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 |
|---|---|---|---|---|---|
| 11 | g.30233695A>C | CA473783160 | ARL14EP-DT,FSHB | c.285A>C (p.Pro95=) n.463+83195T>G n.284+83195T>G | |
| 11 | g.30233695A>G | CA473783161 | ARL14EP-DT,FSHB | c.285A>G (p.Pro95=) n.463+83195T>C n.284+83195T>C | gnomAD v4 |
| 11 | g.30233695A>T | CA473783162 | ARL14EP-DT,FSHB | c.285A>T (p.Pro95=) n.463+83195T>A n.284+83195T>A | COSMIC |
| 11 | g.30233696G>A | CA5930793 | ARL14EP-DT,FSHB | c.286G>A (p.Val96Met) n.463+83194C>T n.284+83194C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.30233696G>C | CA380084356 | ARL14EP-DT,FSHB | c.286G>C (p.Val96Leu) n.463+83194C>G n.284+83194C>G | |
| 11 | g.30233696G= | CA1961322280 | ARL14EP-DT,FSHB | c.286G= (p.Val96=) n.463+83194C= n.284+83194C= | |
| 11 | g.30233696G>T | CA380084357 | ARL14EP-DT,FSHB | c.286G>T (p.Val96Leu) n.463+83194C>A n.284+83194C>A | |
| 11 | g.30233697T>A | CA380084360 | ARL14EP-DT,FSHB | c.287T>A (p.Val96Glu) n.463+83193A>T n.284+83193A>T | |
| 11 | g.30233697T>C | CA380084359 | ARL14EP-DT,FSHB | c.287T>C (p.Val96Ala) n.463+83193A>G n.284+83193A>G | ClinVar |
| 11 | g.30233697T>G | CA380084358 | ARL14EP-DT,FSHB | c.287T>G (p.Val96Gly) n.463+83193A>C n.284+83193A>C | gnomAD v4 |
| 11 | g.30233698G>A | CA473783166 | ARL14EP-DT,FSHB | c.288G>A (p.Val96=) n.463+83192C>T n.284+83192C>T | gnomAD v4 |
| 11 | g.30233698G>C | CA473783164 | ARL14EP-DT,FSHB | c.288G>C (p.Val96=) n.463+83192C>G n.284+83192C>G | |
| 11 | g.30233698G>T | CA473783163 | ARL14EP-DT,FSHB | c.288G>T (p.Val96=) n.463+83192C>A n.284+83192C>A | |
| 11 | g.30233699del | CA2695213706 | ARL14EP-DT,FSHB | c.289del (p.Ala97ProfsTer?) n.463+83192del n.284+83192del | |
| 11 | g.30233699G>A | CA380084361 | ARL14EP-DT,FSHB | c.289G>A (p.Ala97Thr) n.463+83191C>T n.284+83191C>T | |
| 11 | g.30233699G>C | CA380084363 | ARL14EP-DT,FSHB | c.289G>C (p.Ala97Pro) n.463+83191C>G n.284+83191C>G | |
| 11 | g.30233699G= | CA1961322281 | ARL14EP-DT,FSHB | c.289G= (p.Ala97=) n.463+83191C= n.284+83191C= | |
| 11 | g.30233699G>T | CA380084362 | ARL14EP-DT,FSHB | c.289G>T (p.Ala97Ser) n.463+83191C>A n.284+83191C>A | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.30233700C>A | CA380084364 | ARL14EP-DT,FSHB | c.290C>A (p.Ala97Asp) n.463+83190G>T n.284+83190G>T | gnomAD v4 COSMIC |
| 11 | g.30233700C>G | CA380084365 | ARL14EP-DT,FSHB | c.290C>G (p.Ala97Gly) n.463+83190G>C n.284+83190G>C | |
| 11 | g.30233700C>T | CA380084366 | ARL14EP-DT,FSHB | c.290C>T (p.Ala97Val) n.463+83190G>A n.284+83190G>A | gnomAD v4 |
| 11 | g.30233701C>A | CA220135128 | ARL14EP-DT,FSHB | c.291C>A (p.Ala97=) n.463+83189G>T n.284+83189G>T | dbSNP |
| 11 | g.30233701C= | CA1961322282 | ARL14EP-DT,FSHB | c.291C= (p.Ala97=) n.463+83189G= n.284+83189G= | |
| 11 | g.30233701C>G | CA473783170 | ARL14EP-DT,FSHB | c.291C>G (p.Ala97=) n.463+83189G>C n.284+83189G>C | |
| 11 | g.30233701C>T | CA473783171 | ARL14EP-DT,FSHB | c.291C>T (p.Ala97=) n.463+83189G>A n.284+83189G>A | COSMIC |
| 11 | g.30233702A>C | CA380084367 | ARL14EP-DT,FSHB | c.292A>C (p.Thr98Pro) n.463+83188T>G n.284+83188T>G | |
| 11 | g.30233702A>G | CA380084368 | ARL14EP-DT,FSHB | c.292A>G (p.Thr98Ala) n.463+83188T>C n.284+83188T>C | |
| 11 | g.30233702A>T | CA380084369 | ARL14EP-DT,FSHB | c.292A>T (p.Thr98Ser) n.463+83188T>A n.284+83188T>A | |
| 11 | g.30233703C>A | CA380084370 | ARL14EP-DT,FSHB | c.293C>A (p.Thr98Asn) n.463+83187G>T n.284+83187G>T | |
| 11 | g.30233703C= | CA1961322283 | ARL14EP-DT,FSHB | c.293C= (p.Thr98=) n.463+83187G= n.284+83187G= | |
| 11 | g.30233703C>G | CA380084371 | ARL14EP-DT,FSHB | c.293C>G (p.Thr98Ser) n.463+83187G>C n.284+83187G>C | |
| 11 | g.30233703C>T | CA5930794 | ARL14EP-DT,FSHB | c.293C>T (p.Thr98Ile) n.463+83187G>A n.284+83187G>A | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 11 | g.30233704C>A | CA473783173 | ARL14EP-DT,FSHB | c.294C>A (p.Thr98=) n.463+83186G>T n.284+83186G>T | |
| 11 | g.30233704C= | CA1961322284 | ARL14EP-DT,FSHB | c.294C= (p.Thr98=) n.463+83186G= n.284+83186G= | |
| 11 | g.30233704C>G | CA473783174 | ARL14EP-DT,FSHB | c.294C>G (p.Thr98=) n.463+83186G>C n.284+83186G>C | |
| 11 | g.30233704C>T | CA5930795 | ARL14EP-DT,FSHB | c.294C>T (p.Thr98=) n.463+83186G>A n.284+83186G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.30233705C>A | CA380084372 | ARL14EP-DT,FSHB | c.295C>A (p.Gln99Lys) n.463+83185G>T n.284+83185G>T | |
| 11 | g.30233705C= | CA1961322285 | ARL14EP-DT,FSHB | c.295C= (p.Gln99=) n.463+83185G= n.284+83185G= | |
| 11 | g.30233705C>G | CA380084373 | ARL14EP-DT,FSHB | c.295C>G (p.Gln99Glu) n.463+83185G>C n.284+83185G>C | |
| 11 | g.30233705C>T | CA380084374 | ARL14EP-DT,FSHB | c.295C>T (p.Gln99Ter) n.463+83185G>A n.284+83185G>A | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.30233706A= | CA1961322286 | ARL14EP-DT,FSHB | c.296A= (p.Gln99=) n.463+83184T= n.284+83184T= | |
| 11 | g.30233706A>C | CA380084375 | ARL14EP-DT,FSHB | c.296A>C (p.Gln99Pro) n.463+83184T>G n.284+83184T>G | dbSNP gnomAD v4 |
| 11 | g.30233706A>G | CA380084377 | ARL14EP-DT,FSHB | c.296A>G (p.Gln99Arg) n.463+83184T>C n.284+83184T>C | |
| 11 | g.30233706A>T | CA380084376 | ARL14EP-DT,FSHB | c.296A>T (p.Gln99Leu) n.463+83184T>A n.284+83184T>A | |
| 11 | g.30233707G>A | CA473783177 | ARL14EP-DT,FSHB | c.297G>A (p.Gln99=) n.463+83183C>T n.284+83183C>T | |
| 11 | g.30233707G>C | CA380084378 | ARL14EP-DT,FSHB | c.297G>C (p.Gln99His) n.463+83183C>G n.284+83183C>G | |
| 11 | g.30233707G>T | CA380084379 | ARL14EP-DT,FSHB | c.297G>T (p.Gln99His) n.463+83183C>A n.284+83183C>A | gnomAD v4 |
| 11 | g.30233708T>A | CA380084380 | ARL14EP-DT,FSHB | c.298T>A (p.Cys100Ser) n.463+83182A>T n.284+83182A>T | |
| 11 | g.30233708T>C | CA199220 | ARL14EP-DT,FSHB | c.298T>C (p.Cys100Arg) n.463+83182A>G n.284+83182A>G | ClinVar dbSNP |
| 11 | g.30233708T>G | CA380084381 | ARL14EP-DT,FSHB | c.298T>G (p.Cys100Gly) n.463+83182A>C n.284+83182A>C |