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