Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.23903010G>ACA402048614LAMA3c.1376G>A (p.Arg459Lys)
c.6203G>A (p.Arg2068Lys)
c.3095G>A (p.Arg1032Lys)
c.6035G>A (p.Arg2012Lys)
c.981G>A
c.1208G>A (p.Arg403Lys)
n.781G>A
c.6230G>A (p.Arg2077Lys)
c.6221G>A (p.Arg2074Lys)
c.6212G>A (p.Arg2071Lys)
c.6098G>A (p.Arg2033Lys)
c.4082G>A (p.Arg1361Lys)
c.1772G>A (p.Arg591Lys)
n.6471G>A
 gnomAD v4
18g.23903010G>CCA402048612LAMA3c.1376G>C (p.Arg459Thr)
c.6203G>C (p.Arg2068Thr)
c.3095G>C (p.Arg1032Thr)
c.6035G>C (p.Arg2012Thr)
c.981G>C
c.1208G>C (p.Arg403Thr)
n.781G>C
c.6230G>C (p.Arg2077Thr)
c.6221G>C (p.Arg2074Thr)
c.6212G>C (p.Arg2071Thr)
c.6098G>C (p.Arg2033Thr)
c.4082G>C (p.Arg1361Thr)
c.1772G>C (p.Arg591Thr)
n.6471G>C
18g.23903010G>TCA402048609LAMA3c.1376G>T (p.Arg459Ile)
c.6203G>T (p.Arg2068Ile)
c.3095G>T (p.Arg1032Ile)
c.6035G>T (p.Arg2012Ile)
c.981G>T
c.1208G>T (p.Arg403Ile)
n.781G>T
c.6230G>T (p.Arg2077Ile)
c.6221G>T (p.Arg2074Ile)
c.6212G>T (p.Arg2071Ile)
c.6098G>T (p.Arg2033Ile)
c.4082G>T (p.Arg1361Ile)
c.1772G>T (p.Arg591Ile)
n.6471G>T
18g.23903011A=CA2290323883LAMA3c.1377A= (p.Arg459=)
c.6204A= (p.Arg2068=)
c.3096A= (p.Arg1032=)
c.6036A= (p.Arg2012=)
c.982A=
c.1209A= (p.Arg403=)
n.782A=
c.6231A= (p.Arg2077=)
c.6222A= (p.Arg2074=)
c.6213A= (p.Arg2071=)
c.6099A= (p.Arg2033=)
c.4083A= (p.Arg1361=)
c.1773A= (p.Arg591=)
n.6472A=
18g.23903011A>CCA402048616LAMA3c.1377A>C (p.Arg459Ser)
c.6204A>C (p.Arg2068Ser)
c.3096A>C (p.Arg1032Ser)
c.6036A>C (p.Arg2012Ser)
c.982A>C
c.1209A>C (p.Arg403Ser)
n.782A>C
c.6231A>C (p.Arg2077Ser)
c.6222A>C (p.Arg2074Ser)
c.6213A>C (p.Arg2071Ser)
c.6099A>C (p.Arg2033Ser)
c.4083A>C (p.Arg1361Ser)
c.1773A>C (p.Arg591Ser)
n.6472A>C
18g.23903011A>GCA503334585LAMA3c.1377A>G (p.Arg459=)
c.6204A>G (p.Arg2068=)
c.3096A>G (p.Arg1032=)
c.6036A>G (p.Arg2012=)
c.982A>G
c.1209A>G (p.Arg403=)
n.782A>G
c.6231A>G (p.Arg2077=)
c.6222A>G (p.Arg2074=)
c.6213A>G (p.Arg2071=)
c.6099A>G (p.Arg2033=)
c.4083A>G (p.Arg1361=)
c.1773A>G (p.Arg591=)
n.6472A>G
 gnomAD v4
18g.23903011A>TCA402048618LAMA3c.1377A>T (p.Arg459Ser)
c.6204A>T (p.Arg2068Ser)
c.3096A>T (p.Arg1032Ser)
c.6036A>T (p.Arg2012Ser)
c.982A>T
c.1209A>T (p.Arg403Ser)
n.782A>T
c.6231A>T (p.Arg2077Ser)
c.6222A>T (p.Arg2074Ser)
c.6213A>T (p.Arg2071Ser)
c.6099A>T (p.Arg2033Ser)
c.4083A>T (p.Arg1361Ser)
c.1773A>T (p.Arg591Ser)
n.6472A>T
 dbSNP gnomAD v2 gnomAD v4
18g.23903012C>ACA402048621LAMA3c.1378C>A (p.Gln460Lys)
c.6205C>A (p.Gln2069Lys)
c.3097C>A (p.Gln1033Lys)
c.6037C>A (p.Gln2013Lys)
c.983C>A
c.1210C>A (p.Gln404Lys)
n.783C>A
c.6232C>A (p.Gln2078Lys)
c.6223C>A (p.Gln2075Lys)
c.6214C>A (p.Gln2072Lys)
c.6100C>A (p.Gln2034Lys)
c.4084C>A (p.Gln1362Lys)
c.1774C>A (p.Gln592Lys)
n.6473C>A
 gnomAD v4
18g.23903012C>GCA402048623LAMA3c.1378C>G (p.Gln460Glu)
c.6205C>G (p.Gln2069Glu)
c.3097C>G (p.Gln1033Glu)
c.6037C>G (p.Gln2013Glu)
c.983C>G
c.1210C>G (p.Gln404Glu)
n.783C>G
c.6232C>G (p.Gln2078Glu)
c.6223C>G (p.Gln2075Glu)
c.6214C>G (p.Gln2072Glu)
c.6100C>G (p.Gln2034Glu)
c.4084C>G (p.Gln1362Glu)
c.1774C>G (p.Gln592Glu)
n.6473C>G
18g.23903012C>TCA402048625LAMA3c.1378C>T (p.Gln460Ter)
c.6205C>T (p.Gln2069Ter)
c.3097C>T (p.Gln1033Ter)
c.6037C>T (p.Gln2013Ter)
c.983C>T
c.1210C>T (p.Gln404Ter)
n.783C>T
c.6232C>T (p.Gln2078Ter)
c.6223C>T (p.Gln2075Ter)
c.6214C>T (p.Gln2072Ter)
c.6100C>T (p.Gln2034Ter)
c.4084C>T (p.Gln1362Ter)
c.1774C>T (p.Gln592Ter)
n.6473C>T
18g.23903013A=CA2290323888LAMA3c.1379A= (p.Gln460=)
c.6206A= (p.Gln2069=)
c.3098A= (p.Gln1033=)
c.6038A= (p.Gln2013=)
c.984A=
c.1211A= (p.Gln404=)
n.784A=
c.6233A= (p.Gln2078=)
c.6224A= (p.Gln2075=)
c.6215A= (p.Gln2072=)
c.6101A= (p.Gln2034=)
c.4085A= (p.Gln1362=)
c.1775A= (p.Gln592=)
n.6474A=
18g.23903013A>CCA402048628LAMA3c.1379A>C (p.Gln460Pro)
c.6206A>C (p.Gln2069Pro)
c.3098A>C (p.Gln1033Pro)
c.6038A>C (p.Gln2013Pro)
c.984A>C
c.1211A>C (p.Gln404Pro)
n.784A>C
c.6233A>C (p.Gln2078Pro)
c.6224A>C (p.Gln2075Pro)
c.6215A>C (p.Gln2072Pro)
c.6101A>C (p.Gln2034Pro)
c.4085A>C (p.Gln1362Pro)
c.1775A>C (p.Gln592Pro)
n.6474A>C
18g.23903013A>GCA8916310LAMA3c.1379A>G (p.Gln460Arg)
c.6206A>G (p.Gln2069Arg)
c.3098A>G (p.Gln1033Arg)
c.6038A>G (p.Gln2013Arg)
c.984A>G
c.1211A>G (p.Gln404Arg)
n.784A>G
c.6233A>G (p.Gln2078Arg)
c.6224A>G (p.Gln2075Arg)
c.6215A>G (p.Gln2072Arg)
c.6101A>G (p.Gln2034Arg)
c.4085A>G (p.Gln1362Arg)
c.1775A>G (p.Gln592Arg)
n.6474A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23903013A>TCA402048631LAMA3c.1379A>T (p.Gln460Leu)
c.6206A>T (p.Gln2069Leu)
c.3098A>T (p.Gln1033Leu)
c.6038A>T (p.Gln2013Leu)
c.984A>T
c.1211A>T (p.Gln404Leu)
n.784A>T
c.6233A>T (p.Gln2078Leu)
c.6224A>T (p.Gln2075Leu)
c.6215A>T (p.Gln2072Leu)
c.6101A>T (p.Gln2034Leu)
c.4085A>T (p.Gln1362Leu)
c.1775A>T (p.Gln592Leu)
n.6474A>T
18g.23903014A>CCA402048634LAMA3c.1380A>C (p.Gln460His)
c.6207A>C (p.Gln2069His)
c.3099A>C (p.Gln1033His)
c.6039A>C (p.Gln2013His)
c.985A>C
c.1212A>C (p.Gln404His)
n.785A>C
c.6234A>C (p.Gln2078His)
c.6225A>C (p.Gln2075His)
c.6216A>C (p.Gln2072His)
c.6102A>C (p.Gln2034His)
c.4086A>C (p.Gln1362His)
c.1776A>C (p.Gln592His)
n.6475A>C
18g.23903014A>GCA503334605LAMA3c.1380A>G (p.Gln460=)
c.6207A>G (p.Gln2069=)
c.3099A>G (p.Gln1033=)
c.6039A>G (p.Gln2013=)
c.985A>G
c.1212A>G (p.Gln404=)
n.785A>G
c.6234A>G (p.Gln2078=)
c.6225A>G (p.Gln2075=)
c.6216A>G (p.Gln2072=)
c.6102A>G (p.Gln2034=)
c.4086A>G (p.Gln1362=)
c.1776A>G (p.Gln592=)
n.6475A>G
 dbSNP
18g.23903014A>TCA402048635LAMA3c.1380A>T (p.Gln460His)
c.6207A>T (p.Gln2069His)
c.3099A>T (p.Gln1033His)
c.6039A>T (p.Gln2013His)
c.985A>T
c.1212A>T (p.Gln404His)
n.785A>T
c.6234A>T (p.Gln2078His)
c.6225A>T (p.Gln2075His)
c.6216A>T (p.Gln2072His)
c.6102A>T (p.Gln2034His)
c.4086A>T (p.Gln1362His)
c.1776A>T (p.Gln592His)
n.6475A>T
18g.23903015G>ACA297097780LAMA3c.1381G>A (p.Val461Met)
c.6208G>A (p.Val2070Met)
c.3100G>A (p.Val1034Met)
c.6040G>A (p.Val2014Met)
c.986G>A
c.1213G>A (p.Val405Met)
n.786G>A
c.6235G>A (p.Val2079Met)
c.6226G>A (p.Val2076Met)
c.6217G>A (p.Val2073Met)
c.6103G>A (p.Val2035Met)
c.4087G>A (p.Val1363Met)
c.1777G>A (p.Val593Met)
n.6476G>A
 dbSNP gnomAD v4
18g.23903015G>CCA402048638LAMA3c.1381G>C (p.Val461Leu)
c.6208G>C (p.Val2070Leu)
c.3100G>C (p.Val1034Leu)
c.6040G>C (p.Val2014Leu)
c.986G>C
c.1213G>C (p.Val405Leu)
n.786G>C
c.6235G>C (p.Val2079Leu)
c.6226G>C (p.Val2076Leu)
c.6217G>C (p.Val2073Leu)
c.6103G>C (p.Val2035Leu)
c.4087G>C (p.Val1363Leu)
c.1777G>C (p.Val593Leu)
n.6476G>C
18g.23903015G=CA2290323893LAMA3c.1381G= (p.Val461=)
c.6208G= (p.Val2070=)
c.3100G= (p.Val1034=)
c.6040G= (p.Val2014=)
c.986G=
c.1213G= (p.Val405=)
n.786G=
c.6235G= (p.Val2079=)
c.6226G= (p.Val2076=)
c.6217G= (p.Val2073=)
c.6103G= (p.Val2035=)
c.4087G= (p.Val1363=)
c.1777G= (p.Val593=)
n.6476G=
18g.23903015G>TCA402048640LAMA3c.1381G>T (p.Val461Leu)
c.6208G>T (p.Val2070Leu)
c.3100G>T (p.Val1034Leu)
c.6040G>T (p.Val2014Leu)
c.986G>T
c.1213G>T (p.Val405Leu)
n.786G>T
c.6235G>T (p.Val2079Leu)
c.6226G>T (p.Val2076Leu)
c.6217G>T (p.Val2073Leu)
c.6103G>T (p.Val2035Leu)
c.4087G>T (p.Val1363Leu)
c.1777G>T (p.Val593Leu)
n.6476G>T
18g.23903016T>ACA402048648LAMA3c.1382T>A (p.Val461Glu)
c.6209T>A (p.Val2070Glu)
c.3101T>A (p.Val1034Glu)
c.6041T>A (p.Val2014Glu)
c.987T>A
c.1214T>A (p.Val405Glu)
n.787T>A
c.6236T>A (p.Val2079Glu)
c.6227T>A (p.Val2076Glu)
c.6218T>A (p.Val2073Glu)
c.6104T>A (p.Val2035Glu)
c.4088T>A (p.Val1363Glu)
c.1778T>A (p.Val593Glu)
n.6477T>A
18g.23903016T>CCA402048643LAMA3c.1382T>C (p.Val461Ala)
c.6209T>C (p.Val2070Ala)
c.3101T>C (p.Val1034Ala)
c.6041T>C (p.Val2014Ala)
c.987T>C
c.1214T>C (p.Val405Ala)
n.787T>C
c.6236T>C (p.Val2079Ala)
c.6227T>C (p.Val2076Ala)
c.6218T>C (p.Val2073Ala)
c.6104T>C (p.Val2035Ala)
c.4088T>C (p.Val1363Ala)
c.1778T>C (p.Val593Ala)
n.6477T>C
 dbSNP
18g.23903016T>GCA402048645LAMA3c.1382T>G (p.Val461Gly)
c.6209T>G (p.Val2070Gly)
c.3101T>G (p.Val1034Gly)
c.6041T>G (p.Val2014Gly)
c.987T>G
c.1214T>G (p.Val405Gly)
n.787T>G
c.6236T>G (p.Val2079Gly)
c.6227T>G (p.Val2076Gly)
c.6218T>G (p.Val2073Gly)
c.6104T>G (p.Val2035Gly)
c.4088T>G (p.Val1363Gly)
c.1778T>G (p.Val593Gly)
n.6477T>G
18g.23903016T=CA2290323897LAMA3c.1382T= (p.Val461=)
c.6209T= (p.Val2070=)
c.3101T= (p.Val1034=)
c.6041T= (p.Val2014=)
c.987T=
c.1214T= (p.Val405=)
n.787T=
c.6236T= (p.Val2079=)
c.6227T= (p.Val2076=)
c.6218T= (p.Val2073=)
c.6104T= (p.Val2035=)
c.4088T= (p.Val1363=)
c.1778T= (p.Val593=)
n.6477T=
18g.23903016dupCA8916311LAMA3c.1382dup (p.Lys462GlufsTer9)
c.6209dup (p.Lys2071GlufsTer9)
c.3101dup (p.Lys1035GlufsTer9)
c.6041dup (p.Lys2015GlufsTer9)
c.987dup
c.1214dup (p.Lys406GlufsTer9)
n.787dup
c.6236dup (p.Lys2080GlufsTer9)
c.6227dup (p.Lys2077GlufsTer9)
c.6218dup (p.Lys2074GlufsTer9)
c.6104dup (p.Lys2036GlufsTer9)
c.4088dup (p.Lys1364GlufsTer9)
c.1778dup (p.Lys594GlufsTer9)
n.6477dup
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23903017G>ACA503334621LAMA3c.1383G>A (p.Val461=)
c.6210G>A (p.Val2070=)
c.3102G>A (p.Val1034=)
c.6042G>A (p.Val2014=)
c.988G>A
c.1215G>A (p.Val405=)
n.788G>A
c.6237G>A (p.Val2079=)
c.6228G>A (p.Val2076=)
c.6219G>A (p.Val2073=)
c.6105G>A (p.Val2035=)
c.4089G>A (p.Val1363=)
c.1779G>A (p.Val593=)
n.6478G>A
 gnomAD v4
18g.23903017G>CCA503334618LAMA3c.1383G>C (p.Val461=)
c.6210G>C (p.Val2070=)
c.3102G>C (p.Val1034=)
c.6042G>C (p.Val2014=)
c.988G>C
c.1215G>C (p.Val405=)
n.788G>C
c.6237G>C (p.Val2079=)
c.6228G>C (p.Val2076=)
c.6219G>C (p.Val2073=)
c.6105G>C (p.Val2035=)
c.4089G>C (p.Val1363=)
c.1779G>C (p.Val593=)
n.6478G>C
18g.23903017G>TCA503334623LAMA3c.1383G>T (p.Val461=)
c.6210G>T (p.Val2070=)
c.3102G>T (p.Val1034=)
c.6042G>T (p.Val2014=)
c.988G>T
c.1215G>T (p.Val405=)
n.788G>T
c.6237G>T (p.Val2079=)
c.6228G>T (p.Val2076=)
c.6219G>T (p.Val2073=)
c.6105G>T (p.Val2035=)
c.4089G>T (p.Val1363=)
c.1779G>T (p.Val593=)
n.6478G>T
18g.23903018A>CCA402048651LAMA3c.1384A>C (p.Lys462Gln)
c.6211A>C (p.Lys2071Gln)
c.3103A>C (p.Lys1035Gln)
c.6043A>C (p.Lys2015Gln)
c.989A>C
c.1216A>C (p.Lys406Gln)
n.789A>C
c.6238A>C (p.Lys2080Gln)
c.6229A>C (p.Lys2077Gln)
c.6220A>C (p.Lys2074Gln)
c.6106A>C (p.Lys2036Gln)
c.4090A>C (p.Lys1364Gln)
c.1780A>C (p.Lys594Gln)
n.6479A>C
18g.23903018A>GCA402048653LAMA3c.1384A>G (p.Lys462Glu)
c.6211A>G (p.Lys2071Glu)
c.3103A>G (p.Lys1035Glu)
c.6043A>G (p.Lys2015Glu)
c.989A>G
c.1216A>G (p.Lys406Glu)
n.789A>G
c.6238A>G (p.Lys2080Glu)
c.6229A>G (p.Lys2077Glu)
c.6220A>G (p.Lys2074Glu)
c.6106A>G (p.Lys2036Glu)
c.4090A>G (p.Lys1364Glu)
c.1780A>G (p.Lys594Glu)
n.6479A>G
 gnomAD v4
18g.23903018A>TCA402048655LAMA3c.1384A>T (p.Lys462Ter)
c.6211A>T (p.Lys2071Ter)
c.3103A>T (p.Lys1035Ter)
c.6043A>T (p.Lys2015Ter)
c.989A>T
c.1216A>T (p.Lys406Ter)
n.789A>T
c.6238A>T (p.Lys2080Ter)
c.6229A>T (p.Lys2077Ter)
c.6220A>T (p.Lys2074Ter)
c.6106A>T (p.Lys2036Ter)
c.4090A>T (p.Lys1364Ter)
c.1780A>T (p.Lys594Ter)
n.6479A>T
18g.23903019A>CCA402048658LAMA3c.1385A>C (p.Lys462Thr)
c.6212A>C (p.Lys2071Thr)
c.3104A>C (p.Lys1035Thr)
c.6044A>C (p.Lys2015Thr)
c.990A>C
c.1217A>C (p.Lys406Thr)
n.790A>C
c.6239A>C (p.Lys2080Thr)
c.6230A>C (p.Lys2077Thr)
c.6221A>C (p.Lys2074Thr)
c.6107A>C (p.Lys2036Thr)
c.4091A>C (p.Lys1364Thr)
c.1781A>C (p.Lys594Thr)
n.6480A>C
18g.23903019A>GCA402048660LAMA3c.1385A>G (p.Lys462Arg)
c.6212A>G (p.Lys2071Arg)
c.3104A>G (p.Lys1035Arg)
c.6044A>G (p.Lys2015Arg)
c.990A>G
c.1217A>G (p.Lys406Arg)
n.790A>G
c.6239A>G (p.Lys2080Arg)
c.6230A>G (p.Lys2077Arg)
c.6221A>G (p.Lys2074Arg)
c.6107A>G (p.Lys2036Arg)
c.4091A>G (p.Lys1364Arg)
c.1781A>G (p.Lys594Arg)
n.6480A>G
18g.23903019A>TCA402048661LAMA3c.1385A>T (p.Lys462Ile)
c.6212A>T (p.Lys2071Ile)
c.3104A>T (p.Lys1035Ile)
c.6044A>T (p.Lys2015Ile)
c.990A>T
c.1217A>T (p.Lys406Ile)
n.790A>T
c.6239A>T (p.Lys2080Ile)
c.6230A>T (p.Lys2077Ile)
c.6221A>T (p.Lys2074Ile)
c.6107A>T (p.Lys2036Ile)
c.4091A>T (p.Lys1364Ile)
c.1781A>T (p.Lys594Ile)
n.6480A>T
18g.23903020A>CCA402048664LAMA3c.1386A>C (p.Lys462Asn)
c.6213A>C (p.Lys2071Asn)
c.3105A>C (p.Lys1035Asn)
c.6045A>C (p.Lys2015Asn)
c.991A>C
c.1218A>C (p.Lys406Asn)
n.791A>C
c.6240A>C (p.Lys2080Asn)
c.6231A>C (p.Lys2077Asn)
c.6222A>C (p.Lys2074Asn)
c.6108A>C (p.Lys2036Asn)
c.4092A>C (p.Lys1364Asn)
c.1782A>C (p.Lys594Asn)
n.6481A>C
18g.23903020A>GCA503334638LAMA3c.1386A>G (p.Lys462=)
c.6213A>G (p.Lys2071=)
c.3105A>G (p.Lys1035=)
c.6045A>G (p.Lys2015=)
c.991A>G
c.1218A>G (p.Lys406=)
n.791A>G
c.6240A>G (p.Lys2080=)
c.6231A>G (p.Lys2077=)
c.6222A>G (p.Lys2074=)
c.6108A>G (p.Lys2036=)
c.4092A>G (p.Lys1364=)
c.1782A>G (p.Lys594=)
n.6481A>G
18g.23903020A>TCA402048666LAMA3c.1386A>T (p.Lys462Asn)
c.6213A>T (p.Lys2071Asn)
c.3105A>T (p.Lys1035Asn)
c.6045A>T (p.Lys2015Asn)
c.991A>T
c.1218A>T (p.Lys406Asn)
n.791A>T
c.6240A>T (p.Lys2080Asn)
c.6231A>T (p.Lys2077Asn)
c.6222A>T (p.Lys2074Asn)
c.6108A>T (p.Lys2036Asn)
c.4092A>T (p.Lys1364Asn)
c.1782A>T (p.Lys594Asn)
n.6481A>T
18g.23903021G>ACA402048669LAMA3c.1387G>A (p.Glu463Lys)
c.6214G>A (p.Glu2072Lys)
c.3106G>A (p.Glu1036Lys)
c.6046G>A (p.Glu2016Lys)
c.992G>A
c.1219G>A (p.Glu407Lys)
n.792G>A
c.6241G>A (p.Glu2081Lys)
c.6232G>A (p.Glu2078Lys)
c.6223G>A (p.Glu2075Lys)
c.6109G>A (p.Glu2037Lys)
c.4093G>A (p.Glu1365Lys)
c.1783G>A (p.Glu595Lys)
n.6482G>A
18g.23903021G>CCA402048670LAMA3c.1387G>C (p.Glu463Gln)
c.6214G>C (p.Glu2072Gln)
c.3106G>C (p.Glu1036Gln)
c.6046G>C (p.Glu2016Gln)
c.992G>C
c.1219G>C (p.Glu407Gln)
n.792G>C
c.6241G>C (p.Glu2081Gln)
c.6232G>C (p.Glu2078Gln)
c.6223G>C (p.Glu2075Gln)
c.6109G>C (p.Glu2037Gln)
c.4093G>C (p.Glu1365Gln)
c.1783G>C (p.Glu595Gln)
n.6482G>C
18g.23903021G>TCA402048673LAMA3c.1387G>T (p.Glu463Ter)
c.6214G>T (p.Glu2072Ter)
c.3106G>T (p.Glu1036Ter)
c.6046G>T (p.Glu2016Ter)
c.992G>T
c.1219G>T (p.Glu407Ter)
n.792G>T
c.6241G>T (p.Glu2081Ter)
c.6232G>T (p.Glu2078Ter)
c.6223G>T (p.Glu2075Ter)
c.6109G>T (p.Glu2037Ter)
c.4093G>T (p.Glu1365Ter)
c.1783G>T (p.Glu595Ter)
n.6482G>T
18g.23903022A>CCA402048678LAMA3c.1388A>C (p.Glu463Ala)
c.6215A>C (p.Glu2072Ala)
c.3107A>C (p.Glu1036Ala)
c.6047A>C (p.Glu2016Ala)
c.993A>C
c.1220A>C (p.Glu407Ala)
n.793A>C
c.6242A>C (p.Glu2081Ala)
c.6233A>C (p.Glu2078Ala)
c.6224A>C (p.Glu2075Ala)
c.6110A>C (p.Glu2037Ala)
c.4094A>C (p.Glu1365Ala)
c.1784A>C (p.Glu595Ala)
n.6483A>C
18g.23903022A>GCA402048680LAMA3c.1388A>G (p.Glu463Gly)
c.6215A>G (p.Glu2072Gly)
c.3107A>G (p.Glu1036Gly)
c.6047A>G (p.Glu2016Gly)
c.993A>G
c.1220A>G (p.Glu407Gly)
n.793A>G
c.6242A>G (p.Glu2081Gly)
c.6233A>G (p.Glu2078Gly)
c.6224A>G (p.Glu2075Gly)
c.6110A>G (p.Glu2037Gly)
c.4094A>G (p.Glu1365Gly)
c.1784A>G (p.Glu595Gly)
n.6483A>G
18g.23903022A>TCA402048676LAMA3c.1388A>T (p.Glu463Val)
c.6215A>T (p.Glu2072Val)
c.3107A>T (p.Glu1036Val)
c.6047A>T (p.Glu2016Val)
c.993A>T
c.1220A>T (p.Glu407Val)
n.793A>T
c.6242A>T (p.Glu2081Val)
c.6233A>T (p.Glu2078Val)
c.6224A>T (p.Glu2075Val)
c.6110A>T (p.Glu2037Val)
c.4094A>T (p.Glu1365Val)
c.1784A>T (p.Glu595Val)
n.6483A>T
18g.23903023A>CCA402048681LAMA3c.1389A>C (p.Glu463Asp)
c.6216A>C (p.Glu2072Asp)
c.3108A>C (p.Glu1036Asp)
c.6048A>C (p.Glu2016Asp)
c.994A>C
c.1221A>C (p.Glu407Asp)
n.794A>C
c.6243A>C (p.Glu2081Asp)
c.6234A>C (p.Glu2078Asp)
c.6225A>C (p.Glu2075Asp)
c.6111A>C (p.Glu2037Asp)
c.4095A>C (p.Glu1365Asp)
c.1785A>C (p.Glu595Asp)
n.6484A>C
18g.23903023A>GCA503334656LAMA3c.1389A>G (p.Glu463=)
c.6216A>G (p.Glu2072=)
c.3108A>G (p.Glu1036=)
c.6048A>G (p.Glu2016=)
c.994A>G
c.1221A>G (p.Glu407=)
n.794A>G
c.6243A>G (p.Glu2081=)
c.6234A>G (p.Glu2078=)
c.6225A>G (p.Glu2075=)
c.6111A>G (p.Glu2037=)
c.4095A>G (p.Glu1365=)
c.1785A>G (p.Glu595=)
n.6484A>G
18g.23903023A>TCA402048682LAMA3c.1389A>T (p.Glu463Asp)
c.6216A>T (p.Glu2072Asp)
c.3108A>T (p.Glu1036Asp)
c.6048A>T (p.Glu2016Asp)
c.994A>T
c.1221A>T (p.Glu407Asp)
n.794A>T
c.6243A>T (p.Glu2081Asp)
c.6234A>T (p.Glu2078Asp)
c.6225A>T (p.Glu2075Asp)
c.6111A>T (p.Glu2037Asp)
c.4095A>T (p.Glu1365Asp)
c.1785A>T (p.Glu595Asp)
n.6484A>T
 gnomAD v4
18g.23903024A>CCA402048683LAMA3c.1390A>C (p.Ile464Leu)
c.6217A>C (p.Ile2073Leu)
c.3109A>C (p.Ile1037Leu)
c.6049A>C (p.Ile2017Leu)
c.995A>C
c.1222A>C (p.Ile408Leu)
n.795A>C
c.6244A>C (p.Ile2082Leu)
c.6235A>C (p.Ile2079Leu)
c.6226A>C (p.Ile2076Leu)
c.6112A>C (p.Ile2038Leu)
c.4096A>C (p.Ile1366Leu)
c.1786A>C (p.Ile596Leu)
n.6485A>C
18g.23903024A>GCA402048684LAMA3c.1390A>G (p.Ile464Val)
c.6217A>G (p.Ile2073Val)
c.3109A>G (p.Ile1037Val)
c.6049A>G (p.Ile2017Val)
c.995A>G
c.1222A>G (p.Ile408Val)
n.795A>G
c.6244A>G (p.Ile2082Val)
c.6235A>G (p.Ile2079Val)
c.6226A>G (p.Ile2076Val)
c.6112A>G (p.Ile2038Val)
c.4096A>G (p.Ile1366Val)
c.1786A>G (p.Ile596Val)
n.6485A>G
18g.23903024A>TCA402048685LAMA3c.1390A>T (p.Ile464Leu)
c.6217A>T (p.Ile2073Leu)
c.3109A>T (p.Ile1037Leu)
c.6049A>T (p.Ile2017Leu)
c.995A>T
c.1222A>T (p.Ile408Leu)
n.795A>T
c.6244A>T (p.Ile2082Leu)
c.6235A>T (p.Ile2079Leu)
c.6226A>T (p.Ile2076Leu)
c.6112A>T (p.Ile2038Leu)
c.4096A>T (p.Ile1366Leu)
c.1786A>T (p.Ile596Leu)
n.6485A>T
18g.23903025T>ACA402048686LAMA3c.1391T>A (p.Ile464Lys)
c.6218T>A (p.Ile2073Lys)
c.3110T>A (p.Ile1037Lys)
c.6050T>A (p.Ile2017Lys)
c.996T>A
c.1223T>A (p.Ile408Lys)
n.796T>A
c.6245T>A (p.Ile2082Lys)
c.6236T>A (p.Ile2079Lys)
c.6227T>A (p.Ile2076Lys)
c.6113T>A (p.Ile2038Lys)
c.4097T>A (p.Ile1366Lys)
c.1787T>A (p.Ile596Lys)
n.6486T>A
18g.23903025T>CCA402048687LAMA3c.1391T>C (p.Ile464Thr)
c.6218T>C (p.Ile2073Thr)
c.3110T>C (p.Ile1037Thr)
c.6050T>C (p.Ile2017Thr)
c.996T>C
c.1223T>C (p.Ile408Thr)
n.796T>C
c.6245T>C (p.Ile2082Thr)
c.6236T>C (p.Ile2079Thr)
c.6227T>C (p.Ile2076Thr)
c.6113T>C (p.Ile2038Thr)
c.4097T>C (p.Ile1366Thr)
c.1787T>C (p.Ile596Thr)
n.6486T>C
 dbSNP
18g.23903025T>GCA8916312LAMA3c.1391T>G (p.Ile464Arg)
c.6218T>G (p.Ile2073Arg)
c.3110T>G (p.Ile1037Arg)
c.6050T>G (p.Ile2017Arg)
c.996T>G
c.1223T>G (p.Ile408Arg)
n.796T>G
c.6245T>G (p.Ile2082Arg)
c.6236T>G (p.Ile2079Arg)
c.6227T>G (p.Ile2076Arg)
c.6113T>G (p.Ile2038Arg)
c.4097T>G (p.Ile1366Arg)
c.1787T>G (p.Ile596Arg)
n.6486T>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23903025T=CA2290323900LAMA3c.1391T= (p.Ile464=)
c.6218T= (p.Ile2073=)
c.3110T= (p.Ile1037=)
c.6050T= (p.Ile2017=)
c.996T=
c.1223T= (p.Ile408=)
n.796T=
c.6245T= (p.Ile2082=)
c.6236T= (p.Ile2079=)
c.6227T= (p.Ile2076=)
c.6113T= (p.Ile2038=)
c.4097T= (p.Ile1366=)
c.1787T= (p.Ile596=)
n.6486T=
18g.23903026A=CA2290323906LAMA3c.1392A= (p.Ile464=)
c.6219A= (p.Ile2073=)
c.3111A= (p.Ile1037=)
c.6051A= (p.Ile2017=)
c.997A=
c.1224A= (p.Ile408=)
n.797A=
c.6246A= (p.Ile2082=)
c.6237A= (p.Ile2079=)
c.6228A= (p.Ile2076=)
c.6114A= (p.Ile2038=)
c.4098A= (p.Ile1366=)
c.1788A= (p.Ile596=)
n.6487A=
18g.23903026A>CCA503334664LAMA3c.1392A>C (p.Ile464=)
c.6219A>C (p.Ile2073=)
c.3111A>C (p.Ile1037=)
c.6051A>C (p.Ile2017=)
c.997A>C
c.1224A>C (p.Ile408=)
n.797A>C
c.6246A>C (p.Ile2082=)
c.6237A>C (p.Ile2079=)
c.6228A>C (p.Ile2076=)
c.6114A>C (p.Ile2038=)
c.4098A>C (p.Ile1366=)
c.1788A>C (p.Ile596=)
n.6487A>C
18g.23903026A>GCA402048688LAMA3c.1392A>G (p.Ile464Met)
c.6219A>G (p.Ile2073Met)
c.3111A>G (p.Ile1037Met)
c.6051A>G (p.Ile2017Met)
c.997A>G
c.1224A>G (p.Ile408Met)
n.797A>G
c.6246A>G (p.Ile2082Met)
c.6237A>G (p.Ile2079Met)
c.6228A>G (p.Ile2076Met)
c.6114A>G (p.Ile2038Met)
c.4098A>G (p.Ile1366Met)
c.1788A>G (p.Ile596Met)
n.6487A>G
 dbSNP
18g.23903026A>TCA503334667LAMA3c.1392A>T (p.Ile464=)
c.6219A>T (p.Ile2073=)
c.3111A>T (p.Ile1037=)
c.6051A>T (p.Ile2017=)
c.997A>T
c.1224A>T (p.Ile408=)
n.797A>T
c.6246A>T (p.Ile2082=)
c.6237A>T (p.Ile2079=)
c.6228A>T (p.Ile2076=)
c.6114A>T (p.Ile2038=)
c.4098A>T (p.Ile1366=)
c.1788A>T (p.Ile596=)
n.6487A>T
18g.23903027A>CCA402048689LAMA3c.1393A>C (p.Asn465His)
c.6220A>C (p.Asn2074His)
c.3112A>C (p.Asn1038His)
c.6052A>C (p.Asn2018His)
c.998A>C
c.1225A>C (p.Asn409His)
n.798A>C
c.6247A>C (p.Asn2083His)
c.6238A>C (p.Asn2080His)
c.6229A>C (p.Asn2077His)
c.6115A>C (p.Asn2039His)
c.4099A>C (p.Asn1367His)
c.1789A>C (p.Asn597His)
n.6488A>C
18g.23903027A>GCA402048690LAMA3c.1393A>G (p.Asn465Asp)
c.6220A>G (p.Asn2074Asp)
c.3112A>G (p.Asn1038Asp)
c.6052A>G (p.Asn2018Asp)
c.998A>G
c.1225A>G (p.Asn409Asp)
n.798A>G
c.6247A>G (p.Asn2083Asp)
c.6238A>G (p.Asn2080Asp)
c.6229A>G (p.Asn2077Asp)
c.6115A>G (p.Asn2039Asp)
c.4099A>G (p.Asn1367Asp)
c.1789A>G (p.Asn597Asp)
n.6488A>G
18g.23903027A>TCA402048691LAMA3c.1393A>T (p.Asn465Tyr)
c.6220A>T (p.Asn2074Tyr)
c.3112A>T (p.Asn1038Tyr)
c.6052A>T (p.Asn2018Tyr)
c.998A>T
c.1225A>T (p.Asn409Tyr)
n.798A>T
c.6247A>T (p.Asn2083Tyr)
c.6238A>T (p.Asn2080Tyr)
c.6229A>T (p.Asn2077Tyr)
c.6115A>T (p.Asn2039Tyr)
c.4099A>T (p.Asn1367Tyr)
c.1789A>T (p.Asn597Tyr)
n.6488A>T
18g.23903028A>CCA402048693LAMA3c.1394A>C (p.Asn465Thr)
c.6221A>C (p.Asn2074Thr)
c.3113A>C (p.Asn1038Thr)
c.6053A>C (p.Asn2018Thr)
c.999A>C
c.1226A>C (p.Asn409Thr)
n.799A>C
c.6248A>C (p.Asn2083Thr)
c.6239A>C (p.Asn2080Thr)
c.6230A>C (p.Asn2077Thr)
c.6116A>C (p.Asn2039Thr)
c.4100A>C (p.Asn1367Thr)
c.1790A>C (p.Asn597Thr)
n.6489A>C
18g.23903028A>GCA402048694LAMA3c.1394A>G (p.Asn465Ser)
c.6221A>G (p.Asn2074Ser)
c.3113A>G (p.Asn1038Ser)
c.6053A>G (p.Asn2018Ser)
c.999A>G
c.1226A>G (p.Asn409Ser)
n.799A>G
c.6248A>G (p.Asn2083Ser)
c.6239A>G (p.Asn2080Ser)
c.6230A>G (p.Asn2077Ser)
c.6116A>G (p.Asn2039Ser)
c.4100A>G (p.Asn1367Ser)
c.1790A>G (p.Asn597Ser)
n.6489A>G
18g.23903028A>TCA402048692LAMA3c.1394A>T (p.Asn465Ile)
c.6221A>T (p.Asn2074Ile)
c.3113A>T (p.Asn1038Ile)
c.6053A>T (p.Asn2018Ile)
c.999A>T
c.1226A>T (p.Asn409Ile)
n.799A>T
c.6248A>T (p.Asn2083Ile)
c.6239A>T (p.Asn2080Ile)
c.6230A>T (p.Asn2077Ile)
c.6116A>T (p.Asn2039Ile)
c.4100A>T (p.Asn1367Ile)
c.1790A>T (p.Asn597Ile)
n.6489A>T
18g.23903029T>ACA402048695LAMA3c.1395T>A (p.Asn465Lys)
c.6222T>A (p.Asn2074Lys)
c.3114T>A (p.Asn1038Lys)
c.6054T>A (p.Asn2018Lys)
c.1000T>A
c.1227T>A (p.Asn409Lys)
n.800T>A
c.6249T>A (p.Asn2083Lys)
c.6240T>A (p.Asn2080Lys)
c.6231T>A (p.Asn2077Lys)
c.6117T>A (p.Asn2039Lys)
c.4101T>A (p.Asn1367Lys)
c.1791T>A (p.Asn597Lys)
n.6490T>A
18g.23903029T>CCA503334675LAMA3c.1395T>C (p.Asn465=)
c.6222T>C (p.Asn2074=)
c.3114T>C (p.Asn1038=)
c.6054T>C (p.Asn2018=)
c.1000T>C
c.1227T>C (p.Asn409=)
n.800T>C
c.6249T>C (p.Asn2083=)
c.6240T>C (p.Asn2080=)
c.6231T>C (p.Asn2077=)
c.6117T>C (p.Asn2039=)
c.4101T>C (p.Asn1367=)
c.1791T>C (p.Asn597=)
n.6490T>C
 gnomAD v4
18g.23903029T>GCA402048696LAMA3c.1395T>G (p.Asn465Lys)
c.6222T>G (p.Asn2074Lys)
c.3114T>G (p.Asn1038Lys)
c.6054T>G (p.Asn2018Lys)
c.1000T>G
c.1227T>G (p.Asn409Lys)
n.800T>G
c.6249T>G (p.Asn2083Lys)
c.6240T>G (p.Asn2080Lys)
c.6231T>G (p.Asn2077Lys)
c.6117T>G (p.Asn2039Lys)
c.4101T>G (p.Asn1367Lys)
c.1791T>G (p.Asn597Lys)
n.6490T>G
18g.23903030T>ACA402048697LAMA3c.1396T>A (p.Ser466Thr)
c.6223T>A (p.Ser2075Thr)
c.3115T>A (p.Ser1039Thr)
c.6055T>A (p.Ser2019Thr)
c.1001T>A
c.1228T>A (p.Ser410Thr)
n.801T>A
c.6250T>A (p.Ser2084Thr)
c.6241T>A (p.Ser2081Thr)
c.6232T>A (p.Ser2078Thr)
c.6118T>A (p.Ser2040Thr)
c.4102T>A (p.Ser1368Thr)
c.1792T>A (p.Ser598Thr)
n.6491T>A
18g.23903030T>CCA402048698LAMA3c.1396T>C (p.Ser466Pro)
c.6223T>C (p.Ser2075Pro)
c.3115T>C (p.Ser1039Pro)
c.6055T>C (p.Ser2019Pro)
c.1001T>C
c.1228T>C (p.Ser410Pro)
n.801T>C
c.6250T>C (p.Ser2084Pro)
c.6241T>C (p.Ser2081Pro)
c.6232T>C (p.Ser2078Pro)
c.6118T>C (p.Ser2040Pro)
c.4102T>C (p.Ser1368Pro)
c.1792T>C (p.Ser598Pro)
n.6491T>C
18g.23903030T>GCA402048699LAMA3c.1396T>G (p.Ser466Ala)
c.6223T>G (p.Ser2075Ala)
c.3115T>G (p.Ser1039Ala)
c.6055T>G (p.Ser2019Ala)
c.1001T>G
c.1228T>G (p.Ser410Ala)
n.801T>G
c.6250T>G (p.Ser2084Ala)
c.6241T>G (p.Ser2081Ala)
c.6232T>G (p.Ser2078Ala)
c.6118T>G (p.Ser2040Ala)
c.4102T>G (p.Ser1368Ala)
c.1792T>G (p.Ser598Ala)
n.6491T>G
18g.23903031C>ACA402048702LAMA3c.1397C>A (p.Ser466Tyr)
c.6224C>A (p.Ser2075Tyr)
c.3116C>A (p.Ser1039Tyr)
c.6056C>A (p.Ser2019Tyr)
c.1002C>A
c.1229C>A (p.Ser410Tyr)
n.802C>A
c.6251C>A (p.Ser2084Tyr)
c.6242C>A (p.Ser2081Tyr)
c.6233C>A (p.Ser2078Tyr)
c.6119C>A (p.Ser2040Tyr)
c.4103C>A (p.Ser1368Tyr)
c.1793C>A (p.Ser598Tyr)
n.6492C>A
 gnomAD v4
18g.23903031C=CA2290323910LAMA3c.1397C= (p.Ser466=)
c.6224C= (p.Ser2075=)
c.3116C= (p.Ser1039=)
c.6056C= (p.Ser2019=)
c.1002C=
c.1229C= (p.Ser410=)
n.802C=
c.6251C= (p.Ser2084=)
c.6242C= (p.Ser2081=)
c.6233C= (p.Ser2078=)
c.6119C= (p.Ser2040=)
c.4103C= (p.Ser1368=)
c.1793C= (p.Ser598=)
n.6492C=
18g.23903031C>GCA402048700LAMA3c.1397C>G (p.Ser466Cys)
c.6224C>G (p.Ser2075Cys)
c.3116C>G (p.Ser1039Cys)
c.6056C>G (p.Ser2019Cys)
c.1002C>G
c.1229C>G (p.Ser410Cys)
n.802C>G
c.6251C>G (p.Ser2084Cys)
c.6242C>G (p.Ser2081Cys)
c.6233C>G (p.Ser2078Cys)
c.6119C>G (p.Ser2040Cys)
c.4103C>G (p.Ser1368Cys)
c.1793C>G (p.Ser598Cys)
n.6492C>G
 gnomAD v4
18g.23903031C>TCA402048701LAMA3c.1397C>T (p.Ser466Phe)
c.6224C>T (p.Ser2075Phe)
c.3116C>T (p.Ser1039Phe)
c.6056C>T (p.Ser2019Phe)
c.1002C>T
c.1229C>T (p.Ser410Phe)
n.802C>T
c.6251C>T (p.Ser2084Phe)
c.6242C>T (p.Ser2081Phe)
c.6233C>T (p.Ser2078Phe)
c.6119C>T (p.Ser2040Phe)
c.4103C>T (p.Ser1368Phe)
c.1793C>T (p.Ser598Phe)
n.6492C>T
 dbSNP gnomAD v2 gnomAD v4
18g.23903032C>ACA503334685LAMA3c.1398C>A (p.Ser466=)
c.6225C>A (p.Ser2075=)
c.3117C>A (p.Ser1039=)
c.6057C>A (p.Ser2019=)
c.1003C>A
c.1230C>A (p.Ser410=)
n.803C>A
c.6252C>A (p.Ser2084=)
c.6243C>A (p.Ser2081=)
c.6234C>A (p.Ser2078=)
c.6120C>A (p.Ser2040=)
c.4104C>A (p.Ser1368=)
c.1794C>A (p.Ser598=)
n.6493C>A
18g.23903032C=CA2290323917LAMA3c.1398C= (p.Ser466=)
c.6225C= (p.Ser2075=)
c.3117C= (p.Ser1039=)
c.6057C= (p.Ser2019=)
c.1003C=
c.1230C= (p.Ser410=)
n.803C=
c.6252C= (p.Ser2084=)
c.6243C= (p.Ser2081=)
c.6234C= (p.Ser2078=)
c.6120C= (p.Ser2040=)
c.4104C= (p.Ser1368=)
c.1794C= (p.Ser598=)
n.6493C=
18g.23903032C>GCA503334687LAMA3c.1398C>G (p.Ser466=)
c.6225C>G (p.Ser2075=)
c.3117C>G (p.Ser1039=)
c.6057C>G (p.Ser2019=)
c.1003C>G
c.1230C>G (p.Ser410=)
n.803C>G
c.6252C>G (p.Ser2084=)
c.6243C>G (p.Ser2081=)
c.6234C>G (p.Ser2078=)
c.6120C>G (p.Ser2040=)
c.4104C>G (p.Ser1368=)
c.1794C>G (p.Ser598=)
n.6493C>G
18g.23903032C>TCA503334684LAMA3c.1398C>T (p.Ser466=)
c.6225C>T (p.Ser2075=)
c.3117C>T (p.Ser1039=)
c.6057C>T (p.Ser2019=)
c.1003C>T
c.1230C>T (p.Ser410=)
n.803C>T
c.6252C>T (p.Ser2084=)
c.6243C>T (p.Ser2081=)
c.6234C>T (p.Ser2078=)
c.6120C>T (p.Ser2040=)
c.4104C>T (p.Ser1368=)
c.1794C>T (p.Ser598=)
n.6493C>T
 dbSNP gnomAD v3 gnomAD v4
18g.23903033C>ACA402048703LAMA3c.1399C>A (p.Leu467Met)
c.6226C>A (p.Leu2076Met)
c.3118C>A (p.Leu1040Met)
c.6058C>A (p.Leu2020Met)
c.1004C>A
c.1231C>A (p.Leu411Met)
n.804C>A
c.6253C>A (p.Leu2085Met)
c.6244C>A (p.Leu2082Met)
c.6235C>A (p.Leu2079Met)
c.6121C>A (p.Leu2041Met)
c.4105C>A (p.Leu1369Met)
c.1795C>A (p.Leu599Met)
n.6494C>A
 gnomAD v4
18g.23903033C=CA2290323919LAMA3c.1399C= (p.Leu467=)
c.6226C= (p.Leu2076=)
c.3118C= (p.Leu1040=)
c.6058C= (p.Leu2020=)
c.1004C=
c.1231C= (p.Leu411=)
n.804C=
c.6253C= (p.Leu2085=)
c.6244C= (p.Leu2082=)
c.6235C= (p.Leu2079=)
c.6121C= (p.Leu2041=)
c.4105C= (p.Leu1369=)
c.1795C= (p.Leu599=)
n.6494C=
18g.23903033C>GCA402048704LAMA3c.1399C>G (p.Leu467Val)
c.6226C>G (p.Leu2076Val)
c.3118C>G (p.Leu1040Val)
c.6058C>G (p.Leu2020Val)
c.1004C>G
c.1231C>G (p.Leu411Val)
n.804C>G
c.6253C>G (p.Leu2085Val)
c.6244C>G (p.Leu2082Val)
c.6235C>G (p.Leu2079Val)
c.6121C>G (p.Leu2041Val)
c.4105C>G (p.Leu1369Val)
c.1795C>G (p.Leu599Val)
n.6494C>G
18g.23903033C>TCA503334689LAMA3c.1399C>T (p.Leu467=)
c.6226C>T (p.Leu2076=)
c.3118C>T (p.Leu1040=)
c.6058C>T (p.Leu2020=)
c.1004C>T
c.1231C>T (p.Leu411=)
n.804C>T
c.6253C>T (p.Leu2085=)
c.6244C>T (p.Leu2082=)
c.6235C>T (p.Leu2079=)
c.6121C>T (p.Leu2041=)
c.4105C>T (p.Leu1369=)
c.1795C>T (p.Leu599=)
n.6494C>T
 dbSNP gnomAD v2 gnomAD v4
18g.23903034T>ACA402048705LAMA3c.1400T>A (p.Leu467Gln)
c.6227T>A (p.Leu2076Gln)
c.3119T>A (p.Leu1040Gln)
c.6059T>A (p.Leu2020Gln)
c.1005T>A
c.1232T>A (p.Leu411Gln)
n.805T>A
c.6254T>A (p.Leu2085Gln)
c.6245T>A (p.Leu2082Gln)
c.6236T>A (p.Leu2079Gln)
c.6122T>A (p.Leu2041Gln)
c.4106T>A (p.Leu1369Gln)
c.1796T>A (p.Leu599Gln)
n.6495T>A
18g.23903034T>CCA402048706LAMA3c.1400T>C (p.Leu467Pro)
c.6227T>C (p.Leu2076Pro)
c.3119T>C (p.Leu1040Pro)
c.6059T>C (p.Leu2020Pro)
c.1005T>C
c.1232T>C (p.Leu411Pro)
n.805T>C
c.6254T>C (p.Leu2085Pro)
c.6245T>C (p.Leu2082Pro)
c.6236T>C (p.Leu2079Pro)
c.6122T>C (p.Leu2041Pro)
c.4106T>C (p.Leu1369Pro)
c.1796T>C (p.Leu599Pro)
n.6495T>C
18g.23903034T>GCA402048707LAMA3c.1400T>G (p.Leu467Arg)
c.6227T>G (p.Leu2076Arg)
c.3119T>G (p.Leu1040Arg)
c.6059T>G (p.Leu2020Arg)
c.1005T>G
c.1232T>G (p.Leu411Arg)
n.805T>G
c.6254T>G (p.Leu2085Arg)
c.6245T>G (p.Leu2082Arg)
c.6236T>G (p.Leu2079Arg)
c.6122T>G (p.Leu2041Arg)
c.4106T>G (p.Leu1369Arg)
c.1796T>G (p.Leu599Arg)
n.6495T>G
18g.23903035G>ACA503334697LAMA3c.1401G>A (p.Leu467=)
c.6228G>A (p.Leu2076=)
c.3120G>A (p.Leu1040=)
c.6060G>A (p.Leu2020=)
c.1006G>A
c.1233G>A (p.Leu411=)
n.806G>A
c.6255G>A (p.Leu2085=)
c.6246G>A (p.Leu2082=)
c.6237G>A (p.Leu2079=)
c.6123G>A (p.Leu2041=)
c.4107G>A (p.Leu1369=)
c.1797G>A (p.Leu599=)
n.6496G>A
 gnomAD v4
18g.23903035G>CCA503334700LAMA3c.1401G>C (p.Leu467=)
c.6228G>C (p.Leu2076=)
c.3120G>C (p.Leu1040=)
c.6060G>C (p.Leu2020=)
c.1006G>C
c.1233G>C (p.Leu411=)
n.806G>C
c.6255G>C (p.Leu2085=)
c.6246G>C (p.Leu2082=)
c.6237G>C (p.Leu2079=)
c.6123G>C (p.Leu2041=)
c.4107G>C (p.Leu1369=)
c.1797G>C (p.Leu599=)
n.6496G>C
18g.23903035G>TCA503334699LAMA3c.1401G>T (p.Leu467=)
c.6228G>T (p.Leu2076=)
c.3120G>T (p.Leu1040=)
c.6060G>T (p.Leu2020=)
c.1006G>T
c.1233G>T (p.Leu411=)
n.806G>T
c.6255G>T (p.Leu2085=)
c.6246G>T (p.Leu2082=)
c.6237G>T (p.Leu2079=)
c.6123G>T (p.Leu2041=)
c.4107G>T (p.Leu1369=)
c.1797G>T (p.Leu599=)
n.6496G>T
18g.23903036_23903038delCA913014993LAMA3c.1402_1404del (p.Gln468del)
c.6229_6231del (p.Gln2077del)
c.3121_3123del (p.Gln1041del)
c.6061_6063del (p.Gln2021del)
c.1007_1009del
c.1234_1236del (p.Gln412del)
n.807_809del
c.6256_6258del (p.Gln2086del)
c.6247_6249del (p.Gln2083del)
c.6238_6240del (p.Gln2080del)
c.6124_6126del (p.Gln2042del)
c.4108_4110del (p.Gln1370del)
c.1798_1800del (p.Gln600del)
n.6497_6499del
18g.23903035_23903036insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAACA8916313LAMA3c.1401_1402insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA (p.Gln468GlyfsTer26)
c.6228_6229insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA (p.Gln2077GlyfsTer26)
c.3120_3121insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA (p.Gln1041GlyfsTer26)
c.6060_6061insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA (p.Gln2021GlyfsTer26)
c.1006_1007insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA
c.1233_1234insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA (p.Gln412GlyfsTer26)
n.806_807insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA
c.6255_6256insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA (p.Gln2086GlyfsTer26)
c.6246_6247insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA (p.Gln2083GlyfsTer26)
c.6237_6238insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA (p.Gln2080GlyfsTer26)
c.6123_6124insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA (p.Gln2042GlyfsTer26)
c.4107_4108insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA (p.Gln1370GlyfsTer26)
c.1797_1798insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA (p.Gln600GlyfsTer26)
n.6496_6497insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA
 ExAC
18g.23903036C>ACA402048710LAMA3c.1402C>A (p.Gln468Lys)
c.6229C>A (p.Gln2077Lys)
c.3121C>A (p.Gln1041Lys)
c.6061C>A (p.Gln2021Lys)
c.1007C>A
c.1234C>A (p.Gln412Lys)
n.807C>A
c.6256C>A (p.Gln2086Lys)
c.6247C>A (p.Gln2083Lys)
c.6238C>A (p.Gln2080Lys)
c.6124C>A (p.Gln2042Lys)
c.4108C>A (p.Gln1370Lys)
c.1798C>A (p.Gln600Lys)
n.6497C>A
18g.23903036C>GCA402048709LAMA3c.1402C>G (p.Gln468Glu)
c.6229C>G (p.Gln2077Glu)
c.3121C>G (p.Gln1041Glu)
c.6061C>G (p.Gln2021Glu)
c.1007C>G
c.1234C>G (p.Gln412Glu)
n.807C>G
c.6256C>G (p.Gln2086Glu)
c.6247C>G (p.Gln2083Glu)
c.6238C>G (p.Gln2080Glu)
c.6124C>G (p.Gln2042Glu)
c.4108C>G (p.Gln1370Glu)
c.1798C>G (p.Gln600Glu)
n.6497C>G
18g.23903036C>TCA402048708LAMA3c.1402C>T (p.Gln468Ter)
c.6229C>T (p.Gln2077Ter)
c.3121C>T (p.Gln1041Ter)
c.6061C>T (p.Gln2021Ter)
c.1007C>T
c.1234C>T (p.Gln412Ter)
n.807C>T
c.6256C>T (p.Gln2086Ter)
c.6247C>T (p.Gln2083Ter)
c.6238C>T (p.Gln2080Ter)
c.6124C>T (p.Gln2042Ter)
c.4108C>T (p.Gln1370Ter)
c.1798C>T (p.Gln600Ter)
n.6497C>T
18g.23903036_23903038delinsCAGCA2290323921LAMA3c.1402_1404delinsCAG (p.Gln468=)
c.6229_6231delinsCAG (p.Gln2077=)
c.3121_3123delinsCAG (p.Gln1041=)
c.6061_6063delinsCAG (p.Gln2021=)
c.1007_1009delinsCAG
c.1234_1236delinsCAG (p.Gln412=)
n.807_809delinsCAG
c.6256_6258delinsCAG (p.Gln2086=)
c.6247_6249delinsCAG (p.Gln2083=)
c.6238_6240delinsCAG (p.Gln2080=)
c.6124_6126delinsCAG (p.Gln2042=)
c.4108_4110delinsCAG (p.Gln1370=)
c.1798_1800delinsCAG (p.Gln600=)
n.6497_6499delinsCAG
18g.23903037A=CA2290323928LAMA3c.1403A= (p.Gln468=)
c.6230A= (p.Gln2077=)
c.3122A= (p.Gln1041=)
c.6062A= (p.Gln2021=)
c.1008A=
c.1235A= (p.Gln412=)
n.808A=
c.6257A= (p.Gln2086=)
c.6248A= (p.Gln2083=)
c.6239A= (p.Gln2080=)
c.6125A= (p.Gln2042=)
c.4109A= (p.Gln1370=)
c.1799A= (p.Gln600=)
n.6498A=
18g.23903037A>CCA402048711LAMA3c.1403A>C (p.Gln468Pro)
c.6230A>C (p.Gln2077Pro)
c.3122A>C (p.Gln1041Pro)
c.6062A>C (p.Gln2021Pro)
c.1008A>C
c.1235A>C (p.Gln412Pro)
n.808A>C
c.6257A>C (p.Gln2086Pro)
c.6248A>C (p.Gln2083Pro)
c.6239A>C (p.Gln2080Pro)
c.6125A>C (p.Gln2042Pro)
c.4109A>C (p.Gln1370Pro)
c.1799A>C (p.Gln600Pro)
n.6498A>C
18g.23903037A>GCA402048713LAMA3c.1403A>G (p.Gln468Arg)
c.6230A>G (p.Gln2077Arg)
c.3122A>G (p.Gln1041Arg)
c.6062A>G (p.Gln2021Arg)
c.1008A>G
c.1235A>G (p.Gln412Arg)
n.808A>G
c.6257A>G (p.Gln2086Arg)
c.6248A>G (p.Gln2083Arg)
c.6239A>G (p.Gln2080Arg)
c.6125A>G (p.Gln2042Arg)
c.4109A>G (p.Gln1370Arg)
c.1799A>G (p.Gln600Arg)
n.6498A>G
 dbSNP
18g.23903037A>TCA402048712LAMA3c.1403A>T (p.Gln468Leu)
c.6230A>T (p.Gln2077Leu)
c.3122A>T (p.Gln1041Leu)
c.6062A>T (p.Gln2021Leu)
c.1008A>T
c.1235A>T (p.Gln412Leu)
n.808A>T
c.6257A>T (p.Gln2086Leu)
c.6248A>T (p.Gln2083Leu)
c.6239A>T (p.Gln2080Leu)
c.6125A>T (p.Gln2042Leu)
c.4109A>T (p.Gln1370Leu)
c.1799A>T (p.Gln600Leu)
n.6498A>T
18g.23903039_23903040delCA628684861LAMA3c.1405_1406del (p.Ser469Ter)
c.6232_6233del (p.Ser2078Ter)
c.3124_3125del (p.Ser1042Ter)
c.6064_6065del (p.Ser2022Ter)
c.1010_1011del
c.1237_1238del (p.Ser413Ter)
n.810_811del
c.6259_6260del (p.Ser2087Ter)
c.6250_6251del (p.Ser2084Ter)
c.6241_6242del (p.Ser2081Ter)
c.6127_6128del (p.Ser2043Ter)
c.4111_4112del (p.Ser1371Ter)
c.1801_1802del (p.Ser601Ter)
n.6500_6501del
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23903038G>ACA503334708LAMA3c.1404G>A (p.Gln468=)
c.6231G>A (p.Gln2077=)
c.3123G>A (p.Gln1041=)
c.6063G>A (p.Gln2021=)
c.1009G>A
c.1236G>A (p.Gln412=)
n.809G>A
c.6258G>A (p.Gln2086=)
c.6249G>A (p.Gln2083=)
c.6240G>A (p.Gln2080=)
c.6126G>A (p.Gln2042=)
c.4110G>A (p.Gln1370=)
c.1800G>A (p.Gln600=)
n.6499G>A
18g.23903038G>CCA8916314LAMA3c.1404G>C (p.Gln468His)
c.6231G>C (p.Gln2077His)
c.3123G>C (p.Gln1041His)
c.6063G>C (p.Gln2021His)
c.1009G>C
c.1236G>C (p.Gln412His)
n.809G>C
c.6258G>C (p.Gln2086His)
c.6249G>C (p.Gln2083His)
c.6240G>C (p.Gln2080His)
c.6126G>C (p.Gln2042His)
c.4110G>C (p.Gln1370His)
c.1800G>C (p.Gln600His)
n.6499G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23903038G=CA2290323932LAMA3c.1404G= (p.Gln468=)
c.6231G= (p.Gln2077=)
c.3123G= (p.Gln1041=)
c.6063G= (p.Gln2021=)
c.1009G=
c.1236G= (p.Gln412=)
n.809G=
c.6258G= (p.Gln2086=)
c.6249G= (p.Gln2083=)
c.6240G= (p.Gln2080=)
c.6126G= (p.Gln2042=)
c.4110G= (p.Gln1370=)
c.1800G= (p.Gln600=)
n.6499G=
18g.23903038G>TCA402048714LAMA3c.1404G>T (p.Gln468His)
c.6231G>T (p.Gln2077His)
c.3123G>T (p.Gln1041His)
c.6063G>T (p.Gln2021His)
c.1009G>T
c.1236G>T (p.Gln412His)
n.809G>T
c.6258G>T (p.Gln2086His)
c.6249G>T (p.Gln2083His)
c.6240G>T (p.Gln2080His)
c.6126G>T (p.Gln2042His)
c.4110G>T (p.Gln1370His)
c.1800G>T (p.Gln600His)
n.6499G>T
18g.23903039A=CA2290323934LAMA3c.1405A= (p.Ser469=)
c.6232A= (p.Ser2078=)
c.3124A= (p.Ser1042=)
c.6064A= (p.Ser2022=)
c.1010A=
c.1237A= (p.Ser413=)
n.810A=
c.6259A= (p.Ser2087=)
c.6250A= (p.Ser2084=)
c.6241A= (p.Ser2081=)
c.6127A= (p.Ser2043=)
c.4111A= (p.Ser1371=)
c.1801A= (p.Ser601=)
n.6500A=
18g.23903039A>CCA402048715LAMA3c.1405A>C (p.Ser469Arg)
c.6232A>C (p.Ser2078Arg)
c.3124A>C (p.Ser1042Arg)
c.6064A>C (p.Ser2022Arg)
c.1010A>C
c.1237A>C (p.Ser413Arg)
n.810A>C
c.6259A>C (p.Ser2087Arg)
c.6250A>C (p.Ser2084Arg)
c.6241A>C (p.Ser2081Arg)
c.6127A>C (p.Ser2043Arg)
c.4111A>C (p.Ser1371Arg)
c.1801A>C (p.Ser601Arg)
n.6500A>C
18g.23903039A>GCA402048716LAMA3c.1405A>G (p.Ser469Gly)
c.6232A>G (p.Ser2078Gly)
c.3124A>G (p.Ser1042Gly)
c.6064A>G (p.Ser2022Gly)
c.1010A>G
c.1237A>G (p.Ser413Gly)
n.810A>G
c.6259A>G (p.Ser2087Gly)
c.6250A>G (p.Ser2084Gly)
c.6241A>G (p.Ser2081Gly)
c.6127A>G (p.Ser2043Gly)
c.4111A>G (p.Ser1371Gly)
c.1801A>G (p.Ser601Gly)
n.6500A>G
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
18g.23903039A>TCA402048717LAMA3c.1405A>T (p.Ser469Cys)
c.6232A>T (p.Ser2078Cys)
c.3124A>T (p.Ser1042Cys)
c.6064A>T (p.Ser2022Cys)
c.1010A>T
c.1237A>T (p.Ser413Cys)
n.810A>T
c.6259A>T (p.Ser2087Cys)
c.6250A>T (p.Ser2084Cys)
c.6241A>T (p.Ser2081Cys)
c.6127A>T (p.Ser2043Cys)
c.4111A>T (p.Ser1371Cys)
c.1801A>T (p.Ser601Cys)
n.6500A>T
18g.23903040G>ACA402048719LAMA3c.1406G>A (p.Ser469Asn)
c.6233G>A (p.Ser2078Asn)
c.3125G>A (p.Ser1042Asn)
c.6065G>A (p.Ser2022Asn)
c.1011G>A
c.1238G>A (p.Ser413Asn)
n.811G>A
c.6260G>A (p.Ser2087Asn)
c.6251G>A (p.Ser2084Asn)
c.6242G>A (p.Ser2081Asn)
c.6128G>A (p.Ser2043Asn)
c.4112G>A (p.Ser1371Asn)
c.1802G>A (p.Ser601Asn)
n.6501G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23903040G>CCA402048721LAMA3c.1406G>C (p.Ser469Thr)
c.6233G>C (p.Ser2078Thr)
c.3125G>C (p.Ser1042Thr)
c.6065G>C (p.Ser2022Thr)
c.1011G>C
c.1238G>C (p.Ser413Thr)
n.811G>C
c.6260G>C (p.Ser2087Thr)
c.6251G>C (p.Ser2084Thr)
c.6242G>C (p.Ser2081Thr)
c.6128G>C (p.Ser2043Thr)
c.4112G>C (p.Ser1371Thr)
c.1802G>C (p.Ser601Thr)
n.6501G>C
18g.23903040G=CA2290323937LAMA3c.1406G= (p.Ser469=)
c.6233G= (p.Ser2078=)
c.3125G= (p.Ser1042=)
c.6065G= (p.Ser2022=)
c.1011G=
c.1238G= (p.Ser413=)
n.811G=
c.6260G= (p.Ser2087=)
c.6251G= (p.Ser2084=)
c.6242G= (p.Ser2081=)
c.6128G= (p.Ser2043=)
c.4112G= (p.Ser1371=)
c.1802G= (p.Ser601=)
n.6501G=
18g.23903040G>TCA402048723LAMA3c.1406G>T (p.Ser469Ile)
c.6233G>T (p.Ser2078Ile)
c.3125G>T (p.Ser1042Ile)
c.6065G>T (p.Ser2022Ile)
c.1011G>T
c.1238G>T (p.Ser413Ile)
n.811G>T
c.6260G>T (p.Ser2087Ile)
c.6251G>T (p.Ser2084Ile)
c.6242G>T (p.Ser2081Ile)
c.6128G>T (p.Ser2043Ile)
c.4112G>T (p.Ser1371Ile)
c.1802G>T (p.Ser601Ile)
n.6501G>T
18g.23903041T>ACA402048724LAMA3c.1407T>A (p.Ser469Arg)
c.6234T>A (p.Ser2078Arg)
c.3126T>A (p.Ser1042Arg)
c.6066T>A (p.Ser2022Arg)
c.1012T>A
c.1239T>A (p.Ser413Arg)
n.812T>A
c.6261T>A (p.Ser2087Arg)
c.6252T>A (p.Ser2084Arg)
c.6243T>A (p.Ser2081Arg)
c.6129T>A (p.Ser2043Arg)
c.4113T>A (p.Ser1371Arg)
c.1803T>A (p.Ser601Arg)
n.6502T>A
18g.23903041T>CCA503334718LAMA3c.1407T>C (p.Ser469=)
c.6234T>C (p.Ser2078=)
c.3126T>C (p.Ser1042=)
c.6066T>C (p.Ser2022=)
c.1012T>C
c.1239T>C (p.Ser413=)
n.812T>C
c.6261T>C (p.Ser2087=)
c.6252T>C (p.Ser2084=)
c.6243T>C (p.Ser2081=)
c.6129T>C (p.Ser2043=)
c.4113T>C (p.Ser1371=)
c.1803T>C (p.Ser601=)
n.6502T>C
18g.23903041T>GCA402048726LAMA3c.1407T>G (p.Ser469Arg)
c.6234T>G (p.Ser2078Arg)
c.3126T>G (p.Ser1042Arg)
c.6066T>G (p.Ser2022Arg)
c.1012T>G
c.1239T>G (p.Ser413Arg)
n.812T>G
c.6261T>G (p.Ser2087Arg)
c.6252T>G (p.Ser2084Arg)
c.6243T>G (p.Ser2081Arg)
c.6129T>G (p.Ser2043Arg)
c.4113T>G (p.Ser1371Arg)
c.1803T>G (p.Ser601Arg)
n.6502T>G
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
18g.23903057C>TCA503334762LAMA3c.1423C>T (p.Leu475=)
c.6250C>T (p.Leu2084=)
c.3142C>T (p.Leu1048=)
c.6082C>T (p.Leu2028=)
c.1028C>T
c.1255C>T (p.Leu419=)
n.828C>T
c.6277C>T (p.Leu2093=)
c.6268C>T (p.Leu2090=)
c.6259C>T (p.Leu2087=)
c.6145C>T (p.Leu2049=)
c.4129C>T (p.Leu1377=)
c.1819C>T (p.Leu607=)
n.6518C>T
 gnomAD v4
18g.23903058T>ACA402048800LAMA3c.1424T>A (p.Leu475Gln)
c.6251T>A (p.Leu2084Gln)
c.3143T>A (p.Leu1048Gln)
c.6083T>A (p.Leu2028Gln)
c.1029T>A
c.1256T>A (p.Leu419Gln)
n.829T>A
c.6278T>A (p.Leu2093Gln)
c.6269T>A (p.Leu2090Gln)
c.6260T>A (p.Leu2087Gln)
c.6146T>A (p.Leu2049Gln)
c.4130T>A (p.Leu1377Gln)
c.1820T>A (p.Leu607Gln)
n.6519T>A
18g.23903058T>CCA8916317LAMA3c.1424T>C (p.Leu475Pro)
c.6251T>C (p.Leu2084Pro)
c.3143T>C (p.Leu1048Pro)
c.6083T>C (p.Leu2028Pro)
c.1029T>C
c.1256T>C (p.Leu419Pro)
n.829T>C
c.6278T>C (p.Leu2093Pro)
c.6269T>C (p.Leu2090Pro)
c.6260T>C (p.Leu2087Pro)
c.6146T>C (p.Leu2049Pro)
c.4130T>C (p.Leu1377Pro)
c.1820T>C (p.Leu607Pro)
n.6519T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23903058T>GCA402048803LAMA3c.1424T>G (p.Leu475Arg)
c.6251T>G (p.Leu2084Arg)
c.3143T>G (p.Leu1048Arg)
c.6083T>G (p.Leu2028Arg)
c.1029T>G
c.1256T>G (p.Leu419Arg)
n.829T>G
c.6278T>G (p.Leu2093Arg)
c.6269T>G (p.Leu2090Arg)
c.6260T>G (p.Leu2087Arg)
c.6146T>G (p.Leu2049Arg)
c.4130T>G (p.Leu1377Arg)
c.1820T>G (p.Leu607Arg)
n.6519T>G
18g.23903058T=CA2290323951LAMA3c.1424T= (p.Leu475=)
c.6251T= (p.Leu2084=)
c.3143T= (p.Leu1048=)
c.6083T= (p.Leu2028=)
c.1029T=
c.1256T= (p.Leu419=)
n.829T=
c.6278T= (p.Leu2093=)
c.6269T= (p.Leu2090=)
c.6260T= (p.Leu2087=)
c.6146T= (p.Leu2049=)
c.4130T= (p.Leu1377=)
c.1820T= (p.Leu607=)
n.6519T=
18g.23903059A>CCA503334766LAMA3c.1425A>C (p.Leu475=)
c.6252A>C (p.Leu2084=)
c.3144A>C (p.Leu1048=)
c.6084A>C (p.Leu2028=)
c.1030A>C
c.1257A>C (p.Leu419=)
n.830A>C
c.6279A>C (p.Leu2093=)
c.6270A>C (p.Leu2090=)
c.6261A>C (p.Leu2087=)
c.6147A>C (p.Leu2049=)
c.4131A>C (p.Leu1377=)
c.1821A>C (p.Leu607=)
n.6520A>C
18g.23903059A>GCA503334769LAMA3c.1425A>G (p.Leu475=)
c.6252A>G (p.Leu2084=)
c.3144A>G (p.Leu1048=)
c.6084A>G (p.Leu2028=)
c.1030A>G
c.1257A>G (p.Leu419=)
n.830A>G
c.6279A>G (p.Leu2093=)
c.6270A>G (p.Leu2090=)
c.6261A>G (p.Leu2087=)
c.6147A>G (p.Leu2049=)
c.4131A>G (p.Leu1377=)
c.1821A>G (p.Leu607=)
n.6520A>G
18g.23903059A>TCA503334768LAMA3c.1425A>T (p.Leu475=)
c.6252A>T (p.Leu2084=)
c.3144A>T (p.Leu1048=)
c.6084A>T (p.Leu2028=)
c.1030A>T
c.1257A>T (p.Leu419=)
n.830A>T
c.6279A>T (p.Leu2093=)
c.6270A>T (p.Leu2090=)
c.6261A>T (p.Leu2087=)
c.6147A>T (p.Leu2049=)
c.4131A>T (p.Leu1377=)
c.1821A>T (p.Leu607=)
n.6520A>T
18g.23903060A>CCA402048805LAMA3c.1426A>C (p.Thr476Pro)
c.6253A>C (p.Thr2085Pro)
c.3145A>C (p.Thr1049Pro)
c.6085A>C (p.Thr2029Pro)
c.1031A>C
c.1258A>C (p.Thr420Pro)
n.831A>C
c.6280A>C (p.Thr2094Pro)
c.6271A>C (p.Thr2091Pro)
c.6262A>C (p.Thr2088Pro)
c.6148A>C (p.Thr2050Pro)
c.4132A>C (p.Thr1378Pro)
c.1822A>C (p.Thr608Pro)
n.6521A>C
18g.23903060A>GCA402048807LAMA3c.1426A>G (p.Thr476Ala)
c.6253A>G (p.Thr2085Ala)
c.3145A>G (p.Thr1049Ala)
c.6085A>G (p.Thr2029Ala)
c.1031A>G
c.1258A>G (p.Thr420Ala)
n.831A>G
c.6280A>G (p.Thr2094Ala)
c.6271A>G (p.Thr2091Ala)
c.6262A>G (p.Thr2088Ala)
c.6148A>G (p.Thr2050Ala)
c.4132A>G (p.Thr1378Ala)
c.1822A>G (p.Thr608Ala)
n.6521A>G
18g.23903060A>TCA402048809LAMA3c.1426A>T (p.Thr476Ser)
c.6253A>T (p.Thr2085Ser)
c.3145A>T (p.Thr1049Ser)
c.6085A>T (p.Thr2029Ser)
c.1031A>T
c.1258A>T (p.Thr420Ser)
n.831A>T
c.6280A>T (p.Thr2094Ser)
c.6271A>T (p.Thr2091Ser)
c.6262A>T (p.Thr2088Ser)
c.6148A>T (p.Thr2050Ser)
c.4132A>T (p.Thr1378Ser)
c.1822A>T (p.Thr608Ser)
n.6521A>T
18g.23903061C>ACA402048811LAMA3c.1427C>A (p.Thr476Asn)
c.6254C>A (p.Thr2085Asn)
c.3146C>A (p.Thr1049Asn)
c.6086C>A (p.Thr2029Asn)
c.1032C>A
c.1259C>A (p.Thr420Asn)
n.832C>A
c.6281C>A (p.Thr2094Asn)
c.6272C>A (p.Thr2091Asn)
c.6263C>A (p.Thr2088Asn)
c.6149C>A (p.Thr2050Asn)
c.4133C>A (p.Thr1378Asn)
c.1823C>A (p.Thr608Asn)
n.6522C>A
18g.23903061C>GCA402048812LAMA3c.1427C>G (p.Thr476Ser)
c.6254C>G (p.Thr2085Ser)
c.3146C>G (p.Thr1049Ser)
c.6086C>G (p.Thr2029Ser)
c.1032C>G
c.1259C>G (p.Thr420Ser)
n.832C>G
c.6281C>G (p.Thr2094Ser)
c.6272C>G (p.Thr2091Ser)
c.6263C>G (p.Thr2088Ser)
c.6149C>G (p.Thr2050Ser)
c.4133C>G (p.Thr1378Ser)
c.1823C>G (p.Thr608Ser)
n.6522C>G
18g.23903061C>TCA402048814LAMA3c.1427C>T (p.Thr476Ile)
c.6254C>T (p.Thr2085Ile)
c.3146C>T (p.Thr1049Ile)
c.6086C>T (p.Thr2029Ile)
c.1032C>T
c.1259C>T (p.Thr420Ile)
n.832C>T
c.6281C>T (p.Thr2094Ile)
c.6272C>T (p.Thr2091Ile)
c.6263C>T (p.Thr2088Ile)
c.6149C>T (p.Thr2050Ile)
c.4133C>T (p.Thr1378Ile)
c.1823C>T (p.Thr608Ile)
n.6522C>T
18g.23903062C>ACA503334936LAMA3c.1428C>A (p.Thr476=)
c.6255C>A (p.Thr2085=)
c.3147C>A (p.Thr1049=)
c.6087C>A (p.Thr2029=)
c.1033C>A
c.1260C>A (p.Thr420=)
n.833C>A
c.6282C>A (p.Thr2094=)
c.6273C>A (p.Thr2091=)
c.6264C>A (p.Thr2088=)
c.6150C>A (p.Thr2050=)
c.4134C>A (p.Thr1378=)
c.1824C>A (p.Thr608=)
n.6523C>A
18g.23903062C>GCA503334938LAMA3c.1428C>G (p.Thr476=)
c.6255C>G (p.Thr2085=)
c.3147C>G (p.Thr1049=)
c.6087C>G (p.Thr2029=)
c.1033C>G
c.1260C>G (p.Thr420=)
n.833C>G
c.6282C>G (p.Thr2094=)
c.6273C>G (p.Thr2091=)
c.6264C>G (p.Thr2088=)
c.6150C>G (p.Thr2050=)
c.4134C>G (p.Thr1378=)
c.1824C>G (p.Thr608=)
n.6523C>G
18g.23903062C>TCA503334940LAMA3c.1428C>T (p.Thr476=)
c.6255C>T (p.Thr2085=)
c.3147C>T (p.Thr1049=)
c.6087C>T (p.Thr2029=)
c.1033C>T
c.1260C>T (p.Thr420=)
n.833C>T
c.6282C>T (p.Thr2094=)
c.6273C>T (p.Thr2091=)
c.6264C>T (p.Thr2088=)
c.6150C>T (p.Thr2050=)
c.4134C>T (p.Thr1378=)
c.1824C>T (p.Thr608=)
n.6523C>T
 gnomAD v4
18g.23903063A>CCA402049278LAMA3c.1429A>C (p.Thr477Pro)
c.6256A>C (p.Thr2086Pro)
c.3148A>C (p.Thr1050Pro)
c.6088A>C (p.Thr2030Pro)
c.1034A>C
c.1261A>C (p.Thr421Pro)
n.834A>C
c.6283A>C (p.Thr2095Pro)
c.6274A>C (p.Thr2092Pro)
c.6265A>C (p.Thr2089Pro)
c.6151A>C (p.Thr2051Pro)
c.4135A>C (p.Thr1379Pro)
c.1825A>C (p.Thr609Pro)
n.6524A>C
18g.23903063A>GCA402049275LAMA3c.1429A>G (p.Thr477Ala)
c.6256A>G (p.Thr2086Ala)
c.3148A>G (p.Thr1050Ala)
c.6088A>G (p.Thr2030Ala)
c.1034A>G
c.1261A>G (p.Thr421Ala)
n.834A>G
c.6283A>G (p.Thr2095Ala)
c.6274A>G (p.Thr2092Ala)
c.6265A>G (p.Thr2089Ala)
c.6151A>G (p.Thr2051Ala)
c.4135A>G (p.Thr1379Ala)
c.1825A>G (p.Thr609Ala)
n.6524A>G
 gnomAD v4
18g.23903063A>TCA402049273LAMA3c.1429A>T (p.Thr477Ser)
c.6256A>T (p.Thr2086Ser)
c.3148A>T (p.Thr1050Ser)
c.6088A>T (p.Thr2030Ser)
c.1034A>T
c.1261A>T (p.Thr421Ser)
n.834A>T
c.6283A>T (p.Thr2095Ser)
c.6274A>T (p.Thr2092Ser)
c.6265A>T (p.Thr2089Ser)
c.6151A>T (p.Thr2051Ser)
c.4135A>T (p.Thr1379Ser)
c.1825A>T (p.Thr609Ser)
n.6524A>T
18g.23903064C>ACA402049281LAMA3c.1430C>A (p.Thr477Asn)
c.6257C>A (p.Thr2086Asn)
c.3149C>A (p.Thr1050Asn)
c.6089C>A (p.Thr2030Asn)
c.1035C>A
c.1262C>A (p.Thr421Asn)
n.835C>A
c.6284C>A (p.Thr2095Asn)
c.6275C>A (p.Thr2092Asn)
c.6266C>A (p.Thr2089Asn)
c.6152C>A (p.Thr2051Asn)
c.4136C>A (p.Thr1379Asn)
c.1826C>A (p.Thr609Asn)
n.6525C>A
18g.23903064C>GCA402049285LAMA3c.1430C>G (p.Thr477Ser)
c.6257C>G (p.Thr2086Ser)
c.3149C>G (p.Thr1050Ser)
c.6089C>G (p.Thr2030Ser)
c.1035C>G
c.1262C>G (p.Thr421Ser)
n.835C>G
c.6284C>G (p.Thr2095Ser)
c.6275C>G (p.Thr2092Ser)
c.6266C>G (p.Thr2089Ser)
c.6152C>G (p.Thr2051Ser)
c.4136C>G (p.Thr1379Ser)
c.1826C>G (p.Thr609Ser)
n.6525C>G
 gnomAD v4
18g.23903064C>TCA402049283LAMA3c.1430C>T (p.Thr477Ile)
c.6257C>T (p.Thr2086Ile)
c.3149C>T (p.Thr1050Ile)
c.6089C>T (p.Thr2030Ile)
c.1035C>T
c.1262C>T (p.Thr421Ile)
n.835C>T
c.6284C>T (p.Thr2095Ile)
c.6275C>T (p.Thr2092Ile)
c.6266C>T (p.Thr2089Ile)
c.6152C>T (p.Thr2051Ile)
c.4136C>T (p.Thr1379Ile)
c.1826C>T (p.Thr609Ile)
n.6525C>T
 gnomAD v4
18g.23903065T>ACA503334946LAMA3c.1431T>A (p.Thr477=)
c.6258T>A (p.Thr2086=)
c.3150T>A (p.Thr1050=)
c.6090T>A (p.Thr2030=)
c.1036T>A
c.1263T>A (p.Thr421=)
n.836T>A
c.6285T>A (p.Thr2095=)
c.6276T>A (p.Thr2092=)
c.6267T>A (p.Thr2089=)
c.6153T>A (p.Thr2051=)
c.4137T>A (p.Thr1379=)
c.1827T>A (p.Thr609=)
n.6526T>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.23903065T>CCA8916318LAMA3c.1431T>C (p.Thr477=)
c.6258T>C (p.Thr2086=)
c.3150T>C (p.Thr1050=)
c.6090T>C (p.Thr2030=)
c.1036T>C
c.1263T>C (p.Thr421=)
n.836T>C
c.6285T>C (p.Thr2095=)
c.6276T>C (p.Thr2092=)
c.6267T>C (p.Thr2089=)
c.6153T>C (p.Thr2051=)
c.4137T>C (p.Thr1379=)
c.1827T>C (p.Thr609=)
n.6526T>C
 dbSNP ExAC gnomAD v4
18g.23903065T>GCA503334948LAMA3c.1431T>G (p.Thr477=)
c.6258T>G (p.Thr2086=)
c.3150T>G (p.Thr1050=)
c.6090T>G (p.Thr2030=)
c.1036T>G
c.1263T>G (p.Thr421=)
n.836T>G
c.6285T>G (p.Thr2095=)
c.6276T>G (p.Thr2092=)
c.6267T>G (p.Thr2089=)
c.6153T>G (p.Thr2051=)
c.4137T>G (p.Thr1379=)
c.1827T>G (p.Thr609=)
n.6526T>G
 gnomAD v4
18g.23903065T=CA2290323956LAMA3c.1431T= (p.Thr477=)
c.6258T= (p.Thr2086=)
c.3150T= (p.Thr1050=)
c.6090T= (p.Thr2030=)
c.1036T=
c.1263T= (p.Thr421=)
n.836T=
c.6285T= (p.Thr2095=)
c.6276T= (p.Thr2092=)
c.6267T= (p.Thr2089=)
c.6153T= (p.Thr2051=)
c.4137T= (p.Thr1379=)
c.1827T= (p.Thr609=)
n.6526T=
18g.23903066G>ACA402049292LAMA3c.1432G>A (p.Ala478Thr)
c.6259G>A (p.Ala2087Thr)
c.3151G>A (p.Ala1051Thr)
c.6091G>A (p.Ala2031Thr)
c.1037G>A
c.1264G>A (p.Ala422Thr)
n.837G>A
c.6286G>A (p.Ala2096Thr)
c.6277G>A (p.Ala2093Thr)
c.6268G>A (p.Ala2090Thr)
c.6154G>A (p.Ala2052Thr)
c.4138G>A (p.Ala1380Thr)
c.1828G>A (p.Ala610Thr)
n.6527G>A
 dbSNP gnomAD v4
18g.23903066G>CCA402049294LAMA3c.1432G>C (p.Ala478Pro)
c.6259G>C (p.Ala2087Pro)
c.3151G>C (p.Ala1051Pro)
c.6091G>C (p.Ala2031Pro)
c.1037G>C
c.1264G>C (p.Ala422Pro)
n.837G>C
c.6286G>C (p.Ala2096Pro)
c.6277G>C (p.Ala2093Pro)
c.6268G>C (p.Ala2090Pro)
c.6154G>C (p.Ala2052Pro)
c.4138G>C (p.Ala1380Pro)
c.1828G>C (p.Ala610Pro)
n.6527G>C
18g.23903066G=CA2290323959LAMA3c.1432G= (p.Ala478=)
c.6259G= (p.Ala2087=)
c.3151G= (p.Ala1051=)
c.6091G= (p.Ala2031=)
c.1037G=
c.1264G= (p.Ala422=)
n.837G=
c.6286G= (p.Ala2096=)
c.6277G= (p.Ala2093=)
c.6268G= (p.Ala2090=)
c.6154G= (p.Ala2052=)
c.4138G= (p.Ala1380=)
c.1828G= (p.Ala610=)
n.6527G=
18g.23903066G>TCA402049296LAMA3c.1432G>T (p.Ala478Ser)
c.6259G>T (p.Ala2087Ser)
c.3151G>T (p.Ala1051Ser)
c.6091G>T (p.Ala2031Ser)
c.1037G>T
c.1264G>T (p.Ala422Ser)
n.837G>T
c.6286G>T (p.Ala2096Ser)
c.6277G>T (p.Ala2093Ser)
c.6268G>T (p.Ala2090Ser)
c.6154G>T (p.Ala2052Ser)
c.4138G>T (p.Ala1380Ser)
c.1828G>T (p.Ala610Ser)
n.6527G>T
18g.23903067C>ACA402049300LAMA3c.1433C>A (p.Ala478Glu)
c.6260C>A (p.Ala2087Glu)
c.3152C>A (p.Ala1051Glu)
c.6092C>A (p.Ala2031Glu)
c.1038C>A
c.1265C>A (p.Ala422Glu)
n.838C>A
c.6287C>A (p.Ala2096Glu)
c.6278C>A (p.Ala2093Glu)
c.6269C>A (p.Ala2090Glu)
c.6155C>A (p.Ala2052Glu)
c.4139C>A (p.Ala1380Glu)
c.1829C>A (p.Ala610Glu)
n.6528C>A
 gnomAD v4
18g.23903067C>GCA402049302LAMA3c.1433C>G (p.Ala478Gly)
c.6260C>G (p.Ala2087Gly)
c.3152C>G (p.Ala1051Gly)
c.6092C>G (p.Ala2031Gly)
c.1038C>G
c.1265C>G (p.Ala422Gly)
n.838C>G
c.6287C>G (p.Ala2096Gly)
c.6278C>G (p.Ala2093Gly)
c.6269C>G (p.Ala2090Gly)
c.6155C>G (p.Ala2052Gly)
c.4139C>G (p.Ala1380Gly)
c.1829C>G (p.Ala610Gly)
n.6528C>G
18g.23903067C>TCA402049305LAMA3c.1433C>T (p.Ala478Val)
c.6260C>T (p.Ala2087Val)
c.3152C>T (p.Ala1051Val)
c.6092C>T (p.Ala2031Val)
c.1038C>T
c.1265C>T (p.Ala422Val)
n.838C>T
c.6287C>T (p.Ala2096Val)
c.6278C>T (p.Ala2093Val)
c.6269C>T (p.Ala2090Val)
c.6155C>T (p.Ala2052Val)
c.4139C>T (p.Ala1380Val)
c.1829C>T (p.Ala610Val)
n.6528C>T
18g.23903068A>CCA503334952LAMA3c.1434A>C (p.Ala478=)
c.6261A>C (p.Ala2087=)
c.3153A>C (p.Ala1051=)
c.6093A>C (p.Ala2031=)
c.1039A>C
c.1266A>C (p.Ala422=)
n.839A>C
c.6288A>C (p.Ala2096=)
c.6279A>C (p.Ala2093=)
c.6270A>C (p.Ala2090=)
c.6156A>C (p.Ala2052=)
c.4140A>C (p.Ala1380=)
c.1830A>C (p.Ala610=)
n.6529A>C
18g.23903068A>GCA503334954LAMA3c.1434A>G (p.Ala478=)
c.6261A>G (p.Ala2087=)
c.3153A>G (p.Ala1051=)
c.6093A>G (p.Ala2031=)
c.1039A>G
c.1266A>G (p.Ala422=)
n.839A>G
c.6288A>G (p.Ala2096=)
c.6279A>G (p.Ala2093=)
c.6270A>G (p.Ala2090=)
c.6156A>G (p.Ala2052=)
c.4140A>G (p.Ala1380=)
c.1830A>G (p.Ala610=)
n.6529A>G
18g.23903068A>TCA503334955LAMA3c.1434A>T (p.Ala478=)
c.6261A>T (p.Ala2087=)
c.3153A>T (p.Ala1051=)
c.6093A>T (p.Ala2031=)
c.1039A>T
c.1266A>T (p.Ala422=)
n.839A>T
c.6288A>T (p.Ala2096=)
c.6279A>T (p.Ala2093=)
c.6270A>T (p.Ala2090=)
c.6156A>T (p.Ala2052=)
c.4140A>T (p.Ala1380=)
c.1830A>T (p.Ala610=)
n.6529A>T
18g.23903069G>ACA8916319LAMA3c.1435G>A (p.Asp479Asn)
c.6262G>A (p.Asp2088Asn)
c.3154G>A (p.Asp1052Asn)
c.6094G>A (p.Asp2032Asn)
c.1040G>A
c.1267G>A (p.Asp423Asn)
n.840G>A
c.6289G>A (p.Asp2097Asn)
c.6280G>A (p.Asp2094Asn)
c.6271G>A (p.Asp2091Asn)
c.6157G>A (p.Asp2053Asn)
c.4141G>A (p.Asp1381Asn)
c.1831G>A (p.Asp611Asn)
n.6530G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23903069G>CCA402049308LAMA3c.1435G>C (p.Asp479His)
c.6262G>C (p.Asp2088His)
c.3154G>C (p.Asp1052His)
c.6094G>C (p.Asp2032His)
c.1040G>C
c.1267G>C (p.Asp423His)
n.840G>C
c.6289G>C (p.Asp2097His)
c.6280G>C (p.Asp2094His)
c.6271G>C (p.Asp2091His)
c.6157G>C (p.Asp2053His)
c.4141G>C (p.Asp1381His)
c.1831G>C (p.Asp611His)
n.6530G>C
18g.23903069G=CA2290323963LAMA3c.1435G= (p.Asp479=)
c.6262G= (p.Asp2088=)
c.3154G= (p.Asp1052=)
c.6094G= (p.Asp2032=)
c.1040G=
c.1267G= (p.Asp423=)
n.840G=
c.6289G= (p.Asp2097=)
c.6280G= (p.Asp2094=)
c.6271G= (p.Asp2091=)
c.6157G= (p.Asp2053=)
c.4141G= (p.Asp1381=)
c.1831G= (p.Asp611=)
n.6530G=
18g.23903069G>TCA402049311LAMA3c.1435G>T (p.Asp479Tyr)
c.6262G>T (p.Asp2088Tyr)
c.3154G>T (p.Asp1052Tyr)
c.6094G>T (p.Asp2032Tyr)
c.1040G>T
c.1267G>T (p.Asp423Tyr)
n.840G>T
c.6289G>T (p.Asp2097Tyr)
c.6280G>T (p.Asp2094Tyr)
c.6271G>T (p.Asp2091Tyr)
c.6157G>T (p.Asp2053Tyr)
c.4141G>T (p.Asp1381Tyr)
c.1831G>T (p.Asp611Tyr)
n.6530G>T
 gnomAD v4
18g.23903070A=CA2290323966LAMA3c.1436A= (p.Asp479=)
c.6263A= (p.Asp2088=)
c.3155A= (p.Asp1052=)
c.6095A= (p.Asp2032=)
c.1041A=
c.1268A= (p.Asp423=)
n.841A=
c.6290A= (p.Asp2097=)
c.6281A= (p.Asp2094=)
c.6272A= (p.Asp2091=)
c.6158A= (p.Asp2053=)
c.4142A= (p.Asp1381=)
c.1832A= (p.Asp611=)
n.6531A=
18g.23903070A>CCA402049314LAMA3c.1436A>C (p.Asp479Ala)
c.6263A>C (p.Asp2088Ala)
c.3155A>C (p.Asp1052Ala)
c.6095A>C (p.Asp2032Ala)
c.1041A>C
c.1268A>C (p.Asp423Ala)
n.841A>C
c.6290A>C (p.Asp2097Ala)
c.6281A>C (p.Asp2094Ala)
c.6272A>C (p.Asp2091Ala)
c.6158A>C (p.Asp2053Ala)
c.4142A>C (p.Asp1381Ala)
c.1832A>C (p.Asp611Ala)
n.6531A>C
18g.23903070A>GCA402049318LAMA3c.1436A>G (p.Asp479Gly)
c.6263A>G (p.Asp2088Gly)
c.3155A>G (p.Asp1052Gly)
c.6095A>G (p.Asp2032Gly)
c.1041A>G
c.1268A>G (p.Asp423Gly)
n.841A>G
c.6290A>G (p.Asp2097Gly)
c.6281A>G (p.Asp2094Gly)
c.6272A>G (p.Asp2091Gly)
c.6158A>G (p.Asp2053Gly)
c.4142A>G (p.Asp1381Gly)
c.1832A>G (p.Asp611Gly)
n.6531A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.23903070A>TCA402049321LAMA3c.1436A>T (p.Asp479Val)
c.6263A>T (p.Asp2088Val)
c.3155A>T (p.Asp1052Val)
c.6095A>T (p.Asp2032Val)
c.1041A>T
c.1268A>T (p.Asp423Val)
n.841A>T
c.6290A>T (p.Asp2097Val)
c.6281A>T (p.Asp2094Val)
c.6272A>T (p.Asp2091Val)
c.6158A>T (p.Asp2053Val)
c.4142A>T (p.Asp1381Val)
c.1832A>T (p.Asp611Val)
n.6531A>T
18g.23903071C>ACA402049325LAMA3c.1437C>A (p.Asp479Glu)
c.6264C>A (p.Asp2088Glu)
c.3156C>A (p.Asp1052Glu)
c.6096C>A (p.Asp2032Glu)
c.1042C>A
c.1269C>A (p.Asp423Glu)
n.842C>A
c.6291C>A (p.Asp2097Glu)
c.6282C>A (p.Asp2094Glu)
c.6273C>A (p.Asp2091Glu)
c.6159C>A (p.Asp2053Glu)
c.4143C>A (p.Asp1381Glu)
c.1833C>A (p.Asp611Glu)
n.6532C>A
18g.23903071C>GCA402049327LAMA3c.1437C>G (p.Asp479Glu)
c.6264C>G (p.Asp2088Glu)
c.3156C>G (p.Asp1052Glu)
c.6096C>G (p.Asp2032Glu)
c.1042C>G
c.1269C>G (p.Asp423Glu)
n.842C>G
c.6291C>G (p.Asp2097Glu)
c.6282C>G (p.Asp2094Glu)
c.6273C>G (p.Asp2091Glu)
c.6159C>G (p.Asp2053Glu)
c.4143C>G (p.Asp1381Glu)
c.1833C>G (p.Asp611Glu)
n.6532C>G
18g.23903071C>TCA503334961LAMA3c.1437C>T (p.Asp479=)
c.6264C>T (p.Asp2088=)
c.3156C>T (p.Asp1052=)
c.6096C>T (p.Asp2032=)
c.1042C>T
c.1269C>T (p.Asp423=)
n.842C>T
c.6291C>T (p.Asp2097=)
c.6282C>T (p.Asp2094=)
c.6273C>T (p.Asp2091=)
c.6159C>T (p.Asp2053=)
c.4143C>T (p.Asp1381=)
c.1833C>T (p.Asp611=)
n.6532C>T
18g.23903072T>ACA402049330LAMA3c.1438T>A (p.Ser480Thr)
c.6265T>A (p.Ser2089Thr)
c.3157T>A (p.Ser1053Thr)
c.6097T>A (p.Ser2033Thr)
c.1043T>A
c.1270T>A (p.Ser424Thr)
n.843T>A
c.6292T>A (p.Ser2098Thr)
c.6283T>A (p.Ser2095Thr)
c.6274T>A (p.Ser2092Thr)
c.6160T>A (p.Ser2054Thr)
c.4144T>A (p.Ser1382Thr)
c.1834T>A (p.Ser612Thr)
n.6533T>A
18g.23903072T>CCA402049333LAMA3c.1438T>C (p.Ser480Pro)
c.6265T>C (p.Ser2089Pro)
c.3157T>C (p.Ser1053Pro)
c.6097T>C (p.Ser2033Pro)
c.1043T>C
c.1270T>C (p.Ser424Pro)
n.843T>C
c.6292T>C (p.Ser2098Pro)
c.6283T>C (p.Ser2095Pro)
c.6274T>C (p.Ser2092Pro)
c.6160T>C (p.Ser2054Pro)
c.4144T>C (p.Ser1382Pro)
c.1834T>C (p.Ser612Pro)
n.6533T>C
18g.23903072T>GCA402049336LAMA3c.1438T>G (p.Ser480Ala)
c.6265T>G (p.Ser2089Ala)
c.3157T>G (p.Ser1053Ala)
c.6097T>G (p.Ser2033Ala)
c.1043T>G
c.1270T>G (p.Ser424Ala)
n.843T>G
c.6292T>G (p.Ser2098Ala)
c.6283T>G (p.Ser2095Ala)
c.6274T>G (p.Ser2092Ala)
c.6160T>G (p.Ser2054Ala)
c.4144T>G (p.Ser1382Ala)
c.1834T>G (p.Ser612Ala)
n.6533T>G
 dbSNP
18g.23903072T=CA2290323970LAMA3c.1438T= (p.Ser480=)
c.6265T= (p.Ser2089=)
c.3157T= (p.Ser1053=)
c.6097T= (p.Ser2033=)
c.1043T=
c.1270T= (p.Ser424=)
n.843T=
c.6292T= (p.Ser2098=)
c.6283T= (p.Ser2095=)
c.6274T= (p.Ser2092=)
c.6160T= (p.Ser2054=)
c.4144T= (p.Ser1382=)
c.1834T= (p.Ser612=)
n.6533T=
18g.23903073C>ACA402049339LAMA3c.1439C>A (p.Ser480Ter)
c.6266C>A (p.Ser2089Ter)
c.3158C>A (p.Ser1053Ter)
c.6098C>A (p.Ser2033Ter)
c.1044C>A
c.1271C>A (p.Ser424Ter)
n.844C>A
c.6293C>A (p.Ser2098Ter)
c.6284C>A (p.Ser2095Ter)
c.6275C>A (p.Ser2092Ter)
c.6161C>A (p.Ser2054Ter)
c.4145C>A (p.Ser1382Ter)
c.1835C>A (p.Ser612Ter)
n.6534C>A
18g.23903073C=CA2290323974LAMA3c.1439C= (p.Ser480=)
c.6266C= (p.Ser2089=)
c.3158C= (p.Ser1053=)
c.6098C= (p.Ser2033=)
c.1044C=
c.1271C= (p.Ser424=)
n.844C=
c.6293C= (p.Ser2098=)
c.6284C= (p.Ser2095=)
c.6275C= (p.Ser2092=)
c.6161C= (p.Ser2054=)
c.4145C= (p.Ser1382=)
c.1835C= (p.Ser612=)
n.6534C=
18g.23903073C>GCA402049341LAMA3c.1439C>G (p.Ser480Ter)
c.6266C>G (p.Ser2089Ter)
c.3158C>G (p.Ser1053Ter)
c.6098C>G (p.Ser2033Ter)
c.1044C>G
c.1271C>G (p.Ser424Ter)
n.844C>G
c.6293C>G (p.Ser2098Ter)
c.6284C>G (p.Ser2095Ter)
c.6275C>G (p.Ser2092Ter)
c.6161C>G (p.Ser2054Ter)
c.4145C>G (p.Ser1382Ter)
c.1835C>G (p.Ser612Ter)
n.6534C>G
 ClinVar dbSNP
18g.23903073C>TCA402049344LAMA3c.1439C>T (p.Ser480Leu)
c.6266C>T (p.Ser2089Leu)
c.3158C>T (p.Ser1053Leu)
c.6098C>T (p.Ser2033Leu)
c.1044C>T
c.1271C>T (p.Ser424Leu)
n.844C>T
c.6293C>T (p.Ser2098Leu)
c.6284C>T (p.Ser2095Leu)
c.6275C>T (p.Ser2092Leu)
c.6161C>T (p.Ser2054Leu)
c.4145C>T (p.Ser1382Leu)
c.1835C>T (p.Ser612Leu)
n.6534C>T
 dbSNP
18g.23903074A>CCA503334967LAMA3c.1440A>C (p.Ser480=)
c.6267A>C (p.Ser2089=)
c.3159A>C (p.Ser1053=)
c.6099A>C (p.Ser2033=)
c.1045A>C
c.1272A>C (p.Ser424=)
n.845A>C
c.6294A>C (p.Ser2098=)
c.6285A>C (p.Ser2095=)
c.6276A>C (p.Ser2092=)
c.6162A>C (p.Ser2054=)
c.4146A>C (p.Ser1382=)
c.1836A>C (p.Ser612=)
n.6535A>C
18g.23903074A>GCA503334968LAMA3c.1440A>G (p.Ser480=)
c.6267A>G (p.Ser2089=)
c.3159A>G (p.Ser1053=)
c.6099A>G (p.Ser2033=)
c.1045A>G
c.1272A>G (p.Ser424=)
n.845A>G
c.6294A>G (p.Ser2098=)
c.6285A>G (p.Ser2095=)
c.6276A>G (p.Ser2092=)
c.6162A>G (p.Ser2054=)
c.4146A>G (p.Ser1382=)
c.1836A>G (p.Ser612=)
n.6535A>G
18g.23903074A>TCA503334970LAMA3c.1440A>T (p.Ser480=)
c.6267A>T (p.Ser2089=)
c.3159A>T (p.Ser1053=)
c.6099A>T (p.Ser2033=)
c.1045A>T
c.1272A>T (p.Ser424=)
n.845A>T
c.6294A>T (p.Ser2098=)
c.6285A>T (p.Ser2095=)
c.6276A>T (p.Ser2092=)
c.6162A>T (p.Ser2054=)
c.4146A>T (p.Ser1382=)
c.1836A>T (p.Ser612=)
n.6535A>T
18g.23903075T>ACA402049347LAMA3c.1441T>A (p.Ser481Thr)
c.6268T>A (p.Ser2090Thr)
c.3160T>A (p.Ser1054Thr)
c.6100T>A (p.Ser2034Thr)
c.1046T>A
c.1273T>A (p.Ser425Thr)
n.846T>A
c.6295T>A (p.Ser2099Thr)
c.6286T>A (p.Ser2096Thr)
c.6277T>A (p.Ser2093Thr)
c.6163T>A (p.Ser2055Thr)
c.4147T>A (p.Ser1383Thr)
c.1837T>A (p.Ser613Thr)
n.6536T>A
 gnomAD v4
18g.23903075T>CCA402049350LAMA3c.1441T>C (p.Ser481Pro)
c.6268T>C (p.Ser2090Pro)
c.3160T>C (p.Ser1054Pro)
c.6100T>C (p.Ser2034Pro)
c.1046T>C
c.1273T>C (p.Ser425Pro)
n.846T>C
c.6295T>C (p.Ser2099Pro)
c.6286T>C (p.Ser2096Pro)
c.6277T>C (p.Ser2093Pro)
c.6163T>C (p.Ser2055Pro)
c.4147T>C (p.Ser1383Pro)
c.1837T>C (p.Ser613Pro)
n.6536T>C
18g.23903075T>GCA402049352LAMA3c.1441T>G (p.Ser481Ala)
c.6268T>G (p.Ser2090Ala)
c.3160T>G (p.Ser1054Ala)
c.6100T>G (p.Ser2034Ala)
c.1046T>G
c.1273T>G (p.Ser425Ala)
n.846T>G
c.6295T>G (p.Ser2099Ala)
c.6286T>G (p.Ser2096Ala)
c.6277T>G (p.Ser2093Ala)
c.6163T>G (p.Ser2055Ala)
c.4147T>G (p.Ser1383Ala)
c.1837T>G (p.Ser613Ala)
n.6536T>G
18g.23903076C>ACA402049355LAMA3c.1442C>A (p.Ser481Tyr)
c.6269C>A (p.Ser2090Tyr)
c.3161C>A (p.Ser1054Tyr)
c.6101C>A (p.Ser2034Tyr)
c.1047C>A
c.1274C>A (p.Ser425Tyr)
n.847C>A
c.6296C>A (p.Ser2099Tyr)
c.6287C>A (p.Ser2096Tyr)
c.6278C>A (p.Ser2093Tyr)
c.6164C>A (p.Ser2055Tyr)
c.4148C>A (p.Ser1383Tyr)
c.1838C>A (p.Ser613Tyr)
n.6537C>A
18g.23903076C>GCA402049357LAMA3c.1442C>G (p.Ser481Cys)
c.6269C>G (p.Ser2090Cys)
c.3161C>G (p.Ser1054Cys)
c.6101C>G (p.Ser2034Cys)
c.1047C>G
c.1274C>G (p.Ser425Cys)
n.847C>G
c.6296C>G (p.Ser2099Cys)
c.6287C>G (p.Ser2096Cys)
c.6278C>G (p.Ser2093Cys)
c.6164C>G (p.Ser2055Cys)
c.4148C>G (p.Ser1383Cys)
c.1838C>G (p.Ser613Cys)
n.6537C>G
18g.23903076C>TCA402049360LAMA3c.1442C>T (p.Ser481Phe)
c.6269C>T (p.Ser2090Phe)
c.3161C>T (p.Ser1054Phe)
c.6101C>T (p.Ser2034Phe)
c.1047C>T
c.1274C>T (p.Ser425Phe)
n.847C>T
c.6296C>T (p.Ser2099Phe)
c.6287C>T (p.Ser2096Phe)
c.6278C>T (p.Ser2093Phe)
c.6164C>T (p.Ser2055Phe)
c.4148C>T (p.Ser1383Phe)
c.1838C>T (p.Ser613Phe)
n.6537C>T
18g.23903077T>ACA503334976LAMA3c.1443T>A (p.Ser481=)
c.6270T>A (p.Ser2090=)
c.3162T>A (p.Ser1054=)
c.6102T>A (p.Ser2034=)
c.1048T>A
c.1275T>A (p.Ser425=)
n.848T>A
c.6297T>A (p.Ser2099=)
c.6288T>A (p.Ser2096=)
c.6279T>A (p.Ser2093=)
c.6165T>A (p.Ser2055=)
c.4149T>A (p.Ser1383=)
c.1839T>A (p.Ser613=)
n.6538T>A
18g.23903077T>CCA503334978LAMA3c.1443T>C (p.Ser481=)
c.6270T>C (p.Ser2090=)
c.3162T>C (p.Ser1054=)
c.6102T>C (p.Ser2034=)
c.1048T>C
c.1275T>C (p.Ser425=)
n.848T>C
c.6297T>C (p.Ser2099=)
c.6288T>C (p.Ser2096=)
c.6279T>C (p.Ser2093=)
c.6165T>C (p.Ser2055=)
c.4149T>C (p.Ser1383=)
c.1839T>C (p.Ser613=)
n.6538T>C
18g.23903077T>GCA503334979LAMA3c.1443T>G (p.Ser481=)
c.6270T>G (p.Ser2090=)
c.3162T>G (p.Ser1054=)
c.6102T>G (p.Ser2034=)
c.1048T>G
c.1275T>G (p.Ser425=)
n.848T>G
c.6297T>G (p.Ser2099=)
c.6288T>G (p.Ser2096=)
c.6279T>G (p.Ser2093=)
c.6165T>G (p.Ser2055=)
c.4149T>G (p.Ser1383=)
c.1839T>G (p.Ser613=)
n.6538T>G
18g.23903078T>ACA402049364LAMA3c.1444T>A (p.Leu482Met)
c.6271T>A (p.Leu2091Met)
c.3163T>A (p.Leu1055Met)
c.6103T>A (p.Leu2035Met)
c.1049T>A
c.1276T>A (p.Leu426Met)
n.849T>A
c.6298T>A (p.Leu2100Met)
c.6289T>A (p.Leu2097Met)
c.6280T>A (p.Leu2094Met)
c.6166T>A (p.Leu2056Met)
c.4150T>A (p.Leu1384Met)
c.1840T>A (p.Leu614Met)
n.6539T>A
18g.23903078T>CCA503334982LAMA3c.1444T>C (p.Leu482=)
c.6271T>C (p.Leu2091=)
c.3163T>C (p.Leu1055=)
c.6103T>C (p.Leu2035=)
c.1049T>C
c.1276T>C (p.Leu426=)
n.849T>C
c.6298T>C (p.Leu2100=)
c.6289T>C (p.Leu2097=)
c.6280T>C (p.Leu2094=)
c.6166T>C (p.Leu2056=)
c.4150T>C (p.Leu1384=)
c.1840T>C (p.Leu614=)
n.6539T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.23903078T>GCA402049362LAMA3c.1444T>G (p.Leu482Val)
c.6271T>G (p.Leu2091Val)
c.3163T>G (p.Leu1055Val)
c.6103T>G (p.Leu2035Val)
c.1049T>G
c.1276T>G (p.Leu426Val)
n.849T>G
c.6298T>G (p.Leu2100Val)
c.6289T>G (p.Leu2097Val)
c.6280T>G (p.Leu2094Val)
c.6166T>G (p.Leu2056Val)
c.4150T>G (p.Leu1384Val)
c.1840T>G (p.Leu614Val)
n.6539T>G
 gnomAD v4
18g.23903078T=CA2290323979LAMA3c.1444T= (p.Leu482=)
c.6271T= (p.Leu2091=)
c.3163T= (p.Leu1055=)
c.6103T= (p.Leu2035=)
c.1049T=
c.1276T= (p.Leu426=)
n.849T=
c.6298T= (p.Leu2100=)
c.6289T= (p.Leu2097=)
c.6280T= (p.Leu2094=)
c.6166T= (p.Leu2056=)
c.4150T= (p.Leu1384=)
c.1840T= (p.Leu614=)
n.6539T=
18g.23903079T>ACA402049367LAMA3c.1445T>A (p.Leu482Ter)
c.6272T>A (p.Leu2091Ter)
c.3164T>A (p.Leu1055Ter)
c.6104T>A (p.Leu2035Ter)
c.1050T>A
c.1277T>A (p.Leu426Ter)
n.850T>A
c.6299T>A (p.Leu2100Ter)
c.6290T>A (p.Leu2097Ter)
c.6281T>A (p.Leu2094Ter)
c.6167T>A (p.Leu2056Ter)
c.4151T>A (p.Leu1384Ter)
c.1841T>A (p.Leu614Ter)
n.6540T>A
18g.23903079T>CCA402049370LAMA3c.1445T>C (p.Leu482Ser)
c.6272T>C (p.Leu2091Ser)
c.3164T>C (p.Leu1055Ser)
c.6104T>C (p.Leu2035Ser)
c.1050T>C
c.1277T>C (p.Leu426Ser)
n.850T>C
c.6299T>C (p.Leu2100Ser)
c.6290T>C (p.Leu2097Ser)
c.6281T>C (p.Leu2094Ser)
c.6167T>C (p.Leu2056Ser)
c.4151T>C (p.Leu1384Ser)
c.1841T>C (p.Leu614Ser)
n.6540T>C
18g.23903079T>GCA402049373LAMA3c.1445T>G (p.Leu482Trp)
c.6272T>G (p.Leu2091Trp)
c.3164T>G (p.Leu1055Trp)
c.6104T>G (p.Leu2035Trp)
c.1050T>G
c.1277T>G (p.Leu426Trp)
n.850T>G
c.6299T>G (p.Leu2100Trp)
c.6290T>G (p.Leu2097Trp)
c.6281T>G (p.Leu2094Trp)
c.6167T>G (p.Leu2056Trp)
c.4151T>G (p.Leu1384Trp)
c.1841T>G (p.Leu614Trp)
n.6540T>G
18g.23903080G>ACA503334987LAMA3c.1446G>A (p.Leu482=)
c.6273G>A (p.Leu2091=)
c.3165G>A (p.Leu1055=)
c.6105G>A (p.Leu2035=)
c.1051G>A
c.1278G>A (p.Leu426=)
n.851G>A
c.6300G>A (p.Leu2100=)
c.6291G>A (p.Leu2097=)
c.6282G>A (p.Leu2094=)
c.6168G>A (p.Leu2056=)
c.4152G>A (p.Leu1384=)
c.1842G>A (p.Leu614=)
n.6541G>A
 gnomAD v4
18g.23903080G>CCA402049377LAMA3c.1446G>C (p.Leu482Phe)
c.6273G>C (p.Leu2091Phe)
c.3165G>C (p.Leu1055Phe)
c.6105G>C (p.Leu2035Phe)
c.1051G>C
c.1278G>C (p.Leu426Phe)
n.851G>C
c.6300G>C (p.Leu2100Phe)
c.6291G>C (p.Leu2097Phe)
c.6282G>C (p.Leu2094Phe)
c.6168G>C (p.Leu2056Phe)
c.4152G>C (p.Leu1384Phe)
c.1842G>C (p.Leu614Phe)
n.6541G>C
18g.23903080G>TCA402049379LAMA3c.1446G>T (p.Leu482Phe)
c.6273G>T (p.Leu2091Phe)
c.3165G>T (p.Leu1055Phe)
c.6105G>T (p.Leu2035Phe)
c.1051G>T
c.1278G>T (p.Leu426Phe)
n.851G>T
c.6300G>T (p.Leu2100Phe)
c.6291G>T (p.Leu2097Phe)
c.6282G>T (p.Leu2094Phe)
c.6168G>T (p.Leu2056Phe)
c.4152G>T (p.Leu1384Phe)
c.1842G>T (p.Leu614Phe)
n.6541G>T
 gnomAD v4
18g.23903081T>ACA402049382LAMA3c.1447T>A (p.Leu483Met)
c.6274T>A (p.Leu2092Met)
c.3166T>A (p.Leu1056Met)
c.6106T>A (p.Leu2036Met)
c.1052T>A
c.1279T>A (p.Leu427Met)
n.852T>A
c.6301T>A (p.Leu2101Met)
c.6292T>A (p.Leu2098Met)
c.6283T>A (p.Leu2095Met)
c.6169T>A (p.Leu2057Met)
c.4153T>A (p.Leu1385Met)
c.1843T>A (p.Leu615Met)
n.6542T>A
18g.23903081T>CCA503334990LAMA3c.1447T>C (p.Leu483=)
c.6274T>C (p.Leu2092=)
c.3166T>C (p.Leu1056=)
c.6106T>C (p.Leu2036=)
c.1052T>C
c.1279T>C (p.Leu427=)
n.852T>C
c.6301T>C (p.Leu2101=)
c.6292T>C (p.Leu2098=)
c.6283T>C (p.Leu2095=)
c.6169T>C (p.Leu2057=)
c.4153T>C (p.Leu1385=)
c.1843T>C (p.Leu615=)
n.6542T>C
 ClinVar dbSNP gnomAD v4
18g.23903081T>GCA402049384LAMA3c.1447T>G (p.Leu483Val)
c.6274T>G (p.Leu2092Val)
c.3166T>G (p.Leu1056Val)
c.6106T>G (p.Leu2036Val)
c.1052T>G
c.1279T>G (p.Leu427Val)
n.852T>G
c.6301T>G (p.Leu2101Val)
c.6292T>G (p.Leu2098Val)
c.6283T>G (p.Leu2095Val)
c.6169T>G (p.Leu2057Val)
c.4153T>G (p.Leu1385Val)
c.1843T>G (p.Leu615Val)
n.6542T>G
18g.23903082T>ACA402049394LAMA3c.1448T>A (p.Leu483Ter)
c.6275T>A (p.Leu2092Ter)
c.3167T>A (p.Leu1056Ter)
c.6107T>A (p.Leu2036Ter)
c.1053T>A
c.1280T>A (p.Leu427Ter)
n.853T>A
c.6302T>A (p.Leu2101Ter)
c.6293T>A (p.Leu2098Ter)
c.6284T>A (p.Leu2095Ter)
c.6170T>A (p.Leu2057Ter)
c.4154T>A (p.Leu1385Ter)
c.1844T>A (p.Leu615Ter)
n.6543T>A
18g.23903082T>CCA402049389LAMA3c.1448T>C (p.Leu483Ser)
c.6275T>C (p.Leu2092Ser)
c.3167T>C (p.Leu1056Ser)
c.6107T>C (p.Leu2036Ser)
c.1053T>C
c.1280T>C (p.Leu427Ser)
n.853T>C
c.6302T>C (p.Leu2101Ser)
c.6293T>C (p.Leu2098Ser)
c.6284T>C (p.Leu2095Ser)
c.6170T>C (p.Leu2057Ser)
c.4154T>C (p.Leu1385Ser)
c.1844T>C (p.Leu615Ser)
n.6543T>C
18g.23903082T>GCA402049391LAMA3c.1448T>G (p.Leu483Trp)
c.6275T>G (p.Leu2092Trp)
c.3167T>G (p.Leu1056Trp)
c.6107T>G (p.Leu2036Trp)
c.1053T>G
c.1280T>G (p.Leu427Trp)
n.853T>G
c.6302T>G (p.Leu2101Trp)
c.6293T>G (p.Leu2098Trp)
c.6284T>G (p.Leu2095Trp)
c.6170T>G (p.Leu2057Trp)
c.4154T>G (p.Leu1385Trp)
c.1844T>G (p.Leu615Trp)
n.6543T>G
18g.23903083G>ACA503334992LAMA3c.1449G>A (p.Leu483=)
c.6276G>A (p.Leu2092=)
c.3168G>A (p.Leu1056=)
c.6108G>A (p.Leu2036=)
c.1054G>A
c.1281G>A (p.Leu427=)
n.854G>A
c.6303G>A (p.Leu2101=)
c.6294G>A (p.Leu2098=)
c.6285G>A (p.Leu2095=)
c.6171G>A (p.Leu2057=)
c.4155G>A (p.Leu1385=)
c.1845G>A (p.Leu615=)
n.6544G>A
 ClinVar dbSNP gnomAD v4
18g.23903083G>CCA402049397LAMA3c.1449G>C (p.Leu483Phe)
c.6276G>C (p.Leu2092Phe)
c.3168G>C (p.Leu1056Phe)
c.6108G>C (p.Leu2036Phe)
c.1054G>C
c.1281G>C (p.Leu427Phe)
n.854G>C
c.6303G>C (p.Leu2101Phe)
c.6294G>C (p.Leu2098Phe)
c.6285G>C (p.Leu2095Phe)
c.6171G>C (p.Leu2057Phe)
c.4155G>C (p.Leu1385Phe)
c.1845G>C (p.Leu615Phe)
n.6544G>C
18g.23903083G=CA2290323984LAMA3c.1449G= (p.Leu483=)
c.6276G= (p.Leu2092=)
c.3168G= (p.Leu1056=)
c.6108G= (p.Leu2036=)
c.1054G=
c.1281G= (p.Leu427=)
n.854G=
c.6303G= (p.Leu2101=)
c.6294G= (p.Leu2098=)
c.6285G= (p.Leu2095=)
c.6171G= (p.Leu2057=)
c.4155G= (p.Leu1385=)
c.1845G= (p.Leu615=)
n.6544G=
18g.23903083G>TCA402049400LAMA3c.1449G>T (p.Leu483Phe)
c.6276G>T (p.Leu2092Phe)
c.3168G>T (p.Leu1056Phe)
c.6108G>T (p.Leu2036Phe)
c.1054G>T
c.1281G>T (p.Leu427Phe)
n.854G>T
c.6303G>T (p.Leu2101Phe)
c.6294G>T (p.Leu2098Phe)
c.6285G>T (p.Leu2095Phe)
c.6171G>T (p.Leu2057Phe)
c.4155G>T (p.Leu1385Phe)
c.1845G>T (p.Leu615Phe)
n.6544G>T
18g.23903084C>ACA402049404LAMA3c.1450C>A (p.Gln484Lys)
c.6277C>A (p.Gln2093Lys)
c.3169C>A (p.Gln1057Lys)
c.6109C>A (p.Gln2037Lys)
c.1055C>A
c.1282C>A (p.Gln428Lys)
n.855C>A
c.6304C>A (p.Gln2102Lys)
c.6295C>A (p.Gln2099Lys)
c.6286C>A (p.Gln2096Lys)
c.6172C>A (p.Gln2058Lys)
c.4156C>A (p.Gln1386Lys)
c.1846C>A (p.Gln616Lys)
n.6545C>A
 gnomAD v4
18g.23903084C>GCA402049407LAMA3c.1450C>G (p.Gln484Glu)
c.6277C>G (p.Gln2093Glu)
c.3169C>G (p.Gln1057Glu)
c.6109C>G (p.Gln2037Glu)
c.1055C>G
c.1282C>G (p.Gln428Glu)
n.855C>G
c.6304C>G (p.Gln2102Glu)
c.6295C>G (p.Gln2099Glu)
c.6286C>G (p.Gln2096Glu)
c.6172C>G (p.Gln2058Glu)
c.4156C>G (p.Gln1386Glu)
c.1846C>G (p.Gln616Glu)
n.6545C>G
18g.23903084C>TCA402049410LAMA3c.1450C>T (p.Gln484Ter)
c.6277C>T (p.Gln2093Ter)
c.3169C>T (p.Gln1057Ter)
c.6109C>T (p.Gln2037Ter)
c.1055C>T
c.1282C>T (p.Gln428Ter)
n.855C>T
c.6304C>T (p.Gln2102Ter)
c.6295C>T (p.Gln2099Ter)
c.6286C>T (p.Gln2096Ter)
c.6172C>T (p.Gln2058Ter)
c.4156C>T (p.Gln1386Ter)
c.1846C>T (p.Gln616Ter)
n.6545C>T
18g.23903085A>CCA402049415LAMA3c.1451A>C (p.Gln484Pro)
c.6278A>C (p.Gln2093Pro)
c.3170A>C (p.Gln1057Pro)
c.6110A>C (p.Gln2037Pro)
c.1056A>C
c.1283A>C (p.Gln428Pro)
n.856A>C
c.6305A>C (p.Gln2102Pro)
c.6296A>C (p.Gln2099Pro)
c.6287A>C (p.Gln2096Pro)
c.6173A>C (p.Gln2058Pro)
c.4157A>C (p.Gln1386Pro)
c.1847A>C (p.Gln616Pro)
n.6546A>C
 gnomAD v4
18g.23903085A>GCA402049418LAMA3c.1451A>G (p.Gln484Arg)
c.6278A>G (p.Gln2093Arg)
c.3170A>G (p.Gln1057Arg)
c.6110A>G (p.Gln2037Arg)
c.1056A>G
c.1283A>G (p.Gln428Arg)
n.856A>G
c.6305A>G (p.Gln2102Arg)
c.6296A>G (p.Gln2099Arg)
c.6287A>G (p.Gln2096Arg)
c.6173A>G (p.Gln2058Arg)
c.4157A>G (p.Gln1386Arg)
c.1847A>G (p.Gln616Arg)
n.6546A>G
18g.23903085A>TCA402049416LAMA3c.1451A>T (p.Gln484Leu)
c.6278A>T (p.Gln2093Leu)
c.3170A>T (p.Gln1057Leu)
c.6110A>T (p.Gln2037Leu)
c.1056A>T
c.1283A>T (p.Gln428Leu)
n.856A>T
c.6305A>T (p.Gln2102Leu)
c.6296A>T (p.Gln2099Leu)
c.6287A>T (p.Gln2096Leu)
c.6173A>T (p.Gln2058Leu)
c.4157A>T (p.Gln1386Leu)
c.1847A>T (p.Gln616Leu)
n.6546A>T
18g.23903086A=CA2290323989LAMA3c.1452A= (p.Gln484=)
c.6279A= (p.Gln2093=)
c.3171A= (p.Gln1057=)
c.6111A= (p.Gln2037=)
c.1057A=
c.1284A= (p.Gln428=)
n.857A=
c.6306A= (p.Gln2102=)
c.6297A= (p.Gln2099=)
c.6288A= (p.Gln2096=)
c.6174A= (p.Gln2058=)
c.4158A= (p.Gln1386=)
c.1848A= (p.Gln616=)
n.6547A=
18g.23903086A>CCA402049421LAMA3c.1452A>C (p.Gln484His)
c.6279A>C (p.Gln2093His)
c.3171A>C (p.Gln1057His)
c.6111A>C (p.Gln2037His)
c.1057A>C
c.1284A>C (p.Gln428His)
n.857A>C
c.6306A>C (p.Gln2102His)
c.6297A>C (p.Gln2099His)
c.6288A>C (p.Gln2096His)
c.6174A>C (p.Gln2058His)
c.4158A>C (p.Gln1386His)
c.1848A>C (p.Gln616His)
n.6547A>C
 gnomAD v4
18g.23903086A>GCA503334994LAMA3c.1452A>G (p.Gln484=)
c.6279A>G (p.Gln2093=)
c.3171A>G (p.Gln1057=)
c.6111A>G (p.Gln2037=)
c.1057A>G
c.1284A>G (p.Gln428=)
n.857A>G
c.6306A>G (p.Gln2102=)
c.6297A>G (p.Gln2099=)
c.6288A>G (p.Gln2096=)
c.6174A>G (p.Gln2058=)
c.4158A>G (p.Gln1386=)
c.1848A>G (p.Gln616=)
n.6547A>G
18g.23903086A>TCA8916320LAMA3c.1452A>T (p.Gln484His)
c.6279A>T (p.Gln2093His)
c.3171A>T (p.Gln1057His)
c.6111A>T (p.Gln2037His)
c.1057A>T
c.1284A>T (p.Gln428His)
n.857A>T
c.6306A>T (p.Gln2102His)
c.6297A>T (p.Gln2099His)
c.6288A>T (p.Gln2096His)
c.6174A>T (p.Gln2058His)
c.4158A>T (p.Gln1386His)
c.1848A>T (p.Gln616His)
n.6547A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23903087A=CA2290323992LAMA3c.1453A= (p.Thr485=)
c.6280A= (p.Thr2094=)
c.3172A= (p.Thr1058=)
c.6112A= (p.Thr2038=)
c.1058A=
c.1285A= (p.Thr429=)
n.858A=
c.6307A= (p.Thr2103=)
c.6298A= (p.Thr2100=)
c.6289A= (p.Thr2097=)
c.6175A= (p.Thr2059=)
c.4159A= (p.Thr1387=)
c.1849A= (p.Thr617=)
n.6548A=
18g.23903087A>CCA402049425LAMA3c.1453A>C (p.Thr485Pro)
c.6280A>C (p.Thr2094Pro)
c.3172A>C (p.Thr1058Pro)
c.6112A>C (p.Thr2038Pro)
c.1058A>C
c.1285A>C (p.Thr429Pro)
n.858A>C
c.6307A>C (p.Thr2103Pro)
c.6298A>C (p.Thr2100Pro)
c.6289A>C (p.Thr2097Pro)
c.6175A>C (p.Thr2059Pro)
c.4159A>C (p.Thr1387Pro)
c.1849A>C (p.Thr617Pro)
n.6548A>C
18g.23903087A>GCA8916321LAMA3c.1453A>G (p.Thr485Ala)
c.6280A>G (p.Thr2094Ala)
c.3172A>G (p.Thr1058Ala)
c.6112A>G (p.Thr2038Ala)
c.1058A>G
c.1285A>G (p.Thr429Ala)
n.858A>G
c.6307A>G (p.Thr2103Ala)
c.6298A>G (p.Thr2100Ala)
c.6289A>G (p.Thr2097Ala)
c.6175A>G (p.Thr2059Ala)
c.4159A>G (p.Thr1387Ala)
c.1849A>G (p.Thr617Ala)
n.6548A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23903087A>TCA402049429LAMA3c.1453A>T (p.Thr485Ser)
c.6280A>T (p.Thr2094Ser)
c.3172A>T (p.Thr1058Ser)
c.6112A>T (p.Thr2038Ser)
c.1058A>T
c.1285A>T (p.Thr429Ser)
n.858A>T
c.6307A>T (p.Thr2103Ser)
c.6298A>T (p.Thr2100Ser)
c.6289A>T (p.Thr2097Ser)
c.6175A>T (p.Thr2059Ser)
c.4159A>T (p.Thr1387Ser)
c.1849A>T (p.Thr617Ser)
n.6548A>T
18g.23903088C>ACA402049433LAMA3c.1454C>A (p.Thr485Asn)
c.6281C>A (p.Thr2094Asn)
c.3173C>A (p.Thr1058Asn)
c.6113C>A (p.Thr2038Asn)
c.1059C>A
c.1286C>A (p.Thr429Asn)
n.859C>A
c.6308C>A (p.Thr2103Asn)
c.6299C>A (p.Thr2100Asn)
c.6290C>A (p.Thr2097Asn)
c.6176C>A (p.Thr2059Asn)
c.4160C>A (p.Thr1387Asn)
c.1850C>A (p.Thr617Asn)
n.6549C>A
 ClinVar dbSNP
18g.23903088C>GCA402049436LAMA3c.1454C>G (p.Thr485Ser)
c.6281C>G (p.Thr2094Ser)
c.3173C>G (p.Thr1058Ser)
c.6113C>G (p.Thr2038Ser)
c.1059C>G
c.1286C>G (p.Thr429Ser)
n.859C>G
c.6308C>G (p.Thr2103Ser)
c.6299C>G (p.Thr2100Ser)
c.6290C>G (p.Thr2097Ser)
c.6176C>G (p.Thr2059Ser)
c.4160C>G (p.Thr1387Ser)
c.1850C>G (p.Thr617Ser)
n.6549C>G
18g.23903088C>TCA402049440LAMA3c.1454C>T (p.Thr485Ile)
c.6281C>T (p.Thr2094Ile)
c.3173C>T (p.Thr1058Ile)
c.6113C>T (p.Thr2038Ile)
c.1059C>T
c.1286C>T (p.Thr429Ile)
n.859C>T
c.6308C>T (p.Thr2103Ile)
c.6299C>T (p.Thr2100Ile)
c.6290C>T (p.Thr2097Ile)
c.6176C>T (p.Thr2059Ile)
c.4160C>T (p.Thr1387Ile)
c.1850C>T (p.Thr617Ile)
n.6549C>T
18g.23903089C>ACA503334995LAMA3c.1455C>A (p.Thr485=)
c.6282C>A (p.Thr2094=)
c.3174C>A (p.Thr1058=)
c.6114C>A (p.Thr2038=)
c.1060C>A
c.1287C>A (p.Thr429=)
n.860C>A
c.6309C>A (p.Thr2103=)
c.6300C>A (p.Thr2100=)
c.6291C>A (p.Thr2097=)
c.6177C>A (p.Thr2059=)
c.4161C>A (p.Thr1387=)
c.1851C>A (p.Thr617=)
n.6550C>A
18g.23903089C>GCA503334996LAMA3c.1455C>G (p.Thr485=)
c.6282C>G (p.Thr2094=)
c.3174C>G (p.Thr1058=)
c.6114C>G (p.Thr2038=)
c.1060C>G
c.1287C>G (p.Thr429=)
n.860C>G
c.6309C>G (p.Thr2103=)
c.6300C>G (p.Thr2100=)
c.6291C>G (p.Thr2097=)
c.6177C>G (p.Thr2059=)
c.4161C>G (p.Thr1387=)
c.1851C>G (p.Thr617=)
n.6550C>G
18g.23903089C>TCA503334997LAMA3c.1455C>T (p.Thr485=)
c.6282C>T (p.Thr2094=)
c.3174C>T (p.Thr1058=)
c.6114C>T (p.Thr2038=)
c.1060C>T
c.1287C>T (p.Thr429=)
n.860C>T
c.6309C>T (p.Thr2103=)
c.6300C>T (p.Thr2100=)
c.6291C>T (p.Thr2097=)
c.6177C>T (p.Thr2059=)
c.4161C>T (p.Thr1387=)
c.1851C>T (p.Thr617=)
n.6550C>T
18g.23903090A>CCA402049441LAMA3c.1456A>C (p.Asn486His)
c.6283A>C (p.Asn2095His)
c.3175A>C (p.Asn1059His)
c.6115A>C (p.Asn2039His)
c.1061A>C
c.1288A>C (p.Asn430His)
n.861A>C
c.6310A>C (p.Asn2104His)
c.6301A>C (p.Asn2101His)
c.6292A>C (p.Asn2098His)
c.6178A>C (p.Asn2060His)
c.4162A>C (p.Asn1388His)
c.1852A>C (p.Asn618His)
n.6551A>C
18g.23903090A>GCA402049444LAMA3c.1456A>G (p.Asn486Asp)
c.6283A>G (p.Asn2095Asp)
c.3175A>G (p.Asn1059Asp)
c.6115A>G (p.Asn2039Asp)
c.1061A>G
c.1288A>G (p.Asn430Asp)
n.861A>G
c.6310A>G (p.Asn2104Asp)
c.6301A>G (p.Asn2101Asp)
c.6292A>G (p.Asn2098Asp)
c.6178A>G (p.Asn2060Asp)
c.4162A>G (p.Asn1388Asp)
c.1852A>G (p.Asn618Asp)
n.6551A>G
18g.23903090A>TCA402049448LAMA3c.1456A>T (p.Asn486Tyr)
c.6283A>T (p.Asn2095Tyr)
c.3175A>T (p.Asn1059Tyr)
c.6115A>T (p.Asn2039Tyr)
c.1061A>T
c.1288A>T (p.Asn430Tyr)
n.861A>T
c.6310A>T (p.Asn2104Tyr)
c.6301A>T (p.Asn2101Tyr)
c.6292A>T (p.Asn2098Tyr)
c.6178A>T (p.Asn2060Tyr)
c.4162A>T (p.Asn1388Tyr)
c.1852A>T (p.Asn618Tyr)
n.6551A>T
18g.23903091A=CA2290323995LAMA3c.1457A= (p.Asn486=)
c.6284A= (p.Asn2095=)
c.3176A= (p.Asn1059=)
c.6116A= (p.Asn2039=)
c.1062A=
c.1289A= (p.Asn430=)
n.862A=
c.6311A= (p.Asn2104=)
c.6302A= (p.Asn2101=)
c.6293A= (p.Asn2098=)
c.6179A= (p.Asn2060=)
c.4163A= (p.Asn1388=)
c.1853A= (p.Asn618=)
n.6552A=
18g.23903091A>CCA402049452LAMA3c.1457A>C (p.Asn486Thr)
c.6284A>C (p.Asn2095Thr)
c.3176A>C (p.Asn1059Thr)
c.6116A>C (p.Asn2039Thr)
c.1062A>C
c.1289A>C (p.Asn430Thr)
n.862A>C
c.6311A>C (p.Asn2104Thr)
c.6302A>C (p.Asn2101Thr)
c.6293A>C (p.Asn2098Thr)
c.6179A>C (p.Asn2060Thr)
c.4163A>C (p.Asn1388Thr)
c.1853A>C (p.Asn618Thr)
n.6552A>C
18g.23903091A>GCA402049456LAMA3c.1457A>G (p.Asn486Ser)
c.6284A>G (p.Asn2095Ser)
c.3176A>G (p.Asn1059Ser)
c.6116A>G (p.Asn2039Ser)
c.1062A>G
c.1289A>G (p.Asn430Ser)
n.862A>G
c.6311A>G (p.Asn2104Ser)
c.6302A>G (p.Asn2101Ser)
c.6293A>G (p.Asn2098Ser)
c.6179A>G (p.Asn2060Ser)
c.4163A>G (p.Asn1388Ser)
c.1853A>G (p.Asn618Ser)
n.6552A>G
 dbSNP
18g.23903091A>TCA402049455LAMA3c.1457A>T (p.Asn486Ile)
c.6284A>T (p.Asn2095Ile)
c.3176A>T (p.Asn1059Ile)
c.6116A>T (p.Asn2039Ile)
c.1062A>T
c.1289A>T (p.Asn430Ile)
n.862A>T
c.6311A>T (p.Asn2104Ile)
c.6302A>T (p.Asn2101Ile)
c.6293A>T (p.Asn2098Ile)
c.6179A>T (p.Asn2060Ile)
c.4163A>T (p.Asn1388Ile)
c.1853A>T (p.Asn618Ile)
n.6552A>T
18g.23903092C>ACA402049460LAMA3c.1458C>A (p.Asn486Lys)
c.6285C>A (p.Asn2095Lys)
c.3177C>A (p.Asn1059Lys)
c.6117C>A (p.Asn2039Lys)
c.1063C>A
c.1290C>A (p.Asn430Lys)
n.863C>A
c.6312C>A (p.Asn2104Lys)
c.6303C>A (p.Asn2101Lys)
c.6294C>A (p.Asn2098Lys)
c.6180C>A (p.Asn2060Lys)
c.4164C>A (p.Asn1388Lys)
c.1854C>A (p.Asn618Lys)
n.6553C>A
18g.23903092C=CA2290323999LAMA3c.1458C= (p.Asn486=)
c.6285C= (p.Asn2095=)
c.3177C= (p.Asn1059=)
c.6117C= (p.Asn2039=)
c.1063C=
c.1290C= (p.Asn430=)
n.863C=
c.6312C= (p.Asn2104=)
c.6303C= (p.Asn2101=)
c.6294C= (p.Asn2098=)
c.6180C= (p.Asn2060=)
c.4164C= (p.Asn1388=)
c.1854C= (p.Asn618=)
n.6553C=
18g.23903092C>GCA402049464LAMA3c.1458C>G (p.Asn486Lys)
c.6285C>G (p.Asn2095Lys)
c.3177C>G (p.Asn1059Lys)
c.6117C>G (p.Asn2039Lys)
c.1063C>G
c.1290C>G (p.Asn430Lys)
n.863C>G
c.6312C>G (p.Asn2104Lys)
c.6303C>G (p.Asn2101Lys)
c.6294C>G (p.Asn2098Lys)
c.6180C>G (p.Asn2060Lys)
c.4164C>G (p.Asn1388Lys)
c.1854C>G (p.Asn618Lys)
n.6553C>G
18g.23903092C>TCA8916322LAMA3c.1458C>T (p.Asn486=)
c.6285C>T (p.Asn2095=)
c.3177C>T (p.Asn1059=)
c.6117C>T (p.Asn2039=)
c.1063C>T
c.1290C>T (p.Asn430=)
n.863C>T
c.6312C>T (p.Asn2104=)
c.6303C>T (p.Asn2101=)
c.6294C>T (p.Asn2098=)
c.6180C>T (p.Asn2060=)
c.4164C>T (p.Asn1388=)
c.1854C>T (p.Asn618=)
n.6553C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23903093A=CA2290324003LAMA3c.1459A= (p.Ile487=)
c.6286A= (p.Ile2096=)
c.3178A= (p.Ile1060=)
c.6118A= (p.Ile2040=)
c.1064A=
c.1291A= (p.Ile431=)
n.864A=
c.6313A= (p.Ile2105=)
c.6304A= (p.Ile2102=)
c.6295A= (p.Ile2099=)
c.6181A= (p.Ile2061=)
c.4165A= (p.Ile1389=)
c.1855A= (p.Ile619=)
n.6554A=
18g.23903093A>CCA402049467LAMA3c.1459A>C (p.Ile487Leu)
c.6286A>C (p.Ile2096Leu)
c.3178A>C (p.Ile1060Leu)
c.6118A>C (p.Ile2040Leu)
c.1064A>C
c.1291A>C (p.Ile431Leu)
n.864A>C
c.6313A>C (p.Ile2105Leu)
c.6304A>C (p.Ile2102Leu)
c.6295A>C (p.Ile2099Leu)
c.6181A>C (p.Ile2061Leu)
c.4165A>C (p.Ile1389Leu)
c.1855A>C (p.Ile619Leu)
n.6554A>C
18g.23903093A>GCA8916323LAMA3c.1459A>G (p.Ile487Val)
c.6286A>G (p.Ile2096Val)
c.3178A>G (p.Ile1060Val)
c.6118A>G (p.Ile2040Val)
c.1064A>G
c.1291A>G (p.Ile431Val)
n.864A>G
c.6313A>G (p.Ile2105Val)
c.6304A>G (p.Ile2102Val)
c.6295A>G (p.Ile2099Val)
c.6181A>G (p.Ile2061Val)
c.4165A>G (p.Ile1389Val)
c.1855A>G (p.Ile619Val)
n.6554A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23903093A>TCA402049472LAMA3c.1459A>T (p.Ile487Phe)
c.6286A>T (p.Ile2096Phe)
c.3178A>T (p.Ile1060Phe)
c.6118A>T (p.Ile2040Phe)
c.1064A>T
c.1291A>T (p.Ile431Phe)
n.864A>T
c.6313A>T (p.Ile2105Phe)
c.6304A>T (p.Ile2102Phe)
c.6295A>T (p.Ile2099Phe)
c.6181A>T (p.Ile2061Phe)
c.4165A>T (p.Ile1389Phe)
c.1855A>T (p.Ile619Phe)
n.6554A>T
18g.23903094T>ACA402049476LAMA3c.1460T>A (p.Ile487Asn)
c.6287T>A (p.Ile2096Asn)
c.3179T>A (p.Ile1060Asn)
c.6119T>A (p.Ile2040Asn)
c.1065T>A
c.1292T>A (p.Ile431Asn)
n.865T>A
c.6314T>A (p.Ile2105Asn)
c.6305T>A (p.Ile2102Asn)
c.6296T>A (p.Ile2099Asn)
c.6182T>A (p.Ile2061Asn)
c.4166T>A (p.Ile1389Asn)
c.1856T>A (p.Ile619Asn)
n.6555T>A
 dbSNP gnomAD v3 gnomAD v4
18g.23903094T>CCA8916324LAMA3c.1460T>C (p.Ile487Thr)
c.6287T>C (p.Ile2096Thr)
c.3179T>C (p.Ile1060Thr)
c.6119T>C (p.Ile2040Thr)
c.1065T>C
c.1292T>C (p.Ile431Thr)
n.865T>C
c.6314T>C (p.Ile2105Thr)
c.6305T>C (p.Ile2102Thr)
c.6296T>C (p.Ile2099Thr)
c.6182T>C (p.Ile2061Thr)
c.4166T>C (p.Ile1389Thr)
c.1856T>C (p.Ile619Thr)
n.6555T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23903094T>GCA402049479LAMA3c.1460T>G (p.Ile487Ser)
c.6287T>G (p.Ile2096Ser)
c.3179T>G (p.Ile1060Ser)
c.6119T>G (p.Ile2040Ser)
c.1065T>G
c.1292T>G (p.Ile431Ser)
n.865T>G
c.6314T>G (p.Ile2105Ser)
c.6305T>G (p.Ile2102Ser)
c.6296T>G (p.Ile2099Ser)
c.6182T>G (p.Ile2061Ser)
c.4166T>G (p.Ile1389Ser)
c.1856T>G (p.Ile619Ser)
n.6555T>G
18g.23903094T=CA2290324009LAMA3c.1460T= (p.Ile487=)
c.6287T= (p.Ile2096=)
c.3179T= (p.Ile1060=)
c.6119T= (p.Ile2040=)
c.1065T=
c.1292T= (p.Ile431=)
n.865T=
c.6314T= (p.Ile2105=)
c.6305T= (p.Ile2102=)
c.6296T= (p.Ile2099=)
c.6182T= (p.Ile2061=)
c.4166T= (p.Ile1389=)
c.1856T= (p.Ile619=)
n.6555T=
18g.23903095T>ACA503335001LAMA3c.1461T>A (p.Ile487=)
c.6288T>A (p.Ile2096=)
c.3180T>A (p.Ile1060=)
c.6120T>A (p.Ile2040=)
c.1066T>A
c.1293T>A (p.Ile431=)
n.866T>A
c.6315T>A (p.Ile2105=)
c.6306T>A (p.Ile2102=)
c.6297T>A (p.Ile2099=)
c.6183T>A (p.Ile2061=)
c.4167T>A (p.Ile1389=)
c.1857T>A (p.Ile619=)
n.6556T>A
 ClinVar
18g.23903095T>CCA503335002LAMA3c.1461T>C (p.Ile487=)
c.6288T>C (p.Ile2096=)
c.3180T>C (p.Ile1060=)
c.6120T>C (p.Ile2040=)
c.1066T>C
c.1293T>C (p.Ile431=)
n.866T>C
c.6315T>C (p.Ile2105=)
c.6306T>C (p.Ile2102=)
c.6297T>C (p.Ile2099=)
c.6183T>C (p.Ile2061=)
c.4167T>C (p.Ile1389=)
c.1857T>C (p.Ile619=)
n.6556T>C
18g.23903095T>GCA402049483LAMA3c.1461T>G (p.Ile487Met)
c.6288T>G (p.Ile2096Met)
c.3180T>G (p.Ile1060Met)
c.6120T>G (p.Ile2040Met)
c.1066T>G
c.1293T>G (p.Ile431Met)
n.866T>G
c.6315T>G (p.Ile2105Met)
c.6306T>G (p.Ile2102Met)
c.6297T>G (p.Ile2099Met)
c.6183T>G (p.Ile2061Met)
c.4167T>G (p.Ile1389Met)
c.1857T>G (p.Ile619Met)
n.6556T>G
18g.23903096G>ACA402049486LAMA3c.1462G>A (p.Ala488Thr)
c.6289G>A (p.Ala2097Thr)
c.3181G>A (p.Ala1061Thr)
c.6121G>A (p.Ala2041Thr)
c.1067G>A
c.1294G>A (p.Ala432Thr)
n.867G>A
c.6316G>A (p.Ala2106Thr)
c.6307G>A (p.Ala2103Thr)
c.6298G>A (p.Ala2100Thr)
c.6184G>A (p.Ala2062Thr)
c.4168G>A (p.Ala1390Thr)
c.1858G>A (p.Ala620Thr)
n.6557G>A
 gnomAD v4
18g.23903096G>CCA402049489LAMA3c.1462G>C (p.Ala488Pro)
c.6289G>C (p.Ala2097Pro)
c.3181G>C (p.Ala1061Pro)
c.6121G>C (p.Ala2041Pro)
c.1067G>C
c.1294G>C (p.Ala432Pro)
n.867G>C
c.6316G>C (p.Ala2106Pro)
c.6307G>C (p.Ala2103Pro)
c.6298G>C (p.Ala2100Pro)
c.6184G>C (p.Ala2062Pro)
c.4168G>C (p.Ala1390Pro)
c.1858G>C (p.Ala620Pro)
n.6557G>C
18g.23903096G>TCA402049492LAMA3c.1462G>T (p.Ala488Ser)
c.6289G>T (p.Ala2097Ser)
c.3181G>T (p.Ala1061Ser)
c.6121G>T (p.Ala2041Ser)
c.1067G>T
c.1294G>T (p.Ala432Ser)
n.867G>T
c.6316G>T (p.Ala2106Ser)
c.6307G>T (p.Ala2103Ser)
c.6298G>T (p.Ala2100Ser)
c.6184G>T (p.Ala2062Ser)
c.4168G>T (p.Ala1390Ser)
c.1858G>T (p.Ala620Ser)
n.6557G>T
 gnomAD v4
18g.23903097C>ACA8916326LAMA3c.1463C>A (p.Ala488Glu)
c.6290C>A (p.Ala2097Glu)
c.3182C>A (p.Ala1061Glu)
c.6122C>A (p.Ala2041Glu)
c.1068C>A
c.1295C>A (p.Ala432Glu)
n.868C>A
c.6317C>A (p.Ala2106Glu)
c.6308C>A (p.Ala2103Glu)
c.6299C>A (p.Ala2100Glu)
c.6185C>A (p.Ala2062Glu)
c.4169C>A (p.Ala1390Glu)
c.1859C>A (p.Ala620Glu)
n.6558C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23903097C=CA2290324018LAMA3c.1463C= (p.Ala488=)
c.6290C= (p.Ala2097=)
c.3182C= (p.Ala1061=)
c.6122C= (p.Ala2041=)
c.1068C=
c.1295C= (p.Ala432=)
n.868C=
c.6317C= (p.Ala2106=)
c.6308C= (p.Ala2103=)
c.6299C= (p.Ala2100=)
c.6185C= (p.Ala2062=)
c.4169C= (p.Ala1390=)
c.1859C= (p.Ala620=)
n.6558C=
18g.23903097C>GCA402049497LAMA3c.1463C>G (p.Ala488Gly)
c.6290C>G (p.Ala2097Gly)
c.3182C>G (p.Ala1061Gly)
c.6122C>G (p.Ala2041Gly)
c.1068C>G
c.1295C>G (p.Ala432Gly)
n.868C>G
c.6317C>G (p.Ala2106Gly)
c.6308C>G (p.Ala2103Gly)
c.6299C>G (p.Ala2100Gly)
c.6185C>G (p.Ala2062Gly)
c.4169C>G (p.Ala1390Gly)
c.1859C>G (p.Ala620Gly)
n.6558C>G
18g.23903097C>TCA8916325LAMA3c.1463C>T (p.Ala488Val)
c.6290C>T (p.Ala2097Val)
c.3182C>T (p.Ala1061Val)
c.6122C>T (p.Ala2041Val)
c.1068C>T
c.1295C>T (p.Ala432Val)
n.868C>T
c.6317C>T (p.Ala2106Val)
c.6308C>T (p.Ala2103Val)
c.6299C>T (p.Ala2100Val)
c.6185C>T (p.Ala2062Val)
c.4169C>T (p.Ala1390Val)
c.1859C>T (p.Ala620Val)
n.6558C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
18g.23903098G>ACA8916327LAMA3c.1464G>A (p.Ala488=)
c.6291G>A (p.Ala2097=)
c.3183G>A (p.Ala1061=)
c.6123G>A (p.Ala2041=)
c.1069G>A
c.1296G>A (p.Ala432=)
n.869G>A
c.6318G>A (p.Ala2106=)
c.6309G>A (p.Ala2103=)
c.6300G>A (p.Ala2100=)
c.6186G>A (p.Ala2062=)
c.4170G>A (p.Ala1390=)
c.1860G>A (p.Ala620=)
n.6559G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
18g.23903098G>CCA503335004LAMA3c.1464G>C (p.Ala488=)
c.6291G>C (p.Ala2097=)
c.3183G>C (p.Ala1061=)
c.6123G>C (p.Ala2041=)
c.1069G>C
c.1296G>C (p.Ala432=)
n.869G>C
c.6318G>C (p.Ala2106=)
c.6309G>C (p.Ala2103=)
c.6300G>C (p.Ala2100=)
c.6186G>C (p.Ala2062=)
c.4170G>C (p.Ala1390=)
c.1860G>C (p.Ala620=)
n.6559G>C
 ClinVar
18g.23903098G=CA2290324025LAMA3c.1464G= (p.Ala488=)
c.6291G= (p.Ala2097=)
c.3183G= (p.Ala1061=)
c.6123G= (p.Ala2041=)
c.1069G=
c.1296G= (p.Ala432=)
n.869G=
c.6318G= (p.Ala2106=)
c.6309G= (p.Ala2103=)
c.6300G= (p.Ala2100=)
c.6186G= (p.Ala2062=)
c.4170G= (p.Ala1390=)
c.1860G= (p.Ala620=)
n.6559G=
18g.23903098G>TCA297101542LAMA3c.1464G>T (p.Ala488=)
c.6291G>T (p.Ala2097=)
c.3183G>T (p.Ala1061=)
c.6123G>T (p.Ala2041=)
c.1069G>T
c.1296G>T (p.Ala432=)
n.869G>T
c.6318G>T (p.Ala2106=)
c.6309G>T (p.Ala2103=)
c.6300G>T (p.Ala2100=)
c.6186G>T (p.Ala2062=)
c.4170G>T (p.Ala1390=)
c.1860G>T (p.Ala620=)
n.6559G>T
 dbSNP gnomAD v3 gnomAD v4
18g.23903099C>ACA402049507LAMA3c.1465C>A (p.Leu489Met)
c.6292C>A (p.Leu2098Met)
c.3184C>A (p.Leu1062Met)
c.6124C>A (p.Leu2042Met)
c.1070C>A
c.1297C>A (p.Leu433Met)
n.870C>A
c.6319C>A (p.Leu2107Met)
c.6310C>A (p.Leu2104Met)
c.6301C>A (p.Leu2101Met)
c.6187C>A (p.Leu2063Met)
c.4171C>A (p.Leu1391Met)
c.1861C>A (p.Leu621Met)
n.6560C>A
 gnomAD v4
18g.23903099C>GCA402049509LAMA3c.1465C>G (p.Leu489Val)
c.6292C>G (p.Leu2098Val)
c.3184C>G (p.Leu1062Val)
c.6124C>G (p.Leu2042Val)
c.1070C>G
c.1297C>G (p.Leu433Val)
n.870C>G
c.6319C>G (p.Leu2107Val)
c.6310C>G (p.Leu2104Val)
c.6301C>G (p.Leu2101Val)
c.6187C>G (p.Leu2063Val)
c.4171C>G (p.Leu1391Val)
c.1861C>G (p.Leu621Val)
n.6560C>G
18g.23903099C>TCA503335009LAMA3c.1465C>T (p.Leu489=)
c.6292C>T (p.Leu2098=)
c.3184C>T (p.Leu1062=)
c.6124C>T (p.Leu2042=)
c.1070C>T
c.1297C>T (p.Leu433=)
n.870C>T
c.6319C>T (p.Leu2107=)
c.6310C>T (p.Leu2104=)
c.6301C>T (p.Leu2101=)
c.6187C>T (p.Leu2063=)
c.4171C>T (p.Leu1391=)
c.1861C>T (p.Leu621=)
n.6560C>T
18g.23903100T>ACA402049515LAMA3c.1466T>A (p.Leu489Gln)
c.6293T>A (p.Leu2098Gln)
c.3185T>A (p.Leu1062Gln)
c.6125T>A (p.Leu2042Gln)
c.1071T>A
c.1298T>A (p.Leu433Gln)
n.871T>A
c.6320T>A (p.Leu2107Gln)
c.6311T>A (p.Leu2104Gln)
c.6302T>A (p.Leu2101Gln)
c.6188T>A (p.Leu2063Gln)
c.4172T>A (p.Leu1391Gln)
c.1862T>A (p.Leu621Gln)
n.6561T>A
18g.23903100T>CCA402049518LAMA3c.1466T>C (p.Leu489Pro)
c.6293T>C (p.Leu2098Pro)
c.3185T>C (p.Leu1062Pro)
c.6125T>C (p.Leu2042Pro)
c.1071T>C
c.1298T>C (p.Leu433Pro)
n.871T>C
c.6320T>C (p.Leu2107Pro)
c.6311T>C (p.Leu2104Pro)
c.6302T>C (p.Leu2101Pro)
c.6188T>C (p.Leu2063Pro)
c.4172T>C (p.Leu1391Pro)
c.1862T>C (p.Leu621Pro)
n.6561T>C
 dbSNP gnomAD v2 gnomAD v4
18g.23903100T>GCA402049522LAMA3c.1466T>G (p.Leu489Arg)
c.6293T>G (p.Leu2098Arg)
c.3185T>G (p.Leu1062Arg)
c.6125T>G (p.Leu2042Arg)
c.1071T>G
c.1298T>G (p.Leu433Arg)
n.871T>G
c.6320T>G (p.Leu2107Arg)
c.6311T>G (p.Leu2104Arg)
c.6302T>G (p.Leu2101Arg)
c.6188T>G (p.Leu2063Arg)
c.4172T>G (p.Leu1391Arg)
c.1862T>G (p.Leu621Arg)
n.6561T>G
18g.23903100T=CA2290324026LAMA3c.1466T= (p.Leu489=)
c.6293T= (p.Leu2098=)
c.3185T= (p.Leu1062=)
c.6125T= (p.Leu2042=)
c.1071T=
c.1298T= (p.Leu433=)
n.871T=
c.6320T= (p.Leu2107=)
c.6311T= (p.Leu2104=)
c.6302T= (p.Leu2101=)
c.6188T= (p.Leu2063=)
c.4172T= (p.Leu1391=)
c.1862T= (p.Leu621=)
n.6561T=
18g.23903101G>ACA503335012LAMA3c.1467G>A (p.Leu489=)
c.6294G>A (p.Leu2098=)
c.3186G>A (p.Leu1062=)
c.6126G>A (p.Leu2042=)
c.1072G>A
c.1299G>A (p.Leu433=)
n.872G>A
c.6321G>A (p.Leu2107=)
c.6312G>A (p.Leu2104=)
c.6303G>A (p.Leu2101=)
c.6189G>A (p.Leu2063=)
c.4173G>A (p.Leu1391=)
c.1863G>A (p.Leu621=)
n.6562G>A
18g.23903101G>CCA503335011LAMA3c.1467G>C (p.Leu489=)
c.6294G>C (p.Leu2098=)
c.3186G>C (p.Leu1062=)
c.6126G>C (p.Leu2042=)
c.1072G>C
c.1299G>C (p.Leu433=)
n.872G>C
c.6321G>C (p.Leu2107=)
c.6312G>C (p.Leu2104=)
c.6303G>C (p.Leu2101=)
c.6189G>C (p.Leu2063=)
c.4173G>C (p.Leu1391=)
c.1863G>C (p.Leu621=)
n.6562G>C
18g.23903101G>TCA503335010LAMA3c.1467G>T (p.Leu489=)
c.6294G>T (p.Leu2098=)
c.3186G>T (p.Leu1062=)
c.6126G>T (p.Leu2042=)
c.1072G>T
c.1299G>T (p.Leu433=)
n.872G>T
c.6321G>T (p.Leu2107=)
c.6312G>T (p.Leu2104=)
c.6303G>T (p.Leu2101=)
c.6189G>T (p.Leu2063=)
c.4173G>T (p.Leu1391=)
c.1863G>T (p.Leu621=)
n.6562G>T
18g.23903102C>ACA402049526LAMA3c.1468C>A (p.Gln490Lys)
c.6295C>A (p.Gln2099Lys)
c.3187C>A (p.Gln1063Lys)
c.6127C>A (p.Gln2043Lys)
c.1073C>A
c.1300C>A (p.Gln434Lys)
n.873C>A
c.6322C>A (p.Gln2108Lys)
c.6313C>A (p.Gln2105Lys)
c.6304C>A (p.Gln2102Lys)
c.6190C>A (p.Gln2064Lys)
c.4174C>A (p.Gln1392Lys)
c.1864C>A (p.Gln622Lys)
n.6563C>A
 gnomAD v4
18g.23903102C>GCA402049529LAMA3c.1468C>G (p.Gln490Glu)
c.6295C>G (p.Gln2099Glu)
c.3187C>G (p.Gln1063Glu)
c.6127C>G (p.Gln2043Glu)
c.1073C>G
c.1300C>G (p.Gln434Glu)
n.873C>G
c.6322C>G (p.Gln2108Glu)
c.6313C>G (p.Gln2105Glu)
c.6304C>G (p.Gln2102Glu)
c.6190C>G (p.Gln2064Glu)
c.4174C>G (p.Gln1392Glu)
c.1864C>G (p.Gln622Glu)
n.6563C>G
18g.23903102C>TCA402049532LAMA3c.1468C>T (p.Gln490Ter)
c.6295C>T (p.Gln2099Ter)
c.3187C>T (p.Gln1063Ter)
c.6127C>T (p.Gln2043Ter)
c.1073C>T
c.1300C>T (p.Gln434Ter)
n.873C>T
c.6322C>T (p.Gln2108Ter)
c.6313C>T (p.Gln2105Ter)
c.6304C>T (p.Gln2102Ter)
c.6190C>T (p.Gln2064Ter)
c.4174C>T (p.Gln1392Ter)
c.1864C>T (p.Gln622Ter)
n.6563C>T
18g.23903103A=CA2290324027LAMA3c.1469A= (p.Gln490=)
c.6296A= (p.Gln2099=)
c.3188A= (p.Gln1063=)
c.6128A= (p.Gln2043=)
c.1074A=
c.1301A= (p.Gln434=)
n.874A=
c.6323A= (p.Gln2108=)
c.6314A= (p.Gln2105=)
c.6305A= (p.Gln2102=)
c.6191A= (p.Gln2064=)
c.4175A= (p.Gln1392=)
c.1865A= (p.Gln622=)
n.6564A=
18g.23903103A>CCA402049536LAMA3c.1469A>C (p.Gln490Pro)
c.6296A>C (p.Gln2099Pro)
c.3188A>C (p.Gln1063Pro)
c.6128A>C (p.Gln2043Pro)
c.1074A>C
c.1301A>C (p.Gln434Pro)
n.874A>C
c.6323A>C (p.Gln2108Pro)
c.6314A>C (p.Gln2105Pro)
c.6305A>C (p.Gln2102Pro)
c.6191A>C (p.Gln2064Pro)
c.4175A>C (p.Gln1392Pro)
c.1865A>C (p.Gln622Pro)
n.6564A>C
18g.23903103A>GCA402049539LAMA3c.1469A>G (p.Gln490Arg)
c.6296A>G (p.Gln2099Arg)
c.3188A>G (p.Gln1063Arg)
c.6128A>G (p.Gln2043Arg)
c.1074A>G
c.1301A>G (p.Gln434Arg)
n.874A>G
c.6323A>G (p.Gln2108Arg)
c.6314A>G (p.Gln2105Arg)
c.6305A>G (p.Gln2102Arg)
c.6191A>G (p.Gln2064Arg)
c.4175A>G (p.Gln1392Arg)
c.1865A>G (p.Gln622Arg)
n.6564A>G
18g.23903103A>TCA297101546LAMA3c.1469A>T (p.Gln490Leu)
c.6296A>T (p.Gln2099Leu)
c.3188A>T (p.Gln1063Leu)
c.6128A>T (p.Gln2043Leu)
c.1074A>T
c.1301A>T (p.Gln434Leu)
n.874A>T
c.6323A>T (p.Gln2108Leu)
c.6314A>T (p.Gln2105Leu)
c.6305A>T (p.Gln2102Leu)
c.6191A>T (p.Gln2064Leu)
c.4175A>T (p.Gln1392Leu)
c.1865A>T (p.Gln622Leu)
n.6564A>T
 dbSNP
18g.23903104G>ACA503335013LAMA3c.1470G>A (p.Gln490=)
c.6297G>A (p.Gln2099=)
c.3189G>A (p.Gln1063=)
c.6129G>A (p.Gln2043=)
c.1075G>A
c.1302G>A (p.Gln434=)
n.875G>A
c.6324G>A (p.Gln2108=)
c.6315G>A (p.Gln2105=)
c.6306G>A (p.Gln2102=)
c.6192G>A (p.Gln2064=)
c.4176G>A (p.Gln1392=)
c.1866G>A (p.Gln622=)
n.6565G>A
18g.23903104G>CCA402049542LAMA3c.1470G>C (p.Gln490His)
c.6297G>C (p.Gln2099His)
c.3189G>C (p.Gln1063His)
c.6129G>C (p.Gln2043His)
c.1075G>C
c.1302G>C (p.Gln434His)
n.875G>C
c.6324G>C (p.Gln2108His)
c.6315G>C (p.Gln2105His)
c.6306G>C (p.Gln2102His)
c.6192G>C (p.Gln2064His)
c.4176G>C (p.Gln1392His)
c.1866G>C (p.Gln622His)
n.6565G>C
18g.23903104G>TCA402049543LAMA3c.1470G>T (p.Gln490His)
c.6297G>T (p.Gln2099His)
c.3189G>T (p.Gln1063His)
c.6129G>T (p.Gln2043His)
c.1075G>T
c.1302G>T (p.Gln434His)
n.875G>T
c.6324G>T (p.Gln2108His)
c.6315G>T (p.Gln2105His)
c.6306G>T (p.Gln2102His)
c.6192G>T (p.Gln2064His)
c.4176G>T (p.Gln1392His)
c.1866G>T (p.Gln622His)
n.6565G>T
18g.23903105C>ACA402049550LAMA3c.1471C>A (p.Leu491Met)
c.6298C>A (p.Leu2100Met)
c.3190C>A (p.Leu1064Met)
c.6130C>A (p.Leu2044Met)
c.1076C>A
c.1303C>A (p.Leu435Met)
n.876C>A
c.6325C>A (p.Leu2109Met)
c.6316C>A (p.Leu2106Met)
c.6307C>A (p.Leu2103Met)
c.6193C>A (p.Leu2065Met)
c.4177C>A (p.Leu1393Met)
c.1867C>A (p.Leu623Met)
n.6566C>A
 gnomAD v4
18g.23903105C>GCA402049547LAMA3c.1471C>G (p.Leu491Val)
c.6298C>G (p.Leu2100Val)
c.3190C>G (p.Leu1064Val)
c.6130C>G (p.Leu2044Val)
c.1076C>G
c.1303C>G (p.Leu435Val)
n.876C>G
c.6325C>G (p.Leu2109Val)
c.6316C>G (p.Leu2106Val)
c.6307C>G (p.Leu2103Val)
c.6193C>G (p.Leu2065Val)
c.4177C>G (p.Leu1393Val)
c.1867C>G (p.Leu623Val)
n.6566C>G
18g.23903105C>TCA503335014LAMA3c.1471C>T (p.Leu491=)
c.6298C>T (p.Leu2100=)
c.3190C>T (p.Leu1064=)
c.6130C>T (p.Leu2044=)
c.1076C>T
c.1303C>T (p.Leu435=)
n.876C>T
c.6325C>T (p.Leu2109=)
c.6316C>T (p.Leu2106=)
c.6307C>T (p.Leu2103=)
c.6193C>T (p.Leu2065=)
c.4177C>T (p.Leu1393=)
c.1867C>T (p.Leu623=)
n.6566C>T
18g.23903106delCA2697555354LAMA3c.1472del (p.Leu491ArgfsTer12)
c.6299del (p.Leu2100ArgfsTer12)
c.3191del (p.Leu1064ArgfsTer12)
c.6131del (p.Leu2044ArgfsTer12)
c.1077del
c.1304del (p.Leu435ArgfsTer12)
n.877del
c.6326del (p.Leu2109ArgfsTer12)
c.6317del (p.Leu2106ArgfsTer12)
c.6308del (p.Leu2103ArgfsTer12)
c.6194del (p.Leu2065ArgfsTer12)
c.4178del (p.Leu1393ArgfsTer12)
c.1868del (p.Leu623ArgfsTer12)
n.6567del
 ClinVar
18g.23903106T>ACA402049553LAMA3c.1472T>A (p.Leu491Gln)
c.6299T>A (p.Leu2100Gln)
c.3191T>A (p.Leu1064Gln)
c.6131T>A (p.Leu2044Gln)
c.1077T>A
c.1304T>A (p.Leu435Gln)
n.877T>A
c.6326T>A (p.Leu2109Gln)
c.6317T>A (p.Leu2106Gln)
c.6308T>A (p.Leu2103Gln)
c.6194T>A (p.Leu2065Gln)
c.4178T>A (p.Leu1393Gln)
c.1868T>A (p.Leu623Gln)
n.6567T>A
18g.23903106T>CCA402049556LAMA3c.1472T>C (p.Leu491Pro)
c.6299T>C (p.Leu2100Pro)
c.3191T>C (p.Leu1064Pro)
c.6131T>C (p.Leu2044Pro)
c.1077T>C
c.1304T>C (p.Leu435Pro)
n.877T>C
c.6326T>C (p.Leu2109Pro)
c.6317T>C (p.Leu2106Pro)
c.6308T>C (p.Leu2103Pro)
c.6194T>C (p.Leu2065Pro)
c.4178T>C (p.Leu1393Pro)
c.1868T>C (p.Leu623Pro)
n.6567T>C
18g.23903106T>GCA402049559LAMA3c.1472T>G (p.Leu491Arg)
c.6299T>G (p.Leu2100Arg)
c.3191T>G (p.Leu1064Arg)
c.6131T>G (p.Leu2044Arg)
c.1077T>G
c.1304T>G (p.Leu435Arg)
n.877T>G
c.6326T>G (p.Leu2109Arg)
c.6317T>G (p.Leu2106Arg)
c.6308T>G (p.Leu2103Arg)
c.6194T>G (p.Leu2065Arg)
c.4178T>G (p.Leu1393Arg)
c.1868T>G (p.Leu623Arg)
n.6567T>G
18g.23903107G>ACA503335015LAMA3c.1473G>A (p.Leu491=)
c.6300G>A (p.Leu2100=)
c.3192G>A (p.Leu1064=)
c.6132G>A (p.Leu2044=)
c.1078G>A
c.1305G>A (p.Leu435=)
n.878G>A
c.6327G>A (p.Leu2109=)
c.6318G>A (p.Leu2106=)
c.6309G>A (p.Leu2103=)
c.6195G>A (p.Leu2065=)
c.4179G>A (p.Leu1393=)
c.1869G>A (p.Leu623=)
n.6568G>A
18g.23903107G>CCA503335016LAMA3c.1473G>C (p.Leu491=)
c.6300G>C (p.Leu2100=)
c.3192G>C (p.Leu1064=)
c.6132G>C (p.Leu2044=)
c.1078G>C
c.1305G>C (p.Leu435=)
n.878G>C
c.6327G>C (p.Leu2109=)
c.6318G>C (p.Leu2106=)
c.6309G>C (p.Leu2103=)
c.6195G>C (p.Leu2065=)
c.4179G>C (p.Leu1393=)
c.1869G>C (p.Leu623=)
n.6568G>C
18g.23903107G>TCA503335017LAMA3c.1473G>T (p.Leu491=)
c.6300G>T (p.Leu2100=)
c.3192G>T (p.Leu1064=)
c.6132G>T (p.Leu2044=)
c.1078G>T
c.1305G>T (p.Leu435=)
n.878G>T
c.6327G>T (p.Leu2109=)
c.6318G>T (p.Leu2106=)
c.6309G>T (p.Leu2103=)
c.6195G>T (p.Leu2065=)
c.4179G>T (p.Leu1393=)
c.1869G>T (p.Leu623=)
n.6568G>T
18g.23903108A>CCA402049562LAMA3c.1474A>C (p.Met492Leu)
c.6301A>C (p.Met2101Leu)
c.3193A>C (p.Met1065Leu)
c.6133A>C (p.Met2045Leu)
c.1079A>C
c.1306A>C (p.Met436Leu)
n.879A>C
c.6328A>C (p.Met2110Leu)
c.6319A>C (p.Met2107Leu)
c.6310A>C (p.Met2104Leu)
c.6196A>C (p.Met2066Leu)
c.4180A>C (p.Met1394Leu)
c.1870A>C (p.Met624Leu)
n.6569A>C
18g.23903108A>GCA402049565LAMA3c.1474A>G (p.Met492Val)
c.6301A>G (p.Met2101Val)
c.3193A>G (p.Met1065Val)
c.6133A>G (p.Met2045Val)
c.1079A>G
c.1306A>G (p.Met436Val)
n.879A>G
c.6328A>G (p.Met2110Val)
c.6319A>G (p.Met2107Val)
c.6310A>G (p.Met2104Val)
c.6196A>G (p.Met2066Val)
c.4180A>G (p.Met1394Val)
c.1870A>G (p.Met624Val)
n.6569A>G
18g.23903108A>TCA402049569LAMA3c.1474A>T (p.Met492Leu)
c.6301A>T (p.Met2101Leu)
c.3193A>T (p.Met1065Leu)
c.6133A>T (p.Met2045Leu)
c.1079A>T
c.1306A>T (p.Met436Leu)
n.879A>T
c.6328A>T (p.Met2110Leu)
c.6319A>T (p.Met2107Leu)
c.6310A>T (p.Met2104Leu)
c.6196A>T (p.Met2066Leu)
c.4180A>T (p.Met1394Leu)
c.1870A>T (p.Met624Leu)
n.6569A>T
18g.23903109T>ACA8916329LAMA3c.1475T>A (p.Met492Lys)
c.6302T>A (p.Met2101Lys)
c.3194T>A (p.Met1065Lys)
c.6134T>A (p.Met2045Lys)
c.1080T>A
c.1307T>A (p.Met436Lys)
n.880T>A
c.6329T>A (p.Met2110Lys)
c.6320T>A (p.Met2107Lys)
c.6311T>A (p.Met2104Lys)
c.6197T>A (p.Met2066Lys)
c.4181T>A (p.Met1394Lys)
c.1871T>A (p.Met624Lys)
n.6570T>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23903109T>CCA8916328LAMA3c.1475T>C (p.Met492Thr)
c.6302T>C (p.Met2101Thr)
c.3194T>C (p.Met1065Thr)
c.6134T>C (p.Met2045Thr)
c.1080T>C
c.1307T>C (p.Met436Thr)
n.880T>C
c.6329T>C (p.Met2110Thr)
c.6320T>C (p.Met2107Thr)
c.6311T>C (p.Met2104Thr)
c.6197T>C (p.Met2066Thr)
c.4181T>C (p.Met1394Thr)
c.1871T>C (p.Met624Thr)
n.6570T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23903109T>GCA402049575LAMA3c.1475T>G (p.Met492Arg)
c.6302T>G (p.Met2101Arg)
c.3194T>G (p.Met1065Arg)
c.6134T>G (p.Met2045Arg)
c.1080T>G
c.1307T>G (p.Met436Arg)
n.880T>G
c.6329T>G (p.Met2110Arg)
c.6320T>G (p.Met2107Arg)
c.6311T>G (p.Met2104Arg)
c.6197T>G (p.Met2066Arg)
c.4181T>G (p.Met1394Arg)
c.1871T>G (p.Met624Arg)
n.6570T>G
18g.23903109T=CA2290324028LAMA3c.1475T= (p.Met492=)
c.6302T= (p.Met2101=)
c.3194T= (p.Met1065=)
c.6134T= (p.Met2045=)
c.1080T=
c.1307T= (p.Met436=)
n.880T=
c.6329T= (p.Met2110=)
c.6320T= (p.Met2107=)
c.6311T= (p.Met2104=)
c.6197T= (p.Met2066=)
c.4181T= (p.Met1394=)
c.1871T= (p.Met624=)
n.6570T=
18g.23903110G>ACA402049580LAMA3c.1476G>A (p.Met492Ile)
c.6303G>A (p.Met2101Ile)
c.3195G>A (p.Met1065Ile)
c.6135G>A (p.Met2045Ile)
c.1081G>A
c.1308G>A (p.Met436Ile)
n.881G>A
c.6330G>A (p.Met2110Ile)
c.6321G>A (p.Met2107Ile)
c.6312G>A (p.Met2104Ile)
c.6198G>A (p.Met2066Ile)
c.4182G>A (p.Met1394Ile)
c.1872G>A (p.Met624Ile)
n.6571G>A
18g.23903110G>CCA402049581LAMA3c.1476G>C (p.Met492Ile)
c.6303G>C (p.Met2101Ile)
c.3195G>C (p.Met1065Ile)
c.6135G>C (p.Met2045Ile)
c.1081G>C
c.1308G>C (p.Met436Ile)
n.881G>C
c.6330G>C (p.Met2110Ile)
c.6321G>C (p.Met2107Ile)
c.6312G>C (p.Met2104Ile)
c.6198G>C (p.Met2066Ile)
c.4182G>C (p.Met1394Ile)
c.1872G>C (p.Met624Ile)
n.6571G>C
18g.23903110G>TCA402049584LAMA3c.1476G>T (p.Met492Ile)
c.6303G>T (p.Met2101Ile)
c.3195G>T (p.Met1065Ile)
c.6135G>T (p.Met2045Ile)
c.1081G>T
c.1308G>T (p.Met436Ile)
n.881G>T
c.6330G>T (p.Met2110Ile)
c.6321G>T (p.Met2107Ile)
c.6312G>T (p.Met2104Ile)
c.6198G>T (p.Met2066Ile)
c.4182G>T (p.Met1394Ile)
c.1872G>T (p.Met624Ile)
n.6571G>T

Number of alleles fetched