Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.214980447G>CCA2577234974ABCA12c.4740+36C>G (n.4740+36C>G)
c.3786+36C>G (n.3786+36C>G)
n.5040+36C>G
c.4749+36C>G (n.4749+36C>G)
n.5238+36C>G
2g.214980448G>ACA2662978466ABCA12c.4740+35C>T (n.4740+35C>T)
c.3786+35C>T (n.3786+35C>T)
n.5040+35C>T
c.4749+35C>T (n.4749+35C>T)
n.5238+35C>T
 gnomAD v4
2g.214980449T>CCA2701480412ABCA12c.4740+34A>G (n.4740+34A>G)
c.3786+34A>G (n.3786+34A>G)
n.5040+34A>G
c.4749+34A>G (n.4749+34A>G)
n.5238+34A>G
 dbSNP
2g.214980450G>ACA1327160954ABCA12c.4740+33C>T (n.4740+33C>T)
c.3786+33C>T (n.3786+33C>T)
n.5040+33C>T
c.4749+33C>T (n.4749+33C>T)
n.5238+33C>T
 dbSNP gnomAD v4
2g.214980450G=CA1327160953ABCA12c.4740+33C= (n.4740+33C=)
c.3786+33C= (n.3786+33C=)
n.5040+33C=
c.4749+33C= (n.4749+33C=)
n.5238+33C=
2g.214980451C>ACA64814718ABCA12c.4740+32G>T (n.4740+32G>T)
c.3786+32G>T (n.3786+32G>T)
n.5040+32G>T
c.4749+32G>T (n.4749+32G>T)
n.5238+32G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.214980451C=CA1327160955ABCA12c.4740+32G= (n.4740+32G=)
c.3786+32G= (n.3786+32G=)
n.5040+32G=
c.4749+32G= (n.4749+32G=)
n.5238+32G=
2g.214980451C>TCA2091399ABCA12c.4740+32G>A (n.4740+32G>A)
c.3786+32G>A (n.3786+32G>A)
n.5040+32G>A
c.4749+32G>A (n.4749+32G>A)
n.5238+32G>A
 dbSNP ExAC gnomAD v2
2g.214980452C>ACA64814728ABCA12c.4740+31G>T (n.4740+31G>T)
c.3786+31G>T (n.3786+31G>T)
n.5040+31G>T
c.4749+31G>T (n.4749+31G>T)
n.5238+31G>T
 dbSNP
2g.214980452C=CA1327160956ABCA12c.4740+31G= (n.4740+31G=)
c.3786+31G= (n.3786+31G=)
n.5040+31G=
c.4749+31G= (n.4749+31G=)
n.5238+31G=
2g.214980452_214980455delinsCATACA1327160957ABCA12c.4740+28_4740+31delinsTATG (n.4740+28_4740+31delinsTATG)
c.3786+28_3786+31delinsTATG (n.3786+28_3786+31delinsTATG)
n.5040+28_5040+31delinsTATG
c.4749+28_4749+31delinsTATG (n.4749+28_4749+31delinsTATG)
n.5238+28_5238+31delinsTATG
2g.214980453A=CA1327160959ABCA12c.4740+30T= (n.4740+30T=)
c.3786+30T= (n.3786+30T=)
n.5040+30T=
c.4749+30T= (n.4749+30T=)
n.5238+30T=
2g.214980453A>GCA2091400ABCA12c.4740+30T>C (n.4740+30T>C)
c.3786+30T>C (n.3786+30T>C)
n.5040+30T>C
c.4749+30T>C (n.4749+30T>C)
n.5238+30T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214980455_214980457delCA1327160958ABCA12c.4740+28_4740+30del (n.4740+28_4740+30del)
c.3786+28_3786+30del (n.3786+28_3786+30del)
n.5040+28_5040+30del
c.4749+28_4749+30del (n.4749+28_4749+30del)
n.5238+28_5238+30del
 dbSNP
2g.214980454T>CCA2577234975ABCA12c.4740+29A>G (n.4740+29A>G)
c.3786+29A>G (n.3786+29A>G)
n.5040+29A>G
c.4749+29A>G (n.4749+29A>G)
n.5238+29A>G
2g.214980457T>ACA2662978467ABCA12c.4740+26A>T (n.4740+26A>T)
c.3786+26A>T (n.3786+26A>T)
n.5040+26A>T
c.4749+26A>T (n.4749+26A>T)
n.5238+26A>T
 gnomAD v4
2g.214980457T>GCA2577234976ABCA12c.4740+26A>C (n.4740+26A>C)
c.3786+26A>C (n.3786+26A>C)
n.5040+26A>C
c.4749+26A>C (n.4749+26A>C)
n.5238+26A>C
 gnomAD v3 gnomAD v4
2g.214980458G>ACA1042217320ABCA12c.4740+25C>T (n.4740+25C>T)
c.3786+25C>T (n.3786+25C>T)
n.5040+25C>T
c.4749+25C>T (n.4749+25C>T)
n.5238+25C>T
 dbSNP gnomAD v3 gnomAD v4
2g.214980458G=CA1327160960ABCA12c.4740+25C= (n.4740+25C=)
c.3786+25C= (n.3786+25C=)
n.5040+25C=
c.4749+25C= (n.4749+25C=)
n.5238+25C=
2g.214980461A>TCA2577234977ABCA12c.4740+22T>A (n.4740+22T>A)
c.3786+22T>A (n.3786+22T>A)
n.5040+22T>A
c.4749+22T>A (n.4749+22T>A)
n.5238+22T>A
 gnomAD v4
2g.214980462T>CCA64814739ABCA12c.4740+21A>G (n.4740+21A>G)
c.3786+21A>G (n.3786+21A>G)
n.5040+21A>G
c.4749+21A>G (n.4749+21A>G)
n.5238+21A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.214980462T=CA1327160961ABCA12c.4740+21A= (n.4740+21A=)
c.3786+21A= (n.3786+21A=)
n.5040+21A=
c.4749+21A= (n.4749+21A=)
n.5238+21A=
2g.214980463A>GCA2577234978ABCA12c.4740+20T>C (n.4740+20T>C)
c.3786+20T>C (n.3786+20T>C)
n.5040+20T>C
c.4749+20T>C (n.4749+20T>C)
n.5238+20T>C
2g.214980463A>TCA2662978468ABCA12c.4740+20T>A (n.4740+20T>A)
c.3786+20T>A (n.3786+20T>A)
n.5040+20T>A
c.4749+20T>A (n.4749+20T>A)
n.5238+20T>A
 gnomAD v4
2g.214980464T>CCA2091401ABCA12c.4740+19A>G (n.4740+19A>G)
c.3786+19A>G (n.3786+19A>G)
n.5040+19A>G
c.4749+19A>G (n.4749+19A>G)
n.5238+19A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214980464T=CA1327160962ABCA12c.4740+19A= (n.4740+19A=)
c.3786+19A= (n.3786+19A=)
n.5040+19A=
c.4749+19A= (n.4749+19A=)
n.5238+19A=
2g.214980465A>CCA2662978469ABCA12c.4740+18T>G (n.4740+18T>G)
c.3786+18T>G (n.3786+18T>G)
n.5040+18T>G
c.4749+18T>G (n.4749+18T>G)
n.5238+18T>G
 gnomAD v4
2g.214980466T>CCA1327160964ABCA12c.4740+17A>G (n.4740+17A>G)
c.3786+17A>G (n.3786+17A>G)
n.5040+17A>G
c.4749+17A>G (n.4749+17A>G)
n.5238+17A>G
 dbSNP
2g.214980466T=CA1327160963ABCA12c.4740+17A= (n.4740+17A=)
c.3786+17A= (n.3786+17A=)
n.5040+17A=
c.4749+17A= (n.4749+17A=)
n.5238+17A=
2g.214980467T>CCA2607395911ABCA12c.4740+16A>G (n.4740+16A>G)
c.3786+16A>G (n.3786+16A>G)
n.5040+16A>G
c.4749+16A>G (n.4749+16A>G)
n.5238+16A>G
 dbSNP gnomAD v3 gnomAD v4
2g.214980469T>CCA1042217325ABCA12c.4740+14A>G (n.4740+14A>G)
c.3786+14A>G (n.3786+14A>G)
n.5040+14A>G
c.4749+14A>G (n.4749+14A>G)
n.5238+14A>G
 dbSNP gnomAD v3 gnomAD v4
2g.214980469T=CA1327160965ABCA12c.4740+14A= (n.4740+14A=)
c.3786+14A= (n.3786+14A=)
n.5040+14A=
c.4749+14A= (n.4749+14A=)
n.5238+14A=
2g.214980470C>ACA2662978470ABCA12c.4740+13G>T (n.4740+13G>T)
c.3786+13G>T (n.3786+13G>T)
n.5040+13G>T
c.4749+13G>T (n.4749+13G>T)
n.5238+13G>T
 gnomAD v4
2g.214980471T>CCA2091402ABCA12c.4740+12A>G (n.4740+12A>G)
c.3786+12A>G (n.3786+12A>G)
n.5040+12A>G
c.4749+12A>G (n.4749+12A>G)
n.5238+12A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214980471T=CA1327160966ABCA12c.4740+12A= (n.4740+12A=)
c.3786+12A= (n.3786+12A=)
n.5040+12A=
c.4749+12A= (n.4749+12A=)
n.5238+12A=
2g.214980473C=CA1327160967ABCA12c.4740+10G= (n.4740+10G=)
c.3786+10G= (n.3786+10G=)
n.5040+10G=
c.4749+10G= (n.4749+10G=)
n.5238+10G=
2g.214980473C>TCA64814768ABCA12c.4740+10G>A (n.4740+10G>A)
c.3786+10G>A (n.3786+10G>A)
n.5040+10G>A
c.4749+10G>A (n.4749+10G>A)
n.5238+10G>A
 dbSNP
2g.214980474C=CA1327160968ABCA12c.4740+9G= (n.4740+9G=)
c.3786+9G= (n.3786+9G=)
n.5040+9G=
c.4749+9G= (n.4749+9G=)
n.5238+9G=
2g.214980474C>TCA2091403ABCA12c.4740+9G>A (n.4740+9G>A)
c.3786+9G>A (n.3786+9G>A)
n.5040+9G>A
c.4749+9G>A (n.4749+9G>A)
n.5238+9G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214980475A>GCA2701480436ABCA12c.4740+8T>C (n.4740+8T>C)
c.3786+8T>C (n.3786+8T>C)
n.5040+8T>C
c.4749+8T>C (n.4749+8T>C)
n.5238+8T>C
 ClinVar dbSNP
2g.214980476T>CCA2091404ABCA12c.4740+7A>G (n.4740+7A>G)
c.3786+7A>G (n.3786+7A>G)
n.5040+7A>G
c.4749+7A>G (n.4749+7A>G)
n.5238+7A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214980476T=CA1327160969ABCA12c.4740+7A= (n.4740+7A=)
c.3786+7A= (n.3786+7A=)
n.5040+7A=
c.4749+7A= (n.4749+7A=)
n.5238+7A=
2g.214980477delCA2662978471ABCA12c.4740+7del (n.4740+7del)
c.3786+7del (n.3786+7del)
n.5040+7del
c.4749+7del (n.4749+7del)
n.5238+7del
 gnomAD v4
2g.214980479C>TCA2662978472ABCA12c.4740+4G>A (n.4740+4G>A)
c.3786+4G>A (n.3786+4G>A)
n.5040+4G>A
c.4749+4G>A (n.4749+4G>A)
n.5238+4G>A
 gnomAD v4
2g.214980481A>CCA350460659ABCA12c.4740+2T>G (n.4740+2T>G)
c.3786+2T>G (n.3786+2T>G)
n.5040+2T>G
c.4749+2T>G (n.4749+2T>G)
n.5238+2T>G
2g.214980481A>GCA350460661ABCA12c.4740+2T>C (n.4740+2T>C)
c.3786+2T>C (n.3786+2T>C)
n.5040+2T>C
c.4749+2T>C (n.4749+2T>C)
n.5238+2T>C
2g.214980481A>TCA350460660ABCA12c.4740+2T>A (n.4740+2T>A)
c.3786+2T>A (n.3786+2T>A)
n.5040+2T>A
c.4749+2T>A (n.4749+2T>A)
n.5238+2T>A
2g.214980482C>ACA350460662ABCA12c.4740+1G>T (n.4740+1G>T)
c.3786+1G>T (n.3786+1G>T)
n.5040+1G>T
c.4749+1G>T (n.4749+1G>T)
n.5238+1G>T
2g.214980482C>GCA350460663ABCA12c.4740+1G>C (n.4740+1G>C)
c.3786+1G>C (n.3786+1G>C)
n.5040+1G>C
c.4749+1G>C (n.4749+1G>C)
n.5238+1G>C
2g.214980482C>TCA350460664ABCA12c.4740+1G>A (n.4740+1G>A)
c.3786+1G>A (n.3786+1G>A)
n.5040+1G>A
c.4749+1G>A (n.4749+1G>A)
n.5238+1G>A
2g.214980482_214980485delinsCCTTCA1327160970ABCA12c.4738_4740+1delinsAAGG
c.3784_3786+1delinsAAGG
n.5038_5040+1delinsAAGG
c.4747_4749+1delinsAAGG
n.5236_5238+1delinsAAGG
2g.214980483C>ACA350460665ABCA12c.4740G>T (p.Lys1580Asn)
c.3786G>T (p.Lys1262Asn)
n.5040G>T
c.4749G>T (p.Lys1583Asn)
n.5238G>T
2g.214980483C>GCA350460666ABCA12c.4740G>C (p.Lys1580Asn)
c.3786G>C (p.Lys1262Asn)
n.5040G>C
c.4749G>C (p.Lys1583Asn)
n.5238G>C
2g.214980483C>TCA431148527ABCA12c.4740G>A (p.Lys1580=)
c.3786G>A (p.Lys1262=)
n.5040G>A
c.4749G>A (p.Lys1583=)
n.5238G>A
2g.214980489_214980491delCA2091405ABCA12c.4738_4740del (p.Lys1580del)
c.3784_3786del (p.Lys1262del)
n.5038_5040del
c.4747_4749del (p.Lys1583del)
n.5236_5238del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214980484T>ACA350460667ABCA12c.4739A>T (p.Lys1580Met)
c.3785A>T (p.Lys1262Met)
n.5039A>T
c.4748A>T (p.Lys1583Met)
n.5237A>T
2g.214980484T>CCA350460668ABCA12c.4739A>G (p.Lys1580Arg)
c.3785A>G (p.Lys1262Arg)
n.5039A>G
c.4748A>G (p.Lys1583Arg)
n.5237A>G
2g.214980484T>GCA350460669ABCA12c.4739A>C (p.Lys1580Thr)
c.3785A>C (p.Lys1262Thr)
n.5039A>C
c.4748A>C (p.Lys1583Thr)
n.5237A>C
2g.214980485T>ACA350460670ABCA12c.4738A>T (p.Lys1580Ter)
c.3784A>T (p.Lys1262Ter)
n.5038A>T
c.4747A>T (p.Lys1583Ter)
n.5236A>T
2g.214980485T>CCA350460671ABCA12c.4738A>G (p.Lys1580Glu)
c.3784A>G (p.Lys1262Glu)
n.5038A>G
c.4747A>G (p.Lys1583Glu)
n.5236A>G
2g.214980485T>GCA350460672ABCA12c.4738A>C (p.Lys1580Gln)
c.3784A>C (p.Lys1262Gln)
n.5038A>C
c.4747A>C (p.Lys1583Gln)
n.5236A>C
2g.214980486C>ACA350460673ABCA12c.4737G>T (p.Lys1579Asn)
c.3783G>T (p.Lys1261Asn)
n.5037G>T
c.4746G>T (p.Lys1582Asn)
n.5235G>T
2g.214980486C>GCA350460674ABCA12c.4737G>C (p.Lys1579Asn)
c.3783G>C (p.Lys1261Asn)
n.5037G>C
c.4746G>C (p.Lys1582Asn)
n.5235G>C
2g.214980486C>TCA431148531ABCA12c.4737G>A (p.Lys1579=)
c.3783G>A (p.Lys1261=)
n.5037G>A
c.4746G>A (p.Lys1582=)
n.5235G>A
 gnomAD v4
2g.214980487T>ACA350460675ABCA12c.4736A>T (p.Lys1579Met)
c.3782A>T (p.Lys1261Met)
n.5036A>T
c.4745A>T (p.Lys1582Met)
n.5234A>T
2g.214980487T>CCA350460677ABCA12c.4736A>G (p.Lys1579Arg)
c.3782A>G (p.Lys1261Arg)
n.5036A>G
c.4745A>G (p.Lys1582Arg)
n.5234A>G
2g.214980487T>GCA350460676ABCA12c.4736A>C (p.Lys1579Thr)
c.3782A>C (p.Lys1261Thr)
n.5036A>C
c.4745A>C (p.Lys1582Thr)
n.5234A>C
2g.214980488T>ACA350460678ABCA12c.4735A>T (p.Lys1579Ter)
c.3781A>T (p.Lys1261Ter)
n.5035A>T
c.4744A>T (p.Lys1582Ter)
n.5233A>T
2g.214980488T>CCA350460679ABCA12c.4735A>G (p.Lys1579Glu)
c.3781A>G (p.Lys1261Glu)
n.5035A>G
c.4744A>G (p.Lys1582Glu)
n.5233A>G
2g.214980488T>GCA350460680ABCA12c.4735A>C (p.Lys1579Gln)
c.3781A>C (p.Lys1261Gln)
n.5035A>C
c.4744A>C (p.Lys1582Gln)
n.5233A>C
 dbSNP
2g.214980489C>ACA350460681ABCA12c.4734G>T (p.Lys1578Asn)
c.3780G>T (p.Lys1260Asn)
n.5034G>T
c.4743G>T (p.Lys1581Asn)
n.5232G>T
 COSMIC COSMIC
2g.214980489C>GCA350460682ABCA12c.4734G>C (p.Lys1578Asn)
c.3780G>C (p.Lys1260Asn)
n.5034G>C
c.4743G>C (p.Lys1581Asn)
n.5232G>C
2g.214980489C>TCA431148553ABCA12c.4734G>A (p.Lys1578=)
c.3780G>A (p.Lys1260=)
n.5034G>A
c.4743G>A (p.Lys1581=)
n.5232G>A
2g.214980490T>ACA350460683ABCA12c.4733A>T (p.Lys1578Met)
c.3779A>T (p.Lys1260Met)
n.5033A>T
c.4742A>T (p.Lys1581Met)
n.5231A>T
2g.214980490T>CCA350460684ABCA12c.4733A>G (p.Lys1578Arg)
c.3779A>G (p.Lys1260Arg)
n.5033A>G
c.4742A>G (p.Lys1581Arg)
n.5231A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.214980490T>GCA350460685ABCA12c.4733A>C (p.Lys1578Thr)
c.3779A>C (p.Lys1260Thr)
n.5033A>C
c.4742A>C (p.Lys1581Thr)
n.5231A>C
2g.214980490T=CA1327160971ABCA12c.4733A= (p.Lys1578=)
c.3779A= (p.Lys1260=)
n.5033A=
c.4742A= (p.Lys1581=)
n.5231A=
2g.214980491T>ACA350460686ABCA12c.4732A>T (p.Lys1578Ter)
c.3778A>T (p.Lys1260Ter)
n.5032A>T
c.4741A>T (p.Lys1581Ter)
n.5230A>T
2g.214980491T>CCA2091406ABCA12c.4732A>G (p.Lys1578Glu)
c.3778A>G (p.Lys1260Glu)
n.5032A>G
c.4741A>G (p.Lys1581Glu)
n.5230A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214980491T>GCA350460687ABCA12c.4732A>C (p.Lys1578Gln)
c.3778A>C (p.Lys1260Gln)
n.5032A>C
c.4741A>C (p.Lys1581Gln)
n.5230A>C
2g.214980491T=CA1327160972ABCA12c.4732A= (p.Lys1578=)
c.3778A= (p.Lys1260=)
n.5032A=
c.4741A= (p.Lys1581=)
n.5230A=
2g.214980492G>ACA431148568ABCA12c.4731C>T (p.Thr1577=)
c.3777C>T (p.Thr1259=)
n.5031C>T
c.4740C>T (p.Thr1580=)
n.5229C>T
2g.214980492G>CCA431148570ABCA12c.4731C>G (p.Thr1577=)
c.3777C>G (p.Thr1259=)
n.5031C>G
c.4740C>G (p.Thr1580=)
n.5229C>G
2g.214980492G>TCA431148569ABCA12c.4731C>A (p.Thr1577=)
c.3777C>A (p.Thr1259=)
n.5031C>A
c.4740C>A (p.Thr1580=)
n.5229C>A
2g.214980493delCA2531160443ABCA12c.4731del (p.Lys1578ArgfsTer7)
c.3777del (p.Lys1260ArgfsTer7)
n.5031del
c.4740del (p.Lys1581ArgfsTer7)
n.5229del
2g.214980493G>ACA350460690ABCA12c.4730C>T (p.Thr1577Ile)
c.3776C>T (p.Thr1259Ile)
n.5030C>T
c.4739C>T (p.Thr1580Ile)
n.5228C>T
2g.214980493G>CCA350460689ABCA12c.4730C>G (p.Thr1577Ser)
c.3776C>G (p.Thr1259Ser)
n.5030C>G
c.4739C>G (p.Thr1580Ser)
n.5228C>G
2g.214980493G>TCA350460688ABCA12c.4730C>A (p.Thr1577Asn)
c.3776C>A (p.Thr1259Asn)
n.5030C>A
c.4739C>A (p.Thr1580Asn)
n.5228C>A
2g.214980494T>ACA350460691ABCA12c.4729A>T (p.Thr1577Ser)
c.3775A>T (p.Thr1259Ser)
n.5029A>T
c.4738A>T (p.Thr1580Ser)
n.5227A>T
2g.214980494T>CCA350460692ABCA12c.4729A>G (p.Thr1577Ala)
c.3775A>G (p.Thr1259Ala)
n.5029A>G
c.4738A>G (p.Thr1580Ala)
n.5227A>G
2g.214980494T>GCA350460693ABCA12c.4729A>C (p.Thr1577Pro)
c.3775A>C (p.Thr1259Pro)
n.5029A>C
c.4738A>C (p.Thr1580Pro)
n.5227A>C
2g.214980495A>CCA431148582ABCA12c.4728T>G (p.Leu1576=)
c.3774T>G (p.Leu1258=)
n.5028T>G
c.4737T>G (p.Leu1579=)
n.5226T>G
2g.214980495A>GCA431148584ABCA12c.4728T>C (p.Leu1576=)
c.3774T>C (p.Leu1258=)
n.5028T>C
c.4737T>C (p.Leu1579=)
n.5226T>C
 dbSNP
2g.214980495A>TCA431148587ABCA12c.4728T>A (p.Leu1576=)
c.3774T>A (p.Leu1258=)
n.5028T>A
c.4737T>A (p.Leu1579=)
n.5226T>A
2g.214980496A>CCA350460694ABCA12c.4727T>G (p.Leu1576Arg)
c.3773T>G (p.Leu1258Arg)
n.5027T>G
c.4736T>G (p.Leu1579Arg)
n.5225T>G
2g.214980496A>GCA350460695ABCA12c.4727T>C (p.Leu1576Pro)
c.3773T>C (p.Leu1258Pro)
n.5027T>C
c.4736T>C (p.Leu1579Pro)
n.5225T>C
2g.214980496A>TCA350460696ABCA12c.4727T>A (p.Leu1576His)
c.3773T>A (p.Leu1258His)
n.5027T>A
c.4736T>A (p.Leu1579His)
n.5225T>A
2g.214980497G>ACA350460697ABCA12c.4726C>T (p.Leu1576Phe)
c.3772C>T (p.Leu1258Phe)
n.5026C>T
c.4735C>T (p.Leu1579Phe)
n.5224C>T
 gnomAD v4
2g.214980497G>CCA350460698ABCA12c.4726C>G (p.Leu1576Val)
c.3772C>G (p.Leu1258Val)
n.5026C>G
c.4735C>G (p.Leu1579Val)
n.5224C>G
2g.214980497G>TCA350460699ABCA12c.4726C>A (p.Leu1576Ile)
c.3772C>A (p.Leu1258Ile)
n.5026C>A
c.4735C>A (p.Leu1579Ile)
n.5224C>A
2g.214980498C>ACA431148599ABCA12c.4725G>T (p.Thr1575=)
c.3771G>T (p.Thr1257=)
n.5025G>T
c.4734G>T (p.Thr1578=)
n.5223G>T
2g.214980498C=CA1327160973ABCA12c.4725G= (p.Thr1575=)
c.3771G= (p.Thr1257=)
n.5025G=
c.4734G= (p.Thr1578=)
n.5223G=
2g.214980498C>GCA431148600ABCA12c.4725G>C (p.Thr1575=)
c.3771G>C (p.Thr1257=)
n.5025G>C
c.4734G>C (p.Thr1578=)
n.5223G>C
2g.214980498C>TCA2091407ABCA12c.4725G>A (p.Thr1575=)
c.3771G>A (p.Thr1257=)
n.5025G>A
c.4734G>A (p.Thr1578=)
n.5223G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214980499G>ACA2091408ABCA12c.4724C>T (p.Thr1575Met)
c.3770C>T (p.Thr1257Met)
n.5024C>T
c.4733C>T (p.Thr1578Met)
n.5222C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.214980499G>CCA350460700ABCA12c.4724C>G (p.Thr1575Arg)
c.3770C>G (p.Thr1257Arg)
n.5024C>G
c.4733C>G (p.Thr1578Arg)
n.5222C>G
2g.214980499G=CA1327160974ABCA12c.4724C= (p.Thr1575=)
c.3770C= (p.Thr1257=)
n.5024C=
c.4733C= (p.Thr1578=)
n.5222C=
2g.214980499G>TCA350460701ABCA12c.4724C>A (p.Thr1575Lys)
c.3770C>A (p.Thr1257Lys)
n.5024C>A
c.4733C>A (p.Thr1578Lys)
n.5222C>A
2g.214980500T>ACA350460702ABCA12c.4723A>T (p.Thr1575Ser)
c.3769A>T (p.Thr1257Ser)
n.5023A>T
c.4732A>T (p.Thr1578Ser)
n.5221A>T
2g.214980500T>CCA350460704ABCA12c.4723A>G (p.Thr1575Ala)
c.3769A>G (p.Thr1257Ala)
n.5023A>G
c.4732A>G (p.Thr1578Ala)
n.5221A>G
2g.214980500T>GCA350460703ABCA12c.4723A>C (p.Thr1575Pro)
c.3769A>C (p.Thr1257Pro)
n.5023A>C
c.4732A>C (p.Thr1578Pro)
n.5221A>C
2g.214980501G>ACA431148609ABCA12c.4722C>T (p.Leu1574=)
c.3768C>T (p.Leu1256=)
n.5022C>T
c.4731C>T (p.Leu1577=)
n.5220C>T
2g.214980501G>CCA431148607ABCA12c.4722C>G (p.Leu1574=)
c.3768C>G (p.Leu1256=)
n.5022C>G
c.4731C>G (p.Leu1577=)
n.5220C>G
 dbSNP
2g.214980501G=CA1327160975ABCA12c.4722C= (p.Leu1574=)
c.3768C= (p.Leu1256=)
n.5022C=
c.4731C= (p.Leu1577=)
n.5220C=
2g.214980501G>TCA431148608ABCA12c.4722C>A (p.Leu1574=)
c.3768C>A (p.Leu1256=)
n.5022C>A
c.4731C>A (p.Leu1577=)
n.5220C>A
2g.214980502A>CCA350460706ABCA12c.4721T>G (p.Leu1574Arg)
c.3767T>G (p.Leu1256Arg)
n.5021T>G
c.4730T>G (p.Leu1577Arg)
n.5219T>G
2g.214980502A>GCA350460710ABCA12c.4721T>C (p.Leu1574Pro)
c.3767T>C (p.Leu1256Pro)
n.5021T>C
c.4730T>C (p.Leu1577Pro)
n.5219T>C
2g.214980502A>TCA350460708ABCA12c.4721T>A (p.Leu1574His)
c.3767T>A (p.Leu1256His)
n.5021T>A
c.4730T>A (p.Leu1577His)
n.5219T>A
2g.214980503G>ACA2091409ABCA12c.4720C>T (p.Leu1574Phe)
c.3766C>T (p.Leu1256Phe)
n.5020C>T
c.4729C>T (p.Leu1577Phe)
n.5218C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214980503G>CCA350460713ABCA12c.4720C>G (p.Leu1574Val)
c.3766C>G (p.Leu1256Val)
n.5020C>G
c.4729C>G (p.Leu1577Val)
n.5218C>G
2g.214980503G=CA1327160976ABCA12c.4720C= (p.Leu1574=)
c.3766C= (p.Leu1256=)
n.5020C=
c.4729C= (p.Leu1577=)
n.5218C=
2g.214980503G>TCA350460715ABCA12c.4720C>A (p.Leu1574Ile)
c.3766C>A (p.Leu1256Ile)
n.5020C>A
c.4729C>A (p.Leu1577Ile)
n.5218C>A
2g.214980504G>ACA431148622ABCA12c.4719C>T (p.His1573=)
c.3765C>T (p.His1255=)
n.5019C>T
c.4728C>T (p.His1576=)
n.5217C>T
 dbSNP gnomAD v4 COSMIC COSMIC
2g.214980504G>CCA350460717ABCA12c.4719C>G (p.His1573Gln)
c.3765C>G (p.His1255Gln)
n.5019C>G
c.4728C>G (p.His1576Gln)
n.5217C>G
2g.214980504G=CA1327160977ABCA12c.4719C= (p.His1573=)
c.3765C= (p.His1255=)
n.5019C=
c.4728C= (p.His1576=)
n.5217C=
2g.214980504G>TCA350460719ABCA12c.4719C>A (p.His1573Gln)
c.3765C>A (p.His1255Gln)
n.5019C>A
c.4728C>A (p.His1576Gln)
n.5217C>A
2g.214980505_214980506delCA2662978473ABCA12c.4718_4719del (p.His1573ProfsTer18)
c.3764_3765del (p.His1255ProfsTer18)
n.5018_5019del
c.4727_4728del (p.His1576ProfsTer18)
n.5216_5217del
 gnomAD v4
2g.214980505T>ACA350460721ABCA12c.4718A>T (p.His1573Leu)
c.3764A>T (p.His1255Leu)
n.5018A>T
c.4727A>T (p.His1576Leu)
n.5216A>T
2g.214980505T>CCA350460723ABCA12c.4718A>G (p.His1573Arg)
c.3764A>G (p.His1255Arg)
n.5018A>G
c.4727A>G (p.His1576Arg)
n.5216A>G
 dbSNP gnomAD v3 gnomAD v4
2g.214980505T>GCA350460725ABCA12c.4718A>C (p.His1573Pro)
c.3764A>C (p.His1255Pro)
n.5018A>C
c.4727A>C (p.His1576Pro)
n.5216A>C
2g.214980505T=CA1327160978ABCA12c.4718A= (p.His1573=)
c.3764A= (p.His1255=)
n.5018A=
c.4727A= (p.His1576=)
n.5216A=
2g.214980506G>ACA350460727ABCA12c.4717C>T (p.His1573Tyr)
c.3763C>T (p.His1255Tyr)
n.5017C>T
c.4726C>T (p.His1576Tyr)
n.5215C>T
 COSMIC
2g.214980506G>CCA350460729ABCA12c.4717C>G (p.His1573Asp)
c.3763C>G (p.His1255Asp)
n.5017C>G
c.4726C>G (p.His1576Asp)
n.5215C>G
2g.214980506G>TCA350460731ABCA12c.4717C>A (p.His1573Asn)
c.3763C>A (p.His1255Asn)
n.5017C>A
c.4726C>A (p.His1576Asn)
n.5215C>A
2g.214980507A>CCA350460733ABCA12c.4716T>G (p.Tyr1572Ter)
c.3762T>G (p.Tyr1254Ter)
n.5016T>G
c.4725T>G (p.Tyr1575Ter)
n.5214T>G
2g.214980507A>GCA431148631ABCA12c.4716T>C (p.Tyr1572=)
c.3762T>C (p.Tyr1254=)
n.5016T>C
c.4725T>C (p.Tyr1575=)
n.5214T>C
2g.214980507A>TCA350460735ABCA12c.4716T>A (p.Tyr1572Ter)
c.3762T>A (p.Tyr1254Ter)
n.5016T>A
c.4725T>A (p.Tyr1575Ter)
n.5214T>A
2g.214980508T>ACA350460738ABCA12c.4715A>T (p.Tyr1572Phe)
c.3761A>T (p.Tyr1254Phe)
n.5015A>T
c.4724A>T (p.Tyr1575Phe)
n.5213A>T
2g.214980508T>CCA350460742ABCA12c.4715A>G (p.Tyr1572Cys)
c.3761A>G (p.Tyr1254Cys)
n.5015A>G
c.4724A>G (p.Tyr1575Cys)
n.5213A>G
 gnomAD v4
2g.214980508T>GCA350460740ABCA12c.4715A>C (p.Tyr1572Ser)
c.3761A>C (p.Tyr1254Ser)
n.5015A>C
c.4724A>C (p.Tyr1575Ser)
n.5213A>C
2g.214980509A>CCA350460744ABCA12c.4714T>G (p.Tyr1572Asp)
c.3760T>G (p.Tyr1254Asp)
n.5014T>G
c.4723T>G (p.Tyr1575Asp)
n.5212T>G
2g.214980509A>GCA350460746ABCA12c.4714T>C (p.Tyr1572His)
c.3760T>C (p.Tyr1254His)
n.5014T>C
c.4723T>C (p.Tyr1575His)
n.5212T>C
 gnomAD v4
2g.214980509A>TCA350460747ABCA12c.4714T>A (p.Tyr1572Asn)
c.3760T>A (p.Tyr1254Asn)
n.5014T>A
c.4723T>A (p.Tyr1575Asn)
n.5212T>A
2g.214980510C>ACA431148641ABCA12c.4713G>T (p.Gly1571=)
c.3759G>T (p.Gly1253=)
n.5013G>T
c.4722G>T (p.Gly1574=)
n.5211G>T
2g.214980510C=CA1327160979ABCA12c.4713G= (p.Gly1571=)
c.3759G= (p.Gly1253=)
n.5013G=
c.4722G= (p.Gly1574=)
n.5211G=
2g.214980510C>GCA2091410ABCA12c.4713G>C (p.Gly1571=)
c.3759G>C (p.Gly1253=)
n.5013G>C
c.4722G>C (p.Gly1574=)
n.5211G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.214980510C>TCA431148645ABCA12c.4713G>A (p.Gly1571=)
c.3759G>A (p.Gly1253=)
n.5013G>A
c.4722G>A (p.Gly1574=)
n.5211G>A
2g.214980511C>ACA350460751ABCA12c.4712G>T (p.Gly1571Val)
c.3758G>T (p.Gly1253Val)
n.5012G>T
c.4721G>T (p.Gly1574Val)
n.5210G>T
2g.214980511C>GCA350460752ABCA12c.4712G>C (p.Gly1571Ala)
c.3758G>C (p.Gly1253Ala)
n.5012G>C
c.4721G>C (p.Gly1574Ala)
n.5210G>C
2g.214980511C>TCA350460754ABCA12c.4712G>A (p.Gly1571Glu)
c.3758G>A (p.Gly1253Glu)
n.5012G>A
c.4721G>A (p.Gly1574Glu)
n.5210G>A
2g.214980512C>ACA350460757ABCA12c.4711G>T (p.Gly1571Trp)
c.3757G>T (p.Gly1253Trp)
n.5011G>T
c.4720G>T (p.Gly1574Trp)
n.5209G>T
2g.214980512C>GCA350460758ABCA12c.4711G>C (p.Gly1571Arg)
c.3757G>C (p.Gly1253Arg)
n.5011G>C
c.4720G>C (p.Gly1574Arg)
n.5209G>C
2g.214980512C>TCA350460760ABCA12c.4711G>A (p.Gly1571Arg)
c.3757G>A (p.Gly1253Arg)
n.5011G>A
c.4720G>A (p.Gly1574Arg)
n.5209G>A
2g.214980513A>CCA350460764ABCA12c.4710T>G (p.Asp1570Glu)
c.3756T>G (p.Asp1252Glu)
n.5010T>G
c.4719T>G (p.Asp1573Glu)
n.5208T>G
2g.214980513A>GCA431148651ABCA12c.4710T>C (p.Asp1570=)
c.3756T>C (p.Asp1252=)
n.5010T>C
c.4719T>C (p.Asp1573=)
n.5208T>C
 gnomAD v4
2g.214980513A>TCA350460762ABCA12c.4710T>A (p.Asp1570Glu)
c.3756T>A (p.Asp1252Glu)
n.5010T>A
c.4719T>A (p.Asp1573Glu)
n.5208T>A
2g.214980514T>ACA350460766ABCA12c.4709A>T (p.Asp1570Val)
c.3755A>T (p.Asp1252Val)
n.5009A>T
c.4718A>T (p.Asp1573Val)
n.5207A>T
2g.214980514T>CCA350460767ABCA12c.4709A>G (p.Asp1570Gly)
c.3755A>G (p.Asp1252Gly)
n.5009A>G
c.4718A>G (p.Asp1573Gly)
n.5207A>G
2g.214980514T>GCA350460769ABCA12c.4709A>C (p.Asp1570Ala)
c.3755A>C (p.Asp1252Ala)
n.5009A>C
c.4718A>C (p.Asp1573Ala)
n.5207A>C
2g.214980515C>ACA350460770ABCA12c.4708G>T (p.Asp1570Tyr)
c.3754G>T (p.Asp1252Tyr)
n.5008G>T
c.4717G>T (p.Asp1573Tyr)
n.5206G>T
 gnomAD v4
2g.214980515C=CA1327160980ABCA12c.4708G= (p.Asp1570=)
c.3754G= (p.Asp1252=)
n.5008G=
c.4717G= (p.Asp1573=)
n.5206G=
2g.214980515C>GCA350460772ABCA12c.4708G>C (p.Asp1570His)
c.3754G>C (p.Asp1252His)
n.5008G>C
c.4717G>C (p.Asp1573His)
n.5206G>C
2g.214980515C>TCA2091411ABCA12c.4708G>A (p.Asp1570Asn)
c.3754G>A (p.Asp1252Asn)
n.5008G>A
c.4717G>A (p.Asp1573Asn)
n.5206G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.214980516G>ACA2091412ABCA12c.4707C>T (p.Gly1569=)
c.3753C>T (p.Gly1251=)
n.5007C>T
c.4716C>T (p.Gly1572=)
n.5205C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.214980516G>CCA431148659ABCA12c.4707C>G (p.Gly1569=)
c.3753C>G (p.Gly1251=)
n.5007C>G
c.4716C>G (p.Gly1572=)
n.5205C>G
2g.214980516G=CA1327160981ABCA12c.4707C= (p.Gly1569=)
c.3753C= (p.Gly1251=)
n.5007C=
c.4716C= (p.Gly1572=)
n.5205C=
2g.214980516G>TCA431148661ABCA12c.4707C>A (p.Gly1569=)
c.3753C>A (p.Gly1251=)
n.5007C>A
c.4716C>A (p.Gly1572=)
n.5205C>A
2g.214980517C>ACA350460779ABCA12c.4706G>T (p.Gly1569Val)
c.3752G>T (p.Gly1251Val)
n.5006G>T
c.4715G>T (p.Gly1572Val)
n.5204G>T
2g.214980517C>GCA350460777ABCA12c.4706G>C (p.Gly1569Ala)
c.3752G>C (p.Gly1251Ala)
n.5006G>C
c.4715G>C (p.Gly1572Ala)
n.5204G>C
2g.214980517C>TCA350460778ABCA12c.4706G>A (p.Gly1569Asp)
c.3752G>A (p.Gly1251Asp)
n.5006G>A
c.4715G>A (p.Gly1572Asp)
n.5204G>A
2g.214980518C>ACA350460782ABCA12c.4705G>T (p.Gly1569Cys)
c.3751G>T (p.Gly1251Cys)
n.5005G>T
c.4714G>T (p.Gly1572Cys)
n.5203G>T
2g.214980518C>GCA350460784ABCA12c.4705G>C (p.Gly1569Arg)
c.3751G>C (p.Gly1251Arg)
n.5005G>C
c.4714G>C (p.Gly1572Arg)
n.5203G>C
2g.214980518C>TCA350460785ABCA12c.4705G>A (p.Gly1569Ser)
c.3751G>A (p.Gly1251Ser)
n.5005G>A
c.4714G>A (p.Gly1572Ser)
n.5203G>A
2g.214980519A>CCA350460787ABCA12c.4704T>G (p.Phe1568Leu)
c.3750T>G (p.Phe1250Leu)
n.5004T>G
c.4713T>G (p.Phe1571Leu)
n.5202T>G
2g.214980519A>GCA431148673ABCA12c.4704T>C (p.Phe1568=)
c.3750T>C (p.Phe1250=)
n.5004T>C
c.4713T>C (p.Phe1571=)
n.5202T>C
2g.214980519A>TCA350460788ABCA12c.4704T>A (p.Phe1568Leu)
c.3750T>A (p.Phe1250Leu)
n.5004T>A
c.4713T>A (p.Phe1571Leu)
n.5202T>A
2g.214980521delCA2662978474ABCA12c.4704del (p.Phe1568LeufsTer17)
c.3750del (p.Phe1250LeufsTer17)
n.5004del
c.4713del (p.Phe1571LeufsTer17)
n.5202del
 gnomAD v4
2g.214980520A>CCA350460790ABCA12c.4703T>G (p.Phe1568Cys)
c.3749T>G (p.Phe1250Cys)
n.5003T>G
c.4712T>G (p.Phe1571Cys)
n.5201T>G
 gnomAD v4
2g.214980520A>GCA350460794ABCA12c.4703T>C (p.Phe1568Ser)
c.3749T>C (p.Phe1250Ser)
n.5003T>C
c.4712T>C (p.Phe1571Ser)
n.5201T>C
2g.214980520A>TCA350460792ABCA12c.4703T>A (p.Phe1568Tyr)
c.3749T>A (p.Phe1250Tyr)
n.5003T>A
c.4712T>A (p.Phe1571Tyr)
n.5201T>A
2g.214980521A>CCA350460795ABCA12c.4702T>G (p.Phe1568Val)
c.3748T>G (p.Phe1250Val)
n.5002T>G
c.4711T>G (p.Phe1571Val)
n.5200T>G
2g.214980521A>GCA350460796ABCA12c.4702T>C (p.Phe1568Leu)
c.3748T>C (p.Phe1250Leu)
n.5002T>C
c.4711T>C (p.Phe1571Leu)
n.5200T>C
 gnomAD v4
2g.214980521A>TCA350460798ABCA12c.4702T>A (p.Phe1568Ile)
c.3748T>A (p.Phe1250Ile)
n.5002T>A
c.4711T>A (p.Phe1571Ile)
n.5200T>A
2g.214980522G>ACA431148687ABCA12c.4701C>T (p.Ala1567=)
c.3747C>T (p.Ala1249=)
n.5001C>T
c.4710C>T (p.Ala1570=)
n.5199C>T
2g.214980522G>CCA431148683ABCA12c.4701C>G (p.Ala1567=)
c.3747C>G (p.Ala1249=)
n.5001C>G
c.4710C>G (p.Ala1570=)
n.5199C>G
2g.214980522G>TCA431148685ABCA12c.4701C>A (p.Ala1567=)
c.3747C>A (p.Ala1249=)
n.5001C>A
c.4710C>A (p.Ala1570=)
n.5199C>A
2g.214980523G>ACA350460800ABCA12c.4700C>T (p.Ala1567Val)
c.3746C>T (p.Ala1249Val)
n.5000C>T
c.4709C>T (p.Ala1570Val)
n.5198C>T
2g.214980523G>CCA350460801ABCA12c.4700C>G (p.Ala1567Gly)
c.3746C>G (p.Ala1249Gly)
n.5000C>G
c.4709C>G (p.Ala1570Gly)
n.5198C>G
 dbSNP gnomAD v3 gnomAD v4
2g.214980523G=CA1327160982ABCA12c.4700C= (p.Ala1567=)
c.3746C= (p.Ala1249=)
n.5000C=
c.4709C= (p.Ala1570=)
n.5198C=
2g.214980523G>TCA350460803ABCA12c.4700C>A (p.Ala1567Asp)
c.3746C>A (p.Ala1249Asp)
n.5000C>A
c.4709C>A (p.Ala1570Asp)
n.5198C>A
 gnomAD v4
2g.214980524C>ACA350460805ABCA12c.4699G>T (p.Ala1567Ser)
c.3745G>T (p.Ala1249Ser)
n.4999G>T
c.4708G>T (p.Ala1570Ser)
n.5197G>T
2g.214980524C>GCA350460807ABCA12c.4699G>C (p.Ala1567Pro)
c.3745G>C (p.Ala1249Pro)
n.4999G>C
c.4708G>C (p.Ala1570Pro)
n.5197G>C
2g.214980524C>TCA350460808ABCA12c.4699G>A (p.Ala1567Thr)
c.3745G>A (p.Ala1249Thr)
n.4999G>A
c.4708G>A (p.Ala1570Thr)
n.5197G>A
 gnomAD v4
2g.214980525T>ACA350460811ABCA12c.4698A>T (p.Glu1566Asp)
c.3744A>T (p.Glu1248Asp)
n.4998A>T
c.4707A>T (p.Glu1569Asp)
n.5196A>T
2g.214980525T>CCA431148693ABCA12c.4698A>G (p.Glu1566=)
c.3744A>G (p.Glu1248=)
n.4998A>G
c.4707A>G (p.Glu1569=)
n.5196A>G
 dbSNP gnomAD v3 gnomAD v4
2g.214980525T>GCA350460812ABCA12c.4698A>C (p.Glu1566Asp)
c.3744A>C (p.Glu1248Asp)
n.4998A>C
c.4707A>C (p.Glu1569Asp)
n.5196A>C
2g.214980525T=CA1327160983ABCA12c.4698A= (p.Glu1566=)
c.3744A= (p.Glu1248=)
n.4998A=
c.4707A= (p.Glu1569=)
n.5196A=
2g.214980526T>ACA350460815ABCA12c.4697A>T (p.Glu1566Val)
c.3743A>T (p.Glu1248Val)
n.4997A>T
c.4706A>T (p.Glu1569Val)
n.5195A>T
2g.214980526T>CCA64814840ABCA12c.4697A>G (p.Glu1566Gly)
c.3743A>G (p.Glu1248Gly)
n.4997A>G
c.4706A>G (p.Glu1569Gly)
n.5195A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.214980526T>GCA350460816ABCA12c.4697A>C (p.Glu1566Ala)
c.3743A>C (p.Glu1248Ala)
n.4997A>C
c.4706A>C (p.Glu1569Ala)
n.5195A>C
2g.214980526T=CA1327160984ABCA12c.4697A= (p.Glu1566=)
c.3743A= (p.Glu1248=)
n.4997A=
c.4706A= (p.Glu1569=)
n.5195A=
2g.214980527C>ACA350460820ABCA12c.4696G>T (p.Glu1566Ter)
c.3742G>T (p.Glu1248Ter)
n.4996G>T
c.4705G>T (p.Glu1569Ter)
n.5194G>T
2g.214980527C=CA1327160985ABCA12c.4696G= (p.Glu1566=)
c.3742G= (p.Glu1248=)
n.4996G=
c.4705G= (p.Glu1569=)
n.5194G=
2g.214980527C>GCA350460823ABCA12c.4696G>C (p.Glu1566Gln)
c.3742G>C (p.Glu1248Gln)
n.4996G>C
c.4705G>C (p.Glu1569Gln)
n.5194G>C
2g.214980527C>TCA64814843ABCA12c.4696G>A (p.Glu1566Lys)
c.3742G>A (p.Glu1248Lys)
n.4996G>A
c.4705G>A (p.Glu1569Lys)
n.5194G>A
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.214980528C>ACA350460825ABCA12c.4695G>T (p.Lys1565Asn)
c.3741G>T (p.Lys1247Asn)
n.4995G>T
c.4704G>T (p.Lys1568Asn)
n.5193G>T
 dbSNP gnomAD v2 gnomAD v4
2g.214980528C=CA1327160986ABCA12c.4695G= (p.Lys1565=)
c.3741G= (p.Lys1247=)
n.4995G=
c.4704G= (p.Lys1568=)
n.5193G=
2g.214980528C>GCA350460827ABCA12c.4695G>C (p.Lys1565Asn)
c.3741G>C (p.Lys1247Asn)
n.4995G>C
c.4704G>C (p.Lys1568Asn)
n.5193G>C
2g.214980528C>TCA431148702ABCA12c.4695G>A (p.Lys1565=)
c.3741G>A (p.Lys1247=)
n.4995G>A
c.4704G>A (p.Lys1568=)
n.5193G>A
 COSMIC COSMIC
2g.214980529T>ACA350460828ABCA12c.4694A>T (p.Lys1565Met)
c.3740A>T (p.Lys1247Met)
n.4994A>T
c.4703A>T (p.Lys1568Met)
n.5192A>T
2g.214980529T>CCA350460830ABCA12c.4694A>G (p.Lys1565Arg)
c.3740A>G (p.Lys1247Arg)
n.4994A>G
c.4703A>G (p.Lys1568Arg)
n.5192A>G
2g.214980529T>GCA350460832ABCA12c.4694A>C (p.Lys1565Thr)
c.3740A>C (p.Lys1247Thr)
n.4994A>C
c.4703A>C (p.Lys1568Thr)
n.5192A>C
2g.214980530T>ACA350460834ABCA12c.4693A>T (p.Lys1565Ter)
c.3739A>T (p.Lys1247Ter)
n.4993A>T
c.4702A>T (p.Lys1568Ter)
n.5191A>T
2g.214980530T>CCA350460836ABCA12c.4693A>G (p.Lys1565Glu)
c.3739A>G (p.Lys1247Glu)
n.4993A>G
c.4702A>G (p.Lys1568Glu)
n.5191A>G
2g.214980530T>GCA350460838ABCA12c.4693A>C (p.Lys1565Gln)
c.3739A>C (p.Lys1247Gln)
n.4993A>C
c.4702A>C (p.Lys1568Gln)
n.5191A>C
2g.214980531G>ACA2091413ABCA12c.4692C>T (p.Leu1564=)
c.3738C>T (p.Leu1246=)
n.4992C>T
c.4701C>T (p.Leu1567=)
n.5190C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214980531G>CCA431148709ABCA12c.4692C>G (p.Leu1564=)
c.3738C>G (p.Leu1246=)
n.4992C>G
c.4701C>G (p.Leu1567=)
n.5190C>G
 gnomAD v4
2g.214980531G=CA1327160987ABCA12c.4692C= (p.Leu1564=)
c.3738C= (p.Leu1246=)
n.4992C=
c.4701C= (p.Leu1567=)
n.5190C=
2g.214980531G>TCA2091414ABCA12c.4692C>A (p.Leu1564=)
c.3738C>A (p.Leu1246=)
n.4992C>A
c.4701C>A (p.Leu1567=)
n.5190C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214980532A>CCA350460840ABCA12c.4691T>G (p.Leu1564Arg)
c.3737T>G (p.Leu1246Arg)
n.4991T>G
c.4700T>G (p.Leu1567Arg)
n.5189T>G
2g.214980532A>GCA350460841ABCA12c.4691T>C (p.Leu1564Pro)
c.3737T>C (p.Leu1246Pro)
n.4991T>C
c.4700T>C (p.Leu1567Pro)
n.5189T>C
2g.214980532A>TCA350460842ABCA12c.4691T>A (p.Leu1564His)
c.3737T>A (p.Leu1246His)
n.4991T>A
c.4700T>A (p.Leu1567His)
n.5189T>A
2g.214980533G>ACA350460848ABCA12c.4690C>T (p.Leu1564Phe)
c.3736C>T (p.Leu1246Phe)
n.4990C>T
c.4699C>T (p.Leu1567Phe)
n.5188C>T
2g.214980533G>CCA350460846ABCA12c.4690C>G (p.Leu1564Val)
c.3736C>G (p.Leu1246Val)
n.4990C>G
c.4699C>G (p.Leu1567Val)
n.5188C>G
2g.214980533G>TCA350460844ABCA12c.4690C>A (p.Leu1564Ile)
c.3736C>A (p.Leu1246Ile)
n.4990C>A
c.4699C>A (p.Leu1567Ile)
n.5188C>A
2g.214980534G>ACA2091415ABCA12c.4689C>T (p.Tyr1563=)
c.3735C>T (p.Tyr1245=)
n.4989C>T
c.4698C>T (p.Tyr1566=)
n.5187C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.214980534G>CCA350460851ABCA12c.4689C>G (p.Tyr1563Ter)
c.3735C>G (p.Tyr1245Ter)
n.4989C>G
c.4698C>G (p.Tyr1566Ter)
n.5187C>G
2g.214980534G=CA1327160988ABCA12c.4689C= (p.Tyr1563=)
c.3735C= (p.Tyr1245=)
n.4989C=
c.4698C= (p.Tyr1566=)
n.5187C=
2g.214980534G>TCA350460853ABCA12c.4689C>A (p.Tyr1563Ter)
c.3735C>A (p.Tyr1245Ter)
n.4989C>A
c.4698C>A (p.Tyr1566Ter)
n.5187C>A
2g.214980535T>ACA350460855ABCA12c.4688A>T (p.Tyr1563Phe)
c.3734A>T (p.Tyr1245Phe)
n.4988A>T
c.4697A>T (p.Tyr1566Phe)
n.5186A>T
2g.214980535T>CCA2091416ABCA12c.4688A>G (p.Tyr1563Cys)
c.3734A>G (p.Tyr1245Cys)
n.4988A>G
c.4697A>G (p.Tyr1566Cys)
n.5186A>G
 dbSNP ExAC gnomAD v2
2g.214980535T>GCA350460858ABCA12c.4688A>C (p.Tyr1563Ser)
c.3734A>C (p.Tyr1245Ser)
n.4988A>C
c.4697A>C (p.Tyr1566Ser)
n.5186A>C
2g.214980535T=CA1327160989ABCA12c.4688A= (p.Tyr1563=)
c.3734A= (p.Tyr1245=)
n.4988A=
c.4697A= (p.Tyr1566=)
n.5186A=
2g.214980536A>CCA350460860ABCA12c.4687T>G (p.Tyr1563Asp)
c.3733T>G (p.Tyr1245Asp)
n.4987T>G
c.4696T>G (p.Tyr1566Asp)
n.5185T>G
2g.214980536A>GCA350460862ABCA12c.4687T>C (p.Tyr1563His)
c.3733T>C (p.Tyr1245His)
n.4987T>C
c.4696T>C (p.Tyr1566His)
n.5185T>C
 gnomAD v4
2g.214980536A>TCA350460864ABCA12c.4687T>A (p.Tyr1563Asn)
c.3733T>A (p.Tyr1245Asn)
n.4987T>A
c.4696T>A (p.Tyr1566Asn)
n.5185T>A
2g.214980537A>CCA350460866ABCA12c.4686T>G (p.Phe1562Leu)
c.3732T>G (p.Phe1244Leu)
n.4986T>G
c.4695T>G (p.Phe1565Leu)
n.5184T>G
2g.214980537A>GCA431148727ABCA12c.4686T>C (p.Phe1562=)
c.3732T>C (p.Phe1244=)
n.4986T>C
c.4695T>C (p.Phe1565=)
n.5184T>C
2g.214980537A>TCA350460868ABCA12c.4686T>A (p.Phe1562Leu)
c.3732T>A (p.Phe1244Leu)
n.4986T>A
c.4695T>A (p.Phe1565Leu)
n.5184T>A
2g.214980538A>CCA350460874ABCA12c.4685T>G (p.Phe1562Cys)
c.3731T>G (p.Phe1244Cys)
n.4985T>G
c.4694T>G (p.Phe1565Cys)
n.5183T>G
 gnomAD v4
2g.214980538A>GCA350460872ABCA12c.4685T>C (p.Phe1562Ser)
c.3731T>C (p.Phe1244Ser)
n.4985T>C
c.4694T>C (p.Phe1565Ser)
n.5183T>C
2g.214980538A>TCA350460870ABCA12c.4685T>A (p.Phe1562Tyr)
c.3731T>A (p.Phe1244Tyr)
n.4985T>A
c.4694T>A (p.Phe1565Tyr)
n.5183T>A
2g.214980539A>CCA350460876ABCA12c.4684T>G (p.Phe1562Val)
c.3730T>G (p.Phe1244Val)
n.4984T>G
c.4693T>G (p.Phe1565Val)
n.5182T>G
2g.214980539A>GCA350460878ABCA12c.4684T>C (p.Phe1562Leu)
c.3730T>C (p.Phe1244Leu)
n.4984T>C
c.4693T>C (p.Phe1565Leu)
n.5182T>C
2g.214980539A>TCA350460880ABCA12c.4684T>A (p.Phe1562Ile)
c.3730T>A (p.Phe1244Ile)
n.4984T>A
c.4693T>A (p.Phe1565Ile)
n.5182T>A
2g.214980540T>ACA431148732ABCA12c.4683A>T (p.Pro1561=)
c.3729A>T (p.Pro1243=)
n.4983A>T
c.4692A>T (p.Pro1564=)
n.5181A>T
 dbSNP gnomAD v2 gnomAD v4
2g.214980540T>CCA431148734ABCA12c.4683A>G (p.Pro1561=)
c.3729A>G (p.Pro1243=)
n.4983A>G
c.4692A>G (p.Pro1564=)
n.5181A>G
2g.214980540T>GCA431148735ABCA12c.4683A>C (p.Pro1561=)
c.3729A>C (p.Pro1243=)
n.4983A>C
c.4692A>C (p.Pro1564=)
n.5181A>C
2g.214980540T=CA1327160990ABCA12c.4683A= (p.Pro1561=)
c.3729A= (p.Pro1243=)
n.4983A=
c.4692A= (p.Pro1564=)
n.5181A=
2g.214980541G>ACA350460881ABCA12c.4682C>T (p.Pro1561Leu)
c.3728C>T (p.Pro1243Leu)
n.4982C>T
c.4691C>T (p.Pro1564Leu)
n.5180C>T
2g.214980541G>CCA350460883ABCA12c.4682C>G (p.Pro1561Arg)
c.3728C>G (p.Pro1243Arg)
n.4982C>G
c.4691C>G (p.Pro1564Arg)
n.5180C>G
 gnomAD v4
2g.214980541G>TCA350460885ABCA12c.4682C>A (p.Pro1561Gln)
c.3728C>A (p.Pro1243Gln)
n.4982C>A
c.4691C>A (p.Pro1564Gln)
n.5180C>A
2g.214980542G>ACA350460886ABCA12c.4681C>T (p.Pro1561Ser)
c.3727C>T (p.Pro1243Ser)
n.4981C>T
c.4690C>T (p.Pro1564Ser)
n.5179C>T
2g.214980542G>CCA350460888ABCA12c.4681C>G (p.Pro1561Ala)
c.3727C>G (p.Pro1243Ala)
n.4981C>G
c.4690C>G (p.Pro1564Ala)
n.5179C>G
2g.214980542G>TCA350460890ABCA12c.4681C>A (p.Pro1561Thr)
c.3727C>A (p.Pro1243Thr)
n.4981C>A
c.4690C>A (p.Pro1564Thr)
n.5179C>A
2g.214980543G>ACA431148742ABCA12c.4680C>T (p.Ser1560=)
c.3726C>T (p.Ser1242=)
n.4980C>T
c.4689C>T (p.Ser1563=)
n.5178C>T
2g.214980543G>CCA431148744ABCA12c.4680C>G (p.Ser1560=)
c.3726C>G (p.Ser1242=)
n.4980C>G
c.4689C>G (p.Ser1563=)
n.5178C>G
2g.214980543G>TCA431148746ABCA12c.4680C>A (p.Ser1560=)
c.3726C>A (p.Ser1242=)
n.4980C>A
c.4689C>A (p.Ser1563=)
n.5178C>A
2g.214980544G>ACA350460893ABCA12c.4679C>T (p.Ser1560Phe)
c.3725C>T (p.Ser1242Phe)
n.4979C>T
c.4688C>T (p.Ser1563Phe)
n.5177C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.214980544G>CCA350460895ABCA12c.4679C>G (p.Ser1560Cys)
c.3725C>G (p.Ser1242Cys)
n.4979C>G
c.4688C>G (p.Ser1563Cys)
n.5177C>G
2g.214980544G=CA1327160991ABCA12c.4679C= (p.Ser1560=)
c.3725C= (p.Ser1242=)
n.4979C=
c.4688C= (p.Ser1563=)
n.5177C=
2g.214980544G>TCA350460897ABCA12c.4679C>A (p.Ser1560Tyr)
c.3725C>A (p.Ser1242Tyr)
n.4979C>A
c.4688C>A (p.Ser1563Tyr)
n.5177C>A
 gnomAD v4
2g.214980545A>CCA350460902ABCA12c.4678T>G (p.Ser1560Ala)
c.3724T>G (p.Ser1242Ala)
n.4978T>G
c.4687T>G (p.Ser1563Ala)
n.5176T>G
2g.214980545A>GCA350460899ABCA12c.4678T>C (p.Ser1560Pro)
c.3724T>C (p.Ser1242Pro)
n.4978T>C
c.4687T>C (p.Ser1563Pro)
n.5176T>C
2g.214980545A>TCA350460900ABCA12c.4678T>A (p.Ser1560Thr)
c.3724T>A (p.Ser1242Thr)
n.4978T>A
c.4687T>A (p.Ser1563Thr)
n.5176T>A
2g.214980546C>ACA431148751ABCA12c.4677G>T (p.Gly1559=)
c.3723G>T (p.Gly1241=)
n.4977G>T
c.4686G>T (p.Gly1562=)
n.5175G>T
 dbSNP gnomAD v2 gnomAD v4
2g.214980546C=CA1327160992ABCA12c.4677G= (p.Gly1559=)
c.3723G= (p.Gly1241=)
n.4977G=
c.4686G= (p.Gly1562=)
n.5175G=
2g.214980546C>GCA431148752ABCA12c.4677G>C (p.Gly1559=)
c.3723G>C (p.Gly1241=)
n.4977G>C
c.4686G>C (p.Gly1562=)
n.5175G>C
2g.214980546C>TCA2091417ABCA12c.4677G>A (p.Gly1559=)
c.3723G>A (p.Gly1241=)
n.4977G>A
c.4686G>A (p.Gly1562=)
n.5175G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214980547C>ACA350460905ABCA12c.4676G>T (p.Gly1559Val)
c.3722G>T (p.Gly1241Val)
n.4976G>T
c.4685G>T (p.Gly1562Val)
n.5174G>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.214980547C=CA1327160993ABCA12c.4676G= (p.Gly1559=)
c.3722G= (p.Gly1241=)
n.4976G=
c.4685G= (p.Gly1562=)
n.5174G=
2g.214980547C>GCA350460907ABCA12c.4676G>C (p.Gly1559Ala)
c.3722G>C (p.Gly1241Ala)
n.4976G>C
c.4685G>C (p.Gly1562Ala)
n.5174G>C
2g.214980547C>TCA350460909ABCA12c.4676G>A (p.Gly1559Glu)
c.3722G>A (p.Gly1241Glu)
n.4976G>A
c.4685G>A (p.Gly1562Glu)
n.5174G>A
 gnomAD v4

Number of alleles fetched