Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |