Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.23876304C>A | CA402044872 | LAMA3 | c.182C>A (p.Pro61His) c.5009C>A (p.Pro1670His) c.1901C>A (p.Pro634His) c.5036C>A (p.Pro1679His) c.5027C>A (p.Pro1676His) c.5018C>A (p.Pro1673His) c.4904C>A (p.Pro1635His) c.2888C>A (p.Pro963His) c.578C>A (p.Pro193His) n.5277C>A | |
18 | g.23876304C>G | CA402044873 | LAMA3 | c.182C>G (p.Pro61Arg) c.5009C>G (p.Pro1670Arg) c.1901C>G (p.Pro634Arg) c.5036C>G (p.Pro1679Arg) c.5027C>G (p.Pro1676Arg) c.5018C>G (p.Pro1673Arg) c.4904C>G (p.Pro1635Arg) c.2888C>G (p.Pro963Arg) c.578C>G (p.Pro193Arg) n.5277C>G | |
18 | g.23876304C>T | CA402044874 | LAMA3 | c.182C>T (p.Pro61Leu) c.5009C>T (p.Pro1670Leu) c.1901C>T (p.Pro634Leu) c.5036C>T (p.Pro1679Leu) c.5027C>T (p.Pro1676Leu) c.5018C>T (p.Pro1673Leu) c.4904C>T (p.Pro1635Leu) c.2888C>T (p.Pro963Leu) c.578C>T (p.Pro193Leu) n.5277C>T | COSMIC COSMIC |
18 | g.23876305T>A | CA503327807 | LAMA3 | c.183T>A (p.Pro61=) c.5010T>A (p.Pro1670=) c.1902T>A (p.Pro634=) c.5037T>A (p.Pro1679=) c.5028T>A (p.Pro1676=) c.5019T>A (p.Pro1673=) c.4905T>A (p.Pro1635=) c.2889T>A (p.Pro963=) c.579T>A (p.Pro193=) n.5278T>A | gnomAD v4 |
18 | g.23876305T>C | CA503327809 | LAMA3 | c.183T>C (p.Pro61=) c.5010T>C (p.Pro1670=) c.1902T>C (p.Pro634=) c.5037T>C (p.Pro1679=) c.5028T>C (p.Pro1676=) c.5019T>C (p.Pro1673=) c.4905T>C (p.Pro1635=) c.2889T>C (p.Pro963=) c.579T>C (p.Pro193=) n.5278T>C | |
18 | g.23876305T>G | CA503327811 | LAMA3 | c.183T>G (p.Pro61=) c.5010T>G (p.Pro1670=) c.1902T>G (p.Pro634=) c.5037T>G (p.Pro1679=) c.5028T>G (p.Pro1676=) c.5019T>G (p.Pro1673=) c.4905T>G (p.Pro1635=) c.2889T>G (p.Pro963=) c.579T>G (p.Pro193=) n.5278T>G | |
18 | g.23876306G>A | CA297091426 | LAMA3 | c.184G>A (p.Gly62Arg) c.5011G>A (p.Gly1671Arg) c.1903G>A (p.Gly635Arg) c.5038G>A (p.Gly1680Arg) c.5029G>A (p.Gly1677Arg) c.5020G>A (p.Gly1674Arg) c.4906G>A (p.Gly1636Arg) c.2890G>A (p.Gly964Arg) c.580G>A (p.Gly194Arg) n.5279G>A | dbSNP gnomAD v3 gnomAD v4 |
18 | g.23876306G>C | CA402044875 | LAMA3 | c.184G>C (p.Gly62Arg) c.5011G>C (p.Gly1671Arg) c.1903G>C (p.Gly635Arg) c.5038G>C (p.Gly1680Arg) c.5029G>C (p.Gly1677Arg) c.5020G>C (p.Gly1674Arg) c.4906G>C (p.Gly1636Arg) c.2890G>C (p.Gly964Arg) c.580G>C (p.Gly194Arg) n.5279G>C | |
18 | g.23876306G= | CA2290312322 | LAMA3 | c.184G= (p.Gly62=) c.5011G= (p.Gly1671=) c.1903G= (p.Gly635=) c.5038G= (p.Gly1680=) c.5029G= (p.Gly1677=) c.5020G= (p.Gly1674=) c.4906G= (p.Gly1636=) c.2890G= (p.Gly964=) c.580G= (p.Gly194=) n.5279G= | |
18 | g.23876306G>T | CA402044876 | LAMA3 | c.184G>T (p.Gly62Ter) c.5011G>T (p.Gly1671Ter) c.1903G>T (p.Gly635Ter) c.5038G>T (p.Gly1680Ter) c.5029G>T (p.Gly1677Ter) c.5020G>T (p.Gly1674Ter) c.4906G>T (p.Gly1636Ter) c.2890G>T (p.Gly964Ter) c.580G>T (p.Gly194Ter) n.5279G>T | |
18 | g.23876307G>A | CA402044877 | LAMA3 | c.185G>A (p.Gly62Glu) c.5012G>A (p.Gly1671Glu) c.1904G>A (p.Gly635Glu) c.5039G>A (p.Gly1680Glu) c.5030G>A (p.Gly1677Glu) c.5021G>A (p.Gly1674Glu) c.4907G>A (p.Gly1636Glu) c.2891G>A (p.Gly964Glu) c.581G>A (p.Gly194Glu) n.5280G>A | |
18 | g.23876307G>C | CA402044878 | LAMA3 | c.185G>C (p.Gly62Ala) c.5012G>C (p.Gly1671Ala) c.1904G>C (p.Gly635Ala) c.5039G>C (p.Gly1680Ala) c.5030G>C (p.Gly1677Ala) c.5021G>C (p.Gly1674Ala) c.4907G>C (p.Gly1636Ala) c.2891G>C (p.Gly964Ala) c.581G>C (p.Gly194Ala) n.5280G>C | |
18 | g.23876307G= | CA2290312323 | LAMA3 | c.185G= (p.Gly62=) c.5012G= (p.Gly1671=) c.1904G= (p.Gly635=) c.5039G= (p.Gly1680=) c.5030G= (p.Gly1677=) c.5021G= (p.Gly1674=) c.4907G= (p.Gly1636=) c.2891G= (p.Gly964=) c.581G= (p.Gly194=) n.5280G= | |
18 | g.23876307G>T | CA8915863 | LAMA3 | c.185G>T (p.Gly62Val) c.5012G>T (p.Gly1671Val) c.1904G>T (p.Gly635Val) c.5039G>T (p.Gly1680Val) c.5030G>T (p.Gly1677Val) c.5021G>T (p.Gly1674Val) c.4907G>T (p.Gly1636Val) c.2891G>T (p.Gly964Val) c.581G>T (p.Gly194Val) n.5280G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23876308A= | CA2290312324 | LAMA3 | c.186A= (p.Gly62=) c.5013A= (p.Gly1671=) c.1905A= (p.Gly635=) c.5040A= (p.Gly1680=) c.5031A= (p.Gly1677=) c.5022A= (p.Gly1674=) c.4908A= (p.Gly1636=) c.2892A= (p.Gly964=) c.582A= (p.Gly194=) n.5281A= | |
18 | g.23876308A>C | CA503327812 | LAMA3 | c.186A>C (p.Gly62=) c.5013A>C (p.Gly1671=) c.1905A>C (p.Gly635=) c.5040A>C (p.Gly1680=) c.5031A>C (p.Gly1677=) c.5022A>C (p.Gly1674=) c.4908A>C (p.Gly1636=) c.2892A>C (p.Gly964=) c.582A>C (p.Gly194=) n.5281A>C | dbSNP |
18 | g.23876308A>G | CA503327813 | LAMA3 | c.186A>G (p.Gly62=) c.5013A>G (p.Gly1671=) c.1905A>G (p.Gly635=) c.5040A>G (p.Gly1680=) c.5031A>G (p.Gly1677=) c.5022A>G (p.Gly1674=) c.4908A>G (p.Gly1636=) c.2892A>G (p.Gly964=) c.582A>G (p.Gly194=) n.5281A>G | |
18 | g.23876308A>T | CA503327815 | LAMA3 | c.186A>T (p.Gly62=) c.5013A>T (p.Gly1671=) c.1905A>T (p.Gly635=) c.5040A>T (p.Gly1680=) c.5031A>T (p.Gly1677=) c.5022A>T (p.Gly1674=) c.4908A>T (p.Gly1636=) c.2892A>T (p.Gly964=) c.582A>T (p.Gly194=) n.5281A>T | |
18 | g.23876309T>A | CA402044879 | LAMA3 | c.187T>A (p.Tyr63Asn) c.5014T>A (p.Tyr1672Asn) c.1906T>A (p.Tyr636Asn) c.5041T>A (p.Tyr1681Asn) c.5032T>A (p.Tyr1678Asn) c.5023T>A (p.Tyr1675Asn) c.4909T>A (p.Tyr1637Asn) c.2893T>A (p.Tyr965Asn) c.583T>A (p.Tyr195Asn) n.5282T>A | |
18 | g.23876309T>C | CA402044880 | LAMA3 | c.187T>C (p.Tyr63His) c.5014T>C (p.Tyr1672His) c.1906T>C (p.Tyr636His) c.5041T>C (p.Tyr1681His) c.5032T>C (p.Tyr1678His) c.5023T>C (p.Tyr1675His) c.4909T>C (p.Tyr1637His) c.2893T>C (p.Tyr965His) c.583T>C (p.Tyr195His) n.5282T>C | |
18 | g.23876309T>G | CA402044881 | LAMA3 | c.187T>G (p.Tyr63Asp) c.5014T>G (p.Tyr1672Asp) c.1906T>G (p.Tyr636Asp) c.5041T>G (p.Tyr1681Asp) c.5032T>G (p.Tyr1678Asp) c.5023T>G (p.Tyr1675Asp) c.4909T>G (p.Tyr1637Asp) c.2893T>G (p.Tyr965Asp) c.583T>G (p.Tyr195Asp) n.5282T>G | |
18 | g.23876310A= | CA2290312325 | LAMA3 | c.188A= (p.Tyr63=) c.5015A= (p.Tyr1672=) c.1907A= (p.Tyr636=) c.5042A= (p.Tyr1681=) c.5033A= (p.Tyr1678=) c.5024A= (p.Tyr1675=) c.4910A= (p.Tyr1637=) c.2894A= (p.Tyr965=) c.584A= (p.Tyr195=) n.5283A= | |
18 | g.23876310A>C | CA402044884 | LAMA3 | c.188A>C (p.Tyr63Ser) c.5015A>C (p.Tyr1672Ser) c.1907A>C (p.Tyr636Ser) c.5042A>C (p.Tyr1681Ser) c.5033A>C (p.Tyr1678Ser) c.5024A>C (p.Tyr1675Ser) c.4910A>C (p.Tyr1637Ser) c.2894A>C (p.Tyr965Ser) c.584A>C (p.Tyr195Ser) n.5283A>C | |
18 | g.23876310A>G | CA402044882 | LAMA3 | c.188A>G (p.Tyr63Cys) c.5015A>G (p.Tyr1672Cys) c.1907A>G (p.Tyr636Cys) c.5042A>G (p.Tyr1681Cys) c.5033A>G (p.Tyr1678Cys) c.5024A>G (p.Tyr1675Cys) c.4910A>G (p.Tyr1637Cys) c.2894A>G (p.Tyr965Cys) c.584A>G (p.Tyr195Cys) n.5283A>G | dbSNP gnomAD v2 gnomAD v4 |
18 | g.23876310A>T | CA402044883 | LAMA3 | c.188A>T (p.Tyr63Phe) c.5015A>T (p.Tyr1672Phe) c.1907A>T (p.Tyr636Phe) c.5042A>T (p.Tyr1681Phe) c.5033A>T (p.Tyr1678Phe) c.5024A>T (p.Tyr1675Phe) c.4910A>T (p.Tyr1637Phe) c.2894A>T (p.Tyr965Phe) c.584A>T (p.Tyr195Phe) n.5283A>T | |
18 | g.23876311C>A | CA402044885 | LAMA3 | c.189C>A (p.Tyr63Ter) c.5016C>A (p.Tyr1672Ter) c.1908C>A (p.Tyr636Ter) c.5043C>A (p.Tyr1681Ter) c.5034C>A (p.Tyr1678Ter) c.5025C>A (p.Tyr1675Ter) c.4911C>A (p.Tyr1637Ter) c.2895C>A (p.Tyr965Ter) c.585C>A (p.Tyr195Ter) n.5284C>A | ClinVar dbSNP |
18 | g.23876311C= | CA2290312326 | LAMA3 | c.189C= (p.Tyr63=) c.5016C= (p.Tyr1672=) c.1908C= (p.Tyr636=) c.5043C= (p.Tyr1681=) c.5034C= (p.Tyr1678=) c.5025C= (p.Tyr1675=) c.4911C= (p.Tyr1637=) c.2895C= (p.Tyr965=) c.585C= (p.Tyr195=) n.5284C= | |
18 | g.23876311C>G | CA402044886 | LAMA3 | c.189C>G (p.Tyr63Ter) c.5016C>G (p.Tyr1672Ter) c.1908C>G (p.Tyr636Ter) c.5043C>G (p.Tyr1681Ter) c.5034C>G (p.Tyr1678Ter) c.5025C>G (p.Tyr1675Ter) c.4911C>G (p.Tyr1637Ter) c.2895C>G (p.Tyr965Ter) c.585C>G (p.Tyr195Ter) n.5284C>G | |
18 | g.23876311C>T | CA503327818 | LAMA3 | c.189C>T (p.Tyr63=) c.5016C>T (p.Tyr1672=) c.1908C>T (p.Tyr636=) c.5043C>T (p.Tyr1681=) c.5034C>T (p.Tyr1678=) c.5025C>T (p.Tyr1675=) c.4911C>T (p.Tyr1637=) c.2895C>T (p.Tyr965=) c.585C>T (p.Tyr195=) n.5284C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.23876312T>A | CA402044887 | LAMA3 | c.190T>A (p.Tyr64Asn) c.5017T>A (p.Tyr1673Asn) c.1909T>A (p.Tyr637Asn) c.5044T>A (p.Tyr1682Asn) c.5035T>A (p.Tyr1679Asn) c.5026T>A (p.Tyr1676Asn) c.4912T>A (p.Tyr1638Asn) c.2896T>A (p.Tyr966Asn) c.586T>A (p.Tyr196Asn) n.5285T>A | |
18 | g.23876312T>C | CA402044888 | LAMA3 | c.190T>C (p.Tyr64His) c.5017T>C (p.Tyr1673His) c.1909T>C (p.Tyr637His) c.5044T>C (p.Tyr1682His) c.5035T>C (p.Tyr1679His) c.5026T>C (p.Tyr1676His) c.4912T>C (p.Tyr1638His) c.2896T>C (p.Tyr966His) c.586T>C (p.Tyr196His) n.5285T>C | dbSNP gnomAD v2 gnomAD v4 |
18 | g.23876312T>G | CA402044889 | LAMA3 | c.190T>G (p.Tyr64Asp) c.5017T>G (p.Tyr1673Asp) c.1909T>G (p.Tyr637Asp) c.5044T>G (p.Tyr1682Asp) c.5035T>G (p.Tyr1679Asp) c.5026T>G (p.Tyr1676Asp) c.4912T>G (p.Tyr1638Asp) c.2896T>G (p.Tyr966Asp) c.586T>G (p.Tyr196Asp) n.5285T>G | |
18 | g.23876312T= | CA2290312327 | LAMA3 | c.190T= (p.Tyr64=) c.5017T= (p.Tyr1673=) c.1909T= (p.Tyr637=) c.5044T= (p.Tyr1682=) c.5035T= (p.Tyr1679=) c.5026T= (p.Tyr1676=) c.4912T= (p.Tyr1638=) c.2896T= (p.Tyr966=) c.586T= (p.Tyr196=) n.5285T= | |
18 | g.23876313A= | CA2290312328 | LAMA3 | c.191A= (p.Tyr64=) c.5018A= (p.Tyr1673=) c.1910A= (p.Tyr637=) c.5045A= (p.Tyr1682=) c.5036A= (p.Tyr1679=) c.5027A= (p.Tyr1676=) c.4913A= (p.Tyr1638=) c.2897A= (p.Tyr966=) c.587A= (p.Tyr196=) n.5286A= | |
18 | g.23876313A>C | CA402044890 | LAMA3 | c.191A>C (p.Tyr64Ser) c.5018A>C (p.Tyr1673Ser) c.1910A>C (p.Tyr637Ser) c.5045A>C (p.Tyr1682Ser) c.5036A>C (p.Tyr1679Ser) c.5027A>C (p.Tyr1676Ser) c.4913A>C (p.Tyr1638Ser) c.2897A>C (p.Tyr966Ser) c.587A>C (p.Tyr196Ser) n.5286A>C | |
18 | g.23876313A>G | CA8915864 | LAMA3 | c.191A>G (p.Tyr64Cys) c.5018A>G (p.Tyr1673Cys) c.1910A>G (p.Tyr637Cys) c.5045A>G (p.Tyr1682Cys) c.5036A>G (p.Tyr1679Cys) c.5027A>G (p.Tyr1676Cys) c.4913A>G (p.Tyr1638Cys) c.2897A>G (p.Tyr966Cys) c.587A>G (p.Tyr196Cys) n.5286A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23876313A>T | CA402044891 | LAMA3 | c.191A>T (p.Tyr64Phe) c.5018A>T (p.Tyr1673Phe) c.1910A>T (p.Tyr637Phe) c.5045A>T (p.Tyr1682Phe) c.5036A>T (p.Tyr1679Phe) c.5027A>T (p.Tyr1676Phe) c.4913A>T (p.Tyr1638Phe) c.2897A>T (p.Tyr966Phe) c.587A>T (p.Tyr196Phe) n.5286A>T | |
18 | g.23876314T>A | CA402044892 | LAMA3 | c.192T>A (p.Tyr64Ter) c.5019T>A (p.Tyr1673Ter) c.1911T>A (p.Tyr637Ter) c.5046T>A (p.Tyr1682Ter) c.5037T>A (p.Tyr1679Ter) c.5028T>A (p.Tyr1676Ter) c.4914T>A (p.Tyr1638Ter) c.2898T>A (p.Tyr966Ter) c.588T>A (p.Tyr196Ter) n.5287T>A | |
18 | g.23876314T>C | CA503327823 | LAMA3 | c.192T>C (p.Tyr64=) c.5019T>C (p.Tyr1673=) c.1911T>C (p.Tyr637=) c.5046T>C (p.Tyr1682=) c.5037T>C (p.Tyr1679=) c.5028T>C (p.Tyr1676=) c.4914T>C (p.Tyr1638=) c.2898T>C (p.Tyr966=) c.588T>C (p.Tyr196=) n.5287T>C | |
18 | g.23876314T>G | CA402044893 | LAMA3 | c.192T>G (p.Tyr64Ter) c.5019T>G (p.Tyr1673Ter) c.1911T>G (p.Tyr637Ter) c.5046T>G (p.Tyr1682Ter) c.5037T>G (p.Tyr1679Ter) c.5028T>G (p.Tyr1676Ter) c.4914T>G (p.Tyr1638Ter) c.2898T>G (p.Tyr966Ter) c.588T>G (p.Tyr196Ter) n.5287T>G | |
18 | g.23876315C>A | CA503327825 | LAMA3 | c.193C>A (p.Arg65=) c.5020C>A (p.Arg1674=) c.1912C>A (p.Arg638=) c.5047C>A (p.Arg1683=) c.5038C>A (p.Arg1680=) c.5029C>A (p.Arg1677=) c.4915C>A (p.Arg1639=) c.2899C>A (p.Arg967=) c.589C>A (p.Arg197=) n.5288C>A | dbSNP |
18 | g.23876315C= | CA2290312329 | LAMA3 | c.193C= (p.Arg65=) c.5020C= (p.Arg1674=) c.1912C= (p.Arg638=) c.5047C= (p.Arg1683=) c.5038C= (p.Arg1680=) c.5029C= (p.Arg1677=) c.4915C= (p.Arg1639=) c.2899C= (p.Arg967=) c.589C= (p.Arg197=) n.5288C= | |
18 | g.23876315C>G | CA402044894 | LAMA3 | c.193C>G (p.Arg65Gly) c.5020C>G (p.Arg1674Gly) c.1912C>G (p.Arg638Gly) c.5047C>G (p.Arg1683Gly) c.5038C>G (p.Arg1680Gly) c.5029C>G (p.Arg1677Gly) c.4915C>G (p.Arg1639Gly) c.2899C>G (p.Arg967Gly) c.589C>G (p.Arg197Gly) n.5288C>G | |
18 | g.23876315C>T | CA8915865 | LAMA3 | c.193C>T (p.Arg65Trp) c.5020C>T (p.Arg1674Trp) c.1912C>T (p.Arg638Trp) c.5047C>T (p.Arg1683Trp) c.5038C>T (p.Arg1680Trp) c.5029C>T (p.Arg1677Trp) c.4915C>T (p.Arg1639Trp) c.2899C>T (p.Arg967Trp) c.589C>T (p.Arg197Trp) n.5288C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23876316G>A | CA8915866 | LAMA3 | c.194G>A (p.Arg65Gln) c.5021G>A (p.Arg1674Gln) c.1913G>A (p.Arg638Gln) c.5048G>A (p.Arg1683Gln) c.5039G>A (p.Arg1680Gln) c.5030G>A (p.Arg1677Gln) c.4916G>A (p.Arg1639Gln) c.2900G>A (p.Arg967Gln) c.590G>A (p.Arg197Gln) n.5289G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23876316G>C | CA402044896 | LAMA3 | c.194G>C (p.Arg65Pro) c.5021G>C (p.Arg1674Pro) c.1913G>C (p.Arg638Pro) c.5048G>C (p.Arg1683Pro) c.5039G>C (p.Arg1680Pro) c.5030G>C (p.Arg1677Pro) c.4916G>C (p.Arg1639Pro) c.2900G>C (p.Arg967Pro) c.590G>C (p.Arg197Pro) n.5289G>C | gnomAD v4 |
18 | g.23876316G= | CA2290312330 | LAMA3 | c.194G= (p.Arg65=) c.5021G= (p.Arg1674=) c.1913G= (p.Arg638=) c.5048G= (p.Arg1683=) c.5039G= (p.Arg1680=) c.5030G= (p.Arg1677=) c.4916G= (p.Arg1639=) c.2900G= (p.Arg967=) c.590G= (p.Arg197=) n.5289G= | |
18 | g.23876316G>T | CA402044895 | LAMA3 | c.194G>T (p.Arg65Leu) c.5021G>T (p.Arg1674Leu) c.1913G>T (p.Arg638Leu) c.5048G>T (p.Arg1683Leu) c.5039G>T (p.Arg1680Leu) c.5030G>T (p.Arg1677Leu) c.4916G>T (p.Arg1639Leu) c.2900G>T (p.Arg967Leu) c.590G>T (p.Arg197Leu) n.5289G>T | |
18 | g.23876317G>A | CA503327826 | LAMA3 | c.195G>A (p.Arg65=) c.5022G>A (p.Arg1674=) c.1914G>A (p.Arg638=) c.5049G>A (p.Arg1683=) c.5040G>A (p.Arg1680=) c.5031G>A (p.Arg1677=) c.4917G>A (p.Arg1639=) c.2901G>A (p.Arg967=) c.591G>A (p.Arg197=) n.5290G>A | dbSNP |
18 | g.23876317G>C | CA503327827 | LAMA3 | c.195G>C (p.Arg65=) c.5022G>C (p.Arg1674=) c.1914G>C (p.Arg638=) c.5049G>C (p.Arg1683=) c.5040G>C (p.Arg1680=) c.5031G>C (p.Arg1677=) c.4917G>C (p.Arg1639=) c.2901G>C (p.Arg967=) c.591G>C (p.Arg197=) n.5290G>C | |
18 | g.23876317G= | CA2290312331 | LAMA3 | c.195G= (p.Arg65=) c.5022G= (p.Arg1674=) c.1914G= (p.Arg638=) c.5049G= (p.Arg1683=) c.5040G= (p.Arg1680=) c.5031G= (p.Arg1677=) c.4917G= (p.Arg1639=) c.2901G= (p.Arg967=) c.591G= (p.Arg197=) n.5290G= | |
18 | g.23876317G>T | CA503327830 | LAMA3 | c.195G>T (p.Arg65=) c.5022G>T (p.Arg1674=) c.1914G>T (p.Arg638=) c.5049G>T (p.Arg1683=) c.5040G>T (p.Arg1680=) c.5031G>T (p.Arg1677=) c.4917G>T (p.Arg1639=) c.2901G>T (p.Arg967=) c.591G>T (p.Arg197=) n.5290G>T | |
18 | g.23876318G>A | CA402044899 | LAMA3 | c.196G>A (p.Asp66Asn) c.5023G>A (p.Asp1675Asn) c.1915G>A (p.Asp639Asn) c.5050G>A (p.Asp1684Asn) c.5041G>A (p.Asp1681Asn) c.5032G>A (p.Asp1678Asn) c.4918G>A (p.Asp1640Asn) c.2902G>A (p.Asp968Asn) c.592G>A (p.Asp198Asn) n.5291G>A | gnomAD v4 |
18 | g.23876318G>C | CA402044897 | LAMA3 | c.196G>C (p.Asp66His) c.5023G>C (p.Asp1675His) c.1915G>C (p.Asp639His) c.5050G>C (p.Asp1684His) c.5041G>C (p.Asp1681His) c.5032G>C (p.Asp1678His) c.4918G>C (p.Asp1640His) c.2902G>C (p.Asp968His) c.592G>C (p.Asp198His) n.5291G>C | |
18 | g.23876318G>T | CA402044898 | LAMA3 | c.196G>T (p.Asp66Tyr) c.5023G>T (p.Asp1675Tyr) c.1915G>T (p.Asp639Tyr) c.5050G>T (p.Asp1684Tyr) c.5041G>T (p.Asp1681Tyr) c.5032G>T (p.Asp1678Tyr) c.4918G>T (p.Asp1640Tyr) c.2902G>T (p.Asp968Tyr) c.592G>T (p.Asp198Tyr) n.5291G>T | gnomAD v4 |
18 | g.23876319A= | CA2290312332 | LAMA3 | c.197A= (p.Asp66=) c.5024A= (p.Asp1675=) c.1916A= (p.Asp639=) c.5051A= (p.Asp1684=) c.5042A= (p.Asp1681=) c.5033A= (p.Asp1678=) c.4919A= (p.Asp1640=) c.2903A= (p.Asp968=) c.593A= (p.Asp198=) n.5292A= | |
18 | g.23876319A>C | CA402044900 | LAMA3 | c.197A>C (p.Asp66Ala) c.5024A>C (p.Asp1675Ala) c.1916A>C (p.Asp639Ala) c.5051A>C (p.Asp1684Ala) c.5042A>C (p.Asp1681Ala) c.5033A>C (p.Asp1678Ala) c.4919A>C (p.Asp1640Ala) c.2903A>C (p.Asp968Ala) c.593A>C (p.Asp198Ala) n.5292A>C | |
18 | g.23876319A>G | CA402044901 | LAMA3 | c.197A>G (p.Asp66Gly) c.5024A>G (p.Asp1675Gly) c.1916A>G (p.Asp639Gly) c.5051A>G (p.Asp1684Gly) c.5042A>G (p.Asp1681Gly) c.5033A>G (p.Asp1678Gly) c.4919A>G (p.Asp1640Gly) c.2903A>G (p.Asp968Gly) c.593A>G (p.Asp198Gly) n.5292A>G | dbSNP gnomAD v3 gnomAD v4 |
18 | g.23876319A>T | CA402044902 | LAMA3 | c.197A>T (p.Asp66Val) c.5024A>T (p.Asp1675Val) c.1916A>T (p.Asp639Val) c.5051A>T (p.Asp1684Val) c.5042A>T (p.Asp1681Val) c.5033A>T (p.Asp1678Val) c.4919A>T (p.Asp1640Val) c.2903A>T (p.Asp968Val) c.593A>T (p.Asp198Val) n.5292A>T | gnomAD v4 |
18 | g.23876320T>A | CA402044903 | LAMA3 | c.198T>A (p.Asp66Glu) c.5025T>A (p.Asp1675Glu) c.1917T>A (p.Asp639Glu) c.5052T>A (p.Asp1684Glu) c.5043T>A (p.Asp1681Glu) c.5034T>A (p.Asp1678Glu) c.4920T>A (p.Asp1640Glu) c.2904T>A (p.Asp968Glu) c.594T>A (p.Asp198Glu) n.5293T>A | |
18 | g.23876320T>C | CA503327834 | LAMA3 | c.198T>C (p.Asp66=) c.5025T>C (p.Asp1675=) c.1917T>C (p.Asp639=) c.5052T>C (p.Asp1684=) c.5043T>C (p.Asp1681=) c.5034T>C (p.Asp1678=) c.4920T>C (p.Asp1640=) c.2904T>C (p.Asp968=) c.594T>C (p.Asp198=) n.5293T>C | |
18 | g.23876320T>G | CA402044904 | LAMA3 | c.198T>G (p.Asp66Glu) c.5025T>G (p.Asp1675Glu) c.1917T>G (p.Asp639Glu) c.5052T>G (p.Asp1684Glu) c.5043T>G (p.Asp1681Glu) c.5034T>G (p.Asp1678Glu) c.4920T>G (p.Asp1640Glu) c.2904T>G (p.Asp968Glu) c.594T>G (p.Asp198Glu) n.5293T>G | |
18 | g.23876321C>A | CA402044905 | LAMA3 | c.199C>A (p.His67Asn) c.5026C>A (p.His1676Asn) c.1918C>A (p.His640Asn) c.5053C>A (p.His1685Asn) c.5044C>A (p.His1682Asn) c.5035C>A (p.His1679Asn) c.4921C>A (p.His1641Asn) c.2905C>A (p.His969Asn) c.595C>A (p.His199Asn) n.5294C>A | |
18 | g.23876321C>G | CA402044906 | LAMA3 | c.199C>G (p.His67Asp) c.5026C>G (p.His1676Asp) c.1918C>G (p.His640Asp) c.5053C>G (p.His1685Asp) c.5044C>G (p.His1682Asp) c.5035C>G (p.His1679Asp) c.4921C>G (p.His1641Asp) c.2905C>G (p.His969Asp) c.595C>G (p.His199Asp) n.5294C>G | gnomAD v4 |
18 | g.23876321C>T | CA402044907 | LAMA3 | c.199C>T (p.His67Tyr) c.5026C>T (p.His1676Tyr) c.1918C>T (p.His640Tyr) c.5053C>T (p.His1685Tyr) c.5044C>T (p.His1682Tyr) c.5035C>T (p.His1679Tyr) c.4921C>T (p.His1641Tyr) c.2905C>T (p.His969Tyr) c.595C>T (p.His199Tyr) n.5294C>T | |
18 | g.23876322A= | CA2290312333 | LAMA3 | c.200A= (p.His67=) c.5027A= (p.His1676=) c.1919A= (p.His640=) c.5054A= (p.His1685=) c.5045A= (p.His1682=) c.5036A= (p.His1679=) c.4922A= (p.His1641=) c.2906A= (p.His969=) c.596A= (p.His199=) n.5295A= | |
18 | g.23876322A>C | CA8915867 | LAMA3 | c.200A>C (p.His67Pro) c.5027A>C (p.His1676Pro) c.1919A>C (p.His640Pro) c.5054A>C (p.His1685Pro) c.5045A>C (p.His1682Pro) c.5036A>C (p.His1679Pro) c.4922A>C (p.His1641Pro) c.2906A>C (p.His969Pro) c.596A>C (p.His199Pro) n.5295A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23876322A>G | CA402044908 | LAMA3 | c.200A>G (p.His67Arg) c.5027A>G (p.His1676Arg) c.1919A>G (p.His640Arg) c.5054A>G (p.His1685Arg) c.5045A>G (p.His1682Arg) c.5036A>G (p.His1679Arg) c.4922A>G (p.His1641Arg) c.2906A>G (p.His969Arg) c.596A>G (p.His199Arg) n.5295A>G | dbSNP gnomAD v3 gnomAD v4 |
18 | g.23876322A>T | CA402044909 | LAMA3 | c.200A>T (p.His67Leu) c.5027A>T (p.His1676Leu) c.1919A>T (p.His640Leu) c.5054A>T (p.His1685Leu) c.5045A>T (p.His1682Leu) c.5036A>T (p.His1679Leu) c.4922A>T (p.His1641Leu) c.2906A>T (p.His969Leu) c.596A>T (p.His199Leu) n.5295A>T | |
18 | g.23876323T>A | CA402044911 | LAMA3 | c.201T>A (p.His67Gln) c.5028T>A (p.His1676Gln) c.1920T>A (p.His640Gln) c.5055T>A (p.His1685Gln) c.5046T>A (p.His1682Gln) c.5037T>A (p.His1679Gln) c.4923T>A (p.His1641Gln) c.2907T>A (p.His969Gln) c.597T>A (p.His199Gln) n.5296T>A | |
18 | g.23876323T>C | CA503327839 | LAMA3 | c.201T>C (p.His67=) c.5028T>C (p.His1676=) c.1920T>C (p.His640=) c.5055T>C (p.His1685=) c.5046T>C (p.His1682=) c.5037T>C (p.His1679=) c.4923T>C (p.His1641=) c.2907T>C (p.His969=) c.597T>C (p.His199=) n.5296T>C | |
18 | g.23876323T>G | CA402044910 | LAMA3 | c.201T>G (p.His67Gln) c.5028T>G (p.His1676Gln) c.1920T>G (p.His640Gln) c.5055T>G (p.His1685Gln) c.5046T>G (p.His1682Gln) c.5037T>G (p.His1679Gln) c.4923T>G (p.His1641Gln) c.2907T>G (p.His969Gln) c.597T>G (p.His199Gln) n.5296T>G | |
18 | g.23876324A>C | CA402044912 | LAMA3 | c.202A>C (p.Lys68Gln) c.5029A>C (p.Lys1677Gln) c.1921A>C (p.Lys641Gln) c.5056A>C (p.Lys1686Gln) c.5047A>C (p.Lys1683Gln) c.5038A>C (p.Lys1680Gln) c.4924A>C (p.Lys1642Gln) c.2908A>C (p.Lys970Gln) c.598A>C (p.Lys200Gln) n.5297A>C | |
18 | g.23876324A>G | CA402044913 | LAMA3 | c.202A>G (p.Lys68Glu) c.5029A>G (p.Lys1677Glu) c.1921A>G (p.Lys641Glu) c.5056A>G (p.Lys1686Glu) c.5047A>G (p.Lys1683Glu) c.5038A>G (p.Lys1680Glu) c.4924A>G (p.Lys1642Glu) c.2908A>G (p.Lys970Glu) c.598A>G (p.Lys200Glu) n.5297A>G | |
18 | g.23876324A>T | CA402044914 | LAMA3 | c.202A>T (p.Lys68Ter) c.5029A>T (p.Lys1677Ter) c.1921A>T (p.Lys641Ter) c.5056A>T (p.Lys1686Ter) c.5047A>T (p.Lys1683Ter) c.5038A>T (p.Lys1680Ter) c.4924A>T (p.Lys1642Ter) c.2908A>T (p.Lys970Ter) c.598A>T (p.Lys200Ter) n.5297A>T | |
18 | g.23876325A>C | CA402044915 | LAMA3 | c.203A>C (p.Lys68Thr) c.5030A>C (p.Lys1677Thr) c.1922A>C (p.Lys641Thr) c.5057A>C (p.Lys1686Thr) c.5048A>C (p.Lys1683Thr) c.5039A>C (p.Lys1680Thr) c.4925A>C (p.Lys1642Thr) c.2909A>C (p.Lys970Thr) c.599A>C (p.Lys200Thr) n.5298A>C | |
18 | g.23876325A>G | CA402044916 | LAMA3 | c.203A>G (p.Lys68Arg) c.5030A>G (p.Lys1677Arg) c.1922A>G (p.Lys641Arg) c.5057A>G (p.Lys1686Arg) c.5048A>G (p.Lys1683Arg) c.5039A>G (p.Lys1680Arg) c.4925A>G (p.Lys1642Arg) c.2909A>G (p.Lys970Arg) c.599A>G (p.Lys200Arg) n.5298A>G | |
18 | g.23876325A>T | CA402044917 | LAMA3 | c.203A>T (p.Lys68Ile) c.5030A>T (p.Lys1677Ile) c.1922A>T (p.Lys641Ile) c.5057A>T (p.Lys1686Ile) c.5048A>T (p.Lys1683Ile) c.5039A>T (p.Lys1680Ile) c.4925A>T (p.Lys1642Ile) c.2909A>T (p.Lys970Ile) c.599A>T (p.Lys200Ile) n.5298A>T | |
18 | g.23876326A>C | CA402044918 | LAMA3 | c.204A>C (p.Lys68Asn) c.5031A>C (p.Lys1677Asn) c.1923A>C (p.Lys641Asn) c.5058A>C (p.Lys1686Asn) c.5049A>C (p.Lys1683Asn) c.5040A>C (p.Lys1680Asn) c.4926A>C (p.Lys1642Asn) c.2910A>C (p.Lys970Asn) c.600A>C (p.Lys200Asn) n.5299A>C | COSMIC COSMIC |
18 | g.23876326A>G | CA503327842 | LAMA3 | c.204A>G (p.Lys68=) c.5031A>G (p.Lys1677=) c.1923A>G (p.Lys641=) c.5058A>G (p.Lys1686=) c.5049A>G (p.Lys1683=) c.5040A>G (p.Lys1680=) c.4926A>G (p.Lys1642=) c.2910A>G (p.Lys970=) c.600A>G (p.Lys200=) n.5299A>G | |
18 | g.23876326A>T | CA402044919 | LAMA3 | c.204A>T (p.Lys68Asn) c.5031A>T (p.Lys1677Asn) c.1923A>T (p.Lys641Asn) c.5058A>T (p.Lys1686Asn) c.5049A>T (p.Lys1683Asn) c.5040A>T (p.Lys1680Asn) c.4926A>T (p.Lys1642Asn) c.2910A>T (p.Lys970Asn) c.600A>T (p.Lys200Asn) n.5299A>T | |
18 | g.23876327G>A | CA402044920 | LAMA3 | c.205G>A (p.Gly69Ser) c.5032G>A (p.Gly1678Ser) c.1924G>A (p.Gly642Ser) c.5059G>A (p.Gly1687Ser) c.5050G>A (p.Gly1684Ser) c.5041G>A (p.Gly1681Ser) c.4927G>A (p.Gly1643Ser) c.2911G>A (p.Gly971Ser) c.601G>A (p.Gly201Ser) n.5300G>A | dbSNP |
18 | g.23876327G>C | CA402044921 | LAMA3 | c.205G>C (p.Gly69Arg) c.5032G>C (p.Gly1678Arg) c.1924G>C (p.Gly642Arg) c.5059G>C (p.Gly1687Arg) c.5050G>C (p.Gly1684Arg) c.5041G>C (p.Gly1681Arg) c.4927G>C (p.Gly1643Arg) c.2911G>C (p.Gly971Arg) c.601G>C (p.Gly201Arg) n.5300G>C | |
18 | g.23876327G= | CA2290312334 | LAMA3 | c.205G= (p.Gly69=) c.5032G= (p.Gly1678=) c.1924G= (p.Gly642=) c.5059G= (p.Gly1687=) c.5050G= (p.Gly1684=) c.5041G= (p.Gly1681=) c.4927G= (p.Gly1643=) c.2911G= (p.Gly971=) c.601G= (p.Gly201=) n.5300G= | |
18 | g.23876327G>T | CA402044922 | LAMA3 | c.205G>T (p.Gly69Cys) c.5032G>T (p.Gly1678Cys) c.1924G>T (p.Gly642Cys) c.5059G>T (p.Gly1687Cys) c.5050G>T (p.Gly1684Cys) c.5041G>T (p.Gly1681Cys) c.4927G>T (p.Gly1643Cys) c.2911G>T (p.Gly971Cys) c.601G>T (p.Gly201Cys) n.5300G>T | |
18 | g.23876328G>A | CA402044923 | LAMA3 | c.206G>A (p.Gly69Asp) c.5033G>A (p.Gly1678Asp) c.1925G>A (p.Gly642Asp) c.5060G>A (p.Gly1687Asp) c.5051G>A (p.Gly1684Asp) c.5042G>A (p.Gly1681Asp) c.4928G>A (p.Gly1643Asp) c.2912G>A (p.Gly971Asp) c.602G>A (p.Gly201Asp) n.5301G>A | |
18 | g.23876328G>C | CA402044924 | LAMA3 | c.206G>C (p.Gly69Ala) c.5033G>C (p.Gly1678Ala) c.1925G>C (p.Gly642Ala) c.5060G>C (p.Gly1687Ala) c.5051G>C (p.Gly1684Ala) c.5042G>C (p.Gly1681Ala) c.4928G>C (p.Gly1643Ala) c.2912G>C (p.Gly971Ala) c.602G>C (p.Gly201Ala) n.5301G>C | |
18 | g.23876328G= | CA2290312335 | LAMA3 | c.206G= (p.Gly69=) c.5033G= (p.Gly1678=) c.1925G= (p.Gly642=) c.5060G= (p.Gly1687=) c.5051G= (p.Gly1684=) c.5042G= (p.Gly1681=) c.4928G= (p.Gly1643=) c.2912G= (p.Gly971=) c.602G= (p.Gly201=) n.5301G= | |
18 | g.23876328G>T | CA402044925 | LAMA3 | c.206G>T (p.Gly69Val) c.5033G>T (p.Gly1678Val) c.1925G>T (p.Gly642Val) c.5060G>T (p.Gly1687Val) c.5051G>T (p.Gly1684Val) c.5042G>T (p.Gly1681Val) c.4928G>T (p.Gly1643Val) c.2912G>T (p.Gly971Val) c.602G>T (p.Gly201Val) n.5301G>T | dbSNP gnomAD v4 |
18 | g.23876329C>A | CA503327847 | LAMA3 | c.207C>A (p.Gly69=) c.5034C>A (p.Gly1678=) c.1926C>A (p.Gly642=) c.5061C>A (p.Gly1687=) c.5052C>A (p.Gly1684=) c.5043C>A (p.Gly1681=) c.4929C>A (p.Gly1643=) c.2913C>A (p.Gly971=) c.603C>A (p.Gly201=) n.5302C>A | |
18 | g.23876329C>G | CA503327848 | LAMA3 | c.207C>G (p.Gly69=) c.5034C>G (p.Gly1678=) c.1926C>G (p.Gly642=) c.5061C>G (p.Gly1687=) c.5052C>G (p.Gly1684=) c.5043C>G (p.Gly1681=) c.4929C>G (p.Gly1643=) c.2913C>G (p.Gly971=) c.603C>G (p.Gly201=) n.5302C>G | ClinVar gnomAD v4 |
18 | g.23876329C>T | CA503327850 | LAMA3 | c.207C>T (p.Gly69=) c.5034C>T (p.Gly1678=) c.1926C>T (p.Gly642=) c.5061C>T (p.Gly1687=) c.5052C>T (p.Gly1684=) c.5043C>T (p.Gly1681=) c.4929C>T (p.Gly1643=) c.2913C>T (p.Gly971=) c.603C>T (p.Gly201=) n.5302C>T | |
18 | g.23876330T>A | CA402044926 | LAMA3 | c.208T>A (p.Leu70Met) c.5035T>A (p.Leu1679Met) c.1927T>A (p.Leu643Met) c.5062T>A (p.Leu1688Met) c.5053T>A (p.Leu1685Met) c.5044T>A (p.Leu1682Met) c.4930T>A (p.Leu1644Met) c.2914T>A (p.Leu972Met) c.604T>A (p.Leu202Met) n.5303T>A | |
18 | g.23876330T>C | CA503327851 | LAMA3 | c.208T>C (p.Leu70=) c.5035T>C (p.Leu1679=) c.1927T>C (p.Leu643=) c.5062T>C (p.Leu1688=) c.5053T>C (p.Leu1685=) c.5044T>C (p.Leu1682=) c.4930T>C (p.Leu1644=) c.2914T>C (p.Leu972=) c.604T>C (p.Leu202=) n.5303T>C | |
18 | g.23876330T>G | CA402044927 | LAMA3 | c.208T>G (p.Leu70Val) c.5035T>G (p.Leu1679Val) c.1927T>G (p.Leu643Val) c.5062T>G (p.Leu1688Val) c.5053T>G (p.Leu1685Val) c.5044T>G (p.Leu1682Val) c.4930T>G (p.Leu1644Val) c.2914T>G (p.Leu972Val) c.604T>G (p.Leu202Val) n.5303T>G | |
18 | g.23876331T>A | CA402044928 | LAMA3 | c.209T>A (p.Leu70Ter) c.5036T>A (p.Leu1679Ter) c.1928T>A (p.Leu643Ter) c.5063T>A (p.Leu1688Ter) c.5054T>A (p.Leu1685Ter) c.5045T>A (p.Leu1682Ter) c.4931T>A (p.Leu1644Ter) c.2915T>A (p.Leu972Ter) c.605T>A (p.Leu202Ter) n.5304T>A | |
18 | g.23876331T>C | CA402044929 | LAMA3 | c.209T>C (p.Leu70Ser) c.5036T>C (p.Leu1679Ser) c.1928T>C (p.Leu643Ser) c.5063T>C (p.Leu1688Ser) c.5054T>C (p.Leu1685Ser) c.5045T>C (p.Leu1682Ser) c.4931T>C (p.Leu1644Ser) c.2915T>C (p.Leu972Ser) c.605T>C (p.Leu202Ser) n.5304T>C | |
18 | g.23876331T>G | CA402044930 | LAMA3 | c.209T>G (p.Leu70Trp) c.5036T>G (p.Leu1679Trp) c.1928T>G (p.Leu643Trp) c.5063T>G (p.Leu1688Trp) c.5054T>G (p.Leu1685Trp) c.5045T>G (p.Leu1682Trp) c.4931T>G (p.Leu1644Trp) c.2915T>G (p.Leu972Trp) c.605T>G (p.Leu202Trp) n.5304T>G | |
18 | g.23876332G>A | CA503327854 | LAMA3 | c.210G>A (p.Leu70=) c.5037G>A (p.Leu1679=) c.1929G>A (p.Leu643=) c.5064G>A (p.Leu1688=) c.5055G>A (p.Leu1685=) c.5046G>A (p.Leu1682=) c.4932G>A (p.Leu1644=) c.2916G>A (p.Leu972=) c.606G>A (p.Leu202=) n.5305G>A | ClinVar |
18 | g.23876332G>C | CA402044931 | LAMA3 | c.210G>C (p.Leu70Phe) c.5037G>C (p.Leu1679Phe) c.1929G>C (p.Leu643Phe) c.5064G>C (p.Leu1688Phe) c.5055G>C (p.Leu1685Phe) c.5046G>C (p.Leu1682Phe) c.4932G>C (p.Leu1644Phe) c.2916G>C (p.Leu972Phe) c.606G>C (p.Leu202Phe) n.5305G>C | |
18 | g.23876332G>T | CA402044932 | LAMA3 | c.210G>T (p.Leu70Phe) c.5037G>T (p.Leu1679Phe) c.1929G>T (p.Leu643Phe) c.5064G>T (p.Leu1688Phe) c.5055G>T (p.Leu1685Phe) c.5046G>T (p.Leu1682Phe) c.4932G>T (p.Leu1644Phe) c.2916G>T (p.Leu972Phe) c.606G>T (p.Leu202Phe) n.5305G>T | |
18 | g.23876333T>A | CA402044933 | LAMA3 | c.211T>A (p.Tyr71Asn) c.5038T>A (p.Tyr1680Asn) c.1930T>A (p.Tyr644Asn) c.5065T>A (p.Tyr1689Asn) c.5056T>A (p.Tyr1686Asn) c.5047T>A (p.Tyr1683Asn) c.4933T>A (p.Tyr1645Asn) c.2917T>A (p.Tyr973Asn) c.607T>A (p.Tyr203Asn) n.5306T>A | |
18 | g.23876333T>C | CA297091427 | LAMA3 | c.211T>C (p.Tyr71His) c.5038T>C (p.Tyr1680His) c.1930T>C (p.Tyr644His) c.5065T>C (p.Tyr1689His) c.5056T>C (p.Tyr1686His) c.5047T>C (p.Tyr1683His) c.4933T>C (p.Tyr1645His) c.2917T>C (p.Tyr973His) c.607T>C (p.Tyr203His) n.5306T>C | dbSNP gnomAD v3 gnomAD v4 |
18 | g.23876333T>G | CA402044934 | LAMA3 | c.211T>G (p.Tyr71Asp) c.5038T>G (p.Tyr1680Asp) c.1930T>G (p.Tyr644Asp) c.5065T>G (p.Tyr1689Asp) c.5056T>G (p.Tyr1686Asp) c.5047T>G (p.Tyr1683Asp) c.4933T>G (p.Tyr1645Asp) c.2917T>G (p.Tyr973Asp) c.607T>G (p.Tyr203Asp) n.5306T>G | |
18 | g.23876333T= | CA2290312336 | LAMA3 | c.211T= (p.Tyr71=) c.5038T= (p.Tyr1680=) c.1930T= (p.Tyr644=) c.5065T= (p.Tyr1689=) c.5056T= (p.Tyr1686=) c.5047T= (p.Tyr1683=) c.4933T= (p.Tyr1645=) c.2917T= (p.Tyr973=) c.607T= (p.Tyr203=) n.5306T= | |
18 | g.23876334A= | CA2290312337 | LAMA3 | c.212A= (p.Tyr71=) c.5039A= (p.Tyr1680=) c.1931A= (p.Tyr644=) c.5066A= (p.Tyr1689=) c.5057A= (p.Tyr1686=) c.5048A= (p.Tyr1683=) c.4934A= (p.Tyr1645=) c.2918A= (p.Tyr973=) c.608A= (p.Tyr203=) n.5307A= | |
18 | g.23876334A>C | CA402044935 | LAMA3 | c.212A>C (p.Tyr71Ser) c.5039A>C (p.Tyr1680Ser) c.1931A>C (p.Tyr644Ser) c.5066A>C (p.Tyr1689Ser) c.5057A>C (p.Tyr1686Ser) c.5048A>C (p.Tyr1683Ser) c.4934A>C (p.Tyr1645Ser) c.2918A>C (p.Tyr973Ser) c.608A>C (p.Tyr203Ser) n.5307A>C | |
18 | g.23876334A>G | CA8915868 | LAMA3 | c.212A>G (p.Tyr71Cys) c.5039A>G (p.Tyr1680Cys) c.1931A>G (p.Tyr644Cys) c.5066A>G (p.Tyr1689Cys) c.5057A>G (p.Tyr1686Cys) c.5048A>G (p.Tyr1683Cys) c.4934A>G (p.Tyr1645Cys) c.2918A>G (p.Tyr973Cys) c.608A>G (p.Tyr203Cys) n.5307A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23876334A>T | CA402044936 | LAMA3 | c.212A>T (p.Tyr71Phe) c.5039A>T (p.Tyr1680Phe) c.1931A>T (p.Tyr644Phe) c.5066A>T (p.Tyr1689Phe) c.5057A>T (p.Tyr1686Phe) c.5048A>T (p.Tyr1683Phe) c.4934A>T (p.Tyr1645Phe) c.2918A>T (p.Tyr973Phe) c.608A>T (p.Tyr203Phe) n.5307A>T | |
18 | g.23876335T>A | CA402044937 | LAMA3 | c.213T>A (p.Tyr71Ter) c.5040T>A (p.Tyr1680Ter) c.1932T>A (p.Tyr644Ter) c.5067T>A (p.Tyr1689Ter) c.5058T>A (p.Tyr1686Ter) c.5049T>A (p.Tyr1683Ter) c.4935T>A (p.Tyr1645Ter) c.2919T>A (p.Tyr973Ter) c.609T>A (p.Tyr203Ter) n.5308T>A | |
18 | g.23876335T>C | CA503327863 | LAMA3 | c.213T>C (p.Tyr71=) c.5040T>C (p.Tyr1680=) c.1932T>C (p.Tyr644=) c.5067T>C (p.Tyr1689=) c.5058T>C (p.Tyr1686=) c.5049T>C (p.Tyr1683=) c.4935T>C (p.Tyr1645=) c.2919T>C (p.Tyr973=) c.609T>C (p.Tyr203=) n.5308T>C | ClinVar |
18 | g.23876335T>G | CA402044938 | LAMA3 | c.213T>G (p.Tyr71Ter) c.5040T>G (p.Tyr1680Ter) c.1932T>G (p.Tyr644Ter) c.5067T>G (p.Tyr1689Ter) c.5058T>G (p.Tyr1686Ter) c.5049T>G (p.Tyr1683Ter) c.4935T>G (p.Tyr1645Ter) c.2919T>G (p.Tyr973Ter) c.609T>G (p.Tyr203Ter) n.5308T>G | |
18 | g.23876336A>C | CA402044941 | LAMA3 | c.214A>C (p.Thr72Pro) c.5041A>C (p.Thr1681Pro) c.1933A>C (p.Thr645Pro) c.5068A>C (p.Thr1690Pro) c.5059A>C (p.Thr1687Pro) c.5050A>C (p.Thr1684Pro) c.4936A>C (p.Thr1646Pro) c.2920A>C (p.Thr974Pro) c.610A>C (p.Thr204Pro) n.5309A>C | |
18 | g.23876336A>G | CA402044939 | LAMA3 | c.214A>G (p.Thr72Ala) c.5041A>G (p.Thr1681Ala) c.1933A>G (p.Thr645Ala) c.5068A>G (p.Thr1690Ala) c.5059A>G (p.Thr1687Ala) c.5050A>G (p.Thr1684Ala) c.4936A>G (p.Thr1646Ala) c.2920A>G (p.Thr974Ala) c.610A>G (p.Thr204Ala) n.5309A>G | |
18 | g.23876336A>T | CA402044940 | LAMA3 | c.214A>T (p.Thr72Ser) c.5041A>T (p.Thr1681Ser) c.1933A>T (p.Thr645Ser) c.5068A>T (p.Thr1690Ser) c.5059A>T (p.Thr1687Ser) c.5050A>T (p.Thr1684Ser) c.4936A>T (p.Thr1646Ser) c.2920A>T (p.Thr974Ser) c.610A>T (p.Thr204Ser) n.5309A>T | |
18 | g.23876337C>A | CA402044942 | LAMA3 | c.215C>A (p.Thr72Asn) c.5042C>A (p.Thr1681Asn) c.1934C>A (p.Thr645Asn) c.5069C>A (p.Thr1690Asn) c.5060C>A (p.Thr1687Asn) c.5051C>A (p.Thr1684Asn) c.4937C>A (p.Thr1646Asn) c.2921C>A (p.Thr974Asn) c.611C>A (p.Thr204Asn) n.5310C>A | |
18 | g.23876337C>G | CA402044943 | LAMA3 | c.215C>G (p.Thr72Ser) c.5042C>G (p.Thr1681Ser) c.1934C>G (p.Thr645Ser) c.5069C>G (p.Thr1690Ser) c.5060C>G (p.Thr1687Ser) c.5051C>G (p.Thr1684Ser) c.4937C>G (p.Thr1646Ser) c.2921C>G (p.Thr974Ser) c.611C>G (p.Thr204Ser) n.5310C>G | gnomAD v4 |
18 | g.23876337C>T | CA402044944 | LAMA3 | c.215C>T (p.Thr72Ile) c.5042C>T (p.Thr1681Ile) c.1934C>T (p.Thr645Ile) c.5069C>T (p.Thr1690Ile) c.5060C>T (p.Thr1687Ile) c.5051C>T (p.Thr1684Ile) c.4937C>T (p.Thr1646Ile) c.2921C>T (p.Thr974Ile) c.611C>T (p.Thr204Ile) n.5310C>T | |
18 | g.23876338C>A | CA503327867 | LAMA3 | c.216C>A (p.Thr72=) c.5043C>A (p.Thr1681=) c.1935C>A (p.Thr645=) c.5070C>A (p.Thr1690=) c.5061C>A (p.Thr1687=) c.5052C>A (p.Thr1684=) c.4938C>A (p.Thr1646=) c.2922C>A (p.Thr974=) c.612C>A (p.Thr204=) n.5311C>A | |
18 | g.23876338C= | CA2290312338 | LAMA3 | c.216C= (p.Thr72=) c.5043C= (p.Thr1681=) c.1935C= (p.Thr645=) c.5070C= (p.Thr1690=) c.5061C= (p.Thr1687=) c.5052C= (p.Thr1684=) c.4938C= (p.Thr1646=) c.2922C= (p.Thr974=) c.612C= (p.Thr204=) n.5311C= | |
18 | g.23876338C>G | CA503327868 | LAMA3 | c.216C>G (p.Thr72=) c.5043C>G (p.Thr1681=) c.1935C>G (p.Thr645=) c.5070C>G (p.Thr1690=) c.5061C>G (p.Thr1687=) c.5052C>G (p.Thr1684=) c.4938C>G (p.Thr1646=) c.2922C>G (p.Thr974=) c.612C>G (p.Thr204=) n.5311C>G | |
18 | g.23876338C>T | CA8915869 | LAMA3 | c.216C>T (p.Thr72=) c.5043C>T (p.Thr1681=) c.1935C>T (p.Thr645=) c.5070C>T (p.Thr1690=) c.5061C>T (p.Thr1687=) c.5052C>T (p.Thr1684=) c.4938C>T (p.Thr1646=) c.2922C>T (p.Thr974=) c.612C>T (p.Thr204=) n.5311C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23876339G>A | CA8915870 | LAMA3 | c.217G>A (p.Gly73Arg) c.5044G>A (p.Gly1682Arg) c.1936G>A (p.Gly646Arg) c.5071G>A (p.Gly1691Arg) c.5062G>A (p.Gly1688Arg) c.5053G>A (p.Gly1685Arg) c.4939G>A (p.Gly1647Arg) c.2923G>A (p.Gly975Arg) c.613G>A (p.Gly205Arg) n.5312G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23876339G>C | CA402044945 | LAMA3 | c.217G>C (p.Gly73Arg) c.5044G>C (p.Gly1682Arg) c.1936G>C (p.Gly646Arg) c.5071G>C (p.Gly1691Arg) c.5062G>C (p.Gly1688Arg) c.5053G>C (p.Gly1685Arg) c.4939G>C (p.Gly1647Arg) c.2923G>C (p.Gly975Arg) c.613G>C (p.Gly205Arg) n.5312G>C | |
18 | g.23876339G= | CA2290312339 | LAMA3 | c.217G= (p.Gly73=) c.5044G= (p.Gly1682=) c.1936G= (p.Gly646=) c.5071G= (p.Gly1691=) c.5062G= (p.Gly1688=) c.5053G= (p.Gly1685=) c.4939G= (p.Gly1647=) c.2923G= (p.Gly975=) c.613G= (p.Gly205=) n.5312G= | |
18 | g.23876339G>T | CA402044946 | LAMA3 | c.217G>T (p.Gly73Ter) c.5044G>T (p.Gly1682Ter) c.1936G>T (p.Gly646Ter) c.5071G>T (p.Gly1691Ter) c.5062G>T (p.Gly1688Ter) c.5053G>T (p.Gly1685Ter) c.4939G>T (p.Gly1647Ter) c.2923G>T (p.Gly975Ter) c.613G>T (p.Gly205Ter) n.5312G>T | |
18 | g.23876340G>A | CA402044947 | LAMA3 | c.218G>A (p.Gly73Glu) c.5045G>A (p.Gly1682Glu) c.1937G>A (p.Gly646Glu) c.5072G>A (p.Gly1691Glu) c.5063G>A (p.Gly1688Glu) c.5054G>A (p.Gly1685Glu) c.4940G>A (p.Gly1647Glu) c.2924G>A (p.Gly975Glu) c.614G>A (p.Gly205Glu) n.5313G>A | |
18 | g.23876340G>C | CA402044948 | LAMA3 | c.218G>C (p.Gly73Ala) c.5045G>C (p.Gly1682Ala) c.1937G>C (p.Gly646Ala) c.5072G>C (p.Gly1691Ala) c.5063G>C (p.Gly1688Ala) c.5054G>C (p.Gly1685Ala) c.4940G>C (p.Gly1647Ala) c.2924G>C (p.Gly975Ala) c.614G>C (p.Gly205Ala) n.5313G>C | |
18 | g.23876340G>T | CA402044949 | LAMA3 | c.218G>T (p.Gly73Val) c.5045G>T (p.Gly1682Val) c.1937G>T (p.Gly646Val) c.5072G>T (p.Gly1691Val) c.5063G>T (p.Gly1688Val) c.5054G>T (p.Gly1685Val) c.4940G>T (p.Gly1647Val) c.2924G>T (p.Gly975Val) c.614G>T (p.Gly205Val) n.5313G>T | |
18 | g.23876341A= | CA2290312340 | LAMA3 | c.219A= (p.Gly73=) c.5046A= (p.Gly1682=) c.1938A= (p.Gly646=) c.5073A= (p.Gly1691=) c.5064A= (p.Gly1688=) c.5055A= (p.Gly1685=) c.4941A= (p.Gly1647=) c.2925A= (p.Gly975=) c.615A= (p.Gly205=) n.5314A= | |
18 | g.23876341A>C | CA503327874 | LAMA3 | c.219A>C (p.Gly73=) c.5046A>C (p.Gly1682=) c.1938A>C (p.Gly646=) c.5073A>C (p.Gly1691=) c.5064A>C (p.Gly1688=) c.5055A>C (p.Gly1685=) c.4941A>C (p.Gly1647=) c.2925A>C (p.Gly975=) c.615A>C (p.Gly205=) n.5314A>C | |
18 | g.23876341A>G | CA297091428 | LAMA3 | c.219A>G (p.Gly73=) c.5046A>G (p.Gly1682=) c.1938A>G (p.Gly646=) c.5073A>G (p.Gly1691=) c.5064A>G (p.Gly1688=) c.5055A>G (p.Gly1685=) c.4941A>G (p.Gly1647=) c.2925A>G (p.Gly975=) c.615A>G (p.Gly205=) n.5314A>G | ClinVar dbSNP |
18 | g.23876341A>T | CA503327872 | LAMA3 | c.219A>T (p.Gly73=) c.5046A>T (p.Gly1682=) c.1938A>T (p.Gly646=) c.5073A>T (p.Gly1691=) c.5064A>T (p.Gly1688=) c.5055A>T (p.Gly1685=) c.4941A>T (p.Gly1647=) c.2925A>T (p.Gly975=) c.615A>T (p.Gly205=) n.5314A>T | |
18 | g.23876342C>A | CA503327875 | LAMA3 | c.220C>A (p.Arg74=) c.5047C>A (p.Arg1683=) c.1939C>A (p.Arg647=) c.5074C>A (p.Arg1692=) c.5065C>A (p.Arg1689=) c.5056C>A (p.Arg1686=) c.4942C>A (p.Arg1648=) c.2926C>A (p.Arg976=) c.616C>A (p.Arg206=) n.5315C>A | |
18 | g.23876342C= | CA2290312341 | LAMA3 | c.220C= (p.Arg74=) c.5047C= (p.Arg1683=) c.1939C= (p.Arg647=) c.5074C= (p.Arg1692=) c.5065C= (p.Arg1689=) c.5056C= (p.Arg1686=) c.4942C= (p.Arg1648=) c.2926C= (p.Arg976=) c.616C= (p.Arg206=) n.5315C= | |
18 | g.23876342C>G | CA402044950 | LAMA3 | c.220C>G (p.Arg74Gly) c.5047C>G (p.Arg1683Gly) c.1939C>G (p.Arg647Gly) c.5074C>G (p.Arg1692Gly) c.5065C>G (p.Arg1689Gly) c.5056C>G (p.Arg1686Gly) c.4942C>G (p.Arg1648Gly) c.2926C>G (p.Arg976Gly) c.616C>G (p.Arg206Gly) n.5315C>G | |
18 | g.23876342C>T | CA8915871 | LAMA3 | c.220C>T (p.Arg74Trp) c.5047C>T (p.Arg1683Trp) c.1939C>T (p.Arg647Trp) c.5074C>T (p.Arg1692Trp) c.5065C>T (p.Arg1689Trp) c.5056C>T (p.Arg1686Trp) c.4942C>T (p.Arg1648Trp) c.2926C>T (p.Arg976Trp) c.616C>T (p.Arg206Trp) n.5315C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23876342_23876343delinsCG | CA2290312342 | LAMA3 | c.220_221delinsCG (p.Arg74=) c.5047_5048delinsCG (p.Arg1683=) c.1939_1940delinsCG (p.Arg647=) c.5074_5075delinsCG (p.Arg1692=) c.5065_5066delinsCG (p.Arg1689=) c.5056_5057delinsCG (p.Arg1686=) c.4942_4943delinsCG (p.Arg1648=) c.2926_2927delinsCG (p.Arg976=) c.616_617delinsCG (p.Arg206=) n.5315_5316delinsCG | |
18 | g.23876343G>A | CA8915873 | LAMA3 | c.221G>A (p.Arg74Gln) c.5048G>A (p.Arg1683Gln) c.1940G>A (p.Arg647Gln) c.5075G>A (p.Arg1692Gln) c.5066G>A (p.Arg1689Gln) c.5057G>A (p.Arg1686Gln) c.4943G>A (p.Arg1648Gln) c.2927G>A (p.Arg976Gln) c.617G>A (p.Arg206Gln) n.5316G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
18 | g.23876343G>C | CA402044951 | LAMA3 | c.221G>C (p.Arg74Pro) c.5048G>C (p.Arg1683Pro) c.1940G>C (p.Arg647Pro) c.5075G>C (p.Arg1692Pro) c.5066G>C (p.Arg1689Pro) c.5057G>C (p.Arg1686Pro) c.4943G>C (p.Arg1648Pro) c.2927G>C (p.Arg976Pro) c.617G>C (p.Arg206Pro) n.5316G>C | |
18 | g.23876343G= | CA2290312343 | LAMA3 | c.221G= (p.Arg74=) c.5048G= (p.Arg1683=) c.1940G= (p.Arg647=) c.5075G= (p.Arg1692=) c.5066G= (p.Arg1689=) c.5057G= (p.Arg1686=) c.4943G= (p.Arg1648=) c.2927G= (p.Arg976=) c.617G= (p.Arg206=) n.5316G= | |
18 | g.23876343G>T | CA402044952 | LAMA3 | c.221G>T (p.Arg74Leu) c.5048G>T (p.Arg1683Leu) c.1940G>T (p.Arg647Leu) c.5075G>T (p.Arg1692Leu) c.5066G>T (p.Arg1689Leu) c.5057G>T (p.Arg1686Leu) c.4943G>T (p.Arg1648Leu) c.2927G>T (p.Arg976Leu) c.617G>T (p.Arg206Leu) n.5316G>T | |
18 | g.23876344del | CA8915872 | LAMA3 | c.222del (p.Cys75ValfsTer?) c.5049del (p.Cys1684ValfsTer?) c.1941del (p.Cys648ValfsTer?) c.5076del (p.Cys1693ValfsTer?) c.5067del (p.Cys1690ValfsTer?) c.5058del (p.Cys1687ValfsTer?) c.4944del (p.Cys1649ValfsTer?) c.2928del (p.Cys977ValfsTer?) c.618del (p.Cys207ValfsTer?) n.5317del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23876344G>A | CA503327879 | LAMA3 | c.222G>A (p.Arg74=) c.5049G>A (p.Arg1683=) c.1941G>A (p.Arg647=) c.5076G>A (p.Arg1692=) c.5067G>A (p.Arg1689=) c.5058G>A (p.Arg1686=) c.4944G>A (p.Arg1648=) c.2928G>A (p.Arg976=) c.618G>A (p.Arg206=) n.5317G>A | ClinVar dbSNP gnomAD v4 |
18 | g.23876344G>C | CA8915874 | LAMA3 | c.222G>C (p.Arg74=) c.5049G>C (p.Arg1683=) c.1941G>C (p.Arg647=) c.5076G>C (p.Arg1692=) c.5067G>C (p.Arg1689=) c.5058G>C (p.Arg1686=) c.4944G>C (p.Arg1648=) c.2928G>C (p.Arg976=) c.618G>C (p.Arg206=) n.5317G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23876344G= | CA2290312344 | LAMA3 | c.222G= (p.Arg74=) c.5049G= (p.Arg1683=) c.1941G= (p.Arg647=) c.5076G= (p.Arg1692=) c.5067G= (p.Arg1689=) c.5058G= (p.Arg1686=) c.4944G= (p.Arg1648=) c.2928G= (p.Arg976=) c.618G= (p.Arg206=) n.5317G= | |
18 | g.23876344G>T | CA503327880 | LAMA3 | c.222G>T (p.Arg74=) c.5049G>T (p.Arg1683=) c.1941G>T (p.Arg647=) c.5076G>T (p.Arg1692=) c.5067G>T (p.Arg1689=) c.5058G>T (p.Arg1686=) c.4944G>T (p.Arg1648=) c.2928G>T (p.Arg976=) c.618G>T (p.Arg206=) n.5317G>T | gnomAD v4 |
18 | g.23876345T>A | CA402044953 | LAMA3 | c.223T>A (p.Cys75Ser) c.5050T>A (p.Cys1684Ser) c.1942T>A (p.Cys648Ser) c.5077T>A (p.Cys1693Ser) c.5068T>A (p.Cys1690Ser) c.5059T>A (p.Cys1687Ser) c.4945T>A (p.Cys1649Ser) c.2929T>A (p.Cys977Ser) c.619T>A (p.Cys207Ser) n.5318T>A | gnomAD v4 |
18 | g.23876345T>C | CA402044955 | LAMA3 | c.223T>C (p.Cys75Arg) c.5050T>C (p.Cys1684Arg) c.1942T>C (p.Cys648Arg) c.5077T>C (p.Cys1693Arg) c.5068T>C (p.Cys1690Arg) c.5059T>C (p.Cys1687Arg) c.4945T>C (p.Cys1649Arg) c.2929T>C (p.Cys977Arg) c.619T>C (p.Cys207Arg) n.5318T>C | |
18 | g.23876345T>G | CA402044954 | LAMA3 | c.223T>G (p.Cys75Gly) c.5050T>G (p.Cys1684Gly) c.1942T>G (p.Cys648Gly) c.5077T>G (p.Cys1693Gly) c.5068T>G (p.Cys1690Gly) c.5059T>G (p.Cys1687Gly) c.4945T>G (p.Cys1649Gly) c.2929T>G (p.Cys977Gly) c.619T>G (p.Cys207Gly) n.5318T>G | dbSNP |
18 | g.23876345T= | CA2290312345 | LAMA3 | c.223T= (p.Cys75=) c.5050T= (p.Cys1684=) c.1942T= (p.Cys648=) c.5077T= (p.Cys1693=) c.5068T= (p.Cys1690=) c.5059T= (p.Cys1687=) c.4945T= (p.Cys1649=) c.2929T= (p.Cys977=) c.619T= (p.Cys207=) n.5318T= | |
18 | g.23876346G>A | CA402044956 | LAMA3 | c.224G>A (p.Cys75Tyr) c.5051G>A (p.Cys1684Tyr) c.1943G>A (p.Cys648Tyr) c.5078G>A (p.Cys1693Tyr) c.5069G>A (p.Cys1690Tyr) c.5060G>A (p.Cys1687Tyr) c.4946G>A (p.Cys1649Tyr) c.2930G>A (p.Cys977Tyr) c.620G>A (p.Cys207Tyr) n.5319G>A | |
18 | g.23876346G>C | CA402044957 | LAMA3 | c.224G>C (p.Cys75Ser) c.5051G>C (p.Cys1684Ser) c.1943G>C (p.Cys648Ser) c.5078G>C (p.Cys1693Ser) c.5069G>C (p.Cys1690Ser) c.5060G>C (p.Cys1687Ser) c.4946G>C (p.Cys1649Ser) c.2930G>C (p.Cys977Ser) c.620G>C (p.Cys207Ser) n.5319G>C | |
18 | g.23876346G>T | CA402044958 | LAMA3 | c.224G>T (p.Cys75Phe) c.5051G>T (p.Cys1684Phe) c.1943G>T (p.Cys648Phe) c.5078G>T (p.Cys1693Phe) c.5069G>T (p.Cys1690Phe) c.5060G>T (p.Cys1687Phe) c.4946G>T (p.Cys1649Phe) c.2930G>T (p.Cys977Phe) c.620G>T (p.Cys207Phe) n.5319G>T | |
18 | g.23876347T>A | CA402044959 | LAMA3 | c.225T>A (p.Cys75Ter) c.5052T>A (p.Cys1684Ter) c.1944T>A (p.Cys648Ter) c.5079T>A (p.Cys1693Ter) c.5070T>A (p.Cys1690Ter) c.5061T>A (p.Cys1687Ter) c.4947T>A (p.Cys1649Ter) c.2931T>A (p.Cys977Ter) c.621T>A (p.Cys207Ter) n.5320T>A | gnomAD v4 |
18 | g.23876347T>C | CA503327884 | LAMA3 | c.225T>C (p.Cys75=) c.5052T>C (p.Cys1684=) c.1944T>C (p.Cys648=) c.5079T>C (p.Cys1693=) c.5070T>C (p.Cys1690=) c.5061T>C (p.Cys1687=) c.4947T>C (p.Cys1649=) c.2931T>C (p.Cys977=) c.621T>C (p.Cys207=) n.5320T>C | ClinVar |
18 | g.23876347T>G | CA402044960 | LAMA3 | c.225T>G (p.Cys75Trp) c.5052T>G (p.Cys1684Trp) c.1944T>G (p.Cys648Trp) c.5079T>G (p.Cys1693Trp) c.5070T>G (p.Cys1690Trp) c.5061T>G (p.Cys1687Trp) c.4947T>G (p.Cys1649Trp) c.2931T>G (p.Cys977Trp) c.621T>G (p.Cys207Trp) n.5320T>G | |
18 | g.23876348G>A | CA402044963 | LAMA3 | c.226G>A (p.Val76Ile) c.5053G>A (p.Val1685Ile) c.1945G>A (p.Val649Ile) c.5080G>A (p.Val1694Ile) c.5071G>A (p.Val1691Ile) c.5062G>A (p.Val1688Ile) c.4948G>A (p.Val1650Ile) c.2932G>A (p.Val978Ile) c.622G>A (p.Val208Ile) n.5321G>A | gnomAD v4 |
18 | g.23876348G>C | CA402044962 | LAMA3 | c.226G>C (p.Val76Leu) c.5053G>C (p.Val1685Leu) c.1945G>C (p.Val649Leu) c.5080G>C (p.Val1694Leu) c.5071G>C (p.Val1691Leu) c.5062G>C (p.Val1688Leu) c.4948G>C (p.Val1650Leu) c.2932G>C (p.Val978Leu) c.622G>C (p.Val208Leu) n.5321G>C | |
18 | g.23876348G>T | CA402044961 | LAMA3 | c.226G>T (p.Val76Phe) c.5053G>T (p.Val1685Phe) c.1945G>T (p.Val649Phe) c.5080G>T (p.Val1694Phe) c.5071G>T (p.Val1691Phe) c.5062G>T (p.Val1688Phe) c.4948G>T (p.Val1650Phe) c.2932G>T (p.Val978Phe) c.622G>T (p.Val208Phe) n.5321G>T | |
18 | g.23876349T>A | CA402044964 | LAMA3 | c.227T>A (p.Val76Asp) c.5054T>A (p.Val1685Asp) c.1946T>A (p.Val649Asp) c.5081T>A (p.Val1694Asp) c.5072T>A (p.Val1691Asp) c.5063T>A (p.Val1688Asp) c.4949T>A (p.Val1650Asp) c.2933T>A (p.Val978Asp) c.623T>A (p.Val208Asp) n.5322T>A | |
18 | g.23876349T>C | CA402044965 | LAMA3 | c.227T>C (p.Val76Ala) c.5054T>C (p.Val1685Ala) c.1946T>C (p.Val649Ala) c.5081T>C (p.Val1694Ala) c.5072T>C (p.Val1691Ala) c.5063T>C (p.Val1688Ala) c.4949T>C (p.Val1650Ala) c.2933T>C (p.Val978Ala) c.623T>C (p.Val208Ala) n.5322T>C | |
18 | g.23876349T>G | CA402044966 | LAMA3 | c.227T>G (p.Val76Gly) c.5054T>G (p.Val1685Gly) c.1946T>G (p.Val649Gly) c.5081T>G (p.Val1694Gly) c.5072T>G (p.Val1691Gly) c.5063T>G (p.Val1688Gly) c.4949T>G (p.Val1650Gly) c.2933T>G (p.Val978Gly) c.623T>G (p.Val208Gly) n.5322T>G | |
18 | g.23876350T>A | CA503327886 | LAMA3 | c.228T>A (p.Val76=) c.5055T>A (p.Val1685=) c.1947T>A (p.Val649=) c.5082T>A (p.Val1694=) c.5073T>A (p.Val1691=) c.5064T>A (p.Val1688=) c.4950T>A (p.Val1650=) c.2934T>A (p.Val978=) c.624T>A (p.Val208=) n.5323T>A | |
18 | g.23876350T>C | CA503327887 | LAMA3 | c.228T>C (p.Val76=) c.5055T>C (p.Val1685=) c.1947T>C (p.Val649=) c.5082T>C (p.Val1694=) c.5073T>C (p.Val1691=) c.5064T>C (p.Val1688=) c.4950T>C (p.Val1650=) c.2934T>C (p.Val978=) c.624T>C (p.Val208=) n.5323T>C | |
18 | g.23876350T>G | CA503327888 | LAMA3 | c.228T>G (p.Val76=) c.5055T>G (p.Val1685=) c.1947T>G (p.Val649=) c.5082T>G (p.Val1694=) c.5073T>G (p.Val1691=) c.5064T>G (p.Val1688=) c.4950T>G (p.Val1650=) c.2934T>G (p.Val978=) c.624T>G (p.Val208=) n.5323T>G | |
18 | g.23876351C>A | CA402044967 | LAMA3 | c.229C>A (p.Pro77Thr) c.5056C>A (p.Pro1686Thr) c.1948C>A (p.Pro650Thr) c.5083C>A (p.Pro1695Thr) c.5074C>A (p.Pro1692Thr) c.5065C>A (p.Pro1689Thr) c.4951C>A (p.Pro1651Thr) c.2935C>A (p.Pro979Thr) c.625C>A (p.Pro209Thr) n.5324C>A | |
18 | g.23876351C>G | CA402044968 | LAMA3 | c.229C>G (p.Pro77Ala) c.5056C>G (p.Pro1686Ala) c.1948C>G (p.Pro650Ala) c.5083C>G (p.Pro1695Ala) c.5074C>G (p.Pro1692Ala) c.5065C>G (p.Pro1689Ala) c.4951C>G (p.Pro1651Ala) c.2935C>G (p.Pro979Ala) c.625C>G (p.Pro209Ala) n.5324C>G | |
18 | g.23876351C>T | CA402044969 | LAMA3 | c.229C>T (p.Pro77Ser) c.5056C>T (p.Pro1686Ser) c.1948C>T (p.Pro650Ser) c.5083C>T (p.Pro1695Ser) c.5074C>T (p.Pro1692Ser) c.5065C>T (p.Pro1689Ser) c.4951C>T (p.Pro1651Ser) c.2935C>T (p.Pro979Ser) c.625C>T (p.Pro209Ser) n.5324C>T | |
18 | g.23876352C>A | CA402044972 | LAMA3 | c.230C>A (p.Pro77His) c.5057C>A (p.Pro1686His) c.1949C>A (p.Pro650His) c.5084C>A (p.Pro1695His) c.5075C>A (p.Pro1692His) c.5066C>A (p.Pro1689His) c.4952C>A (p.Pro1651His) c.2936C>A (p.Pro979His) c.626C>A (p.Pro209His) n.5325C>A | |
18 | g.23876352C>G | CA402044970 | LAMA3 | c.230C>G (p.Pro77Arg) c.5057C>G (p.Pro1686Arg) c.1949C>G (p.Pro650Arg) c.5084C>G (p.Pro1695Arg) c.5075C>G (p.Pro1692Arg) c.5066C>G (p.Pro1689Arg) c.4952C>G (p.Pro1651Arg) c.2936C>G (p.Pro979Arg) c.626C>G (p.Pro209Arg) n.5325C>G | |
18 | g.23876352C>T | CA402044971 | LAMA3 | c.230C>T (p.Pro77Leu) c.5057C>T (p.Pro1686Leu) c.1949C>T (p.Pro650Leu) c.5084C>T (p.Pro1695Leu) c.5075C>T (p.Pro1692Leu) c.5066C>T (p.Pro1689Leu) c.4952C>T (p.Pro1651Leu) c.2936C>T (p.Pro979Leu) c.626C>T (p.Pro209Leu) n.5325C>T | |
18 | g.23876353C>A | CA503327890 | LAMA3 | c.231C>A (p.Pro77=) c.5058C>A (p.Pro1686=) c.1950C>A (p.Pro650=) c.5085C>A (p.Pro1695=) c.5076C>A (p.Pro1692=) c.5067C>A (p.Pro1689=) c.4953C>A (p.Pro1651=) c.2937C>A (p.Pro979=) c.627C>A (p.Pro209=) n.5326C>A | |
18 | g.23876353C= | CA2290312346 | LAMA3 | c.231C= (p.Pro77=) c.5058C= (p.Pro1686=) c.1950C= (p.Pro650=) c.5085C= (p.Pro1695=) c.5076C= (p.Pro1692=) c.5067C= (p.Pro1689=) c.4953C= (p.Pro1651=) c.2937C= (p.Pro979=) c.627C= (p.Pro209=) n.5326C= | |
18 | g.23876353C>G | CA503327891 | LAMA3 | c.231C>G (p.Pro77=) c.5058C>G (p.Pro1686=) c.1950C>G (p.Pro650=) c.5085C>G (p.Pro1695=) c.5076C>G (p.Pro1692=) c.5067C>G (p.Pro1689=) c.4953C>G (p.Pro1651=) c.2937C>G (p.Pro979=) c.627C>G (p.Pro209=) n.5326C>G | |
18 | g.23876353C>T | CA8915875 | LAMA3 | c.231C>T (p.Pro77=) c.5058C>T (p.Pro1686=) c.1950C>T (p.Pro650=) c.5085C>T (p.Pro1695=) c.5076C>T (p.Pro1692=) c.5067C>T (p.Pro1689=) c.4953C>T (p.Pro1651=) c.2937C>T (p.Pro979=) c.627C>T (p.Pro209=) n.5326C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23876354T>A | CA402044973 | LAMA3 | c.232T>A (p.Cys78Ser) c.5059T>A (p.Cys1687Ser) c.1951T>A (p.Cys651Ser) c.5086T>A (p.Cys1696Ser) c.5077T>A (p.Cys1693Ser) c.5068T>A (p.Cys1690Ser) c.4954T>A (p.Cys1652Ser) c.2938T>A (p.Cys980Ser) c.628T>A (p.Cys210Ser) n.5327T>A | |
18 | g.23876354T>C | CA402044974 | LAMA3 | c.232T>C (p.Cys78Arg) c.5059T>C (p.Cys1687Arg) c.1951T>C (p.Cys651Arg) c.5086T>C (p.Cys1696Arg) c.5077T>C (p.Cys1693Arg) c.5068T>C (p.Cys1690Arg) c.4954T>C (p.Cys1652Arg) c.2938T>C (p.Cys980Arg) c.628T>C (p.Cys210Arg) n.5327T>C | |
18 | g.23876354T>G | CA402044975 | LAMA3 | c.232T>G (p.Cys78Gly) c.5059T>G (p.Cys1687Gly) c.1951T>G (p.Cys651Gly) c.5086T>G (p.Cys1696Gly) c.5077T>G (p.Cys1693Gly) c.5068T>G (p.Cys1690Gly) c.4954T>G (p.Cys1652Gly) c.2938T>G (p.Cys980Gly) c.628T>G (p.Cys210Gly) n.5327T>G | |
18 | g.23876355G>A | CA402044976 | LAMA3 | c.233G>A (p.Cys78Tyr) c.5060G>A (p.Cys1687Tyr) c.1952G>A (p.Cys651Tyr) c.5087G>A (p.Cys1696Tyr) c.5078G>A (p.Cys1693Tyr) c.5069G>A (p.Cys1690Tyr) c.4955G>A (p.Cys1652Tyr) c.2939G>A (p.Cys980Tyr) c.629G>A (p.Cys210Tyr) n.5328G>A | |
18 | g.23876355G>C | CA402044977 | LAMA3 | c.233G>C (p.Cys78Ser) c.5060G>C (p.Cys1687Ser) c.1952G>C (p.Cys651Ser) c.5087G>C (p.Cys1696Ser) c.5078G>C (p.Cys1693Ser) c.5069G>C (p.Cys1690Ser) c.4955G>C (p.Cys1652Ser) c.2939G>C (p.Cys980Ser) c.629G>C (p.Cys210Ser) n.5328G>C | |
18 | g.23876355G>T | CA402044978 | LAMA3 | c.233G>T (p.Cys78Phe) c.5060G>T (p.Cys1687Phe) c.1952G>T (p.Cys651Phe) c.5087G>T (p.Cys1696Phe) c.5078G>T (p.Cys1693Phe) c.5069G>T (p.Cys1690Phe) c.4955G>T (p.Cys1652Phe) c.2939G>T (p.Cys980Phe) c.629G>T (p.Cys210Phe) n.5328G>T | |
18 | g.23876356C>A | CA402044979 | LAMA3 | c.234C>A (p.Cys78Ter) c.5061C>A (p.Cys1687Ter) c.1953C>A (p.Cys651Ter) c.5088C>A (p.Cys1696Ter) c.5079C>A (p.Cys1693Ter) c.5070C>A (p.Cys1690Ter) c.4956C>A (p.Cys1652Ter) c.2940C>A (p.Cys980Ter) c.630C>A (p.Cys210Ter) n.5329C>A | ClinVar dbSNP |
18 | g.23876356C>G | CA402044980 | LAMA3 | c.234C>G (p.Cys78Trp) c.5061C>G (p.Cys1687Trp) c.1953C>G (p.Cys651Trp) c.5088C>G (p.Cys1696Trp) c.5079C>G (p.Cys1693Trp) c.5070C>G (p.Cys1690Trp) c.4956C>G (p.Cys1652Trp) c.2940C>G (p.Cys980Trp) c.630C>G (p.Cys210Trp) n.5329C>G | |
18 | g.23876356C>T | CA503327894 | LAMA3 | c.234C>T (p.Cys78=) c.5061C>T (p.Cys1687=) c.1953C>T (p.Cys651=) c.5088C>T (p.Cys1696=) c.5079C>T (p.Cys1693=) c.5070C>T (p.Cys1690=) c.4956C>T (p.Cys1652=) c.2940C>T (p.Cys980=) c.630C>T (p.Cys210=) n.5329C>T | gnomAD v4 |
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= |