Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.26480879_26480894dup | CA2658238262 | OTOF | c.1696_1711dup (p.Leu571ProfsTer19) c.1741_1756dup (p.Leu586ProfsTer19) | gnomAD v4 |
2 | g.26480889_26480890delinsGC | CA1239827795 | OTOF | c.1699_1700delinsGC (p.Ala567=) c.1744_1745delinsGC (p.Ala582=) | |
2 | g.26480890C>A | CA346133251 | OTOF | c.1699G>T (p.Ala567Ser) c.1744G>T (p.Ala582Ser) | |
2 | g.26480890C= | CA1239827799 | OTOF | c.1699G= (p.Ala567=) c.1744G= (p.Ala582=) | |
2 | g.26480890C>G | CA346133252 | OTOF | c.1699G>C (p.Ala567Pro) c.1744G>C (p.Ala582Pro) | |
2 | g.26480890C>T | CA1564196 | OTOF | c.1699G>A (p.Ala567Thr) c.1744G>A (p.Ala582Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26480892del | CA531762003 | OTOF | c.1699del (p.Ala567ProfsTer12) c.1744del (p.Ala582ProfsTer12) | dbSNP gnomAD v2 |
2 | g.26480891C>A | CA425206008 | OTOF | c.1698G>T (p.Arg566=) c.1743G>T (p.Arg581=) | |
2 | g.26480891C= | CA1239827801 | OTOF | c.1698G= (p.Arg566=) c.1743G= (p.Arg581=) | |
2 | g.26480891C>G | CA425206007 | OTOF | c.1698G>C (p.Arg566=) c.1743G>C (p.Arg581=) | COSMIC |
2 | g.26480891C>T | CA425206006 | OTOF | c.1698G>A (p.Arg566=) c.1743G>A (p.Arg581=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.26480892C>A | CA346133257 | OTOF | c.1697G>T (p.Arg566Leu) c.1742G>T (p.Arg581Leu) | |
2 | g.26480892C= | CA1239827802 | OTOF | c.1697G= (p.Arg566=) c.1742G= (p.Arg581=) | |
2 | g.26480892C>G | CA346133259 | OTOF | c.1697G>C (p.Arg566Pro) c.1742G>C (p.Arg581Pro) | ClinVar |
2 | g.26480892C>T | CA1564197 | OTOF | c.1697G>A (p.Arg566Gln) c.1742G>A (p.Arg581Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26480893G>A | CA1564198 | OTOF | c.1696C>T (p.Arg566Trp) c.1741C>T (p.Arg581Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26480893G>C | CA346133270 | OTOF | c.1696C>G (p.Arg566Gly) c.1741C>G (p.Arg581Gly) | |
2 | g.26480893G= | CA1239827805 | OTOF | c.1696C= (p.Arg566=) c.1741C= (p.Arg581=) | |
2 | g.26480893G>T | CA425206010 | OTOF | c.1696C>A (p.Arg566=) c.1741C>A (p.Arg581=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26480894dup | CA2658238271 | OTOF | c.1696dup (p.Arg566ProfsTer19) c.1741dup (p.Arg581ProfsTer19) | gnomAD v4 |
2 | g.26480894G>A | CA425206011 | OTOF | c.1695C>T (p.Phe565=) c.1740C>T (p.Phe580=) | |
2 | g.26480894G>C | CA346133272 | OTOF | c.1695C>G (p.Phe565Leu) c.1740C>G (p.Phe580Leu) | |
2 | g.26480894G>T | CA346133274 | OTOF | c.1695C>A (p.Phe565Leu) c.1740C>A (p.Phe580Leu) | |
2 | g.26480895A= | CA1239827806 | OTOF | c.1694T= (p.Phe565=) c.1739T= (p.Phe580=) | |
2 | g.26480895A>C | CA346133282 | OTOF | c.1694T>G (p.Phe565Cys) c.1739T>G (p.Phe580Cys) | |
2 | g.26480895A>G | CA346133280 | OTOF | c.1694T>C (p.Phe565Ser) c.1739T>C (p.Phe580Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.26480895A>T | CA346133277 | OTOF | c.1694T>A (p.Phe565Tyr) c.1739T>A (p.Phe580Tyr) | |
2 | g.26480896A>C | CA346133286 | OTOF | c.1693T>G (p.Phe565Val) c.1738T>G (p.Phe580Val) | |
2 | g.26480896A>G | CA346133288 | OTOF | c.1693T>C (p.Phe565Leu) c.1738T>C (p.Phe580Leu) | |
2 | g.26480896A>T | CA346133290 | OTOF | c.1693T>A (p.Phe565Ile) c.1738T>A (p.Phe580Ile) | |
2 | g.26480897G>A | CA425206013 | OTOF | c.1692C>T (p.Ser564=) c.1737C>T (p.Ser579=) | gnomAD v4 COSMIC |
2 | g.26480897G>C | CA425206015 | OTOF | c.1692C>G (p.Ser564=) c.1737C>G (p.Ser579=) | |
2 | g.26480897G>T | CA425206016 | OTOF | c.1692C>A (p.Ser564=) c.1737C>A (p.Ser579=) | |
2 | g.26480898G>A | CA346133293 | OTOF | c.1691C>T (p.Ser564Phe) c.1736C>T (p.Ser579Phe) | gnomAD v4 |
2 | g.26480898G>C | CA346133295 | OTOF | c.1691C>G (p.Ser564Cys) c.1736C>G (p.Ser579Cys) | |
2 | g.26480898G>T | CA346133297 | OTOF | c.1691C>A (p.Ser564Tyr) c.1736C>A (p.Ser579Tyr) | |
2 | g.26480899A>C | CA346133300 | OTOF | c.1690T>G (p.Ser564Ala) c.1735T>G (p.Ser579Ala) | |
2 | g.26480899A>G | CA346133305 | OTOF | c.1690T>C (p.Ser564Pro) c.1735T>C (p.Ser579Pro) | |
2 | g.26480899A>T | CA346133302 | OTOF | c.1690T>A (p.Ser564Thr) c.1735T>A (p.Ser579Thr) | |
2 | g.26480900C>A | CA425206020 | OTOF | c.1689G>T (p.Val563=) c.1734G>T (p.Val578=) | |
2 | g.26480900C>G | CA425206021 | OTOF | c.1689G>C (p.Val563=) c.1734G>C (p.Val578=) | |
2 | g.26480900C>T | CA425206022 | OTOF | c.1689G>A (p.Val563=) c.1734G>A (p.Val578=) | ClinVar gnomAD v4 |
2 | g.26480901A>C | CA346133308 | OTOF | c.1688T>G (p.Val563Gly) c.1733T>G (p.Val578Gly) | |
2 | g.26480901A>G | CA346133310 | OTOF | c.1688T>C (p.Val563Ala) c.1733T>C (p.Val578Ala) | |
2 | g.26480901A>T | CA346133312 | OTOF | c.1688T>A (p.Val563Glu) c.1733T>A (p.Val578Glu) | |
2 | g.26480902C>A | CA346133315 | OTOF | c.1687G>T (p.Val563Leu) c.1732G>T (p.Val578Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26480902C= | CA1239827808 | OTOF | c.1687G= (p.Val563=) c.1732G= (p.Val578=) | |
2 | g.26480902C>G | CA346133318 | OTOF | c.1687G>C (p.Val563Leu) c.1732G>C (p.Val578Leu) | |
2 | g.26480902C>T | CA346133320 | OTOF | c.1687G>A (p.Val563Met) c.1732G>A (p.Val578Met) | |
2 | g.26480903A>C | CA425206026 | OTOF | c.1686T>G (p.Gly562=) c.1731T>G (p.Gly577=) |