Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.23876330T>ACA402044926LAMA3c.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
18g.23876330T>CCA503327851LAMA3c.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
18g.23876330T>GCA402044927LAMA3c.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
18g.23876331T>ACA402044928LAMA3c.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
18g.23876331T>CCA402044929LAMA3c.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
18g.23876331T>GCA402044930LAMA3c.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
18g.23876332G>ACA503327854LAMA3c.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
18g.23876332G>CCA402044931LAMA3c.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
18g.23876332G>TCA402044932LAMA3c.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
18g.23876333T>ACA402044933LAMA3c.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
18g.23876333T>CCA297091427LAMA3c.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
18g.23876333T>GCA402044934LAMA3c.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
18g.23876333T=CA2290312336LAMA3c.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=
18g.23876334A=CA2290312337LAMA3c.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=
18g.23876334A>CCA402044935LAMA3c.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
18g.23876334A>GCA8915868LAMA3c.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
18g.23876334A>TCA402044936LAMA3c.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
18g.23876335T>ACA402044937LAMA3c.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
18g.23876335T>CCA503327863LAMA3c.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
18g.23876335T>GCA402044938LAMA3c.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
18g.23876336A>CCA402044941LAMA3c.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
18g.23876336A>GCA402044939LAMA3c.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
18g.23876336A>TCA402044940LAMA3c.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
18g.23876337C>ACA402044942LAMA3c.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
18g.23876337C>GCA402044943LAMA3c.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
18g.23876337C>TCA402044944LAMA3c.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
18g.23876338C>ACA503327867LAMA3c.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
18g.23876338C=CA2290312338LAMA3c.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=
18g.23876338C>GCA503327868LAMA3c.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
18g.23876338C>TCA8915869LAMA3c.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
18g.23876339G>ACA8915870LAMA3c.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
18g.23876339G>CCA402044945LAMA3c.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
18g.23876339G=CA2290312339LAMA3c.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=
18g.23876339G>TCA402044946LAMA3c.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
18g.23876340G>ACA402044947LAMA3c.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
18g.23876340G>CCA402044948LAMA3c.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
18g.23876340G>TCA402044949LAMA3c.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
18g.23876341A=CA2290312340LAMA3c.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=
18g.23876341A>CCA503327874LAMA3c.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
18g.23876341A>GCA297091428LAMA3c.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
18g.23876341A>TCA503327872LAMA3c.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
18g.23876342C>ACA503327875LAMA3c.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
18g.23876342C=CA2290312341LAMA3c.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=
18g.23876342C>GCA402044950LAMA3c.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
18g.23876342C>TCA8915871LAMA3c.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
18g.23876342_23876343delinsCGCA2290312342LAMA3c.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
18g.23876343G>ACA8915873LAMA3c.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
18g.23876343G>CCA402044951LAMA3c.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
18g.23876343G=CA2290312343LAMA3c.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=
18g.23876343G>TCA402044952LAMA3c.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

Number of alleles fetched