Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.23876357A= | CA2290312347 | LAMA3 | c.235A= (p.Asn79=) c.5062A= (p.Asn1688=) c.1954A= (p.Asn652=) c.5089A= (p.Asn1697=) c.5080A= (p.Asn1694=) c.5071A= (p.Asn1691=) c.4957A= (p.Asn1653=) c.2941A= (p.Asn981=) c.631A= (p.Asn211=) n.5330A= | |
18 | g.23876357A>C | CA402044981 | LAMA3 | c.235A>C (p.Asn79His) c.5062A>C (p.Asn1688His) c.1954A>C (p.Asn652His) c.5089A>C (p.Asn1697His) c.5080A>C (p.Asn1694His) c.5071A>C (p.Asn1691His) c.4957A>C (p.Asn1653His) c.2941A>C (p.Asn981His) c.631A>C (p.Asn211His) n.5330A>C | |
18 | g.23876357A>G | CA402044982 | LAMA3 | c.235A>G (p.Asn79Asp) c.5062A>G (p.Asn1688Asp) c.1954A>G (p.Asn652Asp) c.5089A>G (p.Asn1697Asp) c.5080A>G (p.Asn1694Asp) c.5071A>G (p.Asn1691Asp) c.4957A>G (p.Asn1653Asp) c.2941A>G (p.Asn981Asp) c.631A>G (p.Asn211Asp) n.5330A>G | dbSNP gnomAD v3 gnomAD v4 |
18 | g.23876357A>T | CA402044983 | LAMA3 | c.235A>T (p.Asn79Tyr) c.5062A>T (p.Asn1688Tyr) c.1954A>T (p.Asn652Tyr) c.5089A>T (p.Asn1697Tyr) c.5080A>T (p.Asn1694Tyr) c.5071A>T (p.Asn1691Tyr) c.4957A>T (p.Asn1653Tyr) c.2941A>T (p.Asn981Tyr) c.631A>T (p.Asn211Tyr) n.5330A>T | |
18 | g.23876358A= | CA2290312348 | LAMA3 | c.236A= (p.Asn79=) c.5063A= (p.Asn1688=) c.1955A= (p.Asn652=) c.5090A= (p.Asn1697=) c.5081A= (p.Asn1694=) c.5072A= (p.Asn1691=) c.4958A= (p.Asn1653=) c.2942A= (p.Asn981=) c.632A= (p.Asn211=) n.5331A= | |
18 | g.23876358A>C | CA402044984 | LAMA3 | c.236A>C (p.Asn79Thr) c.5063A>C (p.Asn1688Thr) c.1955A>C (p.Asn652Thr) c.5090A>C (p.Asn1697Thr) c.5081A>C (p.Asn1694Thr) c.5072A>C (p.Asn1691Thr) c.4958A>C (p.Asn1653Thr) c.2942A>C (p.Asn981Thr) c.632A>C (p.Asn211Thr) n.5331A>C | |
18 | g.23876358A>G | CA8915876 | LAMA3 | c.236A>G (p.Asn79Ser) c.5063A>G (p.Asn1688Ser) c.1955A>G (p.Asn652Ser) c.5090A>G (p.Asn1697Ser) c.5081A>G (p.Asn1694Ser) c.5072A>G (p.Asn1691Ser) c.4958A>G (p.Asn1653Ser) c.2942A>G (p.Asn981Ser) c.632A>G (p.Asn211Ser) n.5331A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23876358A>T | CA8915877 | LAMA3 | c.236A>T (p.Asn79Ile) c.5063A>T (p.Asn1688Ile) c.1955A>T (p.Asn652Ile) c.5090A>T (p.Asn1697Ile) c.5081A>T (p.Asn1694Ile) c.5072A>T (p.Asn1691Ile) c.4958A>T (p.Asn1653Ile) c.2942A>T (p.Asn981Ile) c.632A>T (p.Asn211Ile) n.5331A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23876359T>A | CA402044985 | LAMA3 | c.237T>A (p.Asn79Lys) c.5064T>A (p.Asn1688Lys) c.1956T>A (p.Asn652Lys) c.5091T>A (p.Asn1697Lys) c.5082T>A (p.Asn1694Lys) c.5073T>A (p.Asn1691Lys) c.4959T>A (p.Asn1653Lys) c.2943T>A (p.Asn981Lys) c.633T>A (p.Asn211Lys) n.5332T>A | |
18 | g.23876359T>C | CA503327898 | LAMA3 | c.237T>C (p.Asn79=) c.5064T>C (p.Asn1688=) c.1956T>C (p.Asn652=) c.5091T>C (p.Asn1697=) c.5082T>C (p.Asn1694=) c.5073T>C (p.Asn1691=) c.4959T>C (p.Asn1653=) c.2943T>C (p.Asn981=) c.633T>C (p.Asn211=) n.5332T>C | |
18 | g.23876359T>G | CA402044986 | LAMA3 | c.237T>G (p.Asn79Lys) c.5064T>G (p.Asn1688Lys) c.1956T>G (p.Asn652Lys) c.5091T>G (p.Asn1697Lys) c.5082T>G (p.Asn1694Lys) c.5073T>G (p.Asn1691Lys) c.4959T>G (p.Asn1653Lys) c.2943T>G (p.Asn981Lys) c.633T>G (p.Asn211Lys) n.5332T>G | |
18 | g.23876360T>A | CA402044987 | LAMA3 | c.238T>A (p.Cys80Ser) c.5065T>A (p.Cys1689Ser) c.1957T>A (p.Cys653Ser) c.5092T>A (p.Cys1698Ser) c.5083T>A (p.Cys1695Ser) c.5074T>A (p.Cys1692Ser) c.4960T>A (p.Cys1654Ser) c.2944T>A (p.Cys982Ser) c.634T>A (p.Cys212Ser) n.5333T>A | |
18 | g.23876360T>C | CA402044988 | LAMA3 | c.238T>C (p.Cys80Arg) c.5065T>C (p.Cys1689Arg) c.1957T>C (p.Cys653Arg) c.5092T>C (p.Cys1698Arg) c.5083T>C (p.Cys1695Arg) c.5074T>C (p.Cys1692Arg) c.4960T>C (p.Cys1654Arg) c.2944T>C (p.Cys982Arg) c.634T>C (p.Cys212Arg) n.5333T>C | |
18 | g.23876360T>G | CA402044989 | LAMA3 | c.238T>G (p.Cys80Gly) c.5065T>G (p.Cys1689Gly) c.1957T>G (p.Cys653Gly) c.5092T>G (p.Cys1698Gly) c.5083T>G (p.Cys1695Gly) c.5074T>G (p.Cys1692Gly) c.4960T>G (p.Cys1654Gly) c.2944T>G (p.Cys982Gly) c.634T>G (p.Cys212Gly) n.5333T>G | |
18 | g.23876361G>A | CA8915878 | LAMA3 | c.239G>A (p.Cys80Tyr) c.5066G>A (p.Cys1689Tyr) c.1958G>A (p.Cys653Tyr) c.5093G>A (p.Cys1698Tyr) c.5084G>A (p.Cys1695Tyr) c.5075G>A (p.Cys1692Tyr) c.4961G>A (p.Cys1654Tyr) c.2945G>A (p.Cys982Tyr) c.635G>A (p.Cys212Tyr) n.5334G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
18 | g.23876361G>C | CA402044990 | LAMA3 | c.239G>C (p.Cys80Ser) c.5066G>C (p.Cys1689Ser) c.1958G>C (p.Cys653Ser) c.5093G>C (p.Cys1698Ser) c.5084G>C (p.Cys1695Ser) c.5075G>C (p.Cys1692Ser) c.4961G>C (p.Cys1654Ser) c.2945G>C (p.Cys982Ser) c.635G>C (p.Cys212Ser) n.5334G>C | gnomAD v4 |
18 | g.23876361G= | CA2290312349 | LAMA3 | c.239G= (p.Cys80=) c.5066G= (p.Cys1689=) c.1958G= (p.Cys653=) c.5093G= (p.Cys1698=) c.5084G= (p.Cys1695=) c.5075G= (p.Cys1692=) c.4961G= (p.Cys1654=) c.2945G= (p.Cys982=) c.635G= (p.Cys212=) n.5334G= | |
18 | g.23876361G>T | CA402044991 | LAMA3 | c.239G>T (p.Cys80Phe) c.5066G>T (p.Cys1689Phe) c.1958G>T (p.Cys653Phe) c.5093G>T (p.Cys1698Phe) c.5084G>T (p.Cys1695Phe) c.5075G>T (p.Cys1692Phe) c.4961G>T (p.Cys1654Phe) c.2945G>T (p.Cys982Phe) c.635G>T (p.Cys212Phe) n.5334G>T | |
18 | g.23876362C>A | CA402044992 | LAMA3 | c.240C>A (p.Cys80Ter) c.5067C>A (p.Cys1689Ter) c.1959C>A (p.Cys653Ter) c.5094C>A (p.Cys1698Ter) c.5085C>A (p.Cys1695Ter) c.5076C>A (p.Cys1692Ter) c.4962C>A (p.Cys1654Ter) c.2946C>A (p.Cys982Ter) c.636C>A (p.Cys212Ter) n.5335C>A | |
18 | g.23876362C>G | CA402044993 | LAMA3 | c.240C>G (p.Cys80Trp) c.5067C>G (p.Cys1689Trp) c.1959C>G (p.Cys653Trp) c.5094C>G (p.Cys1698Trp) c.5085C>G (p.Cys1695Trp) c.5076C>G (p.Cys1692Trp) c.4962C>G (p.Cys1654Trp) c.2946C>G (p.Cys982Trp) c.636C>G (p.Cys212Trp) n.5335C>G | |
18 | g.23876362C>T | CA503327902 | LAMA3 | c.240C>T (p.Cys80=) c.5067C>T (p.Cys1689=) c.1959C>T (p.Cys653=) c.5094C>T (p.Cys1698=) c.5085C>T (p.Cys1695=) c.5076C>T (p.Cys1692=) c.4962C>T (p.Cys1654=) c.2946C>T (p.Cys982=) c.636C>T (p.Cys212=) n.5335C>T | |
18 | g.23876363A>C | CA402044994 | LAMA3 | c.241A>C (p.Asn81His) c.5068A>C (p.Asn1690His) c.1960A>C (p.Asn654His) c.5095A>C (p.Asn1699His) c.5086A>C (p.Asn1696His) c.5077A>C (p.Asn1693His) c.4963A>C (p.Asn1655His) c.2947A>C (p.Asn983His) c.637A>C (p.Asn213His) n.5336A>C | |
18 | g.23876363A>G | CA402044995 | LAMA3 | c.241A>G (p.Asn81Asp) c.5068A>G (p.Asn1690Asp) c.1960A>G (p.Asn654Asp) c.5095A>G (p.Asn1699Asp) c.5086A>G (p.Asn1696Asp) c.5077A>G (p.Asn1693Asp) c.4963A>G (p.Asn1655Asp) c.2947A>G (p.Asn983Asp) c.637A>G (p.Asn213Asp) n.5336A>G | |
18 | g.23876363A>T | CA402044996 | LAMA3 | c.241A>T (p.Asn81Tyr) c.5068A>T (p.Asn1690Tyr) c.1960A>T (p.Asn654Tyr) c.5095A>T (p.Asn1699Tyr) c.5086A>T (p.Asn1696Tyr) c.5077A>T (p.Asn1693Tyr) c.4963A>T (p.Asn1655Tyr) c.2947A>T (p.Asn983Tyr) c.637A>T (p.Asn213Tyr) n.5336A>T | |
18 | g.23876364A>C | CA402044999 | LAMA3 | c.242A>C (p.Asn81Thr) c.5069A>C (p.Asn1690Thr) c.1961A>C (p.Asn654Thr) c.5096A>C (p.Asn1699Thr) c.5087A>C (p.Asn1696Thr) c.5078A>C (p.Asn1693Thr) c.4964A>C (p.Asn1655Thr) c.2948A>C (p.Asn983Thr) c.638A>C (p.Asn213Thr) n.5337A>C | |
18 | g.23876364A>G | CA402044997 | LAMA3 | c.242A>G (p.Asn81Ser) c.5069A>G (p.Asn1690Ser) c.1961A>G (p.Asn654Ser) c.5096A>G (p.Asn1699Ser) c.5087A>G (p.Asn1696Ser) c.5078A>G (p.Asn1693Ser) c.4964A>G (p.Asn1655Ser) c.2948A>G (p.Asn983Ser) c.638A>G (p.Asn213Ser) n.5337A>G | |
18 | g.23876364A>T | CA402044998 | LAMA3 | c.242A>T (p.Asn81Ile) c.5069A>T (p.Asn1690Ile) c.1961A>T (p.Asn654Ile) c.5096A>T (p.Asn1699Ile) c.5087A>T (p.Asn1696Ile) c.5078A>T (p.Asn1693Ile) c.4964A>T (p.Asn1655Ile) c.2948A>T (p.Asn983Ile) c.638A>T (p.Asn213Ile) n.5337A>T | |
18 | g.23876365C>A | CA402045000 | LAMA3 | c.243C>A (p.Asn81Lys) c.5070C>A (p.Asn1690Lys) c.1962C>A (p.Asn654Lys) c.5097C>A (p.Asn1699Lys) c.5088C>A (p.Asn1696Lys) c.5079C>A (p.Asn1693Lys) c.4965C>A (p.Asn1655Lys) c.2949C>A (p.Asn983Lys) c.639C>A (p.Asn213Lys) n.5338C>A | |
18 | g.23876365C= | CA2290312350 | LAMA3 | c.243C= (p.Asn81=) c.5070C= (p.Asn1690=) c.1962C= (p.Asn654=) c.5097C= (p.Asn1699=) c.5088C= (p.Asn1696=) c.5079C= (p.Asn1693=) c.4965C= (p.Asn1655=) c.2949C= (p.Asn983=) c.639C= (p.Asn213=) n.5338C= | |
18 | g.23876365C>G | CA402045001 | LAMA3 | c.243C>G (p.Asn81Lys) c.5070C>G (p.Asn1690Lys) c.1962C>G (p.Asn654Lys) c.5097C>G (p.Asn1699Lys) c.5088C>G (p.Asn1696Lys) c.5079C>G (p.Asn1693Lys) c.4965C>G (p.Asn1655Lys) c.2949C>G (p.Asn983Lys) c.639C>G (p.Asn213Lys) n.5338C>G | |
18 | g.23876365C>T | CA8915879 | LAMA3 | c.243C>T (p.Asn81=) c.5070C>T (p.Asn1690=) c.1962C>T (p.Asn654=) c.5097C>T (p.Asn1699=) c.5088C>T (p.Asn1696=) c.5079C>T (p.Asn1693=) c.4965C>T (p.Asn1655=) c.2949C>T (p.Asn983=) c.639C>T (p.Asn213=) n.5338C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23876366G>A | CA402045002 | LAMA3 | c.244G>A (p.Gly82Arg) c.5071G>A (p.Gly1691Arg) c.1963G>A (p.Gly655Arg) c.5098G>A (p.Gly1700Arg) c.5089G>A (p.Gly1697Arg) c.5080G>A (p.Gly1694Arg) c.4966G>A (p.Gly1656Arg) c.2950G>A (p.Gly984Arg) c.640G>A (p.Gly214Arg) n.5339G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
18 | g.23876366G>C | CA402045003 | LAMA3 | c.244G>C (p.Gly82Arg) c.5071G>C (p.Gly1691Arg) c.1963G>C (p.Gly655Arg) c.5098G>C (p.Gly1700Arg) c.5089G>C (p.Gly1697Arg) c.5080G>C (p.Gly1694Arg) c.4966G>C (p.Gly1656Arg) c.2950G>C (p.Gly984Arg) c.640G>C (p.Gly214Arg) n.5339G>C | |
18 | g.23876366G= | CA2290312351 | LAMA3 | c.244G= (p.Gly82=) c.5071G= (p.Gly1691=) c.1963G= (p.Gly655=) c.5098G= (p.Gly1700=) c.5089G= (p.Gly1697=) c.5080G= (p.Gly1694=) c.4966G= (p.Gly1656=) c.2950G= (p.Gly984=) c.640G= (p.Gly214=) n.5339G= | |
18 | g.23876366G>T | CA402045004 | LAMA3 | c.244G>T (p.Gly82Ter) c.5071G>T (p.Gly1691Ter) c.1963G>T (p.Gly655Ter) c.5098G>T (p.Gly1700Ter) c.5089G>T (p.Gly1697Ter) c.5080G>T (p.Gly1694Ter) c.4966G>T (p.Gly1656Ter) c.2950G>T (p.Gly984Ter) c.640G>T (p.Gly214Ter) n.5339G>T | |
18 | g.23876367_23876368insGGG | CA658824968 | LAMA3 | c.245_246insGGG (p.Gly82_His83insGly) c.5072_5073insGGG (p.Gly1691_His1692insGly) c.1964_1965insGGG (p.Gly655_His656insGly) c.5099_5100insGGG (p.Gly1700_His1701insGly) c.5090_5091insGGG (p.Gly1697_His1698insGly) c.5081_5082insGGG (p.Gly1694_His1695insGly) c.4967_4968insGGG (p.Gly1656_His1657insGly) c.2951_2952insGGG (p.Gly984_His985insGly) c.641_642insGGG (p.Gly214_His215insGly) n.5340_5341insGGG | ClinVar dbSNP |
18 | g.23876367G>A | CA402045005 | LAMA3 | c.245G>A (p.Gly82Glu) c.5072G>A (p.Gly1691Glu) c.1964G>A (p.Gly655Glu) c.5099G>A (p.Gly1700Glu) c.5090G>A (p.Gly1697Glu) c.5081G>A (p.Gly1694Glu) c.4967G>A (p.Gly1656Glu) c.2951G>A (p.Gly984Glu) c.641G>A (p.Gly214Glu) n.5340G>A | |
18 | g.23876367G>C | CA402045006 | LAMA3 | c.245G>C (p.Gly82Ala) c.5072G>C (p.Gly1691Ala) c.1964G>C (p.Gly655Ala) c.5099G>C (p.Gly1700Ala) c.5090G>C (p.Gly1697Ala) c.5081G>C (p.Gly1694Ala) c.4967G>C (p.Gly1656Ala) c.2951G>C (p.Gly984Ala) c.641G>C (p.Gly214Ala) n.5340G>C | |
18 | g.23876367G>T | CA402045007 | LAMA3 | c.245G>T (p.Gly82Val) c.5072G>T (p.Gly1691Val) c.1964G>T (p.Gly655Val) c.5099G>T (p.Gly1700Val) c.5090G>T (p.Gly1697Val) c.5081G>T (p.Gly1694Val) c.4967G>T (p.Gly1656Val) c.2951G>T (p.Gly984Val) c.641G>T (p.Gly214Val) n.5340G>T | |
18 | g.23876368A>C | CA503327909 | LAMA3 | c.246A>C (p.Gly82=) c.5073A>C (p.Gly1691=) c.1965A>C (p.Gly655=) c.5100A>C (p.Gly1700=) c.5091A>C (p.Gly1697=) c.5082A>C (p.Gly1694=) c.4968A>C (p.Gly1656=) c.2952A>C (p.Gly984=) c.642A>C (p.Gly214=) n.5341A>C | ClinVar |
18 | g.23876368A>G | CA503327910 | LAMA3 | c.246A>G (p.Gly82=) c.5073A>G (p.Gly1691=) c.1965A>G (p.Gly655=) c.5100A>G (p.Gly1700=) c.5091A>G (p.Gly1697=) c.5082A>G (p.Gly1694=) c.4968A>G (p.Gly1656=) c.2952A>G (p.Gly984=) c.642A>G (p.Gly214=) n.5341A>G | gnomAD v4 |
18 | g.23876368A>T | CA503327911 | LAMA3 | c.246A>T (p.Gly82=) c.5073A>T (p.Gly1691=) c.1965A>T (p.Gly655=) c.5100A>T (p.Gly1700=) c.5091A>T (p.Gly1697=) c.5082A>T (p.Gly1694=) c.4968A>T (p.Gly1656=) c.2952A>T (p.Gly984=) c.642A>T (p.Gly214=) n.5341A>T | |
18 | g.23876369C>A | CA402045008 | LAMA3 | c.247C>A (p.His83Asn) c.5074C>A (p.His1692Asn) c.1966C>A (p.His656Asn) c.5101C>A (p.His1701Asn) c.5092C>A (p.His1698Asn) c.5083C>A (p.His1695Asn) c.4969C>A (p.His1657Asn) c.2953C>A (p.His985Asn) c.643C>A (p.His215Asn) n.5342C>A | gnomAD v4 |
18 | g.23876369C>G | CA402045009 | LAMA3 | c.247C>G (p.His83Asp) c.5074C>G (p.His1692Asp) c.1966C>G (p.His656Asp) c.5101C>G (p.His1701Asp) c.5092C>G (p.His1698Asp) c.5083C>G (p.His1695Asp) c.4969C>G (p.His1657Asp) c.2953C>G (p.His985Asp) c.643C>G (p.His215Asp) n.5342C>G | |
18 | g.23876369C>T | CA402045010 | LAMA3 | c.247C>T (p.His83Tyr) c.5074C>T (p.His1692Tyr) c.1966C>T (p.His656Tyr) c.5101C>T (p.His1701Tyr) c.5092C>T (p.His1698Tyr) c.5083C>T (p.His1695Tyr) c.4969C>T (p.His1657Tyr) c.2953C>T (p.His985Tyr) c.643C>T (p.His215Tyr) n.5342C>T | |
18 | g.23876370A= | CA2290312352 | LAMA3 | c.248A= (p.His83=) c.5075A= (p.His1692=) c.1967A= (p.His656=) c.5102A= (p.His1701=) c.5093A= (p.His1698=) c.5084A= (p.His1695=) c.4970A= (p.His1657=) c.2954A= (p.His985=) c.644A= (p.His215=) n.5343A= | |
18 | g.23876370A>C | CA402045011 | LAMA3 | c.248A>C (p.His83Pro) c.5075A>C (p.His1692Pro) c.1967A>C (p.His656Pro) c.5102A>C (p.His1701Pro) c.5093A>C (p.His1698Pro) c.5084A>C (p.His1695Pro) c.4970A>C (p.His1657Pro) c.2954A>C (p.His985Pro) c.644A>C (p.His215Pro) n.5343A>C | |
18 | g.23876370A>G | CA8915880 | LAMA3 | c.248A>G (p.His83Arg) c.5075A>G (p.His1692Arg) c.1967A>G (p.His656Arg) c.5102A>G (p.His1701Arg) c.5093A>G (p.His1698Arg) c.5084A>G (p.His1695Arg) c.4970A>G (p.His1657Arg) c.2954A>G (p.His985Arg) c.644A>G (p.His215Arg) n.5343A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23876370A>T | CA402045012 | LAMA3 | c.248A>T (p.His83Leu) c.5075A>T (p.His1692Leu) c.1967A>T (p.His656Leu) c.5102A>T (p.His1701Leu) c.5093A>T (p.His1698Leu) c.5084A>T (p.His1695Leu) c.4970A>T (p.His1657Leu) c.2954A>T (p.His985Leu) c.644A>T (p.His215Leu) n.5343A>T | |
18 | g.23876370_23876386del | CA2739268583 | LAMA3 | c.248_264del (p.His83ArgfsTer8) c.5075_5091del (p.His1692ArgfsTer8) c.1967_1983del (p.His656ArgfsTer8) c.5102_5118del (p.His1701ArgfsTer8) c.5093_5109del (p.His1698ArgfsTer8) c.5084_5100del (p.His1695ArgfsTer8) c.4970_4986del (p.His1657ArgfsTer8) c.2954_2970del (p.His985ArgfsTer8) c.644_660del (p.His215ArgfsTer8) n.5343_5359del | ClinVar |
18 | g.23876371T>A | CA402045013 | LAMA3 | c.249T>A (p.His83Gln) c.5076T>A (p.His1692Gln) c.1968T>A (p.His656Gln) c.5103T>A (p.His1701Gln) c.5094T>A (p.His1698Gln) c.5085T>A (p.His1695Gln) c.4971T>A (p.His1657Gln) c.2955T>A (p.His985Gln) c.645T>A (p.His215Gln) n.5344T>A | |
18 | g.23876371T>C | CA503327915 | LAMA3 | c.249T>C (p.His83=) c.5076T>C (p.His1692=) c.1968T>C (p.His656=) c.5103T>C (p.His1701=) c.5094T>C (p.His1698=) c.5085T>C (p.His1695=) c.4971T>C (p.His1657=) c.2955T>C (p.His985=) c.645T>C (p.His215=) n.5344T>C | |
18 | g.23876371T>G | CA402045014 | LAMA3 | c.249T>G (p.His83Gln) c.5076T>G (p.His1692Gln) c.1968T>G (p.His656Gln) c.5103T>G (p.His1701Gln) c.5094T>G (p.His1698Gln) c.5085T>G (p.His1695Gln) c.4971T>G (p.His1657Gln) c.2955T>G (p.His985Gln) c.645T>G (p.His215Gln) n.5344T>G | |
18 | g.23876372T>A | CA402045015 | LAMA3 | c.250T>A (p.Ser84Thr) c.5077T>A (p.Ser1693Thr) c.1969T>A (p.Ser657Thr) c.5104T>A (p.Ser1702Thr) c.5095T>A (p.Ser1699Thr) c.5086T>A (p.Ser1696Thr) c.4972T>A (p.Ser1658Thr) c.2956T>A (p.Ser986Thr) c.646T>A (p.Ser216Thr) n.5345T>A | |
18 | g.23876372T>C | CA402045016 | LAMA3 | c.250T>C (p.Ser84Pro) c.5077T>C (p.Ser1693Pro) c.1969T>C (p.Ser657Pro) c.5104T>C (p.Ser1702Pro) c.5095T>C (p.Ser1699Pro) c.5086T>C (p.Ser1696Pro) c.4972T>C (p.Ser1658Pro) c.2956T>C (p.Ser986Pro) c.646T>C (p.Ser216Pro) n.5345T>C | |
18 | g.23876372T>G | CA402045017 | LAMA3 | c.250T>G (p.Ser84Ala) c.5077T>G (p.Ser1693Ala) c.1969T>G (p.Ser657Ala) c.5104T>G (p.Ser1702Ala) c.5095T>G (p.Ser1699Ala) c.5086T>G (p.Ser1696Ala) c.4972T>G (p.Ser1658Ala) c.2956T>G (p.Ser986Ala) c.646T>G (p.Ser216Ala) n.5345T>G | |
18 | g.23876373C>A | CA402045018 | LAMA3 | c.251C>A (p.Ser84Ter) c.5078C>A (p.Ser1693Ter) c.1970C>A (p.Ser657Ter) c.5105C>A (p.Ser1702Ter) c.5096C>A (p.Ser1699Ter) c.5087C>A (p.Ser1696Ter) c.4973C>A (p.Ser1658Ter) c.2957C>A (p.Ser986Ter) c.647C>A (p.Ser216Ter) n.5346C>A | |
18 | g.23876373C= | CA2290312353 | LAMA3 | c.251C= (p.Ser84=) c.5078C= (p.Ser1693=) c.1970C= (p.Ser657=) c.5105C= (p.Ser1702=) c.5096C= (p.Ser1699=) c.5087C= (p.Ser1696=) c.4973C= (p.Ser1658=) c.2957C= (p.Ser986=) c.647C= (p.Ser216=) n.5346C= | |
18 | g.23876373C>G | CA402045019 | LAMA3 | c.251C>G (p.Ser84Ter) c.5078C>G (p.Ser1693Ter) c.1970C>G (p.Ser657Ter) c.5105C>G (p.Ser1702Ter) c.5096C>G (p.Ser1699Ter) c.5087C>G (p.Ser1696Ter) c.4973C>G (p.Ser1658Ter) c.2957C>G (p.Ser986Ter) c.647C>G (p.Ser216Ter) n.5346C>G | dbSNP gnomAD v4 |
18 | g.23876373C>T | CA402045020 | LAMA3 | c.251C>T (p.Ser84Leu) c.5078C>T (p.Ser1693Leu) c.1970C>T (p.Ser657Leu) c.5105C>T (p.Ser1702Leu) c.5096C>T (p.Ser1699Leu) c.5087C>T (p.Ser1696Leu) c.4973C>T (p.Ser1658Leu) c.2957C>T (p.Ser986Leu) c.647C>T (p.Ser216Leu) n.5346C>T | |
18 | g.23876374A= | CA2290312354 | LAMA3 | c.252A= (p.Ser84=) c.5079A= (p.Ser1693=) c.1971A= (p.Ser657=) c.5106A= (p.Ser1702=) c.5097A= (p.Ser1699=) c.5088A= (p.Ser1696=) c.4974A= (p.Ser1658=) c.2958A= (p.Ser986=) c.648A= (p.Ser216=) n.5347A= | |
18 | g.23876374A>C | CA503327917 | LAMA3 | c.252A>C (p.Ser84=) c.5079A>C (p.Ser1693=) c.1971A>C (p.Ser657=) c.5106A>C (p.Ser1702=) c.5097A>C (p.Ser1699=) c.5088A>C (p.Ser1696=) c.4974A>C (p.Ser1658=) c.2958A>C (p.Ser986=) c.648A>C (p.Ser216=) n.5347A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.23876374A>G | CA503327918 | LAMA3 | c.252A>G (p.Ser84=) c.5079A>G (p.Ser1693=) c.1971A>G (p.Ser657=) c.5106A>G (p.Ser1702=) c.5097A>G (p.Ser1699=) c.5088A>G (p.Ser1696=) c.4974A>G (p.Ser1658=) c.2958A>G (p.Ser986=) c.648A>G (p.Ser216=) n.5347A>G | |
18 | g.23876374A>T | CA503327919 | LAMA3 | c.252A>T (p.Ser84=) c.5079A>T (p.Ser1693=) c.1971A>T (p.Ser657=) c.5106A>T (p.Ser1702=) c.5097A>T (p.Ser1699=) c.5088A>T (p.Ser1696=) c.4974A>T (p.Ser1658=) c.2958A>T (p.Ser986=) c.648A>T (p.Ser216=) n.5347A>T | ClinVar dbSNP gnomAD v4 |
18 | g.23876375A= | CA2290312355 | LAMA3 | c.253A= (p.Asn85=) c.5080A= (p.Asn1694=) c.1972A= (p.Asn658=) c.5107A= (p.Asn1703=) c.5098A= (p.Asn1700=) c.5089A= (p.Asn1697=) c.4975A= (p.Asn1659=) c.2959A= (p.Asn987=) c.649A= (p.Asn217=) n.5348A= | |
18 | g.23876375A>C | CA402045021 | LAMA3 | c.253A>C (p.Asn85His) c.5080A>C (p.Asn1694His) c.1972A>C (p.Asn658His) c.5107A>C (p.Asn1703His) c.5098A>C (p.Asn1700His) c.5089A>C (p.Asn1697His) c.4975A>C (p.Asn1659His) c.2959A>C (p.Asn987His) c.649A>C (p.Asn217His) n.5348A>C | dbSNP |
18 | g.23876375A>G | CA8915881 | LAMA3 | c.253A>G (p.Asn85Asp) c.5080A>G (p.Asn1694Asp) c.1972A>G (p.Asn658Asp) c.5107A>G (p.Asn1703Asp) c.5098A>G (p.Asn1700Asp) c.5089A>G (p.Asn1697Asp) c.4975A>G (p.Asn1659Asp) c.2959A>G (p.Asn987Asp) c.649A>G (p.Asn217Asp) n.5348A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23876375A>T | CA402045022 | LAMA3 | c.253A>T (p.Asn85Tyr) c.5080A>T (p.Asn1694Tyr) c.1972A>T (p.Asn658Tyr) c.5107A>T (p.Asn1703Tyr) c.5098A>T (p.Asn1700Tyr) c.5089A>T (p.Asn1697Tyr) c.4975A>T (p.Asn1659Tyr) c.2959A>T (p.Asn987Tyr) c.649A>T (p.Asn217Tyr) n.5348A>T | |
18 | g.23876376A= | CA2290312356 | LAMA3 | c.254A= (p.Asn85=) c.5081A= (p.Asn1694=) c.1973A= (p.Asn658=) c.5108A= (p.Asn1703=) c.5099A= (p.Asn1700=) c.5090A= (p.Asn1697=) c.4976A= (p.Asn1659=) c.2960A= (p.Asn987=) c.650A= (p.Asn217=) n.5349A= | |
18 | g.23876376A>C | CA402045023 | LAMA3 | c.254A>C (p.Asn85Thr) c.5081A>C (p.Asn1694Thr) c.1973A>C (p.Asn658Thr) c.5108A>C (p.Asn1703Thr) c.5099A>C (p.Asn1700Thr) c.5090A>C (p.Asn1697Thr) c.4976A>C (p.Asn1659Thr) c.2960A>C (p.Asn987Thr) c.650A>C (p.Asn217Thr) n.5349A>C | |
18 | g.23876376A>G | CA8915882 | LAMA3 | c.254A>G (p.Asn85Ser) c.5081A>G (p.Asn1694Ser) c.1973A>G (p.Asn658Ser) c.5108A>G (p.Asn1703Ser) c.5099A>G (p.Asn1700Ser) c.5090A>G (p.Asn1697Ser) c.4976A>G (p.Asn1659Ser) c.2960A>G (p.Asn987Ser) c.650A>G (p.Asn217Ser) n.5349A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23876376A>T | CA402045024 | LAMA3 | c.254A>T (p.Asn85Ile) c.5081A>T (p.Asn1694Ile) c.1973A>T (p.Asn658Ile) c.5108A>T (p.Asn1703Ile) c.5099A>T (p.Asn1700Ile) c.5090A>T (p.Asn1697Ile) c.4976A>T (p.Asn1659Ile) c.2960A>T (p.Asn987Ile) c.650A>T (p.Asn217Ile) n.5349A>T | |
18 | g.23876377T>A | CA402045026 | LAMA3 | c.255T>A (p.Asn85Lys) c.5082T>A (p.Asn1694Lys) c.1974T>A (p.Asn658Lys) c.5109T>A (p.Asn1703Lys) c.5100T>A (p.Asn1700Lys) c.5091T>A (p.Asn1697Lys) c.4977T>A (p.Asn1659Lys) c.2961T>A (p.Asn987Lys) c.651T>A (p.Asn217Lys) n.5350T>A | gnomAD v4 |
18 | g.23876377T>C | CA503327924 | LAMA3 | c.255T>C (p.Asn85=) c.5082T>C (p.Asn1694=) c.1974T>C (p.Asn658=) c.5109T>C (p.Asn1703=) c.5100T>C (p.Asn1700=) c.5091T>C (p.Asn1697=) c.4977T>C (p.Asn1659=) c.2961T>C (p.Asn987=) c.651T>C (p.Asn217=) n.5350T>C | ClinVar |
18 | g.23876377T>G | CA402045025 | LAMA3 | c.255T>G (p.Asn85Lys) c.5082T>G (p.Asn1694Lys) c.1974T>G (p.Asn658Lys) c.5109T>G (p.Asn1703Lys) c.5100T>G (p.Asn1700Lys) c.5091T>G (p.Asn1697Lys) c.4977T>G (p.Asn1659Lys) c.2961T>G (p.Asn987Lys) c.651T>G (p.Asn217Lys) n.5350T>G | |
18 | g.23876378C>A | CA402045027 | LAMA3 | c.256C>A (p.Gln86Lys) c.5083C>A (p.Gln1695Lys) c.1975C>A (p.Gln659Lys) c.5110C>A (p.Gln1704Lys) c.5101C>A (p.Gln1701Lys) c.5092C>A (p.Gln1698Lys) c.4978C>A (p.Gln1660Lys) c.2962C>A (p.Gln988Lys) c.652C>A (p.Gln218Lys) n.5351C>A | gnomAD v4 |
18 | g.23876378C>G | CA402045028 | LAMA3 | c.256C>G (p.Gln86Glu) c.5083C>G (p.Gln1695Glu) c.1975C>G (p.Gln659Glu) c.5110C>G (p.Gln1704Glu) c.5101C>G (p.Gln1701Glu) c.5092C>G (p.Gln1698Glu) c.4978C>G (p.Gln1660Glu) c.2962C>G (p.Gln988Glu) c.652C>G (p.Gln218Glu) n.5351C>G | |
18 | g.23876378C>T | CA402045029 | LAMA3 | c.256C>T (p.Gln86Ter) c.5083C>T (p.Gln1695Ter) c.1975C>T (p.Gln659Ter) c.5110C>T (p.Gln1704Ter) c.5101C>T (p.Gln1701Ter) c.5092C>T (p.Gln1698Ter) c.4978C>T (p.Gln1660Ter) c.2962C>T (p.Gln988Ter) c.652C>T (p.Gln218Ter) n.5351C>T | |
18 | g.23876379A= | CA2290312357 | LAMA3 | c.257A= (p.Gln86=) c.5084A= (p.Gln1695=) c.1976A= (p.Gln659=) c.5111A= (p.Gln1704=) c.5102A= (p.Gln1701=) c.5093A= (p.Gln1698=) c.4979A= (p.Gln1660=) c.2963A= (p.Gln988=) c.653A= (p.Gln218=) n.5352A= | |
18 | g.23876379A>C | CA402045030 | LAMA3 | c.257A>C (p.Gln86Pro) c.5084A>C (p.Gln1695Pro) c.1976A>C (p.Gln659Pro) c.5111A>C (p.Gln1704Pro) c.5102A>C (p.Gln1701Pro) c.5093A>C (p.Gln1698Pro) c.4979A>C (p.Gln1660Pro) c.2963A>C (p.Gln988Pro) c.653A>C (p.Gln218Pro) n.5352A>C | |
18 | g.23876379A>G | CA402045031 | LAMA3 | c.257A>G (p.Gln86Arg) c.5084A>G (p.Gln1695Arg) c.1976A>G (p.Gln659Arg) c.5111A>G (p.Gln1704Arg) c.5102A>G (p.Gln1701Arg) c.5093A>G (p.Gln1698Arg) c.4979A>G (p.Gln1660Arg) c.2963A>G (p.Gln988Arg) c.653A>G (p.Gln218Arg) n.5352A>G | dbSNP gnomAD v4 |
18 | g.23876379A>T | CA402045032 | LAMA3 | c.257A>T (p.Gln86Leu) c.5084A>T (p.Gln1695Leu) c.1976A>T (p.Gln659Leu) c.5111A>T (p.Gln1704Leu) c.5102A>T (p.Gln1701Leu) c.5093A>T (p.Gln1698Leu) c.4979A>T (p.Gln1660Leu) c.2963A>T (p.Gln988Leu) c.653A>T (p.Gln218Leu) n.5352A>T | dbSNP gnomAD v3 gnomAD v4 |
18 | g.23876380A= | CA2290312358 | LAMA3 | c.258A= (p.Gln86=) c.5085A= (p.Gln1695=) c.1977A= (p.Gln659=) c.5112A= (p.Gln1704=) c.5103A= (p.Gln1701=) c.5094A= (p.Gln1698=) c.4980A= (p.Gln1660=) c.2964A= (p.Gln988=) c.654A= (p.Gln218=) n.5353A= | |
18 | g.23876380A>C | CA402045033 | LAMA3 | c.258A>C (p.Gln86His) c.5085A>C (p.Gln1695His) c.1977A>C (p.Gln659His) c.5112A>C (p.Gln1704His) c.5103A>C (p.Gln1701His) c.5094A>C (p.Gln1698His) c.4980A>C (p.Gln1660His) c.2964A>C (p.Gln988His) c.654A>C (p.Gln218His) n.5353A>C | |
18 | g.23876380A>G | CA8915883 | LAMA3 | c.258A>G (p.Gln86=) c.5085A>G (p.Gln1695=) c.1977A>G (p.Gln659=) c.5112A>G (p.Gln1704=) c.5103A>G (p.Gln1701=) c.5094A>G (p.Gln1698=) c.4980A>G (p.Gln1660=) c.2964A>G (p.Gln988=) c.654A>G (p.Gln218=) n.5353A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23876380A>T | CA402045034 | LAMA3 | c.258A>T (p.Gln86His) c.5085A>T (p.Gln1695His) c.1977A>T (p.Gln659His) c.5112A>T (p.Gln1704His) c.5103A>T (p.Gln1701His) c.5094A>T (p.Gln1698His) c.4980A>T (p.Gln1660His) c.2964A>T (p.Gln988His) c.654A>T (p.Gln218His) n.5353A>T | dbSNP |
18 | g.23876381T>A | CA402045035 | LAMA3 | c.259T>A (p.Cys87Ser) c.5086T>A (p.Cys1696Ser) c.1978T>A (p.Cys660Ser) c.5113T>A (p.Cys1705Ser) c.5104T>A (p.Cys1702Ser) c.5095T>A (p.Cys1699Ser) c.4981T>A (p.Cys1661Ser) c.2965T>A (p.Cys989Ser) c.655T>A (p.Cys219Ser) n.5354T>A | |
18 | g.23876381T>C | CA402045036 | LAMA3 | c.259T>C (p.Cys87Arg) c.5086T>C (p.Cys1696Arg) c.1978T>C (p.Cys660Arg) c.5113T>C (p.Cys1705Arg) c.5104T>C (p.Cys1702Arg) c.5095T>C (p.Cys1699Arg) c.4981T>C (p.Cys1661Arg) c.2965T>C (p.Cys989Arg) c.655T>C (p.Cys219Arg) n.5354T>C | gnomAD v4 |
18 | g.23876381T>G | CA402045037 | LAMA3 | c.259T>G (p.Cys87Gly) c.5086T>G (p.Cys1696Gly) c.1978T>G (p.Cys660Gly) c.5113T>G (p.Cys1705Gly) c.5104T>G (p.Cys1702Gly) c.5095T>G (p.Cys1699Gly) c.4981T>G (p.Cys1661Gly) c.2965T>G (p.Cys989Gly) c.655T>G (p.Cys219Gly) n.5354T>G | |
18 | g.23876382G>A | CA402045040 | LAMA3 | c.260G>A (p.Cys87Tyr) c.5087G>A (p.Cys1696Tyr) c.1979G>A (p.Cys660Tyr) c.5114G>A (p.Cys1705Tyr) c.5105G>A (p.Cys1702Tyr) c.5096G>A (p.Cys1699Tyr) c.4982G>A (p.Cys1661Tyr) c.2966G>A (p.Cys989Tyr) c.656G>A (p.Cys219Tyr) n.5355G>A | |
18 | g.23876382G>C | CA402045039 | LAMA3 | c.260G>C (p.Cys87Ser) c.5087G>C (p.Cys1696Ser) c.1979G>C (p.Cys660Ser) c.5114G>C (p.Cys1705Ser) c.5105G>C (p.Cys1702Ser) c.5096G>C (p.Cys1699Ser) c.4982G>C (p.Cys1661Ser) c.2966G>C (p.Cys989Ser) c.656G>C (p.Cys219Ser) n.5355G>C | |
18 | g.23876382G>T | CA402045038 | LAMA3 | c.260G>T (p.Cys87Phe) c.5087G>T (p.Cys1696Phe) c.1979G>T (p.Cys660Phe) c.5114G>T (p.Cys1705Phe) c.5105G>T (p.Cys1702Phe) c.5096G>T (p.Cys1699Phe) c.4982G>T (p.Cys1661Phe) c.2966G>T (p.Cys989Phe) c.656G>T (p.Cys219Phe) n.5355G>T | |
18 | g.23876383C>A | CA402045041 | LAMA3 | c.261C>A (p.Cys87Ter) c.5088C>A (p.Cys1696Ter) c.1980C>A (p.Cys660Ter) c.5115C>A (p.Cys1705Ter) c.5106C>A (p.Cys1702Ter) c.5097C>A (p.Cys1699Ter) c.4983C>A (p.Cys1661Ter) c.2967C>A (p.Cys989Ter) c.657C>A (p.Cys219Ter) n.5356C>A | gnomAD v4 |
18 | g.23876383C>G | CA402045042 | LAMA3 | c.261C>G (p.Cys87Trp) c.5088C>G (p.Cys1696Trp) c.1980C>G (p.Cys660Trp) c.5115C>G (p.Cys1705Trp) c.5106C>G (p.Cys1702Trp) c.5097C>G (p.Cys1699Trp) c.4983C>G (p.Cys1661Trp) c.2967C>G (p.Cys989Trp) c.657C>G (p.Cys219Trp) n.5356C>G | |
18 | g.23876383C>T | CA503327927 | LAMA3 | c.261C>T (p.Cys87=) c.5088C>T (p.Cys1696=) c.1980C>T (p.Cys660=) c.5115C>T (p.Cys1705=) c.5106C>T (p.Cys1702=) c.5097C>T (p.Cys1699=) c.4983C>T (p.Cys1661=) c.2967C>T (p.Cys989=) c.657C>T (p.Cys219=) n.5356C>T | gnomAD v4 |
18 | g.23876384C>A | CA402045043 | LAMA3 | c.262C>A (p.Gln88Lys) c.5089C>A (p.Gln1697Lys) c.1981C>A (p.Gln661Lys) c.5116C>A (p.Gln1706Lys) c.5107C>A (p.Gln1703Lys) c.5098C>A (p.Gln1700Lys) c.4984C>A (p.Gln1662Lys) c.2968C>A (p.Gln990Lys) c.658C>A (p.Gln220Lys) n.5357C>A | |
18 | g.23876384C>G | CA402045044 | LAMA3 | c.262C>G (p.Gln88Glu) c.5089C>G (p.Gln1697Glu) c.1981C>G (p.Gln661Glu) c.5116C>G (p.Gln1706Glu) c.5107C>G (p.Gln1703Glu) c.5098C>G (p.Gln1700Glu) c.4984C>G (p.Gln1662Glu) c.2968C>G (p.Gln990Glu) c.658C>G (p.Gln220Glu) n.5357C>G | |
18 | g.23876384C>T | CA402045045 | LAMA3 | c.262C>T (p.Gln88Ter) c.5089C>T (p.Gln1697Ter) c.1981C>T (p.Gln661Ter) c.5116C>T (p.Gln1706Ter) c.5107C>T (p.Gln1703Ter) c.5098C>T (p.Gln1700Ter) c.4984C>T (p.Gln1662Ter) c.2968C>T (p.Gln990Ter) c.658C>T (p.Gln220Ter) n.5357C>T | |
18 | g.23876385A>C | CA402045046 | LAMA3 | c.263A>C (p.Gln88Pro) c.5090A>C (p.Gln1697Pro) c.1982A>C (p.Gln661Pro) c.5117A>C (p.Gln1706Pro) c.5108A>C (p.Gln1703Pro) c.5099A>C (p.Gln1700Pro) c.4985A>C (p.Gln1662Pro) c.2969A>C (p.Gln990Pro) c.659A>C (p.Gln220Pro) n.5358A>C | |
18 | g.23876385A>G | CA402045047 | LAMA3 | c.263A>G (p.Gln88Arg) c.5090A>G (p.Gln1697Arg) c.1982A>G (p.Gln661Arg) c.5117A>G (p.Gln1706Arg) c.5108A>G (p.Gln1703Arg) c.5099A>G (p.Gln1700Arg) c.4985A>G (p.Gln1662Arg) c.2969A>G (p.Gln990Arg) c.659A>G (p.Gln220Arg) n.5358A>G | |
18 | g.23876385A>T | CA402045048 | LAMA3 | c.263A>T (p.Gln88Leu) c.5090A>T (p.Gln1697Leu) c.1982A>T (p.Gln661Leu) c.5117A>T (p.Gln1706Leu) c.5108A>T (p.Gln1703Leu) c.5099A>T (p.Gln1700Leu) c.4985A>T (p.Gln1662Leu) c.2969A>T (p.Gln990Leu) c.659A>T (p.Gln220Leu) n.5358A>T | |
18 | g.23876386G>A | CA503327931 | LAMA3 | c.264G>A (p.Gln88=) c.5091G>A (p.Gln1697=) c.1983G>A (p.Gln661=) c.5118G>A (p.Gln1706=) c.5109G>A (p.Gln1703=) c.5100G>A (p.Gln1700=) c.4986G>A (p.Gln1662=) c.2970G>A (p.Gln990=) c.660G>A (p.Gln220=) n.5359G>A | |
18 | g.23876386G>C | CA402045049 | LAMA3 | c.264G>C (p.Gln88His) c.5091G>C (p.Gln1697His) c.1983G>C (p.Gln661His) c.5118G>C (p.Gln1706His) c.5109G>C (p.Gln1703His) c.5100G>C (p.Gln1700His) c.4986G>C (p.Gln1662His) c.2970G>C (p.Gln990His) c.660G>C (p.Gln220His) n.5359G>C | |
18 | g.23876386G>T | CA402045050 | LAMA3 | c.264G>T (p.Gln88His) c.5091G>T (p.Gln1697His) c.1983G>T (p.Gln661His) c.5118G>T (p.Gln1706His) c.5109G>T (p.Gln1703His) c.5100G>T (p.Gln1700His) c.4986G>T (p.Gln1662His) c.2970G>T (p.Gln990His) c.660G>T (p.Gln220His) n.5359G>T | |
18 | g.23876387G>A | CA402045051 | LAMA3 | c.265G>A (p.Asp89Asn) c.5092G>A (p.Asp1698Asn) c.1984G>A (p.Asp662Asn) c.5119G>A (p.Asp1707Asn) c.5110G>A (p.Asp1704Asn) c.5101G>A (p.Asp1701Asn) c.4987G>A (p.Asp1663Asn) c.2971G>A (p.Asp991Asn) c.661G>A (p.Asp221Asn) n.5360G>A | |
18 | g.23876387G>C | CA402045052 | LAMA3 | c.265G>C (p.Asp89His) c.5092G>C (p.Asp1698His) c.1984G>C (p.Asp662His) c.5119G>C (p.Asp1707His) c.5110G>C (p.Asp1704His) c.5101G>C (p.Asp1701His) c.4987G>C (p.Asp1663His) c.2971G>C (p.Asp991His) c.661G>C (p.Asp221His) n.5360G>C | gnomAD v4 |
18 | g.23876387G>T | CA402045053 | LAMA3 | c.265G>T (p.Asp89Tyr) c.5092G>T (p.Asp1698Tyr) c.1984G>T (p.Asp662Tyr) c.5119G>T (p.Asp1707Tyr) c.5110G>T (p.Asp1704Tyr) c.5101G>T (p.Asp1701Tyr) c.4987G>T (p.Asp1663Tyr) c.2971G>T (p.Asp991Tyr) c.661G>T (p.Asp221Tyr) n.5360G>T | |
18 | g.23876388A= | CA2290312359 | LAMA3 | c.266A= (p.Asp89=) c.5093A= (p.Asp1698=) c.1985A= (p.Asp662=) c.5120A= (p.Asp1707=) c.5111A= (p.Asp1704=) c.5102A= (p.Asp1701=) c.4988A= (p.Asp1663=) c.2972A= (p.Asp991=) c.662A= (p.Asp221=) n.5361A= | |
18 | g.23876388A>C | CA402045054 | LAMA3 | c.266A>C (p.Asp89Ala) c.5093A>C (p.Asp1698Ala) c.1985A>C (p.Asp662Ala) c.5120A>C (p.Asp1707Ala) c.5111A>C (p.Asp1704Ala) c.5102A>C (p.Asp1701Ala) c.4988A>C (p.Asp1663Ala) c.2972A>C (p.Asp991Ala) c.662A>C (p.Asp221Ala) n.5361A>C | |
18 | g.23876388A>G | CA402045056 | LAMA3 | c.266A>G (p.Asp89Gly) c.5093A>G (p.Asp1698Gly) c.1985A>G (p.Asp662Gly) c.5120A>G (p.Asp1707Gly) c.5111A>G (p.Asp1704Gly) c.5102A>G (p.Asp1701Gly) c.4988A>G (p.Asp1663Gly) c.2972A>G (p.Asp991Gly) c.662A>G (p.Asp221Gly) n.5361A>G | dbSNP |
18 | g.23876388A>T | CA402045055 | LAMA3 | c.266A>T (p.Asp89Val) c.5093A>T (p.Asp1698Val) c.1985A>T (p.Asp662Val) c.5120A>T (p.Asp1707Val) c.5111A>T (p.Asp1704Val) c.5102A>T (p.Asp1701Val) c.4988A>T (p.Asp1663Val) c.2972A>T (p.Asp991Val) c.662A>T (p.Asp221Val) n.5361A>T | dbSNP |
18 | g.23876389T>A | CA402045057 | LAMA3 | c.267T>A (p.Asp89Glu) c.5094T>A (p.Asp1698Glu) c.1986T>A (p.Asp662Glu) c.5121T>A (p.Asp1707Glu) c.5112T>A (p.Asp1704Glu) c.5103T>A (p.Asp1701Glu) c.4989T>A (p.Asp1663Glu) c.2973T>A (p.Asp991Glu) c.663T>A (p.Asp221Glu) n.5362T>A | |
18 | g.23876389T>C | CA503327933 | LAMA3 | c.267T>C (p.Asp89=) c.5094T>C (p.Asp1698=) c.1986T>C (p.Asp662=) c.5121T>C (p.Asp1707=) c.5112T>C (p.Asp1704=) c.5103T>C (p.Asp1701=) c.4989T>C (p.Asp1663=) c.2973T>C (p.Asp991=) c.663T>C (p.Asp221=) n.5362T>C | |
18 | g.23876389T>G | CA402045058 | LAMA3 | c.267T>G (p.Asp89Glu) c.5094T>G (p.Asp1698Glu) c.1986T>G (p.Asp662Glu) c.5121T>G (p.Asp1707Glu) c.5112T>G (p.Asp1704Glu) c.5103T>G (p.Asp1701Glu) c.4989T>G (p.Asp1663Glu) c.2973T>G (p.Asp991Glu) c.663T>G (p.Asp221Glu) n.5362T>G | |
18 | g.23876390G>A | CA402045059 | LAMA3 | c.268G>A (p.Gly90Ser) c.5095G>A (p.Gly1699Ser) c.1987G>A (p.Gly663Ser) c.5122G>A (p.Gly1708Ser) c.5113G>A (p.Gly1705Ser) c.5104G>A (p.Gly1702Ser) c.4990G>A (p.Gly1664Ser) c.2974G>A (p.Gly992Ser) c.664G>A (p.Gly222Ser) n.5363G>A | |
18 | g.23876390G>C | CA402045060 | LAMA3 | c.268G>C (p.Gly90Arg) c.5095G>C (p.Gly1699Arg) c.1987G>C (p.Gly663Arg) c.5122G>C (p.Gly1708Arg) c.5113G>C (p.Gly1705Arg) c.5104G>C (p.Gly1702Arg) c.4990G>C (p.Gly1664Arg) c.2974G>C (p.Gly992Arg) c.664G>C (p.Gly222Arg) n.5363G>C | |
18 | g.23876390G>T | CA402045061 | LAMA3 | c.268G>T (p.Gly90Cys) c.5095G>T (p.Gly1699Cys) c.1987G>T (p.Gly663Cys) c.5122G>T (p.Gly1708Cys) c.5113G>T (p.Gly1705Cys) c.5104G>T (p.Gly1702Cys) c.4990G>T (p.Gly1664Cys) c.2974G>T (p.Gly992Cys) c.664G>T (p.Gly222Cys) n.5363G>T | |
18 | g.23876391G>A | CA402045062 | LAMA3 | c.269G>A (p.Gly90Asp) c.5096G>A (p.Gly1699Asp) c.1988G>A (p.Gly663Asp) c.5123G>A (p.Gly1708Asp) c.5114G>A (p.Gly1705Asp) c.5105G>A (p.Gly1702Asp) c.4991G>A (p.Gly1664Asp) c.2975G>A (p.Gly992Asp) c.665G>A (p.Gly222Asp) n.5364G>A | |
18 | g.23876391G>C | CA402045063 | LAMA3 | c.269G>C (p.Gly90Ala) c.5096G>C (p.Gly1699Ala) c.1988G>C (p.Gly663Ala) c.5123G>C (p.Gly1708Ala) c.5114G>C (p.Gly1705Ala) c.5105G>C (p.Gly1702Ala) c.4991G>C (p.Gly1664Ala) c.2975G>C (p.Gly992Ala) c.665G>C (p.Gly222Ala) n.5364G>C | |
18 | g.23876391G= | CA2290312360 | LAMA3 | c.269G= (p.Gly90=) c.5096G= (p.Gly1699=) c.1988G= (p.Gly663=) c.5123G= (p.Gly1708=) c.5114G= (p.Gly1705=) c.5105G= (p.Gly1702=) c.4991G= (p.Gly1664=) c.2975G= (p.Gly992=) c.665G= (p.Gly222=) n.5364G= | |
18 | g.23876391G>T | CA402045064 | LAMA3 | c.269G>T (p.Gly90Val) c.5096G>T (p.Gly1699Val) c.1988G>T (p.Gly663Val) c.5123G>T (p.Gly1708Val) c.5114G>T (p.Gly1705Val) c.5105G>T (p.Gly1702Val) c.4991G>T (p.Gly1664Val) c.2975G>T (p.Gly992Val) c.665G>T (p.Gly222Val) n.5364G>T | dbSNP gnomAD v2 gnomAD v4 |
18 | g.23876392C>A | CA503327937 | LAMA3 | c.270C>A (p.Gly90=) c.5097C>A (p.Gly1699=) c.1989C>A (p.Gly663=) c.5124C>A (p.Gly1708=) c.5115C>A (p.Gly1705=) c.5106C>A (p.Gly1702=) c.4992C>A (p.Gly1664=) c.2976C>A (p.Gly992=) c.666C>A (p.Gly222=) n.5365C>A | gnomAD v4 |
18 | g.23876392C>G | CA503327938 | LAMA3 | c.270C>G (p.Gly90=) c.5097C>G (p.Gly1699=) c.1989C>G (p.Gly663=) c.5124C>G (p.Gly1708=) c.5115C>G (p.Gly1705=) c.5106C>G (p.Gly1702=) c.4992C>G (p.Gly1664=) c.2976C>G (p.Gly992=) c.666C>G (p.Gly222=) n.5365C>G | |
18 | g.23876392C>T | CA503327939 | LAMA3 | c.270C>T (p.Gly90=) c.5097C>T (p.Gly1699=) c.1989C>T (p.Gly663=) c.5124C>T (p.Gly1708=) c.5115C>T (p.Gly1705=) c.5106C>T (p.Gly1702=) c.4992C>T (p.Gly1664=) c.2976C>T (p.Gly992=) c.666C>T (p.Gly222=) n.5365C>T | |
18 | g.23876393T>A | CA402045065 | LAMA3 | c.271T>A (p.Ser91Thr) c.5098T>A (p.Ser1700Thr) c.1990T>A (p.Ser664Thr) c.5125T>A (p.Ser1709Thr) c.5116T>A (p.Ser1706Thr) c.5107T>A (p.Ser1703Thr) c.4993T>A (p.Ser1665Thr) c.2977T>A (p.Ser993Thr) c.667T>A (p.Ser223Thr) n.5366T>A | |
18 | g.23876393T>C | CA402045066 | LAMA3 | c.271T>C (p.Ser91Pro) c.5098T>C (p.Ser1700Pro) c.1990T>C (p.Ser664Pro) c.5125T>C (p.Ser1709Pro) c.5116T>C (p.Ser1706Pro) c.5107T>C (p.Ser1703Pro) c.4993T>C (p.Ser1665Pro) c.2977T>C (p.Ser993Pro) c.667T>C (p.Ser223Pro) n.5366T>C | |
18 | g.23876393T>G | CA402045067 | LAMA3 | c.271T>G (p.Ser91Ala) c.5098T>G (p.Ser1700Ala) c.1990T>G (p.Ser664Ala) c.5125T>G (p.Ser1709Ala) c.5116T>G (p.Ser1706Ala) c.5107T>G (p.Ser1703Ala) c.4993T>G (p.Ser1665Ala) c.2977T>G (p.Ser993Ala) c.667T>G (p.Ser223Ala) n.5366T>G | |
18 | g.23876394C>A | CA402045069 | LAMA3 | c.272C>A (p.Ser91Ter) c.5099C>A (p.Ser1700Ter) c.1991C>A (p.Ser664Ter) c.5126C>A (p.Ser1709Ter) c.5117C>A (p.Ser1706Ter) c.5108C>A (p.Ser1703Ter) c.4994C>A (p.Ser1665Ter) c.2978C>A (p.Ser993Ter) c.668C>A (p.Ser223Ter) n.5367C>A | gnomAD v4 |
18 | g.23876394C= | CA2290312361 | LAMA3 | c.272C= (p.Ser91=) c.5099C= (p.Ser1700=) c.1991C= (p.Ser664=) c.5126C= (p.Ser1709=) c.5117C= (p.Ser1706=) c.5108C= (p.Ser1703=) c.4994C= (p.Ser1665=) c.2978C= (p.Ser993=) c.668C= (p.Ser223=) n.5367C= | |
18 | g.23876394C>G | CA8915884 | LAMA3 | c.272C>G (p.Ser91Ter) c.5099C>G (p.Ser1700Ter) c.1991C>G (p.Ser664Ter) c.5126C>G (p.Ser1709Ter) c.5117C>G (p.Ser1706Ter) c.5108C>G (p.Ser1703Ter) c.4994C>G (p.Ser1665Ter) c.2978C>G (p.Ser993Ter) c.668C>G (p.Ser223Ter) n.5367C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23876394C>T | CA402045068 | LAMA3 | c.272C>T (p.Ser91Leu) c.5099C>T (p.Ser1700Leu) c.1991C>T (p.Ser664Leu) c.5126C>T (p.Ser1709Leu) c.5117C>T (p.Ser1706Leu) c.5108C>T (p.Ser1703Leu) c.4994C>T (p.Ser1665Leu) c.2978C>T (p.Ser993Leu) c.668C>T (p.Ser223Leu) n.5367C>T | gnomAD v4 |
18 | g.23876395A>C | CA503327943 | LAMA3 | c.273A>C (p.Ser91=) c.5100A>C (p.Ser1700=) c.1992A>C (p.Ser664=) c.5127A>C (p.Ser1709=) c.5118A>C (p.Ser1706=) c.5109A>C (p.Ser1703=) c.4995A>C (p.Ser1665=) c.2979A>C (p.Ser993=) c.669A>C (p.Ser223=) n.5368A>C | |
18 | g.23876395A>G | CA503327944 | LAMA3 | c.273A>G (p.Ser91=) c.5100A>G (p.Ser1700=) c.1992A>G (p.Ser664=) c.5127A>G (p.Ser1709=) c.5118A>G (p.Ser1706=) c.5109A>G (p.Ser1703=) c.4995A>G (p.Ser1665=) c.2979A>G (p.Ser993=) c.669A>G (p.Ser223=) n.5368A>G | |
18 | g.23876395A>T | CA503327945 | LAMA3 | c.273A>T (p.Ser91=) c.5100A>T (p.Ser1700=) c.1992A>T (p.Ser664=) c.5127A>T (p.Ser1709=) c.5118A>T (p.Ser1706=) c.5109A>T (p.Ser1703=) c.4995A>T (p.Ser1665=) c.2979A>T (p.Ser993=) c.669A>T (p.Ser223=) n.5368A>T | |
18 | g.23876396G>A | CA402045071 | LAMA3 | c.274G>A (p.Gly92Ser) c.5101G>A (p.Gly1701Ser) c.1993G>A (p.Gly665Ser) c.5128G>A (p.Gly1710Ser) c.5119G>A (p.Gly1707Ser) c.5110G>A (p.Gly1704Ser) c.4996G>A (p.Gly1666Ser) c.2980G>A (p.Gly994Ser) c.670G>A (p.Gly224Ser) n.5369G>A | gnomAD v4 |
18 | g.23876396G>C | CA402045070 | LAMA3 | c.274G>C (p.Gly92Arg) c.5101G>C (p.Gly1701Arg) c.1993G>C (p.Gly665Arg) c.5128G>C (p.Gly1710Arg) c.5119G>C (p.Gly1707Arg) c.5110G>C (p.Gly1704Arg) c.4996G>C (p.Gly1666Arg) c.2980G>C (p.Gly994Arg) c.670G>C (p.Gly224Arg) n.5369G>C | |
18 | g.23876396G>T | CA402045072 | LAMA3 | c.274G>T (p.Gly92Cys) c.5101G>T (p.Gly1701Cys) c.1993G>T (p.Gly665Cys) c.5128G>T (p.Gly1710Cys) c.5119G>T (p.Gly1707Cys) c.5110G>T (p.Gly1704Cys) c.4996G>T (p.Gly1666Cys) c.2980G>T (p.Gly994Cys) c.670G>T (p.Gly224Cys) n.5369G>T | |
18 | g.23876397G>A | CA402045073 | LAMA3 | c.275G>A (p.Gly92Asp) c.5102G>A (p.Gly1701Asp) c.1994G>A (p.Gly665Asp) c.5129G>A (p.Gly1710Asp) c.5120G>A (p.Gly1707Asp) c.5111G>A (p.Gly1704Asp) c.4997G>A (p.Gly1666Asp) c.2981G>A (p.Gly994Asp) c.671G>A (p.Gly224Asp) n.5370G>A | |
18 | g.23876397G>C | CA402045074 | LAMA3 | c.275G>C (p.Gly92Ala) c.5102G>C (p.Gly1701Ala) c.1994G>C (p.Gly665Ala) c.5129G>C (p.Gly1710Ala) c.5120G>C (p.Gly1707Ala) c.5111G>C (p.Gly1704Ala) c.4997G>C (p.Gly1666Ala) c.2981G>C (p.Gly994Ala) c.671G>C (p.Gly224Ala) n.5370G>C | |
18 | g.23876397G>T | CA402045075 | LAMA3 | c.275G>T (p.Gly92Val) c.5102G>T (p.Gly1701Val) c.1994G>T (p.Gly665Val) c.5129G>T (p.Gly1710Val) c.5120G>T (p.Gly1707Val) c.5111G>T (p.Gly1704Val) c.4997G>T (p.Gly1666Val) c.2981G>T (p.Gly994Val) c.671G>T (p.Gly224Val) n.5370G>T | gnomAD v4 |
18 | g.23876398C>A | CA503327951 | LAMA3 | c.276C>A (p.Gly92=) c.5103C>A (p.Gly1701=) c.1995C>A (p.Gly665=) c.5130C>A (p.Gly1710=) c.5121C>A (p.Gly1707=) c.5112C>A (p.Gly1704=) c.4998C>A (p.Gly1666=) c.2982C>A (p.Gly994=) c.672C>A (p.Gly224=) n.5371C>A | |
18 | g.23876398C>G | CA503327950 | LAMA3 | c.276C>G (p.Gly92=) c.5103C>G (p.Gly1701=) c.1995C>G (p.Gly665=) c.5130C>G (p.Gly1710=) c.5121C>G (p.Gly1707=) c.5112C>G (p.Gly1704=) c.4998C>G (p.Gly1666=) c.2982C>G (p.Gly994=) c.672C>G (p.Gly224=) n.5371C>G | |
18 | g.23876398C>T | CA503327949 | LAMA3 | c.276C>T (p.Gly92=) c.5103C>T (p.Gly1701=) c.1995C>T (p.Gly665=) c.5130C>T (p.Gly1710=) c.5121C>T (p.Gly1707=) c.5112C>T (p.Gly1704=) c.4998C>T (p.Gly1666=) c.2982C>T (p.Gly994=) c.672C>T (p.Gly224=) n.5371C>T | |
18 | g.23876399A= | CA2290312362 | LAMA3 | c.277A= (p.Ile93=) c.5104A= (p.Ile1702=) c.1996A= (p.Ile666=) c.5131A= (p.Ile1711=) c.5122A= (p.Ile1708=) c.5113A= (p.Ile1705=) c.4999A= (p.Ile1667=) c.2983A= (p.Ile995=) c.673A= (p.Ile225=) n.5372A= | |
18 | g.23876399A>C | CA402045076 | LAMA3 | c.277A>C (p.Ile93Leu) c.5104A>C (p.Ile1702Leu) c.1996A>C (p.Ile666Leu) c.5131A>C (p.Ile1711Leu) c.5122A>C (p.Ile1708Leu) c.5113A>C (p.Ile1705Leu) c.4999A>C (p.Ile1667Leu) c.2983A>C (p.Ile995Leu) c.673A>C (p.Ile225Leu) n.5372A>C | |
18 | g.23876399A>G | CA402045077 | LAMA3 | c.277A>G (p.Ile93Val) c.5104A>G (p.Ile1702Val) c.1996A>G (p.Ile666Val) c.5131A>G (p.Ile1711Val) c.5122A>G (p.Ile1708Val) c.5113A>G (p.Ile1705Val) c.4999A>G (p.Ile1667Val) c.2983A>G (p.Ile995Val) c.673A>G (p.Ile225Val) n.5372A>G | dbSNP gnomAD v4 |
18 | g.23876399A>T | CA402045078 | LAMA3 | c.277A>T (p.Ile93Leu) c.5104A>T (p.Ile1702Leu) c.1996A>T (p.Ile666Leu) c.5131A>T (p.Ile1711Leu) c.5122A>T (p.Ile1708Leu) c.5113A>T (p.Ile1705Leu) c.4999A>T (p.Ile1667Leu) c.2983A>T (p.Ile995Leu) c.673A>T (p.Ile225Leu) n.5372A>T | dbSNP gnomAD v3 gnomAD v4 |
18 | g.23876400T>A | CA402045079 | LAMA3 | c.278T>A (p.Ile93Lys) c.5105T>A (p.Ile1702Lys) c.1997T>A (p.Ile666Lys) c.5132T>A (p.Ile1711Lys) c.5123T>A (p.Ile1708Lys) c.5114T>A (p.Ile1705Lys) c.5000T>A (p.Ile1667Lys) c.2984T>A (p.Ile995Lys) c.674T>A (p.Ile225Lys) n.5373T>A | |
18 | g.23876400T>C | CA402045080 | LAMA3 | c.278T>C (p.Ile93Thr) c.5105T>C (p.Ile1702Thr) c.1997T>C (p.Ile666Thr) c.5132T>C (p.Ile1711Thr) c.5123T>C (p.Ile1708Thr) c.5114T>C (p.Ile1705Thr) c.5000T>C (p.Ile1667Thr) c.2984T>C (p.Ile995Thr) c.674T>C (p.Ile225Thr) n.5373T>C | COSMIC COSMIC |
18 | g.23876400T>G | CA402045081 | LAMA3 | c.278T>G (p.Ile93Arg) c.5105T>G (p.Ile1702Arg) c.1997T>G (p.Ile666Arg) c.5132T>G (p.Ile1711Arg) c.5123T>G (p.Ile1708Arg) c.5114T>G (p.Ile1705Arg) c.5000T>G (p.Ile1667Arg) c.2984T>G (p.Ile995Arg) c.674T>G (p.Ile225Arg) n.5373T>G | |
18 | g.23876401A= | CA2290312363 | LAMA3 | c.279A= (p.Ile93=) c.5106A= (p.Ile1702=) c.1998A= (p.Ile666=) c.5133A= (p.Ile1711=) c.5124A= (p.Ile1708=) c.5115A= (p.Ile1705=) c.5001A= (p.Ile1667=) c.2985A= (p.Ile995=) c.675A= (p.Ile225=) n.5374A= | |
18 | g.23876401A>C | CA503327954 | LAMA3 | c.279A>C (p.Ile93=) c.5106A>C (p.Ile1702=) c.1998A>C (p.Ile666=) c.5133A>C (p.Ile1711=) c.5124A>C (p.Ile1708=) c.5115A>C (p.Ile1705=) c.5001A>C (p.Ile1667=) c.2985A>C (p.Ile995=) c.675A>C (p.Ile225=) n.5374A>C | |
18 | g.23876401A>G | CA402045082 | LAMA3 | c.279A>G (p.Ile93Met) c.5106A>G (p.Ile1702Met) c.1998A>G (p.Ile666Met) c.5133A>G (p.Ile1711Met) c.5124A>G (p.Ile1708Met) c.5115A>G (p.Ile1705Met) c.5001A>G (p.Ile1667Met) c.2985A>G (p.Ile995Met) c.675A>G (p.Ile225Met) n.5374A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.23876401A>T | CA503327957 | LAMA3 | c.279A>T (p.Ile93=) c.5106A>T (p.Ile1702=) c.1998A>T (p.Ile666=) c.5133A>T (p.Ile1711=) c.5124A>T (p.Ile1708=) c.5115A>T (p.Ile1705=) c.5001A>T (p.Ile1667=) c.2985A>T (p.Ile995=) c.675A>T (p.Ile225=) n.5374A>T | |
18 | g.23876402T>A | CA402045083 | LAMA3 | c.280T>A (p.Cys94Ser) c.5107T>A (p.Cys1703Ser) c.1999T>A (p.Cys667Ser) c.5134T>A (p.Cys1712Ser) c.5125T>A (p.Cys1709Ser) c.5116T>A (p.Cys1706Ser) c.5002T>A (p.Cys1668Ser) c.2986T>A (p.Cys996Ser) c.676T>A (p.Cys226Ser) n.5375T>A | |
18 | g.23876402T>C | CA402045084 | LAMA3 | c.280T>C (p.Cys94Arg) c.5107T>C (p.Cys1703Arg) c.1999T>C (p.Cys667Arg) c.5134T>C (p.Cys1712Arg) c.5125T>C (p.Cys1709Arg) c.5116T>C (p.Cys1706Arg) c.5002T>C (p.Cys1668Arg) c.2986T>C (p.Cys996Arg) c.676T>C (p.Cys226Arg) n.5375T>C | |
18 | g.23876402T>G | CA402045085 | LAMA3 | c.280T>G (p.Cys94Gly) c.5107T>G (p.Cys1703Gly) c.1999T>G (p.Cys667Gly) c.5134T>G (p.Cys1712Gly) c.5125T>G (p.Cys1709Gly) c.5116T>G (p.Cys1706Gly) c.5002T>G (p.Cys1668Gly) c.2986T>G (p.Cys996Gly) c.676T>G (p.Cys226Gly) n.5375T>G | |
18 | g.23876402_23876403delinsTG | CA2290312364 | LAMA3 | c.280_281delinsTG (p.Cys94=) c.5107_5108delinsTG (p.Cys1703=) c.1999_2000delinsTG (p.Cys667=) c.5134_5135delinsTG (p.Cys1712=) c.5125_5126delinsTG (p.Cys1709=) c.5116_5117delinsTG (p.Cys1706=) c.5002_5003delinsTG (p.Cys1668=) c.2986_2987delinsTG (p.Cys996=) c.676_677delinsTG (p.Cys226=) n.5375_5376delinsTG | |
18 | g.23876403del | CA628681719 | LAMA3 | c.281del (p.Cys94LeufsTer?) c.5108del (p.Cys1703LeufsTer?) c.2000del (p.Cys667LeufsTer?) c.5135del (p.Cys1712LeufsTer?) c.5126del (p.Cys1709LeufsTer?) c.5117del (p.Cys1706LeufsTer?) c.5003del (p.Cys1668LeufsTer?) c.2987del (p.Cys996LeufsTer?) c.677del (p.Cys226LeufsTer?) n.5376del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23876403G>A | CA402045088 | LAMA3 | c.281G>A (p.Cys94Tyr) c.5108G>A (p.Cys1703Tyr) c.2000G>A (p.Cys667Tyr) c.5135G>A (p.Cys1712Tyr) c.5126G>A (p.Cys1709Tyr) c.5117G>A (p.Cys1706Tyr) c.5003G>A (p.Cys1668Tyr) c.2987G>A (p.Cys996Tyr) c.677G>A (p.Cys226Tyr) n.5376G>A | |
18 | g.23876403G>C | CA402045086 | LAMA3 | c.281G>C (p.Cys94Ser) c.5108G>C (p.Cys1703Ser) c.2000G>C (p.Cys667Ser) c.5135G>C (p.Cys1712Ser) c.5126G>C (p.Cys1709Ser) c.5117G>C (p.Cys1706Ser) c.5003G>C (p.Cys1668Ser) c.2987G>C (p.Cys996Ser) c.677G>C (p.Cys226Ser) n.5376G>C | |
18 | g.23876403G>T | CA402045087 | LAMA3 | c.281G>T (p.Cys94Phe) c.5108G>T (p.Cys1703Phe) c.2000G>T (p.Cys667Phe) c.5135G>T (p.Cys1712Phe) c.5126G>T (p.Cys1709Phe) c.5117G>T (p.Cys1706Phe) c.5003G>T (p.Cys1668Phe) c.2987G>T (p.Cys996Phe) c.677G>T (p.Cys226Phe) n.5376G>T | |
18 | g.23876404T>A | CA402045089 | LAMA3 | c.282T>A (p.Cys94Ter) c.5109T>A (p.Cys1703Ter) c.2001T>A (p.Cys667Ter) c.5136T>A (p.Cys1712Ter) c.5127T>A (p.Cys1709Ter) c.5118T>A (p.Cys1706Ter) c.5004T>A (p.Cys1668Ter) c.2988T>A (p.Cys996Ter) c.678T>A (p.Cys226Ter) n.5377T>A | |
18 | g.23876404T>C | CA503327960 | LAMA3 | c.282T>C (p.Cys94=) c.5109T>C (p.Cys1703=) c.2001T>C (p.Cys667=) c.5136T>C (p.Cys1712=) c.5127T>C (p.Cys1709=) c.5118T>C (p.Cys1706=) c.5004T>C (p.Cys1668=) c.2988T>C (p.Cys996=) c.678T>C (p.Cys226=) n.5377T>C | |
18 | g.23876404T>G | CA8915885 | LAMA3 | c.282T>G (p.Cys94Trp) c.5109T>G (p.Cys1703Trp) c.2001T>G (p.Cys667Trp) c.5136T>G (p.Cys1712Trp) c.5127T>G (p.Cys1709Trp) c.5118T>G (p.Cys1706Trp) c.5004T>G (p.Cys1668Trp) c.2988T>G (p.Cys996Trp) c.678T>G (p.Cys226Trp) n.5377T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23876404T= | CA2290312365 | LAMA3 | c.282T= (p.Cys94=) c.5109T= (p.Cys1703=) c.2001T= (p.Cys667=) c.5136T= (p.Cys1712=) c.5127T= (p.Cys1709=) c.5118T= (p.Cys1706=) c.5004T= (p.Cys1668=) c.2988T= (p.Cys996=) c.678T= (p.Cys226=) n.5377T= | |
18 | g.23876405G>A | CA402045090 | LAMA3 | c.283G>A (p.Val95Ile) c.5110G>A (p.Val1704Ile) c.2002G>A (p.Val668Ile) c.5137G>A (p.Val1713Ile) c.5128G>A (p.Val1710Ile) c.5119G>A (p.Val1707Ile) c.5005G>A (p.Val1669Ile) c.2989G>A (p.Val997Ile) c.679G>A (p.Val227Ile) n.5378G>A | gnomAD v4 |
18 | g.23876405G>C | CA402045091 | LAMA3 | c.283G>C (p.Val95Leu) c.5110G>C (p.Val1704Leu) c.2002G>C (p.Val668Leu) c.5137G>C (p.Val1713Leu) c.5128G>C (p.Val1710Leu) c.5119G>C (p.Val1707Leu) c.5005G>C (p.Val1669Leu) c.2989G>C (p.Val997Leu) c.679G>C (p.Val227Leu) n.5378G>C | |
18 | g.23876405G>T | CA402045092 | LAMA3 | c.283G>T (p.Val95Phe) c.5110G>T (p.Val1704Phe) c.2002G>T (p.Val668Phe) c.5137G>T (p.Val1713Phe) c.5128G>T (p.Val1710Phe) c.5119G>T (p.Val1707Phe) c.5005G>T (p.Val1669Phe) c.2989G>T (p.Val997Phe) c.679G>T (p.Val227Phe) n.5378G>T | dbSNP gnomAD v4 |
18 | g.23876406T>A | CA402045093 | LAMA3 | c.284T>A (p.Val95Asp) c.5111T>A (p.Val1704Asp) c.2003T>A (p.Val668Asp) c.5138T>A (p.Val1713Asp) c.5129T>A (p.Val1710Asp) c.5120T>A (p.Val1707Asp) c.5006T>A (p.Val1669Asp) c.2990T>A (p.Val997Asp) c.680T>A (p.Val227Asp) n.5379T>A | |
18 | g.23876406T>C | CA402045094 | LAMA3 | c.284T>C (p.Val95Ala) c.5111T>C (p.Val1704Ala) c.2003T>C (p.Val668Ala) c.5138T>C (p.Val1713Ala) c.5129T>C (p.Val1710Ala) c.5120T>C (p.Val1707Ala) c.5006T>C (p.Val1669Ala) c.2990T>C (p.Val997Ala) c.680T>C (p.Val227Ala) n.5379T>C | |
18 | g.23876406T>G | CA402045095 | LAMA3 | c.284T>G (p.Val95Gly) c.5111T>G (p.Val1704Gly) c.2003T>G (p.Val668Gly) c.5138T>G (p.Val1713Gly) c.5129T>G (p.Val1710Gly) c.5120T>G (p.Val1707Gly) c.5006T>G (p.Val1669Gly) c.2990T>G (p.Val997Gly) c.680T>G (p.Val227Gly) n.5379T>G | |
18 | g.23876407T>A | CA503327962 | LAMA3 | c.285T>A (p.Val95=) c.5112T>A (p.Val1704=) c.2004T>A (p.Val668=) c.5139T>A (p.Val1713=) c.5130T>A (p.Val1710=) c.5121T>A (p.Val1707=) c.5007T>A (p.Val1669=) c.2991T>A (p.Val997=) c.681T>A (p.Val227=) n.5380T>A | |
18 | g.23876407T>C | CA503327964 | LAMA3 | c.285T>C (p.Val95=) c.5112T>C (p.Val1704=) c.2004T>C (p.Val668=) c.5139T>C (p.Val1713=) c.5130T>C (p.Val1710=) c.5121T>C (p.Val1707=) c.5007T>C (p.Val1669=) c.2991T>C (p.Val997=) c.681T>C (p.Val227=) n.5380T>C | gnomAD v4 |
18 | g.23876407T>G | CA503327966 | LAMA3 | c.285T>G (p.Val95=) c.5112T>G (p.Val1704=) c.2004T>G (p.Val668=) c.5139T>G (p.Val1713=) c.5130T>G (p.Val1710=) c.5121T>G (p.Val1707=) c.5007T>G (p.Val1669=) c.2991T>G (p.Val997=) c.681T>G (p.Val227=) n.5380T>G | |
18 | g.23876408G>A | CA402045096 | LAMA3 | c.285+1G>A (n.285+1G>A) c.5112+1G>A (n.5112+1G>A) c.2004+1G>A (n.2004+1G>A) c.5139+1G>A (n.5139+1G>A) c.5130+1G>A (n.5130+1G>A) c.5121+1G>A (n.5121+1G>A) c.5007+1G>A (n.5007+1G>A) c.2991+1G>A (n.2991+1G>A) c.681+1G>A (n.681+1G>A) n.5380+1G>A | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
18 | g.23876408G>C | CA402045097 | LAMA3 | c.285+1G>C (n.285+1G>C) c.5112+1G>C (n.5112+1G>C) c.2004+1G>C (n.2004+1G>C) c.5139+1G>C (n.5139+1G>C) c.5130+1G>C (n.5130+1G>C) c.5121+1G>C (n.5121+1G>C) c.5007+1G>C (n.5007+1G>C) c.2991+1G>C (n.2991+1G>C) c.681+1G>C (n.681+1G>C) n.5380+1G>C | |
18 | g.23876408G= | CA2290312366 | LAMA3 | c.285+1G= (n.285+1G=) c.5112+1G= (n.5112+1G=) c.2004+1G= (n.2004+1G=) c.5139+1G= (n.5139+1G=) c.5130+1G= (n.5130+1G=) c.5121+1G= (n.5121+1G=) c.5007+1G= (n.5007+1G=) c.2991+1G= (n.2991+1G=) c.681+1G= (n.681+1G=) n.5380+1G= | |
18 | g.23876408G>T | CA16041928 | LAMA3 | c.285+1G>T (n.285+1G>T) c.5112+1G>T (n.5112+1G>T) c.2004+1G>T (n.2004+1G>T) c.5139+1G>T (n.5139+1G>T) c.5130+1G>T (n.5130+1G>T) c.5121+1G>T (n.5121+1G>T) c.5007+1G>T (n.5007+1G>T) c.2991+1G>T (n.2991+1G>T) c.681+1G>T (n.681+1G>T) n.5380+1G>T | ClinVar dbSNP |
18 | g.23876409T>A | CA402045100 | LAMA3 | c.285+2T>A (n.285+2T>A) c.5112+2T>A (n.5112+2T>A) c.2004+2T>A (n.2004+2T>A) c.5139+2T>A (n.5139+2T>A) c.5130+2T>A (n.5130+2T>A) c.5121+2T>A (n.5121+2T>A) c.5007+2T>A (n.5007+2T>A) c.2991+2T>A (n.2991+2T>A) c.681+2T>A (n.681+2T>A) n.5380+2T>A | dbSNP gnomAD v3 gnomAD v4 |
18 | g.23876409T>C | CA402045099 | LAMA3 | c.285+2T>C (n.285+2T>C) c.5112+2T>C (n.5112+2T>C) c.2004+2T>C (n.2004+2T>C) c.5139+2T>C (n.5139+2T>C) c.5130+2T>C (n.5130+2T>C) c.5121+2T>C (n.5121+2T>C) c.5007+2T>C (n.5007+2T>C) c.2991+2T>C (n.2991+2T>C) c.681+2T>C (n.681+2T>C) n.5380+2T>C | |
18 | g.23876409T>G | CA402045098 | LAMA3 | c.285+2T>G (n.285+2T>G) c.5112+2T>G (n.5112+2T>G) c.2004+2T>G (n.2004+2T>G) c.5139+2T>G (n.5139+2T>G) c.5130+2T>G (n.5130+2T>G) c.5121+2T>G (n.5121+2T>G) c.5007+2T>G (n.5007+2T>G) c.2991+2T>G (n.2991+2T>G) c.681+2T>G (n.681+2T>G) n.5380+2T>G | ClinVar dbSNP |
18 | g.23876409T= | CA2290312367 | LAMA3 | c.285+2T= (n.285+2T=) c.5112+2T= (n.5112+2T=) c.2004+2T= (n.2004+2T=) c.5139+2T= (n.5139+2T=) c.5130+2T= (n.5130+2T=) c.5121+2T= (n.5121+2T=) c.5007+2T= (n.5007+2T=) c.2991+2T= (n.2991+2T=) c.681+2T= (n.681+2T=) n.5380+2T= | |
18 | g.23876411A= | CA2290312368 | LAMA3 | c.285+4A= (n.285+4A=) c.5112+4A= (n.5112+4A=) c.2004+4A= (n.2004+4A=) c.5139+4A= (n.5139+4A=) c.5130+4A= (n.5130+4A=) c.5121+4A= (n.5121+4A=) c.5007+4A= (n.5007+4A=) c.2991+4A= (n.2991+4A=) c.681+4A= (n.681+4A=) n.5380+4A= | |
18 | g.23876411A>C | CA2290312369 | LAMA3 | c.285+4A>C (n.285+4A>C) c.5112+4A>C (n.5112+4A>C) c.2004+4A>C (n.2004+4A>C) c.5139+4A>C (n.5139+4A>C) c.5130+4A>C (n.5130+4A>C) c.5121+4A>C (n.5121+4A>C) c.5007+4A>C (n.5007+4A>C) c.2991+4A>C (n.2991+4A>C) c.681+4A>C (n.681+4A>C) n.5380+4A>C | dbSNP gnomAD v4 |
18 | g.23876412G>A | CA2641292714 | LAMA3 | c.285+5G>A (n.285+5G>A) c.5112+5G>A (n.5112+5G>A) c.2004+5G>A (n.2004+5G>A) c.5139+5G>A (n.5139+5G>A) c.5130+5G>A (n.5130+5G>A) c.5121+5G>A (n.5121+5G>A) c.5007+5G>A (n.5007+5G>A) c.2991+5G>A (n.2991+5G>A) c.681+5G>A (n.681+5G>A) n.5380+5G>A | gnomAD v4 |
18 | g.23876413T>A | CA2641292715 | LAMA3 | c.285+6T>A (n.285+6T>A) c.5112+6T>A (n.5112+6T>A) c.2004+6T>A (n.2004+6T>A) c.5139+6T>A (n.5139+6T>A) c.5130+6T>A (n.5130+6T>A) c.5121+6T>A (n.5121+6T>A) c.5007+6T>A (n.5007+6T>A) c.2991+6T>A (n.2991+6T>A) c.681+6T>A (n.681+6T>A) n.5380+6T>A | gnomAD v4 |
18 | g.23876413T>C | CA777750488 | LAMA3 | c.285+6T>C (n.285+6T>C) c.5112+6T>C (n.5112+6T>C) c.2004+6T>C (n.2004+6T>C) c.5139+6T>C (n.5139+6T>C) c.5130+6T>C (n.5130+6T>C) c.5121+6T>C (n.5121+6T>C) c.5007+6T>C (n.5007+6T>C) c.2991+6T>C (n.2991+6T>C) c.681+6T>C (n.681+6T>C) n.5380+6T>C | dbSNP gnomAD v3 gnomAD v4 |
18 | g.23876413T= | CA2290312370 | LAMA3 | c.285+6T= (n.285+6T=) c.5112+6T= (n.5112+6T=) c.2004+6T= (n.2004+6T=) c.5139+6T= (n.5139+6T=) c.5130+6T= (n.5130+6T=) c.5121+6T= (n.5121+6T=) c.5007+6T= (n.5007+6T=) c.2991+6T= (n.2991+6T=) c.681+6T= (n.681+6T=) n.5380+6T= | |
18 | g.23876415A>G | CA2641292716 | LAMA3 | c.285+8A>G (n.285+8A>G) c.5112+8A>G (n.5112+8A>G) c.2004+8A>G (n.2004+8A>G) c.5139+8A>G (n.5139+8A>G) c.5130+8A>G (n.5130+8A>G) c.5121+8A>G (n.5121+8A>G) c.5007+8A>G (n.5007+8A>G) c.2991+8A>G (n.2991+8A>G) c.681+8A>G (n.681+8A>G) n.5380+8A>G | gnomAD v4 |
18 | g.23876417T>C | CA8915886 | LAMA3 | c.285+10T>C (n.285+10T>C) c.5112+10T>C (n.5112+10T>C) c.2004+10T>C (n.2004+10T>C) c.5139+10T>C (n.5139+10T>C) c.5130+10T>C (n.5130+10T>C) c.5121+10T>C (n.5121+10T>C) c.5007+10T>C (n.5007+10T>C) c.2991+10T>C (n.2991+10T>C) c.681+10T>C (n.681+10T>C) n.5380+10T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23876417T= | CA2290312371 | LAMA3 | c.285+10T= (n.285+10T=) c.5112+10T= (n.5112+10T=) c.2004+10T= (n.2004+10T=) c.5139+10T= (n.5139+10T=) c.5130+10T= (n.5130+10T=) c.5121+10T= (n.5121+10T=) c.5007+10T= (n.5007+10T=) c.2991+10T= (n.2991+10T=) c.681+10T= (n.681+10T=) n.5380+10T= | |
18 | g.23876418T>G | CA2576472629 | LAMA3 | c.285+11T>G (n.285+11T>G) c.5112+11T>G (n.5112+11T>G) c.2004+11T>G (n.2004+11T>G) c.5139+11T>G (n.5139+11T>G) c.5130+11T>G (n.5130+11T>G) c.5121+11T>G (n.5121+11T>G) c.5007+11T>G (n.5007+11T>G) c.2991+11T>G (n.2991+11T>G) c.681+11T>G (n.681+11T>G) n.5380+11T>G | gnomAD v4 |
18 | g.23876419G>T | CA2641292717 | LAMA3 | c.285+12G>T (n.285+12G>T) c.5112+12G>T (n.5112+12G>T) c.2004+12G>T (n.2004+12G>T) c.5139+12G>T (n.5139+12G>T) c.5130+12G>T (n.5130+12G>T) c.5121+12G>T (n.5121+12G>T) c.5007+12G>T (n.5007+12G>T) c.2991+12G>T (n.2991+12G>T) c.681+12G>T (n.681+12G>T) n.5380+12G>T | gnomAD v4 |
18 | g.23876420A= | CA2290312372 | LAMA3 | c.285+13A= (n.285+13A=) c.5112+13A= (n.5112+13A=) c.2004+13A= (n.2004+13A=) c.5139+13A= (n.5139+13A=) c.5130+13A= (n.5130+13A=) c.5121+13A= (n.5121+13A=) c.5007+13A= (n.5007+13A=) c.2991+13A= (n.2991+13A=) c.681+13A= (n.681+13A=) n.5380+13A= | |
18 | g.23876420A>T | CA628681723 | LAMA3 | c.285+13A>T (n.285+13A>T) c.5112+13A>T (n.5112+13A>T) c.2004+13A>T (n.2004+13A>T) c.5139+13A>T (n.5139+13A>T) c.5130+13A>T (n.5130+13A>T) c.5121+13A>T (n.5121+13A>T) c.5007+13A>T (n.5007+13A>T) c.2991+13A>T (n.2991+13A>T) c.681+13A>T (n.681+13A>T) n.5380+13A>T | dbSNP gnomAD v2 gnomAD v4 |
18 | g.23876421C>A | CA2641292718 | LAMA3 | c.285+14C>A (n.285+14C>A) c.5112+14C>A (n.5112+14C>A) c.2004+14C>A (n.2004+14C>A) c.5139+14C>A (n.5139+14C>A) c.5130+14C>A (n.5130+14C>A) c.5121+14C>A (n.5121+14C>A) c.5007+14C>A (n.5007+14C>A) c.2991+14C>A (n.2991+14C>A) c.681+14C>A (n.681+14C>A) n.5380+14C>A | gnomAD v4 |
18 | g.23876421C>G | CA2641292719 | LAMA3 | c.285+14C>G (n.285+14C>G) c.5112+14C>G (n.5112+14C>G) c.2004+14C>G (n.2004+14C>G) c.5139+14C>G (n.5139+14C>G) c.5130+14C>G (n.5130+14C>G) c.5121+14C>G (n.5121+14C>G) c.5007+14C>G (n.5007+14C>G) c.2991+14C>G (n.2991+14C>G) c.681+14C>G (n.681+14C>G) n.5380+14C>G | gnomAD v4 |
18 | g.23876422A>G | CA2641292720 | LAMA3 | c.285+15A>G (n.285+15A>G) c.5112+15A>G (n.5112+15A>G) c.2004+15A>G (n.2004+15A>G) c.5139+15A>G (n.5139+15A>G) c.5130+15A>G (n.5130+15A>G) c.5121+15A>G (n.5121+15A>G) c.5007+15A>G (n.5007+15A>G) c.2991+15A>G (n.2991+15A>G) c.681+15A>G (n.681+15A>G) n.5380+15A>G | gnomAD v4 |
18 | g.23876423C>A | CA2641292721 | LAMA3 | c.285+16C>A (n.285+16C>A) c.5112+16C>A (n.5112+16C>A) c.2004+16C>A (n.2004+16C>A) c.5139+16C>A (n.5139+16C>A) c.5130+16C>A (n.5130+16C>A) c.5121+16C>A (n.5121+16C>A) c.5007+16C>A (n.5007+16C>A) c.2991+16C>A (n.2991+16C>A) c.681+16C>A (n.681+16C>A) n.5380+16C>A | gnomAD v4 |
18 | g.23876423C= | CA2290312373 | LAMA3 | c.285+16C= (n.285+16C=) c.5112+16C= (n.5112+16C=) c.2004+16C= (n.2004+16C=) c.5139+16C= (n.5139+16C=) c.5130+16C= (n.5130+16C=) c.5121+16C= (n.5121+16C=) c.5007+16C= (n.5007+16C=) c.2991+16C= (n.2991+16C=) c.681+16C= (n.681+16C=) n.5380+16C= | |
18 | g.23876423C>T | CA8915887 | LAMA3 | c.285+16C>T (n.285+16C>T) c.5112+16C>T (n.5112+16C>T) c.2004+16C>T (n.2004+16C>T) c.5139+16C>T (n.5139+16C>T) c.5130+16C>T (n.5130+16C>T) c.5121+16C>T (n.5121+16C>T) c.5007+16C>T (n.5007+16C>T) c.2991+16C>T (n.2991+16C>T) c.681+16C>T (n.681+16C>T) n.5380+16C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23876424T>G | CA2576472630 | LAMA3 | c.285+17T>G (n.285+17T>G) c.5112+17T>G (n.5112+17T>G) c.2004+17T>G (n.2004+17T>G) c.5139+17T>G (n.5139+17T>G) c.5130+17T>G (n.5130+17T>G) c.5121+17T>G (n.5121+17T>G) c.5007+17T>G (n.5007+17T>G) c.2991+17T>G (n.2991+17T>G) c.681+17T>G (n.681+17T>G) n.5380+17T>G | gnomAD v4 |
18 | g.23876426T>A | CA2576472631 | LAMA3 | c.285+19T>A (n.285+19T>A) c.5112+19T>A (n.5112+19T>A) c.2004+19T>A (n.2004+19T>A) c.5139+19T>A (n.5139+19T>A) c.5130+19T>A (n.5130+19T>A) c.5121+19T>A (n.5121+19T>A) c.5007+19T>A (n.5007+19T>A) c.2991+19T>A (n.2991+19T>A) c.681+19T>A (n.681+19T>A) n.5380+19T>A | gnomAD v4 |
18 | g.23876426T>C | CA628681727 | LAMA3 | c.285+19T>C (n.285+19T>C) c.5112+19T>C (n.5112+19T>C) c.2004+19T>C (n.2004+19T>C) c.5139+19T>C (n.5139+19T>C) c.5130+19T>C (n.5130+19T>C) c.5121+19T>C (n.5121+19T>C) c.5007+19T>C (n.5007+19T>C) c.2991+19T>C (n.2991+19T>C) c.681+19T>C (n.681+19T>C) n.5380+19T>C | dbSNP gnomAD v2 gnomAD v4 |
18 | g.23876426T= | CA2290312374 | LAMA3 | c.285+19T= (n.285+19T=) c.5112+19T= (n.5112+19T=) c.2004+19T= (n.2004+19T=) c.5139+19T= (n.5139+19T=) c.5130+19T= (n.5130+19T=) c.5121+19T= (n.5121+19T=) c.5007+19T= (n.5007+19T=) c.2991+19T= (n.2991+19T=) c.681+19T= (n.681+19T=) n.5380+19T= | |
18 | g.23876427A>G | CA2811822083 | LAMA3 | c.285+20A>G (n.285+20A>G) c.5112+20A>G (n.5112+20A>G) c.2004+20A>G (n.2004+20A>G) c.5139+20A>G (n.5139+20A>G) c.5130+20A>G (n.5130+20A>G) c.5121+20A>G (n.5121+20A>G) c.5007+20A>G (n.5007+20A>G) c.2991+20A>G (n.2991+20A>G) c.681+20A>G (n.681+20A>G) n.5380+20A>G | |
18 | g.23876429T>C | CA988419557 | LAMA3 | c.285+22T>C (n.285+22T>C) c.5112+22T>C (n.5112+22T>C) c.2004+22T>C (n.2004+22T>C) c.5139+22T>C (n.5139+22T>C) c.5130+22T>C (n.5130+22T>C) c.5121+22T>C (n.5121+22T>C) c.5007+22T>C (n.5007+22T>C) c.2991+22T>C (n.2991+22T>C) c.681+22T>C (n.681+22T>C) n.5380+22T>C | dbSNP gnomAD v3 gnomAD v4 |
18 | g.23876429T= | CA2290312375 | LAMA3 | c.285+22T= (n.285+22T=) c.5112+22T= (n.5112+22T=) c.2004+22T= (n.2004+22T=) c.5139+22T= (n.5139+22T=) c.5130+22T= (n.5130+22T=) c.5121+22T= (n.5121+22T=) c.5007+22T= (n.5007+22T=) c.2991+22T= (n.2991+22T=) c.681+22T= (n.681+22T=) n.5380+22T= | |
18 | g.23876430G>A | CA2641292722 | LAMA3 | c.285+23G>A (n.285+23G>A) c.5112+23G>A (n.5112+23G>A) c.2004+23G>A (n.2004+23G>A) c.5139+23G>A (n.5139+23G>A) c.5130+23G>A (n.5130+23G>A) c.5121+23G>A (n.5121+23G>A) c.5007+23G>A (n.5007+23G>A) c.2991+23G>A (n.2991+23G>A) c.681+23G>A (n.681+23G>A) n.5380+23G>A | gnomAD v4 |
18 | g.23876430G= | CA2290312376 | LAMA3 | c.285+23G= (n.285+23G=) c.5112+23G= (n.5112+23G=) c.2004+23G= (n.2004+23G=) c.5139+23G= (n.5139+23G=) c.5130+23G= (n.5130+23G=) c.5121+23G= (n.5121+23G=) c.5007+23G= (n.5007+23G=) c.2991+23G= (n.2991+23G=) c.681+23G= (n.681+23G=) n.5380+23G= | |
18 | g.23876430G>T | CA8915888 | LAMA3 | c.285+23G>T (n.285+23G>T) c.5112+23G>T (n.5112+23G>T) c.2004+23G>T (n.2004+23G>T) c.5139+23G>T (n.5139+23G>T) c.5130+23G>T (n.5130+23G>T) c.5121+23G>T (n.5121+23G>T) c.5007+23G>T (n.5007+23G>T) c.2991+23G>T (n.2991+23G>T) c.681+23G>T (n.681+23G>T) n.5380+23G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23876431C>A | CA2576472632 | LAMA3 | c.285+24C>A (n.285+24C>A) c.5112+24C>A (n.5112+24C>A) c.2004+24C>A (n.2004+24C>A) c.5139+24C>A (n.5139+24C>A) c.5130+24C>A (n.5130+24C>A) c.5121+24C>A (n.5121+24C>A) c.5007+24C>A (n.5007+24C>A) c.2991+24C>A (n.2991+24C>A) c.681+24C>A (n.681+24C>A) n.5380+24C>A | gnomAD v4 |
18 | g.23876431C= | CA2290312377 | LAMA3 | c.285+24C= (n.285+24C=) c.5112+24C= (n.5112+24C=) c.2004+24C= (n.2004+24C=) c.5139+24C= (n.5139+24C=) c.5130+24C= (n.5130+24C=) c.5121+24C= (n.5121+24C=) c.5007+24C= (n.5007+24C=) c.2991+24C= (n.2991+24C=) c.681+24C= (n.681+24C=) n.5380+24C= | |
18 | g.23876431C>T | CA8915889 | LAMA3 | c.285+24C>T (n.285+24C>T) c.5112+24C>T (n.5112+24C>T) c.2004+24C>T (n.2004+24C>T) c.5139+24C>T (n.5139+24C>T) c.5130+24C>T (n.5130+24C>T) c.5121+24C>T (n.5121+24C>T) c.5007+24C>T (n.5007+24C>T) c.2991+24C>T (n.2991+24C>T) c.681+24C>T (n.681+24C>T) n.5380+24C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23876432T>A | CA2576472633 | LAMA3 | c.285+25T>A (n.285+25T>A) c.5112+25T>A (n.5112+25T>A) c.2004+25T>A (n.2004+25T>A) c.5139+25T>A (n.5139+25T>A) c.5130+25T>A (n.5130+25T>A) c.5121+25T>A (n.5121+25T>A) c.5007+25T>A (n.5007+25T>A) c.2991+25T>A (n.2991+25T>A) c.681+25T>A (n.681+25T>A) n.5380+25T>A | |
18 | g.23876433A= | CA2290312378 | LAMA3 | c.285+26A= (n.285+26A=) c.5112+26A= (n.5112+26A=) c.2004+26A= (n.2004+26A=) c.5139+26A= (n.5139+26A=) c.5130+26A= (n.5130+26A=) c.5121+26A= (n.5121+26A=) c.5007+26A= (n.5007+26A=) c.2991+26A= (n.2991+26A=) c.681+26A= (n.681+26A=) n.5380+26A= | |
18 | g.23876433A>G | CA8915890 | LAMA3 | c.285+26A>G (n.285+26A>G) c.5112+26A>G (n.5112+26A>G) c.2004+26A>G (n.2004+26A>G) c.5139+26A>G (n.5139+26A>G) c.5130+26A>G (n.5130+26A>G) c.5121+26A>G (n.5121+26A>G) c.5007+26A>G (n.5007+26A>G) c.2991+26A>G (n.2991+26A>G) c.681+26A>G (n.681+26A>G) n.5380+26A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23876435C>A | CA2576472634 | LAMA3 | c.285+28C>A (n.285+28C>A) c.5112+28C>A (n.5112+28C>A) c.2004+28C>A (n.2004+28C>A) c.5139+28C>A (n.5139+28C>A) c.5130+28C>A (n.5130+28C>A) c.5121+28C>A (n.5121+28C>A) c.5007+28C>A (n.5007+28C>A) c.2991+28C>A (n.2991+28C>A) c.681+28C>A (n.681+28C>A) n.5380+28C>A | gnomAD v4 |
18 | g.23876435C= | CA2290312379 | LAMA3 | c.285+28C= (n.285+28C=) c.5112+28C= (n.5112+28C=) c.2004+28C= (n.2004+28C=) c.5139+28C= (n.5139+28C=) c.5130+28C= (n.5130+28C=) c.5121+28C= (n.5121+28C=) c.5007+28C= (n.5007+28C=) c.2991+28C= (n.2991+28C=) c.681+28C= (n.681+28C=) n.5380+28C= | |
18 | g.23876435C>G | CA988419559 | LAMA3 | c.285+28C>G (n.285+28C>G) c.5112+28C>G (n.5112+28C>G) c.2004+28C>G (n.2004+28C>G) c.5139+28C>G (n.5139+28C>G) c.5130+28C>G (n.5130+28C>G) c.5121+28C>G (n.5121+28C>G) c.5007+28C>G (n.5007+28C>G) c.2991+28C>G (n.2991+28C>G) c.681+28C>G (n.681+28C>G) n.5380+28C>G | dbSNP gnomAD v3 gnomAD v4 |
18 | g.23876436A>G | CA2576472635 | LAMA3 | c.285+29A>G (n.285+29A>G) c.5112+29A>G (n.5112+29A>G) c.2004+29A>G (n.2004+29A>G) c.5139+29A>G (n.5139+29A>G) c.5130+29A>G (n.5130+29A>G) c.5121+29A>G (n.5121+29A>G) c.5007+29A>G (n.5007+29A>G) c.2991+29A>G (n.2991+29A>G) c.681+29A>G (n.681+29A>G) n.5380+29A>G | gnomAD v4 |
18 | g.23876437G>A | CA2641292723 | LAMA3 | c.285+30G>A (n.285+30G>A) c.5112+30G>A (n.5112+30G>A) c.2004+30G>A (n.2004+30G>A) c.5139+30G>A (n.5139+30G>A) c.5130+30G>A (n.5130+30G>A) c.5121+30G>A (n.5121+30G>A) c.5007+30G>A (n.5007+30G>A) c.2991+30G>A (n.2991+30G>A) c.681+30G>A (n.681+30G>A) n.5380+30G>A | gnomAD v4 |
18 | g.23876437G>C | CA8915891 | LAMA3 | c.285+30G>C (n.285+30G>C) c.5112+30G>C (n.5112+30G>C) c.2004+30G>C (n.2004+30G>C) c.5139+30G>C (n.5139+30G>C) c.5130+30G>C (n.5130+30G>C) c.5121+30G>C (n.5121+30G>C) c.5007+30G>C (n.5007+30G>C) c.2991+30G>C (n.2991+30G>C) c.681+30G>C (n.681+30G>C) n.5380+30G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23876437G= | CA2290312380 | LAMA3 | c.285+30G= (n.285+30G=) c.5112+30G= (n.5112+30G=) c.2004+30G= (n.2004+30G=) c.5139+30G= (n.5139+30G=) c.5130+30G= (n.5130+30G=) c.5121+30G= (n.5121+30G=) c.5007+30G= (n.5007+30G=) c.2991+30G= (n.2991+30G=) c.681+30G= (n.681+30G=) n.5380+30G= | |
18 | g.23876438C>A | CA2576472636 | LAMA3 | c.285+31C>A (n.285+31C>A) c.5112+31C>A (n.5112+31C>A) c.2004+31C>A (n.2004+31C>A) c.5139+31C>A (n.5139+31C>A) c.5130+31C>A (n.5130+31C>A) c.5121+31C>A (n.5121+31C>A) c.5007+31C>A (n.5007+31C>A) c.2991+31C>A (n.2991+31C>A) c.681+31C>A (n.681+31C>A) n.5380+31C>A | gnomAD v4 |
18 | g.23876438C= | CA2290312381 | LAMA3 | c.285+31C= (n.285+31C=) c.5112+31C= (n.5112+31C=) c.2004+31C= (n.2004+31C=) c.5139+31C= (n.5139+31C=) c.5130+31C= (n.5130+31C=) c.5121+31C= (n.5121+31C=) c.5007+31C= (n.5007+31C=) c.2991+31C= (n.2991+31C=) c.681+31C= (n.681+31C=) n.5380+31C= | |
18 | g.23876438C>T | CA628681842 | LAMA3 | c.285+31C>T (n.285+31C>T) c.5112+31C>T (n.5112+31C>T) c.2004+31C>T (n.2004+31C>T) c.5139+31C>T (n.5139+31C>T) c.5130+31C>T (n.5130+31C>T) c.5121+31C>T (n.5121+31C>T) c.5007+31C>T (n.5007+31C>T) c.2991+31C>T (n.2991+31C>T) c.681+31C>T (n.681+31C>T) n.5380+31C>T | dbSNP gnomAD v2 gnomAD v4 |
18 | g.23876442C>A | CA2576472637 | LAMA3 | c.285+35C>A (n.285+35C>A) c.5112+35C>A (n.5112+35C>A) c.2004+35C>A (n.2004+35C>A) c.5139+35C>A (n.5139+35C>A) c.5130+35C>A (n.5130+35C>A) c.5121+35C>A (n.5121+35C>A) c.5007+35C>A (n.5007+35C>A) c.2991+35C>A (n.2991+35C>A) c.681+35C>A (n.681+35C>A) n.5380+35C>A | gnomAD v4 |
18 | g.23876442_23876443delinsCA | CA2290312382 | LAMA3 | c.285+35_285+36delinsCA (n.285+35_285+36delinsCA) c.5112+35_5112+36delinsCA (n.5112+35_5112+36delinsCA) c.2004+35_2004+36delinsCA (n.2004+35_2004+36delinsCA) c.5139+35_5139+36delinsCA (n.5139+35_5139+36delinsCA) c.5130+35_5130+36delinsCA (n.5130+35_5130+36delinsCA) c.5121+35_5121+36delinsCA (n.5121+35_5121+36delinsCA) c.5007+35_5007+36delinsCA (n.5007+35_5007+36delinsCA) c.2991+35_2991+36delinsCA (n.2991+35_2991+36delinsCA) c.681+35_681+36delinsCA (n.681+35_681+36delinsCA) n.5380+35_5380+36delinsCA | |
18 | g.23876443A= | CA2290312383 | LAMA3 | c.285+36A= (n.285+36A=) c.5112+36A= (n.5112+36A=) c.2004+36A= (n.2004+36A=) c.5139+36A= (n.5139+36A=) c.5130+36A= (n.5130+36A=) c.5121+36A= (n.5121+36A=) c.5007+36A= (n.5007+36A=) c.2991+36A= (n.2991+36A=) c.681+36A= (n.681+36A=) n.5380+36A= | |
18 | g.23876443A>G | CA777750494 | LAMA3 | c.285+36A>G (n.285+36A>G) c.5112+36A>G (n.5112+36A>G) c.2004+36A>G (n.2004+36A>G) c.5139+36A>G (n.5139+36A>G) c.5130+36A>G (n.5130+36A>G) c.5121+36A>G (n.5121+36A>G) c.5007+36A>G (n.5007+36A>G) c.2991+36A>G (n.2991+36A>G) c.681+36A>G (n.681+36A>G) n.5380+36A>G | dbSNP gnomAD v4 |
18 | g.23876444dup | CA2811822084 | LAMA3 | c.285+37dup (n.285+37dup) c.5112+37dup (n.5112+37dup) c.2004+37dup (n.2004+37dup) c.5139+37dup (n.5139+37dup) c.5130+37dup (n.5130+37dup) c.5121+37dup (n.5121+37dup) c.5007+37dup (n.5007+37dup) c.2991+37dup (n.2991+37dup) c.681+37dup (n.681+37dup) n.5380+37dup | |
18 | g.23876444del | CA8915892 | LAMA3 | c.285+37del (n.285+37del) c.5112+37del (n.5112+37del) c.2004+37del (n.2004+37del) c.5139+37del (n.5139+37del) c.5130+37del (n.5130+37del) c.5121+37del (n.5121+37del) c.5007+37del (n.5007+37del) c.2991+37del (n.2991+37del) c.681+37del (n.681+37del) n.5380+37del | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23876444A= | CA2290312384 | LAMA3 | c.285+37A= (n.285+37A=) c.5112+37A= (n.5112+37A=) c.2004+37A= (n.2004+37A=) c.5139+37A= (n.5139+37A=) c.5130+37A= (n.5130+37A=) c.5121+37A= (n.5121+37A=) c.5007+37A= (n.5007+37A=) c.2991+37A= (n.2991+37A=) c.681+37A= (n.681+37A=) n.5380+37A= | |
18 | g.23876444A>G | CA8915893 | LAMA3 | c.285+37A>G (n.285+37A>G) c.5112+37A>G (n.5112+37A>G) c.2004+37A>G (n.2004+37A>G) c.5139+37A>G (n.5139+37A>G) c.5130+37A>G (n.5130+37A>G) c.5121+37A>G (n.5121+37A>G) c.5007+37A>G (n.5007+37A>G) c.2991+37A>G (n.2991+37A>G) c.681+37A>G (n.681+37A>G) n.5380+37A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23876445T>C | CA2641292725 | LAMA3 | c.285+38T>C (n.285+38T>C) c.5112+38T>C (n.5112+38T>C) c.2004+38T>C (n.2004+38T>C) c.5139+38T>C (n.5139+38T>C) c.5130+38T>C (n.5130+38T>C) c.5121+38T>C (n.5121+38T>C) c.5007+38T>C (n.5007+38T>C) c.2991+38T>C (n.2991+38T>C) c.681+38T>C (n.681+38T>C) n.5380+38T>C | gnomAD v4 |
18 | g.23876446C>A | CA2576472638 | LAMA3 | c.285+39C>A (n.285+39C>A) c.5112+39C>A (n.5112+39C>A) c.2004+39C>A (n.2004+39C>A) c.5139+39C>A (n.5139+39C>A) c.5130+39C>A (n.5130+39C>A) c.5121+39C>A (n.5121+39C>A) c.5007+39C>A (n.5007+39C>A) c.2991+39C>A (n.2991+39C>A) c.681+39C>A (n.681+39C>A) n.5380+39C>A | gnomAD v4 |
18 | g.23876446C= | CA2290312385 | LAMA3 | c.285+39C= (n.285+39C=) c.5112+39C= (n.5112+39C=) c.2004+39C= (n.2004+39C=) c.5139+39C= (n.5139+39C=) c.5130+39C= (n.5130+39C=) c.5121+39C= (n.5121+39C=) c.5007+39C= (n.5007+39C=) c.2991+39C= (n.2991+39C=) c.681+39C= (n.681+39C=) n.5380+39C= | |
18 | g.23876446C>T | CA777750499 | LAMA3 | c.285+39C>T (n.285+39C>T) c.5112+39C>T (n.5112+39C>T) c.2004+39C>T (n.2004+39C>T) c.5139+39C>T (n.5139+39C>T) c.5130+39C>T (n.5130+39C>T) c.5121+39C>T (n.5121+39C>T) c.5007+39C>T (n.5007+39C>T) c.2991+39C>T (n.2991+39C>T) c.681+39C>T (n.681+39C>T) n.5380+39C>T | dbSNP |
18 | g.23876447T>A | CA2641292726 | LAMA3 | c.285+40T>A (n.285+40T>A) c.5112+40T>A (n.5112+40T>A) c.2004+40T>A (n.2004+40T>A) c.5139+40T>A (n.5139+40T>A) c.5130+40T>A (n.5130+40T>A) c.5121+40T>A (n.5121+40T>A) c.5007+40T>A (n.5007+40T>A) c.2991+40T>A (n.2991+40T>A) c.681+40T>A (n.681+40T>A) n.5380+40T>A | gnomAD v4 |
18 | g.23876449T>C | CA2641292727 | LAMA3 | c.285+42T>C (n.285+42T>C) c.5112+42T>C (n.5112+42T>C) c.2004+42T>C (n.2004+42T>C) c.5139+42T>C (n.5139+42T>C) c.5130+42T>C (n.5130+42T>C) c.5121+42T>C (n.5121+42T>C) c.5007+42T>C (n.5007+42T>C) c.2991+42T>C (n.2991+42T>C) c.681+42T>C (n.681+42T>C) n.5380+42T>C | gnomAD v4 |
18 | g.23876451T>C | CA297091429 | LAMA3 | c.285+44T>C (n.285+44T>C) c.5112+44T>C (n.5112+44T>C) c.2004+44T>C (n.2004+44T>C) c.5139+44T>C (n.5139+44T>C) c.5130+44T>C (n.5130+44T>C) c.5121+44T>C (n.5121+44T>C) c.5007+44T>C (n.5007+44T>C) c.2991+44T>C (n.2991+44T>C) c.681+44T>C (n.681+44T>C) n.5380+44T>C | dbSNP |
18 | g.23876451T= | CA2290312386 | LAMA3 | c.285+44T= (n.285+44T=) c.5112+44T= (n.5112+44T=) c.2004+44T= (n.2004+44T=) c.5139+44T= (n.5139+44T=) c.5130+44T= (n.5130+44T=) c.5121+44T= (n.5121+44T=) c.5007+44T= (n.5007+44T=) c.2991+44T= (n.2991+44T=) c.681+44T= (n.681+44T=) n.5380+44T= | |
18 | g.23876452C>A | CA2576472639 | LAMA3 | c.285+45C>A (n.285+45C>A) c.5112+45C>A (n.5112+45C>A) c.2004+45C>A (n.2004+45C>A) c.5139+45C>A (n.5139+45C>A) c.5130+45C>A (n.5130+45C>A) c.5121+45C>A (n.5121+45C>A) c.5007+45C>A (n.5007+45C>A) c.2991+45C>A (n.2991+45C>A) c.681+45C>A (n.681+45C>A) n.5380+45C>A | gnomAD v4 |
18 | g.23876452C= | CA2290312387 | LAMA3 | c.285+45C= (n.285+45C=) c.5112+45C= (n.5112+45C=) c.2004+45C= (n.2004+45C=) c.5139+45C= (n.5139+45C=) c.5130+45C= (n.5130+45C=) c.5121+45C= (n.5121+45C=) c.5007+45C= (n.5007+45C=) c.2991+45C= (n.2991+45C=) c.681+45C= (n.681+45C=) n.5380+45C= | |
18 | g.23876452C>T | CA8915894 | LAMA3 | c.285+45C>T (n.285+45C>T) c.5112+45C>T (n.5112+45C>T) c.2004+45C>T (n.2004+45C>T) c.5139+45C>T (n.5139+45C>T) c.5130+45C>T (n.5130+45C>T) c.5121+45C>T (n.5121+45C>T) c.5007+45C>T (n.5007+45C>T) c.2991+45C>T (n.2991+45C>T) c.681+45C>T (n.681+45C>T) n.5380+45C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23876454C>A | CA2576472640 | LAMA3 | c.285+47C>A (n.285+47C>A) c.5112+47C>A (n.5112+47C>A) c.2004+47C>A (n.2004+47C>A) c.5139+47C>A (n.5139+47C>A) c.5130+47C>A (n.5130+47C>A) c.5121+47C>A (n.5121+47C>A) c.5007+47C>A (n.5007+47C>A) c.2991+47C>A (n.2991+47C>A) c.681+47C>A (n.681+47C>A) n.5380+47C>A | |
18 | g.23876455C>A | CA2576472641 | LAMA3 | c.285+48C>A (n.285+48C>A) c.5112+48C>A (n.5112+48C>A) c.2004+48C>A (n.2004+48C>A) c.5139+48C>A (n.5139+48C>A) c.5130+48C>A (n.5130+48C>A) c.5121+48C>A (n.5121+48C>A) c.5007+48C>A (n.5007+48C>A) c.2991+48C>A (n.2991+48C>A) c.681+48C>A (n.681+48C>A) n.5380+48C>A | |
18 | g.23876455C= | CA2290312388 | LAMA3 | c.285+48C= (n.285+48C=) c.5112+48C= (n.5112+48C=) c.2004+48C= (n.2004+48C=) c.5139+48C= (n.5139+48C=) c.5130+48C= (n.5130+48C=) c.5121+48C= (n.5121+48C=) c.5007+48C= (n.5007+48C=) c.2991+48C= (n.2991+48C=) c.681+48C= (n.681+48C=) n.5380+48C= | |
18 | g.23876455C>T | CA777750511 | LAMA3 | c.285+48C>T (n.285+48C>T) c.5112+48C>T (n.5112+48C>T) c.2004+48C>T (n.2004+48C>T) c.5139+48C>T (n.5139+48C>T) c.5130+48C>T (n.5130+48C>T) c.5121+48C>T (n.5121+48C>T) c.5007+48C>T (n.5007+48C>T) c.2991+48C>T (n.2991+48C>T) c.681+48C>T (n.681+48C>T) n.5380+48C>T | dbSNP gnomAD v3 gnomAD v4 |
18 | g.23876456T>C | CA297091430 | LAMA3 | c.285+49T>C (n.285+49T>C) c.5112+49T>C (n.5112+49T>C) c.2004+49T>C (n.2004+49T>C) c.5139+49T>C (n.5139+49T>C) c.5130+49T>C (n.5130+49T>C) c.5121+49T>C (n.5121+49T>C) c.5007+49T>C (n.5007+49T>C) c.2991+49T>C (n.2991+49T>C) c.681+49T>C (n.681+49T>C) n.5380+49T>C | dbSNP gnomAD v2 gnomAD v4 |
18 | g.23876456T= | CA2290312389 | LAMA3 | c.285+49T= (n.285+49T=) c.5112+49T= (n.5112+49T=) c.2004+49T= (n.2004+49T=) c.5139+49T= (n.5139+49T=) c.5130+49T= (n.5130+49T=) c.5121+49T= (n.5121+49T=) c.5007+49T= (n.5007+49T=) c.2991+49T= (n.2991+49T=) c.681+49T= (n.681+49T=) n.5380+49T= | |
18 | g.23876457C>T | CA503328002 | LAMA3 | c.285+50C>T (n.285+50C>T) c.5112+50C>T (n.5112+50C>T) c.2004+50C>T (n.2004+50C>T) c.5139+50C>T (n.5139+50C>T) c.5130+50C>T (n.5130+50C>T) c.5121+50C>T (n.5121+50C>T) c.5007+50C>T (n.5007+50C>T) c.2991+50C>T (n.2991+50C>T) c.681+50C>T (n.681+50C>T) n.5380+50C>T |