UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.26482431_26482446del | CA2586968845 | OTOF | c.1539_1554del (p.His513GlnfsTer20) c.1584_1599del (p.His528GlnfsTer20) | ClinVar |
| 2 | g.26482441A= | CA1239828930 | OTOF | c.1544T= (p.Ile515=) c.1589T= (p.Ile530=) | |
| 2 | g.26482441A>C | CA346135170 | OTOF | c.1544T>G (p.Ile515Ser) c.1589T>G (p.Ile530Ser) | |
| 2 | g.26482441A>G | CA117973 | OTOF | c.1544T>C (p.Ile515Thr) c.1589T>C (p.Ile530Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26482441A>T | CA346135171 | OTOF | c.1544T>A (p.Ile515Asn) c.1589T>A (p.Ile530Asn) | |
| 2 | g.26482442T>A | CA346135172 | OTOF | c.1543A>T (p.Ile515Phe) c.1588A>T (p.Ile530Phe) | |
| 2 | g.26482442T>C | CA346135174 | OTOF | c.1543A>G (p.Ile515Val) c.1588A>G (p.Ile530Val) | |
| 2 | g.26482442T>G | CA346135173 | OTOF | c.1543A>C (p.Ile515Leu) c.1588A>C (p.Ile530Leu) | |
| 2 | g.26482443del | CA2658238773 | OTOF | c.1542del (p.Phe514LeufsTer24) c.1587del (p.Phe529LeufsTer24) | gnomAD v4 |
| 2 | g.26482443G>A | CA425206440 | OTOF | c.1542C>T (p.Phe514=) c.1587C>T (p.Phe529=) | COSMIC |
| 2 | g.26482443G>C | CA346135175 | OTOF | c.1542C>G (p.Phe514Leu) c.1587C>G (p.Phe529Leu) | |
| 2 | g.26482443G>T | CA346135176 | OTOF | c.1542C>A (p.Phe514Leu) c.1587C>A (p.Phe529Leu) | |
| 2 | g.26482444A>C | CA346135177 | OTOF | c.1541T>G (p.Phe514Cys) c.1586T>G (p.Phe529Cys) | |
| 2 | g.26482444A>G | CA346135178 | OTOF | c.1541T>C (p.Phe514Ser) c.1586T>C (p.Phe529Ser) | gnomAD v4 |
| 2 | g.26482444A>T | CA346135179 | OTOF | c.1541T>A (p.Phe514Tyr) c.1586T>A (p.Phe529Tyr) | |
| 2 | g.26482445A>C | CA346135180 | OTOF | c.1540T>G (p.Phe514Val) c.1585T>G (p.Phe529Val) | COSMIC |
| 2 | g.26482445A>G | CA346135181 | OTOF | c.1540T>C (p.Phe514Leu) c.1585T>C (p.Phe529Leu) | |
| 2 | g.26482445A>T | CA346135182 | OTOF | c.1540T>A (p.Phe514Ile) c.1585T>A (p.Phe529Ile) | |
| 2 | g.26482446G>A | CA425206446 | OTOF | c.1539C>T (p.His513=) c.1584C>T (p.His528=) | |
| 2 | g.26482446G>C | CA346135184 | OTOF | c.1539C>G (p.His513Gln) c.1584C>G (p.His528Gln) | |
| 2 | g.26482446G>T | CA346135183 | OTOF | c.1539C>A (p.His513Gln) c.1584C>A (p.His528Gln) | |
| 2 | g.26482447T>A | CA346135185 | OTOF | c.1538A>T (p.His513Leu) c.1583A>T (p.His528Leu) | |
| 2 | g.26482447T>C | CA346135186 | OTOF | c.1538A>G (p.His513Arg) c.1583A>G (p.His528Arg) | ClinVar gnomAD v4 |
| 2 | g.26482447T>G | CA346135187 | OTOF | c.1538A>C (p.His513Pro) c.1583A>C (p.His528Pro) | |
| 2 | g.26482448G>A | CA346135188 | OTOF | c.1537C>T (p.His513Tyr) c.1582C>T (p.His528Tyr) | |
| 2 | g.26482448G>C | CA346135189 | OTOF | c.1537C>G (p.His513Asp) c.1582C>G (p.His528Asp) | |
| 2 | g.26482448G= | CA1239828933 | OTOF | c.1537C= (p.His513=) c.1582C= (p.His528=) | |
| 2 | g.26482448G>T | CA1564250 | OTOF | c.1537C>A (p.His513Asn) c.1582C>A (p.His528Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26482449G>A | CA425206457 | OTOF | c.1536C>T (p.Thr512=) c.1581C>T (p.Thr527=) | ClinVar gnomAD v4 |
| 2 | g.26482449G>C | CA425206459 | OTOF | c.1536C>G (p.Thr512=) c.1581C>G (p.Thr527=) | |
| 2 | g.26482449G>T | CA425206460 | OTOF | c.1536C>A (p.Thr512=) c.1581C>A (p.Thr527=) | |
| 2 | g.26482450G>A | CA346135190 | OTOF | c.1535C>T (p.Thr512Ile) c.1580C>T (p.Thr527Ile) | ClinVar |
| 2 | g.26482450G>C | CA346135192 | OTOF | c.1535C>G (p.Thr512Ser) c.1580C>G (p.Thr527Ser) | |
| 2 | g.26482450G>T | CA346135191 | OTOF | c.1535C>A (p.Thr512Asn) c.1580C>A (p.Thr527Asn) | |
| 2 | g.26482451T>A | CA346135193 | OTOF | c.1534A>T (p.Thr512Ser) c.1579A>T (p.Thr527Ser) | |
| 2 | g.26482451T>C | CA346135194 | OTOF | c.1534A>G (p.Thr512Ala) c.1579A>G (p.Thr527Ala) | |
| 2 | g.26482451T>G | CA346135195 | OTOF | c.1534A>C (p.Thr512Pro) c.1579A>C (p.Thr527Pro) | |
| 2 | g.26482452G>A | CA425206465 | OTOF | c.1533C>T (p.Gly511=) c.1578C>T (p.Gly526=) | |
| 2 | g.26482452G>C | CA425206467 | OTOF | c.1533C>G (p.Gly511=) c.1578C>G (p.Gly526=) | dbSNP |
| 2 | g.26482452G= | CA1239828936 | OTOF | c.1533C= (p.Gly511=) c.1578C= (p.Gly526=) | |
| 2 | g.26482452G>T | CA425206468 | OTOF | c.1533C>A (p.Gly511=) c.1578C>A (p.Gly526=) | |
| 2 | g.26482453C>A | CA346135197 | OTOF | c.1532G>T (p.Gly511Val) c.1577G>T (p.Gly526Val) | |
| 2 | g.26482453C= | CA1239828939 | OTOF | c.1532G= (p.Gly511=) c.1577G= (p.Gly526=) | |
| 2 | g.26482453C>G | CA346135198 | OTOF | c.1532G>C (p.Gly511Ala) c.1577G>C (p.Gly526Ala) | |
| 2 | g.26482453C>T | CA346135199 | OTOF | c.1532G>A (p.Gly511Asp) c.1577G>A (p.Gly526Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.26482454C>A | CA346135200 | OTOF | c.1531G>T (p.Gly511Cys) c.1576G>T (p.Gly526Cys) | |
| 2 | g.26482454C= | CA1239828943 | OTOF | c.1531G= (p.Gly511=) c.1576G= (p.Gly526=) | |
| 2 | g.26482454C>G | CA346135202 | OTOF | c.1531G>C (p.Gly511Arg) c.1576G>C (p.Gly526Arg) | |
| 2 | g.26482454C>T | CA346135204 | OTOF | c.1531G>A (p.Gly511Ser) c.1576G>A (p.Gly526Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26482455G>A | CA142748 | OTOF | c.1530C>T (p.Ile510=) c.1575C>T (p.Ile525=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26482455G>C | CA346135207 | OTOF | c.1530C>G (p.Ile510Met) c.1575C>G (p.Ile525Met) | |
| 2 | g.26482455G= | CA1239828947 | OTOF | c.1530C= (p.Ile510=) c.1575C= (p.Ile525=) | |
| 2 | g.26482455G>T | CA425206478 | OTOF | c.1530C>A (p.Ile510=) c.1575C>A (p.Ile525=) | ClinVar dbSNP |
| 2 | g.26482456A>C | CA346135216 | OTOF | c.1529T>G (p.Ile510Ser) c.1574T>G (p.Ile525Ser) | |
| 2 | g.26482456A>G | CA346135213 | OTOF | c.1529T>C (p.Ile510Thr) c.1574T>C (p.Ile525Thr) | |
| 2 | g.26482456A>T | CA346135210 | OTOF | c.1529T>A (p.Ile510Asn) c.1574T>A (p.Ile525Asn) | |
| 2 | g.26482457T>A | CA346135224 | OTOF | c.1528A>T (p.Ile510Phe) c.1573A>T (p.Ile525Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26482457T>C | CA346135220 | OTOF | c.1528A>G (p.Ile510Val) c.1573A>G (p.Ile525Val) | gnomAD v4 |
| 2 | g.26482457T>G | CA346135222 | OTOF | c.1528A>C (p.Ile510Leu) c.1573A>C (p.Ile525Leu) | |
| 2 | g.26482457T= | CA1239828950 | OTOF | c.1528A= (p.Ile510=) c.1573A= (p.Ile525=) | |
| 2 | g.26482458G>A | CA425206483 | OTOF | c.1527C>T (p.Ala509=) c.1572C>T (p.Ala524=) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26482458G>C | CA425206484 | OTOF | c.1527C>G (p.Ala509=) c.1572C>G (p.Ala524=) | |
| 2 | g.26482458G= | CA1239828952 | OTOF | c.1527C= (p.Ala509=) c.1572C= (p.Ala524=) | |
| 2 | g.26482458G>T | CA425206486 | OTOF | c.1527C>A (p.Ala509=) c.1572C>A (p.Ala524=) | |
| 2 | g.26482459G>A | CA346135228 | OTOF | c.1526C>T (p.Ala509Val) c.1571C>T (p.Ala524Val) | gnomAD v4 COSMIC |
| 2 | g.26482459G>C | CA346135230 | OTOF | c.1526C>G (p.Ala509Gly) c.1571C>G (p.Ala524Gly) | |
| 2 | g.26482459G>T | CA346135233 | OTOF | c.1526C>A (p.Ala509Asp) c.1571C>A (p.Ala524Asp) | |
| 2 | g.26482460C>A | CA346135239 | OTOF | c.1525G>T (p.Ala509Ser) c.1570G>T (p.Ala524Ser) | |
| 2 | g.26482460C= | CA1239828955 | OTOF | c.1525G= (p.Ala509=) c.1570G= (p.Ala524=) | |
| 2 | g.26482460C>G | CA346135237 | OTOF | c.1525G>C (p.Ala509Pro) c.1570G>C (p.Ala524Pro) | |
| 2 | g.26482460C>T | CA1564251 | OTOF | c.1525G>A (p.Ala509Thr) c.1570G>A (p.Ala524Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26482461C>A | CA425206493 | OTOF | c.1524G>T (p.Val508=) c.1569G>T (p.Val523=) | |
| 2 | g.26482461C= | CA1239828958 | OTOF | c.1524G= (p.Val508=) c.1569G= (p.Val523=) | |
| 2 | g.26482461C>G | CA425206491 | OTOF | c.1524G>C (p.Val508=) c.1569G>C (p.Val523=) | |
| 2 | g.26482461C>T | CA44401561 | OTOF | c.1524G>A (p.Val508=) c.1569G>A (p.Val523=) | ClinVar dbSNP |
| 2 | g.26482462A>C | CA346135244 | OTOF | c.1523T>G (p.Val508Gly) c.1568T>G (p.Val523Gly) | gnomAD v4 |
| 2 | g.26482462A>G | CA346135247 | OTOF | c.1523T>C (p.Val508Ala) c.1568T>C (p.Val523Ala) | |
| 2 | g.26482462A>T | CA346135249 | OTOF | c.1523T>A (p.Val508Glu) c.1568T>A (p.Val523Glu) | |
| 2 | g.26482463C>A | CA346135252 | OTOF | c.1522G>T (p.Val508Leu) c.1567G>T (p.Val523Leu) | COSMIC |
| 2 | g.26482463C= | CA1239828962 | OTOF | c.1522G= (p.Val508=) c.1567G= (p.Val523=) | |
| 2 | g.26482463C>G | CA346135254 | OTOF | c.1522G>C (p.Val508Leu) c.1567G>C (p.Val523Leu) | |
| 2 | g.26482463C>T | CA1564252 | OTOF | c.1522G>A (p.Val508Met) c.1567G>A (p.Val523Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26482464G>A | CA1564253 | OTOF | c.1521C>T (p.Asp507=) c.1566C>T (p.Asp522=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26482464G>C | CA346135260 | OTOF | c.1521C>G (p.Asp507Glu) c.1566C>G (p.Asp522Glu) | gnomAD v4 |
| 2 | g.26482464G= | CA1239828965 | OTOF | c.1521C= (p.Asp507=) c.1566C= (p.Asp522=) | |
| 2 | g.26482464G>T | CA346135258 | OTOF | c.1521C>A (p.Asp507Glu) c.1566C>A (p.Asp522Glu) | |
| 2 | g.26482465T>A | CA346135263 | OTOF | c.1520A>T (p.Asp507Val) c.1565A>T (p.Asp522Val) | dbSNP |
| 2 | g.26482465T>C | CA346135265 | OTOF | c.1520A>G (p.Asp507Gly) c.1565A>G (p.Asp522Gly) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.26482465T>G | CA346135267 | OTOF | c.1520A>C (p.Asp507Ala) c.1565A>C (p.Asp522Ala) | |
| 2 | g.26482465T= | CA1239828968 | OTOF | c.1520A= (p.Asp507=) c.1565A= (p.Asp522=) | |
| 2 | g.26482466C>A | CA346135270 | OTOF | c.1519G>T (p.Asp507Tyr) c.1564G>T (p.Asp522Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26482466C= | CA1239828971 | OTOF | c.1519G= (p.Asp507=) c.1564G= (p.Asp522=) | |
| 2 | g.26482466C>G | CA346135272 | OTOF | c.1519G>C (p.Asp507His) c.1564G>C (p.Asp522His) | |
| 2 | g.26482466C>T | CA346135275 | OTOF | c.1519G>A (p.Asp507Asn) c.1564G>A (p.Asp522Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26482467G>A | CA1564254 | OTOF | c.1518C>T (p.Asn506=) c.1563C>T (p.Asn521=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26482467G>C | CA346135278 | OTOF | c.1518C>G (p.Asn506Lys) c.1563C>G (p.Asn521Lys) | |
| 2 | g.26482467G= | CA1239828973 | OTOF | c.1518C= (p.Asn506=) c.1563C= (p.Asn521=) | |
| 2 | g.26482467G>T | CA346135280 | OTOF | c.1518C>A (p.Asn506Lys) c.1563C>A (p.Asn521Lys) | |
| 2 | g.26482468T>A | CA346135281 | OTOF | c.1517A>T (p.Asn506Ile) c.1562A>T (p.Asn521Ile) | |
| 2 | g.26482468T>C | CA346135283 | OTOF | c.1517A>G (p.Asn506Ser) c.1562A>G (p.Asn521Ser) | gnomAD v4 COSMIC |
| 2 | g.26482468T>G | CA346135286 | OTOF | c.1517A>C (p.Asn506Thr) c.1562A>C (p.Asn521Thr) | |
| 2 | g.26482469T>A | CA346135291 | OTOF | c.1516A>T (p.Asn506Tyr) c.1561A>T (p.Asn521Tyr) | |
| 2 | g.26482469T>C | CA346135294 | OTOF | c.1516A>G (p.Asn506Asp) c.1561A>G (p.Asn521Asp) | |
| 2 | g.26482469T>G | CA346135289 | OTOF | c.1516A>C (p.Asn506His) c.1561A>C (p.Asn521His) | |
| 2 | g.26482470G>A | CA425206509 | OTOF | c.1515C>T (p.Val505=) c.1560C>T (p.Val520=) | ClinVar |
| 2 | g.26482470G>C | CA425206510 | OTOF | c.1515C>G (p.Val505=) c.1560C>G (p.Val520=) | |
| 2 | g.26482470G>T | CA425206511 | OTOF | c.1515C>A (p.Val505=) c.1560C>A (p.Val520=) | |
| 2 | g.26482471A= | CA1239828976 | OTOF | c.1514T= (p.Val505=) c.1559T= (p.Val520=) | |
| 2 | g.26482471A>C | CA346135296 | OTOF | c.1514T>G (p.Val505Gly) c.1559T>G (p.Val520Gly) | |
| 2 | g.26482471A>G | CA346135299 | OTOF | c.1514T>C (p.Val505Ala) c.1559T>C (p.Val520Ala) | |
| 2 | g.26482471A>T | CA346135298 | OTOF | c.1514T>A (p.Val505Asp) c.1559T>A (p.Val520Asp) | |
| 2 | g.26482472C>A | CA346135300 | OTOF | c.1513G>T (p.Val505Phe) c.1558G>T (p.Val520Phe) | |
| 2 | g.26482472C= | CA1239828978 | OTOF | c.1513G= (p.Val505=) c.1558G= (p.Val520=) | |
| 2 | g.26482472C>G | CA346135302 | OTOF | c.1513G>C (p.Val505Leu) c.1558G>C (p.Val520Leu) | |
| 2 | g.26482472C>T | CA346135303 | OTOF | c.1513G>A (p.Val505Ile) c.1558G>A (p.Val520Ile) | dbSNP gnomAD v4 |
| 2 | g.26482473dup | CA44401568 | OTOF | c.1513dup (p.Val505GlyfsTer12) c.1558dup (p.Val520GlyfsTer12) | dbSNP |
| 2 | g.26482473C>A | CA1564255 | OTOF | c.1512G>T (p.Lys504Asn) c.1557G>T (p.Lys519Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26482473C= | CA1239828984 | OTOF | c.1512G= (p.Lys504=) c.1557G= (p.Lys519=) | |
| 2 | g.26482473C>G | CA346135307 | OTOF | c.1512G>C (p.Lys504Asn) c.1557G>C (p.Lys519Asn) | |
| 2 | g.26482473C>T | CA425206518 | OTOF | c.1512G>A (p.Lys504=) c.1557G>A (p.Lys519=) | gnomAD v4 |
| 2 | g.26482474T>A | CA346135309 | OTOF | c.1511A>T (p.Lys504Met) c.1556A>T (p.Lys519Met) | |
| 2 | g.26482474T>C | CA346135311 | OTOF | c.1511A>G (p.Lys504Arg) c.1556A>G (p.Lys519Arg) | |
| 2 | g.26482474T>G | CA346135312 | OTOF | c.1511A>C (p.Lys504Thr) c.1556A>C (p.Lys519Thr) | |
| 2 | g.26482475T>A | CA346135315 | OTOF | c.1510A>T (p.Lys504Ter) c.1555A>T (p.Lys519Ter) | |
| 2 | g.26482475T>C | CA346135316 | OTOF | c.1510A>G (p.Lys504Glu) c.1555A>G (p.Lys519Glu) | |
| 2 | g.26482475T>G | CA346135317 | OTOF | c.1510A>C (p.Lys504Gln) c.1555A>C (p.Lys519Gln) | |
| 2 | g.26482476G>A | CA425206528 | OTOF | c.1509C>T (p.Asp503=) c.1554C>T (p.Asp518=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26482476G>C | CA346135320 | OTOF | c.1509C>G (p.Asp503Glu) c.1554C>G (p.Asp518Glu) | |
| 2 | g.26482476G= | CA1239828988 | OTOF | c.1509C= (p.Asp503=) c.1554C= (p.Asp518=) | |
| 2 | g.26482476G>T | CA1564256 | OTOF | c.1509C>A (p.Asp503Glu) c.1554C>A (p.Asp518Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26482477T>A | CA346135324 | OTOF | c.1508A>T (p.Asp503Val) c.1553A>T (p.Asp518Val) | |
| 2 | g.26482477T>C | CA346135328 | OTOF | c.1508A>G (p.Asp503Gly) c.1553A>G (p.Asp518Gly) | dbSNP |
| 2 | g.26482477T>G | CA346135325 | OTOF | c.1508A>C (p.Asp503Ala) c.1553A>C (p.Asp518Ala) | |
| 2 | g.26482478C>A | CA346135331 | OTOF | c.1507G>T (p.Asp503Tyr) c.1552G>T (p.Asp518Tyr) | |
| 2 | g.26482478C>G | CA346135333 | OTOF | c.1507G>C (p.Asp503His) c.1552G>C (p.Asp518His) | |
| 2 | g.26482478C>T | CA346135336 | OTOF | c.1507G>A (p.Asp503Asn) c.1552G>A (p.Asp518Asn) | |
| 2 | g.26482479del | CA2658238774 | OTOF | c.1507del (p.Asp503ThrfsTer?) c.1552del (p.Asp518ThrfsTer?) | gnomAD v4 |
| 2 | g.26482479C>A | CA425206536 | OTOF | c.1506G>T (p.Ser502=) c.1551G>T (p.Ser517=) | |
| 2 | g.26482479C= | CA1239828994 | OTOF | c.1506G= (p.Ser502=) c.1551G= (p.Ser517=) | |
| 2 | g.26482479C>G | CA425206537 | OTOF | c.1506G>C (p.Ser502=) c.1551G>C (p.Ser517=) | gnomAD v4 |
| 2 | g.26482479C>T | CA142746 | OTOF | c.1506G>A (p.Ser502=) c.1551G>A (p.Ser517=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26482480G>A | CA44401577 | OTOF | c.1505C>T (p.Ser502Leu) c.1550C>T (p.Ser517Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.26482480G>C | CA346135344 | OTOF | c.1505C>G (p.Ser502Trp) c.1550C>G (p.Ser517Trp) | |
| 2 | g.26482480G= | CA1239829000 | OTOF | c.1505C= (p.Ser502=) c.1550C= (p.Ser517=) | |
| 2 | g.26482480G>T | CA346135347 | OTOF | c.1505C>A (p.Ser502Ter) c.1550C>A (p.Ser517Ter) | |
| 2 | g.26482481A>C | CA346135351 | OTOF | c.1504T>G (p.Ser502Ala) c.1549T>G (p.Ser517Ala) | |
| 2 | g.26482481A>G | CA346135352 | OTOF | c.1504T>C (p.Ser502Pro) c.1549T>C (p.Ser517Pro) | |
| 2 | g.26482481A>T | CA346135354 | OTOF | c.1504T>A (p.Ser502Thr) c.1549T>A (p.Ser517Thr) | |
| 2 | g.26482482G>A | CA44401580 | OTOF | c.1503C>T (p.Asp501=) c.1548C>T (p.Asp516=) | dbSNP gnomAD v4 |
| 2 | g.26482482G>C | CA346135359 | OTOF | c.1503C>G (p.Asp501Glu) c.1548C>G (p.Asp516Glu) | gnomAD v4 |
| 2 | g.26482482G= | CA1239829002 | OTOF | c.1503C= (p.Asp501=) c.1548C= (p.Asp516=) | |
| 2 | g.26482482G>T | CA346135356 | OTOF | c.1503C>A (p.Asp501Glu) c.1548C>A (p.Asp516Glu) | |
| 2 | g.26482483T>A | CA346135363 | OTOF | c.1502A>T (p.Asp501Val) c.1547A>T (p.Asp516Val) | dbSNP |
| 2 | g.26482483T>C | CA346135366 | OTOF | c.1502A>G (p.Asp501Gly) c.1547A>G (p.Asp516Gly) | |
| 2 | g.26482483T>G | CA346135368 | OTOF | c.1502A>C (p.Asp501Ala) c.1547A>C (p.Asp516Ala) | |
| 2 | g.26482483T= | CA1239829008 | OTOF | c.1502A= (p.Asp501=) c.1547A= (p.Asp516=) | |
| 2 | g.26482484C>A | CA346135372 | OTOF | c.1501G>T (p.Asp501Tyr) c.1546G>T (p.Asp516Tyr) | |
| 2 | g.26482484C>G | CA346135374 | OTOF | c.1501G>C (p.Asp501His) c.1546G>C (p.Asp516His) | |
| 2 | g.26482484C>T | CA346135376 | OTOF | c.1501G>A (p.Asp501Asn) c.1546G>A (p.Asp516Asn) | |
| 2 | g.26482485T>A | CA425206556 | OTOF | c.1500A>T (p.Arg500=) c.1545A>T (p.Arg515=) | |
| 2 | g.26482485T>C | CA425206555 | OTOF | c.1500A>G (p.Arg500=) c.1545A>G (p.Arg515=) | |
| 2 | g.26482485T>G | CA425206554 | OTOF | c.1500A>C (p.Arg500=) c.1545A>C (p.Arg515=) | |
| 2 | g.26482486C>A | CA346135381 | OTOF | c.1499G>T (p.Arg500Leu) c.1544G>T (p.Arg515Leu) | |
| 2 | g.26482486C= | CA1239829012 | OTOF | c.1499G= (p.Arg500=) c.1544G= (p.Arg515=) | |
| 2 | g.26482486C>G | CA346135380 | OTOF | c.1499G>C (p.Arg500Pro) c.1544G>C (p.Arg515Pro) | |
| 2 | g.26482486C>T | CA1564257 | OTOF | c.1499G>A (p.Arg500Gln) c.1544G>A (p.Arg515Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.26482487G>A | CA1564258 | OTOF | c.1498C>T (p.Arg500Ter) c.1543C>T (p.Arg515Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26482487G>C | CA346135385 | OTOF | c.1498C>G (p.Arg500Gly) c.1543C>G (p.Arg515Gly) | |
| 2 | g.26482487G= | CA1239829015 | OTOF | c.1498C= (p.Arg500=) c.1543C= (p.Arg515=) | |
| 2 | g.26482487G>T | CA425206560 | OTOF | c.1498C>A (p.Arg500=) c.1543C>A (p.Arg515=) | |
| 2 | g.26482488G>A | CA425206562 | OTOF | c.1497C>T (p.Ile499=) c.1542C>T (p.Ile514=) | |
| 2 | g.26482488G>C | CA346135389 | OTOF | c.1497C>G (p.Ile499Met) c.1542C>G (p.Ile514Met) | |
| 2 | g.26482488G>T | CA425206564 | OTOF | c.1497C>A (p.Ile499=) c.1542C>A (p.Ile514=) | |
| 2 | g.26482489A>C | CA346135393 | OTOF | c.1496T>G (p.Ile499Ser) c.1541T>G (p.Ile514Ser) | |
| 2 | g.26482489A>G | CA346135395 | OTOF | c.1496T>C (p.Ile499Thr) c.1541T>C (p.Ile514Thr) | |
| 2 | g.26482489A>T | CA346135397 | OTOF | c.1496T>A (p.Ile499Asn) c.1541T>A (p.Ile514Asn) | |
| 2 | g.26482490T>A | CA346135401 | OTOF | c.1495A>T (p.Ile499Phe) c.1540A>T (p.Ile514Phe) | |
| 2 | g.26482490T>C | CA346135405 | OTOF | c.1495A>G (p.Ile499Val) c.1540A>G (p.Ile514Val) | |
| 2 | g.26482490T>G | CA346135403 | OTOF | c.1495A>C (p.Ile499Leu) c.1540A>C (p.Ile514Leu) | |
| 2 | g.26482491C>A | CA346135409 | OTOF | c.1494G>T (p.Gln498His) c.1539G>T (p.Gln513His) | |
| 2 | g.26482491C>G | CA346135412 | OTOF | c.1494G>C (p.Gln498His) c.1539G>C (p.Gln513His) | |
| 2 | g.26482491C>T | CA425206574 | OTOF | c.1494G>A (p.Gln498=) c.1539G>A (p.Gln513=) | |
| 2 | g.26482492T>A | CA346135416 | OTOF | c.1493A>T (p.Gln498Leu) c.1538A>T (p.Gln513Leu) | |
| 2 | g.26482492T>C | CA346135418 | OTOF | c.1493A>G (p.Gln498Arg) c.1538A>G (p.Gln513Arg) | |
| 2 | g.26482492T>G | CA346135420 | OTOF | c.1493A>C (p.Gln498Pro) c.1538A>C (p.Gln513Pro) | ClinVar |
| 2 | g.26482493G>A | CA346135424 | OTOF | c.1492C>T (p.Gln498Ter) c.1537C>T (p.Gln513Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26482493G>C | CA346135425 | OTOF | c.1492C>G (p.Gln498Glu) c.1537C>G (p.Gln513Glu) | |
| 2 | g.26482493G= | CA1239829017 | OTOF | c.1492C= (p.Gln498=) c.1537C= (p.Gln513=) | |
| 2 | g.26482493G>T | CA346135427 | OTOF | c.1492C>A (p.Gln498Lys) c.1537C>A (p.Gln513Lys) | |
| 2 | g.26482494C>A | CA425206578 | OTOF | c.1491G>T (p.Val497=) c.1536G>T (p.Val512=) | |
| 2 | g.26482494C>G | CA425206579 | OTOF | c.1491G>C (p.Val497=) c.1536G>C (p.Val512=) | |
| 2 | g.26482494C>T | CA425206581 | OTOF | c.1491G>A (p.Val497=) c.1536G>A (p.Val512=) | |
| 2 | g.26482495A>C | CA346135430 | OTOF | c.1490T>G (p.Val497Gly) c.1535T>G (p.Val512Gly) | gnomAD v4 |
| 2 | g.26482495A>G | CA346135433 | OTOF | c.1490T>C (p.Val497Ala) c.1535T>C (p.Val512Ala) | |
| 2 | g.26482495A>T | CA346135435 | OTOF | c.1490T>A (p.Val497Glu) c.1535T>A (p.Val512Glu) | |
| 2 | g.26482496C>A | CA346135439 | OTOF | c.1489G>T (p.Val497Leu) c.1534G>T (p.Val512Leu) | dbSNP |
| 2 | g.26482496C= | CA1239829025 | OTOF | c.1489G= (p.Val497=) c.1534G= (p.Val512=) | |
| 2 | g.26482496C>G | CA346135442 | OTOF | c.1489G>C (p.Val497Leu) c.1534G>C (p.Val512Leu) | |
| 2 | g.26482496C>T | CA1564259 | OTOF | c.1489G>A (p.Val497Met) c.1534G>A (p.Val512Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26482497C>A | CA346135445 | OTOF | c.1488G>T (p.Lys496Asn) c.1533G>T (p.Lys511Asn) | |
| 2 | g.26482497C>G | CA346135448 | OTOF | c.1488G>C (p.Lys496Asn) c.1533G>C (p.Lys511Asn) | gnomAD v4 |
| 2 | g.26482497C>T | CA425206586 | OTOF | c.1488G>A (p.Lys496=) c.1533G>A (p.Lys511=) | |
| 2 | g.26482498T>A | CA346135461 | OTOF | c.1487A>T (p.Lys496Met) c.1532A>T (p.Lys511Met) | |
| 2 | g.26482498T>C | CA346135464 | OTOF | c.1487A>G (p.Lys496Arg) c.1532A>G (p.Lys511Arg) | |
| 2 | g.26482498T>G | CA346135462 | OTOF | c.1487A>C (p.Lys496Thr) c.1532A>C (p.Lys511Thr) | |
| 2 | g.26482499T>A | CA346135468 | OTOF | c.1486A>T (p.Lys496Ter) c.1531A>T (p.Lys511Ter) | |
| 2 | g.26482499T>C | CA346135483 | OTOF | c.1486A>G (p.Lys496Glu) c.1531A>G (p.Lys511Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26482499T>G | CA346135486 | OTOF | c.1486A>C (p.Lys496Gln) c.1531A>C (p.Lys511Gln) | |
| 2 | g.26482499T= | CA1239829031 | OTOF | c.1486A= (p.Lys496=) c.1531A= (p.Lys511=) | |
| 2 | g.26482500C>A | CA346135491 | OTOF | c.1485G>T (p.Met495Ile) c.1530G>T (p.Met510Ile) | COSMIC |
| 2 | g.26482500C>G | CA346135493 | OTOF | c.1485G>C (p.Met495Ile) c.1530G>C (p.Met510Ile) | |
| 2 | g.26482500C>T | CA346135495 | OTOF | c.1485G>A (p.Met495Ile) c.1530G>A (p.Met510Ile) | |
| 2 | g.26482501A= | CA1239829032 | OTOF | c.1484T= (p.Met495=) c.1529T= (p.Met510=) | |
| 2 | g.26482501A>C | CA346135498 | OTOF | c.1484T>G (p.Met495Arg) c.1529T>G (p.Met510Arg) | gnomAD v4 |
| 2 | g.26482501A>G | CA346135500 | OTOF | c.1484T>C (p.Met495Thr) c.1529T>C (p.Met510Thr) | dbSNP gnomAD v4 |
| 2 | g.26482501A>T | CA346135503 | OTOF | c.1484T>A (p.Met495Lys) c.1529T>A (p.Met510Lys) | |
| 2 | g.26482502T>A | CA346135506 | OTOF | c.1483A>T (p.Met495Leu) c.1528A>T (p.Met510Leu) | |
| 2 | g.26482502T>C | CA346135508 | OTOF | c.1483A>G (p.Met495Val) c.1528A>G (p.Met510Val) | |
| 2 | g.26482502T>G | CA346135510 | OTOF | c.1483A>C (p.Met495Leu) c.1528A>C (p.Met510Leu) | |
| 2 | g.26482503G>A | CA425206592 | OTOF | c.1482C>T (p.Arg494=) c.1527C>T (p.Arg509=) | |
| 2 | g.26482503G>C | CA425206594 | OTOF | c.1482C>G (p.Arg494=) c.1527C>G (p.Arg509=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26482503G= | CA1239829035 | OTOF | c.1482C= (p.Arg494=) c.1527C= (p.Arg509=) | |
| 2 | g.26482503G>T | CA425206593 | OTOF | c.1482C>A (p.Arg494=) c.1527C>A (p.Arg509=) | |
| 2 | g.26482504del | CA645529723 | OTOF | c.1481del (p.Arg494ProfsTer2) c.1526del (p.Arg509ProfsTer2) | COSMIC |
| 2 | g.26482504C>A | CA44401587 | OTOF | c.1481G>T (p.Arg494Leu) c.1526G>T (p.Arg509Leu) | dbSNP gnomAD v4 |
| 2 | g.26482504C= | CA1239829040 | OTOF | c.1481G= (p.Arg494=) c.1526G= (p.Arg509=) | |
| 2 | g.26482504C>G | CA346135514 | OTOF | c.1481G>C (p.Arg494Pro) c.1526G>C (p.Arg509Pro) | |
| 2 | g.26482504C>T | CA1564260 | OTOF | c.1481G>A (p.Arg494His) c.1526G>A (p.Arg509His) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 2 | g.26482504_26482506del | CA2586968846 | OTOF | c.1479_1481del (p.Lys493_Arg494delinsAsn) c.1524_1526del (p.Lys508_Arg509delinsAsn) | |
| 2 | g.26482505G>A | CA1564261 | OTOF | c.1480C>T (p.Arg494Cys) c.1525C>T (p.Arg509Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.26482505G>C | CA346135523 | OTOF | c.1480C>G (p.Arg494Gly) c.1525C>G (p.Arg509Gly) | |
| 2 | g.26482505G= | CA1239829045 | OTOF | c.1480C= (p.Arg494=) c.1525C= (p.Arg509=) | |
| 2 | g.26482505G>T | CA346135526 | OTOF | c.1480C>A (p.Arg494Ser) c.1525C>A (p.Arg509Ser) | COSMIC |
| 2 | g.26482506T>A | CA346135528 | OTOF | c.1479A>T (p.Lys493Asn) c.1524A>T (p.Lys508Asn) | |
| 2 | g.26482506T>C | CA425206602 | OTOF | c.1479A>G (p.Lys493=) c.1524A>G (p.Lys508=) | |
| 2 | g.26482506T>G | CA346135531 | OTOF | c.1479A>C (p.Lys493Asn) c.1524A>C (p.Lys508Asn) | |
| 2 | g.26482507_26482508dup | CA2658238775 | OTOF | c.1478_1479dup (p.Arg494AsnfsTer3) c.1523_1524dup (p.Arg509AsnfsTer3) | gnomAD v4 |
| 2 | g.26482508del | CA2658238776 | OTOF | c.1479del (p.Lys493AsnfsTer3) c.1524del (p.Lys508AsnfsTer3) | gnomAD v4 |
| 2 | g.26482507T>A | CA346135534 | OTOF | c.1478A>T (p.Lys493Ile) c.1523A>T (p.Lys508Ile) | |
| 2 | g.26482507T>C | CA346135537 | OTOF | c.1478A>G (p.Lys493Arg) c.1523A>G (p.Lys508Arg) | |
| 2 | g.26482507T>G | CA346135539 | OTOF | c.1478A>C (p.Lys493Thr) c.1523A>C (p.Lys508Thr) | |
| 2 | g.26482508T>A | CA346135541 | OTOF | c.1477A>T (p.Lys493Ter) c.1522A>T (p.Lys508Ter) | |
| 2 | g.26482508T>C | CA346135542 | OTOF | c.1477A>G (p.Lys493Glu) c.1522A>G (p.Lys508Glu) | |
| 2 | g.26482508T>G | CA346135544 | OTOF | c.1477A>C (p.Lys493Gln) c.1522A>C (p.Lys508Gln) | |
| 2 | g.26482509G>A | CA425206605 | OTOF | c.1476C>T (p.Cys492=) c.1521C>T (p.Cys507=) | |
| 2 | g.26482509G>C | CA346135547 | OTOF | c.1476C>G (p.Cys492Trp) c.1521C>G (p.Cys507Trp) | |
| 2 | g.26482509G>T | CA346135549 | OTOF | c.1476C>A (p.Cys492Ter) c.1521C>A (p.Cys507Ter) | |
| 2 | g.26482510C>A | CA346135553 | OTOF | c.1475G>T (p.Cys492Phe) c.1520G>T (p.Cys507Phe) | |
| 2 | g.26482510C= | CA1239829048 | OTOF | c.1475G= (p.Cys492=) c.1520G= (p.Cys507=) | |
| 2 | g.26482510C>G | CA346135555 | OTOF | c.1475G>C (p.Cys492Ser) c.1520G>C (p.Cys507Ser) | |
| 2 | g.26482510C>T | CA346135557 | OTOF | c.1475G>A (p.Cys492Tyr) c.1520G>A (p.Cys507Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26482511A= | CA1239829049 | OTOF | c.1474T= (p.Cys492=) c.1519T= (p.Cys507=) | |
| 2 | g.26482511A>C | CA346135559 | OTOF | c.1474T>G (p.Cys492Gly) c.1519T>G (p.Cys507Gly) | |
| 2 | g.26482511A>G | CA346135562 | OTOF | c.1474T>C (p.Cys492Arg) c.1519T>C (p.Cys507Arg) | dbSNP gnomAD v4 |
| 2 | g.26482511A>T | CA346135565 | OTOF | c.1474T>A (p.Cys492Ser) c.1519T>A (p.Cys507Ser) | |
| 2 | g.26482512G>A | CA425206618 | OTOF | c.1473C>T (p.Leu491=) c.1518C>T (p.Leu506=) | dbSNP gnomAD v4 |
| 2 | g.26482512G>C | CA425206620 | OTOF | c.1473C>G (p.Leu491=) c.1518C>G (p.Leu506=) | |
| 2 | g.26482512G= | CA1239829051 | OTOF | c.1473C= (p.Leu491=) c.1518C= (p.Leu506=) | |
| 2 | g.26482512G>T | CA425206621 | OTOF | c.1473C>A (p.Leu491=) c.1518C>A (p.Leu506=) | |
| 2 | g.26482513A>C | CA346135567 | OTOF | c.1472T>G (p.Leu491Arg) c.1517T>G (p.Leu506Arg) | |
| 2 | g.26482513A>G | CA346135570 | OTOF | c.1472T>C (p.Leu491Pro) c.1517T>C (p.Leu506Pro) | |
| 2 | g.26482513A>T | CA346135572 | OTOF | c.1472T>A (p.Leu491His) c.1517T>A (p.Leu506His) | gnomAD v4 |
| 2 | g.26482514G>A | CA1564262 | OTOF | c.1471C>T (p.Leu491Phe) c.1516C>T (p.Leu506Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26482514G>C | CA346135577 | OTOF | c.1471C>G (p.Leu491Val) c.1516C>G (p.Leu506Val) | |
| 2 | g.26482514G= | CA1239829056 | OTOF | c.1471C= (p.Leu491=) c.1516C= (p.Leu506=) | |
| 2 | g.26482514G>T | CA346135580 | OTOF | c.1471C>A (p.Leu491Ile) c.1516C>A (p.Leu506Ile) | |
| 2 | g.26482515T>A | CA425206623 | OTOF | c.1470A>T (p.Pro490=) c.1515A>T (p.Pro505=) | |
| 2 | g.26482515T>C | CA425206624 | OTOF | c.1470A>G (p.Pro490=) c.1515A>G (p.Pro505=) | |
| 2 | g.26482515T>G | CA425206626 | OTOF | c.1470A>C (p.Pro490=) c.1515A>C (p.Pro505=) | gnomAD v4 |
| 2 | g.26482515_26482516delinsTG | CA1239829062 | OTOF | c.1469_1470delinsCA (p.Pro490=) c.1514_1515delinsCA (p.Pro505=) | |
| 2 | g.26482516G>A | CA44401598 | OTOF | c.1469C>T (p.Pro490Leu) c.1514C>T (p.Pro505Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26482516G>C | CA142742 | OTOF | c.1469C>G (p.Pro490Arg) c.1514C>G (p.Pro505Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26482516G= | CA1239829075 | OTOF | c.1469C= (p.Pro490=) c.1514C= (p.Pro505=) | |
| 2 | g.26482516G>T | CA342559 | OTOF | c.1469C>A (p.Pro490Gln) c.1514C>A (p.Pro505Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26482521dup | CA531395944 | OTOF | c.1469dup (p.Leu491ThrfsTer26) c.1514dup (p.Leu506ThrfsTer26) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26482521del | CA1564263 | OTOF | c.1469del (p.Pro490HisfsTer6) c.1514del (p.Pro505HisfsTer6) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.26482520_26482521del | CA2658238777 | OTOF | c.1468_1469del (p.Pro490ThrfsTer26) c.1513_1514del (p.Pro505ThrfsTer26) | ClinVar gnomAD v4 |
| 2 | g.26482517G>A | CA346135591 | OTOF | c.1468C>T (p.Pro490Ser) c.1513C>T (p.Pro505Ser) | gnomAD v4 |
| 2 | g.26482517G>C | CA346135594 | OTOF | c.1468C>G (p.Pro490Ala) c.1513C>G (p.Pro505Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26482517G= | CA1239829082 | OTOF | c.1468C= (p.Pro490=) c.1513C= (p.Pro505=) | |
| 2 | g.26482517G>T | CA346135595 | OTOF | c.1468C>A (p.Pro490Thr) c.1513C>A (p.Pro505Thr) | |
| 2 | g.26482518G>A | CA425206628 | OTOF | c.1467C>T (p.Pro489=) c.1512C>T (p.Pro504=) | gnomAD v4 |
| 2 | g.26482518G>C | CA425206631 | OTOF | c.1467C>G (p.Pro489=) c.1512C>G (p.Pro504=) | |
| 2 | g.26482518G>T | CA425206629 | OTOF | c.1467C>A (p.Pro489=) c.1512C>A (p.Pro504=) | |
| 2 | g.26482519G>A | CA346135601 | OTOF | c.1466C>T (p.Pro489Leu) c.1511C>T (p.Pro504Leu) | |
| 2 | g.26482519G>C | CA346135609 | OTOF | c.1466C>G (p.Pro489Arg) c.1511C>G (p.Pro504Arg) | |
| 2 | g.26482519G>T | CA346135611 | OTOF | c.1466C>A (p.Pro489His) c.1511C>A (p.Pro504His) | |
| 2 | g.26482520G>A | CA346135618 | OTOF | c.1465C>T (p.Pro489Ser) c.1510C>T (p.Pro504Ser) | |
| 2 | g.26482520G>C | CA346135620 | OTOF | c.1465C>G (p.Pro489Ala) c.1510C>G (p.Pro504Ala) | |
| 2 | g.26482520G>T | CA346135622 | OTOF | c.1465C>A (p.Pro489Thr) c.1510C>A (p.Pro504Thr) | gnomAD v4 |
| 2 | g.26482521G>A | CA425206636 | OTOF | c.1464C>T (p.Phe488=) c.1509C>T (p.Phe503=) | dbSNP COSMIC |
| 2 | g.26482521G>C | CA346135624 | OTOF | c.1464C>G (p.Phe488Leu) c.1509C>G (p.Phe503Leu) | |
| 2 | g.26482521G= | CA1239829087 | OTOF | c.1464C= (p.Phe488=) c.1509C= (p.Phe503=) | |
| 2 | g.26482521G>T | CA1564264 | OTOF | c.1464C>A (p.Phe488Leu) c.1509C>A (p.Phe503Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26482522A= | CA1239829091 | OTOF | c.1463T= (p.Phe488=) c.1508T= (p.Phe503=) | |
| 2 | g.26482522A>C | CA346135631 | OTOF | c.1463T>G (p.Phe488Cys) c.1508T>G (p.Phe503Cys) | gnomAD v4 |
| 2 | g.26482522A>G | CA346135628 | OTOF | c.1463T>C (p.Phe488Ser) c.1508T>C (p.Phe503Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26482522A>T | CA346135627 | OTOF | c.1463T>A (p.Phe488Tyr) c.1508T>A (p.Phe503Tyr) | |
| 2 | g.26482523A= | CA1239829096 | OTOF | c.1462T= (p.Phe488=) c.1507T= (p.Phe503=) | |
| 2 | g.26482523A>C | CA346135635 | OTOF | c.1462T>G (p.Phe488Val) c.1507T>G (p.Phe503Val) | |
| 2 | g.26482523A>G | CA44401603 | OTOF | c.1462T>C (p.Phe488Leu) c.1507T>C (p.Phe503Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26482523A>T | CA346135637 | OTOF | c.1462T>A (p.Phe488Ile) c.1507T>A (p.Phe503Ile) | |
| 2 | g.26482524G>A | CA425206646 | OTOF | c.1461C>T (p.Leu487=) c.1506C>T (p.Leu502=) | gnomAD v4 |
| 2 | g.26482524G>C | CA425206644 | OTOF | c.1461C>G (p.Leu487=) c.1506C>G (p.Leu502=) | |
| 2 | g.26482524G>T | CA425206647 | OTOF | c.1461C>A (p.Leu487=) c.1506C>A (p.Leu502=) | |
| 2 | g.26482525A>C | CA346135639 | OTOF | c.1460T>G (p.Leu487Arg) c.1505T>G (p.Leu502Arg) | |
| 2 | g.26482525A>G | CA346135640 | OTOF | c.1460T>C (p.Leu487Pro) c.1505T>C (p.Leu502Pro) | |
| 2 | g.26482525A>T | CA346135641 | OTOF | c.1460T>A (p.Leu487His) c.1505T>A (p.Leu502His) | gnomAD v4 |
| 2 | g.26482526G>A | CA346135642 | OTOF | c.1459C>T (p.Leu487Phe) c.1504C>T (p.Leu502Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26482526G>C | CA346135643 | OTOF | c.1459C>G (p.Leu487Val) c.1504C>G (p.Leu502Val) | |
| 2 | g.26482526G= | CA1239829098 | OTOF | c.1459C= (p.Leu487=) c.1504C= (p.Leu502=) | |
| 2 | g.26482526G>T | CA346135644 | OTOF | c.1459C>A (p.Leu487Ile) c.1504C>A (p.Leu502Ile) | |
| 2 | g.26482527G>A | CA425206658 | OTOF | c.1458C>T (p.Asp486=) c.1503C>T (p.Asp501=) | ClinVar gnomAD v4 |
| 2 | g.26482527G>C | CA346135645 | OTOF | c.1458C>G (p.Asp486Glu) c.1503C>G (p.Asp501Glu) | |
| 2 | g.26482527G>T | CA346135647 | OTOF | c.1458C>A (p.Asp486Glu) c.1503C>A (p.Asp501Glu) | |
| 2 | g.26482528T>A | CA346135649 | OTOF | c.1457A>T (p.Asp486Val) c.1502A>T (p.Asp501Val) | |
| 2 | g.26482528T>C | CA346135650 | OTOF | c.1457A>G (p.Asp486Gly) c.1502A>G (p.Asp501Gly) | |
| 2 | g.26482528T>G | CA346135651 | OTOF | c.1457A>C (p.Asp486Ala) c.1502A>C (p.Asp501Ala) | dbSNP |
| 2 | g.26482528T= | CA1239829101 | OTOF | c.1457A= (p.Asp486=) c.1502A= (p.Asp501=) | |
| 2 | g.26482529C>A | CA346135658 | OTOF | c.1456G>T (p.Asp486Tyr) c.1501G>T (p.Asp501Tyr) | gnomAD v4 |
| 2 | g.26482529C>G | CA346135653 | OTOF | c.1456G>C (p.Asp486His) c.1501G>C (p.Asp501His) | |
| 2 | g.26482529C>T | CA346135655 | OTOF | c.1456G>A (p.Asp486Asn) c.1501G>A (p.Asp501Asn) | |
| 2 | g.26482530T>A | CA425206660 | OTOF | c.1455A>T (p.Thr485=) c.1500A>T (p.Thr500=) | |
| 2 | g.26482530T>C | CA425206663 | OTOF | c.1455A>G (p.Thr485=) c.1500A>G (p.Thr500=) | |
| 2 | g.26482530T>G | CA425206662 | OTOF | c.1455A>C (p.Thr485=) c.1500A>C (p.Thr500=) | |
| 2 | g.26482531G>A | CA346135661 | OTOF | c.1454C>T (p.Thr485Ile) c.1499C>T (p.Thr500Ile) | |
| 2 | g.26482531G>C | CA346135663 | OTOF | c.1454C>G (p.Thr485Arg) c.1499C>G (p.Thr500Arg) | |
| 2 | g.26482531G>T | CA346135664 | OTOF | c.1454C>A (p.Thr485Lys) c.1499C>A (p.Thr500Lys) | |
| 2 | g.26482532T>A | CA346135666 | OTOF | c.1453A>T (p.Thr485Ser) c.1498A>T (p.Thr500Ser) | |
| 2 | g.26482532T>C | CA346135668 | OTOF | c.1453A>G (p.Thr485Ala) c.1498A>G (p.Thr500Ala) | |
| 2 | g.26482532T>G | CA346135670 | OTOF | c.1453A>C (p.Thr485Pro) c.1498A>C (p.Thr500Pro) | |
| 2 | g.26482533A>C | CA346135672 | OTOF | c.1452T>G (p.Phe484Leu) c.1497T>G (p.Phe499Leu) | |
| 2 | g.26482533A>G | CA425206667 | OTOF | c.1452T>C (p.Phe484=) c.1497T>C (p.Phe499=) | ClinVar gnomAD v4 |
| 2 | g.26482533A>T | CA346135674 | OTOF | c.1452T>A (p.Phe484Leu) c.1497T>A (p.Phe499Leu) | |
| 2 | g.26482534A>C | CA346135678 | OTOF | c.1451T>G (p.Phe484Cys) c.1496T>G (p.Phe499Cys) | |
| 2 | g.26482534A>G | CA346135680 | OTOF | c.1451T>C (p.Phe484Ser) c.1496T>C (p.Phe499Ser) | |
| 2 | g.26482534A>T | CA346135682 | OTOF | c.1451T>A (p.Phe484Tyr) c.1496T>A (p.Phe499Tyr) | |
| 2 | g.26482535A>C | CA346135686 | OTOF | c.1450T>G (p.Phe484Val) c.1495T>G (p.Phe499Val) | |
| 2 | g.26482535A>G | CA346135688 | OTOF | c.1450T>C (p.Phe484Leu) c.1495T>C (p.Phe499Leu) | gnomAD v4 |
| 2 | g.26482535A>T | CA346135685 | OTOF | c.1450T>A (p.Phe484Ile) c.1495T>A (p.Phe499Ile) | |
| 2 | g.26482536G>A | CA425206676 | OTOF | c.1449C>T (p.Val483=) c.1494C>T (p.Val498=) | |
| 2 | g.26482536G>C | CA425206677 | OTOF | c.1449C>G (p.Val483=) c.1494C>G (p.Val498=) | |
| 2 | g.26482536G>T | CA425206678 | OTOF | c.1449C>A (p.Val483=) c.1494C>A (p.Val498=) | |
| 2 | g.26482537A= | CA1239829105 | OTOF | c.1448T= (p.Val483=) c.1493T= (p.Val498=) | |
| 2 | g.26482537A>C | CA346135691 | OTOF | c.1448T>G (p.Val483Gly) c.1493T>G (p.Val498Gly) | |
| 2 | g.26482537A>G | CA346135694 | OTOF | c.1448T>C (p.Val483Ala) c.1493T>C (p.Val498Ala) | dbSNP |
| 2 | g.26482537A>T | CA346135696 | OTOF | c.1448T>A (p.Val483Asp) c.1493T>A (p.Val498Asp) | |
| 2 | g.26482538C>A | CA346135698 | OTOF | c.1447G>T (p.Val483Phe) c.1492G>T (p.Val498Phe) | |
| 2 | g.26482538C= | CA1239829108 | OTOF | c.1447G= (p.Val483=) c.1492G= (p.Val498=) | |
| 2 | g.26482538C>G | CA346135701 | OTOF | c.1447G>C (p.Val483Leu) c.1492G>C (p.Val498Leu) | |
| 2 | g.26482538C>T | CA1564265 | OTOF | c.1447G>A (p.Val483Ile) c.1492G>A (p.Val498Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.26482539G>A | CA1564266 | OTOF | c.1446C>T (p.Val482=) c.1491C>T (p.Val497=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 2 | g.26482539G>C | CA425206683 | OTOF | c.1446C>G (p.Val482=) c.1491C>G (p.Val497=) | |
| 2 | g.26482539G= | CA1239829111 | OTOF | c.1446C= (p.Val482=) c.1491C= (p.Val497=) | |
| 2 | g.26482539G>T | CA425206684 | OTOF | c.1446C>A (p.Val482=) c.1491C>A (p.Val497=) | |
| 2 | g.26482540A>C | CA346135710 | OTOF | c.1445T>G (p.Val482Gly) c.1490T>G (p.Val497Gly) | |
| 2 | g.26482540A>G | CA346135713 | OTOF | c.1445T>C (p.Val482Ala) c.1490T>C (p.Val497Ala) | |
| 2 | g.26482540A>T | CA346135715 | OTOF | c.1445T>A (p.Val482Asp) c.1490T>A (p.Val497Asp) | |
| 2 | g.26482541C>A | CA346135719 | OTOF | c.1444G>T (p.Val482Phe) c.1489G>T (p.Val497Phe) | |
| 2 | g.26482541C>G | CA346135721 | OTOF | c.1444G>C (p.Val482Leu) c.1489G>C (p.Val497Leu) | |
| 2 | g.26482541C>T | CA346135723 | OTOF | c.1444G>A (p.Val482Ile) c.1489G>A (p.Val497Ile) |