Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.23876311C>ACA402044885LAMA3c.189C>A (p.Tyr63Ter)
c.5016C>A (p.Tyr1672Ter)
c.1908C>A (p.Tyr636Ter)
c.5043C>A (p.Tyr1681Ter)
c.5034C>A (p.Tyr1678Ter)
c.5025C>A (p.Tyr1675Ter)
c.4911C>A (p.Tyr1637Ter)
c.2895C>A (p.Tyr965Ter)
c.585C>A (p.Tyr195Ter)
n.5284C>A
 ClinVar dbSNP
18g.23876311C=CA2290312326LAMA3c.189C= (p.Tyr63=)
c.5016C= (p.Tyr1672=)
c.1908C= (p.Tyr636=)
c.5043C= (p.Tyr1681=)
c.5034C= (p.Tyr1678=)
c.5025C= (p.Tyr1675=)
c.4911C= (p.Tyr1637=)
c.2895C= (p.Tyr965=)
c.585C= (p.Tyr195=)
n.5284C=
18g.23876311C>GCA402044886LAMA3c.189C>G (p.Tyr63Ter)
c.5016C>G (p.Tyr1672Ter)
c.1908C>G (p.Tyr636Ter)
c.5043C>G (p.Tyr1681Ter)
c.5034C>G (p.Tyr1678Ter)
c.5025C>G (p.Tyr1675Ter)
c.4911C>G (p.Tyr1637Ter)
c.2895C>G (p.Tyr965Ter)
c.585C>G (p.Tyr195Ter)
n.5284C>G
18g.23876311C>TCA503327818LAMA3c.189C>T (p.Tyr63=)
c.5016C>T (p.Tyr1672=)
c.1908C>T (p.Tyr636=)
c.5043C>T (p.Tyr1681=)
c.5034C>T (p.Tyr1678=)
c.5025C>T (p.Tyr1675=)
c.4911C>T (p.Tyr1637=)
c.2895C>T (p.Tyr965=)
c.585C>T (p.Tyr195=)
n.5284C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.23876312T>ACA402044887LAMA3c.190T>A (p.Tyr64Asn)
c.5017T>A (p.Tyr1673Asn)
c.1909T>A (p.Tyr637Asn)
c.5044T>A (p.Tyr1682Asn)
c.5035T>A (p.Tyr1679Asn)
c.5026T>A (p.Tyr1676Asn)
c.4912T>A (p.Tyr1638Asn)
c.2896T>A (p.Tyr966Asn)
c.586T>A (p.Tyr196Asn)
n.5285T>A
18g.23876312T>CCA402044888LAMA3c.190T>C (p.Tyr64His)
c.5017T>C (p.Tyr1673His)
c.1909T>C (p.Tyr637His)
c.5044T>C (p.Tyr1682His)
c.5035T>C (p.Tyr1679His)
c.5026T>C (p.Tyr1676His)
c.4912T>C (p.Tyr1638His)
c.2896T>C (p.Tyr966His)
c.586T>C (p.Tyr196His)
n.5285T>C
 dbSNP gnomAD v2 gnomAD v4
18g.23876312T>GCA402044889LAMA3c.190T>G (p.Tyr64Asp)
c.5017T>G (p.Tyr1673Asp)
c.1909T>G (p.Tyr637Asp)
c.5044T>G (p.Tyr1682Asp)
c.5035T>G (p.Tyr1679Asp)
c.5026T>G (p.Tyr1676Asp)
c.4912T>G (p.Tyr1638Asp)
c.2896T>G (p.Tyr966Asp)
c.586T>G (p.Tyr196Asp)
n.5285T>G
18g.23876312T=CA2290312327LAMA3c.190T= (p.Tyr64=)
c.5017T= (p.Tyr1673=)
c.1909T= (p.Tyr637=)
c.5044T= (p.Tyr1682=)
c.5035T= (p.Tyr1679=)
c.5026T= (p.Tyr1676=)
c.4912T= (p.Tyr1638=)
c.2896T= (p.Tyr966=)
c.586T= (p.Tyr196=)
n.5285T=
18g.23876313A=CA2290312328LAMA3c.191A= (p.Tyr64=)
c.5018A= (p.Tyr1673=)
c.1910A= (p.Tyr637=)
c.5045A= (p.Tyr1682=)
c.5036A= (p.Tyr1679=)
c.5027A= (p.Tyr1676=)
c.4913A= (p.Tyr1638=)
c.2897A= (p.Tyr966=)
c.587A= (p.Tyr196=)
n.5286A=
18g.23876313A>CCA402044890LAMA3c.191A>C (p.Tyr64Ser)
c.5018A>C (p.Tyr1673Ser)
c.1910A>C (p.Tyr637Ser)
c.5045A>C (p.Tyr1682Ser)
c.5036A>C (p.Tyr1679Ser)
c.5027A>C (p.Tyr1676Ser)
c.4913A>C (p.Tyr1638Ser)
c.2897A>C (p.Tyr966Ser)
c.587A>C (p.Tyr196Ser)
n.5286A>C
18g.23876313A>GCA8915864LAMA3c.191A>G (p.Tyr64Cys)
c.5018A>G (p.Tyr1673Cys)
c.1910A>G (p.Tyr637Cys)
c.5045A>G (p.Tyr1682Cys)
c.5036A>G (p.Tyr1679Cys)
c.5027A>G (p.Tyr1676Cys)
c.4913A>G (p.Tyr1638Cys)
c.2897A>G (p.Tyr966Cys)
c.587A>G (p.Tyr196Cys)
n.5286A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23876313A>TCA402044891LAMA3c.191A>T (p.Tyr64Phe)
c.5018A>T (p.Tyr1673Phe)
c.1910A>T (p.Tyr637Phe)
c.5045A>T (p.Tyr1682Phe)
c.5036A>T (p.Tyr1679Phe)
c.5027A>T (p.Tyr1676Phe)
c.4913A>T (p.Tyr1638Phe)
c.2897A>T (p.Tyr966Phe)
c.587A>T (p.Tyr196Phe)
n.5286A>T
18g.23876314T>ACA402044892LAMA3c.192T>A (p.Tyr64Ter)
c.5019T>A (p.Tyr1673Ter)
c.1911T>A (p.Tyr637Ter)
c.5046T>A (p.Tyr1682Ter)
c.5037T>A (p.Tyr1679Ter)
c.5028T>A (p.Tyr1676Ter)
c.4914T>A (p.Tyr1638Ter)
c.2898T>A (p.Tyr966Ter)
c.588T>A (p.Tyr196Ter)
n.5287T>A
18g.23876314T>CCA503327823LAMA3c.192T>C (p.Tyr64=)
c.5019T>C (p.Tyr1673=)
c.1911T>C (p.Tyr637=)
c.5046T>C (p.Tyr1682=)
c.5037T>C (p.Tyr1679=)
c.5028T>C (p.Tyr1676=)
c.4914T>C (p.Tyr1638=)
c.2898T>C (p.Tyr966=)
c.588T>C (p.Tyr196=)
n.5287T>C
18g.23876314T>GCA402044893LAMA3c.192T>G (p.Tyr64Ter)
c.5019T>G (p.Tyr1673Ter)
c.1911T>G (p.Tyr637Ter)
c.5046T>G (p.Tyr1682Ter)
c.5037T>G (p.Tyr1679Ter)
c.5028T>G (p.Tyr1676Ter)
c.4914T>G (p.Tyr1638Ter)
c.2898T>G (p.Tyr966Ter)
c.588T>G (p.Tyr196Ter)
n.5287T>G
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

Number of alleles fetched