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