Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.26480879_26480894dup | CA2658238262 | OTOF | c.1696_1711dup (p.Leu571ProfsTer19) c.1741_1756dup (p.Leu586ProfsTer19) | gnomAD v4 |
2 | g.26480894dup | CA2658238271 | OTOF | c.1696dup (p.Arg566ProfsTer19) c.1741dup (p.Arg581ProfsTer19) | gnomAD v4 |
2 | g.26480894G>A | CA425206011 | OTOF | c.1695C>T (p.Phe565=) c.1740C>T (p.Phe580=) | |
2 | g.26480894G>C | CA346133272 | OTOF | c.1695C>G (p.Phe565Leu) c.1740C>G (p.Phe580Leu) | |
2 | g.26480894G>T | CA346133274 | OTOF | c.1695C>A (p.Phe565Leu) c.1740C>A (p.Phe580Leu) | |
2 | g.26480895A= | CA1239827806 | OTOF | c.1694T= (p.Phe565=) c.1739T= (p.Phe580=) | |
2 | g.26480895A>C | CA346133282 | OTOF | c.1694T>G (p.Phe565Cys) c.1739T>G (p.Phe580Cys) | |
2 | g.26480895A>G | CA346133280 | OTOF | c.1694T>C (p.Phe565Ser) c.1739T>C (p.Phe580Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.26480895A>T | CA346133277 | OTOF | c.1694T>A (p.Phe565Tyr) c.1739T>A (p.Phe580Tyr) | |
2 | g.26480896A>C | CA346133286 | OTOF | c.1693T>G (p.Phe565Val) c.1738T>G (p.Phe580Val) | |
2 | g.26480896A>G | CA346133288 | OTOF | c.1693T>C (p.Phe565Leu) c.1738T>C (p.Phe580Leu) | |
2 | g.26480896A>T | CA346133290 | OTOF | c.1693T>A (p.Phe565Ile) c.1738T>A (p.Phe580Ile) | |
2 | g.26480897G>A | CA425206013 | OTOF | c.1692C>T (p.Ser564=) c.1737C>T (p.Ser579=) | gnomAD v4 COSMIC |
2 | g.26480897G>C | CA425206015 | OTOF | c.1692C>G (p.Ser564=) c.1737C>G (p.Ser579=) | |
2 | g.26480897G>T | CA425206016 | OTOF | c.1692C>A (p.Ser564=) c.1737C>A (p.Ser579=) | |
2 | g.26480898G>A | CA346133293 | OTOF | c.1691C>T (p.Ser564Phe) c.1736C>T (p.Ser579Phe) | gnomAD v4 |
2 | g.26480898G>C | CA346133295 | OTOF | c.1691C>G (p.Ser564Cys) c.1736C>G (p.Ser579Cys) | |
2 | g.26480898G>T | CA346133297 | OTOF | c.1691C>A (p.Ser564Tyr) c.1736C>A (p.Ser579Tyr) | |
2 | g.26480899A>C | CA346133300 | OTOF | c.1690T>G (p.Ser564Ala) c.1735T>G (p.Ser579Ala) | |
2 | g.26480899A>G | CA346133305 | OTOF | c.1690T>C (p.Ser564Pro) c.1735T>C (p.Ser579Pro) | |
2 | g.26480899A>T | CA346133302 | OTOF | c.1690T>A (p.Ser564Thr) c.1735T>A (p.Ser579Thr) | |
2 | g.26480900C>A | CA425206020 | OTOF | c.1689G>T (p.Val563=) c.1734G>T (p.Val578=) | |
2 | g.26480900C>G | CA425206021 | OTOF | c.1689G>C (p.Val563=) c.1734G>C (p.Val578=) | |
2 | g.26480900C>T | CA425206022 | OTOF | c.1689G>A (p.Val563=) c.1734G>A (p.Val578=) | ClinVar gnomAD v4 |
2 | g.26480901A>C | CA346133308 | OTOF | c.1688T>G (p.Val563Gly) c.1733T>G (p.Val578Gly) | |
2 | g.26480901A>G | CA346133310 | OTOF | c.1688T>C (p.Val563Ala) c.1733T>C (p.Val578Ala) | |
2 | g.26480901A>T | CA346133312 | OTOF | c.1688T>A (p.Val563Glu) c.1733T>A (p.Val578Glu) | |
2 | g.26480902C>A | CA346133315 | OTOF | c.1687G>T (p.Val563Leu) c.1732G>T (p.Val578Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26480902C= | CA1239827808 | OTOF | c.1687G= (p.Val563=) c.1732G= (p.Val578=) | |
2 | g.26480902C>G | CA346133318 | OTOF | c.1687G>C (p.Val563Leu) c.1732G>C (p.Val578Leu) | |
2 | g.26480902C>T | CA346133320 | OTOF | c.1687G>A (p.Val563Met) c.1732G>A (p.Val578Met) | |
2 | g.26480903A>C | CA425206026 | OTOF | c.1686T>G (p.Gly562=) c.1731T>G (p.Gly577=) | |
2 | g.26480903A>G | CA425206027 | OTOF | c.1686T>C (p.Gly562=) c.1731T>C (p.Gly577=) | |
2 | g.26480903A>T | CA425206029 | OTOF | c.1686T>A (p.Gly562=) c.1731T>A (p.Gly577=) | |
2 | g.26480904C>A | CA346133323 | OTOF | c.1685G>T (p.Gly562Val) c.1730G>T (p.Gly577Val) | |
2 | g.26480904C>G | CA346133325 | OTOF | c.1685G>C (p.Gly562Ala) c.1730G>C (p.Gly577Ala) | |
2 | g.26480904C>T | CA346133327 | OTOF | c.1685G>A (p.Gly562Asp) c.1730G>A (p.Gly577Asp) | |
2 | g.26480905C>A | CA346133330 | OTOF | c.1684G>T (p.Gly562Cys) c.1729G>T (p.Gly577Cys) | |
2 | g.26480905C= | CA1239827809 | OTOF | c.1684G= (p.Gly562=) c.1729G= (p.Gly577=) | |
2 | g.26480905C>G | CA346133333 | OTOF | c.1684G>C (p.Gly562Arg) c.1729G>C (p.Gly577Arg) | gnomAD v4 |
2 | g.26480905C>T | CA346133335 | OTOF | c.1684G>A (p.Gly562Ser) c.1729G>A (p.Gly577Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26480906C>A | CA346133340 | OTOF | c.1683G>T (p.Glu561Asp) c.1728G>T (p.Glu576Asp) | |
2 | g.26480906C>G | CA346133339 | OTOF | c.1683G>C (p.Glu561Asp) c.1728G>C (p.Glu576Asp) | |
2 | g.26480906C>T | CA425206034 | OTOF | c.1683G>A (p.Glu561=) c.1728G>A (p.Glu576=) | |
2 | g.26480907del | CA645529722 | OTOF | c.1682del (p.Glu561GlyfsTer18) c.1727del (p.Glu576GlyfsTer18) | COSMIC |
2 | g.26480907T>A | CA346133344 | OTOF | c.1682A>T (p.Glu561Val) c.1727A>T (p.Glu576Val) | |
2 | g.26480907T>C | CA346133348 | OTOF | c.1682A>G (p.Glu561Gly) c.1727A>G (p.Glu576Gly) | |
2 | g.26480907T>G | CA346133346 | OTOF | c.1682A>C (p.Glu561Ala) c.1727A>C (p.Glu576Ala) | |
2 | g.26480908C>A | CA346133351 | OTOF | c.1681G>T (p.Glu561Ter) c.1726G>T (p.Glu576Ter) | dbSNP |
2 | g.26480908C= | CA1239827810 | OTOF | c.1681G= (p.Glu561=) c.1726G= (p.Glu576=) | |
2 | g.26480908C>G | CA346133353 | OTOF | c.1681G>C (p.Glu561Gln) c.1726G>C (p.Glu576Gln) | |
2 | g.26480908C>T | CA1564199 | OTOF | c.1681G>A (p.Glu561Lys) c.1726G>A (p.Glu576Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26480909C>A | CA425206039 | OTOF | c.1680G>T (p.Gly560=) c.1725G>T (p.Gly575=) | |
2 | g.26480909C= | CA1239827812 | OTOF | c.1680G= (p.Gly560=) c.1725G= (p.Gly575=) | |
2 | g.26480909C>G | CA425206042 | OTOF | c.1680G>C (p.Gly560=) c.1725G>C (p.Gly575=) | |
2 | g.26480909C>T | CA425206041 | OTOF | c.1680G>A (p.Gly560=) c.1725G>A (p.Gly575=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26480910C>A | CA346133358 | OTOF | c.1679G>T (p.Gly560Val) c.1724G>T (p.Gly575Val) | |
2 | g.26480910C= | CA1239827813 | OTOF | c.1679G= (p.Gly560=) c.1724G= (p.Gly575=) | |
2 | g.26480910C>G | CA1564200 | OTOF | c.1679G>C (p.Gly560Ala) c.1724G>C (p.Gly575Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26480910C>T | CA346133362 | OTOF | c.1679G>A (p.Gly560Glu) c.1724G>A (p.Gly575Glu) | dbSNP |
2 | g.26480911C>A | CA1564201 | OTOF | c.1678G>T (p.Gly560Trp) c.1723G>T (p.Gly575Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26480911C= | CA1239827814 | OTOF | c.1678G= (p.Gly560=) c.1723G= (p.Gly575=) | |
2 | g.26480911C>G | CA346133368 | OTOF | c.1678G>C (p.Gly560Arg) c.1723G>C (p.Gly575Arg) | gnomAD v4 |
2 | g.26480911C>T | CA346133370 | OTOF | c.1678G>A (p.Gly560Arg) c.1723G>A (p.Gly575Arg) | |
2 | g.26480912C>A | CA425206046 | OTOF | c.1677G>T (p.Leu559=) c.1722G>T (p.Leu574=) | |
2 | g.26480912C>G | CA425206048 | OTOF | c.1677G>C (p.Leu559=) c.1722G>C (p.Leu574=) | gnomAD v4 |
2 | g.26480912C>T | CA425206047 | OTOF | c.1677G>A (p.Leu559=) c.1722G>A (p.Leu574=) | gnomAD v4 |
2 | g.26480913A>C | CA346133374 | OTOF | c.1676T>G (p.Leu559Arg) c.1721T>G (p.Leu574Arg) | |
2 | g.26480913A>G | CA346133376 | OTOF | c.1676T>C (p.Leu559Pro) c.1721T>C (p.Leu574Pro) | |
2 | g.26480913A>T | CA346133378 | OTOF | c.1676T>A (p.Leu559Gln) c.1721T>A (p.Leu574Gln) | |
2 | g.26480914G>A | CA425206052 | OTOF | c.1675C>T (p.Leu559=) c.1720C>T (p.Leu574=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26480914G>C | CA346133381 | OTOF | c.1675C>G (p.Leu559Val) c.1720C>G (p.Leu574Val) | gnomAD v4 |
2 | g.26480914G= | CA1239827816 | OTOF | c.1675C= (p.Leu559=) c.1720C= (p.Leu574=) | |
2 | g.26480914G>T | CA346133383 | OTOF | c.1675C>A (p.Leu559Met) c.1720C>A (p.Leu574Met) | |
2 | g.26480915G>A | CA425206055 | OTOF | c.1674C>T (p.Gly558=) c.1719C>T (p.Gly573=) | COSMIC |
2 | g.26480915G>C | CA44401005 | OTOF | c.1674C>G (p.Gly558=) c.1719C>G (p.Gly573=) | dbSNP gnomAD v4 |
2 | g.26480915G= | CA1239827818 | OTOF | c.1674C= (p.Gly558=) c.1719C= (p.Gly573=) | |
2 | g.26480915G>T | CA425206056 | OTOF | c.1674C>A (p.Gly558=) c.1719C>A (p.Gly573=) | |
2 | g.26480916C>A | CA346133385 | OTOF | c.1673G>T (p.Gly558Val) c.1718G>T (p.Gly573Val) | |
2 | g.26480916C>G | CA346133386 | OTOF | c.1673G>C (p.Gly558Ala) c.1718G>C (p.Gly573Ala) | |
2 | g.26480916C>T | CA346133387 | OTOF | c.1673G>A (p.Gly558Asp) c.1718G>A (p.Gly573Asp) | gnomAD v4 |
2 | g.26480917C>A | CA346133390 | OTOF | c.1672G>T (p.Gly558Cys) c.1717G>T (p.Gly573Cys) | |
2 | g.26480917C= | CA1239827820 | OTOF | c.1672G= (p.Gly558=) c.1717G= (p.Gly573=) | |
2 | g.26480917C>G | CA346133392 | OTOF | c.1672G>C (p.Gly558Arg) c.1717G>C (p.Gly573Arg) | |
2 | g.26480917C>T | CA346133394 | OTOF | c.1672G>A (p.Gly558Ser) c.1717G>A (p.Gly573Ser) | ClinVar dbSNP gnomAD v4 |
2 | g.26480918C>A | CA346133398 | OTOF | c.1671G>T (p.Glu557Asp) c.1716G>T (p.Glu572Asp) | |
2 | g.26480918C>G | CA346133400 | OTOF | c.1671G>C (p.Glu557Asp) c.1716G>C (p.Glu572Asp) | |
2 | g.26480918C>T | CA425206060 | OTOF | c.1671G>A (p.Glu557=) c.1716G>A (p.Glu572=) | |
2 | g.26480919T>A | CA346133402 | OTOF | c.1670A>T (p.Glu557Val) c.1715A>T (p.Glu572Val) | |
2 | g.26480919T>C | CA346133403 | OTOF | c.1670A>G (p.Glu557Gly) c.1715A>G (p.Glu572Gly) | |
2 | g.26480919T>G | CA346133405 | OTOF | c.1670A>C (p.Glu557Ala) c.1715A>C (p.Glu572Ala) | |
2 | g.26480920C>A | CA346133410 | OTOF | c.1669G>T (p.Glu557Ter) c.1714G>T (p.Glu572Ter) | |
2 | g.26480920C= | CA1239827821 | OTOF | c.1669G= (p.Glu557=) c.1714G= (p.Glu572=) | |
2 | g.26480920C>G | CA44401010 | OTOF | c.1669G>C (p.Glu557Gln) c.1714G>C (p.Glu572Gln) | dbSNP |
2 | g.26480920C>T | CA1564202 | OTOF | c.1669G>A (p.Glu557Lys) c.1714G>A (p.Glu572Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26480921G>A | CA44401013 | OTOF | c.1668C>T (p.Asn556=) c.1713C>T (p.Asn571=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.26480921G>C | CA346133415 | OTOF | c.1668C>G (p.Asn556Lys) c.1713C>G (p.Asn571Lys) | gnomAD v4 |
2 | g.26480921G= | CA1239827823 | OTOF | c.1668C= (p.Asn556=) c.1713C= (p.Asn571=) | |
2 | g.26480921G>T | CA346133416 | OTOF | c.1668C>A (p.Asn556Lys) c.1713C>A (p.Asn571Lys) | gnomAD v4 |
2 | g.26480922T>A | CA346133419 | OTOF | c.1667A>T (p.Asn556Ile) c.1712A>T (p.Asn571Ile) | |
2 | g.26480922T>C | CA346133421 | OTOF | c.1667A>G (p.Asn556Ser) c.1712A>G (p.Asn571Ser) | |
2 | g.26480922T>G | CA346133422 | OTOF | c.1667A>C (p.Asn556Thr) c.1712A>C (p.Asn571Thr) | |
2 | g.26480923T>A | CA346133423 | OTOF | c.1666A>T (p.Asn556Tyr) c.1711A>T (p.Asn571Tyr) | |
2 | g.26480923T>C | CA346133424 | OTOF | c.1666A>G (p.Asn556Asp) c.1711A>G (p.Asn571Asp) | |
2 | g.26480923T>G | CA346133425 | OTOF | c.1666A>C (p.Asn556His) c.1711A>C (p.Asn571His) | |
2 | g.26480924C>A | CA425206075 | OTOF | c.1665G>T (p.Leu555=) c.1710G>T (p.Leu570=) | ClinVar |
2 | g.26480924C>G | CA425206077 | OTOF | c.1665G>C (p.Leu555=) c.1710G>C (p.Leu570=) | |
2 | g.26480924C>T | CA425206079 | OTOF | c.1665G>A (p.Leu555=) c.1710G>A (p.Leu570=) | |
2 | g.26480925A>C | CA346133428 | OTOF | c.1664T>G (p.Leu555Arg) c.1709T>G (p.Leu570Arg) | gnomAD v4 |
2 | g.26480925A>G | CA346133431 | OTOF | c.1664T>C (p.Leu555Pro) c.1709T>C (p.Leu570Pro) | |
2 | g.26480925A>T | CA346133434 | OTOF | c.1664T>A (p.Leu555Gln) c.1709T>A (p.Leu570Gln) | |
2 | g.26480926G>A | CA425206081 | OTOF | c.1663C>T (p.Leu555=) c.1708C>T (p.Leu570=) | gnomAD v4 |
2 | g.26480926G>C | CA346133436 | OTOF | c.1663C>G (p.Leu555Val) c.1708C>G (p.Leu570Val) | |
2 | g.26480926G= | CA1239827824 | OTOF | c.1663C= (p.Leu555=) c.1708C= (p.Leu570=) | |
2 | g.26480926G>T | CA346133438 | OTOF | c.1663C>A (p.Leu555Met) c.1708C>A (p.Leu570Met) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26480927G>A | CA425206084 | OTOF | c.1662C>T (p.Asp554=) c.1707C>T (p.Asp569=) | |
2 | g.26480927G>C | CA346133442 | OTOF | c.1662C>G (p.Asp554Glu) c.1707C>G (p.Asp569Glu) | |
2 | g.26480927G>T | CA346133440 | OTOF | c.1662C>A (p.Asp554Glu) c.1707C>A (p.Asp569Glu) | |
2 | g.26480928T>A | CA346133444 | OTOF | c.1661A>T (p.Asp554Val) c.1706A>T (p.Asp569Val) | gnomAD v4 |
2 | g.26480928T>C | CA346133446 | OTOF | c.1661A>G (p.Asp554Gly) c.1706A>G (p.Asp569Gly) | |
2 | g.26480928T>G | CA346133448 | OTOF | c.1661A>C (p.Asp554Ala) c.1706A>C (p.Asp569Ala) | |
2 | g.26480929C>A | CA346133449 | OTOF | c.1660G>T (p.Asp554Tyr) c.1705G>T (p.Asp569Tyr) | |
2 | g.26480929C>G | CA346133451 | OTOF | c.1660G>C (p.Asp554His) c.1705G>C (p.Asp569His) | |
2 | g.26480929C>T | CA346133453 | OTOF | c.1660G>A (p.Asp554Asn) c.1705G>A (p.Asp569Asn) | |
2 | g.26480930C>A | CA346133456 | OTOF | c.1659G>T (p.Gln553His) c.1704G>T (p.Gln568His) | |
2 | g.26480930C>G | CA346133458 | OTOF | c.1659G>C (p.Gln553His) c.1704G>C (p.Gln568His) | |
2 | g.26480930C>T | CA425206089 | OTOF | c.1659G>A (p.Gln553=) c.1704G>A (p.Gln568=) | |
2 | g.26480931T>A | CA346133462 | OTOF | c.1658A>T (p.Gln553Leu) c.1703A>T (p.Gln568Leu) | |
2 | g.26480931T>C | CA346133464 | OTOF | c.1658A>G (p.Gln553Arg) c.1703A>G (p.Gln568Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26480931T>G | CA346133466 | OTOF | c.1658A>C (p.Gln553Pro) c.1703A>C (p.Gln568Pro) | |
2 | g.26480931T= | CA1239827826 | OTOF | c.1658A= (p.Gln553=) c.1703A= (p.Gln568=) | |
2 | g.26480932G>A | CA346133468 | OTOF | c.1657C>T (p.Gln553Ter) c.1702C>T (p.Gln568Ter) | |
2 | g.26480932G>C | CA346133470 | OTOF | c.1657C>G (p.Gln553Glu) c.1702C>G (p.Gln568Glu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26480932G= | CA1239827828 | OTOF | c.1657C= (p.Gln553=) c.1702C= (p.Gln568=) | |
2 | g.26480932G>T | CA346133472 | OTOF | c.1657C>A (p.Gln553Lys) c.1702C>A (p.Gln568Lys) | |
2 | g.26480933A>C | CA346133478 | OTOF | c.1656T>G (p.His552Gln) c.1701T>G (p.His567Gln) | |
2 | g.26480933A>G | CA425206091 | OTOF | c.1656T>C (p.His552=) c.1701T>C (p.His567=) | |
2 | g.26480933A>T | CA346133476 | OTOF | c.1656T>A (p.His552Gln) c.1701T>A (p.His567Gln) | |
2 | g.26480934T>A | CA346133481 | OTOF | c.1655A>T (p.His552Leu) c.1700A>T (p.His567Leu) | |
2 | g.26480934T>C | CA346133485 | OTOF | c.1655A>G (p.His552Arg) c.1700A>G (p.His567Arg) | |
2 | g.26480934T>G | CA346133483 | OTOF | c.1655A>C (p.His552Pro) c.1700A>C (p.His567Pro) | |
2 | g.26480935G>A | CA346133487 | OTOF | c.1654C>T (p.His552Tyr) c.1699C>T (p.His567Tyr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26480935G>C | CA346133489 | OTOF | c.1654C>G (p.His552Asp) c.1699C>G (p.His567Asp) | |
2 | g.26480935G= | CA1239827830 | OTOF | c.1654C= (p.His552=) c.1699C= (p.His567=) | |
2 | g.26480935G>T | CA346133488 | OTOF | c.1654C>A (p.His552Asn) c.1699C>A (p.His567Asn) | |
2 | g.26480936C>A | CA44401015 | OTOF | c.1653G>T (p.Glu551Asp) c.1698G>T (p.Glu566Asp) | dbSNP |
2 | g.26480936C= | CA1239827832 | OTOF | c.1653G= (p.Glu551=) c.1698G= (p.Glu566=) | |
2 | g.26480936C>G | CA346133490 | OTOF | c.1653G>C (p.Glu551Asp) c.1698G>C (p.Glu566Asp) | |
2 | g.26480936C>T | CA425206092 | OTOF | c.1653G>A (p.Glu551=) c.1698G>A (p.Glu566=) | ClinVar |
2 | g.26480937T>A | CA346133491 | OTOF | c.1652A>T (p.Glu551Val) c.1697A>T (p.Glu566Val) | |
2 | g.26480937T>C | CA346133492 | OTOF | c.1652A>G (p.Glu551Gly) c.1697A>G (p.Glu566Gly) | |
2 | g.26480937T>G | CA346133493 | OTOF | c.1652A>C (p.Glu551Ala) c.1697A>C (p.Glu566Ala) | |
2 | g.26480937_26480938delinsTC | CA1239827834 | OTOF | c.1651_1652delinsGA (p.Glu551=) c.1696_1697delinsGA (p.Glu566=) | |
2 | g.26480938del | CA342560 | OTOF | c.1651del (p.Glu551SerfsTer5) c.1696del (p.Glu566SerfsTer5) | ClinVar dbSNP |
2 | g.26480938C>A | CA346133494 | OTOF | c.1651G>T (p.Glu551Ter) c.1696G>T (p.Glu566Ter) | |
2 | g.26480938C= | CA1239827838 | OTOF | c.1651G= (p.Glu551=) c.1696G= (p.Glu566=) | |
2 | g.26480938C>G | CA346133495 | OTOF | c.1651G>C (p.Glu551Gln) c.1696G>C (p.Glu566Gln) | |
2 | g.26480938C>T | CA1564203 | OTOF | c.1651G>A (p.Glu551Lys) c.1696G>A (p.Glu566Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26480939A>C | CA346133496 | OTOF | c.1650T>G (p.Asp550Glu) c.1695T>G (p.Asp565Glu) | |
2 | g.26480939A>G | CA425206093 | OTOF | c.1650T>C (p.Asp550=) c.1695T>C (p.Asp565=) | dbSNP |
2 | g.26480939A>T | CA346133497 | OTOF | c.1650T>A (p.Asp550Glu) c.1695T>A (p.Asp565Glu) | |
2 | g.26480940T>A | CA346133500 | OTOF | c.1649A>T (p.Asp550Val) c.1694A>T (p.Asp565Val) | |
2 | g.26480940T>C | CA346133498 | OTOF | c.1649A>G (p.Asp550Gly) c.1694A>G (p.Asp565Gly) | |
2 | g.26480940T>G | CA346133499 | OTOF | c.1649A>C (p.Asp550Ala) c.1694A>C (p.Asp565Ala) | |
2 | g.26480941C>A | CA346133501 | OTOF | c.1648G>T (p.Asp550Tyr) c.1693G>T (p.Asp565Tyr) | |
2 | g.26480941C= | CA1239827842 | OTOF | c.1648G= (p.Asp550=) c.1693G= (p.Asp565=) | |
2 | g.26480941C>G | CA346133502 | OTOF | c.1648G>C (p.Asp550His) c.1693G>C (p.Asp565His) | |
2 | g.26480941C>T | CA346133503 | OTOF | c.1648G>A (p.Asp550Asn) c.1693G>A (p.Asp565Asn) | dbSNP |
2 | g.26480942C>A | CA425206095 | OTOF | c.1647G>T (p.Leu549=) c.1692G>T (p.Leu564=) | |
2 | g.26480942C= | CA1239827844 | OTOF | c.1647G= (p.Leu549=) c.1692G= (p.Leu564=) | |
2 | g.26480942C>G | CA425206094 | OTOF | c.1647G>C (p.Leu549=) c.1692G>C (p.Leu564=) | |
2 | g.26480942C>T | CA1564204 | OTOF | c.1647G>A (p.Leu549=) c.1692G>A (p.Leu564=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26480943A>C | CA346133504 | OTOF | c.1646T>G (p.Leu549Arg) c.1691T>G (p.Leu564Arg) | |
2 | g.26480943A>G | CA346133505 | OTOF | c.1646T>C (p.Leu549Pro) c.1691T>C (p.Leu564Pro) | gnomAD v4 |
2 | g.26480943A>T | CA346133506 | OTOF | c.1646T>A (p.Leu549Gln) c.1691T>A (p.Leu564Gln) | |
2 | g.26480944G>A | CA425206096 | OTOF | c.1645C>T (p.Leu549=) c.1690C>T (p.Leu564=) | |
2 | g.26480944G>C | CA346133507 | OTOF | c.1645C>G (p.Leu549Val) c.1690C>G (p.Leu564Val) | |
2 | g.26480944G= | CA1239827848 | OTOF | c.1645C= (p.Leu549=) c.1690C= (p.Leu564=) | |
2 | g.26480944G>T | CA346133508 | OTOF | c.1645C>A (p.Leu549Met) c.1690C>A (p.Leu564Met) | dbSNP gnomAD v2 |
2 | g.26480945C>A | CA425206097 | OTOF | c.1644G>T (p.Leu548=) c.1689G>T (p.Leu563=) | |
2 | g.26480945C= | CA1239827850 | OTOF | c.1644G= (p.Leu548=) c.1689G= (p.Leu563=) | |
2 | g.26480945C>G | CA425206098 | OTOF | c.1644G>C (p.Leu548=) c.1689G>C (p.Leu563=) | |
2 | g.26480945C>T | CA44401026 | OTOF | c.1644G>A (p.Leu548=) c.1689G>A (p.Leu563=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26480946A>C | CA346133513 | OTOF | c.1643T>G (p.Leu548Arg) c.1688T>G (p.Leu563Arg) | |
2 | g.26480946A>G | CA346133514 | OTOF | c.1643T>C (p.Leu548Pro) c.1688T>C (p.Leu563Pro) | |
2 | g.26480946A>T | CA346133511 | OTOF | c.1643T>A (p.Leu548Gln) c.1688T>A (p.Leu563Gln) | gnomAD v4 |
2 | g.26480947G>A | CA425206099 | OTOF | c.1642C>T (p.Leu548=) c.1687C>T (p.Leu563=) | gnomAD v4 |
2 | g.26480947G>C | CA346133521 | OTOF | c.1642C>G (p.Leu548Val) c.1687C>G (p.Leu563Val) | |
2 | g.26480947G= | CA1239827853 | OTOF | c.1642C= (p.Leu548=) c.1687C= (p.Leu563=) | |
2 | g.26480947G>T | CA346133522 | OTOF | c.1642C>A (p.Leu548Met) c.1687C>A (p.Leu563Met) | |
2 | g.26480948C>A | CA425206100 | OTOF | c.1641G>T (p.Thr547=) c.1686G>T (p.Thr562=) | ClinVar gnomAD v4 |
2 | g.26480948C= | CA1239827858 | OTOF | c.1641G= (p.Thr547=) c.1686G= (p.Thr562=) | |
2 | g.26480948C>G | CA1564205 | OTOF | c.1641G>C (p.Thr547=) c.1686G>C (p.Thr562=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26480948C>T | CA425206101 | OTOF | c.1641G>A (p.Thr547=) c.1686G>A (p.Thr562=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26480953_26480962dup | CA531762010 | OTOF | c.1632_1641dup (p.Leu548Ter) c.1677_1686dup (p.Leu563Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.26480949G>A | CA1564206 | OTOF | c.1640C>T (p.Thr547Met) c.1685C>T (p.Thr562Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26480949G>C | CA346133530 | OTOF | c.1640C>G (p.Thr547Arg) c.1685C>G (p.Thr562Arg) | |
2 | g.26480949G= | CA1239827863 | OTOF | c.1640C= (p.Thr547=) c.1685C= (p.Thr562=) | |
2 | g.26480949G>T | CA1564207 | OTOF | c.1640C>A (p.Thr547Lys) c.1685C>A (p.Thr562Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26480950T>A | CA346133540 | OTOF | c.1639A>T (p.Thr547Ser) c.1684A>T (p.Thr562Ser) | |
2 | g.26480950T>C | CA346133535 | OTOF | c.1639A>G (p.Thr547Ala) c.1684A>G (p.Thr562Ala) | gnomAD v4 |
2 | g.26480950T>G | CA346133537 | OTOF | c.1639A>C (p.Thr547Pro) c.1684A>C (p.Thr562Pro) | |
2 | g.26480951G>A | CA425206102 | OTOF | c.1638C>T (p.Tyr546=) c.1683C>T (p.Tyr561=) | gnomAD v4 |
2 | g.26480951G>C | CA346133543 | OTOF | c.1638C>G (p.Tyr546Ter) c.1683C>G (p.Tyr561Ter) | |
2 | g.26480951G>T | CA346133544 | OTOF | c.1638C>A (p.Tyr546Ter) c.1683C>A (p.Tyr561Ter) | |
2 | g.26480952T>A | CA346133545 | OTOF | c.1637A>T (p.Tyr546Phe) c.1682A>T (p.Tyr561Phe) | dbSNP |
2 | g.26480952T>C | CA346133546 | OTOF | c.1637A>G (p.Tyr546Cys) c.1682A>G (p.Tyr561Cys) | |
2 | g.26480952T>G | CA346133548 | OTOF | c.1637A>C (p.Tyr546Ser) c.1682A>C (p.Tyr561Ser) | |
2 | g.26480952T= | CA1239827865 | OTOF | c.1637A= (p.Tyr546=) c.1682A= (p.Tyr561=) | |
2 | g.26480953A>C | CA346133550 | OTOF | c.1636T>G (p.Tyr546Asp) c.1681T>G (p.Tyr561Asp) | |
2 | g.26480953A>G | CA346133555 | OTOF | c.1636T>C (p.Tyr546His) c.1681T>C (p.Tyr561His) | |
2 | g.26480953A>T | CA346133553 | OTOF | c.1636T>A (p.Tyr546Asn) c.1681T>A (p.Tyr561Asn) | |
2 | g.26480954G>A | CA425206103 | OTOF | c.1635C>T (p.Asn545=) c.1680C>T (p.Asn560=) | gnomAD v4 |
2 | g.26480954G>C | CA346133559 | OTOF | c.1635C>G (p.Asn545Lys) c.1680C>G (p.Asn560Lys) | |
2 | g.26480954G= | CA1239827868 | OTOF | c.1635C= (p.Asn545=) c.1680C= (p.Asn560=) | |
2 | g.26480954G>T | CA346133561 | OTOF | c.1635C>A (p.Asn545Lys) c.1680C>A (p.Asn560Lys) | dbSNP gnomAD v4 |
2 | g.26480954_26480956delinsGTT | CA1239827867 | OTOF | c.1633_1635delinsAAC (p.Asn545=) c.1678_1680delinsAAC (p.Asn560=) | |
2 | g.26480954_26480955insATCTCGGTGGTCGCCGTATCA | CA1028609645 | OTOF | c.1634_1635insTGATACGGCGACCACCGAGAT (p.Asn545_Tyr546insAspThrAlaThrThrGluIle) c.1679_1680insTGATACGGCGACCACCGAGAT (p.Asn560_Tyr561insAspThrAlaThrThrGluIle) | gnomAD v3 gnomAD v4 |
2 | g.26480955T>A | CA346133565 | OTOF | c.1634A>T (p.Asn545Ile) c.1679A>T (p.Asn560Ile) | |
2 | g.26480955T>C | CA346133567 | OTOF | c.1634A>G (p.Asn545Ser) c.1679A>G (p.Asn560Ser) | |
2 | g.26480955T>G | CA346133569 | OTOF | c.1634A>C (p.Asn545Thr) c.1679A>C (p.Asn560Thr) | |
2 | g.26480955_26480956del | CA531762011 | OTOF | c.1633_1634del (p.Asn545LeufsTer6) c.1678_1679del (p.Asn560LeufsTer6) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26480956T>A | CA346133573 | OTOF | c.1633A>T (p.Asn545Tyr) c.1678A>T (p.Asn560Tyr) | |
2 | g.26480956T>C | CA346133574 | OTOF | c.1633A>G (p.Asn545Asp) c.1678A>G (p.Asn560Asp) | |
2 | g.26480956T>G | CA346133576 | OTOF | c.1633A>C (p.Asn545His) c.1678A>C (p.Asn560His) | |
2 | g.26480957A>C | CA425206107 | OTOF | c.1632T>G (p.Arg544=) c.1677T>G (p.Arg559=) | |
2 | g.26480957A>G | CA425206108 | OTOF | c.1632T>C (p.Arg544=) c.1677T>C (p.Arg559=) | |
2 | g.26480957A>T | CA425206109 | OTOF | c.1632T>A (p.Arg544=) c.1677T>A (p.Arg559=) | ClinVar |
2 | g.26480957_26480958insAAAAA | CA1028609649 | OTOF | c.1632_1633insTTTTT (p.Asn545PhefsTer13) c.1677_1678insTTTTT (p.Asn560PhefsTer13) | gnomAD v3 gnomAD v4 |
2 | g.26480957_26480958insTCT | CA1028609659 | OTOF | c.1631_1632insAGA (p.Arg544_Asn545insAsp) c.1676_1677insAGA (p.Arg559_Asn560insAsp) | gnomAD v3 gnomAD v4 |
2 | g.26480958C>A | CA346133579 | OTOF | c.1631G>T (p.Arg544Leu) c.1676G>T (p.Arg559Leu) | |
2 | g.26480958C= | CA1239827870 | OTOF | c.1631G= (p.Arg544=) c.1676G= (p.Arg559=) | |
2 | g.26480958C>G | CA346133581 | OTOF | c.1631G>C (p.Arg544Pro) c.1676G>C (p.Arg559Pro) | gnomAD v4 |
2 | g.26480958C>T | CA1564208 | OTOF | c.1631G>A (p.Arg544His) c.1676G>A (p.Arg559His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26480959G>A | CA142756 | OTOF | c.1630C>T (p.Arg544Cys) c.1675C>T (p.Arg559Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26480959G>C | CA346133587 | OTOF | c.1630C>G (p.Arg544Gly) c.1675C>G (p.Arg559Gly) | |
2 | g.26480959G= | CA1239827872 | OTOF | c.1630C= (p.Arg544=) c.1675C= (p.Arg559=) | |
2 | g.26480959G>T | CA346133585 | OTOF | c.1630C>A (p.Arg544Ser) c.1675C>A (p.Arg559Ser) | gnomAD v4 |
2 | g.26480960del | CA1028609673 | OTOF | c.1629del (p.Arg544ValfsTer12) c.1674del (p.Arg559ValfsTer12) | gnomAD v3 gnomAD v4 |
2 | g.26480960T>A | CA425206114 | OTOF | c.1629A>T (p.Thr543=) c.1674A>T (p.Thr558=) | |
2 | g.26480960T>C | CA425206115 | OTOF | c.1629A>G (p.Thr543=) c.1674A>G (p.Thr558=) | gnomAD v4 |
2 | g.26480960T>G | CA425206116 | OTOF | c.1629A>C (p.Thr543=) c.1674A>C (p.Thr558=) | |
2 | g.26480961G>A | CA346133590 | OTOF | c.1628C>T (p.Thr543Ile) c.1673C>T (p.Thr558Ile) | |
2 | g.26480961G>C | CA346133596 | OTOF | c.1628C>G (p.Thr543Arg) c.1673C>G (p.Thr558Arg) | gnomAD v4 |
2 | g.26480961G= | CA1239827876 | OTOF | c.1628C= (p.Thr543=) c.1673C= (p.Thr558=) | |
2 | g.26480961G>T | CA1564209 | OTOF | c.1628C>A (p.Thr543Lys) c.1673C>A (p.Thr558Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26480962T>A | CA346133602 | OTOF | c.1627A>T (p.Thr543Ser) c.1672A>T (p.Thr558Ser) | |
2 | g.26480962T>C | CA346133604 | OTOF | c.1627A>G (p.Thr543Ala) c.1672A>G (p.Thr558Ala) | |
2 | g.26480962T>G | CA346133606 | OTOF | c.1627A>C (p.Thr543Pro) c.1672A>C (p.Thr558Pro) | |
2 | g.26480963G>A | CA425206123 | OTOF | c.1626C>T (p.Ser542=) c.1671C>T (p.Ser557=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26480963G>C | CA425206124 | OTOF | c.1626C>G (p.Ser542=) c.1671C>G (p.Ser557=) | |
2 | g.26480963G= | CA1239827878 | OTOF | c.1626C= (p.Ser542=) c.1671C= (p.Ser557=) | |
2 | g.26480963G>T | CA425206122 | OTOF | c.1626C>A (p.Ser542=) c.1671C>A (p.Ser557=) | |
2 | g.26480964G>A | CA346133615 | OTOF | c.1625C>T (p.Ser542Phe) c.1670C>T (p.Ser557Phe) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26480964G>C | CA346133612 | OTOF | c.1625C>G (p.Ser542Cys) c.1670C>G (p.Ser557Cys) | gnomAD v4 |
2 | g.26480964G= | CA1239827880 | OTOF | c.1625C= (p.Ser542=) c.1670C= (p.Ser557=) | |
2 | g.26480964G>T | CA346133610 | OTOF | c.1625C>A (p.Ser542Tyr) c.1670C>A (p.Ser557Tyr) | |
2 | g.26480964_26480965insT | CA1028609677 | OTOF | c.1624_1625insA (p.Ser542TyrfsTer4) c.1669_1670insA (p.Ser557TyrfsTer4) | gnomAD v3 gnomAD v4 |
2 | g.26480965A>C | CA346133619 | OTOF | c.1624T>G (p.Ser542Ala) c.1669T>G (p.Ser557Ala) | gnomAD v3 gnomAD v4 |
2 | g.26480965A>G | CA346133621 | OTOF | c.1624T>C (p.Ser542Pro) c.1669T>C (p.Ser557Pro) | |
2 | g.26480965A>T | CA346133623 | OTOF | c.1624T>A (p.Ser542Thr) c.1669T>A (p.Ser557Thr) | |
2 | g.26480966G>A | CA425206130 | OTOF | c.1623C>T (p.Gly541=) c.1668C>T (p.Gly556=) | dbSNP |
2 | g.26480966G>C | CA425206131 | OTOF | c.1623C>G (p.Gly541=) c.1668C>G (p.Gly556=) | |
2 | g.26480966G= | CA1239827882 | OTOF | c.1623C= (p.Gly541=) c.1668C= (p.Gly556=) | |
2 | g.26480966G>T | CA425206132 | OTOF | c.1623C>A (p.Gly541=) c.1668C>A (p.Gly556=) | |
2 | g.26480967C>A | CA346133625 | OTOF | c.1622G>T (p.Gly541Val) c.1667G>T (p.Gly556Val) | |
2 | g.26480967C= | CA1239827884 | OTOF | c.1622G= (p.Gly541=) c.1667G= (p.Gly556=) | |
2 | g.26480967C>G | CA346133629 | OTOF | c.1622G>C (p.Gly541Ala) c.1667G>C (p.Gly556Ala) | |
2 | g.26480967C>T | CA346133631 | OTOF | c.1622G>A (p.Gly541Asp) c.1667G>A (p.Gly556Asp) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26480968C>A | CA346133634 | OTOF | c.1621G>T (p.Gly541Cys) c.1666G>T (p.Gly556Cys) | |
2 | g.26480968C= | CA1239827886 | OTOF | c.1621G= (p.Gly541=) c.1666G= (p.Gly556=) | |
2 | g.26480968C>G | CA346133636 | OTOF | c.1621G>C (p.Gly541Arg) c.1666G>C (p.Gly556Arg) | |
2 | g.26480968C>T | CA261250 | OTOF | c.1621G>A (p.Gly541Ser) c.1666G>A (p.Gly556Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26480969G>A | CA1564210 | OTOF | c.1620C>T (p.Tyr540=) c.1665C>T (p.Tyr555=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26480969G>C | CA346133646 | OTOF | c.1620C>G (p.Tyr540Ter) c.1665C>G (p.Tyr555Ter) | |
2 | g.26480969G= | CA1239827891 | OTOF | c.1620C= (p.Tyr540=) c.1665C= (p.Tyr555=) | |
2 | g.26480969G>T | CA346133650 | OTOF | c.1620C>A (p.Tyr540Ter) c.1665C>A (p.Tyr555Ter) | |
2 | g.26480970T>A | CA346133658 | OTOF | c.1619A>T (p.Tyr540Phe) c.1664A>T (p.Tyr555Phe) | |
2 | g.26480970T>C | CA346133661 | OTOF | c.1619A>G (p.Tyr540Cys) c.1664A>G (p.Tyr555Cys) | |
2 | g.26480970T>G | CA346133665 | OTOF | c.1619A>C (p.Tyr540Ser) c.1664A>C (p.Tyr555Ser) | |
2 | g.26480971A= | CA1239827893 | OTOF | c.1618T= (p.Tyr540=) c.1663T= (p.Tyr555=) | |
2 | g.26480971A>C | CA346133669 | OTOF | c.1618T>G (p.Tyr540Asp) c.1663T>G (p.Tyr555Asp) | |
2 | g.26480971A>G | CA346133672 | OTOF | c.1618T>C (p.Tyr540His) c.1663T>C (p.Tyr555His) | |
2 | g.26480971A>T | CA346133675 | OTOF | c.1618T>A (p.Tyr540Asn) c.1663T>A (p.Tyr555Asn) | dbSNP |
2 | g.26480971_26480972insT | CA1028609680 | OTOF | c.1617_1618insA (p.Tyr540IlefsTer6) c.1662_1663insA (p.Tyr555IlefsTer6) | gnomAD v3 gnomAD v4 |
2 | g.26480972C>A | CA346133678 | OTOF | c.1617G>T (p.Met539Ile) c.1662G>T (p.Met554Ile) | |
2 | g.26480972C>G | CA346133681 | OTOF | c.1617G>C (p.Met539Ile) c.1662G>C (p.Met554Ile) | gnomAD v4 |
2 | g.26480972C>T | CA346133683 | OTOF | c.1617G>A (p.Met539Ile) c.1662G>A (p.Met554Ile) | gnomAD v4 |
2 | g.26480973A= | CA1239827895 | OTOF | c.1616T= (p.Met539=) c.1661T= (p.Met554=) | |
2 | g.26480973A>C | CA346133687 | OTOF | c.1616T>G (p.Met539Arg) c.1661T>G (p.Met554Arg) | |
2 | g.26480973A>G | CA1564211 | OTOF | c.1616T>C (p.Met539Thr) c.1661T>C (p.Met554Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26480973A>T | CA346133688 | OTOF | c.1616T>A (p.Met539Lys) c.1661T>A (p.Met554Lys) | |
2 | g.26480974T>A | CA346133690 | OTOF | c.1615A>T (p.Met539Leu) c.1660A>T (p.Met554Leu) | |
2 | g.26480974T>C | CA346133691 | OTOF | c.1615A>G (p.Met539Val) c.1660A>G (p.Met554Val) | dbSNP gnomAD v4 |
2 | g.26480974T>G | CA346133694 | OTOF | c.1615A>C (p.Met539Leu) c.1660A>C (p.Met554Leu) | |
2 | g.26480974T= | CA1239827898 | OTOF | c.1615A= (p.Met539=) c.1660A= (p.Met554=) | |
2 | g.26480975_26480976del | CA1028609685 | OTOF | c.1614_1615del (p.Met539ValfsTer6) c.1659_1660del (p.Met554ValfsTer6) | gnomAD v3 gnomAD v4 |
2 | g.26480975G>A | CA425206149 | OTOF | c.1614C>T (p.Asn538=) c.1659C>T (p.Asn553=) | |
2 | g.26480975G>C | CA346133697 | OTOF | c.1614C>G (p.Asn538Lys) c.1659C>G (p.Asn553Lys) | |
2 | g.26480975G= | CA1239827902 | OTOF | c.1614C= (p.Asn538=) c.1659C= (p.Asn553=) | |
2 | g.26480975G>T | CA142754 | OTOF | c.1614C>A (p.Asn538Lys) c.1659C>A (p.Asn553Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26480976T>A | CA346133702 | OTOF | c.1613A>T (p.Asn538Ile) c.1658A>T (p.Asn553Ile) | |
2 | g.26480976T>C | CA1564212 | OTOF | c.1613A>G (p.Asn538Ser) c.1658A>G (p.Asn553Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26480976T>G | CA346133709 | OTOF | c.1613A>C (p.Asn538Thr) c.1658A>C (p.Asn553Thr) | |
2 | g.26480976T= | CA1239827907 | OTOF | c.1613A= (p.Asn538=) c.1658A= (p.Asn553=) | |
2 | g.26480977T>A | CA346133711 | OTOF | c.1612A>T (p.Asn538Tyr) c.1657A>T (p.Asn553Tyr) | |
2 | g.26480977T>C | CA346133715 | OTOF | c.1612A>G (p.Asn538Asp) c.1657A>G (p.Asn553Asp) | |
2 | g.26480977T>G | CA346133718 | OTOF | c.1612A>C (p.Asn538His) c.1657A>C (p.Asn553His) | |
2 | g.26480978C>A | CA425206155 | OTOF | c.1611G>T (p.Val537=) c.1656G>T (p.Val552=) | gnomAD v3 gnomAD v4 |
2 | g.26480978C>G | CA425206156 | OTOF | c.1611G>C (p.Val537=) c.1656G>C (p.Val552=) | |
2 | g.26480978C>T | CA425206157 | OTOF | c.1611G>A (p.Val537=) c.1656G>A (p.Val552=) | |
2 | g.26480979A>C | CA346133732 | OTOF | c.1610T>G (p.Val537Gly) c.1655T>G (p.Val552Gly) | |
2 | g.26480979A>G | CA346133729 | OTOF | c.1610T>C (p.Val537Ala) c.1655T>C (p.Val552Ala) | gnomAD v4 |
2 | g.26480979A>T | CA346133725 | OTOF | c.1610T>A (p.Val537Glu) c.1655T>A (p.Val552Glu) | |
2 | g.26480979_26480980delinsAC | CA1239827909 | OTOF | c.1609_1610delinsGT (p.Val537=) c.1654_1655delinsGT (p.Val552=) | |
2 | g.26480980C>A | CA346133737 | OTOF | c.1609G>T (p.Val537Leu) c.1654G>T (p.Val552Leu) | gnomAD v3 gnomAD v4 |
2 | g.26480980C= | CA1239827912 | OTOF | c.1609G= (p.Val537=) c.1654G= (p.Val552=) | |
2 | g.26480980C>G | CA346133740 | OTOF | c.1609G>C (p.Val537Leu) c.1654G>C (p.Val552Leu) | |
2 | g.26480980C>T | CA346133744 | OTOF | c.1609G>A (p.Val537Met) c.1654G>A (p.Val552Met) | dbSNP |
2 | g.26480982del | CA345092 | OTOF | c.1609del (p.Val537Ter) c.1654del (p.Val552Ter) | ClinVar dbSNP |
2 | g.26480981C>A | CA346133749 | OTOF | c.1608G>T (p.Trp536Cys) c.1653G>T (p.Trp551Cys) | gnomAD v3 gnomAD v4 |
2 | g.26480981C>G | CA346133753 | OTOF | c.1608G>C (p.Trp536Cys) c.1653G>C (p.Trp551Cys) | gnomAD v4 |
2 | g.26480981C>T | CA346133756 | OTOF | c.1608G>A (p.Trp536Ter) c.1653G>A (p.Trp551Ter) | gnomAD v4 |
2 | g.26480982C>A | CA346133759 | OTOF | c.1607G>T (p.Trp536Leu) c.1652G>T (p.Trp551Leu) | gnomAD v3 gnomAD v4 |
2 | g.26480982C= | CA1239827914 | OTOF | c.1607G= (p.Trp536=) c.1652G= (p.Trp551=) | |
2 | g.26480982C>G | CA1564213 | OTOF | c.1607G>C (p.Trp536Ser) c.1652G>C (p.Trp551Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26480982C>T | CA345090 | OTOF | c.1607G>A (p.Trp536Ter) c.1652G>A (p.Trp551Ter) | ClinVar dbSNP gnomAD v4 |
2 | g.26480983A>C | CA346133783 | OTOF | c.1606T>G (p.Trp536Gly) c.1651T>G (p.Trp551Gly) | |
2 | g.26480983A>G | CA346133787 | OTOF | c.1606T>C (p.Trp536Arg) c.1651T>C (p.Trp551Arg) | gnomAD v4 |
2 | g.26480983A>T | CA346133790 | OTOF | c.1606T>A (p.Trp536Arg) c.1651T>A (p.Trp551Arg) | |
2 | g.26480984G>A | CA425206170 | OTOF | c.1605C>T (p.Ala535=) c.1650C>T (p.Ala550=) | |
2 | g.26480984G>C | CA425206171 | OTOF | c.1605C>G (p.Ala535=) c.1650C>G (p.Ala550=) | dbSNP gnomAD v4 |
2 | g.26480984G= | CA1239827916 | OTOF | c.1605C= (p.Ala535=) c.1650C= (p.Ala550=) | |
2 | g.26480984G>T | CA425206172 | OTOF | c.1605C>A (p.Ala535=) c.1650C>A (p.Ala550=) | |
2 | g.26480985G>A | CA346133796 | OTOF | c.1604C>T (p.Ala535Val) c.1649C>T (p.Ala550Val) | gnomAD v4 |
2 | g.26480985G>C | CA346133799 | OTOF | c.1604C>G (p.Ala535Gly) c.1649C>G (p.Ala550Gly) | |
2 | g.26480985G>T | CA346133793 | OTOF | c.1604C>A (p.Ala535Asp) c.1649C>A (p.Ala550Asp) | |
2 | g.26480986C>A | CA346133801 | OTOF | c.1603G>T (p.Ala535Ser) c.1648G>T (p.Ala550Ser) | |
2 | g.26480986C>G | CA346133800 | OTOF | c.1603G>C (p.Ala535Pro) c.1648G>C (p.Ala550Pro) | |
2 | g.26480986C>T | CA346133803 | OTOF | c.1603G>A (p.Ala535Thr) c.1648G>A (p.Ala550Thr) | |
2 | g.26480987T>A | CA425206179 | OTOF | c.1602A>T (p.Pro534=) c.1647A>T (p.Pro549=) | |
2 | g.26480987T>C | CA425206180 | OTOF | c.1602A>G (p.Pro534=) c.1647A>G (p.Pro549=) | |
2 | g.26480987T>G | CA425206181 | OTOF | c.1602A>C (p.Pro534=) c.1647A>C (p.Pro549=) | |
2 | g.26480987_26480988delinsTG | CA1239827918 | OTOF | c.1601_1602delinsCA (p.Pro534=) c.1646_1647delinsCA (p.Pro549=) | |
2 | g.26480988G>A | CA346133808 | OTOF | c.1601C>T (p.Pro534Leu) c.1646C>T (p.Pro549Leu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26480988G>C | CA346133812 | OTOF | c.1601C>G (p.Pro534Arg) c.1646C>G (p.Pro549Arg) | gnomAD v4 |
2 | g.26480988G= | CA1239827920 | OTOF | c.1601C= (p.Pro534=) c.1646C= (p.Pro549=) | |
2 | g.26480988G>T | CA346133815 | OTOF | c.1601C>A (p.Pro534Gln) c.1646C>A (p.Pro549Gln) | |
2 | g.26480990del | CA345089 | OTOF | c.1601del (p.Pro534GlnfsTer4) c.1646del (p.Pro549GlnfsTer4) | ClinVar dbSNP gnomAD v4 |
2 | g.26480989G>A | CA346133819 | OTOF | c.1600C>T (p.Pro534Ser) c.1645C>T (p.Pro549Ser) | gnomAD v4 |
2 | g.26480989G>C | CA346133821 | OTOF | c.1600C>G (p.Pro534Ala) c.1645C>G (p.Pro549Ala) | |
2 | g.26480989G>T | CA346133823 | OTOF | c.1600C>A (p.Pro534Thr) c.1645C>A (p.Pro549Thr) | |
2 | g.26480990G>A | CA44401064 | OTOF | c.1599C>T (p.Gly533=) c.1644C>T (p.Gly548=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.26480990G>C | CA425206188 | OTOF | c.1599C>G (p.Gly533=) c.1644C>G (p.Gly548=) | |
2 | g.26480990G= | CA1239827922 | OTOF | c.1599C= (p.Gly533=) c.1644C= (p.Gly548=) | |
2 | g.26480990G>T | CA425206189 | OTOF | c.1599C>A (p.Gly533=) c.1644C>A (p.Gly548=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26480991C>A | CA346133828 | OTOF | c.1598G>T (p.Gly533Val) c.1643G>T (p.Gly548Val) | |
2 | g.26480991C= | CA1239827924 | OTOF | c.1598G= (p.Gly533=) c.1643G= (p.Gly548=) | |
2 | g.26480991C>G | CA346133830 | OTOF | c.1598G>C (p.Gly533Ala) c.1643G>C (p.Gly548Ala) | |
2 | g.26480991C>T | CA346133832 | OTOF | c.1598G>A (p.Gly533Asp) c.1643G>A (p.Gly548Asp) | dbSNP COSMIC |
2 | g.26480992C>A | CA346133835 | OTOF | c.1597G>T (p.Gly533Cys) c.1642G>T (p.Gly548Cys) | |
2 | g.26480992C>G | CA346133837 | OTOF | c.1597G>C (p.Gly533Arg) c.1642G>C (p.Gly548Arg) | |
2 | g.26480992C>T | CA346133839 | OTOF | c.1597G>A (p.Gly533Ser) c.1642G>A (p.Gly548Ser) | |
2 | g.26480993C>A | CA425206196 | OTOF | c.1596G>T (p.Leu532=) c.1641G>T (p.Leu547=) | |
2 | g.26480993C>G | CA425206195 | OTOF | c.1596G>C (p.Leu532=) c.1641G>C (p.Leu547=) | |
2 | g.26480993C>T | CA425206194 | OTOF | c.1596G>A (p.Leu532=) c.1641G>A (p.Leu547=) | gnomAD v4 |
2 | g.26480994A>C | CA346133846 | OTOF | c.1595T>G (p.Leu532Arg) c.1640T>G (p.Leu547Arg) | |
2 | g.26480994A>G | CA346133842 | OTOF | c.1595T>C (p.Leu532Pro) c.1640T>C (p.Leu547Pro) | |
2 | g.26480994A>T | CA346133843 | OTOF | c.1595T>A (p.Leu532Gln) c.1640T>A (p.Leu547Gln) | |
2 | g.26480994_26480996delinsAGT | CA1239827925 | OTOF | c.1593_1595delinsACT (p.Thr531=) c.1638_1640delinsACT (p.Thr546=) |