Chr Mutation (hg38) CAid Gene Transcript Linkouts
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

Number of alleles fetched