| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.26467375T>A | CA346137197 | OTOF | c.4217A>T (p.Asp1406Val) c.1916A>T (p.Asp639Val) c.1976A>T (p.Asp659Val) c.2147A>T (p.Asp716Val) c.4202A>T (p.Asp1401Val) c.4262A>T (p.Asp1421Val) c.4157A>T (p.Asp1386Val) | |
| 2 | g.26467375T>C | CA346137196 | OTOF | c.4217A>G (p.Asp1406Gly) c.1916A>G (p.Asp639Gly) c.1976A>G (p.Asp659Gly) c.2147A>G (p.Asp716Gly) c.4202A>G (p.Asp1401Gly) c.4262A>G (p.Asp1421Gly) c.4157A>G (p.Asp1386Gly) | |
| 2 | g.26467375T>G | CA346137195 | OTOF | c.4217A>C (p.Asp1406Ala) c.1916A>C (p.Asp639Ala) c.1976A>C (p.Asp659Ala) c.2147A>C (p.Asp716Ala) c.4202A>C (p.Asp1401Ala) c.4262A>C (p.Asp1421Ala) c.4157A>C (p.Asp1386Ala) | |
| 2 | g.26467376C>A | CA346137198 | OTOF | c.4216G>T (p.Asp1406Tyr) c.1915G>T (p.Asp639Tyr) c.1975G>T (p.Asp659Tyr) c.2146G>T (p.Asp716Tyr) c.4201G>T (p.Asp1401Tyr) c.4261G>T (p.Asp1421Tyr) c.4156G>T (p.Asp1386Tyr) | |
| 2 | g.26467376C= | CA1239818428 | OTOF | c.4216G= (p.Asp1406=) c.1915G= (p.Asp639=) c.1975G= (p.Asp659=) c.2146G= (p.Asp716=) c.4201G= (p.Asp1401=) c.4261G= (p.Asp1421=) c.4156G= (p.Asp1386=) | |
| 2 | g.26467376C>G | CA346137199 | OTOF | c.4216G>C (p.Asp1406His) c.1915G>C (p.Asp639His) c.1975G>C (p.Asp659His) c.2146G>C (p.Asp716His) c.4201G>C (p.Asp1401His) c.4261G>C (p.Asp1421His) c.4156G>C (p.Asp1386His) | |
| 2 | g.26467376C>T | CA142880 | OTOF | c.4216G>A (p.Asp1406Asn) c.1915G>A (p.Asp639Asn) c.1975G>A (p.Asp659Asn) c.2146G>A (p.Asp716Asn) c.4201G>A (p.Asp1401Asn) c.4261G>A (p.Asp1421Asn) c.4156G>A (p.Asp1386Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26467377A>C | CA346137200 | OTOF | c.4215T>G (p.Ile1405Met) c.1914T>G (p.Ile638Met) c.1974T>G (p.Ile658Met) c.2145T>G (p.Ile715Met) c.4200T>G (p.Ile1400Met) c.4260T>G (p.Ile1420Met) c.4155T>G (p.Ile1385Met) | |
| 2 | g.26467377A>G | CA425207382 | OTOF | c.4215T>C (p.Ile1405=) c.1914T>C (p.Ile638=) c.1974T>C (p.Ile658=) c.2145T>C (p.Ile715=) c.4200T>C (p.Ile1400=) c.4260T>C (p.Ile1420=) c.4155T>C (p.Ile1385=) | |
| 2 | g.26467377A>T | CA425207383 | OTOF | c.4215T>A (p.Ile1405=) c.1914T>A (p.Ile638=) c.1974T>A (p.Ile658=) c.2145T>A (p.Ile715=) c.4200T>A (p.Ile1400=) c.4260T>A (p.Ile1420=) c.4155T>A (p.Ile1385=) | COSMIC COSMIC COSMIC |
| 2 | g.26467378A>C | CA346137201 | OTOF | c.4214T>G (p.Ile1405Ser) c.1913T>G (p.Ile638Ser) c.1973T>G (p.Ile658Ser) c.2144T>G (p.Ile715Ser) c.4199T>G (p.Ile1400Ser) c.4259T>G (p.Ile1420Ser) c.4154T>G (p.Ile1385Ser) | |
| 2 | g.26467378A>G | CA346137202 | OTOF | c.4214T>C (p.Ile1405Thr) c.1913T>C (p.Ile638Thr) c.1973T>C (p.Ile658Thr) c.2144T>C (p.Ile715Thr) c.4199T>C (p.Ile1400Thr) c.4259T>C (p.Ile1420Thr) c.4154T>C (p.Ile1385Thr) | gnomAD v4 |
| 2 | g.26467378A>T | CA346137203 | OTOF | c.4214T>A (p.Ile1405Asn) c.1913T>A (p.Ile638Asn) c.1973T>A (p.Ile658Asn) c.2144T>A (p.Ile715Asn) c.4199T>A (p.Ile1400Asn) c.4259T>A (p.Ile1420Asn) c.4154T>A (p.Ile1385Asn) | |
| 2 | g.26467379T>A | CA346137204 | OTOF | c.4213A>T (p.Ile1405Phe) c.1912A>T (p.Ile638Phe) c.1972A>T (p.Ile658Phe) c.2143A>T (p.Ile715Phe) c.4198A>T (p.Ile1400Phe) c.4258A>T (p.Ile1420Phe) c.4153A>T (p.Ile1385Phe) | |
| 2 | g.26467379T>C | CA177547 | OTOF | c.4213A>G (p.Ile1405Val) c.1912A>G (p.Ile638Val) c.1972A>G (p.Ile658Val) c.2143A>G (p.Ile715Val) c.4198A>G (p.Ile1400Val) c.4258A>G (p.Ile1420Val) c.4153A>G (p.Ile1385Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26467379T>G | CA346137205 | OTOF | c.4213A>C (p.Ile1405Leu) c.1912A>C (p.Ile638Leu) c.1972A>C (p.Ile658Leu) c.2143A>C (p.Ile715Leu) c.4198A>C (p.Ile1400Leu) c.4258A>C (p.Ile1420Leu) c.4153A>C (p.Ile1385Leu) | |
| 2 | g.26467379T= | CA1239818435 | OTOF | c.4213A= (p.Ile1405=) c.1912A= (p.Ile638=) c.1972A= (p.Ile658=) c.2143A= (p.Ile715=) c.4198A= (p.Ile1400=) c.4258A= (p.Ile1420=) c.4153A= (p.Ile1385=) | |
| 2 | g.26467380C>A | CA346137206 | OTOF | c.4212G>T (p.Lys1404Asn) c.1911G>T (p.Lys637Asn) c.1971G>T (p.Lys657Asn) c.2142G>T (p.Lys714Asn) c.4197G>T (p.Lys1399Asn) c.4257G>T (p.Lys1419Asn) c.4152G>T (p.Lys1384Asn) | |
| 2 | g.26467380C>G | CA346137207 | OTOF | c.4212G>C (p.Lys1404Asn) c.1911G>C (p.Lys637Asn) c.1971G>C (p.Lys657Asn) c.2142G>C (p.Lys714Asn) c.4197G>C (p.Lys1399Asn) c.4257G>C (p.Lys1419Asn) c.4152G>C (p.Lys1384Asn) | |
| 2 | g.26467380C>T | CA425207387 | OTOF | c.4212G>A (p.Lys1404=) c.1911G>A (p.Lys637=) c.1971G>A (p.Lys657=) c.2142G>A (p.Lys714=) c.4197G>A (p.Lys1399=) c.4257G>A (p.Lys1419=) c.4152G>A (p.Lys1384=) | |
| 2 | g.26467381T>A | CA346137208 | OTOF | c.4211A>T (p.Lys1404Met) c.1910A>T (p.Lys637Met) c.1970A>T (p.Lys657Met) c.2141A>T (p.Lys714Met) c.4196A>T (p.Lys1399Met) c.4256A>T (p.Lys1419Met) c.4151A>T (p.Lys1384Met) | |
| 2 | g.26467381T>C | CA346137209 | OTOF | c.4211A>G (p.Lys1404Arg) c.1910A>G (p.Lys637Arg) c.1970A>G (p.Lys657Arg) c.2141A>G (p.Lys714Arg) c.4196A>G (p.Lys1399Arg) c.4256A>G (p.Lys1419Arg) c.4151A>G (p.Lys1384Arg) | |
| 2 | g.26467381T>G | CA346137210 | OTOF | c.4211A>C (p.Lys1404Thr) c.1910A>C (p.Lys637Thr) c.1970A>C (p.Lys657Thr) c.2141A>C (p.Lys714Thr) c.4196A>C (p.Lys1399Thr) c.4256A>C (p.Lys1419Thr) c.4151A>C (p.Lys1384Thr) | |
| 2 | g.26467382T>A | CA346137213 | OTOF | c.4210A>T (p.Lys1404Ter) c.1909A>T (p.Lys637Ter) c.1969A>T (p.Lys657Ter) c.2140A>T (p.Lys714Ter) c.4195A>T (p.Lys1399Ter) c.4255A>T (p.Lys1419Ter) c.4150A>T (p.Lys1384Ter) | |
| 2 | g.26467382T>C | CA346137211 | OTOF | c.4210A>G (p.Lys1404Glu) c.1909A>G (p.Lys637Glu) c.1969A>G (p.Lys657Glu) c.2140A>G (p.Lys714Glu) c.4195A>G (p.Lys1399Glu) c.4255A>G (p.Lys1419Glu) c.4150A>G (p.Lys1384Glu) | |
| 2 | g.26467382T>G | CA346137212 | OTOF | c.4210A>C (p.Lys1404Gln) c.1909A>C (p.Lys637Gln) c.1969A>C (p.Lys657Gln) c.2140A>C (p.Lys714Gln) c.4195A>C (p.Lys1399Gln) c.4255A>C (p.Lys1419Gln) c.4150A>C (p.Lys1384Gln) | |
| 2 | g.26467383G>A | CA425207388 | OTOF | c.4209C>T (p.Pro1403=) c.1908C>T (p.Pro636=) c.1968C>T (p.Pro656=) c.2139C>T (p.Pro713=) c.4194C>T (p.Pro1398=) c.4254C>T (p.Pro1418=) c.4149C>T (p.Pro1383=) | |
| 2 | g.26467383G>C | CA425207389 | OTOF | c.4209C>G (p.Pro1403=) c.1908C>G (p.Pro636=) c.1968C>G (p.Pro656=) c.2139C>G (p.Pro713=) c.4194C>G (p.Pro1398=) c.4254C>G (p.Pro1418=) c.4149C>G (p.Pro1383=) | |
| 2 | g.26467383G>T | CA425207390 | OTOF | c.4209C>A (p.Pro1403=) c.1908C>A (p.Pro636=) c.1968C>A (p.Pro656=) c.2139C>A (p.Pro713=) c.4194C>A (p.Pro1398=) c.4254C>A (p.Pro1418=) c.4149C>A (p.Pro1383=) | |
| 2 | g.26467384G>A | CA346137214 | OTOF | c.4208C>T (p.Pro1403Leu) c.1907C>T (p.Pro636Leu) c.1967C>T (p.Pro656Leu) c.2138C>T (p.Pro713Leu) c.4193C>T (p.Pro1398Leu) c.4253C>T (p.Pro1418Leu) c.4148C>T (p.Pro1383Leu) | |
| 2 | g.26467384G>C | CA346137215 | OTOF | c.4208C>G (p.Pro1403Arg) c.1907C>G (p.Pro636Arg) c.1967C>G (p.Pro656Arg) c.2138C>G (p.Pro713Arg) c.4193C>G (p.Pro1398Arg) c.4253C>G (p.Pro1418Arg) c.4148C>G (p.Pro1383Arg) | |
| 2 | g.26467384G>T | CA346137216 | OTOF | c.4208C>A (p.Pro1403His) c.1907C>A (p.Pro636His) c.1967C>A (p.Pro656His) c.2138C>A (p.Pro713His) c.4193C>A (p.Pro1398His) c.4253C>A (p.Pro1418His) c.4148C>A (p.Pro1383His) | |
| 2 | g.26467385G>A | CA346137217 | OTOF | c.4207C>T (p.Pro1403Ser) c.1906C>T (p.Pro636Ser) c.1966C>T (p.Pro656Ser) c.2137C>T (p.Pro713Ser) c.4192C>T (p.Pro1398Ser) c.4252C>T (p.Pro1418Ser) c.4147C>T (p.Pro1383Ser) | |
| 2 | g.26467385G>C | CA346137218 | OTOF | c.4207C>G (p.Pro1403Ala) c.1906C>G (p.Pro636Ala) c.1966C>G (p.Pro656Ala) c.2137C>G (p.Pro713Ala) c.4192C>G (p.Pro1398Ala) c.4252C>G (p.Pro1418Ala) c.4147C>G (p.Pro1383Ala) | |
| 2 | g.26467385G= | CA1239818438 | OTOF | c.4207C= (p.Pro1403=) c.1906C= (p.Pro636=) c.1966C= (p.Pro656=) c.2137C= (p.Pro713=) c.4192C= (p.Pro1398=) c.4252C= (p.Pro1418=) c.4147C= (p.Pro1383=) | |
| 2 | g.26467385G>T | CA346137219 | OTOF | c.4207C>A (p.Pro1403Thr) c.1906C>A (p.Pro636Thr) c.1966C>A (p.Pro656Thr) c.2137C>A (p.Pro713Thr) c.4192C>A (p.Pro1398Thr) c.4252C>A (p.Pro1418Thr) c.4147C>A (p.Pro1383Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26467386T>A | CA346137220 | OTOF | c.4206A>T (p.Lys1402Asn) c.1905A>T (p.Lys635Asn) c.1965A>T (p.Lys655Asn) c.2136A>T (p.Lys712Asn) c.4191A>T (p.Lys1397Asn) c.4251A>T (p.Lys1417Asn) c.4146A>T (p.Lys1382Asn) | |
| 2 | g.26467386T>C | CA425207391 | OTOF | c.4206A>G (p.Lys1402=) c.1905A>G (p.Lys635=) c.1965A>G (p.Lys655=) c.2136A>G (p.Lys712=) c.4191A>G (p.Lys1397=) c.4251A>G (p.Lys1417=) c.4146A>G (p.Lys1382=) | |
| 2 | g.26467386T>G | CA346137221 | OTOF | c.4206A>C (p.Lys1402Asn) c.1905A>C (p.Lys635Asn) c.1965A>C (p.Lys655Asn) c.2136A>C (p.Lys712Asn) c.4191A>C (p.Lys1397Asn) c.4251A>C (p.Lys1417Asn) c.4146A>C (p.Lys1382Asn) | |
| 2 | g.26467386_26467388dup | CA2658234866 | OTOF | c.4204_4206dup (p.Lys1402_Pro1403insLys) c.1903_1905dup (p.Lys635_Pro636insLys) c.1963_1965dup (p.Lys655_Pro656insLys) c.2134_2136dup (p.Lys712_Pro713insLys) c.4189_4191dup (p.Lys1397_Pro1398insLys) c.4249_4251dup (p.Lys1417_Pro1418insLys) c.4144_4146dup (p.Lys1382_Pro1383insLys) | gnomAD v4 |
| 2 | g.26467387T>A | CA346137222 | OTOF | c.4205A>T (p.Lys1402Ile) c.1904A>T (p.Lys635Ile) c.1964A>T (p.Lys655Ile) c.2135A>T (p.Lys712Ile) c.4190A>T (p.Lys1397Ile) c.4250A>T (p.Lys1417Ile) c.4145A>T (p.Lys1382Ile) | |
| 2 | g.26467387T>C | CA346137223 | OTOF | c.4205A>G (p.Lys1402Arg) c.1904A>G (p.Lys635Arg) c.1964A>G (p.Lys655Arg) c.2135A>G (p.Lys712Arg) c.4190A>G (p.Lys1397Arg) c.4250A>G (p.Lys1417Arg) c.4145A>G (p.Lys1382Arg) | |
| 2 | g.26467387T>G | CA346137224 | OTOF | c.4205A>C (p.Lys1402Thr) c.1904A>C (p.Lys635Thr) c.1964A>C (p.Lys655Thr) c.2135A>C (p.Lys712Thr) c.4190A>C (p.Lys1397Thr) c.4250A>C (p.Lys1417Thr) c.4145A>C (p.Lys1382Thr) | |
| 2 | g.26467394_26467396del | CA2658234867 | OTOF | c.4203_4205del (p.Lys1402del) c.1902_1904del (p.Lys635del) c.1962_1964del (p.Lys655del) c.2133_2135del (p.Lys712del) c.4188_4190del (p.Lys1397del) c.4248_4250del (p.Lys1417del) c.4143_4145del (p.Lys1382del) | gnomAD v4 |
| 2 | g.26467388T>A | CA346137227 | OTOF | c.4204A>T (p.Lys1402Ter) c.1903A>T (p.Lys635Ter) c.1963A>T (p.Lys655Ter) c.2134A>T (p.Lys712Ter) c.4189A>T (p.Lys1397Ter) c.4249A>T (p.Lys1417Ter) c.4144A>T (p.Lys1382Ter) | |
| 2 | g.26467388T>C | CA346137226 | OTOF | c.4204A>G (p.Lys1402Glu) c.1903A>G (p.Lys635Glu) c.1963A>G (p.Lys655Glu) c.2134A>G (p.Lys712Glu) c.4189A>G (p.Lys1397Glu) c.4249A>G (p.Lys1417Glu) c.4144A>G (p.Lys1382Glu) | |
| 2 | g.26467388T>G | CA346137225 | OTOF | c.4204A>C (p.Lys1402Gln) c.1903A>C (p.Lys635Gln) c.1963A>C (p.Lys655Gln) c.2134A>C (p.Lys712Gln) c.4189A>C (p.Lys1397Gln) c.4249A>C (p.Lys1417Gln) c.4144A>C (p.Lys1382Gln) | |
| 2 | g.26467389C>A | CA346137228 | OTOF | c.4203G>T (p.Lys1401Asn) c.1902G>T (p.Lys634Asn) c.1962G>T (p.Lys654Asn) c.2133G>T (p.Lys711Asn) c.4188G>T (p.Lys1396Asn) c.4248G>T (p.Lys1416Asn) c.4143G>T (p.Lys1381Asn) | |
| 2 | g.26467389C>G | CA346137229 | OTOF | c.4203G>C (p.Lys1401Asn) c.1902G>C (p.Lys634Asn) c.1962G>C (p.Lys654Asn) c.2133G>C (p.Lys711Asn) c.4188G>C (p.Lys1396Asn) c.4248G>C (p.Lys1416Asn) c.4143G>C (p.Lys1381Asn) | |
| 2 | g.26467389C>T | CA425207393 | OTOF | c.4203G>A (p.Lys1401=) c.1902G>A (p.Lys634=) c.1962G>A (p.Lys654=) c.2133G>A (p.Lys711=) c.4188G>A (p.Lys1396=) c.4248G>A (p.Lys1416=) c.4143G>A (p.Lys1381=) | |
| 2 | g.26467390T>A | CA346137230 | OTOF | c.4202A>T (p.Lys1401Met) c.1901A>T (p.Lys634Met) c.1961A>T (p.Lys654Met) c.2132A>T (p.Lys711Met) c.4187A>T (p.Lys1396Met) c.4247A>T (p.Lys1416Met) c.4142A>T (p.Lys1381Met) | |
| 2 | g.26467390T>C | CA346137231 | OTOF | c.4202A>G (p.Lys1401Arg) c.1901A>G (p.Lys634Arg) c.1961A>G (p.Lys654Arg) c.2132A>G (p.Lys711Arg) c.4187A>G (p.Lys1396Arg) c.4247A>G (p.Lys1416Arg) c.4142A>G (p.Lys1381Arg) | |
| 2 | g.26467390T>G | CA346137232 | OTOF | c.4202A>C (p.Lys1401Thr) c.1901A>C (p.Lys634Thr) c.1961A>C (p.Lys654Thr) c.2132A>C (p.Lys711Thr) c.4187A>C (p.Lys1396Thr) c.4247A>C (p.Lys1416Thr) c.4142A>C (p.Lys1381Thr) | |
| 2 | g.26467391T>A | CA346137233 | OTOF | c.4201A>T (p.Lys1401Ter) c.1900A>T (p.Lys634Ter) c.1960A>T (p.Lys654Ter) c.2131A>T (p.Lys711Ter) c.4186A>T (p.Lys1396Ter) c.4246A>T (p.Lys1416Ter) c.4141A>T (p.Lys1381Ter) | |
| 2 | g.26467391T>C | CA346137234 | OTOF | c.4201A>G (p.Lys1401Glu) c.1900A>G (p.Lys634Glu) c.1960A>G (p.Lys654Glu) c.2131A>G (p.Lys711Glu) c.4186A>G (p.Lys1396Glu) c.4246A>G (p.Lys1416Glu) c.4141A>G (p.Lys1381Glu) | |
| 2 | g.26467391T>G | CA346137235 | OTOF | c.4201A>C (p.Lys1401Gln) c.1900A>C (p.Lys634Gln) c.1960A>C (p.Lys654Gln) c.2131A>C (p.Lys711Gln) c.4186A>C (p.Lys1396Gln) c.4246A>C (p.Lys1416Gln) c.4141A>C (p.Lys1381Gln) | |
| 2 | g.26467392C>A | CA346137236 | OTOF | c.4200G>T (p.Lys1400Asn) c.1899G>T (p.Lys633Asn) c.1959G>T (p.Lys653Asn) c.2130G>T (p.Lys710Asn) c.4185G>T (p.Lys1395Asn) c.4245G>T (p.Lys1415Asn) c.4140G>T (p.Lys1380Asn) | |
| 2 | g.26467392C>G | CA346137237 | OTOF | c.4200G>C (p.Lys1400Asn) c.1899G>C (p.Lys633Asn) c.1959G>C (p.Lys653Asn) c.2130G>C (p.Lys710Asn) c.4185G>C (p.Lys1395Asn) c.4245G>C (p.Lys1415Asn) c.4140G>C (p.Lys1380Asn) | |
| 2 | g.26467392C>T | CA425207394 | OTOF | c.4200G>A (p.Lys1400=) c.1899G>A (p.Lys633=) c.1959G>A (p.Lys653=) c.2130G>A (p.Lys710=) c.4185G>A (p.Lys1395=) c.4245G>A (p.Lys1415=) c.4140G>A (p.Lys1380=) | COSMIC COSMIC COSMIC |
| 2 | g.26467393T>A | CA346137238 | OTOF | c.4199A>T (p.Lys1400Met) c.1898A>T (p.Lys633Met) c.1958A>T (p.Lys653Met) c.2129A>T (p.Lys710Met) c.4184A>T (p.Lys1395Met) c.4244A>T (p.Lys1415Met) c.4139A>T (p.Lys1380Met) | |
| 2 | g.26467393T>C | CA346137240 | OTOF | c.4199A>G (p.Lys1400Arg) c.1898A>G (p.Lys633Arg) c.1958A>G (p.Lys653Arg) c.2129A>G (p.Lys710Arg) c.4184A>G (p.Lys1395Arg) c.4244A>G (p.Lys1415Arg) c.4139A>G (p.Lys1380Arg) | dbSNP |
| 2 | g.26467393T>G | CA346137241 | OTOF | c.4199A>C (p.Lys1400Thr) c.1898A>C (p.Lys633Thr) c.1958A>C (p.Lys653Thr) c.2129A>C (p.Lys710Thr) c.4184A>C (p.Lys1395Thr) c.4244A>C (p.Lys1415Thr) c.4139A>C (p.Lys1380Thr) | |
| 2 | g.26467393T= | CA1239818440 | OTOF | c.4199A= (p.Lys1400=) c.1898A= (p.Lys633=) c.1958A= (p.Lys653=) c.2129A= (p.Lys710=) c.4184A= (p.Lys1395=) c.4244A= (p.Lys1415=) c.4139A= (p.Lys1380=) | |
| 2 | g.26467394T>A | CA346137244 | OTOF | c.4198A>T (p.Lys1400Ter) c.1897A>T (p.Lys633Ter) c.1957A>T (p.Lys653Ter) c.2128A>T (p.Lys710Ter) c.4183A>T (p.Lys1395Ter) c.4243A>T (p.Lys1415Ter) c.4138A>T (p.Lys1380Ter) | |
| 2 | g.26467394T>C | CA346137242 | OTOF | c.4198A>G (p.Lys1400Glu) c.1897A>G (p.Lys633Glu) c.1957A>G (p.Lys653Glu) c.2128A>G (p.Lys710Glu) c.4183A>G (p.Lys1395Glu) c.4243A>G (p.Lys1415Glu) c.4138A>G (p.Lys1380Glu) | gnomAD v4 |
| 2 | g.26467394T>G | CA346137243 | OTOF | c.4198A>C (p.Lys1400Gln) c.1897A>C (p.Lys633Gln) c.1957A>C (p.Lys653Gln) c.2128A>C (p.Lys710Gln) c.4183A>C (p.Lys1395Gln) c.4243A>C (p.Lys1415Gln) c.4138A>C (p.Lys1380Gln) | |
| 2 | g.26467394_26467397delinsTCTC | CA1239818443 | OTOF | c.4195_4198delinsGAGA (p.Glu1399=) c.1894_1897delinsGAGA (p.Glu632=) c.1954_1957delinsGAGA (p.Glu652=) c.2125_2128delinsGAGA (p.Glu709=) c.4180_4183delinsGAGA (p.Glu1394=) c.4240_4243delinsGAGA (p.Glu1414=) c.4135_4138delinsGAGA (p.Glu1379=) | |
| 2 | g.26467395C>A | CA346137245 | OTOF | c.4197G>T (p.Glu1399Asp) c.1896G>T (p.Glu632Asp) c.1956G>T (p.Glu652Asp) c.2127G>T (p.Glu709Asp) c.4182G>T (p.Glu1394Asp) c.4242G>T (p.Glu1414Asp) c.4137G>T (p.Glu1379Asp) | |
| 2 | g.26467395C>G | CA346137246 | OTOF | c.4197G>C (p.Glu1399Asp) c.1896G>C (p.Glu632Asp) c.1956G>C (p.Glu652Asp) c.2127G>C (p.Glu709Asp) c.4182G>C (p.Glu1394Asp) c.4242G>C (p.Glu1414Asp) c.4137G>C (p.Glu1379Asp) | |
| 2 | g.26467395C>T | CA425207395 | OTOF | c.4197G>A (p.Glu1399=) c.1896G>A (p.Glu632=) c.1956G>A (p.Glu652=) c.2127G>A (p.Glu709=) c.4182G>A (p.Glu1394=) c.4242G>A (p.Glu1414=) c.4137G>A (p.Glu1379=) | |
| 2 | g.26467395_26467397del | CA1563258 | OTOF | c.4195_4197del (p.Glu1399del) c.1894_1896del (p.Glu632del) c.1954_1956del (p.Glu652del) c.2125_2127del (p.Glu709del) c.4180_4182del (p.Glu1394del) c.4240_4242del (p.Glu1414del) c.4135_4137del (p.Glu1379del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26467395_26467397dup | CA2576699132 | OTOF | c.4195_4197dup (p.Glu1399_Lys1400insGlu) c.1894_1896dup (p.Glu632_Lys633insGlu) c.1954_1956dup (p.Glu652_Lys653insGlu) c.2125_2127dup (p.Glu709_Lys710insGlu) c.4180_4182dup (p.Glu1394_Lys1395insGlu) c.4240_4242dup (p.Glu1414_Lys1415insGlu) c.4135_4137dup (p.Glu1379_Lys1380insGlu) | |
| 2 | g.26467396T>A | CA346137247 | OTOF | c.4196A>T (p.Glu1399Val) c.1895A>T (p.Glu632Val) c.1955A>T (p.Glu652Val) c.2126A>T (p.Glu709Val) c.4181A>T (p.Glu1394Val) c.4241A>T (p.Glu1414Val) c.4136A>T (p.Glu1379Val) | |
| 2 | g.26467396T>C | CA346137248 | OTOF | c.4196A>G (p.Glu1399Gly) c.1895A>G (p.Glu632Gly) c.1955A>G (p.Glu652Gly) c.2126A>G (p.Glu709Gly) c.4181A>G (p.Glu1394Gly) c.4241A>G (p.Glu1414Gly) c.4136A>G (p.Glu1379Gly) | gnomAD v4 |
| 2 | g.26467396T>G | CA346137249 | OTOF | c.4196A>C (p.Glu1399Ala) c.1895A>C (p.Glu632Ala) c.1955A>C (p.Glu652Ala) c.2126A>C (p.Glu709Ala) c.4181A>C (p.Glu1394Ala) c.4241A>C (p.Glu1414Ala) c.4136A>C (p.Glu1379Ala) | gnomAD v4 |
| 2 | g.26467397C>A | CA346137250 | OTOF | c.4195G>T (p.Glu1399Ter) c.1894G>T (p.Glu632Ter) c.1954G>T (p.Glu652Ter) c.2125G>T (p.Glu709Ter) c.4180G>T (p.Glu1394Ter) c.4240G>T (p.Glu1414Ter) c.4135G>T (p.Glu1379Ter) | |
| 2 | g.26467397C= | CA1239818449 | OTOF | c.4195G= (p.Glu1399=) c.1894G= (p.Glu632=) c.1954G= (p.Glu652=) c.2125G= (p.Glu709=) c.4180G= (p.Glu1394=) c.4240G= (p.Glu1414=) c.4135G= (p.Glu1379=) | |
| 2 | g.26467397C>G | CA346137251 | OTOF | c.4195G>C (p.Glu1399Gln) c.1894G>C (p.Glu632Gln) c.1954G>C (p.Glu652Gln) c.2125G>C (p.Glu709Gln) c.4180G>C (p.Glu1394Gln) c.4240G>C (p.Glu1414Gln) c.4135G>C (p.Glu1379Gln) | gnomAD v4 |
| 2 | g.26467397C>T | CA1563259 | OTOF | c.4195G>A (p.Glu1399Lys) c.1894G>A (p.Glu632Lys) c.1954G>A (p.Glu652Lys) c.2125G>A (p.Glu709Lys) c.4180G>A (p.Glu1394Lys) c.4240G>A (p.Glu1414Lys) c.4135G>A (p.Glu1379Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 2 | g.26467398G>A | CA1563260 | OTOF | c.4194C>T (p.Pro1398=) c.1893C>T (p.Pro631=) c.1953C>T (p.Pro651=) c.2124C>T (p.Pro708=) c.4179C>T (p.Pro1393=) c.4239C>T (p.Pro1413=) c.4134C>T (p.Pro1378=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 2 | g.26467398G>C | CA425207399 | OTOF | c.4194C>G (p.Pro1398=) c.1893C>G (p.Pro631=) c.1953C>G (p.Pro651=) c.2124C>G (p.Pro708=) c.4179C>G (p.Pro1393=) c.4239C>G (p.Pro1413=) c.4134C>G (p.Pro1378=) | |
| 2 | g.26467398G= | CA1239818456 | OTOF | c.4194C= (p.Pro1398=) c.1893C= (p.Pro631=) c.1953C= (p.Pro651=) c.2124C= (p.Pro708=) c.4179C= (p.Pro1393=) c.4239C= (p.Pro1413=) c.4134C= (p.Pro1378=) | |
| 2 | g.26467398G>T | CA425207398 | OTOF | c.4194C>A (p.Pro1398=) c.1893C>A (p.Pro631=) c.1953C>A (p.Pro651=) c.2124C>A (p.Pro708=) c.4179C>A (p.Pro1393=) c.4239C>A (p.Pro1413=) c.4134C>A (p.Pro1378=) | |
| 2 | g.26467402del | CA425207397 | OTOF | c.4194del (p.Glu1399ArgfsTer?) c.1893del (p.Glu632ArgfsTer?) c.1953del (p.Glu652ArgfsTer?) c.2124del (p.Glu709ArgfsTer?) c.4179del (p.Glu1394ArgfsTer?) c.4239del (p.Glu1414ArgfsTer?) c.4134del (p.Glu1379ArgfsTer?) | gnomAD v4 COSMIC COSMIC |
| 2 | g.26467399G>A | CA1563261 | OTOF | c.4193C>T (p.Pro1398Leu) c.1892C>T (p.Pro631Leu) c.1952C>T (p.Pro651Leu) c.2123C>T (p.Pro708Leu) c.4178C>T (p.Pro1393Leu) c.4238C>T (p.Pro1413Leu) c.4133C>T (p.Pro1378Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26467399G>C | CA346137252 | OTOF | c.4193C>G (p.Pro1398Arg) c.1892C>G (p.Pro631Arg) c.1952C>G (p.Pro651Arg) c.2123C>G (p.Pro708Arg) c.4178C>G (p.Pro1393Arg) c.4238C>G (p.Pro1413Arg) c.4133C>G (p.Pro1378Arg) | |
| 2 | g.26467399G= | CA1239818459 | OTOF | c.4193C= (p.Pro1398=) c.1892C= (p.Pro631=) c.1952C= (p.Pro651=) c.2123C= (p.Pro708=) c.4178C= (p.Pro1393=) c.4238C= (p.Pro1413=) c.4133C= (p.Pro1378=) | |
| 2 | g.26467399G>T | CA346137253 | OTOF | c.4193C>A (p.Pro1398His) c.1892C>A (p.Pro631His) c.1952C>A (p.Pro651His) c.2123C>A (p.Pro708His) c.4178C>A (p.Pro1393His) c.4238C>A (p.Pro1413His) c.4133C>A (p.Pro1378His) | |
| 2 | g.26467400G>A | CA346137255 | OTOF | c.4192C>T (p.Pro1398Ser) c.1891C>T (p.Pro631Ser) c.1951C>T (p.Pro651Ser) c.2122C>T (p.Pro708Ser) c.4177C>T (p.Pro1393Ser) c.4237C>T (p.Pro1413Ser) c.4132C>T (p.Pro1378Ser) | dbSNP gnomAD v4 |
| 2 | g.26467400G>C | CA346137256 | OTOF | c.4192C>G (p.Pro1398Ala) c.1891C>G (p.Pro631Ala) c.1951C>G (p.Pro651Ala) c.2122C>G (p.Pro708Ala) c.4177C>G (p.Pro1393Ala) c.4237C>G (p.Pro1413Ala) c.4132C>G (p.Pro1378Ala) | |
| 2 | g.26467400G= | CA1239818460 | OTOF | c.4192C= (p.Pro1398=) c.1891C= (p.Pro631=) c.1951C= (p.Pro651=) c.2122C= (p.Pro708=) c.4177C= (p.Pro1393=) c.4237C= (p.Pro1413=) c.4132C= (p.Pro1378=) | |
| 2 | g.26467400G>T | CA346137254 | OTOF | c.4192C>A (p.Pro1398Thr) c.1891C>A (p.Pro631Thr) c.1951C>A (p.Pro651Thr) c.2122C>A (p.Pro708Thr) c.4177C>A (p.Pro1393Thr) c.4237C>A (p.Pro1413Thr) c.4132C>A (p.Pro1378Thr) | |
| 2 | g.26467401G>A | CA425207401 | OTOF | c.4191C>T (p.Ala1397=) c.1890C>T (p.Ala630=) c.1950C>T (p.Ala650=) c.2121C>T (p.Ala707=) c.4176C>T (p.Ala1392=) c.4236C>T (p.Ala1412=) c.4131C>T (p.Ala1377=) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26467401G>C | CA425207403 | OTOF | c.4191C>G (p.Ala1397=) c.1890C>G (p.Ala630=) c.1950C>G (p.Ala650=) c.2121C>G (p.Ala707=) c.4176C>G (p.Ala1392=) c.4236C>G (p.Ala1412=) c.4131C>G (p.Ala1377=) | |
| 2 | g.26467401G= | CA1239818462 | OTOF | c.4191C= (p.Ala1397=) c.1890C= (p.Ala630=) c.1950C= (p.Ala650=) c.2121C= (p.Ala707=) c.4176C= (p.Ala1392=) c.4236C= (p.Ala1412=) c.4131C= (p.Ala1377=) | |
| 2 | g.26467401G>T | CA425207404 | OTOF | c.4191C>A (p.Ala1397=) c.1890C>A (p.Ala630=) c.1950C>A (p.Ala650=) c.2121C>A (p.Ala707=) c.4176C>A (p.Ala1392=) c.4236C>A (p.Ala1412=) c.4131C>A (p.Ala1377=) | |
| 2 | g.26467402G>A | CA346137257 | OTOF | c.4190C>T (p.Ala1397Val) c.1889C>T (p.Ala630Val) c.1949C>T (p.Ala650Val) c.2120C>T (p.Ala707Val) c.4175C>T (p.Ala1392Val) c.4235C>T (p.Ala1412Val) c.4130C>T (p.Ala1377Val) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26467402G>C | CA44413980 | OTOF | c.4190C>G (p.Ala1397Gly) c.1889C>G (p.Ala630Gly) c.1949C>G (p.Ala650Gly) c.2120C>G (p.Ala707Gly) c.4175C>G (p.Ala1392Gly) c.4235C>G (p.Ala1412Gly) c.4130C>G (p.Ala1377Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26467402G= | CA1239818464 | OTOF | c.4190C= (p.Ala1397=) c.1889C= (p.Ala630=) c.1949C= (p.Ala650=) c.2120C= (p.Ala707=) c.4175C= (p.Ala1392=) c.4235C= (p.Ala1412=) c.4130C= (p.Ala1377=) | |
| 2 | g.26467402G>T | CA346137258 | OTOF | c.4190C>A (p.Ala1397Asp) c.1889C>A (p.Ala630Asp) c.1949C>A (p.Ala650Asp) c.2120C>A (p.Ala707Asp) c.4175C>A (p.Ala1392Asp) c.4235C>A (p.Ala1412Asp) c.4130C>A (p.Ala1377Asp) | |
| 2 | g.26467403C>A | CA346137259 | OTOF | c.4189G>T (p.Ala1397Ser) c.1888G>T (p.Ala630Ser) c.1948G>T (p.Ala650Ser) c.2119G>T (p.Ala707Ser) c.4174G>T (p.Ala1392Ser) c.4234G>T (p.Ala1412Ser) c.4129G>T (p.Ala1377Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26467403C= | CA1239818465 | OTOF | c.4189G= (p.Ala1397=) c.1888G= (p.Ala630=) c.1948G= (p.Ala650=) c.2119G= (p.Ala707=) c.4174G= (p.Ala1392=) c.4234G= (p.Ala1412=) c.4129G= (p.Ala1377=) | |
| 2 | g.26467403C>G | CA346137261 | OTOF | c.4189G>C (p.Ala1397Pro) c.1888G>C (p.Ala630Pro) c.1948G>C (p.Ala650Pro) c.2119G>C (p.Ala707Pro) c.4174G>C (p.Ala1392Pro) c.4234G>C (p.Ala1412Pro) c.4129G>C (p.Ala1377Pro) | |
| 2 | g.26467403C>T | CA346137260 | OTOF | c.4189G>A (p.Ala1397Thr) c.1888G>A (p.Ala630Thr) c.1948G>A (p.Ala650Thr) c.2119G>A (p.Ala707Thr) c.4174G>A (p.Ala1392Thr) c.4234G>A (p.Ala1412Thr) c.4129G>A (p.Ala1377Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26467404C>A | CA346137262 | OTOF | c.4188G>T (p.Glu1396Asp) c.1887G>T (p.Glu629Asp) c.1947G>T (p.Glu649Asp) c.2118G>T (p.Glu706Asp) c.4173G>T (p.Glu1391Asp) c.4233G>T (p.Glu1411Asp) c.4128G>T (p.Glu1376Asp) | |
| 2 | g.26467404C= | CA1239818467 | OTOF | c.4188G= (p.Glu1396=) c.1887G= (p.Glu629=) c.1947G= (p.Glu649=) c.2118G= (p.Glu706=) c.4173G= (p.Glu1391=) c.4233G= (p.Glu1411=) c.4128G= (p.Glu1376=) | |
| 2 | g.26467404C>G | CA346137263 | OTOF | c.4188G>C (p.Glu1396Asp) c.1887G>C (p.Glu629Asp) c.1947G>C (p.Glu649Asp) c.2118G>C (p.Glu706Asp) c.4173G>C (p.Glu1391Asp) c.4233G>C (p.Glu1411Asp) c.4128G>C (p.Glu1376Asp) | |
| 2 | g.26467404C>T | CA1563262 | OTOF | c.4188G>A (p.Glu1396=) c.1887G>A (p.Glu629=) c.1947G>A (p.Glu649=) c.2118G>A (p.Glu706=) c.4173G>A (p.Glu1391=) c.4233G>A (p.Glu1411=) c.4128G>A (p.Glu1376=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26467405T>A | CA346137264 | OTOF | c.4187A>T (p.Glu1396Val) c.1886A>T (p.Glu629Val) c.1946A>T (p.Glu649Val) c.2117A>T (p.Glu706Val) c.4172A>T (p.Glu1391Val) c.4232A>T (p.Glu1411Val) c.4127A>T (p.Glu1376Val) | |
| 2 | g.26467405T>C | CA346137266 | OTOF | c.4187A>G (p.Glu1396Gly) c.1886A>G (p.Glu629Gly) c.1946A>G (p.Glu649Gly) c.2117A>G (p.Glu706Gly) c.4172A>G (p.Glu1391Gly) c.4232A>G (p.Glu1411Gly) c.4127A>G (p.Glu1376Gly) | |
| 2 | g.26467405T>G | CA346137265 | OTOF | c.4187A>C (p.Glu1396Ala) c.1886A>C (p.Glu629Ala) c.1946A>C (p.Glu649Ala) c.2117A>C (p.Glu706Ala) c.4172A>C (p.Glu1391Ala) c.4232A>C (p.Glu1411Ala) c.4127A>C (p.Glu1376Ala) | |
| 2 | g.26467406C>A | CA346137267 | OTOF | c.4186G>T (p.Glu1396Ter) c.1885G>T (p.Glu629Ter) c.1945G>T (p.Glu649Ter) c.2116G>T (p.Glu706Ter) c.4171G>T (p.Glu1391Ter) c.4231G>T (p.Glu1411Ter) c.4126G>T (p.Glu1376Ter) | |
| 2 | g.26467406C= | CA1239818469 | OTOF | c.4186G= (p.Glu1396=) c.1885G= (p.Glu629=) c.1945G= (p.Glu649=) c.2116G= (p.Glu706=) c.4171G= (p.Glu1391=) c.4231G= (p.Glu1411=) c.4126G= (p.Glu1376=) | |
| 2 | g.26467406C>G | CA346137268 | OTOF | c.4186G>C (p.Glu1396Gln) c.1885G>C (p.Glu629Gln) c.1945G>C (p.Glu649Gln) c.2116G>C (p.Glu706Gln) c.4171G>C (p.Glu1391Gln) c.4231G>C (p.Glu1411Gln) c.4126G>C (p.Glu1376Gln) | dbSNP |
| 2 | g.26467406C>T | CA1563263 | OTOF | c.4186G>A (p.Glu1396Lys) c.1885G>A (p.Glu629Lys) c.1945G>A (p.Glu649Lys) c.2116G>A (p.Glu706Lys) c.4171G>A (p.Glu1391Lys) c.4231G>A (p.Glu1411Lys) c.4126G>A (p.Glu1376Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26467407G>A | CA1563264 | OTOF | c.4185C>T (p.Ser1395=) c.1884C>T (p.Ser628=) c.1944C>T (p.Ser648=) c.2115C>T (p.Ser705=) c.4170C>T (p.Ser1390=) c.4230C>T (p.Ser1410=) c.4125C>T (p.Ser1375=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 2 | g.26467407G>C | CA425207406 | OTOF | c.4185C>G (p.Ser1395=) c.1884C>G (p.Ser628=) c.1944C>G (p.Ser648=) c.2115C>G (p.Ser705=) c.4170C>G (p.Ser1390=) c.4230C>G (p.Ser1410=) c.4125C>G (p.Ser1375=) | gnomAD v4 |
| 2 | g.26467407G= | CA1239818473 | OTOF | c.4185C= (p.Ser1395=) c.1884C= (p.Ser628=) c.1944C= (p.Ser648=) c.2115C= (p.Ser705=) c.4170C= (p.Ser1390=) c.4230C= (p.Ser1410=) c.4125C= (p.Ser1375=) | |
| 2 | g.26467407G>T | CA425207407 | OTOF | c.4185C>A (p.Ser1395=) c.1884C>A (p.Ser628=) c.1944C>A (p.Ser648=) c.2115C>A (p.Ser705=) c.4170C>A (p.Ser1390=) c.4230C>A (p.Ser1410=) c.4125C>A (p.Ser1375=) | |
| 2 | g.26467408G>A | CA346137270 | OTOF | c.4184C>T (p.Ser1395Phe) c.1883C>T (p.Ser628Phe) c.1943C>T (p.Ser648Phe) c.2114C>T (p.Ser705Phe) c.4169C>T (p.Ser1390Phe) c.4229C>T (p.Ser1410Phe) c.4124C>T (p.Ser1375Phe) | |
| 2 | g.26467408G>C | CA346137269 | OTOF | c.4184C>G (p.Ser1395Cys) c.1883C>G (p.Ser628Cys) c.1943C>G (p.Ser648Cys) c.2114C>G (p.Ser705Cys) c.4169C>G (p.Ser1390Cys) c.4229C>G (p.Ser1410Cys) c.4124C>G (p.Ser1375Cys) | |
| 2 | g.26467408G>T | CA346137271 | OTOF | c.4184C>A (p.Ser1395Tyr) c.1883C>A (p.Ser628Tyr) c.1943C>A (p.Ser648Tyr) c.2114C>A (p.Ser705Tyr) c.4169C>A (p.Ser1390Tyr) c.4229C>A (p.Ser1410Tyr) c.4124C>A (p.Ser1375Tyr) | |
| 2 | g.26467409A= | CA1239818477 | OTOF | c.4183T= (p.Ser1395=) c.1882T= (p.Ser628=) c.1942T= (p.Ser648=) c.2113T= (p.Ser705=) c.4168T= (p.Ser1390=) c.4228T= (p.Ser1410=) c.4123T= (p.Ser1375=) | |
| 2 | g.26467409A>C | CA1563265 | OTOF | c.4183T>G (p.Ser1395Ala) c.1882T>G (p.Ser628Ala) c.1942T>G (p.Ser648Ala) c.2113T>G (p.Ser705Ala) c.4168T>G (p.Ser1390Ala) c.4228T>G (p.Ser1410Ala) c.4123T>G (p.Ser1375Ala) | dbSNP ExAC |
| 2 | g.26467409A>G | CA346137272 | OTOF | c.4183T>C (p.Ser1395Pro) c.1882T>C (p.Ser628Pro) c.1942T>C (p.Ser648Pro) c.2113T>C (p.Ser705Pro) c.4168T>C (p.Ser1390Pro) c.4228T>C (p.Ser1410Pro) c.4123T>C (p.Ser1375Pro) | |
| 2 | g.26467409A>T | CA346137273 | OTOF | c.4183T>A (p.Ser1395Thr) c.1882T>A (p.Ser628Thr) c.1942T>A (p.Ser648Thr) c.2113T>A (p.Ser705Thr) c.4168T>A (p.Ser1390Thr) c.4228T>A (p.Ser1410Thr) c.4123T>A (p.Ser1375Thr) | |
| 2 | g.26467410C>A | CA425207410 | OTOF | c.4182G>T (p.Gly1394=) c.1881G>T (p.Gly627=) c.1941G>T (p.Gly647=) c.2112G>T (p.Gly704=) c.4167G>T (p.Gly1389=) c.4227G>T (p.Gly1409=) c.4122G>T (p.Gly1374=) | |
| 2 | g.26467410C>G | CA425207408 | OTOF | c.4182G>C (p.Gly1394=) c.1881G>C (p.Gly627=) c.1941G>C (p.Gly647=) c.2112G>C (p.Gly704=) c.4167G>C (p.Gly1389=) c.4227G>C (p.Gly1409=) c.4122G>C (p.Gly1374=) | |
| 2 | g.26467410C>T | CA425207409 | OTOF | c.4182G>A (p.Gly1394=) c.1881G>A (p.Gly627=) c.1941G>A (p.Gly647=) c.2112G>A (p.Gly704=) c.4167G>A (p.Gly1389=) c.4227G>A (p.Gly1409=) c.4122G>A (p.Gly1374=) | |
| 2 | g.26467411C>A | CA346137274 | OTOF | c.4181G>T (p.Gly1394Val) c.1880G>T (p.Gly627Val) c.1940G>T (p.Gly647Val) c.2111G>T (p.Gly704Val) c.4166G>T (p.Gly1389Val) c.4226G>T (p.Gly1409Val) c.4121G>T (p.Gly1374Val) | |
| 2 | g.26467411C= | CA1239818479 | OTOF | c.4181G= (p.Gly1394=) c.1880G= (p.Gly627=) c.1940G= (p.Gly647=) c.2111G= (p.Gly704=) c.4166G= (p.Gly1389=) c.4226G= (p.Gly1409=) c.4121G= (p.Gly1374=) | |
| 2 | g.26467411C>G | CA346137275 | OTOF | c.4181G>C (p.Gly1394Ala) c.1880G>C (p.Gly627Ala) c.1940G>C (p.Gly647Ala) c.2111G>C (p.Gly704Ala) c.4166G>C (p.Gly1389Ala) c.4226G>C (p.Gly1409Ala) c.4121G>C (p.Gly1374Ala) | |
| 2 | g.26467411C>T | CA1563266 | OTOF | c.4181G>A (p.Gly1394Glu) c.1880G>A (p.Gly627Glu) c.1940G>A (p.Gly647Glu) c.2111G>A (p.Gly704Glu) c.4166G>A (p.Gly1389Glu) c.4226G>A (p.Gly1409Glu) c.4121G>A (p.Gly1374Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26467412C>A | CA346137276 | OTOF | c.4180G>T (p.Gly1394Trp) c.1879G>T (p.Gly627Trp) c.1939G>T (p.Gly647Trp) c.2110G>T (p.Gly704Trp) c.4165G>T (p.Gly1389Trp) c.4225G>T (p.Gly1409Trp) c.4120G>T (p.Gly1374Trp) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26467412C= | CA1239818480 | OTOF | c.4180G= (p.Gly1394=) c.1879G= (p.Gly627=) c.1939G= (p.Gly647=) c.2110G= (p.Gly704=) c.4165G= (p.Gly1389=) c.4225G= (p.Gly1409=) c.4120G= (p.Gly1374=) | |
| 2 | g.26467412C>G | CA346137277 | OTOF | c.4180G>C (p.Gly1394Arg) c.1879G>C (p.Gly627Arg) c.1939G>C (p.Gly647Arg) c.2110G>C (p.Gly704Arg) c.4165G>C (p.Gly1389Arg) c.4225G>C (p.Gly1409Arg) c.4120G>C (p.Gly1374Arg) | |
| 2 | g.26467412C>T | CA346137278 | OTOF | c.4180G>A (p.Gly1394Arg) c.1879G>A (p.Gly627Arg) c.1939G>A (p.Gly647Arg) c.2110G>A (p.Gly704Arg) c.4165G>A (p.Gly1389Arg) c.4225G>A (p.Gly1409Arg) c.4120G>A (p.Gly1374Arg) | gnomAD v4 |
| 2 | g.26467413C>A | CA346137279 | OTOF | c.4179G>T (p.Gln1393His) c.1878G>T (p.Gln626His) c.1938G>T (p.Gln646His) c.2109G>T (p.Gln703His) c.4164G>T (p.Gln1388His) c.4224G>T (p.Gln1408His) c.4119G>T (p.Gln1373His) | |
| 2 | g.26467413C= | CA1239818482 | OTOF | c.4179G= (p.Gln1393=) c.1878G= (p.Gln626=) c.1938G= (p.Gln646=) c.2109G= (p.Gln703=) c.4164G= (p.Gln1388=) c.4224G= (p.Gln1408=) c.4119G= (p.Gln1373=) | |
| 2 | g.26467413C>G | CA346137280 | OTOF | c.4179G>C (p.Gln1393His) c.1878G>C (p.Gln626His) c.1938G>C (p.Gln646His) c.2109G>C (p.Gln703His) c.4164G>C (p.Gln1388His) c.4224G>C (p.Gln1408His) c.4119G>C (p.Gln1373His) | gnomAD v4 |
| 2 | g.26467413C>T | CA425207414 | OTOF | c.4179G>A (p.Gln1393=) c.1878G>A (p.Gln626=) c.1938G>A (p.Gln646=) c.2109G>A (p.Gln703=) c.4164G>A (p.Gln1388=) c.4224G>A (p.Gln1408=) c.4119G>A (p.Gln1373=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26467414T>A | CA346137283 | OTOF | c.4178A>T (p.Gln1393Leu) c.1877A>T (p.Gln626Leu) c.1937A>T (p.Gln646Leu) c.2108A>T (p.Gln703Leu) c.4163A>T (p.Gln1388Leu) c.4223A>T (p.Gln1408Leu) c.4118A>T (p.Gln1373Leu) | |
| 2 | g.26467414T>C | CA346137282 | OTOF | c.4178A>G (p.Gln1393Arg) c.1877A>G (p.Gln626Arg) c.1937A>G (p.Gln646Arg) c.2108A>G (p.Gln703Arg) c.4163A>G (p.Gln1388Arg) c.4223A>G (p.Gln1408Arg) c.4118A>G (p.Gln1373Arg) | |
| 2 | g.26467414T>G | CA346137281 | OTOF | c.4178A>C (p.Gln1393Pro) c.1877A>C (p.Gln626Pro) c.1937A>C (p.Gln646Pro) c.2108A>C (p.Gln703Pro) c.4163A>C (p.Gln1388Pro) c.4223A>C (p.Gln1408Pro) c.4118A>C (p.Gln1373Pro) | |
| 2 | g.26467415G>A | CA346137284 | OTOF | c.4177C>T (p.Gln1393Ter) c.1876C>T (p.Gln626Ter) c.1936C>T (p.Gln646Ter) c.2107C>T (p.Gln703Ter) c.4162C>T (p.Gln1388Ter) c.4222C>T (p.Gln1408Ter) c.4117C>T (p.Gln1373Ter) | |
| 2 | g.26467415G>C | CA346137285 | OTOF | c.4177C>G (p.Gln1393Glu) c.1876C>G (p.Gln626Glu) c.1936C>G (p.Gln646Glu) c.2107C>G (p.Gln703Glu) c.4162C>G (p.Gln1388Glu) c.4222C>G (p.Gln1408Glu) c.4117C>G (p.Gln1373Glu) | |
| 2 | g.26467415G>T | CA346137286 | OTOF | c.4177C>A (p.Gln1393Lys) c.1876C>A (p.Gln626Lys) c.1936C>A (p.Gln646Lys) c.2107C>A (p.Gln703Lys) c.4162C>A (p.Gln1388Lys) c.4222C>A (p.Gln1408Lys) c.4117C>A (p.Gln1373Lys) | |
| 2 | g.26467416G>A | CA425207416 | OTOF | c.4176C>T (p.Gly1392=) c.1875C>T (p.Gly625=) c.1935C>T (p.Gly645=) c.2106C>T (p.Gly702=) c.4161C>T (p.Gly1387=) c.4221C>T (p.Gly1407=) c.4116C>T (p.Gly1372=) | dbSNP gnomAD v4 |
| 2 | g.26467416G>C | CA425207415 | OTOF | c.4176C>G (p.Gly1392=) c.1875C>G (p.Gly625=) c.1935C>G (p.Gly645=) c.2106C>G (p.Gly702=) c.4161C>G (p.Gly1387=) c.4221C>G (p.Gly1407=) c.4116C>G (p.Gly1372=) | |
| 2 | g.26467416G= | CA1239818483 | OTOF | c.4176C= (p.Gly1392=) c.1875C= (p.Gly625=) c.1935C= (p.Gly645=) c.2106C= (p.Gly702=) c.4161C= (p.Gly1387=) c.4221C= (p.Gly1407=) c.4116C= (p.Gly1372=) | |
| 2 | g.26467416G>T | CA425207417 | OTOF | c.4176C>A (p.Gly1392=) c.1875C>A (p.Gly625=) c.1935C>A (p.Gly645=) c.2106C>A (p.Gly702=) c.4161C>A (p.Gly1387=) c.4221C>A (p.Gly1407=) c.4116C>A (p.Gly1372=) | |
| 2 | g.26467417C>A | CA346137287 | OTOF | c.4175G>T (p.Gly1392Val) c.1874G>T (p.Gly625Val) c.1934G>T (p.Gly645Val) c.2105G>T (p.Gly702Val) c.4160G>T (p.Gly1387Val) c.4220G>T (p.Gly1407Val) c.4115G>T (p.Gly1372Val) | |
| 2 | g.26467417C>G | CA346137288 | OTOF | c.4175G>C (p.Gly1392Ala) c.1874G>C (p.Gly625Ala) c.1934G>C (p.Gly645Ala) c.2105G>C (p.Gly702Ala) c.4160G>C (p.Gly1387Ala) c.4220G>C (p.Gly1407Ala) c.4115G>C (p.Gly1372Ala) | |
| 2 | g.26467417C>T | CA346137289 | OTOF | c.4175G>A (p.Gly1392Asp) c.1874G>A (p.Gly625Asp) c.1934G>A (p.Gly645Asp) c.2105G>A (p.Gly702Asp) c.4160G>A (p.Gly1387Asp) c.4220G>A (p.Gly1407Asp) c.4115G>A (p.Gly1372Asp) | gnomAD v4 |
| 2 | g.26467418C>A | CA346137290 | OTOF | c.4174G>T (p.Gly1392Cys) c.1873G>T (p.Gly625Cys) c.1933G>T (p.Gly645Cys) c.2104G>T (p.Gly702Cys) c.4159G>T (p.Gly1387Cys) c.4219G>T (p.Gly1407Cys) c.4114G>T (p.Gly1372Cys) | |
| 2 | g.26467418C= | CA1239818485 | OTOF | c.4174G= (p.Gly1392=) c.1873G= (p.Gly625=) c.1933G= (p.Gly645=) c.2104G= (p.Gly702=) c.4159G= (p.Gly1387=) c.4219G= (p.Gly1407=) c.4114G= (p.Gly1372=) | |
| 2 | g.26467418C>G | CA1563267 | OTOF | c.4174G>C (p.Gly1392Arg) c.1873G>C (p.Gly625Arg) c.1933G>C (p.Gly645Arg) c.2104G>C (p.Gly702Arg) c.4159G>C (p.Gly1387Arg) c.4219G>C (p.Gly1407Arg) c.4114G>C (p.Gly1372Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26467418C>T | CA346137291 | OTOF | c.4174G>A (p.Gly1392Ser) c.1873G>A (p.Gly625Ser) c.1933G>A (p.Gly645Ser) c.2104G>A (p.Gly702Ser) c.4159G>A (p.Gly1387Ser) c.4219G>A (p.Gly1407Ser) c.4114G>A (p.Gly1372Ser) | COSMIC COSMIC COSMIC |
| 2 | g.26467419A>C | CA425207419 | OTOF | c.4173T>G (p.Ser1391=) c.1872T>G (p.Ser624=) c.1932T>G (p.Ser644=) c.2103T>G (p.Ser701=) c.4158T>G (p.Ser1386=) c.4218T>G (p.Ser1406=) c.4113T>G (p.Ser1371=) | |
| 2 | g.26467419A>G | CA425207420 | OTOF | c.4173T>C (p.Ser1391=) c.1872T>C (p.Ser624=) c.1932T>C (p.Ser644=) c.2103T>C (p.Ser701=) c.4158T>C (p.Ser1386=) c.4218T>C (p.Ser1406=) c.4113T>C (p.Ser1371=) | |
| 2 | g.26467419A>T | CA425207421 | OTOF | c.4173T>A (p.Ser1391=) c.1872T>A (p.Ser624=) c.1932T>A (p.Ser644=) c.2103T>A (p.Ser701=) c.4158T>A (p.Ser1386=) c.4218T>A (p.Ser1406=) c.4113T>A (p.Ser1371=) | |
| 2 | g.26467420G>A | CA346137292 | OTOF | c.4172C>T (p.Ser1391Phe) c.1871C>T (p.Ser624Phe) c.1931C>T (p.Ser644Phe) c.2102C>T (p.Ser701Phe) c.4157C>T (p.Ser1386Phe) c.4217C>T (p.Ser1406Phe) c.4112C>T (p.Ser1371Phe) | |
| 2 | g.26467420G>C | CA346137293 | OTOF | c.4172C>G (p.Ser1391Cys) c.1871C>G (p.Ser624Cys) c.1931C>G (p.Ser644Cys) c.2102C>G (p.Ser701Cys) c.4157C>G (p.Ser1386Cys) c.4217C>G (p.Ser1406Cys) c.4112C>G (p.Ser1371Cys) | |
| 2 | g.26467420G>T | CA346137294 | OTOF | c.4172C>A (p.Ser1391Tyr) c.1871C>A (p.Ser624Tyr) c.1931C>A (p.Ser644Tyr) c.2102C>A (p.Ser701Tyr) c.4157C>A (p.Ser1386Tyr) c.4217C>A (p.Ser1406Tyr) c.4112C>A (p.Ser1371Tyr) | |
| 2 | g.26467421A= | CA1239818487 | OTOF | c.4171T= (p.Ser1391=) c.1870T= (p.Ser624=) c.1930T= (p.Ser644=) c.2101T= (p.Ser701=) c.4156T= (p.Ser1386=) c.4216T= (p.Ser1406=) c.4111T= (p.Ser1371=) | |
| 2 | g.26467421A>C | CA346137296 | OTOF | c.4171T>G (p.Ser1391Ala) c.1870T>G (p.Ser624Ala) c.1930T>G (p.Ser644Ala) c.2101T>G (p.Ser701Ala) c.4156T>G (p.Ser1386Ala) c.4216T>G (p.Ser1406Ala) c.4111T>G (p.Ser1371Ala) | |
| 2 | g.26467421A>G | CA1563268 | OTOF | c.4171T>C (p.Ser1391Pro) c.1870T>C (p.Ser624Pro) c.1930T>C (p.Ser644Pro) c.2101T>C (p.Ser701Pro) c.4156T>C (p.Ser1386Pro) c.4216T>C (p.Ser1406Pro) c.4111T>C (p.Ser1371Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26467421A>T | CA346137295 | OTOF | c.4171T>A (p.Ser1391Thr) c.1870T>A (p.Ser624Thr) c.1930T>A (p.Ser644Thr) c.2101T>A (p.Ser701Thr) c.4156T>A (p.Ser1386Thr) c.4216T>A (p.Ser1406Thr) c.4111T>A (p.Ser1371Thr) | |
| 2 | g.26467422G>A | CA425207422 | OTOF | c.4170C>T (p.Gly1390=) c.1869C>T (p.Gly623=) c.1929C>T (p.Gly643=) c.2100C>T (p.Gly700=) c.4155C>T (p.Gly1385=) c.4215C>T (p.Gly1405=) c.4110C>T (p.Gly1370=) | |
| 2 | g.26467422G>C | CA425207423 | OTOF | c.4170C>G (p.Gly1390=) c.1869C>G (p.Gly623=) c.1929C>G (p.Gly643=) c.2100C>G (p.Gly700=) c.4155C>G (p.Gly1385=) c.4215C>G (p.Gly1405=) c.4110C>G (p.Gly1370=) | |
| 2 | g.26467422G>T | CA425207424 | OTOF | c.4170C>A (p.Gly1390=) c.1869C>A (p.Gly623=) c.1929C>A (p.Gly643=) c.2100C>A (p.Gly700=) c.4155C>A (p.Gly1385=) c.4215C>A (p.Gly1405=) c.4110C>A (p.Gly1370=) | |
| 2 | g.26467423C>A | CA346137297 | OTOF | c.4169G>T (p.Gly1390Val) c.1868G>T (p.Gly623Val) c.1928G>T (p.Gly643Val) c.2099G>T (p.Gly700Val) c.4154G>T (p.Gly1385Val) c.4214G>T (p.Gly1405Val) c.4109G>T (p.Gly1370Val) | |
| 2 | g.26467423C>G | CA346137298 | OTOF | c.4169G>C (p.Gly1390Ala) c.1868G>C (p.Gly623Ala) c.1928G>C (p.Gly643Ala) c.2099G>C (p.Gly700Ala) c.4154G>C (p.Gly1385Ala) c.4214G>C (p.Gly1405Ala) c.4109G>C (p.Gly1370Ala) | |
| 2 | g.26467423C>T | CA346137299 | OTOF | c.4169G>A (p.Gly1390Asp) c.1868G>A (p.Gly623Asp) c.1928G>A (p.Gly643Asp) c.2099G>A (p.Gly700Asp) c.4154G>A (p.Gly1385Asp) c.4214G>A (p.Gly1405Asp) c.4109G>A (p.Gly1370Asp) | |
| 2 | g.26467424C>A | CA346137300 | OTOF | c.4168G>T (p.Gly1390Cys) c.1867G>T (p.Gly623Cys) c.1927G>T (p.Gly643Cys) c.2098G>T (p.Gly700Cys) c.4153G>T (p.Gly1385Cys) c.4213G>T (p.Gly1405Cys) c.4108G>T (p.Gly1370Cys) | |
| 2 | g.26467424C>G | CA346137301 | OTOF | c.4168G>C (p.Gly1390Arg) c.1867G>C (p.Gly623Arg) c.1927G>C (p.Gly643Arg) c.2098G>C (p.Gly700Arg) c.4153G>C (p.Gly1385Arg) c.4213G>C (p.Gly1405Arg) c.4108G>C (p.Gly1370Arg) | |
| 2 | g.26467424C>T | CA346137302 | OTOF | c.4168G>A (p.Gly1390Ser) c.1867G>A (p.Gly623Ser) c.1927G>A (p.Gly643Ser) c.2098G>A (p.Gly700Ser) c.4153G>A (p.Gly1385Ser) c.4213G>A (p.Gly1405Ser) c.4108G>A (p.Gly1370Ser) | gnomAD v4 |
| 2 | g.26467424_26467427dup | CA2576699133 | OTOF | c.4165_4168dup (p.Gly1390ValfsTer18) c.1864_1867dup (p.Gly623ValfsTer18) c.1924_1927dup (p.Gly643ValfsTer18) c.2095_2098dup (p.Gly700ValfsTer18) c.4150_4153dup (p.Gly1385ValfsTer18) c.4210_4213dup (p.Gly1405ValfsTer18) c.4105_4108dup (p.Gly1370ValfsTer18) | |
| 2 | g.26467425A>C | CA425207428 | OTOF | c.4167T>G (p.Ser1389=) c.1866T>G (p.Ser622=) c.1926T>G (p.Ser642=) c.2097T>G (p.Ser699=) c.4152T>G (p.Ser1384=) c.4212T>G (p.Ser1404=) c.4107T>G (p.Ser1369=) | |
| 2 | g.26467425A>G | CA425207429 | OTOF | c.4167T>C (p.Ser1389=) c.1866T>C (p.Ser622=) c.1926T>C (p.Ser642=) c.2097T>C (p.Ser699=) c.4152T>C (p.Ser1384=) c.4212T>C (p.Ser1404=) c.4107T>C (p.Ser1369=) | |
| 2 | g.26467425A>T | CA425207430 | OTOF | c.4167T>A (p.Ser1389=) c.1866T>A (p.Ser622=) c.1926T>A (p.Ser642=) c.2097T>A (p.Ser699=) c.4152T>A (p.Ser1384=) c.4212T>A (p.Ser1404=) c.4107T>A (p.Ser1369=) | |
| 2 | g.26467426G>A | CA346137305 | OTOF | c.4166C>T (p.Ser1389Phe) c.1865C>T (p.Ser622Phe) c.1925C>T (p.Ser642Phe) c.2096C>T (p.Ser699Phe) c.4151C>T (p.Ser1384Phe) c.4211C>T (p.Ser1404Phe) c.4106C>T (p.Ser1369Phe) | gnomAD v4 |
| 2 | g.26467426G>C | CA346137303 | OTOF | c.4166C>G (p.Ser1389Cys) c.1865C>G (p.Ser622Cys) c.1925C>G (p.Ser642Cys) c.2096C>G (p.Ser699Cys) c.4151C>G (p.Ser1384Cys) c.4211C>G (p.Ser1404Cys) c.4106C>G (p.Ser1369Cys) | gnomAD v4 |
| 2 | g.26467426G>T | CA346137304 | OTOF | c.4166C>A (p.Ser1389Tyr) c.1865C>A (p.Ser622Tyr) c.1925C>A (p.Ser642Tyr) c.2096C>A (p.Ser699Tyr) c.4151C>A (p.Ser1384Tyr) c.4211C>A (p.Ser1404Tyr) c.4106C>A (p.Ser1369Tyr) | |
| 2 | g.26467427A= | CA1239818489 | OTOF | c.4165T= (p.Ser1389=) c.1864T= (p.Ser622=) c.1924T= (p.Ser642=) c.2095T= (p.Ser699=) c.4150T= (p.Ser1384=) c.4210T= (p.Ser1404=) c.4105T= (p.Ser1369=) | |
| 2 | g.26467427A>C | CA346137306 | OTOF | c.4165T>G (p.Ser1389Ala) c.1864T>G (p.Ser622Ala) c.1924T>G (p.Ser642Ala) c.2095T>G (p.Ser699Ala) c.4150T>G (p.Ser1384Ala) c.4210T>G (p.Ser1404Ala) c.4105T>G (p.Ser1369Ala) | |
| 2 | g.26467427A>G | CA346137307 | OTOF | c.4165T>C (p.Ser1389Pro) c.1864T>C (p.Ser622Pro) c.1924T>C (p.Ser642Pro) c.2095T>C (p.Ser699Pro) c.4150T>C (p.Ser1384Pro) c.4210T>C (p.Ser1404Pro) c.4105T>C (p.Ser1369Pro) | dbSNP |
| 2 | g.26467427A>T | CA346137308 | OTOF | c.4165T>A (p.Ser1389Thr) c.1864T>A (p.Ser622Thr) c.1924T>A (p.Ser642Thr) c.2095T>A (p.Ser699Thr) c.4150T>A (p.Ser1384Thr) c.4210T>A (p.Ser1404Thr) c.4105T>A (p.Ser1369Thr) | |
| 2 | g.26467428G>A | CA425207432 | OTOF | c.4164C>T (p.Ser1388=) c.1863C>T (p.Ser621=) c.1923C>T (p.Ser641=) c.2094C>T (p.Ser698=) c.4149C>T (p.Ser1383=) c.4209C>T (p.Ser1403=) c.4104C>T (p.Ser1368=) | |
| 2 | g.26467428G>C | CA346137309 | OTOF | c.4164C>G (p.Ser1388Arg) c.1863C>G (p.Ser621Arg) c.1923C>G (p.Ser641Arg) c.2094C>G (p.Ser698Arg) c.4149C>G (p.Ser1383Arg) c.4209C>G (p.Ser1403Arg) c.4104C>G (p.Ser1368Arg) | |
| 2 | g.26467428G>T | CA346137310 | OTOF | c.4164C>A (p.Ser1388Arg) c.1863C>A (p.Ser621Arg) c.1923C>A (p.Ser641Arg) c.2094C>A (p.Ser698Arg) c.4149C>A (p.Ser1383Arg) c.4209C>A (p.Ser1403Arg) c.4104C>A (p.Ser1368Arg) | |
| 2 | g.26467429C>A | CA346137311 | OTOF | c.4163G>T (p.Ser1388Ile) c.1862G>T (p.Ser621Ile) c.1922G>T (p.Ser641Ile) c.2093G>T (p.Ser698Ile) c.4148G>T (p.Ser1383Ile) c.4208G>T (p.Ser1403Ile) c.4103G>T (p.Ser1368Ile) | |
| 2 | g.26467429C= | CA1239818491 | OTOF | c.4163G= (p.Ser1388=) c.1862G= (p.Ser621=) c.1922G= (p.Ser641=) c.2093G= (p.Ser698=) c.4148G= (p.Ser1383=) c.4208G= (p.Ser1403=) c.4103G= (p.Ser1368=) | |
| 2 | g.26467429C>G | CA346137313 | OTOF | c.4163G>C (p.Ser1388Thr) c.1862G>C (p.Ser621Thr) c.1922G>C (p.Ser641Thr) c.2093G>C (p.Ser698Thr) c.4148G>C (p.Ser1383Thr) c.4208G>C (p.Ser1403Thr) c.4103G>C (p.Ser1368Thr) | dbSNP |
| 2 | g.26467429C>T | CA346137312 | OTOF | c.4163G>A (p.Ser1388Asn) c.1862G>A (p.Ser621Asn) c.1922G>A (p.Ser641Asn) c.2093G>A (p.Ser698Asn) c.4148G>A (p.Ser1383Asn) c.4208G>A (p.Ser1403Asn) c.4103G>A (p.Ser1368Asn) | gnomAD v4 |
| 2 | g.26467430T>A | CA346137314 | OTOF | c.4162A>T (p.Ser1388Cys) c.1861A>T (p.Ser621Cys) c.1921A>T (p.Ser641Cys) c.2092A>T (p.Ser698Cys) c.4147A>T (p.Ser1383Cys) c.4207A>T (p.Ser1403Cys) c.4102A>T (p.Ser1368Cys) | |
| 2 | g.26467430T>C | CA346137315 | OTOF | c.4162A>G (p.Ser1388Gly) c.1861A>G (p.Ser621Gly) c.1921A>G (p.Ser641Gly) c.2092A>G (p.Ser698Gly) c.4147A>G (p.Ser1383Gly) c.4207A>G (p.Ser1403Gly) c.4102A>G (p.Ser1368Gly) | dbSNP |
| 2 | g.26467430T>G | CA346137316 | OTOF | c.4162A>C (p.Ser1388Arg) c.1861A>C (p.Ser621Arg) c.1921A>C (p.Ser641Arg) c.2092A>C (p.Ser698Arg) c.4147A>C (p.Ser1383Arg) c.4207A>C (p.Ser1403Arg) c.4102A>C (p.Ser1368Arg) | |
| 2 | g.26467430T= | CA1239818493 | OTOF | c.4162A= (p.Ser1388=) c.1861A= (p.Ser621=) c.1921A= (p.Ser641=) c.2092A= (p.Ser698=) c.4147A= (p.Ser1383=) c.4207A= (p.Ser1403=) c.4102A= (p.Ser1368=) | |
| 2 | g.26467431C>A | CA346137317 | OTOF | c.4161G>T (p.Gln1387His) c.1860G>T (p.Gln620His) c.1920G>T (p.Gln640His) c.2091G>T (p.Gln697His) c.4146G>T (p.Gln1382His) c.4206G>T (p.Gln1402His) c.4101G>T (p.Gln1367His) | |
| 2 | g.26467431C>G | CA346137318 | OTOF | c.4161G>C (p.Gln1387His) c.1860G>C (p.Gln620His) c.1920G>C (p.Gln640His) c.2091G>C (p.Gln697His) c.4146G>C (p.Gln1382His) c.4206G>C (p.Gln1402His) c.4101G>C (p.Gln1367His) | COSMIC COSMIC COSMIC |
| 2 | g.26467431C>T | CA425207436 | OTOF | c.4161G>A (p.Gln1387=) c.1860G>A (p.Gln620=) c.1920G>A (p.Gln640=) c.2091G>A (p.Gln697=) c.4146G>A (p.Gln1382=) c.4206G>A (p.Gln1402=) c.4101G>A (p.Gln1367=) | |
| 2 | g.26467432T>A | CA346137319 | OTOF | c.4160A>T (p.Gln1387Leu) c.1859A>T (p.Gln620Leu) c.1919A>T (p.Gln640Leu) c.2090A>T (p.Gln697Leu) c.4145A>T (p.Gln1382Leu) c.4205A>T (p.Gln1402Leu) c.4100A>T (p.Gln1367Leu) | |
| 2 | g.26467432T>C | CA346137320 | OTOF | c.4160A>G (p.Gln1387Arg) c.1859A>G (p.Gln620Arg) c.1919A>G (p.Gln640Arg) c.2090A>G (p.Gln697Arg) c.4145A>G (p.Gln1382Arg) c.4205A>G (p.Gln1402Arg) c.4100A>G (p.Gln1367Arg) | |
| 2 | g.26467432T>G | CA346137321 | OTOF | c.4160A>C (p.Gln1387Pro) c.1859A>C (p.Gln620Pro) c.1919A>C (p.Gln640Pro) c.2090A>C (p.Gln697Pro) c.4145A>C (p.Gln1382Pro) c.4205A>C (p.Gln1402Pro) c.4100A>C (p.Gln1367Pro) | |
| 2 | g.26467433G>A | CA346137322 | OTOF | c.4159C>T (p.Gln1387Ter) c.1858C>T (p.Gln620Ter) c.1918C>T (p.Gln640Ter) c.2089C>T (p.Gln697Ter) c.4144C>T (p.Gln1382Ter) c.4204C>T (p.Gln1402Ter) c.4099C>T (p.Gln1367Ter) | |
| 2 | g.26467433G>C | CA346137323 | OTOF | c.4159C>G (p.Gln1387Glu) c.1858C>G (p.Gln620Glu) c.1918C>G (p.Gln640Glu) c.2089C>G (p.Gln697Glu) c.4144C>G (p.Gln1382Glu) c.4204C>G (p.Gln1402Glu) c.4099C>G (p.Gln1367Glu) | |
| 2 | g.26467433G>T | CA346137324 | OTOF | c.4159C>A (p.Gln1387Lys) c.1858C>A (p.Gln620Lys) c.1918C>A (p.Gln640Lys) c.2089C>A (p.Gln697Lys) c.4144C>A (p.Gln1382Lys) c.4204C>A (p.Gln1402Lys) c.4099C>A (p.Gln1367Lys) | |
| 2 | g.26467434A= | CA1239818495 | OTOF | c.4158T= (p.Thr1386=) c.1857T= (p.Thr619=) c.1917T= (p.Thr639=) c.2088T= (p.Thr696=) c.4143T= (p.Thr1381=) c.4203T= (p.Thr1401=) c.4098T= (p.Thr1366=) | |
| 2 | g.26467434A>C | CA425207437 | OTOF | c.4158T>G (p.Thr1386=) c.1857T>G (p.Thr619=) c.1917T>G (p.Thr639=) c.2088T>G (p.Thr696=) c.4143T>G (p.Thr1381=) c.4203T>G (p.Thr1401=) c.4098T>G (p.Thr1366=) | |
| 2 | g.26467434A>G | CA425207438 | OTOF | c.4158T>C (p.Thr1386=) c.1857T>C (p.Thr619=) c.1917T>C (p.Thr639=) c.2088T>C (p.Thr696=) c.4143T>C (p.Thr1381=) c.4203T>C (p.Thr1401=) c.4098T>C (p.Thr1366=) | dbSNP |
| 2 | g.26467434A>T | CA425207439 | OTOF | c.4158T>A (p.Thr1386=) c.1857T>A (p.Thr619=) c.1917T>A (p.Thr639=) c.2088T>A (p.Thr696=) c.4143T>A (p.Thr1381=) c.4203T>A (p.Thr1401=) c.4098T>A (p.Thr1366=) | |
| 2 | g.26467435G>A | CA345120 | OTOF | c.4157C>T (p.Thr1386Ile) c.1856C>T (p.Thr619Ile) c.1916C>T (p.Thr639Ile) c.2087C>T (p.Thr696Ile) c.4142C>T (p.Thr1381Ile) c.4202C>T (p.Thr1401Ile) c.4097C>T (p.Thr1366Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26467435G>C | CA1563269 | OTOF | c.4157C>G (p.Thr1386Ser) c.1856C>G (p.Thr619Ser) c.1916C>G (p.Thr639Ser) c.2087C>G (p.Thr696Ser) c.4142C>G (p.Thr1381Ser) c.4202C>G (p.Thr1401Ser) c.4097C>G (p.Thr1366Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26467435G= | CA1239818497 | OTOF | c.4157C= (p.Thr1386=) c.1856C= (p.Thr619=) c.1916C= (p.Thr639=) c.2087C= (p.Thr696=) c.4142C= (p.Thr1381=) c.4202C= (p.Thr1401=) c.4097C= (p.Thr1366=) | |
| 2 | g.26467435G>T | CA346137325 | OTOF | c.4157C>A (p.Thr1386Asn) c.1856C>A (p.Thr619Asn) c.1916C>A (p.Thr639Asn) c.2087C>A (p.Thr696Asn) c.4142C>A (p.Thr1381Asn) c.4202C>A (p.Thr1401Asn) c.4097C>A (p.Thr1366Asn) | gnomAD v4 |
| 2 | g.26467436T>A | CA346137327 | OTOF | c.4156A>T (p.Thr1386Ser) c.1855A>T (p.Thr619Ser) c.1915A>T (p.Thr639Ser) c.2086A>T (p.Thr696Ser) c.4141A>T (p.Thr1381Ser) c.4201A>T (p.Thr1401Ser) c.4096A>T (p.Thr1366Ser) | |
| 2 | g.26467436T>C | CA346137326 | OTOF | c.4156A>G (p.Thr1386Ala) c.1855A>G (p.Thr619Ala) c.1915A>G (p.Thr639Ala) c.2086A>G (p.Thr696Ala) c.4141A>G (p.Thr1381Ala) c.4201A>G (p.Thr1401Ala) c.4096A>G (p.Thr1366Ala) | |
| 2 | g.26467436T>G | CA346137328 | OTOF | c.4156A>C (p.Thr1386Pro) c.1855A>C (p.Thr619Pro) c.1915A>C (p.Thr639Pro) c.2086A>C (p.Thr696Pro) c.4141A>C (p.Thr1381Pro) c.4201A>C (p.Thr1401Pro) c.4096A>C (p.Thr1366Pro) | |
| 2 | g.26467437T>A | CA346137329 | OTOF | c.4155A>T (p.Lys1385Asn) c.1854A>T (p.Lys618Asn) c.1914A>T (p.Lys638Asn) c.2085A>T (p.Lys695Asn) c.4140A>T (p.Lys1380Asn) c.4200A>T (p.Lys1400Asn) c.4095A>T (p.Lys1365Asn) | |
| 2 | g.26467437T>C | CA425207442 | OTOF | c.4155A>G (p.Lys1385=) c.1854A>G (p.Lys618=) c.1914A>G (p.Lys638=) c.2085A>G (p.Lys695=) c.4140A>G (p.Lys1380=) c.4200A>G (p.Lys1400=) c.4095A>G (p.Lys1365=) | |
| 2 | g.26467437T>G | CA346137330 | OTOF | c.4155A>C (p.Lys1385Asn) c.1854A>C (p.Lys618Asn) c.1914A>C (p.Lys638Asn) c.2085A>C (p.Lys695Asn) c.4140A>C (p.Lys1380Asn) c.4200A>C (p.Lys1400Asn) c.4095A>C (p.Lys1365Asn) | |
| 2 | g.26467437_26467440delinsTTTC | CA1239818501 | OTOF | c.4152_4155delinsGAAA (p.Lys1384=) c.1851_1854delinsGAAA (p.Lys617=) c.1911_1914delinsGAAA (p.Lys637=) c.2082_2085delinsGAAA (p.Lys694=) c.4137_4140delinsGAAA (p.Lys1379=) c.4197_4200delinsGAAA (p.Lys1399=) c.4092_4095delinsGAAA (p.Lys1364=) | |
| 2 | g.26467438T>A | CA346137331 | OTOF | c.4154A>T (p.Lys1385Ile) c.1853A>T (p.Lys618Ile) c.1913A>T (p.Lys638Ile) c.2084A>T (p.Lys695Ile) c.4139A>T (p.Lys1380Ile) c.4199A>T (p.Lys1400Ile) c.4094A>T (p.Lys1365Ile) | |
| 2 | g.26467438T>C | CA346137332 | OTOF | c.4154A>G (p.Lys1385Arg) c.1853A>G (p.Lys618Arg) c.1913A>G (p.Lys638Arg) c.2084A>G (p.Lys695Arg) c.4139A>G (p.Lys1380Arg) c.4199A>G (p.Lys1400Arg) c.4094A>G (p.Lys1365Arg) | |
| 2 | g.26467438T>G | CA346137333 | OTOF | c.4154A>C (p.Lys1385Thr) c.1853A>C (p.Lys618Thr) c.1913A>C (p.Lys638Thr) c.2084A>C (p.Lys695Thr) c.4139A>C (p.Lys1380Thr) c.4199A>C (p.Lys1400Thr) c.4094A>C (p.Lys1365Thr) | |
| 2 | g.26467448_26467450dup | CA1239818503 | OTOF | c.4152_4154dup (p.Lys1385_Thr1386insLys) c.1851_1853dup (p.Lys618_Thr619insLys) c.1911_1913dup (p.Lys638_Thr639insLys) c.2082_2084dup (p.Lys695_Thr696insLys) c.4137_4139dup (p.Lys1380_Thr1381insLys) c.4197_4199dup (p.Lys1400_Thr1401insLys) c.4092_4094dup (p.Lys1365_Thr1366insLys) | dbSNP |
| 2 | g.26467448_26467450del | CA1563270 | OTOF | c.4152_4154del (p.Lys1385del) c.1851_1853del (p.Lys618del) c.1911_1913del (p.Lys638del) c.2082_2084del (p.Lys695del) c.4137_4139del (p.Lys1380del) c.4197_4199del (p.Lys1400del) c.4092_4094del (p.Lys1365del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 2 | g.26467439T>A | CA346137336 | OTOF | c.4153A>T (p.Lys1385Ter) c.1852A>T (p.Lys618Ter) c.1912A>T (p.Lys638Ter) c.2083A>T (p.Lys695Ter) c.4138A>T (p.Lys1380Ter) c.4198A>T (p.Lys1400Ter) c.4093A>T (p.Lys1365Ter) | |
| 2 | g.26467439T>C | CA346137334 | OTOF | c.4153A>G (p.Lys1385Glu) c.1852A>G (p.Lys618Glu) c.1912A>G (p.Lys638Glu) c.2083A>G (p.Lys695Glu) c.4138A>G (p.Lys1380Glu) c.4198A>G (p.Lys1400Glu) c.4093A>G (p.Lys1365Glu) | |
| 2 | g.26467439T>G | CA346137335 | OTOF | c.4153A>C (p.Lys1385Gln) c.1852A>C (p.Lys618Gln) c.1912A>C (p.Lys638Gln) c.2083A>C (p.Lys695Gln) c.4138A>C (p.Lys1380Gln) c.4198A>C (p.Lys1400Gln) c.4093A>C (p.Lys1365Gln) | |
| 2 | g.26467440C>A | CA346137337 | OTOF | c.4152G>T (p.Lys1384Asn) c.1851G>T (p.Lys617Asn) c.1911G>T (p.Lys637Asn) c.2082G>T (p.Lys694Asn) c.4137G>T (p.Lys1379Asn) c.4197G>T (p.Lys1399Asn) c.4092G>T (p.Lys1364Asn) | |
| 2 | g.26467440C>G | CA346137338 | OTOF | c.4152G>C (p.Lys1384Asn) c.1851G>C (p.Lys617Asn) c.1911G>C (p.Lys637Asn) c.2082G>C (p.Lys694Asn) c.4137G>C (p.Lys1379Asn) c.4197G>C (p.Lys1399Asn) c.4092G>C (p.Lys1364Asn) | |
| 2 | g.26467440C>T | CA425207443 | OTOF | c.4152G>A (p.Lys1384=) c.1851G>A (p.Lys617=) c.1911G>A (p.Lys637=) c.2082G>A (p.Lys694=) c.4137G>A (p.Lys1379=) c.4197G>A (p.Lys1399=) c.4092G>A (p.Lys1364=) | |
| 2 | g.26467441T>A | CA346137339 | OTOF | c.4151A>T (p.Lys1384Met) c.1850A>T (p.Lys617Met) c.1910A>T (p.Lys637Met) c.2081A>T (p.Lys694Met) c.4136A>T (p.Lys1379Met) c.4196A>T (p.Lys1399Met) c.4091A>T (p.Lys1364Met) | |
| 2 | g.26467441T>C | CA346137340 | OTOF | c.4151A>G (p.Lys1384Arg) c.1850A>G (p.Lys617Arg) c.1910A>G (p.Lys637Arg) c.2081A>G (p.Lys694Arg) c.4136A>G (p.Lys1379Arg) c.4196A>G (p.Lys1399Arg) c.4091A>G (p.Lys1364Arg) | |
| 2 | g.26467441T>G | CA346137341 | OTOF | c.4151A>C (p.Lys1384Thr) c.1850A>C (p.Lys617Thr) c.1910A>C (p.Lys637Thr) c.2081A>C (p.Lys694Thr) c.4136A>C (p.Lys1379Thr) c.4196A>C (p.Lys1399Thr) c.4091A>C (p.Lys1364Thr) | |
| 2 | g.26467442T>A | CA346137342 | OTOF | c.4150A>T (p.Lys1384Ter) c.1849A>T (p.Lys617Ter) c.1909A>T (p.Lys637Ter) c.2080A>T (p.Lys694Ter) c.4135A>T (p.Lys1379Ter) c.4195A>T (p.Lys1399Ter) c.4090A>T (p.Lys1364Ter) | |
| 2 | g.26467442T>C | CA346137344 | OTOF | c.4150A>G (p.Lys1384Glu) c.1849A>G (p.Lys617Glu) c.1909A>G (p.Lys637Glu) c.2080A>G (p.Lys694Glu) c.4135A>G (p.Lys1379Glu) c.4195A>G (p.Lys1399Glu) c.4090A>G (p.Lys1364Glu) | |
| 2 | g.26467442T>G | CA346137343 | OTOF | c.4150A>C (p.Lys1384Gln) c.1849A>C (p.Lys617Gln) c.1909A>C (p.Lys637Gln) c.2080A>C (p.Lys694Gln) c.4135A>C (p.Lys1379Gln) c.4195A>C (p.Lys1399Gln) c.4090A>C (p.Lys1364Gln) | |
| 2 | g.26467443C>A | CA346137345 | OTOF | c.4149G>T (p.Lys1383Asn) c.1848G>T (p.Lys616Asn) c.1908G>T (p.Lys636Asn) c.2079G>T (p.Lys693Asn) c.4134G>T (p.Lys1378Asn) c.4194G>T (p.Lys1398Asn) c.4089G>T (p.Lys1363Asn) | |
| 2 | g.26467443C>G | CA346137346 | OTOF | c.4149G>C (p.Lys1383Asn) c.1848G>C (p.Lys616Asn) c.1908G>C (p.Lys636Asn) c.2079G>C (p.Lys693Asn) c.4134G>C (p.Lys1378Asn) c.4194G>C (p.Lys1398Asn) c.4089G>C (p.Lys1363Asn) | |
| 2 | g.26467443C>T | CA425207447 | OTOF | c.4149G>A (p.Lys1383=) c.1848G>A (p.Lys616=) c.1908G>A (p.Lys636=) c.2079G>A (p.Lys693=) c.4134G>A (p.Lys1378=) c.4194G>A (p.Lys1398=) c.4089G>A (p.Lys1363=) | gnomAD v4 |
| 2 | g.26467444T>A | CA346137347 | OTOF | c.4148A>T (p.Lys1383Met) c.1847A>T (p.Lys616Met) c.1907A>T (p.Lys636Met) c.2078A>T (p.Lys693Met) c.4133A>T (p.Lys1378Met) c.4193A>T (p.Lys1398Met) c.4088A>T (p.Lys1363Met) | |
| 2 | g.26467444T>C | CA346137348 | OTOF | c.4148A>G (p.Lys1383Arg) c.1847A>G (p.Lys616Arg) c.1907A>G (p.Lys636Arg) c.2078A>G (p.Lys693Arg) c.4133A>G (p.Lys1378Arg) c.4193A>G (p.Lys1398Arg) c.4088A>G (p.Lys1363Arg) | |
| 2 | g.26467444T>G | CA346137349 | OTOF | c.4148A>C (p.Lys1383Thr) c.1847A>C (p.Lys616Thr) c.1907A>C (p.Lys636Thr) c.2078A>C (p.Lys693Thr) c.4133A>C (p.Lys1378Thr) c.4193A>C (p.Lys1398Thr) c.4088A>C (p.Lys1363Thr) | |
| 2 | g.26467445T>A | CA346137350 | OTOF | c.4147A>T (p.Lys1383Ter) c.1846A>T (p.Lys616Ter) c.1906A>T (p.Lys636Ter) c.2077A>T (p.Lys693Ter) c.4132A>T (p.Lys1378Ter) c.4192A>T (p.Lys1398Ter) c.4087A>T (p.Lys1363Ter) | |
| 2 | g.26467445T>C | CA1563271 | OTOF | c.4147A>G (p.Lys1383Glu) c.1846A>G (p.Lys616Glu) c.1906A>G (p.Lys636Glu) c.2077A>G (p.Lys693Glu) c.4132A>G (p.Lys1378Glu) c.4192A>G (p.Lys1398Glu) c.4087A>G (p.Lys1363Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26467445T>G | CA346137351 | OTOF | c.4147A>C (p.Lys1383Gln) c.1846A>C (p.Lys616Gln) c.1906A>C (p.Lys636Gln) c.2077A>C (p.Lys693Gln) c.4132A>C (p.Lys1378Gln) c.4192A>C (p.Lys1398Gln) c.4087A>C (p.Lys1363Gln) | |
| 2 | g.26467445T= | CA1239818505 | OTOF | c.4147A= (p.Lys1383=) c.1846A= (p.Lys616=) c.1906A= (p.Lys636=) c.2077A= (p.Lys693=) c.4132A= (p.Lys1378=) c.4192A= (p.Lys1398=) c.4087A= (p.Lys1363=) | |
| 2 | g.26467446C>A | CA1563272 | OTOF | c.4146G>T (p.Lys1382Asn) c.1845G>T (p.Lys615Asn) c.1905G>T (p.Lys635Asn) c.2076G>T (p.Lys692Asn) c.4131G>T (p.Lys1377Asn) c.4191G>T (p.Lys1397Asn) c.4086G>T (p.Lys1362Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26467446C= | CA1239818506 | OTOF | c.4146G= (p.Lys1382=) c.1845G= (p.Lys615=) c.1905G= (p.Lys635=) c.2076G= (p.Lys692=) c.4131G= (p.Lys1377=) c.4191G= (p.Lys1397=) c.4086G= (p.Lys1362=) | |
| 2 | g.26467446C>G | CA346137352 | OTOF | c.4146G>C (p.Lys1382Asn) c.1845G>C (p.Lys615Asn) c.1905G>C (p.Lys635Asn) c.2076G>C (p.Lys692Asn) c.4131G>C (p.Lys1377Asn) c.4191G>C (p.Lys1397Asn) c.4086G>C (p.Lys1362Asn) | |
| 2 | g.26467446C>T | CA425207449 | OTOF | c.4146G>A (p.Lys1382=) c.1845G>A (p.Lys615=) c.1905G>A (p.Lys635=) c.2076G>A (p.Lys692=) c.4131G>A (p.Lys1377=) c.4191G>A (p.Lys1397=) c.4086G>A (p.Lys1362=) | gnomAD v4 |
| 2 | g.26467447T>A | CA346137355 | OTOF | c.4145A>T (p.Lys1382Met) c.1844A>T (p.Lys615Met) c.1904A>T (p.Lys635Met) c.2075A>T (p.Lys692Met) c.4130A>T (p.Lys1377Met) c.4190A>T (p.Lys1397Met) c.4085A>T (p.Lys1362Met) | |
| 2 | g.26467447T>C | CA346137354 | OTOF | c.4145A>G (p.Lys1382Arg) c.1844A>G (p.Lys615Arg) c.1904A>G (p.Lys635Arg) c.2075A>G (p.Lys692Arg) c.4130A>G (p.Lys1377Arg) c.4190A>G (p.Lys1397Arg) c.4085A>G (p.Lys1362Arg) | |
| 2 | g.26467447T>G | CA346137353 | OTOF | c.4145A>C (p.Lys1382Thr) c.1844A>C (p.Lys615Thr) c.1904A>C (p.Lys635Thr) c.2075A>C (p.Lys692Thr) c.4130A>C (p.Lys1377Thr) c.4190A>C (p.Lys1397Thr) c.4085A>C (p.Lys1362Thr) | |
| 2 | g.26467448T>A | CA346137356 | OTOF | c.4144A>T (p.Lys1382Ter) c.1843A>T (p.Lys615Ter) c.1903A>T (p.Lys635Ter) c.2074A>T (p.Lys692Ter) c.4129A>T (p.Lys1377Ter) c.4189A>T (p.Lys1397Ter) c.4084A>T (p.Lys1362Ter) | |
| 2 | g.26467448T>C | CA346137357 | OTOF | c.4144A>G (p.Lys1382Glu) c.1843A>G (p.Lys615Glu) c.1903A>G (p.Lys635Glu) c.2074A>G (p.Lys692Glu) c.4129A>G (p.Lys1377Glu) c.4189A>G (p.Lys1397Glu) c.4084A>G (p.Lys1362Glu) | gnomAD v4 |
| 2 | g.26467448T>G | CA346137358 | OTOF | c.4144A>C (p.Lys1382Gln) c.1843A>C (p.Lys615Gln) c.1903A>C (p.Lys635Gln) c.2074A>C (p.Lys692Gln) c.4129A>C (p.Lys1377Gln) c.4189A>C (p.Lys1397Gln) c.4084A>C (p.Lys1362Gln) | |
| 2 | g.26467448_26467451delinsTCTC | CA1239818507 | OTOF | c.4141_4144delinsGAGA (p.Glu1381=) c.1840_1843delinsGAGA (p.Glu614=) c.1900_1903delinsGAGA (p.Glu634=) c.2071_2074delinsGAGA (p.Glu691=) c.4126_4129delinsGAGA (p.Glu1376=) c.4186_4189delinsGAGA (p.Glu1396=) c.4081_4084delinsGAGA (p.Glu1361=) | |
| 2 | g.26467449C>A | CA346137359 | OTOF | c.4143G>T (p.Glu1381Asp) c.1842G>T (p.Glu614Asp) c.1902G>T (p.Glu634Asp) c.2073G>T (p.Glu691Asp) c.4128G>T (p.Glu1376Asp) c.4188G>T (p.Glu1396Asp) c.4083G>T (p.Glu1361Asp) | |
| 2 | g.26467449C>G | CA346137360 | OTOF | c.4143G>C (p.Glu1381Asp) c.1842G>C (p.Glu614Asp) c.1902G>C (p.Glu634Asp) c.2073G>C (p.Glu691Asp) c.4128G>C (p.Glu1376Asp) c.4188G>C (p.Glu1396Asp) c.4083G>C (p.Glu1361Asp) | |
| 2 | g.26467449C>T | CA425207451 | OTOF | c.4143G>A (p.Glu1381=) c.1842G>A (p.Glu614=) c.1902G>A (p.Glu634=) c.2073G>A (p.Glu691=) c.4128G>A (p.Glu1376=) c.4188G>A (p.Glu1396=) c.4083G>A (p.Glu1361=) | gnomAD v4 |
| 2 | g.26467452_26467454del | CA346137361 | OTOF | c.4141_4143del (p.Glu1381del) c.1840_1842del (p.Glu614del) c.1900_1902del (p.Glu634del) c.2071_2073del (p.Glu691del) c.4126_4128del (p.Glu1376del) c.4186_4188del (p.Glu1396del) c.4081_4083del (p.Glu1361del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26467450T>A | CA346137364 | OTOF | c.4142A>T (p.Glu1381Val) c.1841A>T (p.Glu614Val) c.1901A>T (p.Glu634Val) c.2072A>T (p.Glu691Val) c.4127A>T (p.Glu1376Val) c.4187A>T (p.Glu1396Val) c.4082A>T (p.Glu1361Val) | |
| 2 | g.26467450T>C | CA346137363 | OTOF | c.4142A>G (p.Glu1381Gly) c.1841A>G (p.Glu614Gly) c.1901A>G (p.Glu634Gly) c.2072A>G (p.Glu691Gly) c.4127A>G (p.Glu1376Gly) c.4187A>G (p.Glu1396Gly) c.4082A>G (p.Glu1361Gly) | gnomAD v4 |
| 2 | g.26467450T>G | CA346137362 | OTOF | c.4142A>C (p.Glu1381Ala) c.1841A>C (p.Glu614Ala) c.1901A>C (p.Glu634Ala) c.2072A>C (p.Glu691Ala) c.4127A>C (p.Glu1376Ala) c.4187A>C (p.Glu1396Ala) c.4082A>C (p.Glu1361Ala) | |
| 2 | g.26467451C>A | CA346137365 | OTOF | c.4141G>T (p.Glu1381Ter) c.1840G>T (p.Glu614Ter) c.1900G>T (p.Glu634Ter) c.2071G>T (p.Glu691Ter) c.4126G>T (p.Glu1376Ter) c.4186G>T (p.Glu1396Ter) c.4081G>T (p.Glu1361Ter) | |
| 2 | g.26467451C= | CA1239818509 | OTOF | c.4141G= (p.Glu1381=) c.1840G= (p.Glu614=) c.1900G= (p.Glu634=) c.2071G= (p.Glu691=) c.4126G= (p.Glu1376=) c.4186G= (p.Glu1396=) c.4081G= (p.Glu1361=) | |
| 2 | g.26467451C>G | CA346137366 | OTOF | c.4141G>C (p.Glu1381Gln) c.1840G>C (p.Glu614Gln) c.1900G>C (p.Glu634Gln) c.2071G>C (p.Glu691Gln) c.4126G>C (p.Glu1376Gln) c.4186G>C (p.Glu1396Gln) c.4081G>C (p.Glu1361Gln) | gnomAD v4 |
| 2 | g.26467451C>T | CA1563273 | OTOF | c.4141G>A (p.Glu1381Lys) c.1840G>A (p.Glu614Lys) c.1900G>A (p.Glu634Lys) c.2071G>A (p.Glu691Lys) c.4126G>A (p.Glu1376Lys) c.4186G>A (p.Glu1396Lys) c.4081G>A (p.Glu1361Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26467452C>A | CA346137367 | OTOF | c.4140G>T (p.Glu1380Asp) c.1839G>T (p.Glu613Asp) c.1899G>T (p.Glu633Asp) c.2070G>T (p.Glu690Asp) c.4125G>T (p.Glu1375Asp) c.4185G>T (p.Glu1395Asp) c.4080G>T (p.Glu1360Asp) | dbSNP |
| 2 | g.26467452C= | CA1239818511 | OTOF | c.4140G= (p.Glu1380=) c.1839G= (p.Glu613=) c.1899G= (p.Glu633=) c.2070G= (p.Glu690=) c.4125G= (p.Glu1375=) c.4185G= (p.Glu1395=) c.4080G= (p.Glu1360=) | |
| 2 | g.26467452C>G | CA346137368 | OTOF | c.4140G>C (p.Glu1380Asp) c.1839G>C (p.Glu613Asp) c.1899G>C (p.Glu633Asp) c.2070G>C (p.Glu690Asp) c.4125G>C (p.Glu1375Asp) c.4185G>C (p.Glu1395Asp) c.4080G>C (p.Glu1360Asp) | |
| 2 | g.26467452C>T | CA425207453 | OTOF | c.4140G>A (p.Glu1380=) c.1839G>A (p.Glu613=) c.1899G>A (p.Glu633=) c.2070G>A (p.Glu690=) c.4125G>A (p.Glu1375=) c.4185G>A (p.Glu1395=) c.4080G>A (p.Glu1360=) | ClinVar |
| 2 | g.26467453T>A | CA346137369 | OTOF | c.4139A>T (p.Glu1380Val) c.1838A>T (p.Glu613Val) c.1898A>T (p.Glu633Val) c.2069A>T (p.Glu690Val) c.4124A>T (p.Glu1375Val) c.4184A>T (p.Glu1395Val) c.4079A>T (p.Glu1360Val) | |
| 2 | g.26467453T>C | CA1563274 | OTOF | c.4139A>G (p.Glu1380Gly) c.1838A>G (p.Glu613Gly) c.1898A>G (p.Glu633Gly) c.2069A>G (p.Glu690Gly) c.4124A>G (p.Glu1375Gly) c.4184A>G (p.Glu1395Gly) c.4079A>G (p.Glu1360Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26467453T>G | CA346137370 | OTOF | c.4139A>C (p.Glu1380Ala) c.1838A>C (p.Glu613Ala) c.1898A>C (p.Glu633Ala) c.2069A>C (p.Glu690Ala) c.4124A>C (p.Glu1375Ala) c.4184A>C (p.Glu1395Ala) c.4079A>C (p.Glu1360Ala) | |
| 2 | g.26467453T= | CA1239818513 | OTOF | c.4139A= (p.Glu1380=) c.1838A= (p.Glu613=) c.1898A= (p.Glu633=) c.2069A= (p.Glu690=) c.4124A= (p.Glu1375=) c.4184A= (p.Glu1395=) c.4079A= (p.Glu1360=) | |
| 2 | g.26467454C>A | CA346137371 | OTOF | c.4138G>T (p.Glu1380Ter) c.1837G>T (p.Glu613Ter) c.1897G>T (p.Glu633Ter) c.2068G>T (p.Glu690Ter) c.4123G>T (p.Glu1375Ter) c.4183G>T (p.Glu1395Ter) c.4078G>T (p.Glu1360Ter) | |
| 2 | g.26467454C= | CA1239818516 | OTOF | c.4138G= (p.Glu1380=) c.1837G= (p.Glu613=) c.1897G= (p.Glu633=) c.2068G= (p.Glu690=) c.4123G= (p.Glu1375=) c.4183G= (p.Glu1395=) c.4078G= (p.Glu1360=) | |
| 2 | g.26467454C>G | CA346137372 | OTOF | c.4138G>C (p.Glu1380Gln) c.1837G>C (p.Glu613Gln) c.1897G>C (p.Glu633Gln) c.2068G>C (p.Glu690Gln) c.4123G>C (p.Glu1375Gln) c.4183G>C (p.Glu1395Gln) c.4078G>C (p.Glu1360Gln) | |
| 2 | g.26467454C>T | CA1563275 | OTOF | c.4138G>A (p.Glu1380Lys) c.1837G>A (p.Glu613Lys) c.1897G>A (p.Glu633Lys) c.2068G>A (p.Glu690Lys) c.4123G>A (p.Glu1375Lys) c.4183G>A (p.Glu1395Lys) c.4078G>A (p.Glu1360Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26467455_26467464del | CA2586968801 | OTOF | c.4129_4138del (p.Ala1377ArgfsTer?) c.1828_1837del (p.Ala610ArgfsTer?) c.1888_1897del (p.Ala630ArgfsTer?) c.2059_2068del (p.Ala687ArgfsTer?) c.4114_4123del (p.Ala1372ArgfsTer?) c.4174_4183del (p.Ala1392ArgfsTer?) c.4069_4078del (p.Ala1357ArgfsTer?) | |
| 2 | g.26467455T>A | CA346137373 | OTOF | c.4137A>T (p.Lys1379Asn) c.1836A>T (p.Lys612Asn) c.1896A>T (p.Lys632Asn) c.2067A>T (p.Lys689Asn) c.4122A>T (p.Lys1374Asn) c.4182A>T (p.Lys1394Asn) c.4077A>T (p.Lys1359Asn) | |
| 2 | g.26467455T>C | CA425207454 | OTOF | c.4137A>G (p.Lys1379=) c.1836A>G (p.Lys612=) c.1896A>G (p.Lys632=) c.2067A>G (p.Lys689=) c.4122A>G (p.Lys1374=) c.4182A>G (p.Lys1394=) c.4077A>G (p.Lys1359=) | |
| 2 | g.26467455T>G | CA346137374 | OTOF | c.4137A>C (p.Lys1379Asn) c.1836A>C (p.Lys612Asn) c.1896A>C (p.Lys632Asn) c.2067A>C (p.Lys689Asn) c.4122A>C (p.Lys1374Asn) c.4182A>C (p.Lys1394Asn) c.4077A>C (p.Lys1359Asn) | |
| 2 | g.26467456T>A | CA346137375 | OTOF | c.4136A>T (p.Lys1379Ile) c.1835A>T (p.Lys612Ile) c.1895A>T (p.Lys632Ile) c.2066A>T (p.Lys689Ile) c.4121A>T (p.Lys1374Ile) c.4181A>T (p.Lys1394Ile) c.4076A>T (p.Lys1359Ile) | |
| 2 | g.26467456T>C | CA346137376 | OTOF | c.4136A>G (p.Lys1379Arg) c.1835A>G (p.Lys612Arg) c.1895A>G (p.Lys632Arg) c.2066A>G (p.Lys689Arg) c.4121A>G (p.Lys1374Arg) c.4181A>G (p.Lys1394Arg) c.4076A>G (p.Lys1359Arg) | |
| 2 | g.26467456T>G | CA346137377 | OTOF | c.4136A>C (p.Lys1379Thr) c.1835A>C (p.Lys612Thr) c.1895A>C (p.Lys632Thr) c.2066A>C (p.Lys689Thr) c.4121A>C (p.Lys1374Thr) c.4181A>C (p.Lys1394Thr) c.4076A>C (p.Lys1359Thr) | |
| 2 | g.26467457T>A | CA346137378 | OTOF | c.4135A>T (p.Lys1379Ter) c.1834A>T (p.Lys612Ter) c.1894A>T (p.Lys632Ter) c.2065A>T (p.Lys689Ter) c.4120A>T (p.Lys1374Ter) c.4180A>T (p.Lys1394Ter) c.4075A>T (p.Lys1359Ter) | |
| 2 | g.26467457T>C | CA346137379 | OTOF | c.4135A>G (p.Lys1379Glu) c.1834A>G (p.Lys612Glu) c.1894A>G (p.Lys632Glu) c.2065A>G (p.Lys689Glu) c.4120A>G (p.Lys1374Glu) c.4180A>G (p.Lys1394Glu) c.4075A>G (p.Lys1359Glu) | |
| 2 | g.26467457T>G | CA346137380 | OTOF | c.4135A>C (p.Lys1379Gln) c.1834A>C (p.Lys612Gln) c.1894A>C (p.Lys632Gln) c.2065A>C (p.Lys689Gln) c.4120A>C (p.Lys1374Gln) c.4180A>C (p.Lys1394Gln) c.4075A>C (p.Lys1359Gln) | |
| 2 | g.26467458G>A | CA425207456 | OTOF | c.4134C>T (p.Ala1378=) c.1833C>T (p.Ala611=) c.1893C>T (p.Ala631=) c.2064C>T (p.Ala688=) c.4119C>T (p.Ala1373=) c.4179C>T (p.Ala1393=) c.4074C>T (p.Ala1358=) | |
| 2 | g.26467458G>C | CA425207458 | OTOF | c.4134C>G (p.Ala1378=) c.1833C>G (p.Ala611=) c.1893C>G (p.Ala631=) c.2064C>G (p.Ala688=) c.4119C>G (p.Ala1373=) c.4179C>G (p.Ala1393=) c.4074C>G (p.Ala1358=) | |
| 2 | g.26467458G>T | CA425207457 | OTOF | c.4134C>A (p.Ala1378=) c.1833C>A (p.Ala611=) c.1893C>A (p.Ala631=) c.2064C>A (p.Ala688=) c.4119C>A (p.Ala1373=) c.4179C>A (p.Ala1393=) c.4074C>A (p.Ala1358=) | |
| 2 | g.26467459G>A | CA1563276 | OTOF | c.4133C>T (p.Ala1378Val) c.1832C>T (p.Ala611Val) c.1892C>T (p.Ala631Val) c.2063C>T (p.Ala688Val) c.4118C>T (p.Ala1373Val) c.4178C>T (p.Ala1393Val) c.4073C>T (p.Ala1358Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26467459G>C | CA346137382 | OTOF | c.4133C>G (p.Ala1378Gly) c.1832C>G (p.Ala611Gly) c.1892C>G (p.Ala631Gly) c.2063C>G (p.Ala688Gly) c.4118C>G (p.Ala1373Gly) c.4178C>G (p.Ala1393Gly) c.4073C>G (p.Ala1358Gly) | |
| 2 | g.26467459G= | CA1239818518 | OTOF | c.4133C= (p.Ala1378=) c.1832C= (p.Ala611=) c.1892C= (p.Ala631=) c.2063C= (p.Ala688=) c.4118C= (p.Ala1373=) c.4178C= (p.Ala1393=) c.4073C= (p.Ala1358=) | |
| 2 | g.26467459G>T | CA346137381 | OTOF | c.4133C>A (p.Ala1378Asp) c.1832C>A (p.Ala611Asp) c.1892C>A (p.Ala631Asp) c.2063C>A (p.Ala688Asp) c.4118C>A (p.Ala1373Asp) c.4178C>A (p.Ala1393Asp) c.4073C>A (p.Ala1358Asp) | |
| 2 | g.26467460C>A | CA346137383 | OTOF | c.4132G>T (p.Ala1378Ser) c.1831G>T (p.Ala611Ser) c.1891G>T (p.Ala631Ser) c.2062G>T (p.Ala688Ser) c.4117G>T (p.Ala1373Ser) c.4177G>T (p.Ala1393Ser) c.4072G>T (p.Ala1358Ser) | |
| 2 | g.26467460C= | CA1239818520 | OTOF | c.4132G= (p.Ala1378=) c.1831G= (p.Ala611=) c.1891G= (p.Ala631=) c.2062G= (p.Ala688=) c.4117G= (p.Ala1373=) c.4177G= (p.Ala1393=) c.4072G= (p.Ala1358=) | |
| 2 | g.26467460C>G | CA346137385 | OTOF | c.4132G>C (p.Ala1378Pro) c.1831G>C (p.Ala611Pro) c.1891G>C (p.Ala631Pro) c.2062G>C (p.Ala688Pro) c.4117G>C (p.Ala1373Pro) c.4177G>C (p.Ala1393Pro) c.4072G>C (p.Ala1358Pro) | |
| 2 | g.26467460C>T | CA346137384 | OTOF | c.4132G>A (p.Ala1378Thr) c.1831G>A (p.Ala611Thr) c.1891G>A (p.Ala631Thr) c.2062G>A (p.Ala688Thr) c.4117G>A (p.Ala1373Thr) c.4177G>A (p.Ala1393Thr) c.4072G>A (p.Ala1358Thr) | dbSNP gnomAD v2 |
| 2 | g.26467461del | CA2698918693 | OTOF | c.4131del (p.Ala1378ProfsTer?) c.1830del (p.Ala611ProfsTer?) c.1890del (p.Ala631ProfsTer?) c.2061del (p.Ala688ProfsTer?) c.4116del (p.Ala1373ProfsTer?) c.4176del (p.Ala1393ProfsTer?) c.4071del (p.Ala1358ProfsTer?) | dbSNP |
| 2 | g.26467461A>C | CA425207459 | OTOF | c.4131T>G (p.Ala1377=) c.1830T>G (p.Ala610=) c.1890T>G (p.Ala630=) c.2061T>G (p.Ala687=) c.4116T>G (p.Ala1372=) c.4176T>G (p.Ala1392=) c.4071T>G (p.Ala1357=) | |
| 2 | g.26467461A>G | CA425207460 | OTOF | c.4131T>C (p.Ala1377=) c.1830T>C (p.Ala610=) c.1890T>C (p.Ala630=) c.2061T>C (p.Ala687=) c.4116T>C (p.Ala1372=) c.4176T>C (p.Ala1392=) c.4071T>C (p.Ala1357=) | |
| 2 | g.26467461A>T | CA425207461 | OTOF | c.4131T>A (p.Ala1377=) c.1830T>A (p.Ala610=) c.1890T>A (p.Ala630=) c.2061T>A (p.Ala687=) c.4116T>A (p.Ala1372=) c.4176T>A (p.Ala1392=) c.4071T>A (p.Ala1357=) | |
| 2 | g.26467462G>A | CA346137386 | OTOF | c.4130C>T (p.Ala1377Val) c.1829C>T (p.Ala610Val) c.1889C>T (p.Ala630Val) c.2060C>T (p.Ala687Val) c.4115C>T (p.Ala1372Val) c.4175C>T (p.Ala1392Val) c.4070C>T (p.Ala1357Val) | |
| 2 | g.26467462G>C | CA346137387 | OTOF | c.4130C>G (p.Ala1377Gly) c.1829C>G (p.Ala610Gly) c.1889C>G (p.Ala630Gly) c.2060C>G (p.Ala687Gly) c.4115C>G (p.Ala1372Gly) c.4175C>G (p.Ala1392Gly) c.4070C>G (p.Ala1357Gly) | gnomAD v4 |
| 2 | g.26467462G>T | CA346137388 | OTOF | c.4130C>A (p.Ala1377Asp) c.1829C>A (p.Ala610Asp) c.1889C>A (p.Ala630Asp) c.2060C>A (p.Ala687Asp) c.4115C>A (p.Ala1372Asp) c.4175C>A (p.Ala1392Asp) c.4070C>A (p.Ala1357Asp) | |
| 2 | g.26467463C>A | CA346137389 | OTOF | c.4129G>T (p.Ala1377Ser) c.1828G>T (p.Ala610Ser) c.1888G>T (p.Ala630Ser) c.2059G>T (p.Ala687Ser) c.4114G>T (p.Ala1372Ser) c.4174G>T (p.Ala1392Ser) c.4069G>T (p.Ala1357Ser) | |
| 2 | g.26467463C>G | CA346137390 | OTOF | c.4129G>C (p.Ala1377Pro) c.1828G>C (p.Ala610Pro) c.1888G>C (p.Ala630Pro) c.2059G>C (p.Ala687Pro) c.4114G>C (p.Ala1372Pro) c.4174G>C (p.Ala1392Pro) c.4069G>C (p.Ala1357Pro) | gnomAD v4 |
| 2 | g.26467463C>T | CA346137391 | OTOF | c.4129G>A (p.Ala1377Thr) c.1828G>A (p.Ala610Thr) c.1888G>A (p.Ala630Thr) c.2059G>A (p.Ala687Thr) c.4114G>A (p.Ala1372Thr) c.4174G>A (p.Ala1392Thr) c.4069G>A (p.Ala1357Thr) | |
| 2 | g.26467464C>A | CA1563277 | OTOF | c.4128G>T (p.Arg1376Ser) c.1827G>T (p.Arg609Ser) c.1887G>T (p.Arg629Ser) c.2058G>T (p.Arg686Ser) c.4113G>T (p.Arg1371Ser) c.4173G>T (p.Arg1391Ser) c.4068G>T (p.Arg1356Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26467464C= | CA1239818521 | OTOF | c.4128G= (p.Arg1376=) c.1827G= (p.Arg609=) c.1887G= (p.Arg629=) c.2058G= (p.Arg686=) c.4113G= (p.Arg1371=) c.4173G= (p.Arg1391=) c.4068G= (p.Arg1356=) | |
| 2 | g.26467464C>G | CA346137392 | OTOF | c.4128G>C (p.Arg1376Ser) c.1827G>C (p.Arg609Ser) c.1887G>C (p.Arg629Ser) c.2058G>C (p.Arg686Ser) c.4113G>C (p.Arg1371Ser) c.4173G>C (p.Arg1391Ser) c.4068G>C (p.Arg1356Ser) | |
| 2 | g.26467464C>T | CA425207464 | OTOF | c.4128G>A (p.Arg1376=) c.1827G>A (p.Arg609=) c.1887G>A (p.Arg629=) c.2058G>A (p.Arg686=) c.4113G>A (p.Arg1371=) c.4173G>A (p.Arg1391=) c.4068G>A (p.Arg1356=) | gnomAD v4 |
| 2 | g.26467465C>A | CA346137393 | OTOF | c.4127G>T (p.Arg1376Met) c.1826G>T (p.Arg609Met) c.1886G>T (p.Arg629Met) c.2057G>T (p.Arg686Met) c.4112G>T (p.Arg1371Met) c.4172G>T (p.Arg1391Met) c.4067G>T (p.Arg1356Met) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26467465C= | CA1239818524 | OTOF | c.4127G= (p.Arg1376=) c.1826G= (p.Arg609=) c.1886G= (p.Arg629=) c.2057G= (p.Arg686=) c.4112G= (p.Arg1371=) c.4172G= (p.Arg1391=) c.4067G= (p.Arg1356=) | |
| 2 | g.26467465C>G | CA346137394 | OTOF | c.4127G>C (p.Arg1376Thr) c.1826G>C (p.Arg609Thr) c.1886G>C (p.Arg629Thr) c.2057G>C (p.Arg686Thr) c.4112G>C (p.Arg1371Thr) c.4172G>C (p.Arg1391Thr) c.4067G>C (p.Arg1356Thr) | gnomAD v4 |
| 2 | g.26467465C>T | CA346137395 | OTOF | c.4127G>A (p.Arg1376Lys) c.1826G>A (p.Arg609Lys) c.1886G>A (p.Arg629Lys) c.2057G>A (p.Arg686Lys) c.4112G>A (p.Arg1371Lys) c.4172G>A (p.Arg1391Lys) c.4067G>A (p.Arg1356Lys) | |
| 2 | g.26467466T>A | CA346137396 | OTOF | c.4126A>T (p.Arg1376Trp) c.1825A>T (p.Arg609Trp) c.1885A>T (p.Arg629Trp) c.2056A>T (p.Arg686Trp) c.4111A>T (p.Arg1371Trp) c.4171A>T (p.Arg1391Trp) c.4066A>T (p.Arg1356Trp) | |
| 2 | g.26467466T>C | CA346137397 | OTOF | c.4126A>G (p.Arg1376Gly) c.1825A>G (p.Arg609Gly) c.1885A>G (p.Arg629Gly) c.2056A>G (p.Arg686Gly) c.4111A>G (p.Arg1371Gly) c.4171A>G (p.Arg1391Gly) c.4066A>G (p.Arg1356Gly) | |
| 2 | g.26467466T>G | CA425207465 | OTOF | c.4126A>C (p.Arg1376=) c.1825A>C (p.Arg609=) c.1885A>C (p.Arg629=) c.2056A>C (p.Arg686=) c.4111A>C (p.Arg1371=) c.4171A>C (p.Arg1391=) c.4066A>C (p.Arg1356=) | |
| 2 | g.26467467T>A | CA425207466 | OTOF | c.4125A>T (p.Ala1375=) c.1824A>T (p.Ala608=) c.1884A>T (p.Ala628=) c.2055A>T (p.Ala685=) c.4110A>T (p.Ala1370=) c.4170A>T (p.Ala1390=) c.4065A>T (p.Ala1355=) | |
| 2 | g.26467467T>C | CA425207467 | OTOF | c.4125A>G (p.Ala1375=) c.1824A>G (p.Ala608=) c.1884A>G (p.Ala628=) c.2055A>G (p.Ala685=) c.4110A>G (p.Ala1370=) c.4170A>G (p.Ala1390=) c.4065A>G (p.Ala1355=) | |
| 2 | g.26467467T>G | CA425207468 | OTOF | c.4125A>C (p.Ala1375=) c.1824A>C (p.Ala608=) c.1884A>C (p.Ala628=) c.2055A>C (p.Ala685=) c.4110A>C (p.Ala1370=) c.4170A>C (p.Ala1390=) c.4065A>C (p.Ala1355=) | |
| 2 | g.26467468G>A | CA346137400 | OTOF | c.4124C>T (p.Ala1375Val) c.1823C>T (p.Ala608Val) c.1883C>T (p.Ala628Val) c.2054C>T (p.Ala685Val) c.4109C>T (p.Ala1370Val) c.4169C>T (p.Ala1390Val) c.4064C>T (p.Ala1355Val) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26467468G>C | CA346137399 | OTOF | c.4124C>G (p.Ala1375Gly) c.1823C>G (p.Ala608Gly) c.1883C>G (p.Ala628Gly) c.2054C>G (p.Ala685Gly) c.4109C>G (p.Ala1370Gly) c.4169C>G (p.Ala1390Gly) c.4064C>G (p.Ala1355Gly) | |
| 2 | g.26467468G= | CA1239818527 | OTOF | c.4124C= (p.Ala1375=) c.1823C= (p.Ala608=) c.1883C= (p.Ala628=) c.2054C= (p.Ala685=) c.4109C= (p.Ala1370=) c.4169C= (p.Ala1390=) c.4064C= (p.Ala1355=) | |
| 2 | g.26467468G>T | CA346137398 | OTOF | c.4124C>A (p.Ala1375Glu) c.1823C>A (p.Ala608Glu) c.1883C>A (p.Ala628Glu) c.2054C>A (p.Ala685Glu) c.4109C>A (p.Ala1370Glu) c.4169C>A (p.Ala1390Glu) c.4064C>A (p.Ala1355Glu) | |
| 2 | g.26467469C>A | CA346137401 | OTOF | c.4123G>T (p.Ala1375Ser) c.1822G>T (p.Ala608Ser) c.1882G>T (p.Ala628Ser) c.2053G>T (p.Ala685Ser) c.4108G>T (p.Ala1370Ser) c.4168G>T (p.Ala1390Ser) c.4063G>T (p.Ala1355Ser) | |
| 2 | g.26467469C>G | CA346137402 | OTOF | c.4123G>C (p.Ala1375Pro) c.1822G>C (p.Ala608Pro) c.1882G>C (p.Ala628Pro) c.2053G>C (p.Ala685Pro) c.4108G>C (p.Ala1370Pro) c.4168G>C (p.Ala1390Pro) c.4063G>C (p.Ala1355Pro) | |
| 2 | g.26467469C>T | CA346137403 | OTOF | c.4123G>A (p.Ala1375Thr) c.1822G>A (p.Ala608Thr) c.1882G>A (p.Ala628Thr) c.2053G>A (p.Ala685Thr) c.4108G>A (p.Ala1370Thr) c.4168G>A (p.Ala1390Thr) c.4063G>A (p.Ala1355Thr) | |
| 2 | g.26467470C>A | CA346137404 | OTOF | c.4122G>T (p.Lys1374Asn) c.1821G>T (p.Lys607Asn) c.1881G>T (p.Lys627Asn) c.2052G>T (p.Lys684Asn) c.4107G>T (p.Lys1369Asn) c.4167G>T (p.Lys1389Asn) c.4062G>T (p.Lys1354Asn) | |
| 2 | g.26467470C= | CA1239818528 | OTOF | c.4122G= (p.Lys1374=) c.1821G= (p.Lys607=) c.1881G= (p.Lys627=) c.2052G= (p.Lys684=) c.4107G= (p.Lys1369=) c.4167G= (p.Lys1389=) c.4062G= (p.Lys1354=) | |
| 2 | g.26467470C>G | CA346137405 | OTOF | c.4122G>C (p.Lys1374Asn) c.1821G>C (p.Lys607Asn) c.1881G>C (p.Lys627Asn) c.2052G>C (p.Lys684Asn) c.4107G>C (p.Lys1369Asn) c.4167G>C (p.Lys1389Asn) c.4062G>C (p.Lys1354Asn) | |
| 2 | g.26467470C>T | CA425207470 | OTOF | c.4122G>A (p.Lys1374=) c.1821G>A (p.Lys607=) c.1881G>A (p.Lys627=) c.2052G>A (p.Lys684=) c.4107G>A (p.Lys1369=) c.4167G>A (p.Lys1389=) c.4062G>A (p.Lys1354=) | dbSNP |
| 2 | g.26467471T>A | CA346137406 | OTOF | c.4121A>T (p.Lys1374Met) c.1820A>T (p.Lys607Met) c.1880A>T (p.Lys627Met) c.2051A>T (p.Lys684Met) c.4106A>T (p.Lys1369Met) c.4166A>T (p.Lys1389Met) c.4061A>T (p.Lys1354Met) | |
| 2 | g.26467471T>C | CA346137407 | OTOF | c.4121A>G (p.Lys1374Arg) c.1820A>G (p.Lys607Arg) c.1880A>G (p.Lys627Arg) c.2051A>G (p.Lys684Arg) c.4106A>G (p.Lys1369Arg) c.4166A>G (p.Lys1389Arg) c.4061A>G (p.Lys1354Arg) | |
| 2 | g.26467471T>G | CA1563278 | OTOF | c.4121A>C (p.Lys1374Thr) c.1820A>C (p.Lys607Thr) c.1880A>C (p.Lys627Thr) c.2051A>C (p.Lys684Thr) c.4106A>C (p.Lys1369Thr) c.4166A>C (p.Lys1389Thr) c.4061A>C (p.Lys1354Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26467471T= | CA1239818530 | OTOF | c.4121A= (p.Lys1374=) c.1820A= (p.Lys607=) c.1880A= (p.Lys627=) c.2051A= (p.Lys684=) c.4106A= (p.Lys1369=) c.4166A= (p.Lys1389=) c.4061A= (p.Lys1354=) | |
| 2 | g.26467472T>A | CA346137408 | OTOF | c.4120A>T (p.Lys1374Ter) c.1819A>T (p.Lys607Ter) c.1879A>T (p.Lys627Ter) c.2050A>T (p.Lys684Ter) c.4105A>T (p.Lys1369Ter) c.4165A>T (p.Lys1389Ter) c.4060A>T (p.Lys1354Ter) | |
| 2 | g.26467472T>C | CA346137409 | OTOF | c.4120A>G (p.Lys1374Glu) c.1819A>G (p.Lys607Glu) c.1879A>G (p.Lys627Glu) c.2050A>G (p.Lys684Glu) c.4105A>G (p.Lys1369Glu) c.4165A>G (p.Lys1389Glu) c.4060A>G (p.Lys1354Glu) | |
| 2 | g.26467472T>G | CA346137410 | OTOF | c.4120A>C (p.Lys1374Gln) c.1819A>C (p.Lys607Gln) c.1879A>C (p.Lys627Gln) c.2050A>C (p.Lys684Gln) c.4105A>C (p.Lys1369Gln) c.4165A>C (p.Lys1389Gln) c.4060A>C (p.Lys1354Gln) | |
| 2 | g.26467473_26467483dup | CA2580066197 | OTOF | c.4110_4120dup (p.Lys1374ArgfsTer?) c.1809_1819dup (p.Lys607ArgfsTer?) c.1869_1879dup (p.Lys627ArgfsTer?) c.2040_2050dup (p.Lys684ArgfsTer?) c.4095_4105dup (p.Lys1369ArgfsTer?) c.4155_4165dup (p.Lys1389ArgfsTer?) c.4050_4060dup (p.Lys1354ArgfsTer?) | ClinVar |
| 2 | g.26467473C>A | CA346137411 | OTOF | c.4119G>T (p.Glu1373Asp) c.1818G>T (p.Glu606Asp) c.1878G>T (p.Glu626Asp) c.2049G>T (p.Glu683Asp) c.4104G>T (p.Glu1368Asp) c.4164G>T (p.Glu1388Asp) c.4059G>T (p.Glu1353Asp) | |
| 2 | g.26467473C>G | CA346137412 | OTOF | c.4119G>C (p.Glu1373Asp) c.1818G>C (p.Glu606Asp) c.1878G>C (p.Glu626Asp) c.2049G>C (p.Glu683Asp) c.4104G>C (p.Glu1368Asp) c.4164G>C (p.Glu1388Asp) c.4059G>C (p.Glu1353Asp) | |
| 2 | g.26467473C>T | CA425207471 | OTOF | c.4119G>A (p.Glu1373=) c.1818G>A (p.Glu606=) c.1878G>A (p.Glu626=) c.2049G>A (p.Glu683=) c.4104G>A (p.Glu1368=) c.4164G>A (p.Glu1388=) c.4059G>A (p.Glu1353=) | gnomAD v4 |
| 2 | g.26467474T>A | CA346137414 | OTOF | c.4118A>T (p.Glu1373Val) c.1817A>T (p.Glu606Val) c.1877A>T (p.Glu626Val) c.2048A>T (p.Glu683Val) c.4103A>T (p.Glu1368Val) c.4163A>T (p.Glu1388Val) c.4058A>T (p.Glu1353Val) | |
| 2 | g.26467474T>C | CA346137415 | OTOF | c.4118A>G (p.Glu1373Gly) c.1817A>G (p.Glu606Gly) c.1877A>G (p.Glu626Gly) c.2048A>G (p.Glu683Gly) c.4103A>G (p.Glu1368Gly) c.4163A>G (p.Glu1388Gly) c.4058A>G (p.Glu1353Gly) | gnomAD v4 |
| 2 | g.26467474T>G | CA346137413 | OTOF | c.4118A>C (p.Glu1373Ala) c.1817A>C (p.Glu606Ala) c.1877A>C (p.Glu626Ala) c.2048A>C (p.Glu683Ala) c.4103A>C (p.Glu1368Ala) c.4163A>C (p.Glu1388Ala) c.4058A>C (p.Glu1353Ala) | |
| 2 | g.26467475C>A | CA346137416 | OTOF | c.4117G>T (p.Glu1373Ter) c.1816G>T (p.Glu606Ter) c.1876G>T (p.Glu626Ter) c.2047G>T (p.Glu683Ter) c.4102G>T (p.Glu1368Ter) c.4162G>T (p.Glu1388Ter) c.4057G>T (p.Glu1353Ter) | |
| 2 | g.26467475C>G | CA346137417 | OTOF | c.4117G>C (p.Glu1373Gln) c.1816G>C (p.Glu606Gln) c.1876G>C (p.Glu626Gln) c.2047G>C (p.Glu683Gln) c.4102G>C (p.Glu1368Gln) c.4162G>C (p.Glu1388Gln) c.4057G>C (p.Glu1353Gln) | |
| 2 | g.26467475C>T | CA346137418 | OTOF | c.4117G>A (p.Glu1373Lys) c.1816G>A (p.Glu606Lys) c.1876G>A (p.Glu626Lys) c.2047G>A (p.Glu683Lys) c.4102G>A (p.Glu1368Lys) c.4162G>A (p.Glu1388Lys) c.4057G>A (p.Glu1353Lys) |