Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.23876318G>ACA402044899LAMA3c.196G>A (p.Asp66Asn)
c.5023G>A (p.Asp1675Asn)
c.1915G>A (p.Asp639Asn)
c.5050G>A (p.Asp1684Asn)
c.5041G>A (p.Asp1681Asn)
c.5032G>A (p.Asp1678Asn)
c.4918G>A (p.Asp1640Asn)
c.2902G>A (p.Asp968Asn)
c.592G>A (p.Asp198Asn)
n.5291G>A
 gnomAD v4
18g.23876318G>CCA402044897LAMA3c.196G>C (p.Asp66His)
c.5023G>C (p.Asp1675His)
c.1915G>C (p.Asp639His)
c.5050G>C (p.Asp1684His)
c.5041G>C (p.Asp1681His)
c.5032G>C (p.Asp1678His)
c.4918G>C (p.Asp1640His)
c.2902G>C (p.Asp968His)
c.592G>C (p.Asp198His)
n.5291G>C
18g.23876318G>TCA402044898LAMA3c.196G>T (p.Asp66Tyr)
c.5023G>T (p.Asp1675Tyr)
c.1915G>T (p.Asp639Tyr)
c.5050G>T (p.Asp1684Tyr)
c.5041G>T (p.Asp1681Tyr)
c.5032G>T (p.Asp1678Tyr)
c.4918G>T (p.Asp1640Tyr)
c.2902G>T (p.Asp968Tyr)
c.592G>T (p.Asp198Tyr)
n.5291G>T
 gnomAD v4
18g.23876319A=CA2290312332LAMA3c.197A= (p.Asp66=)
c.5024A= (p.Asp1675=)
c.1916A= (p.Asp639=)
c.5051A= (p.Asp1684=)
c.5042A= (p.Asp1681=)
c.5033A= (p.Asp1678=)
c.4919A= (p.Asp1640=)
c.2903A= (p.Asp968=)
c.593A= (p.Asp198=)
n.5292A=
18g.23876319A>CCA402044900LAMA3c.197A>C (p.Asp66Ala)
c.5024A>C (p.Asp1675Ala)
c.1916A>C (p.Asp639Ala)
c.5051A>C (p.Asp1684Ala)
c.5042A>C (p.Asp1681Ala)
c.5033A>C (p.Asp1678Ala)
c.4919A>C (p.Asp1640Ala)
c.2903A>C (p.Asp968Ala)
c.593A>C (p.Asp198Ala)
n.5292A>C
18g.23876319A>GCA402044901LAMA3c.197A>G (p.Asp66Gly)
c.5024A>G (p.Asp1675Gly)
c.1916A>G (p.Asp639Gly)
c.5051A>G (p.Asp1684Gly)
c.5042A>G (p.Asp1681Gly)
c.5033A>G (p.Asp1678Gly)
c.4919A>G (p.Asp1640Gly)
c.2903A>G (p.Asp968Gly)
c.593A>G (p.Asp198Gly)
n.5292A>G
 dbSNP gnomAD v3 gnomAD v4
18g.23876319A>TCA402044902LAMA3c.197A>T (p.Asp66Val)
c.5024A>T (p.Asp1675Val)
c.1916A>T (p.Asp639Val)
c.5051A>T (p.Asp1684Val)
c.5042A>T (p.Asp1681Val)
c.5033A>T (p.Asp1678Val)
c.4919A>T (p.Asp1640Val)
c.2903A>T (p.Asp968Val)
c.593A>T (p.Asp198Val)
n.5292A>T
 gnomAD v4
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
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
18g.23876348G>TCA402044961LAMA3c.226G>T (p.Val76Phe)
c.5053G>T (p.Val1685Phe)
c.1945G>T (p.Val649Phe)
c.5080G>T (p.Val1694Phe)
c.5071G>T (p.Val1691Phe)
c.5062G>T (p.Val1688Phe)
c.4948G>T (p.Val1650Phe)
c.2932G>T (p.Val978Phe)
c.622G>T (p.Val208Phe)
n.5321G>T
18g.23876349T>ACA402044964LAMA3c.227T>A (p.Val76Asp)
c.5054T>A (p.Val1685Asp)
c.1946T>A (p.Val649Asp)
c.5081T>A (p.Val1694Asp)
c.5072T>A (p.Val1691Asp)
c.5063T>A (p.Val1688Asp)
c.4949T>A (p.Val1650Asp)
c.2933T>A (p.Val978Asp)
c.623T>A (p.Val208Asp)
n.5322T>A
18g.23876349T>CCA402044965LAMA3c.227T>C (p.Val76Ala)
c.5054T>C (p.Val1685Ala)
c.1946T>C (p.Val649Ala)
c.5081T>C (p.Val1694Ala)
c.5072T>C (p.Val1691Ala)
c.5063T>C (p.Val1688Ala)
c.4949T>C (p.Val1650Ala)
c.2933T>C (p.Val978Ala)
c.623T>C (p.Val208Ala)
n.5322T>C
18g.23876349T>GCA402044966LAMA3c.227T>G (p.Val76Gly)
c.5054T>G (p.Val1685Gly)
c.1946T>G (p.Val649Gly)
c.5081T>G (p.Val1694Gly)
c.5072T>G (p.Val1691Gly)
c.5063T>G (p.Val1688Gly)
c.4949T>G (p.Val1650Gly)
c.2933T>G (p.Val978Gly)
c.623T>G (p.Val208Gly)
n.5322T>G
18g.23876350T>ACA503327886LAMA3c.228T>A (p.Val76=)
c.5055T>A (p.Val1685=)
c.1947T>A (p.Val649=)
c.5082T>A (p.Val1694=)
c.5073T>A (p.Val1691=)
c.5064T>A (p.Val1688=)
c.4950T>A (p.Val1650=)
c.2934T>A (p.Val978=)
c.624T>A (p.Val208=)
n.5323T>A
18g.23876350T>CCA503327887LAMA3c.228T>C (p.Val76=)
c.5055T>C (p.Val1685=)
c.1947T>C (p.Val649=)
c.5082T>C (p.Val1694=)
c.5073T>C (p.Val1691=)
c.5064T>C (p.Val1688=)
c.4950T>C (p.Val1650=)
c.2934T>C (p.Val978=)
c.624T>C (p.Val208=)
n.5323T>C
18g.23876350T>GCA503327888LAMA3c.228T>G (p.Val76=)
c.5055T>G (p.Val1685=)
c.1947T>G (p.Val649=)
c.5082T>G (p.Val1694=)
c.5073T>G (p.Val1691=)
c.5064T>G (p.Val1688=)
c.4950T>G (p.Val1650=)
c.2934T>G (p.Val978=)
c.624T>G (p.Val208=)
n.5323T>G
18g.23876351C>ACA402044967LAMA3c.229C>A (p.Pro77Thr)
c.5056C>A (p.Pro1686Thr)
c.1948C>A (p.Pro650Thr)
c.5083C>A (p.Pro1695Thr)
c.5074C>A (p.Pro1692Thr)
c.5065C>A (p.Pro1689Thr)
c.4951C>A (p.Pro1651Thr)
c.2935C>A (p.Pro979Thr)
c.625C>A (p.Pro209Thr)
n.5324C>A
18g.23876351C>GCA402044968LAMA3c.229C>G (p.Pro77Ala)
c.5056C>G (p.Pro1686Ala)
c.1948C>G (p.Pro650Ala)
c.5083C>G (p.Pro1695Ala)
c.5074C>G (p.Pro1692Ala)
c.5065C>G (p.Pro1689Ala)
c.4951C>G (p.Pro1651Ala)
c.2935C>G (p.Pro979Ala)
c.625C>G (p.Pro209Ala)
n.5324C>G
18g.23876351C>TCA402044969LAMA3c.229C>T (p.Pro77Ser)
c.5056C>T (p.Pro1686Ser)
c.1948C>T (p.Pro650Ser)
c.5083C>T (p.Pro1695Ser)
c.5074C>T (p.Pro1692Ser)
c.5065C>T (p.Pro1689Ser)
c.4951C>T (p.Pro1651Ser)
c.2935C>T (p.Pro979Ser)
c.625C>T (p.Pro209Ser)
n.5324C>T
18g.23876352C>ACA402044972LAMA3c.230C>A (p.Pro77His)
c.5057C>A (p.Pro1686His)
c.1949C>A (p.Pro650His)
c.5084C>A (p.Pro1695His)
c.5075C>A (p.Pro1692His)
c.5066C>A (p.Pro1689His)
c.4952C>A (p.Pro1651His)
c.2936C>A (p.Pro979His)
c.626C>A (p.Pro209His)
n.5325C>A
18g.23876352C>GCA402044970LAMA3c.230C>G (p.Pro77Arg)
c.5057C>G (p.Pro1686Arg)
c.1949C>G (p.Pro650Arg)
c.5084C>G (p.Pro1695Arg)
c.5075C>G (p.Pro1692Arg)
c.5066C>G (p.Pro1689Arg)
c.4952C>G (p.Pro1651Arg)
c.2936C>G (p.Pro979Arg)
c.626C>G (p.Pro209Arg)
n.5325C>G
18g.23876352C>TCA402044971LAMA3c.230C>T (p.Pro77Leu)
c.5057C>T (p.Pro1686Leu)
c.1949C>T (p.Pro650Leu)
c.5084C>T (p.Pro1695Leu)
c.5075C>T (p.Pro1692Leu)
c.5066C>T (p.Pro1689Leu)
c.4952C>T (p.Pro1651Leu)
c.2936C>T (p.Pro979Leu)
c.626C>T (p.Pro209Leu)
n.5325C>T
18g.23876353C>ACA503327890LAMA3c.231C>A (p.Pro77=)
c.5058C>A (p.Pro1686=)
c.1950C>A (p.Pro650=)
c.5085C>A (p.Pro1695=)
c.5076C>A (p.Pro1692=)
c.5067C>A (p.Pro1689=)
c.4953C>A (p.Pro1651=)
c.2937C>A (p.Pro979=)
c.627C>A (p.Pro209=)
n.5326C>A
18g.23876353C=CA2290312346LAMA3c.231C= (p.Pro77=)
c.5058C= (p.Pro1686=)
c.1950C= (p.Pro650=)
c.5085C= (p.Pro1695=)
c.5076C= (p.Pro1692=)
c.5067C= (p.Pro1689=)
c.4953C= (p.Pro1651=)
c.2937C= (p.Pro979=)
c.627C= (p.Pro209=)
n.5326C=
18g.23876353C>GCA503327891LAMA3c.231C>G (p.Pro77=)
c.5058C>G (p.Pro1686=)
c.1950C>G (p.Pro650=)
c.5085C>G (p.Pro1695=)
c.5076C>G (p.Pro1692=)
c.5067C>G (p.Pro1689=)
c.4953C>G (p.Pro1651=)
c.2937C>G (p.Pro979=)
c.627C>G (p.Pro209=)
n.5326C>G
18g.23876353C>TCA8915875LAMA3c.231C>T (p.Pro77=)
c.5058C>T (p.Pro1686=)
c.1950C>T (p.Pro650=)
c.5085C>T (p.Pro1695=)
c.5076C>T (p.Pro1692=)
c.5067C>T (p.Pro1689=)
c.4953C>T (p.Pro1651=)
c.2937C>T (p.Pro979=)
c.627C>T (p.Pro209=)
n.5326C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23876354T>ACA402044973LAMA3c.232T>A (p.Cys78Ser)
c.5059T>A (p.Cys1687Ser)
c.1951T>A (p.Cys651Ser)
c.5086T>A (p.Cys1696Ser)
c.5077T>A (p.Cys1693Ser)
c.5068T>A (p.Cys1690Ser)
c.4954T>A (p.Cys1652Ser)
c.2938T>A (p.Cys980Ser)
c.628T>A (p.Cys210Ser)
n.5327T>A
18g.23876354T>CCA402044974LAMA3c.232T>C (p.Cys78Arg)
c.5059T>C (p.Cys1687Arg)
c.1951T>C (p.Cys651Arg)
c.5086T>C (p.Cys1696Arg)
c.5077T>C (p.Cys1693Arg)
c.5068T>C (p.Cys1690Arg)
c.4954T>C (p.Cys1652Arg)
c.2938T>C (p.Cys980Arg)
c.628T>C (p.Cys210Arg)
n.5327T>C
18g.23876354T>GCA402044975LAMA3c.232T>G (p.Cys78Gly)
c.5059T>G (p.Cys1687Gly)
c.1951T>G (p.Cys651Gly)
c.5086T>G (p.Cys1696Gly)
c.5077T>G (p.Cys1693Gly)
c.5068T>G (p.Cys1690Gly)
c.4954T>G (p.Cys1652Gly)
c.2938T>G (p.Cys980Gly)
c.628T>G (p.Cys210Gly)
n.5327T>G
18g.23876355G>ACA402044976LAMA3c.233G>A (p.Cys78Tyr)
c.5060G>A (p.Cys1687Tyr)
c.1952G>A (p.Cys651Tyr)
c.5087G>A (p.Cys1696Tyr)
c.5078G>A (p.Cys1693Tyr)
c.5069G>A (p.Cys1690Tyr)
c.4955G>A (p.Cys1652Tyr)
c.2939G>A (p.Cys980Tyr)
c.629G>A (p.Cys210Tyr)
n.5328G>A
18g.23876355G>CCA402044977LAMA3c.233G>C (p.Cys78Ser)
c.5060G>C (p.Cys1687Ser)
c.1952G>C (p.Cys651Ser)
c.5087G>C (p.Cys1696Ser)
c.5078G>C (p.Cys1693Ser)
c.5069G>C (p.Cys1690Ser)
c.4955G>C (p.Cys1652Ser)
c.2939G>C (p.Cys980Ser)
c.629G>C (p.Cys210Ser)
n.5328G>C
18g.23876355G>TCA402044978LAMA3c.233G>T (p.Cys78Phe)
c.5060G>T (p.Cys1687Phe)
c.1952G>T (p.Cys651Phe)
c.5087G>T (p.Cys1696Phe)
c.5078G>T (p.Cys1693Phe)
c.5069G>T (p.Cys1690Phe)
c.4955G>T (p.Cys1652Phe)
c.2939G>T (p.Cys980Phe)
c.629G>T (p.Cys210Phe)
n.5328G>T
18g.23876356C>ACA402044979LAMA3c.234C>A (p.Cys78Ter)
c.5061C>A (p.Cys1687Ter)
c.1953C>A (p.Cys651Ter)
c.5088C>A (p.Cys1696Ter)
c.5079C>A (p.Cys1693Ter)
c.5070C>A (p.Cys1690Ter)
c.4956C>A (p.Cys1652Ter)
c.2940C>A (p.Cys980Ter)
c.630C>A (p.Cys210Ter)
n.5329C>A
 ClinVar dbSNP
18g.23876356C>GCA402044980LAMA3c.234C>G (p.Cys78Trp)
c.5061C>G (p.Cys1687Trp)
c.1953C>G (p.Cys651Trp)
c.5088C>G (p.Cys1696Trp)
c.5079C>G (p.Cys1693Trp)
c.5070C>G (p.Cys1690Trp)
c.4956C>G (p.Cys1652Trp)
c.2940C>G (p.Cys980Trp)
c.630C>G (p.Cys210Trp)
n.5329C>G
18g.23876356C>TCA503327894LAMA3c.234C>T (p.Cys78=)
c.5061C>T (p.Cys1687=)
c.1953C>T (p.Cys651=)
c.5088C>T (p.Cys1696=)
c.5079C>T (p.Cys1693=)
c.5070C>T (p.Cys1690=)
c.4956C>T (p.Cys1652=)
c.2940C>T (p.Cys980=)
c.630C>T (p.Cys210=)
n.5329C>T
 gnomAD v4
18g.23876357A=CA2290312347LAMA3c.235A= (p.Asn79=)
c.5062A= (p.Asn1688=)
c.1954A= (p.Asn652=)
c.5089A= (p.Asn1697=)
c.5080A= (p.Asn1694=)
c.5071A= (p.Asn1691=)
c.4957A= (p.Asn1653=)
c.2941A= (p.Asn981=)
c.631A= (p.Asn211=)
n.5330A=
18g.23876357A>CCA402044981LAMA3c.235A>C (p.Asn79His)
c.5062A>C (p.Asn1688His)
c.1954A>C (p.Asn652His)
c.5089A>C (p.Asn1697His)
c.5080A>C (p.Asn1694His)
c.5071A>C (p.Asn1691His)
c.4957A>C (p.Asn1653His)
c.2941A>C (p.Asn981His)
c.631A>C (p.Asn211His)
n.5330A>C
18g.23876357A>GCA402044982LAMA3c.235A>G (p.Asn79Asp)
c.5062A>G (p.Asn1688Asp)
c.1954A>G (p.Asn652Asp)
c.5089A>G (p.Asn1697Asp)
c.5080A>G (p.Asn1694Asp)
c.5071A>G (p.Asn1691Asp)
c.4957A>G (p.Asn1653Asp)
c.2941A>G (p.Asn981Asp)
c.631A>G (p.Asn211Asp)
n.5330A>G
 dbSNP gnomAD v3 gnomAD v4
18g.23876357A>TCA402044983LAMA3c.235A>T (p.Asn79Tyr)
c.5062A>T (p.Asn1688Tyr)
c.1954A>T (p.Asn652Tyr)
c.5089A>T (p.Asn1697Tyr)
c.5080A>T (p.Asn1694Tyr)
c.5071A>T (p.Asn1691Tyr)
c.4957A>T (p.Asn1653Tyr)
c.2941A>T (p.Asn981Tyr)
c.631A>T (p.Asn211Tyr)
n.5330A>T
18g.23876358A=CA2290312348LAMA3c.236A= (p.Asn79=)
c.5063A= (p.Asn1688=)
c.1955A= (p.Asn652=)
c.5090A= (p.Asn1697=)
c.5081A= (p.Asn1694=)
c.5072A= (p.Asn1691=)
c.4958A= (p.Asn1653=)
c.2942A= (p.Asn981=)
c.632A= (p.Asn211=)
n.5331A=
18g.23876358A>CCA402044984LAMA3c.236A>C (p.Asn79Thr)
c.5063A>C (p.Asn1688Thr)
c.1955A>C (p.Asn652Thr)
c.5090A>C (p.Asn1697Thr)
c.5081A>C (p.Asn1694Thr)
c.5072A>C (p.Asn1691Thr)
c.4958A>C (p.Asn1653Thr)
c.2942A>C (p.Asn981Thr)
c.632A>C (p.Asn211Thr)
n.5331A>C
18g.23876358A>GCA8915876LAMA3c.236A>G (p.Asn79Ser)
c.5063A>G (p.Asn1688Ser)
c.1955A>G (p.Asn652Ser)
c.5090A>G (p.Asn1697Ser)
c.5081A>G (p.Asn1694Ser)
c.5072A>G (p.Asn1691Ser)
c.4958A>G (p.Asn1653Ser)
c.2942A>G (p.Asn981Ser)
c.632A>G (p.Asn211Ser)
n.5331A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23876358A>TCA8915877LAMA3c.236A>T (p.Asn79Ile)
c.5063A>T (p.Asn1688Ile)
c.1955A>T (p.Asn652Ile)
c.5090A>T (p.Asn1697Ile)
c.5081A>T (p.Asn1694Ile)
c.5072A>T (p.Asn1691Ile)
c.4958A>T (p.Asn1653Ile)
c.2942A>T (p.Asn981Ile)
c.632A>T (p.Asn211Ile)
n.5331A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23876359T>ACA402044985LAMA3c.237T>A (p.Asn79Lys)
c.5064T>A (p.Asn1688Lys)
c.1956T>A (p.Asn652Lys)
c.5091T>A (p.Asn1697Lys)
c.5082T>A (p.Asn1694Lys)
c.5073T>A (p.Asn1691Lys)
c.4959T>A (p.Asn1653Lys)
c.2943T>A (p.Asn981Lys)
c.633T>A (p.Asn211Lys)
n.5332T>A
18g.23876359T>CCA503327898LAMA3c.237T>C (p.Asn79=)
c.5064T>C (p.Asn1688=)
c.1956T>C (p.Asn652=)
c.5091T>C (p.Asn1697=)
c.5082T>C (p.Asn1694=)
c.5073T>C (p.Asn1691=)
c.4959T>C (p.Asn1653=)
c.2943T>C (p.Asn981=)
c.633T>C (p.Asn211=)
n.5332T>C
18g.23876359T>GCA402044986LAMA3c.237T>G (p.Asn79Lys)
c.5064T>G (p.Asn1688Lys)
c.1956T>G (p.Asn652Lys)
c.5091T>G (p.Asn1697Lys)
c.5082T>G (p.Asn1694Lys)
c.5073T>G (p.Asn1691Lys)
c.4959T>G (p.Asn1653Lys)
c.2943T>G (p.Asn981Lys)
c.633T>G (p.Asn211Lys)
n.5332T>G
18g.23876360T>ACA402044987LAMA3c.238T>A (p.Cys80Ser)
c.5065T>A (p.Cys1689Ser)
c.1957T>A (p.Cys653Ser)
c.5092T>A (p.Cys1698Ser)
c.5083T>A (p.Cys1695Ser)
c.5074T>A (p.Cys1692Ser)
c.4960T>A (p.Cys1654Ser)
c.2944T>A (p.Cys982Ser)
c.634T>A (p.Cys212Ser)
n.5333T>A
18g.23876360T>CCA402044988LAMA3c.238T>C (p.Cys80Arg)
c.5065T>C (p.Cys1689Arg)
c.1957T>C (p.Cys653Arg)
c.5092T>C (p.Cys1698Arg)
c.5083T>C (p.Cys1695Arg)
c.5074T>C (p.Cys1692Arg)
c.4960T>C (p.Cys1654Arg)
c.2944T>C (p.Cys982Arg)
c.634T>C (p.Cys212Arg)
n.5333T>C
18g.23876360T>GCA402044989LAMA3c.238T>G (p.Cys80Gly)
c.5065T>G (p.Cys1689Gly)
c.1957T>G (p.Cys653Gly)
c.5092T>G (p.Cys1698Gly)
c.5083T>G (p.Cys1695Gly)
c.5074T>G (p.Cys1692Gly)
c.4960T>G (p.Cys1654Gly)
c.2944T>G (p.Cys982Gly)
c.634T>G (p.Cys212Gly)
n.5333T>G
18g.23876361G>ACA8915878LAMA3c.239G>A (p.Cys80Tyr)
c.5066G>A (p.Cys1689Tyr)
c.1958G>A (p.Cys653Tyr)
c.5093G>A (p.Cys1698Tyr)
c.5084G>A (p.Cys1695Tyr)
c.5075G>A (p.Cys1692Tyr)
c.4961G>A (p.Cys1654Tyr)
c.2945G>A (p.Cys982Tyr)
c.635G>A (p.Cys212Tyr)
n.5334G>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
18g.23876361G>CCA402044990LAMA3c.239G>C (p.Cys80Ser)
c.5066G>C (p.Cys1689Ser)
c.1958G>C (p.Cys653Ser)
c.5093G>C (p.Cys1698Ser)
c.5084G>C (p.Cys1695Ser)
c.5075G>C (p.Cys1692Ser)
c.4961G>C (p.Cys1654Ser)
c.2945G>C (p.Cys982Ser)
c.635G>C (p.Cys212Ser)
n.5334G>C
 gnomAD v4
18g.23876361G=CA2290312349LAMA3c.239G= (p.Cys80=)
c.5066G= (p.Cys1689=)
c.1958G= (p.Cys653=)
c.5093G= (p.Cys1698=)
c.5084G= (p.Cys1695=)
c.5075G= (p.Cys1692=)
c.4961G= (p.Cys1654=)
c.2945G= (p.Cys982=)
c.635G= (p.Cys212=)
n.5334G=
18g.23876361G>TCA402044991LAMA3c.239G>T (p.Cys80Phe)
c.5066G>T (p.Cys1689Phe)
c.1958G>T (p.Cys653Phe)
c.5093G>T (p.Cys1698Phe)
c.5084G>T (p.Cys1695Phe)
c.5075G>T (p.Cys1692Phe)
c.4961G>T (p.Cys1654Phe)
c.2945G>T (p.Cys982Phe)
c.635G>T (p.Cys212Phe)
n.5334G>T
18g.23876362C>ACA402044992LAMA3c.240C>A (p.Cys80Ter)
c.5067C>A (p.Cys1689Ter)
c.1959C>A (p.Cys653Ter)
c.5094C>A (p.Cys1698Ter)
c.5085C>A (p.Cys1695Ter)
c.5076C>A (p.Cys1692Ter)
c.4962C>A (p.Cys1654Ter)
c.2946C>A (p.Cys982Ter)
c.636C>A (p.Cys212Ter)
n.5335C>A
18g.23876362C>GCA402044993LAMA3c.240C>G (p.Cys80Trp)
c.5067C>G (p.Cys1689Trp)
c.1959C>G (p.Cys653Trp)
c.5094C>G (p.Cys1698Trp)
c.5085C>G (p.Cys1695Trp)
c.5076C>G (p.Cys1692Trp)
c.4962C>G (p.Cys1654Trp)
c.2946C>G (p.Cys982Trp)
c.636C>G (p.Cys212Trp)
n.5335C>G
18g.23876362C>TCA503327902LAMA3c.240C>T (p.Cys80=)
c.5067C>T (p.Cys1689=)
c.1959C>T (p.Cys653=)
c.5094C>T (p.Cys1698=)
c.5085C>T (p.Cys1695=)
c.5076C>T (p.Cys1692=)
c.4962C>T (p.Cys1654=)
c.2946C>T (p.Cys982=)
c.636C>T (p.Cys212=)
n.5335C>T
18g.23876363A>CCA402044994LAMA3c.241A>C (p.Asn81His)
c.5068A>C (p.Asn1690His)
c.1960A>C (p.Asn654His)
c.5095A>C (p.Asn1699His)
c.5086A>C (p.Asn1696His)
c.5077A>C (p.Asn1693His)
c.4963A>C (p.Asn1655His)
c.2947A>C (p.Asn983His)
c.637A>C (p.Asn213His)
n.5336A>C
18g.23876363A>GCA402044995LAMA3c.241A>G (p.Asn81Asp)
c.5068A>G (p.Asn1690Asp)
c.1960A>G (p.Asn654Asp)
c.5095A>G (p.Asn1699Asp)
c.5086A>G (p.Asn1696Asp)
c.5077A>G (p.Asn1693Asp)
c.4963A>G (p.Asn1655Asp)
c.2947A>G (p.Asn983Asp)
c.637A>G (p.Asn213Asp)
n.5336A>G
18g.23876363A>TCA402044996LAMA3c.241A>T (p.Asn81Tyr)
c.5068A>T (p.Asn1690Tyr)
c.1960A>T (p.Asn654Tyr)
c.5095A>T (p.Asn1699Tyr)
c.5086A>T (p.Asn1696Tyr)
c.5077A>T (p.Asn1693Tyr)
c.4963A>T (p.Asn1655Tyr)
c.2947A>T (p.Asn983Tyr)
c.637A>T (p.Asn213Tyr)
n.5336A>T
18g.23876364A>CCA402044999LAMA3c.242A>C (p.Asn81Thr)
c.5069A>C (p.Asn1690Thr)
c.1961A>C (p.Asn654Thr)
c.5096A>C (p.Asn1699Thr)
c.5087A>C (p.Asn1696Thr)
c.5078A>C (p.Asn1693Thr)
c.4964A>C (p.Asn1655Thr)
c.2948A>C (p.Asn983Thr)
c.638A>C (p.Asn213Thr)
n.5337A>C
18g.23876364A>GCA402044997LAMA3c.242A>G (p.Asn81Ser)
c.5069A>G (p.Asn1690Ser)
c.1961A>G (p.Asn654Ser)
c.5096A>G (p.Asn1699Ser)
c.5087A>G (p.Asn1696Ser)
c.5078A>G (p.Asn1693Ser)
c.4964A>G (p.Asn1655Ser)
c.2948A>G (p.Asn983Ser)
c.638A>G (p.Asn213Ser)
n.5337A>G
18g.23876364A>TCA402044998LAMA3c.242A>T (p.Asn81Ile)
c.5069A>T (p.Asn1690Ile)
c.1961A>T (p.Asn654Ile)
c.5096A>T (p.Asn1699Ile)
c.5087A>T (p.Asn1696Ile)
c.5078A>T (p.Asn1693Ile)
c.4964A>T (p.Asn1655Ile)
c.2948A>T (p.Asn983Ile)
c.638A>T (p.Asn213Ile)
n.5337A>T
18g.23876365C>ACA402045000LAMA3c.243C>A (p.Asn81Lys)
c.5070C>A (p.Asn1690Lys)
c.1962C>A (p.Asn654Lys)
c.5097C>A (p.Asn1699Lys)
c.5088C>A (p.Asn1696Lys)
c.5079C>A (p.Asn1693Lys)
c.4965C>A (p.Asn1655Lys)
c.2949C>A (p.Asn983Lys)
c.639C>A (p.Asn213Lys)
n.5338C>A
18g.23876365C=CA2290312350LAMA3c.243C= (p.Asn81=)
c.5070C= (p.Asn1690=)
c.1962C= (p.Asn654=)
c.5097C= (p.Asn1699=)
c.5088C= (p.Asn1696=)
c.5079C= (p.Asn1693=)
c.4965C= (p.Asn1655=)
c.2949C= (p.Asn983=)
c.639C= (p.Asn213=)
n.5338C=
18g.23876365C>GCA402045001LAMA3c.243C>G (p.Asn81Lys)
c.5070C>G (p.Asn1690Lys)
c.1962C>G (p.Asn654Lys)
c.5097C>G (p.Asn1699Lys)
c.5088C>G (p.Asn1696Lys)
c.5079C>G (p.Asn1693Lys)
c.4965C>G (p.Asn1655Lys)
c.2949C>G (p.Asn983Lys)
c.639C>G (p.Asn213Lys)
n.5338C>G
18g.23876365C>TCA8915879LAMA3c.243C>T (p.Asn81=)
c.5070C>T (p.Asn1690=)
c.1962C>T (p.Asn654=)
c.5097C>T (p.Asn1699=)
c.5088C>T (p.Asn1696=)
c.5079C>T (p.Asn1693=)
c.4965C>T (p.Asn1655=)
c.2949C>T (p.Asn983=)
c.639C>T (p.Asn213=)
n.5338C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23876366G>ACA402045002LAMA3c.244G>A (p.Gly82Arg)
c.5071G>A (p.Gly1691Arg)
c.1963G>A (p.Gly655Arg)
c.5098G>A (p.Gly1700Arg)
c.5089G>A (p.Gly1697Arg)
c.5080G>A (p.Gly1694Arg)
c.4966G>A (p.Gly1656Arg)
c.2950G>A (p.Gly984Arg)
c.640G>A (p.Gly214Arg)
n.5339G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
18g.23876366G>CCA402045003LAMA3c.244G>C (p.Gly82Arg)
c.5071G>C (p.Gly1691Arg)
c.1963G>C (p.Gly655Arg)
c.5098G>C (p.Gly1700Arg)
c.5089G>C (p.Gly1697Arg)
c.5080G>C (p.Gly1694Arg)
c.4966G>C (p.Gly1656Arg)
c.2950G>C (p.Gly984Arg)
c.640G>C (p.Gly214Arg)
n.5339G>C
18g.23876366G=CA2290312351LAMA3c.244G= (p.Gly82=)
c.5071G= (p.Gly1691=)
c.1963G= (p.Gly655=)
c.5098G= (p.Gly1700=)
c.5089G= (p.Gly1697=)
c.5080G= (p.Gly1694=)
c.4966G= (p.Gly1656=)
c.2950G= (p.Gly984=)
c.640G= (p.Gly214=)
n.5339G=
18g.23876366G>TCA402045004LAMA3c.244G>T (p.Gly82Ter)
c.5071G>T (p.Gly1691Ter)
c.1963G>T (p.Gly655Ter)
c.5098G>T (p.Gly1700Ter)
c.5089G>T (p.Gly1697Ter)
c.5080G>T (p.Gly1694Ter)
c.4966G>T (p.Gly1656Ter)
c.2950G>T (p.Gly984Ter)
c.640G>T (p.Gly214Ter)
n.5339G>T
18g.23876367_23876368insGGGCA658824968LAMA3c.245_246insGGG (p.Gly82_His83insGly)
c.5072_5073insGGG (p.Gly1691_His1692insGly)
c.1964_1965insGGG (p.Gly655_His656insGly)
c.5099_5100insGGG (p.Gly1700_His1701insGly)
c.5090_5091insGGG (p.Gly1697_His1698insGly)
c.5081_5082insGGG (p.Gly1694_His1695insGly)
c.4967_4968insGGG (p.Gly1656_His1657insGly)
c.2951_2952insGGG (p.Gly984_His985insGly)
c.641_642insGGG (p.Gly214_His215insGly)
n.5340_5341insGGG
 ClinVar dbSNP
18g.23876367G>ACA402045005LAMA3c.245G>A (p.Gly82Glu)
c.5072G>A (p.Gly1691Glu)
c.1964G>A (p.Gly655Glu)
c.5099G>A (p.Gly1700Glu)
c.5090G>A (p.Gly1697Glu)
c.5081G>A (p.Gly1694Glu)
c.4967G>A (p.Gly1656Glu)
c.2951G>A (p.Gly984Glu)
c.641G>A (p.Gly214Glu)
n.5340G>A
18g.23876367G>CCA402045006LAMA3c.245G>C (p.Gly82Ala)
c.5072G>C (p.Gly1691Ala)
c.1964G>C (p.Gly655Ala)
c.5099G>C (p.Gly1700Ala)
c.5090G>C (p.Gly1697Ala)
c.5081G>C (p.Gly1694Ala)
c.4967G>C (p.Gly1656Ala)
c.2951G>C (p.Gly984Ala)
c.641G>C (p.Gly214Ala)
n.5340G>C
18g.23876367G>TCA402045007LAMA3c.245G>T (p.Gly82Val)
c.5072G>T (p.Gly1691Val)
c.1964G>T (p.Gly655Val)
c.5099G>T (p.Gly1700Val)
c.5090G>T (p.Gly1697Val)
c.5081G>T (p.Gly1694Val)
c.4967G>T (p.Gly1656Val)
c.2951G>T (p.Gly984Val)
c.641G>T (p.Gly214Val)
n.5340G>T
18g.23876368A>CCA503327909LAMA3c.246A>C (p.Gly82=)
c.5073A>C (p.Gly1691=)
c.1965A>C (p.Gly655=)
c.5100A>C (p.Gly1700=)
c.5091A>C (p.Gly1697=)
c.5082A>C (p.Gly1694=)
c.4968A>C (p.Gly1656=)
c.2952A>C (p.Gly984=)
c.642A>C (p.Gly214=)
n.5341A>C
 ClinVar
18g.23876368A>GCA503327910LAMA3c.246A>G (p.Gly82=)
c.5073A>G (p.Gly1691=)
c.1965A>G (p.Gly655=)
c.5100A>G (p.Gly1700=)
c.5091A>G (p.Gly1697=)
c.5082A>G (p.Gly1694=)
c.4968A>G (p.Gly1656=)
c.2952A>G (p.Gly984=)
c.642A>G (p.Gly214=)
n.5341A>G
 gnomAD v4
18g.23876368A>TCA503327911LAMA3c.246A>T (p.Gly82=)
c.5073A>T (p.Gly1691=)
c.1965A>T (p.Gly655=)
c.5100A>T (p.Gly1700=)
c.5091A>T (p.Gly1697=)
c.5082A>T (p.Gly1694=)
c.4968A>T (p.Gly1656=)
c.2952A>T (p.Gly984=)
c.642A>T (p.Gly214=)
n.5341A>T
18g.23876369C>ACA402045008LAMA3c.247C>A (p.His83Asn)
c.5074C>A (p.His1692Asn)
c.1966C>A (p.His656Asn)
c.5101C>A (p.His1701Asn)
c.5092C>A (p.His1698Asn)
c.5083C>A (p.His1695Asn)
c.4969C>A (p.His1657Asn)
c.2953C>A (p.His985Asn)
c.643C>A (p.His215Asn)
n.5342C>A
 gnomAD v4
18g.23876369C>GCA402045009LAMA3c.247C>G (p.His83Asp)
c.5074C>G (p.His1692Asp)
c.1966C>G (p.His656Asp)
c.5101C>G (p.His1701Asp)
c.5092C>G (p.His1698Asp)
c.5083C>G (p.His1695Asp)
c.4969C>G (p.His1657Asp)
c.2953C>G (p.His985Asp)
c.643C>G (p.His215Asp)
n.5342C>G
18g.23876369C>TCA402045010LAMA3c.247C>T (p.His83Tyr)
c.5074C>T (p.His1692Tyr)
c.1966C>T (p.His656Tyr)
c.5101C>T (p.His1701Tyr)
c.5092C>T (p.His1698Tyr)
c.5083C>T (p.His1695Tyr)
c.4969C>T (p.His1657Tyr)
c.2953C>T (p.His985Tyr)
c.643C>T (p.His215Tyr)
n.5342C>T
18g.23876370A=CA2290312352LAMA3c.248A= (p.His83=)
c.5075A= (p.His1692=)
c.1967A= (p.His656=)
c.5102A= (p.His1701=)
c.5093A= (p.His1698=)
c.5084A= (p.His1695=)
c.4970A= (p.His1657=)
c.2954A= (p.His985=)
c.644A= (p.His215=)
n.5343A=
18g.23876370A>CCA402045011LAMA3c.248A>C (p.His83Pro)
c.5075A>C (p.His1692Pro)
c.1967A>C (p.His656Pro)
c.5102A>C (p.His1701Pro)
c.5093A>C (p.His1698Pro)
c.5084A>C (p.His1695Pro)
c.4970A>C (p.His1657Pro)
c.2954A>C (p.His985Pro)
c.644A>C (p.His215Pro)
n.5343A>C
18g.23876370A>GCA8915880LAMA3c.248A>G (p.His83Arg)
c.5075A>G (p.His1692Arg)
c.1967A>G (p.His656Arg)
c.5102A>G (p.His1701Arg)
c.5093A>G (p.His1698Arg)
c.5084A>G (p.His1695Arg)
c.4970A>G (p.His1657Arg)
c.2954A>G (p.His985Arg)
c.644A>G (p.His215Arg)
n.5343A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23876370A>TCA402045012LAMA3c.248A>T (p.His83Leu)
c.5075A>T (p.His1692Leu)
c.1967A>T (p.His656Leu)
c.5102A>T (p.His1701Leu)
c.5093A>T (p.His1698Leu)
c.5084A>T (p.His1695Leu)
c.4970A>T (p.His1657Leu)
c.2954A>T (p.His985Leu)
c.644A>T (p.His215Leu)
n.5343A>T
18g.23876370_23876386delCA2739268583LAMA3c.248_264del (p.His83ArgfsTer8)
c.5075_5091del (p.His1692ArgfsTer8)
c.1967_1983del (p.His656ArgfsTer8)
c.5102_5118del (p.His1701ArgfsTer8)
c.5093_5109del (p.His1698ArgfsTer8)
c.5084_5100del (p.His1695ArgfsTer8)
c.4970_4986del (p.His1657ArgfsTer8)
c.2954_2970del (p.His985ArgfsTer8)
c.644_660del (p.His215ArgfsTer8)
n.5343_5359del
 ClinVar
18g.23876371T>ACA402045013LAMA3c.249T>A (p.His83Gln)
c.5076T>A (p.His1692Gln)
c.1968T>A (p.His656Gln)
c.5103T>A (p.His1701Gln)
c.5094T>A (p.His1698Gln)
c.5085T>A (p.His1695Gln)
c.4971T>A (p.His1657Gln)
c.2955T>A (p.His985Gln)
c.645T>A (p.His215Gln)
n.5344T>A
18g.23876371T>CCA503327915LAMA3c.249T>C (p.His83=)
c.5076T>C (p.His1692=)
c.1968T>C (p.His656=)
c.5103T>C (p.His1701=)
c.5094T>C (p.His1698=)
c.5085T>C (p.His1695=)
c.4971T>C (p.His1657=)
c.2955T>C (p.His985=)
c.645T>C (p.His215=)
n.5344T>C
18g.23876371T>GCA402045014LAMA3c.249T>G (p.His83Gln)
c.5076T>G (p.His1692Gln)
c.1968T>G (p.His656Gln)
c.5103T>G (p.His1701Gln)
c.5094T>G (p.His1698Gln)
c.5085T>G (p.His1695Gln)
c.4971T>G (p.His1657Gln)
c.2955T>G (p.His985Gln)
c.645T>G (p.His215Gln)
n.5344T>G
18g.23876372T>ACA402045015LAMA3c.250T>A (p.Ser84Thr)
c.5077T>A (p.Ser1693Thr)
c.1969T>A (p.Ser657Thr)
c.5104T>A (p.Ser1702Thr)
c.5095T>A (p.Ser1699Thr)
c.5086T>A (p.Ser1696Thr)
c.4972T>A (p.Ser1658Thr)
c.2956T>A (p.Ser986Thr)
c.646T>A (p.Ser216Thr)
n.5345T>A
18g.23876372T>CCA402045016LAMA3c.250T>C (p.Ser84Pro)
c.5077T>C (p.Ser1693Pro)
c.1969T>C (p.Ser657Pro)
c.5104T>C (p.Ser1702Pro)
c.5095T>C (p.Ser1699Pro)
c.5086T>C (p.Ser1696Pro)
c.4972T>C (p.Ser1658Pro)
c.2956T>C (p.Ser986Pro)
c.646T>C (p.Ser216Pro)
n.5345T>C
18g.23876372T>GCA402045017LAMA3c.250T>G (p.Ser84Ala)
c.5077T>G (p.Ser1693Ala)
c.1969T>G (p.Ser657Ala)
c.5104T>G (p.Ser1702Ala)
c.5095T>G (p.Ser1699Ala)
c.5086T>G (p.Ser1696Ala)
c.4972T>G (p.Ser1658Ala)
c.2956T>G (p.Ser986Ala)
c.646T>G (p.Ser216Ala)
n.5345T>G
18g.23876373C>ACA402045018LAMA3c.251C>A (p.Ser84Ter)
c.5078C>A (p.Ser1693Ter)
c.1970C>A (p.Ser657Ter)
c.5105C>A (p.Ser1702Ter)
c.5096C>A (p.Ser1699Ter)
c.5087C>A (p.Ser1696Ter)
c.4973C>A (p.Ser1658Ter)
c.2957C>A (p.Ser986Ter)
c.647C>A (p.Ser216Ter)
n.5346C>A
18g.23876373C=CA2290312353LAMA3c.251C= (p.Ser84=)
c.5078C= (p.Ser1693=)
c.1970C= (p.Ser657=)
c.5105C= (p.Ser1702=)
c.5096C= (p.Ser1699=)
c.5087C= (p.Ser1696=)
c.4973C= (p.Ser1658=)
c.2957C= (p.Ser986=)
c.647C= (p.Ser216=)
n.5346C=
18g.23876373C>GCA402045019LAMA3c.251C>G (p.Ser84Ter)
c.5078C>G (p.Ser1693Ter)
c.1970C>G (p.Ser657Ter)
c.5105C>G (p.Ser1702Ter)
c.5096C>G (p.Ser1699Ter)
c.5087C>G (p.Ser1696Ter)
c.4973C>G (p.Ser1658Ter)
c.2957C>G (p.Ser986Ter)
c.647C>G (p.Ser216Ter)
n.5346C>G
 dbSNP gnomAD v4
18g.23876373C>TCA402045020LAMA3c.251C>T (p.Ser84Leu)
c.5078C>T (p.Ser1693Leu)
c.1970C>T (p.Ser657Leu)
c.5105C>T (p.Ser1702Leu)
c.5096C>T (p.Ser1699Leu)
c.5087C>T (p.Ser1696Leu)
c.4973C>T (p.Ser1658Leu)
c.2957C>T (p.Ser986Leu)
c.647C>T (p.Ser216Leu)
n.5346C>T
18g.23876374A=CA2290312354LAMA3c.252A= (p.Ser84=)
c.5079A= (p.Ser1693=)
c.1971A= (p.Ser657=)
c.5106A= (p.Ser1702=)
c.5097A= (p.Ser1699=)
c.5088A= (p.Ser1696=)
c.4974A= (p.Ser1658=)
c.2958A= (p.Ser986=)
c.648A= (p.Ser216=)
n.5347A=
18g.23876374A>CCA503327917LAMA3c.252A>C (p.Ser84=)
c.5079A>C (p.Ser1693=)
c.1971A>C (p.Ser657=)
c.5106A>C (p.Ser1702=)
c.5097A>C (p.Ser1699=)
c.5088A>C (p.Ser1696=)
c.4974A>C (p.Ser1658=)
c.2958A>C (p.Ser986=)
c.648A>C (p.Ser216=)
n.5347A>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.23876374A>GCA503327918LAMA3c.252A>G (p.Ser84=)
c.5079A>G (p.Ser1693=)
c.1971A>G (p.Ser657=)
c.5106A>G (p.Ser1702=)
c.5097A>G (p.Ser1699=)
c.5088A>G (p.Ser1696=)
c.4974A>G (p.Ser1658=)
c.2958A>G (p.Ser986=)
c.648A>G (p.Ser216=)
n.5347A>G
18g.23876374A>TCA503327919LAMA3c.252A>T (p.Ser84=)
c.5079A>T (p.Ser1693=)
c.1971A>T (p.Ser657=)
c.5106A>T (p.Ser1702=)
c.5097A>T (p.Ser1699=)
c.5088A>T (p.Ser1696=)
c.4974A>T (p.Ser1658=)
c.2958A>T (p.Ser986=)
c.648A>T (p.Ser216=)
n.5347A>T
 ClinVar dbSNP gnomAD v4
18g.23876375A=CA2290312355LAMA3c.253A= (p.Asn85=)
c.5080A= (p.Asn1694=)
c.1972A= (p.Asn658=)
c.5107A= (p.Asn1703=)
c.5098A= (p.Asn1700=)
c.5089A= (p.Asn1697=)
c.4975A= (p.Asn1659=)
c.2959A= (p.Asn987=)
c.649A= (p.Asn217=)
n.5348A=
18g.23876375A>CCA402045021LAMA3c.253A>C (p.Asn85His)
c.5080A>C (p.Asn1694His)
c.1972A>C (p.Asn658His)
c.5107A>C (p.Asn1703His)
c.5098A>C (p.Asn1700His)
c.5089A>C (p.Asn1697His)
c.4975A>C (p.Asn1659His)
c.2959A>C (p.Asn987His)
c.649A>C (p.Asn217His)
n.5348A>C
 dbSNP
18g.23876375A>GCA8915881LAMA3c.253A>G (p.Asn85Asp)
c.5080A>G (p.Asn1694Asp)
c.1972A>G (p.Asn658Asp)
c.5107A>G (p.Asn1703Asp)
c.5098A>G (p.Asn1700Asp)
c.5089A>G (p.Asn1697Asp)
c.4975A>G (p.Asn1659Asp)
c.2959A>G (p.Asn987Asp)
c.649A>G (p.Asn217Asp)
n.5348A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23876375A>TCA402045022LAMA3c.253A>T (p.Asn85Tyr)
c.5080A>T (p.Asn1694Tyr)
c.1972A>T (p.Asn658Tyr)
c.5107A>T (p.Asn1703Tyr)
c.5098A>T (p.Asn1700Tyr)
c.5089A>T (p.Asn1697Tyr)
c.4975A>T (p.Asn1659Tyr)
c.2959A>T (p.Asn987Tyr)
c.649A>T (p.Asn217Tyr)
n.5348A>T
18g.23876376A=CA2290312356LAMA3c.254A= (p.Asn85=)
c.5081A= (p.Asn1694=)
c.1973A= (p.Asn658=)
c.5108A= (p.Asn1703=)
c.5099A= (p.Asn1700=)
c.5090A= (p.Asn1697=)
c.4976A= (p.Asn1659=)
c.2960A= (p.Asn987=)
c.650A= (p.Asn217=)
n.5349A=
18g.23876376A>CCA402045023LAMA3c.254A>C (p.Asn85Thr)
c.5081A>C (p.Asn1694Thr)
c.1973A>C (p.Asn658Thr)
c.5108A>C (p.Asn1703Thr)
c.5099A>C (p.Asn1700Thr)
c.5090A>C (p.Asn1697Thr)
c.4976A>C (p.Asn1659Thr)
c.2960A>C (p.Asn987Thr)
c.650A>C (p.Asn217Thr)
n.5349A>C
18g.23876376A>GCA8915882LAMA3c.254A>G (p.Asn85Ser)
c.5081A>G (p.Asn1694Ser)
c.1973A>G (p.Asn658Ser)
c.5108A>G (p.Asn1703Ser)
c.5099A>G (p.Asn1700Ser)
c.5090A>G (p.Asn1697Ser)
c.4976A>G (p.Asn1659Ser)
c.2960A>G (p.Asn987Ser)
c.650A>G (p.Asn217Ser)
n.5349A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23876376A>TCA402045024LAMA3c.254A>T (p.Asn85Ile)
c.5081A>T (p.Asn1694Ile)
c.1973A>T (p.Asn658Ile)
c.5108A>T (p.Asn1703Ile)
c.5099A>T (p.Asn1700Ile)
c.5090A>T (p.Asn1697Ile)
c.4976A>T (p.Asn1659Ile)
c.2960A>T (p.Asn987Ile)
c.650A>T (p.Asn217Ile)
n.5349A>T
18g.23876377T>ACA402045026LAMA3c.255T>A (p.Asn85Lys)
c.5082T>A (p.Asn1694Lys)
c.1974T>A (p.Asn658Lys)
c.5109T>A (p.Asn1703Lys)
c.5100T>A (p.Asn1700Lys)
c.5091T>A (p.Asn1697Lys)
c.4977T>A (p.Asn1659Lys)
c.2961T>A (p.Asn987Lys)
c.651T>A (p.Asn217Lys)
n.5350T>A
 gnomAD v4
18g.23876377T>CCA503327924LAMA3c.255T>C (p.Asn85=)
c.5082T>C (p.Asn1694=)
c.1974T>C (p.Asn658=)
c.5109T>C (p.Asn1703=)
c.5100T>C (p.Asn1700=)
c.5091T>C (p.Asn1697=)
c.4977T>C (p.Asn1659=)
c.2961T>C (p.Asn987=)
c.651T>C (p.Asn217=)
n.5350T>C
 ClinVar
18g.23876377T>GCA402045025LAMA3c.255T>G (p.Asn85Lys)
c.5082T>G (p.Asn1694Lys)
c.1974T>G (p.Asn658Lys)
c.5109T>G (p.Asn1703Lys)
c.5100T>G (p.Asn1700Lys)
c.5091T>G (p.Asn1697Lys)
c.4977T>G (p.Asn1659Lys)
c.2961T>G (p.Asn987Lys)
c.651T>G (p.Asn217Lys)
n.5350T>G
18g.23876378C>ACA402045027LAMA3c.256C>A (p.Gln86Lys)
c.5083C>A (p.Gln1695Lys)
c.1975C>A (p.Gln659Lys)
c.5110C>A (p.Gln1704Lys)
c.5101C>A (p.Gln1701Lys)
c.5092C>A (p.Gln1698Lys)
c.4978C>A (p.Gln1660Lys)
c.2962C>A (p.Gln988Lys)
c.652C>A (p.Gln218Lys)
n.5351C>A
 gnomAD v4
18g.23876378C>GCA402045028LAMA3c.256C>G (p.Gln86Glu)
c.5083C>G (p.Gln1695Glu)
c.1975C>G (p.Gln659Glu)
c.5110C>G (p.Gln1704Glu)
c.5101C>G (p.Gln1701Glu)
c.5092C>G (p.Gln1698Glu)
c.4978C>G (p.Gln1660Glu)
c.2962C>G (p.Gln988Glu)
c.652C>G (p.Gln218Glu)
n.5351C>G
18g.23876378C>TCA402045029LAMA3c.256C>T (p.Gln86Ter)
c.5083C>T (p.Gln1695Ter)
c.1975C>T (p.Gln659Ter)
c.5110C>T (p.Gln1704Ter)
c.5101C>T (p.Gln1701Ter)
c.5092C>T (p.Gln1698Ter)
c.4978C>T (p.Gln1660Ter)
c.2962C>T (p.Gln988Ter)
c.652C>T (p.Gln218Ter)
n.5351C>T
18g.23876379A=CA2290312357LAMA3c.257A= (p.Gln86=)
c.5084A= (p.Gln1695=)
c.1976A= (p.Gln659=)
c.5111A= (p.Gln1704=)
c.5102A= (p.Gln1701=)
c.5093A= (p.Gln1698=)
c.4979A= (p.Gln1660=)
c.2963A= (p.Gln988=)
c.653A= (p.Gln218=)
n.5352A=
18g.23876379A>CCA402045030LAMA3c.257A>C (p.Gln86Pro)
c.5084A>C (p.Gln1695Pro)
c.1976A>C (p.Gln659Pro)
c.5111A>C (p.Gln1704Pro)
c.5102A>C (p.Gln1701Pro)
c.5093A>C (p.Gln1698Pro)
c.4979A>C (p.Gln1660Pro)
c.2963A>C (p.Gln988Pro)
c.653A>C (p.Gln218Pro)
n.5352A>C
18g.23876379A>GCA402045031LAMA3c.257A>G (p.Gln86Arg)
c.5084A>G (p.Gln1695Arg)
c.1976A>G (p.Gln659Arg)
c.5111A>G (p.Gln1704Arg)
c.5102A>G (p.Gln1701Arg)
c.5093A>G (p.Gln1698Arg)
c.4979A>G (p.Gln1660Arg)
c.2963A>G (p.Gln988Arg)
c.653A>G (p.Gln218Arg)
n.5352A>G
 dbSNP gnomAD v4
18g.23876379A>TCA402045032LAMA3c.257A>T (p.Gln86Leu)
c.5084A>T (p.Gln1695Leu)
c.1976A>T (p.Gln659Leu)
c.5111A>T (p.Gln1704Leu)
c.5102A>T (p.Gln1701Leu)
c.5093A>T (p.Gln1698Leu)
c.4979A>T (p.Gln1660Leu)
c.2963A>T (p.Gln988Leu)
c.653A>T (p.Gln218Leu)
n.5352A>T
 dbSNP gnomAD v3 gnomAD v4
18g.23876380A=CA2290312358LAMA3c.258A= (p.Gln86=)
c.5085A= (p.Gln1695=)
c.1977A= (p.Gln659=)
c.5112A= (p.Gln1704=)
c.5103A= (p.Gln1701=)
c.5094A= (p.Gln1698=)
c.4980A= (p.Gln1660=)
c.2964A= (p.Gln988=)
c.654A= (p.Gln218=)
n.5353A=
18g.23876380A>CCA402045033LAMA3c.258A>C (p.Gln86His)
c.5085A>C (p.Gln1695His)
c.1977A>C (p.Gln659His)
c.5112A>C (p.Gln1704His)
c.5103A>C (p.Gln1701His)
c.5094A>C (p.Gln1698His)
c.4980A>C (p.Gln1660His)
c.2964A>C (p.Gln988His)
c.654A>C (p.Gln218His)
n.5353A>C
18g.23876380A>GCA8915883LAMA3c.258A>G (p.Gln86=)
c.5085A>G (p.Gln1695=)
c.1977A>G (p.Gln659=)
c.5112A>G (p.Gln1704=)
c.5103A>G (p.Gln1701=)
c.5094A>G (p.Gln1698=)
c.4980A>G (p.Gln1660=)
c.2964A>G (p.Gln988=)
c.654A>G (p.Gln218=)
n.5353A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23876380A>TCA402045034LAMA3c.258A>T (p.Gln86His)
c.5085A>T (p.Gln1695His)
c.1977A>T (p.Gln659His)
c.5112A>T (p.Gln1704His)
c.5103A>T (p.Gln1701His)
c.5094A>T (p.Gln1698His)
c.4980A>T (p.Gln1660His)
c.2964A>T (p.Gln988His)
c.654A>T (p.Gln218His)
n.5353A>T
 dbSNP
18g.23876381T>ACA402045035LAMA3c.259T>A (p.Cys87Ser)
c.5086T>A (p.Cys1696Ser)
c.1978T>A (p.Cys660Ser)
c.5113T>A (p.Cys1705Ser)
c.5104T>A (p.Cys1702Ser)
c.5095T>A (p.Cys1699Ser)
c.4981T>A (p.Cys1661Ser)
c.2965T>A (p.Cys989Ser)
c.655T>A (p.Cys219Ser)
n.5354T>A
18g.23876381T>CCA402045036LAMA3c.259T>C (p.Cys87Arg)
c.5086T>C (p.Cys1696Arg)
c.1978T>C (p.Cys660Arg)
c.5113T>C (p.Cys1705Arg)
c.5104T>C (p.Cys1702Arg)
c.5095T>C (p.Cys1699Arg)
c.4981T>C (p.Cys1661Arg)
c.2965T>C (p.Cys989Arg)
c.655T>C (p.Cys219Arg)
n.5354T>C
 gnomAD v4
18g.23876381T>GCA402045037LAMA3c.259T>G (p.Cys87Gly)
c.5086T>G (p.Cys1696Gly)
c.1978T>G (p.Cys660Gly)
c.5113T>G (p.Cys1705Gly)
c.5104T>G (p.Cys1702Gly)
c.5095T>G (p.Cys1699Gly)
c.4981T>G (p.Cys1661Gly)
c.2965T>G (p.Cys989Gly)
c.655T>G (p.Cys219Gly)
n.5354T>G
18g.23876382G>ACA402045040LAMA3c.260G>A (p.Cys87Tyr)
c.5087G>A (p.Cys1696Tyr)
c.1979G>A (p.Cys660Tyr)
c.5114G>A (p.Cys1705Tyr)
c.5105G>A (p.Cys1702Tyr)
c.5096G>A (p.Cys1699Tyr)
c.4982G>A (p.Cys1661Tyr)
c.2966G>A (p.Cys989Tyr)
c.656G>A (p.Cys219Tyr)
n.5355G>A
18g.23876382G>CCA402045039LAMA3c.260G>C (p.Cys87Ser)
c.5087G>C (p.Cys1696Ser)
c.1979G>C (p.Cys660Ser)
c.5114G>C (p.Cys1705Ser)
c.5105G>C (p.Cys1702Ser)
c.5096G>C (p.Cys1699Ser)
c.4982G>C (p.Cys1661Ser)
c.2966G>C (p.Cys989Ser)
c.656G>C (p.Cys219Ser)
n.5355G>C
18g.23876382G>TCA402045038LAMA3c.260G>T (p.Cys87Phe)
c.5087G>T (p.Cys1696Phe)
c.1979G>T (p.Cys660Phe)
c.5114G>T (p.Cys1705Phe)
c.5105G>T (p.Cys1702Phe)
c.5096G>T (p.Cys1699Phe)
c.4982G>T (p.Cys1661Phe)
c.2966G>T (p.Cys989Phe)
c.656G>T (p.Cys219Phe)
n.5355G>T
18g.23876383C>ACA402045041LAMA3c.261C>A (p.Cys87Ter)
c.5088C>A (p.Cys1696Ter)
c.1980C>A (p.Cys660Ter)
c.5115C>A (p.Cys1705Ter)
c.5106C>A (p.Cys1702Ter)
c.5097C>A (p.Cys1699Ter)
c.4983C>A (p.Cys1661Ter)
c.2967C>A (p.Cys989Ter)
c.657C>A (p.Cys219Ter)
n.5356C>A
 gnomAD v4
18g.23876383C>GCA402045042LAMA3c.261C>G (p.Cys87Trp)
c.5088C>G (p.Cys1696Trp)
c.1980C>G (p.Cys660Trp)
c.5115C>G (p.Cys1705Trp)
c.5106C>G (p.Cys1702Trp)
c.5097C>G (p.Cys1699Trp)
c.4983C>G (p.Cys1661Trp)
c.2967C>G (p.Cys989Trp)
c.657C>G (p.Cys219Trp)
n.5356C>G
18g.23876383C>TCA503327927LAMA3c.261C>T (p.Cys87=)
c.5088C>T (p.Cys1696=)
c.1980C>T (p.Cys660=)
c.5115C>T (p.Cys1705=)
c.5106C>T (p.Cys1702=)
c.5097C>T (p.Cys1699=)
c.4983C>T (p.Cys1661=)
c.2967C>T (p.Cys989=)
c.657C>T (p.Cys219=)
n.5356C>T
 gnomAD v4
18g.23876384C>ACA402045043LAMA3c.262C>A (p.Gln88Lys)
c.5089C>A (p.Gln1697Lys)
c.1981C>A (p.Gln661Lys)
c.5116C>A (p.Gln1706Lys)
c.5107C>A (p.Gln1703Lys)
c.5098C>A (p.Gln1700Lys)
c.4984C>A (p.Gln1662Lys)
c.2968C>A (p.Gln990Lys)
c.658C>A (p.Gln220Lys)
n.5357C>A
18g.23876384C>GCA402045044LAMA3c.262C>G (p.Gln88Glu)
c.5089C>G (p.Gln1697Glu)
c.1981C>G (p.Gln661Glu)
c.5116C>G (p.Gln1706Glu)
c.5107C>G (p.Gln1703Glu)
c.5098C>G (p.Gln1700Glu)
c.4984C>G (p.Gln1662Glu)
c.2968C>G (p.Gln990Glu)
c.658C>G (p.Gln220Glu)
n.5357C>G
18g.23876384C>TCA402045045LAMA3c.262C>T (p.Gln88Ter)
c.5089C>T (p.Gln1697Ter)
c.1981C>T (p.Gln661Ter)
c.5116C>T (p.Gln1706Ter)
c.5107C>T (p.Gln1703Ter)
c.5098C>T (p.Gln1700Ter)
c.4984C>T (p.Gln1662Ter)
c.2968C>T (p.Gln990Ter)
c.658C>T (p.Gln220Ter)
n.5357C>T
18g.23876385A>CCA402045046LAMA3c.263A>C (p.Gln88Pro)
c.5090A>C (p.Gln1697Pro)
c.1982A>C (p.Gln661Pro)
c.5117A>C (p.Gln1706Pro)
c.5108A>C (p.Gln1703Pro)
c.5099A>C (p.Gln1700Pro)
c.4985A>C (p.Gln1662Pro)
c.2969A>C (p.Gln990Pro)
c.659A>C (p.Gln220Pro)
n.5358A>C
18g.23876385A>GCA402045047LAMA3c.263A>G (p.Gln88Arg)
c.5090A>G (p.Gln1697Arg)
c.1982A>G (p.Gln661Arg)
c.5117A>G (p.Gln1706Arg)
c.5108A>G (p.Gln1703Arg)
c.5099A>G (p.Gln1700Arg)
c.4985A>G (p.Gln1662Arg)
c.2969A>G (p.Gln990Arg)
c.659A>G (p.Gln220Arg)
n.5358A>G
18g.23876385A>TCA402045048LAMA3c.263A>T (p.Gln88Leu)
c.5090A>T (p.Gln1697Leu)
c.1982A>T (p.Gln661Leu)
c.5117A>T (p.Gln1706Leu)
c.5108A>T (p.Gln1703Leu)
c.5099A>T (p.Gln1700Leu)
c.4985A>T (p.Gln1662Leu)
c.2969A>T (p.Gln990Leu)
c.659A>T (p.Gln220Leu)
n.5358A>T
18g.23876386G>ACA503327931LAMA3c.264G>A (p.Gln88=)
c.5091G>A (p.Gln1697=)
c.1983G>A (p.Gln661=)
c.5118G>A (p.Gln1706=)
c.5109G>A (p.Gln1703=)
c.5100G>A (p.Gln1700=)
c.4986G>A (p.Gln1662=)
c.2970G>A (p.Gln990=)
c.660G>A (p.Gln220=)
n.5359G>A
18g.23876386G>CCA402045049LAMA3c.264G>C (p.Gln88His)
c.5091G>C (p.Gln1697His)
c.1983G>C (p.Gln661His)
c.5118G>C (p.Gln1706His)
c.5109G>C (p.Gln1703His)
c.5100G>C (p.Gln1700His)
c.4986G>C (p.Gln1662His)
c.2970G>C (p.Gln990His)
c.660G>C (p.Gln220His)
n.5359G>C
18g.23876386G>TCA402045050LAMA3c.264G>T (p.Gln88His)
c.5091G>T (p.Gln1697His)
c.1983G>T (p.Gln661His)
c.5118G>T (p.Gln1706His)
c.5109G>T (p.Gln1703His)
c.5100G>T (p.Gln1700His)
c.4986G>T (p.Gln1662His)
c.2970G>T (p.Gln990His)
c.660G>T (p.Gln220His)
n.5359G>T
18g.23876387G>ACA402045051LAMA3c.265G>A (p.Asp89Asn)
c.5092G>A (p.Asp1698Asn)
c.1984G>A (p.Asp662Asn)
c.5119G>A (p.Asp1707Asn)
c.5110G>A (p.Asp1704Asn)
c.5101G>A (p.Asp1701Asn)
c.4987G>A (p.Asp1663Asn)
c.2971G>A (p.Asp991Asn)
c.661G>A (p.Asp221Asn)
n.5360G>A
18g.23876387G>CCA402045052LAMA3c.265G>C (p.Asp89His)
c.5092G>C (p.Asp1698His)
c.1984G>C (p.Asp662His)
c.5119G>C (p.Asp1707His)
c.5110G>C (p.Asp1704His)
c.5101G>C (p.Asp1701His)
c.4987G>C (p.Asp1663His)
c.2971G>C (p.Asp991His)
c.661G>C (p.Asp221His)
n.5360G>C
 gnomAD v4
18g.23876387G>TCA402045053LAMA3c.265G>T (p.Asp89Tyr)
c.5092G>T (p.Asp1698Tyr)
c.1984G>T (p.Asp662Tyr)
c.5119G>T (p.Asp1707Tyr)
c.5110G>T (p.Asp1704Tyr)
c.5101G>T (p.Asp1701Tyr)
c.4987G>T (p.Asp1663Tyr)
c.2971G>T (p.Asp991Tyr)
c.661G>T (p.Asp221Tyr)
n.5360G>T
18g.23876388A=CA2290312359LAMA3c.266A= (p.Asp89=)
c.5093A= (p.Asp1698=)
c.1985A= (p.Asp662=)
c.5120A= (p.Asp1707=)
c.5111A= (p.Asp1704=)
c.5102A= (p.Asp1701=)
c.4988A= (p.Asp1663=)
c.2972A= (p.Asp991=)
c.662A= (p.Asp221=)
n.5361A=
18g.23876388A>CCA402045054LAMA3c.266A>C (p.Asp89Ala)
c.5093A>C (p.Asp1698Ala)
c.1985A>C (p.Asp662Ala)
c.5120A>C (p.Asp1707Ala)
c.5111A>C (p.Asp1704Ala)
c.5102A>C (p.Asp1701Ala)
c.4988A>C (p.Asp1663Ala)
c.2972A>C (p.Asp991Ala)
c.662A>C (p.Asp221Ala)
n.5361A>C
18g.23876388A>GCA402045056LAMA3c.266A>G (p.Asp89Gly)
c.5093A>G (p.Asp1698Gly)
c.1985A>G (p.Asp662Gly)
c.5120A>G (p.Asp1707Gly)
c.5111A>G (p.Asp1704Gly)
c.5102A>G (p.Asp1701Gly)
c.4988A>G (p.Asp1663Gly)
c.2972A>G (p.Asp991Gly)
c.662A>G (p.Asp221Gly)
n.5361A>G
 dbSNP
18g.23876388A>TCA402045055LAMA3c.266A>T (p.Asp89Val)
c.5093A>T (p.Asp1698Val)
c.1985A>T (p.Asp662Val)
c.5120A>T (p.Asp1707Val)
c.5111A>T (p.Asp1704Val)
c.5102A>T (p.Asp1701Val)
c.4988A>T (p.Asp1663Val)
c.2972A>T (p.Asp991Val)
c.662A>T (p.Asp221Val)
n.5361A>T
 dbSNP
18g.23876389T>ACA402045057LAMA3c.267T>A (p.Asp89Glu)
c.5094T>A (p.Asp1698Glu)
c.1986T>A (p.Asp662Glu)
c.5121T>A (p.Asp1707Glu)
c.5112T>A (p.Asp1704Glu)
c.5103T>A (p.Asp1701Glu)
c.4989T>A (p.Asp1663Glu)
c.2973T>A (p.Asp991Glu)
c.663T>A (p.Asp221Glu)
n.5362T>A
18g.23876389T>CCA503327933LAMA3c.267T>C (p.Asp89=)
c.5094T>C (p.Asp1698=)
c.1986T>C (p.Asp662=)
c.5121T>C (p.Asp1707=)
c.5112T>C (p.Asp1704=)
c.5103T>C (p.Asp1701=)
c.4989T>C (p.Asp1663=)
c.2973T>C (p.Asp991=)
c.663T>C (p.Asp221=)
n.5362T>C
18g.23876389T>GCA402045058LAMA3c.267T>G (p.Asp89Glu)
c.5094T>G (p.Asp1698Glu)
c.1986T>G (p.Asp662Glu)
c.5121T>G (p.Asp1707Glu)
c.5112T>G (p.Asp1704Glu)
c.5103T>G (p.Asp1701Glu)
c.4989T>G (p.Asp1663Glu)
c.2973T>G (p.Asp991Glu)
c.663T>G (p.Asp221Glu)
n.5362T>G
18g.23876390G>ACA402045059LAMA3c.268G>A (p.Gly90Ser)
c.5095G>A (p.Gly1699Ser)
c.1987G>A (p.Gly663Ser)
c.5122G>A (p.Gly1708Ser)
c.5113G>A (p.Gly1705Ser)
c.5104G>A (p.Gly1702Ser)
c.4990G>A (p.Gly1664Ser)
c.2974G>A (p.Gly992Ser)
c.664G>A (p.Gly222Ser)
n.5363G>A
18g.23876390G>CCA402045060LAMA3c.268G>C (p.Gly90Arg)
c.5095G>C (p.Gly1699Arg)
c.1987G>C (p.Gly663Arg)
c.5122G>C (p.Gly1708Arg)
c.5113G>C (p.Gly1705Arg)
c.5104G>C (p.Gly1702Arg)
c.4990G>C (p.Gly1664Arg)
c.2974G>C (p.Gly992Arg)
c.664G>C (p.Gly222Arg)
n.5363G>C
18g.23876390G>TCA402045061LAMA3c.268G>T (p.Gly90Cys)
c.5095G>T (p.Gly1699Cys)
c.1987G>T (p.Gly663Cys)
c.5122G>T (p.Gly1708Cys)
c.5113G>T (p.Gly1705Cys)
c.5104G>T (p.Gly1702Cys)
c.4990G>T (p.Gly1664Cys)
c.2974G>T (p.Gly992Cys)
c.664G>T (p.Gly222Cys)
n.5363G>T
18g.23876391G>ACA402045062LAMA3c.269G>A (p.Gly90Asp)
c.5096G>A (p.Gly1699Asp)
c.1988G>A (p.Gly663Asp)
c.5123G>A (p.Gly1708Asp)
c.5114G>A (p.Gly1705Asp)
c.5105G>A (p.Gly1702Asp)
c.4991G>A (p.Gly1664Asp)
c.2975G>A (p.Gly992Asp)
c.665G>A (p.Gly222Asp)
n.5364G>A
18g.23876391G>CCA402045063LAMA3c.269G>C (p.Gly90Ala)
c.5096G>C (p.Gly1699Ala)
c.1988G>C (p.Gly663Ala)
c.5123G>C (p.Gly1708Ala)
c.5114G>C (p.Gly1705Ala)
c.5105G>C (p.Gly1702Ala)
c.4991G>C (p.Gly1664Ala)
c.2975G>C (p.Gly992Ala)
c.665G>C (p.Gly222Ala)
n.5364G>C
18g.23876391G=CA2290312360LAMA3c.269G= (p.Gly90=)
c.5096G= (p.Gly1699=)
c.1988G= (p.Gly663=)
c.5123G= (p.Gly1708=)
c.5114G= (p.Gly1705=)
c.5105G= (p.Gly1702=)
c.4991G= (p.Gly1664=)
c.2975G= (p.Gly992=)
c.665G= (p.Gly222=)
n.5364G=
18g.23876391G>TCA402045064LAMA3c.269G>T (p.Gly90Val)
c.5096G>T (p.Gly1699Val)
c.1988G>T (p.Gly663Val)
c.5123G>T (p.Gly1708Val)
c.5114G>T (p.Gly1705Val)
c.5105G>T (p.Gly1702Val)
c.4991G>T (p.Gly1664Val)
c.2975G>T (p.Gly992Val)
c.665G>T (p.Gly222Val)
n.5364G>T
 dbSNP gnomAD v2 gnomAD v4
18g.23876392C>ACA503327937LAMA3c.270C>A (p.Gly90=)
c.5097C>A (p.Gly1699=)
c.1989C>A (p.Gly663=)
c.5124C>A (p.Gly1708=)
c.5115C>A (p.Gly1705=)
c.5106C>A (p.Gly1702=)
c.4992C>A (p.Gly1664=)
c.2976C>A (p.Gly992=)
c.666C>A (p.Gly222=)
n.5365C>A
 gnomAD v4
18g.23876392C>GCA503327938LAMA3c.270C>G (p.Gly90=)
c.5097C>G (p.Gly1699=)
c.1989C>G (p.Gly663=)
c.5124C>G (p.Gly1708=)
c.5115C>G (p.Gly1705=)
c.5106C>G (p.Gly1702=)
c.4992C>G (p.Gly1664=)
c.2976C>G (p.Gly992=)
c.666C>G (p.Gly222=)
n.5365C>G
18g.23876392C>TCA503327939LAMA3c.270C>T (p.Gly90=)
c.5097C>T (p.Gly1699=)
c.1989C>T (p.Gly663=)
c.5124C>T (p.Gly1708=)
c.5115C>T (p.Gly1705=)
c.5106C>T (p.Gly1702=)
c.4992C>T (p.Gly1664=)
c.2976C>T (p.Gly992=)
c.666C>T (p.Gly222=)
n.5365C>T
18g.23876393T>ACA402045065LAMA3c.271T>A (p.Ser91Thr)
c.5098T>A (p.Ser1700Thr)
c.1990T>A (p.Ser664Thr)
c.5125T>A (p.Ser1709Thr)
c.5116T>A (p.Ser1706Thr)
c.5107T>A (p.Ser1703Thr)
c.4993T>A (p.Ser1665Thr)
c.2977T>A (p.Ser993Thr)
c.667T>A (p.Ser223Thr)
n.5366T>A
18g.23876393T>CCA402045066LAMA3c.271T>C (p.Ser91Pro)
c.5098T>C (p.Ser1700Pro)
c.1990T>C (p.Ser664Pro)
c.5125T>C (p.Ser1709Pro)
c.5116T>C (p.Ser1706Pro)
c.5107T>C (p.Ser1703Pro)
c.4993T>C (p.Ser1665Pro)
c.2977T>C (p.Ser993Pro)
c.667T>C (p.Ser223Pro)
n.5366T>C
18g.23876393T>GCA402045067LAMA3c.271T>G (p.Ser91Ala)
c.5098T>G (p.Ser1700Ala)
c.1990T>G (p.Ser664Ala)
c.5125T>G (p.Ser1709Ala)
c.5116T>G (p.Ser1706Ala)
c.5107T>G (p.Ser1703Ala)
c.4993T>G (p.Ser1665Ala)
c.2977T>G (p.Ser993Ala)
c.667T>G (p.Ser223Ala)
n.5366T>G
18g.23876394C>ACA402045069LAMA3c.272C>A (p.Ser91Ter)
c.5099C>A (p.Ser1700Ter)
c.1991C>A (p.Ser664Ter)
c.5126C>A (p.Ser1709Ter)
c.5117C>A (p.Ser1706Ter)
c.5108C>A (p.Ser1703Ter)
c.4994C>A (p.Ser1665Ter)
c.2978C>A (p.Ser993Ter)
c.668C>A (p.Ser223Ter)
n.5367C>A
 gnomAD v4
18g.23876394C=CA2290312361LAMA3c.272C= (p.Ser91=)
c.5099C= (p.Ser1700=)
c.1991C= (p.Ser664=)
c.5126C= (p.Ser1709=)
c.5117C= (p.Ser1706=)
c.5108C= (p.Ser1703=)
c.4994C= (p.Ser1665=)
c.2978C= (p.Ser993=)
c.668C= (p.Ser223=)
n.5367C=
18g.23876394C>GCA8915884LAMA3c.272C>G (p.Ser91Ter)
c.5099C>G (p.Ser1700Ter)
c.1991C>G (p.Ser664Ter)
c.5126C>G (p.Ser1709Ter)
c.5117C>G (p.Ser1706Ter)
c.5108C>G (p.Ser1703Ter)
c.4994C>G (p.Ser1665Ter)
c.2978C>G (p.Ser993Ter)
c.668C>G (p.Ser223Ter)
n.5367C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23876394C>TCA402045068LAMA3c.272C>T (p.Ser91Leu)
c.5099C>T (p.Ser1700Leu)
c.1991C>T (p.Ser664Leu)
c.5126C>T (p.Ser1709Leu)
c.5117C>T (p.Ser1706Leu)
c.5108C>T (p.Ser1703Leu)
c.4994C>T (p.Ser1665Leu)
c.2978C>T (p.Ser993Leu)
c.668C>T (p.Ser223Leu)
n.5367C>T
 gnomAD v4
18g.23876395A>CCA503327943LAMA3c.273A>C (p.Ser91=)
c.5100A>C (p.Ser1700=)
c.1992A>C (p.Ser664=)
c.5127A>C (p.Ser1709=)
c.5118A>C (p.Ser1706=)
c.5109A>C (p.Ser1703=)
c.4995A>C (p.Ser1665=)
c.2979A>C (p.Ser993=)
c.669A>C (p.Ser223=)
n.5368A>C
18g.23876395A>GCA503327944LAMA3c.273A>G (p.Ser91=)
c.5100A>G (p.Ser1700=)
c.1992A>G (p.Ser664=)
c.5127A>G (p.Ser1709=)
c.5118A>G (p.Ser1706=)
c.5109A>G (p.Ser1703=)
c.4995A>G (p.Ser1665=)
c.2979A>G (p.Ser993=)
c.669A>G (p.Ser223=)
n.5368A>G
18g.23876395A>TCA503327945LAMA3c.273A>T (p.Ser91=)
c.5100A>T (p.Ser1700=)
c.1992A>T (p.Ser664=)
c.5127A>T (p.Ser1709=)
c.5118A>T (p.Ser1706=)
c.5109A>T (p.Ser1703=)
c.4995A>T (p.Ser1665=)
c.2979A>T (p.Ser993=)
c.669A>T (p.Ser223=)
n.5368A>T
18g.23876396G>ACA402045071LAMA3c.274G>A (p.Gly92Ser)
c.5101G>A (p.Gly1701Ser)
c.1993G>A (p.Gly665Ser)
c.5128G>A (p.Gly1710Ser)
c.5119G>A (p.Gly1707Ser)
c.5110G>A (p.Gly1704Ser)
c.4996G>A (p.Gly1666Ser)
c.2980G>A (p.Gly994Ser)
c.670G>A (p.Gly224Ser)
n.5369G>A
 gnomAD v4
18g.23876396G>CCA402045070LAMA3c.274G>C (p.Gly92Arg)
c.5101G>C (p.Gly1701Arg)
c.1993G>C (p.Gly665Arg)
c.5128G>C (p.Gly1710Arg)
c.5119G>C (p.Gly1707Arg)
c.5110G>C (p.Gly1704Arg)
c.4996G>C (p.Gly1666Arg)
c.2980G>C (p.Gly994Arg)
c.670G>C (p.Gly224Arg)
n.5369G>C
18g.23876396G>TCA402045072LAMA3c.274G>T (p.Gly92Cys)
c.5101G>T (p.Gly1701Cys)
c.1993G>T (p.Gly665Cys)
c.5128G>T (p.Gly1710Cys)
c.5119G>T (p.Gly1707Cys)
c.5110G>T (p.Gly1704Cys)
c.4996G>T (p.Gly1666Cys)
c.2980G>T (p.Gly994Cys)
c.670G>T (p.Gly224Cys)
n.5369G>T
18g.23876397G>ACA402045073LAMA3c.275G>A (p.Gly92Asp)
c.5102G>A (p.Gly1701Asp)
c.1994G>A (p.Gly665Asp)
c.5129G>A (p.Gly1710Asp)
c.5120G>A (p.Gly1707Asp)
c.5111G>A (p.Gly1704Asp)
c.4997G>A (p.Gly1666Asp)
c.2981G>A (p.Gly994Asp)
c.671G>A (p.Gly224Asp)
n.5370G>A
18g.23876397G>CCA402045074LAMA3c.275G>C (p.Gly92Ala)
c.5102G>C (p.Gly1701Ala)
c.1994G>C (p.Gly665Ala)
c.5129G>C (p.Gly1710Ala)
c.5120G>C (p.Gly1707Ala)
c.5111G>C (p.Gly1704Ala)
c.4997G>C (p.Gly1666Ala)
c.2981G>C (p.Gly994Ala)
c.671G>C (p.Gly224Ala)
n.5370G>C
18g.23876397G>TCA402045075LAMA3c.275G>T (p.Gly92Val)
c.5102G>T (p.Gly1701Val)
c.1994G>T (p.Gly665Val)
c.5129G>T (p.Gly1710Val)
c.5120G>T (p.Gly1707Val)
c.5111G>T (p.Gly1704Val)
c.4997G>T (p.Gly1666Val)
c.2981G>T (p.Gly994Val)
c.671G>T (p.Gly224Val)
n.5370G>T
 gnomAD v4
18g.23876398C>ACA503327951LAMA3c.276C>A (p.Gly92=)
c.5103C>A (p.Gly1701=)
c.1995C>A (p.Gly665=)
c.5130C>A (p.Gly1710=)
c.5121C>A (p.Gly1707=)
c.5112C>A (p.Gly1704=)
c.4998C>A (p.Gly1666=)
c.2982C>A (p.Gly994=)
c.672C>A (p.Gly224=)
n.5371C>A
18g.23876398C>GCA503327950LAMA3c.276C>G (p.Gly92=)
c.5103C>G (p.Gly1701=)
c.1995C>G (p.Gly665=)
c.5130C>G (p.Gly1710=)
c.5121C>G (p.Gly1707=)
c.5112C>G (p.Gly1704=)
c.4998C>G (p.Gly1666=)
c.2982C>G (p.Gly994=)
c.672C>G (p.Gly224=)
n.5371C>G
18g.23876398C>TCA503327949LAMA3c.276C>T (p.Gly92=)
c.5103C>T (p.Gly1701=)
c.1995C>T (p.Gly665=)
c.5130C>T (p.Gly1710=)
c.5121C>T (p.Gly1707=)
c.5112C>T (p.Gly1704=)
c.4998C>T (p.Gly1666=)
c.2982C>T (p.Gly994=)
c.672C>T (p.Gly224=)
n.5371C>T
18g.23876399A=CA2290312362LAMA3c.277A= (p.Ile93=)
c.5104A= (p.Ile1702=)
c.1996A= (p.Ile666=)
c.5131A= (p.Ile1711=)
c.5122A= (p.Ile1708=)
c.5113A= (p.Ile1705=)
c.4999A= (p.Ile1667=)
c.2983A= (p.Ile995=)
c.673A= (p.Ile225=)
n.5372A=
18g.23876399A>CCA402045076LAMA3c.277A>C (p.Ile93Leu)
c.5104A>C (p.Ile1702Leu)
c.1996A>C (p.Ile666Leu)
c.5131A>C (p.Ile1711Leu)
c.5122A>C (p.Ile1708Leu)
c.5113A>C (p.Ile1705Leu)
c.4999A>C (p.Ile1667Leu)
c.2983A>C (p.Ile995Leu)
c.673A>C (p.Ile225Leu)
n.5372A>C
18g.23876399A>GCA402045077LAMA3c.277A>G (p.Ile93Val)
c.5104A>G (p.Ile1702Val)
c.1996A>G (p.Ile666Val)
c.5131A>G (p.Ile1711Val)
c.5122A>G (p.Ile1708Val)
c.5113A>G (p.Ile1705Val)
c.4999A>G (p.Ile1667Val)
c.2983A>G (p.Ile995Val)
c.673A>G (p.Ile225Val)
n.5372A>G
 dbSNP gnomAD v4
18g.23876399A>TCA402045078LAMA3c.277A>T (p.Ile93Leu)
c.5104A>T (p.Ile1702Leu)
c.1996A>T (p.Ile666Leu)
c.5131A>T (p.Ile1711Leu)
c.5122A>T (p.Ile1708Leu)
c.5113A>T (p.Ile1705Leu)
c.4999A>T (p.Ile1667Leu)
c.2983A>T (p.Ile995Leu)
c.673A>T (p.Ile225Leu)
n.5372A>T
 dbSNP gnomAD v3 gnomAD v4
18g.23876400T>ACA402045079LAMA3c.278T>A (p.Ile93Lys)
c.5105T>A (p.Ile1702Lys)
c.1997T>A (p.Ile666Lys)
c.5132T>A (p.Ile1711Lys)
c.5123T>A (p.Ile1708Lys)
c.5114T>A (p.Ile1705Lys)
c.5000T>A (p.Ile1667Lys)
c.2984T>A (p.Ile995Lys)
c.674T>A (p.Ile225Lys)
n.5373T>A
18g.23876400T>CCA402045080LAMA3c.278T>C (p.Ile93Thr)
c.5105T>C (p.Ile1702Thr)
c.1997T>C (p.Ile666Thr)
c.5132T>C (p.Ile1711Thr)
c.5123T>C (p.Ile1708Thr)
c.5114T>C (p.Ile1705Thr)
c.5000T>C (p.Ile1667Thr)
c.2984T>C (p.Ile995Thr)
c.674T>C (p.Ile225Thr)
n.5373T>C
 COSMIC COSMIC
18g.23876400T>GCA402045081LAMA3c.278T>G (p.Ile93Arg)
c.5105T>G (p.Ile1702Arg)
c.1997T>G (p.Ile666Arg)
c.5132T>G (p.Ile1711Arg)
c.5123T>G (p.Ile1708Arg)
c.5114T>G (p.Ile1705Arg)
c.5000T>G (p.Ile1667Arg)
c.2984T>G (p.Ile995Arg)
c.674T>G (p.Ile225Arg)
n.5373T>G
18g.23876401A=CA2290312363LAMA3c.279A= (p.Ile93=)
c.5106A= (p.Ile1702=)
c.1998A= (p.Ile666=)
c.5133A= (p.Ile1711=)
c.5124A= (p.Ile1708=)
c.5115A= (p.Ile1705=)
c.5001A= (p.Ile1667=)
c.2985A= (p.Ile995=)
c.675A= (p.Ile225=)
n.5374A=
18g.23876401A>CCA503327954LAMA3c.279A>C (p.Ile93=)
c.5106A>C (p.Ile1702=)
c.1998A>C (p.Ile666=)
c.5133A>C (p.Ile1711=)
c.5124A>C (p.Ile1708=)
c.5115A>C (p.Ile1705=)
c.5001A>C (p.Ile1667=)
c.2985A>C (p.Ile995=)
c.675A>C (p.Ile225=)
n.5374A>C
18g.23876401A>GCA402045082LAMA3c.279A>G (p.Ile93Met)
c.5106A>G (p.Ile1702Met)
c.1998A>G (p.Ile666Met)
c.5133A>G (p.Ile1711Met)
c.5124A>G (p.Ile1708Met)
c.5115A>G (p.Ile1705Met)
c.5001A>G (p.Ile1667Met)
c.2985A>G (p.Ile995Met)
c.675A>G (p.Ile225Met)
n.5374A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.23876401A>TCA503327957LAMA3c.279A>T (p.Ile93=)
c.5106A>T (p.Ile1702=)
c.1998A>T (p.Ile666=)
c.5133A>T (p.Ile1711=)
c.5124A>T (p.Ile1708=)
c.5115A>T (p.Ile1705=)
c.5001A>T (p.Ile1667=)
c.2985A>T (p.Ile995=)
c.675A>T (p.Ile225=)
n.5374A>T
18g.23876402T>ACA402045083LAMA3c.280T>A (p.Cys94Ser)
c.5107T>A (p.Cys1703Ser)
c.1999T>A (p.Cys667Ser)
c.5134T>A (p.Cys1712Ser)
c.5125T>A (p.Cys1709Ser)
c.5116T>A (p.Cys1706Ser)
c.5002T>A (p.Cys1668Ser)
c.2986T>A (p.Cys996Ser)
c.676T>A (p.Cys226Ser)
n.5375T>A
18g.23876402T>CCA402045084LAMA3c.280T>C (p.Cys94Arg)
c.5107T>C (p.Cys1703Arg)
c.1999T>C (p.Cys667Arg)
c.5134T>C (p.Cys1712Arg)
c.5125T>C (p.Cys1709Arg)
c.5116T>C (p.Cys1706Arg)
c.5002T>C (p.Cys1668Arg)
c.2986T>C (p.Cys996Arg)
c.676T>C (p.Cys226Arg)
n.5375T>C
18g.23876402T>GCA402045085LAMA3c.280T>G (p.Cys94Gly)
c.5107T>G (p.Cys1703Gly)
c.1999T>G (p.Cys667Gly)
c.5134T>G (p.Cys1712Gly)
c.5125T>G (p.Cys1709Gly)
c.5116T>G (p.Cys1706Gly)
c.5002T>G (p.Cys1668Gly)
c.2986T>G (p.Cys996Gly)
c.676T>G (p.Cys226Gly)
n.5375T>G
18g.23876402_23876403delinsTGCA2290312364LAMA3c.280_281delinsTG (p.Cys94=)
c.5107_5108delinsTG (p.Cys1703=)
c.1999_2000delinsTG (p.Cys667=)
c.5134_5135delinsTG (p.Cys1712=)
c.5125_5126delinsTG (p.Cys1709=)
c.5116_5117delinsTG (p.Cys1706=)
c.5002_5003delinsTG (p.Cys1668=)
c.2986_2987delinsTG (p.Cys996=)
c.676_677delinsTG (p.Cys226=)
n.5375_5376delinsTG
18g.23876403delCA628681719LAMA3c.281del (p.Cys94LeufsTer?)
c.5108del (p.Cys1703LeufsTer?)
c.2000del (p.Cys667LeufsTer?)
c.5135del (p.Cys1712LeufsTer?)
c.5126del (p.Cys1709LeufsTer?)
c.5117del (p.Cys1706LeufsTer?)
c.5003del (p.Cys1668LeufsTer?)
c.2987del (p.Cys996LeufsTer?)
c.677del (p.Cys226LeufsTer?)
n.5376del
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23876403G>ACA402045088LAMA3c.281G>A (p.Cys94Tyr)
c.5108G>A (p.Cys1703Tyr)
c.2000G>A (p.Cys667Tyr)
c.5135G>A (p.Cys1712Tyr)
c.5126G>A (p.Cys1709Tyr)
c.5117G>A (p.Cys1706Tyr)
c.5003G>A (p.Cys1668Tyr)
c.2987G>A (p.Cys996Tyr)
c.677G>A (p.Cys226Tyr)
n.5376G>A
18g.23876403G>CCA402045086LAMA3c.281G>C (p.Cys94Ser)
c.5108G>C (p.Cys1703Ser)
c.2000G>C (p.Cys667Ser)
c.5135G>C (p.Cys1712Ser)
c.5126G>C (p.Cys1709Ser)
c.5117G>C (p.Cys1706Ser)
c.5003G>C (p.Cys1668Ser)
c.2987G>C (p.Cys996Ser)
c.677G>C (p.Cys226Ser)
n.5376G>C
18g.23876403G>TCA402045087LAMA3c.281G>T (p.Cys94Phe)
c.5108G>T (p.Cys1703Phe)
c.2000G>T (p.Cys667Phe)
c.5135G>T (p.Cys1712Phe)
c.5126G>T (p.Cys1709Phe)
c.5117G>T (p.Cys1706Phe)
c.5003G>T (p.Cys1668Phe)
c.2987G>T (p.Cys996Phe)
c.677G>T (p.Cys226Phe)
n.5376G>T
18g.23876404T>ACA402045089LAMA3c.282T>A (p.Cys94Ter)
c.5109T>A (p.Cys1703Ter)
c.2001T>A (p.Cys667Ter)
c.5136T>A (p.Cys1712Ter)
c.5127T>A (p.Cys1709Ter)
c.5118T>A (p.Cys1706Ter)
c.5004T>A (p.Cys1668Ter)
c.2988T>A (p.Cys996Ter)
c.678T>A (p.Cys226Ter)
n.5377T>A
18g.23876404T>CCA503327960LAMA3c.282T>C (p.Cys94=)
c.5109T>C (p.Cys1703=)
c.2001T>C (p.Cys667=)
c.5136T>C (p.Cys1712=)
c.5127T>C (p.Cys1709=)
c.5118T>C (p.Cys1706=)
c.5004T>C (p.Cys1668=)
c.2988T>C (p.Cys996=)
c.678T>C (p.Cys226=)
n.5377T>C
18g.23876404T>GCA8915885LAMA3c.282T>G (p.Cys94Trp)
c.5109T>G (p.Cys1703Trp)
c.2001T>G (p.Cys667Trp)
c.5136T>G (p.Cys1712Trp)
c.5127T>G (p.Cys1709Trp)
c.5118T>G (p.Cys1706Trp)
c.5004T>G (p.Cys1668Trp)
c.2988T>G (p.Cys996Trp)
c.678T>G (p.Cys226Trp)
n.5377T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23876404T=CA2290312365LAMA3c.282T= (p.Cys94=)
c.5109T= (p.Cys1703=)
c.2001T= (p.Cys667=)
c.5136T= (p.Cys1712=)
c.5127T= (p.Cys1709=)
c.5118T= (p.Cys1706=)
c.5004T= (p.Cys1668=)
c.2988T= (p.Cys996=)
c.678T= (p.Cys226=)
n.5377T=
18g.23876405G>ACA402045090LAMA3c.283G>A (p.Val95Ile)
c.5110G>A (p.Val1704Ile)
c.2002G>A (p.Val668Ile)
c.5137G>A (p.Val1713Ile)
c.5128G>A (p.Val1710Ile)
c.5119G>A (p.Val1707Ile)
c.5005G>A (p.Val1669Ile)
c.2989G>A (p.Val997Ile)
c.679G>A (p.Val227Ile)
n.5378G>A
 gnomAD v4
18g.23876405G>CCA402045091LAMA3c.283G>C (p.Val95Leu)
c.5110G>C (p.Val1704Leu)
c.2002G>C (p.Val668Leu)
c.5137G>C (p.Val1713Leu)
c.5128G>C (p.Val1710Leu)
c.5119G>C (p.Val1707Leu)
c.5005G>C (p.Val1669Leu)
c.2989G>C (p.Val997Leu)
c.679G>C (p.Val227Leu)
n.5378G>C
18g.23876405G>TCA402045092LAMA3c.283G>T (p.Val95Phe)
c.5110G>T (p.Val1704Phe)
c.2002G>T (p.Val668Phe)
c.5137G>T (p.Val1713Phe)
c.5128G>T (p.Val1710Phe)
c.5119G>T (p.Val1707Phe)
c.5005G>T (p.Val1669Phe)
c.2989G>T (p.Val997Phe)
c.679G>T (p.Val227Phe)
n.5378G>T
 dbSNP gnomAD v4
18g.23876406T>ACA402045093LAMA3c.284T>A (p.Val95Asp)
c.5111T>A (p.Val1704Asp)
c.2003T>A (p.Val668Asp)
c.5138T>A (p.Val1713Asp)
c.5129T>A (p.Val1710Asp)
c.5120T>A (p.Val1707Asp)
c.5006T>A (p.Val1669Asp)
c.2990T>A (p.Val997Asp)
c.680T>A (p.Val227Asp)
n.5379T>A
18g.23876406T>CCA402045094LAMA3c.284T>C (p.Val95Ala)
c.5111T>C (p.Val1704Ala)
c.2003T>C (p.Val668Ala)
c.5138T>C (p.Val1713Ala)
c.5129T>C (p.Val1710Ala)
c.5120T>C (p.Val1707Ala)
c.5006T>C (p.Val1669Ala)
c.2990T>C (p.Val997Ala)
c.680T>C (p.Val227Ala)
n.5379T>C
18g.23876406T>GCA402045095LAMA3c.284T>G (p.Val95Gly)
c.5111T>G (p.Val1704Gly)
c.2003T>G (p.Val668Gly)
c.5138T>G (p.Val1713Gly)
c.5129T>G (p.Val1710Gly)
c.5120T>G (p.Val1707Gly)
c.5006T>G (p.Val1669Gly)
c.2990T>G (p.Val997Gly)
c.680T>G (p.Val227Gly)
n.5379T>G
18g.23876407T>ACA503327962LAMA3c.285T>A (p.Val95=)
c.5112T>A (p.Val1704=)
c.2004T>A (p.Val668=)
c.5139T>A (p.Val1713=)
c.5130T>A (p.Val1710=)
c.5121T>A (p.Val1707=)
c.5007T>A (p.Val1669=)
c.2991T>A (p.Val997=)
c.681T>A (p.Val227=)
n.5380T>A
18g.23876407T>CCA503327964LAMA3c.285T>C (p.Val95=)
c.5112T>C (p.Val1704=)
c.2004T>C (p.Val668=)
c.5139T>C (p.Val1713=)
c.5130T>C (p.Val1710=)
c.5121T>C (p.Val1707=)
c.5007T>C (p.Val1669=)
c.2991T>C (p.Val997=)
c.681T>C (p.Val227=)
n.5380T>C
 gnomAD v4
18g.23876407T>GCA503327966LAMA3c.285T>G (p.Val95=)
c.5112T>G (p.Val1704=)
c.2004T>G (p.Val668=)
c.5139T>G (p.Val1713=)
c.5130T>G (p.Val1710=)
c.5121T>G (p.Val1707=)
c.5007T>G (p.Val1669=)
c.2991T>G (p.Val997=)
c.681T>G (p.Val227=)
n.5380T>G
18g.23876408G>ACA402045096LAMA3c.285+1G>A (n.285+1G>A)
c.5112+1G>A (n.5112+1G>A)
c.2004+1G>A (n.2004+1G>A)
c.5139+1G>A (n.5139+1G>A)
c.5130+1G>A (n.5130+1G>A)
c.5121+1G>A (n.5121+1G>A)
c.5007+1G>A (n.5007+1G>A)
c.2991+1G>A (n.2991+1G>A)
c.681+1G>A (n.681+1G>A)
n.5380+1G>A
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
18g.23876408G>CCA402045097LAMA3c.285+1G>C (n.285+1G>C)
c.5112+1G>C (n.5112+1G>C)
c.2004+1G>C (n.2004+1G>C)
c.5139+1G>C (n.5139+1G>C)
c.5130+1G>C (n.5130+1G>C)
c.5121+1G>C (n.5121+1G>C)
c.5007+1G>C (n.5007+1G>C)
c.2991+1G>C (n.2991+1G>C)
c.681+1G>C (n.681+1G>C)
n.5380+1G>C
18g.23876408G=CA2290312366LAMA3c.285+1G= (n.285+1G=)
c.5112+1G= (n.5112+1G=)
c.2004+1G= (n.2004+1G=)
c.5139+1G= (n.5139+1G=)
c.5130+1G= (n.5130+1G=)
c.5121+1G= (n.5121+1G=)
c.5007+1G= (n.5007+1G=)
c.2991+1G= (n.2991+1G=)
c.681+1G= (n.681+1G=)
n.5380+1G=
18g.23876408G>TCA16041928LAMA3c.285+1G>T (n.285+1G>T)
c.5112+1G>T (n.5112+1G>T)
c.2004+1G>T (n.2004+1G>T)
c.5139+1G>T (n.5139+1G>T)
c.5130+1G>T (n.5130+1G>T)
c.5121+1G>T (n.5121+1G>T)
c.5007+1G>T (n.5007+1G>T)
c.2991+1G>T (n.2991+1G>T)
c.681+1G>T (n.681+1G>T)
n.5380+1G>T
 ClinVar dbSNP
18g.23876409T>ACA402045100LAMA3c.285+2T>A (n.285+2T>A)
c.5112+2T>A (n.5112+2T>A)
c.2004+2T>A (n.2004+2T>A)
c.5139+2T>A (n.5139+2T>A)
c.5130+2T>A (n.5130+2T>A)
c.5121+2T>A (n.5121+2T>A)
c.5007+2T>A (n.5007+2T>A)
c.2991+2T>A (n.2991+2T>A)
c.681+2T>A (n.681+2T>A)
n.5380+2T>A
 dbSNP gnomAD v3 gnomAD v4
18g.23876409T>CCA402045099LAMA3c.285+2T>C (n.285+2T>C)
c.5112+2T>C (n.5112+2T>C)
c.2004+2T>C (n.2004+2T>C)
c.5139+2T>C (n.5139+2T>C)
c.5130+2T>C (n.5130+2T>C)
c.5121+2T>C (n.5121+2T>C)
c.5007+2T>C (n.5007+2T>C)
c.2991+2T>C (n.2991+2T>C)
c.681+2T>C (n.681+2T>C)
n.5380+2T>C
18g.23876409T>GCA402045098LAMA3c.285+2T>G (n.285+2T>G)
c.5112+2T>G (n.5112+2T>G)
c.2004+2T>G (n.2004+2T>G)
c.5139+2T>G (n.5139+2T>G)
c.5130+2T>G (n.5130+2T>G)
c.5121+2T>G (n.5121+2T>G)
c.5007+2T>G (n.5007+2T>G)
c.2991+2T>G (n.2991+2T>G)
c.681+2T>G (n.681+2T>G)
n.5380+2T>G
 ClinVar dbSNP
18g.23876409T=CA2290312367LAMA3c.285+2T= (n.285+2T=)
c.5112+2T= (n.5112+2T=)
c.2004+2T= (n.2004+2T=)
c.5139+2T= (n.5139+2T=)
c.5130+2T= (n.5130+2T=)
c.5121+2T= (n.5121+2T=)
c.5007+2T= (n.5007+2T=)
c.2991+2T= (n.2991+2T=)
c.681+2T= (n.681+2T=)
n.5380+2T=
18g.23876411A=CA2290312368LAMA3c.285+4A= (n.285+4A=)
c.5112+4A= (n.5112+4A=)
c.2004+4A= (n.2004+4A=)
c.5139+4A= (n.5139+4A=)
c.5130+4A= (n.5130+4A=)
c.5121+4A= (n.5121+4A=)
c.5007+4A= (n.5007+4A=)
c.2991+4A= (n.2991+4A=)
c.681+4A= (n.681+4A=)
n.5380+4A=
18g.23876411A>CCA2290312369LAMA3c.285+4A>C (n.285+4A>C)
c.5112+4A>C (n.5112+4A>C)
c.2004+4A>C (n.2004+4A>C)
c.5139+4A>C (n.5139+4A>C)
c.5130+4A>C (n.5130+4A>C)
c.5121+4A>C (n.5121+4A>C)
c.5007+4A>C (n.5007+4A>C)
c.2991+4A>C (n.2991+4A>C)
c.681+4A>C (n.681+4A>C)
n.5380+4A>C
 dbSNP gnomAD v4
18g.23876412G>ACA2641292714LAMA3c.285+5G>A (n.285+5G>A)
c.5112+5G>A (n.5112+5G>A)
c.2004+5G>A (n.2004+5G>A)
c.5139+5G>A (n.5139+5G>A)
c.5130+5G>A (n.5130+5G>A)
c.5121+5G>A (n.5121+5G>A)
c.5007+5G>A (n.5007+5G>A)
c.2991+5G>A (n.2991+5G>A)
c.681+5G>A (n.681+5G>A)
n.5380+5G>A
 gnomAD v4
18g.23876413T>ACA2641292715LAMA3c.285+6T>A (n.285+6T>A)
c.5112+6T>A (n.5112+6T>A)
c.2004+6T>A (n.2004+6T>A)
c.5139+6T>A (n.5139+6T>A)
c.5130+6T>A (n.5130+6T>A)
c.5121+6T>A (n.5121+6T>A)
c.5007+6T>A (n.5007+6T>A)
c.2991+6T>A (n.2991+6T>A)
c.681+6T>A (n.681+6T>A)
n.5380+6T>A
 gnomAD v4
18g.23876413T>CCA777750488LAMA3c.285+6T>C (n.285+6T>C)
c.5112+6T>C (n.5112+6T>C)
c.2004+6T>C (n.2004+6T>C)
c.5139+6T>C (n.5139+6T>C)
c.5130+6T>C (n.5130+6T>C)
c.5121+6T>C (n.5121+6T>C)
c.5007+6T>C (n.5007+6T>C)
c.2991+6T>C (n.2991+6T>C)
c.681+6T>C (n.681+6T>C)
n.5380+6T>C
 dbSNP gnomAD v3 gnomAD v4
18g.23876413T=CA2290312370LAMA3c.285+6T= (n.285+6T=)
c.5112+6T= (n.5112+6T=)
c.2004+6T= (n.2004+6T=)
c.5139+6T= (n.5139+6T=)
c.5130+6T= (n.5130+6T=)
c.5121+6T= (n.5121+6T=)
c.5007+6T= (n.5007+6T=)
c.2991+6T= (n.2991+6T=)
c.681+6T= (n.681+6T=)
n.5380+6T=
18g.23876415A>GCA2641292716LAMA3c.285+8A>G (n.285+8A>G)
c.5112+8A>G (n.5112+8A>G)
c.2004+8A>G (n.2004+8A>G)
c.5139+8A>G (n.5139+8A>G)
c.5130+8A>G (n.5130+8A>G)
c.5121+8A>G (n.5121+8A>G)
c.5007+8A>G (n.5007+8A>G)
c.2991+8A>G (n.2991+8A>G)
c.681+8A>G (n.681+8A>G)
n.5380+8A>G
 gnomAD v4
18g.23876417T>CCA8915886LAMA3c.285+10T>C (n.285+10T>C)
c.5112+10T>C (n.5112+10T>C)
c.2004+10T>C (n.2004+10T>C)
c.5139+10T>C (n.5139+10T>C)
c.5130+10T>C (n.5130+10T>C)
c.5121+10T>C (n.5121+10T>C)
c.5007+10T>C (n.5007+10T>C)
c.2991+10T>C (n.2991+10T>C)
c.681+10T>C (n.681+10T>C)
n.5380+10T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.23876417T=CA2290312371LAMA3c.285+10T= (n.285+10T=)
c.5112+10T= (n.5112+10T=)
c.2004+10T= (n.2004+10T=)
c.5139+10T= (n.5139+10T=)
c.5130+10T= (n.5130+10T=)
c.5121+10T= (n.5121+10T=)
c.5007+10T= (n.5007+10T=)
c.2991+10T= (n.2991+10T=)
c.681+10T= (n.681+10T=)
n.5380+10T=
18g.23876418T>GCA2576472629LAMA3c.285+11T>G (n.285+11T>G)
c.5112+11T>G (n.5112+11T>G)
c.2004+11T>G (n.2004+11T>G)
c.5139+11T>G (n.5139+11T>G)
c.5130+11T>G (n.5130+11T>G)
c.5121+11T>G (n.5121+11T>G)
c.5007+11T>G (n.5007+11T>G)
c.2991+11T>G (n.2991+11T>G)
c.681+11T>G (n.681+11T>G)
n.5380+11T>G
 gnomAD v4

Number of alleles fetched