Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.115046515T>ACA374630909TNCc.318-4174A>T
c.3215-4174A>T (n.3215-4174A>T)
c.3931A>T (p.Thr1311Ser)
c.1963A>T (p.Thr655Ser)
c.619A>T (p.Thr207Ser)
c.3978A>T
c.5020A>T (p.Thr1674Ser)
c.4474A>T (p.Thr1492Ser)
c.4307-4174A>T (n.4307-4174A>T)
n.338A>T
n.253-4174A>T
n.40-4174A>T
c.707A>T
c.4747A>T (p.Thr1583Ser)
c.4034-4174A>T (n.4034-4174A>T)
c.3382A>T (p.Thr1128Ser)
c.5296A>T (p.Thr1766Ser)
c.3488-4174A>T (n.3488-4174A>T)
c.5023A>T (p.Thr1675Ser)
c.4477A>T (p.Thr1493Ser)
c.4580-4174A>T (n.4580-4174A>T)
c.4204A>T (p.Thr1402Ser)
c.3761-4174A>T (n.3761-4174A>T)
c.3655A>T (p.Thr1219Ser)
c.5569A>T (p.Thr1857Ser)
c.5293A>T (p.Thr1765Ser)
9g.115046515T>CCA374630911TNCc.318-4174A>G
c.3215-4174A>G (n.3215-4174A>G)
c.3931A>G (p.Thr1311Ala)
c.1963A>G (p.Thr655Ala)
c.619A>G (p.Thr207Ala)
c.3978A>G
c.5020A>G (p.Thr1674Ala)
c.4474A>G (p.Thr1492Ala)
c.4307-4174A>G (n.4307-4174A>G)
n.338A>G
n.253-4174A>G
n.40-4174A>G
c.707A>G
c.4747A>G (p.Thr1583Ala)
c.4034-4174A>G (n.4034-4174A>G)
c.3382A>G (p.Thr1128Ala)
c.5296A>G (p.Thr1766Ala)
c.3488-4174A>G (n.3488-4174A>G)
c.5023A>G (p.Thr1675Ala)
c.4477A>G (p.Thr1493Ala)
c.4580-4174A>G (n.4580-4174A>G)
c.4204A>G (p.Thr1402Ala)
c.3761-4174A>G (n.3761-4174A>G)
c.3655A>G (p.Thr1219Ala)
c.5569A>G (p.Thr1857Ala)
c.5293A>G (p.Thr1765Ala)
 COSMIC
9g.115046515T>GCA374630907TNCc.318-4174A>C
c.3215-4174A>C (n.3215-4174A>C)
c.3931A>C (p.Thr1311Pro)
c.1963A>C (p.Thr655Pro)
c.619A>C (p.Thr207Pro)
c.3978A>C
c.5020A>C (p.Thr1674Pro)
c.4474A>C (p.Thr1492Pro)
c.4307-4174A>C (n.4307-4174A>C)
n.338A>C
n.253-4174A>C
n.40-4174A>C
c.707A>C
c.4747A>C (p.Thr1583Pro)
c.4034-4174A>C (n.4034-4174A>C)
c.3382A>C (p.Thr1128Pro)
c.5296A>C (p.Thr1766Pro)
c.3488-4174A>C (n.3488-4174A>C)
c.5023A>C (p.Thr1675Pro)
c.4477A>C (p.Thr1493Pro)
c.4580-4174A>C (n.4580-4174A>C)
c.4204A>C (p.Thr1402Pro)
c.3761-4174A>C (n.3761-4174A>C)
c.3655A>C (p.Thr1219Pro)
c.5569A>C (p.Thr1857Pro)
c.5293A>C (p.Thr1765Pro)
9g.115046516A=CA1874118897TNCc.318-4175T=
c.3215-4175T= (n.3215-4175T=)
c.3930T= (p.Arg1310=)
c.1962T= (p.Arg654=)
c.618T= (p.Arg206=)
c.3977T=
c.5019T= (p.Arg1673=)
c.4473T= (p.Arg1491=)
c.4307-4175T= (n.4307-4175T=)
n.337T=
n.253-4175T=
n.40-4175T=
c.706T=
c.4746T= (p.Arg1582=)
c.4034-4175T= (n.4034-4175T=)
c.3381T= (p.Arg1127=)
c.5295T= (p.Arg1765=)
c.3488-4175T= (n.3488-4175T=)
c.5022T= (p.Arg1674=)
c.4476T= (p.Arg1492=)
c.4580-4175T= (n.4580-4175T=)
c.4203T= (p.Arg1401=)
c.3761-4175T= (n.3761-4175T=)
c.3654T= (p.Arg1218=)
c.5568T= (p.Arg1856=)
c.5292T= (p.Arg1764=)
9g.115046516A>CCA466912431TNCc.318-4175T>G
c.3215-4175T>G (n.3215-4175T>G)
c.3930T>G (p.Arg1310=)
c.1962T>G (p.Arg654=)
c.618T>G (p.Arg206=)
c.3977T>G
c.5019T>G (p.Arg1673=)
c.4473T>G (p.Arg1491=)
c.4307-4175T>G (n.4307-4175T>G)
n.337T>G
n.253-4175T>G
n.40-4175T>G
c.706T>G
c.4746T>G (p.Arg1582=)
c.4034-4175T>G (n.4034-4175T>G)
c.3381T>G (p.Arg1127=)
c.5295T>G (p.Arg1765=)
c.3488-4175T>G (n.3488-4175T>G)
c.5022T>G (p.Arg1674=)
c.4476T>G (p.Arg1492=)
c.4580-4175T>G (n.4580-4175T>G)
c.4203T>G (p.Arg1401=)
c.3761-4175T>G (n.3761-4175T>G)
c.3654T>G (p.Arg1218=)
c.5568T>G (p.Arg1856=)
c.5292T>G (p.Arg1764=)
9g.115046516A>GCA466912429TNCc.318-4175T>C
c.3215-4175T>C (n.3215-4175T>C)
c.3930T>C (p.Arg1310=)
c.1962T>C (p.Arg654=)
c.618T>C (p.Arg206=)
c.3977T>C
c.5019T>C (p.Arg1673=)
c.4473T>C (p.Arg1491=)
c.4307-4175T>C (n.4307-4175T>C)
n.337T>C
n.253-4175T>C
n.40-4175T>C
c.706T>C
c.4746T>C (p.Arg1582=)
c.4034-4175T>C (n.4034-4175T>C)
c.3381T>C (p.Arg1127=)
c.5295T>C (p.Arg1765=)
c.3488-4175T>C (n.3488-4175T>C)
c.5022T>C (p.Arg1674=)
c.4476T>C (p.Arg1492=)
c.4580-4175T>C (n.4580-4175T>C)
c.4203T>C (p.Arg1401=)
c.3761-4175T>C (n.3761-4175T>C)
c.3654T>C (p.Arg1218=)
c.5568T>C (p.Arg1856=)
c.5292T>C (p.Arg1764=)
 gnomAD v4
9g.115046516A>TCA466912430TNCc.318-4175T>A
c.3215-4175T>A (n.3215-4175T>A)
c.3930T>A (p.Arg1310=)
c.1962T>A (p.Arg654=)
c.618T>A (p.Arg206=)
c.3977T>A
c.5019T>A (p.Arg1673=)
c.4473T>A (p.Arg1491=)
c.4307-4175T>A (n.4307-4175T>A)
n.337T>A
n.253-4175T>A
n.40-4175T>A
c.706T>A
c.4746T>A (p.Arg1582=)
c.4034-4175T>A (n.4034-4175T>A)
c.3381T>A (p.Arg1127=)
c.5295T>A (p.Arg1765=)
c.3488-4175T>A (n.3488-4175T>A)
c.5022T>A (p.Arg1674=)
c.4476T>A (p.Arg1492=)
c.4580-4175T>A (n.4580-4175T>A)
c.4203T>A (p.Arg1401=)
c.3761-4175T>A (n.3761-4175T>A)
c.3654T>A (p.Arg1218=)
c.5568T>A (p.Arg1856=)
c.5292T>A (p.Arg1764=)
 dbSNP
9g.115046517C>ACA374630915TNCc.318-4176G>T
c.3215-4176G>T (n.3215-4176G>T)
c.3929G>T (p.Arg1310Leu)
c.1961G>T (p.Arg654Leu)
c.617G>T (p.Arg206Leu)
c.3976G>T
c.5018G>T (p.Arg1673Leu)
c.4472G>T (p.Arg1491Leu)
c.4307-4176G>T (n.4307-4176G>T)
n.336G>T
n.253-4176G>T
n.40-4176G>T
c.705G>T
c.4745G>T (p.Arg1582Leu)
c.4034-4176G>T (n.4034-4176G>T)
c.3380G>T (p.Arg1127Leu)
c.5294G>T (p.Arg1765Leu)
c.3488-4176G>T (n.3488-4176G>T)
c.5021G>T (p.Arg1674Leu)
c.4475G>T (p.Arg1492Leu)
c.4580-4176G>T (n.4580-4176G>T)
c.4202G>T (p.Arg1401Leu)
c.3761-4176G>T (n.3761-4176G>T)
c.3653G>T (p.Arg1218Leu)
c.5567G>T (p.Arg1856Leu)
c.5291G>T (p.Arg1764Leu)
9g.115046517C=CA1874118898TNCc.318-4176G=
c.3215-4176G= (n.3215-4176G=)
c.3929G= (p.Arg1310=)
c.1961G= (p.Arg654=)
c.617G= (p.Arg206=)
c.3976G=
c.5018G= (p.Arg1673=)
c.4472G= (p.Arg1491=)
c.4307-4176G= (n.4307-4176G=)
n.336G=
n.253-4176G=
n.40-4176G=
c.705G=
c.4745G= (p.Arg1582=)
c.4034-4176G= (n.4034-4176G=)
c.3380G= (p.Arg1127=)
c.5294G= (p.Arg1765=)
c.3488-4176G= (n.3488-4176G=)
c.5021G= (p.Arg1674=)
c.4475G= (p.Arg1492=)
c.4580-4176G= (n.4580-4176G=)
c.4202G= (p.Arg1401=)
c.3761-4176G= (n.3761-4176G=)
c.3653G= (p.Arg1218=)
c.5567G= (p.Arg1856=)
c.5291G= (p.Arg1764=)
9g.115046517C>GCA374630913TNCc.318-4176G>C
c.3215-4176G>C (n.3215-4176G>C)
c.3929G>C (p.Arg1310Pro)
c.1961G>C (p.Arg654Pro)
c.617G>C (p.Arg206Pro)
c.3976G>C
c.5018G>C (p.Arg1673Pro)
c.4472G>C (p.Arg1491Pro)
c.4307-4176G>C (n.4307-4176G>C)
n.336G>C
n.253-4176G>C
n.40-4176G>C
c.705G>C
c.4745G>C (p.Arg1582Pro)
c.4034-4176G>C (n.4034-4176G>C)
c.3380G>C (p.Arg1127Pro)
c.5294G>C (p.Arg1765Pro)
c.3488-4176G>C (n.3488-4176G>C)
c.5021G>C (p.Arg1674Pro)
c.4475G>C (p.Arg1492Pro)
c.4580-4176G>C (n.4580-4176G>C)
c.4202G>C (p.Arg1401Pro)
c.3761-4176G>C (n.3761-4176G>C)
c.3653G>C (p.Arg1218Pro)
c.5567G>C (p.Arg1856Pro)
c.5291G>C (p.Arg1764Pro)
 dbSNP
9g.115046517C>TCA5207771TNCc.318-4176G>A
c.3215-4176G>A (n.3215-4176G>A)
c.3929G>A (p.Arg1310His)
c.1961G>A (p.Arg654His)
c.617G>A (p.Arg206His)
c.3976G>A
c.5018G>A (p.Arg1673His)
c.4472G>A (p.Arg1491His)
c.4307-4176G>A (n.4307-4176G>A)
n.336G>A
n.253-4176G>A
n.40-4176G>A
c.705G>A
c.4745G>A (p.Arg1582His)
c.4034-4176G>A (n.4034-4176G>A)
c.3380G>A (p.Arg1127His)
c.5294G>A (p.Arg1765His)
c.3488-4176G>A (n.3488-4176G>A)
c.5021G>A (p.Arg1674His)
c.4475G>A (p.Arg1492His)
c.4580-4176G>A (n.4580-4176G>A)
c.4202G>A (p.Arg1401His)
c.3761-4176G>A (n.3761-4176G>A)
c.3653G>A (p.Arg1218His)
c.5567G>A (p.Arg1856His)
c.5291G>A (p.Arg1764His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.115046518G>ACA198692602TNCc.318-4177C>T
c.3215-4177C>T (n.3215-4177C>T)
c.3928C>T (p.Arg1310Cys)
c.1960C>T (p.Arg654Cys)
c.616C>T (p.Arg206Cys)
c.3975C>T
c.5017C>T (p.Arg1673Cys)
c.4471C>T (p.Arg1491Cys)
c.4307-4177C>T (n.4307-4177C>T)
n.335C>T
n.253-4177C>T
n.40-4177C>T
c.704C>T
c.4744C>T (p.Arg1582Cys)
c.4034-4177C>T (n.4034-4177C>T)
c.3379C>T (p.Arg1127Cys)
c.5293C>T (p.Arg1765Cys)
c.3488-4177C>T (n.3488-4177C>T)
c.5020C>T (p.Arg1674Cys)
c.4474C>T (p.Arg1492Cys)
c.4580-4177C>T (n.4580-4177C>T)
c.4201C>T (p.Arg1401Cys)
c.3761-4177C>T (n.3761-4177C>T)
c.3652C>T (p.Arg1218Cys)
c.5566C>T (p.Arg1856Cys)
c.5290C>T (p.Arg1764Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.115046518G>CCA374630917TNCc.318-4177C>G
c.3215-4177C>G (n.3215-4177C>G)
c.3928C>G (p.Arg1310Gly)
c.1960C>G (p.Arg654Gly)
c.616C>G (p.Arg206Gly)
c.3975C>G
c.5017C>G (p.Arg1673Gly)
c.4471C>G (p.Arg1491Gly)
c.4307-4177C>G (n.4307-4177C>G)
n.335C>G
n.253-4177C>G
n.40-4177C>G
c.704C>G
c.4744C>G (p.Arg1582Gly)
c.4034-4177C>G (n.4034-4177C>G)
c.3379C>G (p.Arg1127Gly)
c.5293C>G (p.Arg1765Gly)
c.3488-4177C>G (n.3488-4177C>G)
c.5020C>G (p.Arg1674Gly)
c.4474C>G (p.Arg1492Gly)
c.4580-4177C>G (n.4580-4177C>G)
c.4201C>G (p.Arg1401Gly)
c.3761-4177C>G (n.3761-4177C>G)
c.3652C>G (p.Arg1218Gly)
c.5566C>G (p.Arg1856Gly)
c.5290C>G (p.Arg1764Gly)
9g.115046518G=CA1874118899TNCc.318-4177C=
c.3215-4177C= (n.3215-4177C=)
c.3928C= (p.Arg1310=)
c.1960C= (p.Arg654=)
c.616C= (p.Arg206=)
c.3975C=
c.5017C= (p.Arg1673=)
c.4471C= (p.Arg1491=)
c.4307-4177C= (n.4307-4177C=)
n.335C=
n.253-4177C=
n.40-4177C=
c.704C=
c.4744C= (p.Arg1582=)
c.4034-4177C= (n.4034-4177C=)
c.3379C= (p.Arg1127=)
c.5293C= (p.Arg1765=)
c.3488-4177C= (n.3488-4177C=)
c.5020C= (p.Arg1674=)
c.4474C= (p.Arg1492=)
c.4580-4177C= (n.4580-4177C=)
c.4201C= (p.Arg1401=)
c.3761-4177C= (n.3761-4177C=)
c.3652C= (p.Arg1218=)
c.5566C= (p.Arg1856=)
c.5290C= (p.Arg1764=)
9g.115046518G>TCA374630919TNCc.318-4177C>A
c.3215-4177C>A (n.3215-4177C>A)
c.3928C>A (p.Arg1310Ser)
c.1960C>A (p.Arg654Ser)
c.616C>A (p.Arg206Ser)
c.3975C>A
c.5017C>A (p.Arg1673Ser)
c.4471C>A (p.Arg1491Ser)
c.4307-4177C>A (n.4307-4177C>A)
n.335C>A
n.253-4177C>A
n.40-4177C>A
c.704C>A
c.4744C>A (p.Arg1582Ser)
c.4034-4177C>A (n.4034-4177C>A)
c.3379C>A (p.Arg1127Ser)
c.5293C>A (p.Arg1765Ser)
c.3488-4177C>A (n.3488-4177C>A)
c.5020C>A (p.Arg1674Ser)
c.4474C>A (p.Arg1492Ser)
c.4580-4177C>A (n.4580-4177C>A)
c.4201C>A (p.Arg1401Ser)
c.3761-4177C>A (n.3761-4177C>A)
c.3652C>A (p.Arg1218Ser)
c.5566C>A (p.Arg1856Ser)
c.5290C>A (p.Arg1764Ser)
 dbSNP gnomAD v4
9g.115046519T>ACA374630921TNCc.318-4178A>T
c.3215-4178A>T (n.3215-4178A>T)
c.3927A>T (p.Glu1309Asp)
c.1959A>T (p.Glu653Asp)
c.615A>T (p.Glu205Asp)
c.3974A>T
c.5016A>T (p.Glu1672Asp)
c.4470A>T (p.Glu1490Asp)
c.4307-4178A>T (n.4307-4178A>T)
n.334A>T
n.253-4178A>T
n.40-4178A>T
c.703A>T
c.4743A>T (p.Glu1581Asp)
c.4034-4178A>T (n.4034-4178A>T)
c.3378A>T (p.Glu1126Asp)
c.5292A>T (p.Glu1764Asp)
c.3488-4178A>T (n.3488-4178A>T)
c.5019A>T (p.Glu1673Asp)
c.4473A>T (p.Glu1491Asp)
c.4580-4178A>T (n.4580-4178A>T)
c.4200A>T (p.Glu1400Asp)
c.3761-4178A>T (n.3761-4178A>T)
c.3651A>T (p.Glu1217Asp)
c.5565A>T (p.Glu1855Asp)
c.5289A>T (p.Glu1763Asp)
9g.115046519T>CCA466912435TNCc.318-4178A>G
c.3215-4178A>G (n.3215-4178A>G)
c.3927A>G (p.Glu1309=)
c.1959A>G (p.Glu653=)
c.615A>G (p.Glu205=)
c.3974A>G
c.5016A>G (p.Glu1672=)
c.4470A>G (p.Glu1490=)
c.4307-4178A>G (n.4307-4178A>G)
n.334A>G
n.253-4178A>G
n.40-4178A>G
c.703A>G
c.4743A>G (p.Glu1581=)
c.4034-4178A>G (n.4034-4178A>G)
c.3378A>G (p.Glu1126=)
c.5292A>G (p.Glu1764=)
c.3488-4178A>G (n.3488-4178A>G)
c.5019A>G (p.Glu1673=)
c.4473A>G (p.Glu1491=)
c.4580-4178A>G (n.4580-4178A>G)
c.4200A>G (p.Glu1400=)
c.3761-4178A>G (n.3761-4178A>G)
c.3651A>G (p.Glu1217=)
c.5565A>G (p.Glu1855=)
c.5289A>G (p.Glu1763=)
9g.115046519T>GCA374630922TNCc.318-4178A>C
c.3215-4178A>C (n.3215-4178A>C)
c.3927A>C (p.Glu1309Asp)
c.1959A>C (p.Glu653Asp)
c.615A>C (p.Glu205Asp)
c.3974A>C
c.5016A>C (p.Glu1672Asp)
c.4470A>C (p.Glu1490Asp)
c.4307-4178A>C (n.4307-4178A>C)
n.334A>C
n.253-4178A>C
n.40-4178A>C
c.703A>C
c.4743A>C (p.Glu1581Asp)
c.4034-4178A>C (n.4034-4178A>C)
c.3378A>C (p.Glu1126Asp)
c.5292A>C (p.Glu1764Asp)
c.3488-4178A>C (n.3488-4178A>C)
c.5019A>C (p.Glu1673Asp)
c.4473A>C (p.Glu1491Asp)
c.4580-4178A>C (n.4580-4178A>C)
c.4200A>C (p.Glu1400Asp)
c.3761-4178A>C (n.3761-4178A>C)
c.3651A>C (p.Glu1217Asp)
c.5565A>C (p.Glu1855Asp)
c.5289A>C (p.Glu1763Asp)
9g.115046520T>ACA374630924TNCc.318-4179A>T
c.3215-4179A>T (n.3215-4179A>T)
c.3926A>T (p.Glu1309Val)
c.1958A>T (p.Glu653Val)
c.614A>T (p.Glu205Val)
c.3973A>T
c.5015A>T (p.Glu1672Val)
c.4469A>T (p.Glu1490Val)
c.4307-4179A>T (n.4307-4179A>T)
n.333A>T
n.253-4179A>T
n.40-4179A>T
c.702A>T
c.4742A>T (p.Glu1581Val)
c.4034-4179A>T (n.4034-4179A>T)
c.3377A>T (p.Glu1126Val)
c.5291A>T (p.Glu1764Val)
c.3488-4179A>T (n.3488-4179A>T)
c.5018A>T (p.Glu1673Val)
c.4472A>T (p.Glu1491Val)
c.4580-4179A>T (n.4580-4179A>T)
c.4199A>T (p.Glu1400Val)
c.3761-4179A>T (n.3761-4179A>T)
c.3650A>T (p.Glu1217Val)
c.5564A>T (p.Glu1855Val)
c.5288A>T (p.Glu1763Val)
9g.115046520T>CCA374630925TNCc.318-4179A>G
c.3215-4179A>G (n.3215-4179A>G)
c.3926A>G (p.Glu1309Gly)
c.1958A>G (p.Glu653Gly)
c.614A>G (p.Glu205Gly)
c.3973A>G
c.5015A>G (p.Glu1672Gly)
c.4469A>G (p.Glu1490Gly)
c.4307-4179A>G (n.4307-4179A>G)
n.333A>G
n.253-4179A>G
n.40-4179A>G
c.702A>G
c.4742A>G (p.Glu1581Gly)
c.4034-4179A>G (n.4034-4179A>G)
c.3377A>G (p.Glu1126Gly)
c.5291A>G (p.Glu1764Gly)
c.3488-4179A>G (n.3488-4179A>G)
c.5018A>G (p.Glu1673Gly)
c.4472A>G (p.Glu1491Gly)
c.4580-4179A>G (n.4580-4179A>G)
c.4199A>G (p.Glu1400Gly)
c.3761-4179A>G (n.3761-4179A>G)
c.3650A>G (p.Glu1217Gly)
c.5564A>G (p.Glu1855Gly)
c.5288A>G (p.Glu1763Gly)
9g.115046520T>GCA374630927TNCc.318-4179A>C
c.3215-4179A>C (n.3215-4179A>C)
c.3926A>C (p.Glu1309Ala)
c.1958A>C (p.Glu653Ala)
c.614A>C (p.Glu205Ala)
c.3973A>C
c.5015A>C (p.Glu1672Ala)
c.4469A>C (p.Glu1490Ala)
c.4307-4179A>C (n.4307-4179A>C)
n.333A>C
n.253-4179A>C
n.40-4179A>C
c.702A>C
c.4742A>C (p.Glu1581Ala)
c.4034-4179A>C (n.4034-4179A>C)
c.3377A>C (p.Glu1126Ala)
c.5291A>C (p.Glu1764Ala)
c.3488-4179A>C (n.3488-4179A>C)
c.5018A>C (p.Glu1673Ala)
c.4472A>C (p.Glu1491Ala)
c.4580-4179A>C (n.4580-4179A>C)
c.4199A>C (p.Glu1400Ala)
c.3761-4179A>C (n.3761-4179A>C)
c.3650A>C (p.Glu1217Ala)
c.5564A>C (p.Glu1855Ala)
c.5288A>C (p.Glu1763Ala)
9g.115046521delCA2691393497TNCc.318-4180del
c.3215-4180del (n.3215-4180del)
c.3925del (p.Glu1309AsnfsTer6)
c.1957del (p.Glu653AsnfsTer6)
c.613del (p.Glu205AsnfsTer6)
c.3972del
c.5014del (p.Glu1672AsnfsTer6)
c.4468del (p.Glu1490AsnfsTer6)
c.4307-4180del (n.4307-4180del)
n.332del
n.253-4180del
n.40-4180del
c.701del
c.4741del (p.Glu1581AsnfsTer6)
c.4034-4180del (n.4034-4180del)
c.3376del (p.Glu1126AsnfsTer6)
c.5290del (p.Glu1764AsnfsTer6)
c.3488-4180del (n.3488-4180del)
c.5017del (p.Glu1673AsnfsTer6)
c.4471del (p.Glu1491AsnfsTer6)
c.4580-4180del (n.4580-4180del)
c.4198del (p.Glu1400AsnfsTer6)
c.3761-4180del (n.3761-4180del)
c.3649del (p.Glu1217AsnfsTer6)
c.5563del (p.Glu1855AsnfsTer6)
c.5287del (p.Glu1763AsnfsTer6)
 gnomAD v4
9g.115046521C>ACA374630929TNCc.318-4180G>T
c.3215-4180G>T (n.3215-4180G>T)
c.3925G>T (p.Glu1309Ter)
c.1957G>T (p.Glu653Ter)
c.613G>T (p.Glu205Ter)
c.3972G>T
c.5014G>T (p.Glu1672Ter)
c.4468G>T (p.Glu1490Ter)
c.4307-4180G>T (n.4307-4180G>T)
n.332G>T
n.253-4180G>T
n.40-4180G>T
c.701G>T
c.4741G>T (p.Glu1581Ter)
c.4034-4180G>T (n.4034-4180G>T)
c.3376G>T (p.Glu1126Ter)
c.5290G>T (p.Glu1764Ter)
c.3488-4180G>T (n.3488-4180G>T)
c.5017G>T (p.Glu1673Ter)
c.4471G>T (p.Glu1491Ter)
c.4580-4180G>T (n.4580-4180G>T)
c.4198G>T (p.Glu1400Ter)
c.3761-4180G>T (n.3761-4180G>T)
c.3649G>T (p.Glu1217Ter)
c.5563G>T (p.Glu1855Ter)
c.5287G>T (p.Glu1763Ter)
 gnomAD v4
9g.115046521C=CA1874118900TNCc.318-4180G=
c.3215-4180G= (n.3215-4180G=)
c.3925G= (p.Glu1309=)
c.1957G= (p.Glu653=)
c.613G= (p.Glu205=)
c.3972G=
c.5014G= (p.Glu1672=)
c.4468G= (p.Glu1490=)
c.4307-4180G= (n.4307-4180G=)
n.332G=
n.253-4180G=
n.40-4180G=
c.701G=
c.4741G= (p.Glu1581=)
c.4034-4180G= (n.4034-4180G=)
c.3376G= (p.Glu1126=)
c.5290G= (p.Glu1764=)
c.3488-4180G= (n.3488-4180G=)
c.5017G= (p.Glu1673=)
c.4471G= (p.Glu1491=)
c.4580-4180G= (n.4580-4180G=)
c.4198G= (p.Glu1400=)
c.3761-4180G= (n.3761-4180G=)
c.3649G= (p.Glu1217=)
c.5563G= (p.Glu1855=)
c.5287G= (p.Glu1763=)
9g.115046521C>GCA374630931TNCc.318-4180G>C
c.3215-4180G>C (n.3215-4180G>C)
c.3925G>C (p.Glu1309Gln)
c.1957G>C (p.Glu653Gln)
c.613G>C (p.Glu205Gln)
c.3972G>C
c.5014G>C (p.Glu1672Gln)
c.4468G>C (p.Glu1490Gln)
c.4307-4180G>C (n.4307-4180G>C)
n.332G>C
n.253-4180G>C
n.40-4180G>C
c.701G>C
c.4741G>C (p.Glu1581Gln)
c.4034-4180G>C (n.4034-4180G>C)
c.3376G>C (p.Glu1126Gln)
c.5290G>C (p.Glu1764Gln)
c.3488-4180G>C (n.3488-4180G>C)
c.5017G>C (p.Glu1673Gln)
c.4471G>C (p.Glu1491Gln)
c.4580-4180G>C (n.4580-4180G>C)
c.4198G>C (p.Glu1400Gln)
c.3761-4180G>C (n.3761-4180G>C)
c.3649G>C (p.Glu1217Gln)
c.5563G>C (p.Glu1855Gln)
c.5287G>C (p.Glu1763Gln)
9g.115046521C>TCA374630930TNCc.318-4180G>A
c.3215-4180G>A (n.3215-4180G>A)
c.3925G>A (p.Glu1309Lys)
c.1957G>A (p.Glu653Lys)
c.613G>A (p.Glu205Lys)
c.3972G>A
c.5014G>A (p.Glu1672Lys)
c.4468G>A (p.Glu1490Lys)
c.4307-4180G>A (n.4307-4180G>A)
n.332G>A
n.253-4180G>A
n.40-4180G>A
c.701G>A
c.4741G>A (p.Glu1581Lys)
c.4034-4180G>A (n.4034-4180G>A)
c.3376G>A (p.Glu1126Lys)
c.5290G>A (p.Glu1764Lys)
c.3488-4180G>A (n.3488-4180G>A)
c.5017G>A (p.Glu1673Lys)
c.4471G>A (p.Glu1491Lys)
c.4580-4180G>A (n.4580-4180G>A)
c.4198G>A (p.Glu1400Lys)
c.3761-4180G>A (n.3761-4180G>A)
c.3649G>A (p.Glu1217Lys)
c.5563G>A (p.Glu1855Lys)
c.5287G>A (p.Glu1763Lys)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
9g.115046522G>ACA466912437TNCc.318-4181C>T
c.3215-4181C>T (n.3215-4181C>T)
c.3924C>T (p.Pro1308=)
c.1956C>T (p.Pro652=)
c.612C>T (p.Pro204=)
c.3971C>T
c.5013C>T (p.Pro1671=)
c.4467C>T (p.Pro1489=)
c.4307-4181C>T (n.4307-4181C>T)
n.331C>T
n.253-4181C>T
n.40-4181C>T
c.700C>T
c.4740C>T (p.Pro1580=)
c.4034-4181C>T (n.4034-4181C>T)
c.3375C>T (p.Pro1125=)
c.5289C>T (p.Pro1763=)
c.3488-4181C>T (n.3488-4181C>T)
c.5016C>T (p.Pro1672=)
c.4470C>T (p.Pro1490=)
c.4580-4181C>T (n.4580-4181C>T)
c.4197C>T (p.Pro1399=)
c.3761-4181C>T (n.3761-4181C>T)
c.3648C>T (p.Pro1216=)
c.5562C>T (p.Pro1854=)
c.5286C>T (p.Pro1762=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
9g.115046522G>CCA466912438TNCc.318-4181C>G
c.3215-4181C>G (n.3215-4181C>G)
c.3924C>G (p.Pro1308=)
c.1956C>G (p.Pro652=)
c.612C>G (p.Pro204=)
c.3971C>G
c.5013C>G (p.Pro1671=)
c.4467C>G (p.Pro1489=)
c.4307-4181C>G (n.4307-4181C>G)
n.331C>G
n.253-4181C>G
n.40-4181C>G
c.700C>G
c.4740C>G (p.Pro1580=)
c.4034-4181C>G (n.4034-4181C>G)
c.3375C>G (p.Pro1125=)
c.5289C>G (p.Pro1763=)
c.3488-4181C>G (n.3488-4181C>G)
c.5016C>G (p.Pro1672=)
c.4470C>G (p.Pro1490=)
c.4580-4181C>G (n.4580-4181C>G)
c.4197C>G (p.Pro1399=)
c.3761-4181C>G (n.3761-4181C>G)
c.3648C>G (p.Pro1216=)
c.5562C>G (p.Pro1854=)
c.5286C>G (p.Pro1762=)
 gnomAD v4
9g.115046522G=CA1874118901TNCc.318-4181C=
c.3215-4181C= (n.3215-4181C=)
c.3924C= (p.Pro1308=)
c.1956C= (p.Pro652=)
c.612C= (p.Pro204=)
c.3971C=
c.5013C= (p.Pro1671=)
c.4467C= (p.Pro1489=)
c.4307-4181C= (n.4307-4181C=)
n.331C=
n.253-4181C=
n.40-4181C=
c.700C=
c.4740C= (p.Pro1580=)
c.4034-4181C= (n.4034-4181C=)
c.3375C= (p.Pro1125=)
c.5289C= (p.Pro1763=)
c.3488-4181C= (n.3488-4181C=)
c.5016C= (p.Pro1672=)
c.4470C= (p.Pro1490=)
c.4580-4181C= (n.4580-4181C=)
c.4197C= (p.Pro1399=)
c.3761-4181C= (n.3761-4181C=)
c.3648C= (p.Pro1216=)
c.5562C= (p.Pro1854=)
c.5286C= (p.Pro1762=)
9g.115046522G>TCA5207772TNCc.318-4181C>A
c.3215-4181C>A (n.3215-4181C>A)
c.3924C>A (p.Pro1308=)
c.1956C>A (p.Pro652=)
c.612C>A (p.Pro204=)
c.3971C>A
c.5013C>A (p.Pro1671=)
c.4467C>A (p.Pro1489=)
c.4307-4181C>A (n.4307-4181C>A)
n.331C>A
n.253-4181C>A
n.40-4181C>A
c.700C>A
c.4740C>A (p.Pro1580=)
c.4034-4181C>A (n.4034-4181C>A)
c.3375C>A (p.Pro1125=)
c.5289C>A (p.Pro1763=)
c.3488-4181C>A (n.3488-4181C>A)
c.5016C>A (p.Pro1672=)
c.4470C>A (p.Pro1490=)
c.4580-4181C>A (n.4580-4181C>A)
c.4197C>A (p.Pro1399=)
c.3761-4181C>A (n.3761-4181C>A)
c.3648C>A (p.Pro1216=)
c.5562C>A (p.Pro1854=)
c.5286C>A (p.Pro1762=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.115046526dupCA658773192TNCc.318-4181dup
c.3215-4181dup (n.3215-4181dup)
c.3924dup (p.Glu1309ArgfsTer14)
c.1956dup (p.Glu653ArgfsTer14)
c.612dup (p.Glu205ArgfsTer14)
c.3971dup
c.5013dup (p.Glu1672ArgfsTer14)
c.4467dup (p.Glu1490ArgfsTer14)
c.4307-4181dup (n.4307-4181dup)
n.331dup
n.253-4181dup
n.40-4181dup
c.700dup
c.4740dup (p.Glu1581ArgfsTer14)
c.4034-4181dup (n.4034-4181dup)
c.3375dup (p.Glu1126ArgfsTer14)
c.5289dup (p.Glu1764ArgfsTer14)
c.3488-4181dup (n.3488-4181dup)
c.5016dup (p.Glu1673ArgfsTer14)
c.4470dup (p.Glu1491ArgfsTer14)
c.4580-4181dup (n.4580-4181dup)
c.4197dup (p.Glu1400ArgfsTer14)
c.3761-4181dup (n.3761-4181dup)
c.3648dup (p.Glu1217ArgfsTer14)
c.5562dup (p.Glu1855ArgfsTer14)
c.5286dup (p.Glu1763ArgfsTer14)
9g.115046523G>ACA374630934TNCc.318-4182C>T
c.3215-4182C>T (n.3215-4182C>T)
c.3923C>T (p.Pro1308Leu)
c.1955C>T (p.Pro652Leu)
c.611C>T (p.Pro204Leu)
c.3970C>T
c.5012C>T (p.Pro1671Leu)
c.4466C>T (p.Pro1489Leu)
c.4307-4182C>T (n.4307-4182C>T)
n.330C>T
n.253-4182C>T
n.40-4182C>T
c.699C>T
c.4739C>T (p.Pro1580Leu)
c.4034-4182C>T (n.4034-4182C>T)
c.3374C>T (p.Pro1125Leu)
c.5288C>T (p.Pro1763Leu)
c.3488-4182C>T (n.3488-4182C>T)
c.5015C>T (p.Pro1672Leu)
c.4469C>T (p.Pro1490Leu)
c.4580-4182C>T (n.4580-4182C>T)
c.4196C>T (p.Pro1399Leu)
c.3761-4182C>T (n.3761-4182C>T)
c.3647C>T (p.Pro1216Leu)
c.5561C>T (p.Pro1854Leu)
c.5285C>T (p.Pro1762Leu)
9g.115046523G>CCA374630935TNCc.318-4182C>G
c.3215-4182C>G (n.3215-4182C>G)
c.3923C>G (p.Pro1308Arg)
c.1955C>G (p.Pro652Arg)
c.611C>G (p.Pro204Arg)
c.3970C>G
c.5012C>G (p.Pro1671Arg)
c.4466C>G (p.Pro1489Arg)
c.4307-4182C>G (n.4307-4182C>G)
n.330C>G
n.253-4182C>G
n.40-4182C>G
c.699C>G
c.4739C>G (p.Pro1580Arg)
c.4034-4182C>G (n.4034-4182C>G)
c.3374C>G (p.Pro1125Arg)
c.5288C>G (p.Pro1763Arg)
c.3488-4182C>G (n.3488-4182C>G)
c.5015C>G (p.Pro1672Arg)
c.4469C>G (p.Pro1490Arg)
c.4580-4182C>G (n.4580-4182C>G)
c.4196C>G (p.Pro1399Arg)
c.3761-4182C>G (n.3761-4182C>G)
c.3647C>G (p.Pro1216Arg)
c.5561C>G (p.Pro1854Arg)
c.5285C>G (p.Pro1762Arg)
9g.115046523G>TCA374630937TNCc.318-4182C>A
c.3215-4182C>A (n.3215-4182C>A)
c.3923C>A (p.Pro1308His)
c.1955C>A (p.Pro652His)
c.611C>A (p.Pro204His)
c.3970C>A
c.5012C>A (p.Pro1671His)
c.4466C>A (p.Pro1489His)
c.4307-4182C>A (n.4307-4182C>A)
n.330C>A
n.253-4182C>A
n.40-4182C>A
c.699C>A
c.4739C>A (p.Pro1580His)
c.4034-4182C>A (n.4034-4182C>A)
c.3374C>A (p.Pro1125His)
c.5288C>A (p.Pro1763His)
c.3488-4182C>A (n.3488-4182C>A)
c.5015C>A (p.Pro1672His)
c.4469C>A (p.Pro1490His)
c.4580-4182C>A (n.4580-4182C>A)
c.4196C>A (p.Pro1399His)
c.3761-4182C>A (n.3761-4182C>A)
c.3647C>A (p.Pro1216His)
c.5561C>A (p.Pro1854His)
c.5285C>A (p.Pro1762His)
9g.115046524G>ACA374630938TNCc.318-4183C>T
c.3215-4183C>T (n.3215-4183C>T)
c.3922C>T (p.Pro1308Ser)
c.1954C>T (p.Pro652Ser)
c.610C>T (p.Pro204Ser)
c.3969C>T
c.5011C>T (p.Pro1671Ser)
c.4465C>T (p.Pro1489Ser)
c.4307-4183C>T (n.4307-4183C>T)
n.329C>T
n.253-4183C>T
n.40-4183C>T
c.698C>T
c.4738C>T (p.Pro1580Ser)
c.4034-4183C>T (n.4034-4183C>T)
c.3373C>T (p.Pro1125Ser)
c.5287C>T (p.Pro1763Ser)
c.3488-4183C>T (n.3488-4183C>T)
c.5014C>T (p.Pro1672Ser)
c.4468C>T (p.Pro1490Ser)
c.4580-4183C>T (n.4580-4183C>T)
c.4195C>T (p.Pro1399Ser)
c.3761-4183C>T (n.3761-4183C>T)
c.3646C>T (p.Pro1216Ser)
c.5560C>T (p.Pro1854Ser)
c.5284C>T (p.Pro1762Ser)
 gnomAD v4
9g.115046524G>CCA374630942TNCc.318-4183C>G
c.3215-4183C>G (n.3215-4183C>G)
c.3922C>G (p.Pro1308Ala)
c.1954C>G (p.Pro652Ala)
c.610C>G (p.Pro204Ala)
c.3969C>G
c.5011C>G (p.Pro1671Ala)
c.4465C>G (p.Pro1489Ala)
c.4307-4183C>G (n.4307-4183C>G)
n.329C>G
n.253-4183C>G
n.40-4183C>G
c.698C>G
c.4738C>G (p.Pro1580Ala)
c.4034-4183C>G (n.4034-4183C>G)
c.3373C>G (p.Pro1125Ala)
c.5287C>G (p.Pro1763Ala)
c.3488-4183C>G (n.3488-4183C>G)
c.5014C>G (p.Pro1672Ala)
c.4468C>G (p.Pro1490Ala)
c.4580-4183C>G (n.4580-4183C>G)
c.4195C>G (p.Pro1399Ala)
c.3761-4183C>G (n.3761-4183C>G)
c.3646C>G (p.Pro1216Ala)
c.5560C>G (p.Pro1854Ala)
c.5284C>G (p.Pro1762Ala)
9g.115046524G>TCA374630940TNCc.318-4183C>A
c.3215-4183C>A (n.3215-4183C>A)
c.3922C>A (p.Pro1308Thr)
c.1954C>A (p.Pro652Thr)
c.610C>A (p.Pro204Thr)
c.3969C>A
c.5011C>A (p.Pro1671Thr)
c.4465C>A (p.Pro1489Thr)
c.4307-4183C>A (n.4307-4183C>A)
n.329C>A
n.253-4183C>A
n.40-4183C>A
c.698C>A
c.4738C>A (p.Pro1580Thr)
c.4034-4183C>A (n.4034-4183C>A)
c.3373C>A (p.Pro1125Thr)
c.5287C>A (p.Pro1763Thr)
c.3488-4183C>A (n.3488-4183C>A)
c.5014C>A (p.Pro1672Thr)
c.4468C>A (p.Pro1490Thr)
c.4580-4183C>A (n.4580-4183C>A)
c.4195C>A (p.Pro1399Thr)
c.3761-4183C>A (n.3761-4183C>A)
c.3646C>A (p.Pro1216Thr)
c.5560C>A (p.Pro1854Thr)
c.5284C>A (p.Pro1762Thr)
9g.115046525G>ACA466912440TNCc.318-4184C>T
c.3215-4184C>T (n.3215-4184C>T)
c.3921C>T (p.Ala1307=)
c.1953C>T (p.Ala651=)
c.609C>T (p.Ala203=)
c.3968C>T
c.5010C>T (p.Ala1670=)
c.4464C>T (p.Ala1488=)
c.4307-4184C>T (n.4307-4184C>T)
n.328C>T
n.253-4184C>T
n.40-4184C>T
c.697C>T
c.4737C>T (p.Ala1579=)
c.4034-4184C>T (n.4034-4184C>T)
c.3372C>T (p.Ala1124=)
c.5286C>T (p.Ala1762=)
c.3488-4184C>T (n.3488-4184C>T)
c.5013C>T (p.Ala1671=)
c.4467C>T (p.Ala1489=)
c.4580-4184C>T (n.4580-4184C>T)
c.4194C>T (p.Ala1398=)
c.3761-4184C>T (n.3761-4184C>T)
c.3645C>T (p.Ala1215=)
c.5559C>T (p.Ala1853=)
c.5283C>T (p.Ala1761=)
 gnomAD v4
9g.115046525G>CCA466912441TNCc.318-4184C>G
c.3215-4184C>G (n.3215-4184C>G)
c.3921C>G (p.Ala1307=)
c.1953C>G (p.Ala651=)
c.609C>G (p.Ala203=)
c.3968C>G
c.5010C>G (p.Ala1670=)
c.4464C>G (p.Ala1488=)
c.4307-4184C>G (n.4307-4184C>G)
n.328C>G
n.253-4184C>G
n.40-4184C>G
c.697C>G
c.4737C>G (p.Ala1579=)
c.4034-4184C>G (n.4034-4184C>G)
c.3372C>G (p.Ala1124=)
c.5286C>G (p.Ala1762=)
c.3488-4184C>G (n.3488-4184C>G)
c.5013C>G (p.Ala1671=)
c.4467C>G (p.Ala1489=)
c.4580-4184C>G (n.4580-4184C>G)
c.4194C>G (p.Ala1398=)
c.3761-4184C>G (n.3761-4184C>G)
c.3645C>G (p.Ala1215=)
c.5559C>G (p.Ala1853=)
c.5283C>G (p.Ala1761=)
9g.115046525G>TCA466912442TNCc.318-4184C>A
c.3215-4184C>A (n.3215-4184C>A)
c.3921C>A (p.Ala1307=)
c.1953C>A (p.Ala651=)
c.609C>A (p.Ala203=)
c.3968C>A
c.5010C>A (p.Ala1670=)
c.4464C>A (p.Ala1488=)
c.4307-4184C>A (n.4307-4184C>A)
n.328C>A
n.253-4184C>A
n.40-4184C>A
c.697C>A
c.4737C>A (p.Ala1579=)
c.4034-4184C>A (n.4034-4184C>A)
c.3372C>A (p.Ala1124=)
c.5286C>A (p.Ala1762=)
c.3488-4184C>A (n.3488-4184C>A)
c.5013C>A (p.Ala1671=)
c.4467C>A (p.Ala1489=)
c.4580-4184C>A (n.4580-4184C>A)
c.4194C>A (p.Ala1398=)
c.3761-4184C>A (n.3761-4184C>A)
c.3645C>A (p.Ala1215=)
c.5559C>A (p.Ala1853=)
c.5283C>A (p.Ala1761=)
9g.115046526G>ACA374630944TNCc.318-4185C>T
c.3215-4185C>T (n.3215-4185C>T)
c.3920C>T (p.Ala1307Val)
c.1952C>T (p.Ala651Val)
c.608C>T (p.Ala203Val)
c.3967C>T
c.5009C>T (p.Ala1670Val)
c.4463C>T (p.Ala1488Val)
c.4307-4185C>T (n.4307-4185C>T)
n.327C>T
n.253-4185C>T
n.40-4185C>T
c.696C>T
c.4736C>T (p.Ala1579Val)
c.4034-4185C>T (n.4034-4185C>T)
c.3371C>T (p.Ala1124Val)
c.5285C>T (p.Ala1762Val)
c.3488-4185C>T (n.3488-4185C>T)
c.5012C>T (p.Ala1671Val)
c.4466C>T (p.Ala1489Val)
c.4580-4185C>T (n.4580-4185C>T)
c.4193C>T (p.Ala1398Val)
c.3761-4185C>T (n.3761-4185C>T)
c.3644C>T (p.Ala1215Val)
c.5558C>T (p.Ala1853Val)
c.5282C>T (p.Ala1761Val)
 dbSNP gnomAD v4
9g.115046526G>CCA374630945TNCc.318-4185C>G
c.3215-4185C>G (n.3215-4185C>G)
c.3920C>G (p.Ala1307Gly)
c.1952C>G (p.Ala651Gly)
c.608C>G (p.Ala203Gly)
c.3967C>G
c.5009C>G (p.Ala1670Gly)
c.4463C>G (p.Ala1488Gly)
c.4307-4185C>G (n.4307-4185C>G)
n.327C>G
n.253-4185C>G
n.40-4185C>G
c.696C>G
c.4736C>G (p.Ala1579Gly)
c.4034-4185C>G (n.4034-4185C>G)
c.3371C>G (p.Ala1124Gly)
c.5285C>G (p.Ala1762Gly)
c.3488-4185C>G (n.3488-4185C>G)
c.5012C>G (p.Ala1671Gly)
c.4466C>G (p.Ala1489Gly)
c.4580-4185C>G (n.4580-4185C>G)
c.4193C>G (p.Ala1398Gly)
c.3761-4185C>G (n.3761-4185C>G)
c.3644C>G (p.Ala1215Gly)
c.5558C>G (p.Ala1853Gly)
c.5282C>G (p.Ala1761Gly)
9g.115046526G=CA1874118902TNCc.318-4185C=
c.3215-4185C= (n.3215-4185C=)
c.3920C= (p.Ala1307=)
c.1952C= (p.Ala651=)
c.608C= (p.Ala203=)
c.3967C=
c.5009C= (p.Ala1670=)
c.4463C= (p.Ala1488=)
c.4307-4185C= (n.4307-4185C=)
n.327C=
n.253-4185C=
n.40-4185C=
c.696C=
c.4736C= (p.Ala1579=)
c.4034-4185C= (n.4034-4185C=)
c.3371C= (p.Ala1124=)
c.5285C= (p.Ala1762=)
c.3488-4185C= (n.3488-4185C=)
c.5012C= (p.Ala1671=)
c.4466C= (p.Ala1489=)
c.4580-4185C= (n.4580-4185C=)
c.4193C= (p.Ala1398=)
c.3761-4185C= (n.3761-4185C=)
c.3644C= (p.Ala1215=)
c.5558C= (p.Ala1853=)
c.5282C= (p.Ala1761=)
9g.115046526G>TCA374630946TNCc.318-4185C>A
c.3215-4185C>A (n.3215-4185C>A)
c.3920C>A (p.Ala1307Asp)
c.1952C>A (p.Ala651Asp)
c.608C>A (p.Ala203Asp)
c.3967C>A
c.5009C>A (p.Ala1670Asp)
c.4463C>A (p.Ala1488Asp)
c.4307-4185C>A (n.4307-4185C>A)
n.327C>A
n.253-4185C>A
n.40-4185C>A
c.696C>A
c.4736C>A (p.Ala1579Asp)
c.4034-4185C>A (n.4034-4185C>A)
c.3371C>A (p.Ala1124Asp)
c.5285C>A (p.Ala1762Asp)
c.3488-4185C>A (n.3488-4185C>A)
c.5012C>A (p.Ala1671Asp)
c.4466C>A (p.Ala1489Asp)
c.4580-4185C>A (n.4580-4185C>A)
c.4193C>A (p.Ala1398Asp)
c.3761-4185C>A (n.3761-4185C>A)
c.3644C>A (p.Ala1215Asp)
c.5558C>A (p.Ala1853Asp)
c.5282C>A (p.Ala1761Asp)
9g.115046527C>ACA374630948TNCc.318-4186G>T
c.3215-4186G>T (n.3215-4186G>T)
c.3919G>T (p.Ala1307Ser)
c.1951G>T (p.Ala651Ser)
c.607G>T (p.Ala203Ser)
c.3966G>T
c.5008G>T (p.Ala1670Ser)
c.4462G>T (p.Ala1488Ser)
c.4307-4186G>T (n.4307-4186G>T)
n.326G>T
n.253-4186G>T
n.40-4186G>T
c.695G>T
c.4735G>T (p.Ala1579Ser)
c.4034-4186G>T (n.4034-4186G>T)
c.3370G>T (p.Ala1124Ser)
c.5284G>T (p.Ala1762Ser)
c.3488-4186G>T (n.3488-4186G>T)
c.5011G>T (p.Ala1671Ser)
c.4465G>T (p.Ala1489Ser)
c.4580-4186G>T (n.4580-4186G>T)
c.4192G>T (p.Ala1398Ser)
c.3761-4186G>T (n.3761-4186G>T)
c.3643G>T (p.Ala1215Ser)
c.5557G>T (p.Ala1853Ser)
c.5281G>T (p.Ala1761Ser)
9g.115046527C=CA1874118903TNCc.318-4186G=
c.3215-4186G= (n.3215-4186G=)
c.3919G= (p.Ala1307=)
c.1951G= (p.Ala651=)
c.607G= (p.Ala203=)
c.3966G=
c.5008G= (p.Ala1670=)
c.4462G= (p.Ala1488=)
c.4307-4186G= (n.4307-4186G=)
n.326G=
n.253-4186G=
n.40-4186G=
c.695G=
c.4735G= (p.Ala1579=)
c.4034-4186G= (n.4034-4186G=)
c.3370G= (p.Ala1124=)
c.5284G= (p.Ala1762=)
c.3488-4186G= (n.3488-4186G=)
c.5011G= (p.Ala1671=)
c.4465G= (p.Ala1489=)
c.4580-4186G= (n.4580-4186G=)
c.4192G= (p.Ala1398=)
c.3761-4186G= (n.3761-4186G=)
c.3643G= (p.Ala1215=)
c.5557G= (p.Ala1853=)
c.5281G= (p.Ala1761=)
9g.115046527C>GCA374630950TNCc.318-4186G>C
c.3215-4186G>C (n.3215-4186G>C)
c.3919G>C (p.Ala1307Pro)
c.1951G>C (p.Ala651Pro)
c.607G>C (p.Ala203Pro)
c.3966G>C
c.5008G>C (p.Ala1670Pro)
c.4462G>C (p.Ala1488Pro)
c.4307-4186G>C (n.4307-4186G>C)
n.326G>C
n.253-4186G>C
n.40-4186G>C
c.695G>C
c.4735G>C (p.Ala1579Pro)
c.4034-4186G>C (n.4034-4186G>C)
c.3370G>C (p.Ala1124Pro)
c.5284G>C (p.Ala1762Pro)
c.3488-4186G>C (n.3488-4186G>C)
c.5011G>C (p.Ala1671Pro)
c.4465G>C (p.Ala1489Pro)
c.4580-4186G>C (n.4580-4186G>C)
c.4192G>C (p.Ala1398Pro)
c.3761-4186G>C (n.3761-4186G>C)
c.3643G>C (p.Ala1215Pro)
c.5557G>C (p.Ala1853Pro)
c.5281G>C (p.Ala1761Pro)
9g.115046527C>TCA5207773TNCc.318-4186G>A
c.3215-4186G>A (n.3215-4186G>A)
c.3919G>A (p.Ala1307Thr)
c.1951G>A (p.Ala651Thr)
c.607G>A (p.Ala203Thr)
c.3966G>A
c.5008G>A (p.Ala1670Thr)
c.4462G>A (p.Ala1488Thr)
c.4307-4186G>A (n.4307-4186G>A)
n.326G>A
n.253-4186G>A
n.40-4186G>A
c.695G>A
c.4735G>A (p.Ala1579Thr)
c.4034-4186G>A (n.4034-4186G>A)
c.3370G>A (p.Ala1124Thr)
c.5284G>A (p.Ala1762Thr)
c.3488-4186G>A (n.3488-4186G>A)
c.5011G>A (p.Ala1671Thr)
c.4465G>A (p.Ala1489Thr)
c.4580-4186G>A (n.4580-4186G>A)
c.4192G>A (p.Ala1398Thr)
c.3761-4186G>A (n.3761-4186G>A)
c.3643G>A (p.Ala1215Thr)
c.5557G>A (p.Ala1853Thr)
c.5281G>A (p.Ala1761Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115046528A>CCA466912444TNCc.318-4187T>G
c.3215-4187T>G (n.3215-4187T>G)
c.3918T>G (p.Leu1306=)
c.1950T>G (p.Leu650=)
c.606T>G (p.Leu202=)
c.3965T>G
c.5007T>G (p.Leu1669=)
c.4461T>G (p.Leu1487=)
c.4307-4187T>G (n.4307-4187T>G)
n.325T>G
n.253-4187T>G
n.40-4187T>G
c.694T>G
c.4734T>G (p.Leu1578=)
c.4034-4187T>G (n.4034-4187T>G)
c.3369T>G (p.Leu1123=)
c.5283T>G (p.Leu1761=)
c.3488-4187T>G (n.3488-4187T>G)
c.5010T>G (p.Leu1670=)
c.4464T>G (p.Leu1488=)
c.4580-4187T>G (n.4580-4187T>G)
c.4191T>G (p.Leu1397=)
c.3761-4187T>G (n.3761-4187T>G)
c.3642T>G (p.Leu1214=)
c.5556T>G (p.Leu1852=)
c.5280T>G (p.Leu1760=)
9g.115046528A>GCA466912445TNCc.318-4187T>C
c.3215-4187T>C (n.3215-4187T>C)
c.3918T>C (p.Leu1306=)
c.1950T>C (p.Leu650=)
c.606T>C (p.Leu202=)
c.3965T>C
c.5007T>C (p.Leu1669=)
c.4461T>C (p.Leu1487=)
c.4307-4187T>C (n.4307-4187T>C)
n.325T>C
n.253-4187T>C
n.40-4187T>C
c.694T>C
c.4734T>C (p.Leu1578=)
c.4034-4187T>C (n.4034-4187T>C)
c.3369T>C (p.Leu1123=)
c.5283T>C (p.Leu1761=)
c.3488-4187T>C (n.3488-4187T>C)
c.5010T>C (p.Leu1670=)
c.4464T>C (p.Leu1488=)
c.4580-4187T>C (n.4580-4187T>C)
c.4191T>C (p.Leu1397=)
c.3761-4187T>C (n.3761-4187T>C)
c.3642T>C (p.Leu1214=)
c.5556T>C (p.Leu1852=)
c.5280T>C (p.Leu1760=)
9g.115046528A>TCA466912446TNCc.318-4187T>A
c.3215-4187T>A (n.3215-4187T>A)
c.3918T>A (p.Leu1306=)
c.1950T>A (p.Leu650=)
c.606T>A (p.Leu202=)
c.3965T>A
c.5007T>A (p.Leu1669=)
c.4461T>A (p.Leu1487=)
c.4307-4187T>A (n.4307-4187T>A)
n.325T>A
n.253-4187T>A
n.40-4187T>A
c.694T>A
c.4734T>A (p.Leu1578=)
c.4034-4187T>A (n.4034-4187T>A)
c.3369T>A (p.Leu1123=)
c.5283T>A (p.Leu1761=)
c.3488-4187T>A (n.3488-4187T>A)
c.5010T>A (p.Leu1670=)
c.4464T>A (p.Leu1488=)
c.4580-4187T>A (n.4580-4187T>A)
c.4191T>A (p.Leu1397=)
c.3761-4187T>A (n.3761-4187T>A)
c.3642T>A (p.Leu1214=)
c.5556T>A (p.Leu1852=)
c.5280T>A (p.Leu1760=)
9g.115046529A>CCA374630952TNCc.318-4188T>G
c.3215-4188T>G (n.3215-4188T>G)
c.3917T>G (p.Leu1306Arg)
c.1949T>G (p.Leu650Arg)
c.605T>G (p.Leu202Arg)
c.3964T>G
c.5006T>G (p.Leu1669Arg)
c.4460T>G (p.Leu1487Arg)
c.4307-4188T>G (n.4307-4188T>G)
n.324T>G
n.253-4188T>G
n.40-4188T>G
c.693T>G
c.4733T>G (p.Leu1578Arg)
c.4034-4188T>G (n.4034-4188T>G)
c.3368T>G (p.Leu1123Arg)
c.5282T>G (p.Leu1761Arg)
c.3488-4188T>G (n.3488-4188T>G)
c.5009T>G (p.Leu1670Arg)
c.4463T>G (p.Leu1488Arg)
c.4580-4188T>G (n.4580-4188T>G)
c.4190T>G (p.Leu1397Arg)
c.3761-4188T>G (n.3761-4188T>G)
c.3641T>G (p.Leu1214Arg)
c.5555T>G (p.Leu1852Arg)
c.5279T>G (p.Leu1760Arg)
9g.115046529A>GCA374630954TNCc.318-4188T>C
c.3215-4188T>C (n.3215-4188T>C)
c.3917T>C (p.Leu1306Pro)
c.1949T>C (p.Leu650Pro)
c.605T>C (p.Leu202Pro)
c.3964T>C
c.5006T>C (p.Leu1669Pro)
c.4460T>C (p.Leu1487Pro)
c.4307-4188T>C (n.4307-4188T>C)
n.324T>C
n.253-4188T>C
n.40-4188T>C
c.693T>C
c.4733T>C (p.Leu1578Pro)
c.4034-4188T>C (n.4034-4188T>C)
c.3368T>C (p.Leu1123Pro)
c.5282T>C (p.Leu1761Pro)
c.3488-4188T>C (n.3488-4188T>C)
c.5009T>C (p.Leu1670Pro)
c.4463T>C (p.Leu1488Pro)
c.4580-4188T>C (n.4580-4188T>C)
c.4190T>C (p.Leu1397Pro)
c.3761-4188T>C (n.3761-4188T>C)
c.3641T>C (p.Leu1214Pro)
c.5555T>C (p.Leu1852Pro)
c.5279T>C (p.Leu1760Pro)
9g.115046529A>TCA374630955TNCc.318-4188T>A
c.3215-4188T>A (n.3215-4188T>A)
c.3917T>A (p.Leu1306His)
c.1949T>A (p.Leu650His)
c.605T>A (p.Leu202His)
c.3964T>A
c.5006T>A (p.Leu1669His)
c.4460T>A (p.Leu1487His)
c.4307-4188T>A (n.4307-4188T>A)
n.324T>A
n.253-4188T>A
n.40-4188T>A
c.693T>A
c.4733T>A (p.Leu1578His)
c.4034-4188T>A (n.4034-4188T>A)
c.3368T>A (p.Leu1123His)
c.5282T>A (p.Leu1761His)
c.3488-4188T>A (n.3488-4188T>A)
c.5009T>A (p.Leu1670His)
c.4463T>A (p.Leu1488His)
c.4580-4188T>A (n.4580-4188T>A)
c.4190T>A (p.Leu1397His)
c.3761-4188T>A (n.3761-4188T>A)
c.3641T>A (p.Leu1214His)
c.5555T>A (p.Leu1852His)
c.5279T>A (p.Leu1760His)
9g.115046530G>ACA374630957TNCc.318-4189C>T
c.3215-4189C>T (n.3215-4189C>T)
c.3916C>T (p.Leu1306Phe)
c.1948C>T (p.Leu650Phe)
c.604C>T (p.Leu202Phe)
c.3963C>T
c.5005C>T (p.Leu1669Phe)
c.4459C>T (p.Leu1487Phe)
c.4307-4189C>T (n.4307-4189C>T)
n.323C>T
n.253-4189C>T
n.40-4189C>T
c.692C>T
c.4732C>T (p.Leu1578Phe)
c.4034-4189C>T (n.4034-4189C>T)
c.3367C>T (p.Leu1123Phe)
c.5281C>T (p.Leu1761Phe)
c.3488-4189C>T (n.3488-4189C>T)
c.5008C>T (p.Leu1670Phe)
c.4462C>T (p.Leu1488Phe)
c.4580-4189C>T (n.4580-4189C>T)
c.4189C>T (p.Leu1397Phe)
c.3761-4189C>T (n.3761-4189C>T)
c.3640C>T (p.Leu1214Phe)
c.5554C>T (p.Leu1852Phe)
c.5278C>T (p.Leu1760Phe)
9g.115046530G>CCA374630959TNCc.318-4189C>G
c.3215-4189C>G (n.3215-4189C>G)
c.3916C>G (p.Leu1306Val)
c.1948C>G (p.Leu650Val)
c.604C>G (p.Leu202Val)
c.3963C>G
c.5005C>G (p.Leu1669Val)
c.4459C>G (p.Leu1487Val)
c.4307-4189C>G (n.4307-4189C>G)
n.323C>G
n.253-4189C>G
n.40-4189C>G
c.692C>G
c.4732C>G (p.Leu1578Val)
c.4034-4189C>G (n.4034-4189C>G)
c.3367C>G (p.Leu1123Val)
c.5281C>G (p.Leu1761Val)
c.3488-4189C>G (n.3488-4189C>G)
c.5008C>G (p.Leu1670Val)
c.4462C>G (p.Leu1488Val)
c.4580-4189C>G (n.4580-4189C>G)
c.4189C>G (p.Leu1397Val)
c.3761-4189C>G (n.3761-4189C>G)
c.3640C>G (p.Leu1214Val)
c.5554C>G (p.Leu1852Val)
c.5278C>G (p.Leu1760Val)
9g.115046530G>TCA374630960TNCc.318-4189C>A
c.3215-4189C>A (n.3215-4189C>A)
c.3916C>A (p.Leu1306Ile)
c.1948C>A (p.Leu650Ile)
c.604C>A (p.Leu202Ile)
c.3963C>A
c.5005C>A (p.Leu1669Ile)
c.4459C>A (p.Leu1487Ile)
c.4307-4189C>A (n.4307-4189C>A)
n.323C>A
n.253-4189C>A
n.40-4189C>A
c.692C>A
c.4732C>A (p.Leu1578Ile)
c.4034-4189C>A (n.4034-4189C>A)
c.3367C>A (p.Leu1123Ile)
c.5281C>A (p.Leu1761Ile)
c.3488-4189C>A (n.3488-4189C>A)
c.5008C>A (p.Leu1670Ile)
c.4462C>A (p.Leu1488Ile)
c.4580-4189C>A (n.4580-4189C>A)
c.4189C>A (p.Leu1397Ile)
c.3761-4189C>A (n.3761-4189C>A)
c.3640C>A (p.Leu1214Ile)
c.5554C>A (p.Leu1852Ile)
c.5278C>A (p.Leu1760Ile)
9g.115046531T>ACA466912448TNCc.318-4190A>T
c.3215-4190A>T (n.3215-4190A>T)
c.3915A>T (p.Leu1305=)
c.1947A>T (p.Leu649=)
c.603A>T (p.Leu201=)
c.3962A>T
c.5004A>T (p.Leu1668=)
c.4458A>T (p.Leu1486=)
c.4307-4190A>T (n.4307-4190A>T)
n.322A>T
n.253-4190A>T
n.40-4190A>T
c.691A>T
c.4731A>T (p.Leu1577=)
c.4034-4190A>T (n.4034-4190A>T)
c.3366A>T (p.Leu1122=)
c.5280A>T (p.Leu1760=)
c.3488-4190A>T (n.3488-4190A>T)
c.5007A>T (p.Leu1669=)
c.4461A>T (p.Leu1487=)
c.4580-4190A>T (n.4580-4190A>T)
c.4188A>T (p.Leu1396=)
c.3761-4190A>T (n.3761-4190A>T)
c.3639A>T (p.Leu1213=)
c.5553A>T (p.Leu1851=)
c.5277A>T (p.Leu1759=)
9g.115046531T>CCA466912451TNCc.318-4190A>G
c.3215-4190A>G (n.3215-4190A>G)
c.3915A>G (p.Leu1305=)
c.1947A>G (p.Leu649=)
c.603A>G (p.Leu201=)
c.3962A>G
c.5004A>G (p.Leu1668=)
c.4458A>G (p.Leu1486=)
c.4307-4190A>G (n.4307-4190A>G)
n.322A>G
n.253-4190A>G
n.40-4190A>G
c.691A>G
c.4731A>G (p.Leu1577=)
c.4034-4190A>G (n.4034-4190A>G)
c.3366A>G (p.Leu1122=)
c.5280A>G (p.Leu1760=)
c.3488-4190A>G (n.3488-4190A>G)
c.5007A>G (p.Leu1669=)
c.4461A>G (p.Leu1487=)
c.4580-4190A>G (n.4580-4190A>G)
c.4188A>G (p.Leu1396=)
c.3761-4190A>G (n.3761-4190A>G)
c.3639A>G (p.Leu1213=)
c.5553A>G (p.Leu1851=)
c.5277A>G (p.Leu1759=)
9g.115046531T>GCA466912452TNCc.318-4190A>C
c.3215-4190A>C (n.3215-4190A>C)
c.3915A>C (p.Leu1305=)
c.1947A>C (p.Leu649=)
c.603A>C (p.Leu201=)
c.3962A>C
c.5004A>C (p.Leu1668=)
c.4458A>C (p.Leu1486=)
c.4307-4190A>C (n.4307-4190A>C)
n.322A>C
n.253-4190A>C
n.40-4190A>C
c.691A>C
c.4731A>C (p.Leu1577=)
c.4034-4190A>C (n.4034-4190A>C)
c.3366A>C (p.Leu1122=)
c.5280A>C (p.Leu1760=)
c.3488-4190A>C (n.3488-4190A>C)
c.5007A>C (p.Leu1669=)
c.4461A>C (p.Leu1487=)
c.4580-4190A>C (n.4580-4190A>C)
c.4188A>C (p.Leu1396=)
c.3761-4190A>C (n.3761-4190A>C)
c.3639A>C (p.Leu1213=)
c.5553A>C (p.Leu1851=)
c.5277A>C (p.Leu1759=)
9g.115046532A>CCA374630962TNCc.318-4191T>G
c.3215-4191T>G (n.3215-4191T>G)
c.3914T>G (p.Leu1305Arg)
c.1946T>G (p.Leu649Arg)
c.602T>G (p.Leu201Arg)
c.3961T>G
c.5003T>G (p.Leu1668Arg)
c.4457T>G (p.Leu1486Arg)
c.4307-4191T>G (n.4307-4191T>G)
n.321T>G
n.253-4191T>G
n.40-4191T>G
c.690T>G
c.4730T>G (p.Leu1577Arg)
c.4034-4191T>G (n.4034-4191T>G)
c.3365T>G (p.Leu1122Arg)
c.5279T>G (p.Leu1760Arg)
c.3488-4191T>G (n.3488-4191T>G)
c.5006T>G (p.Leu1669Arg)
c.4460T>G (p.Leu1487Arg)
c.4580-4191T>G (n.4580-4191T>G)
c.4187T>G (p.Leu1396Arg)
c.3761-4191T>G (n.3761-4191T>G)
c.3638T>G (p.Leu1213Arg)
c.5552T>G (p.Leu1851Arg)
c.5276T>G (p.Leu1759Arg)
9g.115046532A>GCA374630965TNCc.318-4191T>C
c.3215-4191T>C (n.3215-4191T>C)
c.3914T>C (p.Leu1305Pro)
c.1946T>C (p.Leu649Pro)
c.602T>C (p.Leu201Pro)
c.3961T>C
c.5003T>C (p.Leu1668Pro)
c.4457T>C (p.Leu1486Pro)
c.4307-4191T>C (n.4307-4191T>C)
n.321T>C
n.253-4191T>C
n.40-4191T>C
c.690T>C
c.4730T>C (p.Leu1577Pro)
c.4034-4191T>C (n.4034-4191T>C)
c.3365T>C (p.Leu1122Pro)
c.5279T>C (p.Leu1760Pro)
c.3488-4191T>C (n.3488-4191T>C)
c.5006T>C (p.Leu1669Pro)
c.4460T>C (p.Leu1487Pro)
c.4580-4191T>C (n.4580-4191T>C)
c.4187T>C (p.Leu1396Pro)
c.3761-4191T>C (n.3761-4191T>C)
c.3638T>C (p.Leu1213Pro)
c.5552T>C (p.Leu1851Pro)
c.5276T>C (p.Leu1759Pro)
9g.115046532A>TCA374630964TNCc.318-4191T>A
c.3215-4191T>A (n.3215-4191T>A)
c.3914T>A (p.Leu1305Gln)
c.1946T>A (p.Leu649Gln)
c.602T>A (p.Leu201Gln)
c.3961T>A
c.5003T>A (p.Leu1668Gln)
c.4457T>A (p.Leu1486Gln)
c.4307-4191T>A (n.4307-4191T>A)
n.321T>A
n.253-4191T>A
n.40-4191T>A
c.690T>A
c.4730T>A (p.Leu1577Gln)
c.4034-4191T>A (n.4034-4191T>A)
c.3365T>A (p.Leu1122Gln)
c.5279T>A (p.Leu1760Gln)
c.3488-4191T>A (n.3488-4191T>A)
c.5006T>A (p.Leu1669Gln)
c.4460T>A (p.Leu1487Gln)
c.4580-4191T>A (n.4580-4191T>A)
c.4187T>A (p.Leu1396Gln)
c.3761-4191T>A (n.3761-4191T>A)
c.3638T>A (p.Leu1213Gln)
c.5552T>A (p.Leu1851Gln)
c.5276T>A (p.Leu1759Gln)
9g.115046533G>ACA466912453TNCc.318-4192C>T
c.3215-4192C>T (n.3215-4192C>T)
c.3913C>T (p.Leu1305=)
c.1945C>T (p.Leu649=)
c.601C>T (p.Leu201=)
c.3960C>T
c.5002C>T (p.Leu1668=)
c.4456C>T (p.Leu1486=)
c.4307-4192C>T (n.4307-4192C>T)
n.320C>T
n.253-4192C>T
n.40-4192C>T
c.689C>T
c.4729C>T (p.Leu1577=)
c.4034-4192C>T (n.4034-4192C>T)
c.3364C>T (p.Leu1122=)
c.5278C>T (p.Leu1760=)
c.3488-4192C>T (n.3488-4192C>T)
c.5005C>T (p.Leu1669=)
c.4459C>T (p.Leu1487=)
c.4580-4192C>T (n.4580-4192C>T)
c.4186C>T (p.Leu1396=)
c.3761-4192C>T (n.3761-4192C>T)
c.3637C>T (p.Leu1213=)
c.5551C>T (p.Leu1851=)
c.5275C>T (p.Leu1759=)
9g.115046533G>CCA374630967TNCc.318-4192C>G
c.3215-4192C>G (n.3215-4192C>G)
c.3913C>G (p.Leu1305Val)
c.1945C>G (p.Leu649Val)
c.601C>G (p.Leu201Val)
c.3960C>G
c.5002C>G (p.Leu1668Val)
c.4456C>G (p.Leu1486Val)
c.4307-4192C>G (n.4307-4192C>G)
n.320C>G
n.253-4192C>G
n.40-4192C>G
c.689C>G
c.4729C>G (p.Leu1577Val)
c.4034-4192C>G (n.4034-4192C>G)
c.3364C>G (p.Leu1122Val)
c.5278C>G (p.Leu1760Val)
c.3488-4192C>G (n.3488-4192C>G)
c.5005C>G (p.Leu1669Val)
c.4459C>G (p.Leu1487Val)
c.4580-4192C>G (n.4580-4192C>G)
c.4186C>G (p.Leu1396Val)
c.3761-4192C>G (n.3761-4192C>G)
c.3637C>G (p.Leu1213Val)
c.5551C>G (p.Leu1851Val)
c.5275C>G (p.Leu1759Val)
 gnomAD v4
9g.115046533G>TCA374630969TNCc.318-4192C>A
c.3215-4192C>A (n.3215-4192C>A)
c.3913C>A (p.Leu1305Ile)
c.1945C>A (p.Leu649Ile)
c.601C>A (p.Leu201Ile)
c.3960C>A
c.5002C>A (p.Leu1668Ile)
c.4456C>A (p.Leu1486Ile)
c.4307-4192C>A (n.4307-4192C>A)
n.320C>A
n.253-4192C>A
n.40-4192C>A
c.689C>A
c.4729C>A (p.Leu1577Ile)
c.4034-4192C>A (n.4034-4192C>A)
c.3364C>A (p.Leu1122Ile)
c.5278C>A (p.Leu1760Ile)
c.3488-4192C>A (n.3488-4192C>A)
c.5005C>A (p.Leu1669Ile)
c.4459C>A (p.Leu1487Ile)
c.4580-4192C>A (n.4580-4192C>A)
c.4186C>A (p.Leu1396Ile)
c.3761-4192C>A (n.3761-4192C>A)
c.3637C>A (p.Leu1213Ile)
c.5551C>A (p.Leu1851Ile)
c.5275C>A (p.Leu1759Ile)
 COSMIC
9g.115046534G>ACA466912455TNCc.318-4193C>T
c.3215-4193C>T (n.3215-4193C>T)
c.3912C>T (p.Thr1304=)
c.1944C>T (p.Thr648=)
c.600C>T (p.Thr200=)
c.3959C>T
c.5001C>T (p.Thr1667=)
c.4455C>T (p.Thr1485=)
c.4307-4193C>T (n.4307-4193C>T)
n.319C>T
n.253-4193C>T
n.40-4193C>T
c.688C>T
c.4728C>T (p.Thr1576=)
c.4034-4193C>T (n.4034-4193C>T)
c.3363C>T (p.Thr1121=)
c.5277C>T (p.Thr1759=)
c.3488-4193C>T (n.3488-4193C>T)
c.5004C>T (p.Thr1668=)
c.4458C>T (p.Thr1486=)
c.4580-4193C>T (n.4580-4193C>T)
c.4185C>T (p.Thr1395=)
c.3761-4193C>T (n.3761-4193C>T)
c.3636C>T (p.Thr1212=)
c.5550C>T (p.Thr1850=)
c.5274C>T (p.Thr1758=)
9g.115046534G>CCA466912456TNCc.318-4193C>G
c.3215-4193C>G (n.3215-4193C>G)
c.3912C>G (p.Thr1304=)
c.1944C>G (p.Thr648=)
c.600C>G (p.Thr200=)
c.3959C>G
c.5001C>G (p.Thr1667=)
c.4455C>G (p.Thr1485=)
c.4307-4193C>G (n.4307-4193C>G)
n.319C>G
n.253-4193C>G
n.40-4193C>G
c.688C>G
c.4728C>G (p.Thr1576=)
c.4034-4193C>G (n.4034-4193C>G)
c.3363C>G (p.Thr1121=)
c.5277C>G (p.Thr1759=)
c.3488-4193C>G (n.3488-4193C>G)
c.5004C>G (p.Thr1668=)
c.4458C>G (p.Thr1486=)
c.4580-4193C>G (n.4580-4193C>G)
c.4185C>G (p.Thr1395=)
c.3761-4193C>G (n.3761-4193C>G)
c.3636C>G (p.Thr1212=)
c.5550C>G (p.Thr1850=)
c.5274C>G (p.Thr1758=)
9g.115046534G>TCA466912457TNCc.318-4193C>A
c.3215-4193C>A (n.3215-4193C>A)
c.3912C>A (p.Thr1304=)
c.1944C>A (p.Thr648=)
c.600C>A (p.Thr200=)
c.3959C>A
c.5001C>A (p.Thr1667=)
c.4455C>A (p.Thr1485=)
c.4307-4193C>A (n.4307-4193C>A)
n.319C>A
n.253-4193C>A
n.40-4193C>A
c.688C>A
c.4728C>A (p.Thr1576=)
c.4034-4193C>A (n.4034-4193C>A)
c.3363C>A (p.Thr1121=)
c.5277C>A (p.Thr1759=)
c.3488-4193C>A (n.3488-4193C>A)
c.5004C>A (p.Thr1668=)
c.4458C>A (p.Thr1486=)
c.4580-4193C>A (n.4580-4193C>A)
c.4185C>A (p.Thr1395=)
c.3761-4193C>A (n.3761-4193C>A)
c.3636C>A (p.Thr1212=)
c.5550C>A (p.Thr1850=)
c.5274C>A (p.Thr1758=)
9g.115046535G>ACA374630970TNCc.318-4194C>T
c.3215-4194C>T (n.3215-4194C>T)
c.3911C>T (p.Thr1304Ile)
c.1943C>T (p.Thr648Ile)
c.599C>T (p.Thr200Ile)
c.3958C>T
c.5000C>T (p.Thr1667Ile)
c.4454C>T (p.Thr1485Ile)
c.4307-4194C>T (n.4307-4194C>T)
n.318C>T
n.253-4194C>T
n.40-4194C>T
c.687C>T
c.4727C>T (p.Thr1576Ile)
c.4034-4194C>T (n.4034-4194C>T)
c.3362C>T (p.Thr1121Ile)
c.5276C>T (p.Thr1759Ile)
c.3488-4194C>T (n.3488-4194C>T)
c.5003C>T (p.Thr1668Ile)
c.4457C>T (p.Thr1486Ile)
c.4580-4194C>T (n.4580-4194C>T)
c.4184C>T (p.Thr1395Ile)
c.3761-4194C>T (n.3761-4194C>T)
c.3635C>T (p.Thr1212Ile)
c.5549C>T (p.Thr1850Ile)
c.5273C>T (p.Thr1758Ile)
 dbSNP
9g.115046535G>CCA374630972TNCc.318-4194C>G
c.3215-4194C>G (n.3215-4194C>G)
c.3911C>G (p.Thr1304Ser)
c.1943C>G (p.Thr648Ser)
c.599C>G (p.Thr200Ser)
c.3958C>G
c.5000C>G (p.Thr1667Ser)
c.4454C>G (p.Thr1485Ser)
c.4307-4194C>G (n.4307-4194C>G)
n.318C>G
n.253-4194C>G
n.40-4194C>G
c.687C>G
c.4727C>G (p.Thr1576Ser)
c.4034-4194C>G (n.4034-4194C>G)
c.3362C>G (p.Thr1121Ser)
c.5276C>G (p.Thr1759Ser)
c.3488-4194C>G (n.3488-4194C>G)
c.5003C>G (p.Thr1668Ser)
c.4457C>G (p.Thr1486Ser)
c.4580-4194C>G (n.4580-4194C>G)
c.4184C>G (p.Thr1395Ser)
c.3761-4194C>G (n.3761-4194C>G)
c.3635C>G (p.Thr1212Ser)
c.5549C>G (p.Thr1850Ser)
c.5273C>G (p.Thr1758Ser)
9g.115046535G=CA1874118904TNCc.318-4194C=
c.3215-4194C= (n.3215-4194C=)
c.3911C= (p.Thr1304=)
c.1943C= (p.Thr648=)
c.599C= (p.Thr200=)
c.3958C=
c.5000C= (p.Thr1667=)
c.4454C= (p.Thr1485=)
c.4307-4194C= (n.4307-4194C=)
n.318C=
n.253-4194C=
n.40-4194C=
c.687C=
c.4727C= (p.Thr1576=)
c.4034-4194C= (n.4034-4194C=)
c.3362C= (p.Thr1121=)
c.5276C= (p.Thr1759=)
c.3488-4194C= (n.3488-4194C=)
c.5003C= (p.Thr1668=)
c.4457C= (p.Thr1486=)
c.4580-4194C= (n.4580-4194C=)
c.4184C= (p.Thr1395=)
c.3761-4194C= (n.3761-4194C=)
c.3635C= (p.Thr1212=)
c.5549C= (p.Thr1850=)
c.5273C= (p.Thr1758=)
9g.115046535G>TCA198692619TNCc.318-4194C>A
c.3215-4194C>A (n.3215-4194C>A)
c.3911C>A (p.Thr1304Asn)
c.1943C>A (p.Thr648Asn)
c.599C>A (p.Thr200Asn)
c.3958C>A
c.5000C>A (p.Thr1667Asn)
c.4454C>A (p.Thr1485Asn)
c.4307-4194C>A (n.4307-4194C>A)
n.318C>A
n.253-4194C>A
n.40-4194C>A
c.687C>A
c.4727C>A (p.Thr1576Asn)
c.4034-4194C>A (n.4034-4194C>A)
c.3362C>A (p.Thr1121Asn)
c.5276C>A (p.Thr1759Asn)
c.3488-4194C>A (n.3488-4194C>A)
c.5003C>A (p.Thr1668Asn)
c.4457C>A (p.Thr1486Asn)
c.4580-4194C>A (n.4580-4194C>A)
c.4184C>A (p.Thr1395Asn)
c.3761-4194C>A (n.3761-4194C>A)
c.3635C>A (p.Thr1212Asn)
c.5549C>A (p.Thr1850Asn)
c.5273C>A (p.Thr1758Asn)
 dbSNP gnomAD v4
9g.115046536T>ACA374630974TNCc.318-4195A>T
c.3215-4195A>T (n.3215-4195A>T)
c.3910A>T (p.Thr1304Ser)
c.1942A>T (p.Thr648Ser)
c.598A>T (p.Thr200Ser)
c.3957A>T
c.4999A>T (p.Thr1667Ser)
c.4453A>T (p.Thr1485Ser)
c.4307-4195A>T (n.4307-4195A>T)
n.317A>T
n.253-4195A>T
n.40-4195A>T
c.686A>T
c.4726A>T (p.Thr1576Ser)
c.4034-4195A>T (n.4034-4195A>T)
c.3361A>T (p.Thr1121Ser)
c.5275A>T (p.Thr1759Ser)
c.3488-4195A>T (n.3488-4195A>T)
c.5002A>T (p.Thr1668Ser)
c.4456A>T (p.Thr1486Ser)
c.4580-4195A>T (n.4580-4195A>T)
c.4183A>T (p.Thr1395Ser)
c.3761-4195A>T (n.3761-4195A>T)
c.3634A>T (p.Thr1212Ser)
c.5548A>T (p.Thr1850Ser)
c.5272A>T (p.Thr1758Ser)
9g.115046536T>CCA374630976TNCc.318-4195A>G
c.3215-4195A>G (n.3215-4195A>G)
c.3910A>G (p.Thr1304Ala)
c.1942A>G (p.Thr648Ala)
c.598A>G (p.Thr200Ala)
c.3957A>G
c.4999A>G (p.Thr1667Ala)
c.4453A>G (p.Thr1485Ala)
c.4307-4195A>G (n.4307-4195A>G)
n.317A>G
n.253-4195A>G
n.40-4195A>G
c.686A>G
c.4726A>G (p.Thr1576Ala)
c.4034-4195A>G (n.4034-4195A>G)
c.3361A>G (p.Thr1121Ala)
c.5275A>G (p.Thr1759Ala)
c.3488-4195A>G (n.3488-4195A>G)
c.5002A>G (p.Thr1668Ala)
c.4456A>G (p.Thr1486Ala)
c.4580-4195A>G (n.4580-4195A>G)
c.4183A>G (p.Thr1395Ala)
c.3761-4195A>G (n.3761-4195A>G)
c.3634A>G (p.Thr1212Ala)
c.5548A>G (p.Thr1850Ala)
c.5272A>G (p.Thr1758Ala)
 gnomAD v4
9g.115046536T>GCA374630978TNCc.318-4195A>C
c.3215-4195A>C (n.3215-4195A>C)
c.3910A>C (p.Thr1304Pro)
c.1942A>C (p.Thr648Pro)
c.598A>C (p.Thr200Pro)
c.3957A>C
c.4999A>C (p.Thr1667Pro)
c.4453A>C (p.Thr1485Pro)
c.4307-4195A>C (n.4307-4195A>C)
n.317A>C
n.253-4195A>C
n.40-4195A>C
c.686A>C
c.4726A>C (p.Thr1576Pro)
c.4034-4195A>C (n.4034-4195A>C)
c.3361A>C (p.Thr1121Pro)
c.5275A>C (p.Thr1759Pro)
c.3488-4195A>C (n.3488-4195A>C)
c.5002A>C (p.Thr1668Pro)
c.4456A>C (p.Thr1486Pro)
c.4580-4195A>C (n.4580-4195A>C)
c.4183A>C (p.Thr1395Pro)
c.3761-4195A>C (n.3761-4195A>C)
c.3634A>C (p.Thr1212Pro)
c.5548A>C (p.Thr1850Pro)
c.5272A>C (p.Thr1758Pro)
9g.115046537T>ACA466912459TNCc.318-4196A>T
c.3215-4196A>T (n.3215-4196A>T)
c.3909A>T (p.Ile1303=)
c.1941A>T (p.Ile647=)
c.597A>T (p.Ile199=)
c.3956A>T
c.4998A>T (p.Ile1666=)
c.4452A>T (p.Ile1484=)
c.4307-4196A>T (n.4307-4196A>T)
n.316A>T
n.253-4196A>T
n.40-4196A>T
c.685A>T
c.4725A>T (p.Ile1575=)
c.4034-4196A>T (n.4034-4196A>T)
c.3360A>T (p.Ile1120=)
c.5274A>T (p.Ile1758=)
c.3488-4196A>T (n.3488-4196A>T)
c.5001A>T (p.Ile1667=)
c.4455A>T (p.Ile1485=)
c.4580-4196A>T (n.4580-4196A>T)
c.4182A>T (p.Ile1394=)
c.3761-4196A>T (n.3761-4196A>T)
c.3633A>T (p.Ile1211=)
c.5547A>T (p.Ile1849=)
c.5271A>T (p.Ile1757=)
9g.115046537T>CCA374630979TNCc.318-4196A>G
c.3215-4196A>G (n.3215-4196A>G)
c.3909A>G (p.Ile1303Met)
c.1941A>G (p.Ile647Met)
c.597A>G (p.Ile199Met)
c.3956A>G
c.4998A>G (p.Ile1666Met)
c.4452A>G (p.Ile1484Met)
c.4307-4196A>G (n.4307-4196A>G)
n.316A>G
n.253-4196A>G
n.40-4196A>G
c.685A>G
c.4725A>G (p.Ile1575Met)
c.4034-4196A>G (n.4034-4196A>G)
c.3360A>G (p.Ile1120Met)
c.5274A>G (p.Ile1758Met)
c.3488-4196A>G (n.3488-4196A>G)
c.5001A>G (p.Ile1667Met)
c.4455A>G (p.Ile1485Met)
c.4580-4196A>G (n.4580-4196A>G)
c.4182A>G (p.Ile1394Met)
c.3761-4196A>G (n.3761-4196A>G)
c.3633A>G (p.Ile1211Met)
c.5547A>G (p.Ile1849Met)
c.5271A>G (p.Ile1757Met)
9g.115046537T>GCA466912461TNCc.318-4196A>C
c.3215-4196A>C (n.3215-4196A>C)
c.3909A>C (p.Ile1303=)
c.1941A>C (p.Ile647=)
c.597A>C (p.Ile199=)
c.3956A>C
c.4998A>C (p.Ile1666=)
c.4452A>C (p.Ile1484=)
c.4307-4196A>C (n.4307-4196A>C)
n.316A>C
n.253-4196A>C
n.40-4196A>C
c.685A>C
c.4725A>C (p.Ile1575=)
c.4034-4196A>C (n.4034-4196A>C)
c.3360A>C (p.Ile1120=)
c.5274A>C (p.Ile1758=)
c.3488-4196A>C (n.3488-4196A>C)
c.5001A>C (p.Ile1667=)
c.4455A>C (p.Ile1485=)
c.4580-4196A>C (n.4580-4196A>C)
c.4182A>C (p.Ile1394=)
c.3761-4196A>C (n.3761-4196A>C)
c.3633A>C (p.Ile1211=)
c.5547A>C (p.Ile1849=)
c.5271A>C (p.Ile1757=)
9g.115046538A>CCA374630981TNCc.318-4197T>G
c.3215-4197T>G (n.3215-4197T>G)
c.3908T>G (p.Ile1303Arg)
c.1940T>G (p.Ile647Arg)
c.596T>G (p.Ile199Arg)
c.3955T>G
c.4997T>G (p.Ile1666Arg)
c.4451T>G (p.Ile1484Arg)
c.4307-4197T>G (n.4307-4197T>G)
n.315T>G
n.253-4197T>G
n.40-4197T>G
c.684T>G
c.4724T>G (p.Ile1575Arg)
c.4034-4197T>G (n.4034-4197T>G)
c.3359T>G (p.Ile1120Arg)
c.5273T>G (p.Ile1758Arg)
c.3488-4197T>G (n.3488-4197T>G)
c.5000T>G (p.Ile1667Arg)
c.4454T>G (p.Ile1485Arg)
c.4580-4197T>G (n.4580-4197T>G)
c.4181T>G (p.Ile1394Arg)
c.3761-4197T>G (n.3761-4197T>G)
c.3632T>G (p.Ile1211Arg)
c.5546T>G (p.Ile1849Arg)
c.5270T>G (p.Ile1757Arg)
 gnomAD v4 COSMIC
9g.115046538A>GCA374630983TNCc.318-4197T>C
c.3215-4197T>C (n.3215-4197T>C)
c.3908T>C (p.Ile1303Thr)
c.1940T>C (p.Ile647Thr)
c.596T>C (p.Ile199Thr)
c.3955T>C
c.4997T>C (p.Ile1666Thr)
c.4451T>C (p.Ile1484Thr)
c.4307-4197T>C (n.4307-4197T>C)
n.315T>C
n.253-4197T>C
n.40-4197T>C
c.684T>C
c.4724T>C (p.Ile1575Thr)
c.4034-4197T>C (n.4034-4197T>C)
c.3359T>C (p.Ile1120Thr)
c.5273T>C (p.Ile1758Thr)
c.3488-4197T>C (n.3488-4197T>C)
c.5000T>C (p.Ile1667Thr)
c.4454T>C (p.Ile1485Thr)
c.4580-4197T>C (n.4580-4197T>C)
c.4181T>C (p.Ile1394Thr)
c.3761-4197T>C (n.3761-4197T>C)
c.3632T>C (p.Ile1211Thr)
c.5546T>C (p.Ile1849Thr)
c.5270T>C (p.Ile1757Thr)
9g.115046538A>TCA374630984TNCc.318-4197T>A
c.3215-4197T>A (n.3215-4197T>A)
c.3908T>A (p.Ile1303Lys)
c.1940T>A (p.Ile647Lys)
c.596T>A (p.Ile199Lys)
c.3955T>A
c.4997T>A (p.Ile1666Lys)
c.4451T>A (p.Ile1484Lys)
c.4307-4197T>A (n.4307-4197T>A)
n.315T>A
n.253-4197T>A
n.40-4197T>A
c.684T>A
c.4724T>A (p.Ile1575Lys)
c.4034-4197T>A (n.4034-4197T>A)
c.3359T>A (p.Ile1120Lys)
c.5273T>A (p.Ile1758Lys)
c.3488-4197T>A (n.3488-4197T>A)
c.5000T>A (p.Ile1667Lys)
c.4454T>A (p.Ile1485Lys)
c.4580-4197T>A (n.4580-4197T>A)
c.4181T>A (p.Ile1394Lys)
c.3761-4197T>A (n.3761-4197T>A)
c.3632T>A (p.Ile1211Lys)
c.5546T>A (p.Ile1849Lys)
c.5270T>A (p.Ile1757Lys)
9g.115046539T>ACA374630990TNCc.318-4198A>T
c.3215-4198A>T (n.3215-4198A>T)
c.3907A>T (p.Ile1303Leu)
c.1939A>T (p.Ile647Leu)
c.595A>T (p.Ile199Leu)
c.3954A>T
c.4996A>T (p.Ile1666Leu)
c.4450A>T (p.Ile1484Leu)
c.4307-4198A>T (n.4307-4198A>T)
n.314A>T
n.253-4198A>T
n.40-4198A>T
c.683A>T
c.4723A>T (p.Ile1575Leu)
c.4034-4198A>T (n.4034-4198A>T)
c.3358A>T (p.Ile1120Leu)
c.5272A>T (p.Ile1758Leu)
c.3488-4198A>T (n.3488-4198A>T)
c.4999A>T (p.Ile1667Leu)
c.4453A>T (p.Ile1485Leu)
c.4580-4198A>T (n.4580-4198A>T)
c.4180A>T (p.Ile1394Leu)
c.3761-4198A>T (n.3761-4198A>T)
c.3631A>T (p.Ile1211Leu)
c.5545A>T (p.Ile1849Leu)
c.5269A>T (p.Ile1757Leu)
9g.115046539T>CCA374630989TNCc.318-4198A>G
c.3215-4198A>G (n.3215-4198A>G)
c.3907A>G (p.Ile1303Val)
c.1939A>G (p.Ile647Val)
c.595A>G (p.Ile199Val)
c.3954A>G
c.4996A>G (p.Ile1666Val)
c.4450A>G (p.Ile1484Val)
c.4307-4198A>G (n.4307-4198A>G)
n.314A>G
n.253-4198A>G
n.40-4198A>G
c.683A>G
c.4723A>G (p.Ile1575Val)
c.4034-4198A>G (n.4034-4198A>G)
c.3358A>G (p.Ile1120Val)
c.5272A>G (p.Ile1758Val)
c.3488-4198A>G (n.3488-4198A>G)
c.4999A>G (p.Ile1667Val)
c.4453A>G (p.Ile1485Val)
c.4580-4198A>G (n.4580-4198A>G)
c.4180A>G (p.Ile1394Val)
c.3761-4198A>G (n.3761-4198A>G)
c.3631A>G (p.Ile1211Val)
c.5545A>G (p.Ile1849Val)
c.5269A>G (p.Ile1757Val)
9g.115046539T>GCA374630987TNCc.318-4198A>C
c.3215-4198A>C (n.3215-4198A>C)
c.3907A>C (p.Ile1303Leu)
c.1939A>C (p.Ile647Leu)
c.595A>C (p.Ile199Leu)
c.3954A>C
c.4996A>C (p.Ile1666Leu)
c.4450A>C (p.Ile1484Leu)
c.4307-4198A>C (n.4307-4198A>C)
n.314A>C
n.253-4198A>C
n.40-4198A>C
c.683A>C
c.4723A>C (p.Ile1575Leu)
c.4034-4198A>C (n.4034-4198A>C)
c.3358A>C (p.Ile1120Leu)
c.5272A>C (p.Ile1758Leu)
c.3488-4198A>C (n.3488-4198A>C)
c.4999A>C (p.Ile1667Leu)
c.4453A>C (p.Ile1485Leu)
c.4580-4198A>C (n.4580-4198A>C)
c.4180A>C (p.Ile1394Leu)
c.3761-4198A>C (n.3761-4198A>C)
c.3631A>C (p.Ile1211Leu)
c.5545A>C (p.Ile1849Leu)
c.5269A>C (p.Ile1757Leu)
9g.115046540T>ACA374630992TNCc.318-4199A>T
c.3215-4199A>T (n.3215-4199A>T)
c.3906A>T (p.Glu1302Asp)
c.1938A>T (p.Glu646Asp)
c.594A>T (p.Glu198Asp)
c.3953A>T
c.4995A>T (p.Glu1665Asp)
c.4449A>T (p.Glu1483Asp)
c.4307-4199A>T (n.4307-4199A>T)
n.313A>T
n.253-4199A>T
n.40-4199A>T
c.682A>T
c.4722A>T (p.Glu1574Asp)
c.4034-4199A>T (n.4034-4199A>T)
c.3357A>T (p.Glu1119Asp)
c.5271A>T (p.Glu1757Asp)
c.3488-4199A>T (n.3488-4199A>T)
c.4998A>T (p.Glu1666Asp)
c.4452A>T (p.Glu1484Asp)
c.4580-4199A>T (n.4580-4199A>T)
c.4179A>T (p.Glu1393Asp)
c.3761-4199A>T (n.3761-4199A>T)
c.3630A>T (p.Glu1210Asp)
c.5544A>T (p.Glu1848Asp)
c.5268A>T (p.Glu1756Asp)
9g.115046540T>CCA466912463TNCc.318-4199A>G
c.3215-4199A>G (n.3215-4199A>G)
c.3906A>G (p.Glu1302=)
c.1938A>G (p.Glu646=)
c.594A>G (p.Glu198=)
c.3953A>G
c.4995A>G (p.Glu1665=)
c.4449A>G (p.Glu1483=)
c.4307-4199A>G (n.4307-4199A>G)
n.313A>G
n.253-4199A>G
n.40-4199A>G
c.682A>G
c.4722A>G (p.Glu1574=)
c.4034-4199A>G (n.4034-4199A>G)
c.3357A>G (p.Glu1119=)
c.5271A>G (p.Glu1757=)
c.3488-4199A>G (n.3488-4199A>G)
c.4998A>G (p.Glu1666=)
c.4452A>G (p.Glu1484=)
c.4580-4199A>G (n.4580-4199A>G)
c.4179A>G (p.Glu1393=)
c.3761-4199A>G (n.3761-4199A>G)
c.3630A>G (p.Glu1210=)
c.5544A>G (p.Glu1848=)
c.5268A>G (p.Glu1756=)
9g.115046540T>GCA374630993TNCc.318-4199A>C
c.3215-4199A>C (n.3215-4199A>C)
c.3906A>C (p.Glu1302Asp)
c.1938A>C (p.Glu646Asp)
c.594A>C (p.Glu198Asp)
c.3953A>C
c.4995A>C (p.Glu1665Asp)
c.4449A>C (p.Glu1483Asp)
c.4307-4199A>C (n.4307-4199A>C)
n.313A>C
n.253-4199A>C
n.40-4199A>C
c.682A>C
c.4722A>C (p.Glu1574Asp)
c.4034-4199A>C (n.4034-4199A>C)
c.3357A>C (p.Glu1119Asp)
c.5271A>C (p.Glu1757Asp)
c.3488-4199A>C (n.3488-4199A>C)
c.4998A>C (p.Glu1666Asp)
c.4452A>C (p.Glu1484Asp)
c.4580-4199A>C (n.4580-4199A>C)
c.4179A>C (p.Glu1393Asp)
c.3761-4199A>C (n.3761-4199A>C)
c.3630A>C (p.Glu1210Asp)
c.5544A>C (p.Glu1848Asp)
c.5268A>C (p.Glu1756Asp)
9g.115046541T>ACA374630995TNCc.318-4200A>T
c.3215-4200A>T (n.3215-4200A>T)
c.3905A>T (p.Glu1302Val)
c.1937A>T (p.Glu646Val)
c.593A>T (p.Glu198Val)
c.3952A>T
c.4994A>T (p.Glu1665Val)
c.4448A>T (p.Glu1483Val)
c.4307-4200A>T (n.4307-4200A>T)
n.312A>T
n.253-4200A>T
n.40-4200A>T
c.681A>T
c.4721A>T (p.Glu1574Val)
c.4034-4200A>T (n.4034-4200A>T)
c.3356A>T (p.Glu1119Val)
c.5270A>T (p.Glu1757Val)
c.3488-4200A>T (n.3488-4200A>T)
c.4997A>T (p.Glu1666Val)
c.4451A>T (p.Glu1484Val)
c.4580-4200A>T (n.4580-4200A>T)
c.4178A>T (p.Glu1393Val)
c.3761-4200A>T (n.3761-4200A>T)
c.3629A>T (p.Glu1210Val)
c.5543A>T (p.Glu1848Val)
c.5267A>T (p.Glu1756Val)
9g.115046541T>CCA374630997TNCc.318-4200A>G
c.3215-4200A>G (n.3215-4200A>G)
c.3905A>G (p.Glu1302Gly)
c.1937A>G (p.Glu646Gly)
c.593A>G (p.Glu198Gly)
c.3952A>G
c.4994A>G (p.Glu1665Gly)
c.4448A>G (p.Glu1483Gly)
c.4307-4200A>G (n.4307-4200A>G)
n.312A>G
n.253-4200A>G
n.40-4200A>G
c.681A>G
c.4721A>G (p.Glu1574Gly)
c.4034-4200A>G (n.4034-4200A>G)
c.3356A>G (p.Glu1119Gly)
c.5270A>G (p.Glu1757Gly)
c.3488-4200A>G (n.3488-4200A>G)
c.4997A>G (p.Glu1666Gly)
c.4451A>G (p.Glu1484Gly)
c.4580-4200A>G (n.4580-4200A>G)
c.4178A>G (p.Glu1393Gly)
c.3761-4200A>G (n.3761-4200A>G)
c.3629A>G (p.Glu1210Gly)
c.5543A>G (p.Glu1848Gly)
c.5267A>G (p.Glu1756Gly)
9g.115046541T>GCA374630998TNCc.318-4200A>C
c.3215-4200A>C (n.3215-4200A>C)
c.3905A>C (p.Glu1302Ala)
c.1937A>C (p.Glu646Ala)
c.593A>C (p.Glu198Ala)
c.3952A>C
c.4994A>C (p.Glu1665Ala)
c.4448A>C (p.Glu1483Ala)
c.4307-4200A>C (n.4307-4200A>C)
n.312A>C
n.253-4200A>C
n.40-4200A>C
c.681A>C
c.4721A>C (p.Glu1574Ala)
c.4034-4200A>C (n.4034-4200A>C)
c.3356A>C (p.Glu1119Ala)
c.5270A>C (p.Glu1757Ala)
c.3488-4200A>C (n.3488-4200A>C)
c.4997A>C (p.Glu1666Ala)
c.4451A>C (p.Glu1484Ala)
c.4580-4200A>C (n.4580-4200A>C)
c.4178A>C (p.Glu1393Ala)
c.3761-4200A>C (n.3761-4200A>C)
c.3629A>C (p.Glu1210Ala)
c.5543A>C (p.Glu1848Ala)
c.5267A>C (p.Glu1756Ala)
 gnomAD v4
9g.115046542C>ACA374631000TNCc.318-4201G>T
c.3215-4201G>T (n.3215-4201G>T)
c.3904G>T (p.Glu1302Ter)
c.1936G>T (p.Glu646Ter)
c.592G>T (p.Glu198Ter)
c.3951G>T
c.4993G>T (p.Glu1665Ter)
c.4447G>T (p.Glu1483Ter)
c.4307-4201G>T (n.4307-4201G>T)
n.311G>T
n.253-4201G>T
n.40-4201G>T
c.680G>T
c.4720G>T (p.Glu1574Ter)
c.4034-4201G>T (n.4034-4201G>T)
c.3355G>T (p.Glu1119Ter)
c.5269G>T (p.Glu1757Ter)
c.3488-4201G>T (n.3488-4201G>T)
c.4996G>T (p.Glu1666Ter)
c.4450G>T (p.Glu1484Ter)
c.4580-4201G>T (n.4580-4201G>T)
c.4177G>T (p.Glu1393Ter)
c.3761-4201G>T (n.3761-4201G>T)
c.3628G>T (p.Glu1210Ter)
c.5542G>T (p.Glu1848Ter)
c.5266G>T (p.Glu1756Ter)
9g.115046542C>GCA374631001TNCc.318-4201G>C
c.3215-4201G>C (n.3215-4201G>C)
c.3904G>C (p.Glu1302Gln)
c.1936G>C (p.Glu646Gln)
c.592G>C (p.Glu198Gln)
c.3951G>C
c.4993G>C (p.Glu1665Gln)
c.4447G>C (p.Glu1483Gln)
c.4307-4201G>C (n.4307-4201G>C)
n.311G>C
n.253-4201G>C
n.40-4201G>C
c.680G>C
c.4720G>C (p.Glu1574Gln)
c.4034-4201G>C (n.4034-4201G>C)
c.3355G>C (p.Glu1119Gln)
c.5269G>C (p.Glu1757Gln)
c.3488-4201G>C (n.3488-4201G>C)
c.4996G>C (p.Glu1666Gln)
c.4450G>C (p.Glu1484Gln)
c.4580-4201G>C (n.4580-4201G>C)
c.4177G>C (p.Glu1393Gln)
c.3761-4201G>C (n.3761-4201G>C)
c.3628G>C (p.Glu1210Gln)
c.5542G>C (p.Glu1848Gln)
c.5266G>C (p.Glu1756Gln)
9g.115046542C>TCA374631003TNCc.318-4201G>A
c.3215-4201G>A (n.3215-4201G>A)
c.3904G>A (p.Glu1302Lys)
c.1936G>A (p.Glu646Lys)
c.592G>A (p.Glu198Lys)
c.3951G>A
c.4993G>A (p.Glu1665Lys)
c.4447G>A (p.Glu1483Lys)
c.4307-4201G>A (n.4307-4201G>A)
n.311G>A
n.253-4201G>A
n.40-4201G>A
c.680G>A
c.4720G>A (p.Glu1574Lys)
c.4034-4201G>A (n.4034-4201G>A)
c.3355G>A (p.Glu1119Lys)
c.5269G>A (p.Glu1757Lys)
c.3488-4201G>A (n.3488-4201G>A)
c.4996G>A (p.Glu1666Lys)
c.4450G>A (p.Glu1484Lys)
c.4580-4201G>A (n.4580-4201G>A)
c.4177G>A (p.Glu1393Lys)
c.3761-4201G>A (n.3761-4201G>A)
c.3628G>A (p.Glu1210Lys)
c.5542G>A (p.Glu1848Lys)
c.5266G>A (p.Glu1756Lys)
 COSMIC
9g.115046543C>ACA466912465TNCc.318-4202G>T
c.3215-4202G>T (n.3215-4202G>T)
c.3903G>T (p.Leu1301=)
c.1935G>T (p.Leu645=)
c.591G>T (p.Leu197=)
c.3950G>T
c.4992G>T (p.Leu1664=)
c.4446G>T (p.Leu1482=)
c.4307-4202G>T (n.4307-4202G>T)
n.310G>T
n.253-4202G>T
n.40-4202G>T
c.679G>T
c.4719G>T (p.Leu1573=)
c.4034-4202G>T (n.4034-4202G>T)
c.3354G>T (p.Leu1118=)
c.5268G>T (p.Leu1756=)
c.3488-4202G>T (n.3488-4202G>T)
c.4995G>T (p.Leu1665=)
c.4449G>T (p.Leu1483=)
c.4580-4202G>T (n.4580-4202G>T)
c.4176G>T (p.Leu1392=)
c.3761-4202G>T (n.3761-4202G>T)
c.3627G>T (p.Leu1209=)
c.5541G>T (p.Leu1847=)
c.5265G>T (p.Leu1755=)
9g.115046543C>GCA466912466TNCc.318-4202G>C
c.3215-4202G>C (n.3215-4202G>C)
c.3903G>C (p.Leu1301=)
c.1935G>C (p.Leu645=)
c.591G>C (p.Leu197=)
c.3950G>C
c.4992G>C (p.Leu1664=)
c.4446G>C (p.Leu1482=)
c.4307-4202G>C (n.4307-4202G>C)
n.310G>C
n.253-4202G>C
n.40-4202G>C
c.679G>C
c.4719G>C (p.Leu1573=)
c.4034-4202G>C (n.4034-4202G>C)
c.3354G>C (p.Leu1118=)
c.5268G>C (p.Leu1756=)
c.3488-4202G>C (n.3488-4202G>C)
c.4995G>C (p.Leu1665=)
c.4449G>C (p.Leu1483=)
c.4580-4202G>C (n.4580-4202G>C)
c.4176G>C (p.Leu1392=)
c.3761-4202G>C (n.3761-4202G>C)
c.3627G>C (p.Leu1209=)
c.5541G>C (p.Leu1847=)
c.5265G>C (p.Leu1755=)
9g.115046543C>TCA466912467TNCc.318-4202G>A
c.3215-4202G>A (n.3215-4202G>A)
c.3903G>A (p.Leu1301=)
c.1935G>A (p.Leu645=)
c.591G>A (p.Leu197=)
c.3950G>A
c.4992G>A (p.Leu1664=)
c.4446G>A (p.Leu1482=)
c.4307-4202G>A (n.4307-4202G>A)
n.310G>A
n.253-4202G>A
n.40-4202G>A
c.679G>A
c.4719G>A (p.Leu1573=)
c.4034-4202G>A (n.4034-4202G>A)
c.3354G>A (p.Leu1118=)
c.5268G>A (p.Leu1756=)
c.3488-4202G>A (n.3488-4202G>A)
c.4995G>A (p.Leu1665=)
c.4449G>A (p.Leu1483=)
c.4580-4202G>A (n.4580-4202G>A)
c.4176G>A (p.Leu1392=)
c.3761-4202G>A (n.3761-4202G>A)
c.3627G>A (p.Leu1209=)
c.5541G>A (p.Leu1847=)
c.5265G>A (p.Leu1755=)
9g.115046544A>CCA374631004TNCc.318-4203T>G
c.3215-4203T>G (n.3215-4203T>G)
c.3902T>G (p.Leu1301Arg)
c.1934T>G (p.Leu645Arg)
c.590T>G (p.Leu197Arg)
c.3949T>G
c.4991T>G (p.Leu1664Arg)
c.4445T>G (p.Leu1482Arg)
c.4307-4203T>G (n.4307-4203T>G)
n.309T>G
n.253-4203T>G
n.40-4203T>G
c.678T>G
c.4718T>G (p.Leu1573Arg)
c.4034-4203T>G (n.4034-4203T>G)
c.3353T>G (p.Leu1118Arg)
c.5267T>G (p.Leu1756Arg)
c.3488-4203T>G (n.3488-4203T>G)
c.4994T>G (p.Leu1665Arg)
c.4448T>G (p.Leu1483Arg)
c.4580-4203T>G (n.4580-4203T>G)
c.4175T>G (p.Leu1392Arg)
c.3761-4203T>G (n.3761-4203T>G)
c.3626T>G (p.Leu1209Arg)
c.5540T>G (p.Leu1847Arg)
c.5264T>G (p.Leu1755Arg)
 COSMIC
9g.115046544A>GCA374631006TNCc.318-4203T>C
c.3215-4203T>C (n.3215-4203T>C)
c.3902T>C (p.Leu1301Pro)
c.1934T>C (p.Leu645Pro)
c.590T>C (p.Leu197Pro)
c.3949T>C
c.4991T>C (p.Leu1664Pro)
c.4445T>C (p.Leu1482Pro)
c.4307-4203T>C (n.4307-4203T>C)
n.309T>C
n.253-4203T>C
n.40-4203T>C
c.678T>C
c.4718T>C (p.Leu1573Pro)
c.4034-4203T>C (n.4034-4203T>C)
c.3353T>C (p.Leu1118Pro)
c.5267T>C (p.Leu1756Pro)
c.3488-4203T>C (n.3488-4203T>C)
c.4994T>C (p.Leu1665Pro)
c.4448T>C (p.Leu1483Pro)
c.4580-4203T>C (n.4580-4203T>C)
c.4175T>C (p.Leu1392Pro)
c.3761-4203T>C (n.3761-4203T>C)
c.3626T>C (p.Leu1209Pro)
c.5540T>C (p.Leu1847Pro)
c.5264T>C (p.Leu1755Pro)
9g.115046544A>TCA374631007TNCc.318-4203T>A
c.3215-4203T>A (n.3215-4203T>A)
c.3902T>A (p.Leu1301Gln)
c.1934T>A (p.Leu645Gln)
c.590T>A (p.Leu197Gln)
c.3949T>A
c.4991T>A (p.Leu1664Gln)
c.4445T>A (p.Leu1482Gln)
c.4307-4203T>A (n.4307-4203T>A)
n.309T>A
n.253-4203T>A
n.40-4203T>A
c.678T>A
c.4718T>A (p.Leu1573Gln)
c.4034-4203T>A (n.4034-4203T>A)
c.3353T>A (p.Leu1118Gln)
c.5267T>A (p.Leu1756Gln)
c.3488-4203T>A (n.3488-4203T>A)
c.4994T>A (p.Leu1665Gln)
c.4448T>A (p.Leu1483Gln)
c.4580-4203T>A (n.4580-4203T>A)
c.4175T>A (p.Leu1392Gln)
c.3761-4203T>A (n.3761-4203T>A)
c.3626T>A (p.Leu1209Gln)
c.5540T>A (p.Leu1847Gln)
c.5264T>A (p.Leu1755Gln)
9g.115046545G>ACA466912468TNCc.318-4204C>T
c.3215-4204C>T (n.3215-4204C>T)
c.3901C>T (p.Leu1301=)
c.1933C>T (p.Leu645=)
c.589C>T (p.Leu197=)
c.3948C>T
c.4990C>T (p.Leu1664=)
c.4444C>T (p.Leu1482=)
c.4307-4204C>T (n.4307-4204C>T)
n.308C>T
n.253-4204C>T
n.40-4204C>T
c.677C>T
c.4717C>T (p.Leu1573=)
c.4034-4204C>T (n.4034-4204C>T)
c.3352C>T (p.Leu1118=)
c.5266C>T (p.Leu1756=)
c.3488-4204C>T (n.3488-4204C>T)
c.4993C>T (p.Leu1665=)
c.4447C>T (p.Leu1483=)
c.4580-4204C>T (n.4580-4204C>T)
c.4174C>T (p.Leu1392=)
c.3761-4204C>T (n.3761-4204C>T)
c.3625C>T (p.Leu1209=)
c.5539C>T (p.Leu1847=)
c.5263C>T (p.Leu1755=)
9g.115046545G>CCA374631009TNCc.318-4204C>G
c.3215-4204C>G (n.3215-4204C>G)
c.3901C>G (p.Leu1301Val)
c.1933C>G (p.Leu645Val)
c.589C>G (p.Leu197Val)
c.3948C>G
c.4990C>G (p.Leu1664Val)
c.4444C>G (p.Leu1482Val)
c.4307-4204C>G (n.4307-4204C>G)
n.308C>G
n.253-4204C>G
n.40-4204C>G
c.677C>G
c.4717C>G (p.Leu1573Val)
c.4034-4204C>G (n.4034-4204C>G)
c.3352C>G (p.Leu1118Val)
c.5266C>G (p.Leu1756Val)
c.3488-4204C>G (n.3488-4204C>G)
c.4993C>G (p.Leu1665Val)
c.4447C>G (p.Leu1483Val)
c.4580-4204C>G (n.4580-4204C>G)
c.4174C>G (p.Leu1392Val)
c.3761-4204C>G (n.3761-4204C>G)
c.3625C>G (p.Leu1209Val)
c.5539C>G (p.Leu1847Val)
c.5263C>G (p.Leu1755Val)
9g.115046545G>TCA374631010TNCc.318-4204C>A
c.3215-4204C>A (n.3215-4204C>A)
c.3901C>A (p.Leu1301Met)
c.1933C>A (p.Leu645Met)
c.589C>A (p.Leu197Met)
c.3948C>A
c.4990C>A (p.Leu1664Met)
c.4444C>A (p.Leu1482Met)
c.4307-4204C>A (n.4307-4204C>A)
n.308C>A
n.253-4204C>A
n.40-4204C>A
c.677C>A
c.4717C>A (p.Leu1573Met)
c.4034-4204C>A (n.4034-4204C>A)
c.3352C>A (p.Leu1118Met)
c.5266C>A (p.Leu1756Met)
c.3488-4204C>A (n.3488-4204C>A)
c.4993C>A (p.Leu1665Met)
c.4447C>A (p.Leu1483Met)
c.4580-4204C>A (n.4580-4204C>A)
c.4174C>A (p.Leu1392Met)
c.3761-4204C>A (n.3761-4204C>A)
c.3625C>A (p.Leu1209Met)
c.5539C>A (p.Leu1847Met)
c.5263C>A (p.Leu1755Met)
9g.115046546T>ACA466912470TNCc.318-4205A>T
c.3215-4205A>T (n.3215-4205A>T)
c.3900A>T (p.Pro1300=)
c.1932A>T (p.Pro644=)
c.588A>T (p.Pro196=)
c.3947A>T
c.4989A>T (p.Pro1663=)
c.4443A>T (p.Pro1481=)
c.4307-4205A>T (n.4307-4205A>T)
n.307A>T
n.253-4205A>T
n.40-4205A>T
c.676A>T
c.4716A>T (p.Pro1572=)
c.4034-4205A>T (n.4034-4205A>T)
c.3351A>T (p.Pro1117=)
c.5265A>T (p.Pro1755=)
c.3488-4205A>T (n.3488-4205A>T)
c.4992A>T (p.Pro1664=)
c.4446A>T (p.Pro1482=)
c.4580-4205A>T (n.4580-4205A>T)
c.4173A>T (p.Pro1391=)
c.3761-4205A>T (n.3761-4205A>T)
c.3624A>T (p.Pro1208=)
c.5538A>T (p.Pro1846=)
c.5262A>T (p.Pro1754=)
9g.115046546T>CCA5207774TNCc.318-4205A>G
c.3215-4205A>G (n.3215-4205A>G)
c.3900A>G (p.Pro1300=)
c.1932A>G (p.Pro644=)
c.588A>G (p.Pro196=)
c.3947A>G
c.4989A>G (p.Pro1663=)
c.4443A>G (p.Pro1481=)
c.4307-4205A>G (n.4307-4205A>G)
n.307A>G
n.253-4205A>G
n.40-4205A>G
c.676A>G
c.4716A>G (p.Pro1572=)
c.4034-4205A>G (n.4034-4205A>G)
c.3351A>G (p.Pro1117=)
c.5265A>G (p.Pro1755=)
c.3488-4205A>G (n.3488-4205A>G)
c.4992A>G (p.Pro1664=)
c.4446A>G (p.Pro1482=)
c.4580-4205A>G (n.4580-4205A>G)
c.4173A>G (p.Pro1391=)
c.3761-4205A>G (n.3761-4205A>G)
c.3624A>G (p.Pro1208=)
c.5538A>G (p.Pro1846=)
c.5262A>G (p.Pro1754=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.115046546T>GCA466912471TNCc.318-4205A>C
c.3215-4205A>C (n.3215-4205A>C)
c.3900A>C (p.Pro1300=)
c.1932A>C (p.Pro644=)
c.588A>C (p.Pro196=)
c.3947A>C
c.4989A>C (p.Pro1663=)
c.4443A>C (p.Pro1481=)
c.4307-4205A>C (n.4307-4205A>C)
n.307A>C
n.253-4205A>C
n.40-4205A>C
c.676A>C
c.4716A>C (p.Pro1572=)
c.4034-4205A>C (n.4034-4205A>C)
c.3351A>C (p.Pro1117=)
c.5265A>C (p.Pro1755=)
c.3488-4205A>C (n.3488-4205A>C)
c.4992A>C (p.Pro1664=)
c.4446A>C (p.Pro1482=)
c.4580-4205A>C (n.4580-4205A>C)
c.4173A>C (p.Pro1391=)
c.3761-4205A>C (n.3761-4205A>C)
c.3624A>C (p.Pro1208=)
c.5538A>C (p.Pro1846=)
c.5262A>C (p.Pro1754=)
9g.115046546T=CA1874118905TNCc.318-4205A=
c.3215-4205A= (n.3215-4205A=)
c.3900A= (p.Pro1300=)
c.1932A= (p.Pro644=)
c.588A= (p.Pro196=)
c.3947A=
c.4989A= (p.Pro1663=)
c.4443A= (p.Pro1481=)
c.4307-4205A= (n.4307-4205A=)
n.307A=
n.253-4205A=
n.40-4205A=
c.676A=
c.4716A= (p.Pro1572=)
c.4034-4205A= (n.4034-4205A=)
c.3351A= (p.Pro1117=)
c.5265A= (p.Pro1755=)
c.3488-4205A= (n.3488-4205A=)
c.4992A= (p.Pro1664=)
c.4446A= (p.Pro1482=)
c.4580-4205A= (n.4580-4205A=)
c.4173A= (p.Pro1391=)
c.3761-4205A= (n.3761-4205A=)
c.3624A= (p.Pro1208=)
c.5538A= (p.Pro1846=)
c.5262A= (p.Pro1754=)
9g.115046547G>ACA374631014TNCc.318-4206C>T
c.3215-4206C>T (n.3215-4206C>T)
c.3899C>T (p.Pro1300Leu)
c.1931C>T (p.Pro644Leu)
c.587C>T (p.Pro196Leu)
c.3946C>T
c.4988C>T (p.Pro1663Leu)
c.4442C>T (p.Pro1481Leu)
c.4307-4206C>T (n.4307-4206C>T)
n.306C>T
n.253-4206C>T
n.40-4206C>T
c.675C>T
c.4715C>T (p.Pro1572Leu)
c.4034-4206C>T (n.4034-4206C>T)
c.3350C>T (p.Pro1117Leu)
c.5264C>T (p.Pro1755Leu)
c.3488-4206C>T (n.3488-4206C>T)
c.4991C>T (p.Pro1664Leu)
c.4445C>T (p.Pro1482Leu)
c.4580-4206C>T (n.4580-4206C>T)
c.4172C>T (p.Pro1391Leu)
c.3761-4206C>T (n.3761-4206C>T)
c.3623C>T (p.Pro1208Leu)
c.5537C>T (p.Pro1846Leu)
c.5261C>T (p.Pro1754Leu)
 dbSNP gnomAD v2 gnomAD v4
9g.115046547G>CCA374631012TNCc.318-4206C>G
c.3215-4206C>G (n.3215-4206C>G)
c.3899C>G (p.Pro1300Arg)
c.1931C>G (p.Pro644Arg)
c.587C>G (p.Pro196Arg)
c.3946C>G
c.4988C>G (p.Pro1663Arg)
c.4442C>G (p.Pro1481Arg)
c.4307-4206C>G (n.4307-4206C>G)
n.306C>G
n.253-4206C>G
n.40-4206C>G
c.675C>G
c.4715C>G (p.Pro1572Arg)
c.4034-4206C>G (n.4034-4206C>G)
c.3350C>G (p.Pro1117Arg)
c.5264C>G (p.Pro1755Arg)
c.3488-4206C>G (n.3488-4206C>G)
c.4991C>G (p.Pro1664Arg)
c.4445C>G (p.Pro1482Arg)
c.4580-4206C>G (n.4580-4206C>G)
c.4172C>G (p.Pro1391Arg)
c.3761-4206C>G (n.3761-4206C>G)
c.3623C>G (p.Pro1208Arg)
c.5537C>G (p.Pro1846Arg)
c.5261C>G (p.Pro1754Arg)
9g.115046547G=CA1874118906TNCc.318-4206C=
c.3215-4206C= (n.3215-4206C=)
c.3899C= (p.Pro1300=)
c.1931C= (p.Pro644=)
c.587C= (p.Pro196=)
c.3946C=
c.4988C= (p.Pro1663=)
c.4442C= (p.Pro1481=)
c.4307-4206C= (n.4307-4206C=)
n.306C=
n.253-4206C=
n.40-4206C=
c.675C=
c.4715C= (p.Pro1572=)
c.4034-4206C= (n.4034-4206C=)
c.3350C= (p.Pro1117=)
c.5264C= (p.Pro1755=)
c.3488-4206C= (n.3488-4206C=)
c.4991C= (p.Pro1664=)
c.4445C= (p.Pro1482=)
c.4580-4206C= (n.4580-4206C=)
c.4172C= (p.Pro1391=)
c.3761-4206C= (n.3761-4206C=)
c.3623C= (p.Pro1208=)
c.5537C= (p.Pro1846=)
c.5261C= (p.Pro1754=)
9g.115046547G>TCA374631015TNCc.318-4206C>A
c.3215-4206C>A (n.3215-4206C>A)
c.3899C>A (p.Pro1300Gln)
c.1931C>A (p.Pro644Gln)
c.587C>A (p.Pro196Gln)
c.3946C>A
c.4988C>A (p.Pro1663Gln)
c.4442C>A (p.Pro1481Gln)
c.4307-4206C>A (n.4307-4206C>A)
n.306C>A
n.253-4206C>A
n.40-4206C>A
c.675C>A
c.4715C>A (p.Pro1572Gln)
c.4034-4206C>A (n.4034-4206C>A)
c.3350C>A (p.Pro1117Gln)
c.5264C>A (p.Pro1755Gln)
c.3488-4206C>A (n.3488-4206C>A)
c.4991C>A (p.Pro1664Gln)
c.4445C>A (p.Pro1482Gln)
c.4580-4206C>A (n.4580-4206C>A)
c.4172C>A (p.Pro1391Gln)
c.3761-4206C>A (n.3761-4206C>A)
c.3623C>A (p.Pro1208Gln)
c.5537C>A (p.Pro1846Gln)
c.5261C>A (p.Pro1754Gln)
9g.115046548G>ACA374631017TNCc.318-4207C>T
c.3215-4207C>T (n.3215-4207C>T)
c.3898C>T (p.Pro1300Ser)
c.1930C>T (p.Pro644Ser)
c.586C>T (p.Pro196Ser)
c.3945C>T
c.4987C>T (p.Pro1663Ser)
c.4441C>T (p.Pro1481Ser)
c.4307-4207C>T (n.4307-4207C>T)
n.305C>T
n.253-4207C>T
n.40-4207C>T
c.674C>T
c.4714C>T (p.Pro1572Ser)
c.4034-4207C>T (n.4034-4207C>T)
c.3349C>T (p.Pro1117Ser)
c.5263C>T (p.Pro1755Ser)
c.3488-4207C>T (n.3488-4207C>T)
c.4990C>T (p.Pro1664Ser)
c.4444C>T (p.Pro1482Ser)
c.4580-4207C>T (n.4580-4207C>T)
c.4171C>T (p.Pro1391Ser)
c.3761-4207C>T (n.3761-4207C>T)
c.3622C>T (p.Pro1208Ser)
c.5536C>T (p.Pro1846Ser)
c.5260C>T (p.Pro1754Ser)
9g.115046548G>CCA374631018TNCc.318-4207C>G
c.3215-4207C>G (n.3215-4207C>G)
c.3898C>G (p.Pro1300Ala)
c.1930C>G (p.Pro644Ala)
c.586C>G (p.Pro196Ala)
c.3945C>G
c.4987C>G (p.Pro1663Ala)
c.4441C>G (p.Pro1481Ala)
c.4307-4207C>G (n.4307-4207C>G)
n.305C>G
n.253-4207C>G
n.40-4207C>G
c.674C>G
c.4714C>G (p.Pro1572Ala)
c.4034-4207C>G (n.4034-4207C>G)
c.3349C>G (p.Pro1117Ala)
c.5263C>G (p.Pro1755Ala)
c.3488-4207C>G (n.3488-4207C>G)
c.4990C>G (p.Pro1664Ala)
c.4444C>G (p.Pro1482Ala)
c.4580-4207C>G (n.4580-4207C>G)
c.4171C>G (p.Pro1391Ala)
c.3761-4207C>G (n.3761-4207C>G)
c.3622C>G (p.Pro1208Ala)
c.5536C>G (p.Pro1846Ala)
c.5260C>G (p.Pro1754Ala)
9g.115046548G=CA1874118907TNCc.318-4207C=
c.3215-4207C= (n.3215-4207C=)
c.3898C= (p.Pro1300=)
c.1930C= (p.Pro644=)
c.586C= (p.Pro196=)
c.3945C=
c.4987C= (p.Pro1663=)
c.4441C= (p.Pro1481=)
c.4307-4207C= (n.4307-4207C=)
n.305C=
n.253-4207C=
n.40-4207C=
c.674C=
c.4714C= (p.Pro1572=)
c.4034-4207C= (n.4034-4207C=)
c.3349C= (p.Pro1117=)
c.5263C= (p.Pro1755=)
c.3488-4207C= (n.3488-4207C=)
c.4990C= (p.Pro1664=)
c.4444C= (p.Pro1482=)
c.4580-4207C= (n.4580-4207C=)
c.4171C= (p.Pro1391=)
c.3761-4207C= (n.3761-4207C=)
c.3622C= (p.Pro1208=)
c.5536C= (p.Pro1846=)
c.5260C= (p.Pro1754=)
9g.115046548G>TCA5207775TNCc.318-4207C>A
c.3215-4207C>A (n.3215-4207C>A)
c.3898C>A (p.Pro1300Thr)
c.1930C>A (p.Pro644Thr)
c.586C>A (p.Pro196Thr)
c.3945C>A
c.4987C>A (p.Pro1663Thr)
c.4441C>A (p.Pro1481Thr)
c.4307-4207C>A (n.4307-4207C>A)
n.305C>A
n.253-4207C>A
n.40-4207C>A
c.674C>A
c.4714C>A (p.Pro1572Thr)
c.4034-4207C>A (n.4034-4207C>A)
c.3349C>A (p.Pro1117Thr)
c.5263C>A (p.Pro1755Thr)
c.3488-4207C>A (n.3488-4207C>A)
c.4990C>A (p.Pro1664Thr)
c.4444C>A (p.Pro1482Thr)
c.4580-4207C>A (n.4580-4207C>A)
c.4171C>A (p.Pro1391Thr)
c.3761-4207C>A (n.3761-4207C>A)
c.3622C>A (p.Pro1208Thr)
c.5536C>A (p.Pro1846Thr)
c.5260C>A (p.Pro1754Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.115046549C>ACA374631021TNCc.318-4208G>T
c.3215-4208G>T (n.3215-4208G>T)
c.3897G>T (p.Glu1299Asp)
c.1929G>T (p.Glu643Asp)
c.585G>T (p.Glu195Asp)
c.3944G>T
c.4986G>T (p.Glu1662Asp)
c.4440G>T (p.Glu1480Asp)
c.4307-4208G>T (n.4307-4208G>T)
n.304G>T
n.253-4208G>T
n.40-4208G>T
c.673G>T
c.4713G>T (p.Glu1571Asp)
c.4034-4208G>T (n.4034-4208G>T)
c.3348G>T (p.Glu1116Asp)
c.5262G>T (p.Glu1754Asp)
c.3488-4208G>T (n.3488-4208G>T)
c.4989G>T (p.Glu1663Asp)
c.4443G>T (p.Glu1481Asp)
c.4580-4208G>T (n.4580-4208G>T)
c.4170G>T (p.Glu1390Asp)
c.3761-4208G>T (n.3761-4208G>T)
c.3621G>T (p.Glu1207Asp)
c.5535G>T (p.Glu1845Asp)
c.5259G>T (p.Glu1753Asp)
9g.115046549C>GCA374631022TNCc.318-4208G>C
c.3215-4208G>C (n.3215-4208G>C)
c.3897G>C (p.Glu1299Asp)
c.1929G>C (p.Glu643Asp)
c.585G>C (p.Glu195Asp)
c.3944G>C
c.4986G>C (p.Glu1662Asp)
c.4440G>C (p.Glu1480Asp)
c.4307-4208G>C (n.4307-4208G>C)
n.304G>C
n.253-4208G>C
n.40-4208G>C
c.673G>C
c.4713G>C (p.Glu1571Asp)
c.4034-4208G>C (n.4034-4208G>C)
c.3348G>C (p.Glu1116Asp)
c.5262G>C (p.Glu1754Asp)
c.3488-4208G>C (n.3488-4208G>C)
c.4989G>C (p.Glu1663Asp)
c.4443G>C (p.Glu1481Asp)
c.4580-4208G>C (n.4580-4208G>C)
c.4170G>C (p.Glu1390Asp)
c.3761-4208G>C (n.3761-4208G>C)
c.3621G>C (p.Glu1207Asp)
c.5535G>C (p.Glu1845Asp)
c.5259G>C (p.Glu1753Asp)
9g.115046549C>TCA466912472TNCc.318-4208G>A
c.3215-4208G>A (n.3215-4208G>A)
c.3897G>A (p.Glu1299=)
c.1929G>A (p.Glu643=)
c.585G>A (p.Glu195=)
c.3944G>A
c.4986G>A (p.Glu1662=)
c.4440G>A (p.Glu1480=)
c.4307-4208G>A (n.4307-4208G>A)
n.304G>A
n.253-4208G>A
n.40-4208G>A
c.673G>A
c.4713G>A (p.Glu1571=)
c.4034-4208G>A (n.4034-4208G>A)
c.3348G>A (p.Glu1116=)
c.5262G>A (p.Glu1754=)
c.3488-4208G>A (n.3488-4208G>A)
c.4989G>A (p.Glu1663=)
c.4443G>A (p.Glu1481=)
c.4580-4208G>A (n.4580-4208G>A)
c.4170G>A (p.Glu1390=)
c.3761-4208G>A (n.3761-4208G>A)
c.3621G>A (p.Glu1207=)
c.5535G>A (p.Glu1845=)
c.5259G>A (p.Glu1753=)
9g.115046550T>ACA374631024TNCc.318-4209A>T
c.3215-4209A>T (n.3215-4209A>T)
c.3896A>T (p.Glu1299Val)
c.1928A>T (p.Glu643Val)
c.584A>T (p.Glu195Val)
c.3943A>T
c.4985A>T (p.Glu1662Val)
c.4439A>T (p.Glu1480Val)
c.4307-4209A>T (n.4307-4209A>T)
n.303A>T
n.253-4209A>T
n.40-4209A>T
c.672A>T
c.4712A>T (p.Glu1571Val)
c.4034-4209A>T (n.4034-4209A>T)
c.3347A>T (p.Glu1116Val)
c.5261A>T (p.Glu1754Val)
c.3488-4209A>T (n.3488-4209A>T)
c.4988A>T (p.Glu1663Val)
c.4442A>T (p.Glu1481Val)
c.4580-4209A>T (n.4580-4209A>T)
c.4169A>T (p.Glu1390Val)
c.3761-4209A>T (n.3761-4209A>T)
c.3620A>T (p.Glu1207Val)
c.5534A>T (p.Glu1845Val)
c.5258A>T (p.Glu1753Val)
9g.115046550T>CCA374631025TNCc.318-4209A>G
c.3215-4209A>G (n.3215-4209A>G)
c.3896A>G (p.Glu1299Gly)
c.1928A>G (p.Glu643Gly)
c.584A>G (p.Glu195Gly)
c.3943A>G
c.4985A>G (p.Glu1662Gly)
c.4439A>G (p.Glu1480Gly)
c.4307-4209A>G (n.4307-4209A>G)
n.303A>G
n.253-4209A>G
n.40-4209A>G
c.672A>G
c.4712A>G (p.Glu1571Gly)
c.4034-4209A>G (n.4034-4209A>G)
c.3347A>G (p.Glu1116Gly)
c.5261A>G (p.Glu1754Gly)
c.3488-4209A>G (n.3488-4209A>G)
c.4988A>G (p.Glu1663Gly)
c.4442A>G (p.Glu1481Gly)
c.4580-4209A>G (n.4580-4209A>G)
c.4169A>G (p.Glu1390Gly)
c.3761-4209A>G (n.3761-4209A>G)
c.3620A>G (p.Glu1207Gly)
c.5534A>G (p.Glu1845Gly)
c.5258A>G (p.Glu1753Gly)
9g.115046550T>GCA374631027TNCc.318-4209A>C
c.3215-4209A>C (n.3215-4209A>C)
c.3896A>C (p.Glu1299Ala)
c.1928A>C (p.Glu643Ala)
c.584A>C (p.Glu195Ala)
c.3943A>C
c.4985A>C (p.Glu1662Ala)
c.4439A>C (p.Glu1480Ala)
c.4307-4209A>C (n.4307-4209A>C)
n.303A>C
n.253-4209A>C
n.40-4209A>C
c.672A>C
c.4712A>C (p.Glu1571Ala)
c.4034-4209A>C (n.4034-4209A>C)
c.3347A>C (p.Glu1116Ala)
c.5261A>C (p.Glu1754Ala)
c.3488-4209A>C (n.3488-4209A>C)
c.4988A>C (p.Glu1663Ala)
c.4442A>C (p.Glu1481Ala)
c.4580-4209A>C (n.4580-4209A>C)
c.4169A>C (p.Glu1390Ala)
c.3761-4209A>C (n.3761-4209A>C)
c.3620A>C (p.Glu1207Ala)
c.5534A>C (p.Glu1845Ala)
c.5258A>C (p.Glu1753Ala)
9g.115046551C>ACA374631029TNCc.318-4210G>T
c.3215-4210G>T (n.3215-4210G>T)
c.3895G>T (p.Glu1299Ter)
c.1927G>T (p.Glu643Ter)
c.583G>T (p.Glu195Ter)
c.3942G>T
c.4984G>T (p.Glu1662Ter)
c.4438G>T (p.Glu1480Ter)
c.4307-4210G>T (n.4307-4210G>T)
n.302G>T
n.253-4210G>T
n.40-4210G>T
c.671G>T
c.4711G>T (p.Glu1571Ter)
c.4034-4210G>T (n.4034-4210G>T)
c.3346G>T (p.Glu1116Ter)
c.5260G>T (p.Glu1754Ter)
c.3488-4210G>T (n.3488-4210G>T)
c.4987G>T (p.Glu1663Ter)
c.4441G>T (p.Glu1481Ter)
c.4580-4210G>T (n.4580-4210G>T)
c.4168G>T (p.Glu1390Ter)
c.3761-4210G>T (n.3761-4210G>T)
c.3619G>T (p.Glu1207Ter)
c.5533G>T (p.Glu1845Ter)
c.5257G>T (p.Glu1753Ter)
9g.115046551C>GCA374631031TNCc.318-4210G>C
c.3215-4210G>C (n.3215-4210G>C)
c.3895G>C (p.Glu1299Gln)
c.1927G>C (p.Glu643Gln)
c.583G>C (p.Glu195Gln)
c.3942G>C
c.4984G>C (p.Glu1662Gln)
c.4438G>C (p.Glu1480Gln)
c.4307-4210G>C (n.4307-4210G>C)
n.302G>C
n.253-4210G>C
n.40-4210G>C
c.671G>C
c.4711G>C (p.Glu1571Gln)
c.4034-4210G>C (n.4034-4210G>C)
c.3346G>C (p.Glu1116Gln)
c.5260G>C (p.Glu1754Gln)
c.3488-4210G>C (n.3488-4210G>C)
c.4987G>C (p.Glu1663Gln)
c.4441G>C (p.Glu1481Gln)
c.4580-4210G>C (n.4580-4210G>C)
c.4168G>C (p.Glu1390Gln)
c.3761-4210G>C (n.3761-4210G>C)
c.3619G>C (p.Glu1207Gln)
c.5533G>C (p.Glu1845Gln)
c.5257G>C (p.Glu1753Gln)
9g.115046551C>TCA374631032TNCc.318-4210G>A
c.3215-4210G>A (n.3215-4210G>A)
c.3895G>A (p.Glu1299Lys)
c.1927G>A (p.Glu643Lys)
c.583G>A (p.Glu195Lys)
c.3942G>A
c.4984G>A (p.Glu1662Lys)
c.4438G>A (p.Glu1480Lys)
c.4307-4210G>A (n.4307-4210G>A)
n.302G>A
n.253-4210G>A
n.40-4210G>A
c.671G>A
c.4711G>A (p.Glu1571Lys)
c.4034-4210G>A (n.4034-4210G>A)
c.3346G>A (p.Glu1116Lys)
c.5260G>A (p.Glu1754Lys)
c.3488-4210G>A (n.3488-4210G>A)
c.4987G>A (p.Glu1663Lys)
c.4441G>A (p.Glu1481Lys)
c.4580-4210G>A (n.4580-4210G>A)
c.4168G>A (p.Glu1390Lys)
c.3761-4210G>A (n.3761-4210G>A)
c.3619G>A (p.Glu1207Lys)
c.5533G>A (p.Glu1845Lys)
c.5257G>A (p.Glu1753Lys)
 gnomAD v4
9g.115046552A>CCA466912473TNCc.318-4211T>G
c.3215-4211T>G (n.3215-4211T>G)
c.3894T>G (p.Ser1298=)
c.1926T>G (p.Ser642=)
c.582T>G (p.Ser194=)
c.3941T>G
c.4983T>G (p.Ser1661=)
c.4437T>G (p.Ser1479=)
c.4307-4211T>G (n.4307-4211T>G)
n.301T>G
n.253-4211T>G
n.40-4211T>G
c.670T>G
c.4710T>G (p.Ser1570=)
c.4034-4211T>G (n.4034-4211T>G)
c.3345T>G (p.Ser1115=)
c.5259T>G (p.Ser1753=)
c.3488-4211T>G (n.3488-4211T>G)
c.4986T>G (p.Ser1662=)
c.4440T>G (p.Ser1480=)
c.4580-4211T>G (n.4580-4211T>G)
c.4167T>G (p.Ser1389=)
c.3761-4211T>G (n.3761-4211T>G)
c.3618T>G (p.Ser1206=)
c.5532T>G (p.Ser1844=)
c.5256T>G (p.Ser1752=)
 COSMIC
9g.115046552A>GCA466912474TNCc.318-4211T>C
c.3215-4211T>C (n.3215-4211T>C)
c.3894T>C (p.Ser1298=)
c.1926T>C (p.Ser642=)
c.582T>C (p.Ser194=)
c.3941T>C
c.4983T>C (p.Ser1661=)
c.4437T>C (p.Ser1479=)
c.4307-4211T>C (n.4307-4211T>C)
n.301T>C
n.253-4211T>C
n.40-4211T>C
c.670T>C
c.4710T>C (p.Ser1570=)
c.4034-4211T>C (n.4034-4211T>C)
c.3345T>C (p.Ser1115=)
c.5259T>C (p.Ser1753=)
c.3488-4211T>C (n.3488-4211T>C)
c.4986T>C (p.Ser1662=)
c.4440T>C (p.Ser1480=)
c.4580-4211T>C (n.4580-4211T>C)
c.4167T>C (p.Ser1389=)
c.3761-4211T>C (n.3761-4211T>C)
c.3618T>C (p.Ser1206=)
c.5532T>C (p.Ser1844=)
c.5256T>C (p.Ser1752=)
9g.115046552A>TCA466912476TNCc.318-4211T>A
c.3215-4211T>A (n.3215-4211T>A)
c.3894T>A (p.Ser1298=)
c.1926T>A (p.Ser642=)
c.582T>A (p.Ser194=)
c.3941T>A
c.4983T>A (p.Ser1661=)
c.4437T>A (p.Ser1479=)
c.4307-4211T>A (n.4307-4211T>A)
n.301T>A
n.253-4211T>A
n.40-4211T>A
c.670T>A
c.4710T>A (p.Ser1570=)
c.4034-4211T>A (n.4034-4211T>A)
c.3345T>A (p.Ser1115=)
c.5259T>A (p.Ser1753=)
c.3488-4211T>A (n.3488-4211T>A)
c.4986T>A (p.Ser1662=)
c.4440T>A (p.Ser1480=)
c.4580-4211T>A (n.4580-4211T>A)
c.4167T>A (p.Ser1389=)
c.3761-4211T>A (n.3761-4211T>A)
c.3618T>A (p.Ser1206=)
c.5532T>A (p.Ser1844=)
c.5256T>A (p.Ser1752=)
9g.115046553G>ACA374631036TNCc.318-4212C>T
c.3215-4212C>T (n.3215-4212C>T)
c.3893C>T (p.Ser1298Phe)
c.1925C>T (p.Ser642Phe)
c.581C>T (p.Ser194Phe)
c.3940C>T
c.4982C>T (p.Ser1661Phe)
c.4436C>T (p.Ser1479Phe)
c.4307-4212C>T (n.4307-4212C>T)
n.300C>T
n.253-4212C>T
n.40-4212C>T
c.669C>T
c.4709C>T (p.Ser1570Phe)
c.4034-4212C>T (n.4034-4212C>T)
c.3344C>T (p.Ser1115Phe)
c.5258C>T (p.Ser1753Phe)
c.3488-4212C>T (n.3488-4212C>T)
c.4985C>T (p.Ser1662Phe)
c.4439C>T (p.Ser1480Phe)
c.4580-4212C>T (n.4580-4212C>T)
c.4166C>T (p.Ser1389Phe)
c.3761-4212C>T (n.3761-4212C>T)
c.3617C>T (p.Ser1206Phe)
c.5531C>T (p.Ser1844Phe)
c.5255C>T (p.Ser1752Phe)
9g.115046553G>CCA374631035TNCc.318-4212C>G
c.3215-4212C>G (n.3215-4212C>G)
c.3893C>G (p.Ser1298Cys)
c.1925C>G (p.Ser642Cys)
c.581C>G (p.Ser194Cys)
c.3940C>G
c.4982C>G (p.Ser1661Cys)
c.4436C>G (p.Ser1479Cys)
c.4307-4212C>G (n.4307-4212C>G)
n.300C>G
n.253-4212C>G
n.40-4212C>G
c.669C>G
c.4709C>G (p.Ser1570Cys)
c.4034-4212C>G (n.4034-4212C>G)
c.3344C>G (p.Ser1115Cys)
c.5258C>G (p.Ser1753Cys)
c.3488-4212C>G (n.3488-4212C>G)
c.4985C>G (p.Ser1662Cys)
c.4439C>G (p.Ser1480Cys)
c.4580-4212C>G (n.4580-4212C>G)
c.4166C>G (p.Ser1389Cys)
c.3761-4212C>G (n.3761-4212C>G)
c.3617C>G (p.Ser1206Cys)
c.5531C>G (p.Ser1844Cys)
c.5255C>G (p.Ser1752Cys)
9g.115046553G>TCA374631033TNCc.318-4212C>A
c.3215-4212C>A (n.3215-4212C>A)
c.3893C>A (p.Ser1298Tyr)
c.1925C>A (p.Ser642Tyr)
c.581C>A (p.Ser194Tyr)
c.3940C>A
c.4982C>A (p.Ser1661Tyr)
c.4436C>A (p.Ser1479Tyr)
c.4307-4212C>A (n.4307-4212C>A)
n.300C>A
n.253-4212C>A
n.40-4212C>A
c.669C>A
c.4709C>A (p.Ser1570Tyr)
c.4034-4212C>A (n.4034-4212C>A)
c.3344C>A (p.Ser1115Tyr)
c.5258C>A (p.Ser1753Tyr)
c.3488-4212C>A (n.3488-4212C>A)
c.4985C>A (p.Ser1662Tyr)
c.4439C>A (p.Ser1480Tyr)
c.4580-4212C>A (n.4580-4212C>A)
c.4166C>A (p.Ser1389Tyr)
c.3761-4212C>A (n.3761-4212C>A)
c.3617C>A (p.Ser1206Tyr)
c.5531C>A (p.Ser1844Tyr)
c.5255C>A (p.Ser1752Tyr)
9g.115046554A=CA1874118908TNCc.318-4213T=
c.3215-4213T= (n.3215-4213T=)
c.3892T= (p.Ser1298=)
c.1924T= (p.Ser642=)
c.580T= (p.Ser194=)
c.3939T=
c.4981T= (p.Ser1661=)
c.4435T= (p.Ser1479=)
c.4307-4213T= (n.4307-4213T=)
n.299T=
n.253-4213T=
n.40-4213T=
c.668T=
c.4708T= (p.Ser1570=)
c.4034-4213T= (n.4034-4213T=)
c.3343T= (p.Ser1115=)
c.5257T= (p.Ser1753=)
c.3488-4213T= (n.3488-4213T=)
c.4984T= (p.Ser1662=)
c.4438T= (p.Ser1480=)
c.4580-4213T= (n.4580-4213T=)
c.4165T= (p.Ser1389=)
c.3761-4213T= (n.3761-4213T=)
c.3616T= (p.Ser1206=)
c.5530T= (p.Ser1844=)
c.5254T= (p.Ser1752=)
9g.115046554A>CCA374631038TNCc.318-4213T>G
c.3215-4213T>G (n.3215-4213T>G)
c.3892T>G (p.Ser1298Ala)
c.1924T>G (p.Ser642Ala)
c.580T>G (p.Ser194Ala)
c.3939T>G
c.4981T>G (p.Ser1661Ala)
c.4435T>G (p.Ser1479Ala)
c.4307-4213T>G (n.4307-4213T>G)
n.299T>G
n.253-4213T>G
n.40-4213T>G
c.668T>G
c.4708T>G (p.Ser1570Ala)
c.4034-4213T>G (n.4034-4213T>G)
c.3343T>G (p.Ser1115Ala)
c.5257T>G (p.Ser1753Ala)
c.3488-4213T>G (n.3488-4213T>G)
c.4984T>G (p.Ser1662Ala)
c.4438T>G (p.Ser1480Ala)
c.4580-4213T>G (n.4580-4213T>G)
c.4165T>G (p.Ser1389Ala)
c.3761-4213T>G (n.3761-4213T>G)
c.3616T>G (p.Ser1206Ala)
c.5530T>G (p.Ser1844Ala)
c.5254T>G (p.Ser1752Ala)
9g.115046554A>GCA374631039TNCc.318-4213T>C
c.3215-4213T>C (n.3215-4213T>C)
c.3892T>C (p.Ser1298Pro)
c.1924T>C (p.Ser642Pro)
c.580T>C (p.Ser194Pro)
c.3939T>C
c.4981T>C (p.Ser1661Pro)
c.4435T>C (p.Ser1479Pro)
c.4307-4213T>C (n.4307-4213T>C)
n.299T>C
n.253-4213T>C
n.40-4213T>C
c.668T>C
c.4708T>C (p.Ser1570Pro)
c.4034-4213T>C (n.4034-4213T>C)
c.3343T>C (p.Ser1115Pro)
c.5257T>C (p.Ser1753Pro)
c.3488-4213T>C (n.3488-4213T>C)
c.4984T>C (p.Ser1662Pro)
c.4438T>C (p.Ser1480Pro)
c.4580-4213T>C (n.4580-4213T>C)
c.4165T>C (p.Ser1389Pro)
c.3761-4213T>C (n.3761-4213T>C)
c.3616T>C (p.Ser1206Pro)
c.5530T>C (p.Ser1844Pro)
c.5254T>C (p.Ser1752Pro)
9g.115046554A>TCA374631040TNCc.318-4213T>A
c.3215-4213T>A (n.3215-4213T>A)
c.3892T>A (p.Ser1298Thr)
c.1924T>A (p.Ser642Thr)
c.580T>A (p.Ser194Thr)
c.3939T>A
c.4981T>A (p.Ser1661Thr)
c.4435T>A (p.Ser1479Thr)
c.4307-4213T>A (n.4307-4213T>A)
n.299T>A
n.253-4213T>A
n.40-4213T>A
c.668T>A
c.4708T>A (p.Ser1570Thr)
c.4034-4213T>A (n.4034-4213T>A)
c.3343T>A (p.Ser1115Thr)
c.5257T>A (p.Ser1753Thr)
c.3488-4213T>A (n.3488-4213T>A)
c.4984T>A (p.Ser1662Thr)
c.4438T>A (p.Ser1480Thr)
c.4580-4213T>A (n.4580-4213T>A)
c.4165T>A (p.Ser1389Thr)
c.3761-4213T>A (n.3761-4213T>A)
c.3616T>A (p.Ser1206Thr)
c.5530T>A (p.Ser1844Thr)
c.5254T>A (p.Ser1752Thr)
 dbSNP
9g.115046555C>ACA374631042TNCc.318-4214G>T
c.3215-4214G>T (n.3215-4214G>T)
c.3891G>T (p.Gln1297His)
c.1923G>T (p.Gln641His)
c.579G>T (p.Gln193His)
c.3938G>T
c.4980G>T (p.Gln1660His)
c.4434G>T (p.Gln1478His)
c.4307-4214G>T (n.4307-4214G>T)
n.298G>T
n.253-4214G>T
n.40-4214G>T
c.667G>T
c.4707G>T (p.Gln1569His)
c.4034-4214G>T (n.4034-4214G>T)
c.3342G>T (p.Gln1114His)
c.5256G>T (p.Gln1752His)
c.3488-4214G>T (n.3488-4214G>T)
c.4983G>T (p.Gln1661His)
c.4437G>T (p.Gln1479His)
c.4580-4214G>T (n.4580-4214G>T)
c.4164G>T (p.Gln1388His)
c.3761-4214G>T (n.3761-4214G>T)
c.3615G>T (p.Gln1205His)
c.5529G>T (p.Gln1843His)
c.5253G>T (p.Gln1751His)
 gnomAD v4
9g.115046555C>GCA374631044TNCc.318-4214G>C
c.3215-4214G>C (n.3215-4214G>C)
c.3891G>C (p.Gln1297His)
c.1923G>C (p.Gln641His)
c.579G>C (p.Gln193His)
c.3938G>C
c.4980G>C (p.Gln1660His)
c.4434G>C (p.Gln1478His)
c.4307-4214G>C (n.4307-4214G>C)
n.298G>C
n.253-4214G>C
n.40-4214G>C
c.667G>C
c.4707G>C (p.Gln1569His)
c.4034-4214G>C (n.4034-4214G>C)
c.3342G>C (p.Gln1114His)
c.5256G>C (p.Gln1752His)
c.3488-4214G>C (n.3488-4214G>C)
c.4983G>C (p.Gln1661His)
c.4437G>C (p.Gln1479His)
c.4580-4214G>C (n.4580-4214G>C)
c.4164G>C (p.Gln1388His)
c.3761-4214G>C (n.3761-4214G>C)
c.3615G>C (p.Gln1205His)
c.5529G>C (p.Gln1843His)
c.5253G>C (p.Gln1751His)
 gnomAD v4
9g.115046555C>TCA466912478TNCc.318-4214G>A
c.3215-4214G>A (n.3215-4214G>A)
c.3891G>A (p.Gln1297=)
c.1923G>A (p.Gln641=)
c.579G>A (p.Gln193=)
c.3938G>A
c.4980G>A (p.Gln1660=)
c.4434G>A (p.Gln1478=)
c.4307-4214G>A (n.4307-4214G>A)
n.298G>A
n.253-4214G>A
n.40-4214G>A
c.667G>A
c.4707G>A (p.Gln1569=)
c.4034-4214G>A (n.4034-4214G>A)
c.3342G>A (p.Gln1114=)
c.5256G>A (p.Gln1752=)
c.3488-4214G>A (n.3488-4214G>A)
c.4983G>A (p.Gln1661=)
c.4437G>A (p.Gln1479=)
c.4580-4214G>A (n.4580-4214G>A)
c.4164G>A (p.Gln1388=)
c.3761-4214G>A (n.3761-4214G>A)
c.3615G>A (p.Gln1205=)
c.5529G>A (p.Gln1843=)
c.5253G>A (p.Gln1751=)
9g.115046556T>ACA374631046TNCc.318-4215A>T
c.3215-4215A>T (n.3215-4215A>T)
c.3890A>T (p.Gln1297Leu)
c.1922A>T (p.Gln641Leu)
c.578A>T (p.Gln193Leu)
c.3937A>T
c.4979A>T (p.Gln1660Leu)
c.4433A>T (p.Gln1478Leu)
c.4307-4215A>T (n.4307-4215A>T)
n.297A>T
n.253-4215A>T
n.40-4215A>T
c.666A>T
c.4706A>T (p.Gln1569Leu)
c.4034-4215A>T (n.4034-4215A>T)
c.3341A>T (p.Gln1114Leu)
c.5255A>T (p.Gln1752Leu)
c.3488-4215A>T (n.3488-4215A>T)
c.4982A>T (p.Gln1661Leu)
c.4436A>T (p.Gln1479Leu)
c.4580-4215A>T (n.4580-4215A>T)
c.4163A>T (p.Gln1388Leu)
c.3761-4215A>T (n.3761-4215A>T)
c.3614A>T (p.Gln1205Leu)
c.5528A>T (p.Gln1843Leu)
c.5252A>T (p.Gln1751Leu)
9g.115046556T>CCA374631048TNCc.318-4215A>G
c.3215-4215A>G (n.3215-4215A>G)
c.3890A>G (p.Gln1297Arg)
c.1922A>G (p.Gln641Arg)
c.578A>G (p.Gln193Arg)
c.3937A>G
c.4979A>G (p.Gln1660Arg)
c.4433A>G (p.Gln1478Arg)
c.4307-4215A>G (n.4307-4215A>G)
n.297A>G
n.253-4215A>G
n.40-4215A>G
c.666A>G
c.4706A>G (p.Gln1569Arg)
c.4034-4215A>G (n.4034-4215A>G)
c.3341A>G (p.Gln1114Arg)
c.5255A>G (p.Gln1752Arg)
c.3488-4215A>G (n.3488-4215A>G)
c.4982A>G (p.Gln1661Arg)
c.4436A>G (p.Gln1479Arg)
c.4580-4215A>G (n.4580-4215A>G)
c.4163A>G (p.Gln1388Arg)
c.3761-4215A>G (n.3761-4215A>G)
c.3614A>G (p.Gln1205Arg)
c.5528A>G (p.Gln1843Arg)
c.5252A>G (p.Gln1751Arg)
9g.115046556T>GCA374631049TNCc.318-4215A>C
c.3215-4215A>C (n.3215-4215A>C)
c.3890A>C (p.Gln1297Pro)
c.1922A>C (p.Gln641Pro)
c.578A>C (p.Gln193Pro)
c.3937A>C
c.4979A>C (p.Gln1660Pro)
c.4433A>C (p.Gln1478Pro)
c.4307-4215A>C (n.4307-4215A>C)
n.297A>C
n.253-4215A>C
n.40-4215A>C
c.666A>C
c.4706A>C (p.Gln1569Pro)
c.4034-4215A>C (n.4034-4215A>C)
c.3341A>C (p.Gln1114Pro)
c.5255A>C (p.Gln1752Pro)
c.3488-4215A>C (n.3488-4215A>C)
c.4982A>C (p.Gln1661Pro)
c.4436A>C (p.Gln1479Pro)
c.4580-4215A>C (n.4580-4215A>C)
c.4163A>C (p.Gln1388Pro)
c.3761-4215A>C (n.3761-4215A>C)
c.3614A>C (p.Gln1205Pro)
c.5528A>C (p.Gln1843Pro)
c.5252A>C (p.Gln1751Pro)
9g.115046557G>ACA374631051TNCc.318-4216C>T
c.3215-4216C>T (n.3215-4216C>T)
c.3889C>T (p.Gln1297Ter)
c.1921C>T (p.Gln641Ter)
c.577C>T (p.Gln193Ter)
c.3936C>T
c.4978C>T (p.Gln1660Ter)
c.4432C>T (p.Gln1478Ter)
c.4307-4216C>T (n.4307-4216C>T)
n.296C>T
n.253-4216C>T
n.40-4216C>T
c.665C>T
c.4705C>T (p.Gln1569Ter)
c.4034-4216C>T (n.4034-4216C>T)
c.3340C>T (p.Gln1114Ter)
c.5254C>T (p.Gln1752Ter)
c.3488-4216C>T (n.3488-4216C>T)
c.4981C>T (p.Gln1661Ter)
c.4435C>T (p.Gln1479Ter)
c.4580-4216C>T (n.4580-4216C>T)
c.4162C>T (p.Gln1388Ter)
c.3761-4216C>T (n.3761-4216C>T)
c.3613C>T (p.Gln1205Ter)
c.5527C>T (p.Gln1843Ter)
c.5251C>T (p.Gln1751Ter)
9g.115046557G>CCA374631053TNCc.318-4216C>G
c.3215-4216C>G (n.3215-4216C>G)
c.3889C>G (p.Gln1297Glu)
c.1921C>G (p.Gln641Glu)
c.577C>G (p.Gln193Glu)
c.3936C>G
c.4978C>G (p.Gln1660Glu)
c.4432C>G (p.Gln1478Glu)
c.4307-4216C>G (n.4307-4216C>G)
n.296C>G
n.253-4216C>G
n.40-4216C>G
c.665C>G
c.4705C>G (p.Gln1569Glu)
c.4034-4216C>G (n.4034-4216C>G)
c.3340C>G (p.Gln1114Glu)
c.5254C>G (p.Gln1752Glu)
c.3488-4216C>G (n.3488-4216C>G)
c.4981C>G (p.Gln1661Glu)
c.4435C>G (p.Gln1479Glu)
c.4580-4216C>G (n.4580-4216C>G)
c.4162C>G (p.Gln1388Glu)
c.3761-4216C>G (n.3761-4216C>G)
c.3613C>G (p.Gln1205Glu)
c.5527C>G (p.Gln1843Glu)
c.5251C>G (p.Gln1751Glu)
9g.115046557G>TCA374631054TNCc.318-4216C>A
c.3215-4216C>A (n.3215-4216C>A)
c.3889C>A (p.Gln1297Lys)
c.1921C>A (p.Gln641Lys)
c.577C>A (p.Gln193Lys)
c.3936C>A
c.4978C>A (p.Gln1660Lys)
c.4432C>A (p.Gln1478Lys)
c.4307-4216C>A (n.4307-4216C>A)
n.296C>A
n.253-4216C>A
n.40-4216C>A
c.665C>A
c.4705C>A (p.Gln1569Lys)
c.4034-4216C>A (n.4034-4216C>A)
c.3340C>A (p.Gln1114Lys)
c.5254C>A (p.Gln1752Lys)
c.3488-4216C>A (n.3488-4216C>A)
c.4981C>A (p.Gln1661Lys)
c.4435C>A (p.Gln1479Lys)
c.4580-4216C>A (n.4580-4216C>A)
c.4162C>A (p.Gln1388Lys)
c.3761-4216C>A (n.3761-4216C>A)
c.3613C>A (p.Gln1205Lys)
c.5527C>A (p.Gln1843Lys)
c.5251C>A (p.Gln1751Lys)
9g.115046558C>ACA198692626TNCc.318-4217G>T
c.3215-4217G>T (n.3215-4217G>T)
c.3888G>T (p.Lys1296Asn)
c.1920G>T (p.Lys640Asn)
c.576G>T (p.Lys192Asn)
c.3935G>T
c.4977G>T (p.Lys1659Asn)
c.4431G>T (p.Lys1477Asn)
c.4307-4217G>T (n.4307-4217G>T)
n.295G>T
n.253-4217G>T
n.40-4217G>T
c.664G>T
c.4704G>T (p.Lys1568Asn)
c.4034-4217G>T (n.4034-4217G>T)
c.3339G>T (p.Lys1113Asn)
c.5253G>T (p.Lys1751Asn)
c.3488-4217G>T (n.3488-4217G>T)
c.4980G>T (p.Lys1660Asn)
c.4434G>T (p.Lys1478Asn)
c.4580-4217G>T (n.4580-4217G>T)
c.4161G>T (p.Lys1387Asn)
c.3761-4217G>T (n.3761-4217G>T)
c.3612G>T (p.Lys1204Asn)
c.5526G>T (p.Lys1842Asn)
c.5250G>T (p.Lys1750Asn)
 dbSNP gnomAD v4
9g.115046558C=CA1874118909TNCc.318-4217G=
c.3215-4217G= (n.3215-4217G=)
c.3888G= (p.Lys1296=)
c.1920G= (p.Lys640=)
c.576G= (p.Lys192=)
c.3935G=
c.4977G= (p.Lys1659=)
c.4431G= (p.Lys1477=)
c.4307-4217G= (n.4307-4217G=)
n.295G=
n.253-4217G=
n.40-4217G=
c.664G=
c.4704G= (p.Lys1568=)
c.4034-4217G= (n.4034-4217G=)
c.3339G= (p.Lys1113=)
c.5253G= (p.Lys1751=)
c.3488-4217G= (n.3488-4217G=)
c.4980G= (p.Lys1660=)
c.4434G= (p.Lys1478=)
c.4580-4217G= (n.4580-4217G=)
c.4161G= (p.Lys1387=)
c.3761-4217G= (n.3761-4217G=)
c.3612G= (p.Lys1204=)
c.5526G= (p.Lys1842=)
c.5250G= (p.Lys1750=)
9g.115046558C>GCA374631057TNCc.318-4217G>C
c.3215-4217G>C (n.3215-4217G>C)
c.3888G>C (p.Lys1296Asn)
c.1920G>C (p.Lys640Asn)
c.576G>C (p.Lys192Asn)
c.3935G>C
c.4977G>C (p.Lys1659Asn)
c.4431G>C (p.Lys1477Asn)
c.4307-4217G>C (n.4307-4217G>C)
n.295G>C
n.253-4217G>C
n.40-4217G>C
c.664G>C
c.4704G>C (p.Lys1568Asn)
c.4034-4217G>C (n.4034-4217G>C)
c.3339G>C (p.Lys1113Asn)
c.5253G>C (p.Lys1751Asn)
c.3488-4217G>C (n.3488-4217G>C)
c.4980G>C (p.Lys1660Asn)
c.4434G>C (p.Lys1478Asn)
c.4580-4217G>C (n.4580-4217G>C)
c.4161G>C (p.Lys1387Asn)
c.3761-4217G>C (n.3761-4217G>C)
c.3612G>C (p.Lys1204Asn)
c.5526G>C (p.Lys1842Asn)
c.5250G>C (p.Lys1750Asn)
9g.115046558C>TCA466912480TNCc.318-4217G>A
c.3215-4217G>A (n.3215-4217G>A)
c.3888G>A (p.Lys1296=)
c.1920G>A (p.Lys640=)
c.576G>A (p.Lys192=)
c.3935G>A
c.4977G>A (p.Lys1659=)
c.4431G>A (p.Lys1477=)
c.4307-4217G>A (n.4307-4217G>A)
n.295G>A
n.253-4217G>A
n.40-4217G>A
c.664G>A
c.4704G>A (p.Lys1568=)
c.4034-4217G>A (n.4034-4217G>A)
c.3339G>A (p.Lys1113=)
c.5253G>A (p.Lys1751=)
c.3488-4217G>A (n.3488-4217G>A)
c.4980G>A (p.Lys1660=)
c.4434G>A (p.Lys1478=)
c.4580-4217G>A (n.4580-4217G>A)
c.4161G>A (p.Lys1387=)
c.3761-4217G>A (n.3761-4217G>A)
c.3612G>A (p.Lys1204=)
c.5526G>A (p.Lys1842=)
c.5250G>A (p.Lys1750=)
 gnomAD v4
9g.115046559T>ACA374631060TNCc.318-4218A>T
c.3215-4218A>T (n.3215-4218A>T)
c.3887A>T (p.Lys1296Met)
c.1919A>T (p.Lys640Met)
c.575A>T (p.Lys192Met)
c.3934A>T
c.4976A>T (p.Lys1659Met)
c.4430A>T (p.Lys1477Met)
c.4307-4218A>T (n.4307-4218A>T)
n.294A>T
n.253-4218A>T
n.40-4218A>T
c.663A>T
c.4703A>T (p.Lys1568Met)
c.4034-4218A>T (n.4034-4218A>T)
c.3338A>T (p.Lys1113Met)
c.5252A>T (p.Lys1751Met)
c.3488-4218A>T (n.3488-4218A>T)
c.4979A>T (p.Lys1660Met)
c.4433A>T (p.Lys1478Met)
c.4580-4218A>T (n.4580-4218A>T)
c.4160A>T (p.Lys1387Met)
c.3761-4218A>T (n.3761-4218A>T)
c.3611A>T (p.Lys1204Met)
c.5525A>T (p.Lys1842Met)
c.5249A>T (p.Lys1750Met)
9g.115046559T>CCA374631062TNCc.318-4218A>G
c.3215-4218A>G (n.3215-4218A>G)
c.3887A>G (p.Lys1296Arg)
c.1919A>G (p.Lys640Arg)
c.575A>G (p.Lys192Arg)
c.3934A>G
c.4976A>G (p.Lys1659Arg)
c.4430A>G (p.Lys1477Arg)
c.4307-4218A>G (n.4307-4218A>G)
n.294A>G
n.253-4218A>G
n.40-4218A>G
c.663A>G
c.4703A>G (p.Lys1568Arg)
c.4034-4218A>G (n.4034-4218A>G)
c.3338A>G (p.Lys1113Arg)
c.5252A>G (p.Lys1751Arg)
c.3488-4218A>G (n.3488-4218A>G)
c.4979A>G (p.Lys1660Arg)
c.4433A>G (p.Lys1478Arg)
c.4580-4218A>G (n.4580-4218A>G)
c.4160A>G (p.Lys1387Arg)
c.3761-4218A>G (n.3761-4218A>G)
c.3611A>G (p.Lys1204Arg)
c.5525A>G (p.Lys1842Arg)
c.5249A>G (p.Lys1750Arg)
9g.115046559T>GCA374631058TNCc.318-4218A>C
c.3215-4218A>C (n.3215-4218A>C)
c.3887A>C (p.Lys1296Thr)
c.1919A>C (p.Lys640Thr)
c.575A>C (p.Lys192Thr)
c.3934A>C
c.4976A>C (p.Lys1659Thr)
c.4430A>C (p.Lys1477Thr)
c.4307-4218A>C (n.4307-4218A>C)
n.294A>C
n.253-4218A>C
n.40-4218A>C
c.663A>C
c.4703A>C (p.Lys1568Thr)
c.4034-4218A>C (n.4034-4218A>C)
c.3338A>C (p.Lys1113Thr)
c.5252A>C (p.Lys1751Thr)
c.3488-4218A>C (n.3488-4218A>C)
c.4979A>C (p.Lys1660Thr)
c.4433A>C (p.Lys1478Thr)
c.4580-4218A>C (n.4580-4218A>C)
c.4160A>C (p.Lys1387Thr)
c.3761-4218A>C (n.3761-4218A>C)
c.3611A>C (p.Lys1204Thr)
c.5525A>C (p.Lys1842Thr)
c.5249A>C (p.Lys1750Thr)
9g.115046560T>ACA374631064TNCc.318-4219A>T
c.3215-4219A>T (n.3215-4219A>T)
c.3886A>T (p.Lys1296Ter)
c.1918A>T (p.Lys640Ter)
c.574A>T (p.Lys192Ter)
c.3933A>T
c.4975A>T (p.Lys1659Ter)
c.4429A>T (p.Lys1477Ter)
c.4307-4219A>T (n.4307-4219A>T)
n.293A>T
n.253-4219A>T
n.40-4219A>T
c.662A>T
c.4702A>T (p.Lys1568Ter)
c.4034-4219A>T (n.4034-4219A>T)
c.3337A>T (p.Lys1113Ter)
c.5251A>T (p.Lys1751Ter)
c.3488-4219A>T (n.3488-4219A>T)
c.4978A>T (p.Lys1660Ter)
c.4432A>T (p.Lys1478Ter)
c.4580-4219A>T (n.4580-4219A>T)
c.4159A>T (p.Lys1387Ter)
c.3761-4219A>T (n.3761-4219A>T)
c.3610A>T (p.Lys1204Ter)
c.5524A>T (p.Lys1842Ter)
c.5248A>T (p.Lys1750Ter)
9g.115046560T>CCA374631065TNCc.318-4219A>G
c.3215-4219A>G (n.3215-4219A>G)
c.3886A>G (p.Lys1296Glu)
c.1918A>G (p.Lys640Glu)
c.574A>G (p.Lys192Glu)
c.3933A>G
c.4975A>G (p.Lys1659Glu)
c.4429A>G (p.Lys1477Glu)
c.4307-4219A>G (n.4307-4219A>G)
n.293A>G
n.253-4219A>G
n.40-4219A>G
c.662A>G
c.4702A>G (p.Lys1568Glu)
c.4034-4219A>G (n.4034-4219A>G)
c.3337A>G (p.Lys1113Glu)
c.5251A>G (p.Lys1751Glu)
c.3488-4219A>G (n.3488-4219A>G)
c.4978A>G (p.Lys1660Glu)
c.4432A>G (p.Lys1478Glu)
c.4580-4219A>G (n.4580-4219A>G)
c.4159A>G (p.Lys1387Glu)
c.3761-4219A>G (n.3761-4219A>G)
c.3610A>G (p.Lys1204Glu)
c.5524A>G (p.Lys1842Glu)
c.5248A>G (p.Lys1750Glu)
9g.115046560T>GCA374631067TNCc.318-4219A>C
c.3215-4219A>C (n.3215-4219A>C)
c.3886A>C (p.Lys1296Gln)
c.1918A>C (p.Lys640Gln)
c.574A>C (p.Lys192Gln)
c.3933A>C
c.4975A>C (p.Lys1659Gln)
c.4429A>C (p.Lys1477Gln)
c.4307-4219A>C (n.4307-4219A>C)
n.293A>C
n.253-4219A>C
n.40-4219A>C
c.662A>C
c.4702A>C (p.Lys1568Gln)
c.4034-4219A>C (n.4034-4219A>C)
c.3337A>C (p.Lys1113Gln)
c.5251A>C (p.Lys1751Gln)
c.3488-4219A>C (n.3488-4219A>C)
c.4978A>C (p.Lys1660Gln)
c.4432A>C (p.Lys1478Gln)
c.4580-4219A>C (n.4580-4219A>C)
c.4159A>C (p.Lys1387Gln)
c.3761-4219A>C (n.3761-4219A>C)
c.3610A>C (p.Lys1204Gln)
c.5524A>C (p.Lys1842Gln)
c.5248A>C (p.Lys1750Gln)
9g.115046561T>ACA374631069TNCc.318-4220A>T
c.3215-4220A>T (n.3215-4220A>T)
c.3885A>T (p.Lys1295Asn)
c.1917A>T (p.Lys639Asn)
c.573A>T (p.Lys191Asn)
c.3932A>T
c.4974A>T (p.Lys1658Asn)
c.4428A>T (p.Lys1476Asn)
c.4307-4220A>T (n.4307-4220A>T)
n.292A>T
n.253-4220A>T
n.40-4220A>T
c.661A>T
c.4701A>T (p.Lys1567Asn)
c.4034-4220A>T (n.4034-4220A>T)
c.3336A>T (p.Lys1112Asn)
c.5250A>T (p.Lys1750Asn)
c.3488-4220A>T (n.3488-4220A>T)
c.4977A>T (p.Lys1659Asn)
c.4431A>T (p.Lys1477Asn)
c.4580-4220A>T (n.4580-4220A>T)
c.4158A>T (p.Lys1386Asn)
c.3761-4220A>T (n.3761-4220A>T)
c.3609A>T (p.Lys1203Asn)
c.5523A>T (p.Lys1841Asn)
c.5247A>T (p.Lys1749Asn)
9g.115046561T>CCA466912481TNCc.318-4220A>G
c.3215-4220A>G (n.3215-4220A>G)
c.3885A>G (p.Lys1295=)
c.1917A>G (p.Lys639=)
c.573A>G (p.Lys191=)
c.3932A>G
c.4974A>G (p.Lys1658=)
c.4428A>G (p.Lys1476=)
c.4307-4220A>G (n.4307-4220A>G)
n.292A>G
n.253-4220A>G
n.40-4220A>G
c.661A>G
c.4701A>G (p.Lys1567=)
c.4034-4220A>G (n.4034-4220A>G)
c.3336A>G (p.Lys1112=)
c.5250A>G (p.Lys1750=)
c.3488-4220A>G (n.3488-4220A>G)
c.4977A>G (p.Lys1659=)
c.4431A>G (p.Lys1477=)
c.4580-4220A>G (n.4580-4220A>G)
c.4158A>G (p.Lys1386=)
c.3761-4220A>G (n.3761-4220A>G)
c.3609A>G (p.Lys1203=)
c.5523A>G (p.Lys1841=)
c.5247A>G (p.Lys1749=)
9g.115046561T>GCA374631071TNCc.318-4220A>C
c.3215-4220A>C (n.3215-4220A>C)
c.3885A>C (p.Lys1295Asn)
c.1917A>C (p.Lys639Asn)
c.573A>C (p.Lys191Asn)
c.3932A>C
c.4974A>C (p.Lys1658Asn)
c.4428A>C (p.Lys1476Asn)
c.4307-4220A>C (n.4307-4220A>C)
n.292A>C
n.253-4220A>C
n.40-4220A>C
c.661A>C
c.4701A>C (p.Lys1567Asn)
c.4034-4220A>C (n.4034-4220A>C)
c.3336A>C (p.Lys1112Asn)
c.5250A>C (p.Lys1750Asn)
c.3488-4220A>C (n.3488-4220A>C)
c.4977A>C (p.Lys1659Asn)
c.4431A>C (p.Lys1477Asn)
c.4580-4220A>C (n.4580-4220A>C)
c.4158A>C (p.Lys1386Asn)
c.3761-4220A>C (n.3761-4220A>C)
c.3609A>C (p.Lys1203Asn)
c.5523A>C (p.Lys1841Asn)
c.5247A>C (p.Lys1749Asn)
9g.115046562T>ACA374631072TNCc.318-4221A>T
c.3215-4221A>T (n.3215-4221A>T)
c.3884A>T (p.Lys1295Ile)
c.1916A>T (p.Lys639Ile)
c.572A>T (p.Lys191Ile)
c.3931A>T
c.4973A>T (p.Lys1658Ile)
c.4427A>T (p.Lys1476Ile)
c.4307-4221A>T (n.4307-4221A>T)
n.291A>T
n.253-4221A>T
n.40-4221A>T
c.660A>T
c.4700A>T (p.Lys1567Ile)
c.4034-4221A>T (n.4034-4221A>T)
c.3335A>T (p.Lys1112Ile)
c.5249A>T (p.Lys1750Ile)
c.3488-4221A>T (n.3488-4221A>T)
c.4976A>T (p.Lys1659Ile)
c.4430A>T (p.Lys1477Ile)
c.4580-4221A>T (n.4580-4221A>T)
c.4157A>T (p.Lys1386Ile)
c.3761-4221A>T (n.3761-4221A>T)
c.3608A>T (p.Lys1203Ile)
c.5522A>T (p.Lys1841Ile)
c.5246A>T (p.Lys1749Ile)
9g.115046562T>CCA374631074TNCc.318-4221A>G
c.3215-4221A>G (n.3215-4221A>G)
c.3884A>G (p.Lys1295Arg)
c.1916A>G (p.Lys639Arg)
c.572A>G (p.Lys191Arg)
c.3931A>G
c.4973A>G (p.Lys1658Arg)
c.4427A>G (p.Lys1476Arg)
c.4307-4221A>G (n.4307-4221A>G)
n.291A>G
n.253-4221A>G
n.40-4221A>G
c.660A>G
c.4700A>G (p.Lys1567Arg)
c.4034-4221A>G (n.4034-4221A>G)
c.3335A>G (p.Lys1112Arg)
c.5249A>G (p.Lys1750Arg)
c.3488-4221A>G (n.3488-4221A>G)
c.4976A>G (p.Lys1659Arg)
c.4430A>G (p.Lys1477Arg)
c.4580-4221A>G (n.4580-4221A>G)
c.4157A>G (p.Lys1386Arg)
c.3761-4221A>G (n.3761-4221A>G)
c.3608A>G (p.Lys1203Arg)
c.5522A>G (p.Lys1841Arg)
c.5246A>G (p.Lys1749Arg)
9g.115046562T>GCA374631076TNCc.318-4221A>C
c.3215-4221A>C (n.3215-4221A>C)
c.3884A>C (p.Lys1295Thr)
c.1916A>C (p.Lys639Thr)
c.572A>C (p.Lys191Thr)
c.3931A>C
c.4973A>C (p.Lys1658Thr)
c.4427A>C (p.Lys1476Thr)
c.4307-4221A>C (n.4307-4221A>C)
n.291A>C
n.253-4221A>C
n.40-4221A>C
c.660A>C
c.4700A>C (p.Lys1567Thr)
c.4034-4221A>C (n.4034-4221A>C)
c.3335A>C (p.Lys1112Thr)
c.5249A>C (p.Lys1750Thr)
c.3488-4221A>C (n.3488-4221A>C)
c.4976A>C (p.Lys1659Thr)
c.4430A>C (p.Lys1477Thr)
c.4580-4221A>C (n.4580-4221A>C)
c.4157A>C (p.Lys1386Thr)
c.3761-4221A>C (n.3761-4221A>C)
c.3608A>C (p.Lys1203Thr)
c.5522A>C (p.Lys1841Thr)
c.5246A>C (p.Lys1749Thr)
9g.115046563T>ACA374631078TNCc.318-4222A>T
c.3215-4222A>T (n.3215-4222A>T)
c.3883A>T (p.Lys1295Ter)
c.1915A>T (p.Lys639Ter)
c.571A>T (p.Lys191Ter)
c.3930A>T
c.4972A>T (p.Lys1658Ter)
c.4426A>T (p.Lys1476Ter)
c.4307-4222A>T (n.4307-4222A>T)
n.290A>T
n.253-4222A>T
n.40-4222A>T
c.659A>T
c.4699A>T (p.Lys1567Ter)
c.4034-4222A>T (n.4034-4222A>T)
c.3334A>T (p.Lys1112Ter)
c.5248A>T (p.Lys1750Ter)
c.3488-4222A>T (n.3488-4222A>T)
c.4975A>T (p.Lys1659Ter)
c.4429A>T (p.Lys1477Ter)
c.4580-4222A>T (n.4580-4222A>T)
c.4156A>T (p.Lys1386Ter)
c.3761-4222A>T (n.3761-4222A>T)
c.3607A>T (p.Lys1203Ter)
c.5521A>T (p.Lys1841Ter)
c.5245A>T (p.Lys1749Ter)
9g.115046563T>CCA374631079TNCc.318-4222A>G
c.3215-4222A>G (n.3215-4222A>G)
c.3883A>G (p.Lys1295Glu)
c.1915A>G (p.Lys639Glu)
c.571A>G (p.Lys191Glu)
c.3930A>G
c.4972A>G (p.Lys1658Glu)
c.4426A>G (p.Lys1476Glu)
c.4307-4222A>G (n.4307-4222A>G)
n.290A>G
n.253-4222A>G
n.40-4222A>G
c.659A>G
c.4699A>G (p.Lys1567Glu)
c.4034-4222A>G (n.4034-4222A>G)
c.3334A>G (p.Lys1112Glu)
c.5248A>G (p.Lys1750Glu)
c.3488-4222A>G (n.3488-4222A>G)
c.4975A>G (p.Lys1659Glu)
c.4429A>G (p.Lys1477Glu)
c.4580-4222A>G (n.4580-4222A>G)
c.4156A>G (p.Lys1386Glu)
c.3761-4222A>G (n.3761-4222A>G)
c.3607A>G (p.Lys1203Glu)
c.5521A>G (p.Lys1841Glu)
c.5245A>G (p.Lys1749Glu)
9g.115046563T>GCA374631081TNCc.318-4222A>C
c.3215-4222A>C (n.3215-4222A>C)
c.3883A>C (p.Lys1295Gln)
c.1915A>C (p.Lys639Gln)
c.571A>C (p.Lys191Gln)
c.3930A>C
c.4972A>C (p.Lys1658Gln)
c.4426A>C (p.Lys1476Gln)
c.4307-4222A>C (n.4307-4222A>C)
n.290A>C
n.253-4222A>C
n.40-4222A>C
c.659A>C
c.4699A>C (p.Lys1567Gln)
c.4034-4222A>C (n.4034-4222A>C)
c.3334A>C (p.Lys1112Gln)
c.5248A>C (p.Lys1750Gln)
c.3488-4222A>C (n.3488-4222A>C)
c.4975A>C (p.Lys1659Gln)
c.4429A>C (p.Lys1477Gln)
c.4580-4222A>C (n.4580-4222A>C)
c.4156A>C (p.Lys1386Gln)
c.3761-4222A>C (n.3761-4222A>C)
c.3607A>C (p.Lys1203Gln)
c.5521A>C (p.Lys1841Gln)
c.5245A>C (p.Lys1749Gln)
9g.115046564G>ACA466912482TNCc.318-4223C>T
c.3215-4223C>T (n.3215-4223C>T)
c.3882C>T (p.Thr1294=)
c.1914C>T (p.Thr638=)
c.570C>T (p.Thr190=)
c.3929C>T
c.4971C>T (p.Thr1657=)
c.4425C>T (p.Thr1475=)
c.4307-4223C>T (n.4307-4223C>T)
n.289C>T
n.253-4223C>T
n.40-4223C>T
c.658C>T
c.4698C>T (p.Thr1566=)
c.4034-4223C>T (n.4034-4223C>T)
c.3333C>T (p.Thr1111=)
c.5247C>T (p.Thr1749=)
c.3488-4223C>T (n.3488-4223C>T)
c.4974C>T (p.Thr1658=)
c.4428C>T (p.Thr1476=)
c.4580-4223C>T (n.4580-4223C>T)
c.4155C>T (p.Thr1385=)
c.3761-4223C>T (n.3761-4223C>T)
c.3606C>T (p.Thr1202=)
c.5520C>T (p.Thr1840=)
c.5244C>T (p.Thr1748=)
 gnomAD v3 gnomAD v4
9g.115046564G>CCA198692634TNCc.318-4223C>G
c.3215-4223C>G (n.3215-4223C>G)
c.3882C>G (p.Thr1294=)
c.1914C>G (p.Thr638=)
c.570C>G (p.Thr190=)
c.3929C>G
c.4971C>G (p.Thr1657=)
c.4425C>G (p.Thr1475=)
c.4307-4223C>G (n.4307-4223C>G)
n.289C>G
n.253-4223C>G
n.40-4223C>G
c.658C>G
c.4698C>G (p.Thr1566=)
c.4034-4223C>G (n.4034-4223C>G)
c.3333C>G (p.Thr1111=)
c.5247C>G (p.Thr1749=)
c.3488-4223C>G (n.3488-4223C>G)
c.4974C>G (p.Thr1658=)
c.4428C>G (p.Thr1476=)
c.4580-4223C>G (n.4580-4223C>G)
c.4155C>G (p.Thr1385=)
c.3761-4223C>G (n.3761-4223C>G)
c.3606C>G (p.Thr1202=)
c.5520C>G (p.Thr1840=)
c.5244C>G (p.Thr1748=)
 dbSNP
9g.115046564G=CA1874118910TNCc.318-4223C=
c.3215-4223C= (n.3215-4223C=)
c.3882C= (p.Thr1294=)
c.1914C= (p.Thr638=)
c.570C= (p.Thr190=)
c.3929C=
c.4971C= (p.Thr1657=)
c.4425C= (p.Thr1475=)
c.4307-4223C= (n.4307-4223C=)
n.289C=
n.253-4223C=
n.40-4223C=
c.658C=
c.4698C= (p.Thr1566=)
c.4034-4223C= (n.4034-4223C=)
c.3333C= (p.Thr1111=)
c.5247C= (p.Thr1749=)
c.3488-4223C= (n.3488-4223C=)
c.4974C= (p.Thr1658=)
c.4428C= (p.Thr1476=)
c.4580-4223C= (n.4580-4223C=)
c.4155C= (p.Thr1385=)
c.3761-4223C= (n.3761-4223C=)
c.3606C= (p.Thr1202=)
c.5520C= (p.Thr1840=)
c.5244C= (p.Thr1748=)
9g.115046564G>TCA5207776TNCc.318-4223C>A
c.3215-4223C>A (n.3215-4223C>A)
c.3882C>A (p.Thr1294=)
c.1914C>A (p.Thr638=)
c.570C>A (p.Thr190=)
c.3929C>A
c.4971C>A (p.Thr1657=)
c.4425C>A (p.Thr1475=)
c.4307-4223C>A (n.4307-4223C>A)
n.289C>A
n.253-4223C>A
n.40-4223C>A
c.658C>A
c.4698C>A (p.Thr1566=)
c.4034-4223C>A (n.4034-4223C>A)
c.3333C>A (p.Thr1111=)
c.5247C>A (p.Thr1749=)
c.3488-4223C>A (n.3488-4223C>A)
c.4974C>A (p.Thr1658=)
c.4428C>A (p.Thr1476=)
c.4580-4223C>A (n.4580-4223C>A)
c.4155C>A (p.Thr1385=)
c.3761-4223C>A (n.3761-4223C>A)
c.3606C>A (p.Thr1202=)
c.5520C>A (p.Thr1840=)
c.5244C>A (p.Thr1748=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115046565G>ACA5207777TNCc.318-4224C>T
c.3215-4224C>T (n.3215-4224C>T)
c.3881C>T (p.Thr1294Ile)
c.1913C>T (p.Thr638Ile)
c.569C>T (p.Thr190Ile)
c.3928C>T
c.4970C>T (p.Thr1657Ile)
c.4424C>T (p.Thr1475Ile)
c.4307-4224C>T (n.4307-4224C>T)
n.288C>T
n.253-4224C>T
n.40-4224C>T
c.657C>T
c.4697C>T (p.Thr1566Ile)
c.4034-4224C>T (n.4034-4224C>T)
c.3332C>T (p.Thr1111Ile)
c.5246C>T (p.Thr1749Ile)
c.3488-4224C>T (n.3488-4224C>T)
c.4973C>T (p.Thr1658Ile)
c.4427C>T (p.Thr1476Ile)
c.4580-4224C>T (n.4580-4224C>T)
c.4154C>T (p.Thr1385Ile)
c.3761-4224C>T (n.3761-4224C>T)
c.3605C>T (p.Thr1202Ile)
c.5519C>T (p.Thr1840Ile)
c.5243C>T (p.Thr1748Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.115046565G>CCA374631084TNCc.318-4224C>G
c.3215-4224C>G (n.3215-4224C>G)
c.3881C>G (p.Thr1294Ser)
c.1913C>G (p.Thr638Ser)
c.569C>G (p.Thr190Ser)
c.3928C>G
c.4970C>G (p.Thr1657Ser)
c.4424C>G (p.Thr1475Ser)
c.4307-4224C>G (n.4307-4224C>G)
n.288C>G
n.253-4224C>G
n.40-4224C>G
c.657C>G
c.4697C>G (p.Thr1566Ser)
c.4034-4224C>G (n.4034-4224C>G)
c.3332C>G (p.Thr1111Ser)
c.5246C>G (p.Thr1749Ser)
c.3488-4224C>G (n.3488-4224C>G)
c.4973C>G (p.Thr1658Ser)
c.4427C>G (p.Thr1476Ser)
c.4580-4224C>G (n.4580-4224C>G)
c.4154C>G (p.Thr1385Ser)
c.3761-4224C>G (n.3761-4224C>G)
c.3605C>G (p.Thr1202Ser)
c.5519C>G (p.Thr1840Ser)
c.5243C>G (p.Thr1748Ser)
 gnomAD v4
9g.115046565G=CA1874118911TNCc.318-4224C=
c.3215-4224C= (n.3215-4224C=)
c.3881C= (p.Thr1294=)
c.1913C= (p.Thr638=)
c.569C= (p.Thr190=)
c.3928C=
c.4970C= (p.Thr1657=)
c.4424C= (p.Thr1475=)
c.4307-4224C= (n.4307-4224C=)
n.288C=
n.253-4224C=
n.40-4224C=
c.657C=
c.4697C= (p.Thr1566=)
c.4034-4224C= (n.4034-4224C=)
c.3332C= (p.Thr1111=)
c.5246C= (p.Thr1749=)
c.3488-4224C= (n.3488-4224C=)
c.4973C= (p.Thr1658=)
c.4427C= (p.Thr1476=)
c.4580-4224C= (n.4580-4224C=)
c.4154C= (p.Thr1385=)
c.3761-4224C= (n.3761-4224C=)
c.3605C= (p.Thr1202=)
c.5519C= (p.Thr1840=)
c.5243C= (p.Thr1748=)
9g.115046565G>TCA198692666TNCc.318-4224C>A
c.3215-4224C>A (n.3215-4224C>A)
c.3881C>A (p.Thr1294Asn)
c.1913C>A (p.Thr638Asn)
c.569C>A (p.Thr190Asn)
c.3928C>A
c.4970C>A (p.Thr1657Asn)
c.4424C>A (p.Thr1475Asn)
c.4307-4224C>A (n.4307-4224C>A)
n.288C>A
n.253-4224C>A
n.40-4224C>A
c.657C>A
c.4697C>A (p.Thr1566Asn)
c.4034-4224C>A (n.4034-4224C>A)
c.3332C>A (p.Thr1111Asn)
c.5246C>A (p.Thr1749Asn)
c.3488-4224C>A (n.3488-4224C>A)
c.4973C>A (p.Thr1658Asn)
c.4427C>A (p.Thr1476Asn)
c.4580-4224C>A (n.4580-4224C>A)
c.4154C>A (p.Thr1385Asn)
c.3761-4224C>A (n.3761-4224C>A)
c.3605C>A (p.Thr1202Asn)
c.5519C>A (p.Thr1840Asn)
c.5243C>A (p.Thr1748Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.115046566T>ACA374631085TNCc.318-4225A>T
c.3215-4225A>T (n.3215-4225A>T)
c.3880A>T (p.Thr1294Ser)
c.1912A>T (p.Thr638Ser)
c.568A>T (p.Thr190Ser)
c.3927A>T
c.4969A>T (p.Thr1657Ser)
c.4423A>T (p.Thr1475Ser)
c.4307-4225A>T (n.4307-4225A>T)
n.287A>T
n.253-4225A>T
n.40-4225A>T
c.656A>T
c.4696A>T (p.Thr1566Ser)
c.4034-4225A>T (n.4034-4225A>T)
c.3331A>T (p.Thr1111Ser)
c.5245A>T (p.Thr1749Ser)
c.3488-4225A>T (n.3488-4225A>T)
c.4972A>T (p.Thr1658Ser)
c.4426A>T (p.Thr1476Ser)
c.4580-4225A>T (n.4580-4225A>T)
c.4153A>T (p.Thr1385Ser)
c.3761-4225A>T (n.3761-4225A>T)
c.3604A>T (p.Thr1202Ser)
c.5518A>T (p.Thr1840Ser)
c.5242A>T (p.Thr1748Ser)
9g.115046566T>CCA374631087TNCc.318-4225A>G
c.3215-4225A>G (n.3215-4225A>G)
c.3880A>G (p.Thr1294Ala)
c.1912A>G (p.Thr638Ala)
c.568A>G (p.Thr190Ala)
c.3927A>G
c.4969A>G (p.Thr1657Ala)
c.4423A>G (p.Thr1475Ala)
c.4307-4225A>G (n.4307-4225A>G)
n.287A>G
n.253-4225A>G
n.40-4225A>G
c.656A>G
c.4696A>G (p.Thr1566Ala)
c.4034-4225A>G (n.4034-4225A>G)
c.3331A>G (p.Thr1111Ala)
c.5245A>G (p.Thr1749Ala)
c.3488-4225A>G (n.3488-4225A>G)
c.4972A>G (p.Thr1658Ala)
c.4426A>G (p.Thr1476Ala)
c.4580-4225A>G (n.4580-4225A>G)
c.4153A>G (p.Thr1385Ala)
c.3761-4225A>G (n.3761-4225A>G)
c.3604A>G (p.Thr1202Ala)
c.5518A>G (p.Thr1840Ala)
c.5242A>G (p.Thr1748Ala)
9g.115046566T>GCA374631089TNCc.318-4225A>C
c.3215-4225A>C (n.3215-4225A>C)
c.3880A>C (p.Thr1294Pro)
c.1912A>C (p.Thr638Pro)
c.568A>C (p.Thr190Pro)
c.3927A>C
c.4969A>C (p.Thr1657Pro)
c.4423A>C (p.Thr1475Pro)
c.4307-4225A>C (n.4307-4225A>C)
n.287A>C
n.253-4225A>C
n.40-4225A>C
c.656A>C
c.4696A>C (p.Thr1566Pro)
c.4034-4225A>C (n.4034-4225A>C)
c.3331A>C (p.Thr1111Pro)
c.5245A>C (p.Thr1749Pro)
c.3488-4225A>C (n.3488-4225A>C)
c.4972A>C (p.Thr1658Pro)
c.4426A>C (p.Thr1476Pro)
c.4580-4225A>C (n.4580-4225A>C)
c.4153A>C (p.Thr1385Pro)
c.3761-4225A>C (n.3761-4225A>C)
c.3604A>C (p.Thr1202Pro)
c.5518A>C (p.Thr1840Pro)
c.5242A>C (p.Thr1748Pro)
9g.115046571_115046572insAGGACACTTCTATCTCCA2785673973TNCc.318-4225_318-4224insGAAGTGTCCTGAGATA
c.3215-4225_3215-4224insGAAGTGTCCTGAGATA (n.3215-4225_3215-4224insGAAGTGTCCTGAGATA)
c.3880_3881insGAAGTGTCCTGAGATA (p.Thr1294ArgfsTer11)
c.1912_1913insGAAGTGTCCTGAGATA (p.Thr638ArgfsTer11)
c.568_569insGAAGTGTCCTGAGATA (p.Thr190ArgfsTer11)
c.3927_3928insGAAGTGTCCTGAGATA
c.4969_4970insGAAGTGTCCTGAGATA (p.Thr1657ArgfsTer11)
c.4423_4424insGAAGTGTCCTGAGATA (p.Thr1475ArgfsTer11)
c.4307-4225_4307-4224insGAAGTGTCCTGAGATA (n.4307-4225_4307-4224insGAAGTGTCCTGAGATA)
n.287_288insGAAGTGTCCTGAGATA
n.253-4225_253-4224insGAAGTGTCCTGAGATA
n.40-4225_40-4224insGAAGTGTCCTGAGATA
c.656_657insGAAGTGTCCTGAGATA
c.4696_4697insGAAGTGTCCTGAGATA (p.Thr1566ArgfsTer11)
c.4034-4225_4034-4224insGAAGTGTCCTGAGATA (n.4034-4225_4034-4224insGAAGTGTCCTGAGATA)
c.3331_3332insGAAGTGTCCTGAGATA (p.Thr1111ArgfsTer11)
c.5245_5246insGAAGTGTCCTGAGATA (p.Thr1749ArgfsTer11)
c.3488-4225_3488-4224insGAAGTGTCCTGAGATA (n.3488-4225_3488-4224insGAAGTGTCCTGAGATA)
c.4972_4973insGAAGTGTCCTGAGATA (p.Thr1658ArgfsTer11)
c.4426_4427insGAAGTGTCCTGAGATA (p.Thr1476ArgfsTer11)
c.4580-4225_4580-4224insGAAGTGTCCTGAGATA (n.4580-4225_4580-4224insGAAGTGTCCTGAGATA)
c.4153_4154insGAAGTGTCCTGAGATA (p.Thr1385ArgfsTer11)
c.3761-4225_3761-4224insGAAGTGTCCTGAGATA (n.3761-4225_3761-4224insGAAGTGTCCTGAGATA)
c.3604_3605insGAAGTGTCCTGAGATA (p.Thr1202ArgfsTer11)
c.5518_5519insGAAGTGTCCTGAGATA (p.Thr1840ArgfsTer11)
c.5242_5243insGAAGTGTCCTGAGATA (p.Thr1748ArgfsTer11)
9g.115046567A=CA1874118912TNCc.318-4226T=
c.3215-4226T= (n.3215-4226T=)
c.3879T= (p.Asp1293=)
c.1911T= (p.Asp637=)
c.567T= (p.Asp189=)
c.3926T=
c.4968T= (p.Asp1656=)
c.4422T= (p.Asp1474=)
c.4307-4226T= (n.4307-4226T=)
n.286T=
n.253-4226T=
n.40-4226T=
c.655T=
c.4695T= (p.Asp1565=)
c.4034-4226T= (n.4034-4226T=)
c.3330T= (p.Asp1110=)
c.5244T= (p.Asp1748=)
c.3488-4226T= (n.3488-4226T=)
c.4971T= (p.Asp1657=)
c.4425T= (p.Asp1475=)
c.4580-4226T= (n.4580-4226T=)
c.4152T= (p.Asp1384=)
c.3761-4226T= (n.3761-4226T=)
c.3603T= (p.Asp1201=)
c.5517T= (p.Asp1839=)
c.5241T= (p.Asp1747=)
9g.115046567A>CCA374631091TNCc.318-4226T>G
c.3215-4226T>G (n.3215-4226T>G)
c.3879T>G (p.Asp1293Glu)
c.1911T>G (p.Asp637Glu)
c.567T>G (p.Asp189Glu)
c.3926T>G
c.4968T>G (p.Asp1656Glu)
c.4422T>G (p.Asp1474Glu)
c.4307-4226T>G (n.4307-4226T>G)
n.286T>G
n.253-4226T>G
n.40-4226T>G
c.655T>G
c.4695T>G (p.Asp1565Glu)
c.4034-4226T>G (n.4034-4226T>G)
c.3330T>G (p.Asp1110Glu)
c.5244T>G (p.Asp1748Glu)
c.3488-4226T>G (n.3488-4226T>G)
c.4971T>G (p.Asp1657Glu)
c.4425T>G (p.Asp1475Glu)
c.4580-4226T>G (n.4580-4226T>G)
c.4152T>G (p.Asp1384Glu)
c.3761-4226T>G (n.3761-4226T>G)
c.3603T>G (p.Asp1201Glu)
c.5517T>G (p.Asp1839Glu)
c.5241T>G (p.Asp1747Glu)
9g.115046567A>GCA198692675TNCc.318-4226T>C
c.3215-4226T>C (n.3215-4226T>C)
c.3879T>C (p.Asp1293=)
c.1911T>C (p.Asp637=)
c.567T>C (p.Asp189=)
c.3926T>C
c.4968T>C (p.Asp1656=)
c.4422T>C (p.Asp1474=)
c.4307-4226T>C (n.4307-4226T>C)
n.286T>C
n.253-4226T>C
n.40-4226T>C
c.655T>C
c.4695T>C (p.Asp1565=)
c.4034-4226T>C (n.4034-4226T>C)
c.3330T>C (p.Asp1110=)
c.5244T>C (p.Asp1748=)
c.3488-4226T>C (n.3488-4226T>C)
c.4971T>C (p.Asp1657=)
c.4425T>C (p.Asp1475=)
c.4580-4226T>C (n.4580-4226T>C)
c.4152T>C (p.Asp1384=)
c.3761-4226T>C (n.3761-4226T>C)
c.3603T>C (p.Asp1201=)
c.5517T>C (p.Asp1839=)
c.5241T>C (p.Asp1747=)
 dbSNP gnomAD v4
9g.115046567A>TCA374631093TNCc.318-4226T>A
c.3215-4226T>A (n.3215-4226T>A)
c.3879T>A (p.Asp1293Glu)
c.1911T>A (p.Asp637Glu)
c.567T>A (p.Asp189Glu)
c.3926T>A
c.4968T>A (p.Asp1656Glu)
c.4422T>A (p.Asp1474Glu)
c.4307-4226T>A (n.4307-4226T>A)
n.286T>A
n.253-4226T>A
n.40-4226T>A
c.655T>A
c.4695T>A (p.Asp1565Glu)
c.4034-4226T>A (n.4034-4226T>A)
c.3330T>A (p.Asp1110Glu)
c.5244T>A (p.Asp1748Glu)
c.3488-4226T>A (n.3488-4226T>A)
c.4971T>A (p.Asp1657Glu)
c.4425T>A (p.Asp1475Glu)
c.4580-4226T>A (n.4580-4226T>A)
c.4152T>A (p.Asp1384Glu)
c.3761-4226T>A (n.3761-4226T>A)
c.3603T>A (p.Asp1201Glu)
c.5517T>A (p.Asp1839Glu)
c.5241T>A (p.Asp1747Glu)
9g.115046568T>ACA374631098TNCc.318-4227A>T
c.3215-4227A>T (n.3215-4227A>T)
c.3878A>T (p.Asp1293Val)
c.1910A>T (p.Asp637Val)
c.566A>T (p.Asp189Val)
c.3925A>T
c.4967A>T (p.Asp1656Val)
c.4421A>T (p.Asp1474Val)
c.4307-4227A>T (n.4307-4227A>T)
n.285A>T
n.253-4227A>T
n.40-4227A>T
c.654A>T
c.4694A>T (p.Asp1565Val)
c.4034-4227A>T (n.4034-4227A>T)
c.3329A>T (p.Asp1110Val)
c.5243A>T (p.Asp1748Val)
c.3488-4227A>T (n.3488-4227A>T)
c.4970A>T (p.Asp1657Val)
c.4424A>T (p.Asp1475Val)
c.4580-4227A>T (n.4580-4227A>T)
c.4151A>T (p.Asp1384Val)
c.3761-4227A>T (n.3761-4227A>T)
c.3602A>T (p.Asp1201Val)
c.5516A>T (p.Asp1839Val)
c.5240A>T (p.Asp1747Val)
9g.115046568T>CCA374631095TNCc.318-4227A>G
c.3215-4227A>G (n.3215-4227A>G)
c.3878A>G (p.Asp1293Gly)
c.1910A>G (p.Asp637Gly)
c.566A>G (p.Asp189Gly)
c.3925A>G
c.4967A>G (p.Asp1656Gly)
c.4421A>G (p.Asp1474Gly)
c.4307-4227A>G (n.4307-4227A>G)
n.285A>G
n.253-4227A>G
n.40-4227A>G
c.654A>G
c.4694A>G (p.Asp1565Gly)
c.4034-4227A>G (n.4034-4227A>G)
c.3329A>G (p.Asp1110Gly)
c.5243A>G (p.Asp1748Gly)
c.3488-4227A>G (n.3488-4227A>G)
c.4970A>G (p.Asp1657Gly)
c.4424A>G (p.Asp1475Gly)
c.4580-4227A>G (n.4580-4227A>G)
c.4151A>G (p.Asp1384Gly)
c.3761-4227A>G (n.3761-4227A>G)
c.3602A>G (p.Asp1201Gly)
c.5516A>G (p.Asp1839Gly)
c.5240A>G (p.Asp1747Gly)
9g.115046568T>GCA374631096TNCc.318-4227A>C
c.3215-4227A>C (n.3215-4227A>C)
c.3878A>C (p.Asp1293Ala)
c.1910A>C (p.Asp637Ala)
c.566A>C (p.Asp189Ala)
c.3925A>C
c.4967A>C (p.Asp1656Ala)
c.4421A>C (p.Asp1474Ala)
c.4307-4227A>C (n.4307-4227A>C)
n.285A>C
n.253-4227A>C
n.40-4227A>C
c.654A>C
c.4694A>C (p.Asp1565Ala)
c.4034-4227A>C (n.4034-4227A>C)
c.3329A>C (p.Asp1110Ala)
c.5243A>C (p.Asp1748Ala)
c.3488-4227A>C (n.3488-4227A>C)
c.4970A>C (p.Asp1657Ala)
c.4424A>C (p.Asp1475Ala)
c.4580-4227A>C (n.4580-4227A>C)
c.4151A>C (p.Asp1384Ala)
c.3761-4227A>C (n.3761-4227A>C)
c.3602A>C (p.Asp1201Ala)
c.5516A>C (p.Asp1839Ala)
c.5240A>C (p.Asp1747Ala)
9g.115046569C>ACA374631099TNCc.318-4228G>T
c.3215-4228G>T (n.3215-4228G>T)
c.3877G>T (p.Asp1293Tyr)
c.1909G>T (p.Asp637Tyr)
c.565G>T (p.Asp189Tyr)
c.3924G>T
c.4966G>T (p.Asp1656Tyr)
c.4420G>T (p.Asp1474Tyr)
c.4307-4228G>T (n.4307-4228G>T)
n.284G>T
n.253-4228G>T
n.40-4228G>T
c.653G>T
c.4693G>T (p.Asp1565Tyr)
c.4034-4228G>T (n.4034-4228G>T)
c.3328G>T (p.Asp1110Tyr)
c.5242G>T (p.Asp1748Tyr)
c.3488-4228G>T (n.3488-4228G>T)
c.4969G>T (p.Asp1657Tyr)
c.4423G>T (p.Asp1475Tyr)
c.4580-4228G>T (n.4580-4228G>T)
c.4150G>T (p.Asp1384Tyr)
c.3761-4228G>T (n.3761-4228G>T)
c.3601G>T (p.Asp1201Tyr)
c.5515G>T (p.Asp1839Tyr)
c.5239G>T (p.Asp1747Tyr)
 gnomAD v4
9g.115046569C=CA1874118913TNCc.318-4228G=
c.3215-4228G= (n.3215-4228G=)
c.3877G= (p.Asp1293=)
c.1909G= (p.Asp637=)
c.565G= (p.Asp189=)
c.3924G=
c.4966G= (p.Asp1656=)
c.4420G= (p.Asp1474=)
c.4307-4228G= (n.4307-4228G=)
n.284G=
n.253-4228G=
n.40-4228G=
c.653G=
c.4693G= (p.Asp1565=)
c.4034-4228G= (n.4034-4228G=)
c.3328G= (p.Asp1110=)
c.5242G= (p.Asp1748=)
c.3488-4228G= (n.3488-4228G=)
c.4969G= (p.Asp1657=)
c.4423G= (p.Asp1475=)
c.4580-4228G= (n.4580-4228G=)
c.4150G= (p.Asp1384=)
c.3761-4228G= (n.3761-4228G=)
c.3601G= (p.Asp1201=)
c.5515G= (p.Asp1839=)
c.5239G= (p.Asp1747=)
9g.115046569C>GCA374631100TNCc.318-4228G>C
c.3215-4228G>C (n.3215-4228G>C)
c.3877G>C (p.Asp1293His)
c.1909G>C (p.Asp637His)
c.565G>C (p.Asp189His)
c.3924G>C
c.4966G>C (p.Asp1656His)
c.4420G>C (p.Asp1474His)
c.4307-4228G>C (n.4307-4228G>C)
n.284G>C
n.253-4228G>C
n.40-4228G>C
c.653G>C
c.4693G>C (p.Asp1565His)
c.4034-4228G>C (n.4034-4228G>C)
c.3328G>C (p.Asp1110His)
c.5242G>C (p.Asp1748His)
c.3488-4228G>C (n.3488-4228G>C)
c.4969G>C (p.Asp1657His)
c.4423G>C (p.Asp1475His)
c.4580-4228G>C (n.4580-4228G>C)
c.4150G>C (p.Asp1384His)
c.3761-4228G>C (n.3761-4228G>C)
c.3601G>C (p.Asp1201His)
c.5515G>C (p.Asp1839His)
c.5239G>C (p.Asp1747His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.115046569C>TCA5207778TNCc.318-4228G>A
c.3215-4228G>A (n.3215-4228G>A)
c.3877G>A (p.Asp1293Asn)
c.1909G>A (p.Asp637Asn)
c.565G>A (p.Asp189Asn)
c.3924G>A
c.4966G>A (p.Asp1656Asn)
c.4420G>A (p.Asp1474Asn)
c.4307-4228G>A (n.4307-4228G>A)
n.284G>A
n.253-4228G>A
n.40-4228G>A
c.653G>A
c.4693G>A (p.Asp1565Asn)
c.4034-4228G>A (n.4034-4228G>A)
c.3328G>A (p.Asp1110Asn)
c.5242G>A (p.Asp1748Asn)
c.3488-4228G>A (n.3488-4228G>A)
c.4969G>A (p.Asp1657Asn)
c.4423G>A (p.Asp1475Asn)
c.4580-4228G>A (n.4580-4228G>A)
c.4150G>A (p.Asp1384Asn)
c.3761-4228G>A (n.3761-4228G>A)
c.3601G>A (p.Asp1201Asn)
c.5515G>A (p.Asp1839Asn)
c.5239G>A (p.Asp1747Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
9g.115046570T>ACA374631103TNCc.318-4229A>T
c.3215-4229A>T (n.3215-4229A>T)
c.3876A>T (p.Arg1292Ser)
c.1908A>T (p.Arg636Ser)
c.564A>T (p.Arg188Ser)
c.3923A>T
c.4965A>T (p.Arg1655Ser)
c.4419A>T (p.Arg1473Ser)
c.4307-4229A>T (n.4307-4229A>T)
n.283A>T
n.253-4229A>T
n.40-4229A>T
c.652A>T
c.4692A>T (p.Arg1564Ser)
c.4034-4229A>T (n.4034-4229A>T)
c.3327A>T (p.Arg1109Ser)
c.5241A>T (p.Arg1747Ser)
c.3488-4229A>T (n.3488-4229A>T)
c.4968A>T (p.Arg1656Ser)
c.4422A>T (p.Arg1474Ser)
c.4580-4229A>T (n.4580-4229A>T)
c.4149A>T (p.Arg1383Ser)
c.3761-4229A>T (n.3761-4229A>T)
c.3600A>T (p.Arg1200Ser)
c.5514A>T (p.Arg1838Ser)
c.5238A>T (p.Arg1746Ser)
 dbSNP gnomAD v3 gnomAD v4
9g.115046570T>CCA466912486TNCc.318-4229A>G
c.3215-4229A>G (n.3215-4229A>G)
c.3876A>G (p.Arg1292=)
c.1908A>G (p.Arg636=)
c.564A>G (p.Arg188=)
c.3923A>G
c.4965A>G (p.Arg1655=)
c.4419A>G (p.Arg1473=)
c.4307-4229A>G (n.4307-4229A>G)
n.283A>G
n.253-4229A>G
n.40-4229A>G
c.652A>G
c.4692A>G (p.Arg1564=)
c.4034-4229A>G (n.4034-4229A>G)
c.3327A>G (p.Arg1109=)
c.5241A>G (p.Arg1747=)
c.3488-4229A>G (n.3488-4229A>G)
c.4968A>G (p.Arg1656=)
c.4422A>G (p.Arg1474=)
c.4580-4229A>G (n.4580-4229A>G)
c.4149A>G (p.Arg1383=)
c.3761-4229A>G (n.3761-4229A>G)
c.3600A>G (p.Arg1200=)
c.5514A>G (p.Arg1838=)
c.5238A>G (p.Arg1746=)
9g.115046570T>GCA374631105TNCc.318-4229A>C
c.3215-4229A>C (n.3215-4229A>C)
c.3876A>C (p.Arg1292Ser)
c.1908A>C (p.Arg636Ser)
c.564A>C (p.Arg188Ser)
c.3923A>C
c.4965A>C (p.Arg1655Ser)
c.4419A>C (p.Arg1473Ser)
c.4307-4229A>C (n.4307-4229A>C)
n.283A>C
n.253-4229A>C
n.40-4229A>C
c.652A>C
c.4692A>C (p.Arg1564Ser)
c.4034-4229A>C (n.4034-4229A>C)
c.3327A>C (p.Arg1109Ser)
c.5241A>C (p.Arg1747Ser)
c.3488-4229A>C (n.3488-4229A>C)
c.4968A>C (p.Arg1656Ser)
c.4422A>C (p.Arg1474Ser)
c.4580-4229A>C (n.4580-4229A>C)
c.4149A>C (p.Arg1383Ser)
c.3761-4229A>C (n.3761-4229A>C)
c.3600A>C (p.Arg1200Ser)
c.5514A>C (p.Arg1838Ser)
c.5238A>C (p.Arg1746Ser)
 gnomAD v4
9g.115046570T=CA1874118914TNCc.318-4229A=
c.3215-4229A= (n.3215-4229A=)
c.3876A= (p.Arg1292=)
c.1908A= (p.Arg636=)
c.564A= (p.Arg188=)
c.3923A=
c.4965A= (p.Arg1655=)
c.4419A= (p.Arg1473=)
c.4307-4229A= (n.4307-4229A=)
n.283A=
n.253-4229A=
n.40-4229A=
c.652A=
c.4692A= (p.Arg1564=)
c.4034-4229A= (n.4034-4229A=)
c.3327A= (p.Arg1109=)
c.5241A= (p.Arg1747=)
c.3488-4229A= (n.3488-4229A=)
c.4968A= (p.Arg1656=)
c.4422A= (p.Arg1474=)
c.4580-4229A= (n.4580-4229A=)
c.4149A= (p.Arg1383=)
c.3761-4229A= (n.3761-4229A=)
c.3600A= (p.Arg1200=)
c.5514A= (p.Arg1838=)
c.5238A= (p.Arg1746=)
9g.115046571C>ACA374631106TNCc.318-4230G>T
c.3215-4230G>T (n.3215-4230G>T)
c.3875G>T (p.Arg1292Ile)
c.1907G>T (p.Arg636Ile)
c.563G>T (p.Arg188Ile)
c.3922G>T
c.4964G>T (p.Arg1655Ile)
c.4418G>T (p.Arg1473Ile)
c.4307-4230G>T (n.4307-4230G>T)
n.282G>T
n.253-4230G>T
n.40-4230G>T
c.651G>T
c.4691G>T (p.Arg1564Ile)
c.4034-4230G>T (n.4034-4230G>T)
c.3326G>T (p.Arg1109Ile)
c.5240G>T (p.Arg1747Ile)
c.3488-4230G>T (n.3488-4230G>T)
c.4967G>T (p.Arg1656Ile)
c.4421G>T (p.Arg1474Ile)
c.4580-4230G>T (n.4580-4230G>T)
c.4148G>T (p.Arg1383Ile)
c.3761-4230G>T (n.3761-4230G>T)
c.3599G>T (p.Arg1200Ile)
c.5513G>T (p.Arg1838Ile)
c.5237G>T (p.Arg1746Ile)
 COSMIC
9g.115046571C=CA1874118915TNCc.318-4230G=
c.3215-4230G= (n.3215-4230G=)
c.3875G= (p.Arg1292=)
c.1907G= (p.Arg636=)
c.563G= (p.Arg188=)
c.3922G=
c.4964G= (p.Arg1655=)
c.4418G= (p.Arg1473=)
c.4307-4230G= (n.4307-4230G=)
n.282G=
n.253-4230G=
n.40-4230G=
c.651G=
c.4691G= (p.Arg1564=)
c.4034-4230G= (n.4034-4230G=)
c.3326G= (p.Arg1109=)
c.5240G= (p.Arg1747=)
c.3488-4230G= (n.3488-4230G=)
c.4967G= (p.Arg1656=)
c.4421G= (p.Arg1474=)
c.4580-4230G= (n.4580-4230G=)
c.4148G= (p.Arg1383=)
c.3761-4230G= (n.3761-4230G=)
c.3599G= (p.Arg1200=)
c.5513G= (p.Arg1838=)
c.5237G= (p.Arg1746=)
9g.115046571C>GCA374631109TNCc.318-4230G>C
c.3215-4230G>C (n.3215-4230G>C)
c.3875G>C (p.Arg1292Thr)
c.1907G>C (p.Arg636Thr)
c.563G>C (p.Arg188Thr)
c.3922G>C
c.4964G>C (p.Arg1655Thr)
c.4418G>C (p.Arg1473Thr)
c.4307-4230G>C (n.4307-4230G>C)
n.282G>C
n.253-4230G>C
n.40-4230G>C
c.651G>C
c.4691G>C (p.Arg1564Thr)
c.4034-4230G>C (n.4034-4230G>C)
c.3326G>C (p.Arg1109Thr)
c.5240G>C (p.Arg1747Thr)
c.3488-4230G>C (n.3488-4230G>C)
c.4967G>C (p.Arg1656Thr)
c.4421G>C (p.Arg1474Thr)
c.4580-4230G>C (n.4580-4230G>C)
c.4148G>C (p.Arg1383Thr)
c.3761-4230G>C (n.3761-4230G>C)
c.3599G>C (p.Arg1200Thr)
c.5513G>C (p.Arg1838Thr)
c.5237G>C (p.Arg1746Thr)
9g.115046571C>TCA374631107TNCc.318-4230G>A
c.3215-4230G>A (n.3215-4230G>A)
c.3875G>A (p.Arg1292Lys)
c.1907G>A (p.Arg636Lys)
c.563G>A (p.Arg188Lys)
c.3922G>A
c.4964G>A (p.Arg1655Lys)
c.4418G>A (p.Arg1473Lys)
c.4307-4230G>A (n.4307-4230G>A)
n.282G>A
n.253-4230G>A
n.40-4230G>A
c.651G>A
c.4691G>A (p.Arg1564Lys)
c.4034-4230G>A (n.4034-4230G>A)
c.3326G>A (p.Arg1109Lys)
c.5240G>A (p.Arg1747Lys)
c.3488-4230G>A (n.3488-4230G>A)
c.4967G>A (p.Arg1656Lys)
c.4421G>A (p.Arg1474Lys)
c.4580-4230G>A (n.4580-4230G>A)
c.4148G>A (p.Arg1383Lys)
c.3761-4230G>A (n.3761-4230G>A)
c.3599G>A (p.Arg1200Lys)
c.5513G>A (p.Arg1838Lys)
c.5237G>A (p.Arg1746Lys)
 dbSNP gnomAD v2 gnomAD v4
9g.115046572T>ACA374631110TNCc.318-4231A>T
c.3215-4231A>T (n.3215-4231A>T)
c.3874A>T (p.Arg1292Ter)
c.1906A>T (p.Arg636Ter)
c.562A>T (p.Arg188Ter)
c.3921A>T
c.4963A>T (p.Arg1655Ter)
c.4417A>T (p.Arg1473Ter)
c.4307-4231A>T (n.4307-4231A>T)
n.281A>T
n.253-4231A>T
n.40-4231A>T
c.650A>T
c.4690A>T (p.Arg1564Ter)
c.4034-4231A>T (n.4034-4231A>T)
c.3325A>T (p.Arg1109Ter)
c.5239A>T (p.Arg1747Ter)
c.3488-4231A>T (n.3488-4231A>T)
c.4966A>T (p.Arg1656Ter)
c.4420A>T (p.Arg1474Ter)
c.4580-4231A>T (n.4580-4231A>T)
c.4147A>T (p.Arg1383Ter)
c.3761-4231A>T (n.3761-4231A>T)
c.3598A>T (p.Arg1200Ter)
c.5512A>T (p.Arg1838Ter)
c.5236A>T (p.Arg1746Ter)
9g.115046572T>CCA374631112TNCc.318-4231A>G
c.3215-4231A>G (n.3215-4231A>G)
c.3874A>G (p.Arg1292Gly)
c.1906A>G (p.Arg636Gly)
c.562A>G (p.Arg188Gly)
c.3921A>G
c.4963A>G (p.Arg1655Gly)
c.4417A>G (p.Arg1473Gly)
c.4307-4231A>G (n.4307-4231A>G)
n.281A>G
n.253-4231A>G
n.40-4231A>G
c.650A>G
c.4690A>G (p.Arg1564Gly)
c.4034-4231A>G (n.4034-4231A>G)
c.3325A>G (p.Arg1109Gly)
c.5239A>G (p.Arg1747Gly)
c.3488-4231A>G (n.3488-4231A>G)
c.4966A>G (p.Arg1656Gly)
c.4420A>G (p.Arg1474Gly)
c.4580-4231A>G (n.4580-4231A>G)
c.4147A>G (p.Arg1383Gly)
c.3761-4231A>G (n.3761-4231A>G)
c.3598A>G (p.Arg1200Gly)
c.5512A>G (p.Arg1838Gly)
c.5236A>G (p.Arg1746Gly)
 dbSNP
9g.115046572T>GCA466912487TNCc.318-4231A>C
c.3215-4231A>C (n.3215-4231A>C)
c.3874A>C (p.Arg1292=)
c.1906A>C (p.Arg636=)
c.562A>C (p.Arg188=)
c.3921A>C
c.4963A>C (p.Arg1655=)
c.4417A>C (p.Arg1473=)
c.4307-4231A>C (n.4307-4231A>C)
n.281A>C
n.253-4231A>C
n.40-4231A>C
c.650A>C
c.4690A>C (p.Arg1564=)
c.4034-4231A>C (n.4034-4231A>C)
c.3325A>C (p.Arg1109=)
c.5239A>C (p.Arg1747=)
c.3488-4231A>C (n.3488-4231A>C)
c.4966A>C (p.Arg1656=)
c.4420A>C (p.Arg1474=)
c.4580-4231A>C (n.4580-4231A>C)
c.4147A>C (p.Arg1383=)
c.3761-4231A>C (n.3761-4231A>C)
c.3598A>C (p.Arg1200=)
c.5512A>C (p.Arg1838=)
c.5236A>C (p.Arg1746=)
9g.115046572T=CA1874118916TNCc.318-4231A=
c.3215-4231A= (n.3215-4231A=)
c.3874A= (p.Arg1292=)
c.1906A= (p.Arg636=)
c.562A= (p.Arg188=)
c.3921A=
c.4963A= (p.Arg1655=)
c.4417A= (p.Arg1473=)
c.4307-4231A= (n.4307-4231A=)
n.281A=
n.253-4231A=
n.40-4231A=
c.650A=
c.4690A= (p.Arg1564=)
c.4034-4231A= (n.4034-4231A=)
c.3325A= (p.Arg1109=)
c.5239A= (p.Arg1747=)
c.3488-4231A= (n.3488-4231A=)
c.4966A= (p.Arg1656=)
c.4420A= (p.Arg1474=)
c.4580-4231A= (n.4580-4231A=)
c.4147A= (p.Arg1383=)
c.3761-4231A= (n.3761-4231A=)
c.3598A= (p.Arg1200=)
c.5512A= (p.Arg1838=)
c.5236A= (p.Arg1746=)
9g.115046573G>ACA198692687TNCc.318-4232C>T
c.3215-4232C>T (n.3215-4232C>T)
c.3873C>T (p.Ile1291=)
c.1905C>T (p.Ile635=)
c.561C>T (p.Ile187=)
c.3920C>T
c.4962C>T (p.Ile1654=)
c.4416C>T (p.Ile1472=)
c.4307-4232C>T (n.4307-4232C>T)
n.280C>T
n.253-4232C>T
n.40-4232C>T
c.649C>T
c.4689C>T (p.Ile1563=)
c.4034-4232C>T (n.4034-4232C>T)
c.3324C>T (p.Ile1108=)
c.5238C>T (p.Ile1746=)
c.3488-4232C>T (n.3488-4232C>T)
c.4965C>T (p.Ile1655=)
c.4419C>T (p.Ile1473=)
c.4580-4232C>T (n.4580-4232C>T)
c.4146C>T (p.Ile1382=)
c.3761-4232C>T (n.3761-4232C>T)
c.3597C>T (p.Ile1199=)
c.5511C>T (p.Ile1837=)
c.5235C>T (p.Ile1745=)
 dbSNP gnomAD v2 gnomAD v4
9g.115046573G>CCA374631113TNCc.318-4232C>G
c.3215-4232C>G (n.3215-4232C>G)
c.3873C>G (p.Ile1291Met)
c.1905C>G (p.Ile635Met)
c.561C>G (p.Ile187Met)
c.3920C>G
c.4962C>G (p.Ile1654Met)
c.4416C>G (p.Ile1472Met)
c.4307-4232C>G (n.4307-4232C>G)
n.280C>G
n.253-4232C>G
n.40-4232C>G
c.649C>G
c.4689C>G (p.Ile1563Met)
c.4034-4232C>G (n.4034-4232C>G)
c.3324C>G (p.Ile1108Met)
c.5238C>G (p.Ile1746Met)
c.3488-4232C>G (n.3488-4232C>G)
c.4965C>G (p.Ile1655Met)
c.4419C>G (p.Ile1473Met)
c.4580-4232C>G (n.4580-4232C>G)
c.4146C>G (p.Ile1382Met)
c.3761-4232C>G (n.3761-4232C>G)
c.3597C>G (p.Ile1199Met)
c.5511C>G (p.Ile1837Met)
c.5235C>G (p.Ile1745Met)
 gnomAD v4
9g.115046573G=CA1874118917TNCc.318-4232C=
c.3215-4232C= (n.3215-4232C=)
c.3873C= (p.Ile1291=)
c.1905C= (p.Ile635=)
c.561C= (p.Ile187=)
c.3920C=
c.4962C= (p.Ile1654=)
c.4416C= (p.Ile1472=)
c.4307-4232C= (n.4307-4232C=)
n.280C=
n.253-4232C=
n.40-4232C=
c.649C=
c.4689C= (p.Ile1563=)
c.4034-4232C= (n.4034-4232C=)
c.3324C= (p.Ile1108=)
c.5238C= (p.Ile1746=)
c.3488-4232C= (n.3488-4232C=)
c.4965C= (p.Ile1655=)
c.4419C= (p.Ile1473=)
c.4580-4232C= (n.4580-4232C=)
c.4146C= (p.Ile1382=)
c.3761-4232C= (n.3761-4232C=)
c.3597C= (p.Ile1199=)
c.5511C= (p.Ile1837=)
c.5235C= (p.Ile1745=)
9g.115046573G>TCA466912489TNCc.318-4232C>A
c.3215-4232C>A (n.3215-4232C>A)
c.3873C>A (p.Ile1291=)
c.1905C>A (p.Ile635=)
c.561C>A (p.Ile187=)
c.3920C>A
c.4962C>A (p.Ile1654=)
c.4416C>A (p.Ile1472=)
c.4307-4232C>A (n.4307-4232C>A)
n.280C>A
n.253-4232C>A
n.40-4232C>A
c.649C>A
c.4689C>A (p.Ile1563=)
c.4034-4232C>A (n.4034-4232C>A)
c.3324C>A (p.Ile1108=)
c.5238C>A (p.Ile1746=)
c.3488-4232C>A (n.3488-4232C>A)
c.4965C>A (p.Ile1655=)
c.4419C>A (p.Ile1473=)
c.4580-4232C>A (n.4580-4232C>A)
c.4146C>A (p.Ile1382=)
c.3761-4232C>A (n.3761-4232C>A)
c.3597C>A (p.Ile1199=)
c.5511C>A (p.Ile1837=)
c.5235C>A (p.Ile1745=)
9g.115046574A=CA1874118918TNCc.318-4233T=
c.3215-4233T= (n.3215-4233T=)
c.3872T= (p.Ile1291=)
c.1904T= (p.Ile635=)
c.560T= (p.Ile187=)
c.3919T=
c.4961T= (p.Ile1654=)
c.4415T= (p.Ile1472=)
c.4307-4233T= (n.4307-4233T=)
n.279T=
n.253-4233T=
n.40-4233T=
c.648T=
c.4688T= (p.Ile1563=)
c.4034-4233T= (n.4034-4233T=)
c.3323T= (p.Ile1108=)
c.5237T= (p.Ile1746=)
c.3488-4233T= (n.3488-4233T=)
c.4964T= (p.Ile1655=)
c.4418T= (p.Ile1473=)
c.4580-4233T= (n.4580-4233T=)
c.4145T= (p.Ile1382=)
c.3761-4233T= (n.3761-4233T=)
c.3596T= (p.Ile1199=)
c.5510T= (p.Ile1837=)
c.5234T= (p.Ile1745=)
9g.115046574A>CCA374631116TNCc.318-4233T>G
c.3215-4233T>G (n.3215-4233T>G)
c.3872T>G (p.Ile1291Ser)
c.1904T>G (p.Ile635Ser)
c.560T>G (p.Ile187Ser)
c.3919T>G
c.4961T>G (p.Ile1654Ser)
c.4415T>G (p.Ile1472Ser)
c.4307-4233T>G (n.4307-4233T>G)
n.279T>G
n.253-4233T>G
n.40-4233T>G
c.648T>G
c.4688T>G (p.Ile1563Ser)
c.4034-4233T>G (n.4034-4233T>G)
c.3323T>G (p.Ile1108Ser)
c.5237T>G (p.Ile1746Ser)
c.3488-4233T>G (n.3488-4233T>G)
c.4964T>G (p.Ile1655Ser)
c.4418T>G (p.Ile1473Ser)
c.4580-4233T>G (n.4580-4233T>G)
c.4145T>G (p.Ile1382Ser)
c.3761-4233T>G (n.3761-4233T>G)
c.3596T>G (p.Ile1199Ser)
c.5510T>G (p.Ile1837Ser)
c.5234T>G (p.Ile1745Ser)
9g.115046574A>GCA374631117TNCc.318-4233T>C
c.3215-4233T>C (n.3215-4233T>C)
c.3872T>C (p.Ile1291Thr)
c.1904T>C (p.Ile635Thr)
c.560T>C (p.Ile187Thr)
c.3919T>C
c.4961T>C (p.Ile1654Thr)
c.4415T>C (p.Ile1472Thr)
c.4307-4233T>C (n.4307-4233T>C)
n.279T>C
n.253-4233T>C
n.40-4233T>C
c.648T>C
c.4688T>C (p.Ile1563Thr)
c.4034-4233T>C (n.4034-4233T>C)
c.3323T>C (p.Ile1108Thr)
c.5237T>C (p.Ile1746Thr)
c.3488-4233T>C (n.3488-4233T>C)
c.4964T>C (p.Ile1655Thr)
c.4418T>C (p.Ile1473Thr)
c.4580-4233T>C (n.4580-4233T>C)
c.4145T>C (p.Ile1382Thr)
c.3761-4233T>C (n.3761-4233T>C)
c.3596T>C (p.Ile1199Thr)
c.5510T>C (p.Ile1837Thr)
c.5234T>C (p.Ile1745Thr)
9g.115046574A>TCA374631118TNCc.318-4233T>A
c.3215-4233T>A (n.3215-4233T>A)
c.3872T>A (p.Ile1291Asn)
c.1904T>A (p.Ile635Asn)
c.560T>A (p.Ile187Asn)
c.3919T>A
c.4961T>A (p.Ile1654Asn)
c.4415T>A (p.Ile1472Asn)
c.4307-4233T>A (n.4307-4233T>A)
n.279T>A
n.253-4233T>A
n.40-4233T>A
c.648T>A
c.4688T>A (p.Ile1563Asn)
c.4034-4233T>A (n.4034-4233T>A)
c.3323T>A (p.Ile1108Asn)
c.5237T>A (p.Ile1746Asn)
c.3488-4233T>A (n.3488-4233T>A)
c.4964T>A (p.Ile1655Asn)
c.4418T>A (p.Ile1473Asn)
c.4580-4233T>A (n.4580-4233T>A)
c.4145T>A (p.Ile1382Asn)
c.3761-4233T>A (n.3761-4233T>A)
c.3596T>A (p.Ile1199Asn)
c.5510T>A (p.Ile1837Asn)
c.5234T>A (p.Ile1745Asn)
 dbSNP
9g.115046574_115046575insAAGCCGGGGCATCACTACACA2785673974TNCc.318-4233_318-4232insGTAGTGATGCCCCGGCTTT
c.3215-4233_3215-4232insGTAGTGATGCCCCGGCTTT (n.3215-4233_3215-4232insGTAGTGATGCCCCGGCTTT)
c.3872_3873insGTAGTGATGCCCCGGCTTT (p.Ile1291MetfsTer2)
c.1904_1905insGTAGTGATGCCCCGGCTTT (p.Ile635MetfsTer2)
c.560_561insGTAGTGATGCCCCGGCTTT (p.Ile187MetfsTer2)
c.3919_3920insGTAGTGATGCCCCGGCTTT
c.4961_4962insGTAGTGATGCCCCGGCTTT (p.Ile1654MetfsTer2)
c.4415_4416insGTAGTGATGCCCCGGCTTT (p.Ile1472MetfsTer2)
c.4307-4233_4307-4232insGTAGTGATGCCCCGGCTTT (n.4307-4233_4307-4232insGTAGTGATGCCCCGGCTTT)
n.279_280insGTAGTGATGCCCCGGCTTT
n.253-4233_253-4232insGTAGTGATGCCCCGGCTTT
n.40-4233_40-4232insGTAGTGATGCCCCGGCTTT
c.648_649insGTAGTGATGCCCCGGCTTT
c.4688_4689insGTAGTGATGCCCCGGCTTT (p.Ile1563MetfsTer2)
c.4034-4233_4034-4232insGTAGTGATGCCCCGGCTTT (n.4034-4233_4034-4232insGTAGTGATGCCCCGGCTTT)
c.3323_3324insGTAGTGATGCCCCGGCTTT (p.Ile1108MetfsTer2)
c.5237_5238insGTAGTGATGCCCCGGCTTT (p.Ile1746MetfsTer2)
c.3488-4233_3488-4232insGTAGTGATGCCCCGGCTTT (n.3488-4233_3488-4232insGTAGTGATGCCCCGGCTTT)
c.4964_4965insGTAGTGATGCCCCGGCTTT (p.Ile1655MetfsTer2)
c.4418_4419insGTAGTGATGCCCCGGCTTT (p.Ile1473MetfsTer2)
c.4580-4233_4580-4232insGTAGTGATGCCCCGGCTTT (n.4580-4233_4580-4232insGTAGTGATGCCCCGGCTTT)
c.4145_4146insGTAGTGATGCCCCGGCTTT (p.Ile1382MetfsTer2)
c.3761-4233_3761-4232insGTAGTGATGCCCCGGCTTT (n.3761-4233_3761-4232insGTAGTGATGCCCCGGCTTT)
c.3596_3597insGTAGTGATGCCCCGGCTTT (p.Ile1199MetfsTer2)
c.5510_5511insGTAGTGATGCCCCGGCTTT (p.Ile1837MetfsTer2)
c.5234_5235insGTAGTGATGCCCCGGCTTT (p.Ile1745MetfsTer2)
9g.115046575T>ACA374631121TNCc.318-4234A>T
c.3215-4234A>T (n.3215-4234A>T)
c.3871A>T (p.Ile1291Phe)
c.1903A>T (p.Ile635Phe)
c.559A>T (p.Ile187Phe)
c.3918A>T
c.4960A>T (p.Ile1654Phe)
c.4414A>T (p.Ile1472Phe)
c.4307-4234A>T (n.4307-4234A>T)
n.278A>T
n.253-4234A>T
n.40-4234A>T
c.647A>T
c.4687A>T (p.Ile1563Phe)
c.4034-4234A>T (n.4034-4234A>T)
c.3322A>T (p.Ile1108Phe)
c.5236A>T (p.Ile1746Phe)
c.3488-4234A>T (n.3488-4234A>T)
c.4963A>T (p.Ile1655Phe)
c.4417A>T (p.Ile1473Phe)
c.4580-4234A>T (n.4580-4234A>T)
c.4144A>T (p.Ile1382Phe)
c.3761-4234A>T (n.3761-4234A>T)
c.3595A>T (p.Ile1199Phe)
c.5509A>T (p.Ile1837Phe)
c.5233A>T (p.Ile1745Phe)
 gnomAD v4
9g.115046575T>CCA374631123TNCc.318-4234A>G
c.3215-4234A>G (n.3215-4234A>G)
c.3871A>G (p.Ile1291Val)
c.1903A>G (p.Ile635Val)
c.559A>G (p.Ile187Val)
c.3918A>G
c.4960A>G (p.Ile1654Val)
c.4414A>G (p.Ile1472Val)
c.4307-4234A>G (n.4307-4234A>G)
n.278A>G
n.253-4234A>G
n.40-4234A>G
c.647A>G
c.4687A>G (p.Ile1563Val)
c.4034-4234A>G (n.4034-4234A>G)
c.3322A>G (p.Ile1108Val)
c.5236A>G (p.Ile1746Val)
c.3488-4234A>G (n.3488-4234A>G)
c.4963A>G (p.Ile1655Val)
c.4417A>G (p.Ile1473Val)
c.4580-4234A>G (n.4580-4234A>G)
c.4144A>G (p.Ile1382Val)
c.3761-4234A>G (n.3761-4234A>G)
c.3595A>G (p.Ile1199Val)
c.5509A>G (p.Ile1837Val)
c.5233A>G (p.Ile1745Val)
9g.115046575T>GCA374631124TNCc.318-4234A>C
c.3215-4234A>C (n.3215-4234A>C)
c.3871A>C (p.Ile1291Leu)
c.1903A>C (p.Ile635Leu)
c.559A>C (p.Ile187Leu)
c.3918A>C
c.4960A>C (p.Ile1654Leu)
c.4414A>C (p.Ile1472Leu)
c.4307-4234A>C (n.4307-4234A>C)
n.278A>C
n.253-4234A>C
n.40-4234A>C
c.647A>C
c.4687A>C (p.Ile1563Leu)
c.4034-4234A>C (n.4034-4234A>C)
c.3322A>C (p.Ile1108Leu)
c.5236A>C (p.Ile1746Leu)
c.3488-4234A>C (n.3488-4234A>C)
c.4963A>C (p.Ile1655Leu)
c.4417A>C (p.Ile1473Leu)
c.4580-4234A>C (n.4580-4234A>C)
c.4144A>C (p.Ile1382Leu)
c.3761-4234A>C (n.3761-4234A>C)
c.3595A>C (p.Ile1199Leu)
c.5509A>C (p.Ile1837Leu)
c.5233A>C (p.Ile1745Leu)
9g.115046578dupCA5207779TNCc.318-4234dup
c.3215-4234dup (n.3215-4234dup)
c.3871dup (p.Ile1291AsnfsTer9)
c.1903dup (p.Ile635AsnfsTer9)
c.559dup (p.Ile187AsnfsTer9)
c.3918dup
c.4960dup (p.Ile1654AsnfsTer9)
c.4414dup (p.Ile1472AsnfsTer9)
c.4307-4234dup (n.4307-4234dup)
n.278dup
n.253-4234dup
n.40-4234dup
c.647dup
c.4687dup (p.Ile1563AsnfsTer9)
c.4034-4234dup (n.4034-4234dup)
c.3322dup (p.Ile1108AsnfsTer9)
c.5236dup (p.Ile1746AsnfsTer9)
c.3488-4234dup (n.3488-4234dup)
c.4963dup (p.Ile1655AsnfsTer9)
c.4417dup (p.Ile1473AsnfsTer9)
c.4580-4234dup (n.4580-4234dup)
c.4144dup (p.Ile1382AsnfsTer9)
c.3761-4234dup (n.3761-4234dup)
c.3595dup (p.Ile1199AsnfsTer9)
c.5509dup (p.Ile1837AsnfsTer9)
c.5233dup (p.Ile1745AsnfsTer9)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.115046576T>ACA374631126TNCc.318-4235A>T
c.3215-4235A>T (n.3215-4235A>T)
c.3870A>T (p.Lys1290Asn)
c.1902A>T (p.Lys634Asn)
c.558A>T (p.Lys186Asn)
c.3917A>T
c.4959A>T (p.Lys1653Asn)
c.4413A>T (p.Lys1471Asn)
c.4307-4235A>T (n.4307-4235A>T)
n.277A>T
n.253-4235A>T
n.40-4235A>T
c.646A>T
c.4686A>T (p.Lys1562Asn)
c.4034-4235A>T (n.4034-4235A>T)
c.3321A>T (p.Lys1107Asn)
c.5235A>T (p.Lys1745Asn)
c.3488-4235A>T (n.3488-4235A>T)
c.4962A>T (p.Lys1654Asn)
c.4416A>T (p.Lys1472Asn)
c.4580-4235A>T (n.4580-4235A>T)
c.4143A>T (p.Lys1381Asn)
c.3761-4235A>T (n.3761-4235A>T)
c.3594A>T (p.Lys1198Asn)
c.5508A>T (p.Lys1836Asn)
c.5232A>T (p.Lys1744Asn)
9g.115046576T>CCA466912491TNCc.318-4235A>G
c.3215-4235A>G (n.3215-4235A>G)
c.3870A>G (p.Lys1290=)
c.1902A>G (p.Lys634=)
c.558A>G (p.Lys186=)
c.3917A>G
c.4959A>G (p.Lys1653=)
c.4413A>G (p.Lys1471=)
c.4307-4235A>G (n.4307-4235A>G)
n.277A>G
n.253-4235A>G
n.40-4235A>G
c.646A>G
c.4686A>G (p.Lys1562=)
c.4034-4235A>G (n.4034-4235A>G)
c.3321A>G (p.Lys1107=)
c.5235A>G (p.Lys1745=)
c.3488-4235A>G (n.3488-4235A>G)
c.4962A>G (p.Lys1654=)
c.4416A>G (p.Lys1472=)
c.4580-4235A>G (n.4580-4235A>G)
c.4143A>G (p.Lys1381=)
c.3761-4235A>G (n.3761-4235A>G)
c.3594A>G (p.Lys1198=)
c.5508A>G (p.Lys1836=)
c.5232A>G (p.Lys1744=)
9g.115046576T>GCA374631128TNCc.318-4235A>C
c.3215-4235A>C (n.3215-4235A>C)
c.3870A>C (p.Lys1290Asn)
c.1902A>C (p.Lys634Asn)
c.558A>C (p.Lys186Asn)
c.3917A>C
c.4959A>C (p.Lys1653Asn)
c.4413A>C (p.Lys1471Asn)
c.4307-4235A>C (n.4307-4235A>C)
n.277A>C
n.253-4235A>C
n.40-4235A>C
c.646A>C
c.4686A>C (p.Lys1562Asn)
c.4034-4235A>C (n.4034-4235A>C)
c.3321A>C (p.Lys1107Asn)
c.5235A>C (p.Lys1745Asn)
c.3488-4235A>C (n.3488-4235A>C)
c.4962A>C (p.Lys1654Asn)
c.4416A>C (p.Lys1472Asn)
c.4580-4235A>C (n.4580-4235A>C)
c.4143A>C (p.Lys1381Asn)
c.3761-4235A>C (n.3761-4235A>C)
c.3594A>C (p.Lys1198Asn)
c.5508A>C (p.Lys1836Asn)
c.5232A>C (p.Lys1744Asn)
9g.115046577T>ACA374631129TNCc.318-4236A>T
c.3215-4236A>T (n.3215-4236A>T)
c.3869A>T (p.Lys1290Ile)
c.1901A>T (p.Lys634Ile)
c.557A>T (p.Lys186Ile)
c.3916A>T
c.4958A>T (p.Lys1653Ile)
c.4412A>T (p.Lys1471Ile)
c.4307-4236A>T (n.4307-4236A>T)
n.276A>T
n.253-4236A>T
n.40-4236A>T
c.645A>T
c.4685A>T (p.Lys1562Ile)
c.4034-4236A>T (n.4034-4236A>T)
c.3320A>T (p.Lys1107Ile)
c.5234A>T (p.Lys1745Ile)
c.3488-4236A>T (n.3488-4236A>T)
c.4961A>T (p.Lys1654Ile)
c.4415A>T (p.Lys1472Ile)
c.4580-4236A>T (n.4580-4236A>T)
c.4142A>T (p.Lys1381Ile)
c.3761-4236A>T (n.3761-4236A>T)
c.3593A>T (p.Lys1198Ile)
c.5507A>T (p.Lys1836Ile)
c.5231A>T (p.Lys1744Ile)
9g.115046577T>CCA374631130TNCc.318-4236A>G
c.3215-4236A>G (n.3215-4236A>G)
c.3869A>G (p.Lys1290Arg)
c.1901A>G (p.Lys634Arg)
c.557A>G (p.Lys186Arg)
c.3916A>G
c.4958A>G (p.Lys1653Arg)
c.4412A>G (p.Lys1471Arg)
c.4307-4236A>G (n.4307-4236A>G)
n.276A>G
n.253-4236A>G
n.40-4236A>G
c.645A>G
c.4685A>G (p.Lys1562Arg)
c.4034-4236A>G (n.4034-4236A>G)
c.3320A>G (p.Lys1107Arg)
c.5234A>G (p.Lys1745Arg)
c.3488-4236A>G (n.3488-4236A>G)
c.4961A>G (p.Lys1654Arg)
c.4415A>G (p.Lys1472Arg)
c.4580-4236A>G (n.4580-4236A>G)
c.4142A>G (p.Lys1381Arg)
c.3761-4236A>G (n.3761-4236A>G)
c.3593A>G (p.Lys1198Arg)
c.5507A>G (p.Lys1836Arg)
c.5231A>G (p.Lys1744Arg)
9g.115046577T>GCA374631131TNCc.318-4236A>C
c.3215-4236A>C (n.3215-4236A>C)
c.3869A>C (p.Lys1290Thr)
c.1901A>C (p.Lys634Thr)
c.557A>C (p.Lys186Thr)
c.3916A>C
c.4958A>C (p.Lys1653Thr)
c.4412A>C (p.Lys1471Thr)
c.4307-4236A>C (n.4307-4236A>C)
n.276A>C
n.253-4236A>C
n.40-4236A>C
c.645A>C
c.4685A>C (p.Lys1562Thr)
c.4034-4236A>C (n.4034-4236A>C)
c.3320A>C (p.Lys1107Thr)
c.5234A>C (p.Lys1745Thr)
c.3488-4236A>C (n.3488-4236A>C)
c.4961A>C (p.Lys1654Thr)
c.4415A>C (p.Lys1472Thr)
c.4580-4236A>C (n.4580-4236A>C)
c.4142A>C (p.Lys1381Thr)
c.3761-4236A>C (n.3761-4236A>C)
c.3593A>C (p.Lys1198Thr)
c.5507A>C (p.Lys1836Thr)
c.5231A>C (p.Lys1744Thr)
 dbSNP gnomAD v4
9g.115046577T=CA1874118919TNCc.318-4236A=
c.3215-4236A= (n.3215-4236A=)
c.3869A= (p.Lys1290=)
c.1901A= (p.Lys634=)
c.557A= (p.Lys186=)
c.3916A=
c.4958A= (p.Lys1653=)
c.4412A= (p.Lys1471=)
c.4307-4236A= (n.4307-4236A=)
n.276A=
n.253-4236A=
n.40-4236A=
c.645A=
c.4685A= (p.Lys1562=)
c.4034-4236A= (n.4034-4236A=)
c.3320A= (p.Lys1107=)
c.5234A= (p.Lys1745=)
c.3488-4236A= (n.3488-4236A=)
c.4961A= (p.Lys1654=)
c.4415A= (p.Lys1472=)
c.4580-4236A= (n.4580-4236A=)
c.4142A= (p.Lys1381=)
c.3761-4236A= (n.3761-4236A=)
c.3593A= (p.Lys1198=)
c.5507A= (p.Lys1836=)
c.5231A= (p.Lys1744=)
9g.115046578T>ACA374631136TNCc.318-4237A>T
c.3215-4237A>T (n.3215-4237A>T)
c.3868A>T (p.Lys1290Ter)
c.1900A>T (p.Lys634Ter)
c.556A>T (p.Lys186Ter)
c.3915A>T
c.4957A>T (p.Lys1653Ter)
c.4411A>T (p.Lys1471Ter)
c.4307-4237A>T (n.4307-4237A>T)
n.275A>T
n.253-4237A>T
n.40-4237A>T
c.644A>T
c.4684A>T (p.Lys1562Ter)
c.4034-4237A>T (n.4034-4237A>T)
c.3319A>T (p.Lys1107Ter)
c.5233A>T (p.Lys1745Ter)
c.3488-4237A>T (n.3488-4237A>T)
c.4960A>T (p.Lys1654Ter)
c.4414A>T (p.Lys1472Ter)
c.4580-4237A>T (n.4580-4237A>T)
c.4141A>T (p.Lys1381Ter)
c.3761-4237A>T (n.3761-4237A>T)
c.3592A>T (p.Lys1198Ter)
c.5506A>T (p.Lys1836Ter)
c.5230A>T (p.Lys1744Ter)
9g.115046578T>CCA374631132TNCc.318-4237A>G
c.3215-4237A>G (n.3215-4237A>G)
c.3868A>G (p.Lys1290Glu)
c.1900A>G (p.Lys634Glu)
c.556A>G (p.Lys186Glu)
c.3915A>G
c.4957A>G (p.Lys1653Glu)
c.4411A>G (p.Lys1471Glu)
c.4307-4237A>G (n.4307-4237A>G)
n.275A>G
n.253-4237A>G
n.40-4237A>G
c.644A>G
c.4684A>G (p.Lys1562Glu)
c.4034-4237A>G (n.4034-4237A>G)
c.3319A>G (p.Lys1107Glu)
c.5233A>G (p.Lys1745Glu)
c.3488-4237A>G (n.3488-4237A>G)
c.4960A>G (p.Lys1654Glu)
c.4414A>G (p.Lys1472Glu)
c.4580-4237A>G (n.4580-4237A>G)
c.4141A>G (p.Lys1381Glu)
c.3761-4237A>G (n.3761-4237A>G)
c.3592A>G (p.Lys1198Glu)
c.5506A>G (p.Lys1836Glu)
c.5230A>G (p.Lys1744Glu)
 dbSNP gnomAD v2 gnomAD v4
9g.115046578T>GCA374631134TNCc.318-4237A>C
c.3215-4237A>C (n.3215-4237A>C)
c.3868A>C (p.Lys1290Gln)
c.1900A>C (p.Lys634Gln)
c.556A>C (p.Lys186Gln)
c.3915A>C
c.4957A>C (p.Lys1653Gln)
c.4411A>C (p.Lys1471Gln)
c.4307-4237A>C (n.4307-4237A>C)
n.275A>C
n.253-4237A>C
n.40-4237A>C
c.644A>C
c.4684A>C (p.Lys1562Gln)
c.4034-4237A>C (n.4034-4237A>C)
c.3319A>C (p.Lys1107Gln)
c.5233A>C (p.Lys1745Gln)
c.3488-4237A>C (n.3488-4237A>C)
c.4960A>C (p.Lys1654Gln)
c.4414A>C (p.Lys1472Gln)
c.4580-4237A>C (n.4580-4237A>C)
c.4141A>C (p.Lys1381Gln)
c.3761-4237A>C (n.3761-4237A>C)
c.3592A>C (p.Lys1198Gln)
c.5506A>C (p.Lys1836Gln)
c.5230A>C (p.Lys1744Gln)
9g.115046578T=CA1874118920TNCc.318-4237A=
c.3215-4237A= (n.3215-4237A=)
c.3868A= (p.Lys1290=)
c.1900A= (p.Lys634=)
c.556A= (p.Lys186=)
c.3915A=
c.4957A= (p.Lys1653=)
c.4411A= (p.Lys1471=)
c.4307-4237A= (n.4307-4237A=)
n.275A=
n.253-4237A=
n.40-4237A=
c.644A=
c.4684A= (p.Lys1562=)
c.4034-4237A= (n.4034-4237A=)
c.3319A= (p.Lys1107=)
c.5233A= (p.Lys1745=)
c.3488-4237A= (n.3488-4237A=)
c.4960A= (p.Lys1654=)
c.4414A= (p.Lys1472=)
c.4580-4237A= (n.4580-4237A=)
c.4141A= (p.Lys1381=)
c.3761-4237A= (n.3761-4237A=)
c.3592A= (p.Lys1198=)
c.5506A= (p.Lys1836=)
c.5230A= (p.Lys1744=)
9g.115046579G>ACA5207780TNCc.318-4238C>T
c.3215-4238C>T (n.3215-4238C>T)
c.3867C>T (p.Leu1289=)
c.1899C>T (p.Leu633=)
c.555C>T (p.Leu185=)
c.3914C>T
c.4956C>T (p.Leu1652=)
c.4410C>T (p.Leu1470=)
c.4307-4238C>T (n.4307-4238C>T)
n.274C>T
n.253-4238C>T
n.40-4238C>T
c.643C>T
c.4683C>T (p.Leu1561=)
c.4034-4238C>T (n.4034-4238C>T)
c.3318C>T (p.Leu1106=)
c.5232C>T (p.Leu1744=)
c.3488-4238C>T (n.3488-4238C>T)
c.4959C>T (p.Leu1653=)
c.4413C>T (p.Leu1471=)
c.4580-4238C>T (n.4580-4238C>T)
c.4140C>T (p.Leu1380=)
c.3761-4238C>T (n.3761-4238C>T)
c.3591C>T (p.Leu1197=)
c.5505C>T (p.Leu1835=)
c.5229C>T (p.Leu1743=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115046579G>CCA466912495TNCc.318-4238C>G
c.3215-4238C>G (n.3215-4238C>G)
c.3867C>G (p.Leu1289=)
c.1899C>G (p.Leu633=)
c.555C>G (p.Leu185=)
c.3914C>G
c.4956C>G (p.Leu1652=)
c.4410C>G (p.Leu1470=)
c.4307-4238C>G (n.4307-4238C>G)
n.274C>G
n.253-4238C>G
n.40-4238C>G
c.643C>G
c.4683C>G (p.Leu1561=)
c.4034-4238C>G (n.4034-4238C>G)
c.3318C>G (p.Leu1106=)
c.5232C>G (p.Leu1744=)
c.3488-4238C>G (n.3488-4238C>G)
c.4959C>G (p.Leu1653=)
c.4413C>G (p.Leu1471=)
c.4580-4238C>G (n.4580-4238C>G)
c.4140C>G (p.Leu1380=)
c.3761-4238C>G (n.3761-4238C>G)
c.3591C>G (p.Leu1197=)
c.5505C>G (p.Leu1835=)
c.5229C>G (p.Leu1743=)
9g.115046579G=CA1874118921TNCc.318-4238C=
c.3215-4238C= (n.3215-4238C=)
c.3867C= (p.Leu1289=)
c.1899C= (p.Leu633=)
c.555C= (p.Leu185=)
c.3914C=
c.4956C= (p.Leu1652=)
c.4410C= (p.Leu1470=)
c.4307-4238C= (n.4307-4238C=)
n.274C=
n.253-4238C=
n.40-4238C=
c.643C=
c.4683C= (p.Leu1561=)
c.4034-4238C= (n.4034-4238C=)
c.3318C= (p.Leu1106=)
c.5232C= (p.Leu1744=)
c.3488-4238C= (n.3488-4238C=)
c.4959C= (p.Leu1653=)
c.4413C= (p.Leu1471=)
c.4580-4238C= (n.4580-4238C=)
c.4140C= (p.Leu1380=)
c.3761-4238C= (n.3761-4238C=)
c.3591C= (p.Leu1197=)
c.5505C= (p.Leu1835=)
c.5229C= (p.Leu1743=)
9g.115046579G>TCA466912496TNCc.318-4238C>A
c.3215-4238C>A (n.3215-4238C>A)
c.3867C>A (p.Leu1289=)
c.1899C>A (p.Leu633=)
c.555C>A (p.Leu185=)
c.3914C>A
c.4956C>A (p.Leu1652=)
c.4410C>A (p.Leu1470=)
c.4307-4238C>A (n.4307-4238C>A)
n.274C>A
n.253-4238C>A
n.40-4238C>A
c.643C>A
c.4683C>A (p.Leu1561=)
c.4034-4238C>A (n.4034-4238C>A)
c.3318C>A (p.Leu1106=)
c.5232C>A (p.Leu1744=)
c.3488-4238C>A (n.3488-4238C>A)
c.4959C>A (p.Leu1653=)
c.4413C>A (p.Leu1471=)
c.4580-4238C>A (n.4580-4238C>A)
c.4140C>A (p.Leu1380=)
c.3761-4238C>A (n.3761-4238C>A)
c.3591C>A (p.Leu1197=)
c.5505C>A (p.Leu1835=)
c.5229C>A (p.Leu1743=)
9g.115046580A>CCA374631138TNCc.318-4239T>G
c.3215-4239T>G (n.3215-4239T>G)
c.3866T>G (p.Leu1289Arg)
c.1898T>G (p.Leu633Arg)
c.554T>G (p.Leu185Arg)
c.3913T>G
c.4955T>G (p.Leu1652Arg)
c.4409T>G (p.Leu1470Arg)
c.4307-4239T>G (n.4307-4239T>G)
n.273T>G
n.253-4239T>G
n.40-4239T>G
c.642T>G
c.4682T>G (p.Leu1561Arg)
c.4034-4239T>G (n.4034-4239T>G)
c.3317T>G (p.Leu1106Arg)
c.5231T>G (p.Leu1744Arg)
c.3488-4239T>G (n.3488-4239T>G)
c.4958T>G (p.Leu1653Arg)
c.4412T>G (p.Leu1471Arg)
c.4580-4239T>G (n.4580-4239T>G)
c.4139T>G (p.Leu1380Arg)
c.3761-4239T>G (n.3761-4239T>G)
c.3590T>G (p.Leu1197Arg)
c.5504T>G (p.Leu1835Arg)
c.5228T>G (p.Leu1743Arg)
 gnomAD v4
9g.115046580A>GCA374631139TNCc.318-4239T>C
c.3215-4239T>C (n.3215-4239T>C)
c.3866T>C (p.Leu1289Pro)
c.1898T>C (p.Leu633Pro)
c.554T>C (p.Leu185Pro)
c.3913T>C
c.4955T>C (p.Leu1652Pro)
c.4409T>C (p.Leu1470Pro)
c.4307-4239T>C (n.4307-4239T>C)
n.273T>C
n.253-4239T>C
n.40-4239T>C
c.642T>C
c.4682T>C (p.Leu1561Pro)
c.4034-4239T>C (n.4034-4239T>C)
c.3317T>C (p.Leu1106Pro)
c.5231T>C (p.Leu1744Pro)
c.3488-4239T>C (n.3488-4239T>C)
c.4958T>C (p.Leu1653Pro)
c.4412T>C (p.Leu1471Pro)
c.4580-4239T>C (n.4580-4239T>C)
c.4139T>C (p.Leu1380Pro)
c.3761-4239T>C (n.3761-4239T>C)
c.3590T>C (p.Leu1197Pro)
c.5504T>C (p.Leu1835Pro)
c.5228T>C (p.Leu1743Pro)
9g.115046580A>TCA374631141TNCc.318-4239T>A
c.3215-4239T>A (n.3215-4239T>A)
c.3866T>A (p.Leu1289His)
c.1898T>A (p.Leu633His)
c.554T>A (p.Leu185His)
c.3913T>A
c.4955T>A (p.Leu1652His)
c.4409T>A (p.Leu1470His)
c.4307-4239T>A (n.4307-4239T>A)
n.273T>A
n.253-4239T>A
n.40-4239T>A
c.642T>A
c.4682T>A (p.Leu1561His)
c.4034-4239T>A (n.4034-4239T>A)
c.3317T>A (p.Leu1106His)
c.5231T>A (p.Leu1744His)
c.3488-4239T>A (n.3488-4239T>A)
c.4958T>A (p.Leu1653His)
c.4412T>A (p.Leu1471His)
c.4580-4239T>A (n.4580-4239T>A)
c.4139T>A (p.Leu1380His)
c.3761-4239T>A (n.3761-4239T>A)
c.3590T>A (p.Leu1197His)
c.5504T>A (p.Leu1835His)
c.5228T>A (p.Leu1743His)
9g.115046581G>ACA374631143TNCc.318-4240C>T
c.3215-4240C>T (n.3215-4240C>T)
c.3865C>T (p.Leu1289Phe)
c.1897C>T (p.Leu633Phe)
c.553C>T (p.Leu185Phe)
c.3912C>T
c.4954C>T (p.Leu1652Phe)
c.4408C>T (p.Leu1470Phe)
c.4307-4240C>T (n.4307-4240C>T)
n.272C>T
n.253-4240C>T
n.40-4240C>T
c.641C>T
c.4681C>T (p.Leu1561Phe)
c.4034-4240C>T (n.4034-4240C>T)
c.3316C>T (p.Leu1106Phe)
c.5230C>T (p.Leu1744Phe)
c.3488-4240C>T (n.3488-4240C>T)
c.4957C>T (p.Leu1653Phe)
c.4411C>T (p.Leu1471Phe)
c.4580-4240C>T (n.4580-4240C>T)
c.4138C>T (p.Leu1380Phe)
c.3761-4240C>T (n.3761-4240C>T)
c.3589C>T (p.Leu1197Phe)
c.5503C>T (p.Leu1835Phe)
c.5227C>T (p.Leu1743Phe)
9g.115046581G>CCA374631144TNCc.318-4240C>G
c.3215-4240C>G (n.3215-4240C>G)
c.3865C>G (p.Leu1289Val)
c.1897C>G (p.Leu633Val)
c.553C>G (p.Leu185Val)
c.3912C>G
c.4954C>G (p.Leu1652Val)
c.4408C>G (p.Leu1470Val)
c.4307-4240C>G (n.4307-4240C>G)
n.272C>G
n.253-4240C>G
n.40-4240C>G
c.641C>G
c.4681C>G (p.Leu1561Val)
c.4034-4240C>G (n.4034-4240C>G)
c.3316C>G (p.Leu1106Val)
c.5230C>G (p.Leu1744Val)
c.3488-4240C>G (n.3488-4240C>G)
c.4957C>G (p.Leu1653Val)
c.4411C>G (p.Leu1471Val)
c.4580-4240C>G (n.4580-4240C>G)
c.4138C>G (p.Leu1380Val)
c.3761-4240C>G (n.3761-4240C>G)
c.3589C>G (p.Leu1197Val)
c.5503C>G (p.Leu1835Val)
c.5227C>G (p.Leu1743Val)
9g.115046581G>TCA374631146TNCc.318-4240C>A
c.3215-4240C>A (n.3215-4240C>A)
c.3865C>A (p.Leu1289Ile)
c.1897C>A (p.Leu633Ile)
c.553C>A (p.Leu185Ile)
c.3912C>A
c.4954C>A (p.Leu1652Ile)
c.4408C>A (p.Leu1470Ile)
c.4307-4240C>A (n.4307-4240C>A)
n.272C>A
n.253-4240C>A
n.40-4240C>A
c.641C>A
c.4681C>A (p.Leu1561Ile)
c.4034-4240C>A (n.4034-4240C>A)
c.3316C>A (p.Leu1106Ile)
c.5230C>A (p.Leu1744Ile)
c.3488-4240C>A (n.3488-4240C>A)
c.4957C>A (p.Leu1653Ile)
c.4411C>A (p.Leu1471Ile)
c.4580-4240C>A (n.4580-4240C>A)
c.4138C>A (p.Leu1380Ile)
c.3761-4240C>A (n.3761-4240C>A)
c.3589C>A (p.Leu1197Ile)
c.5503C>A (p.Leu1835Ile)
c.5227C>A (p.Leu1743Ile)
9g.115046582A=CA1874118922TNCc.318-4241T=
c.3215-4241T= (n.3215-4241T=)
c.3864T= (p.Val1288=)
c.1896T= (p.Val632=)
c.552T= (p.Val184=)
c.3911T=
c.4953T= (p.Val1651=)
c.4407T= (p.Val1469=)
c.4307-4241T= (n.4307-4241T=)
n.271T=
n.253-4241T=
n.40-4241T=
c.640T=
c.4680T= (p.Val1560=)
c.4034-4241T= (n.4034-4241T=)
c.3315T= (p.Val1105=)
c.5229T= (p.Val1743=)
c.3488-4241T= (n.3488-4241T=)
c.4956T= (p.Val1652=)
c.4410T= (p.Val1470=)
c.4580-4241T= (n.4580-4241T=)
c.4137T= (p.Val1379=)
c.3761-4241T= (n.3761-4241T=)
c.3588T= (p.Val1196=)
c.5502T= (p.Val1834=)
c.5226T= (p.Val1742=)
9g.115046582A>CCA466912497TNCc.318-4241T>G
c.3215-4241T>G (n.3215-4241T>G)
c.3864T>G (p.Val1288=)
c.1896T>G (p.Val632=)
c.552T>G (p.Val184=)
c.3911T>G
c.4953T>G (p.Val1651=)
c.4407T>G (p.Val1469=)
c.4307-4241T>G (n.4307-4241T>G)
n.271T>G
n.253-4241T>G
n.40-4241T>G
c.640T>G
c.4680T>G (p.Val1560=)
c.4034-4241T>G (n.4034-4241T>G)
c.3315T>G (p.Val1105=)
c.5229T>G (p.Val1743=)
c.3488-4241T>G (n.3488-4241T>G)
c.4956T>G (p.Val1652=)
c.4410T>G (p.Val1470=)
c.4580-4241T>G (n.4580-4241T>G)
c.4137T>G (p.Val1379=)
c.3761-4241T>G (n.3761-4241T>G)
c.3588T>G (p.Val1196=)
c.5502T>G (p.Val1834=)
c.5226T>G (p.Val1742=)
 dbSNP gnomAD v3 gnomAD v4
9g.115046582A>GCA466912498TNCc.318-4241T>C
c.3215-4241T>C (n.3215-4241T>C)
c.3864T>C (p.Val1288=)
c.1896T>C (p.Val632=)
c.552T>C (p.Val184=)
c.3911T>C
c.4953T>C (p.Val1651=)
c.4407T>C (p.Val1469=)
c.4307-4241T>C (n.4307-4241T>C)
n.271T>C
n.253-4241T>C
n.40-4241T>C
c.640T>C
c.4680T>C (p.Val1560=)
c.4034-4241T>C (n.4034-4241T>C)
c.3315T>C (p.Val1105=)
c.5229T>C (p.Val1743=)
c.3488-4241T>C (n.3488-4241T>C)
c.4956T>C (p.Val1652=)
c.4410T>C (p.Val1470=)
c.4580-4241T>C (n.4580-4241T>C)
c.4137T>C (p.Val1379=)
c.3761-4241T>C (n.3761-4241T>C)
c.3588T>C (p.Val1196=)
c.5502T>C (p.Val1834=)
c.5226T>C (p.Val1742=)
 gnomAD v4
9g.115046582A>TCA466912499TNCc.318-4241T>A
c.3215-4241T>A (n.3215-4241T>A)
c.3864T>A (p.Val1288=)
c.1896T>A (p.Val632=)
c.552T>A (p.Val184=)
c.3911T>A
c.4953T>A (p.Val1651=)
c.4407T>A (p.Val1469=)
c.4307-4241T>A (n.4307-4241T>A)
n.271T>A
n.253-4241T>A
n.40-4241T>A
c.640T>A
c.4680T>A (p.Val1560=)
c.4034-4241T>A (n.4034-4241T>A)
c.3315T>A (p.Val1105=)
c.5229T>A (p.Val1743=)
c.3488-4241T>A (n.3488-4241T>A)
c.4956T>A (p.Val1652=)
c.4410T>A (p.Val1470=)
c.4580-4241T>A (n.4580-4241T>A)
c.4137T>A (p.Val1379=)
c.3761-4241T>A (n.3761-4241T>A)
c.3588T>A (p.Val1196=)
c.5502T>A (p.Val1834=)
c.5226T>A (p.Val1742=)
9g.115046583A=CA1874118923TNCc.318-4242T=
c.3215-4242T= (n.3215-4242T=)
c.3863T= (p.Val1288=)
c.1895T= (p.Val632=)
c.551T= (p.Val184=)
c.3910T=
c.4952T= (p.Val1651=)
c.4406T= (p.Val1469=)
c.4307-4242T= (n.4307-4242T=)
n.270T=
n.253-4242T=
n.40-4242T=
c.639T=
c.4679T= (p.Val1560=)
c.4034-4242T= (n.4034-4242T=)
c.3314T= (p.Val1105=)
c.5228T= (p.Val1743=)
c.3488-4242T= (n.3488-4242T=)
c.4955T= (p.Val1652=)
c.4409T= (p.Val1470=)
c.4580-4242T= (n.4580-4242T=)
c.4136T= (p.Val1379=)
c.3761-4242T= (n.3761-4242T=)
c.3587T= (p.Val1196=)
c.5501T= (p.Val1834=)
c.5225T= (p.Val1742=)
9g.115046583A>CCA374631148TNCc.318-4242T>G
c.3215-4242T>G (n.3215-4242T>G)
c.3863T>G (p.Val1288Gly)
c.1895T>G (p.Val632Gly)
c.551T>G (p.Val184Gly)
c.3910T>G
c.4952T>G (p.Val1651Gly)
c.4406T>G (p.Val1469Gly)
c.4307-4242T>G (n.4307-4242T>G)
n.270T>G
n.253-4242T>G
n.40-4242T>G
c.639T>G
c.4679T>G (p.Val1560Gly)
c.4034-4242T>G (n.4034-4242T>G)
c.3314T>G (p.Val1105Gly)
c.5228T>G (p.Val1743Gly)
c.3488-4242T>G (n.3488-4242T>G)
c.4955T>G (p.Val1652Gly)
c.4409T>G (p.Val1470Gly)
c.4580-4242T>G (n.4580-4242T>G)
c.4136T>G (p.Val1379Gly)
c.3761-4242T>G (n.3761-4242T>G)
c.3587T>G (p.Val1196Gly)
c.5501T>G (p.Val1834Gly)
c.5225T>G (p.Val1742Gly)
9g.115046583A>GCA374631150TNCc.318-4242T>C
c.3215-4242T>C (n.3215-4242T>C)
c.3863T>C (p.Val1288Ala)
c.1895T>C (p.Val632Ala)
c.551T>C (p.Val184Ala)
c.3910T>C
c.4952T>C (p.Val1651Ala)
c.4406T>C (p.Val1469Ala)
c.4307-4242T>C (n.4307-4242T>C)
n.270T>C
n.253-4242T>C
n.40-4242T>C
c.639T>C
c.4679T>C (p.Val1560Ala)
c.4034-4242T>C (n.4034-4242T>C)
c.3314T>C (p.Val1105Ala)
c.5228T>C (p.Val1743Ala)
c.3488-4242T>C (n.3488-4242T>C)
c.4955T>C (p.Val1652Ala)
c.4409T>C (p.Val1470Ala)
c.4580-4242T>C (n.4580-4242T>C)
c.4136T>C (p.Val1379Ala)
c.3761-4242T>C (n.3761-4242T>C)
c.3587T>C (p.Val1196Ala)
c.5501T>C (p.Val1834Ala)
c.5225T>C (p.Val1742Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.115046583A>TCA374631151TNCc.318-4242T>A
c.3215-4242T>A (n.3215-4242T>A)
c.3863T>A (p.Val1288Asp)
c.1895T>A (p.Val632Asp)
c.551T>A (p.Val184Asp)
c.3910T>A
c.4952T>A (p.Val1651Asp)
c.4406T>A (p.Val1469Asp)
c.4307-4242T>A (n.4307-4242T>A)
n.270T>A
n.253-4242T>A
n.40-4242T>A
c.639T>A
c.4679T>A (p.Val1560Asp)
c.4034-4242T>A (n.4034-4242T>A)
c.3314T>A (p.Val1105Asp)
c.5228T>A (p.Val1743Asp)
c.3488-4242T>A (n.3488-4242T>A)
c.4955T>A (p.Val1652Asp)
c.4409T>A (p.Val1470Asp)
c.4580-4242T>A (n.4580-4242T>A)
c.4136T>A (p.Val1379Asp)
c.3761-4242T>A (n.3761-4242T>A)
c.3587T>A (p.Val1196Asp)
c.5501T>A (p.Val1834Asp)
c.5225T>A (p.Val1742Asp)
9g.115046584C>ACA5207781TNCc.318-4243G>T
c.3215-4243G>T (n.3215-4243G>T)
c.3862G>T (p.Val1288Phe)
c.1894G>T (p.Val632Phe)
c.550G>T (p.Val184Phe)
c.3909G>T
c.4951G>T (p.Val1651Phe)
c.4405G>T (p.Val1469Phe)
c.4307-4243G>T (n.4307-4243G>T)
n.269G>T
n.253-4243G>T
n.40-4243G>T
c.638G>T
c.4678G>T (p.Val1560Phe)
c.4034-4243G>T (n.4034-4243G>T)
c.3313G>T (p.Val1105Phe)
c.5227G>T (p.Val1743Phe)
c.3488-4243G>T (n.3488-4243G>T)
c.4954G>T (p.Val1652Phe)
c.4408G>T (p.Val1470Phe)
c.4580-4243G>T (n.4580-4243G>T)
c.4135G>T (p.Val1379Phe)
c.3761-4243G>T (n.3761-4243G>T)
c.3586G>T (p.Val1196Phe)
c.5500G>T (p.Val1834Phe)
c.5224G>T (p.Val1742Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.115046584C=CA1874118924TNCc.318-4243G=
c.3215-4243G= (n.3215-4243G=)
c.3862G= (p.Val1288=)
c.1894G= (p.Val632=)
c.550G= (p.Val184=)
c.3909G=
c.4951G= (p.Val1651=)
c.4405G= (p.Val1469=)
c.4307-4243G= (n.4307-4243G=)
n.269G=
n.253-4243G=
n.40-4243G=
c.638G=
c.4678G= (p.Val1560=)
c.4034-4243G= (n.4034-4243G=)
c.3313G= (p.Val1105=)
c.5227G= (p.Val1743=)
c.3488-4243G= (n.3488-4243G=)
c.4954G= (p.Val1652=)
c.4408G= (p.Val1470=)
c.4580-4243G= (n.4580-4243G=)
c.4135G= (p.Val1379=)
c.3761-4243G= (n.3761-4243G=)
c.3586G= (p.Val1196=)
c.5500G= (p.Val1834=)
c.5224G= (p.Val1742=)
9g.115046584C>GCA374631154TNCc.318-4243G>C
c.3215-4243G>C (n.3215-4243G>C)
c.3862G>C (p.Val1288Leu)
c.1894G>C (p.Val632Leu)
c.550G>C (p.Val184Leu)
c.3909G>C
c.4951G>C (p.Val1651Leu)
c.4405G>C (p.Val1469Leu)
c.4307-4243G>C (n.4307-4243G>C)
n.269G>C
n.253-4243G>C
n.40-4243G>C
c.638G>C
c.4678G>C (p.Val1560Leu)
c.4034-4243G>C (n.4034-4243G>C)
c.3313G>C (p.Val1105Leu)
c.5227G>C (p.Val1743Leu)
c.3488-4243G>C (n.3488-4243G>C)
c.4954G>C (p.Val1652Leu)
c.4408G>C (p.Val1470Leu)
c.4580-4243G>C (n.4580-4243G>C)
c.4135G>C (p.Val1379Leu)
c.3761-4243G>C (n.3761-4243G>C)
c.3586G>C (p.Val1196Leu)
c.5500G>C (p.Val1834Leu)
c.5224G>C (p.Val1742Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.115046584C>TCA374631156TNCc.318-4243G>A
c.3215-4243G>A (n.3215-4243G>A)
c.3862G>A (p.Val1288Ile)
c.1894G>A (p.Val632Ile)
c.550G>A (p.Val184Ile)
c.3909G>A
c.4951G>A (p.Val1651Ile)
c.4405G>A (p.Val1469Ile)
c.4307-4243G>A (n.4307-4243G>A)
n.269G>A
n.253-4243G>A
n.40-4243G>A
c.638G>A
c.4678G>A (p.Val1560Ile)
c.4034-4243G>A (n.4034-4243G>A)
c.3313G>A (p.Val1105Ile)
c.5227G>A (p.Val1743Ile)
c.3488-4243G>A (n.3488-4243G>A)
c.4954G>A (p.Val1652Ile)
c.4408G>A (p.Val1470Ile)
c.4580-4243G>A (n.4580-4243G>A)
c.4135G>A (p.Val1379Ile)
c.3761-4243G>A (n.3761-4243G>A)
c.3586G>A (p.Val1196Ile)
c.5500G>A (p.Val1834Ile)
c.5224G>A (p.Val1742Ile)
 ClinVar dbSNP
9g.115046585A=CA1874118925TNCc.318-4244T=
c.3215-4244T= (n.3215-4244T=)
c.3861T= (p.Phe1287=)
c.1893T= (p.Phe631=)
c.549T= (p.Phe183=)
c.3908T=
c.4950T= (p.Phe1650=)
c.4404T= (p.Phe1468=)
c.4307-4244T= (n.4307-4244T=)
n.268T=
n.253-4244T=
n.40-4244T=
c.637T=
c.4677T= (p.Phe1559=)
c.4034-4244T= (n.4034-4244T=)
c.3312T= (p.Phe1104=)
c.5226T= (p.Phe1742=)
c.3488-4244T= (n.3488-4244T=)
c.4953T= (p.Phe1651=)
c.4407T= (p.Phe1469=)
c.4580-4244T= (n.4580-4244T=)
c.4134T= (p.Phe1378=)
c.3761-4244T= (n.3761-4244T=)
c.3585T= (p.Phe1195=)
c.5499T= (p.Phe1833=)
c.5223T= (p.Phe1741=)
9g.115046585A>CCA374631157TNCc.318-4244T>G
c.3215-4244T>G (n.3215-4244T>G)
c.3861T>G (p.Phe1287Leu)
c.1893T>G (p.Phe631Leu)
c.549T>G (p.Phe183Leu)
c.3908T>G
c.4950T>G (p.Phe1650Leu)
c.4404T>G (p.Phe1468Leu)
c.4307-4244T>G (n.4307-4244T>G)
n.268T>G
n.253-4244T>G
n.40-4244T>G
c.637T>G
c.4677T>G (p.Phe1559Leu)
c.4034-4244T>G (n.4034-4244T>G)
c.3312T>G (p.Phe1104Leu)
c.5226T>G (p.Phe1742Leu)
c.3488-4244T>G (n.3488-4244T>G)
c.4953T>G (p.Phe1651Leu)
c.4407T>G (p.Phe1469Leu)
c.4580-4244T>G (n.4580-4244T>G)
c.4134T>G (p.Phe1378Leu)
c.3761-4244T>G (n.3761-4244T>G)
c.3585T>G (p.Phe1195Leu)
c.5499T>G (p.Phe1833Leu)
c.5223T>G (p.Phe1741Leu)
9g.115046585A>GCA466912500TNCc.318-4244T>C
c.3215-4244T>C (n.3215-4244T>C)
c.3861T>C (p.Phe1287=)
c.1893T>C (p.Phe631=)
c.549T>C (p.Phe183=)
c.3908T>C
c.4950T>C (p.Phe1650=)
c.4404T>C (p.Phe1468=)
c.4307-4244T>C (n.4307-4244T>C)
n.268T>C
n.253-4244T>C
n.40-4244T>C
c.637T>C
c.4677T>C (p.Phe1559=)
c.4034-4244T>C (n.4034-4244T>C)
c.3312T>C (p.Phe1104=)
c.5226T>C (p.Phe1742=)
c.3488-4244T>C (n.3488-4244T>C)
c.4953T>C (p.Phe1651=)
c.4407T>C (p.Phe1469=)
c.4580-4244T>C (n.4580-4244T>C)
c.4134T>C (p.Phe1378=)
c.3761-4244T>C (n.3761-4244T>C)
c.3585T>C (p.Phe1195=)
c.5499T>C (p.Phe1833=)
c.5223T>C (p.Phe1741=)
9g.115046585A>TCA5207782TNCc.318-4244T>A
c.3215-4244T>A (n.3215-4244T>A)
c.3861T>A (p.Phe1287Leu)
c.1893T>A (p.Phe631Leu)
c.549T>A (p.Phe183Leu)
c.3908T>A
c.4950T>A (p.Phe1650Leu)
c.4404T>A (p.Phe1468Leu)
c.4307-4244T>A (n.4307-4244T>A)
n.268T>A
n.253-4244T>A
n.40-4244T>A
c.637T>A
c.4677T>A (p.Phe1559Leu)
c.4034-4244T>A (n.4034-4244T>A)
c.3312T>A (p.Phe1104Leu)
c.5226T>A (p.Phe1742Leu)
c.3488-4244T>A (n.3488-4244T>A)
c.4953T>A (p.Phe1651Leu)
c.4407T>A (p.Phe1469Leu)
c.4580-4244T>A (n.4580-4244T>A)
c.4134T>A (p.Phe1378Leu)
c.3761-4244T>A (n.3761-4244T>A)
c.3585T>A (p.Phe1195Leu)
c.5499T>A (p.Phe1833Leu)
c.5223T>A (p.Phe1741Leu)
 dbSNP ExAC gnomAD v3 gnomAD v4
9g.115046586A>CCA374631160TNCc.318-4245T>G
c.3215-4245T>G (n.3215-4245T>G)
c.3860T>G (p.Phe1287Cys)
c.1892T>G (p.Phe631Cys)
c.548T>G (p.Phe183Cys)
c.3907T>G
c.4949T>G (p.Phe1650Cys)
c.4403T>G (p.Phe1468Cys)
c.4307-4245T>G (n.4307-4245T>G)
n.267T>G
n.253-4245T>G
n.40-4245T>G
c.636T>G
c.4676T>G (p.Phe1559Cys)
c.4034-4245T>G (n.4034-4245T>G)
c.3311T>G (p.Phe1104Cys)
c.5225T>G (p.Phe1742Cys)
c.3488-4245T>G (n.3488-4245T>G)
c.4952T>G (p.Phe1651Cys)
c.4406T>G (p.Phe1469Cys)
c.4580-4245T>G (n.4580-4245T>G)
c.4133T>G (p.Phe1378Cys)
c.3761-4245T>G (n.3761-4245T>G)
c.3584T>G (p.Phe1195Cys)
c.5498T>G (p.Phe1833Cys)
c.5222T>G (p.Phe1741Cys)
9g.115046586A>GCA374631163TNCc.318-4245T>C
c.3215-4245T>C (n.3215-4245T>C)
c.3860T>C (p.Phe1287Ser)
c.1892T>C (p.Phe631Ser)
c.548T>C (p.Phe183Ser)
c.3907T>C
c.4949T>C (p.Phe1650Ser)
c.4403T>C (p.Phe1468Ser)
c.4307-4245T>C (n.4307-4245T>C)
n.267T>C
n.253-4245T>C
n.40-4245T>C
c.636T>C
c.4676T>C (p.Phe1559Ser)
c.4034-4245T>C (n.4034-4245T>C)
c.3311T>C (p.Phe1104Ser)
c.5225T>C (p.Phe1742Ser)
c.3488-4245T>C (n.3488-4245T>C)
c.4952T>C (p.Phe1651Ser)
c.4406T>C (p.Phe1469Ser)
c.4580-4245T>C (n.4580-4245T>C)
c.4133T>C (p.Phe1378Ser)
c.3761-4245T>C (n.3761-4245T>C)
c.3584T>C (p.Phe1195Ser)
c.5498T>C (p.Phe1833Ser)
c.5222T>C (p.Phe1741Ser)
9g.115046586A>TCA374631162TNCc.318-4245T>A
c.3215-4245T>A (n.3215-4245T>A)
c.3860T>A (p.Phe1287Tyr)
c.1892T>A (p.Phe631Tyr)
c.548T>A (p.Phe183Tyr)
c.3907T>A
c.4949T>A (p.Phe1650Tyr)
c.4403T>A (p.Phe1468Tyr)
c.4307-4245T>A (n.4307-4245T>A)
n.267T>A
n.253-4245T>A
n.40-4245T>A
c.636T>A
c.4676T>A (p.Phe1559Tyr)
c.4034-4245T>A (n.4034-4245T>A)
c.3311T>A (p.Phe1104Tyr)
c.5225T>A (p.Phe1742Tyr)
c.3488-4245T>A (n.3488-4245T>A)
c.4952T>A (p.Phe1651Tyr)
c.4406T>A (p.Phe1469Tyr)
c.4580-4245T>A (n.4580-4245T>A)
c.4133T>A (p.Phe1378Tyr)
c.3761-4245T>A (n.3761-4245T>A)
c.3584T>A (p.Phe1195Tyr)
c.5498T>A (p.Phe1833Tyr)
c.5222T>A (p.Phe1741Tyr)
9g.115046587A>CCA374631165TNCc.318-4246T>G
c.3215-4246T>G (n.3215-4246T>G)
c.3859T>G (p.Phe1287Val)
c.1891T>G (p.Phe631Val)
c.547T>G (p.Phe183Val)
c.3906T>G
c.4948T>G (p.Phe1650Val)
c.4402T>G (p.Phe1468Val)
c.4307-4246T>G (n.4307-4246T>G)
n.266T>G
n.253-4246T>G
n.40-4246T>G
c.635T>G
c.4675T>G (p.Phe1559Val)
c.4034-4246T>G (n.4034-4246T>G)
c.3310T>G (p.Phe1104Val)
c.5224T>G (p.Phe1742Val)
c.3488-4246T>G (n.3488-4246T>G)
c.4951T>G (p.Phe1651Val)
c.4405T>G (p.Phe1469Val)
c.4580-4246T>G (n.4580-4246T>G)
c.4132T>G (p.Phe1378Val)
c.3761-4246T>G (n.3761-4246T>G)
c.3583T>G (p.Phe1195Val)
c.5497T>G (p.Phe1833Val)
c.5221T>G (p.Phe1741Val)
9g.115046587A>GCA374631167TNCc.318-4246T>C
c.3215-4246T>C (n.3215-4246T>C)
c.3859T>C (p.Phe1287Leu)
c.1891T>C (p.Phe631Leu)
c.547T>C (p.Phe183Leu)
c.3906T>C
c.4948T>C (p.Phe1650Leu)
c.4402T>C (p.Phe1468Leu)
c.4307-4246T>C (n.4307-4246T>C)
n.266T>C
n.253-4246T>C
n.40-4246T>C
c.635T>C
c.4675T>C (p.Phe1559Leu)
c.4034-4246T>C (n.4034-4246T>C)
c.3310T>C (p.Phe1104Leu)
c.5224T>C (p.Phe1742Leu)
c.3488-4246T>C (n.3488-4246T>C)
c.4951T>C (p.Phe1651Leu)
c.4405T>C (p.Phe1469Leu)
c.4580-4246T>C (n.4580-4246T>C)
c.4132T>C (p.Phe1378Leu)
c.3761-4246T>C (n.3761-4246T>C)
c.3583T>C (p.Phe1195Leu)
c.5497T>C (p.Phe1833Leu)
c.5221T>C (p.Phe1741Leu)
9g.115046587A>TCA374631168TNCc.318-4246T>A
c.3215-4246T>A (n.3215-4246T>A)
c.3859T>A (p.Phe1287Ile)
c.1891T>A (p.Phe631Ile)
c.547T>A (p.Phe183Ile)
c.3906T>A
c.4948T>A (p.Phe1650Ile)
c.4402T>A (p.Phe1468Ile)
c.4307-4246T>A (n.4307-4246T>A)
n.266T>A
n.253-4246T>A
n.40-4246T>A
c.635T>A
c.4675T>A (p.Phe1559Ile)
c.4034-4246T>A (n.4034-4246T>A)
c.3310T>A (p.Phe1104Ile)
c.5224T>A (p.Phe1742Ile)
c.3488-4246T>A (n.3488-4246T>A)
c.4951T>A (p.Phe1651Ile)
c.4405T>A (p.Phe1469Ile)
c.4580-4246T>A (n.4580-4246T>A)
c.4132T>A (p.Phe1378Ile)
c.3761-4246T>A (n.3761-4246T>A)
c.3583T>A (p.Phe1195Ile)
c.5497T>A (p.Phe1833Ile)
c.5221T>A (p.Phe1741Ile)
9g.115046588A>CCA374631170TNCc.318-4247T>G
c.3215-4247T>G (n.3215-4247T>G)
c.3858T>G (p.Asn1286Lys)
c.1890T>G (p.Asn630Lys)
c.546T>G (p.Asn182Lys)
c.3905T>G
c.4947T>G (p.Asn1649Lys)
c.4401T>G (p.Asn1467Lys)
c.4307-4247T>G (n.4307-4247T>G)
n.265T>G
n.253-4247T>G
n.40-4247T>G
c.634T>G
c.4674T>G (p.Asn1558Lys)
c.4034-4247T>G (n.4034-4247T>G)
c.3309T>G (p.Asn1103Lys)
c.5223T>G (p.Asn1741Lys)
c.3488-4247T>G (n.3488-4247T>G)
c.4950T>G (p.Asn1650Lys)
c.4404T>G (p.Asn1468Lys)
c.4580-4247T>G (n.4580-4247T>G)
c.4131T>G (p.Asn1377Lys)
c.3761-4247T>G (n.3761-4247T>G)
c.3582T>G (p.Asn1194Lys)
c.5496T>G (p.Asn1832Lys)
c.5220T>G (p.Asn1740Lys)
9g.115046588A>GCA466912501TNCc.318-4247T>C
c.3215-4247T>C (n.3215-4247T>C)
c.3858T>C (p.Asn1286=)
c.1890T>C (p.Asn630=)
c.546T>C (p.Asn182=)
c.3905T>C
c.4947T>C (p.Asn1649=)
c.4401T>C (p.Asn1467=)
c.4307-4247T>C (n.4307-4247T>C)
n.265T>C
n.253-4247T>C
n.40-4247T>C
c.634T>C
c.4674T>C (p.Asn1558=)
c.4034-4247T>C (n.4034-4247T>C)
c.3309T>C (p.Asn1103=)
c.5223T>C (p.Asn1741=)
c.3488-4247T>C (n.3488-4247T>C)
c.4950T>C (p.Asn1650=)
c.4404T>C (p.Asn1468=)
c.4580-4247T>C (n.4580-4247T>C)
c.4131T>C (p.Asn1377=)
c.3761-4247T>C (n.3761-4247T>C)
c.3582T>C (p.Asn1194=)
c.5496T>C (p.Asn1832=)
c.5220T>C (p.Asn1740=)
9g.115046588A>TCA374631172TNCc.318-4247T>A
c.3215-4247T>A (n.3215-4247T>A)
c.3858T>A (p.Asn1286Lys)
c.1890T>A (p.Asn630Lys)
c.546T>A (p.Asn182Lys)
c.3905T>A
c.4947T>A (p.Asn1649Lys)
c.4401T>A (p.Asn1467Lys)
c.4307-4247T>A (n.4307-4247T>A)
n.265T>A
n.253-4247T>A
n.40-4247T>A
c.634T>A
c.4674T>A (p.Asn1558Lys)
c.4034-4247T>A (n.4034-4247T>A)
c.3309T>A (p.Asn1103Lys)
c.5223T>A (p.Asn1741Lys)
c.3488-4247T>A (n.3488-4247T>A)
c.4950T>A (p.Asn1650Lys)
c.4404T>A (p.Asn1468Lys)
c.4580-4247T>A (n.4580-4247T>A)
c.4131T>A (p.Asn1377Lys)
c.3761-4247T>A (n.3761-4247T>A)
c.3582T>A (p.Asn1194Lys)
c.5496T>A (p.Asn1832Lys)
c.5220T>A (p.Asn1740Lys)
9g.115046589T>ACA374631174TNCc.318-4248A>T
c.3215-4248A>T (n.3215-4248A>T)
c.3857A>T (p.Asn1286Ile)
c.1889A>T (p.Asn630Ile)
c.545A>T (p.Asn182Ile)
c.3904A>T
c.4946A>T (p.Asn1649Ile)
c.4400A>T (p.Asn1467Ile)
c.4307-4248A>T (n.4307-4248A>T)
n.264A>T
n.253-4248A>T
n.40-4248A>T
c.633A>T
c.4673A>T (p.Asn1558Ile)
c.4034-4248A>T (n.4034-4248A>T)
c.3308A>T (p.Asn1103Ile)
c.5222A>T (p.Asn1741Ile)
c.3488-4248A>T (n.3488-4248A>T)
c.4949A>T (p.Asn1650Ile)
c.4403A>T (p.Asn1468Ile)
c.4580-4248A>T (n.4580-4248A>T)
c.4130A>T (p.Asn1377Ile)
c.3761-4248A>T (n.3761-4248A>T)
c.3581A>T (p.Asn1194Ile)
c.5495A>T (p.Asn1832Ile)
c.5219A>T (p.Asn1740Ile)
9g.115046589T>CCA374631175TNCc.318-4248A>G
c.3215-4248A>G (n.3215-4248A>G)
c.3857A>G (p.Asn1286Ser)
c.1889A>G (p.Asn630Ser)
c.545A>G (p.Asn182Ser)
c.3904A>G
c.4946A>G (p.Asn1649Ser)
c.4400A>G (p.Asn1467Ser)
c.4307-4248A>G (n.4307-4248A>G)
n.264A>G
n.253-4248A>G
n.40-4248A>G
c.633A>G
c.4673A>G (p.Asn1558Ser)
c.4034-4248A>G (n.4034-4248A>G)
c.3308A>G (p.Asn1103Ser)
c.5222A>G (p.Asn1741Ser)
c.3488-4248A>G (n.3488-4248A>G)
c.4949A>G (p.Asn1650Ser)
c.4403A>G (p.Asn1468Ser)
c.4580-4248A>G (n.4580-4248A>G)
c.4130A>G (p.Asn1377Ser)
c.3761-4248A>G (n.3761-4248A>G)
c.3581A>G (p.Asn1194Ser)
c.5495A>G (p.Asn1832Ser)
c.5219A>G (p.Asn1740Ser)
9g.115046589T>GCA374631177TNCc.318-4248A>C
c.3215-4248A>C (n.3215-4248A>C)
c.3857A>C (p.Asn1286Thr)
c.1889A>C (p.Asn630Thr)
c.545A>C (p.Asn182Thr)
c.3904A>C
c.4946A>C (p.Asn1649Thr)
c.4400A>C (p.Asn1467Thr)
c.4307-4248A>C (n.4307-4248A>C)
n.264A>C
n.253-4248A>C
n.40-4248A>C
c.633A>C
c.4673A>C (p.Asn1558Thr)
c.4034-4248A>C (n.4034-4248A>C)
c.3308A>C (p.Asn1103Thr)
c.5222A>C (p.Asn1741Thr)
c.3488-4248A>C (n.3488-4248A>C)
c.4949A>C (p.Asn1650Thr)
c.4403A>C (p.Asn1468Thr)
c.4580-4248A>C (n.4580-4248A>C)
c.4130A>C (p.Asn1377Thr)
c.3761-4248A>C (n.3761-4248A>C)
c.3581A>C (p.Asn1194Thr)
c.5495A>C (p.Asn1832Thr)
c.5219A>C (p.Asn1740Thr)
9g.115046590T>ACA374631179TNCc.318-4249A>T
c.3215-4249A>T (n.3215-4249A>T)
c.3856A>T (p.Asn1286Tyr)
c.1888A>T (p.Asn630Tyr)
c.544A>T (p.Asn182Tyr)
c.3903A>T
c.4945A>T (p.Asn1649Tyr)
c.4399A>T (p.Asn1467Tyr)
c.4307-4249A>T (n.4307-4249A>T)
n.263A>T
n.253-4249A>T
n.40-4249A>T
c.632A>T
c.4672A>T (p.Asn1558Tyr)
c.4034-4249A>T (n.4034-4249A>T)
c.3307A>T (p.Asn1103Tyr)
c.5221A>T (p.Asn1741Tyr)
c.3488-4249A>T (n.3488-4249A>T)
c.4948A>T (p.Asn1650Tyr)
c.4402A>T (p.Asn1468Tyr)
c.4580-4249A>T (n.4580-4249A>T)
c.4129A>T (p.Asn1377Tyr)
c.3761-4249A>T (n.3761-4249A>T)
c.3580A>T (p.Asn1194Tyr)
c.5494A>T (p.Asn1832Tyr)
c.5218A>T (p.Asn1740Tyr)
 gnomAD v4
9g.115046590T>CCA374631181TNCc.318-4249A>G
c.3215-4249A>G (n.3215-4249A>G)
c.3856A>G (p.Asn1286Asp)
c.1888A>G (p.Asn630Asp)
c.544A>G (p.Asn182Asp)
c.3903A>G
c.4945A>G (p.Asn1649Asp)
c.4399A>G (p.Asn1467Asp)
c.4307-4249A>G (n.4307-4249A>G)
n.263A>G
n.253-4249A>G
n.40-4249A>G
c.632A>G
c.4672A>G (p.Asn1558Asp)
c.4034-4249A>G (n.4034-4249A>G)
c.3307A>G (p.Asn1103Asp)
c.5221A>G (p.Asn1741Asp)
c.3488-4249A>G (n.3488-4249A>G)
c.4948A>G (p.Asn1650Asp)
c.4402A>G (p.Asn1468Asp)
c.4580-4249A>G (n.4580-4249A>G)
c.4129A>G (p.Asn1377Asp)
c.3761-4249A>G (n.3761-4249A>G)
c.3580A>G (p.Asn1194Asp)
c.5494A>G (p.Asn1832Asp)
c.5218A>G (p.Asn1740Asp)
 gnomAD v4
9g.115046590T>GCA374631182TNCc.318-4249A>C
c.3215-4249A>C (n.3215-4249A>C)
c.3856A>C (p.Asn1286His)
c.1888A>C (p.Asn630His)
c.544A>C (p.Asn182His)
c.3903A>C
c.4945A>C (p.Asn1649His)
c.4399A>C (p.Asn1467His)
c.4307-4249A>C (n.4307-4249A>C)
n.263A>C
n.253-4249A>C
n.40-4249A>C
c.632A>C
c.4672A>C (p.Asn1558His)
c.4034-4249A>C (n.4034-4249A>C)
c.3307A>C (p.Asn1103His)
c.5221A>C (p.Asn1741His)
c.3488-4249A>C (n.3488-4249A>C)
c.4948A>C (p.Asn1650His)
c.4402A>C (p.Asn1468His)
c.4580-4249A>C (n.4580-4249A>C)
c.4129A>C (p.Asn1377His)
c.3761-4249A>C (n.3761-4249A>C)
c.3580A>C (p.Asn1194His)
c.5494A>C (p.Asn1832His)
c.5218A>C (p.Asn1740His)
9g.115046591G>ACA5207783TNCc.318-4250C>T
c.3215-4250C>T (n.3215-4250C>T)
c.3855C>T (p.Asp1285=)
c.1887C>T (p.Asp629=)
c.543C>T (p.Asp181=)
c.3902C>T
c.4944C>T (p.Asp1648=)
c.4398C>T (p.Asp1466=)
c.4307-4250C>T (n.4307-4250C>T)
n.262C>T
n.253-4250C>T
n.40-4250C>T
c.631C>T
c.4671C>T (p.Asp1557=)
c.4034-4250C>T (n.4034-4250C>T)
c.3306C>T (p.Asp1102=)
c.5220C>T (p.Asp1740=)
c.3488-4250C>T (n.3488-4250C>T)
c.4947C>T (p.Asp1649=)
c.4401C>T (p.Asp1467=)
c.4580-4250C>T (n.4580-4250C>T)
c.4128C>T (p.Asp1376=)
c.3761-4250C>T (n.3761-4250C>T)
c.3579C>T (p.Asp1193=)
c.5493C>T (p.Asp1831=)
c.5217C>T (p.Asp1739=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115046591G>CCA374631186TNCc.318-4250C>G
c.3215-4250C>G (n.3215-4250C>G)
c.3855C>G (p.Asp1285Glu)
c.1887C>G (p.Asp629Glu)
c.543C>G (p.Asp181Glu)
c.3902C>G
c.4944C>G (p.Asp1648Glu)
c.4398C>G (p.Asp1466Glu)
c.4307-4250C>G (n.4307-4250C>G)
n.262C>G
n.253-4250C>G
n.40-4250C>G
c.631C>G
c.4671C>G (p.Asp1557Glu)
c.4034-4250C>G (n.4034-4250C>G)
c.3306C>G (p.Asp1102Glu)
c.5220C>G (p.Asp1740Glu)
c.3488-4250C>G (n.3488-4250C>G)
c.4947C>G (p.Asp1649Glu)
c.4401C>G (p.Asp1467Glu)
c.4580-4250C>G (n.4580-4250C>G)
c.4128C>G (p.Asp1376Glu)
c.3761-4250C>G (n.3761-4250C>G)
c.3579C>G (p.Asp1193Glu)
c.5493C>G (p.Asp1831Glu)
c.5217C>G (p.Asp1739Glu)
9g.115046591G=CA1874118926TNCc.318-4250C=
c.3215-4250C= (n.3215-4250C=)
c.3855C= (p.Asp1285=)
c.1887C= (p.Asp629=)
c.543C= (p.Asp181=)
c.3902C=
c.4944C= (p.Asp1648=)
c.4398C= (p.Asp1466=)
c.4307-4250C= (n.4307-4250C=)
n.262C=
n.253-4250C=
n.40-4250C=
c.631C=
c.4671C= (p.Asp1557=)
c.4034-4250C= (n.4034-4250C=)
c.3306C= (p.Asp1102=)
c.5220C= (p.Asp1740=)
c.3488-4250C= (n.3488-4250C=)
c.4947C= (p.Asp1649=)
c.4401C= (p.Asp1467=)
c.4580-4250C= (n.4580-4250C=)
c.4128C= (p.Asp1376=)
c.3761-4250C= (n.3761-4250C=)
c.3579C= (p.Asp1193=)
c.5493C= (p.Asp1831=)
c.5217C= (p.Asp1739=)
9g.115046591G>TCA374631184TNCc.318-4250C>A
c.3215-4250C>A (n.3215-4250C>A)
c.3855C>A (p.Asp1285Glu)
c.1887C>A (p.Asp629Glu)
c.543C>A (p.Asp181Glu)
c.3902C>A
c.4944C>A (p.Asp1648Glu)
c.4398C>A (p.Asp1466Glu)
c.4307-4250C>A (n.4307-4250C>A)
n.262C>A
n.253-4250C>A
n.40-4250C>A
c.631C>A
c.4671C>A (p.Asp1557Glu)
c.4034-4250C>A (n.4034-4250C>A)
c.3306C>A (p.Asp1102Glu)
c.5220C>A (p.Asp1740Glu)
c.3488-4250C>A (n.3488-4250C>A)
c.4947C>A (p.Asp1649Glu)
c.4401C>A (p.Asp1467Glu)
c.4580-4250C>A (n.4580-4250C>A)
c.4128C>A (p.Asp1376Glu)
c.3761-4250C>A (n.3761-4250C>A)
c.3579C>A (p.Asp1193Glu)
c.5493C>A (p.Asp1831Glu)
c.5217C>A (p.Asp1739Glu)
 gnomAD v4
9g.115046592T>ACA5207784TNCc.318-4251A>T
c.3215-4251A>T (n.3215-4251A>T)
c.3854A>T (p.Asp1285Val)
c.1886A>T (p.Asp629Val)
c.542A>T (p.Asp181Val)
c.3901A>T
c.4943A>T (p.Asp1648Val)
c.4397A>T (p.Asp1466Val)
c.4307-4251A>T (n.4307-4251A>T)
n.261A>T
n.253-4251A>T
n.40-4251A>T
c.630A>T
c.4670A>T (p.Asp1557Val)
c.4034-4251A>T (n.4034-4251A>T)
c.3305A>T (p.Asp1102Val)
c.5219A>T (p.Asp1740Val)
c.3488-4251A>T (n.3488-4251A>T)
c.4946A>T (p.Asp1649Val)
c.4400A>T (p.Asp1467Val)
c.4580-4251A>T (n.4580-4251A>T)
c.4127A>T (p.Asp1376Val)
c.3761-4251A>T (n.3761-4251A>T)
c.3578A>T (p.Asp1193Val)
c.5492A>T (p.Asp1831Val)
c.5216A>T (p.Asp1739Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.115046592T>CCA374631188TNCc.318-4251A>G
c.3215-4251A>G (n.3215-4251A>G)
c.3854A>G (p.Asp1285Gly)
c.1886A>G (p.Asp629Gly)
c.542A>G (p.Asp181Gly)
c.3901A>G
c.4943A>G (p.Asp1648Gly)
c.4397A>G (p.Asp1466Gly)
c.4307-4251A>G (n.4307-4251A>G)
n.261A>G
n.253-4251A>G
n.40-4251A>G
c.630A>G
c.4670A>G (p.Asp1557Gly)
c.4034-4251A>G (n.4034-4251A>G)
c.3305A>G (p.Asp1102Gly)
c.5219A>G (p.Asp1740Gly)
c.3488-4251A>G (n.3488-4251A>G)
c.4946A>G (p.Asp1649Gly)
c.4400A>G (p.Asp1467Gly)
c.4580-4251A>G (n.4580-4251A>G)
c.4127A>G (p.Asp1376Gly)
c.3761-4251A>G (n.3761-4251A>G)
c.3578A>G (p.Asp1193Gly)
c.5492A>G (p.Asp1831Gly)
c.5216A>G (p.Asp1739Gly)
 dbSNP gnomAD v4
9g.115046592T>GCA374631190TNCc.318-4251A>C
c.3215-4251A>C (n.3215-4251A>C)
c.3854A>C (p.Asp1285Ala)
c.1886A>C (p.Asp629Ala)
c.542A>C (p.Asp181Ala)
c.3901A>C
c.4943A>C (p.Asp1648Ala)
c.4397A>C (p.Asp1466Ala)
c.4307-4251A>C (n.4307-4251A>C)
n.261A>C
n.253-4251A>C
n.40-4251A>C
c.630A>C
c.4670A>C (p.Asp1557Ala)
c.4034-4251A>C (n.4034-4251A>C)
c.3305A>C (p.Asp1102Ala)
c.5219A>C (p.Asp1740Ala)
c.3488-4251A>C (n.3488-4251A>C)
c.4946A>C (p.Asp1649Ala)
c.4400A>C (p.Asp1467Ala)
c.4580-4251A>C (n.4580-4251A>C)
c.4127A>C (p.Asp1376Ala)
c.3761-4251A>C (n.3761-4251A>C)
c.3578A>C (p.Asp1193Ala)
c.5492A>C (p.Asp1831Ala)
c.5216A>C (p.Asp1739Ala)
9g.115046592T=CA1874118927TNCc.318-4251A=
c.3215-4251A= (n.3215-4251A=)
c.3854A= (p.Asp1285=)
c.1886A= (p.Asp629=)
c.542A= (p.Asp181=)
c.3901A=
c.4943A= (p.Asp1648=)
c.4397A= (p.Asp1466=)
c.4307-4251A= (n.4307-4251A=)
n.261A=
n.253-4251A=
n.40-4251A=
c.630A=
c.4670A= (p.Asp1557=)
c.4034-4251A= (n.4034-4251A=)
c.3305A= (p.Asp1102=)
c.5219A= (p.Asp1740=)
c.3488-4251A= (n.3488-4251A=)
c.4946A= (p.Asp1649=)
c.4400A= (p.Asp1467=)
c.4580-4251A= (n.4580-4251A=)
c.4127A= (p.Asp1376=)
c.3761-4251A= (n.3761-4251A=)
c.3578A= (p.Asp1193=)
c.5492A= (p.Asp1831=)
c.5216A= (p.Asp1739=)
9g.115046593C>ACA374631192TNCc.318-4252G>T
c.3215-4252G>T (n.3215-4252G>T)
c.3853G>T (p.Asp1285Tyr)
c.1885G>T (p.Asp629Tyr)
c.541G>T (p.Asp181Tyr)
c.3900G>T
c.4942G>T (p.Asp1648Tyr)
c.4396G>T (p.Asp1466Tyr)
c.4307-4252G>T (n.4307-4252G>T)
n.260G>T
n.253-4252G>T
n.40-4252G>T
c.629G>T
c.4669G>T (p.Asp1557Tyr)
c.4034-4252G>T (n.4034-4252G>T)
c.3304G>T (p.Asp1102Tyr)
c.5218G>T (p.Asp1740Tyr)
c.3488-4252G>T (n.3488-4252G>T)
c.4945G>T (p.Asp1649Tyr)
c.4399G>T (p.Asp1467Tyr)
c.4580-4252G>T (n.4580-4252G>T)
c.4126G>T (p.Asp1376Tyr)
c.3761-4252G>T (n.3761-4252G>T)
c.3577G>T (p.Asp1193Tyr)
c.5491G>T (p.Asp1831Tyr)
c.5215G>T (p.Asp1739Tyr)
9g.115046593C=CA1874118929TNCc.318-4252G=
c.3215-4252G= (n.3215-4252G=)
c.3853G= (p.Asp1285=)
c.1885G= (p.Asp629=)
c.541G= (p.Asp181=)
c.3900G=
c.4942G= (p.Asp1648=)
c.4396G= (p.Asp1466=)
c.4307-4252G= (n.4307-4252G=)
n.260G=
n.253-4252G=
n.40-4252G=
c.629G=
c.4669G= (p.Asp1557=)
c.4034-4252G= (n.4034-4252G=)
c.3304G= (p.Asp1102=)
c.5218G= (p.Asp1740=)
c.3488-4252G= (n.3488-4252G=)
c.4945G= (p.Asp1649=)
c.4399G= (p.Asp1467=)
c.4580-4252G= (n.4580-4252G=)
c.4126G= (p.Asp1376=)
c.3761-4252G= (n.3761-4252G=)
c.3577G= (p.Asp1193=)
c.5491G= (p.Asp1831=)
c.5215G= (p.Asp1739=)
9g.115046593C>GCA374631194TNCc.318-4252G>C
c.3215-4252G>C (n.3215-4252G>C)
c.3853G>C (p.Asp1285His)
c.1885G>C (p.Asp629His)
c.541G>C (p.Asp181His)
c.3900G>C
c.4942G>C (p.Asp1648His)
c.4396G>C (p.Asp1466His)
c.4307-4252G>C (n.4307-4252G>C)
n.260G>C
n.253-4252G>C
n.40-4252G>C
c.629G>C
c.4669G>C (p.Asp1557His)
c.4034-4252G>C (n.4034-4252G>C)
c.3304G>C (p.Asp1102His)
c.5218G>C (p.Asp1740His)
c.3488-4252G>C (n.3488-4252G>C)
c.4945G>C (p.Asp1649His)
c.4399G>C (p.Asp1467His)
c.4580-4252G>C (n.4580-4252G>C)
c.4126G>C (p.Asp1376His)
c.3761-4252G>C (n.3761-4252G>C)
c.3577G>C (p.Asp1193His)
c.5491G>C (p.Asp1831His)
c.5215G>C (p.Asp1739His)
9g.115046593C>TCA374631195TNCc.318-4252G>A
c.3215-4252G>A (n.3215-4252G>A)
c.3853G>A (p.Asp1285Asn)
c.1885G>A (p.Asp629Asn)
c.541G>A (p.Asp181Asn)
c.3900G>A
c.4942G>A (p.Asp1648Asn)
c.4396G>A (p.Asp1466Asn)
c.4307-4252G>A (n.4307-4252G>A)
n.260G>A
n.253-4252G>A
n.40-4252G>A
c.629G>A
c.4669G>A (p.Asp1557Asn)
c.4034-4252G>A (n.4034-4252G>A)
c.3304G>A (p.Asp1102Asn)
c.5218G>A (p.Asp1740Asn)
c.3488-4252G>A (n.3488-4252G>A)
c.4945G>A (p.Asp1649Asn)
c.4399G>A (p.Asp1467Asn)
c.4580-4252G>A (n.4580-4252G>A)
c.4126G>A (p.Asp1376Asn)
c.3761-4252G>A (n.3761-4252G>A)
c.3577G>A (p.Asp1193Asn)
c.5491G>A (p.Asp1831Asn)
c.5215G>A (p.Asp1739Asn)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
9g.115046593_115046594delinsCGCA1874118928TNCc.318-4253_318-4252delinsCG
c.3215-4253_3215-4252delinsCG (n.3215-4253_3215-4252delinsCG)
c.3852_3853delinsCG (p.Phe1284=)
c.1884_1885delinsCG (p.Phe628=)
c.540_541delinsCG (p.Phe180=)
c.3899_3900delinsCG
c.4941_4942delinsCG (p.Phe1647=)
c.4395_4396delinsCG (p.Phe1465=)
c.4307-4253_4307-4252delinsCG (n.4307-4253_4307-4252delinsCG)
n.259_260delinsCG
n.253-4253_253-4252delinsCG
n.40-4253_40-4252delinsCG
c.628_629delinsCG
c.4668_4669delinsCG (p.Phe1556=)
c.4034-4253_4034-4252delinsCG (n.4034-4253_4034-4252delinsCG)
c.3303_3304delinsCG (p.Phe1101=)
c.5217_5218delinsCG (p.Phe1739=)
c.3488-4253_3488-4252delinsCG (n.3488-4253_3488-4252delinsCG)
c.4944_4945delinsCG (p.Phe1648=)
c.4398_4399delinsCG (p.Phe1466=)
c.4580-4253_4580-4252delinsCG (n.4580-4253_4580-4252delinsCG)
c.4125_4126delinsCG (p.Phe1375=)
c.3761-4253_3761-4252delinsCG (n.3761-4253_3761-4252delinsCG)
c.3576_3577delinsCG (p.Phe1192=)
c.5490_5491delinsCG (p.Phe1830=)
c.5214_5215delinsCG (p.Phe1738=)
9g.115046594delCA918540850TNCc.318-4253del
c.3215-4253del (n.3215-4253del)
c.3852del (p.Phe1284LeufsTer20)
c.1884del (p.Phe628LeufsTer20)
c.540del (p.Phe180LeufsTer20)
c.3899del
c.4941del (p.Phe1647LeufsTer20)
c.4395del (p.Phe1465LeufsTer20)
c.4307-4253del (n.4307-4253del)
n.259del
n.253-4253del
n.40-4253del
c.628del
c.4668del (p.Phe1556LeufsTer20)
c.4034-4253del (n.4034-4253del)
c.3303del (p.Phe1101LeufsTer20)
c.5217del (p.Phe1739LeufsTer20)
c.3488-4253del (n.3488-4253del)
c.4944del (p.Phe1648LeufsTer20)
c.4398del (p.Phe1466LeufsTer20)
c.4580-4253del (n.4580-4253del)
c.4125del (p.Phe1375LeufsTer20)
c.3761-4253del (n.3761-4253del)
c.3576del (p.Phe1192LeufsTer20)
c.5490del (p.Phe1830LeufsTer20)
c.5214del (p.Phe1738LeufsTer20)
 dbSNP
9g.115046594G>ACA5207785TNCc.318-4253C>T
c.3215-4253C>T (n.3215-4253C>T)
c.3852C>T (p.Phe1284=)
c.1884C>T (p.Phe628=)
c.540C>T (p.Phe180=)
c.3899C>T
c.4941C>T (p.Phe1647=)
c.4395C>T (p.Phe1465=)
c.4307-4253C>T (n.4307-4253C>T)
n.259C>T
n.253-4253C>T
n.40-4253C>T
c.628C>T
c.4668C>T (p.Phe1556=)
c.4034-4253C>T (n.4034-4253C>T)
c.3303C>T (p.Phe1101=)
c.5217C>T (p.Phe1739=)
c.3488-4253C>T (n.3488-4253C>T)
c.4944C>T (p.Phe1648=)
c.4398C>T (p.Phe1466=)
c.4580-4253C>T (n.4580-4253C>T)
c.4125C>T (p.Phe1375=)
c.3761-4253C>T (n.3761-4253C>T)
c.3576C>T (p.Phe1192=)
c.5490C>T (p.Phe1830=)
c.5214C>T (p.Phe1738=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.115046594G>CCA374631198TNCc.318-4253C>G
c.3215-4253C>G (n.3215-4253C>G)
c.3852C>G (p.Phe1284Leu)
c.1884C>G (p.Phe628Leu)
c.540C>G (p.Phe180Leu)
c.3899C>G
c.4941C>G (p.Phe1647Leu)
c.4395C>G (p.Phe1465Leu)
c.4307-4253C>G (n.4307-4253C>G)
n.259C>G
n.253-4253C>G
n.40-4253C>G
c.628C>G
c.4668C>G (p.Phe1556Leu)
c.4034-4253C>G (n.4034-4253C>G)
c.3303C>G (p.Phe1101Leu)
c.5217C>G (p.Phe1739Leu)
c.3488-4253C>G (n.3488-4253C>G)
c.4944C>G (p.Phe1648Leu)
c.4398C>G (p.Phe1466Leu)
c.4580-4253C>G (n.4580-4253C>G)
c.4125C>G (p.Phe1375Leu)
c.3761-4253C>G (n.3761-4253C>G)
c.3576C>G (p.Phe1192Leu)
c.5490C>G (p.Phe1830Leu)
c.5214C>G (p.Phe1738Leu)
9g.115046594G=CA1874118930TNCc.318-4253C=
c.3215-4253C= (n.3215-4253C=)
c.3852C= (p.Phe1284=)
c.1884C= (p.Phe628=)
c.540C= (p.Phe180=)
c.3899C=
c.4941C= (p.Phe1647=)
c.4395C= (p.Phe1465=)
c.4307-4253C= (n.4307-4253C=)
n.259C=
n.253-4253C=
n.40-4253C=
c.628C=
c.4668C= (p.Phe1556=)
c.4034-4253C= (n.4034-4253C=)
c.3303C= (p.Phe1101=)
c.5217C= (p.Phe1739=)
c.3488-4253C= (n.3488-4253C=)
c.4944C= (p.Phe1648=)
c.4398C= (p.Phe1466=)
c.4580-4253C= (n.4580-4253C=)
c.4125C= (p.Phe1375=)
c.3761-4253C= (n.3761-4253C=)
c.3576C= (p.Phe1192=)
c.5490C= (p.Phe1830=)
c.5214C= (p.Phe1738=)
9g.115046594G>TCA374631199TNCc.318-4253C>A
c.3215-4253C>A (n.3215-4253C>A)
c.3852C>A (p.Phe1284Leu)
c.1884C>A (p.Phe628Leu)
c.540C>A (p.Phe180Leu)
c.3899C>A
c.4941C>A (p.Phe1647Leu)
c.4395C>A (p.Phe1465Leu)
c.4307-4253C>A (n.4307-4253C>A)
n.259C>A
n.253-4253C>A
n.40-4253C>A
c.628C>A
c.4668C>A (p.Phe1556Leu)
c.4034-4253C>A (n.4034-4253C>A)
c.3303C>A (p.Phe1101Leu)
c.5217C>A (p.Phe1739Leu)
c.3488-4253C>A (n.3488-4253C>A)
c.4944C>A (p.Phe1648Leu)
c.4398C>A (p.Phe1466Leu)
c.4580-4253C>A (n.4580-4253C>A)
c.4125C>A (p.Phe1375Leu)
c.3761-4253C>A (n.3761-4253C>A)
c.3576C>A (p.Phe1192Leu)
c.5490C>A (p.Phe1830Leu)
c.5214C>A (p.Phe1738Leu)
9g.115046595A>CCA374631201TNCc.318-4254T>G
c.3215-4254T>G (n.3215-4254T>G)
c.3851T>G (p.Phe1284Cys)
c.1883T>G (p.Phe628Cys)
c.539T>G (p.Phe180Cys)
c.3898T>G
c.4940T>G (p.Phe1647Cys)
c.4394T>G (p.Phe1465Cys)
c.4307-4254T>G (n.4307-4254T>G)
n.258T>G
n.253-4254T>G
n.40-4254T>G
c.627T>G
c.4667T>G (p.Phe1556Cys)
c.4034-4254T>G (n.4034-4254T>G)
c.3302T>G (p.Phe1101Cys)
c.5216T>G (p.Phe1739Cys)
c.3488-4254T>G (n.3488-4254T>G)
c.4943T>G (p.Phe1648Cys)
c.4397T>G (p.Phe1466Cys)
c.4580-4254T>G (n.4580-4254T>G)
c.4124T>G (p.Phe1375Cys)
c.3761-4254T>G (n.3761-4254T>G)
c.3575T>G (p.Phe1192Cys)
c.5489T>G (p.Phe1830Cys)
c.5213T>G (p.Phe1738Cys)
9g.115046595A>GCA374631203TNCc.318-4254T>C
c.3215-4254T>C (n.3215-4254T>C)
c.3851T>C (p.Phe1284Ser)
c.1883T>C (p.Phe628Ser)
c.539T>C (p.Phe180Ser)
c.3898T>C
c.4940T>C (p.Phe1647Ser)
c.4394T>C (p.Phe1465Ser)
c.4307-4254T>C (n.4307-4254T>C)
n.258T>C
n.253-4254T>C
n.40-4254T>C
c.627T>C
c.4667T>C (p.Phe1556Ser)
c.4034-4254T>C (n.4034-4254T>C)
c.3302T>C (p.Phe1101Ser)
c.5216T>C (p.Phe1739Ser)
c.3488-4254T>C (n.3488-4254T>C)
c.4943T>C (p.Phe1648Ser)
c.4397T>C (p.Phe1466Ser)
c.4580-4254T>C (n.4580-4254T>C)
c.4124T>C (p.Phe1375Ser)
c.3761-4254T>C (n.3761-4254T>C)
c.3575T>C (p.Phe1192Ser)
c.5489T>C (p.Phe1830Ser)
c.5213T>C (p.Phe1738Ser)
9g.115046595A>TCA374631205TNCc.318-4254T>A
c.3215-4254T>A (n.3215-4254T>A)
c.3851T>A (p.Phe1284Tyr)
c.1883T>A (p.Phe628Tyr)
c.539T>A (p.Phe180Tyr)
c.3898T>A
c.4940T>A (p.Phe1647Tyr)
c.4394T>A (p.Phe1465Tyr)
c.4307-4254T>A (n.4307-4254T>A)
n.258T>A
n.253-4254T>A
n.40-4254T>A
c.627T>A
c.4667T>A (p.Phe1556Tyr)
c.4034-4254T>A (n.4034-4254T>A)
c.3302T>A (p.Phe1101Tyr)
c.5216T>A (p.Phe1739Tyr)
c.3488-4254T>A (n.3488-4254T>A)
c.4943T>A (p.Phe1648Tyr)
c.4397T>A (p.Phe1466Tyr)
c.4580-4254T>A (n.4580-4254T>A)
c.4124T>A (p.Phe1375Tyr)
c.3761-4254T>A (n.3761-4254T>A)
c.3575T>A (p.Phe1192Tyr)
c.5489T>A (p.Phe1830Tyr)
c.5213T>A (p.Phe1738Tyr)
9g.115046596A=CA1874118931TNCc.318-4255T=
c.3215-4255T= (n.3215-4255T=)
c.3850T= (p.Phe1284=)
c.1882T= (p.Phe628=)
c.538T= (p.Phe180=)
c.3897T=
c.4939T= (p.Phe1647=)
c.4393T= (p.Phe1465=)
c.4307-4255T= (n.4307-4255T=)
n.257T=
n.253-4255T=
n.40-4255T=
c.626T=
c.4666T= (p.Phe1556=)
c.4034-4255T= (n.4034-4255T=)
c.3301T= (p.Phe1101=)
c.5215T= (p.Phe1739=)
c.3488-4255T= (n.3488-4255T=)
c.4942T= (p.Phe1648=)
c.4396T= (p.Phe1466=)
c.4580-4255T= (n.4580-4255T=)
c.4123T= (p.Phe1375=)
c.3761-4255T= (n.3761-4255T=)
c.3574T= (p.Phe1192=)
c.5488T= (p.Phe1830=)
c.5212T= (p.Phe1738=)
9g.115046596A>CCA374631206TNCc.318-4255T>G
c.3215-4255T>G (n.3215-4255T>G)
c.3850T>G (p.Phe1284Val)
c.1882T>G (p.Phe628Val)
c.538T>G (p.Phe180Val)
c.3897T>G
c.4939T>G (p.Phe1647Val)
c.4393T>G (p.Phe1465Val)
c.4307-4255T>G (n.4307-4255T>G)
n.257T>G
n.253-4255T>G
n.40-4255T>G
c.626T>G
c.4666T>G (p.Phe1556Val)
c.4034-4255T>G (n.4034-4255T>G)
c.3301T>G (p.Phe1101Val)
c.5215T>G (p.Phe1739Val)
c.3488-4255T>G (n.3488-4255T>G)
c.4942T>G (p.Phe1648Val)
c.4396T>G (p.Phe1466Val)
c.4580-4255T>G (n.4580-4255T>G)
c.4123T>G (p.Phe1375Val)
c.3761-4255T>G (n.3761-4255T>G)
c.3574T>G (p.Phe1192Val)
c.5488T>G (p.Phe1830Val)
c.5212T>G (p.Phe1738Val)
 dbSNP gnomAD v2 gnomAD v4
9g.115046596A>GCA374631210TNCc.318-4255T>C
c.3215-4255T>C (n.3215-4255T>C)
c.3850T>C (p.Phe1284Leu)
c.1882T>C (p.Phe628Leu)
c.538T>C (p.Phe180Leu)
c.3897T>C
c.4939T>C (p.Phe1647Leu)
c.4393T>C (p.Phe1465Leu)
c.4307-4255T>C (n.4307-4255T>C)
n.257T>C
n.253-4255T>C
n.40-4255T>C
c.626T>C
c.4666T>C (p.Phe1556Leu)
c.4034-4255T>C (n.4034-4255T>C)
c.3301T>C (p.Phe1101Leu)
c.5215T>C (p.Phe1739Leu)
c.3488-4255T>C (n.3488-4255T>C)
c.4942T>C (p.Phe1648Leu)
c.4396T>C (p.Phe1466Leu)
c.4580-4255T>C (n.4580-4255T>C)
c.4123T>C (p.Phe1375Leu)
c.3761-4255T>C (n.3761-4255T>C)
c.3574T>C (p.Phe1192Leu)
c.5488T>C (p.Phe1830Leu)
c.5212T>C (p.Phe1738Leu)
 dbSNP
9g.115046596A>TCA374631208TNCc.318-4255T>A
c.3215-4255T>A (n.3215-4255T>A)
c.3850T>A (p.Phe1284Ile)
c.1882T>A (p.Phe628Ile)
c.538T>A (p.Phe180Ile)
c.3897T>A
c.4939T>A (p.Phe1647Ile)
c.4393T>A (p.Phe1465Ile)
c.4307-4255T>A (n.4307-4255T>A)
n.257T>A
n.253-4255T>A
n.40-4255T>A
c.626T>A
c.4666T>A (p.Phe1556Ile)
c.4034-4255T>A (n.4034-4255T>A)
c.3301T>A (p.Phe1101Ile)
c.5215T>A (p.Phe1739Ile)
c.3488-4255T>A (n.3488-4255T>A)
c.4942T>A (p.Phe1648Ile)
c.4396T>A (p.Phe1466Ile)
c.4580-4255T>A (n.4580-4255T>A)
c.4123T>A (p.Phe1375Ile)
c.3761-4255T>A (n.3761-4255T>A)
c.3574T>A (p.Phe1192Ile)
c.5488T>A (p.Phe1830Ile)
c.5212T>A (p.Phe1738Ile)
9g.115046597G>ACA466912512TNCc.318-4256C>T
c.3215-4256C>T (n.3215-4256C>T)
c.3849C>T (p.Val1283=)
c.1881C>T (p.Val627=)
c.537C>T (p.Val179=)
c.3896C>T
c.4938C>T (p.Val1646=)
c.4392C>T (p.Val1464=)
c.4307-4256C>T (n.4307-4256C>T)
n.256C>T
n.253-4256C>T
n.40-4256C>T
c.625C>T
c.4665C>T (p.Val1555=)
c.4034-4256C>T (n.4034-4256C>T)
c.3300C>T (p.Val1100=)
c.5214C>T (p.Val1738=)
c.3488-4256C>T (n.3488-4256C>T)
c.4941C>T (p.Val1647=)
c.4395C>T (p.Val1465=)
c.4580-4256C>T (n.4580-4256C>T)
c.4122C>T (p.Val1374=)
c.3761-4256C>T (n.3761-4256C>T)
c.3573C>T (p.Val1191=)
c.5487C>T (p.Val1829=)
c.5211C>T (p.Val1737=)
9g.115046597G>CCA466912514TNCc.318-4256C>G
c.3215-4256C>G (n.3215-4256C>G)
c.3849C>G (p.Val1283=)
c.1881C>G (p.Val627=)
c.537C>G (p.Val179=)
c.3896C>G
c.4938C>G (p.Val1646=)
c.4392C>G (p.Val1464=)
c.4307-4256C>G (n.4307-4256C>G)
n.256C>G
n.253-4256C>G
n.40-4256C>G
c.625C>G
c.4665C>G (p.Val1555=)
c.4034-4256C>G (n.4034-4256C>G)
c.3300C>G (p.Val1100=)
c.5214C>G (p.Val1738=)
c.3488-4256C>G (n.3488-4256C>G)
c.4941C>G (p.Val1647=)
c.4395C>G (p.Val1465=)
c.4580-4256C>G (n.4580-4256C>G)
c.4122C>G (p.Val1374=)
c.3761-4256C>G (n.3761-4256C>G)
c.3573C>G (p.Val1191=)
c.5487C>G (p.Val1829=)
c.5211C>G (p.Val1737=)
9g.115046597G=CA1874118932TNCc.318-4256C=
c.3215-4256C= (n.3215-4256C=)
c.3849C= (p.Val1283=)
c.1881C= (p.Val627=)
c.537C= (p.Val179=)
c.3896C=
c.4938C= (p.Val1646=)
c.4392C= (p.Val1464=)
c.4307-4256C= (n.4307-4256C=)
n.256C=
n.253-4256C=
n.40-4256C=
c.625C=
c.4665C= (p.Val1555=)
c.4034-4256C= (n.4034-4256C=)
c.3300C= (p.Val1100=)
c.5214C= (p.Val1738=)
c.3488-4256C= (n.3488-4256C=)
c.4941C= (p.Val1647=)
c.4395C= (p.Val1465=)
c.4580-4256C= (n.4580-4256C=)
c.4122C= (p.Val1374=)
c.3761-4256C= (n.3761-4256C=)
c.3573C= (p.Val1191=)
c.5487C= (p.Val1829=)
c.5211C= (p.Val1737=)
9g.115046597G>TCA466912513TNCc.318-4256C>A
c.3215-4256C>A (n.3215-4256C>A)
c.3849C>A (p.Val1283=)
c.1881C>A (p.Val627=)
c.537C>A (p.Val179=)
c.3896C>A
c.4938C>A (p.Val1646=)
c.4392C>A (p.Val1464=)
c.4307-4256C>A (n.4307-4256C>A)
n.256C>A
n.253-4256C>A
n.40-4256C>A
c.625C>A
c.4665C>A (p.Val1555=)
c.4034-4256C>A (n.4034-4256C>A)
c.3300C>A (p.Val1100=)
c.5214C>A (p.Val1738=)
c.3488-4256C>A (n.3488-4256C>A)
c.4941C>A (p.Val1647=)
c.4395C>A (p.Val1465=)
c.4580-4256C>A (n.4580-4256C>A)
c.4122C>A (p.Val1374=)
c.3761-4256C>A (n.3761-4256C>A)
c.3573C>A (p.Val1191=)
c.5487C>A (p.Val1829=)
c.5211C>A (p.Val1737=)
 dbSNP
9g.115046598A>CCA374631212TNCc.318-4257T>G
c.3215-4257T>G (n.3215-4257T>G)
c.3848T>G (p.Val1283Gly)
c.1880T>G (p.Val627Gly)
c.536T>G (p.Val179Gly)
c.3895T>G
c.4937T>G (p.Val1646Gly)
c.4391T>G (p.Val1464Gly)
c.4307-4257T>G (n.4307-4257T>G)
n.255T>G
n.253-4257T>G
n.40-4257T>G
c.624T>G
c.4664T>G (p.Val1555Gly)
c.4034-4257T>G (n.4034-4257T>G)
c.3299T>G (p.Val1100Gly)
c.5213T>G (p.Val1738Gly)
c.3488-4257T>G (n.3488-4257T>G)
c.4940T>G (p.Val1647Gly)
c.4394T>G (p.Val1465Gly)
c.4580-4257T>G (n.4580-4257T>G)
c.4121T>G (p.Val1374Gly)
c.3761-4257T>G (n.3761-4257T>G)
c.3572T>G (p.Val1191Gly)
c.5486T>G (p.Val1829Gly)
c.5210T>G (p.Val1737Gly)
9g.115046598A>GCA374631215TNCc.318-4257T>C
c.3215-4257T>C (n.3215-4257T>C)
c.3848T>C (p.Val1283Ala)
c.1880T>C (p.Val627Ala)
c.536T>C (p.Val179Ala)
c.3895T>C
c.4937T>C (p.Val1646Ala)
c.4391T>C (p.Val1464Ala)
c.4307-4257T>C (n.4307-4257T>C)
n.255T>C
n.253-4257T>C
n.40-4257T>C
c.624T>C
c.4664T>C (p.Val1555Ala)
c.4034-4257T>C (n.4034-4257T>C)
c.3299T>C (p.Val1100Ala)
c.5213T>C (p.Val1738Ala)
c.3488-4257T>C (n.3488-4257T>C)
c.4940T>C (p.Val1647Ala)
c.4394T>C (p.Val1465Ala)
c.4580-4257T>C (n.4580-4257T>C)
c.4121T>C (p.Val1374Ala)
c.3761-4257T>C (n.3761-4257T>C)
c.3572T>C (p.Val1191Ala)
c.5486T>C (p.Val1829Ala)
c.5210T>C (p.Val1737Ala)
9g.115046598A>TCA374631213TNCc.318-4257T>A
c.3215-4257T>A (n.3215-4257T>A)
c.3848T>A (p.Val1283Asp)
c.1880T>A (p.Val627Asp)
c.536T>A (p.Val179Asp)
c.3895T>A
c.4937T>A (p.Val1646Asp)
c.4391T>A (p.Val1464Asp)
c.4307-4257T>A (n.4307-4257T>A)
n.255T>A
n.253-4257T>A
n.40-4257T>A
c.624T>A
c.4664T>A (p.Val1555Asp)
c.4034-4257T>A (n.4034-4257T>A)
c.3299T>A (p.Val1100Asp)
c.5213T>A (p.Val1738Asp)
c.3488-4257T>A (n.3488-4257T>A)
c.4940T>A (p.Val1647Asp)
c.4394T>A (p.Val1465Asp)
c.4580-4257T>A (n.4580-4257T>A)
c.4121T>A (p.Val1374Asp)
c.3761-4257T>A (n.3761-4257T>A)
c.3572T>A (p.Val1191Asp)
c.5486T>A (p.Val1829Asp)
c.5210T>A (p.Val1737Asp)
9g.115046599C>ACA374631216TNCc.318-4258G>T
c.3215-4258G>T (n.3215-4258G>T)
c.3847G>T (p.Val1283Phe)
c.1879G>T (p.Val627Phe)
c.535G>T (p.Val179Phe)
c.3894G>T
c.4936G>T (p.Val1646Phe)
c.4390G>T (p.Val1464Phe)
c.4307-4258G>T (n.4307-4258G>T)
n.254G>T
n.253-4258G>T
n.40-4258G>T
c.623G>T
c.4663G>T (p.Val1555Phe)
c.4034-4258G>T (n.4034-4258G>T)
c.3298G>T (p.Val1100Phe)
c.5212G>T (p.Val1738Phe)
c.3488-4258G>T (n.3488-4258G>T)
c.4939G>T (p.Val1647Phe)
c.4393G>T (p.Val1465Phe)
c.4580-4258G>T (n.4580-4258G>T)
c.4120G>T (p.Val1374Phe)
c.3761-4258G>T (n.3761-4258G>T)
c.3571G>T (p.Val1191Phe)
c.5485G>T (p.Val1829Phe)
c.5209G>T (p.Val1737Phe)
 dbSNP gnomAD v2 gnomAD v4
9g.115046599C=CA1874118933TNCc.318-4258G=
c.3215-4258G= (n.3215-4258G=)
c.3847G= (p.Val1283=)
c.1879G= (p.Val627=)
c.535G= (p.Val179=)
c.3894G=
c.4936G= (p.Val1646=)
c.4390G= (p.Val1464=)
c.4307-4258G= (n.4307-4258G=)
n.254G=
n.253-4258G=
n.40-4258G=
c.623G=
c.4663G= (p.Val1555=)
c.4034-4258G= (n.4034-4258G=)
c.3298G= (p.Val1100=)
c.5212G= (p.Val1738=)
c.3488-4258G= (n.3488-4258G=)
c.4939G= (p.Val1647=)
c.4393G= (p.Val1465=)
c.4580-4258G= (n.4580-4258G=)
c.4120G= (p.Val1374=)
c.3761-4258G= (n.3761-4258G=)
c.3571G= (p.Val1191=)
c.5485G= (p.Val1829=)
c.5209G= (p.Val1737=)
9g.115046599C>GCA374631218TNCc.318-4258G>C
c.3215-4258G>C (n.3215-4258G>C)
c.3847G>C (p.Val1283Leu)
c.1879G>C (p.Val627Leu)
c.535G>C (p.Val179Leu)
c.3894G>C
c.4936G>C (p.Val1646Leu)
c.4390G>C (p.Val1464Leu)
c.4307-4258G>C (n.4307-4258G>C)
n.254G>C
n.253-4258G>C
n.40-4258G>C
c.623G>C
c.4663G>C (p.Val1555Leu)
c.4034-4258G>C (n.4034-4258G>C)
c.3298G>C (p.Val1100Leu)
c.5212G>C (p.Val1738Leu)
c.3488-4258G>C (n.3488-4258G>C)
c.4939G>C (p.Val1647Leu)
c.4393G>C (p.Val1465Leu)
c.4580-4258G>C (n.4580-4258G>C)
c.4120G>C (p.Val1374Leu)
c.3761-4258G>C (n.3761-4258G>C)
c.3571G>C (p.Val1191Leu)
c.5485G>C (p.Val1829Leu)
c.5209G>C (p.Val1737Leu)
9g.115046599C>TCA374631219TNCc.318-4258G>A
c.3215-4258G>A (n.3215-4258G>A)
c.3847G>A (p.Val1283Ile)
c.1879G>A (p.Val627Ile)
c.535G>A (p.Val179Ile)
c.3894G>A
c.4936G>A (p.Val1646Ile)
c.4390G>A (p.Val1464Ile)
c.4307-4258G>A (n.4307-4258G>A)
n.254G>A
n.253-4258G>A
n.40-4258G>A
c.623G>A
c.4663G>A (p.Val1555Ile)
c.4034-4258G>A (n.4034-4258G>A)
c.3298G>A (p.Val1100Ile)
c.5212G>A (p.Val1738Ile)
c.3488-4258G>A (n.3488-4258G>A)
c.4939G>A (p.Val1647Ile)
c.4393G>A (p.Val1465Ile)
c.4580-4258G>A (n.4580-4258G>A)
c.4120G>A (p.Val1374Ile)
c.3761-4258G>A (n.3761-4258G>A)
c.3571G>A (p.Val1191Ile)
c.5485G>A (p.Val1829Ile)
c.5209G>A (p.Val1737Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.115046600C>ACA466912517TNCc.318-4259G>T
c.3215-4259G>T (n.3215-4259G>T)
c.3846G>T (p.Gly1282=)
c.1878G>T (p.Gly626=)
c.534G>T (p.Gly178=)
c.3893G>T
c.4935G>T (p.Gly1645=)
c.4389G>T (p.Gly1463=)
c.4307-4259G>T (n.4307-4259G>T)
n.253G>T
n.253-4259G>T
n.40-4259G>T
c.622G>T
c.4662G>T (p.Gly1554=)
c.4034-4259G>T (n.4034-4259G>T)
c.3297G>T (p.Gly1099=)
c.5211G>T (p.Gly1737=)
c.3488-4259G>T (n.3488-4259G>T)
c.4938G>T (p.Gly1646=)
c.4392G>T (p.Gly1464=)
c.4580-4259G>T (n.4580-4259G>T)
c.4119G>T (p.Gly1373=)
c.3761-4259G>T (n.3761-4259G>T)
c.3570G>T (p.Gly1190=)
c.5484G>T (p.Gly1828=)
c.5208G>T (p.Gly1736=)
9g.115046600C=CA1874118934TNCc.318-4259G=
c.3215-4259G= (n.3215-4259G=)
c.3846G= (p.Gly1282=)
c.1878G= (p.Gly626=)
c.534G= (p.Gly178=)
c.3893G=
c.4935G= (p.Gly1645=)
c.4389G= (p.Gly1463=)
c.4307-4259G= (n.4307-4259G=)
n.253G=
n.253-4259G=
n.40-4259G=
c.622G=
c.4662G= (p.Gly1554=)
c.4034-4259G= (n.4034-4259G=)
c.3297G= (p.Gly1099=)
c.5211G= (p.Gly1737=)
c.3488-4259G= (n.3488-4259G=)
c.4938G= (p.Gly1646=)
c.4392G= (p.Gly1464=)
c.4580-4259G= (n.4580-4259G=)
c.4119G= (p.Gly1373=)
c.3761-4259G= (n.3761-4259G=)
c.3570G= (p.Gly1190=)
c.5484G= (p.Gly1828=)
c.5208G= (p.Gly1736=)
9g.115046600C>GCA466912518TNCc.318-4259G>C
c.3215-4259G>C (n.3215-4259G>C)
c.3846G>C (p.Gly1282=)
c.1878G>C (p.Gly626=)
c.534G>C (p.Gly178=)
c.3893G>C
c.4935G>C (p.Gly1645=)
c.4389G>C (p.Gly1463=)
c.4307-4259G>C (n.4307-4259G>C)
n.253G>C
n.253-4259G>C
n.40-4259G>C
c.622G>C
c.4662G>C (p.Gly1554=)
c.4034-4259G>C (n.4034-4259G>C)
c.3297G>C (p.Gly1099=)
c.5211G>C (p.Gly1737=)
c.3488-4259G>C (n.3488-4259G>C)
c.4938G>C (p.Gly1646=)
c.4392G>C (p.Gly1464=)
c.4580-4259G>C (n.4580-4259G>C)
c.4119G>C (p.Gly1373=)
c.3761-4259G>C (n.3761-4259G>C)
c.3570G>C (p.Gly1190=)
c.5484G>C (p.Gly1828=)
c.5208G>C (p.Gly1736=)
9g.115046600C>TCA466912520TNCc.318-4259G>A
c.3215-4259G>A (n.3215-4259G>A)
c.3846G>A (p.Gly1282=)
c.1878G>A (p.Gly626=)
c.534G>A (p.Gly178=)
c.3893G>A
c.4935G>A (p.Gly1645=)
c.4389G>A (p.Gly1463=)
c.4307-4259G>A (n.4307-4259G>A)
n.253G>A
n.253-4259G>A
n.40-4259G>A
c.622G>A
c.4662G>A (p.Gly1554=)
c.4034-4259G>A (n.4034-4259G>A)
c.3297G>A (p.Gly1099=)
c.5211G>A (p.Gly1737=)
c.3488-4259G>A (n.3488-4259G>A)
c.4938G>A (p.Gly1646=)
c.4392G>A (p.Gly1464=)
c.4580-4259G>A (n.4580-4259G>A)
c.4119G>A (p.Gly1373=)
c.3761-4259G>A (n.3761-4259G>A)
c.3570G>A (p.Gly1190=)
c.5484G>A (p.Gly1828=)
c.5208G>A (p.Gly1736=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
9g.115046601C>ACA374631220TNCc.318-4260G>T
c.3215-4260G>T (n.3215-4260G>T)
c.3845G>T (p.Gly1282Val)
c.1877G>T (p.Gly626Val)
c.533G>T (p.Gly178Val)
c.3892G>T
c.4934G>T (p.Gly1645Val)
c.4388G>T (p.Gly1463Val)
c.4307-4260G>T (n.4307-4260G>T)
n.252G>T
n.253-4260G>T
n.40-4260G>T
c.621G>T
c.4661G>T (p.Gly1554Val)
c.4034-4260G>T (n.4034-4260G>T)
c.3296G>T (p.Gly1099Val)
c.5210G>T (p.Gly1737Val)
c.3488-4260G>T (n.3488-4260G>T)
c.4937G>T (p.Gly1646Val)
c.4391G>T (p.Gly1464Val)
c.4580-4260G>T (n.4580-4260G>T)
c.4118G>T (p.Gly1373Val)
c.3761-4260G>T (n.3761-4260G>T)
c.3569G>T (p.Gly1190Val)
c.5483G>T (p.Gly1828Val)
c.5207G>T (p.Gly1736Val)
9g.115046601C=CA1874118935TNCc.318-4260G=
c.3215-4260G= (n.3215-4260G=)
c.3845G= (p.Gly1282=)
c.1877G= (p.Gly626=)
c.533G= (p.Gly178=)
c.3892G=
c.4934G= (p.Gly1645=)
c.4388G= (p.Gly1463=)
c.4307-4260G= (n.4307-4260G=)
n.252G=
n.253-4260G=
n.40-4260G=
c.621G=
c.4661G= (p.Gly1554=)
c.4034-4260G= (n.4034-4260G=)
c.3296G= (p.Gly1099=)
c.5210G= (p.Gly1737=)
c.3488-4260G= (n.3488-4260G=)
c.4937G= (p.Gly1646=)
c.4391G= (p.Gly1464=)
c.4580-4260G= (n.4580-4260G=)
c.4118G= (p.Gly1373=)
c.3761-4260G= (n.3761-4260G=)
c.3569G= (p.Gly1190=)
c.5483G= (p.Gly1828=)
c.5207G= (p.Gly1736=)
9g.115046601C>GCA374631221TNCc.318-4260G>C
c.3215-4260G>C (n.3215-4260G>C)
c.3845G>C (p.Gly1282Ala)
c.1877G>C (p.Gly626Ala)
c.533G>C (p.Gly178Ala)
c.3892G>C
c.4934G>C (p.Gly1645Ala)
c.4388G>C (p.Gly1463Ala)
c.4307-4260G>C (n.4307-4260G>C)
n.252G>C
n.253-4260G>C
n.40-4260G>C
c.621G>C
c.4661G>C (p.Gly1554Ala)
c.4034-4260G>C (n.4034-4260G>C)
c.3296G>C (p.Gly1099Ala)
c.5210G>C (p.Gly1737Ala)
c.3488-4260G>C (n.3488-4260G>C)
c.4937G>C (p.Gly1646Ala)
c.4391G>C (p.Gly1464Ala)
c.4580-4260G>C (n.4580-4260G>C)
c.4118G>C (p.Gly1373Ala)
c.3761-4260G>C (n.3761-4260G>C)
c.3569G>C (p.Gly1190Ala)
c.5483G>C (p.Gly1828Ala)
c.5207G>C (p.Gly1736Ala)
 dbSNP
9g.115046601C>TCA374631222TNCc.318-4260G>A
c.3215-4260G>A (n.3215-4260G>A)
c.3845G>A (p.Gly1282Glu)
c.1877G>A (p.Gly626Glu)
c.533G>A (p.Gly178Glu)
c.3892G>A
c.4934G>A (p.Gly1645Glu)
c.4388G>A (p.Gly1463Glu)
c.4307-4260G>A (n.4307-4260G>A)
n.252G>A
n.253-4260G>A
n.40-4260G>A
c.621G>A
c.4661G>A (p.Gly1554Glu)
c.4034-4260G>A (n.4034-4260G>A)
c.3296G>A (p.Gly1099Glu)
c.5210G>A (p.Gly1737Glu)
c.3488-4260G>A (n.3488-4260G>A)
c.4937G>A (p.Gly1646Glu)
c.4391G>A (p.Gly1464Glu)
c.4580-4260G>A (n.4580-4260G>A)
c.4118G>A (p.Gly1373Glu)
c.3761-4260G>A (n.3761-4260G>A)
c.3569G>A (p.Gly1190Glu)
c.5483G>A (p.Gly1828Glu)
c.5207G>A (p.Gly1736Glu)
9g.115046602C>ACA374631224TNCc.318-4261G>T
c.3215-4261G>T (n.3215-4261G>T)
c.3844G>T (p.Gly1282Trp)
c.1876G>T (p.Gly626Trp)
c.532G>T (p.Gly178Trp)
c.3891G>T
c.4933G>T (p.Gly1645Trp)
c.4387G>T (p.Gly1463Trp)
c.4307-4261G>T (n.4307-4261G>T)
n.251G>T
n.253-4261G>T
n.40-4261G>T
c.620G>T
c.4660G>T (p.Gly1554Trp)
c.4034-4261G>T (n.4034-4261G>T)
c.3295G>T (p.Gly1099Trp)
c.5209G>T (p.Gly1737Trp)
c.3488-4261G>T (n.3488-4261G>T)
c.4936G>T (p.Gly1646Trp)
c.4390G>T (p.Gly1464Trp)
c.4580-4261G>T (n.4580-4261G>T)
c.4117G>T (p.Gly1373Trp)
c.3761-4261G>T (n.3761-4261G>T)
c.3568G>T (p.Gly1190Trp)
c.5482G>T (p.Gly1828Trp)
c.5206G>T (p.Gly1736Trp)
 COSMIC
9g.115046602C=CA1874118936TNCc.318-4261G=
c.3215-4261G= (n.3215-4261G=)
c.3844G= (p.Gly1282=)
c.1876G= (p.Gly626=)
c.532G= (p.Gly178=)
c.3891G=
c.4933G= (p.Gly1645=)
c.4387G= (p.Gly1463=)
c.4307-4261G= (n.4307-4261G=)
n.251G=
n.253-4261G=
n.40-4261G=
c.620G=
c.4660G= (p.Gly1554=)
c.4034-4261G= (n.4034-4261G=)
c.3295G= (p.Gly1099=)
c.5209G= (p.Gly1737=)
c.3488-4261G= (n.3488-4261G=)
c.4936G= (p.Gly1646=)
c.4390G= (p.Gly1464=)
c.4580-4261G= (n.4580-4261G=)
c.4117G= (p.Gly1373=)
c.3761-4261G= (n.3761-4261G=)
c.3568G= (p.Gly1190=)
c.5482G= (p.Gly1828=)
c.5206G= (p.Gly1736=)
9g.115046602C>GCA374631225TNCc.318-4261G>C
c.3215-4261G>C (n.3215-4261G>C)
c.3844G>C (p.Gly1282Arg)
c.1876G>C (p.Gly626Arg)
c.532G>C (p.Gly178Arg)
c.3891G>C
c.4933G>C (p.Gly1645Arg)
c.4387G>C (p.Gly1463Arg)
c.4307-4261G>C (n.4307-4261G>C)
n.251G>C
n.253-4261G>C
n.40-4261G>C
c.620G>C
c.4660G>C (p.Gly1554Arg)
c.4034-4261G>C (n.4034-4261G>C)
c.3295G>C (p.Gly1099Arg)
c.5209G>C (p.Gly1737Arg)
c.3488-4261G>C (n.3488-4261G>C)
c.4936G>C (p.Gly1646Arg)
c.4390G>C (p.Gly1464Arg)
c.4580-4261G>C (n.4580-4261G>C)
c.4117G>C (p.Gly1373Arg)
c.3761-4261G>C (n.3761-4261G>C)
c.3568G>C (p.Gly1190Arg)
c.5482G>C (p.Gly1828Arg)
c.5206G>C (p.Gly1736Arg)
9g.115046602C>TCA374631226TNCc.318-4261G>A
c.3215-4261G>A (n.3215-4261G>A)
c.3844G>A (p.Gly1282Arg)
c.1876G>A (p.Gly626Arg)
c.532G>A (p.Gly178Arg)
c.3891G>A
c.4933G>A (p.Gly1645Arg)
c.4387G>A (p.Gly1463Arg)
c.4307-4261G>A (n.4307-4261G>A)
n.251G>A
n.253-4261G>A
n.40-4261G>A
c.620G>A
c.4660G>A (p.Gly1554Arg)
c.4034-4261G>A (n.4034-4261G>A)
c.3295G>A (p.Gly1099Arg)
c.5209G>A (p.Gly1737Arg)
c.3488-4261G>A (n.3488-4261G>A)
c.4936G>A (p.Gly1646Arg)
c.4390G>A (p.Gly1464Arg)
c.4580-4261G>A (n.4580-4261G>A)
c.4117G>A (p.Gly1373Arg)
c.3761-4261G>A (n.3761-4261G>A)
c.3568G>A (p.Gly1190Arg)
c.5482G>A (p.Gly1828Arg)
c.5206G>A (p.Gly1736Arg)
 dbSNP
9g.115046603T>ACA5207786TNCc.318-4262A>T
c.3215-4262A>T (n.3215-4262A>T)
c.3843A>T (p.Glu1281Asp)
c.1875A>T (p.Glu625Asp)
c.531A>T (p.Glu177Asp)
c.3890A>T
c.4932A>T (p.Glu1644Asp)
c.4386A>T (p.Glu1462Asp)
c.4307-4262A>T (n.4307-4262A>T)
n.250A>T
n.253-4262A>T
n.40-4262A>T
c.619A>T
c.4659A>T (p.Glu1553Asp)
c.4034-4262A>T (n.4034-4262A>T)
c.3294A>T (p.Glu1098Asp)
c.5208A>T (p.Glu1736Asp)
c.3488-4262A>T (n.3488-4262A>T)
c.4935A>T (p.Glu1645Asp)
c.4389A>T (p.Glu1463Asp)
c.4580-4262A>T (n.4580-4262A>T)
c.4116A>T (p.Glu1372Asp)
c.3761-4262A>T (n.3761-4262A>T)
c.3567A>T (p.Glu1189Asp)
c.5481A>T (p.Glu1827Asp)
c.5205A>T (p.Glu1735Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115046603T>CCA466912525TNCc.318-4262A>G
c.3215-4262A>G (n.3215-4262A>G)
c.3843A>G (p.Glu1281=)
c.1875A>G (p.Glu625=)
c.531A>G (p.Glu177=)
c.3890A>G
c.4932A>G (p.Glu1644=)
c.4386A>G (p.Glu1462=)
c.4307-4262A>G (n.4307-4262A>G)
n.250A>G
n.253-4262A>G
n.40-4262A>G
c.619A>G
c.4659A>G (p.Glu1553=)
c.4034-4262A>G (n.4034-4262A>G)
c.3294A>G (p.Glu1098=)
c.5208A>G (p.Glu1736=)
c.3488-4262A>G (n.3488-4262A>G)
c.4935A>G (p.Glu1645=)
c.4389A>G (p.Glu1463=)
c.4580-4262A>G (n.4580-4262A>G)
c.4116A>G (p.Glu1372=)
c.3761-4262A>G (n.3761-4262A>G)
c.3567A>G (p.Glu1189=)
c.5481A>G (p.Glu1827=)
c.5205A>G (p.Glu1735=)
9g.115046603T>GCA374631228TNCc.318-4262A>C
c.3215-4262A>C (n.3215-4262A>C)
c.3843A>C (p.Glu1281Asp)
c.1875A>C (p.Glu625Asp)
c.531A>C (p.Glu177Asp)
c.3890A>C
c.4932A>C (p.Glu1644Asp)
c.4386A>C (p.Glu1462Asp)
c.4307-4262A>C (n.4307-4262A>C)
n.250A>C
n.253-4262A>C
n.40-4262A>C
c.619A>C
c.4659A>C (p.Glu1553Asp)
c.4034-4262A>C (n.4034-4262A>C)
c.3294A>C (p.Glu1098Asp)
c.5208A>C (p.Glu1736Asp)
c.3488-4262A>C (n.3488-4262A>C)
c.4935A>C (p.Glu1645Asp)
c.4389A>C (p.Glu1463Asp)
c.4580-4262A>C (n.4580-4262A>C)
c.4116A>C (p.Glu1372Asp)
c.3761-4262A>C (n.3761-4262A>C)
c.3567A>C (p.Glu1189Asp)
c.5481A>C (p.Glu1827Asp)
c.5205A>C (p.Glu1735Asp)
9g.115046603T=CA1874118937TNCc.318-4262A=
c.3215-4262A= (n.3215-4262A=)
c.3843A= (p.Glu1281=)
c.1875A= (p.Glu625=)
c.531A= (p.Glu177=)
c.3890A=
c.4932A= (p.Glu1644=)
c.4386A= (p.Glu1462=)
c.4307-4262A= (n.4307-4262A=)
n.250A=
n.253-4262A=
n.40-4262A=
c.619A=
c.4659A= (p.Glu1553=)
c.4034-4262A= (n.4034-4262A=)
c.3294A= (p.Glu1098=)
c.5208A= (p.Glu1736=)
c.3488-4262A= (n.3488-4262A=)
c.4935A= (p.Glu1645=)
c.4389A= (p.Glu1463=)
c.4580-4262A= (n.4580-4262A=)
c.4116A= (p.Glu1372=)
c.3761-4262A= (n.3761-4262A=)
c.3567A= (p.Glu1189=)
c.5481A= (p.Glu1827=)
c.5205A= (p.Glu1735=)
9g.115046604T>ACA374631232TNCc.318-4263A>T
c.3215-4263A>T (n.3215-4263A>T)
c.3842A>T (p.Glu1281Val)
c.1874A>T (p.Glu625Val)
c.530A>T (p.Glu177Val)
c.3889A>T
c.4931A>T (p.Glu1644Val)
c.4385A>T (p.Glu1462Val)
c.4307-4263A>T (n.4307-4263A>T)
n.249A>T
n.253-4263A>T
n.40-4263A>T
c.618A>T
c.4658A>T (p.Glu1553Val)
c.4034-4263A>T (n.4034-4263A>T)
c.3293A>T (p.Glu1098Val)
c.5207A>T (p.Glu1736Val)
c.3488-4263A>T (n.3488-4263A>T)
c.4934A>T (p.Glu1645Val)
c.4388A>T (p.Glu1463Val)
c.4580-4263A>T (n.4580-4263A>T)
c.4115A>T (p.Glu1372Val)
c.3761-4263A>T (n.3761-4263A>T)
c.3566A>T (p.Glu1189Val)
c.5480A>T (p.Glu1827Val)
c.5204A>T (p.Glu1735Val)
9g.115046604T>CCA374631231TNCc.318-4263A>G
c.3215-4263A>G (n.3215-4263A>G)
c.3842A>G (p.Glu1281Gly)
c.1874A>G (p.Glu625Gly)
c.530A>G (p.Glu177Gly)
c.3889A>G
c.4931A>G (p.Glu1644Gly)
c.4385A>G (p.Glu1462Gly)
c.4307-4263A>G (n.4307-4263A>G)
n.249A>G
n.253-4263A>G
n.40-4263A>G
c.618A>G
c.4658A>G (p.Glu1553Gly)
c.4034-4263A>G (n.4034-4263A>G)
c.3293A>G (p.Glu1098Gly)
c.5207A>G (p.Glu1736Gly)
c.3488-4263A>G (n.3488-4263A>G)
c.4934A>G (p.Glu1645Gly)
c.4388A>G (p.Glu1463Gly)
c.4580-4263A>G (n.4580-4263A>G)
c.4115A>G (p.Glu1372Gly)
c.3761-4263A>G (n.3761-4263A>G)
c.3566A>G (p.Glu1189Gly)
c.5480A>G (p.Glu1827Gly)
c.5204A>G (p.Glu1735Gly)
9g.115046604T>GCA374631229TNCc.318-4263A>C
c.3215-4263A>C (n.3215-4263A>C)
c.3842A>C (p.Glu1281Ala)
c.1874A>C (p.Glu625Ala)
c.530A>C (p.Glu177Ala)
c.3889A>C
c.4931A>C (p.Glu1644Ala)
c.4385A>C (p.Glu1462Ala)
c.4307-4263A>C (n.4307-4263A>C)
n.249A>C
n.253-4263A>C
n.40-4263A>C
c.618A>C
c.4658A>C (p.Glu1553Ala)
c.4034-4263A>C (n.4034-4263A>C)
c.3293A>C (p.Glu1098Ala)
c.5207A>C (p.Glu1736Ala)
c.3488-4263A>C (n.3488-4263A>C)
c.4934A>C (p.Glu1645Ala)
c.4388A>C (p.Glu1463Ala)
c.4580-4263A>C (n.4580-4263A>C)
c.4115A>C (p.Glu1372Ala)
c.3761-4263A>C (n.3761-4263A>C)
c.3566A>C (p.Glu1189Ala)
c.5480A>C (p.Glu1827Ala)
c.5204A>C (p.Glu1735Ala)
9g.115046605C>ACA374631234TNCc.318-4264G>T
c.3215-4264G>T (n.3215-4264G>T)
c.3841G>T (p.Glu1281Ter)
c.1873G>T (p.Glu625Ter)
c.529G>T (p.Glu177Ter)
c.3888G>T
c.4930G>T (p.Glu1644Ter)
c.4384G>T (p.Glu1462Ter)
c.4307-4264G>T (n.4307-4264G>T)
n.248G>T
n.253-4264G>T
n.40-4264G>T
c.617G>T
c.4657G>T (p.Glu1553Ter)
c.4034-4264G>T (n.4034-4264G>T)
c.3292G>T (p.Glu1098Ter)
c.5206G>T (p.Glu1736Ter)
c.3488-4264G>T (n.3488-4264G>T)
c.4933G>T (p.Glu1645Ter)
c.4387G>T (p.Glu1463Ter)
c.4580-4264G>T (n.4580-4264G>T)
c.4114G>T (p.Glu1372Ter)
c.3761-4264G>T (n.3761-4264G>T)
c.3565G>T (p.Glu1189Ter)
c.5479G>T (p.Glu1827Ter)
c.5203G>T (p.Glu1735Ter)
9g.115046605C>GCA374631236TNCc.318-4264G>C
c.3215-4264G>C (n.3215-4264G>C)
c.3841G>C (p.Glu1281Gln)
c.1873G>C (p.Glu625Gln)
c.529G>C (p.Glu177Gln)
c.3888G>C
c.4930G>C (p.Glu1644Gln)
c.4384G>C (p.Glu1462Gln)
c.4307-4264G>C (n.4307-4264G>C)
n.248G>C
n.253-4264G>C
n.40-4264G>C
c.617G>C
c.4657G>C (p.Glu1553Gln)
c.4034-4264G>C (n.4034-4264G>C)
c.3292G>C (p.Glu1098Gln)
c.5206G>C (p.Glu1736Gln)
c.3488-4264G>C (n.3488-4264G>C)
c.4933G>C (p.Glu1645Gln)
c.4387G>C (p.Glu1463Gln)
c.4580-4264G>C (n.4580-4264G>C)
c.4114G>C (p.Glu1372Gln)
c.3761-4264G>C (n.3761-4264G>C)
c.3565G>C (p.Glu1189Gln)
c.5479G>C (p.Glu1827Gln)
c.5203G>C (p.Glu1735Gln)
9g.115046605C>TCA374631238TNCc.318-4264G>A
c.3215-4264G>A (n.3215-4264G>A)
c.3841G>A (p.Glu1281Lys)
c.1873G>A (p.Glu625Lys)
c.529G>A (p.Glu177Lys)
c.3888G>A
c.4930G>A (p.Glu1644Lys)
c.4384G>A (p.Glu1462Lys)
c.4307-4264G>A (n.4307-4264G>A)
n.248G>A
n.253-4264G>A
n.40-4264G>A
c.617G>A
c.4657G>A (p.Glu1553Lys)
c.4034-4264G>A (n.4034-4264G>A)
c.3292G>A (p.Glu1098Lys)
c.5206G>A (p.Glu1736Lys)
c.3488-4264G>A (n.3488-4264G>A)
c.4933G>A (p.Glu1645Lys)
c.4387G>A (p.Glu1463Lys)
c.4580-4264G>A (n.4580-4264G>A)
c.4114G>A (p.Glu1372Lys)
c.3761-4264G>A (n.3761-4264G>A)
c.3565G>A (p.Glu1189Lys)
c.5479G>A (p.Glu1827Lys)
c.5203G>A (p.Glu1735Lys)
9g.115046606A>CCA374631240TNCc.318-4265T>G
c.3215-4265T>G (n.3215-4265T>G)
c.3840T>G (p.Asp1280Glu)
c.1872T>G (p.Asp624Glu)
c.528T>G (p.Asp176Glu)
c.3887T>G
c.4929T>G (p.Asp1643Glu)
c.4383T>G (p.Asp1461Glu)
c.4307-4265T>G (n.4307-4265T>G)
n.247T>G
n.253-4265T>G
n.40-4265T>G
c.616T>G
c.4656T>G (p.Asp1552Glu)
c.4034-4265T>G (n.4034-4265T>G)
c.3291T>G (p.Asp1097Glu)
c.5205T>G (p.Asp1735Glu)
c.3488-4265T>G (n.3488-4265T>G)
c.4932T>G (p.Asp1644Glu)
c.4386T>G (p.Asp1462Glu)
c.4580-4265T>G (n.4580-4265T>G)
c.4113T>G (p.Asp1371Glu)
c.3761-4265T>G (n.3761-4265T>G)
c.3564T>G (p.Asp1188Glu)
c.5478T>G (p.Asp1826Glu)
c.5202T>G (p.Asp1734Glu)
 gnomAD v4
9g.115046606A>GCA466912529TNCc.318-4265T>C
c.3215-4265T>C (n.3215-4265T>C)
c.3840T>C (p.Asp1280=)
c.1872T>C (p.Asp624=)
c.528T>C (p.Asp176=)
c.3887T>C
c.4929T>C (p.Asp1643=)
c.4383T>C (p.Asp1461=)
c.4307-4265T>C (n.4307-4265T>C)
n.247T>C
n.253-4265T>C
n.40-4265T>C
c.616T>C
c.4656T>C (p.Asp1552=)
c.4034-4265T>C (n.4034-4265T>C)
c.3291T>C (p.Asp1097=)
c.5205T>C (p.Asp1735=)
c.3488-4265T>C (n.3488-4265T>C)
c.4932T>C (p.Asp1644=)
c.4386T>C (p.Asp1462=)
c.4580-4265T>C (n.4580-4265T>C)
c.4113T>C (p.Asp1371=)
c.3761-4265T>C (n.3761-4265T>C)
c.3564T>C (p.Asp1188=)
c.5478T>C (p.Asp1826=)
c.5202T>C (p.Asp1734=)
 gnomAD v4
9g.115046606A>TCA374631241TNCc.318-4265T>A
c.3215-4265T>A (n.3215-4265T>A)
c.3840T>A (p.Asp1280Glu)
c.1872T>A (p.Asp624Glu)
c.528T>A (p.Asp176Glu)
c.3887T>A
c.4929T>A (p.Asp1643Glu)
c.4383T>A (p.Asp1461Glu)
c.4307-4265T>A (n.4307-4265T>A)
n.247T>A
n.253-4265T>A
n.40-4265T>A
c.616T>A
c.4656T>A (p.Asp1552Glu)
c.4034-4265T>A (n.4034-4265T>A)
c.3291T>A (p.Asp1097Glu)
c.5205T>A (p.Asp1735Glu)
c.3488-4265T>A (n.3488-4265T>A)
c.4932T>A (p.Asp1644Glu)
c.4386T>A (p.Asp1462Glu)
c.4580-4265T>A (n.4580-4265T>A)
c.4113T>A (p.Asp1371Glu)
c.3761-4265T>A (n.3761-4265T>A)
c.3564T>A (p.Asp1188Glu)
c.5478T>A (p.Asp1826Glu)
c.5202T>A (p.Asp1734Glu)
9g.115046607T>ACA374631243TNCc.318-4266A>T
c.3215-4266A>T (n.3215-4266A>T)
c.3839A>T (p.Asp1280Val)
c.1871A>T (p.Asp624Val)
c.527A>T (p.Asp176Val)
c.3886A>T
c.4928A>T (p.Asp1643Val)
c.4382A>T (p.Asp1461Val)
c.4307-4266A>T (n.4307-4266A>T)
n.246A>T
n.253-4266A>T
n.40-4266A>T
c.615A>T
c.4655A>T (p.Asp1552Val)
c.4034-4266A>T (n.4034-4266A>T)
c.3290A>T (p.Asp1097Val)
c.5204A>T (p.Asp1735Val)
c.3488-4266A>T (n.3488-4266A>T)
c.4931A>T (p.Asp1644Val)
c.4385A>T (p.Asp1462Val)
c.4580-4266A>T (n.4580-4266A>T)
c.4112A>T (p.Asp1371Val)
c.3761-4266A>T (n.3761-4266A>T)
c.3563A>T (p.Asp1188Val)
c.5477A>T (p.Asp1826Val)
c.5201A>T (p.Asp1734Val)
9g.115046607T>CCA374631244TNCc.318-4266A>G
c.3215-4266A>G (n.3215-4266A>G)
c.3839A>G (p.Asp1280Gly)
c.1871A>G (p.Asp624Gly)
c.527A>G (p.Asp176Gly)
c.3886A>G
c.4928A>G (p.Asp1643Gly)
c.4382A>G (p.Asp1461Gly)
c.4307-4266A>G (n.4307-4266A>G)
n.246A>G
n.253-4266A>G
n.40-4266A>G
c.615A>G
c.4655A>G (p.Asp1552Gly)
c.4034-4266A>G (n.4034-4266A>G)
c.3290A>G (p.Asp1097Gly)
c.5204A>G (p.Asp1735Gly)
c.3488-4266A>G (n.3488-4266A>G)
c.4931A>G (p.Asp1644Gly)
c.4385A>G (p.Asp1462Gly)
c.4580-4266A>G (n.4580-4266A>G)
c.4112A>G (p.Asp1371Gly)
c.3761-4266A>G (n.3761-4266A>G)
c.3563A>G (p.Asp1188Gly)
c.5477A>G (p.Asp1826Gly)
c.5201A>G (p.Asp1734Gly)
9g.115046607T>GCA374631245TNCc.318-4266A>C
c.3215-4266A>C (n.3215-4266A>C)
c.3839A>C (p.Asp1280Ala)
c.1871A>C (p.Asp624Ala)
c.527A>C (p.Asp176Ala)
c.3886A>C
c.4928A>C (p.Asp1643Ala)
c.4382A>C (p.Asp1461Ala)
c.4307-4266A>C (n.4307-4266A>C)
n.246A>C
n.253-4266A>C
n.40-4266A>C
c.615A>C
c.4655A>C (p.Asp1552Ala)
c.4034-4266A>C (n.4034-4266A>C)
c.3290A>C (p.Asp1097Ala)
c.5204A>C (p.Asp1735Ala)
c.3488-4266A>C (n.3488-4266A>C)
c.4931A>C (p.Asp1644Ala)
c.4385A>C (p.Asp1462Ala)
c.4580-4266A>C (n.4580-4266A>C)
c.4112A>C (p.Asp1371Ala)
c.3761-4266A>C (n.3761-4266A>C)
c.3563A>C (p.Asp1188Ala)
c.5477A>C (p.Asp1826Ala)
c.5201A>C (p.Asp1734Ala)
 dbSNP gnomAD v2 gnomAD v4
9g.115046607T=CA1874118938TNCc.318-4266A=
c.3215-4266A= (n.3215-4266A=)
c.3839A= (p.Asp1280=)
c.1871A= (p.Asp624=)
c.527A= (p.Asp176=)
c.3886A=
c.4928A= (p.Asp1643=)
c.4382A= (p.Asp1461=)
c.4307-4266A= (n.4307-4266A=)
n.246A=
n.253-4266A=
n.40-4266A=
c.615A=
c.4655A= (p.Asp1552=)
c.4034-4266A= (n.4034-4266A=)
c.3290A= (p.Asp1097=)
c.5204A= (p.Asp1735=)
c.3488-4266A= (n.3488-4266A=)
c.4931A= (p.Asp1644=)
c.4385A= (p.Asp1462=)
c.4580-4266A= (n.4580-4266A=)
c.4112A= (p.Asp1371=)
c.3761-4266A= (n.3761-4266A=)
c.3563A= (p.Asp1188=)
c.5477A= (p.Asp1826=)
c.5201A= (p.Asp1734=)
9g.115046608C>ACA374631246TNCc.318-4267G>T
c.3215-4267G>T (n.3215-4267G>T)
c.3838G>T (p.Asp1280Tyr)
c.1870G>T (p.Asp624Tyr)
c.526G>T (p.Asp176Tyr)
c.3885G>T
c.4927G>T (p.Asp1643Tyr)
c.4381G>T (p.Asp1461Tyr)
c.4307-4267G>T (n.4307-4267G>T)
n.245G>T
n.253-4267G>T
n.40-4267G>T
c.614G>T
c.4654G>T (p.Asp1552Tyr)
c.4034-4267G>T (n.4034-4267G>T)
c.3289G>T (p.Asp1097Tyr)
c.5203G>T (p.Asp1735Tyr)
c.3488-4267G>T (n.3488-4267G>T)
c.4930G>T (p.Asp1644Tyr)
c.4384G>T (p.Asp1462Tyr)
c.4580-4267G>T (n.4580-4267G>T)
c.4111G>T (p.Asp1371Tyr)
c.3761-4267G>T (n.3761-4267G>T)
c.3562G>T (p.Asp1188Tyr)
c.5476G>T (p.Asp1826Tyr)
c.5200G>T (p.Asp1734Tyr)
9g.115046608C=CA1874118939TNCc.318-4267G=
c.3215-4267G= (n.3215-4267G=)
c.3838G= (p.Asp1280=)
c.1870G= (p.Asp624=)
c.526G= (p.Asp176=)
c.3885G=
c.4927G= (p.Asp1643=)
c.4381G= (p.Asp1461=)
c.4307-4267G= (n.4307-4267G=)
n.245G=
n.253-4267G=
n.40-4267G=
c.614G=
c.4654G= (p.Asp1552=)
c.4034-4267G= (n.4034-4267G=)
c.3289G= (p.Asp1097=)
c.5203G= (p.Asp1735=)
c.3488-4267G= (n.3488-4267G=)
c.4930G= (p.Asp1644=)
c.4384G= (p.Asp1462=)
c.4580-4267G= (n.4580-4267G=)
c.4111G= (p.Asp1371=)
c.3761-4267G= (n.3761-4267G=)
c.3562G= (p.Asp1188=)
c.5476G= (p.Asp1826=)
c.5200G= (p.Asp1734=)
9g.115046608C>GCA374631248TNCc.318-4267G>C
c.3215-4267G>C (n.3215-4267G>C)
c.3838G>C (p.Asp1280His)
c.1870G>C (p.Asp624His)
c.526G>C (p.Asp176His)
c.3885G>C
c.4927G>C (p.Asp1643His)
c.4381G>C (p.Asp1461His)
c.4307-4267G>C (n.4307-4267G>C)
n.245G>C
n.253-4267G>C
n.40-4267G>C
c.614G>C
c.4654G>C (p.Asp1552His)
c.4034-4267G>C (n.4034-4267G>C)
c.3289G>C (p.Asp1097His)
c.5203G>C (p.Asp1735His)
c.3488-4267G>C (n.3488-4267G>C)
c.4930G>C (p.Asp1644His)
c.4384G>C (p.Asp1462His)
c.4580-4267G>C (n.4580-4267G>C)
c.4111G>C (p.Asp1371His)
c.3761-4267G>C (n.3761-4267G>C)
c.3562G>C (p.Asp1188His)
c.5476G>C (p.Asp1826His)
c.5200G>C (p.Asp1734His)
9g.115046608C>TCA5207787TNCc.318-4267G>A
c.3215-4267G>A (n.3215-4267G>A)
c.3838G>A (p.Asp1280Asn)
c.1870G>A (p.Asp624Asn)
c.526G>A (p.Asp176Asn)
c.3885G>A
c.4927G>A (p.Asp1643Asn)
c.4381G>A (p.Asp1461Asn)
c.4307-4267G>A (n.4307-4267G>A)
n.245G>A
n.253-4267G>A
n.40-4267G>A
c.614G>A
c.4654G>A (p.Asp1552Asn)
c.4034-4267G>A (n.4034-4267G>A)
c.3289G>A (p.Asp1097Asn)
c.5203G>A (p.Asp1735Asn)
c.3488-4267G>A (n.3488-4267G>A)
c.4930G>A (p.Asp1644Asn)
c.4384G>A (p.Asp1462Asn)
c.4580-4267G>A (n.4580-4267G>A)
c.4111G>A (p.Asp1371Asn)
c.3761-4267G>A (n.3761-4267G>A)
c.3562G>A (p.Asp1188Asn)
c.5476G>A (p.Asp1826Asn)
c.5200G>A (p.Asp1734Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
9g.115046609A>CCA466912531TNCc.318-4268T>G
c.3215-4268T>G (n.3215-4268T>G)
c.3837T>G (p.Ala1279=)
c.1869T>G (p.Ala623=)
c.525T>G (p.Ala175=)
c.3884T>G
c.4926T>G (p.Ala1642=)
c.4380T>G (p.Ala1460=)
c.4307-4268T>G (n.4307-4268T>G)
n.244T>G
n.253-4268T>G
n.40-4268T>G
c.613T>G
c.4653T>G (p.Ala1551=)
c.4034-4268T>G (n.4034-4268T>G)
c.3288T>G (p.Ala1096=)
c.5202T>G (p.Ala1734=)
c.3488-4268T>G (n.3488-4268T>G)
c.4929T>G (p.Ala1643=)
c.4383T>G (p.Ala1461=)
c.4580-4268T>G (n.4580-4268T>G)
c.4110T>G (p.Ala1370=)
c.3761-4268T>G (n.3761-4268T>G)
c.3561T>G (p.Ala1187=)
c.5475T>G (p.Ala1825=)
c.5199T>G (p.Ala1733=)
9g.115046609A>GCA466912532TNCc.318-4268T>C
c.3215-4268T>C (n.3215-4268T>C)
c.3837T>C (p.Ala1279=)
c.1869T>C (p.Ala623=)
c.525T>C (p.Ala175=)
c.3884T>C
c.4926T>C (p.Ala1642=)
c.4380T>C (p.Ala1460=)
c.4307-4268T>C (n.4307-4268T>C)
n.244T>C
n.253-4268T>C
n.40-4268T>C
c.613T>C
c.4653T>C (p.Ala1551=)
c.4034-4268T>C (n.4034-4268T>C)
c.3288T>C (p.Ala1096=)
c.5202T>C (p.Ala1734=)
c.3488-4268T>C (n.3488-4268T>C)
c.4929T>C (p.Ala1643=)
c.4383T>C (p.Ala1461=)
c.4580-4268T>C (n.4580-4268T>C)
c.4110T>C (p.Ala1370=)
c.3761-4268T>C (n.3761-4268T>C)
c.3561T>C (p.Ala1187=)
c.5475T>C (p.Ala1825=)
c.5199T>C (p.Ala1733=)
9g.115046609A>TCA466912533TNCc.318-4268T>A
c.3215-4268T>A (n.3215-4268T>A)
c.3837T>A (p.Ala1279=)
c.1869T>A (p.Ala623=)
c.525T>A (p.Ala175=)
c.3884T>A
c.4926T>A (p.Ala1642=)
c.4380T>A (p.Ala1460=)
c.4307-4268T>A (n.4307-4268T>A)
n.244T>A
n.253-4268T>A
n.40-4268T>A
c.613T>A
c.4653T>A (p.Ala1551=)
c.4034-4268T>A (n.4034-4268T>A)
c.3288T>A (p.Ala1096=)
c.5202T>A (p.Ala1734=)
c.3488-4268T>A (n.3488-4268T>A)
c.4929T>A (p.Ala1643=)
c.4383T>A (p.Ala1461=)
c.4580-4268T>A (n.4580-4268T>A)
c.4110T>A (p.Ala1370=)
c.3761-4268T>A (n.3761-4268T>A)
c.3561T>A (p.Ala1187=)
c.5475T>A (p.Ala1825=)
c.5199T>A (p.Ala1733=)
9g.115046610G>ACA374631254TNCc.318-4269C>T
c.3215-4269C>T (n.3215-4269C>T)
c.3836C>T (p.Ala1279Val)
c.1868C>T (p.Ala623Val)
c.524C>T (p.Ala175Val)
c.3883C>T
c.4925C>T (p.Ala1642Val)
c.4379C>T (p.Ala1460Val)
c.4307-4269C>T (n.4307-4269C>T)
n.243C>T
n.253-4269C>T
n.40-4269C>T
c.612C>T
c.4652C>T (p.Ala1551Val)
c.4034-4269C>T (n.4034-4269C>T)
c.3287C>T (p.Ala1096Val)
c.5201C>T (p.Ala1734Val)
c.3488-4269C>T (n.3488-4269C>T)
c.4928C>T (p.Ala1643Val)
c.4382C>T (p.Ala1461Val)
c.4580-4269C>T (n.4580-4269C>T)
c.4109C>T (p.Ala1370Val)
c.3761-4269C>T (n.3761-4269C>T)
c.3560C>T (p.Ala1187Val)
c.5474C>T (p.Ala1825Val)
c.5198C>T (p.Ala1733Val)
9g.115046610G>CCA374631252TNCc.318-4269C>G
c.3215-4269C>G (n.3215-4269C>G)
c.3836C>G (p.Ala1279Gly)
c.1868C>G (p.Ala623Gly)
c.524C>G (p.Ala175Gly)
c.3883C>G
c.4925C>G (p.Ala1642Gly)
c.4379C>G (p.Ala1460Gly)
c.4307-4269C>G (n.4307-4269C>G)
n.243C>G
n.253-4269C>G
n.40-4269C>G
c.612C>G
c.4652C>G (p.Ala1551Gly)
c.4034-4269C>G (n.4034-4269C>G)
c.3287C>G (p.Ala1096Gly)
c.5201C>G (p.Ala1734Gly)
c.3488-4269C>G (n.3488-4269C>G)
c.4928C>G (p.Ala1643Gly)
c.4382C>G (p.Ala1461Gly)
c.4580-4269C>G (n.4580-4269C>G)
c.4109C>G (p.Ala1370Gly)
c.3761-4269C>G (n.3761-4269C>G)
c.3560C>G (p.Ala1187Gly)
c.5474C>G (p.Ala1825Gly)
c.5198C>G (p.Ala1733Gly)
9g.115046610G>TCA374631250TNCc.318-4269C>A
c.3215-4269C>A (n.3215-4269C>A)
c.3836C>A (p.Ala1279Asp)
c.1868C>A (p.Ala623Asp)
c.524C>A (p.Ala175Asp)
c.3883C>A
c.4925C>A (p.Ala1642Asp)
c.4379C>A (p.Ala1460Asp)
c.4307-4269C>A (n.4307-4269C>A)
n.243C>A
n.253-4269C>A
n.40-4269C>A
c.612C>A
c.4652C>A (p.Ala1551Asp)
c.4034-4269C>A (n.4034-4269C>A)
c.3287C>A (p.Ala1096Asp)
c.5201C>A (p.Ala1734Asp)
c.3488-4269C>A (n.3488-4269C>A)
c.4928C>A (p.Ala1643Asp)
c.4382C>A (p.Ala1461Asp)
c.4580-4269C>A (n.4580-4269C>A)
c.4109C>A (p.Ala1370Asp)
c.3761-4269C>A (n.3761-4269C>A)
c.3560C>A (p.Ala1187Asp)
c.5474C>A (p.Ala1825Asp)
c.5198C>A (p.Ala1733Asp)
9g.115046611C>ACA374631256TNCc.318-4270G>T
c.3215-4270G>T (n.3215-4270G>T)
c.3835G>T (p.Ala1279Ser)
c.1867G>T (p.Ala623Ser)
c.523G>T (p.Ala175Ser)
c.3882G>T
c.4924G>T (p.Ala1642Ser)
c.4378G>T (p.Ala1460Ser)
c.4307-4270G>T (n.4307-4270G>T)
n.242G>T
n.253-4270G>T
n.40-4270G>T
c.611G>T
c.4651G>T (p.Ala1551Ser)
c.4034-4270G>T (n.4034-4270G>T)
c.3286G>T (p.Ala1096Ser)
c.5200G>T (p.Ala1734Ser)
c.3488-4270G>T (n.3488-4270G>T)
c.4927G>T (p.Ala1643Ser)
c.4381G>T (p.Ala1461Ser)
c.4580-4270G>T (n.4580-4270G>T)
c.4108G>T (p.Ala1370Ser)
c.3761-4270G>T (n.3761-4270G>T)
c.3559G>T (p.Ala1187Ser)
c.5473G>T (p.Ala1825Ser)
c.5197G>T (p.Ala1733Ser)
9g.115046611C>GCA374631257TNCc.318-4270G>C
c.3215-4270G>C (n.3215-4270G>C)
c.3835G>C (p.Ala1279Pro)
c.1867G>C (p.Ala623Pro)
c.523G>C (p.Ala175Pro)
c.3882G>C
c.4924G>C (p.Ala1642Pro)
c.4378G>C (p.Ala1460Pro)
c.4307-4270G>C (n.4307-4270G>C)
n.242G>C
n.253-4270G>C
n.40-4270G>C
c.611G>C
c.4651G>C (p.Ala1551Pro)
c.4034-4270G>C (n.4034-4270G>C)
c.3286G>C (p.Ala1096Pro)
c.5200G>C (p.Ala1734Pro)
c.3488-4270G>C (n.3488-4270G>C)
c.4927G>C (p.Ala1643Pro)
c.4381G>C (p.Ala1461Pro)
c.4580-4270G>C (n.4580-4270G>C)
c.4108G>C (p.Ala1370Pro)
c.3761-4270G>C (n.3761-4270G>C)
c.3559G>C (p.Ala1187Pro)
c.5473G>C (p.Ala1825Pro)
c.5197G>C (p.Ala1733Pro)
9g.115046611C>TCA374631258TNCc.318-4270G>A
c.3215-4270G>A (n.3215-4270G>A)
c.3835G>A (p.Ala1279Thr)
c.1867G>A (p.Ala623Thr)
c.523G>A (p.Ala175Thr)
c.3882G>A
c.4924G>A (p.Ala1642Thr)
c.4378G>A (p.Ala1460Thr)
c.4307-4270G>A (n.4307-4270G>A)
n.242G>A
n.253-4270G>A
n.40-4270G>A
c.611G>A
c.4651G>A (p.Ala1551Thr)
c.4034-4270G>A (n.4034-4270G>A)
c.3286G>A (p.Ala1096Thr)
c.5200G>A (p.Ala1734Thr)
c.3488-4270G>A (n.3488-4270G>A)
c.4927G>A (p.Ala1643Thr)
c.4381G>A (p.Ala1461Thr)
c.4580-4270G>A (n.4580-4270G>A)
c.4108G>A (p.Ala1370Thr)
c.3761-4270G>A (n.3761-4270G>A)
c.3559G>A (p.Ala1187Thr)
c.5473G>A (p.Ala1825Thr)
c.5197G>A (p.Ala1733Thr)
9g.115046612T>ACA466912537TNCc.318-4271A>T
c.3215-4271A>T (n.3215-4271A>T)
c.3834A>T (p.Thr1278=)
c.1866A>T (p.Thr622=)
c.522A>T (p.Thr174=)
c.3881A>T
c.4923A>T (p.Thr1641=)
c.4377A>T (p.Thr1459=)
c.4307-4271A>T (n.4307-4271A>T)
n.241A>T
n.253-4271A>T
n.40-4271A>T
c.610A>T
c.4650A>T (p.Thr1550=)
c.4034-4271A>T (n.4034-4271A>T)
c.3285A>T (p.Thr1095=)
c.5199A>T (p.Thr1733=)
c.3488-4271A>T (n.3488-4271A>T)
c.4926A>T (p.Thr1642=)
c.4380A>T (p.Thr1460=)
c.4580-4271A>T (n.4580-4271A>T)
c.4107A>T (p.Thr1369=)
c.3761-4271A>T (n.3761-4271A>T)
c.3558A>T (p.Thr1186=)
c.5472A>T (p.Thr1824=)
c.5196A>T (p.Thr1732=)
9g.115046612T>CCA466912538TNCc.318-4271A>G
c.3215-4271A>G (n.3215-4271A>G)
c.3834A>G (p.Thr1278=)
c.1866A>G (p.Thr622=)
c.522A>G (p.Thr174=)
c.3881A>G
c.4923A>G (p.Thr1641=)
c.4377A>G (p.Thr1459=)
c.4307-4271A>G (n.4307-4271A>G)
n.241A>G
n.253-4271A>G
n.40-4271A>G
c.610A>G
c.4650A>G (p.Thr1550=)
c.4034-4271A>G (n.4034-4271A>G)
c.3285A>G (p.Thr1095=)
c.5199A>G (p.Thr1733=)
c.3488-4271A>G (n.3488-4271A>G)
c.4926A>G (p.Thr1642=)
c.4380A>G (p.Thr1460=)
c.4580-4271A>G (n.4580-4271A>G)
c.4107A>G (p.Thr1369=)
c.3761-4271A>G (n.3761-4271A>G)
c.3558A>G (p.Thr1186=)
c.5472A>G (p.Thr1824=)
c.5196A>G (p.Thr1732=)
9g.115046612T>GCA466912539TNCc.318-4271A>C
c.3215-4271A>C (n.3215-4271A>C)
c.3834A>C (p.Thr1278=)
c.1866A>C (p.Thr622=)
c.522A>C (p.Thr174=)
c.3881A>C
c.4923A>C (p.Thr1641=)
c.4377A>C (p.Thr1459=)
c.4307-4271A>C (n.4307-4271A>C)
n.241A>C
n.253-4271A>C
n.40-4271A>C
c.610A>C
c.4650A>C (p.Thr1550=)
c.4034-4271A>C (n.4034-4271A>C)
c.3285A>C (p.Thr1095=)
c.5199A>C (p.Thr1733=)
c.3488-4271A>C (n.3488-4271A>C)
c.4926A>C (p.Thr1642=)
c.4380A>C (p.Thr1460=)
c.4580-4271A>C (n.4580-4271A>C)
c.4107A>C (p.Thr1369=)
c.3761-4271A>C (n.3761-4271A>C)
c.3558A>C (p.Thr1186=)
c.5472A>C (p.Thr1824=)
c.5196A>C (p.Thr1732=)
9g.115046613G>ACA374631259TNCc.318-4272C>T
c.3215-4272C>T (n.3215-4272C>T)
c.3833C>T (p.Thr1278Ile)
c.1865C>T (p.Thr622Ile)
c.521C>T (p.Thr174Ile)
c.3880C>T
c.4922C>T (p.Thr1641Ile)
c.4376C>T (p.Thr1459Ile)
c.4307-4272C>T (n.4307-4272C>T)
n.240C>T
n.253-4272C>T
n.40-4272C>T
c.609C>T
c.4649C>T (p.Thr1550Ile)
c.4034-4272C>T (n.4034-4272C>T)
c.3284C>T (p.Thr1095Ile)
c.5198C>T (p.Thr1733Ile)
c.3488-4272C>T (n.3488-4272C>T)
c.4925C>T (p.Thr1642Ile)
c.4379C>T (p.Thr1460Ile)
c.4580-4272C>T (n.4580-4272C>T)
c.4106C>T (p.Thr1369Ile)
c.3761-4272C>T (n.3761-4272C>T)
c.3557C>T (p.Thr1186Ile)
c.5471C>T (p.Thr1824Ile)
c.5195C>T (p.Thr1732Ile)
 gnomAD v4
9g.115046613G>CCA374631261TNCc.318-4272C>G
c.3215-4272C>G (n.3215-4272C>G)
c.3833C>G (p.Thr1278Arg)
c.1865C>G (p.Thr622Arg)
c.521C>G (p.Thr174Arg)
c.3880C>G
c.4922C>G (p.Thr1641Arg)
c.4376C>G (p.Thr1459Arg)
c.4307-4272C>G (n.4307-4272C>G)
n.240C>G
n.253-4272C>G
n.40-4272C>G
c.609C>G
c.4649C>G (p.Thr1550Arg)
c.4034-4272C>G (n.4034-4272C>G)
c.3284C>G (p.Thr1095Arg)
c.5198C>G (p.Thr1733Arg)
c.3488-4272C>G (n.3488-4272C>G)
c.4925C>G (p.Thr1642Arg)
c.4379C>G (p.Thr1460Arg)
c.4580-4272C>G (n.4580-4272C>G)
c.4106C>G (p.Thr1369Arg)
c.3761-4272C>G (n.3761-4272C>G)
c.3557C>G (p.Thr1186Arg)
c.5471C>G (p.Thr1824Arg)
c.5195C>G (p.Thr1732Arg)
9g.115046613G>TCA374631263TNCc.318-4272C>A
c.3215-4272C>A (n.3215-4272C>A)
c.3833C>A (p.Thr1278Lys)
c.1865C>A (p.Thr622Lys)
c.521C>A (p.Thr174Lys)
c.3880C>A
c.4922C>A (p.Thr1641Lys)
c.4376C>A (p.Thr1459Lys)
c.4307-4272C>A (n.4307-4272C>A)
n.240C>A
n.253-4272C>A
n.40-4272C>A
c.609C>A
c.4649C>A (p.Thr1550Lys)
c.4034-4272C>A (n.4034-4272C>A)
c.3284C>A (p.Thr1095Lys)
c.5198C>A (p.Thr1733Lys)
c.3488-4272C>A (n.3488-4272C>A)
c.4925C>A (p.Thr1642Lys)
c.4379C>A (p.Thr1460Lys)
c.4580-4272C>A (n.4580-4272C>A)
c.4106C>A (p.Thr1369Lys)
c.3761-4272C>A (n.3761-4272C>A)
c.3557C>A (p.Thr1186Lys)
c.5471C>A (p.Thr1824Lys)
c.5195C>A (p.Thr1732Lys)
 COSMIC
9g.115046614T>ACA374631264TNCc.318-4273A>T
c.3215-4273A>T (n.3215-4273A>T)
c.3832A>T (p.Thr1278Ser)
c.1864A>T (p.Thr622Ser)
c.520A>T (p.Thr174Ser)
c.3879A>T
c.4921A>T (p.Thr1641Ser)
c.4375A>T (p.Thr1459Ser)
c.4307-4273A>T (n.4307-4273A>T)
n.239A>T
n.253-4273A>T
n.40-4273A>T
c.608A>T
c.4648A>T (p.Thr1550Ser)
c.4034-4273A>T (n.4034-4273A>T)
c.3283A>T (p.Thr1095Ser)
c.5197A>T (p.Thr1733Ser)
c.3488-4273A>T (n.3488-4273A>T)
c.4924A>T (p.Thr1642Ser)
c.4378A>T (p.Thr1460Ser)
c.4580-4273A>T (n.4580-4273A>T)
c.4105A>T (p.Thr1369Ser)
c.3761-4273A>T (n.3761-4273A>T)
c.3556A>T (p.Thr1186Ser)
c.5470A>T (p.Thr1824Ser)
c.5194A>T (p.Thr1732Ser)
9g.115046614T>CCA374631265TNCc.318-4273A>G
c.3215-4273A>G (n.3215-4273A>G)
c.3832A>G (p.Thr1278Ala)
c.1864A>G (p.Thr622Ala)
c.520A>G (p.Thr174Ala)
c.3879A>G
c.4921A>G (p.Thr1641Ala)
c.4375A>G (p.Thr1459Ala)
c.4307-4273A>G (n.4307-4273A>G)
n.239A>G
n.253-4273A>G
n.40-4273A>G
c.608A>G
c.4648A>G (p.Thr1550Ala)
c.4034-4273A>G (n.4034-4273A>G)
c.3283A>G (p.Thr1095Ala)
c.5197A>G (p.Thr1733Ala)
c.3488-4273A>G (n.3488-4273A>G)
c.4924A>G (p.Thr1642Ala)
c.4378A>G (p.Thr1460Ala)
c.4580-4273A>G (n.4580-4273A>G)
c.4105A>G (p.Thr1369Ala)
c.3761-4273A>G (n.3761-4273A>G)
c.3556A>G (p.Thr1186Ala)
c.5470A>G (p.Thr1824Ala)
c.5194A>G (p.Thr1732Ala)
 gnomAD v3 gnomAD v4
9g.115046614T>GCA374631267TNCc.318-4273A>C
c.3215-4273A>C (n.3215-4273A>C)
c.3832A>C (p.Thr1278Pro)
c.1864A>C (p.Thr622Pro)
c.520A>C (p.Thr174Pro)
c.3879A>C
c.4921A>C (p.Thr1641Pro)
c.4375A>C (p.Thr1459Pro)
c.4307-4273A>C (n.4307-4273A>C)
n.239A>C
n.253-4273A>C
n.40-4273A>C
c.608A>C
c.4648A>C (p.Thr1550Pro)
c.4034-4273A>C (n.4034-4273A>C)
c.3283A>C (p.Thr1095Pro)
c.5197A>C (p.Thr1733Pro)
c.3488-4273A>C (n.3488-4273A>C)
c.4924A>C (p.Thr1642Pro)
c.4378A>C (p.Thr1460Pro)
c.4580-4273A>C (n.4580-4273A>C)
c.4105A>C (p.Thr1369Pro)
c.3761-4273A>C (n.3761-4273A>C)
c.3556A>C (p.Thr1186Pro)
c.5470A>C (p.Thr1824Pro)
c.5194A>C (p.Thr1732Pro)
 gnomAD v4
9g.115046615C>ACA374631269TNCc.318-4274G>T
c.3215-4274G>T (n.3215-4274G>T)
c.3831G>T (p.Trp1277Cys)
c.1863G>T (p.Trp621Cys)
c.519G>T (p.Trp173Cys)
c.3878G>T
c.4920G>T (p.Trp1640Cys)
c.4374G>T (p.Trp1458Cys)
c.4307-4274G>T (n.4307-4274G>T)
n.238G>T
n.253-4274G>T
n.40-4274G>T
c.607G>T
c.4647G>T (p.Trp1549Cys)
c.4034-4274G>T (n.4034-4274G>T)
c.3282G>T (p.Trp1094Cys)
c.5196G>T (p.Trp1732Cys)
c.3488-4274G>T (n.3488-4274G>T)
c.4923G>T (p.Trp1641Cys)
c.4377G>T (p.Trp1459Cys)
c.4580-4274G>T (n.4580-4274G>T)
c.4104G>T (p.Trp1368Cys)
c.3761-4274G>T (n.3761-4274G>T)
c.3555G>T (p.Trp1185Cys)
c.5469G>T (p.Trp1823Cys)
c.5193G>T (p.Trp1731Cys)
9g.115046615C>GCA374631271TNCc.318-4274G>C
c.3215-4274G>C (n.3215-4274G>C)
c.3831G>C (p.Trp1277Cys)
c.1863G>C (p.Trp621Cys)
c.519G>C (p.Trp173Cys)
c.3878G>C
c.4920G>C (p.Trp1640Cys)
c.4374G>C (p.Trp1458Cys)
c.4307-4274G>C (n.4307-4274G>C)
n.238G>C
n.253-4274G>C
n.40-4274G>C
c.607G>C
c.4647G>C (p.Trp1549Cys)
c.4034-4274G>C (n.4034-4274G>C)
c.3282G>C (p.Trp1094Cys)
c.5196G>C (p.Trp1732Cys)
c.3488-4274G>C (n.3488-4274G>C)
c.4923G>C (p.Trp1641Cys)
c.4377G>C (p.Trp1459Cys)
c.4580-4274G>C (n.4580-4274G>C)
c.4104G>C (p.Trp1368Cys)
c.3761-4274G>C (n.3761-4274G>C)
c.3555G>C (p.Trp1185Cys)
c.5469G>C (p.Trp1823Cys)
c.5193G>C (p.Trp1731Cys)
9g.115046615C>TCA374631272TNCc.318-4274G>A
c.3215-4274G>A (n.3215-4274G>A)
c.3831G>A (p.Trp1277Ter)
c.1863G>A (p.Trp621Ter)
c.519G>A (p.Trp173Ter)
c.3878G>A
c.4920G>A (p.Trp1640Ter)
c.4374G>A (p.Trp1458Ter)
c.4307-4274G>A (n.4307-4274G>A)
n.238G>A
n.253-4274G>A
n.40-4274G>A
c.607G>A
c.4647G>A (p.Trp1549Ter)
c.4034-4274G>A (n.4034-4274G>A)
c.3282G>A (p.Trp1094Ter)
c.5196G>A (p.Trp1732Ter)
c.3488-4274G>A (n.3488-4274G>A)
c.4923G>A (p.Trp1641Ter)
c.4377G>A (p.Trp1459Ter)
c.4580-4274G>A (n.4580-4274G>A)
c.4104G>A (p.Trp1368Ter)
c.3761-4274G>A (n.3761-4274G>A)
c.3555G>A (p.Trp1185Ter)
c.5469G>A (p.Trp1823Ter)
c.5193G>A (p.Trp1731Ter)
 gnomAD v4

Number of alleles fetched