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.154930894_154933976del | CA2018007668 | F8 | c.2114-2298_2898del c.*1780-2298_*2564del c.2009-2298_2793del | |
| X | g.154931343_154931353del | CA2695238365 | F8 | c.2438_2448del (p.Leu813SerfsTer10) c.*2104_*2114del (n.*2104_*2114del) c.2333_2343del (p.Leu778SerfsTer10) | |
| X | g.154931350G>A | CA337325695 | F8 | c.2440C>T (p.Arg814Ter) c.*2106C>T (n.*2106C>T) c.2335C>T (p.Arg779Ter) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| X | g.154931350G>C | CA414901692 | F8 | c.2440C>G (p.Arg814Gly) c.*2106C>G (n.*2106C>G) c.2335C>G (p.Arg779Gly) | gnomAD v4 |
| X | g.154931350G= | CA2466836660 | F8 | c.2440C= (p.Arg814=) c.*2106C= (n.*2106C=) c.2335C= (p.Arg779=) | |
| X | g.154931350G>T | CA519719966 | F8 | c.2440C>A (p.Arg814=) c.*2106C>A (n.*2106C>A) c.2335C>A (p.Arg779=) | |
| X | g.154931351C>A | CA414901693 | F8 | c.2439G>T (p.Leu813Phe) c.*2105G>T (n.*2105G>T) c.2334G>T (p.Leu778Phe) | |
| X | g.154931351C= | CA2466836661 | F8 | c.2439G= (p.Leu813=) c.*2105G= (n.*2105G=) c.2334G= (p.Leu778=) | |
| X | g.154931351C>G | CA414901694 | F8 | c.2439G>C (p.Leu813Phe) c.*2105G>C (n.*2105G>C) c.2334G>C (p.Leu778Phe) | |
| X | g.154931351C>T | CA10568327 | F8 | c.2439G>A (p.Leu813=) c.*2105G>A (n.*2105G>A) c.2334G>A (p.Leu778=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154931352A>C | CA414901695 | F8 | c.2438T>G (p.Leu813Trp) c.*2104T>G (n.*2104T>G) c.2333T>G (p.Leu778Trp) | |
| X | g.154931352A>G | CA414901696 | F8 | c.2438T>C (p.Leu813Ser) c.*2104T>C (n.*2104T>C) c.2333T>C (p.Leu778Ser) | |
| X | g.154931352A>T | CA414901697 | F8 | c.2438T>A (p.Leu813Ter) c.*2104T>A (n.*2104T>A) c.2333T>A (p.Leu778Ter) | |
| X | g.154931353A= | CA2466836662 | F8 | c.2437T= (p.Leu813=) c.*2103T= (n.*2103T=) c.2332T= (p.Leu778=) | |
| X | g.154931353A>C | CA414901698 | F8 | c.2437T>G (p.Leu813Val) c.*2103T>G (n.*2103T>G) c.2332T>G (p.Leu778Val) | |
| X | g.154931353A>G | CA10568328 | F8 | c.2437T>C (p.Leu813=) c.*2103T>C (n.*2103T>C) c.2332T>C (p.Leu778=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154931353A>T | CA414901699 | F8 | c.2437T>A (p.Leu813Met) c.*2103T>A (n.*2103T>A) c.2332T>A (p.Leu778Met) | |
| X | g.154931354G>A | CA519719972 | F8 | c.2436C>T (p.Leu812=) c.*2102C>T (n.*2102C>T) c.2331C>T (p.Leu777=) | gnomAD v4 |
| X | g.154931354G>C | CA519719973 | F8 | c.2436C>G (p.Leu812=) c.*2102C>G (n.*2102C>G) c.2331C>G (p.Leu777=) | |
| X | g.154931354G>T | CA519719974 | F8 | c.2436C>A (p.Leu812=) c.*2102C>A (n.*2102C>A) c.2331C>A (p.Leu777=) | |
| X | g.154931355A>C | CA414901700 | F8 | c.2435T>G (p.Leu812Arg) c.*2101T>G (n.*2101T>G) c.2330T>G (p.Leu777Arg) | |
| X | g.154931355A>G | CA414901702 | F8 | c.2435T>C (p.Leu812Pro) c.*2101T>C (n.*2101T>C) c.2330T>C (p.Leu777Pro) | gnomAD v4 |
| X | g.154931355A>T | CA414901701 | F8 | c.2435T>A (p.Leu812His) c.*2101T>A (n.*2101T>A) c.2330T>A (p.Leu777His) | |
| X | g.154931356G>A | CA414901703 | F8 | c.2434C>T (p.Leu812Phe) c.*2100C>T (n.*2100C>T) c.2329C>T (p.Leu777Phe) | |
| X | g.154931356G>C | CA414901704 | F8 | c.2434C>G (p.Leu812Val) c.*2100C>G (n.*2100C>G) c.2329C>G (p.Leu777Val) | |
| X | g.154931356G>T | CA414901705 | F8 | c.2434C>A (p.Leu812Ile) c.*2100C>A (n.*2100C>A) c.2329C>A (p.Leu777Ile) | |
| X | g.154931357C>A | CA414901706 | F8 | c.2433G>T (p.Met811Ile) c.*2099G>T (n.*2099G>T) c.2328G>T (p.Met776Ile) | |
| X | g.154931357C= | CA2466836663 | F8 | c.2433G= (p.Met811=) c.*2099G= (n.*2099G=) c.2328G= (p.Met776=) | |
| X | g.154931357C>G | CA414901707 | F8 | c.2433G>C (p.Met811Ile) c.*2099G>C (n.*2099G>C) c.2328G>C (p.Met776Ile) | |
| X | g.154931357C>T | CA414901708 | F8 | c.2433G>A (p.Met811Ile) c.*2099G>A (n.*2099G>A) c.2328G>A (p.Met776Ile) | dbSNP gnomAD v4 |
| X | g.154931358A>C | CA414901709 | F8 | c.2432T>G (p.Met811Arg) c.*2098T>G (n.*2098T>G) c.2327T>G (p.Met776Arg) | |
| X | g.154931358A>G | CA414901710 | F8 | c.2432T>C (p.Met811Thr) c.*2098T>C (n.*2098T>C) c.2327T>C (p.Met776Thr) | gnomAD v4 |
| X | g.154931358A>T | CA414901711 | F8 | c.2432T>A (p.Met811Lys) c.*2098T>A (n.*2098T>A) c.2327T>A (p.Met776Lys) | |
| X | g.154931359T>A | CA414901713 | F8 | c.2431A>T (p.Met811Leu) c.*2097A>T (n.*2097A>T) c.2326A>T (p.Met776Leu) | |
| X | g.154931359T>C | CA414901714 | F8 | c.2431A>G (p.Met811Val) c.*2097A>G (n.*2097A>G) c.2326A>G (p.Met776Val) | |
| X | g.154931359T>G | CA414901712 | F8 | c.2431A>C (p.Met811Leu) c.*2097A>C (n.*2097A>C) c.2326A>C (p.Met776Leu) | |
| X | g.154931360C>A | CA10568329 | F8 | c.2430G>T (p.Leu810Phe) c.*2096G>T (n.*2096G>T) c.2325G>T (p.Leu775Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154931360C= | CA2466836664 | F8 | c.2430G= (p.Leu810=) c.*2096G= (n.*2096G=) c.2325G= (p.Leu775=) | |
| X | g.154931360C>G | CA414901715 | F8 | c.2430G>C (p.Leu810Phe) c.*2096G>C (n.*2096G>C) c.2325G>C (p.Leu775Phe) | |
| X | g.154931360C>T | CA519719986 | F8 | c.2430G>A (p.Leu810=) c.*2096G>A (n.*2096G>A) c.2325G>A (p.Leu775=) | |
| X | g.154931361A= | CA2466836665 | F8 | c.2429T= (p.Leu810=) c.*2095T= (n.*2095T=) c.2324T= (p.Leu775=) | |
| X | g.154931361A>C | CA414901716 | F8 | c.2429T>G (p.Leu810Trp) c.*2095T>G (n.*2095T>G) c.2324T>G (p.Leu775Trp) | |
| X | g.154931361A>G | CA414901717 | F8 | c.2429T>C (p.Leu810Ser) c.*2095T>C (n.*2095T>C) c.2324T>C (p.Leu775Ser) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154931361A>T | CA414901718 | F8 | c.2429T>A (p.Leu810Ter) c.*2095T>A (n.*2095T>A) c.2324T>A (p.Leu775Ter) | |
| X | g.154931362A>C | CA414901719 | F8 | c.2428T>G (p.Leu810Val) c.*2094T>G (n.*2094T>G) c.2323T>G (p.Leu775Val) | |
| X | g.154931362A>G | CA519719991 | F8 | c.2428T>C (p.Leu810=) c.*2094T>C (n.*2094T>C) c.2323T>C (p.Leu775=) | COSMIC COSMIC |
| X | g.154931362A>T | CA414901720 | F8 | c.2428T>A (p.Leu810Met) c.*2094T>A (n.*2094T>A) c.2323T>A (p.Leu775Met) | |
| X | g.154931363C>A | CA414901721 | F8 | c.2427G>T (p.Leu809Phe) c.*2093G>T (n.*2093G>T) c.2322G>T (p.Leu774Phe) | |
| X | g.154931363C>G | CA414901722 | F8 | c.2427G>C (p.Leu809Phe) c.*2093G>C (n.*2093G>C) c.2322G>C (p.Leu774Phe) | |
| X | g.154931363C>T | CA519719995 | F8 | c.2427G>A (p.Leu809=) c.*2093G>A (n.*2093G>A) c.2322G>A (p.Leu774=) |