Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.15218803G>ACA424866914NBASc.4388C>T
c.4426+13619C>T
c.913C>T
c.2258C>T
c.6402C>T (p.Ala2134=)
c.512+13619C>T (n.512+13619C>T)
c.3545C>T
n.6280+13619C>T
c.6273C>T (p.Ala2091=)
c.5763C>T (p.Ala1921=)
c.4203C>T (p.Ala1401=)
c.4194C>T (p.Ala1398=)
n.6266+13619C>T
2g.15218803G>CCA424866915NBASc.4388C>G
c.4426+13619C>G
c.913C>G
c.2258C>G
c.6402C>G (p.Ala2134=)
c.512+13619C>G (n.512+13619C>G)
c.3545C>G
n.6280+13619C>G
c.6273C>G (p.Ala2091=)
c.5763C>G (p.Ala1921=)
c.4203C>G (p.Ala1401=)
c.4194C>G (p.Ala1398=)
n.6266+13619C>G
2g.15218803G>TCA424866916NBASc.4388C>A
c.4426+13619C>A
c.913C>A
c.2258C>A
c.6402C>A (p.Ala2134=)
c.512+13619C>A (n.512+13619C>A)
c.3545C>A
n.6280+13619C>A
c.6273C>A (p.Ala2091=)
c.5763C>A (p.Ala1921=)
c.4203C>A (p.Ala1401=)
c.4194C>A (p.Ala1398=)
n.6266+13619C>A
2g.15218804G>ACA345883838NBASc.4387C>T
c.4426+13618C>T
c.912C>T
c.2257C>T
c.6401C>T (p.Ala2134Val)
c.512+13618C>T (n.512+13618C>T)
c.3544C>T
n.6280+13618C>T
c.6272C>T (p.Ala2091Val)
c.5762C>T (p.Ala1921Val)
c.4202C>T (p.Ala1401Val)
c.4193C>T (p.Ala1398Val)
n.6266+13618C>T
 COSMIC
2g.15218804G>CCA345883839NBASc.4387C>G
c.4426+13618C>G
c.912C>G
c.2257C>G
c.6401C>G (p.Ala2134Gly)
c.512+13618C>G (n.512+13618C>G)
c.3544C>G
n.6280+13618C>G
c.6272C>G (p.Ala2091Gly)
c.5762C>G (p.Ala1921Gly)
c.4202C>G (p.Ala1401Gly)
c.4193C>G (p.Ala1398Gly)
n.6266+13618C>G
2g.15218804G>TCA345883840NBASc.4387C>A
c.4426+13618C>A
c.912C>A
c.2257C>A
c.6401C>A (p.Ala2134Asp)
c.512+13618C>A (n.512+13618C>A)
c.3544C>A
n.6280+13618C>A
c.6272C>A (p.Ala2091Asp)
c.5762C>A (p.Ala1921Asp)
c.4202C>A (p.Ala1401Asp)
c.4193C>A (p.Ala1398Asp)
n.6266+13618C>A
2g.15218805C>ACA345883841NBASc.4386G>T
c.4426+13617G>T
c.911G>T
c.2256G>T
c.6400G>T (p.Ala2134Ser)
c.512+13617G>T (n.512+13617G>T)
c.3543G>T
n.6280+13617G>T
c.6271G>T (p.Ala2091Ser)
c.5761G>T (p.Ala1921Ser)
c.4201G>T (p.Ala1401Ser)
c.4192G>T (p.Ala1398Ser)
n.6266+13617G>T
2g.15218805C=CA2490796182NBASc.4386G=
c.4426+13617G=
c.911G=
c.2256G=
c.6400G= (p.Ala2134=)
c.512+13617G= (n.512+13617G=)
c.3543G=
n.6280+13617G=
c.6271G= (p.Ala2091=)
c.5761G= (p.Ala1921=)
c.4201G= (p.Ala1401=)
c.4192G= (p.Ala1398=)
n.6266+13617G=
2g.15218805C>GCA345883842NBASc.4386G>C
c.4426+13617G>C
c.911G>C
c.2256G>C
c.6400G>C (p.Ala2134Pro)
c.512+13617G>C (n.512+13617G>C)
c.3543G>C
n.6280+13617G>C
c.6271G>C (p.Ala2091Pro)
c.5761G>C (p.Ala1921Pro)
c.4201G>C (p.Ala1401Pro)
c.4192G>C (p.Ala1398Pro)
n.6266+13617G>C
2g.15218805C>TCA345883843NBASc.4386G>A
c.4426+13617G>A
c.911G>A
c.2256G>A
c.6400G>A (p.Ala2134Thr)
c.512+13617G>A (n.512+13617G>A)
c.3543G>A
n.6280+13617G>A
c.6271G>A (p.Ala2091Thr)
c.5761G>A (p.Ala1921Thr)
c.4201G>A (p.Ala1401Thr)
c.4192G>A (p.Ala1398Thr)
n.6266+13617G>A
 dbSNP gnomAD v2 gnomAD v4
2g.15218806T>ACA345883844NBASc.4385A>T
c.4426+13616A>T
c.910A>T
c.2255A>T
c.6399A>T (p.Glu2133Asp)
c.512+13616A>T (n.512+13616A>T)
c.3542A>T
n.6280+13616A>T
c.6270A>T (p.Glu2090Asp)
c.5760A>T (p.Glu1920Asp)
c.4200A>T (p.Glu1400Asp)
c.4191A>T (p.Glu1397Asp)
n.6266+13616A>T
2g.15218806T>CCA424866917NBASc.4385A>G
c.4426+13616A>G
c.910A>G
c.2255A>G
c.6399A>G (p.Glu2133=)
c.512+13616A>G (n.512+13616A>G)
c.3542A>G
n.6280+13616A>G
c.6270A>G (p.Glu2090=)
c.5760A>G (p.Glu1920=)
c.4200A>G (p.Glu1400=)
c.4191A>G (p.Glu1397=)
n.6266+13616A>G
2g.15218806T>GCA345883845NBASc.4385A>C
c.4426+13616A>C
c.910A>C
c.2255A>C
c.6399A>C (p.Glu2133Asp)
c.512+13616A>C (n.512+13616A>C)
c.3542A>C
n.6280+13616A>C
c.6270A>C (p.Glu2090Asp)
c.5760A>C (p.Glu1920Asp)
c.4200A>C (p.Glu1400Asp)
c.4191A>C (p.Glu1397Asp)
n.6266+13616A>C
2g.15218807T>ACA345883848NBASc.4384A>T
c.4426+13615A>T
c.909A>T
c.2254A>T
c.6398A>T (p.Glu2133Val)
c.512+13615A>T (n.512+13615A>T)
c.3541A>T
n.6280+13615A>T
c.6269A>T (p.Glu2090Val)
c.5759A>T (p.Glu1920Val)
c.4199A>T (p.Glu1400Val)
c.4190A>T (p.Glu1397Val)
n.6266+13615A>T
2g.15218807T>CCA345883859NBASc.4384A>G
c.4426+13615A>G
c.909A>G
c.2254A>G
c.6398A>G (p.Glu2133Gly)
c.512+13615A>G (n.512+13615A>G)
c.3541A>G
n.6280+13615A>G
c.6269A>G (p.Glu2090Gly)
c.5759A>G (p.Glu1920Gly)
c.4199A>G (p.Glu1400Gly)
c.4190A>G (p.Glu1397Gly)
n.6266+13615A>G
2g.15218807T>GCA42584312NBASc.4384A>C
c.4426+13615A>C
c.909A>C
c.2254A>C
c.6398A>C (p.Glu2133Ala)
c.512+13615A>C (n.512+13615A>C)
c.3541A>C
n.6280+13615A>C
c.6269A>C (p.Glu2090Ala)
c.5759A>C (p.Glu1920Ala)
c.4199A>C (p.Glu1400Ala)
c.4190A>C (p.Glu1397Ala)
n.6266+13615A>C
 dbSNP
2g.15218807T=CA2490796183NBASc.4384A=
c.4426+13615A=
c.909A=
c.2254A=
c.6398A= (p.Glu2133=)
c.512+13615A= (n.512+13615A=)
c.3541A=
n.6280+13615A=
c.6269A= (p.Glu2090=)
c.5759A= (p.Glu1920=)
c.4199A= (p.Glu1400=)
c.4190A= (p.Glu1397=)
n.6266+13615A=
2g.15218808C>ACA345883862NBASc.4383G>T
c.4426+13614G>T
c.908G>T
c.2253G>T
c.6397G>T (p.Glu2133Ter)
c.512+13614G>T (n.512+13614G>T)
c.3540G>T
n.6280+13614G>T
c.6268G>T (p.Glu2090Ter)
c.5758G>T (p.Glu1920Ter)
c.4198G>T (p.Glu1400Ter)
c.4189G>T (p.Glu1397Ter)
n.6266+13614G>T
2g.15218808C=CA2490796184NBASc.4383G=
c.4426+13614G=
c.908G=
c.2253G=
c.6397G= (p.Glu2133=)
c.512+13614G= (n.512+13614G=)
c.3540G=
n.6280+13614G=
c.6268G= (p.Glu2090=)
c.5758G= (p.Glu1920=)
c.4198G= (p.Glu1400=)
c.4189G= (p.Glu1397=)
n.6266+13614G=
2g.15218808C>GCA345883864NBASc.4383G>C
c.4426+13614G>C
c.908G>C
c.2253G>C
c.6397G>C (p.Glu2133Gln)
c.512+13614G>C (n.512+13614G>C)
c.3540G>C
n.6280+13614G>C
c.6268G>C (p.Glu2090Gln)
c.5758G>C (p.Glu1920Gln)
c.4198G>C (p.Glu1400Gln)
c.4189G>C (p.Glu1397Gln)
n.6266+13614G>C
2g.15218808C>TCA42584315NBASc.4383G>A
c.4426+13614G>A
c.908G>A
c.2253G>A
c.6397G>A (p.Glu2133Lys)
c.512+13614G>A (n.512+13614G>A)
c.3540G>A
n.6280+13614G>A
c.6268G>A (p.Glu2090Lys)
c.5758G>A (p.Glu1920Lys)
c.4198G>A (p.Glu1400Lys)
c.4189G>A (p.Glu1397Lys)
n.6266+13614G>A
 dbSNP
2g.15218809A>CCA424866920NBASc.4382T>G
c.4426+13613T>G
c.907T>G
c.2252T>G
c.6396T>G (p.Thr2132=)
c.512+13613T>G (n.512+13613T>G)
c.3539T>G
n.6280+13613T>G
c.6267T>G (p.Thr2089=)
c.5757T>G (p.Thr1919=)
c.4197T>G (p.Thr1399=)
c.4188T>G (p.Thr1396=)
n.6266+13613T>G
 COSMIC
2g.15218809A>GCA424866919NBASc.4382T>C
c.4426+13613T>C
c.907T>C
c.2252T>C
c.6396T>C (p.Thr2132=)
c.512+13613T>C (n.512+13613T>C)
c.3539T>C
n.6280+13613T>C
c.6267T>C (p.Thr2089=)
c.5757T>C (p.Thr1919=)
c.4197T>C (p.Thr1399=)
c.4188T>C (p.Thr1396=)
n.6266+13613T>C
 gnomAD v4
2g.15218809A>TCA424866918NBASc.4382T>A
c.4426+13613T>A
c.907T>A
c.2252T>A
c.6396T>A (p.Thr2132=)
c.512+13613T>A (n.512+13613T>A)
c.3539T>A
n.6280+13613T>A
c.6267T>A (p.Thr2089=)
c.5757T>A (p.Thr1919=)
c.4197T>A (p.Thr1399=)
c.4188T>A (p.Thr1396=)
n.6266+13613T>A
2g.15218810G>ACA345883881NBASc.4381C>T
c.4426+13612C>T
c.906C>T
c.2251C>T
c.6395C>T (p.Thr2132Ile)
c.512+13612C>T (n.512+13612C>T)
c.3538C>T
n.6280+13612C>T
c.6266C>T (p.Thr2089Ile)
c.5756C>T (p.Thr1919Ile)
c.4196C>T (p.Thr1399Ile)
c.4187C>T (p.Thr1396Ile)
n.6266+13612C>T
2g.15218810G>CCA345883865NBASc.4381C>G
c.4426+13612C>G
c.906C>G
c.2251C>G
c.6395C>G (p.Thr2132Ser)
c.512+13612C>G (n.512+13612C>G)
c.3538C>G
n.6280+13612C>G
c.6266C>G (p.Thr2089Ser)
c.5756C>G (p.Thr1919Ser)
c.4196C>G (p.Thr1399Ser)
c.4187C>G (p.Thr1396Ser)
n.6266+13612C>G
2g.15218810G>TCA345883879NBASc.4381C>A
c.4426+13612C>A
c.906C>A
c.2251C>A
c.6395C>A (p.Thr2132Asn)
c.512+13612C>A (n.512+13612C>A)
c.3538C>A
n.6280+13612C>A
c.6266C>A (p.Thr2089Asn)
c.5756C>A (p.Thr1919Asn)
c.4196C>A (p.Thr1399Asn)
c.4187C>A (p.Thr1396Asn)
n.6266+13612C>A
2g.15218811T>ACA345883882NBASc.4380A>T
c.4426+13611A>T
c.905A>T
c.2250A>T
c.6394A>T (p.Thr2132Ser)
c.512+13611A>T (n.512+13611A>T)
c.3537A>T
n.6280+13611A>T
c.6265A>T (p.Thr2089Ser)
c.5755A>T (p.Thr1919Ser)
c.4195A>T (p.Thr1399Ser)
c.4186A>T (p.Thr1396Ser)
n.6266+13611A>T
 dbSNP
2g.15218811T>CCA345883883NBASc.4380A>G
c.4426+13611A>G
c.905A>G
c.2250A>G
c.6394A>G (p.Thr2132Ala)
c.512+13611A>G (n.512+13611A>G)
c.3537A>G
n.6280+13611A>G
c.6265A>G (p.Thr2089Ala)
c.5755A>G (p.Thr1919Ala)
c.4195A>G (p.Thr1399Ala)
c.4186A>G (p.Thr1396Ala)
n.6266+13611A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.15218811T>GCA345883885NBASc.4380A>C
c.4426+13611A>C
c.905A>C
c.2250A>C
c.6394A>C (p.Thr2132Pro)
c.512+13611A>C (n.512+13611A>C)
c.3537A>C
n.6280+13611A>C
c.6265A>C (p.Thr2089Pro)
c.5755A>C (p.Thr1919Pro)
c.4195A>C (p.Thr1399Pro)
c.4186A>C (p.Thr1396Pro)
n.6266+13611A>C
2g.15218811T=CA2490796185NBASc.4380A=
c.4426+13611A=
c.905A=
c.2250A=
c.6394A= (p.Thr2132=)
c.512+13611A= (n.512+13611A=)
c.3537A=
n.6280+13611A=
c.6265A= (p.Thr2089=)
c.5755A= (p.Thr1919=)
c.4195A= (p.Thr1399=)
c.4186A= (p.Thr1396=)
n.6266+13611A=
2g.15218812T>ACA345883886NBASc.4379A>T
c.4426+13610A>T
c.904A>T
c.2249A>T
c.6393A>T (p.Arg2131Ser)
c.512+13610A>T (n.512+13610A>T)
c.3536A>T
n.6280+13610A>T
c.6264A>T (p.Arg2088Ser)
c.5754A>T (p.Arg1918Ser)
c.4194A>T (p.Arg1398Ser)
c.4185A>T (p.Arg1395Ser)
n.6266+13610A>T
2g.15218812T>CCA424866921NBASc.4379A>G
c.4426+13610A>G
c.904A>G
c.2249A>G
c.6393A>G (p.Arg2131=)
c.512+13610A>G (n.512+13610A>G)
c.3536A>G
n.6280+13610A>G
c.6264A>G (p.Arg2088=)
c.5754A>G (p.Arg1918=)
c.4194A>G (p.Arg1398=)
c.4185A>G (p.Arg1395=)
n.6266+13610A>G
 ClinVar
2g.15218812T>GCA345883888NBASc.4379A>C
c.4426+13610A>C
c.904A>C
c.2249A>C
c.6393A>C (p.Arg2131Ser)
c.512+13610A>C (n.512+13610A>C)
c.3536A>C
n.6280+13610A>C
c.6264A>C (p.Arg2088Ser)
c.5754A>C (p.Arg1918Ser)
c.4194A>C (p.Arg1398Ser)
c.4185A>C (p.Arg1395Ser)
n.6266+13610A>C
2g.15218813C>ACA345883890NBASc.4378G>T
c.4426+13609G>T
c.903G>T
c.2248G>T
c.6392G>T (p.Arg2131Ile)
c.512+13609G>T (n.512+13609G>T)
c.3535G>T
n.6280+13609G>T
c.6263G>T (p.Arg2088Ile)
c.5753G>T (p.Arg1918Ile)
c.4193G>T (p.Arg1398Ile)
c.4184G>T (p.Arg1395Ile)
n.6266+13609G>T
2g.15218813C>GCA345883897NBASc.4378G>C
c.4426+13609G>C
c.903G>C
c.2248G>C
c.6392G>C (p.Arg2131Thr)
c.512+13609G>C (n.512+13609G>C)
c.3535G>C
n.6280+13609G>C
c.6263G>C (p.Arg2088Thr)
c.5753G>C (p.Arg1918Thr)
c.4193G>C (p.Arg1398Thr)
c.4184G>C (p.Arg1395Thr)
n.6266+13609G>C
2g.15218813C>TCA345883892NBASc.4378G>A
c.4426+13609G>A
c.903G>A
c.2248G>A
c.6392G>A (p.Arg2131Lys)
c.512+13609G>A (n.512+13609G>A)
c.3535G>A
n.6280+13609G>A
c.6263G>A (p.Arg2088Lys)
c.5753G>A (p.Arg1918Lys)
c.4193G>A (p.Arg1398Lys)
c.4184G>A (p.Arg1395Lys)
n.6266+13609G>A
2g.15218814T>ACA345883900NBASc.4377A>T
c.4426+13608A>T
c.902A>T
c.2247A>T
c.6391A>T (p.Arg2131Ter)
c.512+13608A>T (n.512+13608A>T)
c.3534A>T
n.6280+13608A>T
c.6262A>T (p.Arg2088Ter)
c.5752A>T (p.Arg1918Ter)
c.4192A>T (p.Arg1398Ter)
c.4183A>T (p.Arg1395Ter)
n.6266+13608A>T
2g.15218814T>CCA345883901NBASc.4377A>G
c.4426+13608A>G
c.902A>G
c.2247A>G
c.6391A>G (p.Arg2131Gly)
c.512+13608A>G (n.512+13608A>G)
c.3534A>G
n.6280+13608A>G
c.6262A>G (p.Arg2088Gly)
c.5752A>G (p.Arg1918Gly)
c.4192A>G (p.Arg1398Gly)
c.4183A>G (p.Arg1395Gly)
n.6266+13608A>G
 dbSNP
2g.15218814T>GCA424866922NBASc.4377A>C
c.4426+13608A>C
c.902A>C
c.2247A>C
c.6391A>C (p.Arg2131=)
c.512+13608A>C (n.512+13608A>C)
c.3534A>C
n.6280+13608A>C
c.6262A>C (p.Arg2088=)
c.5752A>C (p.Arg1918=)
c.4192A>C (p.Arg1398=)
c.4183A>C (p.Arg1395=)
n.6266+13608A>C
 dbSNP gnomAD v2
2g.15218814T=CA2490796186NBASc.4377A=
c.4426+13608A=
c.902A=
c.2247A=
c.6391A= (p.Arg2131=)
c.512+13608A= (n.512+13608A=)
c.3534A=
n.6280+13608A=
c.6262A= (p.Arg2088=)
c.5752A= (p.Arg1918=)
c.4192A= (p.Arg1398=)
c.4183A= (p.Arg1395=)
n.6266+13608A=
2g.15218815A=CA2490796187NBASc.4376T=
c.4426+13607T=
c.901T=
c.2246T=
c.6390T= (p.Phe2130=)
c.512+13607T= (n.512+13607T=)
c.3533T=
n.6280+13607T=
c.6261T= (p.Phe2087=)
c.5751T= (p.Phe1917=)
c.4191T= (p.Phe1397=)
c.4182T= (p.Phe1394=)
n.6266+13607T=
2g.15218815A>CCA1535020NBASc.4376T>G
c.4426+13607T>G
c.901T>G
c.2246T>G
c.6390T>G (p.Phe2130Leu)
c.512+13607T>G (n.512+13607T>G)
c.3533T>G
n.6280+13607T>G
c.6261T>G (p.Phe2087Leu)
c.5751T>G (p.Phe1917Leu)
c.4191T>G (p.Phe1397Leu)
c.4182T>G (p.Phe1394Leu)
n.6266+13607T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.15218815A>GCA424866923NBASc.4376T>C
c.4426+13607T>C
c.901T>C
c.2246T>C
c.6390T>C (p.Phe2130=)
c.512+13607T>C (n.512+13607T>C)
c.3533T>C
n.6280+13607T>C
c.6261T>C (p.Phe2087=)
c.5751T>C (p.Phe1917=)
c.4191T>C (p.Phe1397=)
c.4182T>C (p.Phe1394=)
n.6266+13607T>C
2g.15218815A>TCA345883903NBASc.4376T>A
c.4426+13607T>A
c.901T>A
c.2246T>A
c.6390T>A (p.Phe2130Leu)
c.512+13607T>A (n.512+13607T>A)
c.3533T>A
n.6280+13607T>A
c.6261T>A (p.Phe2087Leu)
c.5751T>A (p.Phe1917Leu)
c.4191T>A (p.Phe1397Leu)
c.4182T>A (p.Phe1394Leu)
n.6266+13607T>A
 gnomAD v4
2g.15218815_15218821delinsAAAGAACCA2490796188NBASc.4370_4376delinsGTTCTTT
c.4426+13601_4426+13607delinsGTTCTTT
c.895_901delinsGTTCTTT
c.2240_2246delinsGTTCTTT
c.6384_6390delinsGTTCTTT (p.Val2128=)
c.512+13601_512+13607delinsGTTCTTT (n.512+13601_512+13607delinsGTTCTTT)
c.3527_3533delinsGTTCTTT
n.6280+13601_6280+13607delinsGTTCTTT
c.6255_6261delinsGTTCTTT (p.Val2085=)
c.5745_5751delinsGTTCTTT (p.Val1915=)
c.4185_4191delinsGTTCTTT (p.Val1395=)
c.4176_4182delinsGTTCTTT (p.Val1392=)
n.6266+13601_6266+13607delinsGTTCTTT
2g.15218816A=CA2490796190NBASc.4375T=
c.4426+13606T=
c.900T=
c.2245T=
c.6389T= (p.Phe2130=)
c.512+13606T= (n.512+13606T=)
c.3532T=
n.6280+13606T=
c.6260T= (p.Phe2087=)
c.5750T= (p.Phe1917=)
c.4190T= (p.Phe1397=)
c.4181T= (p.Phe1394=)
n.6266+13606T=
2g.15218816A>CCA345883905NBASc.4375T>G
c.4426+13606T>G
c.900T>G
c.2245T>G
c.6389T>G (p.Phe2130Cys)
c.512+13606T>G (n.512+13606T>G)
c.3532T>G
n.6280+13606T>G
c.6260T>G (p.Phe2087Cys)
c.5750T>G (p.Phe1917Cys)
c.4190T>G (p.Phe1397Cys)
c.4181T>G (p.Phe1394Cys)
n.6266+13606T>G
 dbSNP
2g.15218816A>GCA345883913NBASc.4375T>C
c.4426+13606T>C
c.900T>C
c.2245T>C
c.6389T>C (p.Phe2130Ser)
c.512+13606T>C (n.512+13606T>C)
c.3532T>C
n.6280+13606T>C
c.6260T>C (p.Phe2087Ser)
c.5750T>C (p.Phe1917Ser)
c.4190T>C (p.Phe1397Ser)
c.4181T>C (p.Phe1394Ser)
n.6266+13606T>C
2g.15218816A>TCA345883910NBASc.4375T>A
c.4426+13606T>A
c.900T>A
c.2245T>A
c.6389T>A (p.Phe2130Tyr)
c.512+13606T>A (n.512+13606T>A)
c.3532T>A
n.6280+13606T>A
c.6260T>A (p.Phe2087Tyr)
c.5750T>A (p.Phe1917Tyr)
c.4190T>A (p.Phe1397Tyr)
c.4181T>A (p.Phe1394Tyr)
n.6266+13606T>A
2g.15218817_15218822delCA2490796189NBASc.4370_4375del
c.4426+13601_4426+13606del
c.895_900del
c.2240_2245del
c.6384_6389del (p.Phe2129_Phe2130del)
c.512+13601_512+13606del (n.512+13601_512+13606del)
c.3527_3532del
n.6280+13601_6280+13606del
c.6255_6260del (p.Phe2086_Phe2087del)
c.5745_5750del (p.Phe1916_Phe1917del)
c.4185_4190del (p.Phe1396_Phe1397del)
c.4176_4181del (p.Phe1393_Phe1394del)
n.6266+13601_6266+13606del
 dbSNP gnomAD v4
2g.15218817A>CCA345883915NBASc.4374T>G
c.4426+13605T>G
c.899T>G
c.2244T>G
c.6388T>G (p.Phe2130Val)
c.512+13605T>G (n.512+13605T>G)
c.3531T>G
n.6280+13605T>G
c.6259T>G (p.Phe2087Val)
c.5749T>G (p.Phe1917Val)
c.4189T>G (p.Phe1397Val)
c.4180T>G (p.Phe1394Val)
n.6266+13605T>G
2g.15218817A>GCA345883917NBASc.4374T>C
c.4426+13605T>C
c.899T>C
c.2244T>C
c.6388T>C (p.Phe2130Leu)
c.512+13605T>C (n.512+13605T>C)
c.3531T>C
n.6280+13605T>C
c.6259T>C (p.Phe2087Leu)
c.5749T>C (p.Phe1917Leu)
c.4189T>C (p.Phe1397Leu)
c.4180T>C (p.Phe1394Leu)
n.6266+13605T>C
 gnomAD v4
2g.15218817A>TCA345883918NBASc.4374T>A
c.4426+13605T>A
c.899T>A
c.2244T>A
c.6388T>A (p.Phe2130Ile)
c.512+13605T>A (n.512+13605T>A)
c.3531T>A
n.6280+13605T>A
c.6259T>A (p.Phe2087Ile)
c.5749T>A (p.Phe1917Ile)
c.4189T>A (p.Phe1397Ile)
c.4180T>A (p.Phe1394Ile)
n.6266+13605T>A
2g.15218818G>ACA424866924NBASc.4373C>T
c.4426+13604C>T
c.898C>T
c.2243C>T
c.6387C>T (p.Phe2129=)
c.512+13604C>T (n.512+13604C>T)
c.3530C>T
n.6280+13604C>T
c.6258C>T (p.Phe2086=)
c.5748C>T (p.Phe1916=)
c.4188C>T (p.Phe1396=)
c.4179C>T (p.Phe1393=)
n.6266+13604C>T
2g.15218818G>CCA345883920NBASc.4373C>G
c.4426+13604C>G
c.898C>G
c.2243C>G
c.6387C>G (p.Phe2129Leu)
c.512+13604C>G (n.512+13604C>G)
c.3530C>G
n.6280+13604C>G
c.6258C>G (p.Phe2086Leu)
c.5748C>G (p.Phe1916Leu)
c.4188C>G (p.Phe1396Leu)
c.4179C>G (p.Phe1393Leu)
n.6266+13604C>G
2g.15218818G>TCA345883923NBASc.4373C>A
c.4426+13604C>A
c.898C>A
c.2243C>A
c.6387C>A (p.Phe2129Leu)
c.512+13604C>A (n.512+13604C>A)
c.3530C>A
n.6280+13604C>A
c.6258C>A (p.Phe2086Leu)
c.5748C>A (p.Phe1916Leu)
c.4188C>A (p.Phe1396Leu)
c.4179C>A (p.Phe1393Leu)
n.6266+13604C>A
2g.15218819A>CCA345883928NBASc.4372T>G
c.4426+13603T>G
c.897T>G
c.2242T>G
c.6386T>G (p.Phe2129Cys)
c.512+13603T>G (n.512+13603T>G)
c.3529T>G
n.6280+13603T>G
c.6257T>G (p.Phe2086Cys)
c.5747T>G (p.Phe1916Cys)
c.4187T>G (p.Phe1396Cys)
c.4178T>G (p.Phe1393Cys)
n.6266+13603T>G
2g.15218819A>GCA345883930NBASc.4372T>C
c.4426+13603T>C
c.897T>C
c.2242T>C
c.6386T>C (p.Phe2129Ser)
c.512+13603T>C (n.512+13603T>C)
c.3529T>C
n.6280+13603T>C
c.6257T>C (p.Phe2086Ser)
c.5747T>C (p.Phe1916Ser)
c.4187T>C (p.Phe1396Ser)
c.4178T>C (p.Phe1393Ser)
n.6266+13603T>C
2g.15218819A>TCA345883936NBASc.4372T>A
c.4426+13603T>A
c.897T>A
c.2242T>A
c.6386T>A (p.Phe2129Tyr)
c.512+13603T>A (n.512+13603T>A)
c.3529T>A
n.6280+13603T>A
c.6257T>A (p.Phe2086Tyr)
c.5747T>A (p.Phe1916Tyr)
c.4187T>A (p.Phe1396Tyr)
c.4178T>A (p.Phe1393Tyr)
n.6266+13603T>A
2g.15218820A=CA2490796191NBASc.4371T=
c.4426+13602T=
c.896T=
c.2241T=
c.6385T= (p.Phe2129=)
c.512+13602T= (n.512+13602T=)
c.3528T=
n.6280+13602T=
c.6256T= (p.Phe2086=)
c.5746T= (p.Phe1916=)
c.4186T= (p.Phe1396=)
c.4177T= (p.Phe1393=)
n.6266+13602T=
2g.15218820A>CCA345883938NBASc.4371T>G
c.4426+13602T>G
c.896T>G
c.2241T>G
c.6385T>G (p.Phe2129Val)
c.512+13602T>G (n.512+13602T>G)
c.3528T>G
n.6280+13602T>G
c.6256T>G (p.Phe2086Val)
c.5746T>G (p.Phe1916Val)
c.4186T>G (p.Phe1396Val)
c.4177T>G (p.Phe1393Val)
n.6266+13602T>G
2g.15218820A>GCA1535021NBASc.4371T>C
c.4426+13602T>C
c.896T>C
c.2241T>C
c.6385T>C (p.Phe2129Leu)
c.512+13602T>C (n.512+13602T>C)
c.3528T>C
n.6280+13602T>C
c.6256T>C (p.Phe2086Leu)
c.5746T>C (p.Phe1916Leu)
c.4186T>C (p.Phe1396Leu)
c.4177T>C (p.Phe1393Leu)
n.6266+13602T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.15218820A>TCA345883946NBASc.4371T>A
c.4426+13602T>A
c.896T>A
c.2241T>A
c.6385T>A (p.Phe2129Ile)
c.512+13602T>A (n.512+13602T>A)
c.3528T>A
n.6280+13602T>A
c.6256T>A (p.Phe2086Ile)
c.5746T>A (p.Phe1916Ile)
c.4186T>A (p.Phe1396Ile)
c.4177T>A (p.Phe1393Ile)
n.6266+13602T>A
2g.15218821C>ACA424866925NBASc.4370G>T
c.4426+13601G>T
c.895G>T
c.2240G>T
c.6384G>T (p.Val2128=)
c.512+13601G>T (n.512+13601G>T)
c.3527G>T
n.6280+13601G>T
c.6255G>T (p.Val2085=)
c.5745G>T (p.Val1915=)
c.4185G>T (p.Val1395=)
c.4176G>T (p.Val1392=)
n.6266+13601G>T
2g.15218821C>GCA424866926NBASc.4370G>C
c.4426+13601G>C
c.895G>C
c.2240G>C
c.6384G>C (p.Val2128=)
c.512+13601G>C (n.512+13601G>C)
c.3527G>C
n.6280+13601G>C
c.6255G>C (p.Val2085=)
c.5745G>C (p.Val1915=)
c.4185G>C (p.Val1395=)
c.4176G>C (p.Val1392=)
n.6266+13601G>C
2g.15218821C>TCA424866927NBASc.4370G>A
c.4426+13601G>A
c.895G>A
c.2240G>A
c.6384G>A (p.Val2128=)
c.512+13601G>A (n.512+13601G>A)
c.3527G>A
n.6280+13601G>A
c.6255G>A (p.Val2085=)
c.5745G>A (p.Val1915=)
c.4185G>A (p.Val1395=)
c.4176G>A (p.Val1392=)
n.6266+13601G>A
2g.15218821_15218822insCATGCATATGCATGTTCAAGCTTATGGAAAAATAAAAATAAATTTCGTTGTCA2748957405NBASc.4369_4370insACAACGAAATTTATTTTTATTTTTCCATAAGCTTGAACATGCATATGCATG
c.4426+13600_4426+13601insACAACGAAATTTATTTTTATTTTTCCATAAGCTTGAACATGCATATGCATG
c.894_895insACAACGAAATTTATTTTTATTTTTCCATAAGCTTGAACATGCATATGCATG
c.2239_2240insACAACGAAATTTATTTTTATTTTTCCATAAGCTTGAACATGCATATGCATG
c.6383_6384insACAACGAAATTTATTTTTATTTTTCCATAAGCTTGAACATGCATATGCATG (p.Val2128_Phe2129insGlnArgAsnLeuPheLeuPhePheHisLysLeuGluHisAlaTyrAlaTrp)
c.512+13600_512+13601insACAACGAAATTTATTTTTATTTTTCCATAAGCTTGAACATGCATATGCATG (n.512+13600_512+13601insACAACGAAATTTATTTTTATTTTTCCATAAGCTTGAACATGCATATGCATG)
c.3526_3527insACAACGAAATTTATTTTTATTTTTCCATAAGCTTGAACATGCATATGCATG
n.6280+13600_6280+13601insACAACGAAATTTATTTTTATTTTTCCATAAGCTTGAACATGCATATGCATG
c.6254_6255insACAACGAAATTTATTTTTATTTTTCCATAAGCTTGAACATGCATATGCATG (p.Val2085_Phe2086insGlnArgAsnLeuPheLeuPhePheHisLysLeuGluHisAlaTyrAlaTrp)
c.5744_5745insACAACGAAATTTATTTTTATTTTTCCATAAGCTTGAACATGCATATGCATG (p.Val1915_Phe1916insGlnArgAsnLeuPheLeuPhePheHisLysLeuGluHisAlaTyrAlaTrp)
c.4184_4185insACAACGAAATTTATTTTTATTTTTCCATAAGCTTGAACATGCATATGCATG (p.Val1395_Phe1396insGlnArgAsnLeuPheLeuPhePheHisLysLeuGluHisAlaTyrAlaTrp)
c.4175_4176insACAACGAAATTTATTTTTATTTTTCCATAAGCTTGAACATGCATATGCATG (p.Val1392_Phe1393insGlnArgAsnLeuPheLeuPhePheHisLysLeuGluHisAlaTyrAlaTrp)
n.6266+13600_6266+13601insACAACGAAATTTATTTTTATTTTTCCATAAGCTTGAACATGCATATGCATG
2g.15218822A>CCA345883964NBASc.4369T>G
c.4426+13600T>G
c.894T>G
c.2239T>G
c.6383T>G (p.Val2128Gly)
c.512+13600T>G (n.512+13600T>G)
c.3526T>G
n.6280+13600T>G
c.6254T>G (p.Val2085Gly)
c.5744T>G (p.Val1915Gly)
c.4184T>G (p.Val1395Gly)
c.4175T>G (p.Val1392Gly)
n.6266+13600T>G
2g.15218822A>GCA345883960NBASc.4369T>C
c.4426+13600T>C
c.894T>C
c.2239T>C
c.6383T>C (p.Val2128Ala)
c.512+13600T>C (n.512+13600T>C)
c.3526T>C
n.6280+13600T>C
c.6254T>C (p.Val2085Ala)
c.5744T>C (p.Val1915Ala)
c.4184T>C (p.Val1395Ala)
c.4175T>C (p.Val1392Ala)
n.6266+13600T>C
2g.15218822A>TCA345883954NBASc.4369T>A
c.4426+13600T>A
c.894T>A
c.2239T>A
c.6383T>A (p.Val2128Glu)
c.512+13600T>A (n.512+13600T>A)
c.3526T>A
n.6280+13600T>A
c.6254T>A (p.Val2085Glu)
c.5744T>A (p.Val1915Glu)
c.4184T>A (p.Val1395Glu)
c.4175T>A (p.Val1392Glu)
n.6266+13600T>A
2g.15218823C>ACA1535022NBASc.4368G>T
c.4426+13599G>T
c.893G>T
c.2238G>T
c.6382G>T (p.Val2128Leu)
c.512+13599G>T (n.512+13599G>T)
c.3525G>T
n.6280+13599G>T
c.6253G>T (p.Val2085Leu)
c.5743G>T (p.Val1915Leu)
c.4183G>T (p.Val1395Leu)
c.4174G>T (p.Val1392Leu)
n.6266+13599G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.15218823C=CA2490796192NBASc.4368G=
c.4426+13599G=
c.893G=
c.2238G=
c.6382G= (p.Val2128=)
c.512+13599G= (n.512+13599G=)
c.3525G=
n.6280+13599G=
c.6253G= (p.Val2085=)
c.5743G= (p.Val1915=)
c.4183G= (p.Val1395=)
c.4174G= (p.Val1392=)
n.6266+13599G=
2g.15218823C>GCA42584333NBASc.4368G>C
c.4426+13599G>C
c.893G>C
c.2238G>C
c.6382G>C (p.Val2128Leu)
c.512+13599G>C (n.512+13599G>C)
c.3525G>C
n.6280+13599G>C
c.6253G>C (p.Val2085Leu)
c.5743G>C (p.Val1915Leu)
c.4183G>C (p.Val1395Leu)
c.4174G>C (p.Val1392Leu)
n.6266+13599G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.15218823C>TCA1535023NBASc.4368G>A
c.4426+13599G>A
c.893G>A
c.2238G>A
c.6382G>A (p.Val2128Met)
c.512+13599G>A (n.512+13599G>A)
c.3525G>A
n.6280+13599G>A
c.6253G>A (p.Val2085Met)
c.5743G>A (p.Val1915Met)
c.4183G>A (p.Val1395Met)
c.4174G>A (p.Val1392Met)
n.6266+13599G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.15218823_15218824insATATTCAAGTACTAAATAGCTCA2748957406NBASc.4367_4368insAGCTATTTAGTACTTGAATAT
c.4426+13598_4426+13599insAGCTATTTAGTACTTGAATAT
c.892_893insAGCTATTTAGTACTTGAATAT
c.2237_2238insAGCTATTTAGTACTTGAATAT
c.6381_6382insAGCTATTTAGTACTTGAATAT (p.Leu2127_Val2128insSerTyrLeuValLeuGluTyr)
c.512+13598_512+13599insAGCTATTTAGTACTTGAATAT (n.512+13598_512+13599insAGCTATTTAGTACTTGAATAT)
c.3524_3525insAGCTATTTAGTACTTGAATAT
n.6280+13598_6280+13599insAGCTATTTAGTACTTGAATAT
c.6252_6253insAGCTATTTAGTACTTGAATAT (p.Leu2084_Val2085insSerTyrLeuValLeuGluTyr)
c.5742_5743insAGCTATTTAGTACTTGAATAT (p.Leu1914_Val1915insSerTyrLeuValLeuGluTyr)
c.4182_4183insAGCTATTTAGTACTTGAATAT (p.Leu1394_Val1395insSerTyrLeuValLeuGluTyr)
c.4173_4174insAGCTATTTAGTACTTGAATAT (p.Leu1391_Val1392insSerTyrLeuValLeuGluTyr)
n.6266+13598_6266+13599insAGCTATTTAGTACTTGAATAT
2g.15218824G>ACA1535024NBASc.4367C>T
c.4426+13598C>T
c.892C>T
c.2237C>T
c.6381C>T (p.Leu2127=)
c.512+13598C>T (n.512+13598C>T)
c.3524C>T
n.6280+13598C>T
c.6252C>T (p.Leu2084=)
c.5742C>T (p.Leu1914=)
c.4182C>T (p.Leu1394=)
c.4173C>T (p.Leu1391=)
n.6266+13598C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.15218824G>CCA424866928NBASc.4367C>G
c.4426+13598C>G
c.892C>G
c.2237C>G
c.6381C>G (p.Leu2127=)
c.512+13598C>G (n.512+13598C>G)
c.3524C>G
n.6280+13598C>G
c.6252C>G (p.Leu2084=)
c.5742C>G (p.Leu1914=)
c.4182C>G (p.Leu1394=)
c.4173C>G (p.Leu1391=)
n.6266+13598C>G
2g.15218824G=CA2490796193NBASc.4367C=
c.4426+13598C=
c.892C=
c.2237C=
c.6381C= (p.Leu2127=)
c.512+13598C= (n.512+13598C=)
c.3524C=
n.6280+13598C=
c.6252C= (p.Leu2084=)
c.5742C= (p.Leu1914=)
c.4182C= (p.Leu1394=)
c.4173C= (p.Leu1391=)
n.6266+13598C=
2g.15218824G>TCA42584345NBASc.4367C>A
c.4426+13598C>A
c.892C>A
c.2237C>A
c.6381C>A (p.Leu2127=)
c.512+13598C>A (n.512+13598C>A)
c.3524C>A
n.6280+13598C>A
c.6252C>A (p.Leu2084=)
c.5742C>A (p.Leu1914=)
c.4182C>A (p.Leu1394=)
c.4173C>A (p.Leu1391=)
n.6266+13598C>A
 dbSNP gnomAD v4
2g.15218825A=CA2490796194NBASc.4366T=
c.4426+13597T=
c.891T=
c.2236T=
c.6380T= (p.Leu2127=)
c.512+13597T= (n.512+13597T=)
c.3523T=
n.6280+13597T=
c.6251T= (p.Leu2084=)
c.5741T= (p.Leu1914=)
c.4181T= (p.Leu1394=)
c.4172T= (p.Leu1391=)
n.6266+13597T=
2g.15218825A>CCA345883983NBASc.4366T>G
c.4426+13597T>G
c.891T>G
c.2236T>G
c.6380T>G (p.Leu2127Arg)
c.512+13597T>G (n.512+13597T>G)
c.3523T>G
n.6280+13597T>G
c.6251T>G (p.Leu2084Arg)
c.5741T>G (p.Leu1914Arg)
c.4181T>G (p.Leu1394Arg)
c.4172T>G (p.Leu1391Arg)
n.6266+13597T>G
2g.15218825A>GCA345883981NBASc.4366T>C
c.4426+13597T>C
c.891T>C
c.2236T>C
c.6380T>C (p.Leu2127Pro)
c.512+13597T>C (n.512+13597T>C)
c.3523T>C
n.6280+13597T>C
c.6251T>C (p.Leu2084Pro)
c.5741T>C (p.Leu1914Pro)
c.4181T>C (p.Leu1394Pro)
c.4172T>C (p.Leu1391Pro)
n.6266+13597T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.15218825A>TCA345883978NBASc.4366T>A
c.4426+13597T>A
c.891T>A
c.2236T>A
c.6380T>A (p.Leu2127His)
c.512+13597T>A (n.512+13597T>A)
c.3523T>A
n.6280+13597T>A
c.6251T>A (p.Leu2084His)
c.5741T>A (p.Leu1914His)
c.4181T>A (p.Leu1394His)
c.4172T>A (p.Leu1391His)
n.6266+13597T>A
2g.15218825_15218826insTTGATATATATACTCA2748957407NBASc.4365_4366insAGTATATATATCAA
c.4426+13596_4426+13597insAGTATATATATCAA
c.890_891insAGTATATATATCAA
c.2235_2236insAGTATATATATCAA
c.6379_6380insAGTATATATATCAA (p.Leu2127GlnfsTer24)
c.512+13596_512+13597insAGTATATATATCAA (n.512+13596_512+13597insAGTATATATATCAA)
c.3522_3523insAGTATATATATCAA
n.6280+13596_6280+13597insAGTATATATATCAA
c.6250_6251insAGTATATATATCAA (p.Leu2084GlnfsTer24)
c.5740_5741insAGTATATATATCAA (p.Leu1914GlnfsTer24)
c.4180_4181insAGTATATATATCAA (p.Leu1394GlnfsTer24)
c.4171_4172insAGTATATATATCAA (p.Leu1391GlnfsTer24)
n.6266+13596_6266+13597insAGTATATATATCAA
2g.15218826G>ACA345883987NBASc.4365C>T
c.4426+13596C>T
c.890C>T
c.2235C>T
c.6379C>T (p.Leu2127Phe)
c.512+13596C>T (n.512+13596C>T)
c.3522C>T
n.6280+13596C>T
c.6250C>T (p.Leu2084Phe)
c.5740C>T (p.Leu1914Phe)
c.4180C>T (p.Leu1394Phe)
c.4171C>T (p.Leu1391Phe)
n.6266+13596C>T
 dbSNP
2g.15218826G>CCA1535025NBASc.4365C>G
c.4426+13596C>G
c.890C>G
c.2235C>G
c.6379C>G (p.Leu2127Val)
c.512+13596C>G (n.512+13596C>G)
c.3522C>G
n.6280+13596C>G
c.6250C>G (p.Leu2084Val)
c.5740C>G (p.Leu1914Val)
c.4180C>G (p.Leu1394Val)
c.4171C>G (p.Leu1391Val)
n.6266+13596C>G
 dbSNP ExAC gnomAD v2
2g.15218826G=CA2490796195NBASc.4365C=
c.4426+13596C=
c.890C=
c.2235C=
c.6379C= (p.Leu2127=)
c.512+13596C= (n.512+13596C=)
c.3522C=
n.6280+13596C=
c.6250C= (p.Leu2084=)
c.5740C= (p.Leu1914=)
c.4180C= (p.Leu1394=)
c.4171C= (p.Leu1391=)
n.6266+13596C=
2g.15218826G>TCA345883995NBASc.4365C>A
c.4426+13596C>A
c.890C>A
c.2235C>A
c.6379C>A (p.Leu2127Ile)
c.512+13596C>A (n.512+13596C>A)
c.3522C>A
n.6280+13596C>A
c.6250C>A (p.Leu2084Ile)
c.5740C>A (p.Leu1914Ile)
c.4180C>A (p.Leu1394Ile)
c.4171C>A (p.Leu1391Ile)
n.6266+13596C>A
2g.15218827G>ACA42584350NBASc.4364C>T
c.4426+13595C>T
c.889C>T
c.2234C>T
c.6378C>T (p.Leu2126=)
c.512+13595C>T (n.512+13595C>T)
c.3521C>T
n.6280+13595C>T
c.6249C>T (p.Leu2083=)
c.5739C>T (p.Leu1913=)
c.4179C>T (p.Leu1393=)
c.4170C>T (p.Leu1390=)
n.6266+13595C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.15218827G>CCA424866929NBASc.4364C>G
c.4426+13595C>G
c.889C>G
c.2234C>G
c.6378C>G (p.Leu2126=)
c.512+13595C>G (n.512+13595C>G)
c.3521C>G
n.6280+13595C>G
c.6249C>G (p.Leu2083=)
c.5739C>G (p.Leu1913=)
c.4179C>G (p.Leu1393=)
c.4170C>G (p.Leu1390=)
n.6266+13595C>G
2g.15218827G=CA2490796196NBASc.4364C=
c.4426+13595C=
c.889C=
c.2234C=
c.6378C= (p.Leu2126=)
c.512+13595C= (n.512+13595C=)
c.3521C=
n.6280+13595C=
c.6249C= (p.Leu2083=)
c.5739C= (p.Leu1913=)
c.4179C= (p.Leu1393=)
c.4170C= (p.Leu1390=)
n.6266+13595C=
2g.15218827G>TCA424866930NBASc.4364C>A
c.4426+13595C>A
c.889C>A
c.2234C>A
c.6378C>A (p.Leu2126=)
c.512+13595C>A (n.512+13595C>A)
c.3521C>A
n.6280+13595C>A
c.6249C>A (p.Leu2083=)
c.5739C>A (p.Leu1913=)
c.4179C>A (p.Leu1393=)
c.4170C>A (p.Leu1390=)
n.6266+13595C>A
2g.15218828A>CCA345884001NBASc.4363T>G
c.4426+13594T>G
c.888T>G
c.2233T>G
c.6377T>G (p.Leu2126Arg)
c.512+13594T>G (n.512+13594T>G)
c.3520T>G
n.6280+13594T>G
c.6248T>G (p.Leu2083Arg)
c.5738T>G (p.Leu1913Arg)
c.4178T>G (p.Leu1393Arg)
c.4169T>G (p.Leu1390Arg)
n.6266+13594T>G
2g.15218828A>GCA345884009NBASc.4363T>C
c.4426+13594T>C
c.888T>C
c.2233T>C
c.6377T>C (p.Leu2126Pro)
c.512+13594T>C (n.512+13594T>C)
c.3520T>C
n.6280+13594T>C
c.6248T>C (p.Leu2083Pro)
c.5738T>C (p.Leu1913Pro)
c.4178T>C (p.Leu1393Pro)
c.4169T>C (p.Leu1390Pro)
n.6266+13594T>C
2g.15218828A>TCA345884012NBASc.4363T>A
c.4426+13594T>A
c.888T>A
c.2233T>A
c.6377T>A (p.Leu2126His)
c.512+13594T>A (n.512+13594T>A)
c.3520T>A
n.6280+13594T>A
c.6248T>A (p.Leu2083His)
c.5738T>A (p.Leu1913His)
c.4178T>A (p.Leu1393His)
c.4169T>A (p.Leu1390His)
n.6266+13594T>A
2g.15218829G>ACA345884020NBASc.4362C>T
c.4426+13593C>T
c.887C>T
c.2232C>T
c.6376C>T (p.Leu2126Phe)
c.512+13593C>T (n.512+13593C>T)
c.3519C>T
n.6280+13593C>T
c.6247C>T (p.Leu2083Phe)
c.5737C>T (p.Leu1913Phe)
c.4177C>T (p.Leu1393Phe)
c.4168C>T (p.Leu1390Phe)
n.6266+13593C>T
 dbSNP gnomAD v3 gnomAD v4
2g.15218829G>CCA345884028NBASc.4362C>G
c.4426+13593C>G
c.887C>G
c.2232C>G
c.6376C>G (p.Leu2126Val)
c.512+13593C>G (n.512+13593C>G)
c.3519C>G
n.6280+13593C>G
c.6247C>G (p.Leu2083Val)
c.5737C>G (p.Leu1913Val)
c.4177C>G (p.Leu1393Val)
c.4168C>G (p.Leu1390Val)
n.6266+13593C>G
2g.15218829G=CA2490796197NBASc.4362C=
c.4426+13593C=
c.887C=
c.2232C=
c.6376C= (p.Leu2126=)
c.512+13593C= (n.512+13593C=)
c.3519C=
n.6280+13593C=
c.6247C= (p.Leu2083=)
c.5737C= (p.Leu1913=)
c.4177C= (p.Leu1393=)
c.4168C= (p.Leu1390=)
n.6266+13593C=
2g.15218829G>TCA345884026NBASc.4362C>A
c.4426+13593C>A
c.887C>A
c.2232C>A
c.6376C>A (p.Leu2126Ile)
c.512+13593C>A (n.512+13593C>A)
c.3519C>A
n.6280+13593C>A
c.6247C>A (p.Leu2083Ile)
c.5737C>A (p.Leu1913Ile)
c.4177C>A (p.Leu1393Ile)
c.4168C>A (p.Leu1390Ile)
n.6266+13593C>A
2g.15218830C>ACA345884044NBASc.4361G>T
c.4426+13592G>T
c.886G>T
c.2231G>T
c.6375G>T (p.Lys2125Asn)
c.512+13592G>T (n.512+13592G>T)
c.3518G>T
n.6280+13592G>T
c.6246G>T (p.Lys2082Asn)
c.5736G>T (p.Lys1912Asn)
c.4176G>T (p.Lys1392Asn)
c.4167G>T (p.Lys1389Asn)
n.6266+13592G>T
2g.15218830C=CA2490796198NBASc.4361G=
c.4426+13592G=
c.886G=
c.2231G=
c.6375G= (p.Lys2125=)
c.512+13592G= (n.512+13592G=)
c.3518G=
n.6280+13592G=
c.6246G= (p.Lys2082=)
c.5736G= (p.Lys1912=)
c.4176G= (p.Lys1392=)
c.4167G= (p.Lys1389=)
n.6266+13592G=
2g.15218830C>GCA345884046NBASc.4361G>C
c.4426+13592G>C
c.886G>C
c.2231G>C
c.6375G>C (p.Lys2125Asn)
c.512+13592G>C (n.512+13592G>C)
c.3518G>C
n.6280+13592G>C
c.6246G>C (p.Lys2082Asn)
c.5736G>C (p.Lys1912Asn)
c.4176G>C (p.Lys1392Asn)
c.4167G>C (p.Lys1389Asn)
n.6266+13592G>C
2g.15218830C>TCA1535026NBASc.4361G>A
c.4426+13592G>A
c.886G>A
c.2231G>A
c.6375G>A (p.Lys2125=)
c.512+13592G>A (n.512+13592G>A)
c.3518G>A
n.6280+13592G>A
c.6246G>A (p.Lys2082=)
c.5736G>A (p.Lys1912=)
c.4176G>A (p.Lys1392=)
c.4167G>A (p.Lys1389=)
n.6266+13592G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.15218831T>ACA345884047NBASc.4360A>T
c.4426+13591A>T
c.885A>T
c.2230A>T
c.6374A>T (p.Lys2125Met)
c.512+13591A>T (n.512+13591A>T)
c.3517A>T
n.6280+13591A>T
c.6245A>T (p.Lys2082Met)
c.5735A>T (p.Lys1912Met)
c.4175A>T (p.Lys1392Met)
c.4166A>T (p.Lys1389Met)
n.6266+13591A>T
2g.15218831T>CCA345884057NBASc.4360A>G
c.4426+13591A>G
c.885A>G
c.2230A>G
c.6374A>G (p.Lys2125Arg)
c.512+13591A>G (n.512+13591A>G)
c.3517A>G
n.6280+13591A>G
c.6245A>G (p.Lys2082Arg)
c.5735A>G (p.Lys1912Arg)
c.4175A>G (p.Lys1392Arg)
c.4166A>G (p.Lys1389Arg)
n.6266+13591A>G
 gnomAD v4
2g.15218831T>GCA345884061NBASc.4360A>C
c.4426+13591A>C
c.885A>C
c.2230A>C
c.6374A>C (p.Lys2125Thr)
c.512+13591A>C (n.512+13591A>C)
c.3517A>C
n.6280+13591A>C
c.6245A>C (p.Lys2082Thr)
c.5735A>C (p.Lys1912Thr)
c.4175A>C (p.Lys1392Thr)
c.4166A>C (p.Lys1389Thr)
n.6266+13591A>C
2g.15218832T>ACA345884068NBASc.4359A>T
c.4426+13590A>T
c.884A>T
c.2229A>T
c.6373A>T (p.Lys2125Ter)
c.512+13590A>T (n.512+13590A>T)
c.3516A>T
n.6280+13590A>T
c.6244A>T (p.Lys2082Ter)
c.5734A>T (p.Lys1912Ter)
c.4174A>T (p.Lys1392Ter)
c.4165A>T (p.Lys1389Ter)
n.6266+13590A>T
2g.15218832T>CCA345884077NBASc.4359A>G
c.4426+13590A>G
c.884A>G
c.2229A>G
c.6373A>G (p.Lys2125Glu)
c.512+13590A>G (n.512+13590A>G)
c.3516A>G
n.6280+13590A>G
c.6244A>G (p.Lys2082Glu)
c.5734A>G (p.Lys1912Glu)
c.4174A>G (p.Lys1392Glu)
c.4165A>G (p.Lys1389Glu)
n.6266+13590A>G
2g.15218832T>GCA345884080NBASc.4359A>C
c.4426+13590A>C
c.884A>C
c.2229A>C
c.6373A>C (p.Lys2125Gln)
c.512+13590A>C (n.512+13590A>C)
c.3516A>C
n.6280+13590A>C
c.6244A>C (p.Lys2082Gln)
c.5734A>C (p.Lys1912Gln)
c.4174A>C (p.Lys1392Gln)
c.4165A>C (p.Lys1389Gln)
n.6266+13590A>C
 dbSNP gnomAD v4
2g.15218832T=CA2490796199NBASc.4359A=
c.4426+13590A=
c.884A=
c.2229A=
c.6373A= (p.Lys2125=)
c.512+13590A= (n.512+13590A=)
c.3516A=
n.6280+13590A=
c.6244A= (p.Lys2082=)
c.5734A= (p.Lys1912=)
c.4174A= (p.Lys1392=)
c.4165A= (p.Lys1389=)
n.6266+13590A=
2g.15218833G>ACA424866931NBASc.4358C>T
c.4426+13589C>T
c.883C>T
c.2228C>T
c.6372C>T (p.Ser2124=)
c.512+13589C>T (n.512+13589C>T)
c.3515C>T
n.6280+13589C>T
c.6243C>T (p.Ser2081=)
c.5733C>T (p.Ser1911=)
c.4173C>T (p.Ser1391=)
c.4164C>T (p.Ser1388=)
n.6266+13589C>T
2g.15218833G>CCA345884088NBASc.4358C>G
c.4426+13589C>G
c.883C>G
c.2228C>G
c.6372C>G (p.Ser2124Arg)
c.512+13589C>G (n.512+13589C>G)
c.3515C>G
n.6280+13589C>G
c.6243C>G (p.Ser2081Arg)
c.5733C>G (p.Ser1911Arg)
c.4173C>G (p.Ser1391Arg)
c.4164C>G (p.Ser1388Arg)
n.6266+13589C>G
2g.15218833G>TCA345884089NBASc.4358C>A
c.4426+13589C>A
c.883C>A
c.2228C>A
c.6372C>A (p.Ser2124Arg)
c.512+13589C>A (n.512+13589C>A)
c.3515C>A
n.6280+13589C>A
c.6243C>A (p.Ser2081Arg)
c.5733C>A (p.Ser1911Arg)
c.4173C>A (p.Ser1391Arg)
c.4164C>A (p.Ser1388Arg)
n.6266+13589C>A
2g.15218834C>ACA345884114NBASc.4357G>T
c.4426+13588G>T
c.882G>T
c.2227G>T
c.6371G>T (p.Ser2124Ile)
c.512+13588G>T (n.512+13588G>T)
c.3514G>T
n.6280+13588G>T
c.6242G>T (p.Ser2081Ile)
c.5732G>T (p.Ser1911Ile)
c.4172G>T (p.Ser1391Ile)
c.4163G>T (p.Ser1388Ile)
n.6266+13588G>T
2g.15218834C>GCA345884111NBASc.4357G>C
c.4426+13588G>C
c.882G>C
c.2227G>C
c.6371G>C (p.Ser2124Thr)
c.512+13588G>C (n.512+13588G>C)
c.3514G>C
n.6280+13588G>C
c.6242G>C (p.Ser2081Thr)
c.5732G>C (p.Ser1911Thr)
c.4172G>C (p.Ser1391Thr)
c.4163G>C (p.Ser1388Thr)
n.6266+13588G>C
2g.15218834C>TCA345884094NBASc.4357G>A
c.4426+13588G>A
c.882G>A
c.2227G>A
c.6371G>A (p.Ser2124Asn)
c.512+13588G>A (n.512+13588G>A)
c.3514G>A
n.6280+13588G>A
c.6242G>A (p.Ser2081Asn)
c.5732G>A (p.Ser1911Asn)
c.4172G>A (p.Ser1391Asn)
c.4163G>A (p.Ser1388Asn)
n.6266+13588G>A
2g.15218835T>ACA345884116NBASc.4356A>T
c.4426+13587A>T
c.881A>T
c.2226A>T
c.6370A>T (p.Ser2124Cys)
c.512+13587A>T (n.512+13587A>T)
c.3513A>T
n.6280+13587A>T
c.6241A>T (p.Ser2081Cys)
c.5731A>T (p.Ser1911Cys)
c.4171A>T (p.Ser1391Cys)
c.4162A>T (p.Ser1388Cys)
n.6266+13587A>T
 gnomAD v4
2g.15218835T>CCA345884117NBASc.4356A>G
c.4426+13587A>G
c.881A>G
c.2226A>G
c.6370A>G (p.Ser2124Gly)
c.512+13587A>G (n.512+13587A>G)
c.3513A>G
n.6280+13587A>G
c.6241A>G (p.Ser2081Gly)
c.5731A>G (p.Ser1911Gly)
c.4171A>G (p.Ser1391Gly)
c.4162A>G (p.Ser1388Gly)
n.6266+13587A>G
 dbSNP gnomAD v2 gnomAD v4
2g.15218835T>GCA345884118NBASc.4356A>C
c.4426+13587A>C
c.881A>C
c.2226A>C
c.6370A>C (p.Ser2124Arg)
c.512+13587A>C (n.512+13587A>C)
c.3513A>C
n.6280+13587A>C
c.6241A>C (p.Ser2081Arg)
c.5731A>C (p.Ser1911Arg)
c.4171A>C (p.Ser1391Arg)
c.4162A>C (p.Ser1388Arg)
n.6266+13587A>C
2g.15218835T=CA2490796200NBASc.4356A=
c.4426+13587A=
c.881A=
c.2226A=
c.6370A= (p.Ser2124=)
c.512+13587A= (n.512+13587A=)
c.3513A=
n.6280+13587A=
c.6241A= (p.Ser2081=)
c.5731A= (p.Ser1911=)
c.4171A= (p.Ser1391=)
c.4162A= (p.Ser1388=)
n.6266+13587A=
2g.15218836G>ACA424866932NBASc.4355C>T
c.4426+13586C>T
c.880C>T
c.2225C>T
c.6369C>T (p.Asp2123=)
c.512+13586C>T (n.512+13586C>T)
c.3512C>T
n.6280+13586C>T
c.6240C>T (p.Asp2080=)
c.5730C>T (p.Asp1910=)
c.4170C>T (p.Asp1390=)
c.4161C>T (p.Asp1387=)
n.6266+13586C>T
2g.15218836G>CCA345884119NBASc.4355C>G
c.4426+13586C>G
c.880C>G
c.2225C>G
c.6369C>G (p.Asp2123Glu)
c.512+13586C>G (n.512+13586C>G)
c.3512C>G
n.6280+13586C>G
c.6240C>G (p.Asp2080Glu)
c.5730C>G (p.Asp1910Glu)
c.4170C>G (p.Asp1390Glu)
c.4161C>G (p.Asp1387Glu)
n.6266+13586C>G
2g.15218836G>TCA345884122NBASc.4355C>A
c.4426+13586C>A
c.880C>A
c.2225C>A
c.6369C>A (p.Asp2123Glu)
c.512+13586C>A (n.512+13586C>A)
c.3512C>A
n.6280+13586C>A
c.6240C>A (p.Asp2080Glu)
c.5730C>A (p.Asp1910Glu)
c.4170C>A (p.Asp1390Glu)
c.4161C>A (p.Asp1387Glu)
n.6266+13586C>A
2g.15218836_15218839delinsGTCCCA2490796201NBASc.4352_4355delinsGGAC
c.4426+13583_4426+13586delinsGGAC
c.877_880delinsGGAC
c.2222_2225delinsGGAC
c.6366_6369delinsGGAC (p.Glu2122=)
c.512+13583_512+13586delinsGGAC (n.512+13583_512+13586delinsGGAC)
c.3509_3512delinsGGAC
n.6280+13583_6280+13586delinsGGAC
c.6237_6240delinsGGAC (p.Glu2079=)
c.5727_5730delinsGGAC (p.Glu1909=)
c.4167_4170delinsGGAC (p.Glu1389=)
c.4158_4161delinsGGAC (p.Glu1386=)
n.6266+13583_6266+13586delinsGGAC
2g.15218837T>ACA345884128NBASc.4354A>T
c.4426+13585A>T
c.879A>T
c.2224A>T
c.6368A>T (p.Asp2123Val)
c.512+13585A>T (n.512+13585A>T)
c.3511A>T
n.6280+13585A>T
c.6239A>T (p.Asp2080Val)
c.5729A>T (p.Asp1910Val)
c.4169A>T (p.Asp1390Val)
c.4160A>T (p.Asp1387Val)
n.6266+13585A>T
2g.15218837T>CCA345884131NBASc.4354A>G
c.4426+13585A>G
c.879A>G
c.2224A>G
c.6368A>G (p.Asp2123Gly)
c.512+13585A>G (n.512+13585A>G)
c.3511A>G
n.6280+13585A>G
c.6239A>G (p.Asp2080Gly)
c.5729A>G (p.Asp1910Gly)
c.4169A>G (p.Asp1390Gly)
c.4160A>G (p.Asp1387Gly)
n.6266+13585A>G
 dbSNP gnomAD v3 gnomAD v4
2g.15218837T>GCA345884133NBASc.4354A>C
c.4426+13585A>C
c.879A>C
c.2224A>C
c.6368A>C (p.Asp2123Ala)
c.512+13585A>C (n.512+13585A>C)
c.3511A>C
n.6280+13585A>C
c.6239A>C (p.Asp2080Ala)
c.5729A>C (p.Asp1910Ala)
c.4169A>C (p.Asp1390Ala)
c.4160A>C (p.Asp1387Ala)
n.6266+13585A>C
2g.15218837T=CA2490796202NBASc.4354A=
c.4426+13585A=
c.879A=
c.2224A=
c.6368A= (p.Asp2123=)
c.512+13585A= (n.512+13585A=)
c.3511A=
n.6280+13585A=
c.6239A= (p.Asp2080=)
c.5729A= (p.Asp1910=)
c.4169A= (p.Asp1390=)
c.4160A= (p.Asp1387=)
n.6266+13585A=
2g.15218842_15218844delCA424866933NBASc.4352_4354del
c.4426+13583_4426+13585del
c.877_879del
c.2222_2224del
c.6366_6368del (p.Glu2122del)
c.512+13583_512+13585del (n.512+13583_512+13585del)
c.3509_3511del
n.6280+13583_6280+13585del
c.6237_6239del (p.Glu2079del)
c.5727_5729del (p.Glu1909del)
c.4167_4169del (p.Glu1389del)
c.4158_4160del (p.Glu1386del)
n.6266+13583_6266+13585del
 dbSNP gnomAD v2 gnomAD v4
2g.15218838C>ACA345884138NBASc.4353G>T
c.4426+13584G>T
c.878G>T
c.2223G>T
c.6367G>T (p.Asp2123Tyr)
c.512+13584G>T (n.512+13584G>T)
c.3510G>T
n.6280+13584G>T
c.6238G>T (p.Asp2080Tyr)
c.5728G>T (p.Asp1910Tyr)
c.4168G>T (p.Asp1390Tyr)
c.4159G>T (p.Asp1387Tyr)
n.6266+13584G>T
2g.15218838C>GCA345884152NBASc.4353G>C
c.4426+13584G>C
c.878G>C
c.2223G>C
c.6367G>C (p.Asp2123His)
c.512+13584G>C (n.512+13584G>C)
c.3510G>C
n.6280+13584G>C
c.6238G>C (p.Asp2080His)
c.5728G>C (p.Asp1910His)
c.4168G>C (p.Asp1390His)
c.4159G>C (p.Asp1387His)
n.6266+13584G>C
2g.15218838C>TCA345884157NBASc.4353G>A
c.4426+13584G>A
c.878G>A
c.2223G>A
c.6367G>A (p.Asp2123Asn)
c.512+13584G>A (n.512+13584G>A)
c.3510G>A
n.6280+13584G>A
c.6238G>A (p.Asp2080Asn)
c.5728G>A (p.Asp1910Asn)
c.4168G>A (p.Asp1390Asn)
c.4159G>A (p.Asp1387Asn)
n.6266+13584G>A
 gnomAD v4
2g.15218839C>ACA345884164NBASc.4352G>T
c.4426+13583G>T
c.877G>T
c.2222G>T
c.6366G>T (p.Glu2122Asp)
c.512+13583G>T (n.512+13583G>T)
c.3509G>T
n.6280+13583G>T
c.6237G>T (p.Glu2079Asp)
c.5727G>T (p.Glu1909Asp)
c.4167G>T (p.Glu1389Asp)
c.4158G>T (p.Glu1386Asp)
n.6266+13583G>T
2g.15218839C>GCA345884169NBASc.4352G>C
c.4426+13583G>C
c.877G>C
c.2222G>C
c.6366G>C (p.Glu2122Asp)
c.512+13583G>C (n.512+13583G>C)
c.3509G>C
n.6280+13583G>C
c.6237G>C (p.Glu2079Asp)
c.5727G>C (p.Glu1909Asp)
c.4167G>C (p.Glu1389Asp)
c.4158G>C (p.Glu1386Asp)
n.6266+13583G>C
2g.15218839C>TCA424866934NBASc.4352G>A
c.4426+13583G>A
c.877G>A
c.2222G>A
c.6366G>A (p.Glu2122=)
c.512+13583G>A (n.512+13583G>A)
c.3509G>A
n.6280+13583G>A
c.6237G>A (p.Glu2079=)
c.5727G>A (p.Glu1909=)
c.4167G>A (p.Glu1389=)
c.4158G>A (p.Glu1386=)
n.6266+13583G>A
 gnomAD v4
2g.15218840T>ACA345884183NBASc.4351A>T
c.4426+13582A>T
c.876A>T
c.2221A>T
c.6365A>T (p.Glu2122Val)
c.512+13582A>T (n.512+13582A>T)
c.3508A>T
n.6280+13582A>T
c.6236A>T (p.Glu2079Val)
c.5726A>T (p.Glu1909Val)
c.4166A>T (p.Glu1389Val)
c.4157A>T (p.Glu1386Val)
n.6266+13582A>T
2g.15218840T>CCA345884180NBASc.4351A>G
c.4426+13582A>G
c.876A>G
c.2221A>G
c.6365A>G (p.Glu2122Gly)
c.512+13582A>G (n.512+13582A>G)
c.3508A>G
n.6280+13582A>G
c.6236A>G (p.Glu2079Gly)
c.5726A>G (p.Glu1909Gly)
c.4166A>G (p.Glu1389Gly)
c.4157A>G (p.Glu1386Gly)
n.6266+13582A>G
2g.15218840T>GCA345884175NBASc.4351A>C
c.4426+13582A>C
c.876A>C
c.2221A>C
c.6365A>C (p.Glu2122Ala)
c.512+13582A>C (n.512+13582A>C)
c.3508A>C
n.6280+13582A>C
c.6236A>C (p.Glu2079Ala)
c.5726A>C (p.Glu1909Ala)
c.4166A>C (p.Glu1389Ala)
c.4157A>C (p.Glu1386Ala)
n.6266+13582A>C
2g.15218841C>ACA345884190NBASc.4350G>T
c.4426+13581G>T
c.875G>T
c.2220G>T
c.6364G>T (p.Glu2122Ter)
c.512+13581G>T (n.512+13581G>T)
c.3507G>T
n.6280+13581G>T
c.6235G>T (p.Glu2079Ter)
c.5725G>T (p.Glu1909Ter)
c.4165G>T (p.Glu1389Ter)
c.4156G>T (p.Glu1386Ter)
n.6266+13581G>T
2g.15218841C=CA2490796203NBASc.4350G=
c.4426+13581G=
c.875G=
c.2220G=
c.6364G= (p.Glu2122=)
c.512+13581G= (n.512+13581G=)
c.3507G=
n.6280+13581G=
c.6235G= (p.Glu2079=)
c.5725G= (p.Glu1909=)
c.4165G= (p.Glu1389=)
c.4156G= (p.Glu1386=)
n.6266+13581G=
2g.15218841C>GCA345884191NBASc.4350G>C
c.4426+13581G>C
c.875G>C
c.2220G>C
c.6364G>C (p.Glu2122Gln)
c.512+13581G>C (n.512+13581G>C)
c.3507G>C
n.6280+13581G>C
c.6235G>C (p.Glu2079Gln)
c.5725G>C (p.Glu1909Gln)
c.4165G>C (p.Glu1389Gln)
c.4156G>C (p.Glu1386Gln)
n.6266+13581G>C
2g.15218841C>TCA42584362NBASc.4350G>A
c.4426+13581G>A
c.875G>A
c.2220G>A
c.6364G>A (p.Glu2122Lys)
c.512+13581G>A (n.512+13581G>A)
c.3507G>A
n.6280+13581G>A
c.6235G>A (p.Glu2079Lys)
c.5725G>A (p.Glu1909Lys)
c.4165G>A (p.Glu1389Lys)
c.4156G>A (p.Glu1386Lys)
n.6266+13581G>A
 dbSNP
2g.15218842C>ACA345884203NBASc.4349G>T
c.4426+13580G>T
c.874G>T
c.2219G>T
c.6363G>T (p.Glu2121Asp)
c.512+13580G>T (n.512+13580G>T)
c.3506G>T
n.6280+13580G>T
c.6234G>T (p.Glu2078Asp)
c.5724G>T (p.Glu1908Asp)
c.4164G>T (p.Glu1388Asp)
c.4155G>T (p.Glu1385Asp)
n.6266+13580G>T
 COSMIC
2g.15218842C>GCA345884207NBASc.4349G>C
c.4426+13580G>C
c.874G>C
c.2219G>C
c.6363G>C (p.Glu2121Asp)
c.512+13580G>C (n.512+13580G>C)
c.3506G>C
n.6280+13580G>C
c.6234G>C (p.Glu2078Asp)
c.5724G>C (p.Glu1908Asp)
c.4164G>C (p.Glu1388Asp)
c.4155G>C (p.Glu1385Asp)
n.6266+13580G>C
 gnomAD v4
2g.15218842C>TCA424866935NBASc.4349G>A
c.4426+13580G>A
c.874G>A
c.2219G>A
c.6363G>A (p.Glu2121=)
c.512+13580G>A (n.512+13580G>A)
c.3506G>A
n.6280+13580G>A
c.6234G>A (p.Glu2078=)
c.5724G>A (p.Glu1908=)
c.4164G>A (p.Glu1388=)
c.4155G>A (p.Glu1385=)
n.6266+13580G>A
2g.15218843T>ACA345884215NBASc.4348A>T
c.4426+13579A>T
c.873A>T
c.2218A>T
c.6362A>T (p.Glu2121Val)
c.512+13579A>T (n.512+13579A>T)
c.3505A>T
n.6280+13579A>T
c.6233A>T (p.Glu2078Val)
c.5723A>T (p.Glu1908Val)
c.4163A>T (p.Glu1388Val)
c.4154A>T (p.Glu1385Val)
n.6266+13579A>T
 dbSNP gnomAD v2 gnomAD v4
2g.15218843T>CCA345884224NBASc.4348A>G
c.4426+13579A>G
c.873A>G
c.2218A>G
c.6362A>G (p.Glu2121Gly)
c.512+13579A>G (n.512+13579A>G)
c.3505A>G
n.6280+13579A>G
c.6233A>G (p.Glu2078Gly)
c.5723A>G (p.Glu1908Gly)
c.4163A>G (p.Glu1388Gly)
c.4154A>G (p.Glu1385Gly)
n.6266+13579A>G
2g.15218843T>GCA345884227NBASc.4348A>C
c.4426+13579A>C
c.873A>C
c.2218A>C
c.6362A>C (p.Glu2121Ala)
c.512+13579A>C (n.512+13579A>C)
c.3505A>C
n.6280+13579A>C
c.6233A>C (p.Glu2078Ala)
c.5723A>C (p.Glu1908Ala)
c.4163A>C (p.Glu1388Ala)
c.4154A>C (p.Glu1385Ala)
n.6266+13579A>C
2g.15218843T=CA2490796204NBASc.4348A=
c.4426+13579A=
c.873A=
c.2218A=
c.6362A= (p.Glu2121=)
c.512+13579A= (n.512+13579A=)
c.3505A=
n.6280+13579A=
c.6233A= (p.Glu2078=)
c.5723A= (p.Glu1908=)
c.4163A= (p.Glu1388=)
c.4154A= (p.Glu1385=)
n.6266+13579A=
2g.15218847_15218850delCA2657930724NBASc.4345_4348del
c.4426+13576_4426+13579del
c.870_873del
c.2215_2218del
c.6359_6362del (p.Thr2120ArgfsTer25)
c.512+13576_512+13579del (n.512+13576_512+13579del)
c.3502_3505del
n.6280+13576_6280+13579del
c.6230_6233del (p.Thr2077ArgfsTer25)
c.5720_5723del (p.Thr1907ArgfsTer25)
c.4160_4163del (p.Thr1387ArgfsTer25)
c.4151_4154del (p.Thr1384ArgfsTer25)
n.6266+13576_6266+13579del
 gnomAD v4
2g.15218844C>ACA345884231NBASc.4347G>T
c.4426+13578G>T
c.872G>T
c.2217G>T
c.6361G>T (p.Glu2121Ter)
c.512+13578G>T (n.512+13578G>T)
c.3504G>T
n.6280+13578G>T
c.6232G>T (p.Glu2078Ter)
c.5722G>T (p.Glu1908Ter)
c.4162G>T (p.Glu1388Ter)
c.4153G>T (p.Glu1385Ter)
n.6266+13578G>T
2g.15218844C>GCA345884235NBASc.4347G>C
c.4426+13578G>C
c.872G>C
c.2217G>C
c.6361G>C (p.Glu2121Gln)
c.512+13578G>C (n.512+13578G>C)
c.3504G>C
n.6280+13578G>C
c.6232G>C (p.Glu2078Gln)
c.5722G>C (p.Glu1908Gln)
c.4162G>C (p.Glu1388Gln)
c.4153G>C (p.Glu1385Gln)
n.6266+13578G>C
 COSMIC
2g.15218844C>TCA345884247NBASc.4347G>A
c.4426+13578G>A
c.872G>A
c.2217G>A
c.6361G>A (p.Glu2121Lys)
c.512+13578G>A (n.512+13578G>A)
c.3504G>A
n.6280+13578G>A
c.6232G>A (p.Glu2078Lys)
c.5722G>A (p.Glu1908Lys)
c.4162G>A (p.Glu1388Lys)
c.4153G>A (p.Glu1385Lys)
n.6266+13578G>A
2g.15218845A=CA2490796205NBASc.4346T=
c.4426+13577T=
c.871T=
c.2216T=
c.6360T= (p.Thr2120=)
c.512+13577T= (n.512+13577T=)
c.3503T=
n.6280+13577T=
c.6231T= (p.Thr2077=)
c.5721T= (p.Thr1907=)
c.4161T= (p.Thr1387=)
c.4152T= (p.Thr1384=)
n.6266+13577T=
2g.15218845A>CCA424866936NBASc.4346T>G
c.4426+13577T>G
c.871T>G
c.2216T>G
c.6360T>G (p.Thr2120=)
c.512+13577T>G (n.512+13577T>G)
c.3503T>G
n.6280+13577T>G
c.6231T>G (p.Thr2077=)
c.5721T>G (p.Thr1907=)
c.4161T>G (p.Thr1387=)
c.4152T>G (p.Thr1384=)
n.6266+13577T>G
2g.15218845A>GCA424866937NBASc.4346T>C
c.4426+13577T>C
c.871T>C
c.2216T>C
c.6360T>C (p.Thr2120=)
c.512+13577T>C (n.512+13577T>C)
c.3503T>C
n.6280+13577T>C
c.6231T>C (p.Thr2077=)
c.5721T>C (p.Thr1907=)
c.4161T>C (p.Thr1387=)
c.4152T>C (p.Thr1384=)
n.6266+13577T>C
2g.15218845A>TCA424866938NBASc.4346T>A
c.4426+13577T>A
c.871T>A
c.2216T>A
c.6360T>A (p.Thr2120=)
c.512+13577T>A (n.512+13577T>A)
c.3503T>A
n.6280+13577T>A
c.6231T>A (p.Thr2077=)
c.5721T>A (p.Thr1907=)
c.4161T>A (p.Thr1387=)
c.4152T>A (p.Thr1384=)
n.6266+13577T>A
 dbSNP gnomAD v3 gnomAD v4
2g.15218846G>ACA345884259NBASc.4345C>T
c.4426+13576C>T
c.870C>T
c.2215C>T
c.6359C>T (p.Thr2120Ile)
c.512+13576C>T (n.512+13576C>T)
c.3502C>T
n.6280+13576C>T
c.6230C>T (p.Thr2077Ile)
c.5720C>T (p.Thr1907Ile)
c.4160C>T (p.Thr1387Ile)
c.4151C>T (p.Thr1384Ile)
n.6266+13576C>T
 dbSNP gnomAD v2 gnomAD v4
2g.15218846G>CCA345884267NBASc.4345C>G
c.4426+13576C>G
c.870C>G
c.2215C>G
c.6359C>G (p.Thr2120Ser)
c.512+13576C>G (n.512+13576C>G)
c.3502C>G
n.6280+13576C>G
c.6230C>G (p.Thr2077Ser)
c.5720C>G (p.Thr1907Ser)
c.4160C>G (p.Thr1387Ser)
c.4151C>G (p.Thr1384Ser)
n.6266+13576C>G
2g.15218846G=CA2490796206NBASc.4345C=
c.4426+13576C=
c.870C=
c.2215C=
c.6359C= (p.Thr2120=)
c.512+13576C= (n.512+13576C=)
c.3502C=
n.6280+13576C=
c.6230C= (p.Thr2077=)
c.5720C= (p.Thr1907=)
c.4160C= (p.Thr1387=)
c.4151C= (p.Thr1384=)
n.6266+13576C=
2g.15218846G>TCA345884271NBASc.4345C>A
c.4426+13576C>A
c.870C>A
c.2215C>A
c.6359C>A (p.Thr2120Asn)
c.512+13576C>A (n.512+13576C>A)
c.3502C>A
n.6280+13576C>A
c.6230C>A (p.Thr2077Asn)
c.5720C>A (p.Thr1907Asn)
c.4160C>A (p.Thr1387Asn)
c.4151C>A (p.Thr1384Asn)
n.6266+13576C>A
2g.15218847T>ACA345884285NBASc.4344A>T
c.4426+13575A>T
c.869A>T
c.2214A>T
c.6358A>T (p.Thr2120Ser)
c.512+13575A>T (n.512+13575A>T)
c.3501A>T
n.6280+13575A>T
c.6229A>T (p.Thr2077Ser)
c.5719A>T (p.Thr1907Ser)
c.4159A>T (p.Thr1387Ser)
c.4150A>T (p.Thr1384Ser)
n.6266+13575A>T
2g.15218847T>CCA345884281NBASc.4344A>G
c.4426+13575A>G
c.869A>G
c.2214A>G
c.6358A>G (p.Thr2120Ala)
c.512+13575A>G (n.512+13575A>G)
c.3501A>G
n.6280+13575A>G
c.6229A>G (p.Thr2077Ala)
c.5719A>G (p.Thr1907Ala)
c.4159A>G (p.Thr1387Ala)
c.4150A>G (p.Thr1384Ala)
n.6266+13575A>G
2g.15218847T>GCA345884275NBASc.4344A>C
c.4426+13575A>C
c.869A>C
c.2214A>C
c.6358A>C (p.Thr2120Pro)
c.512+13575A>C (n.512+13575A>C)
c.3501A>C
n.6280+13575A>C
c.6229A>C (p.Thr2077Pro)
c.5719A>C (p.Thr1907Pro)
c.4159A>C (p.Thr1387Pro)
c.4150A>C (p.Thr1384Pro)
n.6266+13575A>C
2g.15218848C>ACA424866939NBASc.4343G>T
c.4426+13574G>T
c.868G>T
c.2213G>T
c.6357G>T (p.Leu2119=)
c.512+13574G>T (n.512+13574G>T)
c.3500G>T
n.6280+13574G>T
c.6228G>T (p.Leu2076=)
c.5718G>T (p.Leu1906=)
c.4158G>T (p.Leu1386=)
c.4149G>T (p.Leu1383=)
n.6266+13574G>T
2g.15218848C=CA2490796207NBASc.4343G=
c.4426+13574G=
c.868G=
c.2213G=
c.6357G= (p.Leu2119=)
c.512+13574G= (n.512+13574G=)
c.3500G=
n.6280+13574G=
c.6228G= (p.Leu2076=)
c.5718G= (p.Leu1906=)
c.4158G= (p.Leu1386=)
c.4149G= (p.Leu1383=)
n.6266+13574G=
2g.15218848C>GCA424866940NBASc.4343G>C
c.4426+13574G>C
c.868G>C
c.2213G>C
c.6357G>C (p.Leu2119=)
c.512+13574G>C (n.512+13574G>C)
c.3500G>C
n.6280+13574G>C
c.6228G>C (p.Leu2076=)
c.5718G>C (p.Leu1906=)
c.4158G>C (p.Leu1386=)
c.4149G>C (p.Leu1383=)
n.6266+13574G>C
 gnomAD v4
2g.15218848C>TCA424866941NBASc.4343G>A
c.4426+13574G>A
c.868G>A
c.2213G>A
c.6357G>A (p.Leu2119=)
c.512+13574G>A (n.512+13574G>A)
c.3500G>A
n.6280+13574G>A
c.6228G>A (p.Leu2076=)
c.5718G>A (p.Leu1906=)
c.4158G>A (p.Leu1386=)
c.4149G>A (p.Leu1383=)
n.6266+13574G>A
 dbSNP
2g.15218849A=CA2490796208NBASc.4342T=
c.4426+13573T=
c.867T=
c.2212T=
c.6356T= (p.Leu2119=)
c.512+13573T= (n.512+13573T=)
c.3499T=
n.6280+13573T=
c.6227T= (p.Leu2076=)
c.5717T= (p.Leu1906=)
c.4157T= (p.Leu1386=)
c.4148T= (p.Leu1383=)
n.6266+13573T=
2g.15218849A>CCA345884290NBASc.4342T>G
c.4426+13573T>G
c.867T>G
c.2212T>G
c.6356T>G (p.Leu2119Arg)
c.512+13573T>G (n.512+13573T>G)
c.3499T>G
n.6280+13573T>G
c.6227T>G (p.Leu2076Arg)
c.5717T>G (p.Leu1906Arg)
c.4157T>G (p.Leu1386Arg)
c.4148T>G (p.Leu1383Arg)
n.6266+13573T>G
 ClinVar dbSNP gnomAD v4
2g.15218849A>GCA345884305NBASc.4342T>C
c.4426+13573T>C
c.867T>C
c.2212T>C
c.6356T>C (p.Leu2119Pro)
c.512+13573T>C (n.512+13573T>C)
c.3499T>C
n.6280+13573T>C
c.6227T>C (p.Leu2076Pro)
c.5717T>C (p.Leu1906Pro)
c.4157T>C (p.Leu1386Pro)
c.4148T>C (p.Leu1383Pro)
n.6266+13573T>C
2g.15218849A>TCA345884297NBASc.4342T>A
c.4426+13573T>A
c.867T>A
c.2212T>A
c.6356T>A (p.Leu2119Gln)
c.512+13573T>A (n.512+13573T>A)
c.3499T>A
n.6280+13573T>A
c.6227T>A (p.Leu2076Gln)
c.5717T>A (p.Leu1906Gln)
c.4157T>A (p.Leu1386Gln)
c.4148T>A (p.Leu1383Gln)
n.6266+13573T>A
2g.15218850G>ACA1535027NBASc.4341C>T
c.4426+13572C>T
c.866C>T
c.2211C>T
c.6355C>T (p.Leu2119=)
c.512+13572C>T (n.512+13572C>T)
c.3498C>T
n.6280+13572C>T
c.6226C>T (p.Leu2076=)
c.5716C>T (p.Leu1906=)
c.4156C>T (p.Leu1386=)
c.4147C>T (p.Leu1383=)
n.6266+13572C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.15218850G>CCA1535028NBASc.4341C>G
c.4426+13572C>G
c.866C>G
c.2211C>G
c.6355C>G (p.Leu2119Val)
c.512+13572C>G (n.512+13572C>G)
c.3498C>G
n.6280+13572C>G
c.6226C>G (p.Leu2076Val)
c.5716C>G (p.Leu1906Val)
c.4156C>G (p.Leu1386Val)
c.4147C>G (p.Leu1383Val)
n.6266+13572C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.15218850G=CA2490796209NBASc.4341C=
c.4426+13572C=
c.866C=
c.2211C=
c.6355C= (p.Leu2119=)
c.512+13572C= (n.512+13572C=)
c.3498C=
n.6280+13572C=
c.6226C= (p.Leu2076=)
c.5716C= (p.Leu1906=)
c.4156C= (p.Leu1386=)
c.4147C= (p.Leu1383=)
n.6266+13572C=
2g.15218850G>TCA345884310NBASc.4341C>A
c.4426+13572C>A
c.866C>A
c.2211C>A
c.6355C>A (p.Leu2119Met)
c.512+13572C>A (n.512+13572C>A)
c.3498C>A
n.6280+13572C>A
c.6226C>A (p.Leu2076Met)
c.5716C>A (p.Leu1906Met)
c.4156C>A (p.Leu1386Met)
c.4147C>A (p.Leu1383Met)
n.6266+13572C>A
2g.15218851G>ACA1535029NBASc.4340C>T
c.4426+13571C>T
c.865C>T
c.2210C>T
c.6354C>T (p.His2118=)
c.512+13571C>T (n.512+13571C>T)
c.3497C>T
n.6280+13571C>T
c.6225C>T (p.His2075=)
c.5715C>T (p.His1905=)
c.4155C>T (p.His1385=)
c.4146C>T (p.His1382=)
n.6266+13571C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.15218851G>CCA345884329NBASc.4340C>G
c.4426+13571C>G
c.865C>G
c.2210C>G
c.6354C>G (p.His2118Gln)
c.512+13571C>G (n.512+13571C>G)
c.3497C>G
n.6280+13571C>G
c.6225C>G (p.His2075Gln)
c.5715C>G (p.His1905Gln)
c.4155C>G (p.His1385Gln)
c.4146C>G (p.His1382Gln)
n.6266+13571C>G
2g.15218851G=CA2490796210NBASc.4340C=
c.4426+13571C=
c.865C=
c.2210C=
c.6354C= (p.His2118=)
c.512+13571C= (n.512+13571C=)
c.3497C=
n.6280+13571C=
c.6225C= (p.His2075=)
c.5715C= (p.His1905=)
c.4155C= (p.His1385=)
c.4146C= (p.His1382=)
n.6266+13571C=
2g.15218851G>TCA345884332NBASc.4340C>A
c.4426+13571C>A
c.865C>A
c.2210C>A
c.6354C>A (p.His2118Gln)
c.512+13571C>A (n.512+13571C>A)
c.3497C>A
n.6280+13571C>A
c.6225C>A (p.His2075Gln)
c.5715C>A (p.His1905Gln)
c.4155C>A (p.His1385Gln)
c.4146C>A (p.His1382Gln)
n.6266+13571C>A
2g.15218852T>ACA345884335NBASc.4339A>T
c.4426+13570A>T
c.864A>T
c.2209A>T
c.6353A>T (p.His2118Leu)
c.512+13570A>T (n.512+13570A>T)
c.3496A>T
n.6280+13570A>T
c.6224A>T (p.His2075Leu)
c.5714A>T (p.His1905Leu)
c.4154A>T (p.His1385Leu)
c.4145A>T (p.His1382Leu)
n.6266+13570A>T
2g.15218852T>CCA345884350NBASc.4339A>G
c.4426+13570A>G
c.864A>G
c.2209A>G
c.6353A>G (p.His2118Arg)
c.512+13570A>G (n.512+13570A>G)
c.3496A>G
n.6280+13570A>G
c.6224A>G (p.His2075Arg)
c.5714A>G (p.His1905Arg)
c.4154A>G (p.His1385Arg)
c.4145A>G (p.His1382Arg)
n.6266+13570A>G
2g.15218852T>GCA345884354NBASc.4339A>C
c.4426+13570A>C
c.864A>C
c.2209A>C
c.6353A>C (p.His2118Pro)
c.512+13570A>C (n.512+13570A>C)
c.3496A>C
n.6280+13570A>C
c.6224A>C (p.His2075Pro)
c.5714A>C (p.His1905Pro)
c.4154A>C (p.His1385Pro)
c.4145A>C (p.His1382Pro)
n.6266+13570A>C
2g.15218853G>ACA345884357NBASc.4338C>T
c.4426+13569C>T
c.863C>T
c.2208C>T
c.6352C>T (p.His2118Tyr)
c.512+13569C>T (n.512+13569C>T)
c.3495C>T
n.6280+13569C>T
c.6223C>T (p.His2075Tyr)
c.5713C>T (p.His1905Tyr)
c.4153C>T (p.His1385Tyr)
c.4144C>T (p.His1382Tyr)
n.6266+13569C>T
 ClinVar
2g.15218853G>CCA345884359NBASc.4338C>G
c.4426+13569C>G
c.863C>G
c.2208C>G
c.6352C>G (p.His2118Asp)
c.512+13569C>G (n.512+13569C>G)
c.3495C>G
n.6280+13569C>G
c.6223C>G (p.His2075Asp)
c.5713C>G (p.His1905Asp)
c.4153C>G (p.His1385Asp)
c.4144C>G (p.His1382Asp)
n.6266+13569C>G
2g.15218853G>TCA345884361NBASc.4338C>A
c.4426+13569C>A
c.863C>A
c.2208C>A
c.6352C>A (p.His2118Asn)
c.512+13569C>A (n.512+13569C>A)
c.3495C>A
n.6280+13569C>A
c.6223C>A (p.His2075Asn)
c.5713C>A (p.His1905Asn)
c.4153C>A (p.His1385Asn)
c.4144C>A (p.His1382Asn)
n.6266+13569C>A
2g.15218854A>CCA345884363NBASc.4337T>G
c.4426+13568T>G
c.862T>G
c.2207T>G
c.6351T>G (p.Phe2117Leu)
c.512+13568T>G (n.512+13568T>G)
c.3494T>G
n.6280+13568T>G
c.6222T>G (p.Phe2074Leu)
c.5712T>G (p.Phe1904Leu)
c.4152T>G (p.Phe1384Leu)
c.4143T>G (p.Phe1381Leu)
n.6266+13568T>G
2g.15218854A>GCA424866942NBASc.4337T>C
c.4426+13568T>C
c.862T>C
c.2207T>C
c.6351T>C (p.Phe2117=)
c.512+13568T>C (n.512+13568T>C)
c.3494T>C
n.6280+13568T>C
c.6222T>C (p.Phe2074=)
c.5712T>C (p.Phe1904=)
c.4152T>C (p.Phe1384=)
c.4143T>C (p.Phe1381=)
n.6266+13568T>C
2g.15218854A>TCA345884367NBASc.4337T>A
c.4426+13568T>A
c.862T>A
c.2207T>A
c.6351T>A (p.Phe2117Leu)
c.512+13568T>A (n.512+13568T>A)
c.3494T>A
n.6280+13568T>A
c.6222T>A (p.Phe2074Leu)
c.5712T>A (p.Phe1904Leu)
c.4152T>A (p.Phe1384Leu)
c.4143T>A (p.Phe1381Leu)
n.6266+13568T>A
2g.15218855A=CA2490796211NBASc.4336T=
c.4426+13567T=
c.861T=
c.2206T=
c.6350T= (p.Phe2117=)
c.512+13567T= (n.512+13567T=)
c.3493T=
n.6280+13567T=
c.6221T= (p.Phe2074=)
c.5711T= (p.Phe1904=)
c.4151T= (p.Phe1384=)
c.4142T= (p.Phe1381=)
n.6266+13567T=
2g.15218855A>CCA345884377NBASc.4336T>G
c.4426+13567T>G
c.861T>G
c.2206T>G
c.6350T>G (p.Phe2117Cys)
c.512+13567T>G (n.512+13567T>G)
c.3493T>G
n.6280+13567T>G
c.6221T>G (p.Phe2074Cys)
c.5711T>G (p.Phe1904Cys)
c.4151T>G (p.Phe1384Cys)
c.4142T>G (p.Phe1381Cys)
n.6266+13567T>G
2g.15218855A>GCA345884380NBASc.4336T>C
c.4426+13567T>C
c.861T>C
c.2206T>C
c.6350T>C (p.Phe2117Ser)
c.512+13567T>C (n.512+13567T>C)
c.3493T>C
n.6280+13567T>C
c.6221T>C (p.Phe2074Ser)
c.5711T>C (p.Phe1904Ser)
c.4151T>C (p.Phe1384Ser)
c.4142T>C (p.Phe1381Ser)
n.6266+13567T>C
 dbSNP
2g.15218855A>TCA345884387NBASc.4336T>A
c.4426+13567T>A
c.861T>A
c.2206T>A
c.6350T>A (p.Phe2117Tyr)
c.512+13567T>A (n.512+13567T>A)
c.3493T>A
n.6280+13567T>A
c.6221T>A (p.Phe2074Tyr)
c.5711T>A (p.Phe1904Tyr)
c.4151T>A (p.Phe1384Tyr)
c.4142T>A (p.Phe1381Tyr)
n.6266+13567T>A
2g.15218856A>CCA345884390NBASc.4335T>G
c.4426+13566T>G
c.860T>G
c.2205T>G
c.6349T>G (p.Phe2117Val)
c.512+13566T>G (n.512+13566T>G)
c.3492T>G
n.6280+13566T>G
c.6220T>G (p.Phe2074Val)
c.5710T>G (p.Phe1904Val)
c.4150T>G (p.Phe1384Val)
c.4141T>G (p.Phe1381Val)
n.6266+13566T>G
2g.15218856A>GCA345884393NBASc.4335T>C
c.4426+13566T>C
c.860T>C
c.2205T>C
c.6349T>C (p.Phe2117Leu)
c.512+13566T>C (n.512+13566T>C)
c.3492T>C
n.6280+13566T>C
c.6220T>C (p.Phe2074Leu)
c.5710T>C (p.Phe1904Leu)
c.4150T>C (p.Phe1384Leu)
c.4141T>C (p.Phe1381Leu)
n.6266+13566T>C
2g.15218856A>TCA345884395NBASc.4335T>A
c.4426+13566T>A
c.860T>A
c.2205T>A
c.6349T>A (p.Phe2117Ile)
c.512+13566T>A (n.512+13566T>A)
c.3492T>A
n.6280+13566T>A
c.6220T>A (p.Phe2074Ile)
c.5710T>A (p.Phe1904Ile)
c.4150T>A (p.Phe1384Ile)
c.4141T>A (p.Phe1381Ile)
n.6266+13566T>A
2g.15218857T>ACA424866943NBASc.4334A>T
c.4426+13565A>T
c.859A>T
c.2204A>T
c.6348A>T (p.Ser2116=)
c.512+13565A>T (n.512+13565A>T)
c.3491A>T
n.6280+13565A>T
c.6219A>T (p.Ser2073=)
c.5709A>T (p.Ser1903=)
c.4149A>T (p.Ser1383=)
c.4140A>T (p.Ser1380=)
n.6266+13565A>T
2g.15218857T>CCA424866944NBASc.4334A>G
c.4426+13565A>G
c.859A>G
c.2204A>G
c.6348A>G (p.Ser2116=)
c.512+13565A>G (n.512+13565A>G)
c.3491A>G
n.6280+13565A>G
c.6219A>G (p.Ser2073=)
c.5709A>G (p.Ser1903=)
c.4149A>G (p.Ser1383=)
c.4140A>G (p.Ser1380=)
n.6266+13565A>G
 dbSNP gnomAD v2 gnomAD v4
2g.15218857T>GCA424866945NBASc.4334A>C
c.4426+13565A>C
c.859A>C
c.2204A>C
c.6348A>C (p.Ser2116=)
c.512+13565A>C (n.512+13565A>C)
c.3491A>C
n.6280+13565A>C
c.6219A>C (p.Ser2073=)
c.5709A>C (p.Ser1903=)
c.4149A>C (p.Ser1383=)
c.4140A>C (p.Ser1380=)
n.6266+13565A>C
2g.15218857T=CA2490796212NBASc.4334A=
c.4426+13565A=
c.859A=
c.2204A=
c.6348A= (p.Ser2116=)
c.512+13565A= (n.512+13565A=)
c.3491A=
n.6280+13565A=
c.6219A= (p.Ser2073=)
c.5709A= (p.Ser1903=)
c.4149A= (p.Ser1383=)
c.4140A= (p.Ser1380=)
n.6266+13565A=
2g.15218858G>ACA345884402NBASc.4333C>T
c.4426+13564C>T
c.858C>T
c.2203C>T
c.6347C>T (p.Ser2116Leu)
c.512+13564C>T (n.512+13564C>T)
c.3490C>T
n.6280+13564C>T
c.6218C>T (p.Ser2073Leu)
c.5708C>T (p.Ser1903Leu)
c.4148C>T (p.Ser1383Leu)
c.4139C>T (p.Ser1380Leu)
n.6266+13564C>T
 dbSNP gnomAD v2
2g.15218858G>CCA345884404NBASc.4333C>G
c.4426+13564C>G
c.858C>G
c.2203C>G
c.6347C>G (p.Ser2116Ter)
c.512+13564C>G (n.512+13564C>G)
c.3490C>G
n.6280+13564C>G
c.6218C>G (p.Ser2073Ter)
c.5708C>G (p.Ser1903Ter)
c.4148C>G (p.Ser1383Ter)
c.4139C>G (p.Ser1380Ter)
n.6266+13564C>G
 dbSNP gnomAD v3 gnomAD v4
2g.15218858G=CA2490796213NBASc.4333C=
c.4426+13564C=
c.858C=
c.2203C=
c.6347C= (p.Ser2116=)
c.512+13564C= (n.512+13564C=)
c.3490C=
n.6280+13564C=
c.6218C= (p.Ser2073=)
c.5708C= (p.Ser1903=)
c.4148C= (p.Ser1383=)
c.4139C= (p.Ser1380=)
n.6266+13564C=
2g.15218858G>TCA345884406NBASc.4333C>A
c.4426+13564C>A
c.858C>A
c.2203C>A
c.6347C>A (p.Ser2116Ter)
c.512+13564C>A (n.512+13564C>A)
c.3490C>A
n.6280+13564C>A
c.6218C>A (p.Ser2073Ter)
c.5708C>A (p.Ser1903Ter)
c.4148C>A (p.Ser1383Ter)
c.4139C>A (p.Ser1380Ter)
n.6266+13564C>A
2g.15218859A>CCA345884408NBASc.4332T>G
c.4426+13563T>G
c.857T>G
c.2202T>G
c.6346T>G (p.Ser2116Ala)
c.512+13563T>G (n.512+13563T>G)
c.3489T>G
n.6280+13563T>G
c.6217T>G (p.Ser2073Ala)
c.5707T>G (p.Ser1903Ala)
c.4147T>G (p.Ser1383Ala)
c.4138T>G (p.Ser1380Ala)
n.6266+13563T>G
2g.15218859A>GCA345884410NBASc.4332T>C
c.4426+13563T>C
c.857T>C
c.2202T>C
c.6346T>C (p.Ser2116Pro)
c.512+13563T>C (n.512+13563T>C)
c.3489T>C
n.6280+13563T>C
c.6217T>C (p.Ser2073Pro)
c.5707T>C (p.Ser1903Pro)
c.4147T>C (p.Ser1383Pro)
c.4138T>C (p.Ser1380Pro)
n.6266+13563T>C
2g.15218859A>TCA345884413NBASc.4332T>A
c.4426+13563T>A
c.857T>A
c.2202T>A
c.6346T>A (p.Ser2116Thr)
c.512+13563T>A (n.512+13563T>A)
c.3489T>A
n.6280+13563T>A
c.6217T>A (p.Ser2073Thr)
c.5707T>A (p.Ser1903Thr)
c.4147T>A (p.Ser1383Thr)
c.4138T>A (p.Ser1380Thr)
n.6266+13563T>A
2g.15218860T>ACA345884422NBASc.4331A>T
c.4426+13562A>T
c.856A>T
c.2201A>T
c.6345A>T (p.Gln2115His)
c.512+13562A>T (n.512+13562A>T)
c.3488A>T
n.6280+13562A>T
c.6216A>T (p.Gln2072His)
c.5706A>T (p.Gln1902His)
c.4146A>T (p.Gln1382His)
c.4137A>T (p.Gln1379His)
n.6266+13562A>T
2g.15218860T>CCA1535030NBASc.4331A>G
c.4426+13562A>G
c.856A>G
c.2201A>G
c.6345A>G (p.Gln2115=)
c.512+13562A>G (n.512+13562A>G)
c.3488A>G
n.6280+13562A>G
c.6216A>G (p.Gln2072=)
c.5706A>G (p.Gln1902=)
c.4146A>G (p.Gln1382=)
c.4137A>G (p.Gln1379=)
n.6266+13562A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.15218860T>GCA345884425NBASc.4331A>C
c.4426+13562A>C
c.856A>C
c.2201A>C
c.6345A>C (p.Gln2115His)
c.512+13562A>C (n.512+13562A>C)
c.3488A>C
n.6280+13562A>C
c.6216A>C (p.Gln2072His)
c.5706A>C (p.Gln1902His)
c.4146A>C (p.Gln1382His)
c.4137A>C (p.Gln1379His)
n.6266+13562A>C
2g.15218860T=CA2490796214NBASc.4331A=
c.4426+13562A=
c.856A=
c.2201A=
c.6345A= (p.Gln2115=)
c.512+13562A= (n.512+13562A=)
c.3488A=
n.6280+13562A=
c.6216A= (p.Gln2072=)
c.5706A= (p.Gln1902=)
c.4146A= (p.Gln1382=)
c.4137A= (p.Gln1379=)
n.6266+13562A=
2g.15218861T>ACA345884435NBASc.4330A>T
c.4426+13561A>T
c.855A>T
c.2200A>T
c.6344A>T (p.Gln2115Leu)
c.512+13561A>T (n.512+13561A>T)
c.3487A>T
n.6280+13561A>T
c.6215A>T (p.Gln2072Leu)
c.5705A>T (p.Gln1902Leu)
c.4145A>T (p.Gln1382Leu)
c.4136A>T (p.Gln1379Leu)
n.6266+13561A>T
2g.15218861T>CCA42584389NBASc.4330A>G
c.4426+13561A>G
c.855A>G
c.2200A>G
c.6344A>G (p.Gln2115Arg)
c.512+13561A>G (n.512+13561A>G)
c.3487A>G
n.6280+13561A>G
c.6215A>G (p.Gln2072Arg)
c.5705A>G (p.Gln1902Arg)
c.4145A>G (p.Gln1382Arg)
c.4136A>G (p.Gln1379Arg)
n.6266+13561A>G
 dbSNP gnomAD v4
2g.15218861T>GCA345884440NBASc.4330A>C
c.4426+13561A>C
c.855A>C
c.2200A>C
c.6344A>C (p.Gln2115Pro)
c.512+13561A>C (n.512+13561A>C)
c.3487A>C
n.6280+13561A>C
c.6215A>C (p.Gln2072Pro)
c.5705A>C (p.Gln1902Pro)
c.4145A>C (p.Gln1382Pro)
c.4136A>C (p.Gln1379Pro)
n.6266+13561A>C
2g.15218861T=CA2490796215NBASc.4330A=
c.4426+13561A=
c.855A=
c.2200A=
c.6344A= (p.Gln2115=)
c.512+13561A= (n.512+13561A=)
c.3487A=
n.6280+13561A=
c.6215A= (p.Gln2072=)
c.5705A= (p.Gln1902=)
c.4145A= (p.Gln1382=)
c.4136A= (p.Gln1379=)
n.6266+13561A=
2g.15218862G>ACA345884441NBASc.4329C>T
c.4426+13560C>T
c.854C>T
c.2199C>T
c.6343C>T (p.Gln2115Ter)
c.512+13560C>T (n.512+13560C>T)
c.3486C>T
n.6280+13560C>T
c.6214C>T (p.Gln2072Ter)
c.5704C>T (p.Gln1902Ter)
c.4144C>T (p.Gln1382Ter)
c.4135C>T (p.Gln1379Ter)
n.6266+13560C>T
2g.15218862G>CCA345884442NBASc.4329C>G
c.4426+13560C>G
c.854C>G
c.2199C>G
c.6343C>G (p.Gln2115Glu)
c.512+13560C>G (n.512+13560C>G)
c.3486C>G
n.6280+13560C>G
c.6214C>G (p.Gln2072Glu)
c.5704C>G (p.Gln1902Glu)
c.4144C>G (p.Gln1382Glu)
c.4135C>G (p.Gln1379Glu)
n.6266+13560C>G
2g.15218862G>TCA345884443NBASc.4329C>A
c.4426+13560C>A
c.854C>A
c.2199C>A
c.6343C>A (p.Gln2115Lys)
c.512+13560C>A (n.512+13560C>A)
c.3486C>A
n.6280+13560C>A
c.6214C>A (p.Gln2072Lys)
c.5704C>A (p.Gln1902Lys)
c.4144C>A (p.Gln1382Lys)
c.4135C>A (p.Gln1379Lys)
n.6266+13560C>A
 COSMIC
2g.15218863C>ACA1535031NBASc.4328G>T
c.4426+13559G>T
c.853G>T
c.2198G>T
c.6342G>T (p.Gly2114=)
c.512+13559G>T (n.512+13559G>T)
c.3485G>T
n.6280+13559G>T
c.6213G>T (p.Gly2071=)
c.5703G>T (p.Gly1901=)
c.4143G>T (p.Gly1381=)
c.4134G>T (p.Gly1378=)
n.6266+13559G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.15218863C=CA2490796216NBASc.4328G=
c.4426+13559G=
c.853G=
c.2198G=
c.6342G= (p.Gly2114=)
c.512+13559G= (n.512+13559G=)
c.3485G=
n.6280+13559G=
c.6213G= (p.Gly2071=)
c.5703G= (p.Gly1901=)
c.4143G= (p.Gly1381=)
c.4134G= (p.Gly1378=)
n.6266+13559G=
2g.15218863C>GCA424866946NBASc.4328G>C
c.4426+13559G>C
c.853G>C
c.2198G>C
c.6342G>C (p.Gly2114=)
c.512+13559G>C (n.512+13559G>C)
c.3485G>C
n.6280+13559G>C
c.6213G>C (p.Gly2071=)
c.5703G>C (p.Gly1901=)
c.4143G>C (p.Gly1381=)
c.4134G>C (p.Gly1378=)
n.6266+13559G>C
2g.15218863C>TCA424866947NBASc.4328G>A
c.4426+13559G>A
c.853G>A
c.2198G>A
c.6342G>A (p.Gly2114=)
c.512+13559G>A (n.512+13559G>A)
c.3485G>A
n.6280+13559G>A
c.6213G>A (p.Gly2071=)
c.5703G>A (p.Gly1901=)
c.4143G>A (p.Gly1381=)
c.4134G>A (p.Gly1378=)
n.6266+13559G>A
 gnomAD v4
2g.15218864C>ACA345884452NBASc.4327G>T
c.4426+13558G>T
c.852G>T
c.2197G>T
c.6341G>T (p.Gly2114Val)
c.512+13558G>T (n.512+13558G>T)
c.3484G>T
n.6280+13558G>T
c.6212G>T (p.Gly2071Val)
c.5702G>T (p.Gly1901Val)
c.4142G>T (p.Gly1381Val)
c.4133G>T (p.Gly1378Val)
n.6266+13558G>T
2g.15218864C>GCA345884455NBASc.4327G>C
c.4426+13558G>C
c.852G>C
c.2197G>C
c.6341G>C (p.Gly2114Ala)
c.512+13558G>C (n.512+13558G>C)
c.3484G>C
n.6280+13558G>C
c.6212G>C (p.Gly2071Ala)
c.5702G>C (p.Gly1901Ala)
c.4142G>C (p.Gly1381Ala)
c.4133G>C (p.Gly1378Ala)
n.6266+13558G>C
2g.15218864C>TCA345884486NBASc.4327G>A
c.4426+13558G>A
c.852G>A
c.2197G>A
c.6341G>A (p.Gly2114Glu)
c.512+13558G>A (n.512+13558G>A)
c.3484G>A
n.6280+13558G>A
c.6212G>A (p.Gly2071Glu)
c.5702G>A (p.Gly1901Glu)
c.4142G>A (p.Gly1381Glu)
c.4133G>A (p.Gly1378Glu)
n.6266+13558G>A
 gnomAD v4
2g.15218865C>ACA345884491NBASc.4326G>T
c.4426+13557G>T
c.851G>T
c.2196G>T
c.6340G>T (p.Gly2114Trp)
c.512+13557G>T (n.512+13557G>T)
c.3483G>T
n.6280+13557G>T
c.6211G>T (p.Gly2071Trp)
c.5701G>T (p.Gly1901Trp)
c.4141G>T (p.Gly1381Trp)
c.4132G>T (p.Gly1378Trp)
n.6266+13557G>T
2g.15218865C=CA2490796217NBASc.4326G=
c.4426+13557G=
c.851G=
c.2196G=
c.6340G= (p.Gly2114=)
c.512+13557G= (n.512+13557G=)
c.3483G=
n.6280+13557G=
c.6211G= (p.Gly2071=)
c.5701G= (p.Gly1901=)
c.4141G= (p.Gly1381=)
c.4132G= (p.Gly1378=)
n.6266+13557G=
2g.15218865C>GCA345884498NBASc.4326G>C
c.4426+13557G>C
c.851G>C
c.2196G>C
c.6340G>C (p.Gly2114Arg)
c.512+13557G>C (n.512+13557G>C)
c.3483G>C
n.6280+13557G>C
c.6211G>C (p.Gly2071Arg)
c.5701G>C (p.Gly1901Arg)
c.4141G>C (p.Gly1381Arg)
c.4132G>C (p.Gly1378Arg)
n.6266+13557G>C
 ClinVar dbSNP gnomAD v2
2g.15218865C>TCA345884507NBASc.4326G>A
c.4426+13557G>A
c.851G>A
c.2196G>A
c.6340G>A (p.Gly2114Arg)
c.512+13557G>A (n.512+13557G>A)
c.3483G>A
n.6280+13557G>A
c.6211G>A (p.Gly2071Arg)
c.5701G>A (p.Gly1901Arg)
c.4141G>A (p.Gly1381Arg)
c.4132G>A (p.Gly1378Arg)
n.6266+13557G>A
 COSMIC
2g.15218866C>ACA345884517NBASc.4325G>T
c.4426+13556G>T
c.850G>T
c.2195G>T
c.6339G>T (p.Leu2113Phe)
c.512+13556G>T (n.512+13556G>T)
c.3482G>T
n.6280+13556G>T
c.6210G>T (p.Leu2070Phe)
c.5700G>T (p.Leu1900Phe)
c.4140G>T (p.Leu1380Phe)
c.4131G>T (p.Leu1377Phe)
n.6266+13556G>T
2g.15218866C=CA2490796218NBASc.4325G=
c.4426+13556G=
c.850G=
c.2195G=
c.6339G= (p.Leu2113=)
c.512+13556G= (n.512+13556G=)
c.3482G=
n.6280+13556G=
c.6210G= (p.Leu2070=)
c.5700G= (p.Leu1900=)
c.4140G= (p.Leu1380=)
c.4131G= (p.Leu1377=)
n.6266+13556G=
2g.15218866C>GCA345884520NBASc.4325G>C
c.4426+13556G>C
c.850G>C
c.2195G>C
c.6339G>C (p.Leu2113Phe)
c.512+13556G>C (n.512+13556G>C)
c.3482G>C
n.6280+13556G>C
c.6210G>C (p.Leu2070Phe)
c.5700G>C (p.Leu1900Phe)
c.4140G>C (p.Leu1380Phe)
c.4131G>C (p.Leu1377Phe)
n.6266+13556G>C
2g.15218866C>TCA1535032NBASc.4325G>A
c.4426+13556G>A
c.850G>A
c.2195G>A
c.6339G>A (p.Leu2113=)
c.512+13556G>A (n.512+13556G>A)
c.3482G>A
n.6280+13556G>A
c.6210G>A (p.Leu2070=)
c.5700G>A (p.Leu1900=)
c.4140G>A (p.Leu1380=)
c.4131G>A (p.Leu1377=)
n.6266+13556G>A
 dbSNP ExAC gnomAD v2
2g.15218867A>CCA345884525NBASc.4324T>G
c.4426+13555T>G
c.849T>G
c.2194T>G
c.6338T>G (p.Leu2113Trp)
c.512+13555T>G (n.512+13555T>G)
c.3481T>G
n.6280+13555T>G
c.6209T>G (p.Leu2070Trp)
c.5699T>G (p.Leu1900Trp)
c.4139T>G (p.Leu1380Trp)
c.4130T>G (p.Leu1377Trp)
n.6266+13555T>G
 ClinVar dbSNP gnomAD v4
2g.15218867A>GCA345884538NBASc.4324T>C
c.4426+13555T>C
c.849T>C
c.2194T>C
c.6338T>C (p.Leu2113Ser)
c.512+13555T>C (n.512+13555T>C)
c.3481T>C
n.6280+13555T>C
c.6209T>C (p.Leu2070Ser)
c.5699T>C (p.Leu1900Ser)
c.4139T>C (p.Leu1380Ser)
c.4130T>C (p.Leu1377Ser)
n.6266+13555T>C
2g.15218867A>TCA345884533NBASc.4324T>A
c.4426+13555T>A
c.849T>A
c.2194T>A
c.6338T>A (p.Leu2113Ter)
c.512+13555T>A (n.512+13555T>A)
c.3481T>A
n.6280+13555T>A
c.6209T>A (p.Leu2070Ter)
c.5699T>A (p.Leu1900Ter)
c.4139T>A (p.Leu1380Ter)
c.4130T>A (p.Leu1377Ter)
n.6266+13555T>A
2g.15218870delCA2576680241NBASc.4324del
c.4426+13555del
c.849del
c.2194del
c.6338del (p.Leu2113TrpfsTer7)
c.512+13555del (n.512+13555del)
c.3481del
n.6280+13555del
c.6209del (p.Leu2070TrpfsTer7)
c.5699del (p.Leu1900TrpfsTer7)
c.4139del (p.Leu1380TrpfsTer7)
c.4130del (p.Leu1377TrpfsTer7)
n.6266+13555del
2g.15218868A=CA2490796219NBASc.4323T=
c.4426+13554T=
c.848T=
c.2193T=
c.6337T= (p.Leu2113=)
c.512+13554T= (n.512+13554T=)
c.3480T=
n.6280+13554T=
c.6208T= (p.Leu2070=)
c.5698T= (p.Leu1900=)
c.4138T= (p.Leu1380=)
c.4129T= (p.Leu1377=)
n.6266+13554T=
2g.15218868A>CCA345884542NBASc.4323T>G
c.4426+13554T>G
c.848T>G
c.2193T>G
c.6337T>G (p.Leu2113Val)
c.512+13554T>G (n.512+13554T>G)
c.3480T>G
n.6280+13554T>G
c.6208T>G (p.Leu2070Val)
c.5698T>G (p.Leu1900Val)
c.4138T>G (p.Leu1380Val)
c.4129T>G (p.Leu1377Val)
n.6266+13554T>G
2g.15218868A>GCA1535033NBASc.4323T>C
c.4426+13554T>C
c.848T>C
c.2193T>C
c.6337T>C (p.Leu2113=)
c.512+13554T>C (n.512+13554T>C)
c.3480T>C
n.6280+13554T>C
c.6208T>C (p.Leu2070=)
c.5698T>C (p.Leu1900=)
c.4138T>C (p.Leu1380=)
c.4129T>C (p.Leu1377=)
n.6266+13554T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.15218868A>TCA345884545NBASc.4323T>A
c.4426+13554T>A
c.848T>A
c.2193T>A
c.6337T>A (p.Leu2113Met)
c.512+13554T>A (n.512+13554T>A)
c.3480T>A
n.6280+13554T>A
c.6208T>A (p.Leu2070Met)
c.5698T>A (p.Leu1900Met)
c.4138T>A (p.Leu1380Met)
c.4129T>A (p.Leu1377Met)
n.6266+13554T>A
2g.15218869A>CCA345884550NBASc.4322T>G
c.4426+13553T>G
c.847T>G
c.2192T>G
c.6336T>G (p.Ile2112Met)
c.512+13553T>G (n.512+13553T>G)
c.3479T>G
n.6280+13553T>G
c.6207T>G (p.Ile2069Met)
c.5697T>G (p.Ile1899Met)
c.4137T>G (p.Ile1379Met)
c.4128T>G (p.Ile1376Met)
n.6266+13553T>G
2g.15218869A>GCA424866948NBASc.4322T>C
c.4426+13553T>C
c.847T>C
c.2192T>C
c.6336T>C (p.Ile2112=)
c.512+13553T>C (n.512+13553T>C)
c.3479T>C
n.6280+13553T>C
c.6207T>C (p.Ile2069=)
c.5697T>C (p.Ile1899=)
c.4137T>C (p.Ile1379=)
c.4128T>C (p.Ile1376=)
n.6266+13553T>C
2g.15218869A>TCA424866949NBASc.4322T>A
c.4426+13553T>A
c.847T>A
c.2192T>A
c.6336T>A (p.Ile2112=)
c.512+13553T>A (n.512+13553T>A)
c.3479T>A
n.6280+13553T>A
c.6207T>A (p.Ile2069=)
c.5697T>A (p.Ile1899=)
c.4137T>A (p.Ile1379=)
c.4128T>A (p.Ile1376=)
n.6266+13553T>A
2g.15218870A>CCA345884551NBASc.4321T>G
c.4426+13552T>G
c.846T>G
c.2191T>G
c.6335T>G (p.Ile2112Ser)
c.512+13552T>G (n.512+13552T>G)
c.3478T>G
n.6280+13552T>G
c.6206T>G (p.Ile2069Ser)
c.5696T>G (p.Ile1899Ser)
c.4136T>G (p.Ile1379Ser)
c.4127T>G (p.Ile1376Ser)
n.6266+13552T>G
2g.15218870A>GCA345884555NBASc.4321T>C
c.4426+13552T>C
c.846T>C
c.2191T>C
c.6335T>C (p.Ile2112Thr)
c.512+13552T>C (n.512+13552T>C)
c.3478T>C
n.6280+13552T>C
c.6206T>C (p.Ile2069Thr)
c.5696T>C (p.Ile1899Thr)
c.4136T>C (p.Ile1379Thr)
c.4127T>C (p.Ile1376Thr)
n.6266+13552T>C
2g.15218870A>TCA345884557NBASc.4321T>A
c.4426+13552T>A
c.846T>A
c.2191T>A
c.6335T>A (p.Ile2112Asn)
c.512+13552T>A (n.512+13552T>A)
c.3478T>A
n.6280+13552T>A
c.6206T>A (p.Ile2069Asn)
c.5696T>A (p.Ile1899Asn)
c.4136T>A (p.Ile1379Asn)
c.4127T>A (p.Ile1376Asn)
n.6266+13552T>A
2g.15218871T>ACA345884561NBASc.4320A>T
c.4426+13551A>T
c.845A>T
c.2190A>T
c.6334A>T (p.Ile2112Phe)
c.512+13551A>T (n.512+13551A>T)
c.3477A>T
n.6280+13551A>T
c.6205A>T (p.Ile2069Phe)
c.5695A>T (p.Ile1899Phe)
c.4135A>T (p.Ile1379Phe)
c.4126A>T (p.Ile1376Phe)
n.6266+13551A>T
2g.15218871T>CCA345884562NBASc.4320A>G
c.4426+13551A>G
c.845A>G
c.2190A>G
c.6334A>G (p.Ile2112Val)
c.512+13551A>G (n.512+13551A>G)
c.3477A>G
n.6280+13551A>G
c.6205A>G (p.Ile2069Val)
c.5695A>G (p.Ile1899Val)
c.4135A>G (p.Ile1379Val)
c.4126A>G (p.Ile1376Val)
n.6266+13551A>G
2g.15218871T>GCA345884563NBASc.4320A>C
c.4426+13551A>C
c.845A>C
c.2190A>C
c.6334A>C (p.Ile2112Leu)
c.512+13551A>C (n.512+13551A>C)
c.3477A>C
n.6280+13551A>C
c.6205A>C (p.Ile2069Leu)
c.5695A>C (p.Ile1899Leu)
c.4135A>C (p.Ile1379Leu)
c.4126A>C (p.Ile1376Leu)
n.6266+13551A>C
2g.15218872C>ACA345884564NBASc.4319G>T
c.4426+13550G>T
c.844G>T
c.2189G>T
c.6333G>T (p.Gln2111His)
c.512+13550G>T (n.512+13550G>T)
c.3476G>T
n.6280+13550G>T
c.6204G>T (p.Gln2068His)
c.5694G>T (p.Gln1898His)
c.4134G>T (p.Gln1378His)
c.4125G>T (p.Gln1375His)
n.6266+13550G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.15218872C=CA2490796220NBASc.4319G=
c.4426+13550G=
c.844G=
c.2189G=
c.6333G= (p.Gln2111=)
c.512+13550G= (n.512+13550G=)
c.3476G=
n.6280+13550G=
c.6204G= (p.Gln2068=)
c.5694G= (p.Gln1898=)
c.4134G= (p.Gln1378=)
c.4125G= (p.Gln1375=)
n.6266+13550G=
2g.15218872C>GCA345884565NBASc.4319G>C
c.4426+13550G>C
c.844G>C
c.2189G>C
c.6333G>C (p.Gln2111His)
c.512+13550G>C (n.512+13550G>C)
c.3476G>C
n.6280+13550G>C
c.6204G>C (p.Gln2068His)
c.5694G>C (p.Gln1898His)
c.4134G>C (p.Gln1378His)
c.4125G>C (p.Gln1375His)
n.6266+13550G>C
 gnomAD v4
2g.15218872C>TCA424866950NBASc.4319G>A
c.4426+13550G>A
c.844G>A
c.2189G>A
c.6333G>A (p.Gln2111=)
c.512+13550G>A (n.512+13550G>A)
c.3476G>A
n.6280+13550G>A
c.6204G>A (p.Gln2068=)
c.5694G>A (p.Gln1898=)
c.4134G>A (p.Gln1378=)
c.4125G>A (p.Gln1375=)
n.6266+13550G>A
2g.15218873T>ACA345884566NBASc.4318A>T
c.4426+13549A>T
c.843A>T
c.2188A>T
c.6332A>T (p.Gln2111Leu)
c.512+13549A>T (n.512+13549A>T)
c.3475A>T
n.6280+13549A>T
c.6203A>T (p.Gln2068Leu)
c.5693A>T (p.Gln1898Leu)
c.4133A>T (p.Gln1378Leu)
c.4124A>T (p.Gln1375Leu)
n.6266+13549A>T
2g.15218873T>CCA345884567NBASc.4318A>G
c.4426+13549A>G
c.843A>G
c.2188A>G
c.6332A>G (p.Gln2111Arg)
c.512+13549A>G (n.512+13549A>G)
c.3475A>G
n.6280+13549A>G
c.6203A>G (p.Gln2068Arg)
c.5693A>G (p.Gln1898Arg)
c.4133A>G (p.Gln1378Arg)
c.4124A>G (p.Gln1375Arg)
n.6266+13549A>G
 dbSNP
2g.15218873T>GCA345884574NBASc.4318A>C
c.4426+13549A>C
c.843A>C
c.2188A>C
c.6332A>C (p.Gln2111Pro)
c.512+13549A>C (n.512+13549A>C)
c.3475A>C
n.6280+13549A>C
c.6203A>C (p.Gln2068Pro)
c.5693A>C (p.Gln1898Pro)
c.4133A>C (p.Gln1378Pro)
c.4124A>C (p.Gln1375Pro)
n.6266+13549A>C
2g.15218873T=CA2490796221NBASc.4318A=
c.4426+13549A=
c.843A=
c.2188A=
c.6332A= (p.Gln2111=)
c.512+13549A= (n.512+13549A=)
c.3475A=
n.6280+13549A=
c.6203A= (p.Gln2068=)
c.5693A= (p.Gln1898=)
c.4133A= (p.Gln1378=)
c.4124A= (p.Gln1375=)
n.6266+13549A=
2g.15218874G>ACA345884581NBASc.4317C>T
c.4426+13548C>T
c.842C>T
c.2187C>T
c.6331C>T (p.Gln2111Ter)
c.512+13548C>T (n.512+13548C>T)
c.3474C>T
n.6280+13548C>T
c.6202C>T (p.Gln2068Ter)
c.5692C>T (p.Gln1898Ter)
c.4132C>T (p.Gln1378Ter)
c.4123C>T (p.Gln1375Ter)
n.6266+13548C>T
 COSMIC
2g.15218874G>CCA345884584NBASc.4317C>G
c.4426+13548C>G
c.842C>G
c.2187C>G
c.6331C>G (p.Gln2111Glu)
c.512+13548C>G (n.512+13548C>G)
c.3474C>G
n.6280+13548C>G
c.6202C>G (p.Gln2068Glu)
c.5692C>G (p.Gln1898Glu)
c.4132C>G (p.Gln1378Glu)
c.4123C>G (p.Gln1375Glu)
n.6266+13548C>G
2g.15218874G=CA2490796222NBASc.4317C=
c.4426+13548C=
c.842C=
c.2187C=
c.6331C= (p.Gln2111=)
c.512+13548C= (n.512+13548C=)
c.3474C=
n.6280+13548C=
c.6202C= (p.Gln2068=)
c.5692C= (p.Gln1898=)
c.4132C= (p.Gln1378=)
c.4123C= (p.Gln1375=)
n.6266+13548C=
2g.15218874G>TCA1535034NBASc.4317C>A
c.4426+13548C>A
c.842C>A
c.2187C>A
c.6331C>A (p.Gln2111Lys)
c.512+13548C>A (n.512+13548C>A)
c.3474C>A
n.6280+13548C>A
c.6202C>A (p.Gln2068Lys)
c.5692C>A (p.Gln1898Lys)
c.4132C>A (p.Gln1378Lys)
c.4123C>A (p.Gln1375Lys)
n.6266+13548C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.15218875C>ACA424866953NBASc.4316G>T
c.4426+13547G>T
c.841G>T
c.2186G>T
c.6330G>T (p.Leu2110=)
c.512+13547G>T (n.512+13547G>T)
c.3473G>T
n.6280+13547G>T
c.6201G>T (p.Leu2067=)
c.5691G>T (p.Leu1897=)
c.4131G>T (p.Leu1377=)
c.4122G>T (p.Leu1374=)
n.6266+13547G>T
2g.15218875C>GCA424866952NBASc.4316G>C
c.4426+13547G>C
c.841G>C
c.2186G>C
c.6330G>C (p.Leu2110=)
c.512+13547G>C (n.512+13547G>C)
c.3473G>C
n.6280+13547G>C
c.6201G>C (p.Leu2067=)
c.5691G>C (p.Leu1897=)
c.4131G>C (p.Leu1377=)
c.4122G>C (p.Leu1374=)
n.6266+13547G>C
2g.15218875C>TCA424866951NBASc.4316G>A
c.4426+13547G>A
c.841G>A
c.2186G>A
c.6330G>A (p.Leu2110=)
c.512+13547G>A (n.512+13547G>A)
c.3473G>A
n.6280+13547G>A
c.6201G>A (p.Leu2067=)
c.5691G>A (p.Leu1897=)
c.4131G>A (p.Leu1377=)
c.4122G>A (p.Leu1374=)
n.6266+13547G>A
2g.15218876A>CCA345884601NBASc.4315T>G
c.4426+13546T>G
c.840T>G
c.2185T>G
c.6329T>G (p.Leu2110Arg)
c.512+13546T>G (n.512+13546T>G)
c.3472T>G
n.6280+13546T>G
c.6200T>G (p.Leu2067Arg)
c.5690T>G (p.Leu1897Arg)
c.4130T>G (p.Leu1377Arg)
c.4121T>G (p.Leu1374Arg)
n.6266+13546T>G
2g.15218876A>GCA345884604NBASc.4315T>C
c.4426+13546T>C
c.840T>C
c.2185T>C
c.6329T>C (p.Leu2110Pro)
c.512+13546T>C (n.512+13546T>C)
c.3472T>C
n.6280+13546T>C
c.6200T>C (p.Leu2067Pro)
c.5690T>C (p.Leu1897Pro)
c.4130T>C (p.Leu1377Pro)
c.4121T>C (p.Leu1374Pro)
n.6266+13546T>C
2g.15218876A>TCA345884609NBASc.4315T>A
c.4426+13546T>A
c.840T>A
c.2185T>A
c.6329T>A (p.Leu2110Gln)
c.512+13546T>A (n.512+13546T>A)
c.3472T>A
n.6280+13546T>A
c.6200T>A (p.Leu2067Gln)
c.5690T>A (p.Leu1897Gln)
c.4130T>A (p.Leu1377Gln)
c.4121T>A (p.Leu1374Gln)
n.6266+13546T>A
2g.15218877G>ACA424866954NBASc.4314C>T
c.4426+13545C>T
c.839C>T
c.2184C>T
c.6328C>T (p.Leu2110=)
c.512+13545C>T (n.512+13545C>T)
c.3471C>T
n.6280+13545C>T
c.6199C>T (p.Leu2067=)
c.5689C>T (p.Leu1897=)
c.4129C>T (p.Leu1377=)
c.4120C>T (p.Leu1374=)
n.6266+13545C>T
 gnomAD v4
2g.15218877G>CCA345884613NBASc.4314C>G
c.4426+13545C>G
c.839C>G
c.2184C>G
c.6328C>G (p.Leu2110Val)
c.512+13545C>G (n.512+13545C>G)
c.3471C>G
n.6280+13545C>G
c.6199C>G (p.Leu2067Val)
c.5689C>G (p.Leu1897Val)
c.4129C>G (p.Leu1377Val)
c.4120C>G (p.Leu1374Val)
n.6266+13545C>G
2g.15218877G>TCA345884624NBASc.4314C>A
c.4426+13545C>A
c.839C>A
c.2184C>A
c.6328C>A (p.Leu2110Met)
c.512+13545C>A (n.512+13545C>A)
c.3471C>A
n.6280+13545C>A
c.6199C>A (p.Leu2067Met)
c.5689C>A (p.Leu1897Met)
c.4129C>A (p.Leu1377Met)
c.4120C>A (p.Leu1374Met)
n.6266+13545C>A
2g.15218878C>ACA424866955NBASc.4313G>T
c.4426+13544G>T
c.838G>T
c.2183G>T
c.6327G>T (p.Val2109=)
c.512+13544G>T (n.512+13544G>T)
c.3470G>T
n.6280+13544G>T
c.6198G>T (p.Val2066=)
c.5688G>T (p.Val1896=)
c.4128G>T (p.Val1376=)
c.4119G>T (p.Val1373=)
n.6266+13544G>T
2g.15218878C=CA2490796223NBASc.4313G=
c.4426+13544G=
c.838G=
c.2183G=
c.6327G= (p.Val2109=)
c.512+13544G= (n.512+13544G=)
c.3470G=
n.6280+13544G=
c.6198G= (p.Val2066=)
c.5688G= (p.Val1896=)
c.4128G= (p.Val1376=)
c.4119G= (p.Val1373=)
n.6266+13544G=
2g.15218878C>GCA424866956NBASc.4313G>C
c.4426+13544G>C
c.838G>C
c.2183G>C
c.6327G>C (p.Val2109=)
c.512+13544G>C (n.512+13544G>C)
c.3470G>C
n.6280+13544G>C
c.6198G>C (p.Val2066=)
c.5688G>C (p.Val1896=)
c.4128G>C (p.Val1376=)
c.4119G>C (p.Val1373=)
n.6266+13544G>C
2g.15218878C>TCA1535035NBASc.4313G>A
c.4426+13544G>A
c.838G>A
c.2183G>A
c.6327G>A (p.Val2109=)
c.512+13544G>A (n.512+13544G>A)
c.3470G>A
n.6280+13544G>A
c.6198G>A (p.Val2066=)
c.5688G>A (p.Val1896=)
c.4128G>A (p.Val1376=)
c.4119G>A (p.Val1373=)
n.6266+13544G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.15218879A>CCA345884653NBASc.4312T>G
c.4426+13543T>G
c.837T>G
c.2182T>G
c.6326T>G (p.Val2109Gly)
c.512+13543T>G (n.512+13543T>G)
c.3469T>G
n.6280+13543T>G
c.6197T>G (p.Val2066Gly)
c.5687T>G (p.Val1896Gly)
c.4127T>G (p.Val1376Gly)
c.4118T>G (p.Val1373Gly)
n.6266+13543T>G
2g.15218879A>GCA345884649NBASc.4312T>C
c.4426+13543T>C
c.837T>C
c.2182T>C
c.6326T>C (p.Val2109Ala)
c.512+13543T>C (n.512+13543T>C)
c.3469T>C
n.6280+13543T>C
c.6197T>C (p.Val2066Ala)
c.5687T>C (p.Val1896Ala)
c.4127T>C (p.Val1376Ala)
c.4118T>C (p.Val1373Ala)
n.6266+13543T>C
2g.15218879A>TCA345884645NBASc.4312T>A
c.4426+13543T>A
c.837T>A
c.2182T>A
c.6326T>A (p.Val2109Glu)
c.512+13543T>A (n.512+13543T>A)
c.3469T>A
n.6280+13543T>A
c.6197T>A (p.Val2066Glu)
c.5687T>A (p.Val1896Glu)
c.4127T>A (p.Val1376Glu)
c.4118T>A (p.Val1373Glu)
n.6266+13543T>A
2g.15218880C>ACA345884655NBASc.4311G>T
c.4426+13542G>T
c.836G>T
c.2181G>T
c.6325G>T (p.Val2109Leu)
c.512+13542G>T (n.512+13542G>T)
c.3468G>T
n.6280+13542G>T
c.6196G>T (p.Val2066Leu)
c.5686G>T (p.Val1896Leu)
c.4126G>T (p.Val1376Leu)
c.4117G>T (p.Val1373Leu)
n.6266+13542G>T
2g.15218880C=CA2490796224NBASc.4311G=
c.4426+13542G=
c.836G=
c.2181G=
c.6325G= (p.Val2109=)
c.512+13542G= (n.512+13542G=)
c.3468G=
n.6280+13542G=
c.6196G= (p.Val2066=)
c.5686G= (p.Val1896=)
c.4126G= (p.Val1376=)
c.4117G= (p.Val1373=)
n.6266+13542G=
2g.15218880C>GCA345884658NBASc.4311G>C
c.4426+13542G>C
c.836G>C
c.2181G>C
c.6325G>C (p.Val2109Leu)
c.512+13542G>C (n.512+13542G>C)
c.3468G>C
n.6280+13542G>C
c.6196G>C (p.Val2066Leu)
c.5686G>C (p.Val1896Leu)
c.4126G>C (p.Val1376Leu)
c.4117G>C (p.Val1373Leu)
n.6266+13542G>C
 gnomAD v4
2g.15218880C>TCA1535036NBASc.4311G>A
c.4426+13542G>A
c.836G>A
c.2181G>A
c.6325G>A (p.Val2109Met)
c.512+13542G>A (n.512+13542G>A)
c.3468G>A
n.6280+13542G>A
c.6196G>A (p.Val2066Met)
c.5686G>A (p.Val1896Met)
c.4126G>A (p.Val1376Met)
c.4117G>A (p.Val1373Met)
n.6266+13542G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.15218881G>ACA42584433NBASc.4310C>T
c.4426+13541C>T
c.835C>T
c.2180C>T
c.6324C>T (p.His2108=)
c.512+13541C>T (n.512+13541C>T)
c.3467C>T
n.6280+13541C>T
c.6195C>T (p.His2065=)
c.5685C>T (p.His1895=)
c.4125C>T (p.His1375=)
c.4116C>T (p.His1372=)
n.6266+13541C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.15218881G>CCA345884667NBASc.4310C>G
c.4426+13541C>G
c.835C>G
c.2180C>G
c.6324C>G (p.His2108Gln)
c.512+13541C>G (n.512+13541C>G)
c.3467C>G
n.6280+13541C>G
c.6195C>G (p.His2065Gln)
c.5685C>G (p.His1895Gln)
c.4125C>G (p.His1375Gln)
c.4116C>G (p.His1372Gln)
n.6266+13541C>G
2g.15218881G=CA2490796225NBASc.4310C=
c.4426+13541C=
c.835C=
c.2180C=
c.6324C= (p.His2108=)
c.512+13541C= (n.512+13541C=)
c.3467C=
n.6280+13541C=
c.6195C= (p.His2065=)
c.5685C= (p.His1895=)
c.4125C= (p.His1375=)
c.4116C= (p.His1372=)
n.6266+13541C=
2g.15218881G>TCA1535037NBASc.4310C>A
c.4426+13541C>A
c.835C>A
c.2180C>A
c.6324C>A (p.His2108Gln)
c.512+13541C>A (n.512+13541C>A)
c.3467C>A
n.6280+13541C>A
c.6195C>A (p.His2065Gln)
c.5685C>A (p.His1895Gln)
c.4125C>A (p.His1375Gln)
c.4116C>A (p.His1372Gln)
n.6266+13541C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.15218882T>ACA345884670NBASc.4309A>T
c.4426+13540A>T
c.834A>T
c.2179A>T
c.6323A>T (p.His2108Leu)
c.512+13540A>T (n.512+13540A>T)
c.3466A>T
n.6280+13540A>T
c.6194A>T (p.His2065Leu)
c.5684A>T (p.His1895Leu)
c.4124A>T (p.His1375Leu)
c.4115A>T (p.His1372Leu)
n.6266+13540A>T
2g.15218882T>CCA345884672NBASc.4309A>G
c.4426+13540A>G
c.834A>G
c.2179A>G
c.6323A>G (p.His2108Arg)
c.512+13540A>G (n.512+13540A>G)
c.3466A>G
n.6280+13540A>G
c.6194A>G (p.His2065Arg)
c.5684A>G (p.His1895Arg)
c.4124A>G (p.His1375Arg)
c.4115A>G (p.His1372Arg)
n.6266+13540A>G
2g.15218882T>GCA345884676NBASc.4309A>C
c.4426+13540A>C
c.834A>C
c.2179A>C
c.6323A>C (p.His2108Pro)
c.512+13540A>C (n.512+13540A>C)
c.3466A>C
n.6280+13540A>C
c.6194A>C (p.His2065Pro)
c.5684A>C (p.His1895Pro)
c.4124A>C (p.His1375Pro)
c.4115A>C (p.His1372Pro)
n.6266+13540A>C
2g.15218883G>ACA345884678NBASc.4308C>T
c.4426+13539C>T
c.833C>T
c.2178C>T
c.6322C>T (p.His2108Tyr)
c.512+13539C>T (n.512+13539C>T)
c.3465C>T
n.6280+13539C>T
c.6193C>T (p.His2065Tyr)
c.5683C>T (p.His1895Tyr)
c.4123C>T (p.His1375Tyr)
c.4114C>T (p.His1372Tyr)
n.6266+13539C>T
2g.15218883G>CCA345884681NBASc.4308C>G
c.4426+13539C>G
c.833C>G
c.2178C>G
c.6322C>G (p.His2108Asp)
c.512+13539C>G (n.512+13539C>G)
c.3465C>G
n.6280+13539C>G
c.6193C>G (p.His2065Asp)
c.5683C>G (p.His1895Asp)
c.4123C>G (p.His1375Asp)
c.4114C>G (p.His1372Asp)
n.6266+13539C>G
2g.15218883G>TCA345884683NBASc.4308C>A
c.4426+13539C>A
c.833C>A
c.2178C>A
c.6322C>A (p.His2108Asn)
c.512+13539C>A (n.512+13539C>A)
c.3465C>A
n.6280+13539C>A
c.6193C>A (p.His2065Asn)
c.5683C>A (p.His1895Asn)
c.4123C>A (p.His1375Asn)
c.4114C>A (p.His1372Asn)
n.6266+13539C>A
2g.15218884A>CCA345884685NBASc.4307T>G
c.4426+13538T>G
c.832T>G
c.2177T>G
c.6321T>G (p.Ile2107Met)
c.512+13538T>G (n.512+13538T>G)
c.3464T>G
n.6280+13538T>G
c.6192T>G (p.Ile2064Met)
c.5682T>G (p.Ile1894Met)
c.4122T>G (p.Ile1374Met)
c.4113T>G (p.Ile1371Met)
n.6266+13538T>G
 ClinVar
2g.15218884A>GCA424866957NBASc.4307T>C
c.4426+13538T>C
c.832T>C
c.2177T>C
c.6321T>C (p.Ile2107=)
c.512+13538T>C (n.512+13538T>C)
c.3464T>C
n.6280+13538T>C
c.6192T>C (p.Ile2064=)
c.5682T>C (p.Ile1894=)
c.4122T>C (p.Ile1374=)
c.4113T>C (p.Ile1371=)
n.6266+13538T>C
2g.15218884A>TCA424866958NBASc.4307T>A
c.4426+13538T>A
c.832T>A
c.2177T>A
c.6321T>A (p.Ile2107=)
c.512+13538T>A (n.512+13538T>A)
c.3464T>A
n.6280+13538T>A
c.6192T>A (p.Ile2064=)
c.5682T>A (p.Ile1894=)
c.4122T>A (p.Ile1374=)
c.4113T>A (p.Ile1371=)
n.6266+13538T>A
2g.15218885A>CCA345884690NBASc.4306T>G
c.4426+13537T>G
c.831T>G
c.2176T>G
c.6320T>G (p.Ile2107Ser)
c.512+13537T>G (n.512+13537T>G)
c.3463T>G
n.6280+13537T>G
c.6191T>G (p.Ile2064Ser)
c.5681T>G (p.Ile1894Ser)
c.4121T>G (p.Ile1374Ser)
c.4112T>G (p.Ile1371Ser)
n.6266+13537T>G
2g.15218885A>GCA345884688NBASc.4306T>C
c.4426+13537T>C
c.831T>C
c.2176T>C
c.6320T>C (p.Ile2107Thr)
c.512+13537T>C (n.512+13537T>C)
c.3463T>C
n.6280+13537T>C
c.6191T>C (p.Ile2064Thr)
c.5681T>C (p.Ile1894Thr)
c.4121T>C (p.Ile1374Thr)
c.4112T>C (p.Ile1371Thr)
n.6266+13537T>C
2g.15218885A>TCA345884687NBASc.4306T>A
c.4426+13537T>A
c.831T>A
c.2176T>A
c.6320T>A (p.Ile2107Asn)
c.512+13537T>A (n.512+13537T>A)
c.3463T>A
n.6280+13537T>A
c.6191T>A (p.Ile2064Asn)
c.5681T>A (p.Ile1894Asn)
c.4121T>A (p.Ile1374Asn)
c.4112T>A (p.Ile1371Asn)
n.6266+13537T>A
2g.15218886T>ACA345884694NBASc.4305A>T
c.4426+13536A>T
c.830A>T
c.2175A>T
c.6319A>T (p.Ile2107Phe)
c.512+13536A>T (n.512+13536A>T)
c.3462A>T
n.6280+13536A>T
c.6190A>T (p.Ile2064Phe)
c.5680A>T (p.Ile1894Phe)
c.4120A>T (p.Ile1374Phe)
c.4111A>T (p.Ile1371Phe)
n.6266+13536A>T
2g.15218886T>CCA345884697NBASc.4305A>G
c.4426+13536A>G
c.830A>G
c.2175A>G
c.6319A>G (p.Ile2107Val)
c.512+13536A>G (n.512+13536A>G)
c.3462A>G
n.6280+13536A>G
c.6190A>G (p.Ile2064Val)
c.5680A>G (p.Ile1894Val)
c.4120A>G (p.Ile1374Val)
c.4111A>G (p.Ile1371Val)
n.6266+13536A>G
 dbSNP
2g.15218886T>GCA345884696NBASc.4305A>C
c.4426+13536A>C
c.830A>C
c.2175A>C
c.6319A>C (p.Ile2107Leu)
c.512+13536A>C (n.512+13536A>C)
c.3462A>C
n.6280+13536A>C
c.6190A>C (p.Ile2064Leu)
c.5680A>C (p.Ile1894Leu)
c.4120A>C (p.Ile1374Leu)
c.4111A>C (p.Ile1371Leu)
n.6266+13536A>C
2g.15218886T=CA2490796226NBASc.4305A=
c.4426+13536A=
c.830A=
c.2175A=
c.6319A= (p.Ile2107=)
c.512+13536A= (n.512+13536A=)
c.3462A=
n.6280+13536A=
c.6190A= (p.Ile2064=)
c.5680A= (p.Ile1894=)
c.4120A= (p.Ile1374=)
c.4111A= (p.Ile1371=)
n.6266+13536A=
2g.15218886_15218898dupCA2657930725NBASc.4293_4305dup
c.4426+13524_4426+13536dup
c.818_830dup
c.2163_2175dup
c.6307_6319dup (p.Ile2107SerfsTer19)
c.512+13524_512+13536dup (n.512+13524_512+13536dup)
c.3450_3462dup
n.6280+13524_6280+13536dup
c.6178_6190dup (p.Ile2064SerfsTer19)
c.5668_5680dup (p.Ile1894SerfsTer19)
c.4108_4120dup (p.Ile1374SerfsTer19)
c.4099_4111dup (p.Ile1371SerfsTer19)
n.6266+13524_6266+13536dup
 gnomAD v4
2g.15218887G>ACA424866959NBASc.4304C>T
c.4426+13535C>T
c.829C>T
c.2174C>T
c.6318C>T (p.Arg2106=)
c.512+13535C>T (n.512+13535C>T)
c.3461C>T
n.6280+13535C>T
c.6189C>T (p.Arg2063=)
c.5679C>T (p.Arg1893=)
c.4119C>T (p.Arg1373=)
c.4110C>T (p.Arg1370=)
n.6266+13535C>T
2g.15218887G>CCA424866960NBASc.4304C>G
c.4426+13535C>G
c.829C>G
c.2174C>G
c.6318C>G (p.Arg2106=)
c.512+13535C>G (n.512+13535C>G)
c.3461C>G
n.6280+13535C>G
c.6189C>G (p.Arg2063=)
c.5679C>G (p.Arg1893=)
c.4119C>G (p.Arg1373=)
c.4110C>G (p.Arg1370=)
n.6266+13535C>G
2g.15218887G>TCA424866961NBASc.4304C>A
c.4426+13535C>A
c.829C>A
c.2174C>A
c.6318C>A (p.Arg2106=)
c.512+13535C>A (n.512+13535C>A)
c.3461C>A
n.6280+13535C>A
c.6189C>A (p.Arg2063=)
c.5679C>A (p.Arg1893=)
c.4119C>A (p.Arg1373=)
c.4110C>A (p.Arg1370=)
n.6266+13535C>A
 ClinVar gnomAD v4
2g.15218887_15218901delCA2657930726NBASc.4290_4304del
c.4426+13521_4426+13535del
c.815_829del
c.2160_2174del
c.6304_6318del (p.Pro2102_Arg2106del)
c.512+13521_512+13535del (n.512+13521_512+13535del)
c.3447_3461del
n.6280+13521_6280+13535del
c.6175_6189del (p.Pro2059_Arg2063del)
c.5665_5679del (p.Pro1889_Arg1893del)
c.4105_4119del (p.Pro1369_Arg1373del)
c.4096_4110del (p.Pro1366_Arg1370del)
n.6266+13521_6266+13535del
 gnomAD v4
2g.15218888C>ACA1535038NBASc.4303G>T
c.4426+13534G>T
c.828G>T
c.2173G>T
c.6317G>T (p.Arg2106Leu)
c.512+13534G>T (n.512+13534G>T)
c.3460G>T
n.6280+13534G>T
c.6188G>T (p.Arg2063Leu)
c.5678G>T (p.Arg1893Leu)
c.4118G>T (p.Arg1373Leu)
c.4109G>T (p.Arg1370Leu)
n.6266+13534G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.15218888C=CA2490796227NBASc.4303G=
c.4426+13534G=
c.828G=
c.2173G=
c.6317G= (p.Arg2106=)
c.512+13534G= (n.512+13534G=)
c.3460G=
n.6280+13534G=
c.6188G= (p.Arg2063=)
c.5678G= (p.Arg1893=)
c.4118G= (p.Arg1373=)
c.4109G= (p.Arg1370=)
n.6266+13534G=
2g.15218888C>GCA345884708NBASc.4303G>C
c.4426+13534G>C
c.828G>C
c.2173G>C
c.6317G>C (p.Arg2106Pro)
c.512+13534G>C (n.512+13534G>C)
c.3460G>C
n.6280+13534G>C
c.6188G>C (p.Arg2063Pro)
c.5678G>C (p.Arg1893Pro)
c.4118G>C (p.Arg1373Pro)
c.4109G>C (p.Arg1370Pro)
n.6266+13534G>C
2g.15218888C>TCA1535039NBASc.4303G>A
c.4426+13534G>A
c.828G>A
c.2173G>A
c.6317G>A (p.Arg2106His)
c.512+13534G>A (n.512+13534G>A)
c.3460G>A
n.6280+13534G>A
c.6188G>A (p.Arg2063His)
c.5678G>A (p.Arg1893His)
c.4118G>A (p.Arg1373His)
c.4109G>A (p.Arg1370His)
n.6266+13534G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.15218888_15218889delinsCGCA2490796228NBASc.4302_4303delinsCG
c.4426+13533_4426+13534delinsCG
c.827_828delinsCG
c.2172_2173delinsCG
c.6316_6317delinsCG (p.Arg2106=)
c.512+13533_512+13534delinsCG (n.512+13533_512+13534delinsCG)
c.3459_3460delinsCG
n.6280+13533_6280+13534delinsCG
c.6187_6188delinsCG (p.Arg2063=)
c.5677_5678delinsCG (p.Arg1893=)
c.4117_4118delinsCG (p.Arg1373=)
c.4108_4109delinsCG (p.Arg1370=)
n.6266+13533_6266+13534delinsCG
2g.15218889G>ACA1535040NBASc.4302C>T
c.4426+13533C>T
c.827C>T
c.2172C>T
c.6316C>T (p.Arg2106Cys)
c.512+13533C>T (n.512+13533C>T)
c.3459C>T
n.6280+13533C>T
c.6187C>T (p.Arg2063Cys)
c.5677C>T (p.Arg1893Cys)
c.4117C>T (p.Arg1373Cys)
c.4108C>T (p.Arg1370Cys)
n.6266+13533C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.15218889G>CCA345884714NBASc.4302C>G
c.4426+13533C>G
c.827C>G
c.2172C>G
c.6316C>G (p.Arg2106Gly)
c.512+13533C>G (n.512+13533C>G)
c.3459C>G
n.6280+13533C>G
c.6187C>G (p.Arg2063Gly)
c.5677C>G (p.Arg1893Gly)
c.4117C>G (p.Arg1373Gly)
c.4108C>G (p.Arg1370Gly)
n.6266+13533C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.15218889G=CA2490796229NBASc.4302C=
c.4426+13533C=
c.827C=
c.2172C=
c.6316C= (p.Arg2106=)
c.512+13533C= (n.512+13533C=)
c.3459C=
n.6280+13533C=
c.6187C= (p.Arg2063=)
c.5677C= (p.Arg1893=)
c.4117C= (p.Arg1373=)
c.4108C= (p.Arg1370=)
n.6266+13533C=
2g.15218889G>TCA345884711NBASc.4302C>A
c.4426+13533C>A
c.827C>A
c.2172C>A
c.6316C>A (p.Arg2106Ser)
c.512+13533C>A (n.512+13533C>A)
c.3459C>A
n.6280+13533C>A
c.6187C>A (p.Arg2063Ser)
c.5677C>A (p.Arg1893Ser)
c.4117C>A (p.Arg1373Ser)
c.4108C>A (p.Arg1370Ser)
n.6266+13533C>A
2g.15218892delCA16617250NBASc.4302del
c.4426+13533del
c.827del
c.2172del
c.6316del (p.Arg2106AlafsTer14)
c.512+13533del (n.512+13533del)
c.3459del
n.6280+13533del
c.6187del (p.Arg2063AlafsTer14)
c.5677del (p.Arg1893AlafsTer14)
c.4117del (p.Arg1373AlafsTer14)
c.4108del (p.Arg1370AlafsTer14)
n.6266+13533del
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.15218890G>ACA424866964NBASc.4301C>T
c.4426+13532C>T
c.826C>T
c.2171C>T
c.6315C>T (p.Pro2105=)
c.512+13532C>T (n.512+13532C>T)
c.3458C>T
n.6280+13532C>T
c.6186C>T (p.Pro2062=)
c.5676C>T (p.Pro1892=)
c.4116C>T (p.Pro1372=)
c.4107C>T (p.Pro1369=)
n.6266+13532C>T
2g.15218890G>CCA424866962NBASc.4301C>G
c.4426+13532C>G
c.826C>G
c.2171C>G
c.6315C>G (p.Pro2105=)
c.512+13532C>G (n.512+13532C>G)
c.3458C>G
n.6280+13532C>G
c.6186C>G (p.Pro2062=)
c.5676C>G (p.Pro1892=)
c.4116C>G (p.Pro1372=)
c.4107C>G (p.Pro1369=)
n.6266+13532C>G
 ClinVar
2g.15218890G=CA2490796230NBASc.4301C=
c.4426+13532C=
c.826C=
c.2171C=
c.6315C= (p.Pro2105=)
c.512+13532C= (n.512+13532C=)
c.3458C=
n.6280+13532C=
c.6186C= (p.Pro2062=)
c.5676C= (p.Pro1892=)
c.4116C= (p.Pro1372=)
c.4107C= (p.Pro1369=)
n.6266+13532C=
2g.15218890G>TCA424866963NBASc.4301C>A
c.4426+13532C>A
c.826C>A
c.2171C>A
c.6315C>A (p.Pro2105=)
c.512+13532C>A (n.512+13532C>A)
c.3458C>A
n.6280+13532C>A
c.6186C>A (p.Pro2062=)
c.5676C>A (p.Pro1892=)
c.4116C>A (p.Pro1372=)
c.4107C>A (p.Pro1369=)
n.6266+13532C>A
 dbSNP gnomAD v2 gnomAD v4
2g.15218891G>ACA345884719NBASc.4300C>T
c.4426+13531C>T
c.825C>T
c.2170C>T
c.6314C>T (p.Pro2105Leu)
c.512+13531C>T (n.512+13531C>T)
c.3457C>T
n.6280+13531C>T
c.6185C>T (p.Pro2062Leu)
c.5675C>T (p.Pro1892Leu)
c.4115C>T (p.Pro1372Leu)
c.4106C>T (p.Pro1369Leu)
n.6266+13531C>T
2g.15218891G>CCA345884723NBASc.4300C>G
c.4426+13531C>G
c.825C>G
c.2170C>G
c.6314C>G (p.Pro2105Arg)
c.512+13531C>G (n.512+13531C>G)
c.3457C>G
n.6280+13531C>G
c.6185C>G (p.Pro2062Arg)
c.5675C>G (p.Pro1892Arg)
c.4115C>G (p.Pro1372Arg)
c.4106C>G (p.Pro1369Arg)
n.6266+13531C>G
2g.15218891G>TCA345884722NBASc.4300C>A
c.4426+13531C>A
c.825C>A
c.2170C>A
c.6314C>A (p.Pro2105His)
c.512+13531C>A (n.512+13531C>A)
c.3457C>A
n.6280+13531C>A
c.6185C>A (p.Pro2062His)
c.5675C>A (p.Pro1892His)
c.4115C>A (p.Pro1372His)
c.4106C>A (p.Pro1369His)
n.6266+13531C>A
2g.15218892G>ACA345884724NBASc.4299C>T
c.4426+13530C>T
c.824C>T
c.2169C>T
c.6313C>T (p.Pro2105Ser)
c.512+13530C>T (n.512+13530C>T)
c.3456C>T
n.6280+13530C>T
c.6184C>T (p.Pro2062Ser)
c.5674C>T (p.Pro1892Ser)
c.4114C>T (p.Pro1372Ser)
c.4105C>T (p.Pro1369Ser)
n.6266+13530C>T
2g.15218892G>CCA345884726NBASc.4299C>G
c.4426+13530C>G
c.824C>G
c.2169C>G
c.6313C>G (p.Pro2105Ala)
c.512+13530C>G (n.512+13530C>G)
c.3456C>G
n.6280+13530C>G
c.6184C>G (p.Pro2062Ala)
c.5674C>G (p.Pro1892Ala)
c.4114C>G (p.Pro1372Ala)
c.4105C>G (p.Pro1369Ala)
n.6266+13530C>G
 gnomAD v4
2g.15218892G=CA2490796231NBASc.4299C=
c.4426+13530C=
c.824C=
c.2169C=
c.6313C= (p.Pro2105=)
c.512+13530C= (n.512+13530C=)
c.3456C=
n.6280+13530C=
c.6184C= (p.Pro2062=)
c.5674C= (p.Pro1892=)
c.4114C= (p.Pro1372=)
c.4105C= (p.Pro1369=)
n.6266+13530C=
2g.15218892G>TCA345884725NBASc.4299C>A
c.4426+13530C>A
c.824C>A
c.2169C>A
c.6313C>A (p.Pro2105Thr)
c.512+13530C>A (n.512+13530C>A)
c.3456C>A
n.6280+13530C>A
c.6184C>A (p.Pro2062Thr)
c.5674C>A (p.Pro1892Thr)
c.4114C>A (p.Pro1372Thr)
c.4105C>A (p.Pro1369Thr)
n.6266+13530C>A
 dbSNP gnomAD v2 gnomAD v4
2g.15218892_15218893delinsGCCA2490796232NBASc.4298_4299delinsGC
c.4426+13529_4426+13530delinsGC
c.823_824delinsGC
c.2168_2169delinsGC
c.6312_6313delinsGC (p.Arg2104=)
c.512+13529_512+13530delinsGC (n.512+13529_512+13530delinsGC)
c.3455_3456delinsGC
n.6280+13529_6280+13530delinsGC
c.6183_6184delinsGC (p.Arg2061=)
c.5673_5674delinsGC (p.Arg1891=)
c.4113_4114delinsGC (p.Arg1371=)
c.4104_4105delinsGC (p.Arg1368=)
n.6266+13529_6266+13530delinsGC
2g.15218893C>ACA424866965NBASc.4298G>T
c.4426+13529G>T
c.823G>T
c.2168G>T
c.6312G>T (p.Arg2104=)
c.512+13529G>T (n.512+13529G>T)
c.3455G>T
n.6280+13529G>T
c.6183G>T (p.Arg2061=)
c.5673G>T (p.Arg1891=)
c.4113G>T (p.Arg1371=)
c.4104G>T (p.Arg1368=)
n.6266+13529G>T
2g.15218893C>GCA424866966NBASc.4298G>C
c.4426+13529G>C
c.823G>C
c.2168G>C
c.6312G>C (p.Arg2104=)
c.512+13529G>C (n.512+13529G>C)
c.3455G>C
n.6280+13529G>C
c.6183G>C (p.Arg2061=)
c.5673G>C (p.Arg1891=)
c.4113G>C (p.Arg1371=)
c.4104G>C (p.Arg1368=)
n.6266+13529G>C
2g.15218893C>TCA424866967NBASc.4298G>A
c.4426+13529G>A
c.823G>A
c.2168G>A
c.6312G>A (p.Arg2104=)
c.512+13529G>A (n.512+13529G>A)
c.3455G>A
n.6280+13529G>A
c.6183G>A (p.Arg2061=)
c.5673G>A (p.Arg1891=)
c.4113G>A (p.Arg1371=)
c.4104G>A (p.Arg1368=)
n.6266+13529G>A
 gnomAD v4
2g.15218894delCA758915134NBASc.4298del
c.4426+13529del
c.823del
c.2168del
c.6312del (p.Arg2106AlafsTer14)
c.512+13529del (n.512+13529del)
c.3455del
n.6280+13529del
c.6183del (p.Arg2063AlafsTer14)
c.5673del (p.Arg1893AlafsTer14)
c.4113del (p.Arg1373AlafsTer14)
c.4104del (p.Arg1370AlafsTer14)
n.6266+13529del
 ClinVar dbSNP gnomAD v4
2g.15218894C>ACA345884727NBASc.4297G>T
c.4426+13528G>T
c.822G>T
c.2167G>T
c.6311G>T (p.Arg2104Leu)
c.512+13528G>T (n.512+13528G>T)
c.3454G>T
n.6280+13528G>T
c.6182G>T (p.Arg2061Leu)
c.5672G>T (p.Arg1891Leu)
c.4112G>T (p.Arg1371Leu)
c.4103G>T (p.Arg1368Leu)
n.6266+13528G>T
 COSMIC
2g.15218894C=CA2490796233NBASc.4297G=
c.4426+13528G=
c.822G=
c.2167G=
c.6311G= (p.Arg2104=)
c.512+13528G= (n.512+13528G=)
c.3454G=
n.6280+13528G=
c.6182G= (p.Arg2061=)
c.5672G= (p.Arg1891=)
c.4112G= (p.Arg1371=)
c.4103G= (p.Arg1368=)
n.6266+13528G=
2g.15218894C>GCA345884730NBASc.4297G>C
c.4426+13528G>C
c.822G>C
c.2167G>C
c.6311G>C (p.Arg2104Pro)
c.512+13528G>C (n.512+13528G>C)
c.3454G>C
n.6280+13528G>C
c.6182G>C (p.Arg2061Pro)
c.5672G>C (p.Arg1891Pro)
c.4112G>C (p.Arg1371Pro)
c.4103G>C (p.Arg1368Pro)
n.6266+13528G>C
 dbSNP gnomAD v2 gnomAD v4
2g.15218894C>TCA1535041NBASc.4297G>A
c.4426+13528G>A
c.822G>A
c.2167G>A
c.6311G>A (p.Arg2104Gln)
c.512+13528G>A (n.512+13528G>A)
c.3454G>A
n.6280+13528G>A
c.6182G>A (p.Arg2061Gln)
c.5672G>A (p.Arg1891Gln)
c.4112G>A (p.Arg1371Gln)
c.4103G>A (p.Arg1368Gln)
n.6266+13528G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.15218895G>ACA1535042NBASc.4296C>T
c.4426+13527C>T
c.821C>T
c.2166C>T
c.6310C>T (p.Arg2104Trp)
c.512+13527C>T (n.512+13527C>T)
c.3453C>T
n.6280+13527C>T
c.6181C>T (p.Arg2061Trp)
c.5671C>T (p.Arg1891Trp)
c.4111C>T (p.Arg1371Trp)
c.4102C>T (p.Arg1368Trp)
n.6266+13527C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.15218895G>CCA1535043NBASc.4296C>G
c.4426+13527C>G
c.821C>G
c.2166C>G
c.6310C>G (p.Arg2104Gly)
c.512+13527C>G (n.512+13527C>G)
c.3453C>G
n.6280+13527C>G
c.6181C>G (p.Arg2061Gly)
c.5671C>G (p.Arg1891Gly)
c.4111C>G (p.Arg1371Gly)
c.4102C>G (p.Arg1368Gly)
n.6266+13527C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.15218895G=CA2490796234NBASc.4296C=
c.4426+13527C=
c.821C=
c.2166C=
c.6310C= (p.Arg2104=)
c.512+13527C= (n.512+13527C=)
c.3453C=
n.6280+13527C=
c.6181C= (p.Arg2061=)
c.5671C= (p.Arg1891=)
c.4111C= (p.Arg1371=)
c.4102C= (p.Arg1368=)
n.6266+13527C=
2g.15218895G>TCA424866968NBASc.4296C>A
c.4426+13527C>A
c.821C>A
c.2166C>A
c.6310C>A (p.Arg2104=)
c.512+13527C>A (n.512+13527C>A)
c.3453C>A
n.6280+13527C>A
c.6181C>A (p.Arg2061=)
c.5671C>A (p.Arg1891=)
c.4111C>A (p.Arg1371=)
c.4102C>A (p.Arg1368=)
n.6266+13527C>A
2g.15218896C>ACA424866971NBASc.4295G>T
c.4426+13526G>T
c.820G>T
c.2165G>T
c.6309G>T (p.Val2103=)
c.512+13526G>T (n.512+13526G>T)
c.3452G>T
n.6280+13526G>T
c.6180G>T (p.Val2060=)
c.5670G>T (p.Val1890=)
c.4110G>T (p.Val1370=)
c.4101G>T (p.Val1367=)
n.6266+13526G>T
 dbSNP gnomAD v2 gnomAD v4
2g.15218896C=CA2490796235NBASc.4295G=
c.4426+13526G=
c.820G=
c.2165G=
c.6309G= (p.Val2103=)
c.512+13526G= (n.512+13526G=)
c.3452G=
n.6280+13526G=
c.6180G= (p.Val2060=)
c.5670G= (p.Val1890=)
c.4110G= (p.Val1370=)
c.4101G= (p.Val1367=)
n.6266+13526G=
2g.15218896C>GCA424866969NBASc.4295G>C
c.4426+13526G>C
c.820G>C
c.2165G>C
c.6309G>C (p.Val2103=)
c.512+13526G>C (n.512+13526G>C)
c.3452G>C
n.6280+13526G>C
c.6180G>C (p.Val2060=)
c.5670G>C (p.Val1890=)
c.4110G>C (p.Val1370=)
c.4101G>C (p.Val1367=)
n.6266+13526G>C
2g.15218896C>TCA424866970NBASc.4295G>A
c.4426+13526G>A
c.820G>A
c.2165G>A
c.6309G>A (p.Val2103=)
c.512+13526G>A (n.512+13526G>A)
c.3452G>A
n.6280+13526G>A
c.6180G>A (p.Val2060=)
c.5670G>A (p.Val1890=)
c.4110G>A (p.Val1370=)
c.4101G>A (p.Val1367=)
n.6266+13526G>A
2g.15218897A>CCA345884738NBASc.4294T>G
c.4426+13525T>G
c.819T>G
c.2164T>G
c.6308T>G (p.Val2103Gly)
c.512+13525T>G (n.512+13525T>G)
c.3451T>G
n.6280+13525T>G
c.6179T>G (p.Val2060Gly)
c.5669T>G (p.Val1890Gly)
c.4109T>G (p.Val1370Gly)
c.4100T>G (p.Val1367Gly)
n.6266+13525T>G
2g.15218897A>GCA345884752NBASc.4294T>C
c.4426+13525T>C
c.819T>C
c.2164T>C
c.6308T>C (p.Val2103Ala)
c.512+13525T>C (n.512+13525T>C)
c.3451T>C
n.6280+13525T>C
c.6179T>C (p.Val2060Ala)
c.5669T>C (p.Val1890Ala)
c.4109T>C (p.Val1370Ala)
c.4100T>C (p.Val1367Ala)
n.6266+13525T>C
2g.15218897A>TCA345884755NBASc.4294T>A
c.4426+13525T>A
c.819T>A
c.2164T>A
c.6308T>A (p.Val2103Glu)
c.512+13525T>A (n.512+13525T>A)
c.3451T>A
n.6280+13525T>A
c.6179T>A (p.Val2060Glu)
c.5669T>A (p.Val1890Glu)
c.4109T>A (p.Val1370Glu)
c.4100T>A (p.Val1367Glu)
n.6266+13525T>A
2g.15218897_15218898delinsACCA2490796236NBASc.4293_4294delinsGT
c.4426+13524_4426+13525delinsGT
c.818_819delinsGT
c.2163_2164delinsGT
c.6307_6308delinsGT (p.Val2103=)
c.512+13524_512+13525delinsGT (n.512+13524_512+13525delinsGT)
c.3450_3451delinsGT
n.6280+13524_6280+13525delinsGT
c.6178_6179delinsGT (p.Val2060=)
c.5668_5669delinsGT (p.Val1890=)
c.4108_4109delinsGT (p.Val1370=)
c.4099_4100delinsGT (p.Val1367=)
n.6266+13524_6266+13525delinsGT
2g.15218898C>ACA345884759NBASc.4293G>T
c.4426+13524G>T
c.818G>T
c.2163G>T
c.6307G>T (p.Val2103Leu)
c.512+13524G>T (n.512+13524G>T)
c.3450G>T
n.6280+13524G>T
c.6178G>T (p.Val2060Leu)
c.5668G>T (p.Val1890Leu)
c.4108G>T (p.Val1370Leu)
c.4099G>T (p.Val1367Leu)
n.6266+13524G>T
 gnomAD v4
2g.15218898C=CA2490796237NBASc.4293G=
c.4426+13524G=
c.818G=
c.2163G=
c.6307G= (p.Val2103=)
c.512+13524G= (n.512+13524G=)
c.3450G=
n.6280+13524G=
c.6178G= (p.Val2060=)
c.5668G= (p.Val1890=)
c.4108G= (p.Val1370=)
c.4099G= (p.Val1367=)
n.6266+13524G=
2g.15218898C>GCA1535044NBASc.4293G>C
c.4426+13524G>C
c.818G>C
c.2163G>C
c.6307G>C (p.Val2103Leu)
c.512+13524G>C (n.512+13524G>C)
c.3450G>C
n.6280+13524G>C
c.6178G>C (p.Val2060Leu)
c.5668G>C (p.Val1890Leu)
c.4108G>C (p.Val1370Leu)
c.4099G>C (p.Val1367Leu)
n.6266+13524G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.15218898C>TCA42584460NBASc.4293G>A
c.4426+13524G>A
c.818G>A
c.2163G>A
c.6307G>A (p.Val2103Met)
c.512+13524G>A (n.512+13524G>A)
c.3450G>A
n.6280+13524G>A
c.6178G>A (p.Val2060Met)
c.5668G>A (p.Val1890Met)
c.4108G>A (p.Val1370Met)
c.4099G>A (p.Val1367Met)
n.6266+13524G>A
 dbSNP gnomAD v4
2g.15218899delCA758915144NBASc.4293del
c.4426+13524del
c.818del
c.2163del
c.6307del (p.Val2103CysfsTer17)
c.512+13524del (n.512+13524del)
c.3450del
n.6280+13524del
c.6178del (p.Val2060CysfsTer17)
c.5668del (p.Val1890CysfsTer17)
c.4108del (p.Val1370CysfsTer17)
c.4099del (p.Val1367CysfsTer17)
n.6266+13524del
 dbSNP gnomAD v3 gnomAD v4
2g.15218899C>ACA424866972NBASc.4292G>T
c.4426+13523G>T
c.817G>T
c.2162G>T
c.6306G>T (p.Pro2102=)
c.512+13523G>T (n.512+13523G>T)
c.3449G>T
n.6280+13523G>T
c.6177G>T (p.Pro2059=)
c.5667G>T (p.Pro1889=)
c.4107G>T (p.Pro1369=)
c.4098G>T (p.Pro1366=)
n.6266+13523G>T
 dbSNP gnomAD v4
2g.15218899C=CA2490796238NBASc.4292G=
c.4426+13523G=
c.817G=
c.2162G=
c.6306G= (p.Pro2102=)
c.512+13523G= (n.512+13523G=)
c.3449G=
n.6280+13523G=
c.6177G= (p.Pro2059=)
c.5667G= (p.Pro1889=)
c.4107G= (p.Pro1369=)
c.4098G= (p.Pro1366=)
n.6266+13523G=
2g.15218899C>GCA424866973NBASc.4292G>C
c.4426+13523G>C
c.817G>C
c.2162G>C
c.6306G>C (p.Pro2102=)
c.512+13523G>C (n.512+13523G>C)
c.3449G>C
n.6280+13523G>C
c.6177G>C (p.Pro2059=)
c.5667G>C (p.Pro1889=)
c.4107G>C (p.Pro1369=)
c.4098G>C (p.Pro1366=)
n.6266+13523G>C
 gnomAD v4
2g.15218899C>TCA1535045NBASc.4292G>A
c.4426+13523G>A
c.817G>A
c.2162G>A
c.6306G>A (p.Pro2102=)
c.512+13523G>A (n.512+13523G>A)
c.3449G>A
n.6280+13523G>A
c.6177G>A (p.Pro2059=)
c.5667G>A (p.Pro1889=)
c.4107G>A (p.Pro1369=)
c.4098G>A (p.Pro1366=)
n.6266+13523G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.15218901_15218908delCA2576680242NBASc.4285_4292del
c.4426+13516_4426+13523del
c.810_817del
c.2155_2162del
c.6299_6306del (p.Ala2100GlyfsTer19)
c.512+13516_512+13523del (n.512+13516_512+13523del)
c.3442_3449del
n.6280+13516_6280+13523del
c.6170_6177del (p.Ala2057GlyfsTer19)
c.5660_5667del (p.Ala1887GlyfsTer19)
c.4100_4107del (p.Ala1367GlyfsTer19)
c.4091_4098del (p.Ala1364GlyfsTer19)
n.6266+13516_6266+13523del
 gnomAD v4
2g.15218900G>ACA1535047NBASc.4291C>T
c.4426+13522C>T
c.816C>T
c.2161C>T
c.6305C>T (p.Pro2102Leu)
c.512+13522C>T (n.512+13522C>T)
c.3448C>T
n.6280+13522C>T
c.6176C>T (p.Pro2059Leu)
c.5666C>T (p.Pro1889Leu)
c.4106C>T (p.Pro1369Leu)
c.4097C>T (p.Pro1366Leu)
n.6266+13522C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.15218900G>CCA1535046NBASc.4291C>G
c.4426+13522C>G
c.816C>G
c.2161C>G
c.6305C>G (p.Pro2102Arg)
c.512+13522C>G (n.512+13522C>G)
c.3448C>G
n.6280+13522C>G
c.6176C>G (p.Pro2059Arg)
c.5666C>G (p.Pro1889Arg)
c.4106C>G (p.Pro1369Arg)
c.4097C>G (p.Pro1366Arg)
n.6266+13522C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.15218900G=CA2490796239NBASc.4291C=
c.4426+13522C=
c.816C=
c.2161C=
c.6305C= (p.Pro2102=)
c.512+13522C= (n.512+13522C=)
c.3448C=
n.6280+13522C=
c.6176C= (p.Pro2059=)
c.5666C= (p.Pro1889=)
c.4106C= (p.Pro1369=)
c.4097C= (p.Pro1366=)
n.6266+13522C=
2g.15218900G>TCA345884772NBASc.4291C>A
c.4426+13522C>A
c.816C>A
c.2161C>A
c.6305C>A (p.Pro2102Gln)
c.512+13522C>A (n.512+13522C>A)
c.3448C>A
n.6280+13522C>A
c.6176C>A (p.Pro2059Gln)
c.5666C>A (p.Pro1889Gln)
c.4106C>A (p.Pro1369Gln)
c.4097C>A (p.Pro1366Gln)
n.6266+13522C>A
 gnomAD v4
2g.15218901G>ACA42584487NBASc.4290C>T
c.4426+13521C>T
c.815C>T
c.2160C>T
c.6304C>T (p.Pro2102Ser)
c.512+13521C>T (n.512+13521C>T)
c.3447C>T
n.6280+13521C>T
c.6175C>T (p.Pro2059Ser)
c.5665C>T (p.Pro1889Ser)
c.4105C>T (p.Pro1369Ser)
c.4096C>T (p.Pro1366Ser)
n.6266+13521C>T
 dbSNP
2g.15218901G>CCA345884781NBASc.4290C>G
c.4426+13521C>G
c.815C>G
c.2160C>G
c.6304C>G (p.Pro2102Ala)
c.512+13521C>G (n.512+13521C>G)
c.3447C>G
n.6280+13521C>G
c.6175C>G (p.Pro2059Ala)
c.5665C>G (p.Pro1889Ala)
c.4105C>G (p.Pro1369Ala)
c.4096C>G (p.Pro1366Ala)
n.6266+13521C>G
2g.15218901G=CA2490796240NBASc.4290C=
c.4426+13521C=
c.815C=
c.2160C=
c.6304C= (p.Pro2102=)
c.512+13521C= (n.512+13521C=)
c.3447C=
n.6280+13521C=
c.6175C= (p.Pro2059=)
c.5665C= (p.Pro1889=)
c.4105C= (p.Pro1369=)
c.4096C= (p.Pro1366=)
n.6266+13521C=
2g.15218901G>TCA345884783NBASc.4290C>A
c.4426+13521C>A
c.815C>A
c.2160C>A
c.6304C>A (p.Pro2102Thr)
c.512+13521C>A (n.512+13521C>A)
c.3447C>A
n.6280+13521C>A
c.6175C>A (p.Pro2059Thr)
c.5665C>A (p.Pro1889Thr)
c.4105C>A (p.Pro1369Thr)
c.4096C>A (p.Pro1366Thr)
n.6266+13521C>A
2g.15218902C>ACA345884788NBASc.4289G>T
c.4426+13520G>T
c.814G>T
c.2159G>T
c.6303G>T (p.Trp2101Cys)
c.512+13520G>T (n.512+13520G>T)
c.3446G>T
n.6280+13520G>T
c.6174G>T (p.Trp2058Cys)
c.5664G>T (p.Trp1888Cys)
c.4104G>T (p.Trp1368Cys)
c.4095G>T (p.Trp1365Cys)
n.6266+13520G>T
 gnomAD v4
2g.15218902C>GCA345884790NBASc.4289G>C
c.4426+13520G>C
c.814G>C
c.2159G>C
c.6303G>C (p.Trp2101Cys)
c.512+13520G>C (n.512+13520G>C)
c.3446G>C
n.6280+13520G>C
c.6174G>C (p.Trp2058Cys)
c.5664G>C (p.Trp1888Cys)
c.4104G>C (p.Trp1368Cys)
c.4095G>C (p.Trp1365Cys)
n.6266+13520G>C
2g.15218902C>TCA345884793NBASc.4289G>A
c.4426+13520G>A
c.814G>A
c.2159G>A
c.6303G>A (p.Trp2101Ter)
c.512+13520G>A (n.512+13520G>A)
c.3446G>A
n.6280+13520G>A
c.6174G>A (p.Trp2058Ter)
c.5664G>A (p.Trp1888Ter)
c.4104G>A (p.Trp1368Ter)
c.4095G>A (p.Trp1365Ter)
n.6266+13520G>A
2g.15218903C>ACA345884795NBASc.4288G>T
c.4426+13519G>T
c.813G>T
c.2158G>T
c.6302G>T (p.Trp2101Leu)
c.512+13519G>T (n.512+13519G>T)
c.3445G>T
n.6280+13519G>T
c.6173G>T (p.Trp2058Leu)
c.5663G>T (p.Trp1888Leu)
c.4103G>T (p.Trp1368Leu)
c.4094G>T (p.Trp1365Leu)
n.6266+13519G>T
2g.15218903C>GCA345884799NBASc.4288G>C
c.4426+13519G>C
c.813G>C
c.2158G>C
c.6302G>C (p.Trp2101Ser)
c.512+13519G>C (n.512+13519G>C)
c.3445G>C
n.6280+13519G>C
c.6173G>C (p.Trp2058Ser)
c.5663G>C (p.Trp1888Ser)
c.4103G>C (p.Trp1368Ser)
c.4094G>C (p.Trp1365Ser)
n.6266+13519G>C
2g.15218903C>TCA345884802NBASc.4288G>A
c.4426+13519G>A
c.813G>A
c.2158G>A
c.6302G>A (p.Trp2101Ter)
c.512+13519G>A (n.512+13519G>A)
c.3445G>A
n.6280+13519G>A
c.6173G>A (p.Trp2058Ter)
c.5663G>A (p.Trp1888Ter)
c.4103G>A (p.Trp1368Ter)
c.4094G>A (p.Trp1365Ter)
n.6266+13519G>A

Number of alleles fetched