Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.214980523G>A | CA350460800 | ABCA12 | c.4700C>T (p.Ala1567Val) c.3746C>T (p.Ala1249Val) n.5000C>T c.4709C>T (p.Ala1570Val) n.5198C>T | |
2 | g.214980523G>C | CA350460801 | ABCA12 | c.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 |
2 | g.214980523G= | CA1327160982 | ABCA12 | c.4700C= (p.Ala1567=) c.3746C= (p.Ala1249=) n.5000C= c.4709C= (p.Ala1570=) n.5198C= | |
2 | g.214980523G>T | CA350460803 | ABCA12 | c.4700C>A (p.Ala1567Asp) c.3746C>A (p.Ala1249Asp) n.5000C>A c.4709C>A (p.Ala1570Asp) n.5198C>A | gnomAD v4 |
2 | g.214980524C>A | CA350460805 | ABCA12 | c.4699G>T (p.Ala1567Ser) c.3745G>T (p.Ala1249Ser) n.4999G>T c.4708G>T (p.Ala1570Ser) n.5197G>T | |
2 | g.214980524C>G | CA350460807 | ABCA12 | c.4699G>C (p.Ala1567Pro) c.3745G>C (p.Ala1249Pro) n.4999G>C c.4708G>C (p.Ala1570Pro) n.5197G>C | |
2 | g.214980524C>T | CA350460808 | ABCA12 | c.4699G>A (p.Ala1567Thr) c.3745G>A (p.Ala1249Thr) n.4999G>A c.4708G>A (p.Ala1570Thr) n.5197G>A | gnomAD v4 |
2 | g.214980525T>A | CA350460811 | ABCA12 | c.4698A>T (p.Glu1566Asp) c.3744A>T (p.Glu1248Asp) n.4998A>T c.4707A>T (p.Glu1569Asp) n.5196A>T | |
2 | g.214980525T>C | CA431148693 | ABCA12 | c.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 |
2 | g.214980525T>G | CA350460812 | ABCA12 | c.4698A>C (p.Glu1566Asp) c.3744A>C (p.Glu1248Asp) n.4998A>C c.4707A>C (p.Glu1569Asp) n.5196A>C | |
2 | g.214980525T= | CA1327160983 | ABCA12 | c.4698A= (p.Glu1566=) c.3744A= (p.Glu1248=) n.4998A= c.4707A= (p.Glu1569=) n.5196A= | |
2 | g.214980526T>A | CA350460815 | ABCA12 | c.4697A>T (p.Glu1566Val) c.3743A>T (p.Glu1248Val) n.4997A>T c.4706A>T (p.Glu1569Val) n.5195A>T | |
2 | g.214980526T>C | CA64814840 | ABCA12 | c.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 |
2 | g.214980526T>G | CA350460816 | ABCA12 | c.4697A>C (p.Glu1566Ala) c.3743A>C (p.Glu1248Ala) n.4997A>C c.4706A>C (p.Glu1569Ala) n.5195A>C | |
2 | g.214980526T= | CA1327160984 | ABCA12 | c.4697A= (p.Glu1566=) c.3743A= (p.Glu1248=) n.4997A= c.4706A= (p.Glu1569=) n.5195A= | |
2 | g.214980527C>A | CA350460820 | ABCA12 | c.4696G>T (p.Glu1566Ter) c.3742G>T (p.Glu1248Ter) n.4996G>T c.4705G>T (p.Glu1569Ter) n.5194G>T | |
2 | g.214980527C= | CA1327160985 | ABCA12 | c.4696G= (p.Glu1566=) c.3742G= (p.Glu1248=) n.4996G= c.4705G= (p.Glu1569=) n.5194G= | |
2 | g.214980527C>G | CA350460823 | ABCA12 | c.4696G>C (p.Glu1566Gln) c.3742G>C (p.Glu1248Gln) n.4996G>C c.4705G>C (p.Glu1569Gln) n.5194G>C | |
2 | g.214980527C>T | CA64814843 | ABCA12 | c.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 |
2 | g.214980528C>A | CA350460825 | ABCA12 | c.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 |
2 | g.214980528C= | CA1327160986 | ABCA12 | c.4695G= (p.Lys1565=) c.3741G= (p.Lys1247=) n.4995G= c.4704G= (p.Lys1568=) n.5193G= | |
2 | g.214980528C>G | CA350460827 | ABCA12 | c.4695G>C (p.Lys1565Asn) c.3741G>C (p.Lys1247Asn) n.4995G>C c.4704G>C (p.Lys1568Asn) n.5193G>C | |
2 | g.214980528C>T | CA431148702 | ABCA12 | c.4695G>A (p.Lys1565=) c.3741G>A (p.Lys1247=) n.4995G>A c.4704G>A (p.Lys1568=) n.5193G>A | COSMIC COSMIC |
2 | g.214980529T>A | CA350460828 | ABCA12 | c.4694A>T (p.Lys1565Met) c.3740A>T (p.Lys1247Met) n.4994A>T c.4703A>T (p.Lys1568Met) n.5192A>T | |
2 | g.214980529T>C | CA350460830 | ABCA12 | c.4694A>G (p.Lys1565Arg) c.3740A>G (p.Lys1247Arg) n.4994A>G c.4703A>G (p.Lys1568Arg) n.5192A>G | |
2 | g.214980529T>G | CA350460832 | ABCA12 | c.4694A>C (p.Lys1565Thr) c.3740A>C (p.Lys1247Thr) n.4994A>C c.4703A>C (p.Lys1568Thr) n.5192A>C | |
2 | g.214980530T>A | CA350460834 | ABCA12 | c.4693A>T (p.Lys1565Ter) c.3739A>T (p.Lys1247Ter) n.4993A>T c.4702A>T (p.Lys1568Ter) n.5191A>T | |
2 | g.214980530T>C | CA350460836 | ABCA12 | c.4693A>G (p.Lys1565Glu) c.3739A>G (p.Lys1247Glu) n.4993A>G c.4702A>G (p.Lys1568Glu) n.5191A>G | |
2 | g.214980530T>G | CA350460838 | ABCA12 | c.4693A>C (p.Lys1565Gln) c.3739A>C (p.Lys1247Gln) n.4993A>C c.4702A>C (p.Lys1568Gln) n.5191A>C | |
2 | g.214980531G>A | CA2091413 | ABCA12 | c.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 |
2 | g.214980531G>C | CA431148709 | ABCA12 | c.4692C>G (p.Leu1564=) c.3738C>G (p.Leu1246=) n.4992C>G c.4701C>G (p.Leu1567=) n.5190C>G | gnomAD v4 |
2 | g.214980531G= | CA1327160987 | ABCA12 | c.4692C= (p.Leu1564=) c.3738C= (p.Leu1246=) n.4992C= c.4701C= (p.Leu1567=) n.5190C= | |
2 | g.214980531G>T | CA2091414 | ABCA12 | c.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 |
2 | g.214980532A>C | CA350460840 | ABCA12 | c.4691T>G (p.Leu1564Arg) c.3737T>G (p.Leu1246Arg) n.4991T>G c.4700T>G (p.Leu1567Arg) n.5189T>G | |
2 | g.214980532A>G | CA350460841 | ABCA12 | c.4691T>C (p.Leu1564Pro) c.3737T>C (p.Leu1246Pro) n.4991T>C c.4700T>C (p.Leu1567Pro) n.5189T>C | |
2 | g.214980532A>T | CA350460842 | ABCA12 | c.4691T>A (p.Leu1564His) c.3737T>A (p.Leu1246His) n.4991T>A c.4700T>A (p.Leu1567His) n.5189T>A | |
2 | g.214980533G>A | CA350460848 | ABCA12 | c.4690C>T (p.Leu1564Phe) c.3736C>T (p.Leu1246Phe) n.4990C>T c.4699C>T (p.Leu1567Phe) n.5188C>T | |
2 | g.214980533G>C | CA350460846 | ABCA12 | c.4690C>G (p.Leu1564Val) c.3736C>G (p.Leu1246Val) n.4990C>G c.4699C>G (p.Leu1567Val) n.5188C>G | |
2 | g.214980533G>T | CA350460844 | ABCA12 | c.4690C>A (p.Leu1564Ile) c.3736C>A (p.Leu1246Ile) n.4990C>A c.4699C>A (p.Leu1567Ile) n.5188C>A | |
2 | g.214980534G>A | CA2091415 | ABCA12 | c.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 |
2 | g.214980534G>C | CA350460851 | ABCA12 | c.4689C>G (p.Tyr1563Ter) c.3735C>G (p.Tyr1245Ter) n.4989C>G c.4698C>G (p.Tyr1566Ter) n.5187C>G | |
2 | g.214980534G= | CA1327160988 | ABCA12 | c.4689C= (p.Tyr1563=) c.3735C= (p.Tyr1245=) n.4989C= c.4698C= (p.Tyr1566=) n.5187C= | |
2 | g.214980534G>T | CA350460853 | ABCA12 | c.4689C>A (p.Tyr1563Ter) c.3735C>A (p.Tyr1245Ter) n.4989C>A c.4698C>A (p.Tyr1566Ter) n.5187C>A | |
2 | g.214980535T>A | CA350460855 | ABCA12 | c.4688A>T (p.Tyr1563Phe) c.3734A>T (p.Tyr1245Phe) n.4988A>T c.4697A>T (p.Tyr1566Phe) n.5186A>T | |
2 | g.214980535T>C | CA2091416 | ABCA12 | c.4688A>G (p.Tyr1563Cys) c.3734A>G (p.Tyr1245Cys) n.4988A>G c.4697A>G (p.Tyr1566Cys) n.5186A>G | dbSNP ExAC gnomAD v2 |
2 | g.214980535T>G | CA350460858 | ABCA12 | c.4688A>C (p.Tyr1563Ser) c.3734A>C (p.Tyr1245Ser) n.4988A>C c.4697A>C (p.Tyr1566Ser) n.5186A>C | |
2 | g.214980535T= | CA1327160989 | ABCA12 | c.4688A= (p.Tyr1563=) c.3734A= (p.Tyr1245=) n.4988A= c.4697A= (p.Tyr1566=) n.5186A= | |
2 | g.214980536A>C | CA350460860 | ABCA12 | c.4687T>G (p.Tyr1563Asp) c.3733T>G (p.Tyr1245Asp) n.4987T>G c.4696T>G (p.Tyr1566Asp) n.5185T>G | |
2 | g.214980536A>G | CA350460862 | ABCA12 | c.4687T>C (p.Tyr1563His) c.3733T>C (p.Tyr1245His) n.4987T>C c.4696T>C (p.Tyr1566His) n.5185T>C | gnomAD v4 |
2 | g.214980536A>T | CA350460864 | ABCA12 | c.4687T>A (p.Tyr1563Asn) c.3733T>A (p.Tyr1245Asn) n.4987T>A c.4696T>A (p.Tyr1566Asn) n.5185T>A | |
2 | g.214980537A>C | CA350460866 | ABCA12 | c.4686T>G (p.Phe1562Leu) c.3732T>G (p.Phe1244Leu) n.4986T>G c.4695T>G (p.Phe1565Leu) n.5184T>G | |
2 | g.214980537A>G | CA431148727 | ABCA12 | c.4686T>C (p.Phe1562=) c.3732T>C (p.Phe1244=) n.4986T>C c.4695T>C (p.Phe1565=) n.5184T>C | |
2 | g.214980537A>T | CA350460868 | ABCA12 | c.4686T>A (p.Phe1562Leu) c.3732T>A (p.Phe1244Leu) n.4986T>A c.4695T>A (p.Phe1565Leu) n.5184T>A | |
2 | g.214980538A>C | CA350460874 | ABCA12 | c.4685T>G (p.Phe1562Cys) c.3731T>G (p.Phe1244Cys) n.4985T>G c.4694T>G (p.Phe1565Cys) n.5183T>G | gnomAD v4 |
2 | g.214980538A>G | CA350460872 | ABCA12 | c.4685T>C (p.Phe1562Ser) c.3731T>C (p.Phe1244Ser) n.4985T>C c.4694T>C (p.Phe1565Ser) n.5183T>C | |
2 | g.214980538A>T | CA350460870 | ABCA12 | c.4685T>A (p.Phe1562Tyr) c.3731T>A (p.Phe1244Tyr) n.4985T>A c.4694T>A (p.Phe1565Tyr) n.5183T>A | |
2 | g.214980539A>C | CA350460876 | ABCA12 | c.4684T>G (p.Phe1562Val) c.3730T>G (p.Phe1244Val) n.4984T>G c.4693T>G (p.Phe1565Val) n.5182T>G | |
2 | g.214980539A>G | CA350460878 | ABCA12 | c.4684T>C (p.Phe1562Leu) c.3730T>C (p.Phe1244Leu) n.4984T>C c.4693T>C (p.Phe1565Leu) n.5182T>C | |
2 | g.214980539A>T | CA350460880 | ABCA12 | c.4684T>A (p.Phe1562Ile) c.3730T>A (p.Phe1244Ile) n.4984T>A c.4693T>A (p.Phe1565Ile) n.5182T>A | |
2 | g.214980540T>A | CA431148732 | ABCA12 | c.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 |
2 | g.214980540T>C | CA431148734 | ABCA12 | c.4683A>G (p.Pro1561=) c.3729A>G (p.Pro1243=) n.4983A>G c.4692A>G (p.Pro1564=) n.5181A>G | |
2 | g.214980540T>G | CA431148735 | ABCA12 | c.4683A>C (p.Pro1561=) c.3729A>C (p.Pro1243=) n.4983A>C c.4692A>C (p.Pro1564=) n.5181A>C | |
2 | g.214980540T= | CA1327160990 | ABCA12 | c.4683A= (p.Pro1561=) c.3729A= (p.Pro1243=) n.4983A= c.4692A= (p.Pro1564=) n.5181A= | |
2 | g.214980541G>A | CA350460881 | ABCA12 | c.4682C>T (p.Pro1561Leu) c.3728C>T (p.Pro1243Leu) n.4982C>T c.4691C>T (p.Pro1564Leu) n.5180C>T | |
2 | g.214980541G>C | CA350460883 | ABCA12 | c.4682C>G (p.Pro1561Arg) c.3728C>G (p.Pro1243Arg) n.4982C>G c.4691C>G (p.Pro1564Arg) n.5180C>G | gnomAD v4 |
2 | g.214980541G>T | CA350460885 | ABCA12 | c.4682C>A (p.Pro1561Gln) c.3728C>A (p.Pro1243Gln) n.4982C>A c.4691C>A (p.Pro1564Gln) n.5180C>A | |
2 | g.214980542G>A | CA350460886 | ABCA12 | c.4681C>T (p.Pro1561Ser) c.3727C>T (p.Pro1243Ser) n.4981C>T c.4690C>T (p.Pro1564Ser) n.5179C>T | |
2 | g.214980542G>C | CA350460888 | ABCA12 | c.4681C>G (p.Pro1561Ala) c.3727C>G (p.Pro1243Ala) n.4981C>G c.4690C>G (p.Pro1564Ala) n.5179C>G | |
2 | g.214980542G>T | CA350460890 | ABCA12 | c.4681C>A (p.Pro1561Thr) c.3727C>A (p.Pro1243Thr) n.4981C>A c.4690C>A (p.Pro1564Thr) n.5179C>A | |
2 | g.214980543G>A | CA431148742 | ABCA12 | c.4680C>T (p.Ser1560=) c.3726C>T (p.Ser1242=) n.4980C>T c.4689C>T (p.Ser1563=) n.5178C>T | |
2 | g.214980543G>C | CA431148744 | ABCA12 | c.4680C>G (p.Ser1560=) c.3726C>G (p.Ser1242=) n.4980C>G c.4689C>G (p.Ser1563=) n.5178C>G | |
2 | g.214980543G>T | CA431148746 | ABCA12 | c.4680C>A (p.Ser1560=) c.3726C>A (p.Ser1242=) n.4980C>A c.4689C>A (p.Ser1563=) n.5178C>A | |
2 | g.214980544G>A | CA350460893 | ABCA12 | c.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 |
2 | g.214980544G>C | CA350460895 | ABCA12 | c.4679C>G (p.Ser1560Cys) c.3725C>G (p.Ser1242Cys) n.4979C>G c.4688C>G (p.Ser1563Cys) n.5177C>G | |
2 | g.214980544G= | CA1327160991 | ABCA12 | c.4679C= (p.Ser1560=) c.3725C= (p.Ser1242=) n.4979C= c.4688C= (p.Ser1563=) n.5177C= | |
2 | g.214980544G>T | CA350460897 | ABCA12 | c.4679C>A (p.Ser1560Tyr) c.3725C>A (p.Ser1242Tyr) n.4979C>A c.4688C>A (p.Ser1563Tyr) n.5177C>A | gnomAD v4 |
2 | g.214980545A>C | CA350460902 | ABCA12 | c.4678T>G (p.Ser1560Ala) c.3724T>G (p.Ser1242Ala) n.4978T>G c.4687T>G (p.Ser1563Ala) n.5176T>G | |
2 | g.214980545A>G | CA350460899 | ABCA12 | c.4678T>C (p.Ser1560Pro) c.3724T>C (p.Ser1242Pro) n.4978T>C c.4687T>C (p.Ser1563Pro) n.5176T>C | |
2 | g.214980545A>T | CA350460900 | ABCA12 | c.4678T>A (p.Ser1560Thr) c.3724T>A (p.Ser1242Thr) n.4978T>A c.4687T>A (p.Ser1563Thr) n.5176T>A | |
2 | g.214980546C>A | CA431148751 | ABCA12 | c.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 |
2 | g.214980546C= | CA1327160992 | ABCA12 | c.4677G= (p.Gly1559=) c.3723G= (p.Gly1241=) n.4977G= c.4686G= (p.Gly1562=) n.5175G= | |
2 | g.214980546C>G | CA431148752 | ABCA12 | c.4677G>C (p.Gly1559=) c.3723G>C (p.Gly1241=) n.4977G>C c.4686G>C (p.Gly1562=) n.5175G>C | |
2 | g.214980546C>T | CA2091417 | ABCA12 | c.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 |
2 | g.214980547C>A | CA350460905 | ABCA12 | c.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 |
2 | g.214980547C= | CA1327160993 | ABCA12 | c.4676G= (p.Gly1559=) c.3722G= (p.Gly1241=) n.4976G= c.4685G= (p.Gly1562=) n.5174G= | |
2 | g.214980547C>G | CA350460907 | ABCA12 | c.4676G>C (p.Gly1559Ala) c.3722G>C (p.Gly1241Ala) n.4976G>C c.4685G>C (p.Gly1562Ala) n.5174G>C | |
2 | g.214980547C>T | CA350460909 | ABCA12 | c.4676G>A (p.Gly1559Glu) c.3722G>A (p.Gly1241Glu) n.4976G>A c.4685G>A (p.Gly1562Glu) n.5174G>A | gnomAD v4 |
2 | g.214980548C>A | CA350460911 | ABCA12 | c.4675G>T (p.Gly1559Trp) c.3721G>T (p.Gly1241Trp) n.4975G>T c.4684G>T (p.Gly1562Trp) n.5173G>T | |
2 | g.214980548C>G | CA350460913 | ABCA12 | c.4675G>C (p.Gly1559Arg) c.3721G>C (p.Gly1241Arg) n.4975G>C c.4684G>C (p.Gly1562Arg) n.5173G>C | |
2 | g.214980548C>T | CA350460915 | ABCA12 | c.4675G>A (p.Gly1559Arg) c.3721G>A (p.Gly1241Arg) n.4975G>A c.4684G>A (p.Gly1562Arg) n.5173G>A | gnomAD v4 |
2 | g.214980549A>C | CA350460917 | ABCA12 | c.4674T>G (p.Cys1558Trp) c.3720T>G (p.Cys1240Trp) n.4974T>G c.4683T>G (p.Cys1561Trp) n.5172T>G | |
2 | g.214980549A>G | CA431148765 | ABCA12 | c.4674T>C (p.Cys1558=) c.3720T>C (p.Cys1240=) n.4974T>C c.4683T>C (p.Cys1561=) n.5172T>C | gnomAD v4 |
2 | g.214980549A>T | CA350460919 | ABCA12 | c.4674T>A (p.Cys1558Ter) c.3720T>A (p.Cys1240Ter) n.4974T>A c.4683T>A (p.Cys1561Ter) n.5172T>A | |
2 | g.214980550C>A | CA350460921 | ABCA12 | c.4673G>T (p.Cys1558Phe) c.3719G>T (p.Cys1240Phe) n.4973G>T c.4682G>T (p.Cys1561Phe) n.5171G>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.214980550C= | CA1327160994 | ABCA12 | c.4673G= (p.Cys1558=) c.3719G= (p.Cys1240=) n.4973G= c.4682G= (p.Cys1561=) n.5171G= | |
2 | g.214980550C>G | CA350460923 | ABCA12 | c.4673G>C (p.Cys1558Ser) c.3719G>C (p.Cys1240Ser) n.4973G>C c.4682G>C (p.Cys1561Ser) n.5171G>C | |
2 | g.214980550C>T | CA350460925 | ABCA12 | c.4673G>A (p.Cys1558Tyr) c.3719G>A (p.Cys1240Tyr) n.4973G>A c.4682G>A (p.Cys1561Tyr) n.5171G>A | |
2 | g.214980551A>C | CA350460929 | ABCA12 | c.4672T>G (p.Cys1558Gly) c.3718T>G (p.Cys1240Gly) n.4972T>G c.4681T>G (p.Cys1561Gly) n.5170T>G | |
2 | g.214980551A>G | CA350460930 | ABCA12 | c.4672T>C (p.Cys1558Arg) c.3718T>C (p.Cys1240Arg) n.4972T>C c.4681T>C (p.Cys1561Arg) n.5170T>C | |
2 | g.214980551A>T | CA350460927 | ABCA12 | c.4672T>A (p.Cys1558Ser) c.3718T>A (p.Cys1240Ser) n.4972T>A c.4681T>A (p.Cys1561Ser) n.5170T>A | |
2 | g.214980552G>A | CA431148775 | ABCA12 | c.4671C>T (p.Cys1557=) c.3717C>T (p.Cys1239=) n.4971C>T c.4680C>T (p.Cys1560=) n.5169C>T | dbSNP |
2 | g.214980552G>C | CA350460935 | ABCA12 | c.4671C>G (p.Cys1557Trp) c.3717C>G (p.Cys1239Trp) n.4971C>G c.4680C>G (p.Cys1560Trp) n.5169C>G | |
2 | g.214980552G= | CA1327160995 | ABCA12 | c.4671C= (p.Cys1557=) c.3717C= (p.Cys1239=) n.4971C= c.4680C= (p.Cys1560=) n.5169C= | |
2 | g.214980552G>T | CA350460933 | ABCA12 | c.4671C>A (p.Cys1557Ter) c.3717C>A (p.Cys1239Ter) n.4971C>A c.4680C>A (p.Cys1560Ter) n.5169C>A | |
2 | g.214980553C>A | CA350460937 | ABCA12 | c.4670G>T (p.Cys1557Phe) c.3716G>T (p.Cys1239Phe) n.4970G>T c.4679G>T (p.Cys1560Phe) n.5168G>T | |
2 | g.214980553C= | CA1327160996 | ABCA12 | c.4670G= (p.Cys1557=) c.3716G= (p.Cys1239=) n.4970G= c.4679G= (p.Cys1560=) n.5168G= | |
2 | g.214980553C>G | CA350460939 | ABCA12 | c.4670G>C (p.Cys1557Ser) c.3716G>C (p.Cys1239Ser) n.4970G>C c.4679G>C (p.Cys1560Ser) n.5168G>C | |
2 | g.214980553C>T | CA350460941 | ABCA12 | c.4670G>A (p.Cys1557Tyr) c.3716G>A (p.Cys1239Tyr) n.4970G>A c.4679G>A (p.Cys1560Tyr) n.5168G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214980554A= | CA1327160997 | ABCA12 | c.4669T= (p.Cys1557=) c.3715T= (p.Cys1239=) n.4969T= c.4678T= (p.Cys1560=) n.5167T= | |
2 | g.214980554A>C | CA350460943 | ABCA12 | c.4669T>G (p.Cys1557Gly) c.3715T>G (p.Cys1239Gly) n.4969T>G c.4678T>G (p.Cys1560Gly) n.5167T>G | |
2 | g.214980554A>G | CA350460944 | ABCA12 | c.4669T>C (p.Cys1557Arg) c.3715T>C (p.Cys1239Arg) n.4969T>C c.4678T>C (p.Cys1560Arg) n.5167T>C | dbSNP |
2 | g.214980554A>T | CA350460946 | ABCA12 | c.4669T>A (p.Cys1557Ser) c.3715T>A (p.Cys1239Ser) n.4969T>A c.4678T>A (p.Cys1560Ser) n.5167T>A | |
2 | g.214980555C>A | CA350460948 | ABCA12 | c.4668G>T (p.Arg1556Ser) c.3714G>T (p.Arg1238Ser) n.4968G>T c.4677G>T (p.Arg1559Ser) n.5166G>T | gnomAD v4 |
2 | g.214980555C>G | CA350460949 | ABCA12 | c.4668G>C (p.Arg1556Ser) c.3714G>C (p.Arg1238Ser) n.4968G>C c.4677G>C (p.Arg1559Ser) n.5166G>C | |
2 | g.214980555C>T | CA431148784 | ABCA12 | c.4668G>A (p.Arg1556=) c.3714G>A (p.Arg1238=) n.4968G>A c.4677G>A (p.Arg1559=) n.5166G>A | |
2 | g.214980556C>A | CA350460952 | ABCA12 | c.4667G>T (p.Arg1556Met) c.3713G>T (p.Arg1238Met) n.4967G>T c.4676G>T (p.Arg1559Met) n.5165G>T | |
2 | g.214980556C= | CA1327160998 | ABCA12 | c.4667G= (p.Arg1556=) c.3713G= (p.Arg1238=) n.4967G= c.4676G= (p.Arg1559=) n.5165G= | |
2 | g.214980556C>G | CA350460954 | ABCA12 | c.4667G>C (p.Arg1556Thr) c.3713G>C (p.Arg1238Thr) n.4967G>C c.4676G>C (p.Arg1559Thr) n.5165G>C | gnomAD v4 |
2 | g.214980556C>T | CA350460955 | ABCA12 | c.4667G>A (p.Arg1556Lys) c.3713G>A (p.Arg1238Lys) n.4967G>A c.4676G>A (p.Arg1559Lys) n.5165G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214980557T>A | CA350460960 | ABCA12 | c.4666A>T (p.Arg1556Trp) c.3712A>T (p.Arg1238Trp) n.4966A>T c.4675A>T (p.Arg1559Trp) n.5164A>T | |
2 | g.214980557T>C | CA350460958 | ABCA12 | c.4666A>G (p.Arg1556Gly) c.3712A>G (p.Arg1238Gly) n.4966A>G c.4675A>G (p.Arg1559Gly) n.5164A>G | |
2 | g.214980557T>G | CA2091418 | ABCA12 | c.4666A>C (p.Arg1556=) c.3712A>C (p.Arg1238=) n.4966A>C c.4675A>C (p.Arg1559=) n.5164A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.214980557T= | CA1327160999 | ABCA12 | c.4666A= (p.Arg1556=) c.3712A= (p.Arg1238=) n.4966A= c.4675A= (p.Arg1559=) n.5164A= | |
2 | g.214980558A>C | CA431148790 | ABCA12 | c.4665T>G (p.Leu1555=) c.3711T>G (p.Leu1237=) n.4965T>G c.4674T>G (p.Leu1558=) n.5163T>G | |
2 | g.214980558A>G | CA431148791 | ABCA12 | c.4665T>C (p.Leu1555=) c.3711T>C (p.Leu1237=) n.4965T>C c.4674T>C (p.Leu1558=) n.5163T>C | gnomAD v4 |
2 | g.214980558A>T | CA431148797 | ABCA12 | c.4665T>A (p.Leu1555=) c.3711T>A (p.Leu1237=) n.4965T>A c.4674T>A (p.Leu1558=) n.5163T>A | |
2 | g.214980559A>C | CA350460963 | ABCA12 | c.4664T>G (p.Leu1555Arg) c.3710T>G (p.Leu1237Arg) n.4964T>G c.4673T>G (p.Leu1558Arg) n.5162T>G | COSMIC |
2 | g.214980559A>G | CA350460964 | ABCA12 | c.4664T>C (p.Leu1555Pro) c.3710T>C (p.Leu1237Pro) n.4964T>C c.4673T>C (p.Leu1558Pro) n.5162T>C | |
2 | g.214980559A>T | CA350460965 | ABCA12 | c.4664T>A (p.Leu1555His) c.3710T>A (p.Leu1237His) n.4964T>A c.4673T>A (p.Leu1558His) n.5162T>A | |
2 | g.214980560G>A | CA350460967 | ABCA12 | c.4663C>T (p.Leu1555Phe) c.3709C>T (p.Leu1237Phe) n.4963C>T c.4672C>T (p.Leu1558Phe) n.5161C>T | gnomAD v4 |
2 | g.214980560G>C | CA350460969 | ABCA12 | c.4663C>G (p.Leu1555Val) c.3709C>G (p.Leu1237Val) n.4963C>G c.4672C>G (p.Leu1558Val) n.5161C>G | |
2 | g.214980560G= | CA1327161000 | ABCA12 | c.4663C= (p.Leu1555=) c.3709C= (p.Leu1237=) n.4963C= c.4672C= (p.Leu1558=) n.5161C= | |
2 | g.214980560G>T | CA64814875 | ABCA12 | c.4663C>A (p.Leu1555Ile) c.3709C>A (p.Leu1237Ile) n.4963C>A c.4672C>A (p.Leu1558Ile) n.5161C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214980561C>A | CA431148811 | ABCA12 | c.4662G>T (p.Gly1554=) c.3708G>T (p.Gly1236=) n.4962G>T c.4671G>T (p.Gly1557=) n.5160G>T | |
2 | g.214980561C>G | CA431148813 | ABCA12 | c.4662G>C (p.Gly1554=) c.3708G>C (p.Gly1236=) n.4962G>C c.4671G>C (p.Gly1557=) n.5160G>C | |
2 | g.214980561C>T | CA431148814 | ABCA12 | c.4662G>A (p.Gly1554=) c.3708G>A (p.Gly1236=) n.4962G>A c.4671G>A (p.Gly1557=) n.5160G>A | |
2 | g.214980564_214980567del | CA2662978475 | ABCA12 | c.4659_4662del (p.Gly1554LeufsTer?) c.3705_3708del (p.Gly1236LeufsTer?) n.4959_4962del c.4668_4671del (p.Gly1557LeufsTer?) n.5157_5160del | gnomAD v4 |
2 | g.214980562C>A | CA350460972 | ABCA12 | c.4661G>T (p.Gly1554Val) c.3707G>T (p.Gly1236Val) n.4961G>T c.4670G>T (p.Gly1557Val) n.5159G>T | |
2 | g.214980562C>G | CA350460974 | ABCA12 | c.4661G>C (p.Gly1554Ala) c.3707G>C (p.Gly1236Ala) n.4961G>C c.4670G>C (p.Gly1557Ala) n.5159G>C | |
2 | g.214980562C>T | CA350460975 | ABCA12 | c.4661G>A (p.Gly1554Glu) c.3707G>A (p.Gly1236Glu) n.4961G>A c.4670G>A (p.Gly1557Glu) n.5159G>A | |
2 | g.214980563C>A | CA350460978 | ABCA12 | c.4660G>T (p.Gly1554Trp) c.3706G>T (p.Gly1236Trp) n.4960G>T c.4669G>T (p.Gly1557Trp) n.5158G>T | |
2 | g.214980563C= | CA1327161001 | ABCA12 | c.4660G= (p.Gly1554=) c.3706G= (p.Gly1236=) n.4960G= c.4669G= (p.Gly1557=) n.5158G= | |
2 | g.214980563C>G | CA350460980 | ABCA12 | c.4660G>C (p.Gly1554Arg) c.3706G>C (p.Gly1236Arg) n.4960G>C c.4669G>C (p.Gly1557Arg) n.5158G>C | |
2 | g.214980563C>T | CA2091419 | ABCA12 | c.4660G>A (p.Gly1554Arg) c.3706G>A (p.Gly1236Arg) n.4960G>A c.4669G>A (p.Gly1557Arg) n.5158G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214980564A>C | CA431148824 | ABCA12 | c.4659T>G (p.Gly1553=) c.3705T>G (p.Gly1235=) n.4959T>G c.4668T>G (p.Gly1556=) n.5157T>G | |
2 | g.214980564A>G | CA431148826 | ABCA12 | c.4659T>C (p.Gly1553=) c.3705T>C (p.Gly1235=) n.4959T>C c.4668T>C (p.Gly1556=) n.5157T>C | |
2 | g.214980564A>T | CA431148828 | ABCA12 | c.4659T>A (p.Gly1553=) c.3705T>A (p.Gly1235=) n.4959T>A c.4668T>A (p.Gly1556=) n.5157T>A | gnomAD v4 |
2 | g.214980565C>A | CA350460984 | ABCA12 | c.4658G>T (p.Gly1553Val) c.3704G>T (p.Gly1235Val) n.4958G>T c.4667G>T (p.Gly1556Val) n.5156G>T | |
2 | g.214980565C= | CA1327161002 | ABCA12 | c.4658G= (p.Gly1553=) c.3704G= (p.Gly1235=) n.4958G= c.4667G= (p.Gly1556=) n.5156G= | |
2 | g.214980565C>G | CA350460985 | ABCA12 | c.4658G>C (p.Gly1553Ala) c.3704G>C (p.Gly1235Ala) n.4958G>C c.4667G>C (p.Gly1556Ala) n.5156G>C | |
2 | g.214980565C>T | CA350460983 | ABCA12 | c.4658G>A (p.Gly1553Asp) c.3704G>A (p.Gly1235Asp) n.4958G>A c.4667G>A (p.Gly1556Asp) n.5156G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214980566C>A | CA350460988 | ABCA12 | c.4657G>T (p.Gly1553Cys) c.3703G>T (p.Gly1235Cys) n.4957G>T c.4666G>T (p.Gly1556Cys) n.5155G>T | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.214980566C= | CA1327161003 | ABCA12 | c.4657G= (p.Gly1553=) c.3703G= (p.Gly1235=) n.4957G= c.4666G= (p.Gly1556=) n.5155G= | |
2 | g.214980566C>G | CA350460990 | ABCA12 | c.4657G>C (p.Gly1553Arg) c.3703G>C (p.Gly1235Arg) n.4957G>C c.4666G>C (p.Gly1556Arg) n.5155G>C | dbSNP |
2 | g.214980566C>T | CA350460992 | ABCA12 | c.4657G>A (p.Gly1553Ser) c.3703G>A (p.Gly1235Ser) n.4957G>A c.4666G>A (p.Gly1556Ser) n.5155G>A | |
2 | g.214980567C>A | CA350460994 | ABCA12 | c.4656G>T (p.Gln1552His) c.3702G>T (p.Gln1234His) n.4956G>T c.4665G>T (p.Gln1555His) n.5154G>T | |
2 | g.214980567C>G | CA350460996 | ABCA12 | c.4656G>C (p.Gln1552His) c.3702G>C (p.Gln1234His) n.4956G>C c.4665G>C (p.Gln1555His) n.5154G>C | |
2 | g.214980567C>T | CA431148839 | ABCA12 | c.4656G>A (p.Gln1552=) c.3702G>A (p.Gln1234=) n.4956G>A c.4665G>A (p.Gln1555=) n.5154G>A | |
2 | g.214980568T>A | CA350460998 | ABCA12 | c.4655A>T (p.Gln1552Leu) c.3701A>T (p.Gln1234Leu) n.4955A>T c.4664A>T (p.Gln1555Leu) n.5153A>T | dbSNP |
2 | g.214980568T>C | CA2091420 | ABCA12 | c.4655A>G (p.Gln1552Arg) c.3701A>G (p.Gln1234Arg) n.4955A>G c.4664A>G (p.Gln1555Arg) n.5153A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214980568T>G | CA350461002 | ABCA12 | c.4655A>C (p.Gln1552Pro) c.3701A>C (p.Gln1234Pro) n.4955A>C c.4664A>C (p.Gln1555Pro) n.5153A>C | |
2 | g.214980568T= | CA1327161004 | ABCA12 | c.4655A= (p.Gln1552=) c.3701A= (p.Gln1234=) n.4955A= c.4664A= (p.Gln1555=) n.5153A= | |
2 | g.214980569G>A | CA350461003 | ABCA12 | c.4654C>T (p.Gln1552Ter) c.3700C>T (p.Gln1234Ter) n.4954C>T c.4663C>T (p.Gln1555Ter) n.5152C>T | |
2 | g.214980569G>C | CA350461005 | ABCA12 | c.4654C>G (p.Gln1552Glu) c.3700C>G (p.Gln1234Glu) n.4954C>G c.4663C>G (p.Gln1555Glu) n.5152C>G | |
2 | g.214980569G>T | CA350461007 | ABCA12 | c.4654C>A (p.Gln1552Lys) c.3700C>A (p.Gln1234Lys) n.4954C>A c.4663C>A (p.Gln1555Lys) n.5152C>A | |
2 | g.214980570C>A | CA2091421 | ABCA12 | c.4653G>T (p.Glu1551Asp) c.3699G>T (p.Glu1233Asp) n.4953G>T c.4662G>T (p.Glu1554Asp) n.5151G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214980570C= | CA1327161005 | ABCA12 | c.4653G= (p.Glu1551=) c.3699G= (p.Glu1233=) n.4953G= c.4662G= (p.Glu1554=) n.5151G= | |
2 | g.214980570C>G | CA350461009 | ABCA12 | c.4653G>C (p.Glu1551Asp) c.3699G>C (p.Glu1233Asp) n.4953G>C c.4662G>C (p.Glu1554Asp) n.5151G>C | |
2 | g.214980570C>T | CA431148845 | ABCA12 | c.4653G>A (p.Glu1551=) c.3699G>A (p.Glu1233=) n.4953G>A c.4662G>A (p.Glu1554=) n.5151G>A | ClinVar COSMIC COSMIC |
2 | g.214980571T>A | CA350461015 | ABCA12 | c.4652A>T (p.Glu1551Val) c.3698A>T (p.Glu1233Val) n.4952A>T c.4661A>T (p.Glu1554Val) n.5150A>T | |
2 | g.214980571T>C | CA350461012 | ABCA12 | c.4652A>G (p.Glu1551Gly) c.3698A>G (p.Glu1233Gly) n.4952A>G c.4661A>G (p.Glu1554Gly) n.5150A>G | |
2 | g.214980571T>G | CA350461011 | ABCA12 | c.4652A>C (p.Glu1551Ala) c.3698A>C (p.Glu1233Ala) n.4952A>C c.4661A>C (p.Glu1554Ala) n.5150A>C | |
2 | g.214980572C>A | CA350461016 | ABCA12 | c.4651G>T (p.Glu1551Ter) c.3697G>T (p.Glu1233Ter) n.4951G>T c.4660G>T (p.Glu1554Ter) n.5149G>T | |
2 | g.214980572C= | CA1327161006 | ABCA12 | c.4651G= (p.Glu1551=) c.3697G= (p.Glu1233=) n.4951G= c.4660G= (p.Glu1554=) n.5149G= | |
2 | g.214980572C>G | CA350461017 | ABCA12 | c.4651G>C (p.Glu1551Gln) c.3697G>C (p.Glu1233Gln) n.4951G>C c.4660G>C (p.Glu1554Gln) n.5149G>C | |
2 | g.214980572C>T | CA350461020 | ABCA12 | c.4651G>A (p.Glu1551Lys) c.3697G>A (p.Glu1233Lys) n.4951G>A c.4660G>A (p.Glu1554Lys) n.5149G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214980573C>A | CA431148856 | ABCA12 | c.4650G>T (p.Leu1550=) c.3696G>T (p.Leu1232=) n.4950G>T c.4659G>T (p.Leu1553=) n.5148G>T | |
2 | g.214980573C>G | CA431148857 | ABCA12 | c.4650G>C (p.Leu1550=) c.3696G>C (p.Leu1232=) n.4950G>C c.4659G>C (p.Leu1553=) n.5148G>C | gnomAD v4 |
2 | g.214980573C>T | CA431148859 | ABCA12 | c.4650G>A (p.Leu1550=) c.3696G>A (p.Leu1232=) n.4950G>A c.4659G>A (p.Leu1553=) n.5148G>A | |
2 | g.214980574A>C | CA350461022 | ABCA12 | c.4649T>G (p.Leu1550Arg) c.3695T>G (p.Leu1232Arg) n.4949T>G c.4658T>G (p.Leu1553Arg) n.5147T>G | |
2 | g.214980574A>G | CA350461023 | ABCA12 | c.4649T>C (p.Leu1550Pro) c.3695T>C (p.Leu1232Pro) n.4949T>C c.4658T>C (p.Leu1553Pro) n.5147T>C | |
2 | g.214980574A>T | CA350461025 | ABCA12 | c.4649T>A (p.Leu1550Gln) c.3695T>A (p.Leu1232Gln) n.4949T>A c.4658T>A (p.Leu1553Gln) n.5147T>A | |
2 | g.214980575G>A | CA431148863 | ABCA12 | c.4648C>T (p.Leu1550=) c.3694C>T (p.Leu1232=) n.4948C>T c.4657C>T (p.Leu1553=) n.5146C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214980575G>C | CA350461026 | ABCA12 | c.4648C>G (p.Leu1550Val) c.3694C>G (p.Leu1232Val) n.4948C>G c.4657C>G (p.Leu1553Val) n.5146C>G | |
2 | g.214980575G= | CA1327161007 | ABCA12 | c.4648C= (p.Leu1550=) c.3694C= (p.Leu1232=) n.4948C= c.4657C= (p.Leu1553=) n.5146C= | |
2 | g.214980575G>T | CA350461028 | ABCA12 | c.4648C>A (p.Leu1550Met) c.3694C>A (p.Leu1232Met) n.4948C>A c.4657C>A (p.Leu1553Met) n.5146C>A | |
2 | g.214980576G>A | CA431148865 | ABCA12 | c.4647C>T (p.Phe1549=) c.3693C>T (p.Phe1231=) n.4947C>T c.4656C>T (p.Phe1552=) n.5145C>T | |
2 | g.214980576G>C | CA350461029 | ABCA12 | c.4647C>G (p.Phe1549Leu) c.3693C>G (p.Phe1231Leu) n.4947C>G c.4656C>G (p.Phe1552Leu) n.5145C>G | |
2 | g.214980576G>T | CA350461031 | ABCA12 | c.4647C>A (p.Phe1549Leu) c.3693C>A (p.Phe1231Leu) n.4947C>A c.4656C>A (p.Phe1552Leu) n.5145C>A | |
2 | g.214980577A= | CA1327161008 | ABCA12 | c.4646T= (p.Phe1549=) c.3692T= (p.Phe1231=) n.4946T= c.4655T= (p.Phe1552=) n.5144T= | |
2 | g.214980577A>C | CA350461034 | ABCA12 | c.4646T>G (p.Phe1549Cys) c.3692T>G (p.Phe1231Cys) n.4946T>G c.4655T>G (p.Phe1552Cys) n.5144T>G | |
2 | g.214980577A>G | CA350461036 | ABCA12 | c.4646T>C (p.Phe1549Ser) c.3692T>C (p.Phe1231Ser) n.4946T>C c.4655T>C (p.Phe1552Ser) n.5144T>C | |
2 | g.214980577A>T | CA350461037 | ABCA12 | c.4646T>A (p.Phe1549Tyr) c.3692T>A (p.Phe1231Tyr) n.4946T>A c.4655T>A (p.Phe1552Tyr) n.5144T>A | |
2 | g.214980577_214980578insGGTAGTTGAAAACTTCCTAATAGCATATACATCTTGCACAGTATTTTT | CA2091422 | ABCA12 | c.4645_4646insAAAAATACTGTGCAAGATGTATATGCTATTAGGAAGTTTTCAACTACC (p.Phe1549Ter) c.3691_3692insAAAAATACTGTGCAAGATGTATATGCTATTAGGAAGTTTTCAACTACC (p.Phe1231Ter) n.4945_4946insAAAAATACTGTGCAAGATGTATATGCTATTAGGAAGTTTTCAACTACC c.4654_4655insAAAAATACTGTGCAAGATGTATATGCTATTAGGAAGTTTTCAACTACC (p.Phe1552Ter) n.5143_5144insAAAAATACTGTGCAAGATGTATATGCTATTAGGAAGTTTTCAACTACC | dbSNP ExAC |
2 | g.214980578A= | CA1327161009 | ABCA12 | c.4645T= (p.Phe1549=) c.3691T= (p.Phe1231=) n.4945T= c.4654T= (p.Phe1552=) n.5143T= | |
2 | g.214980578A>C | CA350461041 | ABCA12 | c.4645T>G (p.Phe1549Val) c.3691T>G (p.Phe1231Val) n.4945T>G c.4654T>G (p.Phe1552Val) n.5143T>G | |
2 | g.214980578A>G | CA2091423 | ABCA12 | c.4645T>C (p.Phe1549Leu) c.3691T>C (p.Phe1231Leu) n.4945T>C c.4654T>C (p.Phe1552Leu) n.5143T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214980578A>T | CA350461040 | ABCA12 | c.4645T>A (p.Phe1549Ile) c.3691T>A (p.Phe1231Ile) n.4945T>A c.4654T>A (p.Phe1552Ile) n.5143T>A | |
2 | g.214980579G>A | CA431148881 | ABCA12 | c.4644C>T (p.Ala1548=) c.3690C>T (p.Ala1230=) n.4944C>T c.4653C>T (p.Ala1551=) n.5142C>T | |
2 | g.214980579G>C | CA2091424 | ABCA12 | c.4644C>G (p.Ala1548=) c.3690C>G (p.Ala1230=) n.4944C>G c.4653C>G (p.Ala1551=) n.5142C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.214980579G= | CA1327161010 | ABCA12 | c.4644C= (p.Ala1548=) c.3690C= (p.Ala1230=) n.4944C= c.4653C= (p.Ala1551=) n.5142C= | |
2 | g.214980579G>T | CA431148883 | ABCA12 | c.4644C>A (p.Ala1548=) c.3690C>A (p.Ala1230=) n.4944C>A c.4653C>A (p.Ala1551=) n.5142C>A | |
2 | g.214980580G>A | CA350461046 | ABCA12 | c.4643C>T (p.Ala1548Val) c.3689C>T (p.Ala1230Val) n.4943C>T c.4652C>T (p.Ala1551Val) n.5141C>T | |
2 | g.214980580G>C | CA350461049 | ABCA12 | c.4643C>G (p.Ala1548Gly) c.3689C>G (p.Ala1230Gly) n.4943C>G c.4652C>G (p.Ala1551Gly) n.5141C>G | |
2 | g.214980580G>T | CA350461048 | ABCA12 | c.4643C>A (p.Ala1548Asp) c.3689C>A (p.Ala1230Asp) n.4943C>A c.4652C>A (p.Ala1551Asp) n.5141C>A | gnomAD v4 |
2 | g.214980581C>A | CA350461052 | ABCA12 | c.4642G>T (p.Ala1548Ser) c.3688G>T (p.Ala1230Ser) n.4942G>T c.4651G>T (p.Ala1551Ser) n.5140G>T | |
2 | g.214980581C= | CA1327161011 | ABCA12 | c.4642G= (p.Ala1548=) c.3688G= (p.Ala1230=) n.4942G= c.4651G= (p.Ala1551=) n.5140G= | |
2 | g.214980581C>G | CA350461054 | ABCA12 | c.4642G>C (p.Ala1548Pro) c.3688G>C (p.Ala1230Pro) n.4942G>C c.4651G>C (p.Ala1551Pro) n.5140G>C | |
2 | g.214980581C>T | CA2091425 | ABCA12 | c.4642G>A (p.Ala1548Thr) c.3688G>A (p.Ala1230Thr) n.4942G>A c.4651G>A (p.Ala1551Thr) n.5140G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214980582_214980590del | CA2662978476 | ABCA12 | c.4634_4642del (p.Asp1545_Ile1547del) c.3680_3688del (p.Asp1227_Ile1229del) n.4934_4942del c.4643_4651del (p.Asp1548_Ile1550del) n.5132_5140del | gnomAD v4 |
2 | g.214980582G>A | CA64814895 | ABCA12 | c.4641C>T (p.Ile1547=) c.3687C>T (p.Ile1229=) n.4941C>T c.4650C>T (p.Ile1550=) n.5139C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.214980582G>C | CA350461057 | ABCA12 | c.4641C>G (p.Ile1547Met) c.3687C>G (p.Ile1229Met) n.4941C>G c.4650C>G (p.Ile1550Met) n.5139C>G | dbSNP |
2 | g.214980582G= | CA1327161012 | ABCA12 | c.4641C= (p.Ile1547=) c.3687C= (p.Ile1229=) n.4941C= c.4650C= (p.Ile1550=) n.5139C= | |
2 | g.214980582G>T | CA431148886 | ABCA12 | c.4641C>A (p.Ile1547=) c.3687C>A (p.Ile1229=) n.4941C>A c.4650C>A (p.Ile1550=) n.5139C>A | |
2 | g.214980583A= | CA1327161013 | ABCA12 | c.4640T= (p.Ile1547=) c.3686T= (p.Ile1229=) n.4940T= c.4649T= (p.Ile1550=) n.5138T= | |
2 | g.214980583A>C | CA350461059 | ABCA12 | c.4640T>G (p.Ile1547Ser) c.3686T>G (p.Ile1229Ser) n.4940T>G c.4649T>G (p.Ile1550Ser) n.5138T>G | |
2 | g.214980583A>G | CA2091426 | ABCA12 | c.4640T>C (p.Ile1547Thr) c.3686T>C (p.Ile1229Thr) n.4940T>C c.4649T>C (p.Ile1550Thr) n.5138T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214980583A>T | CA350461062 | ABCA12 | c.4640T>A (p.Ile1547Asn) c.3686T>A (p.Ile1229Asn) n.4940T>A c.4649T>A (p.Ile1550Asn) n.5138T>A | COSMIC COSMIC |
2 | g.214980584T>A | CA350461063 | ABCA12 | c.4639A>T (p.Ile1547Phe) c.3685A>T (p.Ile1229Phe) n.4939A>T c.4648A>T (p.Ile1550Phe) n.5137A>T | |
2 | g.214980584T>C | CA350461065 | ABCA12 | c.4639A>G (p.Ile1547Val) c.3685A>G (p.Ile1229Val) n.4939A>G c.4648A>G (p.Ile1550Val) n.5137A>G | gnomAD v4 |
2 | g.214980584T>G | CA350461067 | ABCA12 | c.4639A>C (p.Ile1547Leu) c.3685A>C (p.Ile1229Leu) n.4939A>C c.4648A>C (p.Ile1550Leu) n.5137A>C | |
2 | g.214980585G>A | CA431148895 | ABCA12 | c.4638C>T (p.Arg1546=) c.3684C>T (p.Arg1228=) n.4938C>T c.4647C>T (p.Arg1549=) n.5136C>T | |
2 | g.214980585G>C | CA431148896 | ABCA12 | c.4638C>G (p.Arg1546=) c.3684C>G (p.Arg1228=) n.4938C>G c.4647C>G (p.Arg1549=) n.5136C>G | |
2 | g.214980585G>T | CA431148897 | ABCA12 | c.4638C>A (p.Arg1546=) c.3684C>A (p.Arg1228=) n.4938C>A c.4647C>A (p.Arg1549=) n.5136C>A | |
2 | g.214980586C>A | CA350461069 | ABCA12 | c.4637G>T (p.Arg1546Leu) c.3683G>T (p.Arg1228Leu) n.4937G>T c.4646G>T (p.Arg1549Leu) n.5135G>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214980586C= | CA1327161014 | ABCA12 | c.4637G= (p.Arg1546=) c.3683G= (p.Arg1228=) n.4937G= c.4646G= (p.Arg1549=) n.5135G= | |
2 | g.214980586C>G | CA350461071 | ABCA12 | c.4637G>C (p.Arg1546Pro) c.3683G>C (p.Arg1228Pro) n.4937G>C c.4646G>C (p.Arg1549Pro) n.5135G>C | |
2 | g.214980586C>T | CA350461074 | ABCA12 | c.4637G>A (p.Arg1546His) c.3683G>A (p.Arg1228His) n.4937G>A c.4646G>A (p.Arg1549His) n.5135G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.214980587G>A | CA2091427 | ABCA12 | c.4636C>T (p.Arg1546Cys) c.3682C>T (p.Arg1228Cys) n.4936C>T c.4645C>T (p.Arg1549Cys) n.5134C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214980587G>C | CA350461077 | ABCA12 | c.4636C>G (p.Arg1546Gly) c.3682C>G (p.Arg1228Gly) n.4936C>G c.4645C>G (p.Arg1549Gly) n.5134C>G | gnomAD v4 |
2 | g.214980587G= | CA1327161015 | ABCA12 | c.4636C= (p.Arg1546=) c.3682C= (p.Arg1228=) n.4936C= c.4645C= (p.Arg1549=) n.5134C= | |
2 | g.214980587G>T | CA350461078 | ABCA12 | c.4636C>A (p.Arg1546Ser) c.3682C>A (p.Arg1228Ser) n.4936C>A c.4645C>A (p.Arg1549Ser) n.5134C>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214980588G>A | CA431148907 | ABCA12 | c.4635C>T (p.Asp1545=) c.3681C>T (p.Asp1227=) n.4935C>T c.4644C>T (p.Asp1548=) n.5133C>T | gnomAD v4 |
2 | g.214980588G>C | CA350461080 | ABCA12 | c.4635C>G (p.Asp1545Glu) c.3681C>G (p.Asp1227Glu) n.4935C>G c.4644C>G (p.Asp1548Glu) n.5133C>G | |
2 | g.214980588G>T | CA350461082 | ABCA12 | c.4635C>A (p.Asp1545Glu) c.3681C>A (p.Asp1227Glu) n.4935C>A c.4644C>A (p.Asp1548Glu) n.5133C>A | |
2 | g.214980589T>A | CA350461085 | ABCA12 | c.4634A>T (p.Asp1545Val) c.3680A>T (p.Asp1227Val) n.4934A>T c.4643A>T (p.Asp1548Val) n.5132A>T | |
2 | g.214980589T>C | CA350461086 | ABCA12 | c.4634A>G (p.Asp1545Gly) c.3680A>G (p.Asp1227Gly) n.4934A>G c.4643A>G (p.Asp1548Gly) n.5132A>G | |
2 | g.214980589T>G | CA350461088 | ABCA12 | c.4634A>C (p.Asp1545Ala) c.3680A>C (p.Asp1227Ala) n.4934A>C c.4643A>C (p.Asp1548Ala) n.5132A>C | |
2 | g.214980590C>A | CA350461090 | ABCA12 | c.4633G>T (p.Asp1545Tyr) c.3679G>T (p.Asp1227Tyr) n.4933G>T c.4642G>T (p.Asp1548Tyr) n.5131G>T | |
2 | g.214980590C>G | CA350461091 | ABCA12 | c.4633G>C (p.Asp1545His) c.3679G>C (p.Asp1227His) n.4933G>C c.4642G>C (p.Asp1548His) n.5131G>C | |
2 | g.214980590C>T | CA350461093 | ABCA12 | c.4633G>A (p.Asp1545Asn) c.3679G>A (p.Asp1227Asn) n.4933G>A c.4642G>A (p.Asp1548Asn) n.5131G>A | |
2 | g.214980591A>C | CA350461096 | ABCA12 | c.4632T>G (p.Ser1544Arg) c.3678T>G (p.Ser1226Arg) n.4932T>G c.4641T>G (p.Ser1547Arg) n.5130T>G | |
2 | g.214980591A>G | CA431148914 | ABCA12 | c.4632T>C (p.Ser1544=) c.3678T>C (p.Ser1226=) n.4932T>C c.4641T>C (p.Ser1547=) n.5130T>C | |
2 | g.214980591A>T | CA350461097 | ABCA12 | c.4632T>A (p.Ser1544Arg) c.3678T>A (p.Ser1226Arg) n.4932T>A c.4641T>A (p.Ser1547Arg) n.5130T>A | |
2 | g.214980592C>A | CA350461099 | ABCA12 | c.4631G>T (p.Ser1544Ile) c.3677G>T (p.Ser1226Ile) n.4931G>T c.4640G>T (p.Ser1547Ile) n.5129G>T | |
2 | g.214980592C>G | CA350461101 | ABCA12 | c.4631G>C (p.Ser1544Thr) c.3677G>C (p.Ser1226Thr) n.4931G>C c.4640G>C (p.Ser1547Thr) n.5129G>C | |
2 | g.214980592C>T | CA350461102 | ABCA12 | c.4631G>A (p.Ser1544Asn) c.3677G>A (p.Ser1226Asn) n.4931G>A c.4640G>A (p.Ser1547Asn) n.5129G>A | |
2 | g.214980593T>A | CA350461108 | ABCA12 | c.4630A>T (p.Ser1544Cys) c.3676A>T (p.Ser1226Cys) n.4930A>T c.4639A>T (p.Ser1547Cys) n.5128A>T | |
2 | g.214980593T>C | CA350461106 | ABCA12 | c.4630A>G (p.Ser1544Gly) c.3676A>G (p.Ser1226Gly) n.4930A>G c.4639A>G (p.Ser1547Gly) n.5128A>G | |
2 | g.214980593T>G | CA350461104 | ABCA12 | c.4630A>C (p.Ser1544Arg) c.3676A>C (p.Ser1226Arg) n.4930A>C c.4639A>C (p.Ser1547Arg) n.5128A>C | |
2 | g.214980594C>A | CA431148923 | ABCA12 | c.4629G>T (p.Leu1543=) c.3675G>T (p.Leu1225=) n.4929G>T c.4638G>T (p.Leu1546=) n.5127G>T | |
2 | g.214980594C>G | CA431148921 | ABCA12 | c.4629G>C (p.Leu1543=) c.3675G>C (p.Leu1225=) n.4929G>C c.4638G>C (p.Leu1546=) n.5127G>C | |
2 | g.214980594C>T | CA431148920 | ABCA12 | c.4629G>A (p.Leu1543=) c.3675G>A (p.Leu1225=) n.4929G>A c.4638G>A (p.Leu1546=) n.5127G>A | gnomAD v4 COSMIC COSMIC |
2 | g.214980595A>C | CA350461113 | ABCA12 | c.4628T>G (p.Leu1543Arg) c.3674T>G (p.Leu1225Arg) n.4928T>G c.4637T>G (p.Leu1546Arg) n.5126T>G | |
2 | g.214980595A>G | CA350461110 | ABCA12 | c.4628T>C (p.Leu1543Pro) c.3674T>C (p.Leu1225Pro) n.4928T>C c.4637T>C (p.Leu1546Pro) n.5126T>C | |
2 | g.214980595A>T | CA350461111 | ABCA12 | c.4628T>A (p.Leu1543Gln) c.3674T>A (p.Leu1225Gln) n.4928T>A c.4637T>A (p.Leu1546Gln) n.5126T>A | |
2 | g.214980596G>A | CA2091428 | ABCA12 | c.4627C>T (p.Leu1543=) c.3673C>T (p.Leu1225=) n.4927C>T c.4636C>T (p.Leu1546=) n.5125C>T | dbSNP ExAC gnomAD v4 |
2 | g.214980596G>C | CA350461116 | ABCA12 | c.4627C>G (p.Leu1543Val) c.3673C>G (p.Leu1225Val) n.4927C>G c.4636C>G (p.Leu1546Val) n.5125C>G | |
2 | g.214980596G= | CA1327161016 | ABCA12 | c.4627C= (p.Leu1543=) c.3673C= (p.Leu1225=) n.4927C= c.4636C= (p.Leu1546=) n.5125C= | |
2 | g.214980596G>T | CA350461118 | ABCA12 | c.4627C>A (p.Leu1543Met) c.3673C>A (p.Leu1225Met) n.4927C>A c.4636C>A (p.Leu1546Met) n.5125C>A | |
2 | g.214980597C>A | CA431148927 | ABCA12 | c.4626G>T (p.Val1542=) c.3672G>T (p.Val1224=) n.4926G>T c.4635G>T (p.Val1545=) n.5124G>T | gnomAD v4 |
2 | g.214980597C>G | CA431148929 | ABCA12 | c.4626G>C (p.Val1542=) c.3672G>C (p.Val1224=) n.4926G>C c.4635G>C (p.Val1545=) n.5124G>C | |
2 | g.214980597C>T | CA431148928 | ABCA12 | c.4626G>A (p.Val1542=) c.3672G>A (p.Val1224=) n.4926G>A c.4635G>A (p.Val1545=) n.5124G>A | |
2 | g.214980598A>C | CA350461123 | ABCA12 | c.4625T>G (p.Val1542Gly) c.3671T>G (p.Val1224Gly) n.4925T>G c.4634T>G (p.Val1545Gly) n.5123T>G | gnomAD v4 |
2 | g.214980598A>G | CA350461121 | ABCA12 | c.4625T>C (p.Val1542Ala) c.3671T>C (p.Val1224Ala) n.4925T>C c.4634T>C (p.Val1545Ala) n.5123T>C | |
2 | g.214980598A>T | CA350461120 | ABCA12 | c.4625T>A (p.Val1542Glu) c.3671T>A (p.Val1224Glu) n.4925T>A c.4634T>A (p.Val1545Glu) n.5123T>A | |
2 | g.214980599C>A | CA350461126 | ABCA12 | c.4624G>T (p.Val1542Leu) c.3670G>T (p.Val1224Leu) n.4924G>T c.4633G>T (p.Val1545Leu) n.5122G>T | |
2 | g.214980599C>G | CA350461127 | ABCA12 | c.4624G>C (p.Val1542Leu) c.3670G>C (p.Val1224Leu) n.4924G>C c.4633G>C (p.Val1545Leu) n.5122G>C | gnomAD v4 |
2 | g.214980599C>T | CA350461129 | ABCA12 | c.4624G>A (p.Val1542Met) c.3670G>A (p.Val1224Met) n.4924G>A c.4633G>A (p.Val1545Met) n.5122G>A | |
2 | g.214980600T>A | CA350461132 | ABCA12 | c.4623A>T (p.Glu1541Asp) c.3669A>T (p.Glu1223Asp) n.4923A>T c.4632A>T (p.Glu1544Asp) n.5121A>T | |
2 | g.214980600T>C | CA2091429 | ABCA12 | c.4623A>G (p.Glu1541=) c.3669A>G (p.Glu1223=) n.4923A>G c.4632A>G (p.Glu1544=) n.5121A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.214980600T>G | CA350461134 | ABCA12 | c.4623A>C (p.Glu1541Asp) c.3669A>C (p.Glu1223Asp) n.4923A>C c.4632A>C (p.Glu1544Asp) n.5121A>C | |
2 | g.214980600T= | CA1327161017 | ABCA12 | c.4623A= (p.Glu1541=) c.3669A= (p.Glu1223=) n.4923A= c.4632A= (p.Glu1544=) n.5121A= | |
2 | g.214980601T>A | CA350461137 | ABCA12 | c.4622A>T (p.Glu1541Val) c.3668A>T (p.Glu1223Val) n.4922A>T c.4631A>T (p.Glu1544Val) n.5120A>T | |
2 | g.214980601T>C | CA350461140 | ABCA12 | c.4622A>G (p.Glu1541Gly) c.3668A>G (p.Glu1223Gly) n.4922A>G c.4631A>G (p.Glu1544Gly) n.5120A>G | |
2 | g.214980601T>G | CA350461138 | ABCA12 | c.4622A>C (p.Glu1541Ala) c.3668A>C (p.Glu1223Ala) n.4922A>C c.4631A>C (p.Glu1544Ala) n.5120A>C | |
2 | g.214980602C>A | CA350461143 | ABCA12 | c.4621G>T (p.Glu1541Ter) c.3667G>T (p.Glu1223Ter) n.4921G>T c.4630G>T (p.Glu1544Ter) n.5119G>T | |
2 | g.214980602C>G | CA350461144 | ABCA12 | c.4621G>C (p.Glu1541Gln) c.3667G>C (p.Glu1223Gln) n.4921G>C c.4630G>C (p.Glu1544Gln) n.5119G>C | |
2 | g.214980602C>T | CA350461145 | ABCA12 | c.4621G>A (p.Glu1541Lys) c.3667G>A (p.Glu1223Lys) n.4921G>A c.4630G>A (p.Glu1544Lys) n.5119G>A | |
2 | g.214980603A>C | CA431148944 | ABCA12 | c.4620T>G (p.Ala1540=) c.3666T>G (p.Ala1222=) n.4920T>G c.4629T>G (p.Ala1543=) n.5118T>G | |
2 | g.214980603A>G | CA431148945 | ABCA12 | c.4620T>C (p.Ala1540=) c.3666T>C (p.Ala1222=) n.4920T>C c.4629T>C (p.Ala1543=) n.5118T>C | ClinVar gnomAD v4 |
2 | g.214980603A>T | CA431148947 | ABCA12 | c.4620T>A (p.Ala1540=) c.3666T>A (p.Ala1222=) n.4920T>A c.4629T>A (p.Ala1543=) n.5118T>A | |
2 | g.214980604G>A | CA2091430 | ABCA12 | c.4619C>T (p.Ala1540Val) c.3665C>T (p.Ala1222Val) n.4919C>T c.4628C>T (p.Ala1543Val) n.5117C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214980604G>C | CA350461148 | ABCA12 | c.4619C>G (p.Ala1540Gly) c.3665C>G (p.Ala1222Gly) n.4919C>G c.4628C>G (p.Ala1543Gly) n.5117C>G | |
2 | g.214980604G= | CA1327161018 | ABCA12 | c.4619C= (p.Ala1540=) c.3665C= (p.Ala1222=) n.4919C= c.4628C= (p.Ala1543=) n.5117C= | |
2 | g.214980604G>T | CA350461149 | ABCA12 | c.4619C>A (p.Ala1540Asp) c.3665C>A (p.Ala1222Asp) n.4919C>A c.4628C>A (p.Ala1543Asp) n.5117C>A | |
2 | g.214980605C>A | CA2091432 | ABCA12 | c.4618G>T (p.Ala1540Ser) c.3664G>T (p.Ala1222Ser) n.4918G>T c.4627G>T (p.Ala1543Ser) n.5116G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214980605C= | CA1327161019 | ABCA12 | c.4618G= (p.Ala1540=) c.3664G= (p.Ala1222=) n.4918G= c.4627G= (p.Ala1543=) n.5116G= | |
2 | g.214980605C>G | CA350461153 | ABCA12 | c.4618G>C (p.Ala1540Pro) c.3664G>C (p.Ala1222Pro) n.4918G>C c.4627G>C (p.Ala1543Pro) n.5116G>C | |
2 | g.214980605C>T | CA2091431 | ABCA12 | c.4618G>A (p.Ala1540Thr) c.3664G>A (p.Ala1222Thr) n.4918G>A c.4627G>A (p.Ala1543Thr) n.5116G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.214980606C>A | CA350461155 | ABCA12 | c.4617G>T (p.Glu1539Asp) c.3663G>T (p.Glu1221Asp) n.4917G>T c.4626G>T (p.Glu1542Asp) n.5115G>T | |
2 | g.214980606C>G | CA350461157 | ABCA12 | c.4617G>C (p.Glu1539Asp) c.3663G>C (p.Glu1221Asp) n.4917G>C c.4626G>C (p.Glu1542Asp) n.5115G>C | gnomAD v4 |
2 | g.214980606C>T | CA431148956 | ABCA12 | c.4617G>A (p.Glu1539=) c.3663G>A (p.Glu1221=) n.4917G>A c.4626G>A (p.Glu1542=) n.5115G>A | gnomAD v4 |
2 | g.214980607T>A | CA350461161 | ABCA12 | c.4616A>T (p.Glu1539Val) c.3662A>T (p.Glu1221Val) n.4916A>T c.4625A>T (p.Glu1542Val) n.5114A>T | |
2 | g.214980607T>C | CA350461163 | ABCA12 | c.4616A>G (p.Glu1539Gly) c.3662A>G (p.Glu1221Gly) n.4916A>G c.4625A>G (p.Glu1542Gly) n.5114A>G | |
2 | g.214980607T>G | CA350461160 | ABCA12 | c.4616A>C (p.Glu1539Ala) c.3662A>C (p.Glu1221Ala) n.4916A>C c.4625A>C (p.Glu1542Ala) n.5114A>C | |
2 | g.214980608C>A | CA350461165 | ABCA12 | c.4615G>T (p.Glu1539Ter) c.3661G>T (p.Glu1221Ter) n.4915G>T c.4624G>T (p.Glu1542Ter) n.5113G>T | |
2 | g.214980608C= | CA1327161020 | ABCA12 | c.4615G= (p.Glu1539=) c.3661G= (p.Glu1221=) n.4915G= c.4624G= (p.Glu1542=) n.5113G= | |
2 | g.214980608C>G | CA350461167 | ABCA12 | c.4615G>C (p.Glu1539Gln) c.3661G>C (p.Glu1221Gln) n.4915G>C c.4624G>C (p.Glu1542Gln) n.5113G>C | |
2 | g.214980608C>T | CA252478 | ABCA12 | c.4615G>A (p.Glu1539Lys) c.3661G>A (p.Glu1221Lys) n.4915G>A c.4624G>A (p.Glu1542Lys) n.5113G>A | ClinVar dbSNP gnomAD v4 |
2 | g.214980609G>A | CA2091433 | ABCA12 | c.4614C>T (p.Asp1538=) c.3660C>T (p.Asp1220=) n.4914C>T c.4623C>T (p.Asp1541=) n.5112C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.214980609G>C | CA350461171 | ABCA12 | c.4614C>G (p.Asp1538Glu) c.3660C>G (p.Asp1220Glu) n.4914C>G c.4623C>G (p.Asp1541Glu) n.5112C>G | |
2 | g.214980609G= | CA1327161021 | ABCA12 | c.4614C= (p.Asp1538=) c.3660C= (p.Asp1220=) n.4914C= c.4623C= (p.Asp1541=) n.5112C= | |
2 | g.214980609G>T | CA350461173 | ABCA12 | c.4614C>A (p.Asp1538Glu) c.3660C>A (p.Asp1220Glu) n.4914C>A c.4623C>A (p.Asp1541Glu) n.5112C>A | |
2 | g.214980610T>A | CA350461179 | ABCA12 | c.4613A>T (p.Asp1538Val) c.3659A>T (p.Asp1220Val) n.4913A>T c.4622A>T (p.Asp1541Val) n.5111A>T | COSMIC COSMIC |
2 | g.214980610T>C | CA350461176 | ABCA12 | c.4613A>G (p.Asp1538Gly) c.3659A>G (p.Asp1220Gly) n.4913A>G c.4622A>G (p.Asp1541Gly) n.5111A>G | |
2 | g.214980610T>G | CA350461177 | ABCA12 | c.4613A>C (p.Asp1538Ala) c.3659A>C (p.Asp1220Ala) n.4913A>C c.4622A>C (p.Asp1541Ala) n.5111A>C | |
2 | g.214980611C>A | CA350461180 | ABCA12 | c.4612G>T (p.Asp1538Tyr) c.3658G>T (p.Asp1220Tyr) n.4912G>T c.4621G>T (p.Asp1541Tyr) n.5110G>T | |
2 | g.214980611C>G | CA350461183 | ABCA12 | c.4612G>C (p.Asp1538His) c.3658G>C (p.Asp1220His) n.4912G>C c.4621G>C (p.Asp1541His) n.5110G>C | |
2 | g.214980611C>T | CA350461185 | ABCA12 | c.4612G>A (p.Asp1538Asn) c.3658G>A (p.Asp1220Asn) n.4912G>A c.4621G>A (p.Asp1541Asn) n.5110G>A | |
2 | g.214980612C>A | CA350461187 | ABCA12 | c.4611G>T (p.Leu1537Phe) c.3657G>T (p.Leu1219Phe) n.4911G>T c.4620G>T (p.Leu1540Phe) n.5109G>T | gnomAD v4 |
2 | g.214980612C>G | CA350461189 | ABCA12 | c.4611G>C (p.Leu1537Phe) c.3657G>C (p.Leu1219Phe) n.4911G>C c.4620G>C (p.Leu1540Phe) n.5109G>C | |
2 | g.214980612C>T | CA431148967 | ABCA12 | c.4611G>A (p.Leu1537=) c.3657G>A (p.Leu1219=) n.4911G>A c.4620G>A (p.Leu1540=) n.5109G>A | |
2 | g.214980613A>C | CA350461194 | ABCA12 | c.4610T>G (p.Leu1537Trp) c.3656T>G (p.Leu1219Trp) n.4910T>G c.4619T>G (p.Leu1540Trp) n.5108T>G | gnomAD v4 |
2 | g.214980613A>G | CA350461191 | ABCA12 | c.4610T>C (p.Leu1537Ser) c.3656T>C (p.Leu1219Ser) n.4910T>C c.4619T>C (p.Leu1540Ser) n.5108T>C | |
2 | g.214980613A>T | CA350461192 | ABCA12 | c.4610T>A (p.Leu1537Ter) c.3656T>A (p.Leu1219Ter) n.4910T>A c.4619T>A (p.Leu1540Ter) n.5108T>A | |
2 | g.214980614A>C | CA350461195 | ABCA12 | c.4609T>G (p.Leu1537Val) c.3655T>G (p.Leu1219Val) n.4909T>G c.4618T>G (p.Leu1540Val) n.5107T>G | |
2 | g.214980614A>G | CA431148974 | ABCA12 | c.4609T>C (p.Leu1537=) c.3655T>C (p.Leu1219=) n.4909T>C c.4618T>C (p.Leu1540=) n.5107T>C | |
2 | g.214980614A>T | CA350461196 | ABCA12 | c.4609T>A (p.Leu1537Met) c.3655T>A (p.Leu1219Met) n.4909T>A c.4618T>A (p.Leu1540Met) n.5107T>A | |
2 | g.214980615G>A | CA431148975 | ABCA12 | c.4608C>T (p.His1536=) c.3654C>T (p.His1218=) n.4908C>T c.4617C>T (p.His1539=) n.5106C>T | |
2 | g.214980615G>C | CA350461197 | ABCA12 | c.4608C>G (p.His1536Gln) c.3654C>G (p.His1218Gln) n.4908C>G c.4617C>G (p.His1539Gln) n.5106C>G | |
2 | g.214980615G>T | CA350461198 | ABCA12 | c.4608C>A (p.His1536Gln) c.3654C>A (p.His1218Gln) n.4908C>A c.4617C>A (p.His1539Gln) n.5106C>A | |
2 | g.214980616T>A | CA350461199 | ABCA12 | c.4607A>T (p.His1536Leu) c.3653A>T (p.His1218Leu) n.4907A>T c.4616A>T (p.His1539Leu) n.5105A>T | |
2 | g.214980616T>C | CA64814940 | ABCA12 | c.4607A>G (p.His1536Arg) c.3653A>G (p.His1218Arg) n.4907A>G c.4616A>G (p.His1539Arg) n.5105A>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214980616T>G | CA350461201 | ABCA12 | c.4607A>C (p.His1536Pro) c.3653A>C (p.His1218Pro) n.4907A>C c.4616A>C (p.His1539Pro) n.5105A>C | |
2 | g.214980616T= | CA1327161022 | ABCA12 | c.4607A= (p.His1536=) c.3653A= (p.His1218=) n.4907A= c.4616A= (p.His1539=) n.5105A= | |
2 | g.214980617G>A | CA350461203 | ABCA12 | c.4606C>T (p.His1536Tyr) c.3652C>T (p.His1218Tyr) n.4906C>T c.4615C>T (p.His1539Tyr) n.5104C>T | gnomAD v4 |
2 | g.214980617G>C | CA350461204 | ABCA12 | c.4606C>G (p.His1536Asp) c.3652C>G (p.His1218Asp) n.4906C>G c.4615C>G (p.His1539Asp) n.5104C>G | |
2 | g.214980617G>T | CA350461206 | ABCA12 | c.4606C>A (p.His1536Asn) c.3652C>A (p.His1218Asn) n.4906C>A c.4615C>A (p.His1539Asn) n.5104C>A | |
2 | g.214980618G>A | CA431148984 | ABCA12 | c.4605C>T (p.His1535=) c.3651C>T (p.His1217=) n.4905C>T c.4614C>T (p.His1538=) n.5103C>T | |
2 | g.214980618G>C | CA350461208 | ABCA12 | c.4605C>G (p.His1535Gln) c.3651C>G (p.His1217Gln) n.4905C>G c.4614C>G (p.His1538Gln) n.5103C>G | gnomAD v4 |
2 | g.214980618G>T | CA350461209 | ABCA12 | c.4605C>A (p.His1535Gln) c.3651C>A (p.His1217Gln) n.4905C>A c.4614C>A (p.His1538Gln) n.5103C>A | |
2 | g.214980619T>A | CA350461210 | ABCA12 | c.4604A>T (p.His1535Leu) c.3650A>T (p.His1217Leu) n.4904A>T c.4613A>T (p.His1538Leu) n.5102A>T | |
2 | g.214980619T>C | CA350461214 | ABCA12 | c.4604A>G (p.His1535Arg) c.3650A>G (p.His1217Arg) n.4904A>G c.4613A>G (p.His1538Arg) n.5102A>G | |
2 | g.214980619T>G | CA350461212 | ABCA12 | c.4604A>C (p.His1535Pro) c.3650A>C (p.His1217Pro) n.4904A>C c.4613A>C (p.His1538Pro) n.5102A>C | |
2 | g.214980620G>A | CA350461216 | ABCA12 | c.4603C>T (p.His1535Tyr) c.3649C>T (p.His1217Tyr) n.4903C>T c.4612C>T (p.His1538Tyr) n.5101C>T | ClinVar |
2 | g.214980620G>C | CA350461218 | ABCA12 | c.4603C>G (p.His1535Asp) c.3649C>G (p.His1217Asp) n.4903C>G c.4612C>G (p.His1538Asp) n.5101C>G | |
2 | g.214980620G>T | CA350461220 | ABCA12 | c.4603C>A (p.His1535Asn) c.3649C>A (p.His1217Asn) n.4903C>A c.4612C>A (p.His1538Asn) n.5101C>A | |
2 | g.214980621C>A | CA431148991 | ABCA12 | c.4602G>T (p.Thr1534=) c.3648G>T (p.Thr1216=) n.4902G>T c.4611G>T (p.Thr1537=) n.5100G>T | |
2 | g.214980621C= | CA1327161023 | ABCA12 | c.4602G= (p.Thr1534=) c.3648G= (p.Thr1216=) n.4902G= c.4611G= (p.Thr1537=) n.5100G= | |
2 | g.214980621C>G | CA431148993 | ABCA12 | c.4602G>C (p.Thr1534=) c.3648G>C (p.Thr1216=) n.4902G>C c.4611G>C (p.Thr1537=) n.5100G>C | |
2 | g.214980621C>T | CA64814945 | ABCA12 | c.4602G>A (p.Thr1534=) c.3648G>A (p.Thr1216=) n.4902G>A c.4611G>A (p.Thr1537=) n.5100G>A | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
2 | g.214980622G>A | CA2091434 | ABCA12 | c.4601C>T (p.Thr1534Met) c.3647C>T (p.Thr1216Met) n.4901C>T c.4610C>T (p.Thr1537Met) n.5099C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.214980622G>C | CA350461223 | ABCA12 | c.4601C>G (p.Thr1534Arg) c.3647C>G (p.Thr1216Arg) n.4901C>G c.4610C>G (p.Thr1537Arg) n.5099C>G | |
2 | g.214980622G= | CA1327161024 | ABCA12 | c.4601C= (p.Thr1534=) c.3647C= (p.Thr1216=) n.4901C= c.4610C= (p.Thr1537=) n.5099C= | |
2 | g.214980622G>T | CA350461225 | ABCA12 | c.4601C>A (p.Thr1534Lys) c.3647C>A (p.Thr1216Lys) n.4901C>A c.4610C>A (p.Thr1537Lys) n.5099C>A | COSMIC COSMIC |
2 | g.214980623T>A | CA350461228 | ABCA12 | c.4600A>T (p.Thr1534Ser) c.3646A>T (p.Thr1216Ser) n.4900A>T c.4609A>T (p.Thr1537Ser) n.5098A>T | |
2 | g.214980623T>C | CA350461229 | ABCA12 | c.4600A>G (p.Thr1534Ala) c.3646A>G (p.Thr1216Ala) n.4900A>G c.4609A>G (p.Thr1537Ala) n.5098A>G | |
2 | g.214980623T>G | CA350461232 | ABCA12 | c.4600A>C (p.Thr1534Pro) c.3646A>C (p.Thr1216Pro) n.4900A>C c.4609A>C (p.Thr1537Pro) n.5098A>C |