Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.23876300A>C | CA402044862 | LAMA3 | c.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 | |
18 | g.23876300A>G | CA402044863 | LAMA3 | c.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 | |
18 | g.23876300A>T | CA402044864 | LAMA3 | c.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 | |
18 | g.23876301G>A | CA402044865 | LAMA3 | c.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 | |
18 | g.23876301G>C | CA402044866 | LAMA3 | c.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 | |
18 | g.23876301G>T | CA402044867 | LAMA3 | c.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 | |
18 | g.23876302C>A | CA402044868 | LAMA3 | c.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 |
18 | g.23876302C= | CA2290312320 | LAMA3 | c.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= | |
18 | g.23876302C>G | CA402044869 | LAMA3 | c.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 | |
18 | g.23876302C>T | CA8915861 | LAMA3 | c.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 |
18 | g.23876303C>A | CA402044871 | LAMA3 | c.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 |
18 | g.23876303C= | CA2290312321 | LAMA3 | c.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= | |
18 | g.23876303C>G | CA8915862 | LAMA3 | c.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 |
18 | g.23876303C>T | CA402044870 | LAMA3 | c.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 |
18 | g.23876304C>A | CA402044872 | LAMA3 | c.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 | |
18 | g.23876304C>G | CA402044873 | LAMA3 | c.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 | |
18 | g.23876304C>T | CA402044874 | LAMA3 | c.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 |
18 | g.23876305T>A | CA503327807 | LAMA3 | c.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 |
18 | g.23876305T>C | CA503327809 | LAMA3 | c.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 | |
18 | g.23876305T>G | CA503327811 | LAMA3 | c.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 | |
18 | g.23876306G>A | CA297091426 | LAMA3 | c.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 |
18 | g.23876306G>C | CA402044875 | LAMA3 | c.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 | |
18 | g.23876306G= | CA2290312322 | LAMA3 | c.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= | |
18 | g.23876306G>T | CA402044876 | LAMA3 | c.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 | |
18 | g.23876307G>A | CA402044877 | LAMA3 | c.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 | |
18 | g.23876307G>C | CA402044878 | LAMA3 | c.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 | |
18 | g.23876307G= | CA2290312323 | LAMA3 | c.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= | |
18 | g.23876307G>T | CA8915863 | LAMA3 | c.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 |
18 | g.23876308A= | CA2290312324 | LAMA3 | c.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= | |
18 | g.23876308A>C | CA503327812 | LAMA3 | c.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 |
18 | g.23876308A>G | CA503327813 | LAMA3 | c.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 | |
18 | g.23876308A>T | CA503327815 | LAMA3 | c.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 | |
18 | g.23876309T>A | CA402044879 | LAMA3 | c.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 | |
18 | g.23876309T>C | CA402044880 | LAMA3 | c.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 | |
18 | g.23876309T>G | CA402044881 | LAMA3 | c.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 | |
18 | g.23876310A= | CA2290312325 | LAMA3 | c.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= | |
18 | g.23876310A>C | CA402044884 | LAMA3 | c.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 | |
18 | g.23876310A>G | CA402044882 | LAMA3 | c.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 |
18 | g.23876310A>T | CA402044883 | LAMA3 | c.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 | |
18 | g.23876311C>A | CA402044885 | LAMA3 | c.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 |
18 | g.23876311C= | CA2290312326 | LAMA3 | c.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= | |
18 | g.23876311C>G | CA402044886 | LAMA3 | c.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 | |
18 | g.23876311C>T | CA503327818 | LAMA3 | c.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 |
18 | g.23876312T>A | CA402044887 | LAMA3 | c.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 | |
18 | g.23876312T>C | CA402044888 | LAMA3 | c.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 |
18 | g.23876312T>G | CA402044889 | LAMA3 | c.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 | |
18 | g.23876312T= | CA2290312327 | LAMA3 | c.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= | |
18 | g.23876313A= | CA2290312328 | LAMA3 | c.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= | |
18 | g.23876313A>C | CA402044890 | LAMA3 | c.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 | |
18 | g.23876313A>G | CA8915864 | LAMA3 | c.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 |