Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
18g.23876344delCA8915872LAMA3c.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
18g.23876344G>ACA503327879LAMA3c.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
18g.23876344G>CCA8915874LAMA3c.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
18g.23876344G=CA2290312344LAMA3c.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=
18g.23876344G>TCA503327880LAMA3c.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
18g.23876345T>ACA402044953LAMA3c.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
18g.23876345T>CCA402044955LAMA3c.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
18g.23876345T>GCA402044954LAMA3c.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
18g.23876345T=CA2290312345LAMA3c.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=
18g.23876346G>ACA402044956LAMA3c.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
18g.23876346G>CCA402044957LAMA3c.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
18g.23876346G>TCA402044958LAMA3c.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
18g.23876347T>ACA402044959LAMA3c.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
18g.23876347T>CCA503327884LAMA3c.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
18g.23876347T>GCA402044960LAMA3c.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
18g.23876348G>ACA402044963LAMA3c.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
18g.23876348G>CCA402044962LAMA3c.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

Number of alleles fetched