Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | |
2 | g.26480288T>G | CA346132219 | OTOF | c.1827A>C (p.Glu609Asp) c.1872A>C (p.Glu624Asp) | COSMIC |
2 | g.26480289T>A | CA346132227 | OTOF | c.1826A>T (p.Glu609Val) c.1871A>T (p.Glu624Val) | |
2 | g.26480289T>C | CA346132228 | OTOF | c.1826A>G (p.Glu609Gly) c.1871A>G (p.Glu624Gly) | |
2 | g.26480289T>G | CA346132229 | OTOF | c.1826A>C (p.Glu609Ala) c.1871A>C (p.Glu624Ala) | dbSNP gnomAD v4 |
2 | g.26480290C>A | CA346132231 | OTOF | c.1825G>T (p.Glu609Ter) c.1870G>T (p.Glu624Ter) | |
2 | g.26480290C>G | CA346132232 | OTOF | c.1825G>C (p.Glu609Gln) c.1870G>C (p.Glu624Gln) | |
2 | g.26480290C>T | CA346132233 | OTOF | c.1825G>A (p.Glu609Lys) c.1870G>A (p.Glu624Lys) | gnomAD v4 |
2 | g.26480291T>A | CA346132240 | OTOF | c.1824A>T (p.Glu608Asp) c.1869A>T (p.Glu623Asp) | |
2 | g.26480291T>C | CA425205564 | OTOF | c.1824A>G (p.Glu608=) c.1869A>G (p.Glu623=) | |
2 | g.26480291T>G | CA346132239 | OTOF | c.1824A>C (p.Glu608Asp) c.1869A>C (p.Glu623Asp) | |
2 | g.26480292T>A | CA346132242 | OTOF | c.1823A>T (p.Glu608Val) c.1868A>T (p.Glu623Val) | |
2 | g.26480292T>C | CA346132245 | OTOF | c.1823A>G (p.Glu608Gly) c.1868A>G (p.Glu623Gly) | gnomAD v4 |
2 | g.26480292T>G | CA346132248 | OTOF | c.1823A>C (p.Glu608Ala) c.1868A>C (p.Glu623Ala) | |
2 | g.26480293C>A | CA346132253 | OTOF | c.1822G>T (p.Glu608Ter) c.1867G>T (p.Glu623Ter) | |
2 | g.26480293C= | CA1239827224 | OTOF | c.1822G= (p.Glu608=) c.1867G= (p.Glu623=) | |
2 | g.26480293C>G | CA346132255 | OTOF | c.1822G>C (p.Glu608Gln) c.1867G>C (p.Glu623Gln) | |
2 | g.26480293C>T | CA346132260 | OTOF | c.1822G>A (p.Glu608Lys) c.1867G>A (p.Glu623Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.26480294C>A | CA346132265 | OTOF | c.1821G>T (p.Met607Ile) c.1866G>T (p.Met622Ile) | |
2 | g.26480294C>G | CA346132271 | OTOF | c.1821G>C (p.Met607Ile) c.1866G>C (p.Met622Ile) | |
2 | g.26480294C>T | CA346132268 | OTOF | c.1821G>A (p.Met607Ile) c.1866G>A (p.Met622Ile) | |
2 | g.26480295A= | CA1239827225 | OTOF | c.1820T= (p.Met607=) c.1865T= (p.Met622=) | |
2 | g.26480295A>C | CA346132274 | OTOF | c.1820T>G (p.Met607Arg) c.1865T>G (p.Met622Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26480295A>G | CA346132275 | OTOF | c.1820T>C (p.Met607Thr) c.1865T>C (p.Met622Thr) | COSMIC |
2 | g.26480295A>T | CA346132276 | OTOF | c.1820T>A (p.Met607Lys) c.1865T>A (p.Met622Lys) | |
2 | g.26480296T>A | CA346132278 | OTOF | c.1819A>T (p.Met607Leu) c.1864A>T (p.Met622Leu) | |
2 | g.26480296T>C | CA346132280 | OTOF | c.1819A>G (p.Met607Val) c.1864A>G (p.Met622Val) | gnomAD v4 |
2 | g.26480296T>G | CA346132281 | OTOF | c.1819A>C (p.Met607Leu) c.1864A>C (p.Met622Leu) | |
2 | g.26480297T>A | CA346132283 | OTOF | c.1818A>T (p.Lys606Asn) c.1863A>T (p.Lys621Asn) | |
2 | g.26480297T>C | CA425205565 | OTOF | c.1818A>G (p.Lys606=) c.1863A>G (p.Lys621=) | |
2 | g.26480297T>G | CA346132284 | OTOF | c.1818A>C (p.Lys606Asn) c.1863A>C (p.Lys621Asn) | |
2 | g.26480298T>A | CA346132287 | OTOF | c.1817A>T (p.Lys606Ile) c.1862A>T (p.Lys621Ile) | |
2 | g.26480298T>C | CA346132289 | OTOF | c.1817A>G (p.Lys606Arg) c.1862A>G (p.Lys621Arg) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26480298T>G | CA346132290 | OTOF | c.1817A>C (p.Lys606Thr) c.1862A>C (p.Lys621Thr) | |
2 | g.26480298T= | CA1239827228 | OTOF | c.1817A= (p.Lys606=) c.1862A= (p.Lys621=) |