Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.214980511C>A | CA350460751 | ABCA12 | c.4712G>T (p.Gly1571Val) c.3758G>T (p.Gly1253Val) n.5012G>T c.4721G>T (p.Gly1574Val) n.5210G>T | |
2 | g.214980511C>G | CA350460752 | ABCA12 | c.4712G>C (p.Gly1571Ala) c.3758G>C (p.Gly1253Ala) n.5012G>C c.4721G>C (p.Gly1574Ala) n.5210G>C | |
2 | g.214980511C>T | CA350460754 | ABCA12 | c.4712G>A (p.Gly1571Glu) c.3758G>A (p.Gly1253Glu) n.5012G>A c.4721G>A (p.Gly1574Glu) n.5210G>A | |
2 | g.214980512C>A | CA350460757 | ABCA12 | c.4711G>T (p.Gly1571Trp) c.3757G>T (p.Gly1253Trp) n.5011G>T c.4720G>T (p.Gly1574Trp) n.5209G>T | |
2 | g.214980512C>G | CA350460758 | ABCA12 | c.4711G>C (p.Gly1571Arg) c.3757G>C (p.Gly1253Arg) n.5011G>C c.4720G>C (p.Gly1574Arg) n.5209G>C | |
2 | g.214980512C>T | CA350460760 | ABCA12 | c.4711G>A (p.Gly1571Arg) c.3757G>A (p.Gly1253Arg) n.5011G>A c.4720G>A (p.Gly1574Arg) n.5209G>A | |
2 | g.214980513A>C | CA350460764 | ABCA12 | c.4710T>G (p.Asp1570Glu) c.3756T>G (p.Asp1252Glu) n.5010T>G c.4719T>G (p.Asp1573Glu) n.5208T>G | |
2 | g.214980513A>G | CA431148651 | ABCA12 | c.4710T>C (p.Asp1570=) c.3756T>C (p.Asp1252=) n.5010T>C c.4719T>C (p.Asp1573=) n.5208T>C | gnomAD v4 |
2 | g.214980513A>T | CA350460762 | ABCA12 | c.4710T>A (p.Asp1570Glu) c.3756T>A (p.Asp1252Glu) n.5010T>A c.4719T>A (p.Asp1573Glu) n.5208T>A | |
2 | g.214980514T>A | CA350460766 | ABCA12 | c.4709A>T (p.Asp1570Val) c.3755A>T (p.Asp1252Val) n.5009A>T c.4718A>T (p.Asp1573Val) n.5207A>T | |
2 | g.214980514T>C | CA350460767 | ABCA12 | c.4709A>G (p.Asp1570Gly) c.3755A>G (p.Asp1252Gly) n.5009A>G c.4718A>G (p.Asp1573Gly) n.5207A>G | |
2 | g.214980514T>G | CA350460769 | ABCA12 | c.4709A>C (p.Asp1570Ala) c.3755A>C (p.Asp1252Ala) n.5009A>C c.4718A>C (p.Asp1573Ala) n.5207A>C | |
2 | g.214980515C>A | CA350460770 | ABCA12 | c.4708G>T (p.Asp1570Tyr) c.3754G>T (p.Asp1252Tyr) n.5008G>T c.4717G>T (p.Asp1573Tyr) n.5206G>T | gnomAD v4 |
2 | g.214980515C= | CA1327160980 | ABCA12 | c.4708G= (p.Asp1570=) c.3754G= (p.Asp1252=) n.5008G= c.4717G= (p.Asp1573=) n.5206G= | |
2 | g.214980515C>G | CA350460772 | ABCA12 | c.4708G>C (p.Asp1570His) c.3754G>C (p.Asp1252His) n.5008G>C c.4717G>C (p.Asp1573His) n.5206G>C | |
2 | g.214980515C>T | CA2091411 | ABCA12 | c.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 |
2 | g.214980516G>A | CA2091412 | ABCA12 | c.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 |
2 | g.214980516G>C | CA431148659 | ABCA12 | c.4707C>G (p.Gly1569=) c.3753C>G (p.Gly1251=) n.5007C>G c.4716C>G (p.Gly1572=) n.5205C>G | |
2 | g.214980516G= | CA1327160981 | ABCA12 | c.4707C= (p.Gly1569=) c.3753C= (p.Gly1251=) n.5007C= c.4716C= (p.Gly1572=) n.5205C= | |
2 | g.214980516G>T | CA431148661 | ABCA12 | c.4707C>A (p.Gly1569=) c.3753C>A (p.Gly1251=) n.5007C>A c.4716C>A (p.Gly1572=) n.5205C>A | |
2 | g.214980517C>A | CA350460779 | ABCA12 | c.4706G>T (p.Gly1569Val) c.3752G>T (p.Gly1251Val) n.5006G>T c.4715G>T (p.Gly1572Val) n.5204G>T | |
2 | g.214980517C>G | CA350460777 | ABCA12 | c.4706G>C (p.Gly1569Ala) c.3752G>C (p.Gly1251Ala) n.5006G>C c.4715G>C (p.Gly1572Ala) n.5204G>C | |
2 | g.214980517C>T | CA350460778 | ABCA12 | c.4706G>A (p.Gly1569Asp) c.3752G>A (p.Gly1251Asp) n.5006G>A c.4715G>A (p.Gly1572Asp) n.5204G>A | |
2 | g.214980518C>A | CA350460782 | ABCA12 | c.4705G>T (p.Gly1569Cys) c.3751G>T (p.Gly1251Cys) n.5005G>T c.4714G>T (p.Gly1572Cys) n.5203G>T | |
2 | g.214980518C>G | CA350460784 | ABCA12 | c.4705G>C (p.Gly1569Arg) c.3751G>C (p.Gly1251Arg) n.5005G>C c.4714G>C (p.Gly1572Arg) n.5203G>C | |
2 | g.214980518C>T | CA350460785 | ABCA12 | c.4705G>A (p.Gly1569Ser) c.3751G>A (p.Gly1251Ser) n.5005G>A c.4714G>A (p.Gly1572Ser) n.5203G>A | |
2 | g.214980519A>C | CA350460787 | ABCA12 | c.4704T>G (p.Phe1568Leu) c.3750T>G (p.Phe1250Leu) n.5004T>G c.4713T>G (p.Phe1571Leu) n.5202T>G | |
2 | g.214980519A>G | CA431148673 | ABCA12 | c.4704T>C (p.Phe1568=) c.3750T>C (p.Phe1250=) n.5004T>C c.4713T>C (p.Phe1571=) n.5202T>C | |
2 | g.214980519A>T | CA350460788 | ABCA12 | c.4704T>A (p.Phe1568Leu) c.3750T>A (p.Phe1250Leu) n.5004T>A c.4713T>A (p.Phe1571Leu) n.5202T>A | |
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= |