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.154191509T>C | CA2824290645 | OPN1MW | c.579-179T>C (n.579-179T>C) n.588+1287T>C c.166-179T>C | |
| X | g.154191510G>A | CA2466617928 | OPN1MW | c.579-178G>A (n.579-178G>A) n.588+1288G>A c.166-178G>A | dbSNP |
| X | g.154191510G= | CA2466617927 | OPN1MW | c.579-178G= (n.579-178G=) n.588+1288G= c.166-178G= | |
| X | g.154191512A= | CA2466617929 | OPN1MW | c.579-176A= (n.579-176A=) n.588+1290A= c.166-176A= | |
| X | g.154191512A>G | CA873298009 | OPN1MW | c.579-176A>G (n.579-176A>G) n.588+1290A>G c.166-176A>G | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154191519G>C | CA1138562327 | OPN1MW | c.579-169G>C (n.579-169G>C) n.588+1297G>C c.166-169G>C | gnomAD v3 gnomAD v4 |
| X | g.154191522G>A | CA2466617931 | OPN1MW | c.579-166G>A (n.579-166G>A) n.588+1300G>A c.166-166G>A | dbSNP |
| X | g.154191522G= | CA2466617930 | OPN1MW | c.579-166G= (n.579-166G=) n.588+1300G= c.166-166G= | |
| X | g.154191523G>C | CA2466617933 | OPN1MW | c.579-165G>C (n.579-165G>C) n.588+1301G>C c.166-165G>C | dbSNP |
| X | g.154191523G= | CA2466617932 | OPN1MW | c.579-165G= (n.579-165G=) n.588+1301G= c.166-165G= | |
| X | g.154191524T>C | CA873298011 | OPN1MW | c.579-164T>C (n.579-164T>C) n.588+1302T>C c.166-164T>C | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154191524T= | CA2466617934 | OPN1MW | c.579-164T= (n.579-164T=) n.588+1302T= c.166-164T= | |
| X | g.154191525G>A | CA2466617936 | OPN1MW | c.579-163G>A (n.579-163G>A) n.588+1303G>A c.166-163G>A | dbSNP |
| X | g.154191525G= | CA2466617935 | OPN1MW | c.579-163G= (n.579-163G=) n.588+1303G= c.166-163G= | |
| X | g.154191528T>C | CA873298020 | OPN1MW | c.579-160T>C (n.579-160T>C) n.588+1306T>C c.166-160T>C | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154191528T= | CA2466617937 | OPN1MW | c.579-160T= (n.579-160T=) n.588+1306T= c.166-160T= | |
| X | g.154191531C>G | CA2739242235 | OPN1MW | c.579-157C>G (n.579-157C>G) n.588+1309C>G c.166-157C>G | dbSNP |
| X | g.154191532_154191533delinsAC | CA2466617938 | OPN1MW | c.579-156_579-155delinsAC (n.579-156_579-155delinsAC) n.588+1310_588+1311delinsAC c.166-156_166-155delinsAC | |
| X | g.154191533del | CA873298022 | OPN1MW | c.579-155del (n.579-155del) n.588+1311del c.166-155del | dbSNP |
| X | g.154191535G= | CA2466617939 | OPN1MW | c.579-153G= (n.579-153G=) n.588+1313G= c.166-153G= | |
| X | g.154191535G>T | CA1138562330 | OPN1MW | c.579-153G>T (n.579-153G>T) n.588+1313G>T c.166-153G>T | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154191539T>C | CA2824290646 | OPN1MW | c.579-149T>C (n.579-149T>C) n.588+1317T>C c.166-149T>C | |
| X | g.154191540G>A | CA2739242236 | OPN1MW | c.579-148G>A (n.579-148G>A) n.588+1318G>A c.166-148G>A | dbSNP |
| X | g.154191541A>T | CA2561703152 | OPN1MW | c.579-147A>T (n.579-147A>T) n.588+1319A>T c.166-147A>T | |
| X | g.154191542T>G | CA2529568171 | OPN1MW | c.579-146T>G (n.579-146T>G) n.588+1320T>G c.166-146T>G | |
| X | g.154191554G= | CA2466617940 | OPN1MW | c.579-134G= (n.579-134G=) n.588+1332G= c.166-134G= | |
| X | g.154191554G>T | CA2466617941 | OPN1MW | c.579-134G>T (n.579-134G>T) n.588+1332G>T c.166-134G>T | dbSNP |
| X | g.154191555G>C | CA2466617943 | OPN1MW | c.579-133G>C (n.579-133G>C) n.588+1333G>C c.166-133G>C | dbSNP |
| X | g.154191555G= | CA2466617942 | OPN1MW | c.579-133G= (n.579-133G=) n.588+1333G= c.166-133G= | |
| X | g.154191556G= | CA2466617944 | OPN1MW | c.579-132G= (n.579-132G=) n.588+1334G= c.166-132G= | |
| X | g.154191556G>T | CA2466617945 | OPN1MW | c.579-132G>T (n.579-132G>T) n.588+1334G>T c.166-132G>T | dbSNP |
| X | g.154191564A>C | CA2824290647 | OPN1MW | c.579-124A>C (n.579-124A>C) n.588+1342A>C c.166-124A>C | |
| X | g.154191573G= | CA2466617946 | OPN1MW | c.579-115G= (n.579-115G=) n.588+1351G= c.166-115G= | |
| X | g.154191573G>T | CA1138562334 | OPN1MW | c.579-115G>T (n.579-115G>T) n.588+1351G>T c.166-115G>T | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154191581C= | CA2466617947 | OPN1MW | c.579-107C= (n.579-107C=) n.588+1359C= c.166-107C= | |
| X | g.154191581C>T | CA873298024 | OPN1MW | c.579-107C>T (n.579-107C>T) n.588+1359C>T c.166-107C>T | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154191590A>G | CA2824290649 | OPN1MW | c.579-98A>G (n.579-98A>G) n.588+1368A>G c.166-98A>G | |
| X | g.154191596dup | CA2824290648 | OPN1MW | c.579-92dup (n.579-92dup) n.588+1374dup c.166-92dup | |
| X | g.154191594A>C | CA2695106891 | OPN1MW | c.579-94A>C (n.579-94A>C) n.588+1372A>C c.166-94A>C | gnomAD v4 |
| X | g.154191595A>C | CA2824290650 | OPN1MW | c.579-93A>C (n.579-93A>C) n.588+1373A>C c.166-93A>C | |
| X | g.154191596A>G | CA2824290651 | OPN1MW | c.579-92A>G (n.579-92A>G) n.588+1374A>G c.166-92A>G | |
| X | g.154191596A>T | CA2695106892 | OPN1MW | c.579-92A>T (n.579-92A>T) n.588+1374A>T c.166-92A>T | gnomAD v4 |
| X | g.154191600del | CA2695106893 | OPN1MW | c.579-88del (n.579-88del) n.588+1378del c.166-88del | gnomAD v4 |
| X | g.154191599A>C | CA2824290652 | OPN1MW | c.579-89A>C (n.579-89A>C) n.588+1377A>C c.166-89A>C | |
| X | g.154191600A>C | CA1138562335 | OPN1MW | c.579-88A>C (n.579-88A>C) n.588+1378A>C c.166-88A>C | gnomAD v3 gnomAD v4 |
| X | g.154191600_154191601del | CA2824290653 | OPN1MW | c.579-88_579-87del (n.579-88_579-87del) n.588+1378_588+1379del c.166-88_166-87del | |
| X | g.154191605A>C | CA2695106894 | OPN1MW | c.579-83A>C (n.579-83A>C) n.588+1383A>C c.166-83A>C | gnomAD v4 |
| X | g.154191606C>A | CA1138562336 | OPN1MW | c.579-82C>A (n.579-82C>A) n.588+1384C>A c.166-82C>A | gnomAD v3 gnomAD v4 |
| X | g.154191606C>T | CA2505477721 | OPN1MW | c.579-82C>T (n.579-82C>T) n.588+1384C>T c.166-82C>T | |
| X | g.154191608C>A | CA2695106895 | OPN1MW | c.579-80C>A (n.579-80C>A) n.588+1386C>A c.166-80C>A | gnomAD v4 |
| X | g.154191608C= | CA2466617948 | OPN1MW | c.579-80C= (n.579-80C=) n.588+1386C= c.166-80C= | |
| X | g.154191608C>T | CA2466617949 | OPN1MW | c.579-80C>T (n.579-80C>T) n.588+1386C>T c.166-80C>T | dbSNP |