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 |
|---|---|---|---|---|---|
| 17 | g.74919984_74919999del | CA2639747710 | USH1G | c.839_854del (p.Glu280ValfsTer?) c.*438_*453del (n.*438_*453del) c.530_545del (p.Glu177ValfsTer?) | gnomAD v4 |
| 17 | g.74919984G>A | CA502036875 | USH1G | c.852C>T (p.Ser284=) c.*451C>T (n.*451C>T) c.543C>T (p.Ser181=) | COSMIC |
| 17 | g.74919984G>C | CA502036876 | USH1G | c.852C>G (p.Ser284=) c.*451C>G (n.*451C>G) c.543C>G (p.Ser181=) | |
| 17 | g.74919984G>T | CA502036878 | USH1G | c.852C>A (p.Ser284=) c.*451C>A (n.*451C>A) c.543C>A (p.Ser181=) | |
| 17 | g.74919984_74920004delinsGGAGACGCTGTCCTCGTCCGA | CA2275255370 | USH1G | c.832_852delinsTCGGACGAGGACAGCGTCTCC (p.Ser278=) c.*431_*451delinsTCGGACGAGGACAGCGTCTCC (n.*431_*451delinsTCGGACGAGGACAGCGTCTCC) c.523_543delinsTCGGACGAGGACAGCGTCTCC (p.Ser175=) | |
| 17 | g.74919985G>A | CA400962945 | USH1G | c.851C>T (p.Ser284Phe) c.*450C>T (n.*450C>T) c.542C>T (p.Ser181Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.74919985G>C | CA400962947 | USH1G | c.851C>G (p.Ser284Cys) c.*450C>G (n.*450C>G) c.542C>G (p.Ser181Cys) | ClinVar dbSNP |
| 17 | g.74919985G= | CA2275255371 | USH1G | c.851C= (p.Ser284=) c.*450C= (n.*450C=) c.542C= (p.Ser181=) | |
| 17 | g.74919985G>T | CA400962951 | USH1G | c.851C>A (p.Ser284Tyr) c.*450C>A (n.*450C>A) c.542C>A (p.Ser181Tyr) | |
| 17 | g.74919988_74920007del | CA340026 | USH1G | c.832_851del (p.Ser278ProfsTer?) c.*431_*450del (n.*431_*450del) c.523_542del (p.Ser175ProfsTer?) | ClinVar dbSNP |
| 17 | g.74919986A>C | CA400962957 | USH1G | c.850T>G (p.Ser284Ala) c.*449T>G (n.*449T>G) c.541T>G (p.Ser181Ala) | |
| 17 | g.74919986A>G | CA400962960 | USH1G | c.850T>C (p.Ser284Pro) c.*449T>C (n.*449T>C) c.541T>C (p.Ser181Pro) | |
| 17 | g.74919986A>T | CA400962959 | USH1G | c.850T>A (p.Ser284Thr) c.*449T>A (n.*449T>A) c.541T>A (p.Ser181Thr) | |
| 17 | g.74919987G>A | CA8753986 | USH1G | c.849C>T (p.Val283=) c.*448C>T (n.*448C>T) c.540C>T (p.Val180=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.74919987G>C | CA502036885 | USH1G | c.849C>G (p.Val283=) c.*448C>G (n.*448C>G) c.540C>G (p.Val180=) | |
| 17 | g.74919987G= | CA2275255372 | USH1G | c.849C= (p.Val283=) c.*448C= (n.*448C=) c.540C= (p.Val180=) | |
| 17 | g.74919987G>T | CA502036886 | USH1G | c.849C>A (p.Val283=) c.*448C>A (n.*448C>A) c.540C>A (p.Val180=) | |
| 17 | g.74919988A>C | CA400962967 | USH1G | c.848T>G (p.Val283Gly) c.*447T>G (n.*447T>G) c.539T>G (p.Val180Gly) | |
| 17 | g.74919988A>G | CA400962968 | USH1G | c.848T>C (p.Val283Ala) c.*447T>C (n.*447T>C) c.539T>C (p.Val180Ala) | |
| 17 | g.74919988A>T | CA400962970 | USH1G | c.848T>A (p.Val283Asp) c.*447T>A (n.*447T>A) c.539T>A (p.Val180Asp) | |
| 17 | g.74919989C>A | CA400962976 | USH1G | c.847G>T (p.Val283Phe) c.*446G>T (n.*446G>T) c.538G>T (p.Val180Phe) | |
| 17 | g.74919989C= | CA2275255373 | USH1G | c.847G= (p.Val283=) c.*446G= (n.*446G=) c.538G= (p.Val180=) | |
| 17 | g.74919989C>G | CA400962974 | USH1G | c.847G>C (p.Val283Leu) c.*446G>C (n.*446G>C) c.538G>C (p.Val180Leu) | |
| 17 | g.74919989C>T | CA400962975 | USH1G | c.847G>A (p.Val283Ile) c.*446G>A (n.*446G>A) c.538G>A (p.Val180Ile) | ClinVar dbSNP gnomAD v4 |
| 17 | g.74919990G>A | CA502036893 | USH1G | c.846C>T (p.Ser282=) c.*445C>T (n.*445C>T) c.537C>T (p.Ser179=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.74919990G>C | CA400962980 | USH1G | c.846C>G (p.Ser282Arg) c.*445C>G (n.*445C>G) c.537C>G (p.Ser179Arg) | |
| 17 | g.74919990G= | CA2275255374 | USH1G | c.846C= (p.Ser282=) c.*445C= (n.*445C=) c.537C= (p.Ser179=) | |
| 17 | g.74919990G>T | CA400962981 | USH1G | c.846C>A (p.Ser282Arg) c.*445C>A (n.*445C>A) c.537C>A (p.Ser179Arg) | gnomAD v4 |
| 17 | g.74919991C>A | CA400962983 | USH1G | c.845G>T (p.Ser282Ile) c.*444G>T (n.*444G>T) c.536G>T (p.Ser179Ile) | |
| 17 | g.74919991C= | CA2275255375 | USH1G | c.845G= (p.Ser282=) c.*444G= (n.*444G=) c.536G= (p.Ser179=) | |
| 17 | g.74919991C>G | CA8753987 | USH1G | c.845G>C (p.Ser282Thr) c.*444G>C (n.*444G>C) c.536G>C (p.Ser179Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.74919991C>T | CA400962985 | USH1G | c.845G>A (p.Ser282Asn) c.*444G>A (n.*444G>A) c.536G>A (p.Ser179Asn) | |
| 17 | g.74919992T>A | CA400962988 | USH1G | c.844A>T (p.Ser282Cys) c.*443A>T (n.*443A>T) c.535A>T (p.Ser179Cys) | |
| 17 | g.74919992T>C | CA8753988 | USH1G | c.844A>G (p.Ser282Gly) c.*443A>G (n.*443A>G) c.535A>G (p.Ser179Gly) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 17 | g.74919992T>G | CA400962992 | USH1G | c.844A>C (p.Ser282Arg) c.*443A>C (n.*443A>C) c.535A>C (p.Ser179Arg) | |
| 17 | g.74919992T= | CA2275255376 | USH1G | c.844A= (p.Ser282=) c.*443A= (n.*443A=) c.535A= (p.Ser179=) | |
| 17 | g.74919993G>A | CA502036900 | USH1G | c.843C>T (p.Asp281=) c.*442C>T (n.*442C>T) c.534C>T (p.Asp178=) | |
| 17 | g.74919993G>C | CA400962996 | USH1G | c.843C>G (p.Asp281Glu) c.*442C>G (n.*442C>G) c.534C>G (p.Asp178Glu) | |
| 17 | g.74919993G= | CA2275255377 | USH1G | c.843C= (p.Asp281=) c.*442C= (n.*442C=) c.534C= (p.Asp178=) | |
| 17 | g.74919993G>T | CA400962999 | USH1G | c.843C>A (p.Asp281Glu) c.*442C>A (n.*442C>A) c.534C>A (p.Asp178Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.74919994T>A | CA400963001 | USH1G | c.842A>T (p.Asp281Val) c.*441A>T (n.*441A>T) c.533A>T (p.Asp178Val) | |
| 17 | g.74919994T>C | CA400963004 | USH1G | c.842A>G (p.Asp281Gly) c.*441A>G (n.*441A>G) c.533A>G (p.Asp178Gly) | |
| 17 | g.74919994T>G | CA400963007 | USH1G | c.842A>C (p.Asp281Ala) c.*441A>C (n.*441A>C) c.533A>C (p.Asp178Ala) | |
| 17 | g.74919995C>A | CA400963010 | USH1G | c.841G>T (p.Asp281Tyr) c.*440G>T (n.*440G>T) c.532G>T (p.Asp178Tyr) | |
| 17 | g.74919995C= | CA2275255378 | USH1G | c.841G= (p.Asp281=) c.*440G= (n.*440G=) c.532G= (p.Asp178=) | |
| 17 | g.74919995C>G | CA400963014 | USH1G | c.841G>C (p.Asp281His) c.*440G>C (n.*440G>C) c.532G>C (p.Asp178His) | |
| 17 | g.74919995C>T | CA400963012 | USH1G | c.841G>A (p.Asp281Asn) c.*440G>A (n.*440G>A) c.532G>A (p.Asp178Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.74919996C>A | CA400963016 | USH1G | c.840G>T (p.Glu280Asp) c.*439G>T (n.*439G>T) c.531G>T (p.Glu177Asp) | |
| 17 | g.74919996C= | CA2275255379 | USH1G | c.840G= (p.Glu280=) c.*439G= (n.*439G=) c.531G= (p.Glu177=) | |
| 17 | g.74919996C>G | CA400963018 | USH1G | c.840G>C (p.Glu280Asp) c.*439G>C (n.*439G>C) c.531G>C (p.Glu177Asp) | gnomAD v4 |