Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.23876299T>ACA402044860LAMA3c.177T>A (p.Cys59Ter)
c.5004T>A (p.Cys1668Ter)
c.1896T>A (p.Cys632Ter)
c.5031T>A (p.Cys1677Ter)
c.5022T>A (p.Cys1674Ter)
c.5013T>A (p.Cys1671Ter)
c.4899T>A (p.Cys1633Ter)
c.2883T>A (p.Cys961Ter)
c.573T>A (p.Cys191Ter)
n.5272T>A
18g.23876299T>CCA503327803LAMA3c.177T>C (p.Cys59=)
c.5004T>C (p.Cys1668=)
c.1896T>C (p.Cys632=)
c.5031T>C (p.Cys1677=)
c.5022T>C (p.Cys1674=)
c.5013T>C (p.Cys1671=)
c.4899T>C (p.Cys1633=)
c.2883T>C (p.Cys961=)
c.573T>C (p.Cys191=)
n.5272T>C
 gnomAD v4
18g.23876299T>GCA402044861LAMA3c.177T>G (p.Cys59Trp)
c.5004T>G (p.Cys1668Trp)
c.1896T>G (p.Cys632Trp)
c.5031T>G (p.Cys1677Trp)
c.5022T>G (p.Cys1674Trp)
c.5013T>G (p.Cys1671Trp)
c.4899T>G (p.Cys1633Trp)
c.2883T>G (p.Cys961Trp)
c.573T>G (p.Cys191Trp)
n.5272T>G
18g.23876300A>CCA402044862LAMA3c.178A>C (p.Ser60Arg)
c.5005A>C (p.Ser1669Arg)
c.1897A>C (p.Ser633Arg)
c.5032A>C (p.Ser1678Arg)
c.5023A>C (p.Ser1675Arg)
c.5014A>C (p.Ser1672Arg)
c.4900A>C (p.Ser1634Arg)
c.2884A>C (p.Ser962Arg)
c.574A>C (p.Ser192Arg)
n.5273A>C
18g.23876300A>GCA402044863LAMA3c.178A>G (p.Ser60Gly)
c.5005A>G (p.Ser1669Gly)
c.1897A>G (p.Ser633Gly)
c.5032A>G (p.Ser1678Gly)
c.5023A>G (p.Ser1675Gly)
c.5014A>G (p.Ser1672Gly)
c.4900A>G (p.Ser1634Gly)
c.2884A>G (p.Ser962Gly)
c.574A>G (p.Ser192Gly)
n.5273A>G
18g.23876300A>TCA402044864LAMA3c.178A>T (p.Ser60Cys)
c.5005A>T (p.Ser1669Cys)
c.1897A>T (p.Ser633Cys)
c.5032A>T (p.Ser1678Cys)
c.5023A>T (p.Ser1675Cys)
c.5014A>T (p.Ser1672Cys)
c.4900A>T (p.Ser1634Cys)
c.2884A>T (p.Ser962Cys)
c.574A>T (p.Ser192Cys)
n.5273A>T
18g.23876301G>ACA402044865LAMA3c.179G>A (p.Ser60Asn)
c.5006G>A (p.Ser1669Asn)
c.1898G>A (p.Ser633Asn)
c.5033G>A (p.Ser1678Asn)
c.5024G>A (p.Ser1675Asn)
c.5015G>A (p.Ser1672Asn)
c.4901G>A (p.Ser1634Asn)
c.2885G>A (p.Ser962Asn)
c.575G>A (p.Ser192Asn)
n.5274G>A
18g.23876301G>CCA402044866LAMA3c.179G>C (p.Ser60Thr)
c.5006G>C (p.Ser1669Thr)
c.1898G>C (p.Ser633Thr)
c.5033G>C (p.Ser1678Thr)
c.5024G>C (p.Ser1675Thr)
c.5015G>C (p.Ser1672Thr)
c.4901G>C (p.Ser1634Thr)
c.2885G>C (p.Ser962Thr)
c.575G>C (p.Ser192Thr)
n.5274G>C
18g.23876301G>TCA402044867LAMA3c.179G>T (p.Ser60Ile)
c.5006G>T (p.Ser1669Ile)
c.1898G>T (p.Ser633Ile)
c.5033G>T (p.Ser1678Ile)
c.5024G>T (p.Ser1675Ile)
c.5015G>T (p.Ser1672Ile)
c.4901G>T (p.Ser1634Ile)
c.2885G>T (p.Ser962Ile)
c.575G>T (p.Ser192Ile)
n.5274G>T
18g.23876302C>ACA402044868LAMA3c.180C>A (p.Ser60Arg)
c.5007C>A (p.Ser1669Arg)
c.1899C>A (p.Ser633Arg)
c.5034C>A (p.Ser1678Arg)
c.5025C>A (p.Ser1675Arg)
c.5016C>A (p.Ser1672Arg)
c.4902C>A (p.Ser1634Arg)
c.2886C>A (p.Ser962Arg)
c.576C>A (p.Ser192Arg)
n.5275C>A
 gnomAD v4
18g.23876302C=CA2290312320LAMA3c.180C= (p.Ser60=)
c.5007C= (p.Ser1669=)
c.1899C= (p.Ser633=)
c.5034C= (p.Ser1678=)
c.5025C= (p.Ser1675=)
c.5016C= (p.Ser1672=)
c.4902C= (p.Ser1634=)
c.2886C= (p.Ser962=)
c.576C= (p.Ser192=)
n.5275C=
18g.23876302C>GCA402044869LAMA3c.180C>G (p.Ser60Arg)
c.5007C>G (p.Ser1669Arg)
c.1899C>G (p.Ser633Arg)
c.5034C>G (p.Ser1678Arg)
c.5025C>G (p.Ser1675Arg)
c.5016C>G (p.Ser1672Arg)
c.4902C>G (p.Ser1634Arg)
c.2886C>G (p.Ser962Arg)
c.576C>G (p.Ser192Arg)
n.5275C>G
18g.23876302C>TCA8915861LAMA3c.180C>T (p.Ser60=)
c.5007C>T (p.Ser1669=)
c.1899C>T (p.Ser633=)
c.5034C>T (p.Ser1678=)
c.5025C>T (p.Ser1675=)
c.5016C>T (p.Ser1672=)
c.4902C>T (p.Ser1634=)
c.2886C>T (p.Ser962=)
c.576C>T (p.Ser192=)
n.5275C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23876303C>ACA402044871LAMA3c.181C>A (p.Pro61Thr)
c.5008C>A (p.Pro1670Thr)
c.1900C>A (p.Pro634Thr)
c.5035C>A (p.Pro1679Thr)
c.5026C>A (p.Pro1676Thr)
c.5017C>A (p.Pro1673Thr)
c.4903C>A (p.Pro1635Thr)
c.2887C>A (p.Pro963Thr)
c.577C>A (p.Pro193Thr)
n.5276C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23876303C=CA2290312321LAMA3c.181C= (p.Pro61=)
c.5008C= (p.Pro1670=)
c.1900C= (p.Pro634=)
c.5035C= (p.Pro1679=)
c.5026C= (p.Pro1676=)
c.5017C= (p.Pro1673=)
c.4903C= (p.Pro1635=)
c.2887C= (p.Pro963=)
c.577C= (p.Pro193=)
n.5276C=
18g.23876303C>GCA8915862LAMA3c.181C>G (p.Pro61Ala)
c.5008C>G (p.Pro1670Ala)
c.1900C>G (p.Pro634Ala)
c.5035C>G (p.Pro1679Ala)
c.5026C>G (p.Pro1676Ala)
c.5017C>G (p.Pro1673Ala)
c.4903C>G (p.Pro1635Ala)
c.2887C>G (p.Pro963Ala)
c.577C>G (p.Pro193Ala)
n.5276C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23876303C>TCA402044870LAMA3c.181C>T (p.Pro61Ser)
c.5008C>T (p.Pro1670Ser)
c.1900C>T (p.Pro634Ser)
c.5035C>T (p.Pro1679Ser)
c.5026C>T (p.Pro1676Ser)
c.5017C>T (p.Pro1673Ser)
c.4903C>T (p.Pro1635Ser)
c.2887C>T (p.Pro963Ser)
c.577C>T (p.Pro193Ser)
n.5276C>T
 gnomAD v4
18g.23876304C>ACA402044872LAMA3c.182C>A (p.Pro61His)
c.5009C>A (p.Pro1670His)
c.1901C>A (p.Pro634His)
c.5036C>A (p.Pro1679His)
c.5027C>A (p.Pro1676His)
c.5018C>A (p.Pro1673His)
c.4904C>A (p.Pro1635His)
c.2888C>A (p.Pro963His)
c.578C>A (p.Pro193His)
n.5277C>A
18g.23876304C>GCA402044873LAMA3c.182C>G (p.Pro61Arg)
c.5009C>G (p.Pro1670Arg)
c.1901C>G (p.Pro634Arg)
c.5036C>G (p.Pro1679Arg)
c.5027C>G (p.Pro1676Arg)
c.5018C>G (p.Pro1673Arg)
c.4904C>G (p.Pro1635Arg)
c.2888C>G (p.Pro963Arg)
c.578C>G (p.Pro193Arg)
n.5277C>G
18g.23876304C>TCA402044874LAMA3c.182C>T (p.Pro61Leu)
c.5009C>T (p.Pro1670Leu)
c.1901C>T (p.Pro634Leu)
c.5036C>T (p.Pro1679Leu)
c.5027C>T (p.Pro1676Leu)
c.5018C>T (p.Pro1673Leu)
c.4904C>T (p.Pro1635Leu)
c.2888C>T (p.Pro963Leu)
c.578C>T (p.Pro193Leu)
n.5277C>T
 COSMIC COSMIC
18g.23876305T>ACA503327807LAMA3c.183T>A (p.Pro61=)
c.5010T>A (p.Pro1670=)
c.1902T>A (p.Pro634=)
c.5037T>A (p.Pro1679=)
c.5028T>A (p.Pro1676=)
c.5019T>A (p.Pro1673=)
c.4905T>A (p.Pro1635=)
c.2889T>A (p.Pro963=)
c.579T>A (p.Pro193=)
n.5278T>A
 gnomAD v4
18g.23876305T>CCA503327809LAMA3c.183T>C (p.Pro61=)
c.5010T>C (p.Pro1670=)
c.1902T>C (p.Pro634=)
c.5037T>C (p.Pro1679=)
c.5028T>C (p.Pro1676=)
c.5019T>C (p.Pro1673=)
c.4905T>C (p.Pro1635=)
c.2889T>C (p.Pro963=)
c.579T>C (p.Pro193=)
n.5278T>C
18g.23876305T>GCA503327811LAMA3c.183T>G (p.Pro61=)
c.5010T>G (p.Pro1670=)
c.1902T>G (p.Pro634=)
c.5037T>G (p.Pro1679=)
c.5028T>G (p.Pro1676=)
c.5019T>G (p.Pro1673=)
c.4905T>G (p.Pro1635=)
c.2889T>G (p.Pro963=)
c.579T>G (p.Pro193=)
n.5278T>G
18g.23876306G>ACA297091426LAMA3c.184G>A (p.Gly62Arg)
c.5011G>A (p.Gly1671Arg)
c.1903G>A (p.Gly635Arg)
c.5038G>A (p.Gly1680Arg)
c.5029G>A (p.Gly1677Arg)
c.5020G>A (p.Gly1674Arg)
c.4906G>A (p.Gly1636Arg)
c.2890G>A (p.Gly964Arg)
c.580G>A (p.Gly194Arg)
n.5279G>A
 dbSNP gnomAD v3 gnomAD v4
18g.23876306G>CCA402044875LAMA3c.184G>C (p.Gly62Arg)
c.5011G>C (p.Gly1671Arg)
c.1903G>C (p.Gly635Arg)
c.5038G>C (p.Gly1680Arg)
c.5029G>C (p.Gly1677Arg)
c.5020G>C (p.Gly1674Arg)
c.4906G>C (p.Gly1636Arg)
c.2890G>C (p.Gly964Arg)
c.580G>C (p.Gly194Arg)
n.5279G>C
18g.23876306G=CA2290312322LAMA3c.184G= (p.Gly62=)
c.5011G= (p.Gly1671=)
c.1903G= (p.Gly635=)
c.5038G= (p.Gly1680=)
c.5029G= (p.Gly1677=)
c.5020G= (p.Gly1674=)
c.4906G= (p.Gly1636=)
c.2890G= (p.Gly964=)
c.580G= (p.Gly194=)
n.5279G=
18g.23876306G>TCA402044876LAMA3c.184G>T (p.Gly62Ter)
c.5011G>T (p.Gly1671Ter)
c.1903G>T (p.Gly635Ter)
c.5038G>T (p.Gly1680Ter)
c.5029G>T (p.Gly1677Ter)
c.5020G>T (p.Gly1674Ter)
c.4906G>T (p.Gly1636Ter)
c.2890G>T (p.Gly964Ter)
c.580G>T (p.Gly194Ter)
n.5279G>T
18g.23876307G>ACA402044877LAMA3c.185G>A (p.Gly62Glu)
c.5012G>A (p.Gly1671Glu)
c.1904G>A (p.Gly635Glu)
c.5039G>A (p.Gly1680Glu)
c.5030G>A (p.Gly1677Glu)
c.5021G>A (p.Gly1674Glu)
c.4907G>A (p.Gly1636Glu)
c.2891G>A (p.Gly964Glu)
c.581G>A (p.Gly194Glu)
n.5280G>A
18g.23876307G>CCA402044878LAMA3c.185G>C (p.Gly62Ala)
c.5012G>C (p.Gly1671Ala)
c.1904G>C (p.Gly635Ala)
c.5039G>C (p.Gly1680Ala)
c.5030G>C (p.Gly1677Ala)
c.5021G>C (p.Gly1674Ala)
c.4907G>C (p.Gly1636Ala)
c.2891G>C (p.Gly964Ala)
c.581G>C (p.Gly194Ala)
n.5280G>C
18g.23876307G=CA2290312323LAMA3c.185G= (p.Gly62=)
c.5012G= (p.Gly1671=)
c.1904G= (p.Gly635=)
c.5039G= (p.Gly1680=)
c.5030G= (p.Gly1677=)
c.5021G= (p.Gly1674=)
c.4907G= (p.Gly1636=)
c.2891G= (p.Gly964=)
c.581G= (p.Gly194=)
n.5280G=
18g.23876307G>TCA8915863LAMA3c.185G>T (p.Gly62Val)
c.5012G>T (p.Gly1671Val)
c.1904G>T (p.Gly635Val)
c.5039G>T (p.Gly1680Val)
c.5030G>T (p.Gly1677Val)
c.5021G>T (p.Gly1674Val)
c.4907G>T (p.Gly1636Val)
c.2891G>T (p.Gly964Val)
c.581G>T (p.Gly194Val)
n.5280G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23876308A=CA2290312324LAMA3c.186A= (p.Gly62=)
c.5013A= (p.Gly1671=)
c.1905A= (p.Gly635=)
c.5040A= (p.Gly1680=)
c.5031A= (p.Gly1677=)
c.5022A= (p.Gly1674=)
c.4908A= (p.Gly1636=)
c.2892A= (p.Gly964=)
c.582A= (p.Gly194=)
n.5281A=
18g.23876308A>CCA503327812LAMA3c.186A>C (p.Gly62=)
c.5013A>C (p.Gly1671=)
c.1905A>C (p.Gly635=)
c.5040A>C (p.Gly1680=)
c.5031A>C (p.Gly1677=)
c.5022A>C (p.Gly1674=)
c.4908A>C (p.Gly1636=)
c.2892A>C (p.Gly964=)
c.582A>C (p.Gly194=)
n.5281A>C
 dbSNP
18g.23876308A>GCA503327813LAMA3c.186A>G (p.Gly62=)
c.5013A>G (p.Gly1671=)
c.1905A>G (p.Gly635=)
c.5040A>G (p.Gly1680=)
c.5031A>G (p.Gly1677=)
c.5022A>G (p.Gly1674=)
c.4908A>G (p.Gly1636=)
c.2892A>G (p.Gly964=)
c.582A>G (p.Gly194=)
n.5281A>G
18g.23876308A>TCA503327815LAMA3c.186A>T (p.Gly62=)
c.5013A>T (p.Gly1671=)
c.1905A>T (p.Gly635=)
c.5040A>T (p.Gly1680=)
c.5031A>T (p.Gly1677=)
c.5022A>T (p.Gly1674=)
c.4908A>T (p.Gly1636=)
c.2892A>T (p.Gly964=)
c.582A>T (p.Gly194=)
n.5281A>T
18g.23876309T>ACA402044879LAMA3c.187T>A (p.Tyr63Asn)
c.5014T>A (p.Tyr1672Asn)
c.1906T>A (p.Tyr636Asn)
c.5041T>A (p.Tyr1681Asn)
c.5032T>A (p.Tyr1678Asn)
c.5023T>A (p.Tyr1675Asn)
c.4909T>A (p.Tyr1637Asn)
c.2893T>A (p.Tyr965Asn)
c.583T>A (p.Tyr195Asn)
n.5282T>A
18g.23876309T>CCA402044880LAMA3c.187T>C (p.Tyr63His)
c.5014T>C (p.Tyr1672His)
c.1906T>C (p.Tyr636His)
c.5041T>C (p.Tyr1681His)
c.5032T>C (p.Tyr1678His)
c.5023T>C (p.Tyr1675His)
c.4909T>C (p.Tyr1637His)
c.2893T>C (p.Tyr965His)
c.583T>C (p.Tyr195His)
n.5282T>C
18g.23876309T>GCA402044881LAMA3c.187T>G (p.Tyr63Asp)
c.5014T>G (p.Tyr1672Asp)
c.1906T>G (p.Tyr636Asp)
c.5041T>G (p.Tyr1681Asp)
c.5032T>G (p.Tyr1678Asp)
c.5023T>G (p.Tyr1675Asp)
c.4909T>G (p.Tyr1637Asp)
c.2893T>G (p.Tyr965Asp)
c.583T>G (p.Tyr195Asp)
n.5282T>G
18g.23876310A=CA2290312325LAMA3c.188A= (p.Tyr63=)
c.5015A= (p.Tyr1672=)
c.1907A= (p.Tyr636=)
c.5042A= (p.Tyr1681=)
c.5033A= (p.Tyr1678=)
c.5024A= (p.Tyr1675=)
c.4910A= (p.Tyr1637=)
c.2894A= (p.Tyr965=)
c.584A= (p.Tyr195=)
n.5283A=
18g.23876310A>CCA402044884LAMA3c.188A>C (p.Tyr63Ser)
c.5015A>C (p.Tyr1672Ser)
c.1907A>C (p.Tyr636Ser)
c.5042A>C (p.Tyr1681Ser)
c.5033A>C (p.Tyr1678Ser)
c.5024A>C (p.Tyr1675Ser)
c.4910A>C (p.Tyr1637Ser)
c.2894A>C (p.Tyr965Ser)
c.584A>C (p.Tyr195Ser)
n.5283A>C
18g.23876310A>GCA402044882LAMA3c.188A>G (p.Tyr63Cys)
c.5015A>G (p.Tyr1672Cys)
c.1907A>G (p.Tyr636Cys)
c.5042A>G (p.Tyr1681Cys)
c.5033A>G (p.Tyr1678Cys)
c.5024A>G (p.Tyr1675Cys)
c.4910A>G (p.Tyr1637Cys)
c.2894A>G (p.Tyr965Cys)
c.584A>G (p.Tyr195Cys)
n.5283A>G
 dbSNP gnomAD v2 gnomAD v4
18g.23876310A>TCA402044883LAMA3c.188A>T (p.Tyr63Phe)
c.5015A>T (p.Tyr1672Phe)
c.1907A>T (p.Tyr636Phe)
c.5042A>T (p.Tyr1681Phe)
c.5033A>T (p.Tyr1678Phe)
c.5024A>T (p.Tyr1675Phe)
c.4910A>T (p.Tyr1637Phe)
c.2894A>T (p.Tyr965Phe)
c.584A>T (p.Tyr195Phe)
n.5283A>T
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=

Number of alleles fetched