Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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.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=)

Number of alleles fetched