| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.214980521del | CA2662978474 | ABCA12 | c.4704del (p.Phe1568LeufsTer17) c.3750del (p.Phe1250LeufsTer17) n.5004del c.4713del (p.Phe1571LeufsTer17) n.5202del | gnomAD v4 |
| 2 | g.214980520A>C | CA350460790 | ABCA12 | c.4703T>G (p.Phe1568Cys) c.3749T>G (p.Phe1250Cys) n.5003T>G c.4712T>G (p.Phe1571Cys) n.5201T>G | gnomAD v4 |
| 2 | g.214980520A>G | CA350460794 | ABCA12 | c.4703T>C (p.Phe1568Ser) c.3749T>C (p.Phe1250Ser) n.5003T>C c.4712T>C (p.Phe1571Ser) n.5201T>C | |
| 2 | g.214980520A>T | CA350460792 | ABCA12 | c.4703T>A (p.Phe1568Tyr) c.3749T>A (p.Phe1250Tyr) n.5003T>A c.4712T>A (p.Phe1571Tyr) n.5201T>A | |
| 2 | g.214980521A>C | CA350460795 | ABCA12 | c.4702T>G (p.Phe1568Val) c.3748T>G (p.Phe1250Val) n.5002T>G c.4711T>G (p.Phe1571Val) n.5200T>G | |
| 2 | g.214980521A>G | CA350460796 | ABCA12 | c.4702T>C (p.Phe1568Leu) c.3748T>C (p.Phe1250Leu) n.5002T>C c.4711T>C (p.Phe1571Leu) n.5200T>C | gnomAD v4 |
| 2 | g.214980521A>T | CA350460798 | ABCA12 | c.4702T>A (p.Phe1568Ile) c.3748T>A (p.Phe1250Ile) n.5002T>A c.4711T>A (p.Phe1571Ile) n.5200T>A | |
| 2 | g.214980522G>A | CA431148687 | ABCA12 | c.4701C>T (p.Ala1567=) c.3747C>T (p.Ala1249=) n.5001C>T c.4710C>T (p.Ala1570=) n.5199C>T | |
| 2 | g.214980522G>C | CA431148683 | ABCA12 | c.4701C>G (p.Ala1567=) c.3747C>G (p.Ala1249=) n.5001C>G c.4710C>G (p.Ala1570=) n.5199C>G | |
| 2 | g.214980522G>T | CA431148685 | ABCA12 | c.4701C>A (p.Ala1567=) c.3747C>A (p.Ala1249=) n.5001C>A c.4710C>A (p.Ala1570=) n.5199C>A | |
| 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 |