| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.26467126_26467143del | CA2523588077 | OTOF | c.4323_4340del (p.Asp1441_Glu1446del) c.2022_2039del (p.Asp674_Glu679del) c.2082_2099del (p.Asp694_Glu699del) c.2253_2270del (p.Asp751_Glu756del) c.4308_4325del (p.Asp1436_Glu1441del) c.4368_4385del (p.Asp1456_Glu1461del) c.4263_4280del (p.Asp1421_Glu1426del) | gnomAD v4 |
| 2 | g.26467131_26467133del | CA1563215 | OTOF | c.4330_4332del (p.Thr1444del) c.2029_2031del (p.Thr677del) c.2089_2091del (p.Thr697del) c.2260_2262del (p.Thr754del) c.4315_4317del (p.Thr1439del) c.4375_4377del (p.Thr1459del) c.4270_4272del (p.Thr1424del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26467133G>A | CA1563217 | OTOF | c.4328C>T (p.Ser1443Phe) c.2027C>T (p.Ser676Phe) c.2087C>T (p.Ser696Phe) c.2258C>T (p.Ser753Phe) c.4313C>T (p.Ser1438Phe) c.4373C>T (p.Ser1458Phe) c.4268C>T (p.Ser1423Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26467133G>C | CA346136812 | OTOF | c.4328C>G (p.Ser1443Cys) c.2027C>G (p.Ser676Cys) c.2087C>G (p.Ser696Cys) c.2258C>G (p.Ser753Cys) c.4313C>G (p.Ser1438Cys) c.4373C>G (p.Ser1458Cys) c.4268C>G (p.Ser1423Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26467133G= | CA1239817916 | OTOF | c.4328C= (p.Ser1443=) c.2027C= (p.Ser676=) c.2087C= (p.Ser696=) c.2258C= (p.Ser753=) c.4313C= (p.Ser1438=) c.4373C= (p.Ser1458=) c.4268C= (p.Ser1423=) | |
| 2 | g.26467133G>T | CA346136810 | OTOF | c.4328C>A (p.Ser1443Tyr) c.2027C>A (p.Ser676Tyr) c.2087C>A (p.Ser696Tyr) c.2258C>A (p.Ser753Tyr) c.4313C>A (p.Ser1438Tyr) c.4373C>A (p.Ser1458Tyr) c.4268C>A (p.Ser1423Tyr) | |
| 2 | g.26467134A>C | CA346136813 | OTOF | c.4327T>G (p.Ser1443Ala) c.2026T>G (p.Ser676Ala) c.2086T>G (p.Ser696Ala) c.2257T>G (p.Ser753Ala) c.4312T>G (p.Ser1438Ala) c.4372T>G (p.Ser1458Ala) c.4267T>G (p.Ser1423Ala) | |
| 2 | g.26467134A>G | CA346136815 | OTOF | c.4327T>C (p.Ser1443Pro) c.2026T>C (p.Ser676Pro) c.2086T>C (p.Ser696Pro) c.2257T>C (p.Ser753Pro) c.4312T>C (p.Ser1438Pro) c.4372T>C (p.Ser1458Pro) c.4267T>C (p.Ser1423Pro) | |
| 2 | g.26467134A>T | CA346136816 | OTOF | c.4327T>A (p.Ser1443Thr) c.2026T>A (p.Ser676Thr) c.2086T>A (p.Ser696Thr) c.2257T>A (p.Ser753Thr) c.4312T>A (p.Ser1438Thr) c.4372T>A (p.Ser1458Thr) c.4267T>A (p.Ser1423Thr) | |
| 2 | g.26467135G>A | CA425359621 | OTOF | c.4326C>T (p.Gly1442=) c.2025C>T (p.Gly675=) c.2085C>T (p.Gly695=) c.2256C>T (p.Gly752=) c.4311C>T (p.Gly1437=) c.4371C>T (p.Gly1457=) c.4266C>T (p.Gly1422=) | |
| 2 | g.26467135G>C | CA425359622 | OTOF | c.4326C>G (p.Gly1442=) c.2025C>G (p.Gly675=) c.2085C>G (p.Gly695=) c.2256C>G (p.Gly752=) c.4311C>G (p.Gly1437=) c.4371C>G (p.Gly1457=) c.4266C>G (p.Gly1422=) | |
| 2 | g.26467135G>T | CA425359623 | OTOF | c.4326C>A (p.Gly1442=) c.2025C>A (p.Gly675=) c.2085C>A (p.Gly695=) c.2256C>A (p.Gly752=) c.4311C>A (p.Gly1437=) c.4371C>A (p.Gly1457=) c.4266C>A (p.Gly1422=) | gnomAD v4 |
| 2 | g.26467136C>A | CA346136817 | OTOF | c.4325G>T (p.Gly1442Val) c.2024G>T (p.Gly675Val) c.2084G>T (p.Gly695Val) c.2255G>T (p.Gly752Val) c.4310G>T (p.Gly1437Val) c.4370G>T (p.Gly1457Val) c.4265G>T (p.Gly1422Val) | gnomAD v4 |
| 2 | g.26467136C>G | CA346136819 | OTOF | c.4325G>C (p.Gly1442Ala) c.2024G>C (p.Gly675Ala) c.2084G>C (p.Gly695Ala) c.2255G>C (p.Gly752Ala) c.4310G>C (p.Gly1437Ala) c.4370G>C (p.Gly1457Ala) c.4265G>C (p.Gly1422Ala) | |
| 2 | g.26467136C>T | CA346136821 | OTOF | c.4325G>A (p.Gly1442Asp) c.2024G>A (p.Gly675Asp) c.2084G>A (p.Gly695Asp) c.2255G>A (p.Gly752Asp) c.4310G>A (p.Gly1437Asp) c.4370G>A (p.Gly1457Asp) c.4265G>A (p.Gly1422Asp) | gnomAD v4 COSMIC COSMIC COSMIC |
| 2 | g.26467137C>A | CA346136822 | OTOF | c.4324G>T (p.Gly1442Cys) c.2023G>T (p.Gly675Cys) c.2083G>T (p.Gly695Cys) c.2254G>T (p.Gly752Cys) c.4309G>T (p.Gly1437Cys) c.4369G>T (p.Gly1457Cys) c.4264G>T (p.Gly1422Cys) | |
| 2 | g.26467137C= | CA1239817921 | OTOF | c.4324G= (p.Gly1442=) c.2023G= (p.Gly675=) c.2083G= (p.Gly695=) c.2254G= (p.Gly752=) c.4309G= (p.Gly1437=) c.4369G= (p.Gly1457=) c.4264G= (p.Gly1422=) | |
| 2 | g.26467137C>G | CA346136823 | OTOF | c.4324G>C (p.Gly1442Arg) c.2023G>C (p.Gly675Arg) c.2083G>C (p.Gly695Arg) c.2254G>C (p.Gly752Arg) c.4309G>C (p.Gly1437Arg) c.4369G>C (p.Gly1457Arg) c.4264G>C (p.Gly1422Arg) | |
| 2 | g.26467137C>T | CA1563218 | OTOF | c.4324G>A (p.Gly1442Ser) c.2023G>A (p.Gly675Ser) c.2083G>A (p.Gly695Ser) c.2254G>A (p.Gly752Ser) c.4309G>A (p.Gly1437Ser) c.4369G>A (p.Gly1457Ser) c.4264G>A (p.Gly1422Ser) | ClinVar dbSNP ExAC |
| 2 | g.26467137_26467144dup | CA2576699117 | OTOF | c.4317_4324dup (p.Gly1442ValfsTer?) c.2016_2023dup (p.Gly675ValfsTer?) c.2076_2083dup (p.Gly695ValfsTer?) c.2247_2254dup (p.Gly752ValfsTer?) c.4302_4309dup (p.Gly1437ValfsTer?) c.4362_4369dup (p.Gly1457ValfsTer?) c.4257_4264dup (p.Gly1422ValfsTer?) | |
| 2 | g.26467137_26467138insGCTGATGACGGCGTGGTATTCCTGCACGTCAGTTGATTCTGCCGCCATGAGTGCTTTGAGGGCGGCGCGGCGCTCTTCGAGGGTGCGCTCACCTGCGTTGTGCTCACCGGCGCTGCATTCGTTAGGGTT | CA2511824366 | OTOF | c.4323_4324insAACCCTAACGAATGCAGCGCCGGTGAGCACAACGCAGGTGAGCGCACCCTCGAAGAGCGCCGCGCCGCCCTCAAAGCACTCATGGCGGCAGAATCAACTGACGTGCAGGAATACCACGCCGTCATCAGC (p.Asp1441_Gly1442insAsnProAsnGluCysSerAlaGlyGluHisAsnAlaGlyGluArgThrLeuGluGluArgArgAlaAlaLeuLysAlaLeuMetAlaAlaGluSerThrAspValGlnGluTyrHisAlaValIleSer) c.2022_2023insAACCCTAACGAATGCAGCGCCGGTGAGCACAACGCAGGTGAGCGCACCCTCGAAGAGCGCCGCGCCGCCCTCAAAGCACTCATGGCGGCAGAATCAACTGACGTGCAGGAATACCACGCCGTCATCAGC (p.Asp674_Gly675insAsnProAsnGluCysSerAlaGlyGluHisAsnAlaGlyGluArgThrLeuGluGluArgArgAlaAlaLeuLysAlaLeuMetAlaAlaGluSerThrAspValGlnGluTyrHisAlaValIleSer) c.2082_2083insAACCCTAACGAATGCAGCGCCGGTGAGCACAACGCAGGTGAGCGCACCCTCGAAGAGCGCCGCGCCGCCCTCAAAGCACTCATGGCGGCAGAATCAACTGACGTGCAGGAATACCACGCCGTCATCAGC (p.Asp694_Gly695insAsnProAsnGluCysSerAlaGlyGluHisAsnAlaGlyGluArgThrLeuGluGluArgArgAlaAlaLeuLysAlaLeuMetAlaAlaGluSerThrAspValGlnGluTyrHisAlaValIleSer) c.2253_2254insAACCCTAACGAATGCAGCGCCGGTGAGCACAACGCAGGTGAGCGCACCCTCGAAGAGCGCCGCGCCGCCCTCAAAGCACTCATGGCGGCAGAATCAACTGACGTGCAGGAATACCACGCCGTCATCAGC (p.Asp751_Gly752insAsnProAsnGluCysSerAlaGlyGluHisAsnAlaGlyGluArgThrLeuGluGluArgArgAlaAlaLeuLysAlaLeuMetAlaAlaGluSerThrAspValGlnGluTyrHisAlaValIleSer) c.4308_4309insAACCCTAACGAATGCAGCGCCGGTGAGCACAACGCAGGTGAGCGCACCCTCGAAGAGCGCCGCGCCGCCCTCAAAGCACTCATGGCGGCAGAATCAACTGACGTGCAGGAATACCACGCCGTCATCAGC (p.Asp1436_Gly1437insAsnProAsnGluCysSerAlaGlyGluHisAsnAlaGlyGluArgThrLeuGluGluArgArgAlaAlaLeuLysAlaLeuMetAlaAlaGluSerThrAspValGlnGluTyrHisAlaValIleSer) c.4368_4369insAACCCTAACGAATGCAGCGCCGGTGAGCACAACGCAGGTGAGCGCACCCTCGAAGAGCGCCGCGCCGCCCTCAAAGCACTCATGGCGGCAGAATCAACTGACGTGCAGGAATACCACGCCGTCATCAGC (p.Asp1456_Gly1457insAsnProAsnGluCysSerAlaGlyGluHisAsnAlaGlyGluArgThrLeuGluGluArgArgAlaAlaLeuLysAlaLeuMetAlaAlaGluSerThrAspValGlnGluTyrHisAlaValIleSer) c.4263_4264insAACCCTAACGAATGCAGCGCCGGTGAGCACAACGCAGGTGAGCGCACCCTCGAAGAGCGCCGCGCCGCCCTCAAAGCACTCATGGCGGCAGAATCAACTGACGTGCAGGAATACCACGCCGTCATCAGC (p.Asp1421_Gly1422insAsnProAsnGluCysSerAlaGlyGluHisAsnAlaGlyGluArgThrLeuGluGluArgArgAlaAlaLeuLysAlaLeuMetAlaAlaGluSerThrAspValGlnGluTyrHisAlaValIleSer) | |
| 2 | g.26467138A>C | CA346136825 | OTOF | c.4323T>G (p.Asp1441Glu) c.2022T>G (p.Asp674Glu) c.2082T>G (p.Asp694Glu) c.2253T>G (p.Asp751Glu) c.4308T>G (p.Asp1436Glu) c.4368T>G (p.Asp1456Glu) c.4263T>G (p.Asp1421Glu) | gnomAD v4 |
| 2 | g.26467138A>G | CA425359625 | OTOF | c.4323T>C (p.Asp1441=) c.2022T>C (p.Asp674=) c.2082T>C (p.Asp694=) c.2253T>C (p.Asp751=) c.4308T>C (p.Asp1436=) c.4368T>C (p.Asp1456=) c.4263T>C (p.Asp1421=) | |
| 2 | g.26467138A>T | CA346136827 | OTOF | c.4323T>A (p.Asp1441Glu) c.2022T>A (p.Asp674Glu) c.2082T>A (p.Asp694Glu) c.2253T>A (p.Asp751Glu) c.4308T>A (p.Asp1436Glu) c.4368T>A (p.Asp1456Glu) c.4263T>A (p.Asp1421Glu) | |
| 2 | g.26467139T>A | CA44413664 | OTOF | c.4322A>T (p.Asp1441Val) c.2021A>T (p.Asp674Val) c.2081A>T (p.Asp694Val) c.2252A>T (p.Asp751Val) c.4307A>T (p.Asp1436Val) c.4367A>T (p.Asp1456Val) c.4262A>T (p.Asp1421Val) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26467139T>C | CA346136829 | OTOF | c.4322A>G (p.Asp1441Gly) c.2021A>G (p.Asp674Gly) c.2081A>G (p.Asp694Gly) c.2252A>G (p.Asp751Gly) c.4307A>G (p.Asp1436Gly) c.4367A>G (p.Asp1456Gly) c.4262A>G (p.Asp1421Gly) | gnomAD v4 |
| 2 | g.26467139T>G | CA346136830 | OTOF | c.4322A>C (p.Asp1441Ala) c.2021A>C (p.Asp674Ala) c.2081A>C (p.Asp694Ala) c.2252A>C (p.Asp751Ala) c.4307A>C (p.Asp1436Ala) c.4367A>C (p.Asp1456Ala) c.4262A>C (p.Asp1421Ala) | |
| 2 | g.26467139T= | CA1239817925 | OTOF | c.4322A= (p.Asp1441=) c.2021A= (p.Asp674=) c.2081A= (p.Asp694=) c.2252A= (p.Asp751=) c.4307A= (p.Asp1436=) c.4367A= (p.Asp1456=) c.4262A= (p.Asp1421=) | |
| 2 | g.26467140C>A | CA346136833 | OTOF | c.4321G>T (p.Asp1441Tyr) c.2020G>T (p.Asp674Tyr) c.2080G>T (p.Asp694Tyr) c.2251G>T (p.Asp751Tyr) c.4306G>T (p.Asp1436Tyr) c.4366G>T (p.Asp1456Tyr) c.4261G>T (p.Asp1421Tyr) | |
| 2 | g.26467140C= | CA1239817929 | OTOF | c.4321G= (p.Asp1441=) c.2020G= (p.Asp674=) c.2080G= (p.Asp694=) c.2251G= (p.Asp751=) c.4306G= (p.Asp1436=) c.4366G= (p.Asp1456=) c.4261G= (p.Asp1421=) | |
| 2 | g.26467140C>G | CA346136834 | OTOF | c.4321G>C (p.Asp1441His) c.2020G>C (p.Asp674His) c.2080G>C (p.Asp694His) c.2251G>C (p.Asp751His) c.4306G>C (p.Asp1436His) c.4366G>C (p.Asp1456His) c.4261G>C (p.Asp1421His) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26467140C>T | CA346136835 | OTOF | c.4321G>A (p.Asp1441Asn) c.2020G>A (p.Asp674Asn) c.2080G>A (p.Asp694Asn) c.2251G>A (p.Asp751Asn) c.4306G>A (p.Asp1436Asn) c.4366G>A (p.Asp1456Asn) c.4261G>A (p.Asp1421Asn) | |
| 2 | g.26467141C>A | CA346136836 | OTOF | c.4320G>T (p.Glu1440Asp) c.2019G>T (p.Glu673Asp) c.2079G>T (p.Glu693Asp) c.2250G>T (p.Glu750Asp) c.4305G>T (p.Glu1435Asp) c.4365G>T (p.Glu1455Asp) c.4260G>T (p.Glu1420Asp) | |
| 2 | g.26467141C= | CA1239817933 | OTOF | c.4320G= (p.Glu1440=) c.2019G= (p.Glu673=) c.2079G= (p.Glu693=) c.2250G= (p.Glu750=) c.4305G= (p.Glu1435=) c.4365G= (p.Glu1455=) c.4260G= (p.Glu1420=) | |
| 2 | g.26467141C>G | CA44413668 | OTOF | c.4320G>C (p.Glu1440Asp) c.2019G>C (p.Glu673Asp) c.2079G>C (p.Glu693Asp) c.2250G>C (p.Glu750Asp) c.4305G>C (p.Glu1435Asp) c.4365G>C (p.Glu1455Asp) c.4260G>C (p.Glu1420Asp) | dbSNP gnomAD v4 |
| 2 | g.26467141C>T | CA425359631 | OTOF | c.4320G>A (p.Glu1440=) c.2019G>A (p.Glu673=) c.2079G>A (p.Glu693=) c.2250G>A (p.Glu750=) c.4305G>A (p.Glu1435=) c.4365G>A (p.Glu1455=) c.4260G>A (p.Glu1420=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26467142T>A | CA346136837 | OTOF | c.4319A>T (p.Glu1440Val) c.2018A>T (p.Glu673Val) c.2078A>T (p.Glu693Val) c.2249A>T (p.Glu750Val) c.4304A>T (p.Glu1435Val) c.4364A>T (p.Glu1455Val) c.4259A>T (p.Glu1420Val) | |
| 2 | g.26467142T>C | CA346136838 | OTOF | c.4319A>G (p.Glu1440Gly) c.2018A>G (p.Glu673Gly) c.2078A>G (p.Glu693Gly) c.2249A>G (p.Glu750Gly) c.4304A>G (p.Glu1435Gly) c.4364A>G (p.Glu1455Gly) c.4259A>G (p.Glu1420Gly) | COSMIC COSMIC COSMIC |
| 2 | g.26467142T>G | CA346136839 | OTOF | c.4319A>C (p.Glu1440Ala) c.2018A>C (p.Glu673Ala) c.2078A>C (p.Glu693Ala) c.2249A>C (p.Glu750Ala) c.4304A>C (p.Glu1435Ala) c.4364A>C (p.Glu1455Ala) c.4259A>C (p.Glu1420Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26467142T= | CA1239817935 | OTOF | c.4319A= (p.Glu1440=) c.2018A= (p.Glu673=) c.2078A= (p.Glu693=) c.2249A= (p.Glu750=) c.4304A= (p.Glu1435=) c.4364A= (p.Glu1455=) c.4259A= (p.Glu1420=) | |
| 2 | g.26467143C>A | CA346136840 | OTOF | c.4318G>T (p.Glu1440Ter) c.2017G>T (p.Glu673Ter) c.2077G>T (p.Glu693Ter) c.2248G>T (p.Glu750Ter) c.4303G>T (p.Glu1435Ter) c.4363G>T (p.Glu1455Ter) c.4258G>T (p.Glu1420Ter) | |
| 2 | g.26467143C>G | CA346136841 | OTOF | c.4318G>C (p.Glu1440Gln) c.2017G>C (p.Glu673Gln) c.2077G>C (p.Glu693Gln) c.2248G>C (p.Glu750Gln) c.4303G>C (p.Glu1435Gln) c.4363G>C (p.Glu1455Gln) c.4258G>C (p.Glu1420Gln) | |
| 2 | g.26467143C>T | CA346136843 | OTOF | c.4318G>A (p.Glu1440Lys) c.2017G>A (p.Glu673Lys) c.2077G>A (p.Glu693Lys) c.2248G>A (p.Glu750Lys) c.4303G>A (p.Glu1435Lys) c.4363G>A (p.Glu1455Lys) c.4258G>A (p.Glu1420Lys) | gnomAD v4 |
| 2 | g.26467144A>C | CA346136846 | OTOF | c.4317T>G (p.Asp1439Glu) c.2016T>G (p.Asp672Glu) c.2076T>G (p.Asp692Glu) c.2247T>G (p.Asp749Glu) c.4302T>G (p.Asp1434Glu) c.4362T>G (p.Asp1454Glu) c.4257T>G (p.Asp1419Glu) | |
| 2 | g.26467144A>G | CA425359635 | OTOF | c.4317T>C (p.Asp1439=) c.2016T>C (p.Asp672=) c.2076T>C (p.Asp692=) c.2247T>C (p.Asp749=) c.4302T>C (p.Asp1434=) c.4362T>C (p.Asp1454=) c.4257T>C (p.Asp1419=) | |
| 2 | g.26467144A>T | CA346136845 | OTOF | c.4317T>A (p.Asp1439Glu) c.2016T>A (p.Asp672Glu) c.2076T>A (p.Asp692Glu) c.2247T>A (p.Asp749Glu) c.4302T>A (p.Asp1434Glu) c.4362T>A (p.Asp1454Glu) c.4257T>A (p.Asp1419Glu) | |
| 2 | g.26467145T>A | CA346136848 | OTOF | c.4316A>T (p.Asp1439Val) c.2015A>T (p.Asp672Val) c.2075A>T (p.Asp692Val) c.2246A>T (p.Asp749Val) c.4301A>T (p.Asp1434Val) c.4361A>T (p.Asp1454Val) c.4256A>T (p.Asp1419Val) | |
| 2 | g.26467145T>C | CA346136849 | OTOF | c.4316A>G (p.Asp1439Gly) c.2015A>G (p.Asp672Gly) c.2075A>G (p.Asp692Gly) c.2246A>G (p.Asp749Gly) c.4301A>G (p.Asp1434Gly) c.4361A>G (p.Asp1454Gly) c.4256A>G (p.Asp1419Gly) | |
| 2 | g.26467145T>G | CA346136850 | OTOF | c.4316A>C (p.Asp1439Ala) c.2015A>C (p.Asp672Ala) c.2075A>C (p.Asp692Ala) c.2246A>C (p.Asp749Ala) c.4301A>C (p.Asp1434Ala) c.4361A>C (p.Asp1454Ala) c.4256A>C (p.Asp1419Ala) | |
| 2 | g.26467146C>A | CA346136852 | OTOF | c.4315G>T (p.Asp1439Tyr) c.2014G>T (p.Asp672Tyr) c.2074G>T (p.Asp692Tyr) c.2245G>T (p.Asp749Tyr) c.4300G>T (p.Asp1434Tyr) c.4360G>T (p.Asp1454Tyr) c.4255G>T (p.Asp1419Tyr) | |
| 2 | g.26467146C>G | CA346136854 | OTOF | c.4315G>C (p.Asp1439His) c.2014G>C (p.Asp672His) c.2074G>C (p.Asp692His) c.2245G>C (p.Asp749His) c.4300G>C (p.Asp1434His) c.4360G>C (p.Asp1454His) c.4255G>C (p.Asp1419His) | |
| 2 | g.26467146C>T | CA346136856 | OTOF | c.4315G>A (p.Asp1439Asn) c.2014G>A (p.Asp672Asn) c.2074G>A (p.Asp692Asn) c.2245G>A (p.Asp749Asn) c.4300G>A (p.Asp1434Asn) c.4360G>A (p.Asp1454Asn) c.4255G>A (p.Asp1419Asn) | |
| 2 | g.26467147A>C | CA346136859 | OTOF | c.4314T>G (p.Asp1438Glu) c.2013T>G (p.Asp671Glu) c.2073T>G (p.Asp691Glu) c.2244T>G (p.Asp748Glu) c.4299T>G (p.Asp1433Glu) c.4359T>G (p.Asp1453Glu) c.4254T>G (p.Asp1418Glu) | |
| 2 | g.26467147A>G | CA425359638 | OTOF | c.4314T>C (p.Asp1438=) c.2013T>C (p.Asp671=) c.2073T>C (p.Asp691=) c.2244T>C (p.Asp748=) c.4299T>C (p.Asp1433=) c.4359T>C (p.Asp1453=) c.4254T>C (p.Asp1418=) | |
| 2 | g.26467147A>T | CA346136857 | OTOF | c.4314T>A (p.Asp1438Glu) c.2013T>A (p.Asp671Glu) c.2073T>A (p.Asp691Glu) c.2244T>A (p.Asp748Glu) c.4299T>A (p.Asp1433Glu) c.4359T>A (p.Asp1453Glu) c.4254T>A (p.Asp1418Glu) | |
| 2 | g.26467148T>A | CA1563219 | OTOF | c.4313A>T (p.Asp1438Val) c.2012A>T (p.Asp671Val) c.2072A>T (p.Asp691Val) c.2243A>T (p.Asp748Val) c.4298A>T (p.Asp1433Val) c.4358A>T (p.Asp1453Val) c.4253A>T (p.Asp1418Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26467148T>C | CA346136861 | OTOF | c.4313A>G (p.Asp1438Gly) c.2012A>G (p.Asp671Gly) c.2072A>G (p.Asp691Gly) c.2243A>G (p.Asp748Gly) c.4298A>G (p.Asp1433Gly) c.4358A>G (p.Asp1453Gly) c.4253A>G (p.Asp1418Gly) | |
| 2 | g.26467148T>G | CA346136862 | OTOF | c.4313A>C (p.Asp1438Ala) c.2012A>C (p.Asp671Ala) c.2072A>C (p.Asp691Ala) c.2243A>C (p.Asp748Ala) c.4298A>C (p.Asp1433Ala) c.4358A>C (p.Asp1453Ala) c.4253A>C (p.Asp1418Ala) | |
| 2 | g.26467148T= | CA1239817938 | OTOF | c.4313A= (p.Asp1438=) c.2012A= (p.Asp671=) c.2072A= (p.Asp691=) c.2243A= (p.Asp748=) c.4298A= (p.Asp1433=) c.4358A= (p.Asp1453=) c.4253A= (p.Asp1418=) | |
| 2 | g.26467149C>A | CA346136864 | OTOF | c.4312G>T (p.Asp1438Tyr) c.2011G>T (p.Asp671Tyr) c.2071G>T (p.Asp691Tyr) c.2242G>T (p.Asp748Tyr) c.4297G>T (p.Asp1433Tyr) c.4357G>T (p.Asp1453Tyr) c.4252G>T (p.Asp1418Tyr) | dbSNP gnomAD v4 |
| 2 | g.26467149C= | CA1239817942 | OTOF | c.4312G= (p.Asp1438=) c.2011G= (p.Asp671=) c.2071G= (p.Asp691=) c.2242G= (p.Asp748=) c.4297G= (p.Asp1433=) c.4357G= (p.Asp1453=) c.4252G= (p.Asp1418=) | |
| 2 | g.26467149C>G | CA346136866 | OTOF | c.4312G>C (p.Asp1438His) c.2011G>C (p.Asp671His) c.2071G>C (p.Asp691His) c.2242G>C (p.Asp748His) c.4297G>C (p.Asp1433His) c.4357G>C (p.Asp1453His) c.4252G>C (p.Asp1418His) | gnomAD v4 |
| 2 | g.26467149C>T | CA346136868 | OTOF | c.4312G>A (p.Asp1438Asn) c.2011G>A (p.Asp671Asn) c.2071G>A (p.Asp691Asn) c.2242G>A (p.Asp748Asn) c.4297G>A (p.Asp1433Asn) c.4357G>A (p.Asp1453Asn) c.4252G>A (p.Asp1418Asn) | gnomAD v4 |
| 2 | g.26467152del | CA2573051917 | OTOF | c.4312del (p.Asp1438MetfsTer?) c.2011del (p.Asp671MetfsTer?) c.2071del (p.Asp691MetfsTer?) c.2242del (p.Asp748MetfsTer?) c.4297del (p.Asp1433MetfsTer?) c.4357del (p.Asp1453MetfsTer?) c.4252del (p.Asp1418MetfsTer?) | dbSNP gnomAD v4 |
| 2 | g.26467150C>A | CA425359645 | OTOF | c.4311G>T (p.Gly1437=) c.2010G>T (p.Gly670=) c.2070G>T (p.Gly690=) c.2241G>T (p.Gly747=) c.4296G>T (p.Gly1432=) c.4356G>T (p.Gly1452=) c.4251G>T (p.Gly1417=) | dbSNP |
| 2 | g.26467150C= | CA1239817945 | OTOF | c.4311G= (p.Gly1437=) c.2010G= (p.Gly670=) c.2070G= (p.Gly690=) c.2241G= (p.Gly747=) c.4296G= (p.Gly1432=) c.4356G= (p.Gly1452=) c.4251G= (p.Gly1417=) | |
| 2 | g.26467150C>G | CA425359647 | OTOF | c.4311G>C (p.Gly1437=) c.2010G>C (p.Gly670=) c.2070G>C (p.Gly690=) c.2241G>C (p.Gly747=) c.4296G>C (p.Gly1432=) c.4356G>C (p.Gly1452=) c.4251G>C (p.Gly1417=) | |
| 2 | g.26467150C>T | CA425359649 | OTOF | c.4311G>A (p.Gly1437=) c.2010G>A (p.Gly670=) c.2070G>A (p.Gly690=) c.2241G>A (p.Gly747=) c.4296G>A (p.Gly1432=) c.4356G>A (p.Gly1452=) c.4251G>A (p.Gly1417=) | gnomAD v4 |
| 2 | g.26467151C>A | CA346136869 | OTOF | c.4310G>T (p.Gly1437Val) c.2009G>T (p.Gly670Val) c.2069G>T (p.Gly690Val) c.2240G>T (p.Gly747Val) c.4295G>T (p.Gly1432Val) c.4355G>T (p.Gly1452Val) c.4250G>T (p.Gly1417Val) | |
| 2 | g.26467151C>G | CA346136872 | OTOF | c.4310G>C (p.Gly1437Ala) c.2009G>C (p.Gly670Ala) c.2069G>C (p.Gly690Ala) c.2240G>C (p.Gly747Ala) c.4295G>C (p.Gly1432Ala) c.4355G>C (p.Gly1452Ala) c.4250G>C (p.Gly1417Ala) | gnomAD v4 |
| 2 | g.26467151C>T | CA346136871 | OTOF | c.4310G>A (p.Gly1437Glu) c.2009G>A (p.Gly670Glu) c.2069G>A (p.Gly690Glu) c.2240G>A (p.Gly747Glu) c.4295G>A (p.Gly1432Glu) c.4355G>A (p.Gly1452Glu) c.4250G>A (p.Gly1417Glu) | |
| 2 | g.26467152C>A | CA346136873 | OTOF | c.4309G>T (p.Gly1437Trp) c.2008G>T (p.Gly670Trp) c.2068G>T (p.Gly690Trp) c.2239G>T (p.Gly747Trp) c.4294G>T (p.Gly1432Trp) c.4354G>T (p.Gly1452Trp) c.4249G>T (p.Gly1417Trp) | |
| 2 | g.26467152C= | CA1239817947 | OTOF | c.4309G= (p.Gly1437=) c.2008G= (p.Gly670=) c.2068G= (p.Gly690=) c.2239G= (p.Gly747=) c.4294G= (p.Gly1432=) c.4354G= (p.Gly1452=) c.4249G= (p.Gly1417=) | |
| 2 | g.26467152C>G | CA44413679 | OTOF | c.4309G>C (p.Gly1437Arg) c.2008G>C (p.Gly670Arg) c.2068G>C (p.Gly690Arg) c.2239G>C (p.Gly747Arg) c.4294G>C (p.Gly1432Arg) c.4354G>C (p.Gly1452Arg) c.4249G>C (p.Gly1417Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26467152C>T | CA44413678 | OTOF | c.4309G>A (p.Gly1437Arg) c.2008G>A (p.Gly670Arg) c.2068G>A (p.Gly690Arg) c.2239G>A (p.Gly747Arg) c.4294G>A (p.Gly1432Arg) c.4354G>A (p.Gly1452Arg) c.4249G>A (p.Gly1417Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26467153G>A | CA1563220 | OTOF | c.4308C>T (p.Thr1436=) c.2007C>T (p.Thr669=) c.2067C>T (p.Thr689=) c.2238C>T (p.Thr746=) c.4293C>T (p.Thr1431=) c.4353C>T (p.Thr1451=) c.4248C>T (p.Thr1416=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 2 | g.26467153G>C | CA1563221 | OTOF | c.4308C>G (p.Thr1436=) c.2007C>G (p.Thr669=) c.2067C>G (p.Thr689=) c.2238C>G (p.Thr746=) c.4293C>G (p.Thr1431=) c.4353C>G (p.Thr1451=) c.4248C>G (p.Thr1416=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26467153G= | CA1239817954 | OTOF | c.4308C= (p.Thr1436=) c.2007C= (p.Thr669=) c.2067C= (p.Thr689=) c.2238C= (p.Thr746=) c.4293C= (p.Thr1431=) c.4353C= (p.Thr1451=) c.4248C= (p.Thr1416=) | |
| 2 | g.26467153G>T | CA425359654 | OTOF | c.4308C>A (p.Thr1436=) c.2007C>A (p.Thr669=) c.2067C>A (p.Thr689=) c.2238C>A (p.Thr746=) c.4293C>A (p.Thr1431=) c.4353C>A (p.Thr1451=) c.4248C>A (p.Thr1416=) | |
| 2 | g.26467154G>A | CA44413693 | OTOF | c.4307C>T (p.Thr1436Ile) c.2006C>T (p.Thr669Ile) c.2066C>T (p.Thr689Ile) c.2237C>T (p.Thr746Ile) c.4292C>T (p.Thr1431Ile) c.4352C>T (p.Thr1451Ile) c.4247C>T (p.Thr1416Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26467154G>C | CA346136878 | OTOF | c.4307C>G (p.Thr1436Ser) c.2006C>G (p.Thr669Ser) c.2066C>G (p.Thr689Ser) c.2237C>G (p.Thr746Ser) c.4292C>G (p.Thr1431Ser) c.4352C>G (p.Thr1451Ser) c.4247C>G (p.Thr1416Ser) | |
| 2 | g.26467154G= | CA1239817956 | OTOF | c.4307C= (p.Thr1436=) c.2006C= (p.Thr669=) c.2066C= (p.Thr689=) c.2237C= (p.Thr746=) c.4292C= (p.Thr1431=) c.4352C= (p.Thr1451=) c.4247C= (p.Thr1416=) | |
| 2 | g.26467154G>T | CA346136880 | OTOF | c.4307C>A (p.Thr1436Asn) c.2006C>A (p.Thr669Asn) c.2066C>A (p.Thr689Asn) c.2237C>A (p.Thr746Asn) c.4292C>A (p.Thr1431Asn) c.4352C>A (p.Thr1451Asn) c.4247C>A (p.Thr1416Asn) | |
| 2 | g.26467155T>A | CA346136881 | OTOF | c.4306A>T (p.Thr1436Ser) c.2005A>T (p.Thr669Ser) c.2065A>T (p.Thr689Ser) c.2236A>T (p.Thr746Ser) c.4291A>T (p.Thr1431Ser) c.4351A>T (p.Thr1451Ser) c.4246A>T (p.Thr1416Ser) | gnomAD v4 |
| 2 | g.26467155T>C | CA346136883 | OTOF | c.4306A>G (p.Thr1436Ala) c.2005A>G (p.Thr669Ala) c.2065A>G (p.Thr689Ala) c.2236A>G (p.Thr746Ala) c.4291A>G (p.Thr1431Ala) c.4351A>G (p.Thr1451Ala) c.4246A>G (p.Thr1416Ala) | |
| 2 | g.26467155T>G | CA346136884 | OTOF | c.4306A>C (p.Thr1436Pro) c.2005A>C (p.Thr669Pro) c.2065A>C (p.Thr689Pro) c.2236A>C (p.Thr746Pro) c.4291A>C (p.Thr1431Pro) c.4351A>C (p.Thr1451Pro) c.4246A>C (p.Thr1416Pro) | |
| 2 | g.26467156C>A | CA346136885 | OTOF | c.4305G>T (p.Lys1435Asn) c.2004G>T (p.Lys668Asn) c.2064G>T (p.Lys688Asn) c.2235G>T (p.Lys745Asn) c.4290G>T (p.Lys1430Asn) c.4350G>T (p.Lys1450Asn) c.4245G>T (p.Lys1415Asn) | |
| 2 | g.26467156C>G | CA346136886 | OTOF | c.4305G>C (p.Lys1435Asn) c.2004G>C (p.Lys668Asn) c.2064G>C (p.Lys688Asn) c.2235G>C (p.Lys745Asn) c.4290G>C (p.Lys1430Asn) c.4350G>C (p.Lys1450Asn) c.4245G>C (p.Lys1415Asn) | |
| 2 | g.26467156C>T | CA425359662 | OTOF | c.4305G>A (p.Lys1435=) c.2004G>A (p.Lys668=) c.2064G>A (p.Lys688=) c.2235G>A (p.Lys745=) c.4290G>A (p.Lys1430=) c.4350G>A (p.Lys1450=) c.4245G>A (p.Lys1415=) | gnomAD v4 |
| 2 | g.26467157T>A | CA346136889 | OTOF | c.4304A>T (p.Lys1435Met) c.2003A>T (p.Lys668Met) c.2063A>T (p.Lys688Met) c.2234A>T (p.Lys745Met) c.4289A>T (p.Lys1430Met) c.4349A>T (p.Lys1450Met) c.4244A>T (p.Lys1415Met) | |
| 2 | g.26467157T>C | CA346136892 | OTOF | c.4304A>G (p.Lys1435Arg) c.2003A>G (p.Lys668Arg) c.2063A>G (p.Lys688Arg) c.2234A>G (p.Lys745Arg) c.4289A>G (p.Lys1430Arg) c.4349A>G (p.Lys1450Arg) c.4244A>G (p.Lys1415Arg) | |
| 2 | g.26467157T>G | CA346136890 | OTOF | c.4304A>C (p.Lys1435Thr) c.2003A>C (p.Lys668Thr) c.2063A>C (p.Lys688Thr) c.2234A>C (p.Lys745Thr) c.4289A>C (p.Lys1430Thr) c.4349A>C (p.Lys1450Thr) c.4244A>C (p.Lys1415Thr) | |
| 2 | g.26467158T>A | CA346136893 | OTOF | c.4303A>T (p.Lys1435Ter) c.2002A>T (p.Lys668Ter) c.2062A>T (p.Lys688Ter) c.2233A>T (p.Lys745Ter) c.4288A>T (p.Lys1430Ter) c.4348A>T (p.Lys1450Ter) c.4243A>T (p.Lys1415Ter) | |
| 2 | g.26467158T>C | CA346136894 | OTOF | c.4303A>G (p.Lys1435Glu) c.2002A>G (p.Lys668Glu) c.2062A>G (p.Lys688Glu) c.2233A>G (p.Lys745Glu) c.4288A>G (p.Lys1430Glu) c.4348A>G (p.Lys1450Glu) c.4243A>G (p.Lys1415Glu) | |
| 2 | g.26467158T>G | CA346136896 | OTOF | c.4303A>C (p.Lys1435Gln) c.2002A>C (p.Lys668Gln) c.2062A>C (p.Lys688Gln) c.2233A>C (p.Lys745Gln) c.4288A>C (p.Lys1430Gln) c.4348A>C (p.Lys1450Gln) c.4243A>C (p.Lys1415Gln) | |
| 2 | g.26467159G>A | CA425359663 | OTOF | c.4302C>T (p.Gly1434=) c.2001C>T (p.Gly667=) c.2061C>T (p.Gly687=) c.2232C>T (p.Gly744=) c.4287C>T (p.Gly1429=) c.4347C>T (p.Gly1449=) c.4242C>T (p.Gly1414=) | |
| 2 | g.26467159G>C | CA425359665 | OTOF | c.4302C>G (p.Gly1434=) c.2001C>G (p.Gly667=) c.2061C>G (p.Gly687=) c.2232C>G (p.Gly744=) c.4287C>G (p.Gly1429=) c.4347C>G (p.Gly1449=) c.4242C>G (p.Gly1414=) | |
| 2 | g.26467159G>T | CA425359664 | OTOF | c.4302C>A (p.Gly1434=) c.2001C>A (p.Gly667=) c.2061C>A (p.Gly687=) c.2232C>A (p.Gly744=) c.4287C>A (p.Gly1429=) c.4347C>A (p.Gly1449=) c.4242C>A (p.Gly1414=) | gnomAD v4 |
| 2 | g.26467160C>A | CA346136898 | OTOF | c.4301G>T (p.Gly1434Val) c.2000G>T (p.Gly667Val) c.2060G>T (p.Gly687Val) c.2231G>T (p.Gly744Val) c.4286G>T (p.Gly1429Val) c.4346G>T (p.Gly1449Val) c.4241G>T (p.Gly1414Val) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26467160C= | CA1239817961 | OTOF | c.4301G= (p.Gly1434=) c.2000G= (p.Gly667=) c.2060G= (p.Gly687=) c.2231G= (p.Gly744=) c.4286G= (p.Gly1429=) c.4346G= (p.Gly1449=) c.4241G= (p.Gly1414=) | |
| 2 | g.26467160C>G | CA346136899 | OTOF | c.4301G>C (p.Gly1434Ala) c.2000G>C (p.Gly667Ala) c.2060G>C (p.Gly687Ala) c.2231G>C (p.Gly744Ala) c.4286G>C (p.Gly1429Ala) c.4346G>C (p.Gly1449Ala) c.4241G>C (p.Gly1414Ala) | |
| 2 | g.26467160C>T | CA346136900 | OTOF | c.4301G>A (p.Gly1434Asp) c.2000G>A (p.Gly667Asp) c.2060G>A (p.Gly687Asp) c.2231G>A (p.Gly744Asp) c.4286G>A (p.Gly1429Asp) c.4346G>A (p.Gly1449Asp) c.4241G>A (p.Gly1414Asp) | gnomAD v4 |
| 2 | g.26467163dup | CA2658234816 | OTOF | c.4301dup (p.Lys1435GlnfsTer5) c.2000dup (p.Lys668GlnfsTer5) c.2060dup (p.Lys688GlnfsTer5) c.2231dup (p.Lys745GlnfsTer5) c.4286dup (p.Lys1430GlnfsTer5) c.4346dup (p.Lys1450GlnfsTer5) c.4241dup (p.Lys1415GlnfsTer5) | ClinVar gnomAD v4 |
| 2 | g.26467161C>A | CA346136901 | OTOF | c.4300G>T (p.Gly1434Cys) c.1999G>T (p.Gly667Cys) c.2059G>T (p.Gly687Cys) c.2230G>T (p.Gly744Cys) c.4285G>T (p.Gly1429Cys) c.4345G>T (p.Gly1449Cys) c.4240G>T (p.Gly1414Cys) | |
| 2 | g.26467161C>G | CA346136902 | OTOF | c.4300G>C (p.Gly1434Arg) c.1999G>C (p.Gly667Arg) c.2059G>C (p.Gly687Arg) c.2230G>C (p.Gly744Arg) c.4285G>C (p.Gly1429Arg) c.4345G>C (p.Gly1449Arg) c.4240G>C (p.Gly1414Arg) | |
| 2 | g.26467161C>T | CA346136903 | OTOF | c.4300G>A (p.Gly1434Ser) c.1999G>A (p.Gly667Ser) c.2059G>A (p.Gly687Ser) c.2230G>A (p.Gly744Ser) c.4285G>A (p.Gly1429Ser) c.4345G>A (p.Gly1449Ser) c.4240G>A (p.Gly1414Ser) | |
| 2 | g.26467162C>A | CA425359669 | OTOF | c.4299G>T (p.Arg1433=) c.1998G>T (p.Arg666=) c.2058G>T (p.Arg686=) c.2229G>T (p.Arg743=) c.4284G>T (p.Arg1428=) c.4344G>T (p.Arg1448=) c.4239G>T (p.Arg1413=) | |
| 2 | g.26467162C>G | CA425359670 | OTOF | c.4299G>C (p.Arg1433=) c.1998G>C (p.Arg666=) c.2058G>C (p.Arg686=) c.2229G>C (p.Arg743=) c.4284G>C (p.Arg1428=) c.4344G>C (p.Arg1448=) c.4239G>C (p.Arg1413=) | gnomAD v4 |
| 2 | g.26467162C>T | CA425359671 | OTOF | c.4299G>A (p.Arg1433=) c.1998G>A (p.Arg666=) c.2058G>A (p.Arg686=) c.2229G>A (p.Arg743=) c.4284G>A (p.Arg1428=) c.4344G>A (p.Arg1448=) c.4239G>A (p.Arg1413=) | |
| 2 | g.26467163C>A | CA346136905 | OTOF | c.4298G>T (p.Arg1433Leu) c.1997G>T (p.Arg666Leu) c.2057G>T (p.Arg686Leu) c.2228G>T (p.Arg743Leu) c.4283G>T (p.Arg1428Leu) c.4343G>T (p.Arg1448Leu) c.4238G>T (p.Arg1413Leu) | COSMIC COSMIC COSMIC |
| 2 | g.26467163C= | CA1239817965 | OTOF | c.4298G= (p.Arg1433=) c.1997G= (p.Arg666=) c.2057G= (p.Arg686=) c.2228G= (p.Arg743=) c.4283G= (p.Arg1428=) c.4343G= (p.Arg1448=) c.4238G= (p.Arg1413=) | |
| 2 | g.26467163C>G | CA346136906 | OTOF | c.4298G>C (p.Arg1433Pro) c.1997G>C (p.Arg666Pro) c.2057G>C (p.Arg686Pro) c.2228G>C (p.Arg743Pro) c.4283G>C (p.Arg1428Pro) c.4343G>C (p.Arg1448Pro) c.4238G>C (p.Arg1413Pro) | |
| 2 | g.26467163C>T | CA1563222 | OTOF | c.4298G>A (p.Arg1433Gln) c.1997G>A (p.Arg666Gln) c.2057G>A (p.Arg686Gln) c.2228G>A (p.Arg743Gln) c.4283G>A (p.Arg1428Gln) c.4343G>A (p.Arg1448Gln) c.4238G>A (p.Arg1413Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26467164G>A | CA1563223 | OTOF | c.4297C>T (p.Arg1433Trp) c.1996C>T (p.Arg666Trp) c.2056C>T (p.Arg686Trp) c.2227C>T (p.Arg743Trp) c.4282C>T (p.Arg1428Trp) c.4342C>T (p.Arg1448Trp) c.4237C>T (p.Arg1413Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26467164G>C | CA346136908 | OTOF | c.4297C>G (p.Arg1433Gly) c.1996C>G (p.Arg666Gly) c.2056C>G (p.Arg686Gly) c.2227C>G (p.Arg743Gly) c.4282C>G (p.Arg1428Gly) c.4342C>G (p.Arg1448Gly) c.4237C>G (p.Arg1413Gly) | |
| 2 | g.26467164G= | CA1239817969 | OTOF | c.4297C= (p.Arg1433=) c.1996C= (p.Arg666=) c.2056C= (p.Arg686=) c.2227C= (p.Arg743=) c.4282C= (p.Arg1428=) c.4342C= (p.Arg1448=) c.4237C= (p.Arg1413=) | |
| 2 | g.26467164G>T | CA425359676 | OTOF | c.4297C>A (p.Arg1433=) c.1996C>A (p.Arg666=) c.2056C>A (p.Arg686=) c.2227C>A (p.Arg743=) c.4282C>A (p.Arg1428=) c.4342C>A (p.Arg1448=) c.4237C>A (p.Arg1413=) | |
| 2 | g.26467165A>C | CA425359681 | OTOF | c.4296T>G (p.Leu1432=) c.1995T>G (p.Leu665=) c.2055T>G (p.Leu685=) c.2226T>G (p.Leu742=) c.4281T>G (p.Leu1427=) c.4341T>G (p.Leu1447=) c.4236T>G (p.Leu1412=) | |
| 2 | g.26467165A>G | CA425359683 | OTOF | c.4296T>C (p.Leu1432=) c.1995T>C (p.Leu665=) c.2055T>C (p.Leu685=) c.2226T>C (p.Leu742=) c.4281T>C (p.Leu1427=) c.4341T>C (p.Leu1447=) c.4236T>C (p.Leu1412=) | |
| 2 | g.26467165A>T | CA425359684 | OTOF | c.4296T>A (p.Leu1432=) c.1995T>A (p.Leu665=) c.2055T>A (p.Leu685=) c.2226T>A (p.Leu742=) c.4281T>A (p.Leu1427=) c.4341T>A (p.Leu1447=) c.4236T>A (p.Leu1412=) | |
| 2 | g.26467166A= | CA1239817972 | OTOF | c.4295T= (p.Leu1432=) c.1994T= (p.Leu665=) c.2054T= (p.Leu685=) c.2225T= (p.Leu742=) c.4280T= (p.Leu1427=) c.4340T= (p.Leu1447=) c.4235T= (p.Leu1412=) | |
| 2 | g.26467166A>C | CA346136910 | OTOF | c.4295T>G (p.Leu1432Arg) c.1994T>G (p.Leu665Arg) c.2054T>G (p.Leu685Arg) c.2225T>G (p.Leu742Arg) c.4280T>G (p.Leu1427Arg) c.4340T>G (p.Leu1447Arg) c.4235T>G (p.Leu1412Arg) | |
| 2 | g.26467166A>G | CA346136912 | OTOF | c.4295T>C (p.Leu1432Pro) c.1994T>C (p.Leu665Pro) c.2054T>C (p.Leu685Pro) c.2225T>C (p.Leu742Pro) c.4280T>C (p.Leu1427Pro) c.4340T>C (p.Leu1447Pro) c.4235T>C (p.Leu1412Pro) | |
| 2 | g.26467166A>T | CA346136913 | OTOF | c.4295T>A (p.Leu1432His) c.1994T>A (p.Leu665His) c.2054T>A (p.Leu685His) c.2225T>A (p.Leu742His) c.4280T>A (p.Leu1427His) c.4340T>A (p.Leu1447His) c.4235T>A (p.Leu1412His) | dbSNP |
| 2 | g.26467167G>A | CA346136914 | OTOF | c.4294C>T (p.Leu1432Phe) c.1993C>T (p.Leu665Phe) c.2053C>T (p.Leu685Phe) c.2224C>T (p.Leu742Phe) c.4279C>T (p.Leu1427Phe) c.4339C>T (p.Leu1447Phe) c.4234C>T (p.Leu1412Phe) | |
| 2 | g.26467167G>C | CA346136915 | OTOF | c.4294C>G (p.Leu1432Val) c.1993C>G (p.Leu665Val) c.2053C>G (p.Leu685Val) c.2224C>G (p.Leu742Val) c.4279C>G (p.Leu1427Val) c.4339C>G (p.Leu1447Val) c.4234C>G (p.Leu1412Val) | |
| 2 | g.26467167G>T | CA346136917 | OTOF | c.4294C>A (p.Leu1432Ile) c.1993C>A (p.Leu665Ile) c.2053C>A (p.Leu685Ile) c.2224C>A (p.Leu742Ile) c.4279C>A (p.Leu1427Ile) c.4339C>A (p.Leu1447Ile) c.4234C>A (p.Leu1412Ile) | |
| 2 | g.26467168C>A | CA346136918 | OTOF | c.4293G>T (p.Leu1431Phe) c.1992G>T (p.Leu664Phe) c.2052G>T (p.Leu684Phe) c.2223G>T (p.Leu741Phe) c.4278G>T (p.Leu1426Phe) c.4338G>T (p.Leu1446Phe) c.4233G>T (p.Leu1411Phe) | COSMIC COSMIC COSMIC |
| 2 | g.26467168C>G | CA346136920 | OTOF | c.4293G>C (p.Leu1431Phe) c.1992G>C (p.Leu664Phe) c.2052G>C (p.Leu684Phe) c.2223G>C (p.Leu741Phe) c.4278G>C (p.Leu1426Phe) c.4338G>C (p.Leu1446Phe) c.4233G>C (p.Leu1411Phe) | |
| 2 | g.26467168C>T | CA425359687 | OTOF | c.4293G>A (p.Leu1431=) c.1992G>A (p.Leu664=) c.2052G>A (p.Leu684=) c.2223G>A (p.Leu741=) c.4278G>A (p.Leu1426=) c.4338G>A (p.Leu1446=) c.4233G>A (p.Leu1411=) | |
| 2 | g.26467169A= | CA1239817973 | OTOF | c.4292T= (p.Leu1431=) c.1991T= (p.Leu664=) c.2051T= (p.Leu684=) c.2222T= (p.Leu741=) c.4277T= (p.Leu1426=) c.4337T= (p.Leu1446=) c.4232T= (p.Leu1411=) | |
| 2 | g.26467169A>C | CA346136921 | OTOF | c.4292T>G (p.Leu1431Trp) c.1991T>G (p.Leu664Trp) c.2051T>G (p.Leu684Trp) c.2222T>G (p.Leu741Trp) c.4277T>G (p.Leu1426Trp) c.4337T>G (p.Leu1446Trp) c.4232T>G (p.Leu1411Trp) | |
| 2 | g.26467169A>G | CA1563224 | OTOF | c.4292T>C (p.Leu1431Ser) c.1991T>C (p.Leu664Ser) c.2051T>C (p.Leu684Ser) c.2222T>C (p.Leu741Ser) c.4277T>C (p.Leu1426Ser) c.4337T>C (p.Leu1446Ser) c.4232T>C (p.Leu1411Ser) | dbSNP ExAC gnomAD v4 |
| 2 | g.26467169A>T | CA346136923 | OTOF | c.4292T>A (p.Leu1431Ter) c.1991T>A (p.Leu664Ter) c.2051T>A (p.Leu684Ter) c.2222T>A (p.Leu741Ter) c.4277T>A (p.Leu1426Ter) c.4337T>A (p.Leu1446Ter) c.4232T>A (p.Leu1411Ter) | |
| 2 | g.26467169_26467172dup | CA2658234817 | OTOF | c.4289_4292dup (p.Arg1433AlafsTer8) c.1988_1991dup (p.Arg666AlafsTer8) c.2048_2051dup (p.Arg686AlafsTer8) c.2219_2222dup (p.Arg743AlafsTer8) c.4274_4277dup (p.Arg1428AlafsTer8) c.4334_4337dup (p.Arg1448AlafsTer8) c.4229_4232dup (p.Arg1413AlafsTer8) | ClinVar gnomAD v4 |
| 2 | g.26467170A= | CA1239817975 | OTOF | c.4291T= (p.Leu1431=) c.1990T= (p.Leu664=) c.2050T= (p.Leu684=) c.2221T= (p.Leu741=) c.4276T= (p.Leu1426=) c.4336T= (p.Leu1446=) c.4231T= (p.Leu1411=) | |
| 2 | g.26467170A>C | CA346136927 | OTOF | c.4291T>G (p.Leu1431Val) c.1990T>G (p.Leu664Val) c.2050T>G (p.Leu684Val) c.2221T>G (p.Leu741Val) c.4276T>G (p.Leu1426Val) c.4336T>G (p.Leu1446Val) c.4231T>G (p.Leu1411Val) | |
| 2 | g.26467170A>G | CA44413723 | OTOF | c.4291T>C (p.Leu1431=) c.1990T>C (p.Leu664=) c.2050T>C (p.Leu684=) c.2221T>C (p.Leu741=) c.4276T>C (p.Leu1426=) c.4336T>C (p.Leu1446=) c.4231T>C (p.Leu1411=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26467170A>T | CA346136925 | OTOF | c.4291T>A (p.Leu1431Met) c.1990T>A (p.Leu664Met) c.2050T>A (p.Leu684Met) c.2221T>A (p.Leu741Met) c.4276T>A (p.Leu1426Met) c.4336T>A (p.Leu1446Met) c.4231T>A (p.Leu1411Met) | |
| 2 | g.26467171G>A | CA1563225 | OTOF | c.4290C>T (p.Asn1430=) c.1989C>T (p.Asn663=) c.2049C>T (p.Asn683=) c.2220C>T (p.Asn740=) c.4275C>T (p.Asn1425=) c.4335C>T (p.Asn1445=) c.4230C>T (p.Asn1410=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26467171G>C | CA346136929 | OTOF | c.4290C>G (p.Asn1430Lys) c.1989C>G (p.Asn663Lys) c.2049C>G (p.Asn683Lys) c.2220C>G (p.Asn740Lys) c.4275C>G (p.Asn1425Lys) c.4335C>G (p.Asn1445Lys) c.4230C>G (p.Asn1410Lys) | gnomAD v4 |
| 2 | g.26467171G= | CA1239817979 | OTOF | c.4290C= (p.Asn1430=) c.1989C= (p.Asn663=) c.2049C= (p.Asn683=) c.2220C= (p.Asn740=) c.4275C= (p.Asn1425=) c.4335C= (p.Asn1445=) c.4230C= (p.Asn1410=) | |
| 2 | g.26467171G>T | CA346136930 | OTOF | c.4290C>A (p.Asn1430Lys) c.1989C>A (p.Asn663Lys) c.2049C>A (p.Asn683Lys) c.2220C>A (p.Asn740Lys) c.4275C>A (p.Asn1425Lys) c.4335C>A (p.Asn1445Lys) c.4230C>A (p.Asn1410Lys) | |
| 2 | g.26467172T>A | CA346136932 | OTOF | c.4289A>T (p.Asn1430Ile) c.1988A>T (p.Asn663Ile) c.2048A>T (p.Asn683Ile) c.2219A>T (p.Asn740Ile) c.4274A>T (p.Asn1425Ile) c.4334A>T (p.Asn1445Ile) c.4229A>T (p.Asn1410Ile) | |
| 2 | g.26467172T>C | CA1563226 | OTOF | c.4289A>G (p.Asn1430Ser) c.1988A>G (p.Asn663Ser) c.2048A>G (p.Asn683Ser) c.2219A>G (p.Asn740Ser) c.4274A>G (p.Asn1425Ser) c.4334A>G (p.Asn1445Ser) c.4229A>G (p.Asn1410Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26467172T>G | CA346136934 | OTOF | c.4289A>C (p.Asn1430Thr) c.1988A>C (p.Asn663Thr) c.2048A>C (p.Asn683Thr) c.2219A>C (p.Asn740Thr) c.4274A>C (p.Asn1425Thr) c.4334A>C (p.Asn1445Thr) c.4229A>C (p.Asn1410Thr) | gnomAD v4 |
| 2 | g.26467172T= | CA1239817983 | OTOF | c.4289A= (p.Asn1430=) c.1988A= (p.Asn663=) c.2048A= (p.Asn683=) c.2219A= (p.Asn740=) c.4274A= (p.Asn1425=) c.4334A= (p.Asn1445=) c.4229A= (p.Asn1410=) | |
| 2 | g.26467173T>A | CA346136938 | OTOF | c.4288A>T (p.Asn1430Tyr) c.1987A>T (p.Asn663Tyr) c.2047A>T (p.Asn683Tyr) c.2218A>T (p.Asn740Tyr) c.4273A>T (p.Asn1425Tyr) c.4333A>T (p.Asn1445Tyr) c.4228A>T (p.Asn1410Tyr) | |
| 2 | g.26467173T>C | CA346136935 | OTOF | c.4288A>G (p.Asn1430Asp) c.1987A>G (p.Asn663Asp) c.2047A>G (p.Asn683Asp) c.2218A>G (p.Asn740Asp) c.4273A>G (p.Asn1425Asp) c.4333A>G (p.Asn1445Asp) c.4228A>G (p.Asn1410Asp) | |
| 2 | g.26467173T>G | CA346136937 | OTOF | c.4288A>C (p.Asn1430His) c.1987A>C (p.Asn663His) c.2047A>C (p.Asn683His) c.2218A>C (p.Asn740His) c.4273A>C (p.Asn1425His) c.4333A>C (p.Asn1445His) c.4228A>C (p.Asn1410His) | |
| 2 | g.26467174G>A | CA425359698 | OTOF | c.4287C>T (p.Phe1429=) c.1986C>T (p.Phe662=) c.2046C>T (p.Phe682=) c.2217C>T (p.Phe739=) c.4272C>T (p.Phe1424=) c.4332C>T (p.Phe1444=) c.4227C>T (p.Phe1409=) | gnomAD v4 COSMIC COSMIC COSMIC |
| 2 | g.26467174G>C | CA346136939 | OTOF | c.4287C>G (p.Phe1429Leu) c.1986C>G (p.Phe662Leu) c.2046C>G (p.Phe682Leu) c.2217C>G (p.Phe739Leu) c.4272C>G (p.Phe1424Leu) c.4332C>G (p.Phe1444Leu) c.4227C>G (p.Phe1409Leu) | |
| 2 | g.26467174G>T | CA346136940 | OTOF | c.4287C>A (p.Phe1429Leu) c.1986C>A (p.Phe662Leu) c.2046C>A (p.Phe682Leu) c.2217C>A (p.Phe739Leu) c.4272C>A (p.Phe1424Leu) c.4332C>A (p.Phe1444Leu) c.4227C>A (p.Phe1409Leu) | |
| 2 | g.26467175A>C | CA346136942 | OTOF | c.4286T>G (p.Phe1429Cys) c.1985T>G (p.Phe662Cys) c.2045T>G (p.Phe682Cys) c.2216T>G (p.Phe739Cys) c.4271T>G (p.Phe1424Cys) c.4331T>G (p.Phe1444Cys) c.4226T>G (p.Phe1409Cys) | |
| 2 | g.26467175A>G | CA346136943 | OTOF | c.4286T>C (p.Phe1429Ser) c.1985T>C (p.Phe662Ser) c.2045T>C (p.Phe682Ser) c.2216T>C (p.Phe739Ser) c.4271T>C (p.Phe1424Ser) c.4331T>C (p.Phe1444Ser) c.4226T>C (p.Phe1409Ser) | |
| 2 | g.26467175A>T | CA346136944 | OTOF | c.4286T>A (p.Phe1429Tyr) c.1985T>A (p.Phe662Tyr) c.2045T>A (p.Phe682Tyr) c.2216T>A (p.Phe739Tyr) c.4271T>A (p.Phe1424Tyr) c.4331T>A (p.Phe1444Tyr) c.4226T>A (p.Phe1409Tyr) | |
| 2 | g.26467176A>C | CA346136946 | OTOF | c.4285T>G (p.Phe1429Val) c.1984T>G (p.Phe662Val) c.2044T>G (p.Phe682Val) c.2215T>G (p.Phe739Val) c.4270T>G (p.Phe1424Val) c.4330T>G (p.Phe1444Val) c.4225T>G (p.Phe1409Val) | |
| 2 | g.26467176A>G | CA346136949 | OTOF | c.4285T>C (p.Phe1429Leu) c.1984T>C (p.Phe662Leu) c.2044T>C (p.Phe682Leu) c.2215T>C (p.Phe739Leu) c.4270T>C (p.Phe1424Leu) c.4330T>C (p.Phe1444Leu) c.4225T>C (p.Phe1409Leu) | |
| 2 | g.26467176A>T | CA346136948 | OTOF | c.4285T>A (p.Phe1429Ile) c.1984T>A (p.Phe662Ile) c.2044T>A (p.Phe682Ile) c.2215T>A (p.Phe739Ile) c.4270T>A (p.Phe1424Ile) c.4330T>A (p.Phe1444Ile) c.4225T>A (p.Phe1409Ile) | |
| 2 | g.26467177A>C | CA425359703 | OTOF | c.4284T>G (p.Thr1428=) c.1983T>G (p.Thr661=) c.2043T>G (p.Thr681=) c.2214T>G (p.Thr738=) c.4269T>G (p.Thr1423=) c.4329T>G (p.Thr1443=) c.4224T>G (p.Thr1408=) | |
| 2 | g.26467177A>G | CA425359705 | OTOF | c.4284T>C (p.Thr1428=) c.1983T>C (p.Thr661=) c.2043T>C (p.Thr681=) c.2214T>C (p.Thr738=) c.4269T>C (p.Thr1423=) c.4329T>C (p.Thr1443=) c.4224T>C (p.Thr1408=) | |
| 2 | g.26467177A>T | CA425359704 | OTOF | c.4284T>A (p.Thr1428=) c.1983T>A (p.Thr661=) c.2043T>A (p.Thr681=) c.2214T>A (p.Thr738=) c.4269T>A (p.Thr1423=) c.4329T>A (p.Thr1443=) c.4224T>A (p.Thr1408=) | |
| 2 | g.26467178G>A | CA346136950 | OTOF | c.4283C>T (p.Thr1428Ile) c.1982C>T (p.Thr661Ile) c.2042C>T (p.Thr681Ile) c.2213C>T (p.Thr738Ile) c.4268C>T (p.Thr1423Ile) c.4328C>T (p.Thr1443Ile) c.4223C>T (p.Thr1408Ile) | |
| 2 | g.26467178G>C | CA346136952 | OTOF | c.4283C>G (p.Thr1428Ser) c.1982C>G (p.Thr661Ser) c.2042C>G (p.Thr681Ser) c.2213C>G (p.Thr738Ser) c.4268C>G (p.Thr1423Ser) c.4328C>G (p.Thr1443Ser) c.4223C>G (p.Thr1408Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26467178G= | CA1239817985 | OTOF | c.4283C= (p.Thr1428=) c.1982C= (p.Thr661=) c.2042C= (p.Thr681=) c.2213C= (p.Thr738=) c.4268C= (p.Thr1423=) c.4328C= (p.Thr1443=) c.4223C= (p.Thr1408=) | |
| 2 | g.26467178G>T | CA1563227 | OTOF | c.4283C>A (p.Thr1428Asn) c.1982C>A (p.Thr661Asn) c.2042C>A (p.Thr681Asn) c.2213C>A (p.Thr738Asn) c.4268C>A (p.Thr1423Asn) c.4328C>A (p.Thr1443Asn) c.4223C>A (p.Thr1408Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26467179T>A | CA346136954 | OTOF | c.4282A>T (p.Thr1428Ser) c.1981A>T (p.Thr661Ser) c.2041A>T (p.Thr681Ser) c.2212A>T (p.Thr738Ser) c.4267A>T (p.Thr1423Ser) c.4327A>T (p.Thr1443Ser) c.4222A>T (p.Thr1408Ser) | |
| 2 | g.26467179T>C | CA346136956 | OTOF | c.4282A>G (p.Thr1428Ala) c.1981A>G (p.Thr661Ala) c.2041A>G (p.Thr681Ala) c.2212A>G (p.Thr738Ala) c.4267A>G (p.Thr1423Ala) c.4327A>G (p.Thr1443Ala) c.4222A>G (p.Thr1408Ala) | gnomAD v4 |
| 2 | g.26467179T>G | CA346136957 | OTOF | c.4282A>C (p.Thr1428Pro) c.1981A>C (p.Thr661Pro) c.2041A>C (p.Thr681Pro) c.2212A>C (p.Thr738Pro) c.4267A>C (p.Thr1423Pro) c.4327A>C (p.Thr1443Pro) c.4222A>C (p.Thr1408Pro) | |
| 2 | g.26467180G>A | CA425359711 | OTOF | c.4281C>T (p.His1427=) c.1980C>T (p.His660=) c.2040C>T (p.His680=) c.2211C>T (p.His737=) c.4266C>T (p.His1422=) c.4326C>T (p.His1442=) c.4221C>T (p.His1407=) | ClinVar |
| 2 | g.26467180G>C | CA346136958 | OTOF | c.4281C>G (p.His1427Gln) c.1980C>G (p.His660Gln) c.2040C>G (p.His680Gln) c.2211C>G (p.His737Gln) c.4266C>G (p.His1422Gln) c.4326C>G (p.His1442Gln) c.4221C>G (p.His1407Gln) | |
| 2 | g.26467180G>T | CA346136960 | OTOF | c.4281C>A (p.His1427Gln) c.1980C>A (p.His660Gln) c.2040C>A (p.His680Gln) c.2211C>A (p.His737Gln) c.4266C>A (p.His1422Gln) c.4326C>A (p.His1442Gln) c.4221C>A (p.His1407Gln) | |
| 2 | g.26467181T>A | CA346136962 | OTOF | c.4280A>T (p.His1427Leu) c.1979A>T (p.His660Leu) c.2039A>T (p.His680Leu) c.2210A>T (p.His737Leu) c.4265A>T (p.His1422Leu) c.4325A>T (p.His1442Leu) c.4220A>T (p.His1407Leu) | gnomAD v4 |
| 2 | g.26467181T>C | CA346136964 | OTOF | c.4280A>G (p.His1427Arg) c.1979A>G (p.His660Arg) c.2039A>G (p.His680Arg) c.2210A>G (p.His737Arg) c.4265A>G (p.His1422Arg) c.4325A>G (p.His1442Arg) c.4220A>G (p.His1407Arg) | |
| 2 | g.26467181T>G | CA346136965 | OTOF | c.4280A>C (p.His1427Pro) c.1979A>C (p.His660Pro) c.2039A>C (p.His680Pro) c.2210A>C (p.His737Pro) c.4265A>C (p.His1422Pro) c.4325A>C (p.His1442Pro) c.4220A>C (p.His1407Pro) | |
| 2 | g.26467182G>A | CA346136967 | OTOF | c.4279C>T (p.His1427Tyr) c.1978C>T (p.His660Tyr) c.2038C>T (p.His680Tyr) c.2209C>T (p.His737Tyr) c.4264C>T (p.His1422Tyr) c.4324C>T (p.His1442Tyr) c.4219C>T (p.His1407Tyr) | |
| 2 | g.26467182G>C | CA346136968 | OTOF | c.4279C>G (p.His1427Asp) c.1978C>G (p.His660Asp) c.2038C>G (p.His680Asp) c.2209C>G (p.His737Asp) c.4264C>G (p.His1422Asp) c.4324C>G (p.His1442Asp) c.4219C>G (p.His1407Asp) | |
| 2 | g.26467182G>T | CA346136966 | OTOF | c.4279C>A (p.His1427Asn) c.1978C>A (p.His660Asn) c.2038C>A (p.His680Asn) c.2209C>A (p.His737Asn) c.4264C>A (p.His1422Asn) c.4324C>A (p.His1442Asn) c.4219C>A (p.His1407Asn) | |
| 2 | g.26467183C>A | CA425359717 | OTOF | c.4278G>T (p.Leu1426=) c.1977G>T (p.Leu659=) c.2037G>T (p.Leu679=) c.2208G>T (p.Leu736=) c.4263G>T (p.Leu1421=) c.4323G>T (p.Leu1441=) c.4218G>T (p.Leu1406=) | |
| 2 | g.26467183C>G | CA425359718 | OTOF | c.4278G>C (p.Leu1426=) c.1977G>C (p.Leu659=) c.2037G>C (p.Leu679=) c.2208G>C (p.Leu736=) c.4263G>C (p.Leu1421=) c.4323G>C (p.Leu1441=) c.4218G>C (p.Leu1406=) | |
| 2 | g.26467183C>T | CA425359719 | OTOF | c.4278G>A (p.Leu1426=) c.1977G>A (p.Leu659=) c.2037G>A (p.Leu679=) c.2208G>A (p.Leu736=) c.4263G>A (p.Leu1421=) c.4323G>A (p.Leu1441=) c.4218G>A (p.Leu1406=) | |
| 2 | g.26467184A>C | CA346136971 | OTOF | c.4277T>G (p.Leu1426Arg) c.1976T>G (p.Leu659Arg) c.2036T>G (p.Leu679Arg) c.2207T>G (p.Leu736Arg) c.4262T>G (p.Leu1421Arg) c.4322T>G (p.Leu1441Arg) c.4217T>G (p.Leu1406Arg) | |
| 2 | g.26467184A>G | CA346136969 | OTOF | c.4277T>C (p.Leu1426Pro) c.1976T>C (p.Leu659Pro) c.2036T>C (p.Leu679Pro) c.2207T>C (p.Leu736Pro) c.4262T>C (p.Leu1421Pro) c.4322T>C (p.Leu1441Pro) c.4217T>C (p.Leu1406Pro) | |
| 2 | g.26467184A>T | CA346136973 | OTOF | c.4277T>A (p.Leu1426Gln) c.1976T>A (p.Leu659Gln) c.2036T>A (p.Leu679Gln) c.2207T>A (p.Leu736Gln) c.4262T>A (p.Leu1421Gln) c.4322T>A (p.Leu1441Gln) c.4217T>A (p.Leu1406Gln) | |
| 2 | g.26467185G>A | CA425359720 | OTOF | c.4276C>T (p.Leu1426=) c.1975C>T (p.Leu659=) c.2035C>T (p.Leu679=) c.2206C>T (p.Leu736=) c.4261C>T (p.Leu1421=) c.4321C>T (p.Leu1441=) c.4216C>T (p.Leu1406=) | |
| 2 | g.26467185G>C | CA346136974 | OTOF | c.4276C>G (p.Leu1426Val) c.1975C>G (p.Leu659Val) c.2035C>G (p.Leu679Val) c.2206C>G (p.Leu736Val) c.4261C>G (p.Leu1421Val) c.4321C>G (p.Leu1441Val) c.4216C>G (p.Leu1406Val) | |
| 2 | g.26467185G>T | CA346136975 | OTOF | c.4276C>A (p.Leu1426Met) c.1975C>A (p.Leu659Met) c.2035C>A (p.Leu679Met) c.2206C>A (p.Leu736Met) c.4261C>A (p.Leu1421Met) c.4321C>A (p.Leu1441Met) c.4216C>A (p.Leu1406Met) | |
| 2 | g.26467186C>A | CA346136976 | OTOF | c.4275G>T (p.Trp1425Cys) c.1974G>T (p.Trp658Cys) c.2034G>T (p.Trp678Cys) c.2205G>T (p.Trp735Cys) c.4260G>T (p.Trp1420Cys) c.4320G>T (p.Trp1440Cys) c.4215G>T (p.Trp1405Cys) | |
| 2 | g.26467186C= | CA1239817986 | OTOF | c.4275G= (p.Trp1425=) c.1974G= (p.Trp658=) c.2034G= (p.Trp678=) c.2205G= (p.Trp735=) c.4260G= (p.Trp1420=) c.4320G= (p.Trp1440=) c.4215G= (p.Trp1405=) | |
| 2 | g.26467186C>G | CA346136977 | OTOF | c.4275G>C (p.Trp1425Cys) c.1974G>C (p.Trp658Cys) c.2034G>C (p.Trp678Cys) c.2205G>C (p.Trp735Cys) c.4260G>C (p.Trp1420Cys) c.4320G>C (p.Trp1440Cys) c.4215G>C (p.Trp1405Cys) | |
| 2 | g.26467186C>T | CA342570 | OTOF | c.4275G>A (p.Trp1425Ter) c.1974G>A (p.Trp658Ter) c.2034G>A (p.Trp678Ter) c.2205G>A (p.Trp735Ter) c.4260G>A (p.Trp1420Ter) c.4320G>A (p.Trp1440Ter) c.4215G>A (p.Trp1405Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26467187C>A | CA346136979 | OTOF | c.4274G>T (p.Trp1425Leu) c.1973G>T (p.Trp658Leu) c.2033G>T (p.Trp678Leu) c.2204G>T (p.Trp735Leu) c.4259G>T (p.Trp1420Leu) c.4319G>T (p.Trp1440Leu) c.4214G>T (p.Trp1405Leu) | |
| 2 | g.26467187C>G | CA346136981 | OTOF | c.4274G>C (p.Trp1425Ser) c.1973G>C (p.Trp658Ser) c.2033G>C (p.Trp678Ser) c.2204G>C (p.Trp735Ser) c.4259G>C (p.Trp1420Ser) c.4319G>C (p.Trp1440Ser) c.4214G>C (p.Trp1405Ser) | |
| 2 | g.26467187C>T | CA346136982 | OTOF | c.4274G>A (p.Trp1425Ter) c.1973G>A (p.Trp658Ter) c.2033G>A (p.Trp678Ter) c.2204G>A (p.Trp735Ter) c.4259G>A (p.Trp1420Ter) c.4319G>A (p.Trp1440Ter) c.4214G>A (p.Trp1405Ter) | |
| 2 | g.26467188A>C | CA346136984 | OTOF | c.4273T>G (p.Trp1425Gly) c.1972T>G (p.Trp658Gly) c.2032T>G (p.Trp678Gly) c.2203T>G (p.Trp735Gly) c.4258T>G (p.Trp1420Gly) c.4318T>G (p.Trp1440Gly) c.4213T>G (p.Trp1405Gly) | |
| 2 | g.26467188A>G | CA346136986 | OTOF | c.4273T>C (p.Trp1425Arg) c.1972T>C (p.Trp658Arg) c.2032T>C (p.Trp678Arg) c.2203T>C (p.Trp735Arg) c.4258T>C (p.Trp1420Arg) c.4318T>C (p.Trp1440Arg) c.4213T>C (p.Trp1405Arg) | |
| 2 | g.26467188A>T | CA346136987 | OTOF | c.4273T>A (p.Trp1425Arg) c.1972T>A (p.Trp658Arg) c.2032T>A (p.Trp678Arg) c.2203T>A (p.Trp735Arg) c.4258T>A (p.Trp1420Arg) c.4318T>A (p.Trp1440Arg) c.4213T>A (p.Trp1405Arg) | |
| 2 | g.26467189G>A | CA425359725 | OTOF | c.4272C>T (p.Asp1424=) c.1971C>T (p.Asp657=) c.2031C>T (p.Asp677=) c.2202C>T (p.Asp734=) c.4257C>T (p.Asp1419=) c.4317C>T (p.Asp1439=) c.4212C>T (p.Asp1404=) | |
| 2 | g.26467189G>C | CA346136988 | OTOF | c.4272C>G (p.Asp1424Glu) c.1971C>G (p.Asp657Glu) c.2031C>G (p.Asp677Glu) c.2202C>G (p.Asp734Glu) c.4257C>G (p.Asp1419Glu) c.4317C>G (p.Asp1439Glu) c.4212C>G (p.Asp1404Glu) | |
| 2 | g.26467189G>T | CA346136990 | OTOF | c.4272C>A (p.Asp1424Glu) c.1971C>A (p.Asp657Glu) c.2031C>A (p.Asp677Glu) c.2202C>A (p.Asp734Glu) c.4257C>A (p.Asp1419Glu) c.4317C>A (p.Asp1439Glu) c.4212C>A (p.Asp1404Glu) | |
| 2 | g.26467190T>A | CA346136995 | OTOF | c.4271A>T (p.Asp1424Val) c.1970A>T (p.Asp657Val) c.2030A>T (p.Asp677Val) c.2201A>T (p.Asp734Val) c.4256A>T (p.Asp1419Val) c.4316A>T (p.Asp1439Val) c.4211A>T (p.Asp1404Val) | |
| 2 | g.26467190T>C | CA346136993 | OTOF | c.4271A>G (p.Asp1424Gly) c.1970A>G (p.Asp657Gly) c.2030A>G (p.Asp677Gly) c.2201A>G (p.Asp734Gly) c.4256A>G (p.Asp1419Gly) c.4316A>G (p.Asp1439Gly) c.4211A>G (p.Asp1404Gly) | |
| 2 | g.26467190T>G | CA346136991 | OTOF | c.4271A>C (p.Asp1424Ala) c.1970A>C (p.Asp657Ala) c.2030A>C (p.Asp677Ala) c.2201A>C (p.Asp734Ala) c.4256A>C (p.Asp1419Ala) c.4316A>C (p.Asp1439Ala) c.4211A>C (p.Asp1404Ala) | |
| 2 | g.26467191C>A | CA346136996 | OTOF | c.4270G>T (p.Asp1424Tyr) c.1969G>T (p.Asp657Tyr) c.2029G>T (p.Asp677Tyr) c.2200G>T (p.Asp734Tyr) c.4255G>T (p.Asp1419Tyr) c.4315G>T (p.Asp1439Tyr) c.4210G>T (p.Asp1404Tyr) | |
| 2 | g.26467191C= | CA1239817992 | OTOF | c.4270G= (p.Asp1424=) c.1969G= (p.Asp657=) c.2029G= (p.Asp677=) c.2200G= (p.Asp734=) c.4255G= (p.Asp1419=) c.4315G= (p.Asp1439=) c.4210G= (p.Asp1404=) | |
| 2 | g.26467191C>G | CA346136997 | OTOF | c.4270G>C (p.Asp1424His) c.1969G>C (p.Asp657His) c.2029G>C (p.Asp677His) c.2200G>C (p.Asp734His) c.4255G>C (p.Asp1419His) c.4315G>C (p.Asp1439His) c.4210G>C (p.Asp1404His) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26467191C>T | CA346136999 | OTOF | c.4270G>A (p.Asp1424Asn) c.1969G>A (p.Asp657Asn) c.2029G>A (p.Asp677Asn) c.2200G>A (p.Asp734Asn) c.4255G>A (p.Asp1419Asn) c.4315G>A (p.Asp1439Asn) c.4210G>A (p.Asp1404Asn) | |
| 2 | g.26467192C>A | CA346137000 | OTOF | c.4269G>T (p.Glu1423Asp) c.1968G>T (p.Glu656Asp) c.2028G>T (p.Glu676Asp) c.2199G>T (p.Glu733Asp) c.4254G>T (p.Glu1418Asp) c.4314G>T (p.Glu1438Asp) c.4209G>T (p.Glu1403Asp) | |
| 2 | g.26467192C= | CA1239817999 | OTOF | c.4269G= (p.Glu1423=) c.1968G= (p.Glu656=) c.2028G= (p.Glu676=) c.2199G= (p.Glu733=) c.4254G= (p.Glu1418=) c.4314G= (p.Glu1438=) c.4209G= (p.Glu1403=) | |
| 2 | g.26467192C>G | CA1563228 | OTOF | c.4269G>C (p.Glu1423Asp) c.1968G>C (p.Glu656Asp) c.2028G>C (p.Glu676Asp) c.2199G>C (p.Glu733Asp) c.4254G>C (p.Glu1418Asp) c.4314G>C (p.Glu1438Asp) c.4209G>C (p.Glu1403Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26467192C>T | CA425359730 | OTOF | c.4269G>A (p.Glu1423=) c.1968G>A (p.Glu656=) c.2028G>A (p.Glu676=) c.2199G>A (p.Glu733=) c.4254G>A (p.Glu1418=) c.4314G>A (p.Glu1438=) c.4209G>A (p.Glu1403=) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26467193T>A | CA346137002 | OTOF | c.4268A>T (p.Glu1423Val) c.1967A>T (p.Glu656Val) c.2027A>T (p.Glu676Val) c.2198A>T (p.Glu733Val) c.4253A>T (p.Glu1418Val) c.4313A>T (p.Glu1438Val) c.4208A>T (p.Glu1403Val) | |
| 2 | g.26467193T>C | CA346137003 | OTOF | c.4268A>G (p.Glu1423Gly) c.1967A>G (p.Glu656Gly) c.2027A>G (p.Glu676Gly) c.2198A>G (p.Glu733Gly) c.4253A>G (p.Glu1418Gly) c.4313A>G (p.Glu1438Gly) c.4208A>G (p.Glu1403Gly) | |
| 2 | g.26467193T>G | CA346137004 | OTOF | c.4268A>C (p.Glu1423Ala) c.1967A>C (p.Glu656Ala) c.2027A>C (p.Glu676Ala) c.2198A>C (p.Glu733Ala) c.4253A>C (p.Glu1418Ala) c.4313A>C (p.Glu1438Ala) c.4208A>C (p.Glu1403Ala) | |
| 2 | g.26467194C>A | CA346137005 | OTOF | c.4267G>T (p.Glu1423Ter) c.1966G>T (p.Glu656Ter) c.2026G>T (p.Glu676Ter) c.2197G>T (p.Glu733Ter) c.4252G>T (p.Glu1418Ter) c.4312G>T (p.Glu1438Ter) c.4207G>T (p.Glu1403Ter) | |
| 2 | g.26467194C>G | CA346137006 | OTOF | c.4267G>C (p.Glu1423Gln) c.1966G>C (p.Glu656Gln) c.2026G>C (p.Glu676Gln) c.2197G>C (p.Glu733Gln) c.4252G>C (p.Glu1418Gln) c.4312G>C (p.Glu1438Gln) c.4207G>C (p.Glu1403Gln) | |
| 2 | g.26467194C>T | CA346137007 | OTOF | c.4267G>A (p.Glu1423Lys) c.1966G>A (p.Glu656Lys) c.2026G>A (p.Glu676Lys) c.2197G>A (p.Glu733Lys) c.4252G>A (p.Glu1418Lys) c.4312G>A (p.Glu1438Lys) c.4207G>A (p.Glu1403Lys) | |
| 2 | g.26467195A>C | CA346137008 | OTOF | c.4266T>G (p.Phe1422Leu) c.1965T>G (p.Phe655Leu) c.2025T>G (p.Phe675Leu) c.2196T>G (p.Phe732Leu) c.4251T>G (p.Phe1417Leu) c.4311T>G (p.Phe1437Leu) c.4206T>G (p.Phe1402Leu) | |
| 2 | g.26467195A>G | CA425359735 | OTOF | c.4266T>C (p.Phe1422=) c.1965T>C (p.Phe655=) c.2025T>C (p.Phe675=) c.2196T>C (p.Phe732=) c.4251T>C (p.Phe1417=) c.4311T>C (p.Phe1437=) c.4206T>C (p.Phe1402=) | |
| 2 | g.26467195A>T | CA346137009 | OTOF | c.4266T>A (p.Phe1422Leu) c.1965T>A (p.Phe655Leu) c.2025T>A (p.Phe675Leu) c.2196T>A (p.Phe732Leu) c.4251T>A (p.Phe1417Leu) c.4311T>A (p.Phe1437Leu) c.4206T>A (p.Phe1402Leu) | |
| 2 | g.26467196_26467197del | CA2658234818 | OTOF | c.4265_4266del (p.Phe1422Ter) c.1964_1965del (p.Phe655Ter) c.2024_2025del (p.Phe675Ter) c.2195_2196del (p.Phe732Ter) c.4250_4251del (p.Phe1417Ter) c.4310_4311del (p.Phe1437Ter) c.4205_4206del (p.Phe1402Ter) | gnomAD v4 |
| 2 | g.26467196A>C | CA346137011 | OTOF | c.4265T>G (p.Phe1422Cys) c.1964T>G (p.Phe655Cys) c.2024T>G (p.Phe675Cys) c.2195T>G (p.Phe732Cys) c.4250T>G (p.Phe1417Cys) c.4310T>G (p.Phe1437Cys) c.4205T>G (p.Phe1402Cys) | |
| 2 | g.26467196A>G | CA346137012 | OTOF | c.4265T>C (p.Phe1422Ser) c.1964T>C (p.Phe655Ser) c.2024T>C (p.Phe675Ser) c.2195T>C (p.Phe732Ser) c.4250T>C (p.Phe1417Ser) c.4310T>C (p.Phe1437Ser) c.4205T>C (p.Phe1402Ser) | |
| 2 | g.26467196A>T | CA346137010 | OTOF | c.4265T>A (p.Phe1422Tyr) c.1964T>A (p.Phe655Tyr) c.2024T>A (p.Phe675Tyr) c.2195T>A (p.Phe732Tyr) c.4250T>A (p.Phe1417Tyr) c.4310T>A (p.Phe1437Tyr) c.4205T>A (p.Phe1402Tyr) | |
| 2 | g.26467196_26467199delinsAAGT | CA1239818001 | OTOF | c.4262_4265delinsACTT (p.Asn1421=) c.1961_1964delinsACTT (p.Asn654=) c.2021_2024delinsACTT (p.Asn674=) c.2192_2195delinsACTT (p.Asn731=) c.4247_4250delinsACTT (p.Asn1416=) c.4307_4310delinsACTT (p.Asn1436=) c.4202_4205delinsACTT (p.Asn1401=) | |
| 2 | g.26467197A>C | CA346137013 | OTOF | c.4264T>G (p.Phe1422Val) c.1963T>G (p.Phe655Val) c.2023T>G (p.Phe675Val) c.2194T>G (p.Phe732Val) c.4249T>G (p.Phe1417Val) c.4309T>G (p.Phe1437Val) c.4204T>G (p.Phe1402Val) | |
| 2 | g.26467197A>G | CA346137014 | OTOF | c.4264T>C (p.Phe1422Leu) c.1963T>C (p.Phe655Leu) c.2023T>C (p.Phe675Leu) c.2194T>C (p.Phe732Leu) c.4249T>C (p.Phe1417Leu) c.4309T>C (p.Phe1437Leu) c.4204T>C (p.Phe1402Leu) | |
| 2 | g.26467197A>T | CA346137015 | OTOF | c.4264T>A (p.Phe1422Ile) c.1963T>A (p.Phe655Ile) c.2023T>A (p.Phe675Ile) c.2194T>A (p.Phe732Ile) c.4249T>A (p.Phe1417Ile) c.4309T>A (p.Phe1437Ile) c.4204T>A (p.Phe1402Ile) | |
| 2 | g.26467197_26467199del | CA531761723 | OTOF | c.4262_4264del (p.Asn1421_Phe1422delinsIle) c.1961_1963del (p.Asn654_Phe655delinsIle) c.2021_2023del (p.Asn674_Phe675delinsIle) c.2192_2194del (p.Asn731_Phe732delinsIle) c.4247_4249del (p.Asn1416_Phe1417delinsIle) c.4307_4309del (p.Asn1436_Phe1437delinsIle) c.4202_4204del (p.Asn1401_Phe1402delinsIle) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26467198G>A | CA425359741 | OTOF | c.4263C>T (p.Asn1421=) c.1962C>T (p.Asn654=) c.2022C>T (p.Asn674=) c.2193C>T (p.Asn731=) c.4248C>T (p.Asn1416=) c.4308C>T (p.Asn1436=) c.4203C>T (p.Asn1401=) | |
| 2 | g.26467198G>C | CA346137016 | OTOF | c.4263C>G (p.Asn1421Lys) c.1962C>G (p.Asn654Lys) c.2022C>G (p.Asn674Lys) c.2193C>G (p.Asn731Lys) c.4248C>G (p.Asn1416Lys) c.4308C>G (p.Asn1436Lys) c.4203C>G (p.Asn1401Lys) | |
| 2 | g.26467198G>T | CA346137017 | OTOF | c.4263C>A (p.Asn1421Lys) c.1962C>A (p.Asn654Lys) c.2022C>A (p.Asn674Lys) c.2193C>A (p.Asn731Lys) c.4248C>A (p.Asn1416Lys) c.4308C>A (p.Asn1436Lys) c.4203C>A (p.Asn1401Lys) | |
| 2 | g.26467199T>A | CA346137018 | OTOF | c.4262A>T (p.Asn1421Ile) c.1961A>T (p.Asn654Ile) c.2021A>T (p.Asn674Ile) c.2192A>T (p.Asn731Ile) c.4247A>T (p.Asn1416Ile) c.4307A>T (p.Asn1436Ile) c.4202A>T (p.Asn1401Ile) | |
| 2 | g.26467199T>C | CA346137019 | OTOF | c.4262A>G (p.Asn1421Ser) c.1961A>G (p.Asn654Ser) c.2021A>G (p.Asn674Ser) c.2192A>G (p.Asn731Ser) c.4247A>G (p.Asn1416Ser) c.4307A>G (p.Asn1436Ser) c.4202A>G (p.Asn1401Ser) | |
| 2 | g.26467199T>G | CA346137020 | OTOF | c.4262A>C (p.Asn1421Thr) c.1961A>C (p.Asn654Thr) c.2021A>C (p.Asn674Thr) c.2192A>C (p.Asn731Thr) c.4247A>C (p.Asn1416Thr) c.4307A>C (p.Asn1436Thr) c.4202A>C (p.Asn1401Thr) | |
| 2 | g.26467200T>A | CA346137021 | OTOF | c.4261A>T (p.Asn1421Tyr) c.1960A>T (p.Asn654Tyr) c.2020A>T (p.Asn674Tyr) c.2191A>T (p.Asn731Tyr) c.4246A>T (p.Asn1416Tyr) c.4306A>T (p.Asn1436Tyr) c.4201A>T (p.Asn1401Tyr) | |
| 2 | g.26467200T>C | CA1563229 | OTOF | c.4261A>G (p.Asn1421Asp) c.1960A>G (p.Asn654Asp) c.2020A>G (p.Asn674Asp) c.2191A>G (p.Asn731Asp) c.4246A>G (p.Asn1416Asp) c.4306A>G (p.Asn1436Asp) c.4201A>G (p.Asn1401Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26467200T>G | CA346137022 | OTOF | c.4261A>C (p.Asn1421His) c.1960A>C (p.Asn654His) c.2020A>C (p.Asn674His) c.2191A>C (p.Asn731His) c.4246A>C (p.Asn1416His) c.4306A>C (p.Asn1436His) c.4201A>C (p.Asn1401His) | |
| 2 | g.26467200T= | CA1239818006 | OTOF | c.4261A= (p.Asn1421=) c.1960A= (p.Asn654=) c.2020A= (p.Asn674=) c.2191A= (p.Asn731=) c.4246A= (p.Asn1416=) c.4306A= (p.Asn1436=) c.4201A= (p.Asn1401=) | |
| 2 | g.26467201A= | CA1239818010 | OTOF | c.4260T= (p.Asp1420=) c.1959T= (p.Asp653=) c.2019T= (p.Asp673=) c.2190T= (p.Asp730=) c.4245T= (p.Asp1415=) c.4305T= (p.Asp1435=) c.4200T= (p.Asp1400=) | |
| 2 | g.26467201A>C | CA346137024 | OTOF | c.4260T>G (p.Asp1420Glu) c.1959T>G (p.Asp653Glu) c.2019T>G (p.Asp673Glu) c.2190T>G (p.Asp730Glu) c.4245T>G (p.Asp1415Glu) c.4305T>G (p.Asp1435Glu) c.4200T>G (p.Asp1400Glu) | |
| 2 | g.26467201A>G | CA425359746 | OTOF | c.4260T>C (p.Asp1420=) c.1959T>C (p.Asp653=) c.2019T>C (p.Asp673=) c.2190T>C (p.Asp730=) c.4245T>C (p.Asp1415=) c.4305T>C (p.Asp1435=) c.4200T>C (p.Asp1400=) | |
| 2 | g.26467201A>T | CA346137025 | OTOF | c.4260T>A (p.Asp1420Glu) c.1959T>A (p.Asp653Glu) c.2019T>A (p.Asp673Glu) c.2190T>A (p.Asp730Glu) c.4245T>A (p.Asp1415Glu) c.4305T>A (p.Asp1435Glu) c.4200T>A (p.Asp1400Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26467202T>A | CA346137026 | OTOF | c.4259A>T (p.Asp1420Val) c.1958A>T (p.Asp653Val) c.2018A>T (p.Asp673Val) c.2189A>T (p.Asp730Val) c.4244A>T (p.Asp1415Val) c.4304A>T (p.Asp1435Val) c.4199A>T (p.Asp1400Val) | |
| 2 | g.26467202T>C | CA346137029 | OTOF | c.4259A>G (p.Asp1420Gly) c.1958A>G (p.Asp653Gly) c.2018A>G (p.Asp673Gly) c.2189A>G (p.Asp730Gly) c.4244A>G (p.Asp1415Gly) c.4304A>G (p.Asp1435Gly) c.4199A>G (p.Asp1400Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26467202T>G | CA346137028 | OTOF | c.4259A>C (p.Asp1420Ala) c.1958A>C (p.Asp653Ala) c.2018A>C (p.Asp673Ala) c.2189A>C (p.Asp730Ala) c.4244A>C (p.Asp1415Ala) c.4304A>C (p.Asp1435Ala) c.4199A>C (p.Asp1400Ala) | |
| 2 | g.26467202T= | CA1239818014 | OTOF | c.4259A= (p.Asp1420=) c.1958A= (p.Asp653=) c.2018A= (p.Asp673=) c.2189A= (p.Asp730=) c.4244A= (p.Asp1415=) c.4304A= (p.Asp1435=) c.4199A= (p.Asp1400=) | |
| 2 | g.26467203C>A | CA346137031 | OTOF | c.4258G>T (p.Asp1420Tyr) c.1957G>T (p.Asp653Tyr) c.2017G>T (p.Asp673Tyr) c.2188G>T (p.Asp730Tyr) c.4243G>T (p.Asp1415Tyr) c.4303G>T (p.Asp1435Tyr) c.4198G>T (p.Asp1400Tyr) | |
| 2 | g.26467203C>G | CA346137032 | OTOF | c.4258G>C (p.Asp1420His) c.1957G>C (p.Asp653His) c.2017G>C (p.Asp673His) c.2188G>C (p.Asp730His) c.4243G>C (p.Asp1415His) c.4303G>C (p.Asp1435His) c.4198G>C (p.Asp1400His) | |
| 2 | g.26467203C>T | CA346137033 | OTOF | c.4258G>A (p.Asp1420Asn) c.1957G>A (p.Asp653Asn) c.2017G>A (p.Asp673Asn) c.2188G>A (p.Asp730Asn) c.4243G>A (p.Asp1415Asn) c.4303G>A (p.Asp1435Asn) c.4198G>A (p.Asp1400Asn) | |
| 2 | g.26467204A>C | CA346137035 | OTOF | c.4257T>G (p.Phe1419Leu) c.1956T>G (p.Phe652Leu) c.2016T>G (p.Phe672Leu) c.2187T>G (p.Phe729Leu) c.4242T>G (p.Phe1414Leu) c.4302T>G (p.Phe1434Leu) c.4197T>G (p.Phe1399Leu) | |
| 2 | g.26467204A>G | CA425207335 | OTOF | c.4257T>C (p.Phe1419=) c.1956T>C (p.Phe652=) c.2016T>C (p.Phe672=) c.2187T>C (p.Phe729=) c.4242T>C (p.Phe1414=) c.4302T>C (p.Phe1434=) c.4197T>C (p.Phe1399=) | |
| 2 | g.26467204A>T | CA346137037 | OTOF | c.4257T>A (p.Phe1419Leu) c.1956T>A (p.Phe652Leu) c.2016T>A (p.Phe672Leu) c.2187T>A (p.Phe729Leu) c.4242T>A (p.Phe1414Leu) c.4302T>A (p.Phe1434Leu) c.4197T>A (p.Phe1399Leu) | |
| 2 | g.26467205A= | CA1239818016 | OTOF | c.4256T= (p.Phe1419=) c.1955T= (p.Phe652=) c.2015T= (p.Phe672=) c.2186T= (p.Phe729=) c.4241T= (p.Phe1414=) c.4301T= (p.Phe1434=) c.4196T= (p.Phe1399=) | |
| 2 | g.26467205A>C | CA346137038 | OTOF | c.4256T>G (p.Phe1419Cys) c.1955T>G (p.Phe652Cys) c.2015T>G (p.Phe672Cys) c.2186T>G (p.Phe729Cys) c.4241T>G (p.Phe1414Cys) c.4301T>G (p.Phe1434Cys) c.4196T>G (p.Phe1399Cys) | |
| 2 | g.26467205A>G | CA346137040 | OTOF | c.4256T>C (p.Phe1419Ser) c.1955T>C (p.Phe652Ser) c.2015T>C (p.Phe672Ser) c.2186T>C (p.Phe729Ser) c.4241T>C (p.Phe1414Ser) c.4301T>C (p.Phe1434Ser) c.4196T>C (p.Phe1399Ser) | dbSNP gnomAD v4 |
| 2 | g.26467205A>T | CA346137041 | OTOF | c.4256T>A (p.Phe1419Tyr) c.1955T>A (p.Phe652Tyr) c.2015T>A (p.Phe672Tyr) c.2186T>A (p.Phe729Tyr) c.4241T>A (p.Phe1414Tyr) c.4301T>A (p.Phe1434Tyr) c.4196T>A (p.Phe1399Tyr) | |
| 2 | g.26467206A>C | CA346137043 | OTOF | c.4255T>G (p.Phe1419Val) c.1954T>G (p.Phe652Val) c.2014T>G (p.Phe672Val) c.2185T>G (p.Phe729Val) c.4240T>G (p.Phe1414Val) c.4300T>G (p.Phe1434Val) c.4195T>G (p.Phe1399Val) | |
| 2 | g.26467206A>G | CA346137045 | OTOF | c.4255T>C (p.Phe1419Leu) c.1954T>C (p.Phe652Leu) c.2014T>C (p.Phe672Leu) c.2185T>C (p.Phe729Leu) c.4240T>C (p.Phe1414Leu) c.4300T>C (p.Phe1434Leu) c.4195T>C (p.Phe1399Leu) | |
| 2 | g.26467206A>T | CA346137046 | OTOF | c.4255T>A (p.Phe1419Ile) c.1954T>A (p.Phe652Ile) c.2014T>A (p.Phe672Ile) c.2185T>A (p.Phe729Ile) c.4240T>A (p.Phe1414Ile) c.4300T>A (p.Phe1434Ile) c.4195T>A (p.Phe1399Ile) | COSMIC COSMIC COSMIC |
| 2 | g.26467207C>A | CA346137049 | OTOF | c.4254G>T (p.Glu1418Asp) c.1953G>T (p.Glu651Asp) c.2013G>T (p.Glu671Asp) c.2184G>T (p.Glu728Asp) c.4239G>T (p.Glu1413Asp) c.4299G>T (p.Glu1433Asp) c.4194G>T (p.Glu1398Asp) | |
| 2 | g.26467207C>G | CA346137048 | OTOF | c.4254G>C (p.Glu1418Asp) c.1953G>C (p.Glu651Asp) c.2013G>C (p.Glu671Asp) c.2184G>C (p.Glu728Asp) c.4239G>C (p.Glu1413Asp) c.4299G>C (p.Glu1433Asp) c.4194G>C (p.Glu1398Asp) | COSMIC COSMIC |
| 2 | g.26467207C>T | CA425207337 | OTOF | c.4254G>A (p.Glu1418=) c.1953G>A (p.Glu651=) c.2013G>A (p.Glu671=) c.2184G>A (p.Glu728=) c.4239G>A (p.Glu1413=) c.4299G>A (p.Glu1433=) c.4194G>A (p.Glu1398=) | |
| 2 | g.26467208T>A | CA346137050 | OTOF | c.4253A>T (p.Glu1418Val) c.1952A>T (p.Glu651Val) c.2012A>T (p.Glu671Val) c.2183A>T (p.Glu728Val) c.4238A>T (p.Glu1413Val) c.4298A>T (p.Glu1433Val) c.4193A>T (p.Glu1398Val) | |
| 2 | g.26467208T>C | CA346137052 | OTOF | c.4253A>G (p.Glu1418Gly) c.1952A>G (p.Glu651Gly) c.2012A>G (p.Glu671Gly) c.2183A>G (p.Glu728Gly) c.4238A>G (p.Glu1413Gly) c.4298A>G (p.Glu1433Gly) c.4193A>G (p.Glu1398Gly) | |
| 2 | g.26467208T>G | CA346137051 | OTOF | c.4253A>C (p.Glu1418Ala) c.1952A>C (p.Glu651Ala) c.2012A>C (p.Glu671Ala) c.2183A>C (p.Glu728Ala) c.4238A>C (p.Glu1413Ala) c.4298A>C (p.Glu1433Ala) c.4193A>C (p.Glu1398Ala) | |
| 2 | g.26467209C>A | CA346137054 | OTOF | c.4252G>T (p.Glu1418Ter) c.1951G>T (p.Glu651Ter) c.2011G>T (p.Glu671Ter) c.2182G>T (p.Glu728Ter) c.4237G>T (p.Glu1413Ter) c.4297G>T (p.Glu1433Ter) c.4192G>T (p.Glu1398Ter) | |
| 2 | g.26467209C= | CA1239818017 | OTOF | c.4252G= (p.Glu1418=) c.1951G= (p.Glu651=) c.2011G= (p.Glu671=) c.2182G= (p.Glu728=) c.4237G= (p.Glu1413=) c.4297G= (p.Glu1433=) c.4192G= (p.Glu1398=) | |
| 2 | g.26467209C>G | CA346137055 | OTOF | c.4252G>C (p.Glu1418Gln) c.1951G>C (p.Glu651Gln) c.2011G>C (p.Glu671Gln) c.2182G>C (p.Glu728Gln) c.4237G>C (p.Glu1413Gln) c.4297G>C (p.Glu1433Gln) c.4192G>C (p.Glu1398Gln) | |
| 2 | g.26467209C>T | CA1563230 | OTOF | c.4252G>A (p.Glu1418Lys) c.1951G>A (p.Glu651Lys) c.2011G>A (p.Glu671Lys) c.2182G>A (p.Glu728Lys) c.4237G>A (p.Glu1413Lys) c.4297G>A (p.Glu1433Lys) c.4192G>A (p.Glu1398Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26467210G>A | CA1563231 | OTOF | c.4251C>T (p.Ser1417=) c.1950C>T (p.Ser650=) c.2010C>T (p.Ser670=) c.2181C>T (p.Ser727=) c.4236C>T (p.Ser1412=) c.4296C>T (p.Ser1432=) c.4191C>T (p.Ser1397=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26467210G>C | CA425207341 | OTOF | c.4251C>G (p.Ser1417=) c.1950C>G (p.Ser650=) c.2010C>G (p.Ser670=) c.2181C>G (p.Ser727=) c.4236C>G (p.Ser1412=) c.4296C>G (p.Ser1432=) c.4191C>G (p.Ser1397=) | |
| 2 | g.26467210G= | CA1239818020 | OTOF | c.4251C= (p.Ser1417=) c.1950C= (p.Ser650=) c.2010C= (p.Ser670=) c.2181C= (p.Ser727=) c.4236C= (p.Ser1412=) c.4296C= (p.Ser1432=) c.4191C= (p.Ser1397=) | |
| 2 | g.26467210G>T | CA425207342 | OTOF | c.4251C>A (p.Ser1417=) c.1950C>A (p.Ser650=) c.2010C>A (p.Ser670=) c.2181C>A (p.Ser727=) c.4236C>A (p.Ser1412=) c.4296C>A (p.Ser1432=) c.4191C>A (p.Ser1397=) | |
| 2 | g.26467211G>A | CA346137057 | OTOF | c.4250C>T (p.Ser1417Phe) c.1949C>T (p.Ser650Phe) c.2009C>T (p.Ser670Phe) c.2180C>T (p.Ser727Phe) c.4235C>T (p.Ser1412Phe) c.4295C>T (p.Ser1432Phe) c.4190C>T (p.Ser1397Phe) | |
| 2 | g.26467211G>C | CA346137059 | OTOF | c.4250C>G (p.Ser1417Cys) c.1949C>G (p.Ser650Cys) c.2009C>G (p.Ser670Cys) c.2180C>G (p.Ser727Cys) c.4235C>G (p.Ser1412Cys) c.4295C>G (p.Ser1432Cys) c.4190C>G (p.Ser1397Cys) | |
| 2 | g.26467211G>T | CA346137061 | OTOF | c.4250C>A (p.Ser1417Tyr) c.1949C>A (p.Ser650Tyr) c.2009C>A (p.Ser670Tyr) c.2180C>A (p.Ser727Tyr) c.4235C>A (p.Ser1412Tyr) c.4295C>A (p.Ser1432Tyr) c.4190C>A (p.Ser1397Tyr) | |
| 2 | g.26467211_26467212insC | CA2586968800 | OTOF | c.4249_4250insG (p.Ser1417CysfsTer4) c.1948_1949insG (p.Ser650CysfsTer4) c.2008_2009insG (p.Ser670CysfsTer4) c.2179_2180insG (p.Ser727CysfsTer4) c.4234_4235insG (p.Ser1412CysfsTer4) c.4294_4295insG (p.Ser1432CysfsTer4) c.4189_4190insG (p.Ser1397CysfsTer4) | |
| 2 | g.26467212A= | CA1239818027 | OTOF | c.4249T= (p.Ser1417=) c.1948T= (p.Ser650=) c.2008T= (p.Ser670=) c.2179T= (p.Ser727=) c.4234T= (p.Ser1412=) c.4294T= (p.Ser1432=) c.4189T= (p.Ser1397=) | |
| 2 | g.26467212A>C | CA1563232 | OTOF | c.4249T>G (p.Ser1417Ala) c.1948T>G (p.Ser650Ala) c.2008T>G (p.Ser670Ala) c.2179T>G (p.Ser727Ala) c.4234T>G (p.Ser1412Ala) c.4294T>G (p.Ser1432Ala) c.4189T>G (p.Ser1397Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26467212A>G | CA346137063 | OTOF | c.4249T>C (p.Ser1417Pro) c.1948T>C (p.Ser650Pro) c.2008T>C (p.Ser670Pro) c.2179T>C (p.Ser727Pro) c.4234T>C (p.Ser1412Pro) c.4294T>C (p.Ser1432Pro) c.4189T>C (p.Ser1397Pro) | |
| 2 | g.26467212A>T | CA346137064 | OTOF | c.4249T>A (p.Ser1417Thr) c.1948T>A (p.Ser650Thr) c.2008T>A (p.Ser670Thr) c.2179T>A (p.Ser727Thr) c.4234T>A (p.Ser1412Thr) c.4294T>A (p.Ser1432Thr) c.4189T>A (p.Ser1397Thr) | |
| 2 | g.26467213C>A | CA346137065 | OTOF | c.4248G>T (p.Glu1416Asp) c.1947G>T (p.Glu649Asp) c.2007G>T (p.Glu669Asp) c.2178G>T (p.Glu726Asp) c.4233G>T (p.Glu1411Asp) c.4293G>T (p.Glu1431Asp) c.4188G>T (p.Glu1396Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26467213C= | CA1239818031 | OTOF | c.4248G= (p.Glu1416=) c.1947G= (p.Glu649=) c.2007G= (p.Glu669=) c.2178G= (p.Glu726=) c.4233G= (p.Glu1411=) c.4293G= (p.Glu1431=) c.4188G= (p.Glu1396=) | |
| 2 | g.26467213C>G | CA346137066 | OTOF | c.4248G>C (p.Glu1416Asp) c.1947G>C (p.Glu649Asp) c.2007G>C (p.Glu669Asp) c.2178G>C (p.Glu726Asp) c.4233G>C (p.Glu1411Asp) c.4293G>C (p.Glu1431Asp) c.4188G>C (p.Glu1396Asp) | |
| 2 | g.26467213C>T | CA425207343 | OTOF | c.4248G>A (p.Glu1416=) c.1947G>A (p.Glu649=) c.2007G>A (p.Glu669=) c.2178G>A (p.Glu726=) c.4233G>A (p.Glu1411=) c.4293G>A (p.Glu1431=) c.4188G>A (p.Glu1396=) | |
| 2 | g.26467214T>A | CA346137071 | OTOF | c.4247A>T (p.Glu1416Val) c.1946A>T (p.Glu649Val) c.2006A>T (p.Glu669Val) c.2177A>T (p.Glu726Val) c.4232A>T (p.Glu1411Val) c.4292A>T (p.Glu1431Val) c.4187A>T (p.Glu1396Val) | |
| 2 | g.26467214T>C | CA346137068 | OTOF | c.4247A>G (p.Glu1416Gly) c.1946A>G (p.Glu649Gly) c.2006A>G (p.Glu669Gly) c.2177A>G (p.Glu726Gly) c.4232A>G (p.Glu1411Gly) c.4292A>G (p.Glu1431Gly) c.4187A>G (p.Glu1396Gly) | |
| 2 | g.26467214T>G | CA346137069 | OTOF | c.4247A>C (p.Glu1416Ala) c.1946A>C (p.Glu649Ala) c.2006A>C (p.Glu669Ala) c.2177A>C (p.Glu726Ala) c.4232A>C (p.Glu1411Ala) c.4292A>C (p.Glu1431Ala) c.4187A>C (p.Glu1396Ala) | |
| 2 | g.26467215C>A | CA346137072 | OTOF | c.4246G>T (p.Glu1416Ter) c.1945G>T (p.Glu649Ter) c.2005G>T (p.Glu669Ter) c.2176G>T (p.Glu726Ter) c.4231G>T (p.Glu1411Ter) c.4291G>T (p.Glu1431Ter) c.4186G>T (p.Glu1396Ter) | |
| 2 | g.26467215C= | CA1239818033 | OTOF | c.4246G= (p.Glu1416=) c.1945G= (p.Glu649=) c.2005G= (p.Glu669=) c.2176G= (p.Glu726=) c.4231G= (p.Glu1411=) c.4291G= (p.Glu1431=) c.4186G= (p.Glu1396=) | |
| 2 | g.26467215C>G | CA346137073 | OTOF | c.4246G>C (p.Glu1416Gln) c.1945G>C (p.Glu649Gln) c.2005G>C (p.Glu669Gln) c.2176G>C (p.Glu726Gln) c.4231G>C (p.Glu1411Gln) c.4291G>C (p.Glu1431Gln) c.4186G>C (p.Glu1396Gln) | dbSNP |
| 2 | g.26467215C>T | CA346137074 | OTOF | c.4246G>A (p.Glu1416Lys) c.1945G>A (p.Glu649Lys) c.2005G>A (p.Glu669Lys) c.2176G>A (p.Glu726Lys) c.4231G>A (p.Glu1411Lys) c.4291G>A (p.Glu1431Lys) c.4186G>A (p.Glu1396Lys) | |
| 2 | g.26467216C>A | CA425207346 | OTOF | c.4245G>T (p.Leu1415=) c.1944G>T (p.Leu648=) c.2004G>T (p.Leu668=) c.2175G>T (p.Leu725=) c.4230G>T (p.Leu1410=) c.4290G>T (p.Leu1430=) c.4185G>T (p.Leu1395=) | |
| 2 | g.26467216C= | CA1239818037 | OTOF | c.4245G= (p.Leu1415=) c.1944G= (p.Leu648=) c.2004G= (p.Leu668=) c.2175G= (p.Leu725=) c.4230G= (p.Leu1410=) c.4290G= (p.Leu1430=) c.4185G= (p.Leu1395=) | |
| 2 | g.26467216C>G | CA425207347 | OTOF | c.4245G>C (p.Leu1415=) c.1944G>C (p.Leu648=) c.2004G>C (p.Leu668=) c.2175G>C (p.Leu725=) c.4230G>C (p.Leu1410=) c.4290G>C (p.Leu1430=) c.4185G>C (p.Leu1395=) | |
| 2 | g.26467216C>T | CA425207348 | OTOF | c.4245G>A (p.Leu1415=) c.1944G>A (p.Leu648=) c.2004G>A (p.Leu668=) c.2175G>A (p.Leu725=) c.4230G>A (p.Leu1410=) c.4290G>A (p.Leu1430=) c.4185G>A (p.Leu1395=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26467217A>C | CA346137075 | OTOF | c.4244T>G (p.Leu1415Arg) c.1943T>G (p.Leu648Arg) c.2003T>G (p.Leu668Arg) c.2174T>G (p.Leu725Arg) c.4229T>G (p.Leu1410Arg) c.4289T>G (p.Leu1430Arg) c.4184T>G (p.Leu1395Arg) | |
| 2 | g.26467217A>G | CA346137076 | OTOF | c.4244T>C (p.Leu1415Pro) c.1943T>C (p.Leu648Pro) c.2003T>C (p.Leu668Pro) c.2174T>C (p.Leu725Pro) c.4229T>C (p.Leu1410Pro) c.4289T>C (p.Leu1430Pro) c.4184T>C (p.Leu1395Pro) | gnomAD v4 |
| 2 | g.26467217A>T | CA346137078 | OTOF | c.4244T>A (p.Leu1415Gln) c.1943T>A (p.Leu648Gln) c.2003T>A (p.Leu668Gln) c.2174T>A (p.Leu725Gln) c.4229T>A (p.Leu1410Gln) c.4289T>A (p.Leu1430Gln) c.4184T>A (p.Leu1395Gln) | |
| 2 | g.26467218G>A | CA1563233 | OTOF | c.4243C>T (p.Leu1415=) c.1942C>T (p.Leu648=) c.2002C>T (p.Leu668=) c.2173C>T (p.Leu725=) c.4228C>T (p.Leu1410=) c.4288C>T (p.Leu1430=) c.4183C>T (p.Leu1395=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26467218G>C | CA346137080 | OTOF | c.4243C>G (p.Leu1415Val) c.1942C>G (p.Leu648Val) c.2002C>G (p.Leu668Val) c.2173C>G (p.Leu725Val) c.4228C>G (p.Leu1410Val) c.4288C>G (p.Leu1430Val) c.4183C>G (p.Leu1395Val) | |
| 2 | g.26467218G= | CA1239818039 | OTOF | c.4243C= (p.Leu1415=) c.1942C= (p.Leu648=) c.2002C= (p.Leu668=) c.2173C= (p.Leu725=) c.4228C= (p.Leu1410=) c.4288C= (p.Leu1430=) c.4183C= (p.Leu1395=) | |
| 2 | g.26467218G>T | CA346137081 | OTOF | c.4243C>A (p.Leu1415Met) c.1942C>A (p.Leu648Met) c.2002C>A (p.Leu668Met) c.2173C>A (p.Leu725Met) c.4228C>A (p.Leu1410Met) c.4288C>A (p.Leu1430Met) c.4183C>A (p.Leu1395Met) | |
| 2 | g.26467219C>A | CA346137083 | OTOF | c.4242G>T (p.Glu1414Asp) c.1941G>T (p.Glu647Asp) c.2001G>T (p.Glu667Asp) c.2172G>T (p.Glu724Asp) c.4227G>T (p.Glu1409Asp) c.4287G>T (p.Glu1429Asp) c.4182G>T (p.Glu1394Asp) | |
| 2 | g.26467219C>G | CA346137084 | OTOF | c.4242G>C (p.Glu1414Asp) c.1941G>C (p.Glu647Asp) c.2001G>C (p.Glu667Asp) c.2172G>C (p.Glu724Asp) c.4227G>C (p.Glu1409Asp) c.4287G>C (p.Glu1429Asp) c.4182G>C (p.Glu1394Asp) | |
| 2 | g.26467219C>T | CA425207351 | OTOF | c.4242G>A (p.Glu1414=) c.1941G>A (p.Glu647=) c.2001G>A (p.Glu667=) c.2172G>A (p.Glu724=) c.4227G>A (p.Glu1409=) c.4287G>A (p.Glu1429=) c.4182G>A (p.Glu1394=) | |
| 2 | g.26467220T>A | CA346137088 | OTOF | c.4241A>T (p.Glu1414Val) c.1940A>T (p.Glu647Val) c.2000A>T (p.Glu667Val) c.2171A>T (p.Glu724Val) c.4226A>T (p.Glu1409Val) c.4286A>T (p.Glu1429Val) c.4181A>T (p.Glu1394Val) | |
| 2 | g.26467220T>C | CA346137089 | OTOF | c.4241A>G (p.Glu1414Gly) c.1940A>G (p.Glu647Gly) c.2000A>G (p.Glu667Gly) c.2171A>G (p.Glu724Gly) c.4226A>G (p.Glu1409Gly) c.4286A>G (p.Glu1429Gly) c.4181A>G (p.Glu1394Gly) | |
| 2 | g.26467220T>G | CA346137086 | OTOF | c.4241A>C (p.Glu1414Ala) c.1940A>C (p.Glu647Ala) c.2000A>C (p.Glu667Ala) c.2171A>C (p.Glu724Ala) c.4226A>C (p.Glu1409Ala) c.4286A>C (p.Glu1429Ala) c.4181A>C (p.Glu1394Ala) | |
| 2 | g.26467221C>A | CA346137091 | OTOF | c.4240G>T (p.Glu1414Ter) c.1939G>T (p.Glu647Ter) c.1999G>T (p.Glu667Ter) c.2170G>T (p.Glu724Ter) c.4225G>T (p.Glu1409Ter) c.4285G>T (p.Glu1429Ter) c.4180G>T (p.Glu1394Ter) | |
| 2 | g.26467221C>G | CA346137092 | OTOF | c.4240G>C (p.Glu1414Gln) c.1939G>C (p.Glu647Gln) c.1999G>C (p.Glu667Gln) c.2170G>C (p.Glu724Gln) c.4225G>C (p.Glu1409Gln) c.4285G>C (p.Glu1429Gln) c.4180G>C (p.Glu1394Gln) | |
| 2 | g.26467221C>T | CA346137093 | OTOF | c.4240G>A (p.Glu1414Lys) c.1939G>A (p.Glu647Lys) c.1999G>A (p.Glu667Lys) c.2170G>A (p.Glu724Lys) c.4225G>A (p.Glu1409Lys) c.4285G>A (p.Glu1429Lys) c.4180G>A (p.Glu1394Lys) | |
| 2 | g.26467222T>A | CA346137095 | OTOF | c.4239A>T (p.Lys1413Asn) c.1938A>T (p.Lys646Asn) c.1998A>T (p.Lys666Asn) c.2169A>T (p.Lys723Asn) c.4224A>T (p.Lys1408Asn) c.4284A>T (p.Lys1428Asn) c.4179A>T (p.Lys1393Asn) | |
| 2 | g.26467222T>C | CA10613404 | OTOF | c.4239A>G (p.Lys1413=) c.1938A>G (p.Lys646=) c.1998A>G (p.Lys666=) c.2169A>G (p.Lys723=) c.4224A>G (p.Lys1408=) c.4284A>G (p.Lys1428=) c.4179A>G (p.Lys1393=) | ClinVar dbSNP |
| 2 | g.26467222T>G | CA346137097 | OTOF | c.4239A>C (p.Lys1413Asn) c.1938A>C (p.Lys646Asn) c.1998A>C (p.Lys666Asn) c.2169A>C (p.Lys723Asn) c.4224A>C (p.Lys1408Asn) c.4284A>C (p.Lys1428Asn) c.4179A>C (p.Lys1393Asn) | |
| 2 | g.26467222T= | CA1239818045 | OTOF | c.4239A= (p.Lys1413=) c.1938A= (p.Lys646=) c.1998A= (p.Lys666=) c.2169A= (p.Lys723=) c.4224A= (p.Lys1408=) c.4284A= (p.Lys1428=) c.4179A= (p.Lys1393=) | |
| 2 | g.26467223T>A | CA346137098 | OTOF | c.4238A>T (p.Lys1413Ile) c.1937A>T (p.Lys646Ile) c.1997A>T (p.Lys666Ile) c.2168A>T (p.Lys723Ile) c.4223A>T (p.Lys1408Ile) c.4283A>T (p.Lys1428Ile) c.4178A>T (p.Lys1393Ile) | |
| 2 | g.26467223T>C | CA346137100 | OTOF | c.4238A>G (p.Lys1413Arg) c.1937A>G (p.Lys646Arg) c.1997A>G (p.Lys666Arg) c.2168A>G (p.Lys723Arg) c.4223A>G (p.Lys1408Arg) c.4283A>G (p.Lys1428Arg) c.4178A>G (p.Lys1393Arg) | |
| 2 | g.26467223T>G | CA346137102 | OTOF | c.4238A>C (p.Lys1413Thr) c.1937A>C (p.Lys646Thr) c.1997A>C (p.Lys666Thr) c.2168A>C (p.Lys723Thr) c.4223A>C (p.Lys1408Thr) c.4283A>C (p.Lys1428Thr) c.4178A>C (p.Lys1393Thr) | |
| 2 | g.26467224T>A | CA346137103 | OTOF | c.4237A>T (p.Lys1413Ter) c.1936A>T (p.Lys646Ter) c.1996A>T (p.Lys666Ter) c.2167A>T (p.Lys723Ter) c.4222A>T (p.Lys1408Ter) c.4282A>T (p.Lys1428Ter) c.4177A>T (p.Lys1393Ter) | |
| 2 | g.26467224T>C | CA346137105 | OTOF | c.4237A>G (p.Lys1413Glu) c.1936A>G (p.Lys646Glu) c.1996A>G (p.Lys666Glu) c.2167A>G (p.Lys723Glu) c.4222A>G (p.Lys1408Glu) c.4282A>G (p.Lys1428Glu) c.4177A>G (p.Lys1393Glu) | |
| 2 | g.26467224T>G | CA346137106 | OTOF | c.4237A>C (p.Lys1413Gln) c.1936A>C (p.Lys646Gln) c.1996A>C (p.Lys666Gln) c.2167A>C (p.Lys723Gln) c.4222A>C (p.Lys1408Gln) c.4282A>C (p.Lys1428Gln) c.4177A>C (p.Lys1393Gln) | |
| 2 | g.26467225G>A | CA425207353 | OTOF | c.4236C>T (p.Pro1412=) c.1935C>T (p.Pro645=) c.1995C>T (p.Pro665=) c.2166C>T (p.Pro722=) c.4221C>T (p.Pro1407=) c.4281C>T (p.Pro1427=) c.4176C>T (p.Pro1392=) | gnomAD v4 |
| 2 | g.26467225G>C | CA425207354 | OTOF | c.4236C>G (p.Pro1412=) c.1935C>G (p.Pro645=) c.1995C>G (p.Pro665=) c.2166C>G (p.Pro722=) c.4221C>G (p.Pro1407=) c.4281C>G (p.Pro1427=) c.4176C>G (p.Pro1392=) | |
| 2 | g.26467225G>T | CA425207355 | OTOF | c.4236C>A (p.Pro1412=) c.1935C>A (p.Pro645=) c.1995C>A (p.Pro665=) c.2166C>A (p.Pro722=) c.4221C>A (p.Pro1407=) c.4281C>A (p.Pro1427=) c.4176C>A (p.Pro1392=) | |
| 2 | g.26467226G>A | CA346137108 | OTOF | c.4235C>T (p.Pro1412Leu) c.1934C>T (p.Pro645Leu) c.1994C>T (p.Pro665Leu) c.2165C>T (p.Pro722Leu) c.4220C>T (p.Pro1407Leu) c.4280C>T (p.Pro1427Leu) c.4175C>T (p.Pro1392Leu) | dbSNP |
| 2 | g.26467226G>C | CA346137109 | OTOF | c.4235C>G (p.Pro1412Arg) c.1934C>G (p.Pro645Arg) c.1994C>G (p.Pro665Arg) c.2165C>G (p.Pro722Arg) c.4220C>G (p.Pro1407Arg) c.4280C>G (p.Pro1427Arg) c.4175C>G (p.Pro1392Arg) | |
| 2 | g.26467226G= | CA1239818213 | OTOF | c.4235C= (p.Pro1412=) c.1934C= (p.Pro645=) c.1994C= (p.Pro665=) c.2165C= (p.Pro722=) c.4220C= (p.Pro1407=) c.4280C= (p.Pro1427=) c.4175C= (p.Pro1392=) | |
| 2 | g.26467226G>T | CA346137107 | OTOF | c.4235C>A (p.Pro1412His) c.1934C>A (p.Pro645His) c.1994C>A (p.Pro665His) c.2165C>A (p.Pro722His) c.4220C>A (p.Pro1407His) c.4280C>A (p.Pro1427His) c.4175C>A (p.Pro1392His) | |
| 2 | g.26467227G>A | CA346137110 | OTOF | c.4234C>T (p.Pro1412Ser) c.1933C>T (p.Pro645Ser) c.1993C>T (p.Pro665Ser) c.2164C>T (p.Pro722Ser) c.4219C>T (p.Pro1407Ser) c.4279C>T (p.Pro1427Ser) c.4174C>T (p.Pro1392Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26467227G>C | CA346137112 | OTOF | c.4234C>G (p.Pro1412Ala) c.1933C>G (p.Pro645Ala) c.1993C>G (p.Pro665Ala) c.2164C>G (p.Pro722Ala) c.4219C>G (p.Pro1407Ala) c.4279C>G (p.Pro1427Ala) c.4174C>G (p.Pro1392Ala) | |
| 2 | g.26467227G= | CA1239818218 | OTOF | c.4234C= (p.Pro1412=) c.1933C= (p.Pro645=) c.1993C= (p.Pro665=) c.2164C= (p.Pro722=) c.4219C= (p.Pro1407=) c.4279C= (p.Pro1427=) c.4174C= (p.Pro1392=) | |
| 2 | g.26467227G>T | CA346137113 | OTOF | c.4234C>A (p.Pro1412Thr) c.1933C>A (p.Pro645Thr) c.1993C>A (p.Pro665Thr) c.2164C>A (p.Pro722Thr) c.4219C>A (p.Pro1407Thr) c.4279C>A (p.Pro1427Thr) c.4174C>A (p.Pro1392Thr) | |
| 2 | g.26467228G>A | CA425207357 | OTOF | c.4233C>T (p.Tyr1411=) c.1932C>T (p.Tyr644=) c.1992C>T (p.Tyr664=) c.2163C>T (p.Tyr721=) c.4218C>T (p.Tyr1406=) c.4278C>T (p.Tyr1426=) c.4173C>T (p.Tyr1391=) | |
| 2 | g.26467228G>C | CA346137115 | OTOF | c.4233C>G (p.Tyr1411Ter) c.1932C>G (p.Tyr644Ter) c.1992C>G (p.Tyr664Ter) c.2163C>G (p.Tyr721Ter) c.4218C>G (p.Tyr1406Ter) c.4278C>G (p.Tyr1426Ter) c.4173C>G (p.Tyr1391Ter) | |
| 2 | g.26467228G>T | CA346137116 | OTOF | c.4233C>A (p.Tyr1411Ter) c.1932C>A (p.Tyr644Ter) c.1992C>A (p.Tyr664Ter) c.2163C>A (p.Tyr721Ter) c.4218C>A (p.Tyr1406Ter) c.4278C>A (p.Tyr1426Ter) c.4173C>A (p.Tyr1391Ter) | |
| 2 | g.26467229T>A | CA346137119 | OTOF | c.4232A>T (p.Tyr1411Phe) c.1931A>T (p.Tyr644Phe) c.1991A>T (p.Tyr664Phe) c.2162A>T (p.Tyr721Phe) c.4217A>T (p.Tyr1406Phe) c.4277A>T (p.Tyr1426Phe) c.4172A>T (p.Tyr1391Phe) | |
| 2 | g.26467229T>C | CA346137118 | OTOF | c.4232A>G (p.Tyr1411Cys) c.1931A>G (p.Tyr644Cys) c.1991A>G (p.Tyr664Cys) c.2162A>G (p.Tyr721Cys) c.4217A>G (p.Tyr1406Cys) c.4277A>G (p.Tyr1426Cys) c.4172A>G (p.Tyr1391Cys) | gnomAD v4 |
| 2 | g.26467229T>G | CA346137117 | OTOF | c.4232A>C (p.Tyr1411Ser) c.1931A>C (p.Tyr644Ser) c.1991A>C (p.Tyr664Ser) c.2162A>C (p.Tyr721Ser) c.4217A>C (p.Tyr1406Ser) c.4277A>C (p.Tyr1426Ser) c.4172A>C (p.Tyr1391Ser) | |
| 2 | g.26467230A>C | CA346137121 | OTOF | c.4231T>G (p.Tyr1411Asp) c.1930T>G (p.Tyr644Asp) c.1990T>G (p.Tyr664Asp) c.2161T>G (p.Tyr721Asp) c.4216T>G (p.Tyr1406Asp) c.4276T>G (p.Tyr1426Asp) c.4171T>G (p.Tyr1391Asp) | |
| 2 | g.26467230A>G | CA346137122 | OTOF | c.4231T>C (p.Tyr1411His) c.1930T>C (p.Tyr644His) c.1990T>C (p.Tyr664His) c.2161T>C (p.Tyr721His) c.4216T>C (p.Tyr1406His) c.4276T>C (p.Tyr1426His) c.4171T>C (p.Tyr1391His) | |
| 2 | g.26467230A>T | CA346137123 | OTOF | c.4231T>A (p.Tyr1411Asn) c.1930T>A (p.Tyr644Asn) c.1990T>A (p.Tyr664Asn) c.2161T>A (p.Tyr721Asn) c.4216T>A (p.Tyr1406Asn) c.4276T>A (p.Tyr1426Asn) c.4171T>A (p.Tyr1391Asn) | |
| 2 | g.26467231T>A | CA425207358 | OTOF | c.4230A>T (p.Val1410=) c.1929A>T (p.Val643=) c.1989A>T (p.Val663=) c.2160A>T (p.Val720=) c.4215A>T (p.Val1405=) c.4275A>T (p.Val1425=) c.4170A>T (p.Val1390=) | |
| 2 | g.26467231T>C | CA425207359 | OTOF | c.4230A>G (p.Val1410=) c.1929A>G (p.Val643=) c.1989A>G (p.Val663=) c.2160A>G (p.Val720=) c.4215A>G (p.Val1405=) c.4275A>G (p.Val1425=) c.4170A>G (p.Val1390=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26467231T>G | CA425207360 | OTOF | c.4230A>C (p.Val1410=) c.1929A>C (p.Val643=) c.1989A>C (p.Val663=) c.2160A>C (p.Val720=) c.4215A>C (p.Val1405=) c.4275A>C (p.Val1425=) c.4170A>C (p.Val1390=) | |
| 2 | g.26467231T= | CA1239818220 | OTOF | c.4230A= (p.Val1410=) c.1929A= (p.Val643=) c.1989A= (p.Val663=) c.2160A= (p.Val720=) c.4215A= (p.Val1405=) c.4275A= (p.Val1425=) c.4170A= (p.Val1390=) | |
| 2 | g.26467232A= | CA1239818225 | OTOF | c.4229T= (p.Val1410=) c.1928T= (p.Val643=) c.1988T= (p.Val663=) c.2159T= (p.Val720=) c.4214T= (p.Val1405=) c.4274T= (p.Val1425=) c.4169T= (p.Val1390=) | |
| 2 | g.26467232A>C | CA346137125 | OTOF | c.4229T>G (p.Val1410Gly) c.1928T>G (p.Val643Gly) c.1988T>G (p.Val663Gly) c.2159T>G (p.Val720Gly) c.4214T>G (p.Val1405Gly) c.4274T>G (p.Val1425Gly) c.4169T>G (p.Val1390Gly) | |
| 2 | g.26467232A>G | CA1563234 | OTOF | c.4229T>C (p.Val1410Ala) c.1928T>C (p.Val643Ala) c.1988T>C (p.Val663Ala) c.2159T>C (p.Val720Ala) c.4214T>C (p.Val1405Ala) c.4274T>C (p.Val1425Ala) c.4169T>C (p.Val1390Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26467232A>T | CA346137127 | OTOF | c.4229T>A (p.Val1410Glu) c.1928T>A (p.Val643Glu) c.1988T>A (p.Val663Glu) c.2159T>A (p.Val720Glu) c.4214T>A (p.Val1405Glu) c.4274T>A (p.Val1425Glu) c.4169T>A (p.Val1390Glu) | |
| 2 | g.26467233C>A | CA346137129 | OTOF | c.4228G>T (p.Val1410Leu) c.1927G>T (p.Val643Leu) c.1987G>T (p.Val663Leu) c.2158G>T (p.Val720Leu) c.4213G>T (p.Val1405Leu) c.4273G>T (p.Val1425Leu) c.4168G>T (p.Val1390Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26467233C= | CA1239818230 | OTOF | c.4228G= (p.Val1410=) c.1927G= (p.Val643=) c.1987G= (p.Val663=) c.2158G= (p.Val720=) c.4213G= (p.Val1405=) c.4273G= (p.Val1425=) c.4168G= (p.Val1390=) | |
| 2 | g.26467233C>G | CA44413762 | OTOF | c.4228G>C (p.Val1410Leu) c.1927G>C (p.Val643Leu) c.1987G>C (p.Val663Leu) c.2158G>C (p.Val720Leu) c.4213G>C (p.Val1405Leu) c.4273G>C (p.Val1425Leu) c.4168G>C (p.Val1390Leu) | dbSNP gnomAD v4 |
| 2 | g.26467233C>T | CA346137128 | OTOF | c.4228G>A (p.Val1410Ile) c.1927G>A (p.Val643Ile) c.1987G>A (p.Val663Ile) c.2158G>A (p.Val720Ile) c.4213G>A (p.Val1405Ile) c.4273G>A (p.Val1425Ile) c.4168G>A (p.Val1390Ile) | gnomAD v4 |