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.17612638C>A | CA379804221 | OTOG | c.6347C>A (p.Pro2116His) c.6311C>A (p.Pro2104His) c.3365C>A (p.Pro1122His) | gnomAD v4 |
| 11 | g.17612638C= | CA1955233058 | OTOG | c.6347C= (p.Pro2116=) c.6311C= (p.Pro2104=) c.3365C= (p.Pro1122=) | |
| 11 | g.17612638C>G | CA379804220 | OTOG | c.6347C>G (p.Pro2116Arg) c.6311C>G (p.Pro2104Arg) c.3365C>G (p.Pro1122Arg) | |
| 11 | g.17612638C>T | CA130587 | OTOG | c.6347C>T (p.Pro2116Leu) c.6311C>T (p.Pro2104Leu) c.3365C>T (p.Pro1122Leu) | ClinVar dbSNP gnomAD v4 |
| 11 | g.17612639T>A | CA473305718 | OTOG | c.6348T>A (p.Pro2116=) c.6312T>A (p.Pro2104=) c.3366T>A (p.Pro1122=) | |
| 11 | g.17612639T>C | CA473305716 | OTOG | c.6348T>C (p.Pro2116=) c.6312T>C (p.Pro2104=) c.3366T>C (p.Pro1122=) | gnomAD v4 |
| 11 | g.17612639T>G | CA473305717 | OTOG | c.6348T>G (p.Pro2116=) c.6312T>G (p.Pro2104=) c.3366T>G (p.Pro1122=) | |
| 11 | g.17612640G>A | CA379804222 | OTOG | c.6349G>A (p.Asp2117Asn) c.6313G>A (p.Asp2105Asn) c.3367G>A (p.Asp1123Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17612640G>C | CA379804225 | OTOG | c.6349G>C (p.Asp2117His) c.6313G>C (p.Asp2105His) c.3367G>C (p.Asp1123His) | gnomAD v4 |
| 11 | g.17612640G= | CA1955233059 | OTOG | c.6349G= (p.Asp2117=) c.6313G= (p.Asp2105=) c.3367G= (p.Asp1123=) | |
| 11 | g.17612640G>T | CA379804223 | OTOG | c.6349G>T (p.Asp2117Tyr) c.6313G>T (p.Asp2105Tyr) c.3367G>T (p.Asp1123Tyr) | |
| 11 | g.17612641A>C | CA379804226 | OTOG | c.6350A>C (p.Asp2117Ala) c.6314A>C (p.Asp2105Ala) c.3368A>C (p.Asp1123Ala) | gnomAD v4 |
| 11 | g.17612641A>G | CA379804228 | OTOG | c.6350A>G (p.Asp2117Gly) c.6314A>G (p.Asp2105Gly) c.3368A>G (p.Asp1123Gly) | |
| 11 | g.17612641A>T | CA379804227 | OTOG | c.6350A>T (p.Asp2117Val) c.6314A>T (p.Asp2105Val) c.3368A>T (p.Asp1123Val) | |
| 11 | g.17612642C>A | CA379804229 | OTOG | c.6351C>A (p.Asp2117Glu) c.6315C>A (p.Asp2105Glu) c.3369C>A (p.Asp1123Glu) | gnomAD v4 |
| 11 | g.17612642C>G | CA379804230 | OTOG | c.6351C>G (p.Asp2117Glu) c.6315C>G (p.Asp2105Glu) c.3369C>G (p.Asp1123Glu) | |
| 11 | g.17612642C>T | CA473305720 | OTOG | c.6351C>T (p.Asp2117=) c.6315C>T (p.Asp2105=) c.3369C>T (p.Asp1123=) | |
| 11 | g.17612643C>A | CA379804231 | OTOG | c.6352C>A (p.Leu2118Met) c.6316C>A (p.Leu2106Met) c.3370C>A (p.Leu1124Met) | dbSNP gnomAD v4 |
| 11 | g.17612643C= | CA1955233060 | OTOG | c.6352C= (p.Leu2118=) c.6316C= (p.Leu2106=) c.3370C= (p.Leu1124=) | |
| 11 | g.17612643C>G | CA379804232 | OTOG | c.6352C>G (p.Leu2118Val) c.6316C>G (p.Leu2106Val) c.3370C>G (p.Leu1124Val) | |
| 11 | g.17612643C>T | CA473305722 | OTOG | c.6352C>T (p.Leu2118=) c.6316C>T (p.Leu2106=) c.3370C>T (p.Leu1124=) | dbSNP |
| 11 | g.17612644T>A | CA379804234 | OTOG | c.6353T>A (p.Leu2118Gln) c.6317T>A (p.Leu2106Gln) c.3371T>A (p.Leu1124Gln) | gnomAD v4 |
| 11 | g.17612644T>C | CA379804236 | OTOG | c.6353T>C (p.Leu2118Pro) c.6317T>C (p.Leu2106Pro) c.3371T>C (p.Leu1124Pro) | |
| 11 | g.17612644T>G | CA379804237 | OTOG | c.6353T>G (p.Leu2118Arg) c.6317T>G (p.Leu2106Arg) c.3371T>G (p.Leu1124Arg) | |
| 11 | g.17612645G>A | CA473305723 | OTOG | c.6354G>A (p.Leu2118=) c.6318G>A (p.Leu2106=) c.3372G>A (p.Leu1124=) | |
| 11 | g.17612645G>C | CA473305724 | OTOG | c.6354G>C (p.Leu2118=) c.6318G>C (p.Leu2106=) c.3372G>C (p.Leu1124=) | |
| 11 | g.17612645G>T | CA473305725 | OTOG | c.6354G>T (p.Leu2118=) c.6318G>T (p.Leu2106=) c.3372G>T (p.Leu1124=) | |
| 11 | g.17612646A>C | CA379804240 | OTOG | c.6355A>C (p.Ser2119Arg) c.6319A>C (p.Ser2107Arg) c.3373A>C (p.Ser1125Arg) | |
| 11 | g.17612646A>G | CA379804238 | OTOG | c.6355A>G (p.Ser2119Gly) c.6319A>G (p.Ser2107Gly) c.3373A>G (p.Ser1125Gly) | |
| 11 | g.17612646A>T | CA379804239 | OTOG | c.6355A>T (p.Ser2119Cys) c.6319A>T (p.Ser2107Cys) c.3373A>T (p.Ser1125Cys) | |
| 11 | g.17612647G>A | CA379804241 | OTOG | c.6356G>A (p.Ser2119Asn) c.6320G>A (p.Ser2107Asn) c.3374G>A (p.Ser1125Asn) | gnomAD v4 |
| 11 | g.17612647G>C | CA379804242 | OTOG | c.6356G>C (p.Ser2119Thr) c.6320G>C (p.Ser2107Thr) c.3374G>C (p.Ser1125Thr) | |
| 11 | g.17612647G>T | CA379804243 | OTOG | c.6356G>T (p.Ser2119Ile) c.6320G>T (p.Ser2107Ile) c.3374G>T (p.Ser1125Ile) | |
| 11 | g.17612648C>A | CA379804244 | OTOG | c.6357C>A (p.Ser2119Arg) c.6321C>A (p.Ser2107Arg) c.3375C>A (p.Ser1125Arg) | |
| 11 | g.17612648C= | CA1955233061 | OTOG | c.6357C= (p.Ser2119=) c.6321C= (p.Ser2107=) c.3375C= (p.Ser1125=) | |
| 11 | g.17612648C>G | CA5906020 | OTOG | c.6357C>G (p.Ser2119Arg) c.6321C>G (p.Ser2107Arg) c.3375C>G (p.Ser1125Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17612648C>T | CA473305728 | OTOG | c.6357C>T (p.Ser2119=) c.6321C>T (p.Ser2107=) c.3375C>T (p.Ser1125=) | |
| 11 | g.17612649T>A | CA379804245 | OTOG | c.6358T>A (p.Phe2120Ile) c.6322T>A (p.Phe2108Ile) c.3376T>A (p.Phe1126Ile) | |
| 11 | g.17612649T>C | CA379804247 | OTOG | c.6358T>C (p.Phe2120Leu) c.6322T>C (p.Phe2108Leu) c.3376T>C (p.Phe1126Leu) | |
| 11 | g.17612649T>G | CA379804246 | OTOG | c.6358T>G (p.Phe2120Val) c.6322T>G (p.Phe2108Val) c.3376T>G (p.Phe1126Val) | |
| 11 | g.17612650T>A | CA379804248 | OTOG | c.6359T>A (p.Phe2120Tyr) c.6323T>A (p.Phe2108Tyr) c.3377T>A (p.Phe1126Tyr) | gnomAD v4 |
| 11 | g.17612650T>C | CA379804249 | OTOG | c.6359T>C (p.Phe2120Ser) c.6323T>C (p.Phe2108Ser) c.3377T>C (p.Phe1126Ser) | |
| 11 | g.17612650T>G | CA379804251 | OTOG | c.6359T>G (p.Phe2120Cys) c.6323T>G (p.Phe2108Cys) c.3377T>G (p.Phe1126Cys) | |
| 11 | g.17612651C>A | CA379804252 | OTOG | c.6360C>A (p.Phe2120Leu) c.6324C>A (p.Phe2108Leu) c.3378C>A (p.Phe1126Leu) | gnomAD v4 |
| 11 | g.17612651C= | CA1955233062 | OTOG | c.6360C= (p.Phe2120=) c.6324C= (p.Phe2108=) c.3378C= (p.Phe1126=) | |
| 11 | g.17612651C>G | CA379804254 | OTOG | c.6360C>G (p.Phe2120Leu) c.6324C>G (p.Phe2108Leu) c.3378C>G (p.Phe1126Leu) | |
| 11 | g.17612651C>T | CA5906021 | OTOG | c.6360C>T (p.Phe2120=) c.6324C>T (p.Phe2108=) c.3378C>T (p.Phe1126=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17612652G>A | CA218478819 | OTOG | c.6361G>A (p.Val2121Met) c.6325G>A (p.Val2109Met) c.3379G>A (p.Val1127Met) | dbSNP gnomAD v4 |
| 11 | g.17612652G>C | CA379804257 | OTOG | c.6361G>C (p.Val2121Leu) c.6325G>C (p.Val2109Leu) c.3379G>C (p.Val1127Leu) | dbSNP |
| 11 | g.17612652G= | CA1955233063 | OTOG | c.6361G= (p.Val2121=) c.6325G= (p.Val2109=) c.3379G= (p.Val1127=) |