Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.23876315C>ACA503327825LAMA3c.193C>A (p.Arg65=)
c.5020C>A (p.Arg1674=)
c.1912C>A (p.Arg638=)
c.5047C>A (p.Arg1683=)
c.5038C>A (p.Arg1680=)
c.5029C>A (p.Arg1677=)
c.4915C>A (p.Arg1639=)
c.2899C>A (p.Arg967=)
c.589C>A (p.Arg197=)
n.5288C>A
 dbSNP
18g.23876315C=CA2290312329LAMA3c.193C= (p.Arg65=)
c.5020C= (p.Arg1674=)
c.1912C= (p.Arg638=)
c.5047C= (p.Arg1683=)
c.5038C= (p.Arg1680=)
c.5029C= (p.Arg1677=)
c.4915C= (p.Arg1639=)
c.2899C= (p.Arg967=)
c.589C= (p.Arg197=)
n.5288C=
18g.23876315C>GCA402044894LAMA3c.193C>G (p.Arg65Gly)
c.5020C>G (p.Arg1674Gly)
c.1912C>G (p.Arg638Gly)
c.5047C>G (p.Arg1683Gly)
c.5038C>G (p.Arg1680Gly)
c.5029C>G (p.Arg1677Gly)
c.4915C>G (p.Arg1639Gly)
c.2899C>G (p.Arg967Gly)
c.589C>G (p.Arg197Gly)
n.5288C>G
18g.23876315C>TCA8915865LAMA3c.193C>T (p.Arg65Trp)
c.5020C>T (p.Arg1674Trp)
c.1912C>T (p.Arg638Trp)
c.5047C>T (p.Arg1683Trp)
c.5038C>T (p.Arg1680Trp)
c.5029C>T (p.Arg1677Trp)
c.4915C>T (p.Arg1639Trp)
c.2899C>T (p.Arg967Trp)
c.589C>T (p.Arg197Trp)
n.5288C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23876316G>ACA8915866LAMA3c.194G>A (p.Arg65Gln)
c.5021G>A (p.Arg1674Gln)
c.1913G>A (p.Arg638Gln)
c.5048G>A (p.Arg1683Gln)
c.5039G>A (p.Arg1680Gln)
c.5030G>A (p.Arg1677Gln)
c.4916G>A (p.Arg1639Gln)
c.2900G>A (p.Arg967Gln)
c.590G>A (p.Arg197Gln)
n.5289G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23876316G>CCA402044896LAMA3c.194G>C (p.Arg65Pro)
c.5021G>C (p.Arg1674Pro)
c.1913G>C (p.Arg638Pro)
c.5048G>C (p.Arg1683Pro)
c.5039G>C (p.Arg1680Pro)
c.5030G>C (p.Arg1677Pro)
c.4916G>C (p.Arg1639Pro)
c.2900G>C (p.Arg967Pro)
c.590G>C (p.Arg197Pro)
n.5289G>C
 gnomAD v4
18g.23876316G=CA2290312330LAMA3c.194G= (p.Arg65=)
c.5021G= (p.Arg1674=)
c.1913G= (p.Arg638=)
c.5048G= (p.Arg1683=)
c.5039G= (p.Arg1680=)
c.5030G= (p.Arg1677=)
c.4916G= (p.Arg1639=)
c.2900G= (p.Arg967=)
c.590G= (p.Arg197=)
n.5289G=
18g.23876316G>TCA402044895LAMA3c.194G>T (p.Arg65Leu)
c.5021G>T (p.Arg1674Leu)
c.1913G>T (p.Arg638Leu)
c.5048G>T (p.Arg1683Leu)
c.5039G>T (p.Arg1680Leu)
c.5030G>T (p.Arg1677Leu)
c.4916G>T (p.Arg1639Leu)
c.2900G>T (p.Arg967Leu)
c.590G>T (p.Arg197Leu)
n.5289G>T
18g.23876317G>ACA503327826LAMA3c.195G>A (p.Arg65=)
c.5022G>A (p.Arg1674=)
c.1914G>A (p.Arg638=)
c.5049G>A (p.Arg1683=)
c.5040G>A (p.Arg1680=)
c.5031G>A (p.Arg1677=)
c.4917G>A (p.Arg1639=)
c.2901G>A (p.Arg967=)
c.591G>A (p.Arg197=)
n.5290G>A
 dbSNP
18g.23876317G>CCA503327827LAMA3c.195G>C (p.Arg65=)
c.5022G>C (p.Arg1674=)
c.1914G>C (p.Arg638=)
c.5049G>C (p.Arg1683=)
c.5040G>C (p.Arg1680=)
c.5031G>C (p.Arg1677=)
c.4917G>C (p.Arg1639=)
c.2901G>C (p.Arg967=)
c.591G>C (p.Arg197=)
n.5290G>C
18g.23876317G=CA2290312331LAMA3c.195G= (p.Arg65=)
c.5022G= (p.Arg1674=)
c.1914G= (p.Arg638=)
c.5049G= (p.Arg1683=)
c.5040G= (p.Arg1680=)
c.5031G= (p.Arg1677=)
c.4917G= (p.Arg1639=)
c.2901G= (p.Arg967=)
c.591G= (p.Arg197=)
n.5290G=
18g.23876317G>TCA503327830LAMA3c.195G>T (p.Arg65=)
c.5022G>T (p.Arg1674=)
c.1914G>T (p.Arg638=)
c.5049G>T (p.Arg1683=)
c.5040G>T (p.Arg1680=)
c.5031G>T (p.Arg1677=)
c.4917G>T (p.Arg1639=)
c.2901G>T (p.Arg967=)
c.591G>T (p.Arg197=)
n.5290G>T
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

Number of alleles fetched