Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.26480953_26480962dupCA531762010OTOFc.1632_1641dup (p.Leu548Ter)
c.1677_1686dup (p.Leu563Ter)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.26480962T>ACA346133602OTOFc.1627A>T (p.Thr543Ser)
c.1672A>T (p.Thr558Ser)
2g.26480962T>CCA346133604OTOFc.1627A>G (p.Thr543Ala)
c.1672A>G (p.Thr558Ala)
2g.26480962T>GCA346133606OTOFc.1627A>C (p.Thr543Pro)
c.1672A>C (p.Thr558Pro)
2g.26480963G>ACA425206123OTOFc.1626C>T (p.Ser542=)
c.1671C>T (p.Ser557=)
dbSNP gnomAD v3 gnomAD v4
2g.26480963G>CCA425206124OTOFc.1626C>G (p.Ser542=)
c.1671C>G (p.Ser557=)
2g.26480963G=CA1239827878OTOFc.1626C= (p.Ser542=)
c.1671C= (p.Ser557=)
2g.26480963G>TCA425206122OTOFc.1626C>A (p.Ser542=)
c.1671C>A (p.Ser557=)
2g.26480964G>ACA346133615OTOFc.1625C>T (p.Ser542Phe)
c.1670C>T (p.Ser557Phe)
dbSNP gnomAD v2 gnomAD v4
2g.26480964G>CCA346133612OTOFc.1625C>G (p.Ser542Cys)
c.1670C>G (p.Ser557Cys)
gnomAD v4
2g.26480964G=CA1239827880OTOFc.1625C= (p.Ser542=)
c.1670C= (p.Ser557=)
2g.26480964G>TCA346133610OTOFc.1625C>A (p.Ser542Tyr)
c.1670C>A (p.Ser557Tyr)
2g.26480964_26480965insTCA1028609677OTOFc.1624_1625insA (p.Ser542TyrfsTer4)
c.1669_1670insA (p.Ser557TyrfsTer4)
gnomAD v3 gnomAD v4
2g.26480965A>CCA346133619OTOFc.1624T>G (p.Ser542Ala)
c.1669T>G (p.Ser557Ala)
gnomAD v3 gnomAD v4
2g.26480965A>GCA346133621OTOFc.1624T>C (p.Ser542Pro)
c.1669T>C (p.Ser557Pro)
2g.26480965A>TCA346133623OTOFc.1624T>A (p.Ser542Thr)
c.1669T>A (p.Ser557Thr)
2g.26480966G>ACA425206130OTOFc.1623C>T (p.Gly541=)
c.1668C>T (p.Gly556=)
dbSNP
2g.26480966G>CCA425206131OTOFc.1623C>G (p.Gly541=)
c.1668C>G (p.Gly556=)
2g.26480966G=CA1239827882OTOFc.1623C= (p.Gly541=)
c.1668C= (p.Gly556=)
2g.26480966G>TCA425206132OTOFc.1623C>A (p.Gly541=)
c.1668C>A (p.Gly556=)
2g.26480967C>ACA346133625OTOFc.1622G>T (p.Gly541Val)
c.1667G>T (p.Gly556Val)
2g.26480967C=CA1239827884OTOFc.1622G= (p.Gly541=)
c.1667G= (p.Gly556=)
2g.26480967C>GCA346133629OTOFc.1622G>C (p.Gly541Ala)
c.1667G>C (p.Gly556Ala)
2g.26480967C>TCA346133631OTOFc.1622G>A (p.Gly541Asp)
c.1667G>A (p.Gly556Asp)
dbSNP gnomAD v2 gnomAD v4
2g.26480968C>ACA346133634OTOFc.1621G>T (p.Gly541Cys)
c.1666G>T (p.Gly556Cys)
2g.26480968C=CA1239827886OTOFc.1621G= (p.Gly541=)
c.1666G= (p.Gly556=)
2g.26480968C>GCA346133636OTOFc.1621G>C (p.Gly541Arg)
c.1666G>C (p.Gly556Arg)
2g.26480968C>TCA261250OTOFc.1621G>A (p.Gly541Ser)
c.1666G>A (p.Gly556Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.26480969G>ACA1564210OTOFc.1620C>T (p.Tyr540=)
c.1665C>T (p.Tyr555=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26480969G>CCA346133646OTOFc.1620C>G (p.Tyr540Ter)
c.1665C>G (p.Tyr555Ter)
2g.26480969G=CA1239827891OTOFc.1620C= (p.Tyr540=)
c.1665C= (p.Tyr555=)
2g.26480969G>TCA346133650OTOFc.1620C>A (p.Tyr540Ter)
c.1665C>A (p.Tyr555Ter)
2g.26480970T>ACA346133658OTOFc.1619A>T (p.Tyr540Phe)
c.1664A>T (p.Tyr555Phe)
2g.26480970T>CCA346133661OTOFc.1619A>G (p.Tyr540Cys)
c.1664A>G (p.Tyr555Cys)
2g.26480970T>GCA346133665OTOFc.1619A>C (p.Tyr540Ser)
c.1664A>C (p.Tyr555Ser)
2g.26480971A=CA1239827893OTOFc.1618T= (p.Tyr540=)
c.1663T= (p.Tyr555=)
2g.26480971A>CCA346133669OTOFc.1618T>G (p.Tyr540Asp)
c.1663T>G (p.Tyr555Asp)
2g.26480971A>GCA346133672OTOFc.1618T>C (p.Tyr540His)
c.1663T>C (p.Tyr555His)
2g.26480971A>TCA346133675OTOFc.1618T>A (p.Tyr540Asn)
c.1663T>A (p.Tyr555Asn)
dbSNP
2g.26480971_26480972insTCA1028609680OTOFc.1617_1618insA (p.Tyr540IlefsTer6)
c.1662_1663insA (p.Tyr555IlefsTer6)
gnomAD v3 gnomAD v4
2g.26480972C>ACA346133678OTOFc.1617G>T (p.Met539Ile)
c.1662G>T (p.Met554Ile)
2g.26480972C>GCA346133681OTOFc.1617G>C (p.Met539Ile)
c.1662G>C (p.Met554Ile)
gnomAD v4
2g.26480972C>TCA346133683OTOFc.1617G>A (p.Met539Ile)
c.1662G>A (p.Met554Ile)
gnomAD v4
2g.26480973A=CA1239827895OTOFc.1616T= (p.Met539=)
c.1661T= (p.Met554=)
2g.26480973A>CCA346133687OTOFc.1616T>G (p.Met539Arg)
c.1661T>G (p.Met554Arg)
2g.26480973A>GCA1564211OTOFc.1616T>C (p.Met539Thr)
c.1661T>C (p.Met554Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.26480973A>TCA346133688OTOFc.1616T>A (p.Met539Lys)
c.1661T>A (p.Met554Lys)
2g.26480974T>ACA346133690OTOFc.1615A>T (p.Met539Leu)
c.1660A>T (p.Met554Leu)
2g.26480974T>CCA346133691OTOFc.1615A>G (p.Met539Val)
c.1660A>G (p.Met554Val)
dbSNP gnomAD v4
2g.26480974T>GCA346133694OTOFc.1615A>C (p.Met539Leu)
c.1660A>C (p.Met554Leu)
2g.26480974T=CA1239827898OTOFc.1615A= (p.Met539=)
c.1660A= (p.Met554=)
2g.26480975_26480976delCA1028609685OTOFc.1614_1615del (p.Met539ValfsTer6)
c.1659_1660del (p.Met554ValfsTer6)
gnomAD v3 gnomAD v4
2g.26480975G>ACA425206149OTOFc.1614C>T (p.Asn538=)
c.1659C>T (p.Asn553=)
2g.26480975G>CCA346133697OTOFc.1614C>G (p.Asn538Lys)
c.1659C>G (p.Asn553Lys)
2g.26480975G=CA1239827902OTOFc.1614C= (p.Asn538=)
c.1659C= (p.Asn553=)
2g.26480975G>TCA142754OTOFc.1614C>A (p.Asn538Lys)
c.1659C>A (p.Asn553Lys)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26480976T>ACA346133702OTOFc.1613A>T (p.Asn538Ile)
c.1658A>T (p.Asn553Ile)
2g.26480976T>CCA1564212OTOFc.1613A>G (p.Asn538Ser)
c.1658A>G (p.Asn553Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.26480976T>GCA346133709OTOFc.1613A>C (p.Asn538Thr)
c.1658A>C (p.Asn553Thr)
2g.26480976T=CA1239827907OTOFc.1613A= (p.Asn538=)
c.1658A= (p.Asn553=)
2g.26480977T>ACA346133711OTOFc.1612A>T (p.Asn538Tyr)
c.1657A>T (p.Asn553Tyr)
2g.26480977T>CCA346133715OTOFc.1612A>G (p.Asn538Asp)
c.1657A>G (p.Asn553Asp)
2g.26480977T>GCA346133718OTOFc.1612A>C (p.Asn538His)
c.1657A>C (p.Asn553His)
2g.26480978C>ACA425206155OTOFc.1611G>T (p.Val537=)
c.1656G>T (p.Val552=)
gnomAD v3 gnomAD v4
2g.26480978C>GCA425206156OTOFc.1611G>C (p.Val537=)
c.1656G>C (p.Val552=)
2g.26480978C>TCA425206157OTOFc.1611G>A (p.Val537=)
c.1656G>A (p.Val552=)
2g.26480979A>CCA346133732OTOFc.1610T>G (p.Val537Gly)
c.1655T>G (p.Val552Gly)
2g.26480979A>GCA346133729OTOFc.1610T>C (p.Val537Ala)
c.1655T>C (p.Val552Ala)
gnomAD v4
2g.26480979A>TCA346133725OTOFc.1610T>A (p.Val537Glu)
c.1655T>A (p.Val552Glu)
2g.26480979_26480980delinsACCA1239827909OTOFc.1609_1610delinsGT (p.Val537=)
c.1654_1655delinsGT (p.Val552=)
2g.26480980C>ACA346133737OTOFc.1609G>T (p.Val537Leu)
c.1654G>T (p.Val552Leu)
gnomAD v3 gnomAD v4
2g.26480980C=CA1239827912OTOFc.1609G= (p.Val537=)
c.1654G= (p.Val552=)
2g.26480980C>GCA346133740OTOFc.1609G>C (p.Val537Leu)
c.1654G>C (p.Val552Leu)
2g.26480980C>TCA346133744OTOFc.1609G>A (p.Val537Met)
c.1654G>A (p.Val552Met)
dbSNP
2g.26480982delCA345092OTOFc.1609del (p.Val537Ter)
c.1654del (p.Val552Ter)
ClinVar dbSNP
2g.26480981C>ACA346133749OTOFc.1608G>T (p.Trp536Cys)
c.1653G>T (p.Trp551Cys)
gnomAD v3 gnomAD v4
2g.26480981C>GCA346133753OTOFc.1608G>C (p.Trp536Cys)
c.1653G>C (p.Trp551Cys)
gnomAD v4
2g.26480981C>TCA346133756OTOFc.1608G>A (p.Trp536Ter)
c.1653G>A (p.Trp551Ter)
gnomAD v4
2g.26480982C>ACA346133759OTOFc.1607G>T (p.Trp536Leu)
c.1652G>T (p.Trp551Leu)
gnomAD v3 gnomAD v4
2g.26480982C=CA1239827914OTOFc.1607G= (p.Trp536=)
c.1652G= (p.Trp551=)
2g.26480982C>GCA1564213OTOFc.1607G>C (p.Trp536Ser)
c.1652G>C (p.Trp551Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.26480982C>TCA345090OTOFc.1607G>A (p.Trp536Ter)
c.1652G>A (p.Trp551Ter)
ClinVar dbSNP gnomAD v4
2g.26480983A>CCA346133783OTOFc.1606T>G (p.Trp536Gly)
c.1651T>G (p.Trp551Gly)
2g.26480983A>GCA346133787OTOFc.1606T>C (p.Trp536Arg)
c.1651T>C (p.Trp551Arg)
gnomAD v4
2g.26480983A>TCA346133790OTOFc.1606T>A (p.Trp536Arg)
c.1651T>A (p.Trp551Arg)
2g.26480984G>ACA425206170OTOFc.1605C>T (p.Ala535=)
c.1650C>T (p.Ala550=)
2g.26480984G>CCA425206171OTOFc.1605C>G (p.Ala535=)
c.1650C>G (p.Ala550=)
dbSNP gnomAD v4
2g.26480984G=CA1239827916OTOFc.1605C= (p.Ala535=)
c.1650C= (p.Ala550=)
2g.26480984G>TCA425206172OTOFc.1605C>A (p.Ala535=)
c.1650C>A (p.Ala550=)
2g.26480985G>ACA346133796OTOFc.1604C>T (p.Ala535Val)
c.1649C>T (p.Ala550Val)
gnomAD v4
2g.26480985G>CCA346133799OTOFc.1604C>G (p.Ala535Gly)
c.1649C>G (p.Ala550Gly)
2g.26480985G>TCA346133793OTOFc.1604C>A (p.Ala535Asp)
c.1649C>A (p.Ala550Asp)
2g.26480986C>ACA346133801OTOFc.1603G>T (p.Ala535Ser)
c.1648G>T (p.Ala550Ser)
2g.26480986C>GCA346133800OTOFc.1603G>C (p.Ala535Pro)
c.1648G>C (p.Ala550Pro)
2g.26480986C>TCA346133803OTOFc.1603G>A (p.Ala535Thr)
c.1648G>A (p.Ala550Thr)
2g.26480987T>ACA425206179OTOFc.1602A>T (p.Pro534=)
c.1647A>T (p.Pro549=)
2g.26480987T>CCA425206180OTOFc.1602A>G (p.Pro534=)
c.1647A>G (p.Pro549=)
2g.26480987T>GCA425206181OTOFc.1602A>C (p.Pro534=)
c.1647A>C (p.Pro549=)
2g.26480987_26480988delinsTGCA1239827918OTOFc.1601_1602delinsCA (p.Pro534=)
c.1646_1647delinsCA (p.Pro549=)
2g.26480988G>ACA346133808OTOFc.1601C>T (p.Pro534Leu)
c.1646C>T (p.Pro549Leu)
dbSNP gnomAD v2 gnomAD v4
2g.26480988G>CCA346133812OTOFc.1601C>G (p.Pro534Arg)
c.1646C>G (p.Pro549Arg)
gnomAD v4
2g.26480988G=CA1239827920OTOFc.1601C= (p.Pro534=)
c.1646C= (p.Pro549=)
2g.26480988G>TCA346133815OTOFc.1601C>A (p.Pro534Gln)
c.1646C>A (p.Pro549Gln)
2g.26480990delCA345089OTOFc.1601del (p.Pro534GlnfsTer4)
c.1646del (p.Pro549GlnfsTer4)
ClinVar dbSNP gnomAD v4
2g.26480989G>ACA346133819OTOFc.1600C>T (p.Pro534Ser)
c.1645C>T (p.Pro549Ser)
gnomAD v4
2g.26480989G>CCA346133821OTOFc.1600C>G (p.Pro534Ala)
c.1645C>G (p.Pro549Ala)
2g.26480989G>TCA346133823OTOFc.1600C>A (p.Pro534Thr)
c.1645C>A (p.Pro549Thr)
2g.26480990G>ACA44401064OTOFc.1599C>T (p.Gly533=)
c.1644C>T (p.Gly548=)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.26480990G>CCA425206188OTOFc.1599C>G (p.Gly533=)
c.1644C>G (p.Gly548=)
2g.26480990G=CA1239827922OTOFc.1599C= (p.Gly533=)
c.1644C= (p.Gly548=)
2g.26480990G>TCA425206189OTOFc.1599C>A (p.Gly533=)
c.1644C>A (p.Gly548=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26480991C>ACA346133828OTOFc.1598G>T (p.Gly533Val)
c.1643G>T (p.Gly548Val)
2g.26480991C=CA1239827924OTOFc.1598G= (p.Gly533=)
c.1643G= (p.Gly548=)
2g.26480991C>GCA346133830OTOFc.1598G>C (p.Gly533Ala)
c.1643G>C (p.Gly548Ala)
2g.26480991C>TCA346133832OTOFc.1598G>A (p.Gly533Asp)
c.1643G>A (p.Gly548Asp)
dbSNP COSMIC
2g.26480992C>ACA346133835OTOFc.1597G>T (p.Gly533Cys)
c.1642G>T (p.Gly548Cys)
2g.26480992C>GCA346133837OTOFc.1597G>C (p.Gly533Arg)
c.1642G>C (p.Gly548Arg)
2g.26480992C>TCA346133839OTOFc.1597G>A (p.Gly533Ser)
c.1642G>A (p.Gly548Ser)
2g.26480993C>ACA425206196OTOFc.1596G>T (p.Leu532=)
c.1641G>T (p.Leu547=)
2g.26480993C>GCA425206195OTOFc.1596G>C (p.Leu532=)
c.1641G>C (p.Leu547=)
2g.26480993C>TCA425206194OTOFc.1596G>A (p.Leu532=)
c.1641G>A (p.Leu547=)
gnomAD v4
2g.26480994A>CCA346133846OTOFc.1595T>G (p.Leu532Arg)
c.1640T>G (p.Leu547Arg)
2g.26480994A>GCA346133842OTOFc.1595T>C (p.Leu532Pro)
c.1640T>C (p.Leu547Pro)
2g.26480994A>TCA346133843OTOFc.1595T>A (p.Leu532Gln)
c.1640T>A (p.Leu547Gln)
2g.26480994_26480996delinsAGTCA1239827925OTOFc.1593_1595delinsACT (p.Thr531=)
c.1638_1640delinsACT (p.Thr546=)
2g.26480995G>ACA44401067OTOFc.1594C>T (p.Leu532=)
c.1639C>T (p.Leu547=)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.26480995G>CCA346133850OTOFc.1594C>G (p.Leu532Val)
c.1639C>G (p.Leu547Val)
2g.26480995G=CA1239827928OTOFc.1594C= (p.Leu532=)
c.1639C= (p.Leu547=)
2g.26480995G>TCA346133852OTOFc.1594C>A (p.Leu532Met)
c.1639C>A (p.Leu547Met)
gnomAD v4
2g.26480998_26480999delCA767288938OTOFc.1593_1594del (p.Leu532GlyfsTer13)
c.1638_1639del (p.Leu547GlyfsTer13)
dbSNP
2g.26480996T>ACA425206198OTOFc.1593A>T (p.Thr531=)
c.1638A>T (p.Thr546=)
2g.26480996T>CCA425206201OTOFc.1593A>G (p.Thr531=)
c.1638A>G (p.Thr546=)
2g.26480996T>GCA1564214OTOFc.1593A>C (p.Thr531=)
c.1638A>C (p.Thr546=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26480996T=CA1239827930OTOFc.1593A= (p.Thr531=)
c.1638A= (p.Thr546=)
2g.26480997G>ACA1564215OTOFc.1592C>T (p.Thr531Ile)
c.1637C>T (p.Thr546Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.26480997G>CCA346133858OTOFc.1592C>G (p.Thr531Arg)
c.1637C>G (p.Thr546Arg)
2g.26480997G=CA1239827931OTOFc.1592C= (p.Thr531=)
c.1637C= (p.Thr546=)
2g.26480997G>TCA346133861OTOFc.1592C>A (p.Thr531Lys)
c.1637C>A (p.Thr546Lys)
2g.26480998T>ACA346133866OTOFc.1591A>T (p.Thr531Ser)
c.1636A>T (p.Thr546Ser)
2g.26480998T>CCA1564216OTOFc.1591A>G (p.Thr531Ala)
c.1636A>G (p.Thr546Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.26480998T>GCA346133872OTOFc.1591A>C (p.Thr531Pro)
c.1636A>C (p.Thr546Pro)
2g.26480998T=CA1239827933OTOFc.1591A= (p.Thr531=)
c.1636A= (p.Thr546=)
2g.26480999G>ACA1564217OTOFc.1590C>T (p.Pro530=)
c.1635C>T (p.Pro545=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.26480999G>CCA425206207OTOFc.1590C>G (p.Pro530=)
c.1635C>G (p.Pro545=)
2g.26480999G=CA1239827934OTOFc.1590C= (p.Pro530=)
c.1635C= (p.Pro545=)
2g.26480999G>TCA425206208OTOFc.1590C>A (p.Pro530=)
c.1635C>A (p.Pro545=)
2g.26481000G>ACA346133885OTOFc.1589C>T (p.Pro530Leu)
c.1634C>T (p.Pro545Leu)
2g.26481000G>CCA346133887OTOFc.1589C>G (p.Pro530Arg)
c.1634C>G (p.Pro545Arg)
2g.26481000G>TCA346133881OTOFc.1589C>A (p.Pro530His)
c.1634C>A (p.Pro545His)
2g.26481001G>ACA346133891OTOFc.1588C>T (p.Pro530Ser)
c.1633C>T (p.Pro545Ser)
COSMIC
2g.26481001G>CCA346133894OTOFc.1588C>G (p.Pro530Ala)
c.1633C>G (p.Pro545Ala)
2g.26481001G>TCA346133898OTOFc.1588C>A (p.Pro530Thr)
c.1633C>A (p.Pro545Thr)
2g.26481002C>ACA425206212OTOFc.1587G>T (p.Leu529=)
c.1632G>T (p.Leu544=)
2g.26481002C>GCA425206213OTOFc.1587G>C (p.Leu529=)
c.1632G>C (p.Leu544=)
ClinVar
2g.26481002C>TCA425206214OTOFc.1587G>A (p.Leu529=)
c.1632G>A (p.Leu544=)
ClinVar
2g.26481003A>CCA346133906OTOFc.1586T>G (p.Leu529Arg)
c.1631T>G (p.Leu544Arg)
2g.26481003A>GCA346133910OTOFc.1586T>C (p.Leu529Pro)
c.1631T>C (p.Leu544Pro)
2g.26481003A>TCA346133913OTOFc.1586T>A (p.Leu529Gln)
c.1631T>A (p.Leu544Gln)
2g.26481003_26481008delCA2658238444OTOFc.1581_1586del (p.Phe528_Leu529del)
c.1626_1631del (p.Phe543_Leu544del)
gnomAD v4
2g.26481004G>ACA425206217OTOFc.1585C>T (p.Leu529=)
c.1630C>T (p.Leu544=)
gnomAD v4
2g.26481004G>CCA346133920OTOFc.1585C>G (p.Leu529Val)
c.1630C>G (p.Leu544Val)
2g.26481004G>TCA346133919OTOFc.1585C>A (p.Leu529Met)
c.1630C>A (p.Leu544Met)
2g.26481005G>ACA1564218OTOFc.1584C>T (p.Phe528=)
c.1629C>T (p.Phe543=)
dbSNP ExAC gnomAD v2
2g.26481005G>CCA346133944OTOFc.1584C>G (p.Phe528Leu)
c.1629C>G (p.Phe543Leu)
2g.26481005G=CA1239827936OTOFc.1584C= (p.Phe528=)
c.1629C= (p.Phe543=)
2g.26481005G>TCA346133947OTOFc.1584C>A (p.Phe528Leu)
c.1629C>A (p.Phe543Leu)
2g.26481006A>CCA346133950OTOFc.1583T>G (p.Phe528Cys)
c.1628T>G (p.Phe543Cys)
2g.26481006A>GCA346133953OTOFc.1583T>C (p.Phe528Ser)
c.1628T>C (p.Phe543Ser)
2g.26481006A>TCA346133956OTOFc.1583T>A (p.Phe528Tyr)
c.1628T>A (p.Phe543Tyr)
2g.26481007A>CCA346133960OTOFc.1582T>G (p.Phe528Val)
c.1627T>G (p.Phe543Val)
2g.26481007A>GCA346133966OTOFc.1582T>C (p.Phe528Leu)
c.1627T>C (p.Phe543Leu)
gnomAD v4
2g.26481007A>TCA346133963OTOFc.1582T>A (p.Phe528Ile)
c.1627T>A (p.Phe543Ile)
2g.26481008G>ACA425206220OTOFc.1581C>T (p.Gly527=)
c.1626C>T (p.Gly542=)
dbSNP
2g.26481008G>CCA425206221OTOFc.1581C>G (p.Gly527=)
c.1626C>G (p.Gly542=)
2g.26481008G=CA1239827937OTOFc.1581C= (p.Gly527=)
c.1626C= (p.Gly542=)
2g.26481008G>TCA425206222OTOFc.1581C>A (p.Gly527=)
c.1626C>A (p.Gly542=)
ClinVar
2g.26481009C>ACA346133973OTOFc.1580G>T (p.Gly527Val)
c.1625G>T (p.Gly542Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26481009C=CA1239827939OTOFc.1580G= (p.Gly527=)
c.1625G= (p.Gly542=)
2g.26481009C>GCA346133976OTOFc.1580G>C (p.Gly527Ala)
c.1625G>C (p.Gly542Ala)
2g.26481009C>TCA346133979OTOFc.1580G>A (p.Gly527Asp)
c.1625G>A (p.Gly542Asp)
gnomAD v4
2g.26481010C>ACA346133984OTOFc.1580-1G>T (n.1580-1G>T)
c.1625-1G>T (n.1625-1G>T)
2g.26481010C>GCA346133986OTOFc.1580-1G>C (n.1580-1G>C)
c.1625-1G>C (n.1625-1G>C)
2g.26481010C>TCA346133989OTOFc.1580-1G>A (n.1580-1G>A)
c.1625-1G>A (n.1625-1G>A)
gnomAD v4
2g.26481011T>ACA346133993OTOFc.1580-2A>T (n.1580-2A>T)
c.1625-2A>T (n.1625-2A>T)
gnomAD v4
2g.26481011T>CCA346133997OTOFc.1580-2A>G (n.1580-2A>G)
c.1625-2A>G (n.1625-2A>G)
2g.26481011T>GCA346133999OTOFc.1580-2A>C (n.1580-2A>C)
c.1625-2A>C (n.1625-2A>C)
gnomAD v4
2g.26481012G>ACA1239827942OTOFc.1580-3C>T (n.1580-3C>T)
c.1625-3C>T (n.1625-3C>T)
dbSNP
2g.26481012G=CA1239827941OTOFc.1580-3C= (n.1580-3C=)
c.1625-3C= (n.1625-3C=)
2g.26481014G>ACA2658238452OTOFc.1580-5C>T (n.1580-5C>T)
c.1625-5C>T (n.1625-5C>T)
ClinVar gnomAD v4
2g.26481014_26481015insTTCCA2658238456OTOFc.1580-6_1580-5insGAA (n.1580-6_1580-5insGAA)
c.1625-6_1625-5insGAA (n.1625-6_1625-5insGAA)
gnomAD v4
2g.26481015G>ACA177561OTOFc.1580-6C>T (n.1580-6C>T)
c.1625-6C>T (n.1625-6C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26481015G>CCA2658238460OTOFc.1580-6C>G (n.1580-6C>G)
c.1625-6C>G (n.1625-6C>G)
gnomAD v4
2g.26481015G=CA1239827943OTOFc.1580-6C= (n.1580-6C=)
c.1625-6C= (n.1625-6C=)
2g.26481015G>TCA2658238463OTOFc.1580-6C>A (n.1580-6C>A)
c.1625-6C>A (n.1625-6C>A)
gnomAD v4
2g.26481015_26481016delinsAACA2499215834OTOFc.1580-7_1580-6delinsTT (n.1580-7_1580-6delinsTT)
c.1625-7_1625-6delinsTT (n.1625-7_1625-6delinsTT)
ClinVar dbSNP
2g.26481016C>ACA177562OTOFc.1580-7G>T (n.1580-7G>T)
c.1625-7G>T (n.1625-7G>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26481016C=CA1239827945OTOFc.1580-7G= (n.1580-7G=)
c.1625-7G= (n.1625-7G=)
2g.26481017A=CA1239827947OTOFc.1580-8T= (n.1580-8T=)
c.1625-8T= (n.1625-8T=)
2g.26481017A>CCA531762012OTOFc.1580-8T>G (n.1580-8T>G)
c.1625-8T>G (n.1625-8T>G)
dbSNP gnomAD v2 gnomAD v4
2g.26481017A>TCA2658238476OTOFc.1580-8T>A (n.1580-8T>A)
c.1625-8T>A (n.1625-8T>A)
gnomAD v4
2g.26481017dupCA1564219OTOFc.1580-8dup (n.1580-8dup)
c.1625-8dup (n.1625-8dup)
dbSNP ExAC gnomAD v3 gnomAD v4
2g.26481018G=CA1239827949OTOFc.1580-9C= (n.1580-9C=)
c.1625-9C= (n.1625-9C=)
2g.26481018G>TCA531762013OTOFc.1580-9C>A (n.1580-9C>A)
c.1625-9C>A (n.1625-9C>A)
dbSNP gnomAD v2 gnomAD v4
2g.26481019T>CCA1564221OTOFc.1580-10A>G (n.1580-10A>G)
c.1625-10A>G (n.1625-10A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26481019T>GCA1564220OTOFc.1580-10A>C (n.1580-10A>C)
c.1625-10A>C (n.1625-10A>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.26481019T=CA1239827951OTOFc.1580-10A= (n.1580-10A=)
c.1625-10A= (n.1625-10A=)
2g.26481020G>ACA1564222OTOFc.1580-11C>T (n.1580-11C>T)
c.1625-11C>T (n.1625-11C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.26481020G=CA1239827953OTOFc.1580-11C= (n.1580-11C=)
c.1625-11C= (n.1625-11C=)
2g.26481020G>TCA2658238496OTOFc.1580-11C>A (n.1580-11C>A)
c.1625-11C>A (n.1625-11C>A)
gnomAD v4
2g.26481021G>TCA2658238497OTOFc.1580-12C>A (n.1580-12C>A)
c.1625-12C>A (n.1625-12C>A)
gnomAD v4
2g.26481022G>ACA2658238501OTOFc.1580-13C>T (n.1580-13C>T)
c.1625-13C>T (n.1625-13C>T)
gnomAD v4
2g.26481022G>TCA2658238499OTOFc.1580-13C>A (n.1580-13C>A)
c.1625-13C>A (n.1625-13C>A)
gnomAD v4
2g.26481024A=CA1239827954OTOFc.1580-15T= (n.1580-15T=)
c.1625-15T= (n.1625-15T=)
2g.26481024A>GCA767288978OTOFc.1580-15T>C (n.1580-15T>C)
c.1625-15T>C (n.1625-15T>C)
dbSNP gnomAD v3 gnomAD v4
2g.26481025C>ACA2658238502OTOFc.1580-16G>T (n.1580-16G>T)
c.1625-16G>T (n.1625-16G>T)
gnomAD v4
2g.26481025C=CA1239827955OTOFc.1580-16G= (n.1580-16G=)
c.1625-16G= (n.1625-16G=)
2g.26481025C>GCA2698796832OTOFc.1580-16G>C (n.1580-16G>C)
c.1625-16G>C (n.1625-16G>C)
dbSNP
2g.26481025C>TCA767288982OTOFc.1580-16G>A (n.1580-16G>A)
c.1625-16G>A (n.1625-16G>A)
dbSNP gnomAD v4
2g.26481025_26481026delinsCACA1239827956OTOFc.1580-17_1580-16delinsTG (n.1580-17_1580-16delinsTG)
c.1625-17_1625-16delinsTG (n.1625-17_1625-16delinsTG)
2g.26481030delCA1028609708OTOFc.1580-17del (n.1580-17del)
c.1625-17del (n.1625-17del)
dbSNP gnomAD v3 gnomAD v4
2g.26481027A=CA1239827959OTOFc.1580-18T= (n.1580-18T=)
c.1625-18T= (n.1625-18T=)
2g.26481027A>GCA44401091OTOFc.1580-18T>C (n.1580-18T>C)
c.1625-18T>C (n.1625-18T>C)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.26481032G>TCA2658238518OTOFc.1580-23C>A (n.1580-23C>A)
c.1625-23C>A (n.1625-23C>A)
gnomAD v4
2g.26481033A>GCA2658238521OTOFc.1580-24T>C (n.1580-24T>C)
c.1625-24T>C (n.1625-24T>C)
gnomAD v4
2g.26481033_26481034delinsAGCA1239827960OTOFc.1580-25_1580-24delinsCT (n.1580-25_1580-24delinsCT)
c.1625-25_1625-24delinsCT (n.1625-25_1625-24delinsCT)
2g.26481034G>ACA2658238529OTOFc.1580-25C>T (n.1580-25C>T)
c.1625-25C>T (n.1625-25C>T)
gnomAD v4
2g.26481034G>TCA2658238526OTOFc.1580-25C>A (n.1580-25C>A)
c.1625-25C>A (n.1625-25C>A)
gnomAD v4
2g.26481038dupCA1564223OTOFc.1580-25dup (n.1580-25dup)
c.1625-25dup (n.1625-25dup)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26481038delCA531395716OTOFc.1580-25del (n.1580-25del)
c.1625-25del (n.1625-25del)
dbSNP gnomAD v2 gnomAD v4
2g.26481035G>ACA1239827962OTOFc.1580-26C>T (n.1580-26C>T)
c.1625-26C>T (n.1625-26C>T)
dbSNP gnomAD v4
2g.26481035G=CA1239827961OTOFc.1580-26C= (n.1580-26C=)
c.1625-26C= (n.1625-26C=)
2g.26481036G>ACA44401098OTOFc.1580-27C>T (n.1580-27C>T)
c.1625-27C>T (n.1625-27C>T)
dbSNP gnomAD v4
2g.26481036G=CA1239827963OTOFc.1580-27C= (n.1580-27C=)
c.1625-27C= (n.1625-27C=)
2g.26481036G>TCA1564224OTOFc.1580-27C>A (n.1580-27C>A)
c.1625-27C>A (n.1625-27C>A)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.26481037G>ACA767288988OTOFc.1580-28C>T (n.1580-28C>T)
c.1625-28C>T (n.1625-28C>T)
dbSNP
2g.26481037G=CA1239827965OTOFc.1580-28C= (n.1580-28C=)
c.1625-28C= (n.1625-28C=)
2g.26481037G>TCA2658238549OTOFc.1580-28C>A (n.1580-28C>A)
c.1625-28C>A (n.1625-28C>A)
gnomAD v4
2g.26481038G>ACA2658238551OTOFc.1580-29C>T (n.1580-29C>T)
c.1625-29C>T (n.1625-29C>T)
gnomAD v4
2g.26481038G>CCA2658238553OTOFc.1580-29C>G (n.1580-29C>G)
c.1625-29C>G (n.1625-29C>G)
gnomAD v4
2g.26481038G>TCA2658238552OTOFc.1580-29C>A (n.1580-29C>A)
c.1625-29C>A (n.1625-29C>A)
gnomAD v4
2g.26481039C>TCA2658238555OTOFc.1580-30G>A (n.1580-30G>A)
c.1625-30G>A (n.1625-30G>A)
gnomAD v4
2g.26481040A>CCA2698924841OTOFc.1580-31T>G (n.1580-31T>G)
c.1625-31T>G (n.1625-31T>G)
dbSNP
2g.26481040A>GCA2658238558OTOFc.1580-31T>C (n.1580-31T>C)
c.1625-31T>C (n.1625-31T>C)
gnomAD v4
2g.26481041G>ACA2576699684OTOFc.1580-32C>T (n.1580-32C>T)
c.1625-32C>T (n.1625-32C>T)
gnomAD v4
2g.26481041G=CA1239827966OTOFc.1580-32C= (n.1580-32C=)
c.1625-32C= (n.1625-32C=)
2g.26481041G>TCA1239827967OTOFc.1580-32C>A (n.1580-32C>A)
c.1625-32C>A (n.1625-32C>A)
dbSNP gnomAD v4
2g.26481042C>ACA2658238563OTOFc.1580-33G>T (n.1580-33G>T)
c.1625-33G>T (n.1625-33G>T)
gnomAD v4
2g.26481042C=CA1239827968OTOFc.1580-33G= (n.1580-33G=)
c.1625-33G= (n.1625-33G=)
2g.26481042C>TCA1564225OTOFc.1580-33G>A (n.1580-33G>A)
c.1625-33G>A (n.1625-33G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26481043G>ACA1564226OTOFc.1580-34C>T (n.1580-34C>T)
c.1625-34C>T (n.1625-34C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26481043G=CA1239827970OTOFc.1580-34C= (n.1580-34C=)
c.1625-34C= (n.1625-34C=)
2g.26481043G>TCA2576699685OTOFc.1580-34C>A (n.1580-34C>A)
c.1625-34C>A (n.1625-34C>A)
gnomAD v4
2g.26481045C=CA1239827971OTOFc.1580-36G= (n.1580-36G=)
c.1625-36G= (n.1625-36G=)
2g.26481045C>TCA1239827972OTOFc.1580-36G>A (n.1580-36G>A)
c.1625-36G>A (n.1625-36G>A)
dbSNP
2g.26481047C=CA1239827974OTOFc.1580-38G= (n.1580-38G=)
c.1625-38G= (n.1625-38G=)
2g.26481047C>TCA44401106OTOFc.1580-38G>A (n.1580-38G>A)
c.1625-38G>A (n.1625-38G>A)
dbSNP gnomAD v3 gnomAD v4
2g.26481048A=CA1239827975OTOFc.1580-39T= (n.1580-39T=)
c.1625-39T= (n.1625-39T=)
2g.26481048A>GCA1239827976OTOFc.1580-39T>C (n.1580-39T>C)
c.1625-39T>C (n.1625-39T>C)
dbSNP gnomAD v4
2g.26481048A>TCA646575421OTOFc.1580-39T>A (n.1580-39T>A)
c.1625-39T>A (n.1625-39T>A)
COSMIC
2g.26481051C>ACA2576699686OTOFc.1580-42G>T (n.1580-42G>T)
c.1625-42G>T (n.1625-42G>T)
2g.26481051C=CA1239827977OTOFc.1580-42G= (n.1580-42G=)
c.1625-42G= (n.1625-42G=)
2g.26481051C>GCA2658238581OTOFc.1580-42G>C (n.1580-42G>C)
c.1625-42G>C (n.1625-42G>C)
gnomAD v4
2g.26481051C>TCA531395718OTOFc.1580-42G>A (n.1580-42G>A)
c.1625-42G>A (n.1625-42G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26481052A=CA1239827979OTOFc.1580-43T= (n.1580-43T=)
c.1625-43T= (n.1625-43T=)
2g.26481052A>CCA1028609714OTOFc.1580-43T>G (n.1580-43T>G)
c.1625-43T>G (n.1625-43T>G)
dbSNP gnomAD v3 gnomAD v4
2g.26481052A>GCA531395719OTOFc.1580-43T>C (n.1580-43T>C)
c.1625-43T>C (n.1625-43T>C)
dbSNP gnomAD v2 gnomAD v4
2g.26481053G>TCA2576699687OTOFc.1580-44C>A (n.1580-44C>A)
c.1625-44C>A (n.1625-44C>A)
gnomAD v4
2g.26481054T>ACA531395720OTOFc.1580-45A>T (n.1580-45A>T)
c.1625-45A>T (n.1625-45A>T)
dbSNP gnomAD v2 gnomAD v4
2g.26481054T=CA1239827980OTOFc.1580-45A= (n.1580-45A=)
c.1625-45A= (n.1625-45A=)
2g.26481057C>TCA2576699688OTOFc.1580-48G>A (n.1580-48G>A)
c.1625-48G>A (n.1625-48G>A)
2g.26481059C=CA1239827982OTOFc.1580-50G= (n.1580-50G=)
c.1625-50G= (n.1625-50G=)
2g.26481059C>GCA531395721OTOFc.1580-50G>C (n.1580-50G>C)
c.1625-50G>C (n.1625-50G>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26481059C>TCA767289010OTOFc.1580-50G>A (n.1580-50G>A)
c.1625-50G>A (n.1625-50G>A)
dbSNP
2g.26481060T>CCA1564227OTOFc.1580-51A>G (n.1580-51A>G)
c.1625-51A>G (n.1625-51A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.26481060T=CA1239827983OTOFc.1580-51A= (n.1580-51A=)
c.1625-51A= (n.1625-51A=)
2g.26481061G>ACA2658238582OTOFc.1580-52C>T (n.1580-52C>T)
c.1625-52C>T (n.1625-52C>T)
gnomAD v4
2g.26481061G=CA1239827984OTOFc.1580-52C= (n.1580-52C=)
c.1625-52C= (n.1625-52C=)
2g.26481061G>TCA531395723OTOFc.1580-52C>A (n.1580-52C>A)
c.1625-52C>A (n.1625-52C>A)
dbSNP gnomAD v2 gnomAD v4
2g.26481062G>ACA2658238583OTOFc.1580-53C>T (n.1580-53C>T)
c.1625-53C>T (n.1625-53C>T)
gnomAD v4
2g.26481062G>CCA531395724OTOFc.1580-53C>G (n.1580-53C>G)
c.1625-53C>G (n.1625-53C>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26481062G=CA1239827986OTOFc.1580-53C= (n.1580-53C=)
c.1625-53C= (n.1625-53C=)

Number of alleles fetched