Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.104798413_104798414del | CA2579406190 | ABCA1 | c.5121+10_5121+11del (n.5121+10_5121+11del) c.5127+10_5127+11del (n.5127+10_5127+11del) c.4947+10_4947+11del (n.4947+10_4947+11del) c.5202+10_5202+11del (n.5202+10_5202+11del) c.5196+10_5196+11del (n.5196+10_5196+11del) c.4764+10_4764+11del (n.4764+10_4764+11del) c.5064+10_5064+11del (n.5064+10_5064+11del) n.5515+10_5515+11del | |
9 | g.104798414T>C | CA2579406194 | ABCA1 | c.5121+7A>G (n.5121+7A>G) c.5127+7A>G (n.5127+7A>G) c.4947+7A>G (n.4947+7A>G) c.5202+7A>G (n.5202+7A>G) c.5196+7A>G (n.5196+7A>G) c.4764+7A>G (n.4764+7A>G) c.5064+7A>G (n.5064+7A>G) n.5515+7A>G | gnomAD v4 |
9 | g.104798416C>G | CA2691050496 | ABCA1 | c.5121+5G>C (n.5121+5G>C) c.5127+5G>C (n.5127+5G>C) c.4947+5G>C (n.4947+5G>C) c.5202+5G>C (n.5202+5G>C) c.5196+5G>C (n.5196+5G>C) c.4764+5G>C (n.4764+5G>C) c.5064+5G>C (n.5064+5G>C) n.5515+5G>C | gnomAD v4 |
9 | g.104798416C>T | CA2691050497 | ABCA1 | c.5121+5G>A (n.5121+5G>A) c.5127+5G>A (n.5127+5G>A) c.4947+5G>A (n.4947+5G>A) c.5202+5G>A (n.5202+5G>A) c.5196+5G>A (n.5196+5G>A) c.4764+5G>A (n.4764+5G>A) c.5064+5G>A (n.5064+5G>A) n.5515+5G>A | gnomAD v4 |
9 | g.104798417T>C | CA1869929829 | ABCA1 | c.5121+4A>G (n.5121+4A>G) c.5127+4A>G (n.5127+4A>G) c.4947+4A>G (n.4947+4A>G) c.5202+4A>G (n.5202+4A>G) c.5196+4A>G (n.5196+4A>G) c.4764+4A>G (n.4764+4A>G) c.5064+4A>G (n.5064+4A>G) n.5515+4A>G | dbSNP |
9 | g.104798417T= | CA1869929828 | ABCA1 | c.5121+4A= (n.5121+4A=) c.5127+4A= (n.5127+4A=) c.4947+4A= (n.4947+4A=) c.5202+4A= (n.5202+4A=) c.5196+4A= (n.5196+4A=) c.4764+4A= (n.4764+4A=) c.5064+4A= (n.5064+4A=) n.5515+4A= | |
9 | g.104798419A>C | CA374313897 | ABCA1 | c.5121+2T>G (n.5121+2T>G) c.5127+2T>G (n.5127+2T>G) c.4947+2T>G (n.4947+2T>G) c.5202+2T>G (n.5202+2T>G) c.5196+2T>G (n.5196+2T>G) c.4764+2T>G (n.4764+2T>G) c.5064+2T>G (n.5064+2T>G) n.5515+2T>G | |
9 | g.104798419A>G | CA374313898 | ABCA1 | c.5121+2T>C (n.5121+2T>C) c.5127+2T>C (n.5127+2T>C) c.4947+2T>C (n.4947+2T>C) c.5202+2T>C (n.5202+2T>C) c.5196+2T>C (n.5196+2T>C) c.4764+2T>C (n.4764+2T>C) c.5064+2T>C (n.5064+2T>C) n.5515+2T>C | COSMIC |
9 | g.104798419A>T | CA374313899 | ABCA1 | c.5121+2T>A (n.5121+2T>A) c.5127+2T>A (n.5127+2T>A) c.4947+2T>A (n.4947+2T>A) c.5202+2T>A (n.5202+2T>A) c.5196+2T>A (n.5196+2T>A) c.4764+2T>A (n.4764+2T>A) c.5064+2T>A (n.5064+2T>A) n.5515+2T>A | |
9 | g.104798420C>A | CA197361766 | ABCA1 | c.5121+1G>T (n.5121+1G>T) c.5127+1G>T (n.5127+1G>T) c.4947+1G>T (n.4947+1G>T) c.5202+1G>T (n.5202+1G>T) c.5196+1G>T (n.5196+1G>T) c.4764+1G>T (n.4764+1G>T) c.5064+1G>T (n.5064+1G>T) n.5515+1G>T | dbSNP gnomAD v2 gnomAD v4 |
9 | g.104798420C= | CA1869915707 | ABCA1 | c.5121+1G= (n.5121+1G=) c.5127+1G= (n.5127+1G=) c.4947+1G= (n.4947+1G=) c.5202+1G= (n.5202+1G=) c.5196+1G= (n.5196+1G=) c.4764+1G= (n.4764+1G=) c.5064+1G= (n.5064+1G=) n.5515+1G= | |
9 | g.104798420C>G | CA374313900 | ABCA1 | c.5121+1G>C (n.5121+1G>C) c.5127+1G>C (n.5127+1G>C) c.4947+1G>C (n.4947+1G>C) c.5202+1G>C (n.5202+1G>C) c.5196+1G>C (n.5196+1G>C) c.4764+1G>C (n.4764+1G>C) c.5064+1G>C (n.5064+1G>C) n.5515+1G>C | |
9 | g.104798420C>T | CA374313901 | ABCA1 | c.5121+1G>A (n.5121+1G>A) c.5127+1G>A (n.5127+1G>A) c.4947+1G>A (n.4947+1G>A) c.5202+1G>A (n.5202+1G>A) c.5196+1G>A (n.5196+1G>A) c.4764+1G>A (n.4764+1G>A) c.5064+1G>A (n.5064+1G>A) n.5515+1G>A | |
9 | g.104798421C>A | CA374313902 | ABCA1 | c.5121G>T (p.Met1707Ile) c.5127G>T (p.Met1709Ile) c.4947G>T (p.Met1649Ile) c.5202G>T (p.Met1734Ile) c.5196G>T (p.Met1732Ile) c.4764G>T (p.Met1588Ile) c.5064G>T (p.Met1688Ile) n.5515G>T | COSMIC |
9 | g.104798421C>G | CA374313903 | ABCA1 | c.5121G>C (p.Met1707Ile) c.5127G>C (p.Met1709Ile) c.4947G>C (p.Met1649Ile) c.5202G>C (p.Met1734Ile) c.5196G>C (p.Met1732Ile) c.4764G>C (p.Met1588Ile) c.5064G>C (p.Met1688Ile) n.5515G>C | |
9 | g.104798421C>T | CA374313904 | ABCA1 | c.5121G>A (p.Met1707Ile) c.5127G>A (p.Met1709Ile) c.4947G>A (p.Met1649Ile) c.5202G>A (p.Met1734Ile) c.5196G>A (p.Met1732Ile) c.4764G>A (p.Met1588Ile) c.5064G>A (p.Met1688Ile) n.5515G>A | gnomAD v4 |
9 | g.104798422A>C | CA374313905 | ABCA1 | c.5120T>G (p.Met1707Arg) c.5126T>G (p.Met1709Arg) c.4946T>G (p.Met1649Arg) c.5201T>G (p.Met1734Arg) c.5195T>G (p.Met1732Arg) c.4763T>G (p.Met1588Arg) c.5063T>G (p.Met1688Arg) n.5514T>G | |
9 | g.104798422A>G | CA374313906 | ABCA1 | c.5120T>C (p.Met1707Thr) c.5126T>C (p.Met1709Thr) c.4946T>C (p.Met1649Thr) c.5201T>C (p.Met1734Thr) c.5195T>C (p.Met1732Thr) c.4763T>C (p.Met1588Thr) c.5063T>C (p.Met1688Thr) n.5514T>C | |
9 | g.104798422A>T | CA374313907 | ABCA1 | c.5120T>A (p.Met1707Lys) c.5126T>A (p.Met1709Lys) c.4946T>A (p.Met1649Lys) c.5201T>A (p.Met1734Lys) c.5195T>A (p.Met1732Lys) c.4763T>A (p.Met1588Lys) c.5063T>A (p.Met1688Lys) n.5514T>A | |
9 | g.104798423T>A | CA374313908 | ABCA1 | c.5119A>T (p.Met1707Leu) c.5125A>T (p.Met1709Leu) c.4945A>T (p.Met1649Leu) c.5200A>T (p.Met1734Leu) c.5194A>T (p.Met1732Leu) c.4762A>T (p.Met1588Leu) c.5062A>T (p.Met1688Leu) n.5513A>T | |
9 | g.104798423T>C | CA5167941 | ABCA1 | c.5119A>G (p.Met1707Val) c.5125A>G (p.Met1709Val) c.4945A>G (p.Met1649Val) c.5200A>G (p.Met1734Val) c.5194A>G (p.Met1732Val) c.4762A>G (p.Met1588Val) c.5062A>G (p.Met1688Val) n.5513A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.104798423T>G | CA374313909 | ABCA1 | c.5119A>C (p.Met1707Leu) c.5125A>C (p.Met1709Leu) c.4945A>C (p.Met1649Leu) c.5200A>C (p.Met1734Leu) c.5194A>C (p.Met1732Leu) c.4762A>C (p.Met1588Leu) c.5062A>C (p.Met1688Leu) n.5513A>C | |
9 | g.104798423T= | CA1869915718 | ABCA1 | c.5119A= (p.Met1707=) c.5125A= (p.Met1709=) c.4945A= (p.Met1649=) c.5200A= (p.Met1734=) c.5194A= (p.Met1732=) c.4762A= (p.Met1588=) c.5062A= (p.Met1688=) n.5513A= | |
9 | g.104798424A>C | CA374313910 | ABCA1 | c.5118T>G (p.Asp1706Glu) c.5124T>G (p.Asp1708Glu) c.4944T>G (p.Asp1648Glu) c.5199T>G (p.Asp1733Glu) c.5193T>G (p.Asp1731Glu) c.4761T>G (p.Asp1587Glu) c.5061T>G (p.Asp1687Glu) n.5512T>G | |
9 | g.104798424A>G | CA466503088 | ABCA1 | c.5118T>C (p.Asp1706=) c.5124T>C (p.Asp1708=) c.4944T>C (p.Asp1648=) c.5199T>C (p.Asp1733=) c.5193T>C (p.Asp1731=) c.4761T>C (p.Asp1587=) c.5061T>C (p.Asp1687=) n.5512T>C | |
9 | g.104798424A>T | CA374313911 | ABCA1 | c.5118T>A (p.Asp1706Glu) c.5124T>A (p.Asp1708Glu) c.4944T>A (p.Asp1648Glu) c.5199T>A (p.Asp1733Glu) c.5193T>A (p.Asp1731Glu) c.4761T>A (p.Asp1587Glu) c.5061T>A (p.Asp1687Glu) n.5512T>A | |
9 | g.104798425T>A | CA374313912 | ABCA1 | c.5117A>T (p.Asp1706Val) c.5123A>T (p.Asp1708Val) c.4943A>T (p.Asp1648Val) c.5198A>T (p.Asp1733Val) c.5192A>T (p.Asp1731Val) c.4760A>T (p.Asp1587Val) c.5060A>T (p.Asp1687Val) n.5511A>T | |
9 | g.104798425T>C | CA374313913 | ABCA1 | c.5117A>G (p.Asp1706Gly) c.5123A>G (p.Asp1708Gly) c.4943A>G (p.Asp1648Gly) c.5198A>G (p.Asp1733Gly) c.5192A>G (p.Asp1731Gly) c.4760A>G (p.Asp1587Gly) c.5060A>G (p.Asp1687Gly) n.5511A>G | dbSNP gnomAD v3 gnomAD v4 |
9 | g.104798425T>G | CA374313914 | ABCA1 | c.5117A>C (p.Asp1706Ala) c.5123A>C (p.Asp1708Ala) c.4943A>C (p.Asp1648Ala) c.5198A>C (p.Asp1733Ala) c.5192A>C (p.Asp1731Ala) c.4760A>C (p.Asp1587Ala) c.5060A>C (p.Asp1687Ala) n.5511A>C | gnomAD v4 |
9 | g.104798425T= | CA1869915722 | ABCA1 | c.5117A= (p.Asp1706=) c.5123A= (p.Asp1708=) c.4943A= (p.Asp1648=) c.5198A= (p.Asp1733=) c.5192A= (p.Asp1731=) c.4760A= (p.Asp1587=) c.5060A= (p.Asp1687=) n.5511A= | |
9 | g.104798426C>A | CA374313915 | ABCA1 | c.5116G>T (p.Asp1706Tyr) c.5122G>T (p.Asp1708Tyr) c.4942G>T (p.Asp1648Tyr) c.5197G>T (p.Asp1733Tyr) c.5191G>T (p.Asp1731Tyr) c.4759G>T (p.Asp1587Tyr) c.5059G>T (p.Asp1687Tyr) n.5510G>T | |
9 | g.104798426C>G | CA374313916 | ABCA1 | c.5116G>C (p.Asp1706His) c.5122G>C (p.Asp1708His) c.4942G>C (p.Asp1648His) c.5197G>C (p.Asp1733His) c.5191G>C (p.Asp1731His) c.4759G>C (p.Asp1587His) c.5059G>C (p.Asp1687His) n.5510G>C | |
9 | g.104798426C>T | CA374313917 | ABCA1 | c.5116G>A (p.Asp1706Asn) c.5122G>A (p.Asp1708Asn) c.4942G>A (p.Asp1648Asn) c.5197G>A (p.Asp1733Asn) c.5191G>A (p.Asp1731Asn) c.4759G>A (p.Asp1587Asn) c.5059G>A (p.Asp1687Asn) n.5510G>A | |
9 | g.104798427_104798428del | CA2785407105 | ABCA1 | c.5115_5116del (p.Trp1705Ter) c.5121_5122del (p.Trp1707Ter) c.4941_4942del (p.Trp1647Ter) c.5196_5197del (p.Trp1732Ter) c.5190_5191del (p.Trp1730Ter) c.4758_4759del (p.Trp1586Ter) c.5058_5059del (p.Trp1686Ter) n.5509_5510del | |
9 | g.104798427C>A | CA374313918 | ABCA1 | c.5115G>T (p.Trp1705Cys) c.5121G>T (p.Trp1707Cys) c.4941G>T (p.Trp1647Cys) c.5196G>T (p.Trp1732Cys) c.5190G>T (p.Trp1730Cys) c.4758G>T (p.Trp1586Cys) c.5058G>T (p.Trp1686Cys) n.5509G>T | |
9 | g.104798427C>G | CA374313919 | ABCA1 | c.5115G>C (p.Trp1705Cys) c.5121G>C (p.Trp1707Cys) c.4941G>C (p.Trp1647Cys) c.5196G>C (p.Trp1732Cys) c.5190G>C (p.Trp1730Cys) c.4758G>C (p.Trp1586Cys) c.5058G>C (p.Trp1686Cys) n.5509G>C | |
9 | g.104798427C>T | CA374313920 | ABCA1 | c.5115G>A (p.Trp1705Ter) c.5121G>A (p.Trp1707Ter) c.4941G>A (p.Trp1647Ter) c.5196G>A (p.Trp1732Ter) c.5190G>A (p.Trp1730Ter) c.4758G>A (p.Trp1586Ter) c.5058G>A (p.Trp1686Ter) n.5509G>A | |
9 | g.104798428C>A | CA374313923 | ABCA1 | c.5114G>T (p.Trp1705Leu) c.5120G>T (p.Trp1707Leu) c.4940G>T (p.Trp1647Leu) c.5195G>T (p.Trp1732Leu) c.5189G>T (p.Trp1730Leu) c.4757G>T (p.Trp1586Leu) c.5057G>T (p.Trp1686Leu) n.5508G>T | |
9 | g.104798428C>G | CA374313922 | ABCA1 | c.5114G>C (p.Trp1705Ser) c.5120G>C (p.Trp1707Ser) c.4940G>C (p.Trp1647Ser) c.5195G>C (p.Trp1732Ser) c.5189G>C (p.Trp1730Ser) c.4757G>C (p.Trp1586Ser) c.5057G>C (p.Trp1686Ser) n.5508G>C | |
9 | g.104798428C>T | CA374313921 | ABCA1 | c.5114G>A (p.Trp1705Ter) c.5120G>A (p.Trp1707Ter) c.4940G>A (p.Trp1647Ter) c.5195G>A (p.Trp1732Ter) c.5189G>A (p.Trp1730Ter) c.4757G>A (p.Trp1586Ter) c.5057G>A (p.Trp1686Ter) n.5508G>A | |
9 | g.104798429A= | CA1869915725 | ABCA1 | c.5113T= (p.Trp1705=) c.5119T= (p.Trp1707=) c.4939T= (p.Trp1647=) c.5194T= (p.Trp1732=) c.5188T= (p.Trp1730=) c.4756T= (p.Trp1586=) c.5056T= (p.Trp1686=) n.5507T= | |
9 | g.104798429A>C | CA374313924 | ABCA1 | c.5113T>G (p.Trp1705Gly) c.5119T>G (p.Trp1707Gly) c.4939T>G (p.Trp1647Gly) c.5194T>G (p.Trp1732Gly) c.5188T>G (p.Trp1730Gly) c.4756T>G (p.Trp1586Gly) c.5056T>G (p.Trp1686Gly) n.5507T>G | |
9 | g.104798429A>G | CA374313925 | ABCA1 | c.5113T>C (p.Trp1705Arg) c.5119T>C (p.Trp1707Arg) c.4939T>C (p.Trp1647Arg) c.5194T>C (p.Trp1732Arg) c.5188T>C (p.Trp1730Arg) c.4756T>C (p.Trp1586Arg) c.5056T>C (p.Trp1686Arg) n.5507T>C | |
9 | g.104798429A>T | CA374313926 | ABCA1 | c.5113T>A (p.Trp1705Arg) c.5119T>A (p.Trp1707Arg) c.4939T>A (p.Trp1647Arg) c.5194T>A (p.Trp1732Arg) c.5188T>A (p.Trp1730Arg) c.4756T>A (p.Trp1586Arg) c.5056T>A (p.Trp1686Arg) n.5507T>A | dbSNP gnomAD v2 gnomAD v4 |
9 | g.104798430G>A | CA466503089 | ABCA1 | c.5112C>T (p.Val1704=) c.5118C>T (p.Val1706=) c.4938C>T (p.Val1646=) c.5193C>T (p.Val1731=) c.5187C>T (p.Val1729=) c.4755C>T (p.Val1585=) c.5055C>T (p.Val1685=) n.5506C>T | |
9 | g.104798430G>C | CA466503090 | ABCA1 | c.5112C>G (p.Val1704=) c.5118C>G (p.Val1706=) c.4938C>G (p.Val1646=) c.5193C>G (p.Val1731=) c.5187C>G (p.Val1729=) c.4755C>G (p.Val1585=) c.5055C>G (p.Val1685=) n.5506C>G | |
9 | g.104798430G>T | CA466503091 | ABCA1 | c.5112C>A (p.Val1704=) c.5118C>A (p.Val1706=) c.4938C>A (p.Val1646=) c.5193C>A (p.Val1731=) c.5187C>A (p.Val1729=) c.4755C>A (p.Val1585=) c.5055C>A (p.Val1685=) n.5506C>A | |
9 | g.104798431A= | CA1869915733 | ABCA1 | c.5111T= (p.Val1704=) c.5117T= (p.Val1706=) c.4937T= (p.Val1646=) c.5192T= (p.Val1731=) c.5186T= (p.Val1729=) c.4754T= (p.Val1585=) c.5054T= (p.Val1685=) n.5505T= | |
9 | g.104798431A>C | CA374313927 | ABCA1 | c.5111T>G (p.Val1704Gly) c.5117T>G (p.Val1706Gly) c.4937T>G (p.Val1646Gly) c.5192T>G (p.Val1731Gly) c.5186T>G (p.Val1729Gly) c.4754T>G (p.Val1585Gly) c.5054T>G (p.Val1685Gly) n.5505T>G | dbSNP gnomAD v2 gnomAD v4 |
9 | g.104798431A>G | CA374313928 | ABCA1 | c.5111T>C (p.Val1704Ala) c.5117T>C (p.Val1706Ala) c.4937T>C (p.Val1646Ala) c.5192T>C (p.Val1731Ala) c.5186T>C (p.Val1729Ala) c.4754T>C (p.Val1585Ala) c.5054T>C (p.Val1685Ala) n.5505T>C |