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 |
|---|---|---|---|---|---|
| 5 | g.69534744C>A | CA3294549 | OCLN | c.942C>A (p.Asp314Glu) c.780C>A (p.Asp260Glu) c.*118C>A (n.*118C>A) c.189C>A (p.Asp63Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69534744C= | CA1553964484 | OCLN | c.942C= (p.Asp314=) c.780C= (p.Asp260=) c.*118C= (n.*118C=) c.189C= (p.Asp63=) | |
| 5 | g.69534744C>G | CA360066556 | OCLN | c.942C>G (p.Asp314Glu) c.780C>G (p.Asp260Glu) c.*118C>G (n.*118C>G) c.189C>G (p.Asp63Glu) | |
| 5 | g.69534744C>T | CA444855076 | OCLN | c.942C>T (p.Asp314=) c.780C>T (p.Asp260=) c.*118C>T (n.*118C>T) c.189C>T (p.Asp63=) | |
| 5 | g.69534745T>A | CA360066559 | OCLN | c.943T>A (p.Tyr315Asn) c.781T>A (p.Tyr261Asn) c.*119T>A (n.*119T>A) c.190T>A (p.Tyr64Asn) | |
| 5 | g.69534745T>C | CA360066561 | OCLN | c.943T>C (p.Tyr315His) c.781T>C (p.Tyr261His) c.*119T>C (n.*119T>C) c.190T>C (p.Tyr64His) | dbSNP |
| 5 | g.69534745T>G | CA360066563 | OCLN | c.943T>G (p.Tyr315Asp) c.781T>G (p.Tyr261Asp) c.*119T>G (n.*119T>G) c.190T>G (p.Tyr64Asp) | |
| 5 | g.69534745T= | CA1553964485 | OCLN | c.943T= (p.Tyr315=) c.781T= (p.Tyr261=) c.*119T= (n.*119T=) c.190T= (p.Tyr64=) | |
| 5 | g.69534746_69534747del | CA2674136488 | OCLN | c.944_945del (p.Tyr315CysfsTer5) c.782_783del (p.Tyr261CysfsTer5) c.*120_*121del (n.*120_*121del) c.191_192del (p.Tyr64CysfsTer5) | gnomAD v4 |
| 5 | g.69534746A= | CA1553964486 | OCLN | c.944A= (p.Tyr315=) c.782A= (p.Tyr261=) c.*120A= (n.*120A=) c.191A= (p.Tyr64=) | |
| 5 | g.69534746A>C | CA360066565 | OCLN | c.944A>C (p.Tyr315Ser) c.782A>C (p.Tyr261Ser) c.*120A>C (n.*120A>C) c.191A>C (p.Tyr64Ser) | dbSNP |
| 5 | g.69534746A>G | CA360066568 | OCLN | c.944A>G (p.Tyr315Cys) c.782A>G (p.Tyr261Cys) c.*120A>G (n.*120A>G) c.191A>G (p.Tyr64Cys) | gnomAD v4 |
| 5 | g.69534746A>T | CA360066567 | OCLN | c.944A>T (p.Tyr315Phe) c.782A>T (p.Tyr261Phe) c.*120A>T (n.*120A>T) c.191A>T (p.Tyr64Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69534747T>A | CA360066571 | OCLN | c.945T>A (p.Tyr315Ter) c.783T>A (p.Tyr261Ter) c.*121T>A (n.*121T>A) c.192T>A (p.Tyr64Ter) | |
| 5 | g.69534747T>C | CA3294550 | OCLN | c.945T>C (p.Tyr315=) c.783T>C (p.Tyr261=) c.*121T>C (n.*121T>C) c.192T>C (p.Tyr64=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69534747T>G | CA360066574 | OCLN | c.945T>G (p.Tyr315Ter) c.783T>G (p.Tyr261Ter) c.*121T>G (n.*121T>G) c.192T>G (p.Tyr64Ter) | |
| 5 | g.69534747T= | CA1553964487 | OCLN | c.945T= (p.Tyr315=) c.783T= (p.Tyr261=) c.*121T= (n.*121T=) c.192T= (p.Tyr64=) | |
| 5 | g.69534748G>A | CA360066577 | OCLN | c.946G>A (p.Val316Met) c.784G>A (p.Val262Met) c.*122G>A (n.*122G>A) c.193G>A (p.Val65Met) | gnomAD v4 |
| 5 | g.69534748G>C | CA360066579 | OCLN | c.946G>C (p.Val316Leu) c.784G>C (p.Val262Leu) c.*122G>C (n.*122G>C) c.193G>C (p.Val65Leu) | |
| 5 | g.69534748G>T | CA360066581 | OCLN | c.946G>T (p.Val316Leu) c.784G>T (p.Val262Leu) c.*122G>T (n.*122G>T) c.193G>T (p.Val65Leu) | |
| 5 | g.69534749T>A | CA360066584 | OCLN | c.947T>A (p.Val316Glu) c.785T>A (p.Val262Glu) c.*123T>A (n.*123T>A) c.194T>A (p.Val65Glu) | |
| 5 | g.69534749T>C | CA360066586 | OCLN | c.947T>C (p.Val316Ala) c.785T>C (p.Val262Ala) c.*123T>C (n.*123T>C) c.194T>C (p.Val65Ala) | |
| 5 | g.69534749T>G | CA360066587 | OCLN | c.947T>G (p.Val316Gly) c.785T>G (p.Val262Gly) c.*123T>G (n.*123T>G) c.194T>G (p.Val65Gly) | |
| 5 | g.69534750G>A | CA444855093 | OCLN | c.948G>A (p.Val316=) c.786G>A (p.Val262=) c.*124G>A (n.*124G>A) c.195G>A (p.Val65=) | |
| 5 | g.69534750G>C | CA444855096 | OCLN | c.948G>C (p.Val316=) c.786G>C (p.Val262=) c.*124G>C (n.*124G>C) c.195G>C (p.Val65=) | |
| 5 | g.69534750G>T | CA444855094 | OCLN | c.948G>T (p.Val316=) c.786G>T (p.Val262=) c.*124G>T (n.*124G>T) c.195G>T (p.Val65=) | |
| 5 | g.69534751G>A | CA3294551 | OCLN | c.949G>A (p.Glu317Lys) c.787G>A (p.Glu263Lys) c.*125G>A (n.*125G>A) c.196G>A (p.Glu66Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69534751G>C | CA360066590 | OCLN | c.949G>C (p.Glu317Gln) c.787G>C (p.Glu263Gln) c.*125G>C (n.*125G>C) c.196G>C (p.Glu66Gln) | |
| 5 | g.69534751G= | CA1553964488 | OCLN | c.949G= (p.Glu317=) c.787G= (p.Glu263=) c.*125G= (n.*125G=) c.196G= (p.Glu66=) | |
| 5 | g.69534751G>T | CA360066592 | OCLN | c.949G>T (p.Glu317Ter) c.787G>T (p.Glu263Ter) c.*125G>T (n.*125G>T) c.196G>T (p.Glu66Ter) | |
| 5 | g.69534752A>C | CA360066599 | OCLN | c.950A>C (p.Glu317Ala) c.788A>C (p.Glu263Ala) c.*126A>C (n.*126A>C) c.197A>C (p.Glu66Ala) | |
| 5 | g.69534752A>G | CA360066595 | OCLN | c.950A>G (p.Glu317Gly) c.788A>G (p.Glu263Gly) c.*126A>G (n.*126A>G) c.197A>G (p.Glu66Gly) | |
| 5 | g.69534752A>T | CA360066597 | OCLN | c.950A>T (p.Glu317Val) c.788A>T (p.Glu263Val) c.*126A>T (n.*126A>T) c.197A>T (p.Glu66Val) | |
| 5 | g.69534753A>C | CA360066601 | OCLN | c.951A>C (p.Glu317Asp) c.789A>C (p.Glu263Asp) c.*127A>C (n.*127A>C) c.198A>C (p.Glu66Asp) | |
| 5 | g.69534753A>G | CA444855106 | OCLN | c.951A>G (p.Glu317=) c.789A>G (p.Glu263=) c.*127A>G (n.*127A>G) c.198A>G (p.Glu66=) | gnomAD v4 |
| 5 | g.69534753A>T | CA360066603 | OCLN | c.951A>T (p.Glu317Asp) c.789A>T (p.Glu263Asp) c.*127A>T (n.*127A>T) c.198A>T (p.Glu66Asp) | |
| 5 | g.69534754A= | CA1553964489 | OCLN | c.952A= (p.Arg318=) c.790A= (p.Arg264=) c.*128A= (n.*128A=) c.199A= (p.Arg67=) | |
| 5 | g.69534754A>C | CA444855109 | OCLN | c.952A>C (p.Arg318=) c.790A>C (p.Arg264=) c.*128A>C (n.*128A>C) c.199A>C (p.Arg67=) | |
| 5 | g.69534754A>G | CA3294552 | OCLN | c.952A>G (p.Arg318Gly) c.790A>G (p.Arg264Gly) c.*128A>G (n.*128A>G) c.199A>G (p.Arg67Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69534754A>T | CA360066606 | OCLN | c.952A>T (p.Arg318Ter) c.790A>T (p.Arg264Ter) c.*128A>T (n.*128A>T) c.199A>T (p.Arg67Ter) | |
| 5 | g.69534755G>A | CA3294553 | OCLN | c.953G>A (p.Arg318Lys) c.791G>A (p.Arg264Lys) c.*129G>A (n.*129G>A) c.200G>A (p.Arg67Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69534755G>C | CA360066610 | OCLN | c.953G>C (p.Arg318Thr) c.791G>C (p.Arg264Thr) c.*129G>C (n.*129G>C) c.200G>C (p.Arg67Thr) | |
| 5 | g.69534755G= | CA1553964490 | OCLN | c.953G= (p.Arg318=) c.791G= (p.Arg264=) c.*129G= (n.*129G=) c.200G= (p.Arg67=) | |
| 5 | g.69534755G>T | CA360066612 | OCLN | c.953G>T (p.Arg318Ile) c.791G>T (p.Arg264Ile) c.*129G>T (n.*129G>T) c.200G>T (p.Arg67Ile) | |
| 5 | g.69534756A>C | CA360066614 | OCLN | c.954A>C (p.Arg318Ser) c.792A>C (p.Arg264Ser) c.*130A>C (n.*130A>C) c.201A>C (p.Arg67Ser) | |
| 5 | g.69534756A>G | CA444855118 | OCLN | c.954A>G (p.Arg318=) c.792A>G (p.Arg264=) c.*130A>G (n.*130A>G) c.201A>G (p.Arg67=) | |
| 5 | g.69534756A>T | CA360066616 | OCLN | c.954A>T (p.Arg318Ser) c.792A>T (p.Arg264Ser) c.*130A>T (n.*130A>T) c.201A>T (p.Arg67Ser) | |
| 5 | g.69534757G>A | CA360066618 | OCLN | c.955G>A (p.Val319Ile) c.793G>A (p.Val265Ile) c.*131G>A (n.*131G>A) c.202G>A (p.Val68Ile) | |
| 5 | g.69534757G>C | CA360066620 | OCLN | c.955G>C (p.Val319Leu) c.793G>C (p.Val265Leu) c.*131G>C (n.*131G>C) c.202G>C (p.Val68Leu) | gnomAD v4 |
| 5 | g.69534757G>T | CA360066622 | OCLN | c.955G>T (p.Val319Phe) c.793G>T (p.Val265Phe) c.*131G>T (n.*131G>T) c.202G>T (p.Val68Phe) |