| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.26480274C>A | CA346132081 | OTOF | c.1841G>T (p.Gly614Val) c.1886G>T (p.Gly629Val) | |
| 2 | g.26480274C= | CA1239827211 | OTOF | c.1841G= (p.Gly614=) c.1886G= (p.Gly629=) | |
| 2 | g.26480274C>G | CA346132083 | OTOF | c.1841G>C (p.Gly614Ala) c.1886G>C (p.Gly629Ala) | |
| 2 | g.26480274C>T | CA345098 | OTOF | c.1841G>A (p.Gly614Glu) c.1886G>A (p.Gly629Glu) | ClinVar dbSNP |
| 2 | g.26480275C>A | CA346132090 | OTOF | c.1840G>T (p.Gly614Ter) c.1885G>T (p.Gly629Ter) | |
| 2 | g.26480275C>G | CA346132094 | OTOF | c.1840G>C (p.Gly614Arg) c.1885G>C (p.Gly629Arg) | |
| 2 | g.26480275C>T | CA346132093 | OTOF | c.1840G>A (p.Gly614Arg) c.1885G>A (p.Gly629Arg) | |
| 2 | g.26480276A>C | CA346132100 | OTOF | c.1839T>G (p.Phe613Leu) c.1884T>G (p.Phe628Leu) | |
| 2 | g.26480276A>G | CA425205557 | OTOF | c.1839T>C (p.Phe613=) c.1884T>C (p.Phe628=) | |
| 2 | g.26480276A>T | CA346132105 | OTOF | c.1839T>A (p.Phe613Leu) c.1884T>A (p.Phe628Leu) | |
| 2 | g.26480277A>C | CA346132111 | OTOF | c.1838T>G (p.Phe613Cys) c.1883T>G (p.Phe628Cys) | gnomAD v4 |
| 2 | g.26480277A>G | CA346132114 | OTOF | c.1838T>C (p.Phe613Ser) c.1883T>C (p.Phe628Ser) | |
| 2 | g.26480277A>T | CA346132125 | OTOF | c.1838T>A (p.Phe613Tyr) c.1883T>A (p.Phe628Tyr) | |
| 2 | g.26480278A>C | CA346132130 | OTOF | c.1837T>G (p.Phe613Val) c.1882T>G (p.Phe628Val) | |
| 2 | g.26480278A>G | CA346132133 | OTOF | c.1837T>C (p.Phe613Leu) c.1882T>C (p.Phe628Leu) | |
| 2 | g.26480278A>T | CA346132137 | OTOF | c.1837T>A (p.Phe613Ile) c.1882T>A (p.Phe628Ile) | |
| 2 | g.26480279G>A | CA425205558 | OTOF | c.1836C>T (p.Leu612=) c.1881C>T (p.Leu627=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.26480279G>C | CA425205559 | OTOF | c.1836C>G (p.Leu612=) c.1881C>G (p.Leu627=) | dbSNP |
| 2 | g.26480279G= | CA1239827214 | OTOF | c.1836C= (p.Leu612=) c.1881C= (p.Leu627=) | |
| 2 | g.26480279G>T | CA425205560 | OTOF | c.1836C>A (p.Leu612=) c.1881C>A (p.Leu627=) | |
| 2 | g.26480280A= | CA1239827216 | OTOF | c.1835T= (p.Leu612=) c.1880T= (p.Leu627=) | |
| 2 | g.26480280A>C | CA346132140 | OTOF | c.1835T>G (p.Leu612Arg) c.1880T>G (p.Leu627Arg) | |
| 2 | g.26480280A>G | CA346132143 | OTOF | c.1835T>C (p.Leu612Pro) c.1880T>C (p.Leu627Pro) | dbSNP gnomAD v2 |
| 2 | g.26480280A>T | CA346132146 | OTOF | c.1835T>A (p.Leu612His) c.1880T>A (p.Leu627His) | |
| 2 | g.26480281G>A | CA346132157 | OTOF | c.1834C>T (p.Leu612Phe) c.1879C>T (p.Leu627Phe) | COSMIC |
| 2 | g.26480281G>C | CA346132154 | OTOF | c.1834C>G (p.Leu612Val) c.1879C>G (p.Leu627Val) | gnomAD v4 |
| 2 | g.26480281G>T | CA346132152 | OTOF | c.1834C>A (p.Leu612Ile) c.1879C>A (p.Leu627Ile) | gnomAD v4 |
| 2 | g.26480282A>C | CA346132162 | OTOF | c.1833T>G (p.Phe611Leu) c.1878T>G (p.Phe626Leu) | |
| 2 | g.26480282A>G | CA425205561 | OTOF | c.1833T>C (p.Phe611=) c.1878T>C (p.Phe626=) | |
| 2 | g.26480282A>T | CA346132164 | OTOF | c.1833T>A (p.Phe611Leu) c.1878T>A (p.Phe626Leu) | |
| 2 | g.26480283A= | CA1239827218 | OTOF | c.1832T= (p.Phe611=) c.1877T= (p.Phe626=) | |
| 2 | g.26480283A>C | CA346132173 | OTOF | c.1832T>G (p.Phe611Cys) c.1877T>G (p.Phe626Cys) | |
| 2 | g.26480283A>G | CA346132176 | OTOF | c.1832T>C (p.Phe611Ser) c.1877T>C (p.Phe626Ser) | |
| 2 | g.26480283A>T | CA1564162 | OTOF | c.1832T>A (p.Phe611Tyr) c.1877T>A (p.Phe626Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26480284A>C | CA346132184 | OTOF | c.1831T>G (p.Phe611Val) c.1876T>G (p.Phe626Val) | |
| 2 | g.26480284A>G | CA346132187 | OTOF | c.1831T>C (p.Phe611Leu) c.1876T>C (p.Phe626Leu) | |
| 2 | g.26480284A>T | CA346132192 | OTOF | c.1831T>A (p.Phe611Ile) c.1876T>A (p.Phe626Ile) | |
| 2 | g.26480285G>A | CA425205562 | OTOF | c.1830C>T (p.Phe610=) c.1875C>T (p.Phe625=) | |
| 2 | g.26480285G>C | CA346132195 | OTOF | c.1830C>G (p.Phe610Leu) c.1875C>G (p.Phe625Leu) | |
| 2 | g.26480285G>T | CA346132198 | OTOF | c.1830C>A (p.Phe610Leu) c.1875C>A (p.Phe625Leu) | gnomAD v4 COSMIC |
| 2 | g.26480286A= | CA1239827221 | OTOF | c.1829T= (p.Phe610=) c.1874T= (p.Phe625=) | |
| 2 | g.26480286A>C | CA346132203 | OTOF | c.1829T>G (p.Phe610Cys) c.1874T>G (p.Phe625Cys) | |
| 2 | g.26480286A>G | CA346132206 | OTOF | c.1829T>C (p.Phe610Ser) c.1874T>C (p.Phe625Ser) | |
| 2 | g.26480286A>T | CA346132210 | OTOF | c.1829T>A (p.Phe610Tyr) c.1874T>A (p.Phe625Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26480287del | CA2586968844 | OTOF | c.1829del (p.Phe610SerfsTer12) c.1874del (p.Phe625SerfsTer12) | |
| 2 | g.26480287A>C | CA346132216 | OTOF | c.1828T>G (p.Phe610Val) c.1873T>G (p.Phe625Val) | |
| 2 | g.26480287A>G | CA346132217 | OTOF | c.1828T>C (p.Phe610Leu) c.1873T>C (p.Phe625Leu) | gnomAD v4 |
| 2 | g.26480287A>T | CA346132213 | OTOF | c.1828T>A (p.Phe610Ile) c.1873T>A (p.Phe625Ile) | |
| 2 | g.26480288T>A | CA346132223 | OTOF | c.1827A>T (p.Glu609Asp) c.1872A>T (p.Glu624Asp) | |
| 2 | g.26480288T>C | CA425205563 | OTOF | c.1827A>G (p.Glu609=) c.1872A>G (p.Glu624=) |