Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.26460033delCA2658232650OTOFc.5989del (p.Ala1997ProfsTer?)
c.3512+617del (n.3512+617del)
c.3748del (p.Ala1250ProfsTer?)
c.3688del (p.Ala1230ProfsTer?)
c.3919del (p.Ala1307ProfsTer?)
c.5813+617del (n.5813+617del)
c.5798+617del (n.5798+617del)
c.5858+617del (n.5858+617del)
c.5929del (p.Ala1977ProfsTer?)
 gnomAD v4
2g.26460032C>ACA346127287OTOFc.5987G>T (p.Gly1996Val)
c.3512+615G>T (n.3512+615G>T)
c.3746G>T (p.Gly1249Val)
c.3686G>T (p.Gly1229Val)
c.3917G>T (p.Gly1306Val)
c.5813+615G>T (n.5813+615G>T)
c.5798+615G>T (n.5798+615G>T)
c.5858+615G>T (n.5858+615G>T)
c.5927G>T (p.Gly1976Val)
 gnomAD v4
2g.26460032C>GCA346127283OTOFc.5987G>C (p.Gly1996Ala)
c.3512+615G>C (n.3512+615G>C)
c.3746G>C (p.Gly1249Ala)
c.3686G>C (p.Gly1229Ala)
c.3917G>C (p.Gly1306Ala)
c.5813+615G>C (n.5813+615G>C)
c.5798+615G>C (n.5798+615G>C)
c.5858+615G>C (n.5858+615G>C)
c.5927G>C (p.Gly1976Ala)
2g.26460032C>TCA346127285OTOFc.5987G>A (p.Gly1996Glu)
c.3512+615G>A (n.3512+615G>A)
c.3746G>A (p.Gly1249Glu)
c.3686G>A (p.Gly1229Glu)
c.3917G>A (p.Gly1306Glu)
c.5813+615G>A (n.5813+615G>A)
c.5798+615G>A (n.5798+615G>A)
c.5858+615G>A (n.5858+615G>A)
c.5927G>A (p.Gly1976Glu)
 gnomAD v4
2g.26460033C>ACA346127289OTOFc.5986G>T (p.Gly1996Trp)
c.3512+614G>T (n.3512+614G>T)
c.3745G>T (p.Gly1249Trp)
c.3685G>T (p.Gly1229Trp)
c.3916G>T (p.Gly1306Trp)
c.5813+614G>T (n.5813+614G>T)
c.5798+614G>T (n.5798+614G>T)
c.5858+614G>T (n.5858+614G>T)
c.5926G>T (p.Gly1976Trp)
 gnomAD v4
2g.26460033C=CA1239823966OTOFc.5986G= (p.Gly1996=)
c.3512+614G= (n.3512+614G=)
c.3745G= (p.Gly1249=)
c.3685G= (p.Gly1229=)
c.3916G= (p.Gly1306=)
c.5813+614G= (n.5813+614G=)
c.5798+614G= (n.5798+614G=)
c.5858+614G= (n.5858+614G=)
c.5926G= (p.Gly1976=)
2g.26460033C>GCA1562648OTOFc.5986G>C (p.Gly1996Arg)
c.3512+614G>C (n.3512+614G>C)
c.3745G>C (p.Gly1249Arg)
c.3685G>C (p.Gly1229Arg)
c.3916G>C (p.Gly1306Arg)
c.5813+614G>C (n.5813+614G>C)
c.5798+614G>C (n.5798+614G>C)
c.5858+614G>C (n.5858+614G>C)
c.5926G>C (p.Gly1976Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26460033C>TCA1562649OTOFc.5986G>A (p.Gly1996Arg)
c.3512+614G>A (n.3512+614G>A)
c.3745G>A (p.Gly1249Arg)
c.3685G>A (p.Gly1229Arg)
c.3916G>A (p.Gly1306Arg)
c.5813+614G>A (n.5813+614G>A)
c.5798+614G>A (n.5798+614G>A)
c.5858+614G>A (n.5858+614G>A)
c.5926G>A (p.Gly1976Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26460034G>ACA1562650OTOFc.5985C>T (p.Leu1995=)
c.3512+613C>T (n.3512+613C>T)
c.3744C>T (p.Leu1248=)
c.3684C>T (p.Leu1228=)
c.3915C>T (p.Leu1305=)
c.5813+613C>T (n.5813+613C>T)
c.5798+613C>T (n.5798+613C>T)
c.5858+613C>T (n.5858+613C>T)
c.5925C>T (p.Leu1975=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26460034G>CCA425206433OTOFc.5985C>G (p.Leu1995=)
c.3512+613C>G (n.3512+613C>G)
c.3744C>G (p.Leu1248=)
c.3684C>G (p.Leu1228=)
c.3915C>G (p.Leu1305=)
c.5813+613C>G (n.5813+613C>G)
c.5798+613C>G (n.5798+613C>G)
c.5858+613C>G (n.5858+613C>G)
c.5925C>G (p.Leu1975=)
2g.26460034G=CA1239823969OTOFc.5985C= (p.Leu1995=)
c.3512+613C= (n.3512+613C=)
c.3744C= (p.Leu1248=)
c.3684C= (p.Leu1228=)
c.3915C= (p.Leu1305=)
c.5813+613C= (n.5813+613C=)
c.5798+613C= (n.5798+613C=)
c.5858+613C= (n.5858+613C=)
c.5925C= (p.Leu1975=)
2g.26460034G>TCA425206434OTOFc.5985C>A (p.Leu1995=)
c.3512+613C>A (n.3512+613C>A)
c.3744C>A (p.Leu1248=)
c.3684C>A (p.Leu1228=)
c.3915C>A (p.Leu1305=)
c.5813+613C>A (n.5813+613C>A)
c.5798+613C>A (n.5798+613C>A)
c.5858+613C>A (n.5858+613C>A)
c.5925C>A (p.Leu1975=)
 gnomAD v4
2g.26460035A>CCA346127300OTOFc.5984T>G (p.Leu1995Arg)
c.3512+612T>G (n.3512+612T>G)
c.3743T>G (p.Leu1248Arg)
c.3683T>G (p.Leu1228Arg)
c.3914T>G (p.Leu1305Arg)
c.5813+612T>G (n.5813+612T>G)
c.5798+612T>G (n.5798+612T>G)
c.5858+612T>G (n.5858+612T>G)
c.5924T>G (p.Leu1975Arg)
2g.26460035A>GCA346127301OTOFc.5984T>C (p.Leu1995Pro)
c.3512+612T>C (n.3512+612T>C)
c.3743T>C (p.Leu1248Pro)
c.3683T>C (p.Leu1228Pro)
c.3914T>C (p.Leu1305Pro)
c.5813+612T>C (n.5813+612T>C)
c.5798+612T>C (n.5798+612T>C)
c.5858+612T>C (n.5858+612T>C)
c.5924T>C (p.Leu1975Pro)
2g.26460035A>TCA346127302OTOFc.5984T>A (p.Leu1995His)
c.3512+612T>A (n.3512+612T>A)
c.3743T>A (p.Leu1248His)
c.3683T>A (p.Leu1228His)
c.3914T>A (p.Leu1305His)
c.5813+612T>A (n.5813+612T>A)
c.5798+612T>A (n.5798+612T>A)
c.5858+612T>A (n.5858+612T>A)
c.5924T>A (p.Leu1975His)
2g.26460036G>ACA346127305OTOFc.5983C>T (p.Leu1995Phe)
c.3512+611C>T (n.3512+611C>T)
c.3742C>T (p.Leu1248Phe)
c.3682C>T (p.Leu1228Phe)
c.3913C>T (p.Leu1305Phe)
c.5813+611C>T (n.5813+611C>T)
c.5798+611C>T (n.5798+611C>T)
c.5858+611C>T (n.5858+611C>T)
c.5923C>T (p.Leu1975Phe)
 dbSNP gnomAD v2 gnomAD v4
2g.26460036G>CCA346127313OTOFc.5983C>G (p.Leu1995Val)
c.3512+611C>G (n.3512+611C>G)
c.3742C>G (p.Leu1248Val)
c.3682C>G (p.Leu1228Val)
c.3913C>G (p.Leu1305Val)
c.5813+611C>G (n.5813+611C>G)
c.5798+611C>G (n.5798+611C>G)
c.5858+611C>G (n.5858+611C>G)
c.5923C>G (p.Leu1975Val)
 gnomAD v4
2g.26460036G=CA1239823971OTOFc.5983C= (p.Leu1995=)
c.3512+611C= (n.3512+611C=)
c.3742C= (p.Leu1248=)
c.3682C= (p.Leu1228=)
c.3913C= (p.Leu1305=)
c.5813+611C= (n.5813+611C=)
c.5798+611C= (n.5798+611C=)
c.5858+611C= (n.5858+611C=)
c.5923C= (p.Leu1975=)
2g.26460036G>TCA346127315OTOFc.5983C>A (p.Leu1995Ile)
c.3512+611C>A (n.3512+611C>A)
c.3742C>A (p.Leu1248Ile)
c.3682C>A (p.Leu1228Ile)
c.3913C>A (p.Leu1305Ile)
c.5813+611C>A (n.5813+611C>A)
c.5798+611C>A (n.5798+611C>A)
c.5858+611C>A (n.5858+611C>A)
c.5923C>A (p.Leu1975Ile)
 gnomAD v4
2g.26460037G>ACA425206438OTOFc.5982C>T (p.Ile1994=)
c.3512+610C>T (n.3512+610C>T)
c.3741C>T (p.Ile1247=)
c.3681C>T (p.Ile1227=)
c.3912C>T (p.Ile1304=)
c.5813+610C>T (n.5813+610C>T)
c.5798+610C>T (n.5798+610C>T)
c.5858+610C>T (n.5858+610C>T)
c.5922C>T (p.Ile1974=)
 gnomAD v4
2g.26460037G>CCA346127316OTOFc.5982C>G (p.Ile1994Met)
c.3512+610C>G (n.3512+610C>G)
c.3741C>G (p.Ile1247Met)
c.3681C>G (p.Ile1227Met)
c.3912C>G (p.Ile1304Met)
c.5813+610C>G (n.5813+610C>G)
c.5798+610C>G (n.5798+610C>G)
c.5858+610C>G (n.5858+610C>G)
c.5922C>G (p.Ile1974Met)
 gnomAD v4
2g.26460037G>TCA425206439OTOFc.5982C>A (p.Ile1994=)
c.3512+610C>A (n.3512+610C>A)
c.3741C>A (p.Ile1247=)
c.3681C>A (p.Ile1227=)
c.3912C>A (p.Ile1304=)
c.5813+610C>A (n.5813+610C>A)
c.5798+610C>A (n.5798+610C>A)
c.5858+610C>A (n.5858+610C>A)
c.5922C>A (p.Ile1974=)
 COSMIC COSMIC
2g.26460038A>CCA346127338OTOFc.5981T>G (p.Ile1994Ser)
c.3512+609T>G (n.3512+609T>G)
c.3740T>G (p.Ile1247Ser)
c.3680T>G (p.Ile1227Ser)
c.3911T>G (p.Ile1304Ser)
c.5813+609T>G (n.5813+609T>G)
c.5798+609T>G (n.5798+609T>G)
c.5858+609T>G (n.5858+609T>G)
c.5921T>G (p.Ile1974Ser)
2g.26460038A>GCA346127342OTOFc.5981T>C (p.Ile1994Thr)
c.3512+609T>C (n.3512+609T>C)
c.3740T>C (p.Ile1247Thr)
c.3680T>C (p.Ile1227Thr)
c.3911T>C (p.Ile1304Thr)
c.5813+609T>C (n.5813+609T>C)
c.5798+609T>C (n.5798+609T>C)
c.5858+609T>C (n.5858+609T>C)
c.5921T>C (p.Ile1974Thr)
2g.26460038A>TCA346127335OTOFc.5981T>A (p.Ile1994Asn)
c.3512+609T>A (n.3512+609T>A)
c.3740T>A (p.Ile1247Asn)
c.3680T>A (p.Ile1227Asn)
c.3911T>A (p.Ile1304Asn)
c.5813+609T>A (n.5813+609T>A)
c.5798+609T>A (n.5798+609T>A)
c.5858+609T>A (n.5858+609T>A)
c.5921T>A (p.Ile1974Asn)
 gnomAD v4
2g.26460039T>ACA346127343OTOFc.5980A>T (p.Ile1994Phe)
c.3512+608A>T (n.3512+608A>T)
c.3739A>T (p.Ile1247Phe)
c.3679A>T (p.Ile1227Phe)
c.3910A>T (p.Ile1304Phe)
c.5813+608A>T (n.5813+608A>T)
c.5798+608A>T (n.5798+608A>T)
c.5858+608A>T (n.5858+608A>T)
c.5920A>T (p.Ile1974Phe)
2g.26460039T>CCA346127347OTOFc.5980A>G (p.Ile1994Val)
c.3512+608A>G (n.3512+608A>G)
c.3739A>G (p.Ile1247Val)
c.3679A>G (p.Ile1227Val)
c.3910A>G (p.Ile1304Val)
c.5813+608A>G (n.5813+608A>G)
c.5798+608A>G (n.5798+608A>G)
c.5858+608A>G (n.5858+608A>G)
c.5920A>G (p.Ile1974Val)
 gnomAD v4
2g.26460039T>GCA346127349OTOFc.5980A>C (p.Ile1994Leu)
c.3512+608A>C (n.3512+608A>C)
c.3739A>C (p.Ile1247Leu)
c.3679A>C (p.Ile1227Leu)
c.3910A>C (p.Ile1304Leu)
c.5813+608A>C (n.5813+608A>C)
c.5798+608A>C (n.5798+608A>C)
c.5858+608A>C (n.5858+608A>C)
c.5920A>C (p.Ile1974Leu)
2g.26460040T>ACA346127351OTOFc.5979A>T (p.Lys1993Asn)
c.3512+607A>T (n.3512+607A>T)
c.3738A>T (p.Lys1246Asn)
c.3678A>T (p.Lys1226Asn)
c.3909A>T (p.Lys1303Asn)
c.5813+607A>T (n.5813+607A>T)
c.5798+607A>T (n.5798+607A>T)
c.5858+607A>T (n.5858+607A>T)
c.5919A>T (p.Lys1973Asn)
 gnomAD v4
2g.26460040T>CCA425206442OTOFc.5979A>G (p.Lys1993=)
c.3512+607A>G (n.3512+607A>G)
c.3738A>G (p.Lys1246=)
c.3678A>G (p.Lys1226=)
c.3909A>G (p.Lys1303=)
c.5813+607A>G (n.5813+607A>G)
c.5798+607A>G (n.5798+607A>G)
c.5858+607A>G (n.5858+607A>G)
c.5919A>G (p.Lys1973=)
2g.26460040T>GCA346127355OTOFc.5979A>C (p.Lys1993Asn)
c.3512+607A>C (n.3512+607A>C)
c.3738A>C (p.Lys1246Asn)
c.3678A>C (p.Lys1226Asn)
c.3909A>C (p.Lys1303Asn)
c.5813+607A>C (n.5813+607A>C)
c.5798+607A>C (n.5798+607A>C)
c.5858+607A>C (n.5858+607A>C)
c.5919A>C (p.Lys1973Asn)
2g.26460041T>ACA346127356OTOFc.5978A>T (p.Lys1993Ile)
c.3512+606A>T (n.3512+606A>T)
c.3737A>T (p.Lys1246Ile)
c.3677A>T (p.Lys1226Ile)
c.3908A>T (p.Lys1303Ile)
c.5813+606A>T (n.5813+606A>T)
c.5798+606A>T (n.5798+606A>T)
c.5858+606A>T (n.5858+606A>T)
c.5918A>T (p.Lys1973Ile)
 gnomAD v4
2g.26460041T>CCA346127358OTOFc.5978A>G (p.Lys1993Arg)
c.3512+606A>G (n.3512+606A>G)
c.3737A>G (p.Lys1246Arg)
c.3677A>G (p.Lys1226Arg)
c.3908A>G (p.Lys1303Arg)
c.5813+606A>G (n.5813+606A>G)
c.5798+606A>G (n.5798+606A>G)
c.5858+606A>G (n.5858+606A>G)
c.5918A>G (p.Lys1973Arg)
2g.26460041T>GCA346127359OTOFc.5978A>C (p.Lys1993Thr)
c.3512+606A>C (n.3512+606A>C)
c.3737A>C (p.Lys1246Thr)
c.3677A>C (p.Lys1226Thr)
c.3908A>C (p.Lys1303Thr)
c.5813+606A>C (n.5813+606A>C)
c.5798+606A>C (n.5798+606A>C)
c.5858+606A>C (n.5858+606A>C)
c.5918A>C (p.Lys1973Thr)
2g.26460042T>ACA346127360OTOFc.5977A>T (p.Lys1993Ter)
c.3512+605A>T (n.3512+605A>T)
c.3736A>T (p.Lys1246Ter)
c.3676A>T (p.Lys1226Ter)
c.3907A>T (p.Lys1303Ter)
c.5813+605A>T (n.5813+605A>T)
c.5798+605A>T (n.5798+605A>T)
c.5858+605A>T (n.5858+605A>T)
c.5917A>T (p.Lys1973Ter)
2g.26460042T>CCA346127361OTOFc.5977A>G (p.Lys1993Glu)
c.3512+605A>G (n.3512+605A>G)
c.3736A>G (p.Lys1246Glu)
c.3676A>G (p.Lys1226Glu)
c.3907A>G (p.Lys1303Glu)
c.5813+605A>G (n.5813+605A>G)
c.5798+605A>G (n.5798+605A>G)
c.5858+605A>G (n.5858+605A>G)
c.5917A>G (p.Lys1973Glu)
 gnomAD v4
2g.26460042T>GCA346127362OTOFc.5977A>C (p.Lys1993Gln)
c.3512+605A>C (n.3512+605A>C)
c.3736A>C (p.Lys1246Gln)
c.3676A>C (p.Lys1226Gln)
c.3907A>C (p.Lys1303Gln)
c.5813+605A>C (n.5813+605A>C)
c.5798+605A>C (n.5798+605A>C)
c.5858+605A>C (n.5858+605A>C)
c.5917A>C (p.Lys1973Gln)
2g.26460043C>ACA346127365OTOFc.5976G>T (p.Lys1992Asn)
c.3512+604G>T (n.3512+604G>T)
c.3735G>T (p.Lys1245Asn)
c.3675G>T (p.Lys1225Asn)
c.3906G>T (p.Lys1302Asn)
c.5813+604G>T (n.5813+604G>T)
c.5798+604G>T (n.5798+604G>T)
c.5858+604G>T (n.5858+604G>T)
c.5916G>T (p.Lys1972Asn)
 gnomAD v4
2g.26460043C=CA1239823974OTOFc.5976G= (p.Lys1992=)
c.3512+604G= (n.3512+604G=)
c.3735G= (p.Lys1245=)
c.3675G= (p.Lys1225=)
c.3906G= (p.Lys1302=)
c.5813+604G= (n.5813+604G=)
c.5798+604G= (n.5798+604G=)
c.5858+604G= (n.5858+604G=)
c.5916G= (p.Lys1972=)
2g.26460043C>GCA346127372OTOFc.5976G>C (p.Lys1992Asn)
c.3512+604G>C (n.3512+604G>C)
c.3735G>C (p.Lys1245Asn)
c.3675G>C (p.Lys1225Asn)
c.3906G>C (p.Lys1302Asn)
c.5813+604G>C (n.5813+604G>C)
c.5798+604G>C (n.5798+604G>C)
c.5858+604G>C (n.5858+604G>C)
c.5916G>C (p.Lys1972Asn)
2g.26460043C>TCA425206445OTOFc.5976G>A (p.Lys1992=)
c.3512+604G>A (n.3512+604G>A)
c.3735G>A (p.Lys1245=)
c.3675G>A (p.Lys1225=)
c.3906G>A (p.Lys1302=)
c.5813+604G>A (n.5813+604G>A)
c.5798+604G>A (n.5798+604G>A)
c.5858+604G>A (n.5858+604G>A)
c.5916G>A (p.Lys1972=)
 dbSNP gnomAD v2 gnomAD v4
2g.26460044T>ACA346127383OTOFc.5975A>T (p.Lys1992Met)
c.3512+603A>T (n.3512+603A>T)
c.3734A>T (p.Lys1245Met)
c.3674A>T (p.Lys1225Met)
c.3905A>T (p.Lys1302Met)
c.5813+603A>T (n.5813+603A>T)
c.5798+603A>T (n.5798+603A>T)
c.5858+603A>T (n.5858+603A>T)
c.5915A>T (p.Lys1972Met)
2g.26460044T>CCA346127377OTOFc.5975A>G (p.Lys1992Arg)
c.3512+603A>G (n.3512+603A>G)
c.3734A>G (p.Lys1245Arg)
c.3674A>G (p.Lys1225Arg)
c.3905A>G (p.Lys1302Arg)
c.5813+603A>G (n.5813+603A>G)
c.5798+603A>G (n.5798+603A>G)
c.5858+603A>G (n.5858+603A>G)
c.5915A>G (p.Lys1972Arg)
 gnomAD v4
2g.26460044T>GCA346127374OTOFc.5975A>C (p.Lys1992Thr)
c.3512+603A>C (n.3512+603A>C)
c.3734A>C (p.Lys1245Thr)
c.3674A>C (p.Lys1225Thr)
c.3905A>C (p.Lys1302Thr)
c.5813+603A>C (n.5813+603A>C)
c.5798+603A>C (n.5798+603A>C)
c.5858+603A>C (n.5858+603A>C)
c.5915A>C (p.Lys1972Thr)
2g.26460045T>ACA346127393OTOFc.5974A>T (p.Lys1992Ter)
c.3512+602A>T (n.3512+602A>T)
c.3733A>T (p.Lys1245Ter)
c.3673A>T (p.Lys1225Ter)
c.3904A>T (p.Lys1302Ter)
c.5813+602A>T (n.5813+602A>T)
c.5798+602A>T (n.5798+602A>T)
c.5858+602A>T (n.5858+602A>T)
c.5914A>T (p.Lys1972Ter)
2g.26460045T>CCA346127395OTOFc.5974A>G (p.Lys1992Glu)
c.3512+602A>G (n.3512+602A>G)
c.3733A>G (p.Lys1245Glu)
c.3673A>G (p.Lys1225Glu)
c.3904A>G (p.Lys1302Glu)
c.5813+602A>G (n.5813+602A>G)
c.5798+602A>G (n.5798+602A>G)
c.5858+602A>G (n.5858+602A>G)
c.5914A>G (p.Lys1972Glu)
 dbSNP gnomAD v2 gnomAD v4
2g.26460045T>GCA346127397OTOFc.5974A>C (p.Lys1992Gln)
c.3512+602A>C (n.3512+602A>C)
c.3733A>C (p.Lys1245Gln)
c.3673A>C (p.Lys1225Gln)
c.3904A>C (p.Lys1302Gln)
c.5813+602A>C (n.5813+602A>C)
c.5798+602A>C (n.5798+602A>C)
c.5858+602A>C (n.5858+602A>C)
c.5914A>C (p.Lys1972Gln)
2g.26460045T=CA1239823975OTOFc.5974A= (p.Lys1992=)
c.3512+602A= (n.3512+602A=)
c.3733A= (p.Lys1245=)
c.3673A= (p.Lys1225=)
c.3904A= (p.Lys1302=)
c.5813+602A= (n.5813+602A=)
c.5798+602A= (n.5798+602A=)
c.5858+602A= (n.5858+602A=)
c.5914A= (p.Lys1972=)
2g.26460046G>ACA425206448OTOFc.5973C>T (p.Val1991=)
c.3512+601C>T (n.3512+601C>T)
c.3732C>T (p.Val1244=)
c.3672C>T (p.Val1224=)
c.3903C>T (p.Val1301=)
c.5813+601C>T (n.5813+601C>T)
c.5798+601C>T (n.5798+601C>T)
c.5858+601C>T (n.5858+601C>T)
c.5913C>T (p.Val1971=)
 dbSNP gnomAD v2 gnomAD v4
2g.26460046G>CCA425206449OTOFc.5973C>G (p.Val1991=)
c.3512+601C>G (n.3512+601C>G)
c.3732C>G (p.Val1244=)
c.3672C>G (p.Val1224=)
c.3903C>G (p.Val1301=)
c.5813+601C>G (n.5813+601C>G)
c.5798+601C>G (n.5798+601C>G)
c.5858+601C>G (n.5858+601C>G)
c.5913C>G (p.Val1971=)
2g.26460046G=CA1239823976OTOFc.5973C= (p.Val1991=)
c.3512+601C= (n.3512+601C=)
c.3732C= (p.Val1244=)
c.3672C= (p.Val1224=)
c.3903C= (p.Val1301=)
c.5813+601C= (n.5813+601C=)
c.5798+601C= (n.5798+601C=)
c.5858+601C= (n.5858+601C=)
c.5913C= (p.Val1971=)
2g.26460046G>TCA425206450OTOFc.5973C>A (p.Val1991=)
c.3512+601C>A (n.3512+601C>A)
c.3732C>A (p.Val1244=)
c.3672C>A (p.Val1224=)
c.3903C>A (p.Val1301=)
c.5813+601C>A (n.5813+601C>A)
c.5798+601C>A (n.5798+601C>A)
c.5858+601C>A (n.5858+601C>A)
c.5913C>A (p.Val1971=)
 dbSNP gnomAD v2 gnomAD v4
2g.26460047A>CCA346127398OTOFc.5972T>G (p.Val1991Gly)
c.3512+600T>G (n.3512+600T>G)
c.3731T>G (p.Val1244Gly)
c.3671T>G (p.Val1224Gly)
c.3902T>G (p.Val1301Gly)
c.5813+600T>G (n.5813+600T>G)
c.5798+600T>G (n.5798+600T>G)
c.5858+600T>G (n.5858+600T>G)
c.5912T>G (p.Val1971Gly)
2g.26460047A>GCA346127400OTOFc.5972T>C (p.Val1991Ala)
c.3512+600T>C (n.3512+600T>C)
c.3731T>C (p.Val1244Ala)
c.3671T>C (p.Val1224Ala)
c.3902T>C (p.Val1301Ala)
c.5813+600T>C (n.5813+600T>C)
c.5798+600T>C (n.5798+600T>C)
c.5858+600T>C (n.5858+600T>C)
c.5912T>C (p.Val1971Ala)
2g.26460047A>TCA346127401OTOFc.5972T>A (p.Val1991Asp)
c.3512+600T>A (n.3512+600T>A)
c.3731T>A (p.Val1244Asp)
c.3671T>A (p.Val1224Asp)
c.3902T>A (p.Val1301Asp)
c.5813+600T>A (n.5813+600T>A)
c.5798+600T>A (n.5798+600T>A)
c.5858+600T>A (n.5858+600T>A)
c.5912T>A (p.Val1971Asp)
2g.26460048C>ACA346127402OTOFc.5971G>T (p.Val1991Phe)
c.3512+599G>T (n.3512+599G>T)
c.3730G>T (p.Val1244Phe)
c.3670G>T (p.Val1224Phe)
c.3901G>T (p.Val1301Phe)
c.5813+599G>T (n.5813+599G>T)
c.5798+599G>T (n.5798+599G>T)
c.5858+599G>T (n.5858+599G>T)
c.5911G>T (p.Val1971Phe)
 gnomAD v4
2g.26460048C>GCA346127403OTOFc.5971G>C (p.Val1991Leu)
c.3512+599G>C (n.3512+599G>C)
c.3730G>C (p.Val1244Leu)
c.3670G>C (p.Val1224Leu)
c.3901G>C (p.Val1301Leu)
c.5813+599G>C (n.5813+599G>C)
c.5798+599G>C (n.5798+599G>C)
c.5858+599G>C (n.5858+599G>C)
c.5911G>C (p.Val1971Leu)
2g.26460048C>TCA346127404OTOFc.5971G>A (p.Val1991Ile)
c.3512+599G>A (n.3512+599G>A)
c.3730G>A (p.Val1244Ile)
c.3670G>A (p.Val1224Ile)
c.3901G>A (p.Val1301Ile)
c.5813+599G>A (n.5813+599G>A)
c.5798+599G>A (n.5798+599G>A)
c.5858+599G>A (n.5858+599G>A)
c.5911G>A (p.Val1971Ile)
 gnomAD v4
2g.26460049delCA2749240267OTOFc.5971del (p.Val1991SerfsTer?)
c.3512+599del (n.3512+599del)
c.3730del (p.Val1244SerfsTer?)
c.3670del (p.Val1224SerfsTer?)
c.3901del (p.Val1301SerfsTer?)
c.5813+599del (n.5813+599del)
c.5798+599del (n.5798+599del)
c.5858+599del (n.5858+599del)
c.5911del (p.Val1971SerfsTer?)
2g.26460049C>ACA425206451OTOFc.5970G>T (p.Leu1990=)
c.3512+598G>T (n.3512+598G>T)
c.3729G>T (p.Leu1243=)
c.3669G>T (p.Leu1223=)
c.3900G>T (p.Leu1300=)
c.5813+598G>T (n.5813+598G>T)
c.5798+598G>T (n.5798+598G>T)
c.5858+598G>T (n.5858+598G>T)
c.5910G>T (p.Leu1970=)
 gnomAD v4
2g.26460049C>GCA425206452OTOFc.5970G>C (p.Leu1990=)
c.3512+598G>C (n.3512+598G>C)
c.3729G>C (p.Leu1243=)
c.3669G>C (p.Leu1223=)
c.3900G>C (p.Leu1300=)
c.5813+598G>C (n.5813+598G>C)
c.5798+598G>C (n.5798+598G>C)
c.5858+598G>C (n.5858+598G>C)
c.5910G>C (p.Leu1970=)
 gnomAD v4
2g.26460049C>TCA425206453OTOFc.5970G>A (p.Leu1990=)
c.3512+598G>A (n.3512+598G>A)
c.3729G>A (p.Leu1243=)
c.3669G>A (p.Leu1223=)
c.3900G>A (p.Leu1300=)
c.5813+598G>A (n.5813+598G>A)
c.5798+598G>A (n.5798+598G>A)
c.5858+598G>A (n.5858+598G>A)
c.5910G>A (p.Leu1970=)
 ClinVar gnomAD v4
2g.26460050A>CCA346127406OTOFc.5969T>G (p.Leu1990Arg)
c.3512+597T>G (n.3512+597T>G)
c.3728T>G (p.Leu1243Arg)
c.3668T>G (p.Leu1223Arg)
c.3899T>G (p.Leu1300Arg)
c.5813+597T>G (n.5813+597T>G)
c.5798+597T>G (n.5798+597T>G)
c.5858+597T>G (n.5858+597T>G)
c.5909T>G (p.Leu1970Arg)
2g.26460050A>GCA346127407OTOFc.5969T>C (p.Leu1990Pro)
c.3512+597T>C (n.3512+597T>C)
c.3728T>C (p.Leu1243Pro)
c.3668T>C (p.Leu1223Pro)
c.3899T>C (p.Leu1300Pro)
c.5813+597T>C (n.5813+597T>C)
c.5798+597T>C (n.5798+597T>C)
c.5858+597T>C (n.5858+597T>C)
c.5909T>C (p.Leu1970Pro)
 gnomAD v4
2g.26460050A>TCA346127409OTOFc.5969T>A (p.Leu1990Gln)
c.3512+597T>A (n.3512+597T>A)
c.3728T>A (p.Leu1243Gln)
c.3668T>A (p.Leu1223Gln)
c.3899T>A (p.Leu1300Gln)
c.5813+597T>A (n.5813+597T>A)
c.5798+597T>A (n.5798+597T>A)
c.5858+597T>A (n.5858+597T>A)
c.5909T>A (p.Leu1970Gln)
 gnomAD v4
2g.26460051G>ACA425206456OTOFc.5968C>T (p.Leu1990=)
c.3512+596C>T (n.3512+596C>T)
c.3727C>T (p.Leu1243=)
c.3667C>T (p.Leu1223=)
c.3898C>T (p.Leu1300=)
c.5813+596C>T (n.5813+596C>T)
c.5798+596C>T (n.5798+596C>T)
c.5858+596C>T (n.5858+596C>T)
c.5908C>T (p.Leu1970=)
2g.26460051G>CCA346127412OTOFc.5968C>G (p.Leu1990Val)
c.3512+596C>G (n.3512+596C>G)
c.3727C>G (p.Leu1243Val)
c.3667C>G (p.Leu1223Val)
c.3898C>G (p.Leu1300Val)
c.5813+596C>G (n.5813+596C>G)
c.5798+596C>G (n.5798+596C>G)
c.5858+596C>G (n.5858+596C>G)
c.5908C>G (p.Leu1970Val)
2g.26460051G>TCA346127413OTOFc.5968C>A (p.Leu1990Met)
c.3512+596C>A (n.3512+596C>A)
c.3727C>A (p.Leu1243Met)
c.3667C>A (p.Leu1223Met)
c.3898C>A (p.Leu1300Met)
c.5813+596C>A (n.5813+596C>A)
c.5798+596C>A (n.5798+596C>A)
c.5858+596C>A (n.5858+596C>A)
c.5908C>A (p.Leu1970Met)
 gnomAD v4
2g.26460052G>ACA425206461OTOFc.5967C>T (p.Tyr1989=)
c.3512+595C>T (n.3512+595C>T)
c.3726C>T (p.Tyr1242=)
c.3666C>T (p.Tyr1222=)
c.3897C>T (p.Tyr1299=)
c.5813+595C>T (n.5813+595C>T)
c.5798+595C>T (n.5798+595C>T)
c.5858+595C>T (n.5858+595C>T)
c.5907C>T (p.Tyr1969=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.26460052G>CCA346127415OTOFc.5967C>G (p.Tyr1989Ter)
c.3512+595C>G (n.3512+595C>G)
c.3726C>G (p.Tyr1242Ter)
c.3666C>G (p.Tyr1222Ter)
c.3897C>G (p.Tyr1299Ter)
c.5813+595C>G (n.5813+595C>G)
c.5798+595C>G (n.5798+595C>G)
c.5858+595C>G (n.5858+595C>G)
c.5907C>G (p.Tyr1969Ter)
2g.26460052G=CA1239823978OTOFc.5967C= (p.Tyr1989=)
c.3512+595C= (n.3512+595C=)
c.3726C= (p.Tyr1242=)
c.3666C= (p.Tyr1222=)
c.3897C= (p.Tyr1299=)
c.5813+595C= (n.5813+595C=)
c.5798+595C= (n.5798+595C=)
c.5858+595C= (n.5858+595C=)
c.5907C= (p.Tyr1969=)
2g.26460052G>TCA346127416OTOFc.5967C>A (p.Tyr1989Ter)
c.3512+595C>A (n.3512+595C>A)
c.3726C>A (p.Tyr1242Ter)
c.3666C>A (p.Tyr1222Ter)
c.3897C>A (p.Tyr1299Ter)
c.5813+595C>A (n.5813+595C>A)
c.5798+595C>A (n.5798+595C>A)
c.5858+595C>A (n.5858+595C>A)
c.5907C>A (p.Tyr1969Ter)
2g.26460053T>ACA346127417OTOFc.5966A>T (p.Tyr1989Phe)
c.3512+594A>T (n.3512+594A>T)
c.3725A>T (p.Tyr1242Phe)
c.3665A>T (p.Tyr1222Phe)
c.3896A>T (p.Tyr1299Phe)
c.5813+594A>T (n.5813+594A>T)
c.5798+594A>T (n.5798+594A>T)
c.5858+594A>T (n.5858+594A>T)
c.5906A>T (p.Tyr1969Phe)
2g.26460053T>CCA346127423OTOFc.5966A>G (p.Tyr1989Cys)
c.3512+594A>G (n.3512+594A>G)
c.3725A>G (p.Tyr1242Cys)
c.3665A>G (p.Tyr1222Cys)
c.3896A>G (p.Tyr1299Cys)
c.5813+594A>G (n.5813+594A>G)
c.5798+594A>G (n.5798+594A>G)
c.5858+594A>G (n.5858+594A>G)
c.5906A>G (p.Tyr1969Cys)
 dbSNP gnomAD v2 gnomAD v4
2g.26460053T>GCA346127419OTOFc.5966A>C (p.Tyr1989Ser)
c.3512+594A>C (n.3512+594A>C)
c.3725A>C (p.Tyr1242Ser)
c.3665A>C (p.Tyr1222Ser)
c.3896A>C (p.Tyr1299Ser)
c.5813+594A>C (n.5813+594A>C)
c.5798+594A>C (n.5798+594A>C)
c.5858+594A>C (n.5858+594A>C)
c.5906A>C (p.Tyr1969Ser)
2g.26460053T=CA1239823981OTOFc.5966A= (p.Tyr1989=)
c.3512+594A= (n.3512+594A=)
c.3725A= (p.Tyr1242=)
c.3665A= (p.Tyr1222=)
c.3896A= (p.Tyr1299=)
c.5813+594A= (n.5813+594A=)
c.5798+594A= (n.5798+594A=)
c.5858+594A= (n.5858+594A=)
c.5906A= (p.Tyr1969=)
2g.26460054A>CCA346127425OTOFc.5965T>G (p.Tyr1989Asp)
c.3512+593T>G (n.3512+593T>G)
c.3724T>G (p.Tyr1242Asp)
c.3664T>G (p.Tyr1222Asp)
c.3895T>G (p.Tyr1299Asp)
c.5813+593T>G (n.5813+593T>G)
c.5798+593T>G (n.5798+593T>G)
c.5858+593T>G (n.5858+593T>G)
c.5905T>G (p.Tyr1969Asp)
2g.26460054A>GCA346127426OTOFc.5965T>C (p.Tyr1989His)
c.3512+593T>C (n.3512+593T>C)
c.3724T>C (p.Tyr1242His)
c.3664T>C (p.Tyr1222His)
c.3895T>C (p.Tyr1299His)
c.5813+593T>C (n.5813+593T>C)
c.5798+593T>C (n.5798+593T>C)
c.5858+593T>C (n.5858+593T>C)
c.5905T>C (p.Tyr1969His)
 gnomAD v4
2g.26460054A>TCA346127430OTOFc.5965T>A (p.Tyr1989Asn)
c.3512+593T>A (n.3512+593T>A)
c.3724T>A (p.Tyr1242Asn)
c.3664T>A (p.Tyr1222Asn)
c.3895T>A (p.Tyr1299Asn)
c.5813+593T>A (n.5813+593T>A)
c.5798+593T>A (n.5798+593T>A)
c.5858+593T>A (n.5858+593T>A)
c.5905T>A (p.Tyr1969Asn)
2g.26460055G>ACA425206462OTOFc.5964C>T (p.Gly1988=)
c.3512+592C>T (n.3512+592C>T)
c.3723C>T (p.Gly1241=)
c.3663C>T (p.Gly1221=)
c.3894C>T (p.Gly1298=)
c.5813+592C>T (n.5813+592C>T)
c.5798+592C>T (n.5798+592C>T)
c.5858+592C>T (n.5858+592C>T)
c.5904C>T (p.Gly1968=)
2g.26460055G>CCA425206463OTOFc.5964C>G (p.Gly1988=)
c.3512+592C>G (n.3512+592C>G)
c.3723C>G (p.Gly1241=)
c.3663C>G (p.Gly1221=)
c.3894C>G (p.Gly1298=)
c.5813+592C>G (n.5813+592C>G)
c.5798+592C>G (n.5798+592C>G)
c.5858+592C>G (n.5858+592C>G)
c.5904C>G (p.Gly1968=)
 gnomAD v4
2g.26460055G>TCA425206464OTOFc.5964C>A (p.Gly1988=)
c.3512+592C>A (n.3512+592C>A)
c.3723C>A (p.Gly1241=)
c.3663C>A (p.Gly1221=)
c.3894C>A (p.Gly1298=)
c.5813+592C>A (n.5813+592C>A)
c.5798+592C>A (n.5798+592C>A)
c.5858+592C>A (n.5858+592C>A)
c.5904C>A (p.Gly1968=)
 gnomAD v4
2g.26460056C>ACA346127431OTOFc.5963G>T (p.Gly1988Val)
c.3512+591G>T (n.3512+591G>T)
c.3722G>T (p.Gly1241Val)
c.3662G>T (p.Gly1221Val)
c.3893G>T (p.Gly1298Val)
c.5813+591G>T (n.5813+591G>T)
c.5798+591G>T (n.5798+591G>T)
c.5858+591G>T (n.5858+591G>T)
c.5903G>T (p.Gly1968Val)
2g.26460056C>GCA346127432OTOFc.5963G>C (p.Gly1988Ala)
c.3512+591G>C (n.3512+591G>C)
c.3722G>C (p.Gly1241Ala)
c.3662G>C (p.Gly1221Ala)
c.3893G>C (p.Gly1298Ala)
c.5813+591G>C (n.5813+591G>C)
c.5798+591G>C (n.5798+591G>C)
c.5858+591G>C (n.5858+591G>C)
c.5903G>C (p.Gly1968Ala)
2g.26460056C>TCA346127434OTOFc.5963G>A (p.Gly1988Asp)
c.3512+591G>A (n.3512+591G>A)
c.3722G>A (p.Gly1241Asp)
c.3662G>A (p.Gly1221Asp)
c.3893G>A (p.Gly1298Asp)
c.5813+591G>A (n.5813+591G>A)
c.5798+591G>A (n.5798+591G>A)
c.5858+591G>A (n.5858+591G>A)
c.5903G>A (p.Gly1968Asp)
 gnomAD v4
2g.26460057C>ACA346127436OTOFc.5962G>T (p.Gly1988Cys)
c.3512+590G>T (n.3512+590G>T)
c.3721G>T (p.Gly1241Cys)
c.3661G>T (p.Gly1221Cys)
c.3892G>T (p.Gly1298Cys)
c.5813+590G>T (n.5813+590G>T)
c.5798+590G>T (n.5798+590G>T)
c.5858+590G>T (n.5858+590G>T)
c.5902G>T (p.Gly1968Cys)
 gnomAD v4
2g.26460057C=CA1239823983OTOFc.5962G= (p.Gly1988=)
c.3512+590G= (n.3512+590G=)
c.3721G= (p.Gly1241=)
c.3661G= (p.Gly1221=)
c.3892G= (p.Gly1298=)
c.5813+590G= (n.5813+590G=)
c.5798+590G= (n.5798+590G=)
c.5858+590G= (n.5858+590G=)
c.5902G= (p.Gly1968=)
2g.26460057C>GCA346127437OTOFc.5962G>C (p.Gly1988Arg)
c.3512+590G>C (n.3512+590G>C)
c.3721G>C (p.Gly1241Arg)
c.3661G>C (p.Gly1221Arg)
c.3892G>C (p.Gly1298Arg)
c.5813+590G>C (n.5813+590G>C)
c.5798+590G>C (n.5798+590G>C)
c.5858+590G>C (n.5858+590G>C)
c.5902G>C (p.Gly1968Arg)
2g.26460057C>TCA346127439OTOFc.5962G>A (p.Gly1988Ser)
c.3512+590G>A (n.3512+590G>A)
c.3721G>A (p.Gly1241Ser)
c.3661G>A (p.Gly1221Ser)
c.3892G>A (p.Gly1298Ser)
c.5813+590G>A (n.5813+590G>A)
c.5798+590G>A (n.5798+590G>A)
c.5858+590G>A (n.5858+590G>A)
c.5902G>A (p.Gly1968Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.26460058A>CCA425206469OTOFc.5961T>G (p.Pro1987=)
c.3512+589T>G (n.3512+589T>G)
c.3720T>G (p.Pro1240=)
c.3660T>G (p.Pro1220=)
c.3891T>G (p.Pro1297=)
c.5813+589T>G (n.5813+589T>G)
c.5798+589T>G (n.5798+589T>G)
c.5858+589T>G (n.5858+589T>G)
c.5901T>G (p.Pro1967=)
2g.26460058A>GCA425206471OTOFc.5961T>C (p.Pro1987=)
c.3512+589T>C (n.3512+589T>C)
c.3720T>C (p.Pro1240=)
c.3660T>C (p.Pro1220=)
c.3891T>C (p.Pro1297=)
c.5813+589T>C (n.5813+589T>C)
c.5798+589T>C (n.5798+589T>C)
c.5858+589T>C (n.5858+589T>C)
c.5901T>C (p.Pro1967=)
 gnomAD v4
2g.26460058A>TCA425206470OTOFc.5961T>A (p.Pro1987=)
c.3512+589T>A (n.3512+589T>A)
c.3720T>A (p.Pro1240=)
c.3660T>A (p.Pro1220=)
c.3891T>A (p.Pro1297=)
c.5813+589T>A (n.5813+589T>A)
c.5798+589T>A (n.5798+589T>A)
c.5858+589T>A (n.5858+589T>A)
c.5901T>A (p.Pro1967=)
2g.26460059G>ACA346127440OTOFc.5960C>T (p.Pro1987Leu)
c.3512+588C>T (n.3512+588C>T)
c.3719C>T (p.Pro1240Leu)
c.3659C>T (p.Pro1220Leu)
c.3890C>T (p.Pro1297Leu)
c.5813+588C>T (n.5813+588C>T)
c.5798+588C>T (n.5798+588C>T)
c.5858+588C>T (n.5858+588C>T)
c.5900C>T (p.Pro1967Leu)
2g.26460059G>CCA342580OTOFc.5960C>G (p.Pro1987Arg)
c.3512+588C>G (n.3512+588C>G)
c.3719C>G (p.Pro1240Arg)
c.3659C>G (p.Pro1220Arg)
c.3890C>G (p.Pro1297Arg)
c.5813+588C>G (n.5813+588C>G)
c.5798+588C>G (n.5798+588C>G)
c.5858+588C>G (n.5858+588C>G)
c.5900C>G (p.Pro1967Arg)
 ClinVar dbSNP gnomAD v4
2g.26460059G=CA1239823986OTOFc.5960C= (p.Pro1987=)
c.3512+588C= (n.3512+588C=)
c.3719C= (p.Pro1240=)
c.3659C= (p.Pro1220=)
c.3890C= (p.Pro1297=)
c.5813+588C= (n.5813+588C=)
c.5798+588C= (n.5798+588C=)
c.5858+588C= (n.5858+588C=)
c.5900C= (p.Pro1967=)
2g.26460059G>TCA346127443OTOFc.5960C>A (p.Pro1987His)
c.3512+588C>A (n.3512+588C>A)
c.3719C>A (p.Pro1240His)
c.3659C>A (p.Pro1220His)
c.3890C>A (p.Pro1297His)
c.5813+588C>A (n.5813+588C>A)
c.5798+588C>A (n.5798+588C>A)
c.5858+588C>A (n.5858+588C>A)
c.5900C>A (p.Pro1967His)
2g.26460060G>ACA346127454OTOFc.5959C>T (p.Pro1987Ser)
c.3512+587C>T (n.3512+587C>T)
c.3718C>T (p.Pro1240Ser)
c.3658C>T (p.Pro1220Ser)
c.3889C>T (p.Pro1297Ser)
c.5813+587C>T (n.5813+587C>T)
c.5798+587C>T (n.5798+587C>T)
c.5858+587C>T (n.5858+587C>T)
c.5899C>T (p.Pro1967Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.26460060G>CCA346127444OTOFc.5959C>G (p.Pro1987Ala)
c.3512+587C>G (n.3512+587C>G)
c.3718C>G (p.Pro1240Ala)
c.3658C>G (p.Pro1220Ala)
c.3889C>G (p.Pro1297Ala)
c.5813+587C>G (n.5813+587C>G)
c.5798+587C>G (n.5798+587C>G)
c.5858+587C>G (n.5858+587C>G)
c.5899C>G (p.Pro1967Ala)
2g.26460060G=CA1239823988OTOFc.5959C= (p.Pro1987=)
c.3512+587C= (n.3512+587C=)
c.3718C= (p.Pro1240=)
c.3658C= (p.Pro1220=)
c.3889C= (p.Pro1297=)
c.5813+587C= (n.5813+587C=)
c.5798+587C= (n.5798+587C=)
c.5858+587C= (n.5858+587C=)
c.5899C= (p.Pro1967=)
2g.26460060G>TCA346127446OTOFc.5959C>A (p.Pro1987Thr)
c.3512+587C>A (n.3512+587C>A)
c.3718C>A (p.Pro1240Thr)
c.3658C>A (p.Pro1220Thr)
c.3889C>A (p.Pro1297Thr)
c.5813+587C>A (n.5813+587C>A)
c.5798+587C>A (n.5798+587C>A)
c.5858+587C>A (n.5858+587C>A)
c.5899C>A (p.Pro1967Thr)
 gnomAD v4
2g.26460060_26460062delinsGCACA1239823989OTOFc.5957_5959delinsTGC (p.Val1986=)
c.3512+585_3512+587delinsTGC (n.3512+585_3512+587delinsTGC)
c.3716_3718delinsTGC (p.Val1239=)
c.3656_3658delinsTGC (p.Val1219=)
c.3887_3889delinsTGC (p.Val1296=)
c.5813+585_5813+587delinsTGC (n.5813+585_5813+587delinsTGC)
c.5798+585_5798+587delinsTGC (n.5798+585_5798+587delinsTGC)
c.5858+585_5858+587delinsTGC (n.5858+585_5858+587delinsTGC)
c.5897_5899delinsTGC (p.Val1966=)
2g.26460061C>ACA425206474OTOFc.5958G>T (p.Val1986=)
c.3512+586G>T (n.3512+586G>T)
c.3717G>T (p.Val1239=)
c.3657G>T (p.Val1219=)
c.3888G>T (p.Val1296=)
c.5813+586G>T (n.5813+586G>T)
c.5798+586G>T (n.5798+586G>T)
c.5858+586G>T (n.5858+586G>T)
c.5898G>T (p.Val1966=)
 gnomAD v4
2g.26460061C>GCA425206475OTOFc.5958G>C (p.Val1986=)
c.3512+586G>C (n.3512+586G>C)
c.3717G>C (p.Val1239=)
c.3657G>C (p.Val1219=)
c.3888G>C (p.Val1296=)
c.5813+586G>C (n.5813+586G>C)
c.5798+586G>C (n.5798+586G>C)
c.5858+586G>C (n.5858+586G>C)
c.5898G>C (p.Val1966=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.26460061C>TCA425206477OTOFc.5958G>A (p.Val1986=)
c.3512+586G>A (n.3512+586G>A)
c.3717G>A (p.Val1239=)
c.3657G>A (p.Val1219=)
c.3888G>A (p.Val1296=)
c.5813+586G>A (n.5813+586G>A)
c.5798+586G>A (n.5798+586G>A)
c.5858+586G>A (n.5858+586G>A)
c.5898G>A (p.Val1966=)
2g.26460063_26460064delCA1028604312OTOFc.5957_5958del (p.Val1986AlafsTer?)
c.3512+585_3512+586del (n.3512+585_3512+586del)
c.3716_3717del (p.Val1239AlafsTer?)
c.3656_3657del (p.Val1219AlafsTer?)
c.3887_3888del (p.Val1296AlafsTer?)
c.5813+585_5813+586del (n.5813+585_5813+586del)
c.5798+585_5798+586del (n.5798+585_5798+586del)
c.5858+585_5858+586del (n.5858+585_5858+586del)
c.5897_5898del (p.Val1966AlafsTer?)
 dbSNP gnomAD v3 gnomAD v4
2g.26460062A=CA1239823991OTOFc.5957T= (p.Val1986=)
c.3512+585T= (n.3512+585T=)
c.3716T= (p.Val1239=)
c.3656T= (p.Val1219=)
c.3887T= (p.Val1296=)
c.5813+585T= (n.5813+585T=)
c.5798+585T= (n.5798+585T=)
c.5858+585T= (n.5858+585T=)
c.5897T= (p.Val1966=)
2g.26460062A>CCA346127456OTOFc.5957T>G (p.Val1986Gly)
c.3512+585T>G (n.3512+585T>G)
c.3716T>G (p.Val1239Gly)
c.3656T>G (p.Val1219Gly)
c.3887T>G (p.Val1296Gly)
c.5813+585T>G (n.5813+585T>G)
c.5798+585T>G (n.5798+585T>G)
c.5858+585T>G (n.5858+585T>G)
c.5897T>G (p.Val1966Gly)
 COSMIC COSMIC
2g.26460062A>GCA346127457OTOFc.5957T>C (p.Val1986Ala)
c.3512+585T>C (n.3512+585T>C)
c.3716T>C (p.Val1239Ala)
c.3656T>C (p.Val1219Ala)
c.3887T>C (p.Val1296Ala)
c.5813+585T>C (n.5813+585T>C)
c.5798+585T>C (n.5798+585T>C)
c.5858+585T>C (n.5858+585T>C)
c.5897T>C (p.Val1966Ala)
 dbSNP gnomAD v4
2g.26460062A>TCA346127458OTOFc.5957T>A (p.Val1986Glu)
c.3512+585T>A (n.3512+585T>A)
c.3716T>A (p.Val1239Glu)
c.3656T>A (p.Val1219Glu)
c.3887T>A (p.Val1296Glu)
c.5813+585T>A (n.5813+585T>A)
c.5798+585T>A (n.5798+585T>A)
c.5858+585T>A (n.5858+585T>A)
c.5897T>A (p.Val1966Glu)
2g.26460063C>ACA346127460OTOFc.5956G>T (p.Val1986Leu)
c.3512+584G>T (n.3512+584G>T)
c.3715G>T (p.Val1239Leu)
c.3655G>T (p.Val1219Leu)
c.3886G>T (p.Val1296Leu)
c.5813+584G>T (n.5813+584G>T)
c.5798+584G>T (n.5798+584G>T)
c.5858+584G>T (n.5858+584G>T)
c.5896G>T (p.Val1966Leu)
 gnomAD v4
2g.26460063C=CA1239823993OTOFc.5956G= (p.Val1986=)
c.3512+584G= (n.3512+584G=)
c.3715G= (p.Val1239=)
c.3655G= (p.Val1219=)
c.3886G= (p.Val1296=)
c.5813+584G= (n.5813+584G=)
c.5798+584G= (n.5798+584G=)
c.5858+584G= (n.5858+584G=)
c.5896G= (p.Val1966=)
2g.26460063C>GCA44406179OTOFc.5956G>C (p.Val1986Leu)
c.3512+584G>C (n.3512+584G>C)
c.3715G>C (p.Val1239Leu)
c.3655G>C (p.Val1219Leu)
c.3886G>C (p.Val1296Leu)
c.5813+584G>C (n.5813+584G>C)
c.5798+584G>C (n.5798+584G>C)
c.5858+584G>C (n.5858+584G>C)
c.5896G>C (p.Val1966Leu)
 dbSNP gnomAD v2
2g.26460063C>TCA346127462OTOFc.5956G>A (p.Val1986Met)
c.3512+584G>A (n.3512+584G>A)
c.3715G>A (p.Val1239Met)
c.3655G>A (p.Val1219Met)
c.3886G>A (p.Val1296Met)
c.5813+584G>A (n.5813+584G>A)
c.5798+584G>A (n.5798+584G>A)
c.5858+584G>A (n.5858+584G>A)
c.5896G>A (p.Val1966Met)
2g.26460064A>CCA425206479OTOFc.5955T>G (p.Ser1985=)
c.3512+583T>G (n.3512+583T>G)
c.3714T>G (p.Ser1238=)
c.3654T>G (p.Ser1218=)
c.3885T>G (p.Ser1295=)
c.5813+583T>G (n.5813+583T>G)
c.5798+583T>G (n.5798+583T>G)
c.5858+583T>G (n.5858+583T>G)
c.5895T>G (p.Ser1965=)
2g.26460064A>GCA425206480OTOFc.5955T>C (p.Ser1985=)
c.3512+583T>C (n.3512+583T>C)
c.3714T>C (p.Ser1238=)
c.3654T>C (p.Ser1218=)
c.3885T>C (p.Ser1295=)
c.5813+583T>C (n.5813+583T>C)
c.5798+583T>C (n.5798+583T>C)
c.5858+583T>C (n.5858+583T>C)
c.5895T>C (p.Ser1965=)
 gnomAD v4
2g.26460064A>TCA425206481OTOFc.5955T>A (p.Ser1985=)
c.3512+583T>A (n.3512+583T>A)
c.3714T>A (p.Ser1238=)
c.3654T>A (p.Ser1218=)
c.3885T>A (p.Ser1295=)
c.5813+583T>A (n.5813+583T>A)
c.5798+583T>A (n.5798+583T>A)
c.5858+583T>A (n.5858+583T>A)
c.5895T>A (p.Ser1965=)
 gnomAD v4 COSMIC COSMIC
2g.26460065G>ACA346127464OTOFc.5954C>T (p.Ser1985Phe)
c.3512+582C>T (n.3512+582C>T)
c.3713C>T (p.Ser1238Phe)
c.3653C>T (p.Ser1218Phe)
c.3884C>T (p.Ser1295Phe)
c.5813+582C>T (n.5813+582C>T)
c.5798+582C>T (n.5798+582C>T)
c.5858+582C>T (n.5858+582C>T)
c.5894C>T (p.Ser1965Phe)
2g.26460065G>CCA346127465OTOFc.5954C>G (p.Ser1985Cys)
c.3512+582C>G (n.3512+582C>G)
c.3713C>G (p.Ser1238Cys)
c.3653C>G (p.Ser1218Cys)
c.3884C>G (p.Ser1295Cys)
c.5813+582C>G (n.5813+582C>G)
c.5798+582C>G (n.5798+582C>G)
c.5858+582C>G (n.5858+582C>G)
c.5894C>G (p.Ser1965Cys)
 dbSNP
2g.26460065G=CA1239823994OTOFc.5954C= (p.Ser1985=)
c.3512+582C= (n.3512+582C=)
c.3713C= (p.Ser1238=)
c.3653C= (p.Ser1218=)
c.3884C= (p.Ser1295=)
c.5813+582C= (n.5813+582C=)
c.5798+582C= (n.5798+582C=)
c.5858+582C= (n.5858+582C=)
c.5894C= (p.Ser1965=)
2g.26460065G>TCA346127467OTOFc.5954C>A (p.Ser1985Tyr)
c.3512+582C>A (n.3512+582C>A)
c.3713C>A (p.Ser1238Tyr)
c.3653C>A (p.Ser1218Tyr)
c.3884C>A (p.Ser1295Tyr)
c.5813+582C>A (n.5813+582C>A)
c.5798+582C>A (n.5798+582C>A)
c.5858+582C>A (n.5858+582C>A)
c.5894C>A (p.Ser1965Tyr)
 gnomAD v4
2g.26460066A>CCA346127469OTOFc.5953T>G (p.Ser1985Ala)
c.3512+581T>G (n.3512+581T>G)
c.3712T>G (p.Ser1238Ala)
c.3652T>G (p.Ser1218Ala)
c.3883T>G (p.Ser1295Ala)
c.5813+581T>G (n.5813+581T>G)
c.5798+581T>G (n.5798+581T>G)
c.5858+581T>G (n.5858+581T>G)
c.5893T>G (p.Ser1965Ala)
2g.26460066A>GCA346127471OTOFc.5953T>C (p.Ser1985Pro)
c.3512+581T>C (n.3512+581T>C)
c.3712T>C (p.Ser1238Pro)
c.3652T>C (p.Ser1218Pro)
c.3883T>C (p.Ser1295Pro)
c.5813+581T>C (n.5813+581T>C)
c.5798+581T>C (n.5798+581T>C)
c.5858+581T>C (n.5858+581T>C)
c.5893T>C (p.Ser1965Pro)
 gnomAD v4
2g.26460066A>TCA346127472OTOFc.5953T>A (p.Ser1985Thr)
c.3512+581T>A (n.3512+581T>A)
c.3712T>A (p.Ser1238Thr)
c.3652T>A (p.Ser1218Thr)
c.3883T>A (p.Ser1295Thr)
c.5813+581T>A (n.5813+581T>A)
c.5798+581T>A (n.5798+581T>A)
c.5858+581T>A (n.5858+581T>A)
c.5893T>A (p.Ser1965Thr)
2g.26460067G>ACA425206485OTOFc.5952C>T (p.Tyr1984=)
c.3512+580C>T (n.3512+580C>T)
c.3711C>T (p.Tyr1237=)
c.3651C>T (p.Tyr1217=)
c.3882C>T (p.Tyr1294=)
c.5813+580C>T (n.5813+580C>T)
c.5798+580C>T (n.5798+580C>T)
c.5858+580C>T (n.5858+580C>T)
c.5892C>T (p.Tyr1964=)
 ClinVar gnomAD v4
2g.26460067G>CCA346127473OTOFc.5952C>G (p.Tyr1984Ter)
c.3512+580C>G (n.3512+580C>G)
c.3711C>G (p.Tyr1237Ter)
c.3651C>G (p.Tyr1217Ter)
c.3882C>G (p.Tyr1294Ter)
c.5813+580C>G (n.5813+580C>G)
c.5798+580C>G (n.5798+580C>G)
c.5858+580C>G (n.5858+580C>G)
c.5892C>G (p.Tyr1964Ter)
2g.26460067G>TCA346127475OTOFc.5952C>A (p.Tyr1984Ter)
c.3512+580C>A (n.3512+580C>A)
c.3711C>A (p.Tyr1237Ter)
c.3651C>A (p.Tyr1217Ter)
c.3882C>A (p.Tyr1294Ter)
c.5813+580C>A (n.5813+580C>A)
c.5798+580C>A (n.5798+580C>A)
c.5858+580C>A (n.5858+580C>A)
c.5892C>A (p.Tyr1964Ter)
 gnomAD v4
2g.26460068T>ACA346127477OTOFc.5951A>T (p.Tyr1984Phe)
c.3512+579A>T (n.3512+579A>T)
c.3710A>T (p.Tyr1237Phe)
c.3650A>T (p.Tyr1217Phe)
c.3881A>T (p.Tyr1294Phe)
c.5813+579A>T (n.5813+579A>T)
c.5798+579A>T (n.5798+579A>T)
c.5858+579A>T (n.5858+579A>T)
c.5891A>T (p.Tyr1964Phe)
2g.26460068T>CCA346127479OTOFc.5951A>G (p.Tyr1984Cys)
c.3512+579A>G (n.3512+579A>G)
c.3710A>G (p.Tyr1237Cys)
c.3650A>G (p.Tyr1217Cys)
c.3881A>G (p.Tyr1294Cys)
c.5813+579A>G (n.5813+579A>G)
c.5798+579A>G (n.5798+579A>G)
c.5858+579A>G (n.5858+579A>G)
c.5891A>G (p.Tyr1964Cys)
2g.26460068T>GCA346127480OTOFc.5951A>C (p.Tyr1984Ser)
c.3512+579A>C (n.3512+579A>C)
c.3710A>C (p.Tyr1237Ser)
c.3650A>C (p.Tyr1217Ser)
c.3881A>C (p.Tyr1294Ser)
c.5813+579A>C (n.5813+579A>C)
c.5798+579A>C (n.5798+579A>C)
c.5858+579A>C (n.5858+579A>C)
c.5891A>C (p.Tyr1964Ser)
2g.26460069A>CCA346127481OTOFc.5950T>G (p.Tyr1984Asp)
c.3512+578T>G (n.3512+578T>G)
c.3709T>G (p.Tyr1237Asp)
c.3649T>G (p.Tyr1217Asp)
c.3880T>G (p.Tyr1294Asp)
c.5813+578T>G (n.5813+578T>G)
c.5798+578T>G (n.5798+578T>G)
c.5858+578T>G (n.5858+578T>G)
c.5890T>G (p.Tyr1964Asp)
2g.26460069A>GCA346127483OTOFc.5950T>C (p.Tyr1984His)
c.3512+578T>C (n.3512+578T>C)
c.3709T>C (p.Tyr1237His)
c.3649T>C (p.Tyr1217His)
c.3880T>C (p.Tyr1294His)
c.5813+578T>C (n.5813+578T>C)
c.5798+578T>C (n.5798+578T>C)
c.5858+578T>C (n.5858+578T>C)
c.5890T>C (p.Tyr1964His)
 gnomAD v4
2g.26460069A>TCA346127484OTOFc.5950T>A (p.Tyr1984Asn)
c.3512+578T>A (n.3512+578T>A)
c.3709T>A (p.Tyr1237Asn)
c.3649T>A (p.Tyr1217Asn)
c.3880T>A (p.Tyr1294Asn)
c.5813+578T>A (n.5813+578T>A)
c.5798+578T>A (n.5798+578T>A)
c.5858+578T>A (n.5858+578T>A)
c.5890T>A (p.Tyr1964Asn)
2g.26460071_26460072delCA2658232652OTOFc.5949_5950del (p.Tyr1984LeufsTer?)
c.3512+577_3512+578del (n.3512+577_3512+578del)
c.3708_3709del (p.Tyr1237LeufsTer?)
c.3648_3649del (p.Tyr1217LeufsTer?)
c.3879_3880del (p.Tyr1294LeufsTer?)
c.5813+577_5813+578del (n.5813+577_5813+578del)
c.5798+577_5798+578del (n.5798+577_5798+578del)
c.5858+577_5858+578del (n.5858+577_5858+578del)
c.5889_5890del (p.Tyr1964LeufsTer?)
 gnomAD v4
2g.26460070G>ACA425206487OTOFc.5949C>T (p.Leu1983=)
c.3512+577C>T (n.3512+577C>T)
c.3708C>T (p.Leu1236=)
c.3648C>T (p.Leu1216=)
c.3879C>T (p.Leu1293=)
c.5813+577C>T (n.5813+577C>T)
c.5798+577C>T (n.5798+577C>T)
c.5858+577C>T (n.5858+577C>T)
c.5889C>T (p.Leu1963=)
2g.26460070G>CCA425206488OTOFc.5949C>G (p.Leu1983=)
c.3512+577C>G (n.3512+577C>G)
c.3708C>G (p.Leu1236=)
c.3648C>G (p.Leu1216=)
c.3879C>G (p.Leu1293=)
c.5813+577C>G (n.5813+577C>G)
c.5798+577C>G (n.5798+577C>G)
c.5858+577C>G (n.5858+577C>G)
c.5889C>G (p.Leu1963=)
2g.26460070G>TCA425206489OTOFc.5949C>A (p.Leu1983=)
c.3512+577C>A (n.3512+577C>A)
c.3708C>A (p.Leu1236=)
c.3648C>A (p.Leu1216=)
c.3879C>A (p.Leu1293=)
c.5813+577C>A (n.5813+577C>A)
c.5798+577C>A (n.5798+577C>A)
c.5858+577C>A (n.5858+577C>A)
c.5889C>A (p.Leu1963=)
2g.26460071A>CCA346127488OTOFc.5948T>G (p.Leu1983Arg)
c.3512+576T>G (n.3512+576T>G)
c.3707T>G (p.Leu1236Arg)
c.3647T>G (p.Leu1216Arg)
c.3878T>G (p.Leu1293Arg)
c.5813+576T>G (n.5813+576T>G)
c.5798+576T>G (n.5798+576T>G)
c.5858+576T>G (n.5858+576T>G)
c.5888T>G (p.Leu1963Arg)
2g.26460071A>GCA346127485OTOFc.5948T>C (p.Leu1983Pro)
c.3512+576T>C (n.3512+576T>C)
c.3707T>C (p.Leu1236Pro)
c.3647T>C (p.Leu1216Pro)
c.3878T>C (p.Leu1293Pro)
c.5813+576T>C (n.5813+576T>C)
c.5798+576T>C (n.5798+576T>C)
c.5858+576T>C (n.5858+576T>C)
c.5888T>C (p.Leu1963Pro)
 gnomAD v4
2g.26460071A>TCA346127487OTOFc.5948T>A (p.Leu1983His)
c.3512+576T>A (n.3512+576T>A)
c.3707T>A (p.Leu1236His)
c.3647T>A (p.Leu1216His)
c.3878T>A (p.Leu1293His)
c.5813+576T>A (n.5813+576T>A)
c.5798+576T>A (n.5798+576T>A)
c.5858+576T>A (n.5858+576T>A)
c.5888T>A (p.Leu1963His)
2g.26460072G>ACA346127490OTOFc.5947C>T (p.Leu1983Phe)
c.3512+575C>T (n.3512+575C>T)
c.3706C>T (p.Leu1236Phe)
c.3646C>T (p.Leu1216Phe)
c.3877C>T (p.Leu1293Phe)
c.5813+575C>T (n.5813+575C>T)
c.5798+575C>T (n.5798+575C>T)
c.5858+575C>T (n.5858+575C>T)
c.5887C>T (p.Leu1963Phe)
 gnomAD v4
2g.26460072G>CCA346127491OTOFc.5947C>G (p.Leu1983Val)
c.3512+575C>G (n.3512+575C>G)
c.3706C>G (p.Leu1236Val)
c.3646C>G (p.Leu1216Val)
c.3877C>G (p.Leu1293Val)
c.5813+575C>G (n.5813+575C>G)
c.5798+575C>G (n.5798+575C>G)
c.5858+575C>G (n.5858+575C>G)
c.5887C>G (p.Leu1963Val)
2g.26460072G>TCA346127492OTOFc.5947C>A (p.Leu1983Ile)
c.3512+575C>A (n.3512+575C>A)
c.3706C>A (p.Leu1236Ile)
c.3646C>A (p.Leu1216Ile)
c.3877C>A (p.Leu1293Ile)
c.5813+575C>A (n.5813+575C>A)
c.5798+575C>A (n.5798+575C>A)
c.5858+575C>A (n.5858+575C>A)
c.5887C>A (p.Leu1963Ile)
 gnomAD v4
2g.26460073delCA2658232653OTOFc.5947del (p.Leu1983SerfsTer?)
c.3512+575del (n.3512+575del)
c.3706del (p.Leu1236SerfsTer?)
c.3646del (p.Leu1216SerfsTer?)
c.3877del (p.Leu1293SerfsTer?)
c.5813+575del (n.5813+575del)
c.5798+575del (n.5798+575del)
c.5858+575del (n.5858+575del)
c.5887del (p.Leu1963SerfsTer?)
 gnomAD v4
2g.26460073G>ACA425206494OTOFc.5946C>T (p.Phe1982=)
c.3512+574C>T (n.3512+574C>T)
c.3705C>T (p.Phe1235=)
c.3645C>T (p.Phe1215=)
c.3876C>T (p.Phe1292=)
c.5813+574C>T (n.5813+574C>T)
c.5798+574C>T (n.5798+574C>T)
c.5858+574C>T (n.5858+574C>T)
c.5886C>T (p.Phe1962=)
2g.26460073G>CCA346127493OTOFc.5946C>G (p.Phe1982Leu)
c.3512+574C>G (n.3512+574C>G)
c.3705C>G (p.Phe1235Leu)
c.3645C>G (p.Phe1215Leu)
c.3876C>G (p.Phe1292Leu)
c.5813+574C>G (n.5813+574C>G)
c.5798+574C>G (n.5798+574C>G)
c.5858+574C>G (n.5858+574C>G)
c.5886C>G (p.Phe1962Leu)
2g.26460073G>TCA346127495OTOFc.5946C>A (p.Phe1982Leu)
c.3512+574C>A (n.3512+574C>A)
c.3705C>A (p.Phe1235Leu)
c.3645C>A (p.Phe1215Leu)
c.3876C>A (p.Phe1292Leu)
c.5813+574C>A (n.5813+574C>A)
c.5798+574C>A (n.5798+574C>A)
c.5858+574C>A (n.5858+574C>A)
c.5886C>A (p.Phe1962Leu)
2g.26460074A=CA1239823996OTOFc.5945T= (p.Phe1982=)
c.3512+573T= (n.3512+573T=)
c.3704T= (p.Phe1235=)
c.3644T= (p.Phe1215=)
c.3875T= (p.Phe1292=)
c.5813+573T= (n.5813+573T=)
c.5798+573T= (n.5798+573T=)
c.5858+573T= (n.5858+573T=)
c.5885T= (p.Phe1962=)
2g.26460074A>CCA346127496OTOFc.5945T>G (p.Phe1982Cys)
c.3512+573T>G (n.3512+573T>G)
c.3704T>G (p.Phe1235Cys)
c.3644T>G (p.Phe1215Cys)
c.3875T>G (p.Phe1292Cys)
c.5813+573T>G (n.5813+573T>G)
c.5798+573T>G (n.5798+573T>G)
c.5858+573T>G (n.5858+573T>G)
c.5885T>G (p.Phe1962Cys)
2g.26460074A>GCA346127499OTOFc.5945T>C (p.Phe1982Ser)
c.3512+573T>C (n.3512+573T>C)
c.3704T>C (p.Phe1235Ser)
c.3644T>C (p.Phe1215Ser)
c.3875T>C (p.Phe1292Ser)
c.5813+573T>C (n.5813+573T>C)
c.5798+573T>C (n.5798+573T>C)
c.5858+573T>C (n.5858+573T>C)
c.5885T>C (p.Phe1962Ser)
 dbSNP
2g.26460074A>TCA346127498OTOFc.5945T>A (p.Phe1982Tyr)
c.3512+573T>A (n.3512+573T>A)
c.3704T>A (p.Phe1235Tyr)
c.3644T>A (p.Phe1215Tyr)
c.3875T>A (p.Phe1292Tyr)
c.5813+573T>A (n.5813+573T>A)
c.5798+573T>A (n.5798+573T>A)
c.5858+573T>A (n.5858+573T>A)
c.5885T>A (p.Phe1962Tyr)
2g.26460075A>CCA346127500OTOFc.5944T>G (p.Phe1982Val)
c.3512+572T>G (n.3512+572T>G)
c.3703T>G (p.Phe1235Val)
c.3643T>G (p.Phe1215Val)
c.3874T>G (p.Phe1292Val)
c.5813+572T>G (n.5813+572T>G)
c.5798+572T>G (n.5798+572T>G)
c.5858+572T>G (n.5858+572T>G)
c.5884T>G (p.Phe1962Val)
2g.26460075A>GCA346127502OTOFc.5944T>C (p.Phe1982Leu)
c.3512+572T>C (n.3512+572T>C)
c.3703T>C (p.Phe1235Leu)
c.3643T>C (p.Phe1215Leu)
c.3874T>C (p.Phe1292Leu)
c.5813+572T>C (n.5813+572T>C)
c.5798+572T>C (n.5798+572T>C)
c.5858+572T>C (n.5858+572T>C)
c.5884T>C (p.Phe1962Leu)
 gnomAD v4
2g.26460075A>TCA346127504OTOFc.5944T>A (p.Phe1982Ile)
c.3512+572T>A (n.3512+572T>A)
c.3703T>A (p.Phe1235Ile)
c.3643T>A (p.Phe1215Ile)
c.3874T>A (p.Phe1292Ile)
c.5813+572T>A (n.5813+572T>A)
c.5798+572T>A (n.5798+572T>A)
c.5858+572T>A (n.5858+572T>A)
c.5884T>A (p.Phe1962Ile)
2g.26460076C>ACA425206495OTOFc.5943G>T (p.Leu1981=)
c.3512+571G>T (n.3512+571G>T)
c.3702G>T (p.Leu1234=)
c.3642G>T (p.Leu1214=)
c.3873G>T (p.Leu1291=)
c.5813+571G>T (n.5813+571G>T)
c.5798+571G>T (n.5798+571G>T)
c.5858+571G>T (n.5858+571G>T)
c.5883G>T (p.Leu1961=)
 gnomAD v4
2g.26460076C=CA1239823997OTOFc.5943G= (p.Leu1981=)
c.3512+571G= (n.3512+571G=)
c.3702G= (p.Leu1234=)
c.3642G= (p.Leu1214=)
c.3873G= (p.Leu1291=)
c.5813+571G= (n.5813+571G=)
c.5798+571G= (n.5798+571G=)
c.5858+571G= (n.5858+571G=)
c.5883G= (p.Leu1961=)
2g.26460076C>GCA425206496OTOFc.5943G>C (p.Leu1981=)
c.3512+571G>C (n.3512+571G>C)
c.3702G>C (p.Leu1234=)
c.3642G>C (p.Leu1214=)
c.3873G>C (p.Leu1291=)
c.5813+571G>C (n.5813+571G>C)
c.5798+571G>C (n.5798+571G>C)
c.5858+571G>C (n.5858+571G>C)
c.5883G>C (p.Leu1961=)
2g.26460076C>TCA44406184OTOFc.5943G>A (p.Leu1981=)
c.3512+571G>A (n.3512+571G>A)
c.3702G>A (p.Leu1234=)
c.3642G>A (p.Leu1214=)
c.3873G>A (p.Leu1291=)
c.5813+571G>A (n.5813+571G>A)
c.5798+571G>A (n.5798+571G>A)
c.5858+571G>A (n.5858+571G>A)
c.5883G>A (p.Leu1961=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26460077A=CA1239823999OTOFc.5942T= (p.Leu1981=)
c.3512+570T= (n.3512+570T=)
c.3701T= (p.Leu1234=)
c.3641T= (p.Leu1214=)
c.3872T= (p.Leu1291=)
c.5813+570T= (n.5813+570T=)
c.5798+570T= (n.5798+570T=)
c.5858+570T= (n.5858+570T=)
c.5882T= (p.Leu1961=)
2g.26460077A>CCA1562651OTOFc.5942T>G (p.Leu1981Arg)
c.3512+570T>G (n.3512+570T>G)
c.3701T>G (p.Leu1234Arg)
c.3641T>G (p.Leu1214Arg)
c.3872T>G (p.Leu1291Arg)
c.5813+570T>G (n.5813+570T>G)
c.5798+570T>G (n.5798+570T>G)
c.5858+570T>G (n.5858+570T>G)
c.5882T>G (p.Leu1961Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26460077A>GCA346127505OTOFc.5942T>C (p.Leu1981Pro)
c.3512+570T>C (n.3512+570T>C)
c.3701T>C (p.Leu1234Pro)
c.3641T>C (p.Leu1214Pro)
c.3872T>C (p.Leu1291Pro)
c.5813+570T>C (n.5813+570T>C)
c.5798+570T>C (n.5798+570T>C)
c.5858+570T>C (n.5858+570T>C)
c.5882T>C (p.Leu1961Pro)
 dbSNP gnomAD v4
2g.26460077A>TCA346127506OTOFc.5942T>A (p.Leu1981Gln)
c.3512+570T>A (n.3512+570T>A)
c.3701T>A (p.Leu1234Gln)
c.3641T>A (p.Leu1214Gln)
c.3872T>A (p.Leu1291Gln)
c.5813+570T>A (n.5813+570T>A)
c.5798+570T>A (n.5798+570T>A)
c.5858+570T>A (n.5858+570T>A)
c.5882T>A (p.Leu1961Gln)
2g.26460078G>ACA425206497OTOFc.5941C>T (p.Leu1981=)
c.3512+569C>T (n.3512+569C>T)
c.3700C>T (p.Leu1234=)
c.3640C>T (p.Leu1214=)
c.3871C>T (p.Leu1291=)
c.5813+569C>T (n.5813+569C>T)
c.5798+569C>T (n.5798+569C>T)
c.5858+569C>T (n.5858+569C>T)
c.5881C>T (p.Leu1961=)
 ClinVar gnomAD v4
2g.26460078G>CCA346127508OTOFc.5941C>G (p.Leu1981Val)
c.3512+569C>G (n.3512+569C>G)
c.3700C>G (p.Leu1234Val)
c.3640C>G (p.Leu1214Val)
c.3871C>G (p.Leu1291Val)
c.5813+569C>G (n.5813+569C>G)
c.5798+569C>G (n.5798+569C>G)
c.5858+569C>G (n.5858+569C>G)
c.5881C>G (p.Leu1961Val)
 dbSNP
2g.26460078G=CA1239824001OTOFc.5941C= (p.Leu1981=)
c.3512+569C= (n.3512+569C=)
c.3700C= (p.Leu1234=)
c.3640C= (p.Leu1214=)
c.3871C= (p.Leu1291=)
c.5813+569C= (n.5813+569C=)
c.5798+569C= (n.5798+569C=)
c.5858+569C= (n.5858+569C=)
c.5881C= (p.Leu1961=)
2g.26460078G>TCA346127509OTOFc.5941C>A (p.Leu1981Met)
c.3512+569C>A (n.3512+569C>A)
c.3700C>A (p.Leu1234Met)
c.3640C>A (p.Leu1214Met)
c.3871C>A (p.Leu1291Met)
c.5813+569C>A (n.5813+569C>A)
c.5798+569C>A (n.5798+569C>A)
c.5858+569C>A (n.5858+569C>A)
c.5881C>A (p.Leu1961Met)
 gnomAD v4
2g.26460079G>ACA425206501OTOFc.5940C>T (p.Ala1980=)
c.3512+568C>T (n.3512+568C>T)
c.3699C>T (p.Ala1233=)
c.3639C>T (p.Ala1213=)
c.3870C>T (p.Ala1290=)
c.5813+568C>T (n.5813+568C>T)
c.5798+568C>T (n.5798+568C>T)
c.5858+568C>T (n.5858+568C>T)
c.5880C>T (p.Ala1960=)
 ClinVar dbSNP gnomAD v2
2g.26460079G>CCA425206500OTOFc.5940C>G (p.Ala1980=)
c.3512+568C>G (n.3512+568C>G)
c.3699C>G (p.Ala1233=)
c.3639C>G (p.Ala1213=)
c.3870C>G (p.Ala1290=)
c.5813+568C>G (n.5813+568C>G)
c.5798+568C>G (n.5798+568C>G)
c.5858+568C>G (n.5858+568C>G)
c.5880C>G (p.Ala1960=)
 ClinVar
2g.26460079G=CA1239824003OTOFc.5940C= (p.Ala1980=)
c.3512+568C= (n.3512+568C=)
c.3699C= (p.Ala1233=)
c.3639C= (p.Ala1213=)
c.3870C= (p.Ala1290=)
c.5813+568C= (n.5813+568C=)
c.5798+568C= (n.5798+568C=)
c.5858+568C= (n.5858+568C=)
c.5880C= (p.Ala1960=)
2g.26460079G>TCA425206499OTOFc.5940C>A (p.Ala1980=)
c.3512+568C>A (n.3512+568C>A)
c.3699C>A (p.Ala1233=)
c.3639C>A (p.Ala1213=)
c.3870C>A (p.Ala1290=)
c.5813+568C>A (n.5813+568C>A)
c.5798+568C>A (n.5798+568C>A)
c.5858+568C>A (n.5858+568C>A)
c.5880C>A (p.Ala1960=)
2g.26460080G>ACA346127511OTOFc.5939C>T (p.Ala1980Val)
c.3512+567C>T (n.3512+567C>T)
c.3698C>T (p.Ala1233Val)
c.3638C>T (p.Ala1213Val)
c.3869C>T (p.Ala1290Val)
c.5813+567C>T (n.5813+567C>T)
c.5798+567C>T (n.5798+567C>T)
c.5858+567C>T (n.5858+567C>T)
c.5879C>T (p.Ala1960Val)
2g.26460080G>CCA346127513OTOFc.5939C>G (p.Ala1980Gly)
c.3512+567C>G (n.3512+567C>G)
c.3698C>G (p.Ala1233Gly)
c.3638C>G (p.Ala1213Gly)
c.3869C>G (p.Ala1290Gly)
c.5813+567C>G (n.5813+567C>G)
c.5798+567C>G (n.5798+567C>G)
c.5858+567C>G (n.5858+567C>G)
c.5879C>G (p.Ala1960Gly)
2g.26460080G>TCA346127514OTOFc.5939C>A (p.Ala1980Asp)
c.3512+567C>A (n.3512+567C>A)
c.3698C>A (p.Ala1233Asp)
c.3638C>A (p.Ala1213Asp)
c.3869C>A (p.Ala1290Asp)
c.5813+567C>A (n.5813+567C>A)
c.5798+567C>A (n.5798+567C>A)
c.5858+567C>A (n.5858+567C>A)
c.5879C>A (p.Ala1960Asp)
 gnomAD v4
2g.26460081C>ACA1562652OTOFc.5938G>T (p.Ala1980Ser)
c.3512+566G>T (n.3512+566G>T)
c.3697G>T (p.Ala1233Ser)
c.3637G>T (p.Ala1213Ser)
c.3868G>T (p.Ala1290Ser)
c.5813+566G>T (n.5813+566G>T)
c.5798+566G>T (n.5798+566G>T)
c.5858+566G>T (n.5858+566G>T)
c.5878G>T (p.Ala1960Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26460081C=CA1239824006OTOFc.5938G= (p.Ala1980=)
c.3512+566G= (n.3512+566G=)
c.3697G= (p.Ala1233=)
c.3637G= (p.Ala1213=)
c.3868G= (p.Ala1290=)
c.5813+566G= (n.5813+566G=)
c.5798+566G= (n.5798+566G=)
c.5858+566G= (n.5858+566G=)
c.5878G= (p.Ala1960=)
2g.26460081C>GCA346127516OTOFc.5938G>C (p.Ala1980Pro)
c.3512+566G>C (n.3512+566G>C)
c.3697G>C (p.Ala1233Pro)
c.3637G>C (p.Ala1213Pro)
c.3868G>C (p.Ala1290Pro)
c.5813+566G>C (n.5813+566G>C)
c.5798+566G>C (n.5798+566G>C)
c.5858+566G>C (n.5858+566G>C)
c.5878G>C (p.Ala1960Pro)
2g.26460081C>TCA1562653OTOFc.5938G>A (p.Ala1980Thr)
c.3512+566G>A (n.3512+566G>A)
c.3697G>A (p.Ala1233Thr)
c.3637G>A (p.Ala1213Thr)
c.3868G>A (p.Ala1290Thr)
c.5813+566G>A (n.5813+566G>A)
c.5798+566G>A (n.5798+566G>A)
c.5858+566G>A (n.5858+566G>A)
c.5878G>A (p.Ala1960Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26460081_26460084delinsCGAGCA1239824005OTOFc.5935_5938delinsCTCG (p.Leu1979=)
c.3512+563_3512+566delinsCTCG (n.3512+563_3512+566delinsCTCG)
c.3694_3697delinsCTCG (p.Leu1232=)
c.3634_3637delinsCTCG (p.Leu1212=)
c.3865_3868delinsCTCG (p.Leu1289=)
c.5813+563_5813+566delinsCTCG (n.5813+563_5813+566delinsCTCG)
c.5798+563_5798+566delinsCTCG (n.5798+563_5798+566delinsCTCG)
c.5858+563_5858+566delinsCTCG (n.5858+563_5858+566delinsCTCG)
c.5875_5878delinsCTCG (p.Leu1959=)
2g.26460082G>ACA1562654OTOFc.5937C>T (p.Leu1979=)
c.3512+565C>T (n.3512+565C>T)
c.3696C>T (p.Leu1232=)
c.3636C>T (p.Leu1212=)
c.3867C>T (p.Leu1289=)
c.5813+565C>T (n.5813+565C>T)
c.5798+565C>T (n.5798+565C>T)
c.5858+565C>T (n.5858+565C>T)
c.5877C>T (p.Leu1959=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26460082G>CCA425206503OTOFc.5937C>G (p.Leu1979=)
c.3512+565C>G (n.3512+565C>G)
c.3696C>G (p.Leu1232=)
c.3636C>G (p.Leu1212=)
c.3867C>G (p.Leu1289=)
c.5813+565C>G (n.5813+565C>G)
c.5798+565C>G (n.5798+565C>G)
c.5858+565C>G (n.5858+565C>G)
c.5877C>G (p.Leu1959=)
2g.26460082G=CA1239824010OTOFc.5937C= (p.Leu1979=)
c.3512+565C= (n.3512+565C=)
c.3696C= (p.Leu1232=)
c.3636C= (p.Leu1212=)
c.3867C= (p.Leu1289=)
c.5813+565C= (n.5813+565C=)
c.5798+565C= (n.5798+565C=)
c.5858+565C= (n.5858+565C=)
c.5877C= (p.Leu1959=)
2g.26460082G>TCA44406188OTOFc.5937C>A (p.Leu1979=)
c.3512+565C>A (n.3512+565C>A)
c.3696C>A (p.Leu1232=)
c.3636C>A (p.Leu1212=)
c.3867C>A (p.Leu1289=)
c.5813+565C>A (n.5813+565C>A)
c.5798+565C>A (n.5798+565C>A)
c.5858+565C>A (n.5858+565C>A)
c.5877C>A (p.Leu1959=)
 dbSNP gnomAD v2 gnomAD v4
2g.26460091_26460093dupCA2658232654OTOFc.5935_5937dup (p.Leu1979_Ala1980insLeu)
c.3512+563_3512+565dup (n.3512+563_3512+565dup)
c.3694_3696dup (p.Leu1232_Ala1233insLeu)
c.3634_3636dup (p.Leu1212_Ala1213insLeu)
c.3865_3867dup (p.Leu1289_Ala1290insLeu)
c.5813+563_5813+565dup (n.5813+563_5813+565dup)
c.5798+563_5798+565dup (n.5798+563_5798+565dup)
c.5858+563_5858+565dup (n.5858+563_5858+565dup)
c.5875_5877dup (p.Leu1959_Ala1960insLeu)
 gnomAD v4
2g.26460091_26460093delCA531761761OTOFc.5935_5937del (p.Leu1979del)
c.3512+563_3512+565del (n.3512+563_3512+565del)
c.3694_3696del (p.Leu1232del)
c.3634_3636del (p.Leu1212del)
c.3865_3867del (p.Leu1289del)
c.5813+563_5813+565del (n.5813+563_5813+565del)
c.5798+563_5798+565del (n.5798+563_5798+565del)
c.5858+563_5858+565del (n.5858+563_5858+565del)
c.5875_5877del (p.Leu1959del)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.26460083A>CCA346127523OTOFc.5936T>G (p.Leu1979Arg)
c.3512+564T>G (n.3512+564T>G)
c.3695T>G (p.Leu1232Arg)
c.3635T>G (p.Leu1212Arg)
c.3866T>G (p.Leu1289Arg)
c.5813+564T>G (n.5813+564T>G)
c.5798+564T>G (n.5798+564T>G)
c.5858+564T>G (n.5858+564T>G)
c.5876T>G (p.Leu1959Arg)
2g.26460083A>GCA346127519OTOFc.5936T>C (p.Leu1979Pro)
c.3512+564T>C (n.3512+564T>C)
c.3695T>C (p.Leu1232Pro)
c.3635T>C (p.Leu1212Pro)
c.3866T>C (p.Leu1289Pro)
c.5813+564T>C (n.5813+564T>C)
c.5798+564T>C (n.5798+564T>C)
c.5858+564T>C (n.5858+564T>C)
c.5876T>C (p.Leu1959Pro)
2g.26460083A>TCA346127521OTOFc.5936T>A (p.Leu1979His)
c.3512+564T>A (n.3512+564T>A)
c.3695T>A (p.Leu1232His)
c.3635T>A (p.Leu1212His)
c.3866T>A (p.Leu1289His)
c.5813+564T>A (n.5813+564T>A)
c.5798+564T>A (n.5798+564T>A)
c.5858+564T>A (n.5858+564T>A)
c.5876T>A (p.Leu1959His)
2g.26460084G>ACA346127524OTOFc.5935C>T (p.Leu1979Phe)
c.3512+563C>T (n.3512+563C>T)
c.3694C>T (p.Leu1232Phe)
c.3634C>T (p.Leu1212Phe)
c.3865C>T (p.Leu1289Phe)
c.5813+563C>T (n.5813+563C>T)
c.5798+563C>T (n.5798+563C>T)
c.5858+563C>T (n.5858+563C>T)
c.5875C>T (p.Leu1959Phe)
 gnomAD v4
2g.26460084G>CCA346127526OTOFc.5935C>G (p.Leu1979Val)
c.3512+563C>G (n.3512+563C>G)
c.3694C>G (p.Leu1232Val)
c.3634C>G (p.Leu1212Val)
c.3865C>G (p.Leu1289Val)
c.5813+563C>G (n.5813+563C>G)
c.5798+563C>G (n.5798+563C>G)
c.5858+563C>G (n.5858+563C>G)
c.5875C>G (p.Leu1959Val)
2g.26460084G>TCA346127527OTOFc.5935C>A (p.Leu1979Ile)
c.3512+563C>A (n.3512+563C>A)
c.3694C>A (p.Leu1232Ile)
c.3634C>A (p.Leu1212Ile)
c.3865C>A (p.Leu1289Ile)
c.5813+563C>A (n.5813+563C>A)
c.5798+563C>A (n.5798+563C>A)
c.5858+563C>A (n.5858+563C>A)
c.5875C>A (p.Leu1959Ile)
 gnomAD v4
2g.26460085G>ACA44406189OTOFc.5934C>T (p.Leu1978=)
c.3512+562C>T (n.3512+562C>T)
c.3693C>T (p.Leu1231=)
c.3633C>T (p.Leu1211=)
c.3864C>T (p.Leu1288=)
c.5813+562C>T (n.5813+562C>T)
c.5798+562C>T (n.5798+562C>T)
c.5858+562C>T (n.5858+562C>T)
c.5874C>T (p.Leu1958=)
 dbSNP
2g.26460085G>CCA44406190OTOFc.5934C>G (p.Leu1978=)
c.3512+562C>G (n.3512+562C>G)
c.3693C>G (p.Leu1231=)
c.3633C>G (p.Leu1211=)
c.3864C>G (p.Leu1288=)
c.5813+562C>G (n.5813+562C>G)
c.5798+562C>G (n.5798+562C>G)
c.5858+562C>G (n.5858+562C>G)
c.5874C>G (p.Leu1958=)
 dbSNP
2g.26460085G=CA1239824013OTOFc.5934C= (p.Leu1978=)
c.3512+562C= (n.3512+562C=)
c.3693C= (p.Leu1231=)
c.3633C= (p.Leu1211=)
c.3864C= (p.Leu1288=)
c.5813+562C= (n.5813+562C=)
c.5798+562C= (n.5798+562C=)
c.5858+562C= (n.5858+562C=)
c.5874C= (p.Leu1958=)
2g.26460085G>TCA425206508OTOFc.5934C>A (p.Leu1978=)
c.3512+562C>A (n.3512+562C>A)
c.3693C>A (p.Leu1231=)
c.3633C>A (p.Leu1211=)
c.3864C>A (p.Leu1288=)
c.5813+562C>A (n.5813+562C>A)
c.5798+562C>A (n.5798+562C>A)
c.5858+562C>A (n.5858+562C>A)
c.5874C>A (p.Leu1958=)
2g.26460086A>CCA346127532OTOFc.5933T>G (p.Leu1978Arg)
c.3512+561T>G (n.3512+561T>G)
c.3692T>G (p.Leu1231Arg)
c.3632T>G (p.Leu1211Arg)
c.3863T>G (p.Leu1288Arg)
c.5813+561T>G (n.5813+561T>G)
c.5798+561T>G (n.5798+561T>G)
c.5858+561T>G (n.5858+561T>G)
c.5873T>G (p.Leu1958Arg)
2g.26460086A>GCA346127531OTOFc.5933T>C (p.Leu1978Pro)
c.3512+561T>C (n.3512+561T>C)
c.3692T>C (p.Leu1231Pro)
c.3632T>C (p.Leu1211Pro)
c.3863T>C (p.Leu1288Pro)
c.5813+561T>C (n.5813+561T>C)
c.5798+561T>C (n.5798+561T>C)
c.5858+561T>C (n.5858+561T>C)
c.5873T>C (p.Leu1958Pro)
2g.26460086A>TCA346127529OTOFc.5933T>A (p.Leu1978His)
c.3512+561T>A (n.3512+561T>A)
c.3692T>A (p.Leu1231His)
c.3632T>A (p.Leu1211His)
c.3863T>A (p.Leu1288His)
c.5813+561T>A (n.5813+561T>A)
c.5798+561T>A (n.5798+561T>A)
c.5858+561T>A (n.5858+561T>A)
c.5873T>A (p.Leu1958His)
2g.26460087G>ACA346127534OTOFc.5932C>T (p.Leu1978Phe)
c.3512+560C>T (n.3512+560C>T)
c.3691C>T (p.Leu1231Phe)
c.3631C>T (p.Leu1211Phe)
c.3862C>T (p.Leu1288Phe)
c.5813+560C>T (n.5813+560C>T)
c.5798+560C>T (n.5798+560C>T)
c.5858+560C>T (n.5858+560C>T)
c.5872C>T (p.Leu1958Phe)
 gnomAD v4
2g.26460087G>CCA346127535OTOFc.5932C>G (p.Leu1978Val)
c.3512+560C>G (n.3512+560C>G)
c.3691C>G (p.Leu1231Val)
c.3631C>G (p.Leu1211Val)
c.3862C>G (p.Leu1288Val)
c.5813+560C>G (n.5813+560C>G)
c.5798+560C>G (n.5798+560C>G)
c.5858+560C>G (n.5858+560C>G)
c.5872C>G (p.Leu1958Val)
2g.26460087G>TCA346127537OTOFc.5932C>A (p.Leu1978Ile)
c.3512+560C>A (n.3512+560C>A)
c.3691C>A (p.Leu1231Ile)
c.3631C>A (p.Leu1211Ile)
c.3862C>A (p.Leu1288Ile)
c.5813+560C>A (n.5813+560C>A)
c.5798+560C>A (n.5798+560C>A)
c.5858+560C>A (n.5858+560C>A)
c.5872C>A (p.Leu1958Ile)
2g.26460088G>ACA44406192OTOFc.5931C>T (p.Leu1977=)
c.3512+559C>T (n.3512+559C>T)
c.3690C>T (p.Leu1230=)
c.3630C>T (p.Leu1210=)
c.3861C>T (p.Leu1287=)
c.5813+559C>T (n.5813+559C>T)
c.5798+559C>T (n.5798+559C>T)
c.5858+559C>T (n.5858+559C>T)
c.5871C>T (p.Leu1957=)
 dbSNP gnomAD v4
2g.26460088G>CCA425206512OTOFc.5931C>G (p.Leu1977=)
c.3512+559C>G (n.3512+559C>G)
c.3690C>G (p.Leu1230=)
c.3630C>G (p.Leu1210=)
c.3861C>G (p.Leu1287=)
c.5813+559C>G (n.5813+559C>G)
c.5798+559C>G (n.5798+559C>G)
c.5858+559C>G (n.5858+559C>G)
c.5871C>G (p.Leu1957=)
2g.26460088G=CA1239824015OTOFc.5931C= (p.Leu1977=)
c.3512+559C= (n.3512+559C=)
c.3690C= (p.Leu1230=)
c.3630C= (p.Leu1210=)
c.3861C= (p.Leu1287=)
c.5813+559C= (n.5813+559C=)
c.5798+559C= (n.5798+559C=)
c.5858+559C= (n.5858+559C=)
c.5871C= (p.Leu1957=)
2g.26460088G>TCA425206513OTOFc.5931C>A (p.Leu1977=)
c.3512+559C>A (n.3512+559C>A)
c.3690C>A (p.Leu1230=)
c.3630C>A (p.Leu1210=)
c.3861C>A (p.Leu1287=)
c.5813+559C>A (n.5813+559C>A)
c.5798+559C>A (n.5798+559C>A)
c.5858+559C>A (n.5858+559C>A)
c.5871C>A (p.Leu1957=)
2g.26460089A>CCA346127539OTOFc.5930T>G (p.Leu1977Arg)
c.3512+558T>G (n.3512+558T>G)
c.3689T>G (p.Leu1230Arg)
c.3629T>G (p.Leu1210Arg)
c.3860T>G (p.Leu1287Arg)
c.5813+558T>G (n.5813+558T>G)
c.5798+558T>G (n.5798+558T>G)
c.5858+558T>G (n.5858+558T>G)
c.5870T>G (p.Leu1957Arg)
2g.26460089A>GCA346127540OTOFc.5930T>C (p.Leu1977Pro)
c.3512+558T>C (n.3512+558T>C)
c.3689T>C (p.Leu1230Pro)
c.3629T>C (p.Leu1210Pro)
c.3860T>C (p.Leu1287Pro)
c.5813+558T>C (n.5813+558T>C)
c.5798+558T>C (n.5798+558T>C)
c.5858+558T>C (n.5858+558T>C)
c.5870T>C (p.Leu1957Pro)
2g.26460089A>TCA346127541OTOFc.5930T>A (p.Leu1977His)
c.3512+558T>A (n.3512+558T>A)
c.3689T>A (p.Leu1230His)
c.3629T>A (p.Leu1210His)
c.3860T>A (p.Leu1287His)
c.5813+558T>A (n.5813+558T>A)
c.5798+558T>A (n.5798+558T>A)
c.5858+558T>A (n.5858+558T>A)
c.5870T>A (p.Leu1957His)
2g.26460099_26460110dupCA916495946OTOFc.5919_5930dup (p.Leu1977_Leu1978insLeuLeuLeuLeu)
c.3512+547_3512+558dup (n.3512+547_3512+558dup)
c.3678_3689dup (p.Leu1230_Leu1231insLeuLeuLeuLeu)
c.3618_3629dup (p.Leu1210_Leu1211insLeuLeuLeuLeu)
c.3849_3860dup (p.Leu1287_Leu1288insLeuLeuLeuLeu)
c.5813+547_5813+558dup (n.5813+547_5813+558dup)
c.5798+547_5798+558dup (n.5798+547_5798+558dup)
c.5858+547_5858+558dup (n.5858+547_5858+558dup)
c.5859_5870dup (p.Leu1957_Leu1958insLeuLeuLeuLeu)
 dbSNP gnomAD v3 gnomAD v4
2g.26460099_26460110delCA2594511662OTOFc.5919_5930del (p.Leu1974_Leu1977del)
c.3512+547_3512+558del (n.3512+547_3512+558del)
c.3678_3689del (p.Leu1227_Leu1230del)
c.3618_3629del (p.Leu1207_Leu1210del)
c.3849_3860del (p.Leu1284_Leu1287del)
c.5813+547_5813+558del (n.5813+547_5813+558del)
c.5798+547_5798+558del (n.5798+547_5798+558del)
c.5858+547_5858+558del (n.5858+547_5858+558del)
c.5859_5870del (p.Leu1954_Leu1957del)
 gnomAD v3 gnomAD v4
2g.26460090G>ACA346127543OTOFc.5929C>T (p.Leu1977Phe)
c.3512+557C>T (n.3512+557C>T)
c.3688C>T (p.Leu1230Phe)
c.3628C>T (p.Leu1210Phe)
c.3859C>T (p.Leu1287Phe)
c.5813+557C>T (n.5813+557C>T)
c.5798+557C>T (n.5798+557C>T)
c.5858+557C>T (n.5858+557C>T)
c.5869C>T (p.Leu1957Phe)
 gnomAD v4
2g.26460090G>CCA346127546OTOFc.5929C>G (p.Leu1977Val)
c.3512+557C>G (n.3512+557C>G)
c.3688C>G (p.Leu1230Val)
c.3628C>G (p.Leu1210Val)
c.3859C>G (p.Leu1287Val)
c.5813+557C>G (n.5813+557C>G)
c.5798+557C>G (n.5798+557C>G)
c.5858+557C>G (n.5858+557C>G)
c.5869C>G (p.Leu1957Val)
2g.26460090G>TCA346127544OTOFc.5929C>A (p.Leu1977Ile)
c.3512+557C>A (n.3512+557C>A)
c.3688C>A (p.Leu1230Ile)
c.3628C>A (p.Leu1210Ile)
c.3859C>A (p.Leu1287Ile)
c.5813+557C>A (n.5813+557C>A)
c.5798+557C>A (n.5798+557C>A)
c.5858+557C>A (n.5858+557C>A)
c.5869C>A (p.Leu1957Ile)
2g.26460091G>ACA425206516OTOFc.5928C>T (p.Leu1976=)
c.3512+556C>T (n.3512+556C>T)
c.3687C>T (p.Leu1229=)
c.3627C>T (p.Leu1209=)
c.3858C>T (p.Leu1286=)
c.5813+556C>T (n.5813+556C>T)
c.5798+556C>T (n.5798+556C>T)
c.5858+556C>T (n.5858+556C>T)
c.5868C>T (p.Leu1956=)
 dbSNP gnomAD v2 gnomAD v4
2g.26460091G>CCA1562655OTOFc.5928C>G (p.Leu1976=)
c.3512+556C>G (n.3512+556C>G)
c.3687C>G (p.Leu1229=)
c.3627C>G (p.Leu1209=)
c.3858C>G (p.Leu1286=)
c.5813+556C>G (n.5813+556C>G)
c.5798+556C>G (n.5798+556C>G)
c.5858+556C>G (n.5858+556C>G)
c.5868C>G (p.Leu1956=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.26460091G=CA1239824017OTOFc.5928C= (p.Leu1976=)
c.3512+556C= (n.3512+556C=)
c.3687C= (p.Leu1229=)
c.3627C= (p.Leu1209=)
c.3858C= (p.Leu1286=)
c.5813+556C= (n.5813+556C=)
c.5798+556C= (n.5798+556C=)
c.5858+556C= (n.5858+556C=)
c.5868C= (p.Leu1956=)
2g.26460091G>TCA425206517OTOFc.5928C>A (p.Leu1976=)
c.3512+556C>A (n.3512+556C>A)
c.3687C>A (p.Leu1229=)
c.3627C>A (p.Leu1209=)
c.3858C>A (p.Leu1286=)
c.5813+556C>A (n.5813+556C>A)
c.5798+556C>A (n.5798+556C>A)
c.5858+556C>A (n.5858+556C>A)
c.5868C>A (p.Leu1956=)
2g.26460092A>CCA346127548OTOFc.5927T>G (p.Leu1976Arg)
c.3512+555T>G (n.3512+555T>G)
c.3686T>G (p.Leu1229Arg)
c.3626T>G (p.Leu1209Arg)
c.3857T>G (p.Leu1286Arg)
c.5813+555T>G (n.5813+555T>G)
c.5798+555T>G (n.5798+555T>G)
c.5858+555T>G (n.5858+555T>G)
c.5867T>G (p.Leu1956Arg)
2g.26460092A>GCA346127549OTOFc.5927T>C (p.Leu1976Pro)
c.3512+555T>C (n.3512+555T>C)
c.3686T>C (p.Leu1229Pro)
c.3626T>C (p.Leu1209Pro)
c.3857T>C (p.Leu1286Pro)
c.5813+555T>C (n.5813+555T>C)
c.5798+555T>C (n.5798+555T>C)
c.5858+555T>C (n.5858+555T>C)
c.5867T>C (p.Leu1956Pro)
 gnomAD v4
2g.26460092A>TCA346127550OTOFc.5927T>A (p.Leu1976His)
c.3512+555T>A (n.3512+555T>A)
c.3686T>A (p.Leu1229His)
c.3626T>A (p.Leu1209His)
c.3857T>A (p.Leu1286His)
c.5813+555T>A (n.5813+555T>A)
c.5798+555T>A (n.5798+555T>A)
c.5858+555T>A (n.5858+555T>A)
c.5867T>A (p.Leu1956His)
2g.26460100_26460102dupCA2658232657OTOFc.5925_5927dup (p.Leu1976_Leu1977insLeu)
c.3512+553_3512+555dup (n.3512+553_3512+555dup)
c.3684_3686dup (p.Leu1229_Leu1230insLeu)
c.3624_3626dup (p.Leu1209_Leu1210insLeu)
c.3855_3857dup (p.Leu1286_Leu1287insLeu)
c.5813+553_5813+555dup (n.5813+553_5813+555dup)
c.5798+553_5798+555dup (n.5798+553_5798+555dup)
c.5858+553_5858+555dup (n.5858+553_5858+555dup)
c.5865_5867dup (p.Leu1956_Leu1957insLeu)
 gnomAD v4
2g.26460100_26460102delCA2658232658OTOFc.5925_5927del (p.Leu1976del)
c.3512+553_3512+555del (n.3512+553_3512+555del)
c.3684_3686del (p.Leu1229del)
c.3624_3626del (p.Leu1209del)
c.3855_3857del (p.Leu1286del)
c.5813+553_5813+555del (n.5813+553_5813+555del)
c.5798+553_5798+555del (n.5798+553_5798+555del)
c.5858+553_5858+555del (n.5858+553_5858+555del)
c.5865_5867del (p.Leu1956del)
 gnomAD v4
2g.26460093G>ACA1562656OTOFc.5926C>T (p.Leu1976Phe)
c.3512+554C>T (n.3512+554C>T)
c.3685C>T (p.Leu1229Phe)
c.3625C>T (p.Leu1209Phe)
c.3856C>T (p.Leu1286Phe)
c.5813+554C>T (n.5813+554C>T)
c.5798+554C>T (n.5798+554C>T)
c.5858+554C>T (n.5858+554C>T)
c.5866C>T (p.Leu1956Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26460093G>CCA346127553OTOFc.5926C>G (p.Leu1976Val)
c.3512+554C>G (n.3512+554C>G)
c.3685C>G (p.Leu1229Val)
c.3625C>G (p.Leu1209Val)
c.3856C>G (p.Leu1286Val)
c.5813+554C>G (n.5813+554C>G)
c.5798+554C>G (n.5798+554C>G)
c.5858+554C>G (n.5858+554C>G)
c.5866C>G (p.Leu1956Val)
2g.26460093G=CA1239824019OTOFc.5926C= (p.Leu1976=)
c.3512+554C= (n.3512+554C=)
c.3685C= (p.Leu1229=)
c.3625C= (p.Leu1209=)
c.3856C= (p.Leu1286=)
c.5813+554C= (n.5813+554C=)
c.5798+554C= (n.5798+554C=)
c.5858+554C= (n.5858+554C=)
c.5866C= (p.Leu1956=)
2g.26460093G>TCA346127555OTOFc.5926C>A (p.Leu1976Ile)
c.3512+554C>A (n.3512+554C>A)
c.3685C>A (p.Leu1229Ile)
c.3625C>A (p.Leu1209Ile)
c.3856C>A (p.Leu1286Ile)
c.5813+554C>A (n.5813+554C>A)
c.5798+554C>A (n.5798+554C>A)
c.5858+554C>A (n.5858+554C>A)
c.5866C>A (p.Leu1956Ile)
 gnomAD v4
2g.26460093_26460094delinsGCCA1239824018OTOFc.5925_5926delinsGC (p.Leu1975=)
c.3512+553_3512+554delinsGC (n.3512+553_3512+554delinsGC)
c.3684_3685delinsGC (p.Leu1228=)
c.3624_3625delinsGC (p.Leu1208=)
c.3855_3856delinsGC (p.Leu1285=)
c.5813+553_5813+554delinsGC (n.5813+553_5813+554delinsGC)
c.5798+553_5798+554delinsGC (n.5798+553_5798+554delinsGC)
c.5858+553_5858+554delinsGC (n.5858+553_5858+554delinsGC)
c.5865_5866delinsGC (p.Leu1955=)
2g.26460094delCA273475OTOFc.5925del (p.Leu1976SerfsTer?)
c.3512+553del (n.3512+553del)
c.3684del (p.Leu1229SerfsTer?)
c.3624del (p.Leu1209SerfsTer?)
c.3855del (p.Leu1286SerfsTer?)
c.5813+553del (n.5813+553del)
c.5798+553del (n.5798+553del)
c.5858+553del (n.5858+553del)
c.5865del (p.Leu1956SerfsTer?)
 ClinVar dbSNP
2g.26460094C>ACA425206523OTOFc.5925G>T (p.Leu1975=)
c.3512+553G>T (n.3512+553G>T)
c.3684G>T (p.Leu1228=)
c.3624G>T (p.Leu1208=)
c.3855G>T (p.Leu1285=)
c.5813+553G>T (n.5813+553G>T)
c.5798+553G>T (n.5798+553G>T)
c.5858+553G>T (n.5858+553G>T)
c.5865G>T (p.Leu1955=)
 gnomAD v4
2g.26460094C>GCA425206521OTOFc.5925G>C (p.Leu1975=)
c.3512+553G>C (n.3512+553G>C)
c.3684G>C (p.Leu1228=)
c.3624G>C (p.Leu1208=)
c.3855G>C (p.Leu1285=)
c.5813+553G>C (n.5813+553G>C)
c.5798+553G>C (n.5798+553G>C)
c.5858+553G>C (n.5858+553G>C)
c.5865G>C (p.Leu1955=)
2g.26460094C>TCA425206520OTOFc.5925G>A (p.Leu1975=)
c.3512+553G>A (n.3512+553G>A)
c.3684G>A (p.Leu1228=)
c.3624G>A (p.Leu1208=)
c.3855G>A (p.Leu1285=)
c.5813+553G>A (n.5813+553G>A)
c.5798+553G>A (n.5798+553G>A)
c.5858+553G>A (n.5858+553G>A)
c.5865G>A (p.Leu1955=)
 gnomAD v4
2g.26460095A=CA1239824023OTOFc.5924T= (p.Leu1975=)
c.3512+552T= (n.3512+552T=)
c.3683T= (p.Leu1228=)
c.3623T= (p.Leu1208=)
c.3854T= (p.Leu1285=)
c.5813+552T= (n.5813+552T=)
c.5798+552T= (n.5798+552T=)
c.5858+552T= (n.5858+552T=)
c.5864T= (p.Leu1955=)
2g.26460095A>CCA346127558OTOFc.5924T>G (p.Leu1975Arg)
c.3512+552T>G (n.3512+552T>G)
c.3683T>G (p.Leu1228Arg)
c.3623T>G (p.Leu1208Arg)
c.3854T>G (p.Leu1285Arg)
c.5813+552T>G (n.5813+552T>G)
c.5798+552T>G (n.5798+552T>G)
c.5858+552T>G (n.5858+552T>G)
c.5864T>G (p.Leu1955Arg)
2g.26460095A>GCA1562657OTOFc.5924T>C (p.Leu1975Pro)
c.3512+552T>C (n.3512+552T>C)
c.3683T>C (p.Leu1228Pro)
c.3623T>C (p.Leu1208Pro)
c.3854T>C (p.Leu1285Pro)
c.5813+552T>C (n.5813+552T>C)
c.5798+552T>C (n.5798+552T>C)
c.5858+552T>C (n.5858+552T>C)
c.5864T>C (p.Leu1955Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26460095A>TCA346127561OTOFc.5924T>A (p.Leu1975Gln)
c.3512+552T>A (n.3512+552T>A)
c.3683T>A (p.Leu1228Gln)
c.3623T>A (p.Leu1208Gln)
c.3854T>A (p.Leu1285Gln)
c.5813+552T>A (n.5813+552T>A)
c.5798+552T>A (n.5798+552T>A)
c.5858+552T>A (n.5858+552T>A)
c.5864T>A (p.Leu1955Gln)
2g.26460102_26460110delCA2658232659OTOFc.5916_5924del (p.Leu1973_Leu1975del)
c.3512+544_3512+552del (n.3512+544_3512+552del)
c.3675_3683del (p.Leu1226_Leu1228del)
c.3615_3623del (p.Leu1206_Leu1208del)
c.3846_3854del (p.Leu1283_Leu1285del)
c.5813+544_5813+552del (n.5813+544_5813+552del)
c.5798+544_5798+552del (n.5798+544_5798+552del)
c.5858+544_5858+552del (n.5858+544_5858+552del)
c.5856_5864del (p.Leu1953_Leu1955del)
 gnomAD v4
2g.26460096delCA2658232660OTOFc.5923del (p.Leu1975CysfsTer?)
c.3512+551del (n.3512+551del)
c.3682del (p.Leu1228CysfsTer?)
c.3622del (p.Leu1208CysfsTer?)
c.3853del (p.Leu1285CysfsTer?)
c.5813+551del (n.5813+551del)
c.5798+551del (n.5798+551del)
c.5858+551del (n.5858+551del)
c.5863del (p.Leu1955CysfsTer?)
 gnomAD v4
2g.26460096G>ACA425206526OTOFc.5923C>T (p.Leu1975=)
c.3512+551C>T (n.3512+551C>T)
c.3682C>T (p.Leu1228=)
c.3622C>T (p.Leu1208=)
c.3853C>T (p.Leu1285=)
c.5813+551C>T (n.5813+551C>T)
c.5798+551C>T (n.5798+551C>T)
c.5858+551C>T (n.5858+551C>T)
c.5863C>T (p.Leu1955=)
 gnomAD v4
2g.26460096G>CCA346127565OTOFc.5923C>G (p.Leu1975Val)
c.3512+551C>G (n.3512+551C>G)
c.3682C>G (p.Leu1228Val)
c.3622C>G (p.Leu1208Val)
c.3853C>G (p.Leu1285Val)
c.5813+551C>G (n.5813+551C>G)
c.5798+551C>G (n.5798+551C>G)
c.5858+551C>G (n.5858+551C>G)
c.5863C>G (p.Leu1955Val)
2g.26460096G>TCA346127563OTOFc.5923C>A (p.Leu1975Met)
c.3512+551C>A (n.3512+551C>A)
c.3682C>A (p.Leu1228Met)
c.3622C>A (p.Leu1208Met)
c.3853C>A (p.Leu1285Met)
c.5813+551C>A (n.5813+551C>A)
c.5798+551C>A (n.5798+551C>A)
c.5858+551C>A (n.5858+551C>A)
c.5863C>A (p.Leu1955Met)
 gnomAD v4
2g.26460097C>ACA425206527OTOFc.5922G>T (p.Leu1974=)
c.3512+550G>T (n.3512+550G>T)
c.3681G>T (p.Leu1227=)
c.3621G>T (p.Leu1207=)
c.3852G>T (p.Leu1284=)
c.5813+550G>T (n.5813+550G>T)
c.5798+550G>T (n.5798+550G>T)
c.5858+550G>T (n.5858+550G>T)
c.5862G>T (p.Leu1954=)
 gnomAD v4
2g.26460097C=CA1239824024OTOFc.5922G= (p.Leu1974=)
c.3512+550G= (n.3512+550G=)
c.3681G= (p.Leu1227=)
c.3621G= (p.Leu1207=)
c.3852G= (p.Leu1284=)
c.5813+550G= (n.5813+550G=)
c.5798+550G= (n.5798+550G=)
c.5858+550G= (n.5858+550G=)
c.5862G= (p.Leu1954=)
2g.26460097C>GCA425206529OTOFc.5922G>C (p.Leu1974=)
c.3512+550G>C (n.3512+550G>C)
c.3681G>C (p.Leu1227=)
c.3621G>C (p.Leu1207=)
c.3852G>C (p.Leu1284=)
c.5813+550G>C (n.5813+550G>C)
c.5798+550G>C (n.5798+550G>C)
c.5858+550G>C (n.5858+550G>C)
c.5862G>C (p.Leu1954=)
2g.26460097C>TCA177538OTOFc.5922G>A (p.Leu1974=)
c.3512+550G>A (n.3512+550G>A)
c.3681G>A (p.Leu1227=)
c.3621G>A (p.Leu1207=)
c.3852G>A (p.Leu1284=)
c.5813+550G>A (n.5813+550G>A)
c.5798+550G>A (n.5798+550G>A)
c.5858+550G>A (n.5858+550G>A)
c.5862G>A (p.Leu1954=)
 ClinVar dbSNP
2g.26460098delCA2576698613OTOFc.5921del (p.Leu1974ArgfsTer?)
c.3512+549del (n.3512+549del)
c.3680del (p.Leu1227ArgfsTer?)
c.3620del (p.Leu1207ArgfsTer?)
c.3851del (p.Leu1284ArgfsTer?)
c.5813+549del (n.5813+549del)
c.5798+549del (n.5798+549del)
c.5858+549del (n.5858+549del)
c.5861del (p.Leu1954ArgfsTer?)
2g.26460098A=CA1239824028OTOFc.5921T= (p.Leu1974=)
c.3512+549T= (n.3512+549T=)
c.3680T= (p.Leu1227=)
c.3620T= (p.Leu1207=)
c.3851T= (p.Leu1284=)
c.5813+549T= (n.5813+549T=)
c.5798+549T= (n.5798+549T=)
c.5858+549T= (n.5858+549T=)
c.5861T= (p.Leu1954=)
2g.26460098A>CCA346127568OTOFc.5921T>G (p.Leu1974Arg)
c.3512+549T>G (n.3512+549T>G)
c.3680T>G (p.Leu1227Arg)
c.3620T>G (p.Leu1207Arg)
c.3851T>G (p.Leu1284Arg)
c.5813+549T>G (n.5813+549T>G)
c.5798+549T>G (n.5798+549T>G)
c.5858+549T>G (n.5858+549T>G)
c.5861T>G (p.Leu1954Arg)
2g.26460098A>GCA346127571OTOFc.5921T>C (p.Leu1974Pro)
c.3512+549T>C (n.3512+549T>C)
c.3680T>C (p.Leu1227Pro)
c.3620T>C (p.Leu1207Pro)
c.3851T>C (p.Leu1284Pro)
c.5813+549T>C (n.5813+549T>C)
c.5798+549T>C (n.5798+549T>C)
c.5858+549T>C (n.5858+549T>C)
c.5861T>C (p.Leu1954Pro)
 gnomAD v4
2g.26460098A>TCA346127575OTOFc.5921T>A (p.Leu1974Gln)
c.3512+549T>A (n.3512+549T>A)
c.3680T>A (p.Leu1227Gln)
c.3620T>A (p.Leu1207Gln)
c.3851T>A (p.Leu1284Gln)
c.5813+549T>A (n.5813+549T>A)
c.5798+549T>A (n.5798+549T>A)
c.5858+549T>A (n.5858+549T>A)
c.5861T>A (p.Leu1954Gln)
 dbSNP gnomAD v2 gnomAD v4
2g.26460099G>ACA425206530OTOFc.5920C>T (p.Leu1974=)
c.3512+548C>T (n.3512+548C>T)
c.3679C>T (p.Leu1227=)
c.3619C>T (p.Leu1207=)
c.3850C>T (p.Leu1284=)
c.5813+548C>T (n.5813+548C>T)
c.5798+548C>T (n.5798+548C>T)
c.5858+548C>T (n.5858+548C>T)
c.5860C>T (p.Leu1954=)
2g.26460099G>CCA346127576OTOFc.5920C>G (p.Leu1974Val)
c.3512+548C>G (n.3512+548C>G)
c.3679C>G (p.Leu1227Val)
c.3619C>G (p.Leu1207Val)
c.3850C>G (p.Leu1284Val)
c.5813+548C>G (n.5813+548C>G)
c.5798+548C>G (n.5798+548C>G)
c.5858+548C>G (n.5858+548C>G)
c.5860C>G (p.Leu1954Val)
2g.26460099G>TCA346127578OTOFc.5920C>A (p.Leu1974Met)
c.3512+548C>A (n.3512+548C>A)
c.3679C>A (p.Leu1227Met)
c.3619C>A (p.Leu1207Met)
c.3850C>A (p.Leu1284Met)
c.5813+548C>A (n.5813+548C>A)
c.5798+548C>A (n.5798+548C>A)
c.5858+548C>A (n.5858+548C>A)
c.5860C>A (p.Leu1954Met)
 gnomAD v4
2g.26460100C>ACA425206532OTOFc.5919G>T (p.Leu1973=)
c.3512+547G>T (n.3512+547G>T)
c.3678G>T (p.Leu1226=)
c.3618G>T (p.Leu1206=)
c.3849G>T (p.Leu1283=)
c.5813+547G>T (n.5813+547G>T)
c.5798+547G>T (n.5798+547G>T)
c.5858+547G>T (n.5858+547G>T)
c.5859G>T (p.Leu1953=)
 gnomAD v4
2g.26460100C>GCA425206534OTOFc.5919G>C (p.Leu1973=)
c.3512+547G>C (n.3512+547G>C)
c.3678G>C (p.Leu1226=)
c.3618G>C (p.Leu1206=)
c.3849G>C (p.Leu1283=)
c.5813+547G>C (n.5813+547G>C)
c.5798+547G>C (n.5798+547G>C)
c.5858+547G>C (n.5858+547G>C)
c.5859G>C (p.Leu1953=)
2g.26460100C>TCA425206533OTOFc.5919G>A (p.Leu1973=)
c.3512+547G>A (n.3512+547G>A)
c.3678G>A (p.Leu1226=)
c.3618G>A (p.Leu1206=)
c.3849G>A (p.Leu1283=)
c.5813+547G>A (n.5813+547G>A)
c.5798+547G>A (n.5798+547G>A)
c.5858+547G>A (n.5858+547G>A)
c.5859G>A (p.Leu1953=)
2g.26460101A>CCA346127582OTOFc.5918T>G (p.Leu1973Arg)
c.3512+546T>G (n.3512+546T>G)
c.3677T>G (p.Leu1226Arg)
c.3617T>G (p.Leu1206Arg)
c.3848T>G (p.Leu1283Arg)
c.5813+546T>G (n.5813+546T>G)
c.5798+546T>G (n.5798+546T>G)
c.5858+546T>G (n.5858+546T>G)
c.5858T>G (p.Leu1953Arg)
2g.26460101A>GCA346127580OTOFc.5918T>C (p.Leu1973Pro)
c.3512+546T>C (n.3512+546T>C)
c.3677T>C (p.Leu1226Pro)
c.3617T>C (p.Leu1206Pro)
c.3848T>C (p.Leu1283Pro)
c.5813+546T>C (n.5813+546T>C)
c.5798+546T>C (n.5798+546T>C)
c.5858+546T>C (n.5858+546T>C)
c.5858T>C (p.Leu1953Pro)
2g.26460101A>TCA346127579OTOFc.5918T>A (p.Leu1973Gln)
c.3512+546T>A (n.3512+546T>A)
c.3677T>A (p.Leu1226Gln)
c.3617T>A (p.Leu1206Gln)
c.3848T>A (p.Leu1283Gln)
c.5813+546T>A (n.5813+546T>A)
c.5798+546T>A (n.5798+546T>A)
c.5858+546T>A (n.5858+546T>A)
c.5858T>A (p.Leu1953Gln)
2g.26460102G>ACA425206535OTOFc.5917C>T (p.Leu1973=)
c.3512+545C>T (n.3512+545C>T)
c.3676C>T (p.Leu1226=)
c.3616C>T (p.Leu1206=)
c.3847C>T (p.Leu1283=)
c.5813+545C>T (n.5813+545C>T)
c.5798+545C>T (n.5798+545C>T)
c.5858+545C>T (n.5858+545C>T)
c.5857C>T (p.Leu1953=)
 ClinVar
2g.26460102G>CCA346127583OTOFc.5917C>G (p.Leu1973Val)
c.3512+545C>G (n.3512+545C>G)
c.3676C>G (p.Leu1226Val)
c.3616C>G (p.Leu1206Val)
c.3847C>G (p.Leu1283Val)
c.5813+545C>G (n.5813+545C>G)
c.5798+545C>G (n.5798+545C>G)
c.5858+545C>G (n.5858+545C>G)
c.5857C>G (p.Leu1953Val)
2g.26460102G>TCA346127585OTOFc.5917C>A (p.Leu1973Met)
c.3512+545C>A (n.3512+545C>A)
c.3676C>A (p.Leu1226Met)
c.3616C>A (p.Leu1206Met)
c.3847C>A (p.Leu1283Met)
c.5813+545C>A (n.5813+545C>A)
c.5798+545C>A (n.5798+545C>A)
c.5858+545C>A (n.5858+545C>A)
c.5857C>A (p.Leu1953Met)
2g.26460103G>ACA1562658OTOFc.5916C>T (p.Leu1972=)
c.3512+544C>T (n.3512+544C>T)
c.3675C>T (p.Leu1225=)
c.3615C>T (p.Leu1205=)
c.3846C>T (p.Leu1282=)
c.5813+544C>T (n.5813+544C>T)
c.5798+544C>T (n.5798+544C>T)
c.5858+544C>T (n.5858+544C>T)
c.5856C>T (p.Leu1952=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26460103G>CCA425206538OTOFc.5916C>G (p.Leu1972=)
c.3512+544C>G (n.3512+544C>G)
c.3675C>G (p.Leu1225=)
c.3615C>G (p.Leu1205=)
c.3846C>G (p.Leu1282=)
c.5813+544C>G (n.5813+544C>G)
c.5798+544C>G (n.5798+544C>G)
c.5858+544C>G (n.5858+544C>G)
c.5856C>G (p.Leu1952=)
2g.26460103G=CA1239824029OTOFc.5916C= (p.Leu1972=)
c.3512+544C= (n.3512+544C=)
c.3675C= (p.Leu1225=)
c.3615C= (p.Leu1205=)
c.3846C= (p.Leu1282=)
c.5813+544C= (n.5813+544C=)
c.5798+544C= (n.5798+544C=)
c.5858+544C= (n.5858+544C=)
c.5856C= (p.Leu1952=)
2g.26460103G>TCA425206539OTOFc.5916C>A (p.Leu1972=)
c.3512+544C>A (n.3512+544C>A)
c.3675C>A (p.Leu1225=)
c.3615C>A (p.Leu1205=)
c.3846C>A (p.Leu1282=)
c.5813+544C>A (n.5813+544C>A)
c.5798+544C>A (n.5798+544C>A)
c.5858+544C>A (n.5858+544C>A)
c.5856C>A (p.Leu1952=)
 gnomAD v4
2g.26460104A>CCA346127589OTOFc.5915T>G (p.Leu1972Arg)
c.3512+543T>G (n.3512+543T>G)
c.3674T>G (p.Leu1225Arg)
c.3614T>G (p.Leu1205Arg)
c.3845T>G (p.Leu1282Arg)
c.5813+543T>G (n.5813+543T>G)
c.5798+543T>G (n.5798+543T>G)
c.5858+543T>G (n.5858+543T>G)
c.5855T>G (p.Leu1952Arg)
2g.26460104A>GCA346127592OTOFc.5915T>C (p.Leu1972Pro)
c.3512+543T>C (n.3512+543T>C)
c.3674T>C (p.Leu1225Pro)
c.3614T>C (p.Leu1205Pro)
c.3845T>C (p.Leu1282Pro)
c.5813+543T>C (n.5813+543T>C)
c.5798+543T>C (n.5798+543T>C)
c.5858+543T>C (n.5858+543T>C)
c.5855T>C (p.Leu1952Pro)
2g.26460104A>TCA346127594OTOFc.5915T>A (p.Leu1972His)
c.3512+543T>A (n.3512+543T>A)
c.3674T>A (p.Leu1225His)
c.3614T>A (p.Leu1205His)
c.3845T>A (p.Leu1282His)
c.5813+543T>A (n.5813+543T>A)
c.5798+543T>A (n.5798+543T>A)
c.5858+543T>A (n.5858+543T>A)
c.5855T>A (p.Leu1952His)
2g.26460105G>ACA346127597OTOFc.5914C>T (p.Leu1972Phe)
c.3512+542C>T (n.3512+542C>T)
c.3673C>T (p.Leu1225Phe)
c.3613C>T (p.Leu1205Phe)
c.3844C>T (p.Leu1282Phe)
c.5813+542C>T (n.5813+542C>T)
c.5798+542C>T (n.5798+542C>T)
c.5858+542C>T (n.5858+542C>T)
c.5854C>T (p.Leu1952Phe)
 dbSNP gnomAD v2 gnomAD v4
2g.26460105G>CCA346127602OTOFc.5914C>G (p.Leu1972Val)
c.3512+542C>G (n.3512+542C>G)
c.3673C>G (p.Leu1225Val)
c.3613C>G (p.Leu1205Val)
c.3844C>G (p.Leu1282Val)
c.5813+542C>G (n.5813+542C>G)
c.5798+542C>G (n.5798+542C>G)
c.5858+542C>G (n.5858+542C>G)
c.5854C>G (p.Leu1952Val)
2g.26460105G=CA1239824032OTOFc.5914C= (p.Leu1972=)
c.3512+542C= (n.3512+542C=)
c.3673C= (p.Leu1225=)
c.3613C= (p.Leu1205=)
c.3844C= (p.Leu1282=)
c.5813+542C= (n.5813+542C=)
c.5798+542C= (n.5798+542C=)
c.5858+542C= (n.5858+542C=)
c.5854C= (p.Leu1952=)
2g.26460105G>TCA346127599OTOFc.5914C>A (p.Leu1972Ile)
c.3512+542C>A (n.3512+542C>A)
c.3673C>A (p.Leu1225Ile)
c.3613C>A (p.Leu1205Ile)
c.3844C>A (p.Leu1282Ile)
c.5813+542C>A (n.5813+542C>A)
c.5798+542C>A (n.5798+542C>A)
c.5858+542C>A (n.5858+542C>A)
c.5854C>A (p.Leu1952Ile)
 COSMIC COSMIC
2g.26460106C>ACA425206542OTOFc.5913G>T (p.Leu1971=)
c.3512+541G>T (n.3512+541G>T)
c.3672G>T (p.Leu1224=)
c.3612G>T (p.Leu1204=)
c.3843G>T (p.Leu1281=)
c.5813+541G>T (n.5813+541G>T)
c.5798+541G>T (n.5798+541G>T)
c.5858+541G>T (n.5858+541G>T)
c.5853G>T (p.Leu1951=)
 gnomAD v4
2g.26460106C>GCA425206544OTOFc.5913G>C (p.Leu1971=)
c.3512+541G>C (n.3512+541G>C)
c.3672G>C (p.Leu1224=)
c.3612G>C (p.Leu1204=)
c.3843G>C (p.Leu1281=)
c.5813+541G>C (n.5813+541G>C)
c.5798+541G>C (n.5798+541G>C)
c.5858+541G>C (n.5858+541G>C)
c.5853G>C (p.Leu1951=)
2g.26460106C>TCA425206543OTOFc.5913G>A (p.Leu1971=)
c.3512+541G>A (n.3512+541G>A)
c.3672G>A (p.Leu1224=)
c.3612G>A (p.Leu1204=)
c.3843G>A (p.Leu1281=)
c.5813+541G>A (n.5813+541G>A)
c.5798+541G>A (n.5798+541G>A)
c.5858+541G>A (n.5858+541G>A)
c.5853G>A (p.Leu1951=)
 gnomAD v4 COSMIC COSMIC
2g.26460107A>CCA346127604OTOFc.5912T>G (p.Leu1971Arg)
c.3512+540T>G (n.3512+540T>G)
c.3671T>G (p.Leu1224Arg)
c.3611T>G (p.Leu1204Arg)
c.3842T>G (p.Leu1281Arg)
c.5813+540T>G (n.5813+540T>G)
c.5798+540T>G (n.5798+540T>G)
c.5858+540T>G (n.5858+540T>G)
c.5852T>G (p.Leu1951Arg)
2g.26460107A>GCA346127606OTOFc.5912T>C (p.Leu1971Pro)
c.3512+540T>C (n.3512+540T>C)
c.3671T>C (p.Leu1224Pro)
c.3611T>C (p.Leu1204Pro)
c.3842T>C (p.Leu1281Pro)
c.5813+540T>C (n.5813+540T>C)
c.5798+540T>C (n.5798+540T>C)
c.5858+540T>C (n.5858+540T>C)
c.5852T>C (p.Leu1951Pro)
2g.26460107A>TCA346127607OTOFc.5912T>A (p.Leu1971Gln)
c.3512+540T>A (n.3512+540T>A)
c.3671T>A (p.Leu1224Gln)
c.3611T>A (p.Leu1204Gln)
c.3842T>A (p.Leu1281Gln)
c.5813+540T>A (n.5813+540T>A)
c.5798+540T>A (n.5798+540T>A)
c.5858+540T>A (n.5858+540T>A)
c.5852T>A (p.Leu1951Gln)
2g.26460108G>ACA425206545OTOFc.5911C>T (p.Leu1971=)
c.3512+539C>T (n.3512+539C>T)
c.3670C>T (p.Leu1224=)
c.3610C>T (p.Leu1204=)
c.3841C>T (p.Leu1281=)
c.5813+539C>T (n.5813+539C>T)
c.5798+539C>T (n.5798+539C>T)
c.5858+539C>T (n.5858+539C>T)
c.5851C>T (p.Leu1951=)
 gnomAD v4
2g.26460108G>CCA346127609OTOFc.5911C>G (p.Leu1971Val)
c.3512+539C>G (n.3512+539C>G)
c.3670C>G (p.Leu1224Val)
c.3610C>G (p.Leu1204Val)
c.3841C>G (p.Leu1281Val)
c.5813+539C>G (n.5813+539C>G)
c.5798+539C>G (n.5798+539C>G)
c.5858+539C>G (n.5858+539C>G)
c.5851C>G (p.Leu1951Val)
2g.26460108G>TCA346127612OTOFc.5911C>A (p.Leu1971Met)
c.3512+539C>A (n.3512+539C>A)
c.3670C>A (p.Leu1224Met)
c.3610C>A (p.Leu1204Met)
c.3841C>A (p.Leu1281Met)
c.5813+539C>A (n.5813+539C>A)
c.5798+539C>A (n.5798+539C>A)
c.5858+539C>A (n.5858+539C>A)
c.5851C>A (p.Leu1951Met)
 gnomAD v4
2g.26460109C>ACA346127615OTOFc.5910G>T (p.Leu1970Phe)
c.3512+538G>T (n.3512+538G>T)
c.3669G>T (p.Leu1223Phe)
c.3609G>T (p.Leu1203Phe)
c.3840G>T (p.Leu1280Phe)
c.5813+538G>T (n.5813+538G>T)
c.5798+538G>T (n.5798+538G>T)
c.5858+538G>T (n.5858+538G>T)
c.5850G>T (p.Leu1950Phe)
2g.26460109C>GCA346127618OTOFc.5910G>C (p.Leu1970Phe)
c.3512+538G>C (n.3512+538G>C)
c.3669G>C (p.Leu1223Phe)
c.3609G>C (p.Leu1203Phe)
c.3840G>C (p.Leu1280Phe)
c.5813+538G>C (n.5813+538G>C)
c.5798+538G>C (n.5798+538G>C)
c.5858+538G>C (n.5858+538G>C)
c.5850G>C (p.Leu1950Phe)
2g.26460109C>TCA425206546OTOFc.5910G>A (p.Leu1970=)
c.3512+538G>A (n.3512+538G>A)
c.3669G>A (p.Leu1223=)
c.3609G>A (p.Leu1203=)
c.3840G>A (p.Leu1280=)
c.5813+538G>A (n.5813+538G>A)
c.5798+538G>A (n.5798+538G>A)
c.5858+538G>A (n.5858+538G>A)
c.5850G>A (p.Leu1950=)
2g.26460110A>CCA346127627OTOFc.5909T>G (p.Leu1970Trp)
c.3512+537T>G (n.3512+537T>G)
c.3668T>G (p.Leu1223Trp)
c.3608T>G (p.Leu1203Trp)
c.3839T>G (p.Leu1280Trp)
c.5813+537T>G (n.5813+537T>G)
c.5798+537T>G (n.5798+537T>G)
c.5858+537T>G (n.5858+537T>G)
c.5849T>G (p.Leu1950Trp)
2g.26460110A>GCA346127628OTOFc.5909T>C (p.Leu1970Ser)
c.3512+537T>C (n.3512+537T>C)
c.3668T>C (p.Leu1223Ser)
c.3608T>C (p.Leu1203Ser)
c.3839T>C (p.Leu1280Ser)
c.5813+537T>C (n.5813+537T>C)
c.5798+537T>C (n.5798+537T>C)
c.5858+537T>C (n.5858+537T>C)
c.5849T>C (p.Leu1950Ser)
2g.26460110A>TCA346127629OTOFc.5909T>A (p.Leu1970Ter)
c.3512+537T>A (n.3512+537T>A)
c.3668T>A (p.Leu1223Ter)
c.3608T>A (p.Leu1203Ter)
c.3839T>A (p.Leu1280Ter)
c.5813+537T>A (n.5813+537T>A)
c.5798+537T>A (n.5798+537T>A)
c.5858+537T>A (n.5858+537T>A)
c.5849T>A (p.Leu1950Ter)
2g.26460110_26460112delinsAACCA1239824035OTOFc.5907_5909delinsGTT (p.Leu1969=)
c.3512+535_3512+537delinsGTT (n.3512+535_3512+537delinsGTT)
c.3666_3668delinsGTT (p.Leu1222=)
c.3606_3608delinsGTT (p.Leu1202=)
c.3837_3839delinsGTT (p.Leu1279=)
c.5813+535_5813+537delinsGTT (n.5813+535_5813+537delinsGTT)
c.5798+535_5798+537delinsGTT (n.5798+535_5798+537delinsGTT)
c.5858+535_5858+537delinsGTT (n.5858+535_5858+537delinsGTT)
c.5847_5849delinsGTT (p.Leu1949=)
2g.26460111A>CCA346127632OTOFc.5908T>G (p.Leu1970Val)
c.3512+536T>G (n.3512+536T>G)
c.3667T>G (p.Leu1223Val)
c.3607T>G (p.Leu1203Val)
c.3838T>G (p.Leu1280Val)
c.5813+536T>G (n.5813+536T>G)
c.5798+536T>G (n.5798+536T>G)
c.5858+536T>G (n.5858+536T>G)
c.5848T>G (p.Leu1950Val)
2g.26460111A>GCA425206547OTOFc.5908T>C (p.Leu1970=)
c.3512+536T>C (n.3512+536T>C)
c.3667T>C (p.Leu1223=)
c.3607T>C (p.Leu1203=)
c.3838T>C (p.Leu1280=)
c.5813+536T>C (n.5813+536T>C)
c.5798+536T>C (n.5798+536T>C)
c.5858+536T>C (n.5858+536T>C)
c.5848T>C (p.Leu1950=)
 gnomAD v4
2g.26460111A>TCA346127633OTOFc.5908T>A (p.Leu1970Met)
c.3512+536T>A (n.3512+536T>A)
c.3667T>A (p.Leu1223Met)
c.3607T>A (p.Leu1203Met)
c.3838T>A (p.Leu1280Met)
c.5813+536T>A (n.5813+536T>A)
c.5798+536T>A (n.5798+536T>A)
c.5858+536T>A (n.5858+536T>A)
c.5848T>A (p.Leu1950Met)
2g.26460112_26460113delCA1239824037OTOFc.5907_5908del (p.Leu1970AlafsTer?)
c.3512+535_3512+536del (n.3512+535_3512+536del)
c.3666_3667del (p.Leu1223AlafsTer?)
c.3606_3607del (p.Leu1203AlafsTer?)
c.3837_3838del (p.Leu1280AlafsTer?)
c.5813+535_5813+536del (n.5813+535_5813+536del)
c.5798+535_5798+536del (n.5798+535_5798+536del)
c.5858+535_5858+536del (n.5858+535_5858+536del)
c.5847_5848del (p.Leu1950AlafsTer?)
 dbSNP gnomAD v4
2g.26460112C>ACA425206550OTOFc.5907G>T (p.Leu1969=)
c.3512+535G>T (n.3512+535G>T)
c.3666G>T (p.Leu1222=)
c.3606G>T (p.Leu1202=)
c.3837G>T (p.Leu1279=)
c.5813+535G>T (n.5813+535G>T)
c.5798+535G>T (n.5798+535G>T)
c.5858+535G>T (n.5858+535G>T)
c.5847G>T (p.Leu1949=)
 gnomAD v4
2g.26460112C=CA1239824040OTOFc.5907G= (p.Leu1969=)
c.3512+535G= (n.3512+535G=)
c.3666G= (p.Leu1222=)
c.3606G= (p.Leu1202=)
c.3837G= (p.Leu1279=)
c.5813+535G= (n.5813+535G=)
c.5798+535G= (n.5798+535G=)
c.5858+535G= (n.5858+535G=)
c.5847G= (p.Leu1949=)
2g.26460112C>GCA425206551OTOFc.5907G>C (p.Leu1969=)
c.3512+535G>C (n.3512+535G>C)
c.3666G>C (p.Leu1222=)
c.3606G>C (p.Leu1202=)
c.3837G>C (p.Leu1279=)
c.5813+535G>C (n.5813+535G>C)
c.5798+535G>C (n.5798+535G>C)
c.5858+535G>C (n.5858+535G>C)
c.5847G>C (p.Leu1949=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.26460112C>TCA425206553OTOFc.5907G>A (p.Leu1969=)
c.3512+535G>A (n.3512+535G>A)
c.3666G>A (p.Leu1222=)
c.3606G>A (p.Leu1202=)
c.3837G>A (p.Leu1279=)
c.5813+535G>A (n.5813+535G>A)
c.5798+535G>A (n.5798+535G>A)
c.5858+535G>A (n.5858+535G>A)
c.5847G>A (p.Leu1949=)
 ClinVar
2g.26460113A=CA1239824042OTOFc.5906T= (p.Leu1969=)
c.3512+534T= (n.3512+534T=)
c.3665T= (p.Leu1222=)
c.3605T= (p.Leu1202=)
c.3836T= (p.Leu1279=)
c.5813+534T= (n.5813+534T=)
c.5798+534T= (n.5798+534T=)
c.5858+534T= (n.5858+534T=)
c.5846T= (p.Leu1949=)
2g.26460113A>CCA346127636OTOFc.5906T>G (p.Leu1969Arg)
c.3512+534T>G (n.3512+534T>G)
c.3665T>G (p.Leu1222Arg)
c.3605T>G (p.Leu1202Arg)
c.3836T>G (p.Leu1279Arg)
c.5813+534T>G (n.5813+534T>G)
c.5798+534T>G (n.5798+534T>G)
c.5858+534T>G (n.5858+534T>G)
c.5846T>G (p.Leu1949Arg)
2g.26460113A>GCA1562659OTOFc.5906T>C (p.Leu1969Pro)
c.3512+534T>C (n.3512+534T>C)
c.3665T>C (p.Leu1222Pro)
c.3605T>C (p.Leu1202Pro)
c.3836T>C (p.Leu1279Pro)
c.5813+534T>C (n.5813+534T>C)
c.5798+534T>C (n.5798+534T>C)
c.5858+534T>C (n.5858+534T>C)
c.5846T>C (p.Leu1949Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26460113A>TCA346127635OTOFc.5906T>A (p.Leu1969Gln)
c.3512+534T>A (n.3512+534T>A)
c.3665T>A (p.Leu1222Gln)
c.3605T>A (p.Leu1202Gln)
c.3836T>A (p.Leu1279Gln)
c.5813+534T>A (n.5813+534T>A)
c.5798+534T>A (n.5798+534T>A)
c.5858+534T>A (n.5858+534T>A)
c.5846T>A (p.Leu1949Gln)
2g.26460114G>ACA1562660OTOFc.5905C>T (p.Leu1969=)
c.3512+533C>T (n.3512+533C>T)
c.3664C>T (p.Leu1222=)
c.3604C>T (p.Leu1202=)
c.3835C>T (p.Leu1279=)
c.5813+533C>T (n.5813+533C>T)
c.5798+533C>T (n.5798+533C>T)
c.5858+533C>T (n.5858+533C>T)
c.5845C>T (p.Leu1949=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26460114G>CCA346127641OTOFc.5905C>G (p.Leu1969Val)
c.3512+533C>G (n.3512+533C>G)
c.3664C>G (p.Leu1222Val)
c.3604C>G (p.Leu1202Val)
c.3835C>G (p.Leu1279Val)
c.5813+533C>G (n.5813+533C>G)
c.5798+533C>G (n.5798+533C>G)
c.5858+533C>G (n.5858+533C>G)
c.5845C>G (p.Leu1949Val)
2g.26460114G=CA1239824044OTOFc.5905C= (p.Leu1969=)
c.3512+533C= (n.3512+533C=)
c.3664C= (p.Leu1222=)
c.3604C= (p.Leu1202=)
c.3835C= (p.Leu1279=)
c.5813+533C= (n.5813+533C=)
c.5798+533C= (n.5798+533C=)
c.5858+533C= (n.5858+533C=)
c.5845C= (p.Leu1949=)
2g.26460114G>TCA346127639OTOFc.5905C>A (p.Leu1969Met)
c.3512+533C>A (n.3512+533C>A)
c.3664C>A (p.Leu1222Met)
c.3604C>A (p.Leu1202Met)
c.3835C>A (p.Leu1279Met)
c.5813+533C>A (n.5813+533C>A)
c.5798+533C>A (n.5798+533C>A)
c.5858+533C>A (n.5858+533C>A)
c.5845C>A (p.Leu1949Met)
 gnomAD v4
2g.26460115T>ACA346127643OTOFc.5904A>T (p.Lys1968Asn)
c.3512+532A>T (n.3512+532A>T)
c.3663A>T (p.Lys1221Asn)
c.3603A>T (p.Lys1201Asn)
c.3834A>T (p.Lys1278Asn)
c.5813+532A>T (n.5813+532A>T)
c.5798+532A>T (n.5798+532A>T)
c.5858+532A>T (n.5858+532A>T)
c.5844A>T (p.Lys1948Asn)
2g.26460115T>CCA425206557OTOFc.5904A>G (p.Lys1968=)
c.3512+532A>G (n.3512+532A>G)
c.3663A>G (p.Lys1221=)
c.3603A>G (p.Lys1201=)
c.3834A>G (p.Lys1278=)
c.5813+532A>G (n.5813+532A>G)
c.5798+532A>G (n.5798+532A>G)
c.5858+532A>G (n.5858+532A>G)
c.5844A>G (p.Lys1948=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26460115T>GCA346127645OTOFc.5904A>C (p.Lys1968Asn)
c.3512+532A>C (n.3512+532A>C)
c.3663A>C (p.Lys1221Asn)
c.3603A>C (p.Lys1201Asn)
c.3834A>C (p.Lys1278Asn)
c.5813+532A>C (n.5813+532A>C)
c.5798+532A>C (n.5798+532A>C)
c.5858+532A>C (n.5858+532A>C)
c.5844A>C (p.Lys1948Asn)
2g.26460115T=CA1239824047OTOFc.5904A= (p.Lys1968=)
c.3512+532A= (n.3512+532A=)
c.3663A= (p.Lys1221=)
c.3603A= (p.Lys1201=)
c.3834A= (p.Lys1278=)
c.5813+532A= (n.5813+532A=)
c.5798+532A= (n.5798+532A=)
c.5858+532A= (n.5858+532A=)
c.5844A= (p.Lys1948=)
2g.26460116T>ACA346127647OTOFc.5903A>T (p.Lys1968Ile)
c.3512+531A>T (n.3512+531A>T)
c.3662A>T (p.Lys1221Ile)
c.3602A>T (p.Lys1201Ile)
c.3833A>T (p.Lys1278Ile)
c.5813+531A>T (n.5813+531A>T)
c.5798+531A>T (n.5798+531A>T)
c.5858+531A>T (n.5858+531A>T)
c.5843A>T (p.Lys1948Ile)
2g.26460116T>CCA1562661OTOFc.5903A>G (p.Lys1968Arg)
c.3512+531A>G (n.3512+531A>G)
c.3662A>G (p.Lys1221Arg)
c.3602A>G (p.Lys1201Arg)
c.3833A>G (p.Lys1278Arg)
c.5813+531A>G (n.5813+531A>G)
c.5798+531A>G (n.5798+531A>G)
c.5858+531A>G (n.5858+531A>G)
c.5843A>G (p.Lys1948Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26460116T>GCA346127651OTOFc.5903A>C (p.Lys1968Thr)
c.3512+531A>C (n.3512+531A>C)
c.3662A>C (p.Lys1221Thr)
c.3602A>C (p.Lys1201Thr)
c.3833A>C (p.Lys1278Thr)
c.5813+531A>C (n.5813+531A>C)
c.5798+531A>C (n.5798+531A>C)
c.5858+531A>C (n.5858+531A>C)
c.5843A>C (p.Lys1948Thr)
2g.26460116T=CA1239824050OTOFc.5903A= (p.Lys1968=)
c.3512+531A= (n.3512+531A=)
c.3662A= (p.Lys1221=)
c.3602A= (p.Lys1201=)
c.3833A= (p.Lys1278=)
c.5813+531A= (n.5813+531A=)
c.5798+531A= (n.5798+531A=)
c.5858+531A= (n.5858+531A=)
c.5843A= (p.Lys1948=)
2g.26460117T>ACA346127652OTOFc.5902A>T (p.Lys1968Ter)
c.3512+530A>T (n.3512+530A>T)
c.3661A>T (p.Lys1221Ter)
c.3601A>T (p.Lys1201Ter)
c.3832A>T (p.Lys1278Ter)
c.5813+530A>T (n.5813+530A>T)
c.5798+530A>T (n.5798+530A>T)
c.5858+530A>T (n.5858+530A>T)
c.5842A>T (p.Lys1948Ter)
2g.26460117T>CCA346127653OTOFc.5902A>G (p.Lys1968Glu)
c.3512+530A>G (n.3512+530A>G)
c.3661A>G (p.Lys1221Glu)
c.3601A>G (p.Lys1201Glu)
c.3832A>G (p.Lys1278Glu)
c.5813+530A>G (n.5813+530A>G)
c.5798+530A>G (n.5798+530A>G)
c.5858+530A>G (n.5858+530A>G)
c.5842A>G (p.Lys1948Glu)
2g.26460117T>GCA346127658OTOFc.5902A>C (p.Lys1968Gln)
c.3512+530A>C (n.3512+530A>C)
c.3661A>C (p.Lys1221Gln)
c.3601A>C (p.Lys1201Gln)
c.3832A>C (p.Lys1278Gln)
c.5813+530A>C (n.5813+530A>C)
c.5798+530A>C (n.5798+530A>C)
c.5858+530A>C (n.5858+530A>C)
c.5842A>C (p.Lys1948Gln)
2g.26460117_26460119delCA2586968797OTOFc.5900_5902del (p.Leu1967_Lys1968delinsGln)
c.3512+528_3512+530del (n.3512+528_3512+530del)
c.3659_3661del (p.Leu1220_Lys1221delinsGln)
c.3599_3601del (p.Leu1200_Lys1201delinsGln)
c.3830_3832del (p.Leu1277_Lys1278delinsGln)
c.5813+528_5813+530del (n.5813+528_5813+530del)
c.5798+528_5798+530del (n.5798+528_5798+530del)
c.5858+528_5858+530del (n.5858+528_5858+530del)
c.5840_5842del (p.Leu1947_Lys1948delinsGln)
2g.26460118G>ACA425206563OTOFc.5901C>T (p.Leu1967=)
c.3512+529C>T (n.3512+529C>T)
c.3660C>T (p.Leu1220=)
c.3600C>T (p.Leu1200=)
c.3831C>T (p.Leu1277=)
c.5813+529C>T (n.5813+529C>T)
c.5798+529C>T (n.5798+529C>T)
c.5858+529C>T (n.5858+529C>T)
c.5841C>T (p.Leu1947=)
 gnomAD v4
2g.26460118G>CCA425206565OTOFc.5901C>G (p.Leu1967=)
c.3512+529C>G (n.3512+529C>G)
c.3660C>G (p.Leu1220=)
c.3600C>G (p.Leu1200=)
c.3831C>G (p.Leu1277=)
c.5813+529C>G (n.5813+529C>G)
c.5798+529C>G (n.5798+529C>G)
c.5858+529C>G (n.5858+529C>G)
c.5841C>G (p.Leu1947=)
2g.26460118G>TCA425206566OTOFc.5901C>A (p.Leu1967=)
c.3512+529C>A (n.3512+529C>A)
c.3660C>A (p.Leu1220=)
c.3600C>A (p.Leu1200=)
c.3831C>A (p.Leu1277=)
c.5813+529C>A (n.5813+529C>A)
c.5798+529C>A (n.5798+529C>A)
c.5858+529C>A (n.5858+529C>A)
c.5841C>A (p.Leu1947=)
2g.26460119A>CCA346127660OTOFc.5900T>G (p.Leu1967Arg)
c.3512+528T>G (n.3512+528T>G)
c.3659T>G (p.Leu1220Arg)
c.3599T>G (p.Leu1200Arg)
c.3830T>G (p.Leu1277Arg)
c.5813+528T>G (n.5813+528T>G)
c.5798+528T>G (n.5798+528T>G)
c.5858+528T>G (n.5858+528T>G)
c.5840T>G (p.Leu1947Arg)
2g.26460119A>GCA346127663OTOFc.5900T>C (p.Leu1967Pro)
c.3512+528T>C (n.3512+528T>C)
c.3659T>C (p.Leu1220Pro)
c.3599T>C (p.Leu1200Pro)
c.3830T>C (p.Leu1277Pro)
c.5813+528T>C (n.5813+528T>C)
c.5798+528T>C (n.5798+528T>C)
c.5858+528T>C (n.5858+528T>C)
c.5840T>C (p.Leu1947Pro)
2g.26460119A>TCA346127665OTOFc.5900T>A (p.Leu1967His)
c.3512+528T>A (n.3512+528T>A)
c.3659T>A (p.Leu1220His)
c.3599T>A (p.Leu1200His)
c.3830T>A (p.Leu1277His)
c.5813+528T>A (n.5813+528T>A)
c.5798+528T>A (n.5798+528T>A)
c.5858+528T>A (n.5858+528T>A)
c.5840T>A (p.Leu1947His)
2g.26460120G>ACA346127672OTOFc.5899C>T (p.Leu1967Phe)
c.3512+527C>T (n.3512+527C>T)
c.3658C>T (p.Leu1220Phe)
c.3598C>T (p.Leu1200Phe)
c.3829C>T (p.Leu1277Phe)
c.5813+527C>T (n.5813+527C>T)
c.5798+527C>T (n.5798+527C>T)
c.5858+527C>T (n.5858+527C>T)
c.5839C>T (p.Leu1947Phe)
2g.26460120G>CCA346127667OTOFc.5899C>G (p.Leu1967Val)
c.3512+527C>G (n.3512+527C>G)
c.3658C>G (p.Leu1220Val)
c.3598C>G (p.Leu1200Val)
c.3829C>G (p.Leu1277Val)
c.5813+527C>G (n.5813+527C>G)
c.5798+527C>G (n.5798+527C>G)
c.5858+527C>G (n.5858+527C>G)
c.5839C>G (p.Leu1947Val)
2g.26460120G>TCA346127669OTOFc.5899C>A (p.Leu1967Ile)
c.3512+527C>A (n.3512+527C>A)
c.3658C>A (p.Leu1220Ile)
c.3598C>A (p.Leu1200Ile)
c.3829C>A (p.Leu1277Ile)
c.5813+527C>A (n.5813+527C>A)
c.5798+527C>A (n.5798+527C>A)
c.5858+527C>A (n.5858+527C>A)
c.5839C>A (p.Leu1947Ile)
 gnomAD v4
2g.26460121G>ACA425206567OTOFc.5898C>T (p.Leu1966=)
c.3512+526C>T (n.3512+526C>T)
c.3657C>T (p.Leu1219=)
c.3597C>T (p.Leu1199=)
c.3828C>T (p.Leu1276=)
c.5813+526C>T (n.5813+526C>T)
c.5798+526C>T (n.5798+526C>T)
c.5858+526C>T (n.5858+526C>T)
c.5838C>T (p.Leu1946=)
 gnomAD v4
2g.26460121G>CCA425206568OTOFc.5898C>G (p.Leu1966=)
c.3512+526C>G (n.3512+526C>G)
c.3657C>G (p.Leu1219=)
c.3597C>G (p.Leu1199=)
c.3828C>G (p.Leu1276=)
c.5813+526C>G (n.5813+526C>G)
c.5798+526C>G (n.5798+526C>G)
c.5858+526C>G (n.5858+526C>G)
c.5838C>G (p.Leu1946=)
 dbSNP gnomAD v2 gnomAD v4
2g.26460121G=CA1239824052OTOFc.5898C= (p.Leu1966=)
c.3512+526C= (n.3512+526C=)
c.3657C= (p.Leu1219=)
c.3597C= (p.Leu1199=)
c.3828C= (p.Leu1276=)
c.5813+526C= (n.5813+526C=)
c.5798+526C= (n.5798+526C=)
c.5858+526C= (n.5858+526C=)
c.5838C= (p.Leu1946=)
2g.26460121G>TCA425206569OTOFc.5898C>A (p.Leu1966=)
c.3512+526C>A (n.3512+526C>A)
c.3657C>A (p.Leu1219=)
c.3597C>A (p.Leu1199=)
c.3828C>A (p.Leu1276=)
c.5813+526C>A (n.5813+526C>A)
c.5798+526C>A (n.5798+526C>A)
c.5858+526C>A (n.5858+526C>A)
c.5838C>A (p.Leu1946=)
2g.26460122delCA2658232661OTOFc.5897del (p.Leu1966ProfsTer?)
c.3512+525del (n.3512+525del)
c.3656del (p.Leu1219ProfsTer?)
c.3596del (p.Leu1199ProfsTer?)
c.3827del (p.Leu1276ProfsTer?)
c.5813+525del (n.5813+525del)
c.5798+525del (n.5798+525del)
c.5858+525del (n.5858+525del)
c.5837del (p.Leu1946ProfsTer?)
 gnomAD v4
2g.26460122A=CA1239824055OTOFc.5897T= (p.Leu1966=)
c.3512+525T= (n.3512+525T=)
c.3656T= (p.Leu1219=)
c.3596T= (p.Leu1199=)
c.3827T= (p.Leu1276=)
c.5813+525T= (n.5813+525T=)
c.5798+525T= (n.5798+525T=)
c.5858+525T= (n.5858+525T=)
c.5837T= (p.Leu1946=)
2g.26460122A>CCA346127675OTOFc.5897T>G (p.Leu1966Arg)
c.3512+525T>G (n.3512+525T>G)
c.3656T>G (p.Leu1219Arg)
c.3596T>G (p.Leu1199Arg)
c.3827T>G (p.Leu1276Arg)
c.5813+525T>G (n.5813+525T>G)
c.5798+525T>G (n.5798+525T>G)
c.5858+525T>G (n.5858+525T>G)
c.5837T>G (p.Leu1946Arg)
 gnomAD v4
2g.26460122A>GCA346127677OTOFc.5897T>C (p.Leu1966Pro)
c.3512+525T>C (n.3512+525T>C)
c.3656T>C (p.Leu1219Pro)
c.3596T>C (p.Leu1199Pro)
c.3827T>C (p.Leu1276Pro)
c.5813+525T>C (n.5813+525T>C)
c.5798+525T>C (n.5798+525T>C)
c.5858+525T>C (n.5858+525T>C)
c.5837T>C (p.Leu1946Pro)
 dbSNP gnomAD v3 gnomAD v4
2g.26460122A>TCA346127679OTOFc.5897T>A (p.Leu1966His)
c.3512+525T>A (n.3512+525T>A)
c.3656T>A (p.Leu1219His)
c.3596T>A (p.Leu1199His)
c.3827T>A (p.Leu1276His)
c.5813+525T>A (n.5813+525T>A)
c.5798+525T>A (n.5798+525T>A)
c.5858+525T>A (n.5858+525T>A)
c.5837T>A (p.Leu1946His)
2g.26460123G>ACA346127682OTOFc.5896C>T (p.Leu1966Phe)
c.3512+524C>T (n.3512+524C>T)
c.3655C>T (p.Leu1219Phe)
c.3595C>T (p.Leu1199Phe)
c.3826C>T (p.Leu1276Phe)
c.5813+524C>T (n.5813+524C>T)
c.5798+524C>T (n.5798+524C>T)
c.5858+524C>T (n.5858+524C>T)
c.5836C>T (p.Leu1946Phe)
 gnomAD v4
2g.26460123G>CCA346127684OTOFc.5896C>G (p.Leu1966Val)
c.3512+524C>G (n.3512+524C>G)
c.3655C>G (p.Leu1219Val)
c.3595C>G (p.Leu1199Val)
c.3826C>G (p.Leu1276Val)
c.5813+524C>G (n.5813+524C>G)
c.5798+524C>G (n.5798+524C>G)
c.5858+524C>G (n.5858+524C>G)
c.5836C>G (p.Leu1946Val)
2g.26460123G>TCA346127685OTOFc.5896C>A (p.Leu1966Ile)
c.3512+524C>A (n.3512+524C>A)
c.3655C>A (p.Leu1219Ile)
c.3595C>A (p.Leu1199Ile)
c.3826C>A (p.Leu1276Ile)
c.5813+524C>A (n.5813+524C>A)
c.5798+524C>A (n.5798+524C>A)
c.5858+524C>A (n.5858+524C>A)
c.5836C>A (p.Leu1946Ile)
2g.26460124C>ACA425206571OTOFc.5895G>T (p.Leu1965=)
c.3512+523G>T (n.3512+523G>T)
c.3654G>T (p.Leu1218=)
c.3594G>T (p.Leu1198=)
c.3825G>T (p.Leu1275=)
c.5813+523G>T (n.5813+523G>T)
c.5798+523G>T (n.5798+523G>T)
c.5858+523G>T (n.5858+523G>T)
c.5835G>T (p.Leu1945=)
 gnomAD v4
2g.26460124C>GCA425206572OTOFc.5895G>C (p.Leu1965=)
c.3512+523G>C (n.3512+523G>C)
c.3654G>C (p.Leu1218=)
c.3594G>C (p.Leu1198=)
c.3825G>C (p.Leu1275=)
c.5813+523G>C (n.5813+523G>C)
c.5798+523G>C (n.5798+523G>C)
c.5858+523G>C (n.5858+523G>C)
c.5835G>C (p.Leu1945=)
 gnomAD v4
2g.26460124C>TCA425206573OTOFc.5895G>A (p.Leu1965=)
c.3512+523G>A (n.3512+523G>A)
c.3654G>A (p.Leu1218=)
c.3594G>A (p.Leu1198=)
c.3825G>A (p.Leu1275=)
c.5813+523G>A (n.5813+523G>A)
c.5798+523G>A (n.5798+523G>A)
c.5858+523G>A (n.5858+523G>A)
c.5835G>A (p.Leu1945=)
 gnomAD v4
2g.26460125A=CA1239824057OTOFc.5894T= (p.Leu1965=)
c.3512+522T= (n.3512+522T=)
c.3653T= (p.Leu1218=)
c.3593T= (p.Leu1198=)
c.3824T= (p.Leu1275=)
c.5813+522T= (n.5813+522T=)
c.5798+522T= (n.5798+522T=)
c.5858+522T= (n.5858+522T=)
c.5834T= (p.Leu1945=)
2g.26460125A>CCA346127687OTOFc.5894T>G (p.Leu1965Arg)
c.3512+522T>G (n.3512+522T>G)
c.3653T>G (p.Leu1218Arg)
c.3593T>G (p.Leu1198Arg)
c.3824T>G (p.Leu1275Arg)
c.5813+522T>G (n.5813+522T>G)
c.5798+522T>G (n.5798+522T>G)
c.5858+522T>G (n.5858+522T>G)
c.5834T>G (p.Leu1945Arg)
2g.26460125A>GCA346127691OTOFc.5894T>C (p.Leu1965Pro)
c.3512+522T>C (n.3512+522T>C)
c.3653T>C (p.Leu1218Pro)
c.3593T>C (p.Leu1198Pro)
c.3824T>C (p.Leu1275Pro)
c.5813+522T>C (n.5813+522T>C)
c.5798+522T>C (n.5798+522T>C)
c.5858+522T>C (n.5858+522T>C)
c.5834T>C (p.Leu1945Pro)
 dbSNP gnomAD v2 gnomAD v4
2g.26460125A>TCA346127693OTOFc.5894T>A (p.Leu1965Gln)
c.3512+522T>A (n.3512+522T>A)
c.3653T>A (p.Leu1218Gln)
c.3593T>A (p.Leu1198Gln)
c.3824T>A (p.Leu1275Gln)
c.5813+522T>A (n.5813+522T>A)
c.5798+522T>A (n.5798+522T>A)
c.5858+522T>A (n.5858+522T>A)
c.5834T>A (p.Leu1945Gln)
2g.26460126delCA2658232662OTOFc.5893del (p.Leu1965CysfsTer?)
c.3512+521del (n.3512+521del)
c.3652del (p.Leu1218CysfsTer?)
c.3592del (p.Leu1198CysfsTer?)
c.3823del (p.Leu1275CysfsTer?)
c.5813+521del (n.5813+521del)
c.5798+521del (n.5798+521del)
c.5858+521del (n.5858+521del)
c.5833del (p.Leu1945CysfsTer?)
 gnomAD v4
2g.26460126G>ACA425206575OTOFc.5893C>T (p.Leu1965=)
c.3512+521C>T (n.3512+521C>T)
c.3652C>T (p.Leu1218=)
c.3592C>T (p.Leu1198=)
c.3823C>T (p.Leu1275=)
c.5813+521C>T (n.5813+521C>T)
c.5798+521C>T (n.5798+521C>T)
c.5858+521C>T (n.5858+521C>T)
c.5833C>T (p.Leu1945=)
 gnomAD v4
2g.26460126G>CCA346127695OTOFc.5893C>G (p.Leu1965Val)
c.3512+521C>G (n.3512+521C>G)
c.3652C>G (p.Leu1218Val)
c.3592C>G (p.Leu1198Val)
c.3823C>G (p.Leu1275Val)
c.5813+521C>G (n.5813+521C>G)
c.5798+521C>G (n.5798+521C>G)
c.5858+521C>G (n.5858+521C>G)
c.5833C>G (p.Leu1945Val)
 dbSNP gnomAD v4
2g.26460126G=CA1239824059OTOFc.5893C= (p.Leu1965=)
c.3512+521C= (n.3512+521C=)
c.3652C= (p.Leu1218=)
c.3592C= (p.Leu1198=)
c.3823C= (p.Leu1275=)
c.5813+521C= (n.5813+521C=)
c.5798+521C= (n.5798+521C=)
c.5858+521C= (n.5858+521C=)
c.5833C= (p.Leu1945=)
2g.26460126G>TCA346127700OTOFc.5893C>A (p.Leu1965Met)
c.3512+521C>A (n.3512+521C>A)
c.3652C>A (p.Leu1218Met)
c.3592C>A (p.Leu1198Met)
c.3823C>A (p.Leu1275Met)
c.5813+521C>A (n.5813+521C>A)
c.5798+521C>A (n.5798+521C>A)
c.5858+521C>A (n.5858+521C>A)
c.5833C>A (p.Leu1945Met)
2g.26460127C>ACA1562662OTOFc.5892G>T (p.Trp1964Cys)
c.3512+520G>T (n.3512+520G>T)
c.3651G>T (p.Trp1217Cys)
c.3591G>T (p.Trp1197Cys)
c.3822G>T (p.Trp1274Cys)
c.5813+520G>T (n.5813+520G>T)
c.5798+520G>T (n.5798+520G>T)
c.5858+520G>T (n.5858+520G>T)
c.5832G>T (p.Trp1944Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26460127C=CA1239824060OTOFc.5892G= (p.Trp1964=)
c.3512+520G= (n.3512+520G=)
c.3651G= (p.Trp1217=)
c.3591G= (p.Trp1197=)
c.3822G= (p.Trp1274=)
c.5813+520G= (n.5813+520G=)
c.5798+520G= (n.5798+520G=)
c.5858+520G= (n.5858+520G=)
c.5832G= (p.Trp1944=)
2g.26460127C>GCA346127705OTOFc.5892G>C (p.Trp1964Cys)
c.3512+520G>C (n.3512+520G>C)
c.3651G>C (p.Trp1217Cys)
c.3591G>C (p.Trp1197Cys)
c.3822G>C (p.Trp1274Cys)
c.5813+520G>C (n.5813+520G>C)
c.5798+520G>C (n.5798+520G>C)
c.5858+520G>C (n.5858+520G>C)
c.5832G>C (p.Trp1944Cys)
2g.26460127C>TCA346127703OTOFc.5892G>A (p.Trp1964Ter)
c.3512+520G>A (n.3512+520G>A)
c.3651G>A (p.Trp1217Ter)
c.3591G>A (p.Trp1197Ter)
c.3822G>A (p.Trp1274Ter)
c.5813+520G>A (n.5813+520G>A)
c.5798+520G>A (n.5798+520G>A)
c.5858+520G>A (n.5858+520G>A)
c.5832G>A (p.Trp1944Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.26460128C>ACA346127713OTOFc.5891G>T (p.Trp1964Leu)
c.3512+519G>T (n.3512+519G>T)
c.3650G>T (p.Trp1217Leu)
c.3590G>T (p.Trp1197Leu)
c.3821G>T (p.Trp1274Leu)
c.5813+519G>T (n.5813+519G>T)
c.5798+519G>T (n.5798+519G>T)
c.5858+519G>T (n.5858+519G>T)
c.5831G>T (p.Trp1944Leu)
2g.26460128C>GCA346127708OTOFc.5891G>C (p.Trp1964Ser)
c.3512+519G>C (n.3512+519G>C)
c.3650G>C (p.Trp1217Ser)
c.3590G>C (p.Trp1197Ser)
c.3821G>C (p.Trp1274Ser)
c.5813+519G>C (n.5813+519G>C)
c.5798+519G>C (n.5798+519G>C)
c.5858+519G>C (n.5858+519G>C)
c.5831G>C (p.Trp1944Ser)
2g.26460128C>TCA346127711OTOFc.5891G>A (p.Trp1964Ter)
c.3512+519G>A (n.3512+519G>A)
c.3650G>A (p.Trp1217Ter)
c.3590G>A (p.Trp1197Ter)
c.3821G>A (p.Trp1274Ter)
c.5813+519G>A (n.5813+519G>A)
c.5798+519G>A (n.5798+519G>A)
c.5858+519G>A (n.5858+519G>A)
c.5831G>A (p.Trp1944Ter)
 dbSNP gnomAD v4
2g.26460129A>CCA346127715OTOFc.5890T>G (p.Trp1964Gly)
c.3512+518T>G (n.3512+518T>G)
c.3649T>G (p.Trp1217Gly)
c.3589T>G (p.Trp1197Gly)
c.3820T>G (p.Trp1274Gly)
c.5813+518T>G (n.5813+518T>G)
c.5798+518T>G (n.5798+518T>G)
c.5858+518T>G (n.5858+518T>G)
c.5830T>G (p.Trp1944Gly)
2g.26460129A>GCA346127717OTOFc.5890T>C (p.Trp1964Arg)
c.3512+518T>C (n.3512+518T>C)
c.3649T>C (p.Trp1217Arg)
c.3589T>C (p.Trp1197Arg)
c.3820T>C (p.Trp1274Arg)
c.5813+518T>C (n.5813+518T>C)
c.5798+518T>C (n.5798+518T>C)
c.5858+518T>C (n.5858+518T>C)
c.5830T>C (p.Trp1944Arg)
2g.26460129A>TCA346127720OTOFc.5890T>A (p.Trp1964Arg)
c.3512+518T>A (n.3512+518T>A)
c.3649T>A (p.Trp1217Arg)
c.3589T>A (p.Trp1197Arg)
c.3820T>A (p.Trp1274Arg)
c.5813+518T>A (n.5813+518T>A)
c.5798+518T>A (n.5798+518T>A)
c.5858+518T>A (n.5858+518T>A)
c.5830T>A (p.Trp1944Arg)
2g.26460130G>ACA425206580OTOFc.5889C>T (p.Arg1963=)
c.3512+517C>T (n.3512+517C>T)
c.3648C>T (p.Arg1216=)
c.3588C>T (p.Arg1196=)
c.3819C>T (p.Arg1273=)
c.5813+517C>T (n.5813+517C>T)
c.5798+517C>T (n.5798+517C>T)
c.5858+517C>T (n.5858+517C>T)
c.5829C>T (p.Arg1943=)
2g.26460130G>CCA425206582OTOFc.5889C>G (p.Arg1963=)
c.3512+517C>G (n.3512+517C>G)
c.3648C>G (p.Arg1216=)
c.3588C>G (p.Arg1196=)
c.3819C>G (p.Arg1273=)
c.5813+517C>G (n.5813+517C>G)
c.5798+517C>G (n.5798+517C>G)
c.5858+517C>G (n.5858+517C>G)
c.5829C>G (p.Arg1943=)
2g.26460130G>TCA425206583OTOFc.5889C>A (p.Arg1963=)
c.3512+517C>A (n.3512+517C>A)
c.3648C>A (p.Arg1216=)
c.3588C>A (p.Arg1196=)
c.3819C>A (p.Arg1273=)
c.5813+517C>A (n.5813+517C>A)
c.5798+517C>A (n.5798+517C>A)
c.5858+517C>A (n.5858+517C>A)
c.5829C>A (p.Arg1943=)
2g.26460131C>ACA346127722OTOFc.5888G>T (p.Arg1963Leu)
c.3512+516G>T (n.3512+516G>T)
c.3647G>T (p.Arg1216Leu)
c.3587G>T (p.Arg1196Leu)
c.3818G>T (p.Arg1273Leu)
c.5813+516G>T (n.5813+516G>T)
c.5798+516G>T (n.5798+516G>T)
c.5858+516G>T (n.5858+516G>T)
c.5828G>T (p.Arg1943Leu)
 gnomAD v4
2g.26460131C=CA1239824063OTOFc.5888G= (p.Arg1963=)
c.3512+516G= (n.3512+516G=)
c.3647G= (p.Arg1216=)
c.3587G= (p.Arg1196=)
c.3818G= (p.Arg1273=)
c.5813+516G= (n.5813+516G=)
c.5798+516G= (n.5798+516G=)
c.5858+516G= (n.5858+516G=)
c.5828G= (p.Arg1943=)
2g.26460131C>GCA346127724OTOFc.5888G>C (p.Arg1963Pro)
c.3512+516G>C (n.3512+516G>C)
c.3647G>C (p.Arg1216Pro)
c.3587G>C (p.Arg1196Pro)
c.3818G>C (p.Arg1273Pro)
c.5813+516G>C (n.5813+516G>C)
c.5798+516G>C (n.5798+516G>C)
c.5858+516G>C (n.5858+516G>C)
c.5828G>C (p.Arg1943Pro)
2g.26460131C>TCA346127725OTOFc.5888G>A (p.Arg1963His)
c.3512+516G>A (n.3512+516G>A)
c.3647G>A (p.Arg1216His)
c.3587G>A (p.Arg1196His)
c.3818G>A (p.Arg1273His)
c.5813+516G>A (n.5813+516G>A)
c.5798+516G>A (n.5798+516G>A)
c.5858+516G>A (n.5858+516G>A)
c.5828G>A (p.Arg1943His)
 dbSNP gnomAD v2 gnomAD v4
2g.26460132G>ACA346127729OTOFc.5887C>T (p.Arg1963Cys)
c.3512+515C>T (n.3512+515C>T)
c.3646C>T (p.Arg1216Cys)
c.3586C>T (p.Arg1196Cys)
c.3817C>T (p.Arg1273Cys)
c.5813+515C>T (n.5813+515C>T)
c.5798+515C>T (n.5798+515C>T)
c.5858+515C>T (n.5858+515C>T)
c.5827C>T (p.Arg1943Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26460132G>CCA346127731OTOFc.5887C>G (p.Arg1963Gly)
c.3512+515C>G (n.3512+515C>G)
c.3646C>G (p.Arg1216Gly)
c.3586C>G (p.Arg1196Gly)
c.3817C>G (p.Arg1273Gly)
c.5813+515C>G (n.5813+515C>G)
c.5798+515C>G (n.5798+515C>G)
c.5858+515C>G (n.5858+515C>G)
c.5827C>G (p.Arg1943Gly)
2g.26460132G=CA1239824066OTOFc.5887C= (p.Arg1963=)
c.3512+515C= (n.3512+515C=)
c.3646C= (p.Arg1216=)
c.3586C= (p.Arg1196=)
c.3817C= (p.Arg1273=)
c.5813+515C= (n.5813+515C=)
c.5798+515C= (n.5798+515C=)
c.5858+515C= (n.5858+515C=)
c.5827C= (p.Arg1943=)
2g.26460132G>TCA1562663OTOFc.5887C>A (p.Arg1963Ser)
c.3512+515C>A (n.3512+515C>A)
c.3646C>A (p.Arg1216Ser)
c.3586C>A (p.Arg1196Ser)
c.3817C>A (p.Arg1273Ser)
c.5813+515C>A (n.5813+515C>A)
c.5798+515C>A (n.5798+515C>A)
c.5858+515C>A (n.5858+515C>A)
c.5827C>A (p.Arg1943Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched