| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23876295_23876298del | CA2573054632 | LAMA3 | c.173_176del (p.Gly58ValfsTer?) c.5000_5003del (p.Gly1667ValfsTer?) c.1892_1895del (p.Gly631ValfsTer?) c.5027_5030del (p.Gly1676ValfsTer?) c.5018_5021del (p.Gly1673ValfsTer?) c.5009_5012del (p.Gly1670ValfsTer?) c.4895_4898del (p.Gly1632ValfsTer?) c.2879_2882del (p.Gly960ValfsTer?) c.569_572del (p.Gly190ValfsTer?) n.5268_5271del | ClinVar dbSNP |
| 18 | g.23876295G>A | CA402044851 | LAMA3 | c.173G>A (p.Gly58Asp) c.5000G>A (p.Gly1667Asp) c.1892G>A (p.Gly631Asp) c.5027G>A (p.Gly1676Asp) c.5018G>A (p.Gly1673Asp) c.5009G>A (p.Gly1670Asp) c.4895G>A (p.Gly1632Asp) c.2879G>A (p.Gly960Asp) c.569G>A (p.Gly190Asp) n.5268G>A | gnomAD v4 |
| 18 | g.23876295G>C | CA402044852 | LAMA3 | c.173G>C (p.Gly58Ala) c.5000G>C (p.Gly1667Ala) c.1892G>C (p.Gly631Ala) c.5027G>C (p.Gly1676Ala) c.5018G>C (p.Gly1673Ala) c.5009G>C (p.Gly1670Ala) c.4895G>C (p.Gly1632Ala) c.2879G>C (p.Gly960Ala) c.569G>C (p.Gly190Ala) n.5268G>C | |
| 18 | g.23876295G>T | CA402044853 | LAMA3 | c.173G>T (p.Gly58Val) c.5000G>T (p.Gly1667Val) c.1892G>T (p.Gly631Val) c.5027G>T (p.Gly1676Val) c.5018G>T (p.Gly1673Val) c.5009G>T (p.Gly1670Val) c.4895G>T (p.Gly1632Val) c.2879G>T (p.Gly960Val) c.569G>T (p.Gly190Val) n.5268G>T | |
| 18 | g.23876296T>A | CA503327794 | LAMA3 | c.174T>A (p.Gly58=) c.5001T>A (p.Gly1667=) c.1893T>A (p.Gly631=) c.5028T>A (p.Gly1676=) c.5019T>A (p.Gly1673=) c.5010T>A (p.Gly1670=) c.4896T>A (p.Gly1632=) c.2880T>A (p.Gly960=) c.570T>A (p.Gly190=) n.5269T>A | |
| 18 | g.23876296T>C | CA503327798 | LAMA3 | c.174T>C (p.Gly58=) c.5001T>C (p.Gly1667=) c.1893T>C (p.Gly631=) c.5028T>C (p.Gly1676=) c.5019T>C (p.Gly1673=) c.5010T>C (p.Gly1670=) c.4896T>C (p.Gly1632=) c.2880T>C (p.Gly960=) c.570T>C (p.Gly190=) n.5269T>C | |
| 18 | g.23876296T>G | CA503327795 | LAMA3 | c.174T>G (p.Gly58=) c.5001T>G (p.Gly1667=) c.1893T>G (p.Gly631=) c.5028T>G (p.Gly1676=) c.5019T>G (p.Gly1673=) c.5010T>G (p.Gly1670=) c.4896T>G (p.Gly1632=) c.2880T>G (p.Gly960=) c.570T>G (p.Gly190=) n.5269T>G | |
| 18 | g.23876297T>A | CA402044854 | LAMA3 | c.175T>A (p.Cys59Ser) c.5002T>A (p.Cys1668Ser) c.1894T>A (p.Cys632Ser) c.5029T>A (p.Cys1677Ser) c.5020T>A (p.Cys1674Ser) c.5011T>A (p.Cys1671Ser) c.4897T>A (p.Cys1633Ser) c.2881T>A (p.Cys961Ser) c.571T>A (p.Cys191Ser) n.5270T>A | |
| 18 | g.23876297T>C | CA402044855 | LAMA3 | c.175T>C (p.Cys59Arg) c.5002T>C (p.Cys1668Arg) c.1894T>C (p.Cys632Arg) c.5029T>C (p.Cys1677Arg) c.5020T>C (p.Cys1674Arg) c.5011T>C (p.Cys1671Arg) c.4897T>C (p.Cys1633Arg) c.2881T>C (p.Cys961Arg) c.571T>C (p.Cys191Arg) n.5270T>C | |
| 18 | g.23876297T>G | CA402044856 | LAMA3 | c.175T>G (p.Cys59Gly) c.5002T>G (p.Cys1668Gly) c.1894T>G (p.Cys632Gly) c.5029T>G (p.Cys1677Gly) c.5020T>G (p.Cys1674Gly) c.5011T>G (p.Cys1671Gly) c.4897T>G (p.Cys1633Gly) c.2881T>G (p.Cys961Gly) c.571T>G (p.Cys191Gly) n.5270T>G | |
| 18 | g.23876298G>A | CA402044859 | LAMA3 | c.176G>A (p.Cys59Tyr) c.5003G>A (p.Cys1668Tyr) c.1895G>A (p.Cys632Tyr) c.5030G>A (p.Cys1677Tyr) c.5021G>A (p.Cys1674Tyr) c.5012G>A (p.Cys1671Tyr) c.4898G>A (p.Cys1633Tyr) c.2882G>A (p.Cys961Tyr) c.572G>A (p.Cys191Tyr) n.5271G>A | |
| 18 | g.23876298G>C | CA402044857 | LAMA3 | c.176G>C (p.Cys59Ser) c.5003G>C (p.Cys1668Ser) c.1895G>C (p.Cys632Ser) c.5030G>C (p.Cys1677Ser) c.5021G>C (p.Cys1674Ser) c.5012G>C (p.Cys1671Ser) c.4898G>C (p.Cys1633Ser) c.2882G>C (p.Cys961Ser) c.572G>C (p.Cys191Ser) n.5271G>C | |
| 18 | g.23876298G>T | CA402044858 | LAMA3 | c.176G>T (p.Cys59Phe) c.5003G>T (p.Cys1668Phe) c.1895G>T (p.Cys632Phe) c.5030G>T (p.Cys1677Phe) c.5021G>T (p.Cys1674Phe) c.5012G>T (p.Cys1671Phe) c.4898G>T (p.Cys1633Phe) c.2882G>T (p.Cys961Phe) c.572G>T (p.Cys191Phe) n.5271G>T | |
| 18 | g.23876299T>A | CA402044860 | LAMA3 | c.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 | |
| 18 | g.23876299T>C | CA503327803 | LAMA3 | c.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 |
| 18 | g.23876299T>G | CA402044861 | LAMA3 | c.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 | |
| 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 |