSNP gnomAD v4 |
| X | g.154903887_154903888del | CA2695153022 | F8 | c.5998+20_5998+21del (n.5998+20_5998+21del) c.5893+20_5893+21del (n.5893+20_5893+21del) | gnomAD v4 |
| X | g.154903886G>T | CA2695153023 | F8 | c.5998+20C>A (n.5998+20C>A) c.5893+20C>A (n.5893+20C>A) | gnomAD v4 |
| X | g.154903887A>G | CA2695153024 | F8 | c.5998+19T>C (n.5998+19T>C) c.5893+19T>C (n.5893+19T>C) | gnomAD v4 |
| X | g.154903888G>A | CA2695153025 | F8 | c.5998+18C>T (n.5998+18C>T) c.5893+18C>T (n.5893+18C>T) | gnomAD v4 |
| X | g.154903888G>T | CA2695153026 | F8 | c.5998+18C>A (n.5998+18C>A) c.5893+18C>A (n.5893+18C>A) | gnomAD v4 |
| X | g.154903889C>T | CA2695153027 | F8 | c.5998+17G>A (n.5998+17G>A) c.5893+17G>A (n.5893+17G>A) | gnomAD v4 |
| X | g.154903893A>G | CA2579744512 | F8 | c.5998+13T>C (n.5998+13T>C) c.5893+13T>C (n.5893+13T>C) | gnomAD v4 |
| X | g.154903895C>A | CA2466828124 | F8 | c.5998+11G>T (n.5998+11G>T) c.5893+11G>T (n.5893+11G>T) | dbSNP |
| X | g.154903895C= | CA2466828123 | F8 | c.5998+11G= (n.5998+11G=) c.5893+11G= (n.5893+11G=) | |
| X | g.154903895C>T | CA337318236 | F8 | c.5998+11G>A (n.5998+11G>A) c.5893+11G>A (n.5893+11G>A) | dbSNP gnomAD v4 |
| X | g.154903899C= | CA2466828125 | F8 | c.5998+7G= (n.5998+7G=) c.5893+7G= (n.5893+7G=) | |
| X | g.154903899C>G | CA645251968 | F8 | c.5998+7G>C (n.5998+7G>C) c.5893+7G>C (n.5893+7G>C) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154903899C>T | CA2695153028 | F8 | c.5998+7G>A (n.5998+7G>A) c.5893+7G>A (n.5893+7G>A) | gnomAD v4 |
| X | g.154903901C>T | CA645614542 | F8 | c.5998+5G>A (n.5998+5G>A) c.5893+5G>A (n.5893+5G>A) | COSMIC COSMIC |
| X | g.154903902A>C | CA2579744513 | F8 | c.5998+4T>G (n.5998+4T>G) c.5893+4T>G (n.5893+4T>G) | |
| X | g.154903903T>A | CA2695237916 | F8 | c.5998+3A>T (n.5998+3A>T) c.5893+3A>T (n.5893+3A>T) | |
| X | g.154903903T>G | CA2695237915 | F8 | c.5998+3A>C (n.5998+3A>C) c.5893+3A>C (n.5893+3A>C) | |
| X | g.154903904A= | CA2466828126 | F8 | c.5998+2T= (n.5998+2T=) c.5893+2T= (n.5893+2T=) | |
| X | g.154903904A>C | CA414905388 | F8 | c.5998+2T>G (n.5998+2T>G) c.5893+2T>G (n.5893+2T>G) | |
| X | g.154903904A>G | CA414905382 | F8 | c.5998+2T>C (n.5998+2T>C) c.5893+2T>C (n.5893+2T>C) | dbSNP |
| X | g.154903904A>T | CA414905379 | F8 | c.5998+2T>A (n.5998+2T>A) c.5893+2T>A (n.5893+2T>A) | |
| X | g.154903905C>A | CA414905391 | F8 | c.5998+1G>T (n.5998+1G>T) c.5893+1G>T (n.5893+1G>T) | |
| X | g.154903905C= | CA2466828127 | F8 | c.5998+1G= (n.5998+1G=) c.5893+1G= (n.5893+1G=) | |
| X | g.154903905C>G | CA414905392 | F8 | c.5998+1G>C (n.5998+1G>C) c.5893+1G>C (n.5893+1G>C) | dbSNP |
| X | g.154903905C>T | CA414905395 | F8 | c.5998+1G>A (n.5998+1G>A) c.5893+1G>A (n.5893+1G>A) | |
| X | g.154903906C>A | CA414905399 | F8 | c.5998G>T (p.Gly2000Cys) c.5893G>T (p.Gly1965Cys) | |
| X | g.154903906C= | CA2466828128 | F8 | c.5998G= (p.Gly2000=) c.5893G= (p.Gly1965=) | |
| X | g.154903906C>G | CA414905403 | F8 | c.5998G>C (p.Gly2000Arg) c.5893G>C (p.Gly1965Arg) | dbSNP |
| X | g.154903906C>T | CA414905404 | F8 | c.5998G>A (p.Gly2000Ser) c.5893G>A (p.Gly1965Ser) | |
| X | g.154903907T>A | CA519356062 | F8 | c.5997A>T (p.Pro1999=) c.5892A>T (p.Pro1964=) | |
| X | g.154903907T>C | CA519356065 | F8 | c.5997A>G (p.Pro1999=) c.5892A>G (p.Pro1964=) | |
| X | g.154903907T>G | CA519356063 | F8 | c.5997A>C (p.Pro1999=) c.5892A>C (p.Pro1964=) | |
| X | g.154903908G>A | CA414905407 | F8 | c.5996C>T (p.Pro1999Leu) c.5891C>T (p.Pro1964Leu) | |
| X | g.154903908G>C | CA414905412 | F8 | c.5996C>G (p.Pro1999Arg) c.5891C>G (p.Pro1964Arg) | |
| X | g.154903908G>T | CA414905409 | F8 | c.5996C>A (p.Pro1999Gln) c.5891C>A (p.Pro1964Gln) | |
| X | g.154903909G>A | CA414905415 | F8 | c.5995C>T (p.Pro1999Ser) c.5890C>T (p.Pro1964Ser) | |
| X | g.154903909G>C | CA414905420 | F8 | c.5995C>G (p.Pro1999Ala) c.5890C>G (p.Pro1964Ala) | |
| X | g.154903909G>T | CA414905423 | F8 | c.5995C>A (p.Pro1999Thr) c.5890C>A (p.Pro1964Thr) | |
| X | g.154903910del | CA2580101787 | F8 | c.5994del (p.Pro1999GlnfsTer?) c.5889del (p.Pro1964GlnfsTer?) | ClinVar |
| X | g.154903910A= | CA2466828129 | F8 | c.5994T= (p.Tyr1998=) c.5889T= (p.Tyr1963=) | |
| X | g.154903910A>C | CA414905425 | F8 | c.5994T>G (p.Tyr1998Ter) c.5889T>G (p.Tyr1963Ter) | |
| X | g.154903910A>G | CA519356068 | F8 | c.5994T>C (p.Tyr1998=) c.5889T>C (p.Tyr1963=) | |
| X | g.154903910A>T | CA414905426 | F8 | c.5994T>A (p.Tyr1998Ter) c.5889T>A (p.Tyr1963Ter) | dbSNP |
| X | g.154903911T>A | CA414905427 | F8 | c.5993A>T (p.Tyr1998Phe) c.5888A>T (p.Tyr1963Phe) | ClinVar dbSNP gnomAD v4 |
| X | g.154903911T>C | CA414905428 | F8 | c.5993A>G (p.Tyr1998Cys) c.5888A>G (p.Tyr1963Cys) | dbSNP |
| X | g.154903911T>G | CA414905429 | F8 | c.5993A>C (p.Tyr1998Ser) c.5888A>C (p.Tyr1963Ser) | |
| X | g.154903911T= | CA2466828130 | F8 | c.5993A= (p.Tyr1998=) c.5888A= (p.Tyr1963=) | |
| X | g.154903912A>C | CA414905430 | F8 | c.5992T>G (p.Tyr1998Asp) c.5887T>G (p.Tyr1963Asp) | gnomAD v4 |