Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.23876320T>ACA402044903LAMA3c.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
18g.23876320T>CCA503327834LAMA3c.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
18g.23876320T>GCA402044904LAMA3c.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
18g.23876321C>ACA402044905LAMA3c.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
18g.23876321C>GCA402044906LAMA3c.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
18g.23876321C>TCA402044907LAMA3c.199C>T (p.His67Tyr)
c.5026C>T (p.His1676Tyr)
c.1918C>T (p.His640Tyr)
c.5053C>T (p.His1685Tyr)
c.5044C>T (p.His1682Tyr)
c.5035C>T (p.His1679Tyr)
c.4921C>T (p.His1641Tyr)
c.2905C>T (p.His969Tyr)
c.595C>T (p.His199Tyr)
n.5294C>T
18g.23876322A=CA2290312333LAMA3c.200A= (p.His67=)
c.5027A= (p.His1676=)
c.1919A= (p.His640=)
c.5054A= (p.His1685=)
c.5045A= (p.His1682=)
c.5036A= (p.His1679=)
c.4922A= (p.His1641=)
c.2906A= (p.His969=)
c.596A= (p.His199=)
n.5295A=
18g.23876322A>CCA8915867LAMA3c.200A>C (p.His67Pro)
c.5027A>C (p.His1676Pro)
c.1919A>C (p.His640Pro)
c.5054A>C (p.His1685Pro)
c.5045A>C (p.His1682Pro)
c.5036A>C (p.His1679Pro)
c.4922A>C (p.His1641Pro)
c.2906A>C (p.His969Pro)
c.596A>C (p.His199Pro)
n.5295A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23876322A>GCA402044908LAMA3c.200A>G (p.His67Arg)
c.5027A>G (p.His1676Arg)
c.1919A>G (p.His640Arg)
c.5054A>G (p.His1685Arg)
c.5045A>G (p.His1682Arg)
c.5036A>G (p.His1679Arg)
c.4922A>G (p.His1641Arg)
c.2906A>G (p.His969Arg)
c.596A>G (p.His199Arg)
n.5295A>G
 dbSNP gnomAD v3 gnomAD v4
18g.23876322A>TCA402044909LAMA3c.200A>T (p.His67Leu)
c.5027A>T (p.His1676Leu)
c.1919A>T (p.His640Leu)
c.5054A>T (p.His1685Leu)
c.5045A>T (p.His1682Leu)
c.5036A>T (p.His1679Leu)
c.4922A>T (p.His1641Leu)
c.2906A>T (p.His969Leu)
c.596A>T (p.His199Leu)
n.5295A>T
18g.23876323T>ACA402044911LAMA3c.201T>A (p.His67Gln)
c.5028T>A (p.His1676Gln)
c.1920T>A (p.His640Gln)
c.5055T>A (p.His1685Gln)
c.5046T>A (p.His1682Gln)
c.5037T>A (p.His1679Gln)
c.4923T>A (p.His1641Gln)
c.2907T>A (p.His969Gln)
c.597T>A (p.His199Gln)
n.5296T>A
18g.23876323T>CCA503327839LAMA3c.201T>C (p.His67=)
c.5028T>C (p.His1676=)
c.1920T>C (p.His640=)
c.5055T>C (p.His1685=)
c.5046T>C (p.His1682=)
c.5037T>C (p.His1679=)
c.4923T>C (p.His1641=)
c.2907T>C (p.His969=)
c.597T>C (p.His199=)
n.5296T>C
18g.23876323T>GCA402044910LAMA3c.201T>G (p.His67Gln)
c.5028T>G (p.His1676Gln)
c.1920T>G (p.His640Gln)
c.5055T>G (p.His1685Gln)
c.5046T>G (p.His1682Gln)
c.5037T>G (p.His1679Gln)
c.4923T>G (p.His1641Gln)
c.2907T>G (p.His969Gln)
c.597T>G (p.His199Gln)
n.5296T>G
18g.23876324A>CCA402044912LAMA3c.202A>C (p.Lys68Gln)
c.5029A>C (p.Lys1677Gln)
c.1921A>C (p.Lys641Gln)
c.5056A>C (p.Lys1686Gln)
c.5047A>C (p.Lys1683Gln)
c.5038A>C (p.Lys1680Gln)
c.4924A>C (p.Lys1642Gln)
c.2908A>C (p.Lys970Gln)
c.598A>C (p.Lys200Gln)
n.5297A>C
18g.23876324A>GCA402044913LAMA3c.202A>G (p.Lys68Glu)
c.5029A>G (p.Lys1677Glu)
c.1921A>G (p.Lys641Glu)
c.5056A>G (p.Lys1686Glu)
c.5047A>G (p.Lys1683Glu)
c.5038A>G (p.Lys1680Glu)
c.4924A>G (p.Lys1642Glu)
c.2908A>G (p.Lys970Glu)
c.598A>G (p.Lys200Glu)
n.5297A>G
18g.23876324A>TCA402044914LAMA3c.202A>T (p.Lys68Ter)
c.5029A>T (p.Lys1677Ter)
c.1921A>T (p.Lys641Ter)
c.5056A>T (p.Lys1686Ter)
c.5047A>T (p.Lys1683Ter)
c.5038A>T (p.Lys1680Ter)
c.4924A>T (p.Lys1642Ter)
c.2908A>T (p.Lys970Ter)
c.598A>T (p.Lys200Ter)
n.5297A>T
18g.23876325A>CCA402044915LAMA3c.203A>C (p.Lys68Thr)
c.5030A>C (p.Lys1677Thr)
c.1922A>C (p.Lys641Thr)
c.5057A>C (p.Lys1686Thr)
c.5048A>C (p.Lys1683Thr)
c.5039A>C (p.Lys1680Thr)
c.4925A>C (p.Lys1642Thr)
c.2909A>C (p.Lys970Thr)
c.599A>C (p.Lys200Thr)
n.5298A>C
18g.23876325A>GCA402044916LAMA3c.203A>G (p.Lys68Arg)
c.5030A>G (p.Lys1677Arg)
c.1922A>G (p.Lys641Arg)
c.5057A>G (p.Lys1686Arg)
c.5048A>G (p.Lys1683Arg)
c.5039A>G (p.Lys1680Arg)
c.4925A>G (p.Lys1642Arg)
c.2909A>G (p.Lys970Arg)
c.599A>G (p.Lys200Arg)
n.5298A>G
18g.23876325A>TCA402044917LAMA3c.203A>T (p.Lys68Ile)
c.5030A>T (p.Lys1677Ile)
c.1922A>T (p.Lys641Ile)
c.5057A>T (p.Lys1686Ile)
c.5048A>T (p.Lys1683Ile)
c.5039A>T (p.Lys1680Ile)
c.4925A>T (p.Lys1642Ile)
c.2909A>T (p.Lys970Ile)
c.599A>T (p.Lys200Ile)
n.5298A>T
18g.23876326A>CCA402044918LAMA3c.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
18g.23876326A>GCA503327842LAMA3c.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
18g.23876326A>TCA402044919LAMA3c.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
18g.23876327G>ACA402044920LAMA3c.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
18g.23876327G>CCA402044921LAMA3c.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
18g.23876327G=CA2290312334LAMA3c.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=
18g.23876327G>TCA402044922LAMA3c.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
18g.23876328G>ACA402044923LAMA3c.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
18g.23876328G>CCA402044924LAMA3c.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
18g.23876328G=CA2290312335LAMA3c.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=
18g.23876328G>TCA402044925LAMA3c.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
18g.23876329C>ACA503327847LAMA3c.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
18g.23876329C>GCA503327848LAMA3c.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
18g.23876329C>TCA503327850LAMA3c.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
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

Number of alleles fetched