Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)

Number of alleles fetched