| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 | |
| 9 | g.104798579C>A | CA374314253 | ABCA1 | c.4963G>T (p.Val1655Phe) c.4969G>T (p.Val1657Phe) c.4789G>T (p.Val1597Phe) c.5044G>T (p.Val1682Phe) c.5038G>T (p.Val1680Phe) c.4606G>T (p.Val1536Phe) c.4906G>T (p.Val1636Phe) n.5357G>T | |
| 9 | g.104798579C= | CA1869916277 | ABCA1 | c.4963G= (p.Val1655=) c.4969G= (p.Val1657=) c.4789G= (p.Val1597=) c.5044G= (p.Val1682=) c.5038G= (p.Val1680=) c.4606G= (p.Val1536=) c.4906G= (p.Val1636=) n.5357G= | |
| 9 | g.104798579C>G | CA374314254 | ABCA1 | c.4963G>C (p.Val1655Leu) c.4969G>C (p.Val1657Leu) c.4789G>C (p.Val1597Leu) c.5044G>C (p.Val1682Leu) c.5038G>C (p.Val1680Leu) c.4606G>C (p.Val1536Leu) c.4906G>C (p.Val1636Leu) n.5357G>C | dbSNP gnomAD v4 |
| 9 | g.104798579C>T | CA374314255 | ABCA1 | c.4963G>A (p.Val1655Ile) c.4969G>A (p.Val1657Ile) c.4789G>A (p.Val1597Ile) c.5044G>A (p.Val1682Ile) c.5038G>A (p.Val1680Ile) c.4606G>A (p.Val1536Ile) c.4906G>A (p.Val1636Ile) n.5357G>A | gnomAD v4 |
| 9 | g.104798580A>C | CA374314256 | ABCA1 | c.4962T>G (p.Asp1654Glu) c.4968T>G (p.Asp1656Glu) c.4788T>G (p.Asp1596Glu) c.5043T>G (p.Asp1681Glu) c.5037T>G (p.Asp1679Glu) c.4605T>G (p.Asp1535Glu) c.4905T>G (p.Asp1635Glu) n.5356T>G | |
| 9 | g.104798580A>G | CA466503226 | ABCA1 | c.4962T>C (p.Asp1654=) c.4968T>C (p.Asp1656=) c.4788T>C (p.Asp1596=) c.5043T>C (p.Asp1681=) c.5037T>C (p.Asp1679=) c.4605T>C (p.Asp1535=) c.4905T>C (p.Asp1635=) n.5356T>C | |
| 9 | g.104798580A>T | CA374314257 | ABCA1 | c.4962T>A (p.Asp1654Glu) c.4968T>A (p.Asp1656Glu) c.4788T>A (p.Asp1596Glu) c.5043T>A (p.Asp1681Glu) c.5037T>A (p.Asp1679Glu) c.4605T>A (p.Asp1535Glu) c.4905T>A (p.Asp1635Glu) n.5356T>A | |
| 9 | g.104798581T>A | CA374314258 | ABCA1 | c.4961A>T (p.Asp1654Val) c.4967A>T (p.Asp1656Val) c.4787A>T (p.Asp1596Val) c.5042A>T (p.Asp1681Val) c.5036A>T (p.Asp1679Val) c.4604A>T (p.Asp1535Val) c.4904A>T (p.Asp1635Val) n.5355A>T | |
| 9 | g.104798581T>C | CA374314259 | ABCA1 | c.4961A>G (p.Asp1654Gly) c.4967A>G (p.Asp1656Gly) c.4787A>G (p.Asp1596Gly) c.5042A>G (p.Asp1681Gly) c.5036A>G (p.Asp1679Gly) c.4604A>G (p.Asp1535Gly) c.4904A>G (p.Asp1635Gly) n.5355A>G | |
| 9 | g.104798581T>G | CA374314260 | ABCA1 | c.4961A>C (p.Asp1654Ala) c.4967A>C (p.Asp1656Ala) c.4787A>C (p.Asp1596Ala) c.5042A>C (p.Asp1681Ala) c.5036A>C (p.Asp1679Ala) c.4604A>C (p.Asp1535Ala) c.4904A>C (p.Asp1635Ala) n.5355A>C | gnomAD v4 |
| 9 | g.104798582C>A | CA374314263 | ABCA1 | c.4960G>T (p.Asp1654Tyr) c.4966G>T (p.Asp1656Tyr) c.4786G>T (p.Asp1596Tyr) c.5041G>T (p.Asp1681Tyr) c.5035G>T (p.Asp1679Tyr) c.4603G>T (p.Asp1535Tyr) c.4903G>T (p.Asp1635Tyr) n.5354G>T | |
| 9 | g.104798582C>G | CA374314262 | ABCA1 | c.4960G>C (p.Asp1654His) c.4966G>C (p.Asp1656His) c.4786G>C (p.Asp1596His) c.5041G>C (p.Asp1681His) c.5035G>C (p.Asp1679His) c.4603G>C (p.Asp1535His) c.4903G>C (p.Asp1635His) n.5354G>C | |
| 9 | g.104798582C>T | CA374314261 | ABCA1 | c.4960G>A (p.Asp1654Asn) c.4966G>A (p.Asp1656Asn) c.4786G>A (p.Asp1596Asn) c.5041G>A (p.Asp1681Asn) c.5035G>A (p.Asp1679Asn) c.4603G>A (p.Asp1535Asn) c.4903G>A (p.Asp1635Asn) n.5354G>A | |
| 9 | g.104798583C>A | CA466503228 | ABCA1 | c.4959G>T (p.Val1653=) c.4965G>T (p.Val1655=) c.4785G>T (p.Val1595=) c.5040G>T (p.Val1680=) c.5034G>T (p.Val1678=) c.4602G>T (p.Val1534=) c.4902G>T (p.Val1634=) n.5353G>T | |
| 9 | g.104798583C>G | CA466503229 | ABCA1 | c.4959G>C (p.Val1653=) c.4965G>C (p.Val1655=) c.4785G>C (p.Val1595=) c.5040G>C (p.Val1680=) c.5034G>C (p.Val1678=) c.4602G>C (p.Val1534=) c.4902G>C (p.Val1634=) n.5353G>C | |
| 9 | g.104798583C>T | CA466503230 | ABCA1 | c.4959G>A (p.Val1653=) c.4965G>A (p.Val1655=) c.4785G>A (p.Val1595=) c.5040G>A (p.Val1680=) c.5034G>A (p.Val1678=) c.4602G>A (p.Val1534=) c.4902G>A (p.Val1634=) n.5353G>A | ClinVar gnomAD v4 |
| 9 | g.104798584A= | CA1869916281 | ABCA1 | c.4958T= (p.Val1653=) c.4964T= (p.Val1655=) c.4784T= (p.Val1595=) c.5039T= (p.Val1680=) c.5033T= (p.Val1678=) c.4601T= (p.Val1534=) c.4901T= (p.Val1634=) n.5352T= | |
| 9 | g.104798584A>C | CA374314264 | ABCA1 | c.4958T>G (p.Val1653Gly) c.4964T>G (p.Val1655Gly) c.4784T>G (p.Val1595Gly) c.5039T>G (p.Val1680Gly) c.5033T>G (p.Val1678Gly) c.4601T>G (p.Val1534Gly) c.4901T>G (p.Val1634Gly) n.5352T>G | |
| 9 | g.104798584A>G | CA374314265 | ABCA1 | c.4958T>C (p.Val1653Ala) c.4964T>C (p.Val1655Ala) c.4784T>C (p.Val1595Ala) c.5039T>C (p.Val1680Ala) c.5033T>C (p.Val1678Ala) c.4601T>C (p.Val1534Ala) c.4901T>C (p.Val1634Ala) n.5352T>C | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.104798584A>T | CA374314266 | ABCA1 | c.4958T>A (p.Val1653Glu) c.4964T>A (p.Val1655Glu) c.4784T>A (p.Val1595Glu) c.5039T>A (p.Val1680Glu) c.5033T>A (p.Val1678Glu) c.4601T>A (p.Val1534Glu) c.4901T>A (p.Val1634Glu) n.5352T>A | |
| 9 | g.104798585C>A | CA374314267 | ABCA1 | c.4957G>T (p.Val1653Leu) c.4963G>T (p.Val1655Leu) c.4783G>T (p.Val1595Leu) c.5038G>T (p.Val1680Leu) c.5032G>T (p.Val1678Leu) c.4600G>T (p.Val1534Leu) c.4900G>T (p.Val1634Leu) n.5351G>T | |
| 9 | g.104798585C= | CA1869916283 | ABCA1 | c.4957G= (p.Val1653=) c.4963G= (p.Val1655=) c.4783G= (p.Val1595=) c.5038G= (p.Val1680=) c.5032G= (p.Val1678=) c.4600G= (p.Val1534=) c.4900G= (p.Val1634=) n.5351G= | |
| 9 | g.104798585C>G | CA374314268 | ABCA1 | c.4957G>C (p.Val1653Leu) c.4963G>C (p.Val1655Leu) c.4783G>C (p.Val1595Leu) c.5038G>C (p.Val1680Leu) c.5032G>C (p.Val1678Leu) c.4600G>C (p.Val1534Leu) c.4900G>C (p.Val1634Leu) n.5351G>C | |
| 9 | g.104798585C>T | CA374314269 | ABCA1 | c.4957G>A (p.Val1653Met) c.4963G>A (p.Val1655Met) c.4783G>A (p.Val1595Met) c.5038G>A (p.Val1680Met) c.5032G>A (p.Val1678Met) c.4600G>A (p.Val1534Met) c.4900G>A (p.Val1634Met) n.5351G>A | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.104798585_104798600dup | CA2691050648 | ABCA1 | c.4944-2_4957dup c.4950-2_4963dup c.4770-2_4783dup c.5025-2_5038dup c.5019-2_5032dup c.4587-2_4600dup c.4887-2_4900dup n.5338-2_5351dup | gnomAD v4 |
| 9 | g.104798586T>A | CA466503236 | ABCA1 | c.4956A>T (p.Ser1652=) c.4962A>T (p.Ser1654=) c.4782A>T (p.Ser1594=) c.5037A>T (p.Ser1679=) c.5031A>T (p.Ser1677=) c.4599A>T (p.Ser1533=) c.4899A>T (p.Ser1633=) n.5350A>T | |
| 9 | g.104798586T>C | CA466503233 | ABCA1 | c.4956A>G (p.Ser1652=) c.4962A>G (p.Ser1654=) c.4782A>G (p.Ser1594=) c.5037A>G (p.Ser1679=) c.5031A>G (p.Ser1677=) c.4599A>G (p.Ser1533=) c.4899A>G (p.Ser1633=) n.5350A>G | gnomAD v4 |
| 9 | g.104798586T>G | CA466503235 | ABCA1 | c.4956A>C (p.Ser1652=) c.4962A>C (p.Ser1654=) c.4782A>C (p.Ser1594=) c.5037A>C (p.Ser1679=) c.5031A>C (p.Ser1677=) c.4599A>C (p.Ser1533=) c.4899A>C (p.Ser1633=) n.5350A>C | |
| 9 | g.104798587G>A | CA374314270 | ABCA1 | c.4955C>T (p.Ser1652Leu) c.4961C>T (p.Ser1654Leu) c.4781C>T (p.Ser1594Leu) c.5036C>T (p.Ser1679Leu) c.5030C>T (p.Ser1677Leu) c.4598C>T (p.Ser1533Leu) c.4898C>T (p.Ser1633Leu) n.5349C>T | |
| 9 | g.104798587G>C | CA374314271 | ABCA1 | c.4955C>G (p.Ser1652Ter) c.4961C>G (p.Ser1654Ter) c.4781C>G (p.Ser1594Ter) c.5036C>G (p.Ser1679Ter) c.5030C>G (p.Ser1677Ter) c.4598C>G (p.Ser1533Ter) c.4898C>G (p.Ser1633Ter) n.5349C>G | |
| 9 | g.104798587G>T | CA374314272 | ABCA1 | c.4955C>A (p.Ser1652Ter) c.4961C>A (p.Ser1654Ter) c.4781C>A (p.Ser1594Ter) c.5036C>A (p.Ser1679Ter) c.5030C>A (p.Ser1677Ter) c.4598C>A (p.Ser1533Ter) c.4898C>A (p.Ser1633Ter) n.5349C>A | |
| 9 | g.104798588A>C | CA374314273 | ABCA1 | c.4954T>G (p.Ser1652Ala) c.4960T>G (p.Ser1654Ala) c.4780T>G (p.Ser1594Ala) c.5035T>G (p.Ser1679Ala) c.5029T>G (p.Ser1677Ala) c.4597T>G (p.Ser1533Ala) c.4897T>G (p.Ser1633Ala) n.5348T>G | |
| 9 | g.104798588A>G | CA374314274 | ABCA1 | c.4954T>C (p.Ser1652Pro) c.4960T>C (p.Ser1654Pro) c.4780T>C (p.Ser1594Pro) c.5035T>C (p.Ser1679Pro) c.5029T>C (p.Ser1677Pro) c.4597T>C (p.Ser1533Pro) c.4897T>C (p.Ser1633Pro) n.5348T>C | COSMIC |
| 9 | g.104798588A>T | CA374314275 | ABCA1 | c.4954T>A (p.Ser1652Thr) c.4960T>A (p.Ser1654Thr) c.4780T>A (p.Ser1594Thr) c.5035T>A (p.Ser1679Thr) c.5029T>A (p.Ser1677Thr) c.4597T>A (p.Ser1533Thr) c.4897T>A (p.Ser1633Thr) n.5348T>A | |
| 9 | g.104798589T>A | CA466503238 | ABCA1 | c.4953A>T (p.Thr1651=) c.4959A>T (p.Thr1653=) c.4779A>T (p.Thr1593=) c.5034A>T (p.Thr1678=) c.5028A>T (p.Thr1676=) c.4596A>T (p.Thr1532=) c.4896A>T (p.Thr1632=) n.5347A>T | |
| 9 | g.104798589T>C | CA466503239 | ABCA1 | c.4953A>G (p.Thr1651=) c.4959A>G (p.Thr1653=) c.4779A>G (p.Thr1593=) c.5034A>G (p.Thr1678=) c.5028A>G (p.Thr1676=) c.4596A>G (p.Thr1532=) c.4896A>G (p.Thr1632=) n.5347A>G | |
| 9 | g.104798589T>G | CA466503240 | ABCA1 | c.4953A>C (p.Thr1651=) c.4959A>C (p.Thr1653=) c.4779A>C (p.Thr1593=) c.5034A>C (p.Thr1678=) c.5028A>C (p.Thr1676=) c.4596A>C (p.Thr1532=) c.4896A>C (p.Thr1632=) n.5347A>C | |
| 9 | g.104798590G>A | CA374314278 | ABCA1 | c.4952C>T (p.Thr1651Ile) c.4958C>T (p.Thr1653Ile) c.4778C>T (p.Thr1593Ile) c.5033C>T (p.Thr1678Ile) c.5027C>T (p.Thr1676Ile) c.4595C>T (p.Thr1532Ile) c.4895C>T (p.Thr1632Ile) n.5346C>T | gnomAD v4 |
| 9 | g.104798590G>C | CA374314277 | ABCA1 | c.4952C>G (p.Thr1651Arg) c.4958C>G (p.Thr1653Arg) c.4778C>G (p.Thr1593Arg) c.5033C>G (p.Thr1678Arg) c.5027C>G (p.Thr1676Arg) c.4595C>G (p.Thr1532Arg) c.4895C>G (p.Thr1632Arg) n.5346C>G | |
| 9 | g.104798590G>T | CA374314276 | ABCA1 | c.4952C>A (p.Thr1651Lys) c.4958C>A (p.Thr1653Lys) c.4778C>A (p.Thr1593Lys) c.5033C>A (p.Thr1678Lys) c.5027C>A (p.Thr1676Lys) c.4595C>A (p.Thr1532Lys) c.4895C>A (p.Thr1632Lys) n.5346C>A | |
| 9 | g.104798591T>A | CA374314279 | ABCA1 | c.4951A>T (p.Thr1651Ser) c.4957A>T (p.Thr1653Ser) c.4777A>T (p.Thr1593Ser) c.5032A>T (p.Thr1678Ser) c.5026A>T (p.Thr1676Ser) c.4594A>T (p.Thr1532Ser) c.4894A>T (p.Thr1632Ser) n.5345A>T | |
| 9 | g.104798591T>C | CA374314280 | ABCA1 | c.4951A>G (p.Thr1651Ala) c.4957A>G (p.Thr1653Ala) c.4777A>G (p.Thr1593Ala) c.5032A>G (p.Thr1678Ala) c.5026A>G (p.Thr1676Ala) c.4594A>G (p.Thr1532Ala) c.4894A>G (p.Thr1632Ala) n.5345A>G | |
| 9 | g.104798591T>G | CA374314281 | ABCA1 | c.4951A>C (p.Thr1651Pro) c.4957A>C (p.Thr1653Pro) c.4777A>C (p.Thr1593Pro) c.5032A>C (p.Thr1678Pro) c.5026A>C (p.Thr1676Pro) c.4594A>C (p.Thr1532Pro) c.4894A>C (p.Thr1632Pro) n.5345A>C | |
| 9 | g.104798592G>A | CA466503242 | ABCA1 | c.4950C>T (p.Thr1650=) c.4956C>T (p.Thr1652=) c.4776C>T (p.Thr1592=) c.5031C>T (p.Thr1677=) c.5025C>T (p.Thr1675=) c.4593C>T (p.Thr1531=) c.4893C>T (p.Thr1631=) n.5344C>T | |
| 9 | g.104798592G>C | CA466503245 | ABCA1 | c.4950C>G (p.Thr1650=) c.4956C>G (p.Thr1652=) c.4776C>G (p.Thr1592=) c.5031C>G (p.Thr1677=) c.5025C>G (p.Thr1675=) c.4593C>G (p.Thr1531=) c.4893C>G (p.Thr1631=) n.5344C>G | |
| 9 | g.104798592G>T | CA466503244 | ABCA1 | c.4950C>A (p.Thr1650=) c.4956C>A (p.Thr1652=) c.4776C>A (p.Thr1592=) c.5031C>A (p.Thr1677=) c.5025C>A (p.Thr1675=) c.4593C>A (p.Thr1531=) c.4893C>A (p.Thr1631=) n.5344C>A | |
| 9 | g.104798593G>A | CA374314282 | ABCA1 | c.4949C>T (p.Thr1650Ile) c.4955C>T (p.Thr1652Ile) c.4775C>T (p.Thr1592Ile) c.5030C>T (p.Thr1677Ile) c.5024C>T (p.Thr1675Ile) c.4592C>T (p.Thr1531Ile) c.4892C>T (p.Thr1631Ile) n.5343C>T | dbSNP |
| 9 | g.104798593G>C | CA374314283 | ABCA1 | c.4949C>G (p.Thr1650Ser) c.4955C>G (p.Thr1652Ser) c.4775C>G (p.Thr1592Ser) c.5030C>G (p.Thr1677Ser) c.5024C>G (p.Thr1675Ser) c.4592C>G (p.Thr1531Ser) c.4892C>G (p.Thr1631Ser) n.5343C>G | |
| 9 | g.104798593G= | CA1869916294 | ABCA1 | c.4949C= (p.Thr1650=) c.4955C= (p.Thr1652=) c.4775C= (p.Thr1592=) c.5030C= (p.Thr1677=) c.5024C= (p.Thr1675=) c.4592C= (p.Thr1531=) c.4892C= (p.Thr1631=) n.5343C= | |
| 9 | g.104798593G>T | CA374314284 | ABCA1 | c.4949C>A (p.Thr1650Asn) c.4955C>A (p.Thr1652Asn) c.4775C>A (p.Thr1592Asn) c.5030C>A (p.Thr1677Asn) c.5024C>A (p.Thr1675Asn) c.4592C>A (p.Thr1531Asn) c.4892C>A (p.Thr1631Asn) n.5343C>A | |
| 9 | g.104798594T>A | CA374314285 | ABCA1 | c.4948A>T (p.Thr1650Ser) c.4954A>T (p.Thr1652Ser) c.4774A>T (p.Thr1592Ser) c.5029A>T (p.Thr1677Ser) c.5023A>T (p.Thr1675Ser) c.4591A>T (p.Thr1531Ser) c.4891A>T (p.Thr1631Ser) n.5342A>T | |
| 9 | g.104798594T>C | CA374314286 | ABCA1 | c.4948A>G (p.Thr1650Ala) c.4954A>G (p.Thr1652Ala) c.4774A>G (p.Thr1592Ala) c.5029A>G (p.Thr1677Ala) c.5023A>G (p.Thr1675Ala) c.4591A>G (p.Thr1531Ala) c.4891A>G (p.Thr1631Ala) n.5342A>G | gnomAD v4 |
| 9 | g.104798594T>G | CA374314287 | ABCA1 | c.4948A>C (p.Thr1650Pro) c.4954A>C (p.Thr1652Pro) c.4774A>C (p.Thr1592Pro) c.5029A>C (p.Thr1677Pro) c.5023A>C (p.Thr1675Pro) c.4591A>C (p.Thr1531Pro) c.4891A>C (p.Thr1631Pro) n.5342A>C | |
| 9 | g.104798595C>A | CA374314288 | ABCA1 | c.4947G>T (p.Met1649Ile) c.4953G>T (p.Met1651Ile) c.4773G>T (p.Met1591Ile) c.5028G>T (p.Met1676Ile) c.5022G>T (p.Met1674Ile) c.4590G>T (p.Met1530Ile) c.4890G>T (p.Met1630Ile) n.5341G>T | gnomAD v4 |
| 9 | g.104798595C>G | CA374314289 | ABCA1 | c.4947G>C (p.Met1649Ile) c.4953G>C (p.Met1651Ile) c.4773G>C (p.Met1591Ile) c.5028G>C (p.Met1676Ile) c.5022G>C (p.Met1674Ile) c.4590G>C (p.Met1530Ile) c.4890G>C (p.Met1630Ile) n.5341G>C | |
| 9 | g.104798595C>T | CA374314290 | ABCA1 | c.4947G>A (p.Met1649Ile) c.4953G>A (p.Met1651Ile) c.4773G>A (p.Met1591Ile) c.5028G>A (p.Met1676Ile) c.5022G>A (p.Met1674Ile) c.4590G>A (p.Met1530Ile) c.4890G>A (p.Met1630Ile) n.5341G>A | |
| 9 | g.104798596A>C | CA374314291 | ABCA1 | c.4946T>G (p.Met1649Arg) c.4952T>G (p.Met1651Arg) c.4772T>G (p.Met1591Arg) c.5027T>G (p.Met1676Arg) c.5021T>G (p.Met1674Arg) c.4589T>G (p.Met1530Arg) c.4889T>G (p.Met1630Arg) n.5340T>G | |
| 9 | g.104798596A>G | CA374314293 | ABCA1 | c.4946T>C (p.Met1649Thr) c.4952T>C (p.Met1651Thr) c.4772T>C (p.Met1591Thr) c.5027T>C (p.Met1676Thr) c.5021T>C (p.Met1674Thr) c.4589T>C (p.Met1530Thr) c.4889T>C (p.Met1630Thr) n.5340T>C | |
| 9 | g.104798596A>T | CA374314292 | ABCA1 | c.4946T>A (p.Met1649Lys) c.4952T>A (p.Met1651Lys) c.4772T>A (p.Met1591Lys) c.5027T>A (p.Met1676Lys) c.5021T>A (p.Met1674Lys) c.4589T>A (p.Met1530Lys) c.4889T>A (p.Met1630Lys) n.5340T>A | |
| 9 | g.104798596_104798597insAG | CA2785407128 | ABCA1 | c.4945_4946insCT (p.Met1649ThrfsTer2) c.4951_4952insCT (p.Met1651ThrfsTer2) c.4771_4772insCT (p.Met1591ThrfsTer2) c.5026_5027insCT (p.Met1676ThrfsTer2) c.5020_5021insCT (p.Met1674ThrfsTer2) c.4588_4589insCT (p.Met1530ThrfsTer2) c.4888_4889insCT (p.Met1630ThrfsTer2) n.5339_5340insCT | |
| 9 | g.104798597T>A | CA374314294 | ABCA1 | c.4945A>T (p.Met1649Leu) c.4951A>T (p.Met1651Leu) c.4771A>T (p.Met1591Leu) c.5026A>T (p.Met1676Leu) c.5020A>T (p.Met1674Leu) c.4588A>T (p.Met1530Leu) c.4888A>T (p.Met1630Leu) n.5339A>T | ClinVar |
| 9 | g.104798597T>C | CA374314296 | ABCA1 | c.4945A>G (p.Met1649Val) c.4951A>G (p.Met1651Val) c.4771A>G (p.Met1591Val) c.5026A>G (p.Met1676Val) c.5020A>G (p.Met1674Val) c.4588A>G (p.Met1530Val) c.4888A>G (p.Met1630Val) n.5339A>G | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.104798597T>G | CA374314295 | ABCA1 | c.4945A>C (p.Met1649Leu) c.4951A>C (p.Met1651Leu) c.4771A>C (p.Met1591Leu) c.5026A>C (p.Met1676Leu) c.5020A>C (p.Met1674Leu) c.4588A>C (p.Met1530Leu) c.4888A>C (p.Met1630Leu) n.5339A>C | |
| 9 | g.104798597T= | CA1869916297 | ABCA1 | c.4945A= (p.Met1649=) c.4951A= (p.Met1651=) c.4771A= (p.Met1591=) c.5026A= (p.Met1676=) c.5020A= (p.Met1674=) c.4588A= (p.Met1530=) c.4888A= (p.Met1630=) n.5339A= | |
| 9 | g.104798598C>A | CA466503249 | ABCA1 | c.4944G>T (p.Leu1648=) c.4950G>T (p.Leu1650=) c.4770G>T (p.Leu1590=) c.5025G>T (p.Leu1675=) c.5019G>T (p.Leu1673=) c.4587G>T (p.Leu1529=) c.4887G>T (p.Leu1629=) n.5338G>T | gnomAD v4 |
| 9 | g.104798598C>G | CA466503250 | ABCA1 | c.4944G>C (p.Leu1648=) c.4950G>C (p.Leu1650=) c.4770G>C (p.Leu1590=) c.5025G>C (p.Leu1675=) c.5019G>C (p.Leu1673=) c.4587G>C (p.Leu1529=) c.4887G>C (p.Leu1629=) n.5338G>C | COSMIC |
| 9 | g.104798598C>T | CA466503251 | ABCA1 | c.4944G>A (p.Leu1648=) c.4950G>A (p.Leu1650=) c.4770G>A (p.Leu1590=) c.5025G>A (p.Leu1675=) c.5019G>A (p.Leu1673=) c.4587G>A (p.Leu1529=) c.4887G>A (p.Leu1629=) n.5338G>A | |
| 9 | g.104798599C>A | CA374314297 | ABCA1 | c.4944-1G>T (n.4944-1G>T) c.4950-1G>T (n.4950-1G>T) c.4770-1G>T (n.4770-1G>T) c.5025-1G>T (n.5025-1G>T) c.5019-1G>T (n.5019-1G>T) c.4587-1G>T (n.4587-1G>T) c.4887-1G>T (n.4887-1G>T) n.5338-1G>T | |
| 9 | g.104798599C= | CA1869916301 | ABCA1 | c.4944-1G= (n.4944-1G=) c.4950-1G= (n.4950-1G=) c.4770-1G= (n.4770-1G=) c.5025-1G= (n.5025-1G=) c.5019-1G= (n.5019-1G=) c.4587-1G= (n.4587-1G=) c.4887-1G= (n.4887-1G=) n.5338-1G= | |
| 9 | g.104798599C>G | CA374314299 | ABCA1 | c.4944-1G>C (n.4944-1G>C) c.4950-1G>C (n.4950-1G>C) c.4770-1G>C (n.4770-1G>C) c.5025-1G>C (n.5025-1G>C) c.5019-1G>C (n.5019-1G>C) c.4587-1G>C (n.4587-1G>C) c.4887-1G>C (n.4887-1G>C) n.5338-1G>C | |
| 9 | g.104798599C>T | CA374314298 | ABCA1 | c.4944-1G>A (n.4944-1G>A) c.4950-1G>A (n.4950-1G>A) c.4770-1G>A (n.4770-1G>A) c.5025-1G>A (n.5025-1G>A) c.5019-1G>A (n.5019-1G>A) c.4587-1G>A (n.4587-1G>A) c.4887-1G>A (n.4887-1G>A) n.5338-1G>A | dbSNP |
| 9 | g.104798600T>A | CA374314300 | ABCA1 | c.4944-2A>T (n.4944-2A>T) c.4950-2A>T (n.4950-2A>T) c.4770-2A>T (n.4770-2A>T) c.5025-2A>T (n.5025-2A>T) c.5019-2A>T (n.5019-2A>T) c.4587-2A>T (n.4587-2A>T) c.4887-2A>T (n.4887-2A>T) n.5338-2A>T | |
| 9 | g.104798600T>C | CA374314301 | ABCA1 | c.4944-2A>G (n.4944-2A>G) c.4950-2A>G (n.4950-2A>G) c.4770-2A>G (n.4770-2A>G) c.5025-2A>G (n.5025-2A>G) c.5019-2A>G (n.5019-2A>G) c.4587-2A>G (n.4587-2A>G) c.4887-2A>G (n.4887-2A>G) n.5338-2A>G | |
| 9 | g.104798600T>G | CA374314302 | ABCA1 | c.4944-2A>C (n.4944-2A>C) c.4950-2A>C (n.4950-2A>C) c.4770-2A>C (n.4770-2A>C) c.5025-2A>C (n.5025-2A>C) c.5019-2A>C (n.5019-2A>C) c.4587-2A>C (n.4587-2A>C) c.4887-2A>C (n.4887-2A>C) n.5338-2A>C | |
| 9 | g.104798600_104798601insA | CA2785407132 | ABCA1 | c.4944-3_4944-2insT (n.4944-3_4944-2insT) c.4950-3_4950-2insT (n.4950-3_4950-2insT) c.4770-3_4770-2insT (n.4770-3_4770-2insT) c.5025-3_5025-2insT (n.5025-3_5025-2insT) c.5019-3_5019-2insT (n.5019-3_5019-2insT) c.4587-3_4587-2insT (n.4587-3_4587-2insT) c.4887-3_4887-2insT (n.4887-3_4887-2insT) n.5338-3_5338-2insT | |
| 9 | g.104798602G>A | CA590046410 | ABCA1 | c.4944-4C>T (n.4944-4C>T) c.4950-4C>T (n.4950-4C>T) c.4770-4C>T (n.4770-4C>T) c.5025-4C>T (n.5025-4C>T) c.5019-4C>T (n.5019-4C>T) c.4587-4C>T (n.4587-4C>T) c.4887-4C>T (n.4887-4C>T) n.5338-4C>T | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.104798602G>C | CA5167967 | ABCA1 | c.4944-4C>G (n.4944-4C>G) c.4950-4C>G (n.4950-4C>G) c.4770-4C>G (n.4770-4C>G) c.5025-4C>G (n.5025-4C>G) c.5019-4C>G (n.5019-4C>G) c.4587-4C>G (n.4587-4C>G) c.4887-4C>G (n.4887-4C>G) n.5338-4C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.104798602G= | CA1869916307 | ABCA1 | c.4944-4C= (n.4944-4C=) c.4950-4C= (n.4950-4C=) c.4770-4C= (n.4770-4C=) c.5025-4C= (n.5025-4C=) c.5019-4C= (n.5019-4C=) c.4587-4C= (n.4587-4C=) c.4887-4C= (n.4887-4C=) n.5338-4C= | |
| 9 | g.104798602G>T | CA2785407133 | ABCA1 | c.4944-4C>A (n.4944-4C>A) c.4950-4C>A (n.4950-4C>A) c.4770-4C>A (n.4770-4C>A) c.5025-4C>A (n.5025-4C>A) c.5019-4C>A (n.5019-4C>A) c.4587-4C>A (n.4587-4C>A) c.4887-4C>A (n.4887-4C>A) n.5338-4C>A | |
| 9 | g.104798604G>A | CA5167968 | ABCA1 | c.4944-6C>T (n.4944-6C>T) c.4950-6C>T (n.4950-6C>T) c.4770-6C>T (n.4770-6C>T) c.5025-6C>T (n.5025-6C>T) c.5019-6C>T (n.5019-6C>T) c.4587-6C>T (n.4587-6C>T) c.4887-6C>T (n.4887-6C>T) n.5338-6C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.104798604G= | CA1869916318 | ABCA1 | c.4944-6C= (n.4944-6C=) c.4950-6C= (n.4950-6C=) c.4770-6C= (n.4770-6C=) c.5025-6C= (n.5025-6C=) c.5019-6C= (n.5019-6C=) c.4587-6C= (n.4587-6C=) c.4887-6C= (n.4887-6C=) n.5338-6C= | |
| 9 | g.104798607A= | CA1869916329 | ABCA1 | c.4944-9T= (n.4944-9T=) c.4950-9T= (n.4950-9T=) c.4770-9T= (n.4770-9T=) c.5025-9T= (n.5025-9T=) c.5019-9T= (n.5019-9T=) c.4587-9T= (n.4587-9T=) c.4887-9T= (n.4887-9T=) n.5338-9T= | |
| 9 | g.104798607A>G | CA590046411 | ABCA1 | c.4944-9T>C (n.4944-9T>C) c.4950-9T>C (n.4950-9T>C) c.4770-9T>C (n.4770-9T>C) c.5025-9T>C (n.5025-9T>C) c.5019-9T>C (n.5019-9T>C) c.4587-9T>C (n.4587-9T>C) c.4887-9T>C (n.4887-9T>C) n.5338-9T>C | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.104798611dup | CA2691050649 | ABCA1 | c.4944-9dup (n.4944-9dup) c.4950-9dup (n.4950-9dup) c.4770-9dup (n.4770-9dup) c.5025-9dup (n.5025-9dup) c.5019-9dup (n.5019-9dup) c.4587-9dup (n.4587-9dup) c.4887-9dup (n.4887-9dup) n.5338-9dup | gnomAD v4 |
| 9 | g.104798608A= | CA1869916337 | ABCA1 | c.4944-10T= (n.4944-10T=) c.4950-10T= (n.4950-10T=) c.4770-10T= (n.4770-10T=) c.5025-10T= (n.5025-10T=) c.5019-10T= (n.5019-10T=) c.4587-10T= (n.4587-10T=) c.4887-10T= (n.4887-10T=) n.5338-10T= | |
| 9 | g.104798608A>G | CA1869916345 | ABCA1 | c.4944-10T>C (n.4944-10T>C) c.4950-10T>C (n.4950-10T>C) c.4770-10T>C (n.4770-10T>C) c.5025-10T>C (n.5025-10T>C) c.5019-10T>C (n.5019-10T>C) c.4587-10T>C (n.4587-10T>C) c.4887-10T>C (n.4887-10T>C) n.5338-10T>C | dbSNP gnomAD v4 |
| 9 | g.104798610A>T | CA653224983 | ABCA1 | c.4944-12T>A (n.4944-12T>A) c.4950-12T>A (n.4950-12T>A) c.4770-12T>A (n.4770-12T>A) c.5025-12T>A (n.5025-12T>A) c.5019-12T>A (n.5019-12T>A) c.4587-12T>A (n.4587-12T>A) c.4887-12T>A (n.4887-12T>A) n.5338-12T>A | COSMIC |
| 9 | g.104798611A>G | CA2691050650 | ABCA1 | c.4944-13T>C (n.4944-13T>C) c.4950-13T>C (n.4950-13T>C) c.4770-13T>C (n.4770-13T>C) c.5025-13T>C (n.5025-13T>C) c.5019-13T>C (n.5019-13T>C) c.4587-13T>C (n.4587-13T>C) c.4887-13T>C (n.4887-13T>C) n.5338-13T>C | gnomAD v4 |
| 9 | g.104798612del | CA2691050651 | ABCA1 | c.4944-14del (n.4944-14del) c.4950-14del (n.4950-14del) c.4770-14del (n.4770-14del) c.5025-14del (n.5025-14del) c.5019-14del (n.5019-14del) c.4587-14del (n.4587-14del) c.4887-14del (n.4887-14del) n.5338-14del | gnomAD v4 |
| 9 | g.104798613C>A | CA197361947 | ABCA1 | c.4944-15G>T (n.4944-15G>T) c.4950-15G>T (n.4950-15G>T) c.4770-15G>T (n.4770-15G>T) c.5025-15G>T (n.5025-15G>T) c.5019-15G>T (n.5019-15G>T) c.4587-15G>T (n.4587-15G>T) c.4887-15G>T (n.4887-15G>T) n.5338-15G>T | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.104798613C= | CA1869916354 | ABCA1 | c.4944-15G= (n.4944-15G=) c.4950-15G= (n.4950-15G=) c.4770-15G= (n.4770-15G=) c.5025-15G= (n.5025-15G=) c.5019-15G= (n.5019-15G=) c.4587-15G= (n.4587-15G=) c.4887-15G= (n.4887-15G=) n.5338-15G= | |
| 9 | g.104798613C>G | CA5167970 | ABCA1 | c.4944-15G>C (n.4944-15G>C) c.4950-15G>C (n.4950-15G>C) c.4770-15G>C (n.4770-15G>C) c.5025-15G>C (n.5025-15G>C) c.5019-15G>C (n.5019-15G>C) c.4587-15G>C (n.4587-15G>C) c.4887-15G>C (n.4887-15G>C) n.5338-15G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.104798613C>T | CA5167969 | ABCA1 | c.4944-15G>A (n.4944-15G>A) c.4950-15G>A (n.4950-15G>A) c.4770-15G>A (n.4770-15G>A) c.5025-15G>A (n.5025-15G>A) c.5019-15G>A (n.5019-15G>A) c.4587-15G>A (n.4587-15G>A) c.4887-15G>A (n.4887-15G>A) n.5338-15G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.104798614G>A | CA5167971 | ABCA1 | c.4944-16C>T (n.4944-16C>T) c.4950-16C>T (n.4950-16C>T) c.4770-16C>T (n.4770-16C>T) c.5025-16C>T (n.5025-16C>T) c.5019-16C>T (n.5019-16C>T) c.4587-16C>T (n.4587-16C>T) c.4887-16C>T (n.4887-16C>T) n.5338-16C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.104798614G= | CA1869916366 | ABCA1 | c.4944-16C= (n.4944-16C=) c.4950-16C= (n.4950-16C=) c.4770-16C= (n.4770-16C=) c.5025-16C= (n.5025-16C=) c.5019-16C= (n.5019-16C=) c.4587-16C= (n.4587-16C=) c.4887-16C= (n.4887-16C=) n.5338-16C= | |
| 9 | g.104798614G>T | CA2516987687 | ABCA1 | c.4944-16C>A (n.4944-16C>A) c.4950-16C>A (n.4950-16C>A) c.4770-16C>A (n.4770-16C>A) c.5025-16C>A (n.5025-16C>A) c.5019-16C>A (n.5019-16C>A) c.4587-16C>A (n.4587-16C>A) c.4887-16C>A (n.4887-16C>A) n.5338-16C>A | gnomAD v4 |
| 9 | g.104798615T>A | CA858076951 | ABCA1 | c.4944-17A>T (n.4944-17A>T) c.4950-17A>T (n.4950-17A>T) c.4770-17A>T (n.4770-17A>T) c.5025-17A>T (n.5025-17A>T) c.5019-17A>T (n.5019-17A>T) c.4587-17A>T (n.4587-17A>T) c.4887-17A>T (n.4887-17A>T) n.5338-17A>T | dbSNP |
| 9 | g.104798615T= | CA1869916376 | ABCA1 | c.4944-17A= (n.4944-17A=) c.4950-17A= (n.4950-17A=) c.4770-17A= (n.4770-17A=) c.5025-17A= (n.5025-17A=) c.5019-17A= (n.5019-17A=) c.4587-17A= (n.4587-17A=) c.4887-17A= (n.4887-17A=) n.5338-17A= | |
| 9 | g.104798616G>A | CA2580079290 | ABCA1 | c.4944-18C>T (n.4944-18C>T) c.4950-18C>T (n.4950-18C>T) c.4770-18C>T (n.4770-18C>T) c.5025-18C>T (n.5025-18C>T) c.5019-18C>T (n.5019-18C>T) c.4587-18C>T (n.4587-18C>T) c.4887-18C>T (n.4887-18C>T) n.5338-18C>T | ClinVar |
| 9 | g.104798618G>A | CA2579406221 | ABCA1 | c.4944-20C>T (n.4944-20C>T) c.4950-20C>T (n.4950-20C>T) c.4770-20C>T (n.4770-20C>T) c.5025-20C>T (n.5025-20C>T) c.5019-20C>T (n.5019-20C>T) c.4587-20C>T (n.4587-20C>T) c.4887-20C>T (n.4887-20C>T) n.5338-20C>T | |
| 9 | g.104798618G>C | CA5167972 | ABCA1 | c.4944-20C>G (n.4944-20C>G) c.4950-20C>G (n.4950-20C>G) c.4770-20C>G (n.4770-20C>G) c.5025-20C>G (n.5025-20C>G) c.5019-20C>G (n.5019-20C>G) c.4587-20C>G (n.4587-20C>G) c.4887-20C>G (n.4887-20C>G) n.5338-20C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.104798618G= | CA1869916389 | ABCA1 | c.4944-20C= (n.4944-20C=) c.4950-20C= (n.4950-20C=) c.4770-20C= (n.4770-20C=) c.5025-20C= (n.5025-20C=) c.5019-20C= (n.5019-20C=) c.4587-20C= (n.4587-20C=) c.4887-20C= (n.4887-20C=) n.5338-20C= | |
| 9 | g.104798618G>T | CA2691050655 | ABCA1 | c.4944-20C>A (n.4944-20C>A) c.4950-20C>A (n.4950-20C>A) c.4770-20C>A (n.4770-20C>A) c.5025-20C>A (n.5025-20C>A) c.5019-20C>A (n.5019-20C>A) c.4587-20C>A (n.4587-20C>A) c.4887-20C>A (n.4887-20C>A) n.5338-20C>A | gnomAD v4 |
| 9 | g.104798620A= | CA1869916397 | ABCA1 | c.4944-22T= (n.4944-22T=) c.4950-22T= (n.4950-22T=) c.4770-22T= (n.4770-22T=) c.5025-22T= (n.5025-22T=) c.5019-22T= (n.5019-22T=) c.4587-22T= (n.4587-22T=) c.4887-22T= (n.4887-22T=) n.5338-22T= | |
| 9 | g.104798620A>G | CA858076954 | ABCA1 | c.4944-22T>C (n.4944-22T>C) c.4950-22T>C (n.4950-22T>C) c.4770-22T>C (n.4770-22T>C) c.5025-22T>C (n.5025-22T>C) c.5019-22T>C (n.5019-22T>C) c.4587-22T>C (n.4587-22T>C) c.4887-22T>C (n.4887-22T>C) n.5338-22T>C | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.104798621A= | CA1869916402 | ABCA1 | c.4944-23T= (n.4944-23T=) c.4950-23T= (n.4950-23T=) c.4770-23T= (n.4770-23T=) c.5025-23T= (n.5025-23T=) c.5019-23T= (n.5019-23T=) c.4587-23T= (n.4587-23T=) c.4887-23T= (n.4887-23T=) n.5338-23T= | |
| 9 | g.104798621A>G | CA5167973 | ABCA1 | c.4944-23T>C (n.4944-23T>C) c.4950-23T>C (n.4950-23T>C) c.4770-23T>C (n.4770-23T>C) c.5025-23T>C (n.5025-23T>C) c.5019-23T>C (n.5019-23T>C) c.4587-23T>C (n.4587-23T>C) c.4887-23T>C (n.4887-23T>C) n.5338-23T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.104798622A>G | CA653224989 | ABCA1 | c.4944-24T>C (n.4944-24T>C) c.4950-24T>C (n.4950-24T>C) c.4770-24T>C (n.4770-24T>C) c.5025-24T>C (n.5025-24T>C) c.5019-24T>C (n.5019-24T>C) c.4587-24T>C (n.4587-24T>C) c.4887-24T>C (n.4887-24T>C) n.5338-24T>C | COSMIC |
| 9 | g.104798622A>T | CA2691050658 | ABCA1 | c.4944-24T>A (n.4944-24T>A) c.4950-24T>A (n.4950-24T>A) c.4770-24T>A (n.4770-24T>A) c.5025-24T>A (n.5025-24T>A) c.5019-24T>A (n.5019-24T>A) c.4587-24T>A (n.4587-24T>A) c.4887-24T>A (n.4887-24T>A) n.5338-24T>A | gnomAD v4 |