Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.23903042G>ACA402048729LAMA3c.1408G>A (p.Asp470Asn)
c.6235G>A (p.Asp2079Asn)
c.3127G>A (p.Asp1043Asn)
c.6067G>A (p.Asp2023Asn)
c.1013G>A
c.1240G>A (p.Asp414Asn)
n.813G>A
c.6262G>A (p.Asp2088Asn)
c.6253G>A (p.Asp2085Asn)
c.6244G>A (p.Asp2082Asn)
c.6130G>A (p.Asp2044Asn)
c.4114G>A (p.Asp1372Asn)
c.1804G>A (p.Asp602Asn)
n.6503G>A
 dbSNP
18g.23903042G>CCA402048730LAMA3c.1408G>C (p.Asp470His)
c.6235G>C (p.Asp2079His)
c.3127G>C (p.Asp1043His)
c.6067G>C (p.Asp2023His)
c.1013G>C
c.1240G>C (p.Asp414His)
n.813G>C
c.6262G>C (p.Asp2088His)
c.6253G>C (p.Asp2085His)
c.6244G>C (p.Asp2082His)
c.6130G>C (p.Asp2044His)
c.4114G>C (p.Asp1372His)
c.1804G>C (p.Asp602His)
n.6503G>C
18g.23903042G=CA2290323939LAMA3c.1408G= (p.Asp470=)
c.6235G= (p.Asp2079=)
c.3127G= (p.Asp1043=)
c.6067G= (p.Asp2023=)
c.1013G=
c.1240G= (p.Asp414=)
n.813G=
c.6262G= (p.Asp2088=)
c.6253G= (p.Asp2085=)
c.6244G= (p.Asp2082=)
c.6130G= (p.Asp2044=)
c.4114G= (p.Asp1372=)
c.1804G= (p.Asp602=)
n.6503G=
18g.23903042G>TCA402048732LAMA3c.1408G>T (p.Asp470Tyr)
c.6235G>T (p.Asp2079Tyr)
c.3127G>T (p.Asp1043Tyr)
c.6067G>T (p.Asp2023Tyr)
c.1013G>T
c.1240G>T (p.Asp414Tyr)
n.813G>T
c.6262G>T (p.Asp2088Tyr)
c.6253G>T (p.Asp2085Tyr)
c.6244G>T (p.Asp2082Tyr)
c.6130G>T (p.Asp2044Tyr)
c.4114G>T (p.Asp1372Tyr)
c.1804G>T (p.Asp602Tyr)
n.6503G>T
18g.23903043A>CCA402048734LAMA3c.1409A>C (p.Asp470Ala)
c.6236A>C (p.Asp2079Ala)
c.3128A>C (p.Asp1043Ala)
c.6068A>C (p.Asp2023Ala)
c.1014A>C
c.1241A>C (p.Asp414Ala)
n.814A>C
c.6263A>C (p.Asp2088Ala)
c.6254A>C (p.Asp2085Ala)
c.6245A>C (p.Asp2082Ala)
c.6131A>C (p.Asp2044Ala)
c.4115A>C (p.Asp1372Ala)
c.1805A>C (p.Asp602Ala)
n.6504A>C
18g.23903043A>GCA402048738LAMA3c.1409A>G (p.Asp470Gly)
c.6236A>G (p.Asp2079Gly)
c.3128A>G (p.Asp1043Gly)
c.6068A>G (p.Asp2023Gly)
c.1014A>G
c.1241A>G (p.Asp414Gly)
n.814A>G
c.6263A>G (p.Asp2088Gly)
c.6254A>G (p.Asp2085Gly)
c.6245A>G (p.Asp2082Gly)
c.6131A>G (p.Asp2044Gly)
c.4115A>G (p.Asp1372Gly)
c.1805A>G (p.Asp602Gly)
n.6504A>G
18g.23903043A>TCA402048736LAMA3c.1409A>T (p.Asp470Val)
c.6236A>T (p.Asp2079Val)
c.3128A>T (p.Asp1043Val)
c.6068A>T (p.Asp2023Val)
c.1014A>T
c.1241A>T (p.Asp414Val)
n.814A>T
c.6263A>T (p.Asp2088Val)
c.6254A>T (p.Asp2085Val)
c.6245A>T (p.Asp2082Val)
c.6131A>T (p.Asp2044Val)
c.4115A>T (p.Asp1372Val)
c.1805A>T (p.Asp602Val)
n.6504A>T
18g.23903044T>ACA402048740LAMA3c.1410T>A (p.Asp470Glu)
c.6237T>A (p.Asp2079Glu)
c.3129T>A (p.Asp1043Glu)
c.6069T>A (p.Asp2023Glu)
c.1015T>A
c.1242T>A (p.Asp414Glu)
n.815T>A
c.6264T>A (p.Asp2088Glu)
c.6255T>A (p.Asp2085Glu)
c.6246T>A (p.Asp2082Glu)
c.6132T>A (p.Asp2044Glu)
c.4116T>A (p.Asp1372Glu)
c.1806T>A (p.Asp602Glu)
n.6505T>A
18g.23903044T>CCA503334727LAMA3c.1410T>C (p.Asp470=)
c.6237T>C (p.Asp2079=)
c.3129T>C (p.Asp1043=)
c.6069T>C (p.Asp2023=)
c.1015T>C
c.1242T>C (p.Asp414=)
n.815T>C
c.6264T>C (p.Asp2088=)
c.6255T>C (p.Asp2085=)
c.6246T>C (p.Asp2082=)
c.6132T>C (p.Asp2044=)
c.4116T>C (p.Asp1372=)
c.1806T>C (p.Asp602=)
n.6505T>C
18g.23903044T>GCA402048741LAMA3c.1410T>G (p.Asp470Glu)
c.6237T>G (p.Asp2079Glu)
c.3129T>G (p.Asp1043Glu)
c.6069T>G (p.Asp2023Glu)
c.1015T>G
c.1242T>G (p.Asp414Glu)
n.815T>G
c.6264T>G (p.Asp2088Glu)
c.6255T>G (p.Asp2085Glu)
c.6246T>G (p.Asp2082Glu)
c.6132T>G (p.Asp2044Glu)
c.4116T>G (p.Asp1372Glu)
c.1806T>G (p.Asp602Glu)
n.6505T>G
18g.23903045T>ACA402048743LAMA3c.1411T>A (p.Phe471Ile)
c.6238T>A (p.Phe2080Ile)
c.3130T>A (p.Phe1044Ile)
c.6070T>A (p.Phe2024Ile)
c.1016T>A
c.1243T>A (p.Phe415Ile)
n.816T>A
c.6265T>A (p.Phe2089Ile)
c.6256T>A (p.Phe2086Ile)
c.6247T>A (p.Phe2083Ile)
c.6133T>A (p.Phe2045Ile)
c.4117T>A (p.Phe1373Ile)
c.1807T>A (p.Phe603Ile)
n.6506T>A
18g.23903045T>CCA402048745LAMA3c.1411T>C (p.Phe471Leu)
c.6238T>C (p.Phe2080Leu)
c.3130T>C (p.Phe1044Leu)
c.6070T>C (p.Phe2024Leu)
c.1016T>C
c.1243T>C (p.Phe415Leu)
n.816T>C
c.6265T>C (p.Phe2089Leu)
c.6256T>C (p.Phe2086Leu)
c.6247T>C (p.Phe2083Leu)
c.6133T>C (p.Phe2045Leu)
c.4117T>C (p.Phe1373Leu)
c.1807T>C (p.Phe603Leu)
n.6506T>C
18g.23903045T>GCA402048746LAMA3c.1411T>G (p.Phe471Val)
c.6238T>G (p.Phe2080Val)
c.3130T>G (p.Phe1044Val)
c.6070T>G (p.Phe2024Val)
c.1016T>G
c.1243T>G (p.Phe415Val)
n.816T>G
c.6265T>G (p.Phe2089Val)
c.6256T>G (p.Phe2086Val)
c.6247T>G (p.Phe2083Val)
c.6133T>G (p.Phe2045Val)
c.4117T>G (p.Phe1373Val)
c.1807T>G (p.Phe603Val)
n.6506T>G
18g.23903046T>ACA402048748LAMA3c.1412T>A (p.Phe471Tyr)
c.6239T>A (p.Phe2080Tyr)
c.3131T>A (p.Phe1044Tyr)
c.6071T>A (p.Phe2024Tyr)
c.1017T>A
c.1244T>A (p.Phe415Tyr)
n.817T>A
c.6266T>A (p.Phe2089Tyr)
c.6257T>A (p.Phe2086Tyr)
c.6248T>A (p.Phe2083Tyr)
c.6134T>A (p.Phe2045Tyr)
c.4118T>A (p.Phe1373Tyr)
c.1808T>A (p.Phe603Tyr)
n.6507T>A
18g.23903046T>CCA8916315LAMA3c.1412T>C (p.Phe471Ser)
c.6239T>C (p.Phe2080Ser)
c.3131T>C (p.Phe1044Ser)
c.6071T>C (p.Phe2024Ser)
c.1017T>C
c.1244T>C (p.Phe415Ser)
n.817T>C
c.6266T>C (p.Phe2089Ser)
c.6257T>C (p.Phe2086Ser)
c.6248T>C (p.Phe2083Ser)
c.6134T>C (p.Phe2045Ser)
c.4118T>C (p.Phe1373Ser)
c.1808T>C (p.Phe603Ser)
n.6507T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23903046T>GCA402048751LAMA3c.1412T>G (p.Phe471Cys)
c.6239T>G (p.Phe2080Cys)
c.3131T>G (p.Phe1044Cys)
c.6071T>G (p.Phe2024Cys)
c.1017T>G
c.1244T>G (p.Phe415Cys)
n.817T>G
c.6266T>G (p.Phe2089Cys)
c.6257T>G (p.Phe2086Cys)
c.6248T>G (p.Phe2083Cys)
c.6134T>G (p.Phe2045Cys)
c.4118T>G (p.Phe1373Cys)
c.1808T>G (p.Phe603Cys)
n.6507T>G
18g.23903046T=CA2290323942LAMA3c.1412T= (p.Phe471=)
c.6239T= (p.Phe2080=)
c.3131T= (p.Phe1044=)
c.6071T= (p.Phe2024=)
c.1017T=
c.1244T= (p.Phe415=)
n.817T=
c.6266T= (p.Phe2089=)
c.6257T= (p.Phe2086=)
c.6248T= (p.Phe2083=)
c.6134T= (p.Phe2045=)
c.4118T= (p.Phe1373=)
c.1808T= (p.Phe603=)
n.6507T=
18g.23903047C>ACA402048753LAMA3c.1413C>A (p.Phe471Leu)
c.6240C>A (p.Phe2080Leu)
c.3132C>A (p.Phe1044Leu)
c.6072C>A (p.Phe2024Leu)
c.1018C>A
c.1245C>A (p.Phe415Leu)
n.818C>A
c.6267C>A (p.Phe2089Leu)
c.6258C>A (p.Phe2086Leu)
c.6249C>A (p.Phe2083Leu)
c.6135C>A (p.Phe2045Leu)
c.4119C>A (p.Phe1373Leu)
c.1809C>A (p.Phe603Leu)
n.6508C>A
18g.23903047C>GCA402048754LAMA3c.1413C>G (p.Phe471Leu)
c.6240C>G (p.Phe2080Leu)
c.3132C>G (p.Phe1044Leu)
c.6072C>G (p.Phe2024Leu)
c.1018C>G
c.1245C>G (p.Phe415Leu)
n.818C>G
c.6267C>G (p.Phe2089Leu)
c.6258C>G (p.Phe2086Leu)
c.6249C>G (p.Phe2083Leu)
c.6135C>G (p.Phe2045Leu)
c.4119C>G (p.Phe1373Leu)
c.1809C>G (p.Phe603Leu)
n.6508C>G
18g.23903047C>TCA503334736LAMA3c.1413C>T (p.Phe471=)
c.6240C>T (p.Phe2080=)
c.3132C>T (p.Phe1044=)
c.6072C>T (p.Phe2024=)
c.1018C>T
c.1245C>T (p.Phe415=)
n.818C>T
c.6267C>T (p.Phe2089=)
c.6258C>T (p.Phe2086=)
c.6249C>T (p.Phe2083=)
c.6135C>T (p.Phe2045=)
c.4119C>T (p.Phe1373=)
c.1809C>T (p.Phe603=)
n.6508C>T
18g.23903048A>CCA402048761LAMA3c.1414A>C (p.Thr472Pro)
c.6241A>C (p.Thr2081Pro)
c.3133A>C (p.Thr1045Pro)
c.6073A>C (p.Thr2025Pro)
c.1019A>C
c.1246A>C (p.Thr416Pro)
n.819A>C
c.6268A>C (p.Thr2090Pro)
c.6259A>C (p.Thr2087Pro)
c.6250A>C (p.Thr2084Pro)
c.6136A>C (p.Thr2046Pro)
c.4120A>C (p.Thr1374Pro)
c.1810A>C (p.Thr604Pro)
n.6509A>C
18g.23903048A>GCA402048759LAMA3c.1414A>G (p.Thr472Ala)
c.6241A>G (p.Thr2081Ala)
c.3133A>G (p.Thr1045Ala)
c.6073A>G (p.Thr2025Ala)
c.1019A>G
c.1246A>G (p.Thr416Ala)
n.819A>G
c.6268A>G (p.Thr2090Ala)
c.6259A>G (p.Thr2087Ala)
c.6250A>G (p.Thr2084Ala)
c.6136A>G (p.Thr2046Ala)
c.4120A>G (p.Thr1374Ala)
c.1810A>G (p.Thr604Ala)
n.6509A>G
18g.23903048A>TCA402048757LAMA3c.1414A>T (p.Thr472Ser)
c.6241A>T (p.Thr2081Ser)
c.3133A>T (p.Thr1045Ser)
c.6073A>T (p.Thr2025Ser)
c.1019A>T
c.1246A>T (p.Thr416Ser)
n.819A>T
c.6268A>T (p.Thr2090Ser)
c.6259A>T (p.Thr2087Ser)
c.6250A>T (p.Thr2084Ser)
c.6136A>T (p.Thr2046Ser)
c.4120A>T (p.Thr1374Ser)
c.1810A>T (p.Thr604Ser)
n.6509A>T
18g.23903049C>ACA402048767LAMA3c.1415C>A (p.Thr472Asn)
c.6242C>A (p.Thr2081Asn)
c.3134C>A (p.Thr1045Asn)
c.6074C>A (p.Thr2025Asn)
c.1020C>A
c.1247C>A (p.Thr416Asn)
n.820C>A
c.6269C>A (p.Thr2090Asn)
c.6260C>A (p.Thr2087Asn)
c.6251C>A (p.Thr2084Asn)
c.6137C>A (p.Thr2046Asn)
c.4121C>A (p.Thr1374Asn)
c.1811C>A (p.Thr604Asn)
n.6510C>A
 gnomAD v4
18g.23903049C>GCA402048763LAMA3c.1415C>G (p.Thr472Ser)
c.6242C>G (p.Thr2081Ser)
c.3134C>G (p.Thr1045Ser)
c.6074C>G (p.Thr2025Ser)
c.1020C>G
c.1247C>G (p.Thr416Ser)
n.820C>G
c.6269C>G (p.Thr2090Ser)
c.6260C>G (p.Thr2087Ser)
c.6251C>G (p.Thr2084Ser)
c.6137C>G (p.Thr2046Ser)
c.4121C>G (p.Thr1374Ser)
c.1811C>G (p.Thr604Ser)
n.6510C>G
18g.23903049C>TCA402048765LAMA3c.1415C>T (p.Thr472Ile)
c.6242C>T (p.Thr2081Ile)
c.3134C>T (p.Thr1045Ile)
c.6074C>T (p.Thr2025Ile)
c.1020C>T
c.1247C>T (p.Thr416Ile)
n.820C>T
c.6269C>T (p.Thr2090Ile)
c.6260C>T (p.Thr2087Ile)
c.6251C>T (p.Thr2084Ile)
c.6137C>T (p.Thr2046Ile)
c.4121C>T (p.Thr1374Ile)
c.1811C>T (p.Thr604Ile)
n.6510C>T
 gnomAD v4
18g.23903050C>ACA503334742LAMA3c.1416C>A (p.Thr472=)
c.6243C>A (p.Thr2081=)
c.3135C>A (p.Thr1045=)
c.6075C>A (p.Thr2025=)
c.1021C>A
c.1248C>A (p.Thr416=)
n.821C>A
c.6270C>A (p.Thr2090=)
c.6261C>A (p.Thr2087=)
c.6252C>A (p.Thr2084=)
c.6138C>A (p.Thr2046=)
c.4122C>A (p.Thr1374=)
c.1812C>A (p.Thr604=)
n.6511C>A
 gnomAD v4
18g.23903050C>GCA503334743LAMA3c.1416C>G (p.Thr472=)
c.6243C>G (p.Thr2081=)
c.3135C>G (p.Thr1045=)
c.6075C>G (p.Thr2025=)
c.1021C>G
c.1248C>G (p.Thr416=)
n.821C>G
c.6270C>G (p.Thr2090=)
c.6261C>G (p.Thr2087=)
c.6252C>G (p.Thr2084=)
c.6138C>G (p.Thr2046=)
c.4122C>G (p.Thr1374=)
c.1812C>G (p.Thr604=)
n.6511C>G
18g.23903050C>TCA503334745LAMA3c.1416C>T (p.Thr472=)
c.6243C>T (p.Thr2081=)
c.3135C>T (p.Thr1045=)
c.6075C>T (p.Thr2025=)
c.1021C>T
c.1248C>T (p.Thr416=)
n.821C>T
c.6270C>T (p.Thr2090=)
c.6261C>T (p.Thr2087=)
c.6252C>T (p.Thr2084=)
c.6138C>T (p.Thr2046=)
c.4122C>T (p.Thr1374=)
c.1812C>T (p.Thr604=)
n.6511C>T
18g.23903051A>CCA402048769LAMA3c.1417A>C (p.Lys473Gln)
c.6244A>C (p.Lys2082Gln)
c.3136A>C (p.Lys1046Gln)
c.6076A>C (p.Lys2026Gln)
c.1022A>C
c.1249A>C (p.Lys417Gln)
n.822A>C
c.6271A>C (p.Lys2091Gln)
c.6262A>C (p.Lys2088Gln)
c.6253A>C (p.Lys2085Gln)
c.6139A>C (p.Lys2047Gln)
c.4123A>C (p.Lys1375Gln)
c.1813A>C (p.Lys605Gln)
n.6512A>C
18g.23903051A>GCA402048771LAMA3c.1417A>G (p.Lys473Glu)
c.6244A>G (p.Lys2082Glu)
c.3136A>G (p.Lys1046Glu)
c.6076A>G (p.Lys2026Glu)
c.1022A>G
c.1249A>G (p.Lys417Glu)
n.822A>G
c.6271A>G (p.Lys2091Glu)
c.6262A>G (p.Lys2088Glu)
c.6253A>G (p.Lys2085Glu)
c.6139A>G (p.Lys2047Glu)
c.4123A>G (p.Lys1375Glu)
c.1813A>G (p.Lys605Glu)
n.6512A>G
18g.23903051A>TCA402048772LAMA3c.1417A>T (p.Lys473Ter)
c.6244A>T (p.Lys2082Ter)
c.3136A>T (p.Lys1046Ter)
c.6076A>T (p.Lys2026Ter)
c.1022A>T
c.1249A>T (p.Lys417Ter)
n.822A>T
c.6271A>T (p.Lys2091Ter)
c.6262A>T (p.Lys2088Ter)
c.6253A>T (p.Lys2085Ter)
c.6139A>T (p.Lys2047Ter)
c.4123A>T (p.Lys1375Ter)
c.1813A>T (p.Lys605Ter)
n.6512A>T
 ClinVar
18g.23903052A>CCA402048774LAMA3c.1418A>C (p.Lys473Thr)
c.6245A>C (p.Lys2082Thr)
c.3137A>C (p.Lys1046Thr)
c.6077A>C (p.Lys2026Thr)
c.1023A>C
c.1250A>C (p.Lys417Thr)
n.823A>C
c.6272A>C (p.Lys2091Thr)
c.6263A>C (p.Lys2088Thr)
c.6254A>C (p.Lys2085Thr)
c.6140A>C (p.Lys2047Thr)
c.4124A>C (p.Lys1375Thr)
c.1814A>C (p.Lys605Thr)
n.6513A>C
18g.23903052A>GCA402048776LAMA3c.1418A>G (p.Lys473Arg)
c.6245A>G (p.Lys2082Arg)
c.3137A>G (p.Lys1046Arg)
c.6077A>G (p.Lys2026Arg)
c.1023A>G
c.1250A>G (p.Lys417Arg)
n.823A>G
c.6272A>G (p.Lys2091Arg)
c.6263A>G (p.Lys2088Arg)
c.6254A>G (p.Lys2085Arg)
c.6140A>G (p.Lys2047Arg)
c.4124A>G (p.Lys1375Arg)
c.1814A>G (p.Lys605Arg)
n.6513A>G
 gnomAD v4
18g.23903052A>TCA402048778LAMA3c.1418A>T (p.Lys473Met)
c.6245A>T (p.Lys2082Met)
c.3137A>T (p.Lys1046Met)
c.6077A>T (p.Lys2026Met)
c.1023A>T
c.1250A>T (p.Lys417Met)
n.823A>T
c.6272A>T (p.Lys2091Met)
c.6263A>T (p.Lys2088Met)
c.6254A>T (p.Lys2085Met)
c.6140A>T (p.Lys2047Met)
c.4124A>T (p.Lys1375Met)
c.1814A>T (p.Lys605Met)
n.6513A>T
18g.23903053G>ACA503334751LAMA3c.1419G>A (p.Lys473=)
c.6246G>A (p.Lys2082=)
c.3138G>A (p.Lys1046=)
c.6078G>A (p.Lys2026=)
c.1024G>A
c.1251G>A (p.Lys417=)
n.824G>A
c.6273G>A (p.Lys2091=)
c.6264G>A (p.Lys2088=)
c.6255G>A (p.Lys2085=)
c.6141G>A (p.Lys2047=)
c.4125G>A (p.Lys1375=)
c.1815G>A (p.Lys605=)
n.6514G>A
 gnomAD v4
18g.23903053G>CCA402048780LAMA3c.1419G>C (p.Lys473Asn)
c.6246G>C (p.Lys2082Asn)
c.3138G>C (p.Lys1046Asn)
c.6078G>C (p.Lys2026Asn)
c.1024G>C
c.1251G>C (p.Lys417Asn)
n.824G>C
c.6273G>C (p.Lys2091Asn)
c.6264G>C (p.Lys2088Asn)
c.6255G>C (p.Lys2085Asn)
c.6141G>C (p.Lys2047Asn)
c.4125G>C (p.Lys1375Asn)
c.1815G>C (p.Lys605Asn)
n.6514G>C
18g.23903053G>TCA402048781LAMA3c.1419G>T (p.Lys473Asn)
c.6246G>T (p.Lys2082Asn)
c.3138G>T (p.Lys1046Asn)
c.6078G>T (p.Lys2026Asn)
c.1024G>T
c.1251G>T (p.Lys417Asn)
n.824G>T
c.6273G>T (p.Lys2091Asn)
c.6264G>T (p.Lys2088Asn)
c.6255G>T (p.Lys2085Asn)
c.6141G>T (p.Lys2047Asn)
c.4125G>T (p.Lys1375Asn)
c.1815G>T (p.Lys605Asn)
n.6514G>T
18g.23903054T>ACA402048784LAMA3c.1420T>A (p.Tyr474Asn)
c.6247T>A (p.Tyr2083Asn)
c.3139T>A (p.Tyr1047Asn)
c.6079T>A (p.Tyr2027Asn)
c.1025T>A
c.1252T>A (p.Tyr418Asn)
n.825T>A
c.6274T>A (p.Tyr2092Asn)
c.6265T>A (p.Tyr2089Asn)
c.6256T>A (p.Tyr2086Asn)
c.6142T>A (p.Tyr2048Asn)
c.4126T>A (p.Tyr1376Asn)
c.1816T>A (p.Tyr606Asn)
n.6515T>A
18g.23903054T>CCA402048785LAMA3c.1420T>C (p.Tyr474His)
c.6247T>C (p.Tyr2083His)
c.3139T>C (p.Tyr1047His)
c.6079T>C (p.Tyr2027His)
c.1025T>C
c.1252T>C (p.Tyr418His)
n.825T>C
c.6274T>C (p.Tyr2092His)
c.6265T>C (p.Tyr2089His)
c.6256T>C (p.Tyr2086His)
c.6142T>C (p.Tyr2048His)
c.4126T>C (p.Tyr1376His)
c.1816T>C (p.Tyr606His)
n.6515T>C
18g.23903054T>GCA402048787LAMA3c.1420T>G (p.Tyr474Asp)
c.6247T>G (p.Tyr2083Asp)
c.3139T>G (p.Tyr1047Asp)
c.6079T>G (p.Tyr2027Asp)
c.1025T>G
c.1252T>G (p.Tyr418Asp)
n.825T>G
c.6274T>G (p.Tyr2092Asp)
c.6265T>G (p.Tyr2089Asp)
c.6256T>G (p.Tyr2086Asp)
c.6142T>G (p.Tyr2048Asp)
c.4126T>G (p.Tyr1376Asp)
c.1816T>G (p.Tyr606Asp)
n.6515T>G
18g.23903055A=CA2290323945LAMA3c.1421A= (p.Tyr474=)
c.6248A= (p.Tyr2083=)
c.3140A= (p.Tyr1047=)
c.6080A= (p.Tyr2027=)
c.1026A=
c.1253A= (p.Tyr418=)
n.826A=
c.6275A= (p.Tyr2092=)
c.6266A= (p.Tyr2089=)
c.6257A= (p.Tyr2086=)
c.6143A= (p.Tyr2048=)
c.4127A= (p.Tyr1376=)
c.1817A= (p.Tyr606=)
n.6516A=
18g.23903055A>CCA402048792LAMA3c.1421A>C (p.Tyr474Ser)
c.6248A>C (p.Tyr2083Ser)
c.3140A>C (p.Tyr1047Ser)
c.6080A>C (p.Tyr2027Ser)
c.1026A>C
c.1253A>C (p.Tyr418Ser)
n.826A>C
c.6275A>C (p.Tyr2092Ser)
c.6266A>C (p.Tyr2089Ser)
c.6257A>C (p.Tyr2086Ser)
c.6143A>C (p.Tyr2048Ser)
c.4127A>C (p.Tyr1376Ser)
c.1817A>C (p.Tyr606Ser)
n.6516A>C
18g.23903055A>GCA402048789LAMA3c.1421A>G (p.Tyr474Cys)
c.6248A>G (p.Tyr2083Cys)
c.3140A>G (p.Tyr1047Cys)
c.6080A>G (p.Tyr2027Cys)
c.1026A>G
c.1253A>G (p.Tyr418Cys)
n.826A>G
c.6275A>G (p.Tyr2092Cys)
c.6266A>G (p.Tyr2089Cys)
c.6257A>G (p.Tyr2086Cys)
c.6143A>G (p.Tyr2048Cys)
c.4127A>G (p.Tyr1376Cys)
c.1817A>G (p.Tyr606Cys)
n.6516A>G
 dbSNP gnomAD v2 gnomAD v4
18g.23903055A>TCA8916316LAMA3c.1421A>T (p.Tyr474Phe)
c.6248A>T (p.Tyr2083Phe)
c.3140A>T (p.Tyr1047Phe)
c.6080A>T (p.Tyr2027Phe)
c.1026A>T
c.1253A>T (p.Tyr418Phe)
n.826A>T
c.6275A>T (p.Tyr2092Phe)
c.6266A>T (p.Tyr2089Phe)
c.6257A>T (p.Tyr2086Phe)
c.6143A>T (p.Tyr2048Phe)
c.4127A>T (p.Tyr1376Phe)
c.1817A>T (p.Tyr606Phe)
n.6516A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23903056T>ACA402048794LAMA3c.1422T>A (p.Tyr474Ter)
c.6249T>A (p.Tyr2083Ter)
c.3141T>A (p.Tyr1047Ter)
c.6081T>A (p.Tyr2027Ter)
c.1027T>A
c.1254T>A (p.Tyr418Ter)
n.827T>A
c.6276T>A (p.Tyr2092Ter)
c.6267T>A (p.Tyr2089Ter)
c.6258T>A (p.Tyr2086Ter)
c.6144T>A (p.Tyr2048Ter)
c.4128T>A (p.Tyr1376Ter)
c.1818T>A (p.Tyr606Ter)
n.6517T>A
18g.23903056T>CCA503334759LAMA3c.1422T>C (p.Tyr474=)
c.6249T>C (p.Tyr2083=)
c.3141T>C (p.Tyr1047=)
c.6081T>C (p.Tyr2027=)
c.1027T>C
c.1254T>C (p.Tyr418=)
n.827T>C
c.6276T>C (p.Tyr2092=)
c.6267T>C (p.Tyr2089=)
c.6258T>C (p.Tyr2086=)
c.6144T>C (p.Tyr2048=)
c.4128T>C (p.Tyr1376=)
c.1818T>C (p.Tyr606=)
n.6517T>C
18g.23903056T>GCA402048795LAMA3c.1422T>G (p.Tyr474Ter)
c.6249T>G (p.Tyr2083Ter)
c.3141T>G (p.Tyr1047Ter)
c.6081T>G (p.Tyr2027Ter)
c.1027T>G
c.1254T>G (p.Tyr418Ter)
n.827T>G
c.6276T>G (p.Tyr2092Ter)
c.6267T>G (p.Tyr2089Ter)
c.6258T>G (p.Tyr2086Ter)
c.6144T>G (p.Tyr2048Ter)
c.4128T>G (p.Tyr1376Ter)
c.1818T>G (p.Tyr606Ter)
n.6517T>G
18g.23903057C>ACA402048797LAMA3c.1423C>A (p.Leu475Ile)
c.6250C>A (p.Leu2084Ile)
c.3142C>A (p.Leu1048Ile)
c.6082C>A (p.Leu2028Ile)
c.1028C>A
c.1255C>A (p.Leu419Ile)
n.828C>A
c.6277C>A (p.Leu2093Ile)
c.6268C>A (p.Leu2090Ile)
c.6259C>A (p.Leu2087Ile)
c.6145C>A (p.Leu2049Ile)
c.4129C>A (p.Leu1377Ile)
c.1819C>A (p.Leu607Ile)
n.6518C>A
18g.23903057C>GCA402048798LAMA3c.1423C>G (p.Leu475Val)
c.6250C>G (p.Leu2084Val)
c.3142C>G (p.Leu1048Val)
c.6082C>G (p.Leu2028Val)
c.1028C>G
c.1255C>G (p.Leu419Val)
n.828C>G
c.6277C>G (p.Leu2093Val)
c.6268C>G (p.Leu2090Val)
c.6259C>G (p.Leu2087Val)
c.6145C>G (p.Leu2049Val)
c.4129C>G (p.Leu1377Val)
c.1819C>G (p.Leu607Val)
n.6518C>G
 gnomAD v4

Number of alleles fetched