Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.104798478C>A | CA374314034 | ABCA1 | c.5064G>T (p.Gln1688His) c.5070G>T (p.Gln1690His) c.4890G>T (p.Gln1630His) c.5145G>T (p.Gln1715His) c.5139G>T (p.Gln1713His) c.4707G>T (p.Gln1569His) c.5007G>T (p.Gln1669His) n.5458G>T | |
9 | g.104798478C>G | CA374314035 | ABCA1 | c.5064G>C (p.Gln1688His) c.5070G>C (p.Gln1690His) c.4890G>C (p.Gln1630His) c.5145G>C (p.Gln1715His) c.5139G>C (p.Gln1713His) c.4707G>C (p.Gln1569His) c.5007G>C (p.Gln1669His) n.5458G>C | |
9 | g.104798478C>T | CA466503119 | ABCA1 | c.5064G>A (p.Gln1688=) c.5070G>A (p.Gln1690=) c.4890G>A (p.Gln1630=) c.5145G>A (p.Gln1715=) c.5139G>A (p.Gln1713=) c.4707G>A (p.Gln1569=) c.5007G>A (p.Gln1669=) n.5458G>A | |
9 | g.104798479T>A | CA374314036 | ABCA1 | c.5063A>T (p.Gln1688Leu) c.5069A>T (p.Gln1690Leu) c.4889A>T (p.Gln1630Leu) c.5144A>T (p.Gln1715Leu) c.5138A>T (p.Gln1713Leu) c.4706A>T (p.Gln1569Leu) c.5006A>T (p.Gln1669Leu) n.5457A>T | |
9 | g.104798479T>C | CA374314037 | ABCA1 | c.5063A>G (p.Gln1688Arg) c.5069A>G (p.Gln1690Arg) c.4889A>G (p.Gln1630Arg) c.5144A>G (p.Gln1715Arg) c.5138A>G (p.Gln1713Arg) c.4706A>G (p.Gln1569Arg) c.5006A>G (p.Gln1669Arg) n.5457A>G | |
9 | g.104798479T>G | CA374314038 | ABCA1 | c.5063A>C (p.Gln1688Pro) c.5069A>C (p.Gln1690Pro) c.4889A>C (p.Gln1630Pro) c.5144A>C (p.Gln1715Pro) c.5138A>C (p.Gln1713Pro) c.4706A>C (p.Gln1569Pro) c.5006A>C (p.Gln1669Pro) n.5457A>C | |
9 | g.104798480G>A | CA374314039 | ABCA1 | c.5062C>T (p.Gln1688Ter) c.5068C>T (p.Gln1690Ter) c.4888C>T (p.Gln1630Ter) c.5143C>T (p.Gln1715Ter) c.5137C>T (p.Gln1713Ter) c.4705C>T (p.Gln1569Ter) c.5005C>T (p.Gln1669Ter) n.5456C>T | |
9 | g.104798480G>C | CA374314041 | ABCA1 | c.5062C>G (p.Gln1688Glu) c.5068C>G (p.Gln1690Glu) c.4888C>G (p.Gln1630Glu) c.5143C>G (p.Gln1715Glu) c.5137C>G (p.Gln1713Glu) c.4705C>G (p.Gln1569Glu) c.5005C>G (p.Gln1669Glu) n.5456C>G | |
9 | g.104798480G>T | CA374314040 | ABCA1 | c.5062C>A (p.Gln1688Lys) c.5068C>A (p.Gln1690Lys) c.4888C>A (p.Gln1630Lys) c.5143C>A (p.Gln1715Lys) c.5137C>A (p.Gln1713Lys) c.4705C>A (p.Gln1569Lys) c.5005C>A (p.Gln1669Lys) n.5456C>A | |
9 | g.104798481C>A | CA466503120 | ABCA1 | c.5061G>T (p.Leu1687=) c.5067G>T (p.Leu1689=) c.4887G>T (p.Leu1629=) c.5142G>T (p.Leu1714=) c.5136G>T (p.Leu1712=) c.4704G>T (p.Leu1568=) c.5004G>T (p.Leu1668=) n.5455G>T | |
9 | g.104798481C= | CA1869915907 | ABCA1 | c.5061G= (p.Leu1687=) c.5067G= (p.Leu1689=) c.4887G= (p.Leu1629=) c.5142G= (p.Leu1714=) c.5136G= (p.Leu1712=) c.4704G= (p.Leu1568=) c.5004G= (p.Leu1668=) n.5455G= | |
9 | g.104798481C>G | CA466503121 | ABCA1 | c.5061G>C (p.Leu1687=) c.5067G>C (p.Leu1689=) c.4887G>C (p.Leu1629=) c.5142G>C (p.Leu1714=) c.5136G>C (p.Leu1712=) c.4704G>C (p.Leu1568=) c.5004G>C (p.Leu1668=) n.5455G>C | |
9 | g.104798481C>T | CA5167951 | ABCA1 | c.5061G>A (p.Leu1687=) c.5067G>A (p.Leu1689=) c.4887G>A (p.Leu1629=) c.5142G>A (p.Leu1714=) c.5136G>A (p.Leu1712=) c.4704G>A (p.Leu1568=) c.5004G>A (p.Leu1668=) n.5455G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.104798482A>C | CA374314042 | ABCA1 | c.5060T>G (p.Leu1687Arg) c.5066T>G (p.Leu1689Arg) c.4886T>G (p.Leu1629Arg) c.5141T>G (p.Leu1714Arg) c.5135T>G (p.Leu1712Arg) c.4703T>G (p.Leu1568Arg) c.5003T>G (p.Leu1668Arg) n.5454T>G | |
9 | g.104798482A>G | CA374314043 | ABCA1 | c.5060T>C (p.Leu1687Pro) c.5066T>C (p.Leu1689Pro) c.4886T>C (p.Leu1629Pro) c.5141T>C (p.Leu1714Pro) c.5135T>C (p.Leu1712Pro) c.4703T>C (p.Leu1568Pro) c.5003T>C (p.Leu1668Pro) n.5454T>C | |
9 | g.104798482A>T | CA374314044 | ABCA1 | c.5060T>A (p.Leu1687Gln) c.5066T>A (p.Leu1689Gln) c.4886T>A (p.Leu1629Gln) c.5141T>A (p.Leu1714Gln) c.5135T>A (p.Leu1712Gln) c.4703T>A (p.Leu1568Gln) c.5003T>A (p.Leu1668Gln) n.5454T>A | ClinVar |
9 | g.104798483G>A | CA466503122 | ABCA1 | c.5059C>T (p.Leu1687=) c.5065C>T (p.Leu1689=) c.4885C>T (p.Leu1629=) c.5140C>T (p.Leu1714=) c.5134C>T (p.Leu1712=) c.4702C>T (p.Leu1568=) c.5002C>T (p.Leu1668=) n.5453C>T | |
9 | g.104798483G>C | CA374314045 | ABCA1 | c.5059C>G (p.Leu1687Val) c.5065C>G (p.Leu1689Val) c.4885C>G (p.Leu1629Val) c.5140C>G (p.Leu1714Val) c.5134C>G (p.Leu1712Val) c.4702C>G (p.Leu1568Val) c.5002C>G (p.Leu1668Val) n.5453C>G | gnomAD v4 |
9 | g.104798483G>T | CA374314046 | ABCA1 | c.5059C>A (p.Leu1687Met) c.5065C>A (p.Leu1689Met) c.4885C>A (p.Leu1629Met) c.5140C>A (p.Leu1714Met) c.5134C>A (p.Leu1712Met) c.4702C>A (p.Leu1568Met) c.5002C>A (p.Leu1668Met) n.5453C>A | |
9 | g.104798484G>A | CA466503123 | ABCA1 | c.5058C>T (p.His1686=) c.5064C>T (p.His1688=) c.4884C>T (p.His1628=) c.5139C>T (p.His1713=) c.5133C>T (p.His1711=) c.4701C>T (p.His1567=) c.5001C>T (p.His1667=) n.5452C>T | |
9 | g.104798484G>C | CA374314047 | ABCA1 | c.5058C>G (p.His1686Gln) c.5064C>G (p.His1688Gln) c.4884C>G (p.His1628Gln) c.5139C>G (p.His1713Gln) c.5133C>G (p.His1711Gln) c.4701C>G (p.His1567Gln) c.5001C>G (p.His1667Gln) n.5452C>G | |
9 | g.104798484G>T | CA374314048 | ABCA1 | c.5058C>A (p.His1686Gln) c.5064C>A (p.His1688Gln) c.4884C>A (p.His1628Gln) c.5139C>A (p.His1713Gln) c.5133C>A (p.His1711Gln) c.4701C>A (p.His1567Gln) c.5001C>A (p.His1667Gln) n.5452C>A | |
9 | g.104798485T>A | CA374314049 | ABCA1 | c.5057A>T (p.His1686Leu) c.5063A>T (p.His1688Leu) c.4883A>T (p.His1628Leu) c.5138A>T (p.His1713Leu) c.5132A>T (p.His1711Leu) c.4700A>T (p.His1567Leu) c.5000A>T (p.His1667Leu) n.5451A>T | COSMIC |
9 | g.104798485T>C | CA374314050 | ABCA1 | c.5057A>G (p.His1686Arg) c.5063A>G (p.His1688Arg) c.4883A>G (p.His1628Arg) c.5138A>G (p.His1713Arg) c.5132A>G (p.His1711Arg) c.4700A>G (p.His1567Arg) c.5000A>G (p.His1667Arg) n.5451A>G | |
9 | g.104798485T>G | CA374314051 | ABCA1 | c.5057A>C (p.His1686Pro) c.5063A>C (p.His1688Pro) c.4883A>C (p.His1628Pro) c.5138A>C (p.His1713Pro) c.5132A>C (p.His1711Pro) c.4700A>C (p.His1567Pro) c.5000A>C (p.His1667Pro) n.5451A>C | |
9 | g.104798486G>A | CA374314053 | ABCA1 | c.5056C>T (p.His1686Tyr) c.5062C>T (p.His1688Tyr) c.4882C>T (p.His1628Tyr) c.5137C>T (p.His1713Tyr) c.5131C>T (p.His1711Tyr) c.4699C>T (p.His1567Tyr) c.4999C>T (p.His1667Tyr) n.5450C>T | |
9 | g.104798486G>C | CA374314054 | ABCA1 | c.5056C>G (p.His1686Asp) c.5062C>G (p.His1688Asp) c.4882C>G (p.His1628Asp) c.5137C>G (p.His1713Asp) c.5131C>G (p.His1711Asp) c.4699C>G (p.His1567Asp) c.4999C>G (p.His1667Asp) n.5450C>G | |
9 | g.104798486G>T | CA374314052 | ABCA1 | c.5056C>A (p.His1686Asn) c.5062C>A (p.His1688Asn) c.4882C>A (p.His1628Asn) c.5137C>A (p.His1713Asn) c.5131C>A (p.His1711Asn) c.4699C>A (p.His1567Asn) c.4999C>A (p.His1667Asn) n.5450C>A | |
9 | g.104798487T>A | CA374314056 | ABCA1 | c.5055A>T (p.Lys1685Asn) c.5061A>T (p.Lys1687Asn) c.4881A>T (p.Lys1627Asn) c.5136A>T (p.Lys1712Asn) c.5130A>T (p.Lys1710Asn) c.4698A>T (p.Lys1566Asn) c.4998A>T (p.Lys1666Asn) n.5449A>T | |
9 | g.104798487T>C | CA466503124 | ABCA1 | c.5055A>G (p.Lys1685=) c.5061A>G (p.Lys1687=) c.4881A>G (p.Lys1627=) c.5136A>G (p.Lys1712=) c.5130A>G (p.Lys1710=) c.4698A>G (p.Lys1566=) c.4998A>G (p.Lys1666=) n.5449A>G | |
9 | g.104798487T>G | CA374314055 | ABCA1 | c.5055A>C (p.Lys1685Asn) c.5061A>C (p.Lys1687Asn) c.4881A>C (p.Lys1627Asn) c.5136A>C (p.Lys1712Asn) c.5130A>C (p.Lys1710Asn) c.4698A>C (p.Lys1566Asn) c.4998A>C (p.Lys1666Asn) n.5449A>C | |
9 | g.104798488T>A | CA374314057 | ABCA1 | c.5054A>T (p.Lys1685Ile) c.5060A>T (p.Lys1687Ile) c.4880A>T (p.Lys1627Ile) c.5135A>T (p.Lys1712Ile) c.5129A>T (p.Lys1710Ile) c.4697A>T (p.Lys1566Ile) c.4997A>T (p.Lys1666Ile) n.5448A>T | |
9 | g.104798488T>C | CA374314058 | ABCA1 | c.5054A>G (p.Lys1685Arg) c.5060A>G (p.Lys1687Arg) c.4880A>G (p.Lys1627Arg) c.5135A>G (p.Lys1712Arg) c.5129A>G (p.Lys1710Arg) c.4697A>G (p.Lys1566Arg) c.4997A>G (p.Lys1666Arg) n.5448A>G | |
9 | g.104798488T>G | CA374314059 | ABCA1 | c.5054A>C (p.Lys1685Thr) c.5060A>C (p.Lys1687Thr) c.4880A>C (p.Lys1627Thr) c.5135A>C (p.Lys1712Thr) c.5129A>C (p.Lys1710Thr) c.4697A>C (p.Lys1566Thr) c.4997A>C (p.Lys1666Thr) n.5448A>C | |
9 | g.104798489T>A | CA374314060 | ABCA1 | c.5053A>T (p.Lys1685Ter) c.5059A>T (p.Lys1687Ter) c.4879A>T (p.Lys1627Ter) c.5134A>T (p.Lys1712Ter) c.5128A>T (p.Lys1710Ter) c.4696A>T (p.Lys1566Ter) c.4996A>T (p.Lys1666Ter) n.5447A>T | |
9 | g.104798489T>C | CA374314061 | ABCA1 | c.5053A>G (p.Lys1685Glu) c.5059A>G (p.Lys1687Glu) c.4879A>G (p.Lys1627Glu) c.5134A>G (p.Lys1712Glu) c.5128A>G (p.Lys1710Glu) c.4696A>G (p.Lys1566Glu) c.4996A>G (p.Lys1666Glu) n.5447A>G | gnomAD v4 |
9 | g.104798489T>G | CA374314062 | ABCA1 | c.5053A>C (p.Lys1685Gln) c.5059A>C (p.Lys1687Gln) c.4879A>C (p.Lys1627Gln) c.5134A>C (p.Lys1712Gln) c.5128A>C (p.Lys1710Gln) c.4696A>C (p.Lys1566Gln) c.4996A>C (p.Lys1666Gln) n.5447A>C | |
9 | g.104798490T>A | CA466503125 | ABCA1 | c.5052A>T (p.Ala1684=) c.5058A>T (p.Ala1686=) c.4878A>T (p.Ala1626=) c.5133A>T (p.Ala1711=) c.5127A>T (p.Ala1709=) c.4695A>T (p.Ala1565=) c.4995A>T (p.Ala1665=) n.5446A>T | |
9 | g.104798490T>C | CA466503126 | ABCA1 | c.5052A>G (p.Ala1684=) c.5058A>G (p.Ala1686=) c.4878A>G (p.Ala1626=) c.5133A>G (p.Ala1711=) c.5127A>G (p.Ala1709=) c.4695A>G (p.Ala1565=) c.4995A>G (p.Ala1665=) n.5446A>G | |
9 | g.104798490T>G | CA466503127 | ABCA1 | c.5052A>C (p.Ala1684=) c.5058A>C (p.Ala1686=) c.4878A>C (p.Ala1626=) c.5133A>C (p.Ala1711=) c.5127A>C (p.Ala1709=) c.4695A>C (p.Ala1565=) c.4995A>C (p.Ala1665=) n.5446A>C | |
9 | g.104798491G>A | CA374314064 | ABCA1 | c.5051C>T (p.Ala1684Val) c.5057C>T (p.Ala1686Val) c.4877C>T (p.Ala1626Val) c.5132C>T (p.Ala1711Val) c.5126C>T (p.Ala1709Val) c.4694C>T (p.Ala1565Val) c.4994C>T (p.Ala1665Val) n.5445C>T | |
9 | g.104798491G>C | CA5167952 | ABCA1 | c.5051C>G (p.Ala1684Gly) c.5057C>G (p.Ala1686Gly) c.4877C>G (p.Ala1626Gly) c.5132C>G (p.Ala1711Gly) c.5126C>G (p.Ala1709Gly) c.4694C>G (p.Ala1565Gly) c.4994C>G (p.Ala1665Gly) n.5445C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.104798491G= | CA1869915914 | ABCA1 | c.5051C= (p.Ala1684=) c.5057C= (p.Ala1686=) c.4877C= (p.Ala1626=) c.5132C= (p.Ala1711=) c.5126C= (p.Ala1709=) c.4694C= (p.Ala1565=) c.4994C= (p.Ala1665=) n.5445C= | |
9 | g.104798491G>T | CA374314063 | ABCA1 | c.5051C>A (p.Ala1684Glu) c.5057C>A (p.Ala1686Glu) c.4877C>A (p.Ala1626Glu) c.5132C>A (p.Ala1711Glu) c.5126C>A (p.Ala1709Glu) c.4694C>A (p.Ala1565Glu) c.4994C>A (p.Ala1665Glu) n.5445C>A | |
9 | g.104798492C>A | CA374314065 | ABCA1 | c.5050G>T (p.Ala1684Ser) c.5056G>T (p.Ala1686Ser) c.4876G>T (p.Ala1626Ser) c.5131G>T (p.Ala1711Ser) c.5125G>T (p.Ala1709Ser) c.4693G>T (p.Ala1565Ser) c.4993G>T (p.Ala1665Ser) n.5444G>T | |
9 | g.104798492C>G | CA374314066 | ABCA1 | c.5050G>C (p.Ala1684Pro) c.5056G>C (p.Ala1686Pro) c.4876G>C (p.Ala1626Pro) c.5131G>C (p.Ala1711Pro) c.5125G>C (p.Ala1709Pro) c.4693G>C (p.Ala1565Pro) c.4993G>C (p.Ala1665Pro) n.5444G>C | |
9 | g.104798492C>T | CA374314067 | ABCA1 | c.5050G>A (p.Ala1684Thr) c.5056G>A (p.Ala1686Thr) c.4876G>A (p.Ala1626Thr) c.5131G>A (p.Ala1711Thr) c.5125G>A (p.Ala1709Thr) c.4693G>A (p.Ala1565Thr) c.4993G>A (p.Ala1665Thr) n.5444G>A | gnomAD v4 |
9 | g.104798493T>A | CA374314068 | ABCA1 | c.5049A>T (p.Lys1683Asn) c.5055A>T (p.Lys1685Asn) c.4875A>T (p.Lys1625Asn) c.5130A>T (p.Lys1710Asn) c.5124A>T (p.Lys1708Asn) c.4692A>T (p.Lys1564Asn) c.4992A>T (p.Lys1664Asn) n.5443A>T | |
9 | g.104798493T>C | CA466503128 | ABCA1 | c.5049A>G (p.Lys1683=) c.5055A>G (p.Lys1685=) c.4875A>G (p.Lys1625=) c.5130A>G (p.Lys1710=) c.5124A>G (p.Lys1708=) c.4692A>G (p.Lys1564=) c.4992A>G (p.Lys1664=) n.5443A>G | |
9 | g.104798493T>G | CA374314069 | ABCA1 | c.5049A>C (p.Lys1683Asn) c.5055A>C (p.Lys1685Asn) c.4875A>C (p.Lys1625Asn) c.5130A>C (p.Lys1710Asn) c.5124A>C (p.Lys1708Asn) c.4692A>C (p.Lys1564Asn) c.4992A>C (p.Lys1664Asn) n.5443A>C | |
9 | g.104798494T>A | CA374314070 | ABCA1 | c.5048A>T (p.Lys1683Ile) c.5054A>T (p.Lys1685Ile) c.4874A>T (p.Lys1625Ile) c.5129A>T (p.Lys1710Ile) c.5123A>T (p.Lys1708Ile) c.4691A>T (p.Lys1564Ile) c.4991A>T (p.Lys1664Ile) n.5442A>T | |
9 | g.104798494T>C | CA374314072 | ABCA1 | c.5048A>G (p.Lys1683Arg) c.5054A>G (p.Lys1685Arg) c.4874A>G (p.Lys1625Arg) c.5129A>G (p.Lys1710Arg) c.5123A>G (p.Lys1708Arg) c.4691A>G (p.Lys1564Arg) c.4991A>G (p.Lys1664Arg) n.5442A>G | |
9 | g.104798494T>G | CA374314071 | ABCA1 | c.5048A>C (p.Lys1683Thr) c.5054A>C (p.Lys1685Thr) c.4874A>C (p.Lys1625Thr) c.5129A>C (p.Lys1710Thr) c.5123A>C (p.Lys1708Thr) c.4691A>C (p.Lys1564Thr) c.4991A>C (p.Lys1664Thr) n.5442A>C | |
9 | g.104798495T>A | CA374314073 | ABCA1 | c.5047A>T (p.Lys1683Ter) c.5053A>T (p.Lys1685Ter) c.4873A>T (p.Lys1625Ter) c.5128A>T (p.Lys1710Ter) c.5122A>T (p.Lys1708Ter) c.4690A>T (p.Lys1564Ter) c.4990A>T (p.Lys1664Ter) n.5441A>T | |
9 | g.104798495T>C | CA5167953 | ABCA1 | c.5047A>G (p.Lys1683Glu) c.5053A>G (p.Lys1685Glu) c.4873A>G (p.Lys1625Glu) c.5128A>G (p.Lys1710Glu) c.5122A>G (p.Lys1708Glu) c.4690A>G (p.Lys1564Glu) c.4990A>G (p.Lys1664Glu) n.5441A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.104798495T>G | CA374314074 | ABCA1 | c.5047A>C (p.Lys1683Gln) c.5053A>C (p.Lys1685Gln) c.4873A>C (p.Lys1625Gln) c.5128A>C (p.Lys1710Gln) c.5122A>C (p.Lys1708Gln) c.4690A>C (p.Lys1564Gln) c.4990A>C (p.Lys1664Gln) n.5441A>C | |
9 | g.104798495T= | CA1869915925 | ABCA1 | c.5047A= (p.Lys1683=) c.5053A= (p.Lys1685=) c.4873A= (p.Lys1625=) c.5128A= (p.Lys1710=) c.5122A= (p.Lys1708=) c.4690A= (p.Lys1564=) c.4990A= (p.Lys1664=) n.5441A= | |
9 | g.104798496G>A | CA466503129 | ABCA1 | c.5046C>T (p.Ser1682=) c.5052C>T (p.Ser1684=) c.4872C>T (p.Ser1624=) c.5127C>T (p.Ser1709=) c.5121C>T (p.Ser1707=) c.4689C>T (p.Ser1563=) c.4989C>T (p.Ser1663=) n.5440C>T | |
9 | g.104798496G>C | CA374314075 | ABCA1 | c.5046C>G (p.Ser1682Arg) c.5052C>G (p.Ser1684Arg) c.4872C>G (p.Ser1624Arg) c.5127C>G (p.Ser1709Arg) c.5121C>G (p.Ser1707Arg) c.4689C>G (p.Ser1563Arg) c.4989C>G (p.Ser1663Arg) n.5440C>G | |
9 | g.104798496G= | CA1869915938 | ABCA1 | c.5046C= (p.Ser1682=) c.5052C= (p.Ser1684=) c.4872C= (p.Ser1624=) c.5127C= (p.Ser1709=) c.5121C= (p.Ser1707=) c.4689C= (p.Ser1563=) c.4989C= (p.Ser1663=) n.5440C= | |
9 | g.104798496G>T | CA197361844 | ABCA1 | c.5046C>A (p.Ser1682Arg) c.5052C>A (p.Ser1684Arg) c.4872C>A (p.Ser1624Arg) c.5127C>A (p.Ser1709Arg) c.5121C>A (p.Ser1707Arg) c.4689C>A (p.Ser1563Arg) c.4989C>A (p.Ser1663Arg) n.5440C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.104798497C>A | CA374314076 | ABCA1 | c.5045G>T (p.Ser1682Ile) c.5051G>T (p.Ser1684Ile) c.4871G>T (p.Ser1624Ile) c.5126G>T (p.Ser1709Ile) c.5120G>T (p.Ser1707Ile) c.4688G>T (p.Ser1563Ile) c.4988G>T (p.Ser1663Ile) n.5439G>T | |
9 | g.104798497C>G | CA374314077 | ABCA1 | c.5045G>C (p.Ser1682Thr) c.5051G>C (p.Ser1684Thr) c.4871G>C (p.Ser1624Thr) c.5126G>C (p.Ser1709Thr) c.5120G>C (p.Ser1707Thr) c.4688G>C (p.Ser1563Thr) c.4988G>C (p.Ser1663Thr) n.5439G>C | gnomAD v4 |
9 | g.104798497C>T | CA374314078 | ABCA1 | c.5045G>A (p.Ser1682Asn) c.5051G>A (p.Ser1684Asn) c.4871G>A (p.Ser1624Asn) c.5126G>A (p.Ser1709Asn) c.5120G>A (p.Ser1707Asn) c.4688G>A (p.Ser1563Asn) c.4988G>A (p.Ser1663Asn) n.5439G>A | |
9 | g.104798498T>A | CA374314079 | ABCA1 | c.5044A>T (p.Ser1682Cys) c.5050A>T (p.Ser1684Cys) c.4870A>T (p.Ser1624Cys) c.5125A>T (p.Ser1709Cys) c.5119A>T (p.Ser1707Cys) c.4687A>T (p.Ser1563Cys) c.4987A>T (p.Ser1663Cys) n.5438A>T | |
9 | g.104798498T>C | CA374314080 | ABCA1 | c.5044A>G (p.Ser1682Gly) c.5050A>G (p.Ser1684Gly) c.4870A>G (p.Ser1624Gly) c.5125A>G (p.Ser1709Gly) c.5119A>G (p.Ser1707Gly) c.4687A>G (p.Ser1563Gly) c.4987A>G (p.Ser1663Gly) n.5438A>G | |
9 | g.104798498T>G | CA374314081 | ABCA1 | c.5044A>C (p.Ser1682Arg) c.5050A>C (p.Ser1684Arg) c.4870A>C (p.Ser1624Arg) c.5125A>C (p.Ser1709Arg) c.5119A>C (p.Ser1707Arg) c.4687A>C (p.Ser1563Arg) c.4987A>C (p.Ser1663Arg) n.5438A>C | ClinVar dbSNP gnomAD v4 |
9 | g.104798499G>A | CA466503130 | ABCA1 | c.5043C>T (p.Val1681=) c.5049C>T (p.Val1683=) c.4869C>T (p.Val1623=) c.5124C>T (p.Val1708=) c.5118C>T (p.Val1706=) c.4686C>T (p.Val1562=) c.4986C>T (p.Val1662=) n.5437C>T | |
9 | g.104798499G>C | CA466503131 | ABCA1 | c.5043C>G (p.Val1681=) c.5049C>G (p.Val1683=) c.4869C>G (p.Val1623=) c.5124C>G (p.Val1708=) c.5118C>G (p.Val1706=) c.4686C>G (p.Val1562=) c.4986C>G (p.Val1662=) n.5437C>G | |
9 | g.104798499G>T | CA466503132 | ABCA1 | c.5043C>A (p.Val1681=) c.5049C>A (p.Val1683=) c.4869C>A (p.Val1623=) c.5124C>A (p.Val1708=) c.5118C>A (p.Val1706=) c.4686C>A (p.Val1562=) c.4986C>A (p.Val1662=) n.5437C>A | |
9 | g.104798500A= | CA1869915974 | ABCA1 | c.5042T= (p.Val1681=) c.5048T= (p.Val1683=) c.4868T= (p.Val1623=) c.5123T= (p.Val1708=) c.5117T= (p.Val1706=) c.4685T= (p.Val1562=) c.4985T= (p.Val1662=) n.5436T= | |
9 | g.104798500A>C | CA374314082 | ABCA1 | c.5042T>G (p.Val1681Gly) c.5048T>G (p.Val1683Gly) c.4868T>G (p.Val1623Gly) c.5123T>G (p.Val1708Gly) c.5117T>G (p.Val1706Gly) c.4685T>G (p.Val1562Gly) c.4985T>G (p.Val1662Gly) n.5436T>G | dbSNP gnomAD v4 |
9 | g.104798500A>G | CA374314084 | ABCA1 | c.5042T>C (p.Val1681Ala) c.5048T>C (p.Val1683Ala) c.4868T>C (p.Val1623Ala) c.5123T>C (p.Val1708Ala) c.5117T>C (p.Val1706Ala) c.4685T>C (p.Val1562Ala) c.4985T>C (p.Val1662Ala) n.5436T>C | |
9 | g.104798500A>T | CA374314083 | ABCA1 | c.5042T>A (p.Val1681Asp) c.5048T>A (p.Val1683Asp) c.4868T>A (p.Val1623Asp) c.5123T>A (p.Val1708Asp) c.5117T>A (p.Val1706Asp) c.4685T>A (p.Val1562Asp) c.4985T>A (p.Val1662Asp) n.5436T>A | |
9 | g.104798501C>A | CA374314085 | ABCA1 | c.5041G>T (p.Val1681Phe) c.5047G>T (p.Val1683Phe) c.4867G>T (p.Val1623Phe) c.5122G>T (p.Val1708Phe) c.5116G>T (p.Val1706Phe) c.4684G>T (p.Val1562Phe) c.4984G>T (p.Val1662Phe) n.5435G>T | |
9 | g.104798501C>G | CA374314086 | ABCA1 | c.5041G>C (p.Val1681Leu) c.5047G>C (p.Val1683Leu) c.4867G>C (p.Val1623Leu) c.5122G>C (p.Val1708Leu) c.5116G>C (p.Val1706Leu) c.4684G>C (p.Val1562Leu) c.4984G>C (p.Val1662Leu) n.5435G>C | |
9 | g.104798501C>T | CA374314087 | ABCA1 | c.5041G>A (p.Val1681Ile) c.5047G>A (p.Val1683Ile) c.4867G>A (p.Val1623Ile) c.5122G>A (p.Val1708Ile) c.5116G>A (p.Val1706Ile) c.4684G>A (p.Val1562Ile) c.4984G>A (p.Val1662Ile) n.5435G>A | gnomAD v4 |
9 | g.104798502C>A | CA466503134 | ABCA1 | c.5040G>T (p.Arg1680=) c.5046G>T (p.Arg1682=) c.4866G>T (p.Arg1622=) c.5121G>T (p.Arg1707=) c.5115G>T (p.Arg1705=) c.4683G>T (p.Arg1561=) c.4983G>T (p.Arg1661=) n.5434G>T | |
9 | g.104798502C>G | CA466503135 | ABCA1 | c.5040G>C (p.Arg1680=) c.5046G>C (p.Arg1682=) c.4866G>C (p.Arg1622=) c.5121G>C (p.Arg1707=) c.5115G>C (p.Arg1705=) c.4683G>C (p.Arg1561=) c.4983G>C (p.Arg1661=) n.5434G>C | |
9 | g.104798502C>T | CA466503136 | ABCA1 | c.5040G>A (p.Arg1680=) c.5046G>A (p.Arg1682=) c.4866G>A (p.Arg1622=) c.5121G>A (p.Arg1707=) c.5115G>A (p.Arg1705=) c.4683G>A (p.Arg1561=) c.4983G>A (p.Arg1661=) n.5434G>A | |
9 | g.104798503C>A | CA374314088 | ABCA1 | c.5039G>T (p.Arg1680Leu) c.5045G>T (p.Arg1682Leu) c.4865G>T (p.Arg1622Leu) c.5120G>T (p.Arg1707Leu) c.5114G>T (p.Arg1705Leu) c.4682G>T (p.Arg1561Leu) c.4982G>T (p.Arg1661Leu) n.5433G>T | dbSNP |
9 | g.104798503C= | CA1869915987 | ABCA1 | c.5039G= (p.Arg1680=) c.5045G= (p.Arg1682=) c.4865G= (p.Arg1622=) c.5120G= (p.Arg1707=) c.5114G= (p.Arg1705=) c.4682G= (p.Arg1561=) c.4982G= (p.Arg1661=) n.5433G= | |
9 | g.104798503C>G | CA374314089 | ABCA1 | c.5039G>C (p.Arg1680Pro) c.5045G>C (p.Arg1682Pro) c.4865G>C (p.Arg1622Pro) c.5120G>C (p.Arg1707Pro) c.5114G>C (p.Arg1705Pro) c.4682G>C (p.Arg1561Pro) c.4982G>C (p.Arg1661Pro) n.5433G>C | gnomAD v4 |
9 | g.104798503C>T | CA5167954 | ABCA1 | c.5039G>A (p.Arg1680Gln) c.5045G>A (p.Arg1682Gln) c.4865G>A (p.Arg1622Gln) c.5120G>A (p.Arg1707Gln) c.5114G>A (p.Arg1705Gln) c.4682G>A (p.Arg1561Gln) c.4982G>A (p.Arg1661Gln) n.5433G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
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 | |
9 | g.104798519A>T | CA374314124 | ABCA1 | c.5023T>A (p.Phe1675Ile) c.5029T>A (p.Phe1677Ile) c.4849T>A (p.Phe1617Ile) c.5104T>A (p.Phe1702Ile) c.5098T>A (p.Phe1700Ile) c.4666T>A (p.Phe1556Ile) c.4966T>A (p.Phe1656Ile) n.5417T>A | |
9 | g.104798520T>A | CA466503147 | ABCA1 | c.5022A>T (p.Val1674=) c.5028A>T (p.Val1676=) c.4848A>T (p.Val1616=) c.5103A>T (p.Val1701=) c.5097A>T (p.Val1699=) c.4665A>T (p.Val1555=) c.4965A>T (p.Val1655=) n.5416A>T | |
9 | g.104798520T>C | CA466503148 | ABCA1 | c.5022A>G (p.Val1674=) c.5028A>G (p.Val1676=) c.4848A>G (p.Val1616=) c.5103A>G (p.Val1701=) c.5097A>G (p.Val1699=) c.4665A>G (p.Val1555=) c.4965A>G (p.Val1655=) n.5416A>G | |
9 | g.104798520T>G | CA466503149 | ABCA1 | c.5022A>C (p.Val1674=) c.5028A>C (p.Val1676=) c.4848A>C (p.Val1616=) c.5103A>C (p.Val1701=) c.5097A>C (p.Val1699=) c.4665A>C (p.Val1555=) c.4965A>C (p.Val1655=) n.5416A>C | |
9 | g.104798521A= | CA1869916049 | ABCA1 | c.5021T= (p.Val1674=) c.5027T= (p.Val1676=) c.4847T= (p.Val1616=) c.5102T= (p.Val1701=) c.5096T= (p.Val1699=) c.4664T= (p.Val1555=) c.4964T= (p.Val1655=) n.5415T= | |
9 | g.104798521A>C | CA374314127 | ABCA1 | c.5021T>G (p.Val1674Gly) c.5027T>G (p.Val1676Gly) c.4847T>G (p.Val1616Gly) c.5102T>G (p.Val1701Gly) c.5096T>G (p.Val1699Gly) c.4664T>G (p.Val1555Gly) c.4964T>G (p.Val1655Gly) n.5415T>G | |
9 | g.104798521A>G | CA374314128 | ABCA1 | c.5021T>C (p.Val1674Ala) c.5027T>C (p.Val1676Ala) c.4847T>C (p.Val1616Ala) c.5102T>C (p.Val1701Ala) c.5096T>C (p.Val1699Ala) c.4664T>C (p.Val1555Ala) c.4964T>C (p.Val1655Ala) n.5415T>C | dbSNP gnomAD v4 |
9 | g.104798521A>T | CA374314129 | ABCA1 | c.5021T>A (p.Val1674Glu) c.5027T>A (p.Val1676Glu) c.4847T>A (p.Val1616Glu) c.5102T>A (p.Val1701Glu) c.5096T>A (p.Val1699Glu) c.4664T>A (p.Val1555Glu) c.4964T>A (p.Val1655Glu) n.5415T>A | |
9 | g.104798522C>A | CA374314130 | ABCA1 | c.5020G>T (p.Val1674Leu) c.5026G>T (p.Val1676Leu) c.4846G>T (p.Val1616Leu) c.5101G>T (p.Val1701Leu) c.5095G>T (p.Val1699Leu) c.4663G>T (p.Val1555Leu) c.4963G>T (p.Val1655Leu) n.5414G>T | ClinVar |
9 | g.104798522C= | CA1869916058 | ABCA1 | c.5020G= (p.Val1674=) c.5026G= (p.Val1676=) c.4846G= (p.Val1616=) c.5101G= (p.Val1701=) c.5095G= (p.Val1699=) c.4663G= (p.Val1555=) c.4963G= (p.Val1655=) n.5414G= | |
9 | g.104798522C>G | CA374314131 | ABCA1 | c.5020G>C (p.Val1674Leu) c.5026G>C (p.Val1676Leu) c.4846G>C (p.Val1616Leu) c.5101G>C (p.Val1701Leu) c.5095G>C (p.Val1699Leu) c.4663G>C (p.Val1555Leu) c.4963G>C (p.Val1655Leu) n.5414G>C | |
9 | g.104798522C>T | CA5167957 | ABCA1 | c.5020G>A (p.Val1674Ile) c.5026G>A (p.Val1676Ile) c.4846G>A (p.Val1616Ile) c.5101G>A (p.Val1701Ile) c.5095G>A (p.Val1699Ile) c.4663G>A (p.Val1555Ile) c.4963G>A (p.Val1655Ile) n.5414G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.104798523G>A | CA5167958 | ABCA1 | c.5019C>T (p.Val1673=) c.5025C>T (p.Val1675=) c.4845C>T (p.Val1615=) c.5100C>T (p.Val1700=) c.5094C>T (p.Val1698=) c.4662C>T (p.Val1554=) c.4962C>T (p.Val1654=) n.5413C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.104798523G>C | CA466503153 | ABCA1 | c.5019C>G (p.Val1673=) c.5025C>G (p.Val1675=) c.4845C>G (p.Val1615=) c.5100C>G (p.Val1700=) c.5094C>G (p.Val1698=) c.4662C>G (p.Val1554=) c.4962C>G (p.Val1654=) n.5413C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.104798523G= | CA1869916075 | ABCA1 | c.5019C= (p.Val1673=) c.5025C= (p.Val1675=) c.4845C= (p.Val1615=) c.5100C= (p.Val1700=) c.5094C= (p.Val1698=) c.4662C= (p.Val1554=) c.4962C= (p.Val1654=) n.5413C= | |
9 | g.104798523G>T | CA466503155 | ABCA1 | c.5019C>A (p.Val1673=) c.5025C>A (p.Val1675=) c.4845C>A (p.Val1615=) c.5100C>A (p.Val1700=) c.5094C>A (p.Val1698=) c.4662C>A (p.Val1554=) c.4962C>A (p.Val1654=) n.5413C>A | |
9 | g.104798524A>C | CA374314132 | ABCA1 | c.5018T>G (p.Val1673Gly) c.5024T>G (p.Val1675Gly) c.4844T>G (p.Val1615Gly) c.5099T>G (p.Val1700Gly) c.5093T>G (p.Val1698Gly) c.4661T>G (p.Val1554Gly) c.4961T>G (p.Val1654Gly) n.5412T>G | |
9 | g.104798524A>G | CA374314133 | ABCA1 | c.5018T>C (p.Val1673Ala) c.5024T>C (p.Val1675Ala) c.4844T>C (p.Val1615Ala) c.5099T>C (p.Val1700Ala) c.5093T>C (p.Val1698Ala) c.4661T>C (p.Val1554Ala) c.4961T>C (p.Val1654Ala) n.5412T>C | |
9 | g.104798524A>T | CA374314134 | ABCA1 | c.5018T>A (p.Val1673Asp) c.5024T>A (p.Val1675Asp) c.4844T>A (p.Val1615Asp) c.5099T>A (p.Val1700Asp) c.5093T>A (p.Val1698Asp) c.4661T>A (p.Val1554Asp) c.4961T>A (p.Val1654Asp) n.5412T>A | |
9 | g.104798525C>A | CA374314135 | ABCA1 | c.5017G>T (p.Val1673Phe) c.5023G>T (p.Val1675Phe) c.4843G>T (p.Val1615Phe) c.5098G>T (p.Val1700Phe) c.5092G>T (p.Val1698Phe) c.4660G>T (p.Val1554Phe) c.4960G>T (p.Val1654Phe) n.5411G>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.104798525C>G | CA374314136 | ABCA1 | c.5017G>C (p.Val1673Leu) c.5023G>C (p.Val1675Leu) c.4843G>C (p.Val1615Leu) c.5098G>C (p.Val1700Leu) c.5092G>C (p.Val1698Leu) c.4660G>C (p.Val1554Leu) c.4960G>C (p.Val1654Leu) n.5411G>C | |
9 | g.104798525C>T | CA374314137 | ABCA1 | c.5017G>A (p.Val1673Ile) c.5023G>A (p.Val1675Ile) c.4843G>A (p.Val1615Ile) c.5098G>A (p.Val1700Ile) c.5092G>A (p.Val1698Ile) c.4660G>A (p.Val1554Ile) c.4960G>A (p.Val1654Ile) n.5411G>A | |
9 | g.104798526A>C | CA374314139 | ABCA1 | c.5016T>G (p.Phe1672Leu) c.5022T>G (p.Phe1674Leu) c.4842T>G (p.Phe1614Leu) c.5097T>G (p.Phe1699Leu) c.5091T>G (p.Phe1697Leu) c.4659T>G (p.Phe1553Leu) c.4959T>G (p.Phe1653Leu) n.5410T>G | |
9 | g.104798526A>G | CA466503160 | ABCA1 | c.5016T>C (p.Phe1672=) c.5022T>C (p.Phe1674=) c.4842T>C (p.Phe1614=) c.5097T>C (p.Phe1699=) c.5091T>C (p.Phe1697=) c.4659T>C (p.Phe1553=) c.4959T>C (p.Phe1653=) n.5410T>C | |
9 | g.104798526A>T | CA374314138 | ABCA1 | c.5016T>A (p.Phe1672Leu) c.5022T>A (p.Phe1674Leu) c.4842T>A (p.Phe1614Leu) c.5097T>A (p.Phe1699Leu) c.5091T>A (p.Phe1697Leu) c.4659T>A (p.Phe1553Leu) c.4959T>A (p.Phe1653Leu) n.5410T>A | |
9 | g.104798527A>C | CA374314140 | ABCA1 | c.5015T>G (p.Phe1672Cys) c.5021T>G (p.Phe1674Cys) c.4841T>G (p.Phe1614Cys) c.5096T>G (p.Phe1699Cys) c.5090T>G (p.Phe1697Cys) c.4658T>G (p.Phe1553Cys) c.4958T>G (p.Phe1653Cys) n.5409T>G | |
9 | g.104798527A>G | CA374314142 | ABCA1 | c.5015T>C (p.Phe1672Ser) c.5021T>C (p.Phe1674Ser) c.4841T>C (p.Phe1614Ser) c.5096T>C (p.Phe1699Ser) c.5090T>C (p.Phe1697Ser) c.4658T>C (p.Phe1553Ser) c.4958T>C (p.Phe1653Ser) n.5409T>C | |
9 | g.104798527A>T | CA374314141 | ABCA1 | c.5015T>A (p.Phe1672Tyr) c.5021T>A (p.Phe1674Tyr) c.4841T>A (p.Phe1614Tyr) c.5096T>A (p.Phe1699Tyr) c.5090T>A (p.Phe1697Tyr) c.4658T>A (p.Phe1553Tyr) c.4958T>A (p.Phe1653Tyr) n.5409T>A | |
9 | g.104798528A>C | CA374314143 | ABCA1 | c.5014T>G (p.Phe1672Val) c.5020T>G (p.Phe1674Val) c.4840T>G (p.Phe1614Val) c.5095T>G (p.Phe1699Val) c.5089T>G (p.Phe1697Val) c.4657T>G (p.Phe1553Val) c.4957T>G (p.Phe1653Val) n.5408T>G | |
9 | g.104798528A>G | CA374314144 | ABCA1 | c.5014T>C (p.Phe1672Leu) c.5020T>C (p.Phe1674Leu) c.4840T>C (p.Phe1614Leu) c.5095T>C (p.Phe1699Leu) c.5089T>C (p.Phe1697Leu) c.4657T>C (p.Phe1553Leu) c.4957T>C (p.Phe1653Leu) n.5408T>C | |
9 | g.104798528A>T | CA374314145 | ABCA1 | c.5014T>A (p.Phe1672Ile) c.5020T>A (p.Phe1674Ile) c.4840T>A (p.Phe1614Ile) c.5095T>A (p.Phe1699Ile) c.5089T>A (p.Phe1697Ile) c.4657T>A (p.Phe1553Ile) c.4957T>A (p.Phe1653Ile) n.5408T>A | |
9 | g.104798529G>A | CA466503163 | ABCA1 | c.5013C>T (p.Ser1671=) c.5019C>T (p.Ser1673=) c.4839C>T (p.Ser1613=) c.5094C>T (p.Ser1698=) c.5088C>T (p.Ser1696=) c.4656C>T (p.Ser1552=) c.4956C>T (p.Ser1652=) n.5407C>T | dbSNP |
9 | g.104798529G>C | CA374314146 | ABCA1 | c.5013C>G (p.Ser1671Arg) c.5019C>G (p.Ser1673Arg) c.4839C>G (p.Ser1613Arg) c.5094C>G (p.Ser1698Arg) c.5088C>G (p.Ser1696Arg) c.4656C>G (p.Ser1552Arg) c.4956C>G (p.Ser1652Arg) n.5407C>G | gnomAD v4 |
9 | g.104798529G= | CA1869916097 | ABCA1 | c.5013C= (p.Ser1671=) c.5019C= (p.Ser1673=) c.4839C= (p.Ser1613=) c.5094C= (p.Ser1698=) c.5088C= (p.Ser1696=) c.4656C= (p.Ser1552=) c.4956C= (p.Ser1652=) n.5407C= | |
9 | g.104798529G>T | CA374314147 | ABCA1 | c.5013C>A (p.Ser1671Arg) c.5019C>A (p.Ser1673Arg) c.4839C>A (p.Ser1613Arg) c.5094C>A (p.Ser1698Arg) c.5088C>A (p.Ser1696Arg) c.4656C>A (p.Ser1552Arg) c.4956C>A (p.Ser1652Arg) n.5407C>A | dbSNP gnomAD v4 |
9 | g.104798530C>A | CA374314148 | ABCA1 | c.5012G>T (p.Ser1671Ile) c.5018G>T (p.Ser1673Ile) c.4838G>T (p.Ser1613Ile) c.5093G>T (p.Ser1698Ile) c.5087G>T (p.Ser1696Ile) c.4655G>T (p.Ser1552Ile) c.4955G>T (p.Ser1652Ile) n.5406G>T | |
9 | g.104798530C>G | CA374314149 | ABCA1 | c.5012G>C (p.Ser1671Thr) c.5018G>C (p.Ser1673Thr) c.4838G>C (p.Ser1613Thr) c.5093G>C (p.Ser1698Thr) c.5087G>C (p.Ser1696Thr) c.4655G>C (p.Ser1552Thr) c.4955G>C (p.Ser1652Thr) n.5406G>C | |
9 | g.104798530C>T | CA374314150 | ABCA1 | c.5012G>A (p.Ser1671Asn) c.5018G>A (p.Ser1673Asn) c.4838G>A (p.Ser1613Asn) c.5093G>A (p.Ser1698Asn) c.5087G>A (p.Ser1696Asn) c.4655G>A (p.Ser1552Asn) c.4955G>A (p.Ser1652Asn) n.5406G>A | dbSNP gnomAD v4 |
9 | g.104798531T>A | CA374314151 | ABCA1 | c.5011A>T (p.Ser1671Cys) c.5017A>T (p.Ser1673Cys) c.4837A>T (p.Ser1613Cys) c.5092A>T (p.Ser1698Cys) c.5086A>T (p.Ser1696Cys) c.4654A>T (p.Ser1552Cys) c.4954A>T (p.Ser1652Cys) n.5405A>T | gnomAD v4 |
9 | g.104798531T>C | CA374314152 | ABCA1 | c.5011A>G (p.Ser1671Gly) c.5017A>G (p.Ser1673Gly) c.4837A>G (p.Ser1613Gly) c.5092A>G (p.Ser1698Gly) c.5086A>G (p.Ser1696Gly) c.4654A>G (p.Ser1552Gly) c.4954A>G (p.Ser1652Gly) n.5405A>G | |
9 | g.104798531T>G | CA374314153 | ABCA1 | c.5011A>C (p.Ser1671Arg) c.5017A>C (p.Ser1673Arg) c.4837A>C (p.Ser1613Arg) c.5092A>C (p.Ser1698Arg) c.5086A>C (p.Ser1696Arg) c.4654A>C (p.Ser1552Arg) c.4954A>C (p.Ser1652Arg) n.5405A>C | |
9 | g.104798532G>A | CA466503167 | ABCA1 | c.5010C>T (p.Ala1670=) c.5016C>T (p.Ala1672=) c.4836C>T (p.Ala1612=) c.5091C>T (p.Ala1697=) c.5085C>T (p.Ala1695=) c.4653C>T (p.Ala1551=) c.4953C>T (p.Ala1651=) n.5404C>T | ClinVar |
9 | g.104798532G>C | CA466503168 | ABCA1 | c.5010C>G (p.Ala1670=) c.5016C>G (p.Ala1672=) c.4836C>G (p.Ala1612=) c.5091C>G (p.Ala1697=) c.5085C>G (p.Ala1695=) c.4653C>G (p.Ala1551=) c.4953C>G (p.Ala1651=) n.5404C>G | |
9 | g.104798532G>T | CA466503169 | ABCA1 | c.5010C>A (p.Ala1670=) c.5016C>A (p.Ala1672=) c.4836C>A (p.Ala1612=) c.5091C>A (p.Ala1697=) c.5085C>A (p.Ala1695=) c.4653C>A (p.Ala1551=) c.4953C>A (p.Ala1651=) n.5404C>A | |
9 | g.104798533G>A | CA374314156 | ABCA1 | c.5009C>T (p.Ala1670Val) c.5015C>T (p.Ala1672Val) c.4835C>T (p.Ala1612Val) c.5090C>T (p.Ala1697Val) c.5084C>T (p.Ala1695Val) c.4652C>T (p.Ala1551Val) c.4952C>T (p.Ala1651Val) n.5403C>T | |
9 | g.104798533G>C | CA374314155 | ABCA1 | c.5009C>G (p.Ala1670Gly) c.5015C>G (p.Ala1672Gly) c.4835C>G (p.Ala1612Gly) c.5090C>G (p.Ala1697Gly) c.5084C>G (p.Ala1695Gly) c.4652C>G (p.Ala1551Gly) c.4952C>G (p.Ala1651Gly) n.5403C>G | |
9 | g.104798533G>T | CA374314154 | ABCA1 | c.5009C>A (p.Ala1670Asp) c.5015C>A (p.Ala1672Asp) c.4835C>A (p.Ala1612Asp) c.5090C>A (p.Ala1697Asp) c.5084C>A (p.Ala1695Asp) c.4652C>A (p.Ala1551Asp) c.4952C>A (p.Ala1651Asp) n.5403C>A | |
9 | g.104798534C>A | CA374314157 | ABCA1 | c.5008G>T (p.Ala1670Ser) c.5014G>T (p.Ala1672Ser) c.4834G>T (p.Ala1612Ser) c.5089G>T (p.Ala1697Ser) c.5083G>T (p.Ala1695Ser) c.4651G>T (p.Ala1551Ser) c.4951G>T (p.Ala1651Ser) n.5402G>T | |
9 | g.104798534C= | CA1869916103 | ABCA1 | c.5008G= (p.Ala1670=) c.5014G= (p.Ala1672=) c.4834G= (p.Ala1612=) c.5089G= (p.Ala1697=) c.5083G= (p.Ala1695=) c.4651G= (p.Ala1551=) c.4951G= (p.Ala1651=) n.5402G= | |
9 | g.104798534C>G | CA374314158 | ABCA1 | c.5008G>C (p.Ala1670Pro) c.5014G>C (p.Ala1672Pro) c.4834G>C (p.Ala1612Pro) c.5089G>C (p.Ala1697Pro) c.5083G>C (p.Ala1695Pro) c.4651G>C (p.Ala1551Pro) c.4951G>C (p.Ala1651Pro) n.5402G>C | |
9 | g.104798534C>T | CA374314159 | ABCA1 | c.5008G>A (p.Ala1670Thr) c.5014G>A (p.Ala1672Thr) c.4834G>A (p.Ala1612Thr) c.5089G>A (p.Ala1697Thr) c.5083G>A (p.Ala1695Thr) c.4651G>A (p.Ala1551Thr) c.4951G>A (p.Ala1651Thr) n.5402G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.104798535T>A | CA466503173 | ABCA1 | c.5007A>T (p.Pro1669=) c.5013A>T (p.Pro1671=) c.4833A>T (p.Pro1611=) c.5088A>T (p.Pro1696=) c.5082A>T (p.Pro1694=) c.4650A>T (p.Pro1550=) c.4950A>T (p.Pro1650=) n.5401A>T | |
9 | g.104798535T>C | CA466503174 | ABCA1 | c.5007A>G (p.Pro1669=) c.5013A>G (p.Pro1671=) c.4833A>G (p.Pro1611=) c.5088A>G (p.Pro1696=) c.5082A>G (p.Pro1694=) c.4650A>G (p.Pro1550=) c.4950A>G (p.Pro1650=) n.5401A>G | |
9 | g.104798535T>G | CA466503175 | ABCA1 | c.5007A>C (p.Pro1669=) c.5013A>C (p.Pro1671=) c.4833A>C (p.Pro1611=) c.5088A>C (p.Pro1696=) c.5082A>C (p.Pro1694=) c.4650A>C (p.Pro1550=) c.4950A>C (p.Pro1650=) n.5401A>C | |
9 | g.104798536G>A | CA374314160 | ABCA1 | c.5006C>T (p.Pro1669Leu) c.5012C>T (p.Pro1671Leu) c.4832C>T (p.Pro1611Leu) c.5087C>T (p.Pro1696Leu) c.5081C>T (p.Pro1694Leu) c.4649C>T (p.Pro1550Leu) c.4949C>T (p.Pro1650Leu) n.5400C>T | |
9 | g.104798536G>C | CA374314161 | ABCA1 | c.5006C>G (p.Pro1669Arg) c.5012C>G (p.Pro1671Arg) c.4832C>G (p.Pro1611Arg) c.5087C>G (p.Pro1696Arg) c.5081C>G (p.Pro1694Arg) c.4649C>G (p.Pro1550Arg) c.4949C>G (p.Pro1650Arg) n.5400C>G | |
9 | g.104798536G>T | CA374314162 | ABCA1 | c.5006C>A (p.Pro1669Gln) c.5012C>A (p.Pro1671Gln) c.4832C>A (p.Pro1611Gln) c.5087C>A (p.Pro1696Gln) c.5081C>A (p.Pro1694Gln) c.4649C>A (p.Pro1550Gln) c.4949C>A (p.Pro1650Gln) n.5400C>A | |
9 | g.104798537G>A | CA374314163 | ABCA1 | c.5005C>T (p.Pro1669Ser) c.5011C>T (p.Pro1671Ser) c.4831C>T (p.Pro1611Ser) c.5086C>T (p.Pro1696Ser) c.5080C>T (p.Pro1694Ser) c.4648C>T (p.Pro1550Ser) c.4948C>T (p.Pro1650Ser) n.5399C>T | |
9 | g.104798537G>C | CA374314164 | ABCA1 | c.5005C>G (p.Pro1669Ala) c.5011C>G (p.Pro1671Ala) c.4831C>G (p.Pro1611Ala) c.5086C>G (p.Pro1696Ala) c.5080C>G (p.Pro1694Ala) c.4648C>G (p.Pro1550Ala) c.4948C>G (p.Pro1650Ala) n.5399C>G | |
9 | g.104798537G>T | CA374314165 | ABCA1 | c.5005C>A (p.Pro1669Thr) c.5011C>A (p.Pro1671Thr) c.4831C>A (p.Pro1611Thr) c.5086C>A (p.Pro1696Thr) c.5080C>A (p.Pro1694Thr) c.4648C>A (p.Pro1550Thr) c.4948C>A (p.Pro1650Thr) n.5399C>A | |
9 | g.104798538G>A | CA5167959 | ABCA1 | c.5004C>T (p.Val1668=) c.5010C>T (p.Val1670=) c.4830C>T (p.Val1610=) c.5085C>T (p.Val1695=) c.5079C>T (p.Val1693=) c.4647C>T (p.Val1549=) c.4947C>T (p.Val1649=) n.5398C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.104798538G>C | CA466503179 | ABCA1 | c.5004C>G (p.Val1668=) c.5010C>G (p.Val1670=) c.4830C>G (p.Val1610=) c.5085C>G (p.Val1695=) c.5079C>G (p.Val1693=) c.4647C>G (p.Val1549=) c.4947C>G (p.Val1649=) n.5398C>G | |
9 | g.104798538G= | CA1869916108 | ABCA1 | c.5004C= (p.Val1668=) c.5010C= (p.Val1670=) c.4830C= (p.Val1610=) c.5085C= (p.Val1695=) c.5079C= (p.Val1693=) c.4647C= (p.Val1549=) c.4947C= (p.Val1649=) n.5398C= | |
9 | g.104798538G>T | CA466503181 | ABCA1 | c.5004C>A (p.Val1668=) c.5010C>A (p.Val1670=) c.4830C>A (p.Val1610=) c.5085C>A (p.Val1695=) c.5079C>A (p.Val1693=) c.4647C>A (p.Val1549=) c.4947C>A (p.Val1649=) n.5398C>A | |
9 | g.104798539A>C | CA374314166 | ABCA1 | c.5003T>G (p.Val1668Gly) c.5009T>G (p.Val1670Gly) c.4829T>G (p.Val1610Gly) c.5084T>G (p.Val1695Gly) c.5078T>G (p.Val1693Gly) c.4646T>G (p.Val1549Gly) c.4946T>G (p.Val1649Gly) n.5397T>G | |
9 | g.104798539A>G | CA374314167 | ABCA1 | c.5003T>C (p.Val1668Ala) c.5009T>C (p.Val1670Ala) c.4829T>C (p.Val1610Ala) c.5084T>C (p.Val1695Ala) c.5078T>C (p.Val1693Ala) c.4646T>C (p.Val1549Ala) c.4946T>C (p.Val1649Ala) n.5397T>C | |
9 | g.104798539A>T | CA374314168 | ABCA1 | c.5003T>A (p.Val1668Asp) c.5009T>A (p.Val1670Asp) c.4829T>A (p.Val1610Asp) c.5084T>A (p.Val1695Asp) c.5078T>A (p.Val1693Asp) c.4646T>A (p.Val1549Asp) c.4946T>A (p.Val1649Asp) n.5397T>A | |
9 | g.104798540C>A | CA374314170 | ABCA1 | c.5002G>T (p.Val1668Phe) c.5008G>T (p.Val1670Phe) c.4828G>T (p.Val1610Phe) c.5083G>T (p.Val1695Phe) c.5077G>T (p.Val1693Phe) c.4645G>T (p.Val1549Phe) c.4945G>T (p.Val1649Phe) n.5396G>T | gnomAD v4 |
9 | g.104798540C= | CA1869916113 | ABCA1 | c.5002G= (p.Val1668=) c.5008G= (p.Val1670=) c.4828G= (p.Val1610=) c.5083G= (p.Val1695=) c.5077G= (p.Val1693=) c.4645G= (p.Val1549=) c.4945G= (p.Val1649=) n.5396G= | |
9 | g.104798540C>G | CA374314169 | ABCA1 | c.5002G>C (p.Val1668Leu) c.5008G>C (p.Val1670Leu) c.4828G>C (p.Val1610Leu) c.5083G>C (p.Val1695Leu) c.5077G>C (p.Val1693Leu) c.4645G>C (p.Val1549Leu) c.4945G>C (p.Val1649Leu) n.5396G>C | |
9 | g.104798540C>T | CA5167960 | ABCA1 | c.5002G>A (p.Val1668Ile) c.5008G>A (p.Val1670Ile) c.4828G>A (p.Val1610Ile) c.5083G>A (p.Val1695Ile) c.5077G>A (p.Val1693Ile) c.4645G>A (p.Val1549Ile) c.4945G>A (p.Val1649Ile) n.5396G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.104798541G>A | CA5167961 | ABCA1 | c.5001C>T (p.Phe1667=) c.5007C>T (p.Phe1669=) c.4827C>T (p.Phe1609=) c.5082C>T (p.Phe1694=) c.5076C>T (p.Phe1692=) c.4644C>T (p.Phe1548=) c.4944C>T (p.Phe1648=) n.5395C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.104798541G>C | CA374314172 | ABCA1 | c.5001C>G (p.Phe1667Leu) c.5007C>G (p.Phe1669Leu) c.4827C>G (p.Phe1609Leu) c.5082C>G (p.Phe1694Leu) c.5076C>G (p.Phe1692Leu) c.4644C>G (p.Phe1548Leu) c.4944C>G (p.Phe1648Leu) n.5395C>G | |
9 | g.104798541G= | CA1869916121 | ABCA1 | c.5001C= (p.Phe1667=) c.5007C= (p.Phe1669=) c.4827C= (p.Phe1609=) c.5082C= (p.Phe1694=) c.5076C= (p.Phe1692=) c.4644C= (p.Phe1548=) c.4944C= (p.Phe1648=) n.5395C= | |
9 | g.104798541G>T | CA374314171 | ABCA1 | c.5001C>A (p.Phe1667Leu) c.5007C>A (p.Phe1669Leu) c.4827C>A (p.Phe1609Leu) c.5082C>A (p.Phe1694Leu) c.5076C>A (p.Phe1692Leu) c.4644C>A (p.Phe1548Leu) c.4944C>A (p.Phe1648Leu) n.5395C>A | |
9 | g.104798542A>C | CA374314173 | ABCA1 | c.5000T>G (p.Phe1667Cys) c.5006T>G (p.Phe1669Cys) c.4826T>G (p.Phe1609Cys) c.5081T>G (p.Phe1694Cys) c.5075T>G (p.Phe1692Cys) c.4643T>G (p.Phe1548Cys) c.4943T>G (p.Phe1648Cys) n.5394T>G | |
9 | g.104798542A>G | CA374314174 | ABCA1 | c.5000T>C (p.Phe1667Ser) c.5006T>C (p.Phe1669Ser) c.4826T>C (p.Phe1609Ser) c.5081T>C (p.Phe1694Ser) c.5075T>C (p.Phe1692Ser) c.4643T>C (p.Phe1548Ser) c.4943T>C (p.Phe1648Ser) n.5394T>C | |
9 | g.104798542A>T | CA374314175 | ABCA1 | c.5000T>A (p.Phe1667Tyr) c.5006T>A (p.Phe1669Tyr) c.4826T>A (p.Phe1609Tyr) c.5081T>A (p.Phe1694Tyr) c.5075T>A (p.Phe1692Tyr) c.4643T>A (p.Phe1548Tyr) c.4943T>A (p.Phe1648Tyr) n.5394T>A | |
9 | g.104798543A>C | CA374314176 | ABCA1 | c.4999T>G (p.Phe1667Val) c.5005T>G (p.Phe1669Val) c.4825T>G (p.Phe1609Val) c.5080T>G (p.Phe1694Val) c.5074T>G (p.Phe1692Val) c.4642T>G (p.Phe1548Val) c.4942T>G (p.Phe1648Val) n.5393T>G | |
9 | g.104798543A>G | CA374314177 | ABCA1 | c.4999T>C (p.Phe1667Leu) c.5005T>C (p.Phe1669Leu) c.4825T>C (p.Phe1609Leu) c.5080T>C (p.Phe1694Leu) c.5074T>C (p.Phe1692Leu) c.4642T>C (p.Phe1548Leu) c.4942T>C (p.Phe1648Leu) n.5393T>C | gnomAD v4 |
9 | g.104798543A>T | CA374314178 | ABCA1 | c.4999T>A (p.Phe1667Ile) c.5005T>A (p.Phe1669Ile) c.4825T>A (p.Phe1609Ile) c.5080T>A (p.Phe1694Ile) c.5074T>A (p.Phe1692Ile) c.4642T>A (p.Phe1548Ile) c.4942T>A (p.Phe1648Ile) n.5393T>A | |
9 | g.104798544G>A | CA466503186 | ABCA1 | c.4998C>T (p.Ser1666=) c.5004C>T (p.Ser1668=) c.4824C>T (p.Ser1608=) c.5079C>T (p.Ser1693=) c.5073C>T (p.Ser1691=) c.4641C>T (p.Ser1547=) c.4941C>T (p.Ser1647=) n.5392C>T | gnomAD v4 |
9 | g.104798544G>C | CA466503185 | ABCA1 | c.4998C>G (p.Ser1666=) c.5004C>G (p.Ser1668=) c.4824C>G (p.Ser1608=) c.5079C>G (p.Ser1693=) c.5073C>G (p.Ser1691=) c.4641C>G (p.Ser1547=) c.4941C>G (p.Ser1647=) n.5392C>G | |
9 | g.104798544G>T | CA466503183 | ABCA1 | c.4998C>A (p.Ser1666=) c.5004C>A (p.Ser1668=) c.4824C>A (p.Ser1608=) c.5079C>A (p.Ser1693=) c.5073C>A (p.Ser1691=) c.4641C>A (p.Ser1547=) c.4941C>A (p.Ser1647=) n.5392C>A | |
9 | g.104798545G>A | CA374314181 | ABCA1 | c.4997C>T (p.Ser1666Phe) c.5003C>T (p.Ser1668Phe) c.4823C>T (p.Ser1608Phe) c.5078C>T (p.Ser1693Phe) c.5072C>T (p.Ser1691Phe) c.4640C>T (p.Ser1547Phe) c.4940C>T (p.Ser1647Phe) n.5391C>T | |
9 | g.104798545G>C | CA374314180 | ABCA1 | c.4997C>G (p.Ser1666Cys) c.5003C>G (p.Ser1668Cys) c.4823C>G (p.Ser1608Cys) c.5078C>G (p.Ser1693Cys) c.5072C>G (p.Ser1691Cys) c.4640C>G (p.Ser1547Cys) c.4940C>G (p.Ser1647Cys) n.5391C>G | |
9 | g.104798545G>T | CA374314179 | ABCA1 | c.4997C>A (p.Ser1666Tyr) c.5003C>A (p.Ser1668Tyr) c.4823C>A (p.Ser1608Tyr) c.5078C>A (p.Ser1693Tyr) c.5072C>A (p.Ser1691Tyr) c.4640C>A (p.Ser1547Tyr) c.4940C>A (p.Ser1647Tyr) n.5391C>A | |
9 | g.104798546A>C | CA374314182 | ABCA1 | c.4996T>G (p.Ser1666Ala) c.5002T>G (p.Ser1668Ala) c.4822T>G (p.Ser1608Ala) c.5077T>G (p.Ser1693Ala) c.5071T>G (p.Ser1691Ala) c.4639T>G (p.Ser1547Ala) c.4939T>G (p.Ser1647Ala) n.5390T>G | |
9 | g.104798546A>G | CA374314183 | ABCA1 | c.4996T>C (p.Ser1666Pro) c.5002T>C (p.Ser1668Pro) c.4822T>C (p.Ser1608Pro) c.5077T>C (p.Ser1693Pro) c.5071T>C (p.Ser1691Pro) c.4639T>C (p.Ser1547Pro) c.4939T>C (p.Ser1647Pro) n.5390T>C | |
9 | g.104798546A>T | CA374314184 | ABCA1 | c.4996T>A (p.Ser1666Thr) c.5002T>A (p.Ser1668Thr) c.4822T>A (p.Ser1608Thr) c.5077T>A (p.Ser1693Thr) c.5071T>A (p.Ser1691Thr) c.4639T>A (p.Ser1547Thr) c.4939T>A (p.Ser1647Thr) n.5390T>A | |
9 | g.104798547C>A | CA374314185 | ABCA1 | c.4995G>T (p.Met1665Ile) c.5001G>T (p.Met1667Ile) c.4821G>T (p.Met1607Ile) c.5076G>T (p.Met1692Ile) c.5070G>T (p.Met1690Ile) c.4638G>T (p.Met1546Ile) c.4938G>T (p.Met1646Ile) n.5389G>T | |
9 | g.104798547C= | CA1869916127 | ABCA1 | c.4995G= (p.Met1665=) c.5001G= (p.Met1667=) c.4821G= (p.Met1607=) c.5076G= (p.Met1692=) c.5070G= (p.Met1690=) c.4638G= (p.Met1546=) c.4938G= (p.Met1646=) n.5389G= | |
9 | g.104798547C>G | CA374314186 | ABCA1 | c.4995G>C (p.Met1665Ile) c.5001G>C (p.Met1667Ile) c.4821G>C (p.Met1607Ile) c.5076G>C (p.Met1692Ile) c.5070G>C (p.Met1690Ile) c.4638G>C (p.Met1546Ile) c.4938G>C (p.Met1646Ile) n.5389G>C | |
9 | g.104798547C>T | CA374314187 | ABCA1 | c.4995G>A (p.Met1665Ile) c.5001G>A (p.Met1667Ile) c.4821G>A (p.Met1607Ile) c.5076G>A (p.Met1692Ile) c.5070G>A (p.Met1690Ile) c.4638G>A (p.Met1546Ile) c.4938G>A (p.Met1646Ile) n.5389G>A | |
9 | g.104798548A>C | CA374314188 | ABCA1 | c.4994T>G (p.Met1665Arg) c.5000T>G (p.Met1667Arg) c.4820T>G (p.Met1607Arg) c.5075T>G (p.Met1692Arg) c.5069T>G (p.Met1690Arg) c.4637T>G (p.Met1546Arg) c.4937T>G (p.Met1646Arg) n.5388T>G | |
9 | g.104798548A>G | CA374314190 | ABCA1 | c.4994T>C (p.Met1665Thr) c.5000T>C (p.Met1667Thr) c.4820T>C (p.Met1607Thr) c.5075T>C (p.Met1692Thr) c.5069T>C (p.Met1690Thr) c.4637T>C (p.Met1546Thr) c.4937T>C (p.Met1646Thr) n.5388T>C | gnomAD v4 |
9 | g.104798548A>T | CA374314189 | ABCA1 | c.4994T>A (p.Met1665Lys) c.5000T>A (p.Met1667Lys) c.4820T>A (p.Met1607Lys) c.5075T>A (p.Met1692Lys) c.5069T>A (p.Met1690Lys) c.4637T>A (p.Met1546Lys) c.4937T>A (p.Met1646Lys) n.5388T>A | |
9 | g.104798548dup | CA5167962 | ABCA1 | c.4994dup (p.Met1665IlefsTer?) c.5000dup (p.Met1667IlefsTer?) c.4820dup (p.Met1607IlefsTer?) c.5075dup (p.Met1692IlefsTer?) c.5069dup (p.Met1690IlefsTer?) c.4637dup (p.Met1546IlefsTer?) c.4937dup (p.Met1646IlefsTer?) n.5388dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.104798549T>A | CA374314191 | ABCA1 | c.4993A>T (p.Met1665Leu) c.4999A>T (p.Met1667Leu) c.4819A>T (p.Met1607Leu) c.5074A>T (p.Met1692Leu) c.5068A>T (p.Met1690Leu) c.4636A>T (p.Met1546Leu) c.4936A>T (p.Met1646Leu) n.5387A>T | gnomAD v4 |
9 | g.104798549T>C | CA5167963 | ABCA1 | c.4993A>G (p.Met1665Val) c.4999A>G (p.Met1667Val) c.4819A>G (p.Met1607Val) c.5074A>G (p.Met1692Val) c.5068A>G (p.Met1690Val) c.4636A>G (p.Met1546Val) c.4936A>G (p.Met1646Val) n.5387A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.104798549T>G | CA374314192 | ABCA1 | c.4993A>C (p.Met1665Leu) c.4999A>C (p.Met1667Leu) c.4819A>C (p.Met1607Leu) c.5074A>C (p.Met1692Leu) c.5068A>C (p.Met1690Leu) c.4636A>C (p.Met1546Leu) c.4936A>C (p.Met1646Leu) n.5387A>C | |
9 | g.104798549T= | CA1869916149 | ABCA1 | c.4993A= (p.Met1665=) c.4999A= (p.Met1667=) c.4819A= (p.Met1607=) c.5074A= (p.Met1692=) c.5068A= (p.Met1690=) c.4636A= (p.Met1546=) c.4936A= (p.Met1646=) n.5387A= | |
9 | g.104798550T>A | CA466503187 | ABCA1 | c.4992A>T (p.Ala1664=) c.4998A>T (p.Ala1666=) c.4818A>T (p.Ala1606=) c.5073A>T (p.Ala1691=) c.5067A>T (p.Ala1689=) c.4635A>T (p.Ala1545=) c.4935A>T (p.Ala1645=) n.5386A>T | |
9 | g.104798550T>C | CA197361891 | ABCA1 | c.4992A>G (p.Ala1664=) c.4998A>G (p.Ala1666=) c.4818A>G (p.Ala1606=) c.5073A>G (p.Ala1691=) c.5067A>G (p.Ala1689=) c.4635A>G (p.Ala1545=) c.4935A>G (p.Ala1645=) n.5386A>G | dbSNP gnomAD v4 |
9 | g.104798550T>G | CA466503188 | ABCA1 | c.4992A>C (p.Ala1664=) c.4998A>C (p.Ala1666=) c.4818A>C (p.Ala1606=) c.5073A>C (p.Ala1691=) c.5067A>C (p.Ala1689=) c.4635A>C (p.Ala1545=) c.4935A>C (p.Ala1645=) n.5386A>C | |
9 | g.104798550T= | CA1869916168 | ABCA1 | c.4992A= (p.Ala1664=) c.4998A= (p.Ala1666=) c.4818A= (p.Ala1606=) c.5073A= (p.Ala1691=) c.5067A= (p.Ala1689=) c.4635A= (p.Ala1545=) c.4935A= (p.Ala1645=) n.5386A= | |
9 | g.104798551G>A | CA5167964 | ABCA1 | c.4991C>T (p.Ala1664Val) c.4997C>T (p.Ala1666Val) c.4817C>T (p.Ala1606Val) c.5072C>T (p.Ala1691Val) c.5066C>T (p.Ala1689Val) c.4634C>T (p.Ala1545Val) c.4934C>T (p.Ala1645Val) n.5385C>T | ClinVar dbSNP ExAC gnomAD v2 |
9 | g.104798551G>C | CA374314193 | ABCA1 | c.4991C>G (p.Ala1664Gly) c.4997C>G (p.Ala1666Gly) c.4817C>G (p.Ala1606Gly) c.5072C>G (p.Ala1691Gly) c.5066C>G (p.Ala1689Gly) c.4634C>G (p.Ala1545Gly) c.4934C>G (p.Ala1645Gly) n.5385C>G | |
9 | g.104798551G= | CA1869916172 | ABCA1 | c.4991C= (p.Ala1664=) c.4997C= (p.Ala1666=) c.4817C= (p.Ala1606=) c.5072C= (p.Ala1691=) c.5066C= (p.Ala1689=) c.4634C= (p.Ala1545=) c.4934C= (p.Ala1645=) n.5385C= | |
9 | g.104798551G>T | CA374314194 | ABCA1 | c.4991C>A (p.Ala1664Glu) c.4997C>A (p.Ala1666Glu) c.4817C>A (p.Ala1606Glu) c.5072C>A (p.Ala1691Glu) c.5066C>A (p.Ala1689Glu) c.4634C>A (p.Ala1545Glu) c.4934C>A (p.Ala1645Glu) n.5385C>A | |
9 | g.104798552C>A | CA374314195 | ABCA1 | c.4990G>T (p.Ala1664Ser) c.4996G>T (p.Ala1666Ser) c.4816G>T (p.Ala1606Ser) c.5071G>T (p.Ala1691Ser) c.5065G>T (p.Ala1689Ser) c.4633G>T (p.Ala1545Ser) c.4933G>T (p.Ala1645Ser) n.5384G>T | |
9 | g.104798552C>G | CA374314196 | ABCA1 | c.4990G>C (p.Ala1664Pro) c.4996G>C (p.Ala1666Pro) c.4816G>C (p.Ala1606Pro) c.5071G>C (p.Ala1691Pro) c.5065G>C (p.Ala1689Pro) c.4633G>C (p.Ala1545Pro) c.4933G>C (p.Ala1645Pro) n.5384G>C | |
9 | g.104798552C>T | CA374314197 | ABCA1 | c.4990G>A (p.Ala1664Thr) c.4996G>A (p.Ala1666Thr) c.4816G>A (p.Ala1606Thr) c.5071G>A (p.Ala1691Thr) c.5065G>A (p.Ala1689Thr) c.4633G>A (p.Ala1545Thr) c.4933G>A (p.Ala1645Thr) n.5384G>A | |
9 | g.104798553A>C | CA374314198 | ABCA1 | c.4989T>G (p.Phe1663Leu) c.4995T>G (p.Phe1665Leu) c.4815T>G (p.Phe1605Leu) c.5070T>G (p.Phe1690Leu) c.5064T>G (p.Phe1688Leu) c.4632T>G (p.Phe1544Leu) c.4932T>G (p.Phe1644Leu) n.5383T>G | |
9 | g.104798553A>G | CA466503190 | ABCA1 | c.4989T>C (p.Phe1663=) c.4995T>C (p.Phe1665=) c.4815T>C (p.Phe1605=) c.5070T>C (p.Phe1690=) c.5064T>C (p.Phe1688=) c.4632T>C (p.Phe1544=) c.4932T>C (p.Phe1644=) n.5383T>C | |
9 | g.104798553A>T | CA374314199 | ABCA1 | c.4989T>A (p.Phe1663Leu) c.4995T>A (p.Phe1665Leu) c.4815T>A (p.Phe1605Leu) c.5070T>A (p.Phe1690Leu) c.5064T>A (p.Phe1688Leu) c.4632T>A (p.Phe1544Leu) c.4932T>A (p.Phe1644Leu) n.5383T>A | |
9 | g.104798554A>C | CA374314200 | ABCA1 | c.4988T>G (p.Phe1663Cys) c.4994T>G (p.Phe1665Cys) c.4814T>G (p.Phe1605Cys) c.5069T>G (p.Phe1690Cys) c.5063T>G (p.Phe1688Cys) c.4631T>G (p.Phe1544Cys) c.4931T>G (p.Phe1644Cys) n.5382T>G | |
9 | g.104798554A>G | CA374314202 | ABCA1 | c.4988T>C (p.Phe1663Ser) c.4994T>C (p.Phe1665Ser) c.4814T>C (p.Phe1605Ser) c.5069T>C (p.Phe1690Ser) c.5063T>C (p.Phe1688Ser) c.4631T>C (p.Phe1544Ser) c.4931T>C (p.Phe1644Ser) n.5382T>C | |
9 | g.104798554A>T | CA374314201 | ABCA1 | c.4988T>A (p.Phe1663Tyr) c.4994T>A (p.Phe1665Tyr) c.4814T>A (p.Phe1605Tyr) c.5069T>A (p.Phe1690Tyr) c.5063T>A (p.Phe1688Tyr) c.4631T>A (p.Phe1544Tyr) c.4931T>A (p.Phe1644Tyr) n.5382T>A | |
9 | g.104798555A>C | CA374314203 | ABCA1 | c.4987T>G (p.Phe1663Val) c.4993T>G (p.Phe1665Val) c.4813T>G (p.Phe1605Val) c.5068T>G (p.Phe1690Val) c.5062T>G (p.Phe1688Val) c.4630T>G (p.Phe1544Val) c.4930T>G (p.Phe1644Val) n.5381T>G | gnomAD v4 |
9 | g.104798555A>G | CA374314204 | ABCA1 | c.4987T>C (p.Phe1663Leu) c.4993T>C (p.Phe1665Leu) c.4813T>C (p.Phe1605Leu) c.5068T>C (p.Phe1690Leu) c.5062T>C (p.Phe1688Leu) c.4630T>C (p.Phe1544Leu) c.4930T>C (p.Phe1644Leu) n.5381T>C | |
9 | g.104798555A>T | CA374314205 | ABCA1 | c.4987T>A (p.Phe1663Ile) c.4993T>A (p.Phe1665Ile) c.4813T>A (p.Phe1605Ile) c.5068T>A (p.Phe1690Ile) c.5062T>A (p.Phe1688Ile) c.4630T>A (p.Phe1544Ile) c.4930T>A (p.Phe1644Ile) n.5381T>A | |
9 | g.104798556G>A | CA466503194 | ABCA1 | c.4986C>T (p.Ile1662=) c.4992C>T (p.Ile1664=) c.4812C>T (p.Ile1604=) c.5067C>T (p.Ile1689=) c.5061C>T (p.Ile1687=) c.4629C>T (p.Ile1543=) c.4929C>T (p.Ile1643=) n.5380C>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.104798556G>C | CA374314206 | ABCA1 | c.4986C>G (p.Ile1662Met) c.4992C>G (p.Ile1664Met) c.4812C>G (p.Ile1604Met) c.5067C>G (p.Ile1689Met) c.5061C>G (p.Ile1687Met) c.4629C>G (p.Ile1543Met) c.4929C>G (p.Ile1643Met) n.5380C>G | |
9 | g.104798556G= | CA1869916218 | ABCA1 | c.4986C= (p.Ile1662=) c.4992C= (p.Ile1664=) c.4812C= (p.Ile1604=) c.5067C= (p.Ile1689=) c.5061C= (p.Ile1687=) c.4629C= (p.Ile1543=) c.4929C= (p.Ile1643=) n.5380C= | |
9 | g.104798556G>T | CA466503196 | ABCA1 | c.4986C>A (p.Ile1662=) c.4992C>A (p.Ile1664=) c.4812C>A (p.Ile1604=) c.5067C>A (p.Ile1689=) c.5061C>A (p.Ile1687=) c.4629C>A (p.Ile1543=) c.4929C>A (p.Ile1643=) n.5380C>A | dbSNP gnomAD v3 gnomAD v4 COSMIC |
9 | g.104798557A= | CA1869916228 | ABCA1 | c.4985T= (p.Ile1662=) c.4991T= (p.Ile1664=) c.4811T= (p.Ile1604=) c.5066T= (p.Ile1689=) c.5060T= (p.Ile1687=) c.4628T= (p.Ile1543=) c.4928T= (p.Ile1643=) n.5379T= | |
9 | g.104798557A>C | CA374314207 | ABCA1 | c.4985T>G (p.Ile1662Ser) c.4991T>G (p.Ile1664Ser) c.4811T>G (p.Ile1604Ser) c.5066T>G (p.Ile1689Ser) c.5060T>G (p.Ile1687Ser) c.4628T>G (p.Ile1543Ser) c.4928T>G (p.Ile1643Ser) n.5379T>G | |
9 | g.104798557A>G | CA5167965 | ABCA1 | c.4985T>C (p.Ile1662Thr) c.4991T>C (p.Ile1664Thr) c.4811T>C (p.Ile1604Thr) c.5066T>C (p.Ile1689Thr) c.5060T>C (p.Ile1687Thr) c.4628T>C (p.Ile1543Thr) c.4928T>C (p.Ile1643Thr) n.5379T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.104798557A>T | CA374314208 | ABCA1 | c.4985T>A (p.Ile1662Asn) c.4991T>A (p.Ile1664Asn) c.4811T>A (p.Ile1604Asn) c.5066T>A (p.Ile1689Asn) c.5060T>A (p.Ile1687Asn) c.4628T>A (p.Ile1543Asn) c.4928T>A (p.Ile1643Asn) n.5379T>A | dbSNP |
9 | g.104798558T>A | CA374314209 | ABCA1 | c.4984A>T (p.Ile1662Phe) c.4990A>T (p.Ile1664Phe) c.4810A>T (p.Ile1604Phe) c.5065A>T (p.Ile1689Phe) c.5059A>T (p.Ile1687Phe) c.4627A>T (p.Ile1543Phe) c.4927A>T (p.Ile1643Phe) n.5378A>T | |
9 | g.104798558T>C | CA374314210 | ABCA1 | c.4984A>G (p.Ile1662Val) c.4990A>G (p.Ile1664Val) c.4810A>G (p.Ile1604Val) c.5065A>G (p.Ile1689Val) c.5059A>G (p.Ile1687Val) c.4627A>G (p.Ile1543Val) c.4927A>G (p.Ile1643Val) n.5378A>G | dbSNP |
9 | g.104798558T>G | CA374314211 | ABCA1 | c.4984A>C (p.Ile1662Leu) c.4990A>C (p.Ile1664Leu) c.4810A>C (p.Ile1604Leu) c.5065A>C (p.Ile1689Leu) c.5059A>C (p.Ile1687Leu) c.4627A>C (p.Ile1543Leu) c.4927A>C (p.Ile1643Leu) n.5378A>C | |
9 | g.104798558T= | CA1869916232 | ABCA1 | c.4984A= (p.Ile1662=) c.4990A= (p.Ile1664=) c.4810A= (p.Ile1604=) c.5065A= (p.Ile1689=) c.5059A= (p.Ile1687=) c.4627A= (p.Ile1543=) c.4927A= (p.Ile1643=) n.5378A= | |
9 | g.104798559G>A | CA466503199 | ABCA1 | c.4983C>T (p.Val1661=) c.4989C>T (p.Val1663=) c.4809C>T (p.Val1603=) c.5064C>T (p.Val1688=) c.5058C>T (p.Val1686=) c.4626C>T (p.Val1542=) c.4926C>T (p.Val1642=) n.5377C>T | |
9 | g.104798559G>C | CA466503200 | ABCA1 | c.4983C>G (p.Val1661=) c.4989C>G (p.Val1663=) c.4809C>G (p.Val1603=) c.5064C>G (p.Val1688=) c.5058C>G (p.Val1686=) c.4626C>G (p.Val1542=) c.4926C>G (p.Val1642=) n.5377C>G | |
9 | g.104798559G>T | CA466503201 | ABCA1 | c.4983C>A (p.Val1661=) c.4989C>A (p.Val1663=) c.4809C>A (p.Val1603=) c.5064C>A (p.Val1688=) c.5058C>A (p.Val1686=) c.4626C>A (p.Val1542=) c.4926C>A (p.Val1642=) n.5377C>A | |
9 | g.104798560A= | CA1869916235 | ABCA1 | c.4982T= (p.Val1661=) c.4988T= (p.Val1663=) c.4808T= (p.Val1603=) c.5063T= (p.Val1688=) c.5057T= (p.Val1686=) c.4625T= (p.Val1542=) c.4925T= (p.Val1642=) n.5376T= | |
9 | g.104798560A>C | CA374314212 | ABCA1 | c.4982T>G (p.Val1661Gly) c.4988T>G (p.Val1663Gly) c.4808T>G (p.Val1603Gly) c.5063T>G (p.Val1688Gly) c.5057T>G (p.Val1686Gly) c.4625T>G (p.Val1542Gly) c.4925T>G (p.Val1642Gly) n.5376T>G | |
9 | g.104798560A>G | CA374314213 | ABCA1 | c.4982T>C (p.Val1661Ala) c.4988T>C (p.Val1663Ala) c.4808T>C (p.Val1603Ala) c.5063T>C (p.Val1688Ala) c.5057T>C (p.Val1686Ala) c.4625T>C (p.Val1542Ala) c.4925T>C (p.Val1642Ala) n.5376T>C | dbSNP gnomAD v2 gnomAD v4 |
9 | g.104798560A>T | CA374314214 | ABCA1 | c.4982T>A (p.Val1661Asp) c.4988T>A (p.Val1663Asp) c.4808T>A (p.Val1603Asp) c.5063T>A (p.Val1688Asp) c.5057T>A (p.Val1686Asp) c.4625T>A (p.Val1542Asp) c.4925T>A (p.Val1642Asp) n.5376T>A | |
9 | g.104798561C>A | CA374314216 | ABCA1 | c.4981G>T (p.Val1661Phe) c.4987G>T (p.Val1663Phe) c.4807G>T (p.Val1603Phe) c.5062G>T (p.Val1688Phe) c.5056G>T (p.Val1686Phe) c.4624G>T (p.Val1542Phe) c.4924G>T (p.Val1642Phe) n.5375G>T | |
9 | g.104798561C= | CA1869916243 | ABCA1 | c.4981G= (p.Val1661=) c.4987G= (p.Val1663=) c.4807G= (p.Val1603=) c.5062G= (p.Val1688=) c.5056G= (p.Val1686=) c.4624G= (p.Val1542=) c.4924G= (p.Val1642=) n.5375G= | |
9 | g.104798561C>G | CA374314215 | ABCA1 | c.4981G>C (p.Val1661Leu) c.4987G>C (p.Val1663Leu) c.4807G>C (p.Val1603Leu) c.5062G>C (p.Val1688Leu) c.5056G>C (p.Val1686Leu) c.4624G>C (p.Val1542Leu) c.4924G>C (p.Val1642Leu) n.5375G>C | |
9 | g.104798561C>T | CA5167966 | ABCA1 | c.4981G>A (p.Val1661Ile) c.4987G>A (p.Val1663Ile) c.4807G>A (p.Val1603Ile) c.5062G>A (p.Val1688Ile) c.5056G>A (p.Val1686Ile) c.4624G>A (p.Val1542Ile) c.4924G>A (p.Val1642Ile) n.5375G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.104798562A>C | CA374314217 | ABCA1 | c.4980T>G (p.Cys1660Trp) c.4986T>G (p.Cys1662Trp) c.4806T>G (p.Cys1602Trp) c.5061T>G (p.Cys1687Trp) c.5055T>G (p.Cys1685Trp) c.4623T>G (p.Cys1541Trp) c.4923T>G (p.Cys1641Trp) n.5374T>G | ClinVar |
9 | g.104798562A>G | CA466503203 | ABCA1 | c.4980T>C (p.Cys1660=) c.4986T>C (p.Cys1662=) c.4806T>C (p.Cys1602=) c.5061T>C (p.Cys1687=) c.5055T>C (p.Cys1685=) c.4623T>C (p.Cys1541=) c.4923T>C (p.Cys1641=) n.5374T>C | |
9 | g.104798562A>T | CA374314218 | ABCA1 | c.4980T>A (p.Cys1660Ter) c.4986T>A (p.Cys1662Ter) c.4806T>A (p.Cys1602Ter) c.5061T>A (p.Cys1687Ter) c.5055T>A (p.Cys1685Ter) c.4623T>A (p.Cys1541Ter) c.4923T>A (p.Cys1641Ter) n.5374T>A | |
9 | g.104798563del | CA2785407126 | ABCA1 | c.4979del (p.Cys1660LeufsTer17) c.4985del (p.Cys1662LeufsTer17) c.4805del (p.Cys1602LeufsTer17) c.5060del (p.Cys1687LeufsTer17) c.5054del (p.Cys1685LeufsTer17) c.4622del (p.Cys1541LeufsTer17) c.4922del (p.Cys1641LeufsTer17) n.5373del | |
9 | g.104798563C>A | CA374314219 | ABCA1 | c.4979G>T (p.Cys1660Phe) c.4985G>T (p.Cys1662Phe) c.4805G>T (p.Cys1602Phe) c.5060G>T (p.Cys1687Phe) c.5054G>T (p.Cys1685Phe) c.4622G>T (p.Cys1541Phe) c.4922G>T (p.Cys1641Phe) n.5373G>T | |
9 | g.104798563C>G | CA374314220 | ABCA1 | c.4979G>C (p.Cys1660Ser) c.4985G>C (p.Cys1662Ser) c.4805G>C (p.Cys1602Ser) c.5060G>C (p.Cys1687Ser) c.5054G>C (p.Cys1685Ser) c.4622G>C (p.Cys1541Ser) c.4922G>C (p.Cys1641Ser) n.5373G>C | |
9 | g.104798563C>T | CA374314221 | ABCA1 | c.4979G>A (p.Cys1660Tyr) c.4985G>A (p.Cys1662Tyr) c.4805G>A (p.Cys1602Tyr) c.5060G>A (p.Cys1687Tyr) c.5054G>A (p.Cys1685Tyr) c.4622G>A (p.Cys1541Tyr) c.4922G>A (p.Cys1641Tyr) n.5373G>A | |
9 | g.104798564A>C | CA374314222 | ABCA1 | c.4978T>G (p.Cys1660Gly) c.4984T>G (p.Cys1662Gly) c.4804T>G (p.Cys1602Gly) c.5059T>G (p.Cys1687Gly) c.5053T>G (p.Cys1685Gly) c.4621T>G (p.Cys1541Gly) c.4921T>G (p.Cys1641Gly) n.5372T>G | |
9 | g.104798564A>G | CA374314223 | ABCA1 | c.4978T>C (p.Cys1660Arg) c.4984T>C (p.Cys1662Arg) c.4804T>C (p.Cys1602Arg) c.5059T>C (p.Cys1687Arg) c.5053T>C (p.Cys1685Arg) c.4621T>C (p.Cys1541Arg) c.4921T>C (p.Cys1641Arg) n.5372T>C | dbSNP |
9 | g.104798564A>T | CA374314224 | ABCA1 | c.4978T>A (p.Cys1660Ser) c.4984T>A (p.Cys1662Ser) c.4804T>A (p.Cys1602Ser) c.5059T>A (p.Cys1687Ser) c.5053T>A (p.Cys1685Ser) c.4621T>A (p.Cys1541Ser) c.4921T>A (p.Cys1641Ser) n.5372T>A | |
9 | g.104798565G>A | CA466503205 | ABCA1 | c.4977C>T (p.Ile1659=) c.4983C>T (p.Ile1661=) c.4803C>T (p.Ile1601=) c.5058C>T (p.Ile1686=) c.5052C>T (p.Ile1684=) c.4620C>T (p.Ile1540=) c.4920C>T (p.Ile1640=) n.5371C>T | gnomAD v4 COSMIC |
9 | g.104798565G>C | CA374314225 | ABCA1 | c.4977C>G (p.Ile1659Met) c.4983C>G (p.Ile1661Met) c.4803C>G (p.Ile1601Met) c.5058C>G (p.Ile1686Met) c.5052C>G (p.Ile1684Met) c.4620C>G (p.Ile1540Met) c.4920C>G (p.Ile1640Met) n.5371C>G | |
9 | g.104798565G>T | CA466503204 | ABCA1 | c.4977C>A (p.Ile1659=) c.4983C>A (p.Ile1661=) c.4803C>A (p.Ile1601=) c.5058C>A (p.Ile1686=) c.5052C>A (p.Ile1684=) c.4620C>A (p.Ile1540=) c.4920C>A (p.Ile1640=) n.5371C>A | |
9 | g.104798566A= | CA1869916252 | ABCA1 | c.4976T= (p.Ile1659=) c.4982T= (p.Ile1661=) c.4802T= (p.Ile1601=) c.5057T= (p.Ile1686=) c.5051T= (p.Ile1684=) c.4619T= (p.Ile1540=) c.4919T= (p.Ile1640=) n.5370T= | |
9 | g.104798566A>C | CA374314226 | ABCA1 | c.4976T>G (p.Ile1659Ser) c.4982T>G (p.Ile1661Ser) c.4802T>G (p.Ile1601Ser) c.5057T>G (p.Ile1686Ser) c.5051T>G (p.Ile1684Ser) c.4619T>G (p.Ile1540Ser) c.4919T>G (p.Ile1640Ser) n.5370T>G | dbSNP gnomAD v2 gnomAD v4 |
9 | g.104798566A>G | CA374314227 | ABCA1 | c.4976T>C (p.Ile1659Thr) c.4982T>C (p.Ile1661Thr) c.4802T>C (p.Ile1601Thr) c.5057T>C (p.Ile1686Thr) c.5051T>C (p.Ile1684Thr) c.4619T>C (p.Ile1540Thr) c.4919T>C (p.Ile1640Thr) n.5370T>C | dbSNP |
9 | g.104798566A>T | CA374314228 | ABCA1 | c.4976T>A (p.Ile1659Asn) c.4982T>A (p.Ile1661Asn) c.4802T>A (p.Ile1601Asn) c.5057T>A (p.Ile1686Asn) c.5051T>A (p.Ile1684Asn) c.4619T>A (p.Ile1540Asn) c.4919T>A (p.Ile1640Asn) n.5370T>A | |
9 | g.104798567T>A | CA374314229 | ABCA1 | c.4975A>T (p.Ile1659Phe) c.4981A>T (p.Ile1661Phe) c.4801A>T (p.Ile1601Phe) c.5056A>T (p.Ile1686Phe) c.5050A>T (p.Ile1684Phe) c.4618A>T (p.Ile1540Phe) c.4918A>T (p.Ile1640Phe) n.5369A>T | |
9 | g.104798567T>C | CA374314231 | ABCA1 | c.4975A>G (p.Ile1659Val) c.4981A>G (p.Ile1661Val) c.4801A>G (p.Ile1601Val) c.5056A>G (p.Ile1686Val) c.5050A>G (p.Ile1684Val) c.4618A>G (p.Ile1540Val) c.4918A>G (p.Ile1640Val) n.5369A>G | ClinVar dbSNP |
9 | g.104798567T>G | CA374314230 | ABCA1 | c.4975A>C (p.Ile1659Leu) c.4981A>C (p.Ile1661Leu) c.4801A>C (p.Ile1601Leu) c.5056A>C (p.Ile1686Leu) c.5050A>C (p.Ile1684Leu) c.4618A>C (p.Ile1540Leu) c.4918A>C (p.Ile1640Leu) n.5369A>C | dbSNP |
9 | g.104798567T= | CA1869916267 | ABCA1 | c.4975A= (p.Ile1659=) c.4981A= (p.Ile1661=) c.4801A= (p.Ile1601=) c.5056A= (p.Ile1686=) c.5050A= (p.Ile1684=) c.4618A= (p.Ile1540=) c.4918A= (p.Ile1640=) n.5369A= | |
9 | g.104798568G>A | CA466503207 | ABCA1 | c.4974C>T (p.Ser1658=) c.4980C>T (p.Ser1660=) c.4800C>T (p.Ser1600=) c.5055C>T (p.Ser1685=) c.5049C>T (p.Ser1683=) c.4617C>T (p.Ser1539=) c.4917C>T (p.Ser1639=) n.5368C>T | |
9 | g.104798568G>C | CA466503208 | ABCA1 | c.4974C>G (p.Ser1658=) c.4980C>G (p.Ser1660=) c.4800C>G (p.Ser1600=) c.5055C>G (p.Ser1685=) c.5049C>G (p.Ser1683=) c.4617C>G (p.Ser1539=) c.4917C>G (p.Ser1639=) n.5368C>G | |
9 | g.104798568G>T | CA466503209 | ABCA1 | c.4974C>A (p.Ser1658=) c.4980C>A (p.Ser1660=) c.4800C>A (p.Ser1600=) c.5055C>A (p.Ser1685=) c.5049C>A (p.Ser1683=) c.4617C>A (p.Ser1539=) c.4917C>A (p.Ser1639=) n.5368C>A | |
9 | g.104798569G>A | CA374314232 | ABCA1 | c.4973C>T (p.Ser1658Phe) c.4979C>T (p.Ser1660Phe) c.4799C>T (p.Ser1600Phe) c.5054C>T (p.Ser1685Phe) c.5048C>T (p.Ser1683Phe) c.4616C>T (p.Ser1539Phe) c.4916C>T (p.Ser1639Phe) n.5367C>T | dbSNP |
9 | g.104798569G>C | CA374314234 | ABCA1 | c.4973C>G (p.Ser1658Cys) c.4979C>G (p.Ser1660Cys) c.4799C>G (p.Ser1600Cys) c.5054C>G (p.Ser1685Cys) c.5048C>G (p.Ser1683Cys) c.4616C>G (p.Ser1539Cys) c.4916C>G (p.Ser1639Cys) n.5367C>G | |
9 | g.104798569G= | CA1869916271 | ABCA1 | c.4973C= (p.Ser1658=) c.4979C= (p.Ser1660=) c.4799C= (p.Ser1600=) c.5054C= (p.Ser1685=) c.5048C= (p.Ser1683=) c.4616C= (p.Ser1539=) c.4916C= (p.Ser1639=) n.5367C= | |
9 | g.104798569G>T | CA374314233 | ABCA1 | c.4973C>A (p.Ser1658Tyr) c.4979C>A (p.Ser1660Tyr) c.4799C>A (p.Ser1600Tyr) c.5054C>A (p.Ser1685Tyr) c.5048C>A (p.Ser1683Tyr) c.4616C>A (p.Ser1539Tyr) c.4916C>A (p.Ser1639Tyr) n.5367C>A | |
9 | g.104798570A>C | CA374314235 | ABCA1 | c.4972T>G (p.Ser1658Ala) c.4978T>G (p.Ser1660Ala) c.4798T>G (p.Ser1600Ala) c.5053T>G (p.Ser1685Ala) c.5047T>G (p.Ser1683Ala) c.4615T>G (p.Ser1539Ala) c.4915T>G (p.Ser1639Ala) n.5366T>G | |
9 | g.104798570A>G | CA374314236 | ABCA1 | c.4972T>C (p.Ser1658Pro) c.4978T>C (p.Ser1660Pro) c.4798T>C (p.Ser1600Pro) c.5053T>C (p.Ser1685Pro) c.5047T>C (p.Ser1683Pro) c.4615T>C (p.Ser1539Pro) c.4915T>C (p.Ser1639Pro) n.5366T>C | |
9 | g.104798570A>T | CA374314237 | ABCA1 | c.4972T>A (p.Ser1658Thr) c.4978T>A (p.Ser1660Thr) c.4798T>A (p.Ser1600Thr) c.5053T>A (p.Ser1685Thr) c.5047T>A (p.Ser1683Thr) c.4615T>A (p.Ser1539Thr) c.4915T>A (p.Ser1639Thr) n.5366T>A | |
9 | g.104798571C>A | CA466503210 | ABCA1 | c.4971G>T (p.Val1657=) c.4977G>T (p.Val1659=) c.4797G>T (p.Val1599=) c.5052G>T (p.Val1684=) c.5046G>T (p.Val1682=) c.4614G>T (p.Val1538=) c.4914G>T (p.Val1638=) n.5365G>T | |
9 | g.104798571C>G | CA466503212 | ABCA1 | c.4971G>C (p.Val1657=) c.4977G>C (p.Val1659=) c.4797G>C (p.Val1599=) c.5052G>C (p.Val1684=) c.5046G>C (p.Val1682=) c.4614G>C (p.Val1538=) c.4914G>C (p.Val1638=) n.5365G>C | |
9 | g.104798571C>T | CA466503211 | ABCA1 | c.4971G>A (p.Val1657=) c.4977G>A (p.Val1659=) c.4797G>A (p.Val1599=) c.5052G>A (p.Val1684=) c.5046G>A (p.Val1682=) c.4614G>A (p.Val1538=) c.4914G>A (p.Val1638=) n.5365G>A | |
9 | g.104798572A>C | CA374314238 | ABCA1 | c.4970T>G (p.Val1657Gly) c.4976T>G (p.Val1659Gly) c.4796T>G (p.Val1599Gly) c.5051T>G (p.Val1684Gly) c.5045T>G (p.Val1682Gly) c.4613T>G (p.Val1538Gly) c.4913T>G (p.Val1638Gly) n.5364T>G | gnomAD v4 |
9 | g.104798572A>G | CA374314239 | ABCA1 | c.4970T>C (p.Val1657Ala) c.4976T>C (p.Val1659Ala) c.4796T>C (p.Val1599Ala) c.5051T>C (p.Val1684Ala) c.5045T>C (p.Val1682Ala) c.4613T>C (p.Val1538Ala) c.4913T>C (p.Val1638Ala) n.5364T>C | |
9 | g.104798572A>T | CA374314240 | ABCA1 | c.4970T>A (p.Val1657Glu) c.4976T>A (p.Val1659Glu) c.4796T>A (p.Val1599Glu) c.5051T>A (p.Val1684Glu) c.5045T>A (p.Val1682Glu) c.4613T>A (p.Val1538Glu) c.4913T>A (p.Val1638Glu) n.5364T>A | |
9 | g.104798573C>A | CA374314241 | ABCA1 | c.4969G>T (p.Val1657Leu) c.4975G>T (p.Val1659Leu) c.4795G>T (p.Val1599Leu) c.5050G>T (p.Val1684Leu) c.5044G>T (p.Val1682Leu) c.4612G>T (p.Val1538Leu) c.4912G>T (p.Val1638Leu) n.5363G>T | |
9 | g.104798573C>G | CA374314242 | ABCA1 | c.4969G>C (p.Val1657Leu) c.4975G>C (p.Val1659Leu) c.4795G>C (p.Val1599Leu) c.5050G>C (p.Val1684Leu) c.5044G>C (p.Val1682Leu) c.4612G>C (p.Val1538Leu) c.4912G>C (p.Val1638Leu) n.5363G>C | |
9 | g.104798573C>T | CA374314243 | ABCA1 | c.4969G>A (p.Val1657Met) c.4975G>A (p.Val1659Met) c.4795G>A (p.Val1599Met) c.5050G>A (p.Val1684Met) c.5044G>A (p.Val1682Met) c.4612G>A (p.Val1538Met) c.4912G>A (p.Val1638Met) n.5363G>A | gnomAD v4 |
9 | g.104798574A>C | CA466503216 | ABCA1 | c.4968T>G (p.Leu1656=) c.4974T>G (p.Leu1658=) c.4794T>G (p.Leu1598=) c.5049T>G (p.Leu1683=) c.5043T>G (p.Leu1681=) c.4611T>G (p.Leu1537=) c.4911T>G (p.Leu1637=) n.5362T>G | |
9 | g.104798574A>G | CA466503217 | ABCA1 | c.4968T>C (p.Leu1656=) c.4974T>C (p.Leu1658=) c.4794T>C (p.Leu1598=) c.5049T>C (p.Leu1683=) c.5043T>C (p.Leu1681=) c.4611T>C (p.Leu1537=) c.4911T>C (p.Leu1637=) n.5362T>C | gnomAD v4 |
9 | g.104798574A>T | CA466503218 | ABCA1 | c.4968T>A (p.Leu1656=) c.4974T>A (p.Leu1658=) c.4794T>A (p.Leu1598=) c.5049T>A (p.Leu1683=) c.5043T>A (p.Leu1681=) c.4611T>A (p.Leu1537=) c.4911T>A (p.Leu1637=) n.5362T>A | |
9 | g.104798575A>C | CA374314244 | ABCA1 | c.4967T>G (p.Leu1656Arg) c.4973T>G (p.Leu1658Arg) c.4793T>G (p.Leu1598Arg) c.5048T>G (p.Leu1683Arg) c.5042T>G (p.Leu1681Arg) c.4610T>G (p.Leu1537Arg) c.4910T>G (p.Leu1637Arg) n.5361T>G | |
9 | g.104798575A>G | CA374314245 | ABCA1 | c.4967T>C (p.Leu1656Pro) c.4973T>C (p.Leu1658Pro) c.4793T>C (p.Leu1598Pro) c.5048T>C (p.Leu1683Pro) c.5042T>C (p.Leu1681Pro) c.4610T>C (p.Leu1537Pro) c.4910T>C (p.Leu1637Pro) n.5361T>C | |
9 | g.104798575A>T | CA374314246 | ABCA1 | c.4967T>A (p.Leu1656His) c.4973T>A (p.Leu1658His) c.4793T>A (p.Leu1598His) c.5048T>A (p.Leu1683His) c.5042T>A (p.Leu1681His) c.4610T>A (p.Leu1537His) c.4910T>A (p.Leu1637His) n.5361T>A | |
9 | g.104798576G>A | CA374314249 | ABCA1 | c.4966C>T (p.Leu1656Phe) c.4972C>T (p.Leu1658Phe) c.4792C>T (p.Leu1598Phe) c.5047C>T (p.Leu1683Phe) c.5041C>T (p.Leu1681Phe) c.4609C>T (p.Leu1537Phe) c.4909C>T (p.Leu1637Phe) n.5360C>T | |
9 | g.104798576G>C | CA374314247 | ABCA1 | c.4966C>G (p.Leu1656Val) c.4972C>G (p.Leu1658Val) c.4792C>G (p.Leu1598Val) c.5047C>G (p.Leu1683Val) c.5041C>G (p.Leu1681Val) c.4609C>G (p.Leu1537Val) c.4909C>G (p.Leu1637Val) n.5360C>G | |
9 | g.104798576G>T | CA374314248 | ABCA1 | c.4966C>A (p.Leu1656Ile) c.4972C>A (p.Leu1658Ile) c.4792C>A (p.Leu1598Ile) c.5047C>A (p.Leu1683Ile) c.5041C>A (p.Leu1681Ile) c.4609C>A (p.Leu1537Ile) c.4909C>A (p.Leu1637Ile) n.5360C>A | |
9 | g.104798577G>A | CA466503222 | ABCA1 | c.4965C>T (p.Val1655=) c.4971C>T (p.Val1657=) c.4791C>T (p.Val1597=) c.5046C>T (p.Val1682=) c.5040C>T (p.Val1680=) c.4608C>T (p.Val1536=) c.4908C>T (p.Val1636=) n.5359C>T | gnomAD v4 |
9 | g.104798577G>C | CA466503224 | ABCA1 | c.4965C>G (p.Val1655=) c.4971C>G (p.Val1657=) c.4791C>G (p.Val1597=) c.5046C>G (p.Val1682=) c.5040C>G (p.Val1680=) c.4608C>G (p.Val1536=) c.4908C>G (p.Val1636=) n.5359C>G | |
9 | g.104798577G>T | CA466503223 | ABCA1 | c.4965C>A (p.Val1655=) c.4971C>A (p.Val1657=) c.4791C>A (p.Val1597=) c.5046C>A (p.Val1682=) c.5040C>A (p.Val1680=) c.4608C>A (p.Val1536=) c.4908C>A (p.Val1636=) n.5359C>A | |
9 | g.104798578A>C | CA374314250 | ABCA1 | c.4964T>G (p.Val1655Gly) c.4970T>G (p.Val1657Gly) c.4790T>G (p.Val1597Gly) c.5045T>G (p.Val1682Gly) c.5039T>G (p.Val1680Gly) c.4607T>G (p.Val1536Gly) c.4907T>G (p.Val1636Gly) n.5358T>G | |
9 | g.104798578A>G | CA374314251 | ABCA1 | c.4964T>C (p.Val1655Ala) c.4970T>C (p.Val1657Ala) c.4790T>C (p.Val1597Ala) c.5045T>C (p.Val1682Ala) c.5039T>C (p.Val1680Ala) c.4607T>C (p.Val1536Ala) c.4907T>C (p.Val1636Ala) n.5358T>C | |
9 | g.104798578A>T | CA374314252 | ABCA1 | c.4964T>A (p.Val1655Asp) c.4970T>A (p.Val1657Asp) c.4790T>A (p.Val1597Asp) c.5045T>A (p.Val1682Asp) c.5039T>A (p.Val1680Asp) c.4607T>A (p.Val1536Asp) c.4907T>A (p.Val1636Asp) n.5358T>A |