Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.115046514G>ACA374630902TNCc.318-4173C>T
c.3215-4173C>T (n.3215-4173C>T)
c.3932C>T (p.Thr1311Ile)
c.1964C>T (p.Thr655Ile)
c.620C>T (p.Thr207Ile)
c.3979C>T
c.5021C>T (p.Thr1674Ile)
c.4475C>T (p.Thr1492Ile)
c.4307-4173C>T (n.4307-4173C>T)
n.339C>T
n.253-4173C>T
n.40-4173C>T
c.708C>T
c.4748C>T (p.Thr1583Ile)
c.4034-4173C>T (n.4034-4173C>T)
c.3383C>T (p.Thr1128Ile)
c.5297C>T (p.Thr1766Ile)
c.3488-4173C>T (n.3488-4173C>T)
c.5024C>T (p.Thr1675Ile)
c.4478C>T (p.Thr1493Ile)
c.4580-4173C>T (n.4580-4173C>T)
c.4205C>T (p.Thr1402Ile)
c.3761-4173C>T (n.3761-4173C>T)
c.3656C>T (p.Thr1219Ile)
c.5570C>T (p.Thr1857Ile)
c.5294C>T (p.Thr1765Ile)
9g.115046514G>CCA374630903TNCc.318-4173C>G
c.3215-4173C>G (n.3215-4173C>G)
c.3932C>G (p.Thr1311Ser)
c.1964C>G (p.Thr655Ser)
c.620C>G (p.Thr207Ser)
c.3979C>G
c.5021C>G (p.Thr1674Ser)
c.4475C>G (p.Thr1492Ser)
c.4307-4173C>G (n.4307-4173C>G)
n.339C>G
n.253-4173C>G
n.40-4173C>G
c.708C>G
c.4748C>G (p.Thr1583Ser)
c.4034-4173C>G (n.4034-4173C>G)
c.3383C>G (p.Thr1128Ser)
c.5297C>G (p.Thr1766Ser)
c.3488-4173C>G (n.3488-4173C>G)
c.5024C>G (p.Thr1675Ser)
c.4478C>G (p.Thr1493Ser)
c.4580-4173C>G (n.4580-4173C>G)
c.4205C>G (p.Thr1402Ser)
c.3761-4173C>G (n.3761-4173C>G)
c.3656C>G (p.Thr1219Ser)
c.5570C>G (p.Thr1857Ser)
c.5294C>G (p.Thr1765Ser)
 ClinVar dbSNP
9g.115046514G=CA1874118896TNCc.318-4173C=
c.3215-4173C= (n.3215-4173C=)
c.3932C= (p.Thr1311=)
c.1964C= (p.Thr655=)
c.620C= (p.Thr207=)
c.3979C=
c.5021C= (p.Thr1674=)
c.4475C= (p.Thr1492=)
c.4307-4173C= (n.4307-4173C=)
n.339C=
n.253-4173C=
n.40-4173C=
c.708C=
c.4748C= (p.Thr1583=)
c.4034-4173C= (n.4034-4173C=)
c.3383C= (p.Thr1128=)
c.5297C= (p.Thr1766=)
c.3488-4173C= (n.3488-4173C=)
c.5024C= (p.Thr1675=)
c.4478C= (p.Thr1493=)
c.4580-4173C= (n.4580-4173C=)
c.4205C= (p.Thr1402=)
c.3761-4173C= (n.3761-4173C=)
c.3656C= (p.Thr1219=)
c.5570C= (p.Thr1857=)
c.5294C= (p.Thr1765=)
9g.115046514G>TCA374630905TNCc.318-4173C>A
c.3215-4173C>A (n.3215-4173C>A)
c.3932C>A (p.Thr1311Asn)
c.1964C>A (p.Thr655Asn)
c.620C>A (p.Thr207Asn)
c.3979C>A
c.5021C>A (p.Thr1674Asn)
c.4475C>A (p.Thr1492Asn)
c.4307-4173C>A (n.4307-4173C>A)
n.339C>A
n.253-4173C>A
n.40-4173C>A
c.708C>A
c.4748C>A (p.Thr1583Asn)
c.4034-4173C>A (n.4034-4173C>A)
c.3383C>A (p.Thr1128Asn)
c.5297C>A (p.Thr1766Asn)
c.3488-4173C>A (n.3488-4173C>A)
c.5024C>A (p.Thr1675Asn)
c.4478C>A (p.Thr1493Asn)
c.4580-4173C>A (n.4580-4173C>A)
c.4205C>A (p.Thr1402Asn)
c.3761-4173C>A (n.3761-4173C>A)
c.3656C>A (p.Thr1219Asn)
c.5570C>A (p.Thr1857Asn)
c.5294C>A (p.Thr1765Asn)
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=)

Number of alleles fetched