Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.214978852A>CCA431147189ABCA12c.4929T>G (p.Gly1643=)
c.3975T>G (p.Gly1325=)
n.5229T>G
c.4938T>G (p.Gly1646=)
n.5427T>G
2g.214978852A>GCA431147192ABCA12c.4929T>C (p.Gly1643=)
c.3975T>C (p.Gly1325=)
n.5229T>C
c.4938T>C (p.Gly1646=)
n.5427T>C
2g.214978852A>TCA431147194ABCA12c.4929T>A (p.Gly1643=)
c.3975T>A (p.Gly1325=)
n.5229T>A
c.4938T>A (p.Gly1646=)
n.5427T>A
2g.214978853C>ACA2091349ABCA12c.4928G>T (p.Gly1643Val)
c.3974G>T (p.Gly1325Val)
n.5228G>T
c.4937G>T (p.Gly1646Val)
n.5426G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214978853C=CA1327160326ABCA12c.4928G= (p.Gly1643=)
c.3974G= (p.Gly1325=)
n.5228G=
c.4937G= (p.Gly1646=)
n.5426G=
2g.214978853C>GCA350459685ABCA12c.4928G>C (p.Gly1643Ala)
c.3974G>C (p.Gly1325Ala)
n.5228G>C
c.4937G>C (p.Gly1646Ala)
n.5426G>C
2g.214978853C>TCA350459683ABCA12c.4928G>A (p.Gly1643Asp)
c.3974G>A (p.Gly1325Asp)
n.5228G>A
c.4937G>A (p.Gly1646Asp)
n.5426G>A
2g.214978854C>ACA2091351ABCA12c.4927G>T (p.Gly1643Cys)
c.3973G>T (p.Gly1325Cys)
n.5227G>T
c.4936G>T (p.Gly1646Cys)
n.5425G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214978854C=CA1327160327ABCA12c.4927G= (p.Gly1643=)
c.3973G= (p.Gly1325=)
n.5227G=
c.4936G= (p.Gly1646=)
n.5425G=
2g.214978854C>GCA2091350ABCA12c.4927G>C (p.Gly1643Arg)
c.3973G>C (p.Gly1325Arg)
n.5227G>C
c.4936G>C (p.Gly1646Arg)
n.5425G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214978854C>TCA350459687ABCA12c.4927G>A (p.Gly1643Ser)
c.3973G>A (p.Gly1325Ser)
n.5227G>A
c.4936G>A (p.Gly1646Ser)
n.5425G>A
 ClinVar dbSNP
2g.214978855C>ACA350459690ABCA12c.4926G>T (p.Met1642Ile)
c.3972G>T (p.Met1324Ile)
n.5226G>T
c.4935G>T (p.Met1645Ile)
n.5424G>T
 COSMIC COSMIC
2g.214978855C>GCA350459693ABCA12c.4926G>C (p.Met1642Ile)
c.3972G>C (p.Met1324Ile)
n.5226G>C
c.4935G>C (p.Met1645Ile)
n.5424G>C
2g.214978855C>TCA350459695ABCA12c.4926G>A (p.Met1642Ile)
c.3972G>A (p.Met1324Ile)
n.5226G>A
c.4935G>A (p.Met1645Ile)
n.5424G>A
2g.214978856A>CCA350459698ABCA12c.4925T>G (p.Met1642Arg)
c.3971T>G (p.Met1324Arg)
n.5225T>G
c.4934T>G (p.Met1645Arg)
n.5423T>G
2g.214978856A>GCA350459700ABCA12c.4925T>C (p.Met1642Thr)
c.3971T>C (p.Met1324Thr)
n.5225T>C
c.4934T>C (p.Met1645Thr)
n.5423T>C
2g.214978856A>TCA350459705ABCA12c.4925T>A (p.Met1642Lys)
c.3971T>A (p.Met1324Lys)
n.5225T>A
c.4934T>A (p.Met1645Lys)
n.5423T>A
2g.214978857T>ACA350459708ABCA12c.4924A>T (p.Met1642Leu)
c.3970A>T (p.Met1324Leu)
n.5224A>T
c.4933A>T (p.Met1645Leu)
n.5422A>T
2g.214978857T>CCA350459710ABCA12c.4924A>G (p.Met1642Val)
c.3970A>G (p.Met1324Val)
n.5224A>G
c.4933A>G (p.Met1645Val)
n.5422A>G
2g.214978857T>GCA350459711ABCA12c.4924A>C (p.Met1642Leu)
c.3970A>C (p.Met1324Leu)
n.5224A>C
c.4933A>C (p.Met1645Leu)
n.5422A>C
2g.214978858G>ACA431147229ABCA12c.4923C>T (p.Gly1641=)
c.3969C>T (p.Gly1323=)
n.5223C>T
c.4932C>T (p.Gly1644=)
n.5421C>T
2g.214978858G>CCA431147232ABCA12c.4923C>G (p.Gly1641=)
c.3969C>G (p.Gly1323=)
n.5223C>G
c.4932C>G (p.Gly1644=)
n.5421C>G
2g.214978858G>TCA431147234ABCA12c.4923C>A (p.Gly1641=)
c.3969C>A (p.Gly1323=)
n.5223C>A
c.4932C>A (p.Gly1644=)
n.5421C>A
2g.214978859C>ACA350459721ABCA12c.4922G>T (p.Gly1641Val)
c.3968G>T (p.Gly1323Val)
n.5222G>T
c.4931G>T (p.Gly1644Val)
n.5420G>T
 gnomAD v4
2g.214978859C=CA1327160328ABCA12c.4922G= (p.Gly1641=)
c.3968G= (p.Gly1323=)
n.5222G=
c.4931G= (p.Gly1644=)
n.5420G=
2g.214978859C>GCA350459714ABCA12c.4922G>C (p.Gly1641Ala)
c.3968G>C (p.Gly1323Ala)
n.5222G>C
c.4931G>C (p.Gly1644Ala)
n.5420G>C
2g.214978859C>TCA2091352ABCA12c.4922G>A (p.Gly1641Asp)
c.3968G>A (p.Gly1323Asp)
n.5222G>A
c.4931G>A (p.Gly1644Asp)
n.5420G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214978860C>ACA350459726ABCA12c.4921G>T (p.Gly1641Cys)
c.3967G>T (p.Gly1323Cys)
n.5221G>T
c.4930G>T (p.Gly1644Cys)
n.5419G>T
2g.214978860C>GCA350459727ABCA12c.4921G>C (p.Gly1641Arg)
c.3967G>C (p.Gly1323Arg)
n.5221G>C
c.4930G>C (p.Gly1644Arg)
n.5419G>C
2g.214978860C>TCA350459728ABCA12c.4921G>A (p.Gly1641Ser)
c.3967G>A (p.Gly1323Ser)
n.5221G>A
c.4930G>A (p.Gly1644Ser)
n.5419G>A
2g.214978861A>CCA350459731ABCA12c.4920T>G (p.Asn1640Lys)
c.3966T>G (p.Asn1322Lys)
n.5220T>G
c.4929T>G (p.Asn1643Lys)
n.5418T>G
2g.214978861A>GCA431147248ABCA12c.4920T>C (p.Asn1640=)
c.3966T>C (p.Asn1322=)
n.5220T>C
c.4929T>C (p.Asn1643=)
n.5418T>C
 ClinVar gnomAD v4
2g.214978861A>TCA350459732ABCA12c.4920T>A (p.Asn1640Lys)
c.3966T>A (p.Asn1322Lys)
n.5220T>A
c.4929T>A (p.Asn1643Lys)
n.5418T>A
2g.214978862T>ACA350459739ABCA12c.4919A>T (p.Asn1640Ile)
c.3965A>T (p.Asn1322Ile)
n.5219A>T
c.4928A>T (p.Asn1643Ile)
n.5417A>T
2g.214978862T>CCA350459740ABCA12c.4919A>G (p.Asn1640Ser)
c.3965A>G (p.Asn1322Ser)
n.5219A>G
c.4928A>G (p.Asn1643Ser)
n.5417A>G
 dbSNP gnomAD v4
2g.214978862T>GCA350459743ABCA12c.4919A>C (p.Asn1640Thr)
c.3965A>C (p.Asn1322Thr)
n.5219A>C
c.4928A>C (p.Asn1643Thr)
n.5417A>C
2g.214978862T=CA1327160329ABCA12c.4919A= (p.Asn1640=)
c.3965A= (p.Asn1322=)
n.5219A=
c.4928A= (p.Asn1643=)
n.5417A=
2g.214978863T>ACA350459745ABCA12c.4918A>T (p.Asn1640Tyr)
c.3964A>T (p.Asn1322Tyr)
n.5218A>T
c.4927A>T (p.Asn1643Tyr)
n.5416A>T
2g.214978863T>CCA350459747ABCA12c.4918A>G (p.Asn1640Asp)
c.3964A>G (p.Asn1322Asp)
n.5218A>G
c.4927A>G (p.Asn1643Asp)
n.5416A>G
2g.214978863T>GCA350459750ABCA12c.4918A>C (p.Asn1640His)
c.3964A>C (p.Asn1322His)
n.5218A>C
c.4927A>C (p.Asn1643His)
n.5416A>C
2g.214978864G>ACA431147260ABCA12c.4917C>T (p.Asp1639=)
c.3963C>T (p.Asp1321=)
n.5217C>T
c.4926C>T (p.Asp1642=)
n.5415C>T
2g.214978864G>CCA350459753ABCA12c.4917C>G (p.Asp1639Glu)
c.3963C>G (p.Asp1321Glu)
n.5217C>G
c.4926C>G (p.Asp1642Glu)
n.5415C>G
2g.214978864G>TCA350459759ABCA12c.4917C>A (p.Asp1639Glu)
c.3963C>A (p.Asp1321Glu)
n.5217C>A
c.4926C>A (p.Asp1642Glu)
n.5415C>A
2g.214978865T>ACA350459761ABCA12c.4916A>T (p.Asp1639Val)
c.3962A>T (p.Asp1321Val)
n.5216A>T
c.4925A>T (p.Asp1642Val)
n.5414A>T
2g.214978865T>CCA350459762ABCA12c.4916A>G (p.Asp1639Gly)
c.3962A>G (p.Asp1321Gly)
n.5216A>G
c.4925A>G (p.Asp1642Gly)
n.5414A>G
2g.214978865T>GCA350459763ABCA12c.4916A>C (p.Asp1639Ala)
c.3962A>C (p.Asp1321Ala)
n.5216A>C
c.4925A>C (p.Asp1642Ala)
n.5414A>C
2g.214978866C>ACA350459765ABCA12c.4915G>T (p.Asp1639Tyr)
c.3961G>T (p.Asp1321Tyr)
n.5215G>T
c.4924G>T (p.Asp1642Tyr)
n.5413G>T
2g.214978866C=CA1327160330ABCA12c.4915G= (p.Asp1639=)
c.3961G= (p.Asp1321=)
n.5215G=
c.4924G= (p.Asp1642=)
n.5413G=
2g.214978866C>GCA350459773ABCA12c.4915G>C (p.Asp1639His)
c.3961G>C (p.Asp1321His)
n.5215G>C
c.4924G>C (p.Asp1642His)
n.5413G>C
2g.214978866C>TCA10612784ABCA12c.4915G>A (p.Asp1639Asn)
c.3961G>A (p.Asp1321Asn)
n.5215G>A
c.4924G>A (p.Asp1642Asn)
n.5413G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.214978867G>ACA2091353ABCA12c.4914C>T (p.Leu1638=)
c.3960C>T (p.Leu1320=)
n.5214C>T
c.4923C>T (p.Leu1641=)
n.5412C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214978867G>CCA431147278ABCA12c.4914C>G (p.Leu1638=)
c.3960C>G (p.Leu1320=)
n.5214C>G
c.4923C>G (p.Leu1641=)
n.5412C>G
2g.214978867G=CA1327160331ABCA12c.4914C= (p.Leu1638=)
c.3960C= (p.Leu1320=)
n.5214C=
c.4923C= (p.Leu1641=)
n.5412C=
2g.214978867G>TCA431147280ABCA12c.4914C>A (p.Leu1638=)
c.3960C>A (p.Leu1320=)
n.5214C>A
c.4923C>A (p.Leu1641=)
n.5412C>A
 gnomAD v4
2g.214978868A>CCA350459776ABCA12c.4913T>G (p.Leu1638Arg)
c.3959T>G (p.Leu1320Arg)
n.5213T>G
c.4922T>G (p.Leu1641Arg)
n.5411T>G
2g.214978868A>GCA350459777ABCA12c.4913T>C (p.Leu1638Pro)
c.3959T>C (p.Leu1320Pro)
n.5213T>C
c.4922T>C (p.Leu1641Pro)
n.5411T>C
2g.214978868A>TCA350459778ABCA12c.4913T>A (p.Leu1638His)
c.3959T>A (p.Leu1320His)
n.5213T>A
c.4922T>A (p.Leu1641His)
n.5411T>A
2g.214978869G>ACA350459779ABCA12c.4912C>T (p.Leu1638Phe)
c.3958C>T (p.Leu1320Phe)
n.5212C>T
c.4921C>T (p.Leu1641Phe)
n.5410C>T
 dbSNP gnomAD v4
2g.214978869G>CCA350459780ABCA12c.4912C>G (p.Leu1638Val)
c.3958C>G (p.Leu1320Val)
n.5212C>G
c.4921C>G (p.Leu1641Val)
n.5410C>G
 gnomAD v4
2g.214978869G=CA1327160332ABCA12c.4912C= (p.Leu1638=)
c.3958C= (p.Leu1320=)
n.5212C=
c.4921C= (p.Leu1641=)
n.5410C=
2g.214978869G>TCA350459781ABCA12c.4912C>A (p.Leu1638Ile)
c.3958C>A (p.Leu1320Ile)
n.5212C>A
c.4921C>A (p.Leu1641Ile)
n.5410C>A
2g.214978870T>ACA431147286ABCA12c.4911A>T (p.Ala1637=)
c.3957A>T (p.Ala1319=)
n.5211A>T
c.4920A>T (p.Ala1640=)
n.5409A>T
2g.214978870T>CCA431147288ABCA12c.4911A>G (p.Ala1637=)
c.3957A>G (p.Ala1319=)
n.5211A>G
c.4920A>G (p.Ala1640=)
n.5409A>G
2g.214978870T>GCA431147289ABCA12c.4911A>C (p.Ala1637=)
c.3957A>C (p.Ala1319=)
n.5211A>C
c.4920A>C (p.Ala1640=)
n.5409A>C
2g.214978871G>ACA350459782ABCA12c.4910C>T (p.Ala1637Val)
c.3956C>T (p.Ala1319Val)
n.5210C>T
c.4919C>T (p.Ala1640Val)
n.5408C>T
 gnomAD v4
2g.214978871G>CCA350459783ABCA12c.4910C>G (p.Ala1637Gly)
c.3956C>G (p.Ala1319Gly)
n.5210C>G
c.4919C>G (p.Ala1640Gly)
n.5408C>G
2g.214978871G=CA1327160333ABCA12c.4910C= (p.Ala1637=)
c.3956C= (p.Ala1319=)
n.5210C=
c.4919C= (p.Ala1640=)
n.5408C=
2g.214978871G>TCA2091354ABCA12c.4910C>A (p.Ala1637Glu)
c.3956C>A (p.Ala1319Glu)
n.5210C>A
c.4919C>A (p.Ala1640Glu)
n.5408C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214978872C>ACA350459784ABCA12c.4909G>T (p.Ala1637Ser)
c.3955G>T (p.Ala1319Ser)
n.5209G>T
c.4918G>T (p.Ala1640Ser)
n.5407G>T
2g.214978872C=CA1327160334ABCA12c.4909G= (p.Ala1637=)
c.3955G= (p.Ala1319=)
n.5209G=
c.4918G= (p.Ala1640=)
n.5407G=
2g.214978872C>GCA350459785ABCA12c.4909G>C (p.Ala1637Pro)
c.3955G>C (p.Ala1319Pro)
n.5209G>C
c.4918G>C (p.Ala1640Pro)
n.5407G>C
2g.214978872C>TCA2091355ABCA12c.4909G>A (p.Ala1637Thr)
c.3955G>A (p.Ala1319Thr)
n.5209G>A
c.4918G>A (p.Ala1640Thr)
n.5407G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214978873C>ACA431147296ABCA12c.4908G>T (p.Arg1636=)
c.3954G>T (p.Arg1318=)
n.5208G>T
c.4917G>T (p.Arg1639=)
n.5406G>T
2g.214978873C>GCA431147300ABCA12c.4908G>C (p.Arg1636=)
c.3954G>C (p.Arg1318=)
n.5208G>C
c.4917G>C (p.Arg1639=)
n.5406G>C
2g.214978873C>TCA431147298ABCA12c.4908G>A (p.Arg1636=)
c.3954G>A (p.Arg1318=)
n.5208G>A
c.4917G>A (p.Arg1639=)
n.5406G>A
2g.214978874C>ACA350459786ABCA12c.4907G>T (p.Arg1636Leu)
c.3953G>T (p.Arg1318Leu)
n.5207G>T
c.4916G>T (p.Arg1639Leu)
n.5405G>T
2g.214978874C=CA1327160335ABCA12c.4907G= (p.Arg1636=)
c.3953G= (p.Arg1318=)
n.5207G=
c.4916G= (p.Arg1639=)
n.5405G=
2g.214978874C>GCA350459787ABCA12c.4907G>C (p.Arg1636Pro)
c.3953G>C (p.Arg1318Pro)
n.5207G>C
c.4916G>C (p.Arg1639Pro)
n.5405G>C
2g.214978874C>TCA2091356ABCA12c.4907G>A (p.Arg1636Gln)
c.3953G>A (p.Arg1318Gln)
n.5207G>A
c.4916G>A (p.Arg1639Gln)
n.5405G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.214978875G>ACA2091357ABCA12c.4906C>T (p.Arg1636Trp)
c.3952C>T (p.Arg1318Trp)
n.5206C>T
c.4915C>T (p.Arg1639Trp)
n.5404C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214978875G>CCA350459788ABCA12c.4906C>G (p.Arg1636Gly)
c.3952C>G (p.Arg1318Gly)
n.5206C>G
c.4915C>G (p.Arg1639Gly)
n.5404C>G
2g.214978875G=CA1327160336ABCA12c.4906C= (p.Arg1636=)
c.3952C= (p.Arg1318=)
n.5206C=
c.4915C= (p.Arg1639=)
n.5404C=
2g.214978875G>TCA431147305ABCA12c.4906C>A (p.Arg1636=)
c.3952C>A (p.Arg1318=)
n.5206C>A
c.4915C>A (p.Arg1639=)
n.5404C>A
2g.214978876T>ACA431147307ABCA12c.4905A>T (p.Leu1635=)
c.3951A>T (p.Leu1317=)
n.5205A>T
c.4914A>T (p.Leu1638=)
n.5403A>T
2g.214978876T>CCA64813641ABCA12c.4905A>G (p.Leu1635=)
c.3951A>G (p.Leu1317=)
n.5205A>G
c.4914A>G (p.Leu1638=)
n.5403A>G
 dbSNP
2g.214978876T>GCA431147309ABCA12c.4905A>C (p.Leu1635=)
c.3951A>C (p.Leu1317=)
n.5205A>C
c.4914A>C (p.Leu1638=)
n.5403A>C
2g.214978876T=CA1327160337ABCA12c.4905A= (p.Leu1635=)
c.3951A= (p.Leu1317=)
n.5205A=
c.4914A= (p.Leu1638=)
n.5403A=
2g.214978877A>CCA350459789ABCA12c.4904T>G (p.Leu1635Arg)
c.3950T>G (p.Leu1317Arg)
n.5204T>G
c.4913T>G (p.Leu1638Arg)
n.5402T>G
2g.214978877A>GCA350459790ABCA12c.4904T>C (p.Leu1635Pro)
c.3950T>C (p.Leu1317Pro)
n.5204T>C
c.4913T>C (p.Leu1638Pro)
n.5402T>C
2g.214978877A>TCA350459791ABCA12c.4904T>A (p.Leu1635Gln)
c.3950T>A (p.Leu1317Gln)
n.5204T>A
c.4913T>A (p.Leu1638Gln)
n.5402T>A
2g.214978878G>ACA431147315ABCA12c.4903C>T (p.Leu1635=)
c.3949C>T (p.Leu1317=)
n.5203C>T
c.4912C>T (p.Leu1638=)
n.5401C>T
 ClinVar
2g.214978878G>CCA350459800ABCA12c.4903C>G (p.Leu1635Val)
c.3949C>G (p.Leu1317Val)
n.5203C>G
c.4912C>G (p.Leu1638Val)
n.5401C>G
 ClinVar dbSNP
2g.214978878G=CA1327160338ABCA12c.4903C= (p.Leu1635=)
c.3949C= (p.Leu1317=)
n.5203C=
c.4912C= (p.Leu1638=)
n.5401C=
2g.214978878G>TCA350459802ABCA12c.4903C>A (p.Leu1635Ile)
c.3949C>A (p.Leu1317Ile)
n.5203C>A
c.4912C>A (p.Leu1638Ile)
n.5401C>A
2g.214978879G>ACA431147317ABCA12c.4902C>T (p.Leu1634=)
c.3948C>T (p.Leu1316=)
n.5202C>T
c.4911C>T (p.Leu1637=)
n.5400C>T
 dbSNP gnomAD v3 gnomAD v4
2g.214978879G>CCA431147319ABCA12c.4902C>G (p.Leu1634=)
c.3948C>G (p.Leu1316=)
n.5202C>G
c.4911C>G (p.Leu1637=)
n.5400C>G
2g.214978879G=CA1327160339ABCA12c.4902C= (p.Leu1634=)
c.3948C= (p.Leu1316=)
n.5202C=
c.4911C= (p.Leu1637=)
n.5400C=
2g.214978879G>TCA431147320ABCA12c.4902C>A (p.Leu1634=)
c.3948C>A (p.Leu1316=)
n.5202C>A
c.4911C>A (p.Leu1637=)
n.5400C>A
2g.214978880A=CA1327160340ABCA12c.4901T= (p.Leu1634=)
c.3947T= (p.Leu1316=)
n.5201T=
c.4910T= (p.Leu1637=)
n.5399T=
2g.214978880A>CCA350459805ABCA12c.4901T>G (p.Leu1634Arg)
c.3947T>G (p.Leu1316Arg)
n.5201T>G
c.4910T>G (p.Leu1637Arg)
n.5399T>G
2g.214978880A>GCA350459809ABCA12c.4901T>C (p.Leu1634Pro)
c.3947T>C (p.Leu1316Pro)
n.5201T>C
c.4910T>C (p.Leu1637Pro)
n.5399T>C
 dbSNP
2g.214978880A>TCA350459807ABCA12c.4901T>A (p.Leu1634His)
c.3947T>A (p.Leu1316His)
n.5201T>A
c.4910T>A (p.Leu1637His)
n.5399T>A
2g.214978881G>ACA350459812ABCA12c.4900C>T (p.Leu1634Phe)
c.3946C>T (p.Leu1316Phe)
n.5200C>T
c.4909C>T (p.Leu1637Phe)
n.5398C>T
2g.214978881G>CCA350459815ABCA12c.4900C>G (p.Leu1634Val)
c.3946C>G (p.Leu1316Val)
n.5200C>G
c.4909C>G (p.Leu1637Val)
n.5398C>G
2g.214978881G>TCA350459817ABCA12c.4900C>A (p.Leu1634Ile)
c.3946C>A (p.Leu1316Ile)
n.5200C>A
c.4909C>A (p.Leu1637Ile)
n.5398C>A
2g.214978881_214978896delinsGTGACAGGTAGGCCCCCA1327160341ABCA12c.4885_4900delinsGGGGCCTACCTGTCAC (p.Gly1629=)
c.3931_3946delinsGGGGCCTACCTGTCAC (p.Gly1311=)
n.5185_5200delinsGGGGCCTACCTGTCAC
c.4894_4909delinsGGGGCCTACCTGTCAC (p.Gly1632=)
n.5383_5398delinsGGGGCCTACCTGTCAC
2g.214978882T>ACA431147327ABCA12c.4899A>T (p.Ser1633=)
c.3945A>T (p.Ser1315=)
n.5199A>T
c.4908A>T (p.Ser1636=)
n.5397A>T
2g.214978882T>CCA431147328ABCA12c.4899A>G (p.Ser1633=)
c.3945A>G (p.Ser1315=)
n.5199A>G
c.4908A>G (p.Ser1636=)
n.5397A>G
2g.214978882T>GCA431147330ABCA12c.4899A>C (p.Ser1633=)
c.3945A>C (p.Ser1315=)
n.5199A>C
c.4908A>C (p.Ser1636=)
n.5397A>C
2g.214978885_214978899delCA1327160342ABCA12c.4885_4899del (p.Gly1629_Ser1633del)
c.3931_3945del (p.Gly1311_Ser1315del)
n.5185_5199del
c.4894_4908del (p.Gly1632_Ser1636del)
n.5383_5397del
 dbSNP
2g.214978883G>ACA64813643ABCA12c.4898C>T (p.Ser1633Leu)
c.3944C>T (p.Ser1315Leu)
n.5198C>T
c.4907C>T (p.Ser1636Leu)
n.5396C>T
 dbSNP gnomAD v4
2g.214978883G>CCA350459821ABCA12c.4898C>G (p.Ser1633Ter)
c.3944C>G (p.Ser1315Ter)
n.5198C>G
c.4907C>G (p.Ser1636Ter)
n.5396C>G
2g.214978883G=CA1327160343ABCA12c.4898C= (p.Ser1633=)
c.3944C= (p.Ser1315=)
n.5198C=
c.4907C= (p.Ser1636=)
n.5396C=
2g.214978883G>TCA350459823ABCA12c.4898C>A (p.Ser1633Ter)
c.3944C>A (p.Ser1315Ter)
n.5198C>A
c.4907C>A (p.Ser1636Ter)
n.5396C>A
2g.214978884A>CCA350459826ABCA12c.4897T>G (p.Ser1633Ala)
c.3943T>G (p.Ser1315Ala)
n.5197T>G
c.4906T>G (p.Ser1636Ala)
n.5395T>G
2g.214978884A>GCA350459828ABCA12c.4897T>C (p.Ser1633Pro)
c.3943T>C (p.Ser1315Pro)
n.5197T>C
c.4906T>C (p.Ser1636Pro)
n.5395T>C
2g.214978884A>TCA350459829ABCA12c.4897T>A (p.Ser1633Thr)
c.3943T>A (p.Ser1315Thr)
n.5197T>A
c.4906T>A (p.Ser1636Thr)
n.5395T>A
2g.214978885delCA2586971421ABCA12c.4896del (p.Ser1633HisfsTer?)
c.3942del (p.Ser1315HisfsTer?)
n.5196del
c.4905del (p.Ser1636HisfsTer?)
n.5394del
 gnomAD v4
2g.214978885C>ACA431147337ABCA12c.4896G>T (p.Leu1632=)
c.3942G>T (p.Leu1314=)
n.5196G>T
c.4905G>T (p.Leu1635=)
n.5394G>T
2g.214978885C>GCA431147339ABCA12c.4896G>C (p.Leu1632=)
c.3942G>C (p.Leu1314=)
n.5196G>C
c.4905G>C (p.Leu1635=)
n.5394G>C
2g.214978885C>TCA431147341ABCA12c.4896G>A (p.Leu1632=)
c.3942G>A (p.Leu1314=)
n.5196G>A
c.4905G>A (p.Leu1635=)
n.5394G>A
2g.214978886A>CCA350459831ABCA12c.4895T>G (p.Leu1632Arg)
c.3941T>G (p.Leu1314Arg)
n.5195T>G
c.4904T>G (p.Leu1635Arg)
n.5393T>G
2g.214978886A>GCA350459832ABCA12c.4895T>C (p.Leu1632Pro)
c.3941T>C (p.Leu1314Pro)
n.5195T>C
c.4904T>C (p.Leu1635Pro)
n.5393T>C
2g.214978886A>TCA350459834ABCA12c.4895T>A (p.Leu1632Gln)
c.3941T>A (p.Leu1314Gln)
n.5195T>A
c.4904T>A (p.Leu1635Gln)
n.5393T>A
2g.214978887G>ACA431147345ABCA12c.4894C>T (p.Leu1632=)
c.3940C>T (p.Leu1314=)
n.5194C>T
c.4903C>T (p.Leu1635=)
n.5392C>T
2g.214978887G>CCA350459837ABCA12c.4894C>G (p.Leu1632Val)
c.3940C>G (p.Leu1314Val)
n.5194C>G
c.4903C>G (p.Leu1635Val)
n.5392C>G
2g.214978887G>TCA350459839ABCA12c.4894C>A (p.Leu1632Met)
c.3940C>A (p.Leu1314Met)
n.5194C>A
c.4903C>A (p.Leu1635Met)
n.5392C>A
2g.214978888G>ACA2091358ABCA12c.4893C>T (p.Tyr1631=)
c.3939C>T (p.Tyr1313=)
n.5193C>T
c.4902C>T (p.Tyr1634=)
n.5391C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214978888G>CCA350459841ABCA12c.4893C>G (p.Tyr1631Ter)
c.3939C>G (p.Tyr1313Ter)
n.5193C>G
c.4902C>G (p.Tyr1634Ter)
n.5391C>G
2g.214978888G=CA1327160344ABCA12c.4893C= (p.Tyr1631=)
c.3939C= (p.Tyr1313=)
n.5193C=
c.4902C= (p.Tyr1634=)
n.5391C=
2g.214978888G>TCA350459842ABCA12c.4893C>A (p.Tyr1631Ter)
c.3939C>A (p.Tyr1313Ter)
n.5193C>A
c.4902C>A (p.Tyr1634Ter)
n.5391C>A
2g.214978889T>ACA350459845ABCA12c.4892A>T (p.Tyr1631Phe)
c.3938A>T (p.Tyr1313Phe)
n.5192A>T
c.4901A>T (p.Tyr1634Phe)
n.5390A>T
2g.214978889T>CCA2091359ABCA12c.4892A>G (p.Tyr1631Cys)
c.3938A>G (p.Tyr1313Cys)
n.5192A>G
c.4901A>G (p.Tyr1634Cys)
n.5390A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214978889T>GCA350459848ABCA12c.4892A>C (p.Tyr1631Ser)
c.3938A>C (p.Tyr1313Ser)
n.5192A>C
c.4901A>C (p.Tyr1634Ser)
n.5390A>C
 dbSNP
2g.214978889T=CA1327160345ABCA12c.4892A= (p.Tyr1631=)
c.3938A= (p.Tyr1313=)
n.5192A=
c.4901A= (p.Tyr1634=)
n.5390A=
2g.214978890A>CCA350459850ABCA12c.4891T>G (p.Tyr1631Asp)
c.3937T>G (p.Tyr1313Asp)
n.5191T>G
c.4900T>G (p.Tyr1634Asp)
n.5389T>G
2g.214978890A>GCA350459851ABCA12c.4891T>C (p.Tyr1631His)
c.3937T>C (p.Tyr1313His)
n.5191T>C
c.4900T>C (p.Tyr1634His)
n.5389T>C
2g.214978890A>TCA350459853ABCA12c.4891T>A (p.Tyr1631Asn)
c.3937T>A (p.Tyr1313Asn)
n.5191T>A
c.4900T>A (p.Tyr1634Asn)
n.5389T>A
2g.214978891G>ACA431147354ABCA12c.4890C>T (p.Ala1630=)
c.3936C>T (p.Ala1312=)
n.5190C>T
c.4899C>T (p.Ala1633=)
n.5388C>T
2g.214978891G>CCA431147356ABCA12c.4890C>G (p.Ala1630=)
c.3936C>G (p.Ala1312=)
n.5190C>G
c.4899C>G (p.Ala1633=)
n.5388C>G
 dbSNP gnomAD v3 gnomAD v4
2g.214978891G=CA1327160346ABCA12c.4890C= (p.Ala1630=)
c.3936C= (p.Ala1312=)
n.5190C=
c.4899C= (p.Ala1633=)
n.5388C=
2g.214978891G>TCA431147358ABCA12c.4890C>A (p.Ala1630=)
c.3936C>A (p.Ala1312=)
n.5190C>A
c.4899C>A (p.Ala1633=)
n.5388C>A
2g.214978892G>ACA64813655ABCA12c.4889C>T (p.Ala1630Val)
c.3935C>T (p.Ala1312Val)
n.5189C>T
c.4898C>T (p.Ala1633Val)
n.5387C>T
 dbSNP gnomAD v4
2g.214978892G>CCA350459859ABCA12c.4889C>G (p.Ala1630Gly)
c.3935C>G (p.Ala1312Gly)
n.5189C>G
c.4898C>G (p.Ala1633Gly)
n.5387C>G
2g.214978892G=CA1327160347ABCA12c.4889C= (p.Ala1630=)
c.3935C= (p.Ala1312=)
n.5189C=
c.4898C= (p.Ala1633=)
n.5387C=
2g.214978892G>TCA350459860ABCA12c.4889C>A (p.Ala1630Asp)
c.3935C>A (p.Ala1312Asp)
n.5189C>A
c.4898C>A (p.Ala1633Asp)
n.5387C>A
2g.214978893C>ACA350459862ABCA12c.4888G>T (p.Ala1630Ser)
c.3934G>T (p.Ala1312Ser)
n.5188G>T
c.4897G>T (p.Ala1633Ser)
n.5386G>T
2g.214978893C=CA1327160348ABCA12c.4888G= (p.Ala1630=)
c.3934G= (p.Ala1312=)
n.5188G=
c.4897G= (p.Ala1633=)
n.5386G=
2g.214978893C>GCA350459866ABCA12c.4888G>C (p.Ala1630Pro)
c.3934G>C (p.Ala1312Pro)
n.5188G>C
c.4897G>C (p.Ala1633Pro)
n.5386G>C
 dbSNP
2g.214978893C>TCA2091360ABCA12c.4888G>A (p.Ala1630Thr)
c.3934G>A (p.Ala1312Thr)
n.5188G>A
c.4897G>A (p.Ala1633Thr)
n.5386G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214978894C>ACA431147365ABCA12c.4887G>T (p.Gly1629=)
c.3933G>T (p.Gly1311=)
n.5187G>T
c.4896G>T (p.Gly1632=)
n.5385G>T
2g.214978894C>GCA431147366ABCA12c.4887G>C (p.Gly1629=)
c.3933G>C (p.Gly1311=)
n.5187G>C
c.4896G>C (p.Gly1632=)
n.5385G>C
 gnomAD v4
2g.214978894C>TCA431147368ABCA12c.4887G>A (p.Gly1629=)
c.3933G>A (p.Gly1311=)
n.5187G>A
c.4896G>A (p.Gly1632=)
n.5385G>A
2g.214978895C>ACA350459867ABCA12c.4886G>T (p.Gly1629Val)
c.3932G>T (p.Gly1311Val)
n.5186G>T
c.4895G>T (p.Gly1632Val)
n.5384G>T
2g.214978895C=CA1327160349ABCA12c.4886G= (p.Gly1629=)
c.3932G= (p.Gly1311=)
n.5186G=
c.4895G= (p.Gly1632=)
n.5384G=
2g.214978895C>GCA350459870ABCA12c.4886G>C (p.Gly1629Ala)
c.3932G>C (p.Gly1311Ala)
n.5186G>C
c.4895G>C (p.Gly1632Ala)
n.5384G>C
2g.214978895C>TCA2091361ABCA12c.4886G>A (p.Gly1629Glu)
c.3932G>A (p.Gly1311Glu)
n.5186G>A
c.4895G>A (p.Gly1632Glu)
n.5384G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.214978896C>ACA350459871ABCA12c.4885G>T (p.Gly1629Trp)
c.3931G>T (p.Gly1311Trp)
n.5185G>T
c.4894G>T (p.Gly1632Trp)
n.5383G>T
2g.214978896C>GCA350459874ABCA12c.4885G>C (p.Gly1629Arg)
c.3931G>C (p.Gly1311Arg)
n.5185G>C
c.4894G>C (p.Gly1632Arg)
n.5383G>C
2g.214978896C>TCA350459881ABCA12c.4885G>A (p.Gly1629Arg)
c.3931G>A (p.Gly1311Arg)
n.5185G>A
c.4894G>A (p.Gly1632Arg)
n.5383G>A
2g.214978896_214978897delCA2662978239ABCA12c.4884_4885del (p.Ala1630LeufsTer14)
c.3930_3931del (p.Ala1312LeufsTer14)
n.5184_5185del
c.4893_4894del (p.Ala1633LeufsTer14)
n.5382_5383del
 gnomAD v4
2g.214978897T>ACA431147375ABCA12c.4884A>T (p.Ser1628=)
c.3930A>T (p.Ser1310=)
n.5184A>T
c.4893A>T (p.Ser1631=)
n.5382A>T
2g.214978897T>CCA431147376ABCA12c.4884A>G (p.Ser1628=)
c.3930A>G (p.Ser1310=)
n.5184A>G
c.4893A>G (p.Ser1631=)
n.5382A>G
2g.214978897T>GCA431147378ABCA12c.4884A>C (p.Ser1628=)
c.3930A>C (p.Ser1310=)
n.5184A>C
c.4893A>C (p.Ser1631=)
n.5382A>C
2g.214978898G>ACA350459884ABCA12c.4883C>T (p.Ser1628Leu)
c.3929C>T (p.Ser1310Leu)
n.5183C>T
c.4892C>T (p.Ser1631Leu)
n.5381C>T
 dbSNP gnomAD v3 gnomAD v4
2g.214978898G>CCA350459886ABCA12c.4883C>G (p.Ser1628Ter)
c.3929C>G (p.Ser1310Ter)
n.5183C>G
c.4892C>G (p.Ser1631Ter)
n.5381C>G
2g.214978898G=CA1327160350ABCA12c.4883C= (p.Ser1628=)
c.3929C= (p.Ser1310=)
n.5183C=
c.4892C= (p.Ser1631=)
n.5381C=
2g.214978898G>TCA350459888ABCA12c.4883C>A (p.Ser1628Ter)
c.3929C>A (p.Ser1310Ter)
n.5183C>A
c.4892C>A (p.Ser1631Ter)
n.5381C>A
2g.214978899A=CA1327160351ABCA12c.4882T= (p.Ser1628=)
c.3928T= (p.Ser1310=)
n.5182T=
c.4891T= (p.Ser1631=)
n.5380T=
2g.214978899A>CCA350459890ABCA12c.4882T>G (p.Ser1628Ala)
c.3928T>G (p.Ser1310Ala)
n.5182T>G
c.4891T>G (p.Ser1631Ala)
n.5380T>G
 gnomAD v4
2g.214978899A>GCA350459892ABCA12c.4882T>C (p.Ser1628Pro)
c.3928T>C (p.Ser1310Pro)
n.5182T>C
c.4891T>C (p.Ser1631Pro)
n.5380T>C
 dbSNP gnomAD v3 gnomAD v4
2g.214978899A>TCA350459893ABCA12c.4882T>A (p.Ser1628Thr)
c.3928T>A (p.Ser1310Thr)
n.5182T>A
c.4891T>A (p.Ser1631Thr)
n.5380T>A
2g.214978900G>ACA431147384ABCA12c.4881C>T (p.Val1627=)
c.3927C>T (p.Val1309=)
n.5181C>T
c.4890C>T (p.Val1630=)
n.5379C>T
2g.214978900G>CCA431147385ABCA12c.4881C>G (p.Val1627=)
c.3927C>G (p.Val1309=)
n.5181C>G
c.4890C>G (p.Val1630=)
n.5379C>G
2g.214978900G>TCA431147387ABCA12c.4881C>A (p.Val1627=)
c.3927C>A (p.Val1309=)
n.5181C>A
c.4890C>A (p.Val1630=)
n.5379C>A
2g.214978901A=CA1327160352ABCA12c.4880T= (p.Val1627=)
c.3926T= (p.Val1309=)
n.5180T=
c.4889T= (p.Val1630=)
n.5378T=
2g.214978901A>CCA350459895ABCA12c.4880T>G (p.Val1627Gly)
c.3926T>G (p.Val1309Gly)
n.5180T>G
c.4889T>G (p.Val1630Gly)
n.5378T>G
 gnomAD v4
2g.214978901A>GCA350459894ABCA12c.4880T>C (p.Val1627Ala)
c.3926T>C (p.Val1309Ala)
n.5180T>C
c.4889T>C (p.Val1630Ala)
n.5378T>C
2g.214978901A>TCA64813682ABCA12c.4880T>A (p.Val1627Asp)
c.3926T>A (p.Val1309Asp)
n.5180T>A
c.4889T>A (p.Val1630Asp)
n.5378T>A
 dbSNP gnomAD v4
2g.214978902C>ACA350459896ABCA12c.4879G>T (p.Val1627Phe)
c.3925G>T (p.Val1309Phe)
n.5179G>T
c.4888G>T (p.Val1630Phe)
n.5377G>T
2g.214978902C>GCA350459897ABCA12c.4879G>C (p.Val1627Leu)
c.3925G>C (p.Val1309Leu)
n.5179G>C
c.4888G>C (p.Val1630Leu)
n.5377G>C
2g.214978902C>TCA350459898ABCA12c.4879G>A (p.Val1627Ile)
c.3925G>A (p.Val1309Ile)
n.5179G>A
c.4888G>A (p.Val1630Ile)
n.5377G>A
2g.214978903T>ACA350459899ABCA12c.4878A>T (p.Lys1626Asn)
c.3924A>T (p.Lys1308Asn)
n.5178A>T
c.4887A>T (p.Lys1629Asn)
n.5376A>T
2g.214978903T>CCA431147395ABCA12c.4878A>G (p.Lys1626=)
c.3924A>G (p.Lys1308=)
n.5178A>G
c.4887A>G (p.Lys1629=)
n.5376A>G
2g.214978903T>GCA350459900ABCA12c.4878A>C (p.Lys1626Asn)
c.3924A>C (p.Lys1308Asn)
n.5178A>C
c.4887A>C (p.Lys1629Asn)
n.5376A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.214978903T=CA1327160353ABCA12c.4878A= (p.Lys1626=)
c.3924A= (p.Lys1308=)
n.5178A=
c.4887A= (p.Lys1629=)
n.5376A=
2g.214978904T>ACA350459901ABCA12c.4877A>T (p.Lys1626Ile)
c.3923A>T (p.Lys1308Ile)
n.5177A>T
c.4886A>T (p.Lys1629Ile)
n.5375A>T
2g.214978904T>CCA2091362ABCA12c.4877A>G (p.Lys1626Arg)
c.3923A>G (p.Lys1308Arg)
n.5177A>G
c.4886A>G (p.Lys1629Arg)
n.5375A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214978904T>GCA350459902ABCA12c.4877A>C (p.Lys1626Thr)
c.3923A>C (p.Lys1308Thr)
n.5177A>C
c.4886A>C (p.Lys1629Thr)
n.5375A>C
2g.214978904T=CA1327160354ABCA12c.4877A= (p.Lys1626=)
c.3923A= (p.Lys1308=)
n.5177A=
c.4886A= (p.Lys1629=)
n.5375A=
2g.214978905T>ACA350459903ABCA12c.4876A>T (p.Lys1626Ter)
c.3922A>T (p.Lys1308Ter)
n.5176A>T
c.4885A>T (p.Lys1629Ter)
n.5374A>T
2g.214978905T>CCA350459904ABCA12c.4876A>G (p.Lys1626Glu)
c.3922A>G (p.Lys1308Glu)
n.5176A>G
c.4885A>G (p.Lys1629Glu)
n.5374A>G
 gnomAD v4
2g.214978905T>GCA350459905ABCA12c.4876A>C (p.Lys1626Gln)
c.3922A>C (p.Lys1308Gln)
n.5176A>C
c.4885A>C (p.Lys1629Gln)
n.5374A>C
 dbSNP gnomAD v2 gnomAD v4
2g.214978905T=CA1327160355ABCA12c.4876A= (p.Lys1626=)
c.3922A= (p.Lys1308=)
n.5176A=
c.4885A= (p.Lys1629=)
n.5374A=
2g.214978906G>ACA431147401ABCA12c.4875C>T (p.Thr1625=)
c.3921C>T (p.Thr1307=)
n.5175C>T
c.4884C>T (p.Thr1628=)
n.5373C>T
2g.214978906G>CCA2091363ABCA12c.4875C>G (p.Thr1625=)
c.3921C>G (p.Thr1307=)
n.5175C>G
c.4884C>G (p.Thr1628=)
n.5373C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.214978906G=CA1327160356ABCA12c.4875C= (p.Thr1625=)
c.3921C= (p.Thr1307=)
n.5175C=
c.4884C= (p.Thr1628=)
n.5373C=
2g.214978906G>TCA431147404ABCA12c.4875C>A (p.Thr1625=)
c.3921C>A (p.Thr1307=)
n.5175C>A
c.4884C>A (p.Thr1628=)
n.5373C>A
2g.214978907G>ACA350459908ABCA12c.4874C>T (p.Thr1625Ile)
c.3920C>T (p.Thr1307Ile)
n.5174C>T
c.4883C>T (p.Thr1628Ile)
n.5372C>T
 gnomAD v4
2g.214978907G>CCA350459907ABCA12c.4874C>G (p.Thr1625Ser)
c.3920C>G (p.Thr1307Ser)
n.5174C>G
c.4883C>G (p.Thr1628Ser)
n.5372C>G
 gnomAD v4
2g.214978907G>TCA350459906ABCA12c.4874C>A (p.Thr1625Asn)
c.3920C>A (p.Thr1307Asn)
n.5174C>A
c.4883C>A (p.Thr1628Asn)
n.5372C>A
2g.214978908T>ACA350459909ABCA12c.4873A>T (p.Thr1625Ser)
c.3919A>T (p.Thr1307Ser)
n.5173A>T
c.4882A>T (p.Thr1628Ser)
n.5371A>T
2g.214978908T>CCA2091364ABCA12c.4873A>G (p.Thr1625Ala)
c.3919A>G (p.Thr1307Ala)
n.5173A>G
c.4882A>G (p.Thr1628Ala)
n.5371A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214978908T>GCA350459910ABCA12c.4873A>C (p.Thr1625Pro)
c.3919A>C (p.Thr1307Pro)
n.5173A>C
c.4882A>C (p.Thr1628Pro)
n.5371A>C
2g.214978908T=CA1327160357ABCA12c.4873A= (p.Thr1625=)
c.3919A= (p.Thr1307=)
n.5173A=
c.4882A= (p.Thr1628=)
n.5371A=
2g.214978909G>ACA431147412ABCA12c.4872C>T (p.Ser1624=)
c.3918C>T (p.Ser1306=)
n.5172C>T
c.4881C>T (p.Ser1627=)
n.5370C>T
 gnomAD v4
2g.214978909G>CCA350459911ABCA12c.4872C>G (p.Ser1624Arg)
c.3918C>G (p.Ser1306Arg)
n.5172C>G
c.4881C>G (p.Ser1627Arg)
n.5370C>G
2g.214978909G>TCA350459912ABCA12c.4872C>A (p.Ser1624Arg)
c.3918C>A (p.Ser1306Arg)
n.5172C>A
c.4881C>A (p.Ser1627Arg)
n.5370C>A
2g.214978910C>ACA350459913ABCA12c.4871G>T (p.Ser1624Ile)
c.3917G>T (p.Ser1306Ile)
n.5171G>T
c.4880G>T (p.Ser1627Ile)
n.5369G>T
2g.214978910C=CA1327160358ABCA12c.4871G= (p.Ser1624=)
c.3917G= (p.Ser1306=)
n.5171G=
c.4880G= (p.Ser1627=)
n.5369G=
2g.214978910C>GCA64813692ABCA12c.4871G>C (p.Ser1624Thr)
c.3917G>C (p.Ser1306Thr)
n.5171G>C
c.4880G>C (p.Ser1627Thr)
n.5369G>C
 dbSNP gnomAD v3 gnomAD v4
2g.214978910C>TCA350459914ABCA12c.4871G>A (p.Ser1624Asn)
c.3917G>A (p.Ser1306Asn)
n.5171G>A
c.4880G>A (p.Ser1627Asn)
n.5369G>A
2g.214978911T>ACA350459915ABCA12c.4870A>T (p.Ser1624Cys)
c.3916A>T (p.Ser1306Cys)
n.5170A>T
c.4879A>T (p.Ser1627Cys)
n.5368A>T
2g.214978911T>CCA350459916ABCA12c.4870A>G (p.Ser1624Gly)
c.3916A>G (p.Ser1306Gly)
n.5170A>G
c.4879A>G (p.Ser1627Gly)
n.5368A>G
 dbSNP gnomAD v2 gnomAD v4
2g.214978911T>GCA350459917ABCA12c.4870A>C (p.Ser1624Arg)
c.3916A>C (p.Ser1306Arg)
n.5170A>C
c.4879A>C (p.Ser1627Arg)
n.5368A>C
2g.214978911T=CA1327160359ABCA12c.4870A= (p.Ser1624=)
c.3916A= (p.Ser1306=)
n.5170A=
c.4879A= (p.Ser1627=)
n.5368A=
2g.214978912G>ACA431147420ABCA12c.4869C>T (p.Phe1623=)
c.3915C>T (p.Phe1305=)
n.5169C>T
c.4878C>T (p.Phe1626=)
n.5367C>T
 ClinVar gnomAD v4
2g.214978912G>CCA350459918ABCA12c.4869C>G (p.Phe1623Leu)
c.3915C>G (p.Phe1305Leu)
n.5169C>G
c.4878C>G (p.Phe1626Leu)
n.5367C>G
2g.214978912G>TCA350459919ABCA12c.4869C>A (p.Phe1623Leu)
c.3915C>A (p.Phe1305Leu)
n.5169C>A
c.4878C>A (p.Phe1626Leu)
n.5367C>A
2g.214978913A>CCA350459920ABCA12c.4868T>G (p.Phe1623Cys)
c.3914T>G (p.Phe1305Cys)
n.5168T>G
c.4877T>G (p.Phe1626Cys)
n.5366T>G
2g.214978913A>GCA350459921ABCA12c.4868T>C (p.Phe1623Ser)
c.3914T>C (p.Phe1305Ser)
n.5168T>C
c.4877T>C (p.Phe1626Ser)
n.5366T>C
2g.214978913A>TCA350459922ABCA12c.4868T>A (p.Phe1623Tyr)
c.3914T>A (p.Phe1305Tyr)
n.5168T>A
c.4877T>A (p.Phe1626Tyr)
n.5366T>A
2g.214978914A>CCA350459925ABCA12c.4867T>G (p.Phe1623Val)
c.3913T>G (p.Phe1305Val)
n.5167T>G
c.4876T>G (p.Phe1626Val)
n.5365T>G
2g.214978914A>GCA350459924ABCA12c.4867T>C (p.Phe1623Leu)
c.3913T>C (p.Phe1305Leu)
n.5167T>C
c.4876T>C (p.Phe1626Leu)
n.5365T>C
 gnomAD v4 COSMIC
2g.214978914A>TCA350459923ABCA12c.4867T>A (p.Phe1623Ile)
c.3913T>A (p.Phe1305Ile)
n.5167T>A
c.4876T>A (p.Phe1626Ile)
n.5365T>A
2g.214978915T>ACA431147429ABCA12c.4866A>T (p.Pro1622=)
c.3912A>T (p.Pro1304=)
n.5166A>T
c.4875A>T (p.Pro1625=)
n.5364A>T
 gnomAD v4
2g.214978915T>CCA431147432ABCA12c.4866A>G (p.Pro1622=)
c.3912A>G (p.Pro1304=)
n.5166A>G
c.4875A>G (p.Pro1625=)
n.5364A>G
 ClinVar dbSNP
2g.214978915T>GCA431147435ABCA12c.4866A>C (p.Pro1622=)
c.3912A>C (p.Pro1304=)
n.5166A>C
c.4875A>C (p.Pro1625=)
n.5364A>C
2g.214978915T=CA1327160360ABCA12c.4866A= (p.Pro1622=)
c.3912A= (p.Pro1304=)
n.5166A=
c.4875A= (p.Pro1625=)
n.5364A=
2g.214978916G>ACA350459926ABCA12c.4865C>T (p.Pro1622Leu)
c.3911C>T (p.Pro1304Leu)
n.5165C>T
c.4874C>T (p.Pro1625Leu)
n.5363C>T
2g.214978916G>CCA350459928ABCA12c.4865C>G (p.Pro1622Arg)
c.3911C>G (p.Pro1304Arg)
n.5165C>G
c.4874C>G (p.Pro1625Arg)
n.5363C>G
2g.214978916G>TCA350459929ABCA12c.4865C>A (p.Pro1622Gln)
c.3911C>A (p.Pro1304Gln)
n.5165C>A
c.4874C>A (p.Pro1625Gln)
n.5363C>A
2g.214978917dupCA64813700ABCA12c.4865dup (p.Phe1623IlefsTer22)
c.3911dup (p.Phe1305IlefsTer22)
n.5165dup
c.4874dup (p.Phe1626IlefsTer22)
n.5363dup
 dbSNP
2g.214978917G>ACA350459930ABCA12c.4864C>T (p.Pro1622Ser)
c.3910C>T (p.Pro1304Ser)
n.5164C>T
c.4873C>T (p.Pro1625Ser)
n.5362C>T
2g.214978917G>CCA350459932ABCA12c.4864C>G (p.Pro1622Ala)
c.3910C>G (p.Pro1304Ala)
n.5164C>G
c.4873C>G (p.Pro1625Ala)
n.5362C>G
2g.214978917G>TCA350459935ABCA12c.4864C>A (p.Pro1622Thr)
c.3910C>A (p.Pro1304Thr)
n.5164C>A
c.4873C>A (p.Pro1625Thr)
n.5362C>A
2g.214978918A=CA1327160361ABCA12c.4863T= (p.Pro1621=)
c.3909T= (p.Pro1303=)
n.5163T=
c.4872T= (p.Pro1624=)
n.5361T=
2g.214978918A>CCA431147442ABCA12c.4863T>G (p.Pro1621=)
c.3909T>G (p.Pro1303=)
n.5163T>G
c.4872T>G (p.Pro1624=)
n.5361T>G
2g.214978918A>GCA431147444ABCA12c.4863T>C (p.Pro1621=)
c.3909T>C (p.Pro1303=)
n.5163T>C
c.4872T>C (p.Pro1624=)
n.5361T>C
 dbSNP gnomAD v2 gnomAD v4
2g.214978918A>TCA431147445ABCA12c.4863T>A (p.Pro1621=)
c.3909T>A (p.Pro1303=)
n.5163T>A
c.4872T>A (p.Pro1624=)
n.5361T>A
2g.214978919G>ACA350459936ABCA12c.4862C>T (p.Pro1621Leu)
c.3908C>T (p.Pro1303Leu)
n.5162C>T
c.4871C>T (p.Pro1624Leu)
n.5360C>T
2g.214978919G>CCA350459937ABCA12c.4862C>G (p.Pro1621Arg)
c.3908C>G (p.Pro1303Arg)
n.5162C>G
c.4871C>G (p.Pro1624Arg)
n.5360C>G
2g.214978919G>TCA350459939ABCA12c.4862C>A (p.Pro1621His)
c.3908C>A (p.Pro1303His)
n.5162C>A
c.4871C>A (p.Pro1624His)
n.5360C>A
2g.214978920G>ACA350459941ABCA12c.4861C>T (p.Pro1621Ser)
c.3907C>T (p.Pro1303Ser)
n.5161C>T
c.4870C>T (p.Pro1624Ser)
n.5359C>T
2g.214978920G>CCA350459942ABCA12c.4861C>G (p.Pro1621Ala)
c.3907C>G (p.Pro1303Ala)
n.5161C>G
c.4870C>G (p.Pro1624Ala)
n.5359C>G
2g.214978920G>TCA350459945ABCA12c.4861C>A (p.Pro1621Thr)
c.3907C>A (p.Pro1303Thr)
n.5161C>A
c.4870C>A (p.Pro1624Thr)
n.5359C>A
2g.214978921A>CCA431147452ABCA12c.4860T>G (p.Leu1620=)
c.3906T>G (p.Leu1302=)
n.5160T>G
c.4869T>G (p.Leu1623=)
n.5358T>G
2g.214978921A>GCA431147453ABCA12c.4860T>C (p.Leu1620=)
c.3906T>C (p.Leu1302=)
n.5160T>C
c.4869T>C (p.Leu1623=)
n.5358T>C
2g.214978921A>TCA431147454ABCA12c.4860T>A (p.Leu1620=)
c.3906T>A (p.Leu1302=)
n.5160T>A
c.4869T>A (p.Leu1623=)
n.5358T>A
2g.214978922A>CCA350459949ABCA12c.4859T>G (p.Leu1620Arg)
c.3905T>G (p.Leu1302Arg)
n.5159T>G
c.4868T>G (p.Leu1623Arg)
n.5357T>G
2g.214978922A>GCA350459952ABCA12c.4859T>C (p.Leu1620Pro)
c.3905T>C (p.Leu1302Pro)
n.5159T>C
c.4868T>C (p.Leu1623Pro)
n.5357T>C
2g.214978922A>TCA350459947ABCA12c.4859T>A (p.Leu1620His)
c.3905T>A (p.Leu1302His)
n.5159T>A
c.4868T>A (p.Leu1623His)
n.5357T>A
2g.214978923G>ACA350459954ABCA12c.4858C>T (p.Leu1620Phe)
c.3904C>T (p.Leu1302Phe)
n.5158C>T
c.4867C>T (p.Leu1623Phe)
n.5356C>T
 dbSNP gnomAD v3 gnomAD v4
2g.214978923G>CCA350459956ABCA12c.4858C>G (p.Leu1620Val)
c.3904C>G (p.Leu1302Val)
n.5158C>G
c.4867C>G (p.Leu1623Val)
n.5356C>G
2g.214978923G=CA1327160362ABCA12c.4858C= (p.Leu1620=)
c.3904C= (p.Leu1302=)
n.5158C=
c.4867C= (p.Leu1623=)
n.5356C=
2g.214978923G>TCA350459957ABCA12c.4858C>A (p.Leu1620Ile)
c.3904C>A (p.Leu1302Ile)
n.5158C>A
c.4867C>A (p.Leu1623Ile)
n.5356C>A
2g.214978924T>ACA431147462ABCA12c.4857A>T (p.Val1619=)
c.3903A>T (p.Val1301=)
n.5157A>T
c.4866A>T (p.Val1622=)
n.5355A>T
2g.214978924T>CCA431147460ABCA12c.4857A>G (p.Val1619=)
c.3903A>G (p.Val1301=)
n.5157A>G
c.4866A>G (p.Val1622=)
n.5355A>G
 ClinVar dbSNP
2g.214978924T>GCA431147459ABCA12c.4857A>C (p.Val1619=)
c.3903A>C (p.Val1301=)
n.5157A>C
c.4866A>C (p.Val1622=)
n.5355A>C
 dbSNP
2g.214978924T=CA1327160363ABCA12c.4857A= (p.Val1619=)
c.3903A= (p.Val1301=)
n.5157A=
c.4866A= (p.Val1622=)
n.5355A=
2g.214978925A>CCA350459961ABCA12c.4856T>G (p.Val1619Gly)
c.3902T>G (p.Val1301Gly)
n.5156T>G
c.4865T>G (p.Val1622Gly)
n.5354T>G
2g.214978925A>GCA350459963ABCA12c.4856T>C (p.Val1619Ala)
c.3902T>C (p.Val1301Ala)
n.5156T>C
c.4865T>C (p.Val1622Ala)
n.5354T>C
2g.214978925A>TCA350459965ABCA12c.4856T>A (p.Val1619Glu)
c.3902T>A (p.Val1301Glu)
n.5156T>A
c.4865T>A (p.Val1622Glu)
n.5354T>A
2g.214978926C>ACA350459969ABCA12c.4855G>T (p.Val1619Leu)
c.3901G>T (p.Val1301Leu)
n.5155G>T
c.4864G>T (p.Val1622Leu)
n.5353G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.214978926C=CA1327160364ABCA12c.4855G= (p.Val1619=)
c.3901G= (p.Val1301=)
n.5155G=
c.4864G= (p.Val1622=)
n.5353G=
2g.214978926C>GCA350459971ABCA12c.4855G>C (p.Val1619Leu)
c.3901G>C (p.Val1301Leu)
n.5155G>C
c.4864G>C (p.Val1622Leu)
n.5353G>C
2g.214978926C>TCA350459973ABCA12c.4855G>A (p.Val1619Ile)
c.3901G>A (p.Val1301Ile)
n.5155G>A
c.4864G>A (p.Val1622Ile)
n.5353G>A
 dbSNP gnomAD v3 gnomAD v4
2g.214978927A=CA1327160365ABCA12c.4854T= (p.Tyr1618=)
c.3900T= (p.Tyr1300=)
n.5154T=
c.4863T= (p.Tyr1621=)
n.5352T=
2g.214978927A>CCA350459976ABCA12c.4854T>G (p.Tyr1618Ter)
c.3900T>G (p.Tyr1300Ter)
n.5154T>G
c.4863T>G (p.Tyr1621Ter)
n.5352T>G
2g.214978927A>GCA431147471ABCA12c.4854T>C (p.Tyr1618=)
c.3900T>C (p.Tyr1300=)
n.5154T>C
c.4863T>C (p.Tyr1621=)
n.5352T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.214978927A>TCA350459978ABCA12c.4854T>A (p.Tyr1618Ter)
c.3900T>A (p.Tyr1300Ter)
n.5154T>A
c.4863T>A (p.Tyr1621Ter)
n.5352T>A
2g.214978928T>ACA350459984ABCA12c.4853A>T (p.Tyr1618Phe)
c.3899A>T (p.Tyr1300Phe)
n.5153A>T
c.4862A>T (p.Tyr1621Phe)
n.5351A>T
2g.214978928T>CCA350459982ABCA12c.4853A>G (p.Tyr1618Cys)
c.3899A>G (p.Tyr1300Cys)
n.5153A>G
c.4862A>G (p.Tyr1621Cys)
n.5351A>G
2g.214978928T>GCA350459980ABCA12c.4853A>C (p.Tyr1618Ser)
c.3899A>C (p.Tyr1300Ser)
n.5153A>C
c.4862A>C (p.Tyr1621Ser)
n.5351A>C
2g.214978929A=CA1327160366ABCA12c.4852T= (p.Tyr1618=)
c.3898T= (p.Tyr1300=)
n.5152T=
c.4861T= (p.Tyr1621=)
n.5350T=
2g.214978929A>CCA350459985ABCA12c.4852T>G (p.Tyr1618Asp)
c.3898T>G (p.Tyr1300Asp)
n.5152T>G
c.4861T>G (p.Tyr1621Asp)
n.5350T>G
2g.214978929A>GCA2091365ABCA12c.4852T>C (p.Tyr1618His)
c.3898T>C (p.Tyr1300His)
n.5152T>C
c.4861T>C (p.Tyr1621His)
n.5350T>C
 dbSNP ExAC gnomAD v4
2g.214978929A>TCA350459989ABCA12c.4852T>A (p.Tyr1618Asn)
c.3898T>A (p.Tyr1300Asn)
n.5152T>A
c.4861T>A (p.Tyr1621Asn)
n.5350T>A
2g.214978930A>CCA431147477ABCA12c.4851T>G (p.Val1617=)
c.3897T>G (p.Val1299=)
n.5151T>G
c.4860T>G (p.Val1620=)
n.5349T>G
2g.214978930A>GCA431147481ABCA12c.4851T>C (p.Val1617=)
c.3897T>C (p.Val1299=)
n.5151T>C
c.4860T>C (p.Val1620=)
n.5349T>C
2g.214978930A>TCA431147479ABCA12c.4851T>A (p.Val1617=)
c.3897T>A (p.Val1299=)
n.5151T>A
c.4860T>A (p.Val1620=)
n.5349T>A
2g.214978931A>CCA350459992ABCA12c.4850T>G (p.Val1617Gly)
c.3896T>G (p.Val1299Gly)
n.5150T>G
c.4859T>G (p.Val1620Gly)
n.5348T>G
2g.214978931A>GCA350459994ABCA12c.4850T>C (p.Val1617Ala)
c.3896T>C (p.Val1299Ala)
n.5150T>C
c.4859T>C (p.Val1620Ala)
n.5348T>C
2g.214978931A>TCA350459996ABCA12c.4850T>A (p.Val1617Asp)
c.3896T>A (p.Val1299Asp)
n.5150T>A
c.4859T>A (p.Val1620Asp)
n.5348T>A
2g.214978932C>ACA350459998ABCA12c.4849G>T (p.Val1617Phe)
c.3895G>T (p.Val1299Phe)
n.5149G>T
c.4858G>T (p.Val1620Phe)
n.5347G>T
2g.214978932C=CA1327160367ABCA12c.4849G= (p.Val1617=)
c.3895G= (p.Val1299=)
n.5149G=
c.4858G= (p.Val1620=)
n.5347G=
2g.214978932C>GCA64813734ABCA12c.4849G>C (p.Val1617Leu)
c.3895G>C (p.Val1299Leu)
n.5149G>C
c.4858G>C (p.Val1620Leu)
n.5347G>C
 dbSNP
2g.214978932C>TCA350460002ABCA12c.4849G>A (p.Val1617Ile)
c.3895G>A (p.Val1299Ile)
n.5149G>A
c.4858G>A (p.Val1620Ile)
n.5347G>A
2g.214978933A>CCA431147488ABCA12c.4848T>G (p.Leu1616=)
c.3894T>G (p.Leu1298=)
n.5148T>G
c.4857T>G (p.Leu1619=)
n.5346T>G
2g.214978933A>GCA431147489ABCA12c.4848T>C (p.Leu1616=)
c.3894T>C (p.Leu1298=)
n.5148T>C
c.4857T>C (p.Leu1619=)
n.5346T>C
2g.214978933A>TCA431147491ABCA12c.4848T>A (p.Leu1616=)
c.3894T>A (p.Leu1298=)
n.5148T>A
c.4857T>A (p.Leu1619=)
n.5346T>A
2g.214978934dupCA2586971422ABCA12c.4848dup (p.Val1617CysfsTer28)
c.3894dup (p.Val1299CysfsTer28)
n.5148dup
c.4857dup (p.Val1620CysfsTer28)
n.5346dup
2g.214978934A>CCA350460005ABCA12c.4847T>G (p.Leu1616Arg)
c.3893T>G (p.Leu1298Arg)
n.5147T>G
c.4856T>G (p.Leu1619Arg)
n.5345T>G
2g.214978934A>GCA350460007ABCA12c.4847T>C (p.Leu1616Pro)
c.3893T>C (p.Leu1298Pro)
n.5147T>C
c.4856T>C (p.Leu1619Pro)
n.5345T>C
2g.214978934A>TCA350460009ABCA12c.4847T>A (p.Leu1616His)
c.3893T>A (p.Leu1298His)
n.5147T>A
c.4856T>A (p.Leu1619His)
n.5345T>A
 gnomAD v4
2g.214978935G>ACA350460013ABCA12c.4846C>T (p.Leu1616Phe)
c.3892C>T (p.Leu1298Phe)
n.5146C>T
c.4855C>T (p.Leu1619Phe)
n.5344C>T
2g.214978935G>CCA350460015ABCA12c.4846C>G (p.Leu1616Val)
c.3892C>G (p.Leu1298Val)
n.5146C>G
c.4855C>G (p.Leu1619Val)
n.5344C>G
2g.214978935G=CA1327160368ABCA12c.4846C= (p.Leu1616=)
c.3892C= (p.Leu1298=)
n.5146C=
c.4855C= (p.Leu1619=)
n.5344C=
2g.214978935G>TCA350460011ABCA12c.4846C>A (p.Leu1616Ile)
c.3892C>A (p.Leu1298Ile)
n.5146C>A
c.4855C>A (p.Leu1619Ile)
n.5344C>A
 dbSNP
2g.214978936C>ACA350460019ABCA12c.4845G>T (p.Glu1615Asp)
c.3891G>T (p.Glu1297Asp)
n.5145G>T
c.4854G>T (p.Glu1618Asp)
n.5343G>T
 COSMIC
2g.214978936C=CA1327160369ABCA12c.4845G= (p.Glu1615=)
c.3891G= (p.Glu1297=)
n.5145G=
c.4854G= (p.Glu1618=)
n.5343G=
2g.214978936C>GCA350460021ABCA12c.4845G>C (p.Glu1615Asp)
c.3891G>C (p.Glu1297Asp)
n.5145G>C
c.4854G>C (p.Glu1618Asp)
n.5343G>C
2g.214978936C>TCA2091366ABCA12c.4845G>A (p.Glu1615=)
c.3891G>A (p.Glu1297=)
n.5145G>A
c.4854G>A (p.Glu1618=)
n.5343G>A
 ClinVar dbSNP ExAC gnomAD v2
2g.214978937T>ACA350460023ABCA12c.4844A>T (p.Glu1615Val)
c.3890A>T (p.Glu1297Val)
n.5144A>T
c.4853A>T (p.Glu1618Val)
n.5342A>T
2g.214978937T>CCA350460024ABCA12c.4844A>G (p.Glu1615Gly)
c.3890A>G (p.Glu1297Gly)
n.5144A>G
c.4853A>G (p.Glu1618Gly)
n.5342A>G
2g.214978937T>GCA350460026ABCA12c.4844A>C (p.Glu1615Ala)
c.3890A>C (p.Glu1297Ala)
n.5144A>C
c.4853A>C (p.Glu1618Ala)
n.5342A>C
2g.214978938C>ACA350460032ABCA12c.4843G>T (p.Glu1615Ter)
c.3889G>T (p.Glu1297Ter)
n.5143G>T
c.4852G>T (p.Glu1618Ter)
n.5341G>T
2g.214978938C>GCA350460028ABCA12c.4843G>C (p.Glu1615Gln)
c.3889G>C (p.Glu1297Gln)
n.5143G>C
c.4852G>C (p.Glu1618Gln)
n.5341G>C
2g.214978938C>TCA350460030ABCA12c.4843G>A (p.Glu1615Lys)
c.3889G>A (p.Glu1297Lys)
n.5143G>A
c.4852G>A (p.Glu1618Lys)
n.5341G>A
2g.214978939delCA2662978240ABCA12c.4842del (p.Glu1615SerfsTer?)
c.3888del (p.Glu1297SerfsTer?)
n.5142del
c.4851del (p.Glu1618SerfsTer?)
n.5340del
 gnomAD v4
2g.214978939T>ACA431147503ABCA12c.4842A>T (p.Gly1614=)
c.3888A>T (p.Gly1296=)
n.5142A>T
c.4851A>T (p.Gly1617=)
n.5340A>T
2g.214978939T>CCA431147504ABCA12c.4842A>G (p.Gly1614=)
c.3888A>G (p.Gly1296=)
n.5142A>G
c.4851A>G (p.Gly1617=)
n.5340A>G
 dbSNP gnomAD v2
2g.214978939T>GCA431147506ABCA12c.4842A>C (p.Gly1614=)
c.3888A>C (p.Gly1296=)
n.5142A>C
c.4851A>C (p.Gly1617=)
n.5340A>C
2g.214978939T=CA1327160370ABCA12c.4842A= (p.Gly1614=)
c.3888A= (p.Gly1296=)
n.5142A=
c.4851A= (p.Gly1617=)
n.5340A=
2g.214978940C>ACA350460035ABCA12c.4841G>T (p.Gly1614Val)
c.3887G>T (p.Gly1296Val)
n.5141G>T
c.4850G>T (p.Gly1617Val)
n.5339G>T
 dbSNP
2g.214978940C=CA1327160371ABCA12c.4841G= (p.Gly1614=)
c.3887G= (p.Gly1296=)
n.5141G=
c.4850G= (p.Gly1617=)
n.5339G=
2g.214978940C>GCA350460036ABCA12c.4841G>C (p.Gly1614Ala)
c.3887G>C (p.Gly1296Ala)
n.5141G>C
c.4850G>C (p.Gly1617Ala)
n.5339G>C
2g.214978940C>TCA350460039ABCA12c.4841G>A (p.Gly1614Glu)
c.3887G>A (p.Gly1296Glu)
n.5141G>A
c.4850G>A (p.Gly1617Glu)
n.5339G>A
 gnomAD v4 COSMIC COSMIC
2g.214978940_214978941delinsTTCA645520773ABCA12c.4840_4841delinsAA (p.Gly1614Lys)
c.3886_3887delinsAA (p.Gly1296Lys)
n.5140_5141delinsAA
c.4849_4850delinsAA (p.Gly1617Lys)
n.5338_5339delinsAA
 COSMIC COSMIC
2g.214978941C>ACA350460042ABCA12c.4840G>T (p.Gly1614Ter)
c.3886G>T (p.Gly1296Ter)
n.5140G>T
c.4849G>T (p.Gly1617Ter)
n.5338G>T
2g.214978941C>GCA350460044ABCA12c.4840G>C (p.Gly1614Arg)
c.3886G>C (p.Gly1296Arg)
n.5140G>C
c.4849G>C (p.Gly1617Arg)
n.5338G>C
2g.214978941C>TCA350460047ABCA12c.4840G>A (p.Gly1614Arg)
c.3886G>A (p.Gly1296Arg)
n.5140G>A
c.4849G>A (p.Gly1617Arg)
n.5338G>A
2g.214978942C>ACA431147511ABCA12c.4839G>T (p.Gly1613=)
c.3885G>T (p.Gly1295=)
n.5139G>T
c.4848G>T (p.Gly1616=)
n.5337G>T
2g.214978942C>GCA431147513ABCA12c.4839G>C (p.Gly1613=)
c.3885G>C (p.Gly1295=)
n.5139G>C
c.4848G>C (p.Gly1616=)
n.5337G>C
2g.214978942C>TCA431147515ABCA12c.4839G>A (p.Gly1613=)
c.3885G>A (p.Gly1295=)
n.5139G>A
c.4848G>A (p.Gly1616=)
n.5337G>A
 ClinVar gnomAD v4
2g.214978943C>ACA350460049ABCA12c.4838G>T (p.Gly1613Val)
c.3884G>T (p.Gly1295Val)
n.5138G>T
c.4847G>T (p.Gly1616Val)
n.5336G>T
2g.214978943C=CA1327160372ABCA12c.4838G= (p.Gly1613=)
c.3884G= (p.Gly1295=)
n.5138G=
c.4847G= (p.Gly1616=)
n.5336G=
2g.214978943C>GCA350460051ABCA12c.4838G>C (p.Gly1613Ala)
c.3884G>C (p.Gly1295Ala)
n.5138G>C
c.4847G>C (p.Gly1616Ala)
n.5336G>C
2g.214978943C>TCA2091367ABCA12c.4838G>A (p.Gly1613Glu)
c.3884G>A (p.Gly1295Glu)
n.5138G>A
c.4847G>A (p.Gly1616Glu)
n.5336G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214978944C>ACA350460053ABCA12c.4837G>T (p.Gly1613Trp)
c.3883G>T (p.Gly1295Trp)
n.5137G>T
c.4846G>T (p.Gly1616Trp)
n.5335G>T
2g.214978944C=CA1327160373ABCA12c.4837G= (p.Gly1613=)
c.3883G= (p.Gly1295=)
n.5137G=
c.4846G= (p.Gly1616=)
n.5335G=
2g.214978944C>GCA350460055ABCA12c.4837G>C (p.Gly1613Arg)
c.3883G>C (p.Gly1295Arg)
n.5137G>C
c.4846G>C (p.Gly1616Arg)
n.5335G>C
 dbSNP gnomAD v4
2g.214978944C>TCA350460057ABCA12c.4837G>A (p.Gly1613Arg)
c.3883G>A (p.Gly1295Arg)
n.5137G>A
c.4846G>A (p.Gly1616Arg)
n.5335G>A
2g.214978945A>CCA350460060ABCA12c.4836T>G (p.Ile1612Met)
c.3882T>G (p.Ile1294Met)
n.5136T>G
c.4845T>G (p.Ile1615Met)
n.5334T>G
2g.214978945A>GCA431147523ABCA12c.4836T>C (p.Ile1612=)
c.3882T>C (p.Ile1294=)
n.5136T>C
c.4845T>C (p.Ile1615=)
n.5334T>C
2g.214978945A>TCA431147521ABCA12c.4836T>A (p.Ile1612=)
c.3882T>A (p.Ile1294=)
n.5136T>A
c.4845T>A (p.Ile1615=)
n.5334T>A
2g.214978946A=CA1327160374ABCA12c.4835T= (p.Ile1612=)
c.3881T= (p.Ile1294=)
n.5135T=
c.4844T= (p.Ile1615=)
n.5333T=
2g.214978946A>CCA350460062ABCA12c.4835T>G (p.Ile1612Ser)
c.3881T>G (p.Ile1294Ser)
n.5135T>G
c.4844T>G (p.Ile1615Ser)
n.5333T>G
2g.214978946A>GCA350460064ABCA12c.4835T>C (p.Ile1612Thr)
c.3881T>C (p.Ile1294Thr)
n.5135T>C
c.4844T>C (p.Ile1615Thr)
n.5333T>C
 dbSNP gnomAD v2 gnomAD v4
2g.214978946A>TCA350460066ABCA12c.4835T>A (p.Ile1612Asn)
c.3881T>A (p.Ile1294Asn)
n.5135T>A
c.4844T>A (p.Ile1615Asn)
n.5333T>A
2g.214978947T>ACA350460068ABCA12c.4834A>T (p.Ile1612Phe)
c.3880A>T (p.Ile1294Phe)
n.5134A>T
c.4843A>T (p.Ile1615Phe)
n.5332A>T
2g.214978947T>CCA2091368ABCA12c.4834A>G (p.Ile1612Val)
c.3880A>G (p.Ile1294Val)
n.5134A>G
c.4843A>G (p.Ile1615Val)
n.5332A>G
 dbSNP ExAC
2g.214978947T>GCA350460071ABCA12c.4834A>C (p.Ile1612Leu)
c.3880A>C (p.Ile1294Leu)
n.5134A>C
c.4843A>C (p.Ile1615Leu)
n.5332A>C
2g.214978947T=CA1327160375ABCA12c.4834A= (p.Ile1612=)
c.3880A= (p.Ile1294=)
n.5134A=
c.4843A= (p.Ile1615=)
n.5332A=
2g.214978948A>CCA350460074ABCA12c.4833T>G (p.Asp1611Glu)
c.3879T>G (p.Asp1293Glu)
n.5133T>G
c.4842T>G (p.Asp1614Glu)
n.5331T>G
2g.214978948A>GCA431147780ABCA12c.4833T>C (p.Asp1611=)
c.3879T>C (p.Asp1293=)
n.5133T>C
c.4842T>C (p.Asp1614=)
n.5331T>C
2g.214978948A>TCA350460076ABCA12c.4833T>A (p.Asp1611Glu)
c.3879T>A (p.Asp1293Glu)
n.5133T>A
c.4842T>A (p.Asp1614Glu)
n.5331T>A
2g.214978949T>ACA350460078ABCA12c.4832A>T (p.Asp1611Val)
c.3878A>T (p.Asp1293Val)
n.5132A>T
c.4841A>T (p.Asp1614Val)
n.5330A>T
2g.214978949T>CCA64813746ABCA12c.4832A>G (p.Asp1611Gly)
c.3878A>G (p.Asp1293Gly)
n.5132A>G
c.4841A>G (p.Asp1614Gly)
n.5330A>G
 dbSNP
2g.214978949T>GCA350460079ABCA12c.4832A>C (p.Asp1611Ala)
c.3878A>C (p.Asp1293Ala)
n.5132A>C
c.4841A>C (p.Asp1614Ala)
n.5330A>C
2g.214978949T=CA1327160376ABCA12c.4832A= (p.Asp1611=)
c.3878A= (p.Asp1293=)
n.5132A=
c.4841A= (p.Asp1614=)
n.5330A=
2g.214978950C>ACA350460083ABCA12c.4831G>T (p.Asp1611Tyr)
c.3877G>T (p.Asp1293Tyr)
n.5131G>T
c.4840G>T (p.Asp1614Tyr)
n.5329G>T
2g.214978950C=CA1327160377ABCA12c.4831G= (p.Asp1611=)
c.3877G= (p.Asp1293=)
n.5131G=
c.4840G= (p.Asp1614=)
n.5329G=
2g.214978950C>GCA350460085ABCA12c.4831G>C (p.Asp1611His)
c.3877G>C (p.Asp1293His)
n.5131G>C
c.4840G>C (p.Asp1614His)
n.5329G>C
2g.214978950C>TCA2091369ABCA12c.4831G>A (p.Asp1611Asn)
c.3877G>A (p.Asp1293Asn)
n.5131G>A
c.4840G>A (p.Asp1614Asn)
n.5329G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.214978951C>ACA350460089ABCA12c.4830G>T (p.Glu1610Asp)
c.3876G>T (p.Glu1292Asp)
n.5130G>T
c.4839G>T (p.Glu1613Asp)
n.5328G>T
2g.214978951C=CA1327160378ABCA12c.4830G= (p.Glu1610=)
c.3876G= (p.Glu1292=)
n.5130G=
c.4839G= (p.Glu1613=)
n.5328G=
2g.214978951C>GCA350460092ABCA12c.4830G>C (p.Glu1610Asp)
c.3876G>C (p.Glu1292Asp)
n.5130G>C
c.4839G>C (p.Glu1613Asp)
n.5328G>C
2g.214978951C>TCA64813750ABCA12c.4830G>A (p.Glu1610=)
c.3876G>A (p.Glu1292=)
n.5130G>A
c.4839G>A (p.Glu1613=)
n.5328G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.214978952T>ACA350460095ABCA12c.4829A>T (p.Glu1610Val)
c.3875A>T (p.Glu1292Val)
n.5129A>T
c.4838A>T (p.Glu1613Val)
n.5327A>T
2g.214978952T>CCA350460098ABCA12c.4829A>G (p.Glu1610Gly)
c.3875A>G (p.Glu1292Gly)
n.5129A>G
c.4838A>G (p.Glu1613Gly)
n.5327A>G
 COSMIC COSMIC
2g.214978952T>GCA350460100ABCA12c.4829A>C (p.Glu1610Ala)
c.3875A>C (p.Glu1292Ala)
n.5129A>C
c.4838A>C (p.Glu1613Ala)
n.5327A>C

Number of alleles fetched