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.154969329_154969448del | CA2695237407 | F8 | c.893_1009+3del c.*769_*885+3del c.788_904+3del | |
| X | g.154969378T>A | CA414917747 | F8 | c.962A>T (p.Asp321Val) c.*838A>T (n.*838A>T) c.857A>T (p.Asp286Val) | |
| X | g.154969378T>C | CA414917749 | F8 | c.962A>G (p.Asp321Gly) c.*838A>G (n.*838A>G) c.857A>G (p.Asp286Gly) | gnomAD v4 |
| X | g.154969378T>G | CA414917750 | F8 | c.962A>C (p.Asp321Ala) c.*838A>C (n.*838A>C) c.857A>C (p.Asp286Ala) | |
| X | g.154969379C>A | CA414917756 | F8 | c.961G>T (p.Asp321Tyr) c.*837G>T (n.*837G>T) c.856G>T (p.Asp286Tyr) | |
| X | g.154969379C>G | CA414917752 | F8 | c.961G>C (p.Asp321His) c.*837G>C (n.*837G>C) c.856G>C (p.Asp286His) | |
| X | g.154969379C>T | CA414917754 | F8 | c.961G>A (p.Asp321Asn) c.*837G>A (n.*837G>A) c.856G>A (p.Asp286Asn) | |
| X | g.154969380C>A | CA414917757 | F8 | c.960G>T (p.Met320Ile) c.*836G>T (n.*836G>T) c.855G>T (p.Met285Ile) | |
| X | g.154969380C>G | CA414917759 | F8 | c.960G>C (p.Met320Ile) c.*836G>C (n.*836G>C) c.855G>C (p.Met285Ile) | |
| X | g.154969380C>T | CA414917760 | F8 | c.960G>A (p.Met320Ile) c.*836G>A (n.*836G>A) c.855G>A (p.Met285Ile) | |
| X | g.154969382_154969384del | CA2695237427 | F8 | c.958_960del (p.Met320del) c.*834_*836del (n.*834_*836del) c.853_855del (p.Met285del) | |
| X | g.154969381A>C | CA414917761 | F8 | c.959T>G (p.Met320Arg) c.*835T>G (n.*835T>G) c.854T>G (p.Met285Arg) | |
| X | g.154969381A>G | CA414917762 | F8 | c.959T>C (p.Met320Thr) c.*835T>C (n.*835T>C) c.854T>C (p.Met285Thr) | |
| X | g.154969381A>T | CA414917764 | F8 | c.959T>A (p.Met320Lys) c.*835T>A (n.*835T>A) c.854T>A (p.Met285Lys) | |
| X | g.154969382T>A | CA414917766 | F8 | c.958A>T (p.Met320Leu) c.*834A>T (n.*834A>T) c.853A>T (p.Met285Leu) | |
| X | g.154969382T>C | CA414917767 | F8 | c.958A>G (p.Met320Val) c.*834A>G (n.*834A>G) c.853A>G (p.Met285Val) | |
| X | g.154969382T>G | CA414917769 | F8 | c.958A>C (p.Met320Leu) c.*834A>C (n.*834A>C) c.853A>C (p.Met285Leu) | |
| X | g.154969383_154969391del | CA2695237430 | F8 | c.950_958del (p.Thr317_Leu319del) c.*826_*834del (n.*826_*834del) c.845_853del (p.Thr282_Leu284del) | |
| X | g.154969383C>A | CA414917771 | F8 | c.957G>T (p.Leu319Phe) c.*833G>T (n.*833G>T) c.852G>T (p.Leu284Phe) | |
| X | g.154969383C>G | CA414917773 | F8 | c.957G>C (p.Leu319Phe) c.*833G>C (n.*833G>C) c.852G>C (p.Leu284Phe) | |
| X | g.154969383C>T | CA519367203 | F8 | c.957G>A (p.Leu319=) c.*833G>A (n.*833G>A) c.852G>A (p.Leu284=) | |
| X | g.154969384A>C | CA414917774 | F8 | c.956T>G (p.Leu319Trp) c.*832T>G (n.*832T>G) c.851T>G (p.Leu284Trp) | |
| X | g.154969384A>G | CA414917778 | F8 | c.956T>C (p.Leu319Ser) c.*832T>C (n.*832T>C) c.851T>C (p.Leu284Ser) | |
| X | g.154969384A>T | CA414917776 | F8 | c.956T>A (p.Leu319Ter) c.*832T>A (n.*832T>A) c.851T>A (p.Leu284Ter) | |
| X | g.154969385del | CA2695237431 | F8 | c.956del (p.Leu319Ter) c.*832del (n.*832del) c.851del (p.Leu284Ter) | |
| X | g.154969385A= | CA2466848983 | F8 | c.955T= (p.Leu319=) c.*831T= (n.*831T=) c.850T= (p.Leu284=) | |
| X | g.154969385A>C | CA414917780 | F8 | c.955T>G (p.Leu319Val) c.*831T>G (n.*831T>G) c.850T>G (p.Leu284Val) | |
| X | g.154969385A>G | CA519367207 | F8 | c.955T>C (p.Leu319=) c.*831T>C (n.*831T>C) c.850T>C (p.Leu284=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154969385A>T | CA414917781 | F8 | c.955T>A (p.Leu319Met) c.*831T>A (n.*831T>A) c.850T>A (p.Leu284Met) | |
| X | g.154969387_154969388del | CA2695237432 | F8 | c.954_955del (p.Leu319AspfsTer18) c.*830_*831del (n.*830_*831del) c.849_850del (p.Leu284AspfsTer18) | |
| X | g.154969386G>A | CA519367209 | F8 | c.954C>T (p.Leu318=) c.*830C>T (n.*830C>T) c.849C>T (p.Leu283=) | |
| X | g.154969386G>C | CA519367210 | F8 | c.954C>G (p.Leu318=) c.*830C>G (n.*830C>G) c.849C>G (p.Leu283=) | |
| X | g.154969386G>T | CA519367211 | F8 | c.954C>A (p.Leu318=) c.*830C>A (n.*830C>A) c.849C>A (p.Leu283=) | |
| X | g.154969387del | CA2695237433 | F8 | c.953del (p.Leu318ProfsTer2) c.*829del (n.*829del) c.848del (p.Leu283ProfsTer2) | |
| X | g.154969387A>C | CA414917783 | F8 | c.953T>G (p.Leu318Arg) c.*829T>G (n.*829T>G) c.848T>G (p.Leu283Arg) | |
| X | g.154969387A>G | CA414917784 | F8 | c.953T>C (p.Leu318Pro) c.*829T>C (n.*829T>C) c.848T>C (p.Leu283Pro) | gnomAD v4 |
| X | g.154969387A>T | CA414917786 | F8 | c.953T>A (p.Leu318His) c.*829T>A (n.*829T>A) c.848T>A (p.Leu283His) | |
| X | g.154969388del | CA2695237435 | F8 | c.952del (p.Leu318SerfsTer2) c.*828del (n.*828del) c.847del (p.Leu283SerfsTer2) | |
| X | g.154969388G>A | CA414917789 | F8 | c.952C>T (p.Leu318Phe) c.*828C>T (n.*828C>T) c.847C>T (p.Leu283Phe) | dbSNP gnomAD v4 |
| X | g.154969388G>C | CA414917790 | F8 | c.952C>G (p.Leu318Val) c.*828C>G (n.*828C>G) c.847C>G (p.Leu283Val) | |
| X | g.154969388G= | CA2466848984 | F8 | c.952C= (p.Leu318=) c.*828C= (n.*828C=) c.847C= (p.Leu283=) | |
| X | g.154969388G>T | CA414917792 | F8 | c.952C>A (p.Leu318Ile) c.*828C>A (n.*828C>A) c.847C>A (p.Leu283Ile) | |
| X | g.154969389T>A | CA519367218 | F8 | c.951A>T (p.Thr317=) c.*827A>T (n.*827A>T) c.846A>T (p.Thr282=) | |
| X | g.154969389T>C | CA519367220 | F8 | c.951A>G (p.Thr317=) c.*827A>G (n.*827A>G) c.846A>G (p.Thr282=) | |
| X | g.154969389T>G | CA519367222 | F8 | c.951A>C (p.Thr317=) c.*827A>C (n.*827A>C) c.846A>C (p.Thr282=) | |
| X | g.154969391_154969394del | CA2695237437 | F8 | c.948_951del (p.Gln316HisfsTer3) c.*824_*827del (n.*824_*827del) c.843_846del (p.Gln281HisfsTer3) | |
| X | g.154969390G>A | CA414917793 | F8 | c.950C>T (p.Thr317Ile) c.*826C>T (n.*826C>T) c.845C>T (p.Thr282Ile) | |
| X | g.154969390G>C | CA414917795 | F8 | c.950C>G (p.Thr317Arg) c.*826C>G (n.*826C>G) c.845C>G (p.Thr282Arg) | |
| X | g.154969390G>T | CA414917797 | F8 | c.950C>A (p.Thr317Lys) c.*826C>A (n.*826C>A) c.845C>A (p.Thr282Lys) | |
| X | g.154969391T>A | CA414917801 | F8 | c.949A>T (p.Thr317Ser) c.*825A>T (n.*825A>T) c.844A>T (p.Thr282Ser) |