| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.104798504G>A | CA120488 | ABCA1 | c.5038C>T (p.Arg1680Trp) c.5044C>T (p.Arg1682Trp) c.4864C>T (p.Arg1622Trp) c.5119C>T (p.Arg1707Trp) c.5113C>T (p.Arg1705Trp) c.4681C>T (p.Arg1561Trp) c.4981C>T (p.Arg1661Trp) n.5432C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.104798504G>C | CA374314090 | ABCA1 | c.5038C>G (p.Arg1680Gly) c.5044C>G (p.Arg1682Gly) c.4864C>G (p.Arg1622Gly) c.5119C>G (p.Arg1707Gly) c.5113C>G (p.Arg1705Gly) c.4681C>G (p.Arg1561Gly) c.4981C>G (p.Arg1661Gly) n.5432C>G | |
| 9 | g.104798504G= | CA1869915999 | ABCA1 | c.5038C= (p.Arg1680=) c.5044C= (p.Arg1682=) c.4864C= (p.Arg1622=) c.5119C= (p.Arg1707=) c.5113C= (p.Arg1705=) c.4681C= (p.Arg1561=) c.4981C= (p.Arg1661=) n.5432C= | |
| 9 | g.104798504G>T | CA5167955 | ABCA1 | c.5038C>A (p.Arg1680=) c.5044C>A (p.Arg1682=) c.4864C>A (p.Arg1622=) c.5119C>A (p.Arg1707=) c.5113C>A (p.Arg1705=) c.4681C>A (p.Arg1561=) c.4981C>A (p.Arg1661=) n.5432C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.104798505C>A | CA374314091 | ABCA1 | c.5037G>T (p.Glu1679Asp) c.5043G>T (p.Glu1681Asp) c.4863G>T (p.Glu1621Asp) c.5118G>T (p.Glu1706Asp) c.5112G>T (p.Glu1704Asp) c.4680G>T (p.Glu1560Asp) c.4980G>T (p.Glu1660Asp) n.5431G>T | |
| 9 | g.104798505C>G | CA374314092 | ABCA1 | c.5037G>C (p.Glu1679Asp) c.5043G>C (p.Glu1681Asp) c.4863G>C (p.Glu1621Asp) c.5118G>C (p.Glu1706Asp) c.5112G>C (p.Glu1704Asp) c.4680G>C (p.Glu1560Asp) c.4980G>C (p.Glu1660Asp) n.5431G>C | |
| 9 | g.104798505C>T | CA466503137 | ABCA1 | c.5037G>A (p.Glu1679=) c.5043G>A (p.Glu1681=) c.4863G>A (p.Glu1621=) c.5118G>A (p.Glu1706=) c.5112G>A (p.Glu1704=) c.4680G>A (p.Glu1560=) c.4980G>A (p.Glu1660=) n.5431G>A | ClinVar |
| 9 | g.104798506T>A | CA374314095 | ABCA1 | c.5036A>T (p.Glu1679Val) c.5042A>T (p.Glu1681Val) c.4862A>T (p.Glu1621Val) c.5117A>T (p.Glu1706Val) c.5111A>T (p.Glu1704Val) c.4679A>T (p.Glu1560Val) c.4979A>T (p.Glu1660Val) n.5430A>T | |
| 9 | g.104798506T>C | CA374314094 | ABCA1 | c.5036A>G (p.Glu1679Gly) c.5042A>G (p.Glu1681Gly) c.4862A>G (p.Glu1621Gly) c.5117A>G (p.Glu1706Gly) c.5111A>G (p.Glu1704Gly) c.4679A>G (p.Glu1560Gly) c.4979A>G (p.Glu1660Gly) n.5430A>G | |
| 9 | g.104798506T>G | CA374314093 | ABCA1 | c.5036A>C (p.Glu1679Ala) c.5042A>C (p.Glu1681Ala) c.4862A>C (p.Glu1621Ala) c.5117A>C (p.Glu1706Ala) c.5111A>C (p.Glu1704Ala) c.4679A>C (p.Glu1560Ala) c.4979A>C (p.Glu1660Ala) n.5430A>C | |
| 9 | g.104798507C>A | CA374314096 | ABCA1 | c.5035G>T (p.Glu1679Ter) c.5041G>T (p.Glu1681Ter) c.4861G>T (p.Glu1621Ter) c.5116G>T (p.Glu1706Ter) c.5110G>T (p.Glu1704Ter) c.4678G>T (p.Glu1560Ter) c.4978G>T (p.Glu1660Ter) n.5429G>T | |
| 9 | g.104798507C>G | CA374314097 | ABCA1 | c.5035G>C (p.Glu1679Gln) c.5041G>C (p.Glu1681Gln) c.4861G>C (p.Glu1621Gln) c.5116G>C (p.Glu1706Gln) c.5110G>C (p.Glu1704Gln) c.4678G>C (p.Glu1560Gln) c.4978G>C (p.Glu1660Gln) n.5429G>C | |
| 9 | g.104798507C>T | CA374314098 | ABCA1 | c.5035G>A (p.Glu1679Lys) c.5041G>A (p.Glu1681Lys) c.4861G>A (p.Glu1621Lys) c.5116G>A (p.Glu1706Lys) c.5110G>A (p.Glu1704Lys) c.4678G>A (p.Glu1560Lys) c.4978G>A (p.Glu1660Lys) n.5429G>A | |
| 9 | g.104798508C>A | CA374314099 | ABCA1 | c.5034G>T (p.Gln1678His) c.5040G>T (p.Gln1680His) c.4860G>T (p.Gln1620His) c.5115G>T (p.Gln1705His) c.5109G>T (p.Gln1703His) c.4677G>T (p.Gln1559His) c.4977G>T (p.Gln1659His) n.5428G>T | |
| 9 | g.104798508C= | CA1869916017 | ABCA1 | c.5034G= (p.Gln1678=) c.5040G= (p.Gln1680=) c.4860G= (p.Gln1620=) c.5115G= (p.Gln1705=) c.5109G= (p.Gln1703=) c.4677G= (p.Gln1559=) c.4977G= (p.Gln1659=) n.5428G= | |
| 9 | g.104798508C>G | CA374314100 | ABCA1 | c.5034G>C (p.Gln1678His) c.5040G>C (p.Gln1680His) c.4860G>C (p.Gln1620His) c.5115G>C (p.Gln1705His) c.5109G>C (p.Gln1703His) c.4677G>C (p.Gln1559His) c.4977G>C (p.Gln1659His) n.5428G>C | |
| 9 | g.104798508C>T | CA5167956 | ABCA1 | c.5034G>A (p.Gln1678=) c.5040G>A (p.Gln1680=) c.4860G>A (p.Gln1620=) c.5115G>A (p.Gln1705=) c.5109G>A (p.Gln1703=) c.4677G>A (p.Gln1559=) c.4977G>A (p.Gln1659=) n.5428G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.104798509T>A | CA374314101 | ABCA1 | c.5033A>T (p.Gln1678Leu) c.5039A>T (p.Gln1680Leu) c.4859A>T (p.Gln1620Leu) c.5114A>T (p.Gln1705Leu) c.5108A>T (p.Gln1703Leu) c.4676A>T (p.Gln1559Leu) c.4976A>T (p.Gln1659Leu) n.5427A>T | |
| 9 | g.104798509T>C | CA374314102 | ABCA1 | c.5033A>G (p.Gln1678Arg) c.5039A>G (p.Gln1680Arg) c.4859A>G (p.Gln1620Arg) c.5114A>G (p.Gln1705Arg) c.5108A>G (p.Gln1703Arg) c.4676A>G (p.Gln1559Arg) c.4976A>G (p.Gln1659Arg) n.5427A>G | |
| 9 | g.104798509T>G | CA374314103 | ABCA1 | c.5033A>C (p.Gln1678Pro) c.5039A>C (p.Gln1680Pro) c.4859A>C (p.Gln1620Pro) c.5114A>C (p.Gln1705Pro) c.5108A>C (p.Gln1703Pro) c.4676A>C (p.Gln1559Pro) c.4976A>C (p.Gln1659Pro) n.5427A>C | |
| 9 | g.104798510G>A | CA374314104 | ABCA1 | c.5032C>T (p.Gln1678Ter) c.5038C>T (p.Gln1680Ter) c.4858C>T (p.Gln1620Ter) c.5113C>T (p.Gln1705Ter) c.5107C>T (p.Gln1703Ter) c.4675C>T (p.Gln1559Ter) c.4975C>T (p.Gln1659Ter) n.5426C>T | |
| 9 | g.104798510G>C | CA374314105 | ABCA1 | c.5032C>G (p.Gln1678Glu) c.5038C>G (p.Gln1680Glu) c.4858C>G (p.Gln1620Glu) c.5113C>G (p.Gln1705Glu) c.5107C>G (p.Gln1703Glu) c.4675C>G (p.Gln1559Glu) c.4975C>G (p.Gln1659Glu) n.5426C>G | |
| 9 | g.104798510G>T | CA374314106 | ABCA1 | c.5032C>A (p.Gln1678Lys) c.5038C>A (p.Gln1680Lys) c.4858C>A (p.Gln1620Lys) c.5113C>A (p.Gln1705Lys) c.5107C>A (p.Gln1703Lys) c.4675C>A (p.Gln1559Lys) c.4975C>A (p.Gln1659Lys) n.5426C>A | |
| 9 | g.104798511G>A | CA466503139 | ABCA1 | c.5031C>T (p.Ile1677=) c.5037C>T (p.Ile1679=) c.4857C>T (p.Ile1619=) c.5112C>T (p.Ile1704=) c.5106C>T (p.Ile1702=) c.4674C>T (p.Ile1558=) c.4974C>T (p.Ile1658=) n.5425C>T | gnomAD v4 |
| 9 | g.104798511G>C | CA374314107 | ABCA1 | c.5031C>G (p.Ile1677Met) c.5037C>G (p.Ile1679Met) c.4857C>G (p.Ile1619Met) c.5112C>G (p.Ile1704Met) c.5106C>G (p.Ile1702Met) c.4674C>G (p.Ile1558Met) c.4974C>G (p.Ile1658Met) n.5425C>G | |
| 9 | g.104798511G>T | CA466503140 | ABCA1 | c.5031C>A (p.Ile1677=) c.5037C>A (p.Ile1679=) c.4857C>A (p.Ile1619=) c.5112C>A (p.Ile1704=) c.5106C>A (p.Ile1702=) c.4674C>A (p.Ile1558=) c.4974C>A (p.Ile1658=) n.5425C>A | |
| 9 | g.104798512A>C | CA374314109 | ABCA1 | c.5030T>G (p.Ile1677Ser) c.5036T>G (p.Ile1679Ser) c.4856T>G (p.Ile1619Ser) c.5111T>G (p.Ile1704Ser) c.5105T>G (p.Ile1702Ser) c.4673T>G (p.Ile1558Ser) c.4973T>G (p.Ile1658Ser) n.5424T>G | |
| 9 | g.104798512A>G | CA374314110 | ABCA1 | c.5030T>C (p.Ile1677Thr) c.5036T>C (p.Ile1679Thr) c.4856T>C (p.Ile1619Thr) c.5111T>C (p.Ile1704Thr) c.5105T>C (p.Ile1702Thr) c.4673T>C (p.Ile1558Thr) c.4973T>C (p.Ile1658Thr) n.5424T>C | gnomAD v4 |
| 9 | g.104798512A>T | CA374314108 | ABCA1 | c.5030T>A (p.Ile1677Asn) c.5036T>A (p.Ile1679Asn) c.4856T>A (p.Ile1619Asn) c.5111T>A (p.Ile1704Asn) c.5105T>A (p.Ile1702Asn) c.4673T>A (p.Ile1558Asn) c.4973T>A (p.Ile1658Asn) n.5424T>A | |
| 9 | g.104798513T>A | CA374314113 | ABCA1 | c.5029A>T (p.Ile1677Phe) c.5035A>T (p.Ile1679Phe) c.4855A>T (p.Ile1619Phe) c.5110A>T (p.Ile1704Phe) c.5104A>T (p.Ile1702Phe) c.4672A>T (p.Ile1558Phe) c.4972A>T (p.Ile1658Phe) n.5423A>T | |
| 9 | g.104798513T>C | CA374314111 | ABCA1 | c.5029A>G (p.Ile1677Val) c.5035A>G (p.Ile1679Val) c.4855A>G (p.Ile1619Val) c.5110A>G (p.Ile1704Val) c.5104A>G (p.Ile1702Val) c.4672A>G (p.Ile1558Val) c.4972A>G (p.Ile1658Val) n.5423A>G | |
| 9 | g.104798513T>G | CA374314112 | ABCA1 | c.5029A>C (p.Ile1677Leu) c.5035A>C (p.Ile1679Leu) c.4855A>C (p.Ile1619Leu) c.5110A>C (p.Ile1704Leu) c.5104A>C (p.Ile1702Leu) c.4672A>C (p.Ile1558Leu) c.4972A>C (p.Ile1658Leu) n.5423A>C | |
| 9 | g.104798514C>A | CA466503141 | ABCA1 | c.5028G>T (p.Leu1676=) c.5034G>T (p.Leu1678=) c.4854G>T (p.Leu1618=) c.5109G>T (p.Leu1703=) c.5103G>T (p.Leu1701=) c.4671G>T (p.Leu1557=) c.4971G>T (p.Leu1657=) n.5422G>T | |
| 9 | g.104798514C>G | CA466503143 | ABCA1 | c.5028G>C (p.Leu1676=) c.5034G>C (p.Leu1678=) c.4854G>C (p.Leu1618=) c.5109G>C (p.Leu1703=) c.5103G>C (p.Leu1701=) c.4671G>C (p.Leu1557=) c.4971G>C (p.Leu1657=) n.5422G>C | COSMIC |
| 9 | g.104798514C>T | CA466503142 | ABCA1 | c.5028G>A (p.Leu1676=) c.5034G>A (p.Leu1678=) c.4854G>A (p.Leu1618=) c.5109G>A (p.Leu1703=) c.5103G>A (p.Leu1701=) c.4671G>A (p.Leu1557=) c.4971G>A (p.Leu1657=) n.5422G>A | ClinVar gnomAD v4 |
| 9 | g.104798515A>C | CA374314114 | ABCA1 | c.5027T>G (p.Leu1676Arg) c.5033T>G (p.Leu1678Arg) c.4853T>G (p.Leu1618Arg) c.5108T>G (p.Leu1703Arg) c.5102T>G (p.Leu1701Arg) c.4670T>G (p.Leu1557Arg) c.4970T>G (p.Leu1657Arg) n.5421T>G | |
| 9 | g.104798515A>G | CA374314115 | ABCA1 | c.5027T>C (p.Leu1676Pro) c.5033T>C (p.Leu1678Pro) c.4853T>C (p.Leu1618Pro) c.5108T>C (p.Leu1703Pro) c.5102T>C (p.Leu1701Pro) c.4670T>C (p.Leu1557Pro) c.4970T>C (p.Leu1657Pro) n.5421T>C | |
| 9 | g.104798515A>T | CA374314116 | ABCA1 | c.5027T>A (p.Leu1676Gln) c.5033T>A (p.Leu1678Gln) c.4853T>A (p.Leu1618Gln) c.5108T>A (p.Leu1703Gln) c.5102T>A (p.Leu1701Gln) c.4670T>A (p.Leu1557Gln) c.4970T>A (p.Leu1657Gln) n.5421T>A | |
| 9 | g.104798516G>A | CA466503144 | ABCA1 | c.5026C>T (p.Leu1676=) c.5032C>T (p.Leu1678=) c.4852C>T (p.Leu1618=) c.5107C>T (p.Leu1703=) c.5101C>T (p.Leu1701=) c.4669C>T (p.Leu1557=) c.4969C>T (p.Leu1657=) n.5420C>T | gnomAD v4 |
| 9 | g.104798516G>C | CA374314117 | ABCA1 | c.5026C>G (p.Leu1676Val) c.5032C>G (p.Leu1678Val) c.4852C>G (p.Leu1618Val) c.5107C>G (p.Leu1703Val) c.5101C>G (p.Leu1701Val) c.4669C>G (p.Leu1557Val) c.4969C>G (p.Leu1657Val) n.5420C>G | |
| 9 | g.104798516G>T | CA374314118 | ABCA1 | c.5026C>A (p.Leu1676Met) c.5032C>A (p.Leu1678Met) c.4852C>A (p.Leu1618Met) c.5107C>A (p.Leu1703Met) c.5101C>A (p.Leu1701Met) c.4669C>A (p.Leu1557Met) c.4969C>A (p.Leu1657Met) n.5420C>A | |
| 9 | g.104798517G>A | CA466503145 | ABCA1 | c.5025C>T (p.Phe1675=) c.5031C>T (p.Phe1677=) c.4851C>T (p.Phe1617=) c.5106C>T (p.Phe1702=) c.5100C>T (p.Phe1700=) c.4668C>T (p.Phe1556=) c.4968C>T (p.Phe1656=) n.5419C>T | |
| 9 | g.104798517G>C | CA374314119 | ABCA1 | c.5025C>G (p.Phe1675Leu) c.5031C>G (p.Phe1677Leu) c.4851C>G (p.Phe1617Leu) c.5106C>G (p.Phe1702Leu) c.5100C>G (p.Phe1700Leu) c.4668C>G (p.Phe1556Leu) c.4968C>G (p.Phe1656Leu) n.5419C>G | |
| 9 | g.104798517G>T | CA374314120 | ABCA1 | c.5025C>A (p.Phe1675Leu) c.5031C>A (p.Phe1677Leu) c.4851C>A (p.Phe1617Leu) c.5106C>A (p.Phe1702Leu) c.5100C>A (p.Phe1700Leu) c.4668C>A (p.Phe1556Leu) c.4968C>A (p.Phe1656Leu) n.5419C>A | |
| 9 | g.104798518A= | CA1869916033 | ABCA1 | c.5024T= (p.Phe1675=) c.5030T= (p.Phe1677=) c.4850T= (p.Phe1617=) c.5105T= (p.Phe1702=) c.5099T= (p.Phe1700=) c.4667T= (p.Phe1556=) c.4967T= (p.Phe1656=) n.5418T= | |
| 9 | g.104798518A>C | CA374314121 | ABCA1 | c.5024T>G (p.Phe1675Cys) c.5030T>G (p.Phe1677Cys) c.4850T>G (p.Phe1617Cys) c.5105T>G (p.Phe1702Cys) c.5099T>G (p.Phe1700Cys) c.4667T>G (p.Phe1556Cys) c.4967T>G (p.Phe1656Cys) n.5418T>G | |
| 9 | g.104798518A>G | CA374314122 | ABCA1 | c.5024T>C (p.Phe1675Ser) c.5030T>C (p.Phe1677Ser) c.4850T>C (p.Phe1617Ser) c.5105T>C (p.Phe1702Ser) c.5099T>C (p.Phe1700Ser) c.4667T>C (p.Phe1556Ser) c.4967T>C (p.Phe1656Ser) n.5418T>C | |
| 9 | g.104798518A>T | CA374314123 | ABCA1 | c.5024T>A (p.Phe1675Tyr) c.5030T>A (p.Phe1677Tyr) c.4850T>A (p.Phe1617Tyr) c.5105T>A (p.Phe1702Tyr) c.5099T>A (p.Phe1700Tyr) c.4667T>A (p.Phe1556Tyr) c.4967T>A (p.Phe1656Tyr) n.5418T>A | ClinVar dbSNP gnomAD v4 |
| 9 | g.104798519A>C | CA374314126 | ABCA1 | c.5023T>G (p.Phe1675Val) c.5029T>G (p.Phe1677Val) c.4849T>G (p.Phe1617Val) c.5104T>G (p.Phe1702Val) c.5098T>G (p.Phe1700Val) c.4666T>G (p.Phe1556Val) c.4966T>G (p.Phe1656Val) n.5417T>G | |
| 9 | g.104798519A>G | CA374314125 | ABCA1 | c.5023T>C (p.Phe1675Leu) c.5029T>C (p.Phe1677Leu) c.4849T>C (p.Phe1617Leu) c.5104T>C (p.Phe1702Leu) c.5098T>C (p.Phe1700Leu) c.4666T>C (p.Phe1556Leu) c.4966T>C (p.Phe1656Leu) n.5417T>C |