Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.26480982del | CA345092 | OTOF | c.1609del (p.Val537Ter) c.1654del (p.Val552Ter) | ClinVar dbSNP |
2 | g.26480982C>A | CA346133759 | OTOF | c.1607G>T (p.Trp536Leu) c.1652G>T (p.Trp551Leu) | gnomAD v3 gnomAD v4 |
2 | g.26480982C= | CA1239827914 | OTOF | c.1607G= (p.Trp536=) c.1652G= (p.Trp551=) | |
2 | g.26480982C>G | CA1564213 | OTOF | c.1607G>C (p.Trp536Ser) c.1652G>C (p.Trp551Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26480982C>T | CA345090 | OTOF | c.1607G>A (p.Trp536Ter) c.1652G>A (p.Trp551Ter) | ClinVar dbSNP gnomAD v4 |
2 | g.26480983A>C | CA346133783 | OTOF | c.1606T>G (p.Trp536Gly) c.1651T>G (p.Trp551Gly) | |
2 | g.26480983A>G | CA346133787 | OTOF | c.1606T>C (p.Trp536Arg) c.1651T>C (p.Trp551Arg) | gnomAD v4 |
2 | g.26480983A>T | CA346133790 | OTOF | c.1606T>A (p.Trp536Arg) c.1651T>A (p.Trp551Arg) | |
2 | g.26480984G>A | CA425206170 | OTOF | c.1605C>T (p.Ala535=) c.1650C>T (p.Ala550=) | |
2 | g.26480984G>C | CA425206171 | OTOF | c.1605C>G (p.Ala535=) c.1650C>G (p.Ala550=) | dbSNP gnomAD v4 |
2 | g.26480984G= | CA1239827916 | OTOF | c.1605C= (p.Ala535=) c.1650C= (p.Ala550=) | |
2 | g.26480984G>T | CA425206172 | OTOF | c.1605C>A (p.Ala535=) c.1650C>A (p.Ala550=) | |
2 | g.26480985G>A | CA346133796 | OTOF | c.1604C>T (p.Ala535Val) c.1649C>T (p.Ala550Val) | gnomAD v4 |
2 | g.26480985G>C | CA346133799 | OTOF | c.1604C>G (p.Ala535Gly) c.1649C>G (p.Ala550Gly) | |
2 | g.26480985G>T | CA346133793 | OTOF | c.1604C>A (p.Ala535Asp) c.1649C>A (p.Ala550Asp) | |
2 | g.26480986C>A | CA346133801 | OTOF | c.1603G>T (p.Ala535Ser) c.1648G>T (p.Ala550Ser) | |
2 | g.26480986C>G | CA346133800 | OTOF | c.1603G>C (p.Ala535Pro) c.1648G>C (p.Ala550Pro) | |
2 | g.26480986C>T | CA346133803 | OTOF | c.1603G>A (p.Ala535Thr) c.1648G>A (p.Ala550Thr) | |
2 | g.26480987T>A | CA425206179 | OTOF | c.1602A>T (p.Pro534=) c.1647A>T (p.Pro549=) | |
2 | g.26480987T>C | CA425206180 | OTOF | c.1602A>G (p.Pro534=) c.1647A>G (p.Pro549=) | |
2 | g.26480987T>G | CA425206181 | OTOF | c.1602A>C (p.Pro534=) c.1647A>C (p.Pro549=) | |
2 | g.26480987_26480988delinsTG | CA1239827918 | OTOF | c.1601_1602delinsCA (p.Pro534=) c.1646_1647delinsCA (p.Pro549=) | |
2 | g.26480988G>A | CA346133808 | OTOF | c.1601C>T (p.Pro534Leu) c.1646C>T (p.Pro549Leu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26480988G>C | CA346133812 | OTOF | c.1601C>G (p.Pro534Arg) c.1646C>G (p.Pro549Arg) | gnomAD v4 |
2 | g.26480988G= | CA1239827920 | OTOF | c.1601C= (p.Pro534=) c.1646C= (p.Pro549=) | |
2 | g.26480988G>T | CA346133815 | OTOF | c.1601C>A (p.Pro534Gln) c.1646C>A (p.Pro549Gln) | |
2 | g.26480990del | CA345089 | OTOF | c.1601del (p.Pro534GlnfsTer4) c.1646del (p.Pro549GlnfsTer4) | ClinVar dbSNP gnomAD v4 |
2 | g.26480989G>A | CA346133819 | OTOF | c.1600C>T (p.Pro534Ser) c.1645C>T (p.Pro549Ser) | gnomAD v4 |
2 | g.26480989G>C | CA346133821 | OTOF | c.1600C>G (p.Pro534Ala) c.1645C>G (p.Pro549Ala) | |
2 | g.26480989G>T | CA346133823 | OTOF | c.1600C>A (p.Pro534Thr) c.1645C>A (p.Pro549Thr) | |
2 | g.26480990G>A | CA44401064 | OTOF | c.1599C>T (p.Gly533=) c.1644C>T (p.Gly548=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.26480990G>C | CA425206188 | OTOF | c.1599C>G (p.Gly533=) c.1644C>G (p.Gly548=) | |
2 | g.26480990G= | CA1239827922 | OTOF | c.1599C= (p.Gly533=) c.1644C= (p.Gly548=) | |
2 | g.26480990G>T | CA425206189 | OTOF | c.1599C>A (p.Gly533=) c.1644C>A (p.Gly548=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26480991C>A | CA346133828 | OTOF | c.1598G>T (p.Gly533Val) c.1643G>T (p.Gly548Val) | |
2 | g.26480991C= | CA1239827924 | OTOF | c.1598G= (p.Gly533=) c.1643G= (p.Gly548=) | |
2 | g.26480991C>G | CA346133830 | OTOF | c.1598G>C (p.Gly533Ala) c.1643G>C (p.Gly548Ala) | |
2 | g.26480991C>T | CA346133832 | OTOF | c.1598G>A (p.Gly533Asp) c.1643G>A (p.Gly548Asp) | dbSNP COSMIC |
2 | g.26480992C>A | CA346133835 | OTOF | c.1597G>T (p.Gly533Cys) c.1642G>T (p.Gly548Cys) | |
2 | g.26480992C>G | CA346133837 | OTOF | c.1597G>C (p.Gly533Arg) c.1642G>C (p.Gly548Arg) | |
2 | g.26480992C>T | CA346133839 | OTOF | c.1597G>A (p.Gly533Ser) c.1642G>A (p.Gly548Ser) | |
2 | g.26480993C>A | CA425206196 | OTOF | c.1596G>T (p.Leu532=) c.1641G>T (p.Leu547=) | |
2 | g.26480993C>G | CA425206195 | OTOF | c.1596G>C (p.Leu532=) c.1641G>C (p.Leu547=) | |
2 | g.26480993C>T | CA425206194 | OTOF | c.1596G>A (p.Leu532=) c.1641G>A (p.Leu547=) | gnomAD v4 |
2 | g.26480994A>C | CA346133846 | OTOF | c.1595T>G (p.Leu532Arg) c.1640T>G (p.Leu547Arg) | |
2 | g.26480994A>G | CA346133842 | OTOF | c.1595T>C (p.Leu532Pro) c.1640T>C (p.Leu547Pro) | |
2 | g.26480994A>T | CA346133843 | OTOF | c.1595T>A (p.Leu532Gln) c.1640T>A (p.Leu547Gln) | |
2 | g.26480994_26480996delinsAGT | CA1239827925 | OTOF | c.1593_1595delinsACT (p.Thr531=) c.1638_1640delinsACT (p.Thr546=) | |
2 | g.26480995G>A | CA44401067 | OTOF | c.1594C>T (p.Leu532=) c.1639C>T (p.Leu547=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.26480995G>C | CA346133850 | OTOF | c.1594C>G (p.Leu532Val) c.1639C>G (p.Leu547Val) |