Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.99851464G>ACA2722455098ABCC2c.4509-38G>A (n.4509-38G>A)
c.579-38G>A
c.3813-38G>A (n.3813-38G>A)
n.4573-38G>A
n.4625-38G>A
 dbSNP
10g.99851464G>CCA2610498388ABCC2c.4509-38G>C (n.4509-38G>C)
c.579-38G>C
c.3813-38G>C (n.3813-38G>C)
n.4573-38G>C
n.4625-38G>C
 gnomAD v4
10g.99851465C>ACA2610498389ABCC2c.4509-37C>A (n.4509-37C>A)
c.579-37C>A
c.3813-37C>A (n.3813-37C>A)
n.4573-37C>A
n.4625-37C>A
 gnomAD v4
10g.99851466T>CCA5644174ABCC2c.4509-36T>C (n.4509-36T>C)
c.579-36T>C
c.3813-36T>C (n.3813-36T>C)
n.4573-36T>C
n.4625-36T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.99851466T=CA1931484519ABCC2c.4509-36T= (n.4509-36T=)
c.579-36T=
c.3813-36T= (n.3813-36T=)
n.4573-36T=
n.4625-36T=
10g.99851467T>CCA2610498390ABCC2c.4509-35T>C (n.4509-35T>C)
c.579-35T>C
c.3813-35T>C (n.3813-35T>C)
n.4573-35T>C
n.4625-35T>C
 gnomAD v4
10g.99851469C>TCA2722455120ABCC2c.4509-33C>T (n.4509-33C>T)
c.579-33C>T
c.3813-33C>T (n.3813-33C>T)
n.4573-33C>T
n.4625-33C>T
 dbSNP
10g.99851470T>CCA931724835ABCC2c.4509-32T>C (n.4509-32T>C)
c.579-32T>C
c.3813-32T>C (n.3813-32T>C)
n.4573-32T>C
n.4625-32T>C
 dbSNP gnomAD v3 gnomAD v4
10g.99851470T=CA1931484522ABCC2c.4509-32T= (n.4509-32T=)
c.579-32T=
c.3813-32T= (n.3813-32T=)
n.4573-32T=
n.4625-32T=
10g.99851473G>ACA653547937ABCC2c.4509-29G>A (n.4509-29G>A)
c.579-29G>A
c.3813-29G>A (n.3813-29G>A)
n.4573-29G>A
n.4625-29G>A
 COSMIC
10g.99851473G>TCA2573817793ABCC2c.4509-29G>T (n.4509-29G>T)
c.579-29G>T
c.3813-29G>T (n.3813-29G>T)
n.4573-29G>T
n.4625-29G>T
10g.99851474A>CCA2610498391ABCC2c.4509-28A>C (n.4509-28A>C)
c.579-28A>C
c.3813-28A>C (n.3813-28A>C)
n.4573-28A>C
n.4625-28A>C
 gnomAD v4
10g.99851474A>GCA2610498392ABCC2c.4509-28A>G (n.4509-28A>G)
c.579-28A>G
c.3813-28A>G (n.3813-28A>G)
n.4573-28A>G
n.4625-28A>G
 gnomAD v4
10g.99851475C>TCA2789199255ABCC2c.4509-27C>T (n.4509-27C>T)
c.579-27C>T
c.3813-27C>T (n.3813-27C>T)
n.4573-27C>T
n.4625-27C>T
10g.99851475_99851477delinsCTTCA1931484551ABCC2c.4509-27_4509-25delinsCTT (n.4509-27_4509-25delinsCTT)
c.579-27_579-25delinsCTT
c.3813-27_3813-25delinsCTT (n.3813-27_3813-25delinsCTT)
n.4573-27_4573-25delinsCTT
n.4625-27_4625-25delinsCTT
10g.99851479delCA595453869ABCC2c.4509-23del (n.4509-23del)
c.579-23del
c.3813-23del (n.3813-23del)
n.4573-23del
n.4625-23del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.99851478_99851479delCA5644175ABCC2c.4509-24_4509-23del (n.4509-24_4509-23del)
c.579-24_579-23del
c.3813-24_3813-23del (n.3813-24_3813-23del)
n.4573-24_4573-23del
n.4625-24_4625-23del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.99851480_99851483delCA2610498393ABCC2c.4509-22_4509-19del (n.4509-22_4509-19del)
c.579-22_579-19del
c.3813-22_3813-19del (n.3813-22_3813-19del)
n.4573-22_4573-19del
n.4625-22_4625-19del
 gnomAD v4
10g.99851478T>CCA2574638768ABCC2c.4509-24T>C (n.4509-24T>C)
c.579-24T>C
c.3813-24T>C (n.3813-24T>C)
n.4573-24T>C
n.4625-24T>C
10g.99851479T>CCA595453870ABCC2c.4509-23T>C (n.4509-23T>C)
c.579-23T>C
c.3813-23T>C (n.3813-23T>C)
n.4573-23T>C
n.4625-23T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.99851479T=CA1931484554ABCC2c.4509-23T= (n.4509-23T=)
c.579-23T=
c.3813-23T= (n.3813-23T=)
n.4573-23T=
n.4625-23T=
10g.99851480A=CA1931484555ABCC2c.4509-22A= (n.4509-22A=)
c.579-22A=
c.3813-22A= (n.3813-22A=)
n.4573-22A=
n.4625-22A=
10g.99851480A>CCA5644176ABCC2c.4509-22A>C (n.4509-22A>C)
c.579-22A>C
c.3813-22A>C (n.3813-22A>C)
n.4573-22A>C
n.4625-22A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.99851480A>TCA2610498394ABCC2c.4509-22A>T (n.4509-22A>T)
c.579-22A>T
c.3813-22A>T (n.3813-22A>T)
n.4573-22A>T
n.4625-22A>T
 gnomAD v4
10g.99851484C>ACA595453871ABCC2c.4509-18C>A (n.4509-18C>A)
c.579-18C>A
c.3813-18C>A (n.3813-18C>A)
n.4573-18C>A
n.4625-18C>A
 dbSNP gnomAD v2 gnomAD v4
10g.99851484C=CA1931484557ABCC2c.4509-18C= (n.4509-18C=)
c.579-18C=
c.3813-18C= (n.3813-18C=)
n.4573-18C=
n.4625-18C=
10g.99851488C=CA1931484560ABCC2c.4509-14C= (n.4509-14C=)
c.579-14C=
c.3813-14C= (n.3813-14C=)
n.4573-14C=
n.4625-14C=
10g.99851488C>TCA5644177ABCC2c.4509-14C>T (n.4509-14C>T)
c.579-14C>T
c.3813-14C>T (n.3813-14C>T)
n.4573-14C>T
n.4625-14C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.99851490T>CCA5644178ABCC2c.4509-12T>C (n.4509-12T>C)
c.579-12T>C
c.3813-12T>C (n.3813-12T>C)
n.4573-12T>C
n.4625-12T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.99851490T=CA1931484565ABCC2c.4509-12T= (n.4509-12T=)
c.579-12T=
c.3813-12T= (n.3813-12T=)
n.4573-12T=
n.4625-12T=
10g.99851492C=CA1931484566ABCC2c.4509-10C= (n.4509-10C=)
c.579-10C=
c.3813-10C= (n.3813-10C=)
n.4573-10C=
n.4625-10C=
10g.99851492C>GCA5644179ABCC2c.4509-10C>G (n.4509-10C>G)
c.579-10C>G
c.3813-10C>G (n.3813-10C>G)
n.4573-10C>G
n.4625-10C>G
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
10g.99851492C>TCA2722333439ABCC2c.4509-10C>T (n.4509-10C>T)
c.579-10C>T
c.3813-10C>T (n.3813-10C>T)
n.4573-10C>T
n.4625-10C>T
 dbSNP
10g.99851493T>CCA202527ABCC2c.4509-9T>C (n.4509-9T>C)
c.579-9T>C
c.3813-9T>C (n.3813-9T>C)
n.4573-9T>C
n.4625-9T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.99851493T>GCA2739270985ABCC2c.4509-9T>G (n.4509-9T>G)
c.579-9T>G
c.3813-9T>G (n.3813-9T>G)
n.4573-9T>G
n.4625-9T>G
 ClinVar
10g.99851493T=CA1931484571ABCC2c.4509-9T= (n.4509-9T=)
c.579-9T=
c.3813-9T= (n.3813-9T=)
n.4573-9T=
n.4625-9T=
10g.99851498T>CCA2610498395ABCC2c.4509-4T>C (n.4509-4T>C)
c.579-4T>C
c.3813-4T>C (n.3813-4T>C)
n.4573-4T>C
n.4625-4T>C
 gnomAD v4
10g.99851499C=CA1931484577ABCC2c.4509-3C= (n.4509-3C=)
c.579-3C=
c.3813-3C= (n.3813-3C=)
n.4573-3C=
n.4625-3C=
10g.99851499C>TCA5644180ABCC2c.4509-3C>T (n.4509-3C>T)
c.579-3C>T
c.3813-3C>T (n.3813-3C>T)
n.4573-3C>T
n.4625-3C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.99851500A=CA1931484584ABCC2c.4509-2A= (n.4509-2A=)
c.579-2A=
c.3813-2A= (n.3813-2A=)
n.4573-2A=
n.4625-2A=
10g.99851500A>CCA212872918ABCC2c.4509-2A>C (n.4509-2A>C)
c.579-2A>C
c.3813-2A>C (n.3813-2A>C)
n.4573-2A>C
n.4625-2A>C
 dbSNP
10g.99851500A>GCA378130475ABCC2c.4509-2A>G (n.4509-2A>G)
c.579-2A>G
c.3813-2A>G (n.3813-2A>G)
n.4573-2A>G
n.4625-2A>G
10g.99851500A>TCA378130477ABCC2c.4509-2A>T (n.4509-2A>T)
c.579-2A>T
c.3813-2A>T (n.3813-2A>T)
n.4573-2A>T
n.4625-2A>T
10g.99851501G>ACA378130485ABCC2c.4509-1G>A (n.4509-1G>A)
c.579-1G>A
c.3813-1G>A (n.3813-1G>A)
n.4573-1G>A
n.4625-1G>A
10g.99851501G>CCA378130481ABCC2c.4509-1G>C (n.4509-1G>C)
c.579-1G>C
c.3813-1G>C (n.3813-1G>C)
n.4573-1G>C
n.4625-1G>C
10g.99851501G>TCA378130482ABCC2c.4509-1G>T (n.4509-1G>T)
c.579-1G>T
c.3813-1G>T (n.3813-1G>T)
n.4573-1G>T
n.4625-1G>T
10g.99851502G>ACA471136032ABCC2c.4509G>A (p.Lys1503=)
c.579G>A
c.3813G>A (p.Lys1271=)
n.4573G>A
n.4625G>A
 gnomAD v4
10g.99851502G>CCA378130496ABCC2c.4509G>C (p.Lys1503Asn)
c.579G>C
c.3813G>C (p.Lys1271Asn)
n.4573G>C
n.4625G>C
10g.99851502G=CA1931484587ABCC2c.4509G= (p.Lys1503=)
c.579G=
c.3813G= (p.Lys1271=)
n.4573G=
n.4625G=
10g.99851502G>TCA378130498ABCC2c.4509G>T (p.Lys1503Asn)
c.579G>T
c.3813G>T (p.Lys1271Asn)
n.4573G>T
n.4625G>T
 dbSNP gnomAD v2 gnomAD v4
10g.99851503G>ACA378130499ABCC2c.4510G>A (p.Val1504Ile)
c.580G>A
c.3814G>A (p.Val1272Ile)
n.4574G>A
n.4626G>A
 gnomAD v4
10g.99851503G>CCA378130502ABCC2c.4510G>C (p.Val1504Leu)
c.580G>C
c.3814G>C (p.Val1272Leu)
n.4574G>C
n.4626G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.99851503G=CA1931484589ABCC2c.4510G= (p.Val1504=)
c.580G=
c.3814G= (p.Val1272=)
n.4574G=
n.4626G=
10g.99851503G>TCA378130505ABCC2c.4510G>T (p.Val1504Leu)
c.580G>T
c.3814G>T (p.Val1272Leu)
n.4574G>T
n.4626G>T
10g.99851504T>ACA378130507ABCC2c.4511T>A (p.Val1504Glu)
c.581T>A
c.3815T>A (p.Val1272Glu)
n.4575T>A
n.4627T>A
10g.99851504T>CCA378130511ABCC2c.4511T>C (p.Val1504Ala)
c.581T>C
c.3815T>C (p.Val1272Ala)
n.4575T>C
n.4627T>C
10g.99851504T>GCA378130508ABCC2c.4511T>G (p.Val1504Gly)
c.581T>G
c.3815T>G (p.Val1272Gly)
n.4575T>G
n.4627T>G
10g.99851505A=CA1931484593ABCC2c.4512A= (p.Val1504=)
c.582A=
c.3816A= (p.Val1272=)
n.4576A=
n.4628A=
10g.99851505A>CCA471136034ABCC2c.4512A>C (p.Val1504=)
c.582A>C
c.3816A>C (p.Val1272=)
n.4576A>C
n.4628A>C
10g.99851505A>GCA5644181ABCC2c.4512A>G (p.Val1504=)
c.582A>G
c.3816A>G (p.Val1272=)
n.4576A>G
n.4628A>G
 ClinVar dbSNP ExAC gnomAD v4
10g.99851505A>TCA471136033ABCC2c.4512A>T (p.Val1504=)
c.582A>T
c.3816A>T (p.Val1272=)
n.4576A>T
n.4628A>T
10g.99851506A>CCA378130515ABCC2c.4513A>C (p.Met1505Leu)
c.583A>C
c.3817A>C (p.Met1273Leu)
n.4577A>C
n.4629A>C
10g.99851506A>GCA378130518ABCC2c.4513A>G (p.Met1505Val)
c.583A>G
c.3817A>G (p.Met1273Val)
n.4577A>G
n.4629A>G
 gnomAD v4
10g.99851506A>TCA378130520ABCC2c.4513A>T (p.Met1505Leu)
c.583A>T
c.3817A>T (p.Met1273Leu)
n.4577A>T
n.4629A>T
10g.99851507T>ACA378130521ABCC2c.4514T>A (p.Met1505Lys)
c.584T>A
c.3818T>A (p.Met1273Lys)
n.4578T>A
n.4630T>A
10g.99851507T>CCA378130524ABCC2c.4514T>C (p.Met1505Thr)
c.584T>C
c.3818T>C (p.Met1273Thr)
n.4578T>C
n.4630T>C
10g.99851507T>GCA378130525ABCC2c.4514T>G (p.Met1505Arg)
c.584T>G
c.3818T>G (p.Met1273Arg)
n.4578T>G
n.4630T>G
10g.99851508G>ACA378130528ABCC2c.4515G>A (p.Met1505Ile)
c.585G>A
c.3819G>A (p.Met1273Ile)
n.4579G>A
n.4631G>A
 dbSNP gnomAD v4
10g.99851508G>CCA378130531ABCC2c.4515G>C (p.Met1505Ile)
c.585G>C
c.3819G>C (p.Met1273Ile)
n.4579G>C
n.4631G>C
 dbSNP
10g.99851508G=CA1931484602ABCC2c.4515G= (p.Met1505=)
c.585G=
c.3819G= (p.Met1273=)
n.4579G=
n.4631G=
10g.99851508G>TCA378130532ABCC2c.4515G>T (p.Met1505Ile)
c.585G>T
c.3819G>T (p.Met1273Ile)
n.4579G>T
n.4631G>T
10g.99851509G>ACA378130540ABCC2c.4516G>A (p.Val1506Ile)
c.586G>A
c.3820G>A (p.Val1274Ile)
n.4580G>A
n.4632G>A
 dbSNP gnomAD v2 gnomAD v4
10g.99851509G>CCA378130538ABCC2c.4516G>C (p.Val1506Leu)
c.586G>C
c.3820G>C (p.Val1274Leu)
n.4580G>C
n.4632G>C
10g.99851509G=CA1931484605ABCC2c.4516G= (p.Val1506=)
c.586G=
c.3820G= (p.Val1274=)
n.4580G=
n.4632G=
10g.99851509G>TCA378130535ABCC2c.4516G>T (p.Val1506Phe)
c.586G>T
c.3820G>T (p.Val1274Phe)
n.4580G>T
n.4632G>T
10g.99851510delCA2574638775ABCC2c.4517del (p.Val1506AlafsTer2)
c.587del
c.3821del (p.Val1274AlafsTer2)
n.4581del
n.4633del
10g.99851510T>ACA378130549ABCC2c.4517T>A (p.Val1506Asp)
c.587T>A
c.3821T>A (p.Val1274Asp)
n.4581T>A
n.4633T>A
 gnomAD v4
10g.99851510T>CCA378130551ABCC2c.4517T>C (p.Val1506Ala)
c.587T>C
c.3821T>C (p.Val1274Ala)
n.4581T>C
n.4633T>C
10g.99851510T>GCA378130554ABCC2c.4517T>G (p.Val1506Gly)
c.587T>G
c.3821T>G (p.Val1274Gly)
n.4581T>G
n.4633T>G
10g.99851511C>ACA471136035ABCC2c.4518C>A (p.Val1506=)
c.588C>A
c.3822C>A (p.Val1274=)
n.4582C>A
n.4634C>A
10g.99851511C>GCA471136037ABCC2c.4518C>G (p.Val1506=)
c.588C>G
c.3822C>G (p.Val1274=)
n.4582C>G
n.4634C>G
10g.99851511C>TCA471136036ABCC2c.4518C>T (p.Val1506=)
c.588C>T
c.3822C>T (p.Val1274=)
n.4582C>T
n.4634C>T
10g.99851512C>ACA378130555ABCC2c.4519C>A (p.Leu1507Ile)
c.589C>A
c.3823C>A (p.Leu1275Ile)
n.4583C>A
n.4635C>A
10g.99851512C>GCA378130558ABCC2c.4519C>G (p.Leu1507Val)
c.589C>G
c.3823C>G (p.Leu1275Val)
n.4583C>G
n.4635C>G
10g.99851512C>TCA471136038ABCC2c.4519C>T (p.Leu1507=)
c.589C>T
c.3823C>T (p.Leu1275=)
n.4583C>T
n.4635C>T
 gnomAD v4
10g.99851512_99851528delinsCTAGACAACGGGAAGATCA1931484608ABCC2c.4519_4535delinsCTAGACAACGGGAAGAT (p.Leu1507=)
c.589_605delinsCTAGACAACGGGAAGAT
c.3823_3839delinsCTAGACAACGGGAAGAT (p.Leu1275=)
n.4583_4599delinsCTAGACAACGGGAAGAT
n.4635_4651delinsCTAGACAACGGGAAGAT
10g.99851513T>ACA378130559ABCC2c.4520T>A (p.Leu1507Gln)
c.590T>A
c.3824T>A (p.Leu1275Gln)
n.4584T>A
n.4636T>A
10g.99851513T>CCA378130562ABCC2c.4520T>C (p.Leu1507Pro)
c.590T>C
c.3824T>C (p.Leu1275Pro)
n.4584T>C
n.4636T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.99851513T>GCA378130563ABCC2c.4520T>G (p.Leu1507Arg)
c.590T>G
c.3824T>G (p.Leu1275Arg)
n.4584T>G
n.4636T>G
10g.99851513T=CA1931484611ABCC2c.4520T= (p.Leu1507=)
c.590T=
c.3824T= (p.Leu1275=)
n.4584T=
n.4636T=
10g.99851515_99851530delCA670645050ABCC2c.4522_4537del (p.Asp1508Ter)
c.592_607del
c.3826_3841del (p.Asp1276Ter)
n.4586_4601del
n.4638_4653del
 dbSNP
10g.99851514A>CCA471136039ABCC2c.4521A>C (p.Leu1507=)
c.591A>C
c.3825A>C (p.Leu1275=)
n.4585A>C
n.4637A>C
10g.99851514A>GCA471136040ABCC2c.4521A>G (p.Leu1507=)
c.591A>G
c.3825A>G (p.Leu1275=)
n.4585A>G
n.4637A>G
10g.99851514A>TCA471136041ABCC2c.4521A>T (p.Leu1507=)
c.591A>T
c.3825A>T (p.Leu1275=)
n.4585A>T
n.4637A>T
10g.99851515delCA2610498396ABCC2c.4522del (p.Asp1508ThrfsTer6)
c.592del
c.3826del (p.Asp1276ThrfsTer6)
n.4586del
n.4638del
 gnomAD v4
10g.99851515G>ACA378130565ABCC2c.4522G>A (p.Asp1508Asn)
c.592G>A
c.3826G>A (p.Asp1276Asn)
n.4586G>A
n.4638G>A
 gnomAD v4
10g.99851515G>CCA378130567ABCC2c.4522G>C (p.Asp1508His)
c.592G>C
c.3826G>C (p.Asp1276His)
n.4586G>C
n.4638G>C
10g.99851515G>TCA378130570ABCC2c.4522G>T (p.Asp1508Tyr)
c.592G>T
c.3826G>T (p.Asp1276Tyr)
n.4586G>T
n.4638G>T
 gnomAD v4
10g.99851516A>CCA378130571ABCC2c.4523A>C (p.Asp1508Ala)
c.593A>C
c.3827A>C (p.Asp1276Ala)
n.4587A>C
n.4639A>C
10g.99851516A>GCA378130572ABCC2c.4523A>G (p.Asp1508Gly)
c.593A>G
c.3827A>G (p.Asp1276Gly)
n.4587A>G
n.4639A>G
 gnomAD v4
10g.99851516A>TCA378130574ABCC2c.4523A>T (p.Asp1508Val)
c.593A>T
c.3827A>T (p.Asp1276Val)
n.4587A>T
n.4639A>T
10g.99851517C>ACA378130577ABCC2c.4524C>A (p.Asp1508Glu)
c.594C>A
c.3828C>A (p.Asp1276Glu)
n.4588C>A
n.4640C>A
10g.99851517C>GCA378130578ABCC2c.4524C>G (p.Asp1508Glu)
c.594C>G
c.3828C>G (p.Asp1276Glu)
n.4588C>G
n.4640C>G
10g.99851517C>TCA471136042ABCC2c.4524C>T (p.Asp1508=)
c.594C>T
c.3828C>T (p.Asp1276=)
n.4588C>T
n.4640C>T
 ClinVar
10g.99851518A>CCA378130581ABCC2c.4525A>C (p.Asn1509His)
c.595A>C
c.3829A>C (p.Asn1277His)
n.4589A>C
n.4641A>C
10g.99851518A>GCA378130583ABCC2c.4525A>G (p.Asn1509Asp)
c.595A>G
c.3829A>G (p.Asn1277Asp)
n.4589A>G
n.4641A>G
 gnomAD v4
10g.99851518A>TCA378130586ABCC2c.4525A>T (p.Asn1509Tyr)
c.595A>T
c.3829A>T (p.Asn1277Tyr)
n.4589A>T
n.4641A>T
10g.99851519A>CCA378130588ABCC2c.4526A>C (p.Asn1509Thr)
c.596A>C
c.3830A>C (p.Asn1277Thr)
n.4590A>C
n.4642A>C
10g.99851519A>GCA378130591ABCC2c.4526A>G (p.Asn1509Ser)
c.596A>G
c.3830A>G (p.Asn1277Ser)
n.4590A>G
n.4642A>G
10g.99851519A>TCA378130594ABCC2c.4526A>T (p.Asn1509Ile)
c.596A>T
c.3830A>T (p.Asn1277Ile)
n.4590A>T
n.4642A>T
10g.99851520C>ACA378130596ABCC2c.4527C>A (p.Asn1509Lys)
c.597C>A
c.3831C>A (p.Asn1277Lys)
n.4591C>A
n.4643C>A
10g.99851520C=CA1931484614ABCC2c.4527C= (p.Asn1509=)
c.597C=
c.3831C= (p.Asn1277=)
n.4591C=
n.4643C=
10g.99851520C>GCA378130599ABCC2c.4527C>G (p.Asn1509Lys)
c.597C>G
c.3831C>G (p.Asn1277Lys)
n.4591C>G
n.4643C>G
10g.99851520C>TCA202525ABCC2c.4527C>T (p.Asn1509=)
c.597C>T
c.3831C>T (p.Asn1277=)
n.4591C>T
n.4643C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.99851521G>ACA5644182ABCC2c.4528G>A (p.Gly1510Arg)
c.598G>A
c.3832G>A (p.Gly1278Arg)
n.4592G>A
n.4644G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.99851521G>CCA378130604ABCC2c.4528G>C (p.Gly1510Arg)
c.598G>C
c.3832G>C (p.Gly1278Arg)
n.4592G>C
n.4644G>C
 dbSNP
10g.99851521G=CA1931484624ABCC2c.4528G= (p.Gly1510=)
c.598G=
c.3832G= (p.Gly1278=)
n.4592G=
n.4644G=
10g.99851521G>TCA378130607ABCC2c.4528G>T (p.Gly1510Trp)
c.598G>T
c.3832G>T (p.Gly1278Trp)
n.4592G>T
n.4644G>T
10g.99851522G>ACA378130611ABCC2c.4529G>A (p.Gly1510Glu)
c.599G>A
c.3833G>A (p.Gly1278Glu)
n.4593G>A
n.4645G>A
 COSMIC
10g.99851522G>CCA378130614ABCC2c.4529G>C (p.Gly1510Ala)
c.599G>C
c.3833G>C (p.Gly1278Ala)
n.4593G>C
n.4645G>C
10g.99851522G>TCA378130612ABCC2c.4529G>T (p.Gly1510Val)
c.599G>T
c.3833G>T (p.Gly1278Val)
n.4593G>T
n.4645G>T
10g.99851522_99851523insACA212872925ABCC2c.4529_4530insA (p.Lys1511GlufsTer9)
c.599_600insA
c.3833_3834insA (p.Lys1279GlufsTer9)
n.4593_4594insA
n.4645_4646insA
10g.99851523G>ACA471136043ABCC2c.4530G>A (p.Gly1510=)
c.600G>A
c.3834G>A (p.Gly1278=)
n.4594G>A
n.4646G>A
 ClinVar
10g.99851523G>CCA471136044ABCC2c.4530G>C (p.Gly1510=)
c.600G>C
c.3834G>C (p.Gly1278=)
n.4594G>C
n.4646G>C
10g.99851523G=CA1931484628ABCC2c.4530G= (p.Gly1510=)
c.600G=
c.3834G= (p.Gly1278=)
n.4594G=
n.4646G=
10g.99851523G>TCA471136045ABCC2c.4530G>T (p.Gly1510=)
c.600G>T
c.3834G>T (p.Gly1278=)
n.4594G>T
n.4646G>T
10g.99851524A=CA1931484633ABCC2c.4531A= (p.Lys1511=)
c.601A=
c.3835A= (p.Lys1279=)
n.4595A=
n.4647A=
10g.99851524A>CCA378130620ABCC2c.4531A>C (p.Lys1511Gln)
c.601A>C
c.3835A>C (p.Lys1279Gln)
n.4595A>C
n.4647A>C
10g.99851524A>GCA212872943ABCC2c.4531A>G (p.Lys1511Glu)
c.601A>G
c.3835A>G (p.Lys1279Glu)
n.4595A>G
n.4647A>G
 dbSNP gnomAD v3 gnomAD v4
10g.99851524A>TCA378130622ABCC2c.4531A>T (p.Lys1511Ter)
c.601A>T
c.3835A>T (p.Lys1279Ter)
n.4595A>T
n.4647A>T
10g.99851525dupCA5644183ABCC2c.4532dup (p.Ile1512AspfsTer8)
c.602dup
c.3836dup (p.Ile1280AspfsTer8)
n.4596dup
n.4648dup
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.99851525A=CA1931484638ABCC2c.4532A= (p.Lys1511=)
c.602A=
c.3836A= (p.Lys1279=)
n.4596A=
n.4648A=
10g.99851525A>CCA378130626ABCC2c.4532A>C (p.Lys1511Thr)
c.602A>C
c.3836A>C (p.Lys1279Thr)
n.4596A>C
n.4648A>C
10g.99851525A>GCA378130628ABCC2c.4532A>G (p.Lys1511Arg)
c.602A>G
c.3836A>G (p.Lys1279Arg)
n.4596A>G
n.4648A>G
 dbSNP gnomAD v2 gnomAD v4
10g.99851525A>TCA378130629ABCC2c.4532A>T (p.Lys1511Met)
c.602A>T
c.3836A>T (p.Lys1279Met)
n.4596A>T
n.4648A>T
10g.99851526G>ACA471136046ABCC2c.4533G>A (p.Lys1511=)
c.603G>A
c.3837G>A (p.Lys1279=)
n.4597G>A
n.4649G>A
 dbSNP
10g.99851526G>CCA378130632ABCC2c.4533G>C (p.Lys1511Asn)
c.603G>C
c.3837G>C (p.Lys1279Asn)
n.4597G>C
n.4649G>C
10g.99851526G=CA1931484643ABCC2c.4533G= (p.Lys1511=)
c.603G=
c.3837G= (p.Lys1279=)
n.4597G=
n.4649G=
10g.99851526G>TCA378130633ABCC2c.4533G>T (p.Lys1511Asn)
c.603G>T
c.3837G>T (p.Lys1279Asn)
n.4597G>T
n.4649G>T
10g.99851527A>CCA378130636ABCC2c.4534A>C (p.Ile1512Leu)
c.604A>C
c.3838A>C (p.Ile1280Leu)
n.4598A>C
n.4650A>C
10g.99851527A>GCA378130637ABCC2c.4534A>G (p.Ile1512Val)
c.604A>G
c.3838A>G (p.Ile1280Val)
n.4598A>G
n.4650A>G
10g.99851527A>TCA378130638ABCC2c.4534A>T (p.Ile1512Phe)
c.604A>T
c.3838A>T (p.Ile1280Phe)
n.4598A>T
n.4650A>T
10g.99851528T>ACA378130640ABCC2c.4535T>A (p.Ile1512Asn)
c.605T>A
c.3839T>A (p.Ile1280Asn)
n.4599T>A
n.4651T>A
10g.99851528T>CCA378130642ABCC2c.4535T>C (p.Ile1512Thr)
c.605T>C
c.3839T>C (p.Ile1280Thr)
n.4599T>C
n.4651T>C
 gnomAD v4
10g.99851528T>GCA378130644ABCC2c.4535T>G (p.Ile1512Ser)
c.605T>G
c.3839T>G (p.Ile1280Ser)
n.4599T>G
n.4651T>G
 COSMIC
10g.99851529delCA2695212538ABCC2c.4536del (p.Ile1513Ter)
c.606del
c.3840del (p.Ile1281Ter)
n.4600del
n.4652del
10g.99851529T>ACA471136047ABCC2c.4536T>A (p.Ile1512=)
c.606T>A
c.3840T>A (p.Ile1280=)
n.4600T>A
n.4652T>A
10g.99851529T>CCA471136048ABCC2c.4536T>C (p.Ile1512=)
c.606T>C
c.3840T>C (p.Ile1280=)
n.4600T>C
n.4652T>C
10g.99851529T>GCA378130645ABCC2c.4536T>G (p.Ile1512Met)
c.606T>G
c.3840T>G (p.Ile1280Met)
n.4600T>G
n.4652T>G
10g.99851530A>CCA378130646ABCC2c.4537A>C (p.Ile1513Leu)
c.607A>C
c.3841A>C (p.Ile1281Leu)
n.4601A>C
n.4653A>C
10g.99851530A>GCA378130648ABCC2c.4537A>G (p.Ile1513Val)
c.607A>G
c.3841A>G (p.Ile1281Val)
n.4601A>G
n.4653A>G
 gnomAD v4
10g.99851530A>TCA378130651ABCC2c.4537A>T (p.Ile1513Leu)
c.607A>T
c.3841A>T (p.Ile1281Leu)
n.4601A>T
n.4653A>T
 gnomAD v4
10g.99851531T>ACA378130654ABCC2c.4538T>A (p.Ile1513Lys)
c.608T>A
c.3842T>A (p.Ile1281Lys)
n.4602T>A
n.4654T>A
10g.99851531T>CCA378130657ABCC2c.4538T>C (p.Ile1513Thr)
c.608T>C
c.3842T>C (p.Ile1281Thr)
n.4602T>C
n.4654T>C
 ClinVar dbSNP
10g.99851531T>GCA378130659ABCC2c.4538T>G (p.Ile1513Arg)
c.608T>G
c.3842T>G (p.Ile1281Arg)
n.4602T>G
n.4654T>G
10g.99851531T=CA1931484650ABCC2c.4538T= (p.Ile1513=)
c.608T=
c.3842T= (p.Ile1281=)
n.4602T=
n.4654T=
10g.99851531dupCA2610498397ABCC2c.4538dup (p.Glu1514ArgfsTer6)
c.608dup
c.3842dup (p.Glu1282ArgfsTer6)
n.4602dup
n.4654dup
 gnomAD v4
10g.99851532A>CCA471136049ABCC2c.4539A>C (p.Ile1513=)
c.609A>C
c.3843A>C (p.Ile1281=)
n.4603A>C
n.4655A>C
10g.99851532A>GCA378130661ABCC2c.4539A>G (p.Ile1513Met)
c.609A>G
c.3843A>G (p.Ile1281Met)
n.4603A>G
n.4655A>G
10g.99851532A>TCA471136050ABCC2c.4539A>T (p.Ile1513=)
c.609A>T
c.3843A>T (p.Ile1281=)
n.4603A>T
n.4655A>T
10g.99851533G>ACA378130662ABCC2c.4540G>A (p.Glu1514Lys)
c.610G>A
c.3844G>A (p.Glu1282Lys)
 gnomAD v4
10g.99851533G>CCA378130663ABCC2c.4540G>C (p.Glu1514Gln)
c.610G>C
c.3844G>C (p.Glu1282Gln)
10g.99851533G>TCA378130666ABCC2c.4540G>T (p.Glu1514Ter)
c.610G>T
c.3844G>T (p.Glu1282Ter)
10g.99851534A>CCA378130668ABCC2c.4541A>C (p.Glu1514Ala)
c.611A>C
c.3845A>C (p.Glu1282Ala)
10g.99851534A>GCA378130670ABCC2c.4541A>G (p.Glu1514Gly)
c.611A>G
c.3845A>G (p.Glu1282Gly)
10g.99851534A>TCA378130672ABCC2c.4541A>T (p.Glu1514Val)
c.611A>T
c.3845A>T (p.Glu1282Val)
10g.99851535G>ACA471136051ABCC2c.4542G>A (p.Glu1514=)
c.612G>A
c.3846G>A (p.Glu1282=)
 gnomAD v4
10g.99851535G>CCA378130675ABCC2c.4542G>C (p.Glu1514Asp)
c.612G>C
c.3846G>C (p.Glu1282Asp)
10g.99851535G>TCA378130674ABCC2c.4542G>T (p.Glu1514Asp)
c.612G>T
c.3846G>T (p.Glu1282Asp)
 COSMIC
10g.99851536T>ACA378130679ABCC2c.4543T>A (p.Cys1515Ser)
c.613T>A
c.3847T>A (p.Cys1283Ser)
10g.99851536T>CCA378130681ABCC2c.4543T>C (p.Cys1515Arg)
c.613T>C
c.3847T>C (p.Cys1283Arg)
 gnomAD v4
10g.99851536T>GCA378130683ABCC2c.4543T>G (p.Cys1515Gly)
c.613T>G
c.3847T>G (p.Cys1283Gly)
10g.99851537G>ACA5644184ABCC2c.4544G>A (p.Cys1515Tyr)
c.614G>A
c.3848G>A (p.Cys1283Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.99851537G>CCA378130687ABCC2c.4544G>C (p.Cys1515Ser)
c.614G>C
c.3848G>C (p.Cys1283Ser)
10g.99851537G=CA1931484653ABCC2c.4544G= (p.Cys1515=)
c.614G=
c.3848G= (p.Cys1283=)
10g.99851537G>TCA378130688ABCC2c.4544G>T (p.Cys1515Phe)
c.614G>T
c.3848G>T (p.Cys1283Phe)
10g.99851538C>ACA378130692ABCC2c.4545C>A (p.Cys1515Ter)
c.615C>A
c.3849C>A (p.Cys1283Ter)
10g.99851538C=CA1931484663ABCC2c.4545C= (p.Cys1515=)
c.615C=
c.3849C= (p.Cys1283=)
10g.99851538C>GCA378130690ABCC2c.4545C>G (p.Cys1515Trp)
c.615C>G
c.3849C>G (p.Cys1283Trp)
10g.99851538C>TCA5644185ABCC2c.4545C>T (p.Cys1515=)
c.615C>T
c.3849C>T (p.Cys1283=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.99851539G>ACA5644186ABCC2c.4546G>A (p.Gly1516Ser)
c.616G>A
c.3850G>A (p.Gly1284Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.99851539G>CCA378130695ABCC2c.4546G>C (p.Gly1516Arg)
c.616G>C
c.3850G>C (p.Gly1284Arg)
10g.99851539G=CA1931484667ABCC2c.4546G= (p.Gly1516=)
c.616G=
c.3850G= (p.Gly1284=)
10g.99851539G>TCA378130698ABCC2c.4546G>T (p.Gly1516Cys)
c.616G>T
c.3850G>T (p.Gly1284Cys)
10g.99851540G>ACA378130701ABCC2c.4547G>A (p.Gly1516Asp)
c.617G>A
c.3851G>A (p.Gly1284Asp)
 dbSNP gnomAD v4
10g.99851540G>CCA378130702ABCC2c.4547G>C (p.Gly1516Ala)
c.617G>C
c.3851G>C (p.Gly1284Ala)
10g.99851540G>TCA378130704ABCC2c.4547G>T (p.Gly1516Val)
c.617G>T
c.3851G>T (p.Gly1284Val)
10g.99851541C>ACA471136052ABCC2c.4548C>A (p.Gly1516=)
c.618C>A
c.3852C>A (p.Gly1284=)
10g.99851541C>GCA471136053ABCC2c.4548C>G (p.Gly1516=)
c.618C>G
c.3852C>G (p.Gly1284=)
10g.99851541C>TCA471136054ABCC2c.4548C>T (p.Gly1516=)
c.618C>T
c.3852C>T (p.Gly1284=)
10g.99851542A>CCA378130706ABCC2c.4549A>C (p.Ser1517Arg)
c.619A>C
c.3853A>C (p.Ser1285Arg)
10g.99851542A>GCA378130711ABCC2c.4549A>G (p.Ser1517Gly)
c.619A>G
c.3853A>G (p.Ser1285Gly)
10g.99851542A>TCA378130709ABCC2c.4549A>T (p.Ser1517Cys)
c.619A>T
c.3853A>T (p.Ser1285Cys)
10g.99851543G>ACA378130713ABCC2c.4550G>A (p.Ser1517Asn)
c.620G>A
c.3854G>A (p.Ser1285Asn)
 dbSNP
10g.99851543G>CCA378130714ABCC2c.4550G>C (p.Ser1517Thr)
c.620G>C
c.3854G>C (p.Ser1285Thr)
10g.99851543G>TCA378130717ABCC2c.4550G>T (p.Ser1517Ile)
c.620G>T
c.3854G>T (p.Ser1285Ile)
 gnomAD v4
10g.99851544C>ACA378130719ABCC2c.4551C>A (p.Ser1517Arg)
c.621C>A
c.3855C>A (p.Ser1285Arg)
10g.99851544C>GCA378130722ABCC2c.4551C>G (p.Ser1517Arg)
c.621C>G
c.3855C>G (p.Ser1285Arg)
10g.99851544C>TCA471136055ABCC2c.4551C>T (p.Ser1517=)
c.621C>T
c.3855C>T (p.Ser1285=)
 dbSNP
10g.99851545C>ACA378130725ABCC2c.4552C>A (p.Pro1518Thr)
c.622C>A
c.3856C>A (p.Pro1286Thr)
10g.99851545C>GCA378130727ABCC2c.4552C>G (p.Pro1518Ala)
c.622C>G
c.3856C>G (p.Pro1286Ala)
 gnomAD v4
10g.99851545C>TCA378130728ABCC2c.4552C>T (p.Pro1518Ser)
c.622C>T
c.3856C>T (p.Pro1286Ser)
 gnomAD v4
10g.99851546C>ACA378130730ABCC2c.4553C>A (p.Pro1518His)
c.623C>A
c.3857C>A (p.Pro1286His)
10g.99851546C=CA1931484673ABCC2c.4553C= (p.Pro1518=)
c.623C=
c.3857C= (p.Pro1286=)
10g.99851546C>GCA5644187ABCC2c.4553C>G (p.Pro1518Arg)
c.623C>G
c.3857C>G (p.Pro1286Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.99851546C>TCA378130734ABCC2c.4553C>T (p.Pro1518Leu)
c.623C>T
c.3857C>T (p.Pro1286Leu)
10g.99851547T>ACA471136058ABCC2c.4554T>A (p.Pro1518=)
c.624T>A
c.3858T>A (p.Pro1286=)
10g.99851547T>CCA471136057ABCC2c.4554T>C (p.Pro1518=)
c.624T>C
c.3858T>C (p.Pro1286=)
10g.99851547T>GCA471136056ABCC2c.4554T>G (p.Pro1518=)
c.624T>G
c.3858T>G (p.Pro1286=)
10g.99851548G>ACA378130737ABCC2c.4555G>A (p.Glu1519Lys)
c.625G>A
c.3859G>A (p.Glu1287Lys)
 ClinVar dbSNP
10g.99851548G>CCA378130741ABCC2c.4555G>C (p.Glu1519Gln)
c.625G>C
c.3859G>C (p.Glu1287Gln)
10g.99851548G=CA1931484683ABCC2c.4555G= (p.Glu1519=)
c.625G=
c.3859G= (p.Glu1287=)
10g.99851548G>TCA378130739ABCC2c.4555G>T (p.Glu1519Ter)
c.625G>T
c.3859G>T (p.Glu1287Ter)
10g.99851549A>CCA378130743ABCC2c.4556A>C (p.Glu1519Ala)
c.626A>C
c.3860A>C (p.Glu1287Ala)
10g.99851549A>GCA378130746ABCC2c.4556A>G (p.Glu1519Gly)
c.626A>G
c.3860A>G (p.Glu1287Gly)
 gnomAD v4
10g.99851549A>TCA378130745ABCC2c.4556A>T (p.Glu1519Val)
c.626A>T
c.3860A>T (p.Glu1287Val)
10g.99851550A=CA1931484698ABCC2c.4557A= (p.Glu1519=)
c.627A=
c.3861A= (p.Glu1287=)
10g.99851550A>CCA5644188ABCC2c.4557A>C (p.Glu1519Asp)
c.627A>C
c.3861A>C (p.Glu1287Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.99851550A>GCA471136059ABCC2c.4557A>G (p.Glu1519=)
c.627A>G
c.3861A>G (p.Glu1287=)
10g.99851550A>TCA378130749ABCC2c.4557A>T (p.Glu1519Asp)
c.627A>T
c.3861A>T (p.Glu1287Asp)
10g.99851551G>ACA212872977ABCC2c.4558G>A (p.Glu1520Lys)
c.628G>A
c.3862G>A (p.Glu1288Lys)
 dbSNP
10g.99851551G>CCA378130750ABCC2c.4558G>C (p.Glu1520Gln)
c.628G>C
c.3862G>C (p.Glu1288Gln)
10g.99851551G=CA1931484705ABCC2c.4558G= (p.Glu1520=)
c.628G=
c.3862G= (p.Glu1288=)
10g.99851551G>TCA378130752ABCC2c.4558G>T (p.Glu1520Ter)
c.628G>T
c.3862G>T (p.Glu1288Ter)
10g.99851552A>CCA378130755ABCC2c.4559A>C (p.Glu1520Ala)
c.629A>C
c.3863A>C (p.Glu1288Ala)
10g.99851552A>GCA378130756ABCC2c.4559A>G (p.Glu1520Gly)
c.629A>G
c.3863A>G (p.Glu1288Gly)
10g.99851552A>TCA378130759ABCC2c.4559A>T (p.Glu1520Val)
c.629A>T
c.3863A>T (p.Glu1288Val)
10g.99851553A>CCA378130761ABCC2c.4560A>C (p.Glu1520Asp)
c.630A>C
c.3864A>C (p.Glu1288Asp)
 gnomAD v4
10g.99851553A>GCA471136060ABCC2c.4560A>G (p.Glu1520=)
c.630A>G
c.3864A>G (p.Glu1288=)
10g.99851553A>TCA378130763ABCC2c.4560A>T (p.Glu1520Asp)
c.630A>T
c.3864A>T (p.Glu1288Asp)
10g.99851553_99851554delinsACCA1931484712ABCC2c.4560_4561delinsAC (p.Glu1520=)
c.630_631delinsAC
c.3864_3865delinsAC (p.Glu1288=)
10g.99851553_99851556delinsACTGCA1931484711ABCC2c.4560_4563delinsACTG (p.Glu1520=)
c.630_633delinsACTG
c.3864_3867delinsACTG (p.Glu1288=)
10g.99851554delCA658797522ABCC2c.4561del (p.Leu1521CysfsTer20)
c.631del
c.3865del (p.Leu1289CysfsTer20)
 ClinVar dbSNP
10g.99851554C>ACA378130765ABCC2c.4561C>A (p.Leu1521Met)
c.631C>A
c.3865C>A (p.Leu1289Met)
10g.99851554C>GCA378130767ABCC2c.4561C>G (p.Leu1521Val)
c.631C>G
c.3865C>G (p.Leu1289Val)
10g.99851554C>TCA471136061ABCC2c.4561C>T (p.Leu1521=)
c.631C>T
c.3865C>T (p.Leu1289=)
10g.99851556_99851558delCA595453942ABCC2c.4563_4565del (p.Leu1522del)
c.633_635del
c.3867_3869del (p.Leu1290del)
 dbSNP gnomAD v2
10g.99851555T>ACA378130769ABCC2c.4562T>A (p.Leu1521Gln)
c.632T>A
c.3866T>A (p.Leu1289Gln)
10g.99851555T>CCA378130772ABCC2c.4562T>C (p.Leu1521Pro)
c.632T>C
c.3866T>C (p.Leu1289Pro)
10g.99851555T>GCA5644189ABCC2c.4562T>G (p.Leu1521Arg)
c.632T>G
c.3866T>G (p.Leu1289Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.99851555T=CA1931484727ABCC2c.4562T= (p.Leu1521=)
c.632T=
c.3866T= (p.Leu1289=)
10g.99851556G>ACA471136062ABCC2c.4563G>A (p.Leu1521=)
c.633G>A
c.3867G>A (p.Leu1289=)
10g.99851556G>CCA471136063ABCC2c.4563G>C (p.Leu1521=)
c.633G>C
c.3867G>C (p.Leu1289=)
 dbSNP gnomAD v3 gnomAD v4
10g.99851556G=CA1931484734ABCC2c.4563G= (p.Leu1521=)
c.633G=
c.3867G= (p.Leu1289=)
10g.99851556G>TCA471136064ABCC2c.4563G>T (p.Leu1521=)
c.633G>T
c.3867G>T (p.Leu1289=)
 gnomAD v4
10g.99851557C>ACA378130774ABCC2c.4564C>A (p.Leu1522Ile)
c.634C>A
c.3868C>A (p.Leu1290Ile)
10g.99851557C>GCA378130775ABCC2c.4564C>G (p.Leu1522Val)
c.634C>G
c.3868C>G (p.Leu1290Val)
10g.99851557C>TCA471136065ABCC2c.4564C>T (p.Leu1522=)
c.634C>T
c.3868C>T (p.Leu1290=)
10g.99851558T>ACA378130777ABCC2c.4565T>A (p.Leu1522Gln)
c.635T>A
c.3869T>A (p.Leu1290Gln)
 gnomAD v4
10g.99851558T>CCA5644190ABCC2c.4565T>C (p.Leu1522Pro)
c.635T>C
c.3869T>C (p.Leu1290Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.99851558T>GCA378130780ABCC2c.4565T>G (p.Leu1522Arg)
c.635T>G
c.3869T>G (p.Leu1290Arg)
10g.99851558T=CA1931484740ABCC2c.4565T= (p.Leu1522=)
c.635T=
c.3869T= (p.Leu1290=)
10g.99851559delCA2610498398ABCC2c.4566del (p.Gln1523LysfsTer18)
c.636del
c.3870del (p.Gln1291LysfsTer18)
 gnomAD v4
10g.99851559A=CA1931484743ABCC2c.4566A= (p.Leu1522=)
c.636A=
c.3870A= (p.Leu1290=)
10g.99851559A>CCA471136066ABCC2c.4566A>C (p.Leu1522=)
c.636A>C
c.3870A>C (p.Leu1290=)
 ClinVar dbSNP
10g.99851559A>GCA5644191ABCC2c.4566A>G (p.Leu1522=)
c.636A>G
c.3870A>G (p.Leu1290=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.99851559A>TCA471136067ABCC2c.4566A>T (p.Leu1522=)
c.636A>T
c.3870A>T (p.Leu1290=)
10g.99851560C>ACA378130782ABCC2c.4567C>A (p.Gln1523Lys)
c.637C>A
c.3871C>A (p.Gln1291Lys)
10g.99851560C=CA1931484753ABCC2c.4567C= (p.Gln1523=)
c.637C=
c.3871C= (p.Gln1291=)
10g.99851560C>GCA378130785ABCC2c.4567C>G (p.Gln1523Glu)
c.637C>G
c.3871C>G (p.Gln1291Glu)
10g.99851560C>TCA378130786ABCC2c.4567C>T (p.Gln1523Ter)
c.637C>T
c.3871C>T (p.Gln1291Ter)
10g.99851561A=CA1931484765ABCC2c.4568A= (p.Gln1523=)
c.638A=
c.3872A= (p.Gln1291=)
10g.99851561A>CCA5644192ABCC2c.4568A>C (p.Gln1523Pro)
c.638A>C
c.3872A>C (p.Gln1291Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.99851561A>GCA378130792ABCC2c.4568A>G (p.Gln1523Arg)
c.638A>G
c.3872A>G (p.Gln1291Arg)
10g.99851561A>TCA378130789ABCC2c.4568A>T (p.Gln1523Leu)
c.638A>T
c.3872A>T (p.Gln1291Leu)
 gnomAD v4 COSMIC
10g.99851561_99851562insTTTGTACA1931484761ABCC2c.4568_4569insTTTGTA (p.Gln1523HisfsTer3)
c.638_639insTTTGTA
c.3872_3873insTTTGTA (p.Gln1291HisfsTer3)
 dbSNP
10g.99851563_99851564insGCAGTGAAAACA2722455281ABCC2c.4570_4571insGCAGTGAAAA (p.Ile1524SerfsTer13)
c.640_641insGCAGTGAAAA
c.3874_3875insGCAGTGAAAA (p.Ile1292SerfsTer13)
 dbSNP
10g.99851561_99851562insTTTGTCA595453943ABCC2c.4568_4569insTTTGT (p.Gln1523HisfsTer3)
c.638_639insTTTGT
c.3872_3873insTTTGT (p.Gln1291HisfsTer3)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.99851562A>CCA378130794ABCC2c.4569A>C (p.Gln1523His)
c.639A>C
c.3873A>C (p.Gln1291His)
10g.99851562A>GCA471136068ABCC2c.4569A>G (p.Gln1523=)
c.639A>G
c.3873A>G (p.Gln1291=)
10g.99851562A>TCA378130796ABCC2c.4569A>T (p.Gln1523His)
c.639A>T
c.3873A>T (p.Gln1291His)

Number of alleles fetched