Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.23905537G>ACA402051299LAMA3c.1804G>A (p.Asp602Asn)
c.6631G>A (p.Asp2211Asn)
c.3523G>A (p.Asp1175Asn)
c.6463G>A (p.Asp2155Asn)
c.1409G>A
c.1636G>A (p.Asp546Asn)
n.1209G>A
c.6658G>A (p.Asp2220Asn)
c.6649G>A (p.Asp2217Asn)
c.6640G>A (p.Asp2214Asn)
c.6526G>A (p.Asp2176Asn)
c.4510G>A (p.Asp1504Asn)
c.2200G>A (p.Asp734Asn)
n.6899G>A
18g.23905537G>CCA402051298LAMA3c.1804G>C (p.Asp602His)
c.6631G>C (p.Asp2211His)
c.3523G>C (p.Asp1175His)
c.6463G>C (p.Asp2155His)
c.1409G>C
c.1636G>C (p.Asp546His)
n.1209G>C
c.6658G>C (p.Asp2220His)
c.6649G>C (p.Asp2217His)
c.6640G>C (p.Asp2214His)
c.6526G>C (p.Asp2176His)
c.4510G>C (p.Asp1504His)
c.2200G>C (p.Asp734His)
n.6899G>C
 dbSNP gnomAD v2 gnomAD v4
18g.23905537G=CA2290325045LAMA3c.1804G= (p.Asp602=)
c.6631G= (p.Asp2211=)
c.3523G= (p.Asp1175=)
c.6463G= (p.Asp2155=)
c.1409G=
c.1636G= (p.Asp546=)
n.1209G=
c.6658G= (p.Asp2220=)
c.6649G= (p.Asp2217=)
c.6640G= (p.Asp2214=)
c.6526G= (p.Asp2176=)
c.4510G= (p.Asp1504=)
c.2200G= (p.Asp734=)
n.6899G=
18g.23905537G>TCA402051297LAMA3c.1804G>T (p.Asp602Tyr)
c.6631G>T (p.Asp2211Tyr)
c.3523G>T (p.Asp1175Tyr)
c.6463G>T (p.Asp2155Tyr)
c.1409G>T
c.1636G>T (p.Asp546Tyr)
n.1209G>T
c.6658G>T (p.Asp2220Tyr)
c.6649G>T (p.Asp2217Tyr)
c.6640G>T (p.Asp2214Tyr)
c.6526G>T (p.Asp2176Tyr)
c.4510G>T (p.Asp1504Tyr)
c.2200G>T (p.Asp734Tyr)
n.6899G>T
18g.23905538A>CCA402051300LAMA3c.1805A>C (p.Asp602Ala)
c.6632A>C (p.Asp2211Ala)
c.3524A>C (p.Asp1175Ala)
c.6464A>C (p.Asp2155Ala)
c.1410A>C
c.1637A>C (p.Asp546Ala)
n.1210A>C
c.6659A>C (p.Asp2220Ala)
c.6650A>C (p.Asp2217Ala)
c.6641A>C (p.Asp2214Ala)
c.6527A>C (p.Asp2176Ala)
c.4511A>C (p.Asp1504Ala)
c.2201A>C (p.Asp734Ala)
n.6900A>C
18g.23905538A>GCA402051301LAMA3c.1805A>G (p.Asp602Gly)
c.6632A>G (p.Asp2211Gly)
c.3524A>G (p.Asp1175Gly)
c.6464A>G (p.Asp2155Gly)
c.1410A>G
c.1637A>G (p.Asp546Gly)
n.1210A>G
c.6659A>G (p.Asp2220Gly)
c.6650A>G (p.Asp2217Gly)
c.6641A>G (p.Asp2214Gly)
c.6527A>G (p.Asp2176Gly)
c.4511A>G (p.Asp1504Gly)
c.2201A>G (p.Asp734Gly)
n.6900A>G
18g.23905538A>TCA402051302LAMA3c.1805A>T (p.Asp602Val)
c.6632A>T (p.Asp2211Val)
c.3524A>T (p.Asp1175Val)
c.6464A>T (p.Asp2155Val)
c.1410A>T
c.1637A>T (p.Asp546Val)
n.1210A>T
c.6659A>T (p.Asp2220Val)
c.6650A>T (p.Asp2217Val)
c.6641A>T (p.Asp2214Val)
c.6527A>T (p.Asp2176Val)
c.4511A>T (p.Asp1504Val)
c.2201A>T (p.Asp734Val)
n.6900A>T
18g.23905539T>ACA402051303LAMA3c.1806T>A (p.Asp602Glu)
c.6633T>A (p.Asp2211Glu)
c.3525T>A (p.Asp1175Glu)
c.6465T>A (p.Asp2155Glu)
c.1411T>A
c.1638T>A (p.Asp546Glu)
n.1211T>A
c.6660T>A (p.Asp2220Glu)
c.6651T>A (p.Asp2217Glu)
c.6642T>A (p.Asp2214Glu)
c.6528T>A (p.Asp2176Glu)
c.4512T>A (p.Asp1504Glu)
c.2202T>A (p.Asp734Glu)
n.6901T>A
 gnomAD v4
18g.23905539T>CCA503336559LAMA3c.1806T>C (p.Asp602=)
c.6633T>C (p.Asp2211=)
c.3525T>C (p.Asp1175=)
c.6465T>C (p.Asp2155=)
c.1411T>C
c.1638T>C (p.Asp546=)
n.1211T>C
c.6660T>C (p.Asp2220=)
c.6651T>C (p.Asp2217=)
c.6642T>C (p.Asp2214=)
c.6528T>C (p.Asp2176=)
c.4512T>C (p.Asp1504=)
c.2202T>C (p.Asp734=)
n.6901T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.23905539T>GCA402051304LAMA3c.1806T>G (p.Asp602Glu)
c.6633T>G (p.Asp2211Glu)
c.3525T>G (p.Asp1175Glu)
c.6465T>G (p.Asp2155Glu)
c.1411T>G
c.1638T>G (p.Asp546Glu)
n.1211T>G
c.6660T>G (p.Asp2220Glu)
c.6651T>G (p.Asp2217Glu)
c.6642T>G (p.Asp2214Glu)
c.6528T>G (p.Asp2176Glu)
c.4512T>G (p.Asp1504Glu)
c.2202T>G (p.Asp734Glu)
n.6901T>G
18g.23905539T=CA2290325046LAMA3c.1806T= (p.Asp602=)
c.6633T= (p.Asp2211=)
c.3525T= (p.Asp1175=)
c.6465T= (p.Asp2155=)
c.1411T=
c.1638T= (p.Asp546=)
n.1211T=
c.6660T= (p.Asp2220=)
c.6651T= (p.Asp2217=)
c.6642T= (p.Asp2214=)
c.6528T= (p.Asp2176=)
c.4512T= (p.Asp1504=)
c.2202T= (p.Asp734=)
n.6901T=
18g.23905540C>ACA402051305LAMA3c.1807C>A (p.Leu603Met)
c.6634C>A (p.Leu2212Met)
c.3526C>A (p.Leu1176Met)
c.6466C>A (p.Leu2156Met)
c.1412C>A
c.1639C>A (p.Leu547Met)
n.1212C>A
c.6661C>A (p.Leu2221Met)
c.6652C>A (p.Leu2218Met)
c.6643C>A (p.Leu2215Met)
c.6529C>A (p.Leu2177Met)
c.4513C>A (p.Leu1505Met)
c.2203C>A (p.Leu735Met)
n.6902C>A
 gnomAD v4
18g.23905540C>GCA402051306LAMA3c.1807C>G (p.Leu603Val)
c.6634C>G (p.Leu2212Val)
c.3526C>G (p.Leu1176Val)
c.6466C>G (p.Leu2156Val)
c.1412C>G
c.1639C>G (p.Leu547Val)
n.1212C>G
c.6661C>G (p.Leu2221Val)
c.6652C>G (p.Leu2218Val)
c.6643C>G (p.Leu2215Val)
c.6529C>G (p.Leu2177Val)
c.4513C>G (p.Leu1505Val)
c.2203C>G (p.Leu735Val)
n.6902C>G
 gnomAD v4
18g.23905540C>TCA503336560LAMA3c.1807C>T (p.Leu603=)
c.6634C>T (p.Leu2212=)
c.3526C>T (p.Leu1176=)
c.6466C>T (p.Leu2156=)
c.1412C>T
c.1639C>T (p.Leu547=)
n.1212C>T
c.6661C>T (p.Leu2221=)
c.6652C>T (p.Leu2218=)
c.6643C>T (p.Leu2215=)
c.6529C>T (p.Leu2177=)
c.4513C>T (p.Leu1505=)
c.2203C>T (p.Leu735=)
n.6902C>T
18g.23905541T>ACA402051307LAMA3c.1808T>A (p.Leu603Gln)
c.6635T>A (p.Leu2212Gln)
c.3527T>A (p.Leu1176Gln)
c.6467T>A (p.Leu2156Gln)
c.1413T>A
c.1640T>A (p.Leu547Gln)
n.1213T>A
c.6662T>A (p.Leu2221Gln)
c.6653T>A (p.Leu2218Gln)
c.6644T>A (p.Leu2215Gln)
c.6530T>A (p.Leu2177Gln)
c.4514T>A (p.Leu1505Gln)
c.2204T>A (p.Leu735Gln)
n.6903T>A
18g.23905541T>CCA402051309LAMA3c.1808T>C (p.Leu603Pro)
c.6635T>C (p.Leu2212Pro)
c.3527T>C (p.Leu1176Pro)
c.6467T>C (p.Leu2156Pro)
c.1413T>C
c.1640T>C (p.Leu547Pro)
n.1213T>C
c.6662T>C (p.Leu2221Pro)
c.6653T>C (p.Leu2218Pro)
c.6644T>C (p.Leu2215Pro)
c.6530T>C (p.Leu2177Pro)
c.4514T>C (p.Leu1505Pro)
c.2204T>C (p.Leu735Pro)
n.6903T>C
 gnomAD v4
18g.23905541T>GCA402051311LAMA3c.1808T>G (p.Leu603Arg)
c.6635T>G (p.Leu2212Arg)
c.3527T>G (p.Leu1176Arg)
c.6467T>G (p.Leu2156Arg)
c.1413T>G
c.1640T>G (p.Leu547Arg)
n.1213T>G
c.6662T>G (p.Leu2221Arg)
c.6653T>G (p.Leu2218Arg)
c.6644T>G (p.Leu2215Arg)
c.6530T>G (p.Leu2177Arg)
c.4514T>G (p.Leu1505Arg)
c.2204T>G (p.Leu735Arg)
n.6903T>G
18g.23905542G>ACA503336562LAMA3c.1809G>A (p.Leu603=)
c.6636G>A (p.Leu2212=)
c.3528G>A (p.Leu1176=)
c.6468G>A (p.Leu2156=)
c.1414G>A
c.1641G>A (p.Leu547=)
n.1214G>A
c.6663G>A (p.Leu2221=)
c.6654G>A (p.Leu2218=)
c.6645G>A (p.Leu2215=)
c.6531G>A (p.Leu2177=)
c.4515G>A (p.Leu1505=)
c.2205G>A (p.Leu735=)
n.6904G>A
18g.23905542G>CCA503336563LAMA3c.1809G>C (p.Leu603=)
c.6636G>C (p.Leu2212=)
c.3528G>C (p.Leu1176=)
c.6468G>C (p.Leu2156=)
c.1414G>C
c.1641G>C (p.Leu547=)
n.1214G>C
c.6663G>C (p.Leu2221=)
c.6654G>C (p.Leu2218=)
c.6645G>C (p.Leu2215=)
c.6531G>C (p.Leu2177=)
c.4515G>C (p.Leu1505=)
c.2205G>C (p.Leu735=)
n.6904G>C
 ClinVar dbSNP
18g.23905542G>TCA503336564LAMA3c.1809G>T (p.Leu603=)
c.6636G>T (p.Leu2212=)
c.3528G>T (p.Leu1176=)
c.6468G>T (p.Leu2156=)
c.1414G>T
c.1641G>T (p.Leu547=)
n.1214G>T
c.6663G>T (p.Leu2221=)
c.6654G>T (p.Leu2218=)
c.6645G>T (p.Leu2215=)
c.6531G>T (p.Leu2177=)
c.4515G>T (p.Leu1505=)
c.2205G>T (p.Leu735=)
n.6904G>T
18g.23905543C>ACA402051313LAMA3c.1810C>A (p.Pro604Thr)
c.6637C>A (p.Pro2213Thr)
c.3529C>A (p.Pro1177Thr)
c.6469C>A (p.Pro2157Thr)
c.1415C>A
c.1642C>A (p.Pro548Thr)
n.1215C>A
c.6664C>A (p.Pro2222Thr)
c.6655C>A (p.Pro2219Thr)
c.6646C>A (p.Pro2216Thr)
c.6532C>A (p.Pro2178Thr)
c.4516C>A (p.Pro1506Thr)
c.2206C>A (p.Pro736Thr)
n.6905C>A
18g.23905543C>GCA402051314LAMA3c.1810C>G (p.Pro604Ala)
c.6637C>G (p.Pro2213Ala)
c.3529C>G (p.Pro1177Ala)
c.6469C>G (p.Pro2157Ala)
c.1415C>G
c.1642C>G (p.Pro548Ala)
n.1215C>G
c.6664C>G (p.Pro2222Ala)
c.6655C>G (p.Pro2219Ala)
c.6646C>G (p.Pro2216Ala)
c.6532C>G (p.Pro2178Ala)
c.4516C>G (p.Pro1506Ala)
c.2206C>G (p.Pro736Ala)
n.6905C>G
18g.23905543C>TCA402051315LAMA3c.1810C>T (p.Pro604Ser)
c.6637C>T (p.Pro2213Ser)
c.3529C>T (p.Pro1177Ser)
c.6469C>T (p.Pro2157Ser)
c.1415C>T
c.1642C>T (p.Pro548Ser)
n.1215C>T
c.6664C>T (p.Pro2222Ser)
c.6655C>T (p.Pro2219Ser)
c.6646C>T (p.Pro2216Ser)
c.6532C>T (p.Pro2178Ser)
c.4516C>T (p.Pro1506Ser)
c.2206C>T (p.Pro736Ser)
n.6905C>T
18g.23905544C>ACA402051316LAMA3c.1811C>A (p.Pro604Gln)
c.6638C>A (p.Pro2213Gln)
c.3530C>A (p.Pro1177Gln)
c.6470C>A (p.Pro2157Gln)
c.1416C>A
c.1643C>A (p.Pro548Gln)
n.1216C>A
c.6665C>A (p.Pro2222Gln)
c.6656C>A (p.Pro2219Gln)
c.6647C>A (p.Pro2216Gln)
c.6533C>A (p.Pro2178Gln)
c.4517C>A (p.Pro1506Gln)
c.2207C>A (p.Pro736Gln)
n.6906C>A
18g.23905544C=CA2290325047LAMA3c.1811C= (p.Pro604=)
c.6638C= (p.Pro2213=)
c.3530C= (p.Pro1177=)
c.6470C= (p.Pro2157=)
c.1416C=
c.1643C= (p.Pro548=)
n.1216C=
c.6665C= (p.Pro2222=)
c.6656C= (p.Pro2219=)
c.6647C= (p.Pro2216=)
c.6533C= (p.Pro2178=)
c.4517C= (p.Pro1506=)
c.2207C= (p.Pro736=)
n.6906C=
18g.23905544C>GCA402051318LAMA3c.1811C>G (p.Pro604Arg)
c.6638C>G (p.Pro2213Arg)
c.3530C>G (p.Pro1177Arg)
c.6470C>G (p.Pro2157Arg)
c.1416C>G
c.1643C>G (p.Pro548Arg)
n.1216C>G
c.6665C>G (p.Pro2222Arg)
c.6656C>G (p.Pro2219Arg)
c.6647C>G (p.Pro2216Arg)
c.6533C>G (p.Pro2178Arg)
c.4517C>G (p.Pro1506Arg)
c.2207C>G (p.Pro736Arg)
n.6906C>G
18g.23905544C>TCA402051317LAMA3c.1811C>T (p.Pro604Leu)
c.6638C>T (p.Pro2213Leu)
c.3530C>T (p.Pro1177Leu)
c.6470C>T (p.Pro2157Leu)
c.1416C>T
c.1643C>T (p.Pro548Leu)
n.1216C>T
c.6665C>T (p.Pro2222Leu)
c.6656C>T (p.Pro2219Leu)
c.6647C>T (p.Pro2216Leu)
c.6533C>T (p.Pro2178Leu)
c.4517C>T (p.Pro1506Leu)
c.2207C>T (p.Pro736Leu)
n.6906C>T
 dbSNP gnomAD v4
18g.23905545A>CCA503336568LAMA3c.1812A>C (p.Pro604=)
c.6639A>C (p.Pro2213=)
c.3531A>C (p.Pro1177=)
c.6471A>C (p.Pro2157=)
c.1417A>C
c.1644A>C (p.Pro548=)
n.1217A>C
c.6666A>C (p.Pro2222=)
c.6657A>C (p.Pro2219=)
c.6648A>C (p.Pro2216=)
c.6534A>C (p.Pro2178=)
c.4518A>C (p.Pro1506=)
c.2208A>C (p.Pro736=)
n.6907A>C
18g.23905545A>GCA503336570LAMA3c.1812A>G (p.Pro604=)
c.6639A>G (p.Pro2213=)
c.3531A>G (p.Pro1177=)
c.6471A>G (p.Pro2157=)
c.1417A>G
c.1644A>G (p.Pro548=)
n.1217A>G
c.6666A>G (p.Pro2222=)
c.6657A>G (p.Pro2219=)
c.6648A>G (p.Pro2216=)
c.6534A>G (p.Pro2178=)
c.4518A>G (p.Pro1506=)
c.2208A>G (p.Pro736=)
n.6907A>G
18g.23905545A>TCA503336569LAMA3c.1812A>T (p.Pro604=)
c.6639A>T (p.Pro2213=)
c.3531A>T (p.Pro1177=)
c.6471A>T (p.Pro2157=)
c.1417A>T
c.1644A>T (p.Pro548=)
n.1217A>T
c.6666A>T (p.Pro2222=)
c.6657A>T (p.Pro2219=)
c.6648A>T (p.Pro2216=)
c.6534A>T (p.Pro2178=)
c.4518A>T (p.Pro1506=)
c.2208A>T (p.Pro736=)
n.6907A>T
18g.23905546A>CCA503336571LAMA3c.1813A>C (p.Arg605=)
c.6640A>C (p.Arg2214=)
c.3532A>C (p.Arg1178=)
c.6472A>C (p.Arg2158=)
c.1418A>C
c.1645A>C (p.Arg549=)
n.1218A>C
c.6667A>C (p.Arg2223=)
c.6658A>C (p.Arg2220=)
c.6649A>C (p.Arg2217=)
c.6535A>C (p.Arg2179=)
c.4519A>C (p.Arg1507=)
c.2209A>C (p.Arg737=)
n.6908A>C
18g.23905546A>GCA402051319LAMA3c.1813A>G (p.Arg605Gly)
c.6640A>G (p.Arg2214Gly)
c.3532A>G (p.Arg1178Gly)
c.6472A>G (p.Arg2158Gly)
c.1418A>G
c.1645A>G (p.Arg549Gly)
n.1218A>G
c.6667A>G (p.Arg2223Gly)
c.6658A>G (p.Arg2220Gly)
c.6649A>G (p.Arg2217Gly)
c.6535A>G (p.Arg2179Gly)
c.4519A>G (p.Arg1507Gly)
c.2209A>G (p.Arg737Gly)
n.6908A>G
18g.23905546A>TCA402051320LAMA3c.1813A>T (p.Arg605Ter)
c.6640A>T (p.Arg2214Ter)
c.3532A>T (p.Arg1178Ter)
c.6472A>T (p.Arg2158Ter)
c.1418A>T
c.1645A>T (p.Arg549Ter)
n.1218A>T
c.6667A>T (p.Arg2223Ter)
c.6658A>T (p.Arg2220Ter)
c.6649A>T (p.Arg2217Ter)
c.6535A>T (p.Arg2179Ter)
c.4519A>T (p.Arg1507Ter)
c.2209A>T (p.Arg737Ter)
n.6908A>T
18g.23905547G>ACA402051321LAMA3c.1814G>A (p.Arg605Lys)
c.6641G>A (p.Arg2214Lys)
c.3533G>A (p.Arg1178Lys)
c.6473G>A (p.Arg2158Lys)
c.1419G>A
c.1646G>A (p.Arg549Lys)
n.1219G>A
c.6668G>A (p.Arg2223Lys)
c.6659G>A (p.Arg2220Lys)
c.6650G>A (p.Arg2217Lys)
c.6536G>A (p.Arg2179Lys)
c.4520G>A (p.Arg1507Lys)
c.2210G>A (p.Arg737Lys)
n.6909G>A
18g.23905547G>CCA402051323LAMA3c.1814G>C (p.Arg605Thr)
c.6641G>C (p.Arg2214Thr)
c.3533G>C (p.Arg1178Thr)
c.6473G>C (p.Arg2158Thr)
c.1419G>C
c.1646G>C (p.Arg549Thr)
n.1219G>C
c.6668G>C (p.Arg2223Thr)
c.6659G>C (p.Arg2220Thr)
c.6650G>C (p.Arg2217Thr)
c.6536G>C (p.Arg2179Thr)
c.4520G>C (p.Arg1507Thr)
c.2210G>C (p.Arg737Thr)
n.6909G>C
18g.23905547G>TCA402051322LAMA3c.1814G>T (p.Arg605Ile)
c.6641G>T (p.Arg2214Ile)
c.3533G>T (p.Arg1178Ile)
c.6473G>T (p.Arg2158Ile)
c.1419G>T
c.1646G>T (p.Arg549Ile)
n.1219G>T
c.6668G>T (p.Arg2223Ile)
c.6659G>T (p.Arg2220Ile)
c.6650G>T (p.Arg2217Ile)
c.6536G>T (p.Arg2179Ile)
c.4520G>T (p.Arg1507Ile)
c.2210G>T (p.Arg737Ile)
n.6909G>T
18g.23905548A=CA2290325048LAMA3c.1815A= (p.Arg605=)
c.6642A= (p.Arg2214=)
c.3534A= (p.Arg1178=)
c.6474A= (p.Arg2158=)
c.1420A=
c.1647A= (p.Arg549=)
n.1220A=
c.6669A= (p.Arg2223=)
c.6660A= (p.Arg2220=)
c.6651A= (p.Arg2217=)
c.6537A= (p.Arg2179=)
c.4521A= (p.Arg1507=)
c.2211A= (p.Arg737=)
n.6910A=
18g.23905548A>CCA402051324LAMA3c.1815A>C (p.Arg605Ser)
c.6642A>C (p.Arg2214Ser)
c.3534A>C (p.Arg1178Ser)
c.6474A>C (p.Arg2158Ser)
c.1420A>C
c.1647A>C (p.Arg549Ser)
n.1220A>C
c.6669A>C (p.Arg2223Ser)
c.6660A>C (p.Arg2220Ser)
c.6651A>C (p.Arg2217Ser)
c.6537A>C (p.Arg2179Ser)
c.4521A>C (p.Arg1507Ser)
c.2211A>C (p.Arg737Ser)
n.6910A>C
18g.23905548A>GCA503336575LAMA3c.1815A>G (p.Arg605=)
c.6642A>G (p.Arg2214=)
c.3534A>G (p.Arg1178=)
c.6474A>G (p.Arg2158=)
c.1420A>G
c.1647A>G (p.Arg549=)
n.1220A>G
c.6669A>G (p.Arg2223=)
c.6660A>G (p.Arg2220=)
c.6651A>G (p.Arg2217=)
c.6537A>G (p.Arg2179=)
c.4521A>G (p.Arg1507=)
c.2211A>G (p.Arg737=)
n.6910A>G
 dbSNP gnomAD v3 gnomAD v4
18g.23905548A>TCA402051325LAMA3c.1815A>T (p.Arg605Ser)
c.6642A>T (p.Arg2214Ser)
c.3534A>T (p.Arg1178Ser)
c.6474A>T (p.Arg2158Ser)
c.1420A>T
c.1647A>T (p.Arg549Ser)
n.1220A>T
c.6669A>T (p.Arg2223Ser)
c.6660A>T (p.Arg2220Ser)
c.6651A>T (p.Arg2217Ser)
c.6537A>T (p.Arg2179Ser)
c.4521A>T (p.Arg1507Ser)
c.2211A>T (p.Arg737Ser)
n.6910A>T
18g.23905549A=CA2290325049LAMA3c.1816A= (p.Lys606=)
c.6643A= (p.Lys2215=)
c.3535A= (p.Lys1179=)
c.6475A= (p.Lys2159=)
c.1421A=
c.1648A= (p.Lys550=)
n.1221A=
c.6670A= (p.Lys2224=)
c.6661A= (p.Lys2221=)
c.6652A= (p.Lys2218=)
c.6538A= (p.Lys2180=)
c.4522A= (p.Lys1508=)
c.2212A= (p.Lys738=)
n.6911A=
18g.23905549A>CCA402051326LAMA3c.1816A>C (p.Lys606Gln)
c.6643A>C (p.Lys2215Gln)
c.3535A>C (p.Lys1179Gln)
c.6475A>C (p.Lys2159Gln)
c.1421A>C
c.1648A>C (p.Lys550Gln)
n.1221A>C
c.6670A>C (p.Lys2224Gln)
c.6661A>C (p.Lys2221Gln)
c.6652A>C (p.Lys2218Gln)
c.6538A>C (p.Lys2180Gln)
c.4522A>C (p.Lys1508Gln)
c.2212A>C (p.Lys738Gln)
n.6911A>C
18g.23905549A>GCA8916453LAMA3c.1816A>G (p.Lys606Glu)
c.6643A>G (p.Lys2215Glu)
c.3535A>G (p.Lys1179Glu)
c.6475A>G (p.Lys2159Glu)
c.1421A>G
c.1648A>G (p.Lys550Glu)
n.1221A>G
c.6670A>G (p.Lys2224Glu)
c.6661A>G (p.Lys2221Glu)
c.6652A>G (p.Lys2218Glu)
c.6538A>G (p.Lys2180Glu)
c.4522A>G (p.Lys1508Glu)
c.2212A>G (p.Lys738Glu)
n.6911A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23905549A>TCA402051327LAMA3c.1816A>T (p.Lys606Ter)
c.6643A>T (p.Lys2215Ter)
c.3535A>T (p.Lys1179Ter)
c.6475A>T (p.Lys2159Ter)
c.1421A>T
c.1648A>T (p.Lys550Ter)
n.1221A>T
c.6670A>T (p.Lys2224Ter)
c.6661A>T (p.Lys2221Ter)
c.6652A>T (p.Lys2218Ter)
c.6538A>T (p.Lys2180Ter)
c.4522A>T (p.Lys1508Ter)
c.2212A>T (p.Lys738Ter)
n.6911A>T
18g.23905550A>CCA402051328LAMA3c.1817A>C (p.Lys606Thr)
c.6644A>C (p.Lys2215Thr)
c.3536A>C (p.Lys1179Thr)
c.6476A>C (p.Lys2159Thr)
c.1422A>C
c.1649A>C (p.Lys550Thr)
n.1222A>C
c.6671A>C (p.Lys2224Thr)
c.6662A>C (p.Lys2221Thr)
c.6653A>C (p.Lys2218Thr)
c.6539A>C (p.Lys2180Thr)
c.4523A>C (p.Lys1508Thr)
c.2213A>C (p.Lys738Thr)
n.6912A>C
18g.23905550A>GCA402051329LAMA3c.1817A>G (p.Lys606Arg)
c.6644A>G (p.Lys2215Arg)
c.3536A>G (p.Lys1179Arg)
c.6476A>G (p.Lys2159Arg)
c.1422A>G
c.1649A>G (p.Lys550Arg)
n.1222A>G
c.6671A>G (p.Lys2224Arg)
c.6662A>G (p.Lys2221Arg)
c.6653A>G (p.Lys2218Arg)
c.6539A>G (p.Lys2180Arg)
c.4523A>G (p.Lys1508Arg)
c.2213A>G (p.Lys738Arg)
n.6912A>G
18g.23905550A>TCA402051330LAMA3c.1817A>T (p.Lys606Ile)
c.6644A>T (p.Lys2215Ile)
c.3536A>T (p.Lys1179Ile)
c.6476A>T (p.Lys2159Ile)
c.1422A>T
c.1649A>T (p.Lys550Ile)
n.1222A>T
c.6671A>T (p.Lys2224Ile)
c.6662A>T (p.Lys2221Ile)
c.6653A>T (p.Lys2218Ile)
c.6539A>T (p.Lys2180Ile)
c.4523A>T (p.Lys1508Ile)
c.2213A>T (p.Lys738Ile)
n.6912A>T
18g.23905551A>CCA402051331LAMA3c.1818A>C (p.Lys606Asn)
c.6645A>C (p.Lys2215Asn)
c.3537A>C (p.Lys1179Asn)
c.6477A>C (p.Lys2159Asn)
c.1423A>C
c.1650A>C (p.Lys550Asn)
n.1223A>C
c.6672A>C (p.Lys2224Asn)
c.6663A>C (p.Lys2221Asn)
c.6654A>C (p.Lys2218Asn)
c.6540A>C (p.Lys2180Asn)
c.4524A>C (p.Lys1508Asn)
c.2214A>C (p.Lys738Asn)
n.6913A>C
18g.23905551A>GCA503336577LAMA3c.1818A>G (p.Lys606=)
c.6645A>G (p.Lys2215=)
c.3537A>G (p.Lys1179=)
c.6477A>G (p.Lys2159=)
c.1423A>G
c.1650A>G (p.Lys550=)
n.1223A>G
c.6672A>G (p.Lys2224=)
c.6663A>G (p.Lys2221=)
c.6654A>G (p.Lys2218=)
c.6540A>G (p.Lys2180=)
c.4524A>G (p.Lys1508=)
c.2214A>G (p.Lys738=)
n.6913A>G
18g.23905551A>TCA402051332LAMA3c.1818A>T (p.Lys606Asn)
c.6645A>T (p.Lys2215Asn)
c.3537A>T (p.Lys1179Asn)
c.6477A>T (p.Lys2159Asn)
c.1423A>T
c.1650A>T (p.Lys550Asn)
n.1223A>T
c.6672A>T (p.Lys2224Asn)
c.6663A>T (p.Lys2221Asn)
c.6654A>T (p.Lys2218Asn)
c.6540A>T (p.Lys2180Asn)
c.4524A>T (p.Lys1508Asn)
c.2214A>T (p.Lys738Asn)
n.6913A>T
18g.23905552G>ACA402051335LAMA3c.1819G>A (p.Ala607Thr)
c.6646G>A (p.Ala2216Thr)
c.3538G>A (p.Ala1180Thr)
c.6478G>A (p.Ala2160Thr)
c.1424G>A
c.1651G>A (p.Ala551Thr)
n.1224G>A
c.6673G>A (p.Ala2225Thr)
c.6664G>A (p.Ala2222Thr)
c.6655G>A (p.Ala2219Thr)
c.6541G>A (p.Ala2181Thr)
c.4525G>A (p.Ala1509Thr)
c.2215G>A (p.Ala739Thr)
n.6914G>A
18g.23905552G>CCA402051334LAMA3c.1819G>C (p.Ala607Pro)
c.6646G>C (p.Ala2216Pro)
c.3538G>C (p.Ala1180Pro)
c.6478G>C (p.Ala2160Pro)
c.1424G>C
c.1651G>C (p.Ala551Pro)
n.1224G>C
c.6673G>C (p.Ala2225Pro)
c.6664G>C (p.Ala2222Pro)
c.6655G>C (p.Ala2219Pro)
c.6541G>C (p.Ala2181Pro)
c.4525G>C (p.Ala1509Pro)
c.2215G>C (p.Ala739Pro)
n.6914G>C
18g.23905552G>TCA402051333LAMA3c.1819G>T (p.Ala607Ser)
c.6646G>T (p.Ala2216Ser)
c.3538G>T (p.Ala1180Ser)
c.6478G>T (p.Ala2160Ser)
c.1424G>T
c.1651G>T (p.Ala551Ser)
n.1224G>T
c.6673G>T (p.Ala2225Ser)
c.6664G>T (p.Ala2222Ser)
c.6655G>T (p.Ala2219Ser)
c.6541G>T (p.Ala2181Ser)
c.4525G>T (p.Ala1509Ser)
c.2215G>T (p.Ala739Ser)
n.6914G>T
18g.23905553C>ACA402051336LAMA3c.1820C>A (p.Ala607Asp)
c.6647C>A (p.Ala2216Asp)
c.3539C>A (p.Ala1180Asp)
c.6479C>A (p.Ala2160Asp)
c.1425C>A
c.1652C>A (p.Ala551Asp)
n.1225C>A
c.6674C>A (p.Ala2225Asp)
c.6665C>A (p.Ala2222Asp)
c.6656C>A (p.Ala2219Asp)
c.6542C>A (p.Ala2181Asp)
c.4526C>A (p.Ala1509Asp)
c.2216C>A (p.Ala739Asp)
n.6915C>A
18g.23905553C>GCA402051337LAMA3c.1820C>G (p.Ala607Gly)
c.6647C>G (p.Ala2216Gly)
c.3539C>G (p.Ala1180Gly)
c.6479C>G (p.Ala2160Gly)
c.1425C>G
c.1652C>G (p.Ala551Gly)
n.1225C>G
c.6674C>G (p.Ala2225Gly)
c.6665C>G (p.Ala2222Gly)
c.6656C>G (p.Ala2219Gly)
c.6542C>G (p.Ala2181Gly)
c.4526C>G (p.Ala1509Gly)
c.2216C>G (p.Ala739Gly)
n.6915C>G
18g.23905553C>TCA402051338LAMA3c.1820C>T (p.Ala607Val)
c.6647C>T (p.Ala2216Val)
c.3539C>T (p.Ala1180Val)
c.6479C>T (p.Ala2160Val)
c.1425C>T
c.1652C>T (p.Ala551Val)
n.1225C>T
c.6674C>T (p.Ala2225Val)
c.6665C>T (p.Ala2222Val)
c.6656C>T (p.Ala2219Val)
c.6542C>T (p.Ala2181Val)
c.4526C>T (p.Ala1509Val)
c.2216C>T (p.Ala739Val)
n.6915C>T
18g.23905554T>ACA503336581LAMA3c.1821T>A (p.Ala607=)
c.6648T>A (p.Ala2216=)
c.3540T>A (p.Ala1180=)
c.6480T>A (p.Ala2160=)
c.1426T>A
c.1653T>A (p.Ala551=)
n.1226T>A
c.6675T>A (p.Ala2225=)
c.6666T>A (p.Ala2222=)
c.6657T>A (p.Ala2219=)
c.6543T>A (p.Ala2181=)
c.4527T>A (p.Ala1509=)
c.2217T>A (p.Ala739=)
n.6916T>A
18g.23905554T>CCA503336579LAMA3c.1821T>C (p.Ala607=)
c.6648T>C (p.Ala2216=)
c.3540T>C (p.Ala1180=)
c.6480T>C (p.Ala2160=)
c.1426T>C
c.1653T>C (p.Ala551=)
n.1226T>C
c.6675T>C (p.Ala2225=)
c.6666T>C (p.Ala2222=)
c.6657T>C (p.Ala2219=)
c.6543T>C (p.Ala2181=)
c.4527T>C (p.Ala1509=)
c.2217T>C (p.Ala739=)
n.6916T>C
18g.23905554T>GCA503336580LAMA3c.1821T>G (p.Ala607=)
c.6648T>G (p.Ala2216=)
c.3540T>G (p.Ala1180=)
c.6480T>G (p.Ala2160=)
c.1426T>G
c.1653T>G (p.Ala551=)
n.1226T>G
c.6675T>G (p.Ala2225=)
c.6666T>G (p.Ala2222=)
c.6657T>G (p.Ala2219=)
c.6543T>G (p.Ala2181=)
c.4527T>G (p.Ala1509=)
c.2217T>G (p.Ala739=)
n.6916T>G
18g.23905555A=CA2290325050LAMA3c.1822A= (p.Lys608=)
c.6649A= (p.Lys2217=)
c.3541A= (p.Lys1181=)
c.6481A= (p.Lys2161=)
c.1427A=
c.1654A= (p.Lys552=)
n.1227A=
c.6676A= (p.Lys2226=)
c.6667A= (p.Lys2223=)
c.6658A= (p.Lys2220=)
c.6544A= (p.Lys2182=)
c.4528A= (p.Lys1510=)
c.2218A= (p.Lys740=)
n.6917A=
18g.23905555A>CCA402051339LAMA3c.1822A>C (p.Lys608Gln)
c.6649A>C (p.Lys2217Gln)
c.3541A>C (p.Lys1181Gln)
c.6481A>C (p.Lys2161Gln)
c.1427A>C
c.1654A>C (p.Lys552Gln)
n.1227A>C
c.6676A>C (p.Lys2226Gln)
c.6667A>C (p.Lys2223Gln)
c.6658A>C (p.Lys2220Gln)
c.6544A>C (p.Lys2182Gln)
c.4528A>C (p.Lys1510Gln)
c.2218A>C (p.Lys740Gln)
n.6917A>C
18g.23905555A>GCA8916454LAMA3c.1822A>G (p.Lys608Glu)
c.6649A>G (p.Lys2217Glu)
c.3541A>G (p.Lys1181Glu)
c.6481A>G (p.Lys2161Glu)
c.1427A>G
c.1654A>G (p.Lys552Glu)
n.1227A>G
c.6676A>G (p.Lys2226Glu)
c.6667A>G (p.Lys2223Glu)
c.6658A>G (p.Lys2220Glu)
c.6544A>G (p.Lys2182Glu)
c.4528A>G (p.Lys1510Glu)
c.2218A>G (p.Lys740Glu)
n.6917A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23905555A>TCA402051340LAMA3c.1822A>T (p.Lys608Ter)
c.6649A>T (p.Lys2217Ter)
c.3541A>T (p.Lys1181Ter)
c.6481A>T (p.Lys2161Ter)
c.1427A>T
c.1654A>T (p.Lys552Ter)
n.1227A>T
c.6676A>T (p.Lys2226Ter)
c.6667A>T (p.Lys2223Ter)
c.6658A>T (p.Lys2220Ter)
c.6544A>T (p.Lys2182Ter)
c.4528A>T (p.Lys1510Ter)
c.2218A>T (p.Lys740Ter)
n.6917A>T
18g.23905558dupCA2840937934LAMA3c.1825dup (p.Thr609AsnfsTer7)
c.6652dup (p.Thr2218AsnfsTer7)
c.3544dup (p.Thr1182AsnfsTer7)
c.6484dup (p.Thr2162AsnfsTer7)
c.1430dup
c.1657dup (p.Thr553AsnfsTer7)
n.1230dup
c.6679dup (p.Thr2227AsnfsTer7)
c.6670dup (p.Thr2224AsnfsTer7)
c.6661dup (p.Thr2221AsnfsTer7)
c.6547dup (p.Thr2183AsnfsTer7)
c.4531dup (p.Thr1511AsnfsTer7)
c.2221dup (p.Thr741AsnfsTer7)
n.6920dup
18g.23905556A>CCA402051341LAMA3c.1823A>C (p.Lys608Thr)
c.6650A>C (p.Lys2217Thr)
c.3542A>C (p.Lys1181Thr)
c.6482A>C (p.Lys2161Thr)
c.1428A>C
c.1655A>C (p.Lys552Thr)
n.1228A>C
c.6677A>C (p.Lys2226Thr)
c.6668A>C (p.Lys2223Thr)
c.6659A>C (p.Lys2220Thr)
c.6545A>C (p.Lys2182Thr)
c.4529A>C (p.Lys1510Thr)
c.2219A>C (p.Lys740Thr)
n.6918A>C
18g.23905556A>GCA402051342LAMA3c.1823A>G (p.Lys608Arg)
c.6650A>G (p.Lys2217Arg)
c.3542A>G (p.Lys1181Arg)
c.6482A>G (p.Lys2161Arg)
c.1428A>G
c.1655A>G (p.Lys552Arg)
n.1228A>G
c.6677A>G (p.Lys2226Arg)
c.6668A>G (p.Lys2223Arg)
c.6659A>G (p.Lys2220Arg)
c.6545A>G (p.Lys2182Arg)
c.4529A>G (p.Lys1510Arg)
c.2219A>G (p.Lys740Arg)
n.6918A>G
18g.23905556A>TCA402051343LAMA3c.1823A>T (p.Lys608Ile)
c.6650A>T (p.Lys2217Ile)
c.3542A>T (p.Lys1181Ile)
c.6482A>T (p.Lys2161Ile)
c.1428A>T
c.1655A>T (p.Lys552Ile)
n.1228A>T
c.6677A>T (p.Lys2226Ile)
c.6668A>T (p.Lys2223Ile)
c.6659A>T (p.Lys2220Ile)
c.6545A>T (p.Lys2182Ile)
c.4529A>T (p.Lys1510Ile)
c.2219A>T (p.Lys740Ile)
n.6918A>T
18g.23905557A>CCA402051344LAMA3c.1824A>C (p.Lys608Asn)
c.6651A>C (p.Lys2217Asn)
c.3543A>C (p.Lys1181Asn)
c.6483A>C (p.Lys2161Asn)
c.1429A>C
c.1656A>C (p.Lys552Asn)
n.1229A>C
c.6678A>C (p.Lys2226Asn)
c.6669A>C (p.Lys2223Asn)
c.6660A>C (p.Lys2220Asn)
c.6546A>C (p.Lys2182Asn)
c.4530A>C (p.Lys1510Asn)
c.2220A>C (p.Lys740Asn)
n.6919A>C
18g.23905557A>GCA503336585LAMA3c.1824A>G (p.Lys608=)
c.6651A>G (p.Lys2217=)
c.3543A>G (p.Lys1181=)
c.6483A>G (p.Lys2161=)
c.1429A>G
c.1656A>G (p.Lys552=)
n.1229A>G
c.6678A>G (p.Lys2226=)
c.6669A>G (p.Lys2223=)
c.6660A>G (p.Lys2220=)
c.6546A>G (p.Lys2182=)
c.4530A>G (p.Lys1510=)
c.2220A>G (p.Lys740=)
n.6919A>G
18g.23905557A>TCA402051345LAMA3c.1824A>T (p.Lys608Asn)
c.6651A>T (p.Lys2217Asn)
c.3543A>T (p.Lys1181Asn)
c.6483A>T (p.Lys2161Asn)
c.1429A>T
c.1656A>T (p.Lys552Asn)
n.1229A>T
c.6678A>T (p.Lys2226Asn)
c.6669A>T (p.Lys2223Asn)
c.6660A>T (p.Lys2220Asn)
c.6546A>T (p.Lys2182Asn)
c.4530A>T (p.Lys1510Asn)
c.2220A>T (p.Lys740Asn)
n.6919A>T
18g.23905558A>CCA402051347LAMA3c.1825A>C (p.Thr609Pro)
c.6652A>C (p.Thr2218Pro)
c.3544A>C (p.Thr1182Pro)
c.6484A>C (p.Thr2162Pro)
c.1430A>C
c.1657A>C (p.Thr553Pro)
n.1230A>C
c.6679A>C (p.Thr2227Pro)
c.6670A>C (p.Thr2224Pro)
c.6661A>C (p.Thr2221Pro)
c.6547A>C (p.Thr2183Pro)
c.4531A>C (p.Thr1511Pro)
c.2221A>C (p.Thr741Pro)
n.6920A>C
18g.23905558A>GCA402051348LAMA3c.1825A>G (p.Thr609Ala)
c.6652A>G (p.Thr2218Ala)
c.3544A>G (p.Thr1182Ala)
c.6484A>G (p.Thr2162Ala)
c.1430A>G
c.1657A>G (p.Thr553Ala)
n.1230A>G
c.6679A>G (p.Thr2227Ala)
c.6670A>G (p.Thr2224Ala)
c.6661A>G (p.Thr2221Ala)
c.6547A>G (p.Thr2183Ala)
c.4531A>G (p.Thr1511Ala)
c.2221A>G (p.Thr741Ala)
n.6920A>G
18g.23905558A>TCA402051346LAMA3c.1825A>T (p.Thr609Ser)
c.6652A>T (p.Thr2218Ser)
c.3544A>T (p.Thr1182Ser)
c.6484A>T (p.Thr2162Ser)
c.1430A>T
c.1657A>T (p.Thr553Ser)
n.1230A>T
c.6679A>T (p.Thr2227Ser)
c.6670A>T (p.Thr2224Ser)
c.6661A>T (p.Thr2221Ser)
c.6547A>T (p.Thr2183Ser)
c.4531A>T (p.Thr1511Ser)
c.2221A>T (p.Thr741Ser)
n.6920A>T
18g.23905559C>ACA402051349LAMA3c.1826C>A (p.Thr609Asn)
c.6653C>A (p.Thr2218Asn)
c.3545C>A (p.Thr1182Asn)
c.6485C>A (p.Thr2162Asn)
c.1431C>A
c.1658C>A (p.Thr553Asn)
n.1231C>A
c.6680C>A (p.Thr2227Asn)
c.6671C>A (p.Thr2224Asn)
c.6662C>A (p.Thr2221Asn)
c.6548C>A (p.Thr2183Asn)
c.4532C>A (p.Thr1511Asn)
c.2222C>A (p.Thr741Asn)
n.6921C>A
18g.23905559C>GCA402051350LAMA3c.1826C>G (p.Thr609Ser)
c.6653C>G (p.Thr2218Ser)
c.3545C>G (p.Thr1182Ser)
c.6485C>G (p.Thr2162Ser)
c.1431C>G
c.1658C>G (p.Thr553Ser)
n.1231C>G
c.6680C>G (p.Thr2227Ser)
c.6671C>G (p.Thr2224Ser)
c.6662C>G (p.Thr2221Ser)
c.6548C>G (p.Thr2183Ser)
c.4532C>G (p.Thr1511Ser)
c.2222C>G (p.Thr741Ser)
n.6921C>G
18g.23905559C>TCA402051351LAMA3c.1826C>T (p.Thr609Ile)
c.6653C>T (p.Thr2218Ile)
c.3545C>T (p.Thr1182Ile)
c.6485C>T (p.Thr2162Ile)
c.1431C>T
c.1658C>T (p.Thr553Ile)
n.1231C>T
c.6680C>T (p.Thr2227Ile)
c.6671C>T (p.Thr2224Ile)
c.6662C>T (p.Thr2221Ile)
c.6548C>T (p.Thr2183Ile)
c.4532C>T (p.Thr1511Ile)
c.2222C>T (p.Thr741Ile)
n.6921C>T
18g.23905560C>ACA503336588LAMA3c.1827C>A (p.Thr609=)
c.6654C>A (p.Thr2218=)
c.3546C>A (p.Thr1182=)
c.6486C>A (p.Thr2162=)
c.1432C>A
c.1659C>A (p.Thr553=)
n.1232C>A
c.6681C>A (p.Thr2227=)
c.6672C>A (p.Thr2224=)
c.6663C>A (p.Thr2221=)
c.6549C>A (p.Thr2183=)
c.4533C>A (p.Thr1511=)
c.2223C>A (p.Thr741=)
n.6922C>A
18g.23905560C>GCA503336587LAMA3c.1827C>G (p.Thr609=)
c.6654C>G (p.Thr2218=)
c.3546C>G (p.Thr1182=)
c.6486C>G (p.Thr2162=)
c.1432C>G
c.1659C>G (p.Thr553=)
n.1232C>G
c.6681C>G (p.Thr2227=)
c.6672C>G (p.Thr2224=)
c.6663C>G (p.Thr2221=)
c.6549C>G (p.Thr2183=)
c.4533C>G (p.Thr1511=)
c.2223C>G (p.Thr741=)
n.6922C>G
 ClinVar dbSNP
18g.23905560C>TCA503336589LAMA3c.1827C>T (p.Thr609=)
c.6654C>T (p.Thr2218=)
c.3546C>T (p.Thr1182=)
c.6486C>T (p.Thr2162=)
c.1432C>T
c.1659C>T (p.Thr553=)
n.1232C>T
c.6681C>T (p.Thr2227=)
c.6672C>T (p.Thr2224=)
c.6663C>T (p.Thr2221=)
c.6549C>T (p.Thr2183=)
c.4533C>T (p.Thr1511=)
c.2223C>T (p.Thr741=)
n.6922C>T
 gnomAD v4
18g.23905561C>ACA402051352LAMA3c.1828C>A (p.Leu610Met)
c.6655C>A (p.Leu2219Met)
c.3547C>A (p.Leu1183Met)
c.6487C>A (p.Leu2163Met)
c.1433C>A
c.1660C>A (p.Leu554Met)
n.1233C>A
c.6682C>A (p.Leu2228Met)
c.6673C>A (p.Leu2225Met)
c.6664C>A (p.Leu2222Met)
c.6550C>A (p.Leu2184Met)
c.4534C>A (p.Leu1512Met)
c.2224C>A (p.Leu742Met)
n.6923C>A
18g.23905561C>GCA402051353LAMA3c.1828C>G (p.Leu610Val)
c.6655C>G (p.Leu2219Val)
c.3547C>G (p.Leu1183Val)
c.6487C>G (p.Leu2163Val)
c.1433C>G
c.1660C>G (p.Leu554Val)
n.1233C>G
c.6682C>G (p.Leu2228Val)
c.6673C>G (p.Leu2225Val)
c.6664C>G (p.Leu2222Val)
c.6550C>G (p.Leu2184Val)
c.4534C>G (p.Leu1512Val)
c.2224C>G (p.Leu742Val)
n.6923C>G
18g.23905561C>TCA503336590LAMA3c.1828C>T (p.Leu610=)
c.6655C>T (p.Leu2219=)
c.3547C>T (p.Leu1183=)
c.6487C>T (p.Leu2163=)
c.1433C>T
c.1660C>T (p.Leu554=)
n.1233C>T
c.6682C>T (p.Leu2228=)
c.6673C>T (p.Leu2225=)
c.6664C>T (p.Leu2222=)
c.6550C>T (p.Leu2184=)
c.4534C>T (p.Leu1512=)
c.2224C>T (p.Leu742=)
n.6923C>T
18g.23905562T>ACA402051354LAMA3c.1829T>A (p.Leu610Gln)
c.6656T>A (p.Leu2219Gln)
c.3548T>A (p.Leu1183Gln)
c.6488T>A (p.Leu2163Gln)
c.1434T>A
c.1661T>A (p.Leu554Gln)
n.1234T>A
c.6683T>A (p.Leu2228Gln)
c.6674T>A (p.Leu2225Gln)
c.6665T>A (p.Leu2222Gln)
c.6551T>A (p.Leu2184Gln)
c.4535T>A (p.Leu1512Gln)
c.2225T>A (p.Leu742Gln)
n.6924T>A
18g.23905562T>CCA402051355LAMA3c.1829T>C (p.Leu610Pro)
c.6656T>C (p.Leu2219Pro)
c.3548T>C (p.Leu1183Pro)
c.6488T>C (p.Leu2163Pro)
c.1434T>C
c.1661T>C (p.Leu554Pro)
n.1234T>C
c.6683T>C (p.Leu2228Pro)
c.6674T>C (p.Leu2225Pro)
c.6665T>C (p.Leu2222Pro)
c.6551T>C (p.Leu2184Pro)
c.4535T>C (p.Leu1512Pro)
c.2225T>C (p.Leu742Pro)
n.6924T>C
18g.23905562T>GCA402051356LAMA3c.1829T>G (p.Leu610Arg)
c.6656T>G (p.Leu2219Arg)
c.3548T>G (p.Leu1183Arg)
c.6488T>G (p.Leu2163Arg)
c.1434T>G
c.1661T>G (p.Leu554Arg)
n.1234T>G
c.6683T>G (p.Leu2228Arg)
c.6674T>G (p.Leu2225Arg)
c.6665T>G (p.Leu2222Arg)
c.6551T>G (p.Leu2184Arg)
c.4535T>G (p.Leu1512Arg)
c.2225T>G (p.Leu742Arg)
n.6924T>G
18g.23905563G>ACA503336593LAMA3c.1830G>A (p.Leu610=)
c.6657G>A (p.Leu2219=)
c.3549G>A (p.Leu1183=)
c.6489G>A (p.Leu2163=)
c.1435G>A
c.1662G>A (p.Leu554=)
n.1235G>A
c.6684G>A (p.Leu2228=)
c.6675G>A (p.Leu2225=)
c.6666G>A (p.Leu2222=)
c.6552G>A (p.Leu2184=)
c.4536G>A (p.Leu1512=)
c.2226G>A (p.Leu742=)
n.6925G>A
18g.23905563G>CCA503336595LAMA3c.1830G>C (p.Leu610=)
c.6657G>C (p.Leu2219=)
c.3549G>C (p.Leu1183=)
c.6489G>C (p.Leu2163=)
c.1435G>C
c.1662G>C (p.Leu554=)
n.1235G>C
c.6684G>C (p.Leu2228=)
c.6675G>C (p.Leu2225=)
c.6666G>C (p.Leu2222=)
c.6552G>C (p.Leu2184=)
c.4536G>C (p.Leu1512=)
c.2226G>C (p.Leu742=)
n.6925G>C
18g.23905563G>TCA503336596LAMA3c.1830G>T (p.Leu610=)
c.6657G>T (p.Leu2219=)
c.3549G>T (p.Leu1183=)
c.6489G>T (p.Leu2163=)
c.1435G>T
c.1662G>T (p.Leu554=)
n.1235G>T
c.6684G>T (p.Leu2228=)
c.6675G>T (p.Leu2225=)
c.6666G>T (p.Leu2222=)
c.6552G>T (p.Leu2184=)
c.4536G>T (p.Leu1512=)
c.2226G>T (p.Leu742=)
n.6925G>T
 COSMIC COSMIC
18g.23905564A>CCA402051357LAMA3c.1831A>C (p.Ser611Arg)
c.6658A>C (p.Ser2220Arg)
c.3550A>C (p.Ser1184Arg)
c.6490A>C (p.Ser2164Arg)
c.1436A>C
c.1663A>C (p.Ser555Arg)
n.1236A>C
c.6685A>C (p.Ser2229Arg)
c.6676A>C (p.Ser2226Arg)
c.6667A>C (p.Ser2223Arg)
c.6553A>C (p.Ser2185Arg)
c.4537A>C (p.Ser1513Arg)
c.2227A>C (p.Ser743Arg)
n.6926A>C
18g.23905564A>GCA402051358LAMA3c.1831A>G (p.Ser611Gly)
c.6658A>G (p.Ser2220Gly)
c.3550A>G (p.Ser1184Gly)
c.6490A>G (p.Ser2164Gly)
c.1436A>G
c.1663A>G (p.Ser555Gly)
n.1236A>G
c.6685A>G (p.Ser2229Gly)
c.6676A>G (p.Ser2226Gly)
c.6667A>G (p.Ser2223Gly)
c.6553A>G (p.Ser2185Gly)
c.4537A>G (p.Ser1513Gly)
c.2227A>G (p.Ser743Gly)
n.6926A>G
18g.23905564A>TCA402051359LAMA3c.1831A>T (p.Ser611Cys)
c.6658A>T (p.Ser2220Cys)
c.3550A>T (p.Ser1184Cys)
c.6490A>T (p.Ser2164Cys)
c.1436A>T
c.1663A>T (p.Ser555Cys)
n.1236A>T
c.6685A>T (p.Ser2229Cys)
c.6676A>T (p.Ser2226Cys)
c.6667A>T (p.Ser2223Cys)
c.6553A>T (p.Ser2185Cys)
c.4537A>T (p.Ser1513Cys)
c.2227A>T (p.Ser743Cys)
n.6926A>T
18g.23905565G>ACA402051361LAMA3c.1832G>A (p.Ser611Asn)
c.6659G>A (p.Ser2220Asn)
c.3551G>A (p.Ser1184Asn)
c.6491G>A (p.Ser2164Asn)
c.1437G>A
c.1664G>A (p.Ser555Asn)
n.1237G>A
c.6686G>A (p.Ser2229Asn)
c.6677G>A (p.Ser2226Asn)
c.6668G>A (p.Ser2223Asn)
c.6554G>A (p.Ser2185Asn)
c.4538G>A (p.Ser1513Asn)
c.2228G>A (p.Ser743Asn)
n.6927G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23905565G>CCA402051362LAMA3c.1832G>C (p.Ser611Thr)
c.6659G>C (p.Ser2220Thr)
c.3551G>C (p.Ser1184Thr)
c.6491G>C (p.Ser2164Thr)
c.1437G>C
c.1664G>C (p.Ser555Thr)
n.1237G>C
c.6686G>C (p.Ser2229Thr)
c.6677G>C (p.Ser2226Thr)
c.6668G>C (p.Ser2223Thr)
c.6554G>C (p.Ser2185Thr)
c.4538G>C (p.Ser1513Thr)
c.2228G>C (p.Ser743Thr)
n.6927G>C
 dbSNP gnomAD v2
18g.23905565G=CA2290325051LAMA3c.1832G= (p.Ser611=)
c.6659G= (p.Ser2220=)
c.3551G= (p.Ser1184=)
c.6491G= (p.Ser2164=)
c.1437G=
c.1664G= (p.Ser555=)
n.1237G=
c.6686G= (p.Ser2229=)
c.6677G= (p.Ser2226=)
c.6668G= (p.Ser2223=)
c.6554G= (p.Ser2185=)
c.4538G= (p.Ser1513=)
c.2228G= (p.Ser743=)
n.6927G=
18g.23905565G>TCA402051360LAMA3c.1832G>T (p.Ser611Ile)
c.6659G>T (p.Ser2220Ile)
c.3551G>T (p.Ser1184Ile)
c.6491G>T (p.Ser2164Ile)
c.1437G>T
c.1664G>T (p.Ser555Ile)
n.1237G>T
c.6686G>T (p.Ser2229Ile)
c.6677G>T (p.Ser2226Ile)
c.6668G>T (p.Ser2223Ile)
c.6554G>T (p.Ser2185Ile)
c.4538G>T (p.Ser1513Ile)
c.2228G>T (p.Ser743Ile)
n.6927G>T
18g.23905566T>ACA402051363LAMA3c.1833T>A (p.Ser611Arg)
c.6660T>A (p.Ser2220Arg)
c.3552T>A (p.Ser1184Arg)
c.6492T>A (p.Ser2164Arg)
c.1438T>A
c.1665T>A (p.Ser555Arg)
n.1238T>A
c.6687T>A (p.Ser2229Arg)
c.6678T>A (p.Ser2226Arg)
c.6669T>A (p.Ser2223Arg)
c.6555T>A (p.Ser2185Arg)
c.4539T>A (p.Ser1513Arg)
c.2229T>A (p.Ser743Arg)
n.6928T>A
 COSMIC
18g.23905566T>CCA503336598LAMA3c.1833T>C (p.Ser611=)
c.6660T>C (p.Ser2220=)
c.3552T>C (p.Ser1184=)
c.6492T>C (p.Ser2164=)
c.1438T>C
c.1665T>C (p.Ser555=)
n.1238T>C
c.6687T>C (p.Ser2229=)
c.6678T>C (p.Ser2226=)
c.6669T>C (p.Ser2223=)
c.6555T>C (p.Ser2185=)
c.4539T>C (p.Ser1513=)
c.2229T>C (p.Ser743=)
n.6928T>C
18g.23905566T>GCA402051364LAMA3c.1833T>G (p.Ser611Arg)
c.6660T>G (p.Ser2220Arg)
c.3552T>G (p.Ser1184Arg)
c.6492T>G (p.Ser2164Arg)
c.1438T>G
c.1665T>G (p.Ser555Arg)
n.1238T>G
c.6687T>G (p.Ser2229Arg)
c.6678T>G (p.Ser2226Arg)
c.6669T>G (p.Ser2223Arg)
c.6555T>G (p.Ser2185Arg)
c.4539T>G (p.Ser1513Arg)
c.2229T>G (p.Ser743Arg)
n.6928T>G
18g.23905567T>ACA402051365LAMA3c.1834T>A (p.Ser612Thr)
c.6661T>A (p.Ser2221Thr)
c.3553T>A (p.Ser1185Thr)
c.6493T>A (p.Ser2165Thr)
c.1439T>A
c.1666T>A (p.Ser556Thr)
n.1239T>A
c.6688T>A (p.Ser2230Thr)
c.6679T>A (p.Ser2227Thr)
c.6670T>A (p.Ser2224Thr)
c.6556T>A (p.Ser2186Thr)
c.4540T>A (p.Ser1514Thr)
c.2230T>A (p.Ser744Thr)
n.6929T>A
18g.23905567T>CCA402051366LAMA3c.1834T>C (p.Ser612Pro)
c.6661T>C (p.Ser2221Pro)
c.3553T>C (p.Ser1185Pro)
c.6493T>C (p.Ser2165Pro)
c.1439T>C
c.1666T>C (p.Ser556Pro)
n.1239T>C
c.6688T>C (p.Ser2230Pro)
c.6679T>C (p.Ser2227Pro)
c.6670T>C (p.Ser2224Pro)
c.6556T>C (p.Ser2186Pro)
c.4540T>C (p.Ser1514Pro)
c.2230T>C (p.Ser744Pro)
n.6929T>C
18g.23905567T>GCA402051367LAMA3c.1834T>G (p.Ser612Ala)
c.6661T>G (p.Ser2221Ala)
c.3553T>G (p.Ser1185Ala)
c.6493T>G (p.Ser2165Ala)
c.1439T>G
c.1666T>G (p.Ser556Ala)
n.1239T>G
c.6688T>G (p.Ser2230Ala)
c.6679T>G (p.Ser2227Ala)
c.6670T>G (p.Ser2224Ala)
c.6556T>G (p.Ser2186Ala)
c.4540T>G (p.Ser1514Ala)
c.2230T>G (p.Ser744Ala)
n.6929T>G
18g.23905568C>ACA402051370LAMA3c.1835C>A (p.Ser612Tyr)
c.6662C>A (p.Ser2221Tyr)
c.3554C>A (p.Ser1185Tyr)
c.6494C>A (p.Ser2165Tyr)
c.1440C>A
c.1667C>A (p.Ser556Tyr)
n.1240C>A
c.6689C>A (p.Ser2230Tyr)
c.6680C>A (p.Ser2227Tyr)
c.6671C>A (p.Ser2224Tyr)
c.6557C>A (p.Ser2186Tyr)
c.4541C>A (p.Ser1514Tyr)
c.2231C>A (p.Ser744Tyr)
n.6930C>A
 gnomAD v4
18g.23905568C=CA2290325052LAMA3c.1835C= (p.Ser612=)
c.6662C= (p.Ser2221=)
c.3554C= (p.Ser1185=)
c.6494C= (p.Ser2165=)
c.1440C=
c.1667C= (p.Ser556=)
n.1240C=
c.6689C= (p.Ser2230=)
c.6680C= (p.Ser2227=)
c.6671C= (p.Ser2224=)
c.6557C= (p.Ser2186=)
c.4541C= (p.Ser1514=)
c.2231C= (p.Ser744=)
n.6930C=
18g.23905568C>GCA402051368LAMA3c.1835C>G (p.Ser612Cys)
c.6662C>G (p.Ser2221Cys)
c.3554C>G (p.Ser1185Cys)
c.6494C>G (p.Ser2165Cys)
c.1440C>G
c.1667C>G (p.Ser556Cys)
n.1240C>G
c.6689C>G (p.Ser2230Cys)
c.6680C>G (p.Ser2227Cys)
c.6671C>G (p.Ser2224Cys)
c.6557C>G (p.Ser2186Cys)
c.4541C>G (p.Ser1514Cys)
c.2231C>G (p.Ser744Cys)
n.6930C>G
 dbSNP gnomAD v4
18g.23905568C>TCA402051369LAMA3c.1835C>T (p.Ser612Phe)
c.6662C>T (p.Ser2221Phe)
c.3554C>T (p.Ser1185Phe)
c.6494C>T (p.Ser2165Phe)
c.1440C>T
c.1667C>T (p.Ser556Phe)
n.1240C>T
c.6689C>T (p.Ser2230Phe)
c.6680C>T (p.Ser2227Phe)
c.6671C>T (p.Ser2224Phe)
c.6557C>T (p.Ser2186Phe)
c.4541C>T (p.Ser1514Phe)
c.2231C>T (p.Ser744Phe)
n.6930C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23905569C>ACA503336599LAMA3c.1836C>A (p.Ser612=)
c.6663C>A (p.Ser2221=)
c.3555C>A (p.Ser1185=)
c.6495C>A (p.Ser2165=)
c.1441C>A
c.1668C>A (p.Ser556=)
n.1241C>A
c.6690C>A (p.Ser2230=)
c.6681C>A (p.Ser2227=)
c.6672C>A (p.Ser2224=)
c.6558C>A (p.Ser2186=)
c.4542C>A (p.Ser1514=)
c.2232C>A (p.Ser744=)
n.6931C>A
18g.23905569C>GCA503336600LAMA3c.1836C>G (p.Ser612=)
c.6663C>G (p.Ser2221=)
c.3555C>G (p.Ser1185=)
c.6495C>G (p.Ser2165=)
c.1441C>G
c.1668C>G (p.Ser556=)
n.1241C>G
c.6690C>G (p.Ser2230=)
c.6681C>G (p.Ser2227=)
c.6672C>G (p.Ser2224=)
c.6558C>G (p.Ser2186=)
c.4542C>G (p.Ser1514=)
c.2232C>G (p.Ser744=)
n.6931C>G
18g.23905569C>TCA503336602LAMA3c.1836C>T (p.Ser612=)
c.6663C>T (p.Ser2221=)
c.3555C>T (p.Ser1185=)
c.6495C>T (p.Ser2165=)
c.1441C>T
c.1668C>T (p.Ser556=)
n.1241C>T
c.6690C>T (p.Ser2230=)
c.6681C>T (p.Ser2227=)
c.6672C>T (p.Ser2224=)
c.6558C>T (p.Ser2186=)
c.4542C>T (p.Ser1514=)
c.2232C>T (p.Ser744=)
n.6931C>T
 gnomAD v4
18g.23905570A>CCA402051371LAMA3c.1837A>C (p.Asn613His)
c.6664A>C (p.Asn2222His)
c.3556A>C (p.Asn1186His)
c.6496A>C (p.Asn2166His)
c.1442A>C
c.1669A>C (p.Asn557His)
n.1242A>C
c.6691A>C (p.Asn2231His)
c.6682A>C (p.Asn2228His)
c.6673A>C (p.Asn2225His)
c.6559A>C (p.Asn2187His)
c.4543A>C (p.Asn1515His)
c.2233A>C (p.Asn745His)
n.6932A>C
18g.23905570A>GCA402051372LAMA3c.1837A>G (p.Asn613Asp)
c.6664A>G (p.Asn2222Asp)
c.3556A>G (p.Asn1186Asp)
c.6496A>G (p.Asn2166Asp)
c.1442A>G
c.1669A>G (p.Asn557Asp)
n.1242A>G
c.6691A>G (p.Asn2231Asp)
c.6682A>G (p.Asn2228Asp)
c.6673A>G (p.Asn2225Asp)
c.6559A>G (p.Asn2187Asp)
c.4543A>G (p.Asn1515Asp)
c.2233A>G (p.Asn745Asp)
n.6932A>G
18g.23905570A>TCA402051373LAMA3c.1837A>T (p.Asn613Tyr)
c.6664A>T (p.Asn2222Tyr)
c.3556A>T (p.Asn1186Tyr)
c.6496A>T (p.Asn2166Tyr)
c.1442A>T
c.1669A>T (p.Asn557Tyr)
n.1242A>T
c.6691A>T (p.Asn2231Tyr)
c.6682A>T (p.Asn2228Tyr)
c.6673A>T (p.Asn2225Tyr)
c.6559A>T (p.Asn2187Tyr)
c.4543A>T (p.Asn1515Tyr)
c.2233A>T (p.Asn745Tyr)
n.6932A>T
18g.23905571A=CA2290325053LAMA3c.1838A= (p.Asn613=)
c.6665A= (p.Asn2222=)
c.3557A= (p.Asn1186=)
c.6497A= (p.Asn2166=)
c.1443A=
c.1670A= (p.Asn557=)
n.1243A=
c.6692A= (p.Asn2231=)
c.6683A= (p.Asn2228=)
c.6674A= (p.Asn2225=)
c.6560A= (p.Asn2187=)
c.4544A= (p.Asn1515=)
c.2234A= (p.Asn745=)
n.6933A=
18g.23905571A>CCA402051374LAMA3c.1838A>C (p.Asn613Thr)
c.6665A>C (p.Asn2222Thr)
c.3557A>C (p.Asn1186Thr)
c.6497A>C (p.Asn2166Thr)
c.1443A>C
c.1670A>C (p.Asn557Thr)
n.1243A>C
c.6692A>C (p.Asn2231Thr)
c.6683A>C (p.Asn2228Thr)
c.6674A>C (p.Asn2225Thr)
c.6560A>C (p.Asn2187Thr)
c.4544A>C (p.Asn1515Thr)
c.2234A>C (p.Asn745Thr)
n.6933A>C
18g.23905571A>GCA402051375LAMA3c.1838A>G (p.Asn613Ser)
c.6665A>G (p.Asn2222Ser)
c.3557A>G (p.Asn1186Ser)
c.6497A>G (p.Asn2166Ser)
c.1443A>G
c.1670A>G (p.Asn557Ser)
n.1243A>G
c.6692A>G (p.Asn2231Ser)
c.6683A>G (p.Asn2228Ser)
c.6674A>G (p.Asn2225Ser)
c.6560A>G (p.Asn2187Ser)
c.4544A>G (p.Asn1515Ser)
c.2234A>G (p.Asn745Ser)
n.6933A>G
 dbSNP
18g.23905571A>TCA402051376LAMA3c.1838A>T (p.Asn613Ile)
c.6665A>T (p.Asn2222Ile)
c.3557A>T (p.Asn1186Ile)
c.6497A>T (p.Asn2166Ile)
c.1443A>T
c.1670A>T (p.Asn557Ile)
n.1243A>T
c.6692A>T (p.Asn2231Ile)
c.6683A>T (p.Asn2228Ile)
c.6674A>T (p.Asn2225Ile)
c.6560A>T (p.Asn2187Ile)
c.4544A>T (p.Asn1515Ile)
c.2234A>T (p.Asn745Ile)
n.6933A>T
18g.23905572C>ACA402051378LAMA3c.1839C>A (p.Asn613Lys)
c.6666C>A (p.Asn2222Lys)
c.3558C>A (p.Asn1186Lys)
c.6498C>A (p.Asn2166Lys)
c.1444C>A
c.1671C>A (p.Asn557Lys)
n.1244C>A
c.6693C>A (p.Asn2231Lys)
c.6684C>A (p.Asn2228Lys)
c.6675C>A (p.Asn2225Lys)
c.6561C>A (p.Asn2187Lys)
c.4545C>A (p.Asn1515Lys)
c.2235C>A (p.Asn745Lys)
n.6934C>A
18g.23905572C=CA2290325054LAMA3c.1839C= (p.Asn613=)
c.6666C= (p.Asn2222=)
c.3558C= (p.Asn1186=)
c.6498C= (p.Asn2166=)
c.1444C=
c.1671C= (p.Asn557=)
n.1244C=
c.6693C= (p.Asn2231=)
c.6684C= (p.Asn2228=)
c.6675C= (p.Asn2225=)
c.6561C= (p.Asn2187=)
c.4545C= (p.Asn1515=)
c.2235C= (p.Asn745=)
n.6934C=
18g.23905572C>GCA402051377LAMA3c.1839C>G (p.Asn613Lys)
c.6666C>G (p.Asn2222Lys)
c.3558C>G (p.Asn1186Lys)
c.6498C>G (p.Asn2166Lys)
c.1444C>G
c.1671C>G (p.Asn557Lys)
n.1244C>G
c.6693C>G (p.Asn2231Lys)
c.6684C>G (p.Asn2228Lys)
c.6675C>G (p.Asn2225Lys)
c.6561C>G (p.Asn2187Lys)
c.4545C>G (p.Asn1515Lys)
c.2235C>G (p.Asn745Lys)
n.6934C>G
 dbSNP gnomAD v4
18g.23905572C>TCA503336606LAMA3c.1839C>T (p.Asn613=)
c.6666C>T (p.Asn2222=)
c.3558C>T (p.Asn1186=)
c.6498C>T (p.Asn2166=)
c.1444C>T
c.1671C>T (p.Asn557=)
n.1244C>T
c.6693C>T (p.Asn2231=)
c.6684C>T (p.Asn2228=)
c.6675C>T (p.Asn2225=)
c.6561C>T (p.Asn2187=)
c.4545C>T (p.Asn1515=)
c.2235C>T (p.Asn745=)
n.6934C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23905573A>CCA402051379LAMA3c.1840A>C (p.Ser614Arg)
c.6667A>C (p.Ser2223Arg)
c.3559A>C (p.Ser1187Arg)
c.6499A>C (p.Ser2167Arg)
c.1445A>C
c.1672A>C (p.Ser558Arg)
n.1245A>C
c.6694A>C (p.Ser2232Arg)
c.6685A>C (p.Ser2229Arg)
c.6676A>C (p.Ser2226Arg)
c.6562A>C (p.Ser2188Arg)
c.4546A>C (p.Ser1516Arg)
c.2236A>C (p.Ser746Arg)
n.6935A>C
18g.23905573A>GCA402051381LAMA3c.1840A>G (p.Ser614Gly)
c.6667A>G (p.Ser2223Gly)
c.3559A>G (p.Ser1187Gly)
c.6499A>G (p.Ser2167Gly)
c.1445A>G
c.1672A>G (p.Ser558Gly)
n.1245A>G
c.6694A>G (p.Ser2232Gly)
c.6685A>G (p.Ser2229Gly)
c.6676A>G (p.Ser2226Gly)
c.6562A>G (p.Ser2188Gly)
c.4546A>G (p.Ser1516Gly)
c.2236A>G (p.Ser746Gly)
n.6935A>G
18g.23905573A>TCA402051380LAMA3c.1840A>T (p.Ser614Cys)
c.6667A>T (p.Ser2223Cys)
c.3559A>T (p.Ser1187Cys)
c.6499A>T (p.Ser2167Cys)
c.1445A>T
c.1672A>T (p.Ser558Cys)
n.1245A>T
c.6694A>T (p.Ser2232Cys)
c.6685A>T (p.Ser2229Cys)
c.6676A>T (p.Ser2226Cys)
c.6562A>T (p.Ser2188Cys)
c.4546A>T (p.Ser1516Cys)
c.2236A>T (p.Ser746Cys)
n.6935A>T
18g.23905574G>ACA402051382LAMA3c.1841G>A (p.Ser614Asn)
c.6668G>A (p.Ser2223Asn)
c.3560G>A (p.Ser1187Asn)
c.6500G>A (p.Ser2167Asn)
c.1446G>A
c.1673G>A (p.Ser558Asn)
n.1246G>A
c.6695G>A (p.Ser2232Asn)
c.6686G>A (p.Ser2229Asn)
c.6677G>A (p.Ser2226Asn)
c.6563G>A (p.Ser2188Asn)
c.4547G>A (p.Ser1516Asn)
c.2237G>A (p.Ser746Asn)
n.6936G>A
 gnomAD v4
18g.23905574G>CCA297103301LAMA3c.1841G>C (p.Ser614Thr)
c.6668G>C (p.Ser2223Thr)
c.3560G>C (p.Ser1187Thr)
c.6500G>C (p.Ser2167Thr)
c.1446G>C
c.1673G>C (p.Ser558Thr)
n.1246G>C
c.6695G>C (p.Ser2232Thr)
c.6686G>C (p.Ser2229Thr)
c.6677G>C (p.Ser2226Thr)
c.6563G>C (p.Ser2188Thr)
c.4547G>C (p.Ser1516Thr)
c.2237G>C (p.Ser746Thr)
n.6936G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23905574G=CA2290325055LAMA3c.1841G= (p.Ser614=)
c.6668G= (p.Ser2223=)
c.3560G= (p.Ser1187=)
c.6500G= (p.Ser2167=)
c.1446G=
c.1673G= (p.Ser558=)
n.1246G=
c.6695G= (p.Ser2232=)
c.6686G= (p.Ser2229=)
c.6677G= (p.Ser2226=)
c.6563G= (p.Ser2188=)
c.4547G= (p.Ser1516=)
c.2237G= (p.Ser746=)
n.6936G=
18g.23905574G>TCA402051383LAMA3c.1841G>T (p.Ser614Ile)
c.6668G>T (p.Ser2223Ile)
c.3560G>T (p.Ser1187Ile)
c.6500G>T (p.Ser2167Ile)
c.1446G>T
c.1673G>T (p.Ser558Ile)
n.1246G>T
c.6695G>T (p.Ser2232Ile)
c.6686G>T (p.Ser2229Ile)
c.6677G>T (p.Ser2226Ile)
c.6563G>T (p.Ser2188Ile)
c.4547G>T (p.Ser1516Ile)
c.2237G>T (p.Ser746Ile)
n.6936G>T
18g.23905575T>ACA402051384LAMA3c.1842T>A (p.Ser614Arg)
c.6669T>A (p.Ser2223Arg)
c.3561T>A (p.Ser1187Arg)
c.6501T>A (p.Ser2167Arg)
c.1447T>A
c.1674T>A (p.Ser558Arg)
n.1247T>A
c.6696T>A (p.Ser2232Arg)
c.6687T>A (p.Ser2229Arg)
c.6678T>A (p.Ser2226Arg)
c.6564T>A (p.Ser2188Arg)
c.4548T>A (p.Ser1516Arg)
c.2238T>A (p.Ser746Arg)
n.6937T>A
18g.23905575T>CCA503336608LAMA3c.1842T>C (p.Ser614=)
c.6669T>C (p.Ser2223=)
c.3561T>C (p.Ser1187=)
c.6501T>C (p.Ser2167=)
c.1447T>C
c.1674T>C (p.Ser558=)
n.1247T>C
c.6696T>C (p.Ser2232=)
c.6687T>C (p.Ser2229=)
c.6678T>C (p.Ser2226=)
c.6564T>C (p.Ser2188=)
c.4548T>C (p.Ser1516=)
c.2238T>C (p.Ser746=)
n.6937T>C
 dbSNP gnomAD v3 gnomAD v4
18g.23905575T>GCA402051385LAMA3c.1842T>G (p.Ser614Arg)
c.6669T>G (p.Ser2223Arg)
c.3561T>G (p.Ser1187Arg)
c.6501T>G (p.Ser2167Arg)
c.1447T>G
c.1674T>G (p.Ser558Arg)
n.1247T>G
c.6696T>G (p.Ser2232Arg)
c.6687T>G (p.Ser2229Arg)
c.6678T>G (p.Ser2226Arg)
c.6564T>G (p.Ser2188Arg)
c.4548T>G (p.Ser1516Arg)
c.2238T>G (p.Ser746Arg)
n.6937T>G
18g.23905575T=CA2290325056LAMA3c.1842T= (p.Ser614=)
c.6669T= (p.Ser2223=)
c.3561T= (p.Ser1187=)
c.6501T= (p.Ser2167=)
c.1447T=
c.1674T= (p.Ser558=)
n.1247T=
c.6696T= (p.Ser2232=)
c.6687T= (p.Ser2229=)
c.6678T= (p.Ser2226=)
c.6564T= (p.Ser2188=)
c.4548T= (p.Ser1516=)
c.2238T= (p.Ser746=)
n.6937T=
18g.23905575_23905576insTTATCACTGTTGCA2641294813LAMA3c.1842_1843insTTATCACTGTTG (p.Ser614_Asp615insLeuSerLeuLeu)
c.6669_6670insTTATCACTGTTG (p.Ser2223_Asp2224insLeuSerLeuLeu)
c.3561_3562insTTATCACTGTTG (p.Ser1187_Asp1188insLeuSerLeuLeu)
c.6501_6502insTTATCACTGTTG (p.Ser2167_Asp2168insLeuSerLeuLeu)
c.1447_1448insTTATCACTGTTG
c.1674_1675insTTATCACTGTTG (p.Ser558_Asp559insLeuSerLeuLeu)
n.1247_1248insTTATCACTGTTG
c.6696_6697insTTATCACTGTTG (p.Ser2232_Asp2233insLeuSerLeuLeu)
c.6687_6688insTTATCACTGTTG (p.Ser2229_Asp2230insLeuSerLeuLeu)
c.6678_6679insTTATCACTGTTG (p.Ser2226_Asp2227insLeuSerLeuLeu)
c.6564_6565insTTATCACTGTTG (p.Ser2188_Asp2189insLeuSerLeuLeu)
c.4548_4549insTTATCACTGTTG (p.Ser1516_Asp1517insLeuSerLeuLeu)
c.2238_2239insTTATCACTGTTG (p.Ser746_Asp747insLeuSerLeuLeu)
n.6937_6938insTTATCACTGTTG
 gnomAD v4
18g.23905576G>ACA402051386LAMA3c.1843G>A (p.Asp615Asn)
c.6670G>A (p.Asp2224Asn)
c.3562G>A (p.Asp1188Asn)
c.6502G>A (p.Asp2168Asn)
c.1448G>A
c.1675G>A (p.Asp559Asn)
n.1248G>A
c.6697G>A (p.Asp2233Asn)
c.6688G>A (p.Asp2230Asn)
c.6679G>A (p.Asp2227Asn)
c.6565G>A (p.Asp2189Asn)
c.4549G>A (p.Asp1517Asn)
c.2239G>A (p.Asp747Asn)
n.6938G>A
 gnomAD v4
18g.23905576G>CCA402051387LAMA3c.1843G>C (p.Asp615His)
c.6670G>C (p.Asp2224His)
c.3562G>C (p.Asp1188His)
c.6502G>C (p.Asp2168His)
c.1448G>C
c.1675G>C (p.Asp559His)
n.1248G>C
c.6697G>C (p.Asp2233His)
c.6688G>C (p.Asp2230His)
c.6679G>C (p.Asp2227His)
c.6565G>C (p.Asp2189His)
c.4549G>C (p.Asp1517His)
c.2239G>C (p.Asp747His)
n.6938G>C
18g.23905576G>TCA402051388LAMA3c.1843G>T (p.Asp615Tyr)
c.6670G>T (p.Asp2224Tyr)
c.3562G>T (p.Asp1188Tyr)
c.6502G>T (p.Asp2168Tyr)
c.1448G>T
c.1675G>T (p.Asp559Tyr)
n.1248G>T
c.6697G>T (p.Asp2233Tyr)
c.6688G>T (p.Asp2230Tyr)
c.6679G>T (p.Asp2227Tyr)
c.6565G>T (p.Asp2189Tyr)
c.4549G>T (p.Asp1517Tyr)
c.2239G>T (p.Asp747Tyr)
n.6938G>T
18g.23905577A>CCA402051389LAMA3c.1844A>C (p.Asp615Ala)
c.6671A>C (p.Asp2224Ala)
c.3563A>C (p.Asp1188Ala)
c.6503A>C (p.Asp2168Ala)
c.1449A>C
c.1676A>C (p.Asp559Ala)
n.1249A>C
c.6698A>C (p.Asp2233Ala)
c.6689A>C (p.Asp2230Ala)
c.6680A>C (p.Asp2227Ala)
c.6566A>C (p.Asp2189Ala)
c.4550A>C (p.Asp1517Ala)
c.2240A>C (p.Asp747Ala)
n.6939A>C
18g.23905577A>GCA402051390LAMA3c.1844A>G (p.Asp615Gly)
c.6671A>G (p.Asp2224Gly)
c.3563A>G (p.Asp1188Gly)
c.6503A>G (p.Asp2168Gly)
c.1449A>G
c.1676A>G (p.Asp559Gly)
n.1249A>G
c.6698A>G (p.Asp2233Gly)
c.6689A>G (p.Asp2230Gly)
c.6680A>G (p.Asp2227Gly)
c.6566A>G (p.Asp2189Gly)
c.4550A>G (p.Asp1517Gly)
c.2240A>G (p.Asp747Gly)
n.6939A>G
 gnomAD v4
18g.23905577A>TCA402051391LAMA3c.1844A>T (p.Asp615Val)
c.6671A>T (p.Asp2224Val)
c.3563A>T (p.Asp1188Val)
c.6503A>T (p.Asp2168Val)
c.1449A>T
c.1676A>T (p.Asp559Val)
n.1249A>T
c.6698A>T (p.Asp2233Val)
c.6689A>T (p.Asp2230Val)
c.6680A>T (p.Asp2227Val)
c.6566A>T (p.Asp2189Val)
c.4550A>T (p.Asp1517Val)
c.2240A>T (p.Asp747Val)
n.6939A>T
 gnomAD v4
18g.23905578T>ACA402051392LAMA3c.1845T>A (p.Asp615Glu)
c.6672T>A (p.Asp2224Glu)
c.3564T>A (p.Asp1188Glu)
c.6504T>A (p.Asp2168Glu)
c.1450T>A
c.1677T>A (p.Asp559Glu)
n.1250T>A
c.6699T>A (p.Asp2233Glu)
c.6690T>A (p.Asp2230Glu)
c.6681T>A (p.Asp2227Glu)
c.6567T>A (p.Asp2189Glu)
c.4551T>A (p.Asp1517Glu)
c.2241T>A (p.Asp747Glu)
n.6940T>A
 gnomAD v4
18g.23905578T>CCA503336611LAMA3c.1845T>C (p.Asp615=)
c.6672T>C (p.Asp2224=)
c.3564T>C (p.Asp1188=)
c.6504T>C (p.Asp2168=)
c.1450T>C
c.1677T>C (p.Asp559=)
n.1250T>C
c.6699T>C (p.Asp2233=)
c.6690T>C (p.Asp2230=)
c.6681T>C (p.Asp2227=)
c.6567T>C (p.Asp2189=)
c.4551T>C (p.Asp1517=)
c.2241T>C (p.Asp747=)
n.6940T>C
18g.23905578T>GCA402051393LAMA3c.1845T>G (p.Asp615Glu)
c.6672T>G (p.Asp2224Glu)
c.3564T>G (p.Asp1188Glu)
c.6504T>G (p.Asp2168Glu)
c.1450T>G
c.1677T>G (p.Asp559Glu)
n.1250T>G
c.6699T>G (p.Asp2233Glu)
c.6690T>G (p.Asp2230Glu)
c.6681T>G (p.Asp2227Glu)
c.6567T>G (p.Asp2189Glu)
c.4551T>G (p.Asp1517Glu)
c.2241T>G (p.Asp747Glu)
n.6940T>G
18g.23905579A>CCA402051394LAMA3c.1846A>C (p.Lys616Gln)
c.6673A>C (p.Lys2225Gln)
c.3565A>C (p.Lys1189Gln)
c.6505A>C (p.Lys2169Gln)
c.1451A>C
c.1678A>C (p.Lys560Gln)
n.1251A>C
c.6700A>C (p.Lys2234Gln)
c.6691A>C (p.Lys2231Gln)
c.6682A>C (p.Lys2228Gln)
c.6568A>C (p.Lys2190Gln)
c.4552A>C (p.Lys1518Gln)
c.2242A>C (p.Lys748Gln)
n.6941A>C
18g.23905579A>GCA402051396LAMA3c.1846A>G (p.Lys616Glu)
c.6673A>G (p.Lys2225Glu)
c.3565A>G (p.Lys1189Glu)
c.6505A>G (p.Lys2169Glu)
c.1451A>G
c.1678A>G (p.Lys560Glu)
n.1251A>G
c.6700A>G (p.Lys2234Glu)
c.6691A>G (p.Lys2231Glu)
c.6682A>G (p.Lys2228Glu)
c.6568A>G (p.Lys2190Glu)
c.4552A>G (p.Lys1518Glu)
c.2242A>G (p.Lys748Glu)
n.6941A>G
18g.23905579A>TCA402051395LAMA3c.1846A>T (p.Lys616Ter)
c.6673A>T (p.Lys2225Ter)
c.3565A>T (p.Lys1189Ter)
c.6505A>T (p.Lys2169Ter)
c.1451A>T
c.1678A>T (p.Lys560Ter)
n.1251A>T
c.6700A>T (p.Lys2234Ter)
c.6691A>T (p.Lys2231Ter)
c.6682A>T (p.Lys2228Ter)
c.6568A>T (p.Lys2190Ter)
c.4552A>T (p.Lys1518Ter)
c.2242A>T (p.Lys748Ter)
n.6941A>T
 gnomAD v4
18g.23905580A>CCA402051397LAMA3c.1847A>C (p.Lys616Thr)
c.6674A>C (p.Lys2225Thr)
c.3566A>C (p.Lys1189Thr)
c.6506A>C (p.Lys2169Thr)
c.1452A>C
c.1679A>C (p.Lys560Thr)
n.1252A>C
c.6701A>C (p.Lys2234Thr)
c.6692A>C (p.Lys2231Thr)
c.6683A>C (p.Lys2228Thr)
c.6569A>C (p.Lys2190Thr)
c.4553A>C (p.Lys1518Thr)
c.2243A>C (p.Lys748Thr)
n.6942A>C
18g.23905580A>GCA402051398LAMA3c.1847A>G (p.Lys616Arg)
c.6674A>G (p.Lys2225Arg)
c.3566A>G (p.Lys1189Arg)
c.6506A>G (p.Lys2169Arg)
c.1452A>G
c.1679A>G (p.Lys560Arg)
n.1252A>G
c.6701A>G (p.Lys2234Arg)
c.6692A>G (p.Lys2231Arg)
c.6683A>G (p.Lys2228Arg)
c.6569A>G (p.Lys2190Arg)
c.4553A>G (p.Lys1518Arg)
c.2243A>G (p.Lys748Arg)
n.6942A>G
18g.23905580A>TCA402051399LAMA3c.1847A>T (p.Lys616Ile)
c.6674A>T (p.Lys2225Ile)
c.3566A>T (p.Lys1189Ile)
c.6506A>T (p.Lys2169Ile)
c.1452A>T
c.1679A>T (p.Lys560Ile)
n.1252A>T
c.6701A>T (p.Lys2234Ile)
c.6692A>T (p.Lys2231Ile)
c.6683A>T (p.Lys2228Ile)
c.6569A>T (p.Lys2190Ile)
c.4553A>T (p.Lys1518Ile)
c.2243A>T (p.Lys748Ile)
n.6942A>T
18g.23905581A=CA2290325057LAMA3c.1848A= (p.Lys616=)
c.6675A= (p.Lys2225=)
c.3567A= (p.Lys1189=)
c.6507A= (p.Lys2169=)
c.1453A=
c.1680A= (p.Lys560=)
n.1253A=
c.6702A= (p.Lys2234=)
c.6693A= (p.Lys2231=)
c.6684A= (p.Lys2228=)
c.6570A= (p.Lys2190=)
c.4554A= (p.Lys1518=)
c.2244A= (p.Lys748=)
n.6943A=
18g.23905581A>CCA402051400LAMA3c.1848A>C (p.Lys616Asn)
c.6675A>C (p.Lys2225Asn)
c.3567A>C (p.Lys1189Asn)
c.6507A>C (p.Lys2169Asn)
c.1453A>C
c.1680A>C (p.Lys560Asn)
n.1253A>C
c.6702A>C (p.Lys2234Asn)
c.6693A>C (p.Lys2231Asn)
c.6684A>C (p.Lys2228Asn)
c.6570A>C (p.Lys2190Asn)
c.4554A>C (p.Lys1518Asn)
c.2244A>C (p.Lys748Asn)
n.6943A>C
18g.23905581A>GCA8916455LAMA3c.1848A>G (p.Lys616=)
c.6675A>G (p.Lys2225=)
c.3567A>G (p.Lys1189=)
c.6507A>G (p.Lys2169=)
c.1453A>G
c.1680A>G (p.Lys560=)
n.1253A>G
c.6702A>G (p.Lys2234=)
c.6693A>G (p.Lys2231=)
c.6684A>G (p.Lys2228=)
c.6570A>G (p.Lys2190=)
c.4554A>G (p.Lys1518=)
c.2244A>G (p.Lys748=)
n.6943A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23905581A>TCA402051401LAMA3c.1848A>T (p.Lys616Asn)
c.6675A>T (p.Lys2225Asn)
c.3567A>T (p.Lys1189Asn)
c.6507A>T (p.Lys2169Asn)
c.1453A>T
c.1680A>T (p.Lys560Asn)
n.1253A>T
c.6702A>T (p.Lys2234Asn)
c.6693A>T (p.Lys2231Asn)
c.6684A>T (p.Lys2228Asn)
c.6570A>T (p.Lys2190Asn)
c.4554A>T (p.Lys1518Asn)
c.2244A>T (p.Lys748Asn)
n.6943A>T
18g.23905582C>ACA402051402LAMA3c.1849C>A (p.Leu617Met)
c.6676C>A (p.Leu2226Met)
c.3568C>A (p.Leu1190Met)
c.6508C>A (p.Leu2170Met)
c.1454C>A
c.1681C>A (p.Leu561Met)
n.1254C>A
c.6703C>A (p.Leu2235Met)
c.6694C>A (p.Leu2232Met)
c.6685C>A (p.Leu2229Met)
c.6571C>A (p.Leu2191Met)
c.4555C>A (p.Leu1519Met)
c.2245C>A (p.Leu749Met)
n.6944C>A
18g.23905582C>GCA402051403LAMA3c.1849C>G (p.Leu617Val)
c.6676C>G (p.Leu2226Val)
c.3568C>G (p.Leu1190Val)
c.6508C>G (p.Leu2170Val)
c.1454C>G
c.1681C>G (p.Leu561Val)
n.1254C>G
c.6703C>G (p.Leu2235Val)
c.6694C>G (p.Leu2232Val)
c.6685C>G (p.Leu2229Val)
c.6571C>G (p.Leu2191Val)
c.4555C>G (p.Leu1519Val)
c.2245C>G (p.Leu749Val)
n.6944C>G
 gnomAD v4
18g.23905582C>TCA503336613LAMA3c.1849C>T (p.Leu617=)
c.6676C>T (p.Leu2226=)
c.3568C>T (p.Leu1190=)
c.6508C>T (p.Leu2170=)
c.1454C>T
c.1681C>T (p.Leu561=)
n.1254C>T
c.6703C>T (p.Leu2235=)
c.6694C>T (p.Leu2232=)
c.6685C>T (p.Leu2229=)
c.6571C>T (p.Leu2191=)
c.4555C>T (p.Leu1519=)
c.2245C>T (p.Leu749=)
n.6944C>T
 dbSNP
18g.23905583T>ACA402051404LAMA3c.1850T>A (p.Leu617Gln)
c.6677T>A (p.Leu2226Gln)
c.3569T>A (p.Leu1190Gln)
c.6509T>A (p.Leu2170Gln)
c.1455T>A
c.1682T>A (p.Leu561Gln)
n.1255T>A
c.6704T>A (p.Leu2235Gln)
c.6695T>A (p.Leu2232Gln)
c.6686T>A (p.Leu2229Gln)
c.6572T>A (p.Leu2191Gln)
c.4556T>A (p.Leu1519Gln)
c.2246T>A (p.Leu749Gln)
n.6945T>A
18g.23905583T>CCA402051405LAMA3c.1850T>C (p.Leu617Pro)
c.6677T>C (p.Leu2226Pro)
c.3569T>C (p.Leu1190Pro)
c.6509T>C (p.Leu2170Pro)
c.1455T>C
c.1682T>C (p.Leu561Pro)
n.1255T>C
c.6704T>C (p.Leu2235Pro)
c.6695T>C (p.Leu2232Pro)
c.6686T>C (p.Leu2229Pro)
c.6572T>C (p.Leu2191Pro)
c.4556T>C (p.Leu1519Pro)
c.2246T>C (p.Leu749Pro)
n.6945T>C
 dbSNP gnomAD v4
18g.23905583T>GCA402051406LAMA3c.1850T>G (p.Leu617Arg)
c.6677T>G (p.Leu2226Arg)
c.3569T>G (p.Leu1190Arg)
c.6509T>G (p.Leu2170Arg)
c.1455T>G
c.1682T>G (p.Leu561Arg)
n.1255T>G
c.6704T>G (p.Leu2235Arg)
c.6695T>G (p.Leu2232Arg)
c.6686T>G (p.Leu2229Arg)
c.6572T>G (p.Leu2191Arg)
c.4556T>G (p.Leu1519Arg)
c.2246T>G (p.Leu749Arg)
n.6945T>G
18g.23905583T=CA2290325058LAMA3c.1850T= (p.Leu617=)
c.6677T= (p.Leu2226=)
c.3569T= (p.Leu1190=)
c.6509T= (p.Leu2170=)
c.1455T=
c.1682T= (p.Leu561=)
n.1255T=
c.6704T= (p.Leu2235=)
c.6695T= (p.Leu2232=)
c.6686T= (p.Leu2229=)
c.6572T= (p.Leu2191=)
c.4556T= (p.Leu1519=)
c.2246T= (p.Leu749=)
n.6945T=
18g.23905584G>ACA503336616LAMA3c.1851G>A (p.Leu617=)
c.6678G>A (p.Leu2226=)
c.3570G>A (p.Leu1190=)
c.6510G>A (p.Leu2170=)
c.1456G>A
c.1683G>A (p.Leu561=)
n.1256G>A
c.6705G>A (p.Leu2235=)
c.6696G>A (p.Leu2232=)
c.6687G>A (p.Leu2229=)
c.6573G>A (p.Leu2191=)
c.4557G>A (p.Leu1519=)
c.2247G>A (p.Leu749=)
n.6946G>A
 ClinVar dbSNP gnomAD v4
18g.23905584G>CCA503336617LAMA3c.1851G>C (p.Leu617=)
c.6678G>C (p.Leu2226=)
c.3570G>C (p.Leu1190=)
c.6510G>C (p.Leu2170=)
c.1456G>C
c.1683G>C (p.Leu561=)
n.1256G>C
c.6705G>C (p.Leu2235=)
c.6696G>C (p.Leu2232=)
c.6687G>C (p.Leu2229=)
c.6573G>C (p.Leu2191=)
c.4557G>C (p.Leu1519=)
c.2247G>C (p.Leu749=)
n.6946G>C
18g.23905584G>TCA503336618LAMA3c.1851G>T (p.Leu617=)
c.6678G>T (p.Leu2226=)
c.3570G>T (p.Leu1190=)
c.6510G>T (p.Leu2170=)
c.1456G>T
c.1683G>T (p.Leu561=)
n.1256G>T
c.6705G>T (p.Leu2235=)
c.6696G>T (p.Leu2232=)
c.6687G>T (p.Leu2229=)
c.6573G>T (p.Leu2191=)
c.4557G>T (p.Leu1519=)
c.2247G>T (p.Leu749=)
n.6946G>T
18g.23905585T>ACA402051407LAMA3c.1852T>A (p.Leu618Ile)
c.6679T>A (p.Leu2227Ile)
c.3571T>A (p.Leu1191Ile)
c.6511T>A (p.Leu2171Ile)
c.1457T>A
c.1684T>A (p.Leu562Ile)
n.1257T>A
c.6706T>A (p.Leu2236Ile)
c.6697T>A (p.Leu2233Ile)
c.6688T>A (p.Leu2230Ile)
c.6574T>A (p.Leu2192Ile)
c.4558T>A (p.Leu1520Ile)
c.2248T>A (p.Leu750Ile)
n.6947T>A
18g.23905585T>CCA503336619LAMA3c.1852T>C (p.Leu618=)
c.6679T>C (p.Leu2227=)
c.3571T>C (p.Leu1191=)
c.6511T>C (p.Leu2171=)
c.1457T>C
c.1684T>C (p.Leu562=)
n.1257T>C
c.6706T>C (p.Leu2236=)
c.6697T>C (p.Leu2233=)
c.6688T>C (p.Leu2230=)
c.6574T>C (p.Leu2192=)
c.4558T>C (p.Leu1520=)
c.2248T>C (p.Leu750=)
n.6947T>C
18g.23905585T>GCA402051408LAMA3c.1852T>G (p.Leu618Val)
c.6679T>G (p.Leu2227Val)
c.3571T>G (p.Leu1191Val)
c.6511T>G (p.Leu2171Val)
c.1457T>G
c.1684T>G (p.Leu562Val)
n.1257T>G
c.6706T>G (p.Leu2236Val)
c.6697T>G (p.Leu2233Val)
c.6688T>G (p.Leu2230Val)
c.6574T>G (p.Leu2192Val)
c.4558T>G (p.Leu1520Val)
c.2248T>G (p.Leu750Val)
n.6947T>G
18g.23905586T>ACA402051409LAMA3c.1853T>A (p.Leu618Ter)
c.6680T>A (p.Leu2227Ter)
c.3572T>A (p.Leu1191Ter)
c.6512T>A (p.Leu2171Ter)
c.1458T>A
c.1685T>A (p.Leu562Ter)
n.1258T>A
c.6707T>A (p.Leu2236Ter)
c.6698T>A (p.Leu2233Ter)
c.6689T>A (p.Leu2230Ter)
c.6575T>A (p.Leu2192Ter)
c.4559T>A (p.Leu1520Ter)
c.2249T>A (p.Leu750Ter)
n.6948T>A
 gnomAD v4
18g.23905586T>CCA402051410LAMA3c.1853T>C (p.Leu618Ser)
c.6680T>C (p.Leu2227Ser)
c.3572T>C (p.Leu1191Ser)
c.6512T>C (p.Leu2171Ser)
c.1458T>C
c.1685T>C (p.Leu562Ser)
n.1258T>C
c.6707T>C (p.Leu2236Ser)
c.6698T>C (p.Leu2233Ser)
c.6689T>C (p.Leu2230Ser)
c.6575T>C (p.Leu2192Ser)
c.4559T>C (p.Leu1520Ser)
c.2249T>C (p.Leu750Ser)
n.6948T>C
 dbSNP gnomAD v2 gnomAD v4
18g.23905586T>GCA402051411LAMA3c.1853T>G (p.Leu618Ter)
c.6680T>G (p.Leu2227Ter)
c.3572T>G (p.Leu1191Ter)
c.6512T>G (p.Leu2171Ter)
c.1458T>G
c.1685T>G (p.Leu562Ter)
n.1258T>G
c.6707T>G (p.Leu2236Ter)
c.6698T>G (p.Leu2233Ter)
c.6689T>G (p.Leu2230Ter)
c.6575T>G (p.Leu2192Ter)
c.4559T>G (p.Leu1520Ter)
c.2249T>G (p.Leu750Ter)
n.6948T>G
18g.23905586T=CA2290325059LAMA3c.1853T= (p.Leu618=)
c.6680T= (p.Leu2227=)
c.3572T= (p.Leu1191=)
c.6512T= (p.Leu2171=)
c.1458T=
c.1685T= (p.Leu562=)
n.1258T=
c.6707T= (p.Leu2236=)
c.6698T= (p.Leu2233=)
c.6689T= (p.Leu2230=)
c.6575T= (p.Leu2192=)
c.4559T= (p.Leu1520=)
c.2249T= (p.Leu750=)
n.6948T=
18g.23905587A>CCA402051412LAMA3c.1854A>C (p.Leu618Phe)
c.6681A>C (p.Leu2227Phe)
c.3573A>C (p.Leu1191Phe)
c.6513A>C (p.Leu2171Phe)
c.1459A>C
c.1686A>C (p.Leu562Phe)
n.1259A>C
c.6708A>C (p.Leu2236Phe)
c.6699A>C (p.Leu2233Phe)
c.6690A>C (p.Leu2230Phe)
c.6576A>C (p.Leu2192Phe)
c.4560A>C (p.Leu1520Phe)
c.2250A>C (p.Leu750Phe)
n.6949A>C
18g.23905587A>GCA503336620LAMA3c.1854A>G (p.Leu618=)
c.6681A>G (p.Leu2227=)
c.3573A>G (p.Leu1191=)
c.6513A>G (p.Leu2171=)
c.1459A>G
c.1686A>G (p.Leu562=)
n.1259A>G
c.6708A>G (p.Leu2236=)
c.6699A>G (p.Leu2233=)
c.6690A>G (p.Leu2230=)
c.6576A>G (p.Leu2192=)
c.4560A>G (p.Leu1520=)
c.2250A>G (p.Leu750=)
n.6949A>G
18g.23905587A>TCA402051413LAMA3c.1854A>T (p.Leu618Phe)
c.6681A>T (p.Leu2227Phe)
c.3573A>T (p.Leu1191Phe)
c.6513A>T (p.Leu2171Phe)
c.1459A>T
c.1686A>T (p.Leu562Phe)
n.1259A>T
c.6708A>T (p.Leu2236Phe)
c.6699A>T (p.Leu2233Phe)
c.6690A>T (p.Leu2230Phe)
c.6576A>T (p.Leu2192Phe)
c.4560A>T (p.Leu1520Phe)
c.2250A>T (p.Leu750Phe)
n.6949A>T
18g.23905588A>CCA402051414LAMA3c.1855A>C (p.Asn619His)
c.6682A>C (p.Asn2228His)
c.3574A>C (p.Asn1192His)
c.6514A>C (p.Asn2172His)
c.1460A>C
c.1687A>C (p.Asn563His)
n.1260A>C
c.6709A>C (p.Asn2237His)
c.6700A>C (p.Asn2234His)
c.6691A>C (p.Asn2231His)
c.6577A>C (p.Asn2193His)
c.4561A>C (p.Asn1521His)
c.2251A>C (p.Asn751His)
n.6950A>C
 gnomAD v4
18g.23905588A>GCA402051415LAMA3c.1855A>G (p.Asn619Asp)
c.6682A>G (p.Asn2228Asp)
c.3574A>G (p.Asn1192Asp)
c.6514A>G (p.Asn2172Asp)
c.1460A>G
c.1687A>G (p.Asn563Asp)
n.1260A>G
c.6709A>G (p.Asn2237Asp)
c.6700A>G (p.Asn2234Asp)
c.6691A>G (p.Asn2231Asp)
c.6577A>G (p.Asn2193Asp)
c.4561A>G (p.Asn1521Asp)
c.2251A>G (p.Asn751Asp)
n.6950A>G
18g.23905588A>TCA402051416LAMA3c.1855A>T (p.Asn619Tyr)
c.6682A>T (p.Asn2228Tyr)
c.3574A>T (p.Asn1192Tyr)
c.6514A>T (p.Asn2172Tyr)
c.1460A>T
c.1687A>T (p.Asn563Tyr)
n.1260A>T
c.6709A>T (p.Asn2237Tyr)
c.6700A>T (p.Asn2234Tyr)
c.6691A>T (p.Asn2231Tyr)
c.6577A>T (p.Asn2193Tyr)
c.4561A>T (p.Asn1521Tyr)
c.2251A>T (p.Asn751Tyr)
n.6950A>T
18g.23905589A=CA2290325060LAMA3c.1856A= (p.Asn619=)
c.6683A= (p.Asn2228=)
c.3575A= (p.Asn1192=)
c.6515A= (p.Asn2172=)
c.1461A=
c.1688A= (p.Asn563=)
n.1261A=
c.6710A= (p.Asn2237=)
c.6701A= (p.Asn2234=)
c.6692A= (p.Asn2231=)
c.6578A= (p.Asn2193=)
c.4562A= (p.Asn1521=)
c.2252A= (p.Asn751=)
n.6951A=
18g.23905589A>CCA402051417LAMA3c.1856A>C (p.Asn619Thr)
c.6683A>C (p.Asn2228Thr)
c.3575A>C (p.Asn1192Thr)
c.6515A>C (p.Asn2172Thr)
c.1461A>C
c.1688A>C (p.Asn563Thr)
n.1261A>C
c.6710A>C (p.Asn2237Thr)
c.6701A>C (p.Asn2234Thr)
c.6692A>C (p.Asn2231Thr)
c.6578A>C (p.Asn2193Thr)
c.4562A>C (p.Asn1521Thr)
c.2252A>C (p.Asn751Thr)
n.6951A>C
18g.23905589A>GCA402051418LAMA3c.1856A>G (p.Asn619Ser)
c.6683A>G (p.Asn2228Ser)
c.3575A>G (p.Asn1192Ser)
c.6515A>G (p.Asn2172Ser)
c.1461A>G
c.1688A>G (p.Asn563Ser)
n.1261A>G
c.6710A>G (p.Asn2237Ser)
c.6701A>G (p.Asn2234Ser)
c.6692A>G (p.Asn2231Ser)
c.6578A>G (p.Asn2193Ser)
c.4562A>G (p.Asn1521Ser)
c.2252A>G (p.Asn751Ser)
n.6951A>G
 dbSNP gnomAD v2 gnomAD v4
18g.23905589A>TCA402051419LAMA3c.1856A>T (p.Asn619Ile)
c.6683A>T (p.Asn2228Ile)
c.3575A>T (p.Asn1192Ile)
c.6515A>T (p.Asn2172Ile)
c.1461A>T
c.1688A>T (p.Asn563Ile)
n.1261A>T
c.6710A>T (p.Asn2237Ile)
c.6701A>T (p.Asn2234Ile)
c.6692A>T (p.Asn2231Ile)
c.6578A>T (p.Asn2193Ile)
c.4562A>T (p.Asn1521Ile)
c.2252A>T (p.Asn751Ile)
n.6951A>T
18g.23905590T>ACA402051420LAMA3c.1857T>A (p.Asn619Lys)
c.6684T>A (p.Asn2228Lys)
c.3576T>A (p.Asn1192Lys)
c.6516T>A (p.Asn2172Lys)
c.1462T>A
c.1689T>A (p.Asn563Lys)
n.1262T>A
c.6711T>A (p.Asn2237Lys)
c.6702T>A (p.Asn2234Lys)
c.6693T>A (p.Asn2231Lys)
c.6579T>A (p.Asn2193Lys)
c.4563T>A (p.Asn1521Lys)
c.2253T>A (p.Asn751Lys)
n.6952T>A
18g.23905590T>CCA503336622LAMA3c.1857T>C (p.Asn619=)
c.6684T>C (p.Asn2228=)
c.3576T>C (p.Asn1192=)
c.6516T>C (p.Asn2172=)
c.1462T>C
c.1689T>C (p.Asn563=)
n.1262T>C
c.6711T>C (p.Asn2237=)
c.6702T>C (p.Asn2234=)
c.6693T>C (p.Asn2231=)
c.6579T>C (p.Asn2193=)
c.4563T>C (p.Asn1521=)
c.2253T>C (p.Asn751=)
n.6952T>C
18g.23905590T>GCA402051421LAMA3c.1857T>G (p.Asn619Lys)
c.6684T>G (p.Asn2228Lys)
c.3576T>G (p.Asn1192Lys)
c.6516T>G (p.Asn2172Lys)
c.1462T>G
c.1689T>G (p.Asn563Lys)
n.1262T>G
c.6711T>G (p.Asn2237Lys)
c.6702T>G (p.Asn2234Lys)
c.6693T>G (p.Asn2231Lys)
c.6579T>G (p.Asn2193Lys)
c.4563T>G (p.Asn1521Lys)
c.2253T>G (p.Asn751Lys)
n.6952T>G
18g.23905591G>ACA402051424LAMA3c.1858G>A (p.Glu620Lys)
c.6685G>A (p.Glu2229Lys)
c.3577G>A (p.Glu1193Lys)
c.6517G>A (p.Glu2173Lys)
c.1463G>A
c.1690G>A (p.Glu564Lys)
n.1263G>A
c.6712G>A (p.Glu2238Lys)
c.6703G>A (p.Glu2235Lys)
c.6694G>A (p.Glu2232Lys)
c.6580G>A (p.Glu2194Lys)
c.4564G>A (p.Glu1522Lys)
c.2254G>A (p.Glu752Lys)
n.6953G>A
 dbSNP gnomAD v2 gnomAD v4
18g.23905591G>CCA402051422LAMA3c.1858G>C (p.Glu620Gln)
c.6685G>C (p.Glu2229Gln)
c.3577G>C (p.Glu1193Gln)
c.6517G>C (p.Glu2173Gln)
c.1463G>C
c.1690G>C (p.Glu564Gln)
n.1263G>C
c.6712G>C (p.Glu2238Gln)
c.6703G>C (p.Glu2235Gln)
c.6694G>C (p.Glu2232Gln)
c.6580G>C (p.Glu2194Gln)
c.4564G>C (p.Glu1522Gln)
c.2254G>C (p.Glu752Gln)
n.6953G>C
18g.23905591G=CA2290325061LAMA3c.1858G= (p.Glu620=)
c.6685G= (p.Glu2229=)
c.3577G= (p.Glu1193=)
c.6517G= (p.Glu2173=)
c.1463G=
c.1690G= (p.Glu564=)
n.1263G=
c.6712G= (p.Glu2238=)
c.6703G= (p.Glu2235=)
c.6694G= (p.Glu2232=)
c.6580G= (p.Glu2194=)
c.4564G= (p.Glu1522=)
c.2254G= (p.Glu752=)
n.6953G=
18g.23905591G>TCA402051423LAMA3c.1858G>T (p.Glu620Ter)
c.6685G>T (p.Glu2229Ter)
c.3577G>T (p.Glu1193Ter)
c.6517G>T (p.Glu2173Ter)
c.1463G>T
c.1690G>T (p.Glu564Ter)
n.1263G>T
c.6712G>T (p.Glu2238Ter)
c.6703G>T (p.Glu2235Ter)
c.6694G>T (p.Glu2232Ter)
c.6580G>T (p.Glu2194Ter)
c.4564G>T (p.Glu1522Ter)
c.2254G>T (p.Glu752Ter)
n.6953G>T
 gnomAD v4
18g.23905592A>CCA402051425LAMA3c.1859A>C (p.Glu620Ala)
c.6686A>C (p.Glu2229Ala)
c.3578A>C (p.Glu1193Ala)
c.6518A>C (p.Glu2173Ala)
c.1464A>C
c.1691A>C (p.Glu564Ala)
n.1264A>C
c.6713A>C (p.Glu2238Ala)
c.6704A>C (p.Glu2235Ala)
c.6695A>C (p.Glu2232Ala)
c.6581A>C (p.Glu2194Ala)
c.4565A>C (p.Glu1522Ala)
c.2255A>C (p.Glu752Ala)
n.6954A>C
18g.23905592A>GCA402051426LAMA3c.1859A>G (p.Glu620Gly)
c.6686A>G (p.Glu2229Gly)
c.3578A>G (p.Glu1193Gly)
c.6518A>G (p.Glu2173Gly)
c.1464A>G
c.1691A>G (p.Glu564Gly)
n.1264A>G
c.6713A>G (p.Glu2238Gly)
c.6704A>G (p.Glu2235Gly)
c.6695A>G (p.Glu2232Gly)
c.6581A>G (p.Glu2194Gly)
c.4565A>G (p.Glu1522Gly)
c.2255A>G (p.Glu752Gly)
n.6954A>G
18g.23905592A>TCA402051427LAMA3c.1859A>T (p.Glu620Val)
c.6686A>T (p.Glu2229Val)
c.3578A>T (p.Glu1193Val)
c.6518A>T (p.Glu2173Val)
c.1464A>T
c.1691A>T (p.Glu564Val)
n.1264A>T
c.6713A>T (p.Glu2238Val)
c.6704A>T (p.Glu2235Val)
c.6695A>T (p.Glu2232Val)
c.6581A>T (p.Glu2194Val)
c.4565A>T (p.Glu1522Val)
c.2255A>T (p.Glu752Val)
n.6954A>T
18g.23905593A>CCA402051428LAMA3c.1860A>C (p.Glu620Asp)
c.6687A>C (p.Glu2229Asp)
c.3579A>C (p.Glu1193Asp)
c.6519A>C (p.Glu2173Asp)
c.1465A>C
c.1692A>C (p.Glu564Asp)
n.1265A>C
c.6714A>C (p.Glu2238Asp)
c.6705A>C (p.Glu2235Asp)
c.6696A>C (p.Glu2232Asp)
c.6582A>C (p.Glu2194Asp)
c.4566A>C (p.Glu1522Asp)
c.2256A>C (p.Glu752Asp)
n.6955A>C
18g.23905593A>GCA503336623LAMA3c.1860A>G (p.Glu620=)
c.6687A>G (p.Glu2229=)
c.3579A>G (p.Glu1193=)
c.6519A>G (p.Glu2173=)
c.1465A>G
c.1692A>G (p.Glu564=)
n.1265A>G
c.6714A>G (p.Glu2238=)
c.6705A>G (p.Glu2235=)
c.6696A>G (p.Glu2232=)
c.6582A>G (p.Glu2194=)
c.4566A>G (p.Glu1522=)
c.2256A>G (p.Glu752=)
n.6955A>G
18g.23905593A>TCA402051429LAMA3c.1860A>T (p.Glu620Asp)
c.6687A>T (p.Glu2229Asp)
c.3579A>T (p.Glu1193Asp)
c.6519A>T (p.Glu2173Asp)
c.1465A>T
c.1692A>T (p.Glu564Asp)
n.1265A>T
c.6714A>T (p.Glu2238Asp)
c.6705A>T (p.Glu2235Asp)
c.6696A>T (p.Glu2232Asp)
c.6582A>T (p.Glu2194Asp)
c.4566A>T (p.Glu1522Asp)
c.2256A>T (p.Glu752Asp)
n.6955A>T
18g.23905594G>ACA402051430LAMA3c.1861G>A (p.Ala621Thr)
c.6688G>A (p.Ala2230Thr)
c.3580G>A (p.Ala1194Thr)
c.6520G>A (p.Ala2174Thr)
c.1466G>A
c.1693G>A (p.Ala565Thr)
n.1266G>A
c.6715G>A (p.Ala2239Thr)
c.6706G>A (p.Ala2236Thr)
c.6697G>A (p.Ala2233Thr)
c.6583G>A (p.Ala2195Thr)
c.4567G>A (p.Ala1523Thr)
c.2257G>A (p.Ala753Thr)
n.6956G>A
18g.23905594G>CCA402051431LAMA3c.1861G>C (p.Ala621Pro)
c.6688G>C (p.Ala2230Pro)
c.3580G>C (p.Ala1194Pro)
c.6520G>C (p.Ala2174Pro)
c.1466G>C
c.1693G>C (p.Ala565Pro)
n.1266G>C
c.6715G>C (p.Ala2239Pro)
c.6706G>C (p.Ala2236Pro)
c.6697G>C (p.Ala2233Pro)
c.6583G>C (p.Ala2195Pro)
c.4567G>C (p.Ala1523Pro)
c.2257G>C (p.Ala753Pro)
n.6956G>C
18g.23905594G>TCA402051432LAMA3c.1861G>T (p.Ala621Ser)
c.6688G>T (p.Ala2230Ser)
c.3580G>T (p.Ala1194Ser)
c.6520G>T (p.Ala2174Ser)
c.1466G>T
c.1693G>T (p.Ala565Ser)
n.1266G>T
c.6715G>T (p.Ala2239Ser)
c.6706G>T (p.Ala2236Ser)
c.6697G>T (p.Ala2233Ser)
c.6583G>T (p.Ala2195Ser)
c.4567G>T (p.Ala1523Ser)
c.2257G>T (p.Ala753Ser)
n.6956G>T
18g.23905595C>ACA402051433LAMA3c.1862C>A (p.Ala621Asp)
c.6689C>A (p.Ala2230Asp)
c.3581C>A (p.Ala1194Asp)
c.6521C>A (p.Ala2174Asp)
c.1467C>A
c.1694C>A (p.Ala565Asp)
n.1267C>A
c.6716C>A (p.Ala2239Asp)
c.6707C>A (p.Ala2236Asp)
c.6698C>A (p.Ala2233Asp)
c.6584C>A (p.Ala2195Asp)
c.4568C>A (p.Ala1523Asp)
c.2258C>A (p.Ala753Asp)
n.6957C>A
 gnomAD v4
18g.23905595C>GCA402051434LAMA3c.1862C>G (p.Ala621Gly)
c.6689C>G (p.Ala2230Gly)
c.3581C>G (p.Ala1194Gly)
c.6521C>G (p.Ala2174Gly)
c.1467C>G
c.1694C>G (p.Ala565Gly)
n.1267C>G
c.6716C>G (p.Ala2239Gly)
c.6707C>G (p.Ala2236Gly)
c.6698C>G (p.Ala2233Gly)
c.6584C>G (p.Ala2195Gly)
c.4568C>G (p.Ala1523Gly)
c.2258C>G (p.Ala753Gly)
n.6957C>G
18g.23905595C>TCA402051435LAMA3c.1862C>T (p.Ala621Val)
c.6689C>T (p.Ala2230Val)
c.3581C>T (p.Ala1194Val)
c.6521C>T (p.Ala2174Val)
c.1467C>T
c.1694C>T (p.Ala565Val)
n.1267C>T
c.6716C>T (p.Ala2239Val)
c.6707C>T (p.Ala2236Val)
c.6698C>T (p.Ala2233Val)
c.6584C>T (p.Ala2195Val)
c.4568C>T (p.Ala1523Val)
c.2258C>T (p.Ala753Val)
n.6957C>T
 gnomAD v4
18g.23905596C>ACA503336626LAMA3c.1863C>A (p.Ala621=)
c.6690C>A (p.Ala2230=)
c.3582C>A (p.Ala1194=)
c.6522C>A (p.Ala2174=)
c.1468C>A
c.1695C>A (p.Ala565=)
n.1268C>A
c.6717C>A (p.Ala2239=)
c.6708C>A (p.Ala2236=)
c.6699C>A (p.Ala2233=)
c.6585C>A (p.Ala2195=)
c.4569C>A (p.Ala1523=)
c.2259C>A (p.Ala753=)
n.6958C>A
 ClinVar dbSNP gnomAD v4
18g.23905596C=CA2290325062LAMA3c.1863C= (p.Ala621=)
c.6690C= (p.Ala2230=)
c.3582C= (p.Ala1194=)
c.6522C= (p.Ala2174=)
c.1468C=
c.1695C= (p.Ala565=)
n.1268C=
c.6717C= (p.Ala2239=)
c.6708C= (p.Ala2236=)
c.6699C= (p.Ala2233=)
c.6585C= (p.Ala2195=)
c.4569C= (p.Ala1523=)
c.2259C= (p.Ala753=)
n.6958C=
18g.23905596C>GCA503336624LAMA3c.1863C>G (p.Ala621=)
c.6690C>G (p.Ala2230=)
c.3582C>G (p.Ala1194=)
c.6522C>G (p.Ala2174=)
c.1468C>G
c.1695C>G (p.Ala565=)
n.1268C>G
c.6717C>G (p.Ala2239=)
c.6708C>G (p.Ala2236=)
c.6699C>G (p.Ala2233=)
c.6585C>G (p.Ala2195=)
c.4569C>G (p.Ala1523=)
c.2259C>G (p.Ala753=)
n.6958C>G
18g.23905596C>TCA10650624LAMA3c.1863C>T (p.Ala621=)
c.6690C>T (p.Ala2230=)
c.3582C>T (p.Ala1194=)
c.6522C>T (p.Ala2174=)
c.1468C>T
c.1695C>T (p.Ala565=)
n.1268C>T
c.6717C>T (p.Ala2239=)
c.6708C>T (p.Ala2236=)
c.6699C>T (p.Ala2233=)
c.6585C>T (p.Ala2195=)
c.4569C>T (p.Ala1523=)
c.2259C>T (p.Ala753=)
n.6958C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.23905597A=CA2290325063LAMA3c.1864A= (p.Lys622=)
c.6691A= (p.Lys2231=)
c.3583A= (p.Lys1195=)
c.6523A= (p.Lys2175=)
c.1469A=
c.1696A= (p.Lys566=)
n.1269A=
c.6718A= (p.Lys2240=)
c.6709A= (p.Lys2237=)
c.6700A= (p.Lys2234=)
c.6586A= (p.Lys2196=)
c.4570A= (p.Lys1524=)
c.2260A= (p.Lys754=)
n.6959A=
18g.23905597A>CCA402051438LAMA3c.1864A>C (p.Lys622Gln)
c.6691A>C (p.Lys2231Gln)
c.3583A>C (p.Lys1195Gln)
c.6523A>C (p.Lys2175Gln)
c.1469A>C
c.1696A>C (p.Lys566Gln)
n.1269A>C
c.6718A>C (p.Lys2240Gln)
c.6709A>C (p.Lys2237Gln)
c.6700A>C (p.Lys2234Gln)
c.6586A>C (p.Lys2196Gln)
c.4570A>C (p.Lys1524Gln)
c.2260A>C (p.Lys754Gln)
n.6959A>C
18g.23905597A>GCA402051437LAMA3c.1864A>G (p.Lys622Glu)
c.6691A>G (p.Lys2231Glu)
c.3583A>G (p.Lys1195Glu)
c.6523A>G (p.Lys2175Glu)
c.1469A>G
c.1696A>G (p.Lys566Glu)
n.1269A>G
c.6718A>G (p.Lys2240Glu)
c.6709A>G (p.Lys2237Glu)
c.6700A>G (p.Lys2234Glu)
c.6586A>G (p.Lys2196Glu)
c.4570A>G (p.Lys1524Glu)
c.2260A>G (p.Lys754Glu)
n.6959A>G
 dbSNP gnomAD v2 gnomAD v4
18g.23905597A>TCA402051436LAMA3c.1864A>T (p.Lys622Ter)
c.6691A>T (p.Lys2231Ter)
c.3583A>T (p.Lys1195Ter)
c.6523A>T (p.Lys2175Ter)
c.1469A>T
c.1696A>T (p.Lys566Ter)
n.1269A>T
c.6718A>T (p.Lys2240Ter)
c.6709A>T (p.Lys2237Ter)
c.6700A>T (p.Lys2234Ter)
c.6586A>T (p.Lys2196Ter)
c.4570A>T (p.Lys1524Ter)
c.2260A>T (p.Lys754Ter)
n.6959A>T
 ClinVar
18g.23905598A>CCA402051439LAMA3c.1865A>C (p.Lys622Thr)
c.6692A>C (p.Lys2231Thr)
c.3584A>C (p.Lys1195Thr)
c.6524A>C (p.Lys2175Thr)
c.1470A>C
c.1697A>C (p.Lys566Thr)
n.1270A>C
c.6719A>C (p.Lys2240Thr)
c.6710A>C (p.Lys2237Thr)
c.6701A>C (p.Lys2234Thr)
c.6587A>C (p.Lys2196Thr)
c.4571A>C (p.Lys1524Thr)
c.2261A>C (p.Lys754Thr)
n.6960A>C
 gnomAD v4
18g.23905598A>GCA402051441LAMA3c.1865A>G (p.Lys622Arg)
c.6692A>G (p.Lys2231Arg)
c.3584A>G (p.Lys1195Arg)
c.6524A>G (p.Lys2175Arg)
c.1470A>G
c.1697A>G (p.Lys566Arg)
n.1270A>G
c.6719A>G (p.Lys2240Arg)
c.6710A>G (p.Lys2237Arg)
c.6701A>G (p.Lys2234Arg)
c.6587A>G (p.Lys2196Arg)
c.4571A>G (p.Lys1524Arg)
c.2261A>G (p.Lys754Arg)
n.6960A>G
18g.23905598A>TCA402051440LAMA3c.1865A>T (p.Lys622Met)
c.6692A>T (p.Lys2231Met)
c.3584A>T (p.Lys1195Met)
c.6524A>T (p.Lys2175Met)
c.1470A>T
c.1697A>T (p.Lys566Met)
n.1270A>T
c.6719A>T (p.Lys2240Met)
c.6710A>T (p.Lys2237Met)
c.6701A>T (p.Lys2234Met)
c.6587A>T (p.Lys2196Met)
c.4571A>T (p.Lys1524Met)
c.2261A>T (p.Lys754Met)
n.6960A>T
18g.23905599G>ACA503336629LAMA3c.1866G>A (p.Lys622=)
c.6693G>A (p.Lys2231=)
c.3585G>A (p.Lys1195=)
c.6525G>A (p.Lys2175=)
c.1471G>A
c.1698G>A (p.Lys566=)
n.1271G>A
c.6720G>A (p.Lys2240=)
c.6711G>A (p.Lys2237=)
c.6702G>A (p.Lys2234=)
c.6588G>A (p.Lys2196=)
c.4572G>A (p.Lys1524=)
c.2262G>A (p.Lys754=)
n.6961G>A
18g.23905599G>CCA402051442LAMA3c.1866G>C (p.Lys622Asn)
c.6693G>C (p.Lys2231Asn)
c.3585G>C (p.Lys1195Asn)
c.6525G>C (p.Lys2175Asn)
c.1471G>C
c.1698G>C (p.Lys566Asn)
n.1271G>C
c.6720G>C (p.Lys2240Asn)
c.6711G>C (p.Lys2237Asn)
c.6702G>C (p.Lys2234Asn)
c.6588G>C (p.Lys2196Asn)
c.4572G>C (p.Lys1524Asn)
c.2262G>C (p.Lys754Asn)
n.6961G>C
18g.23905599G=CA2290325064LAMA3c.1866G= (p.Lys622=)
c.6693G= (p.Lys2231=)
c.3585G= (p.Lys1195=)
c.6525G= (p.Lys2175=)
c.1471G=
c.1698G= (p.Lys566=)
n.1271G=
c.6720G= (p.Lys2240=)
c.6711G= (p.Lys2237=)
c.6702G= (p.Lys2234=)
c.6588G= (p.Lys2196=)
c.4572G= (p.Lys1524=)
c.2262G= (p.Lys754=)
n.6961G=
18g.23905599G>TCA8916456LAMA3c.1866G>T (p.Lys622Asn)
c.6693G>T (p.Lys2231Asn)
c.3585G>T (p.Lys1195Asn)
c.6525G>T (p.Lys2175Asn)
c.1471G>T
c.1698G>T (p.Lys566Asn)
n.1271G>T
c.6720G>T (p.Lys2240Asn)
c.6711G>T (p.Lys2237Asn)
c.6702G>T (p.Lys2234Asn)
c.6588G>T (p.Lys2196Asn)
c.4572G>T (p.Lys1524Asn)
c.2262G>T (p.Lys754Asn)
n.6961G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23905600A=CA2290325065LAMA3c.1867A= (p.Met623=)
c.6694A= (p.Met2232=)
c.3586A= (p.Met1196=)
c.6526A= (p.Met2176=)
c.1472A=
c.1699A= (p.Met567=)
n.1272A=
c.6721A= (p.Met2241=)
c.6712A= (p.Met2238=)
c.6703A= (p.Met2235=)
c.6589A= (p.Met2197=)
c.4573A= (p.Met1525=)
c.2263A= (p.Met755=)
n.6962A=
18g.23905600A>CCA402051443LAMA3c.1867A>C (p.Met623Leu)
c.6694A>C (p.Met2232Leu)
c.3586A>C (p.Met1196Leu)
c.6526A>C (p.Met2176Leu)
c.1472A>C
c.1699A>C (p.Met567Leu)
n.1272A>C
c.6721A>C (p.Met2241Leu)
c.6712A>C (p.Met2238Leu)
c.6703A>C (p.Met2235Leu)
c.6589A>C (p.Met2197Leu)
c.4573A>C (p.Met1525Leu)
c.2263A>C (p.Met755Leu)
n.6962A>C
18g.23905600A>GCA402051444LAMA3c.1867A>G (p.Met623Val)
c.6694A>G (p.Met2232Val)
c.3586A>G (p.Met1196Val)
c.6526A>G (p.Met2176Val)
c.1472A>G
c.1699A>G (p.Met567Val)
n.1272A>G
c.6721A>G (p.Met2241Val)
c.6712A>G (p.Met2238Val)
c.6703A>G (p.Met2235Val)
c.6589A>G (p.Met2197Val)
c.4573A>G (p.Met1525Val)
c.2263A>G (p.Met755Val)
n.6962A>G
 dbSNP gnomAD v2 gnomAD v4
18g.23905600A>TCA8916457LAMA3c.1867A>T (p.Met623Leu)
c.6694A>T (p.Met2232Leu)
c.3586A>T (p.Met1196Leu)
c.6526A>T (p.Met2176Leu)
c.1472A>T
c.1699A>T (p.Met567Leu)
n.1272A>T
c.6721A>T (p.Met2241Leu)
c.6712A>T (p.Met2238Leu)
c.6703A>T (p.Met2235Leu)
c.6589A>T (p.Met2197Leu)
c.4573A>T (p.Met1525Leu)
c.2263A>T (p.Met755Leu)
n.6962A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23905601T>ACA402051445LAMA3c.1868T>A (p.Met623Lys)
c.6695T>A (p.Met2232Lys)
c.3587T>A (p.Met1196Lys)
c.6527T>A (p.Met2176Lys)
c.1473T>A
c.1700T>A (p.Met567Lys)
n.1273T>A
c.6722T>A (p.Met2241Lys)
c.6713T>A (p.Met2238Lys)
c.6704T>A (p.Met2235Lys)
c.6590T>A (p.Met2197Lys)
c.4574T>A (p.Met1525Lys)
c.2264T>A (p.Met755Lys)
n.6963T>A
18g.23905601T>CCA402051447LAMA3c.1868T>C (p.Met623Thr)
c.6695T>C (p.Met2232Thr)
c.3587T>C (p.Met1196Thr)
c.6527T>C (p.Met2176Thr)
c.1473T>C
c.1700T>C (p.Met567Thr)
n.1273T>C
c.6722T>C (p.Met2241Thr)
c.6713T>C (p.Met2238Thr)
c.6704T>C (p.Met2235Thr)
c.6590T>C (p.Met2197Thr)
c.4574T>C (p.Met1525Thr)
c.2264T>C (p.Met755Thr)
n.6963T>C
 gnomAD v4
18g.23905601T>GCA402051446LAMA3c.1868T>G (p.Met623Arg)
c.6695T>G (p.Met2232Arg)
c.3587T>G (p.Met1196Arg)
c.6527T>G (p.Met2176Arg)
c.1473T>G
c.1700T>G (p.Met567Arg)
n.1273T>G
c.6722T>G (p.Met2241Arg)
c.6713T>G (p.Met2238Arg)
c.6704T>G (p.Met2235Arg)
c.6590T>G (p.Met2197Arg)
c.4574T>G (p.Met1525Arg)
c.2264T>G (p.Met755Arg)
n.6963T>G
18g.23905602G>ACA402051448LAMA3c.1869G>A (p.Met623Ile)
c.6696G>A (p.Met2232Ile)
c.3588G>A (p.Met1196Ile)
c.6528G>A (p.Met2176Ile)
c.1474G>A
c.1701G>A (p.Met567Ile)
n.1274G>A
c.6723G>A (p.Met2241Ile)
c.6714G>A (p.Met2238Ile)
c.6705G>A (p.Met2235Ile)
c.6591G>A (p.Met2197Ile)
c.4575G>A (p.Met1525Ile)
c.2265G>A (p.Met755Ile)
n.6964G>A
 COSMIC COSMIC
18g.23905602G>CCA402051450LAMA3c.1869G>C (p.Met623Ile)
c.6696G>C (p.Met2232Ile)
c.3588G>C (p.Met1196Ile)
c.6528G>C (p.Met2176Ile)
c.1474G>C
c.1701G>C (p.Met567Ile)
n.1274G>C
c.6723G>C (p.Met2241Ile)
c.6714G>C (p.Met2238Ile)
c.6705G>C (p.Met2235Ile)
c.6591G>C (p.Met2197Ile)
c.4575G>C (p.Met1525Ile)
c.2265G>C (p.Met755Ile)
n.6964G>C
 COSMIC
18g.23905602G>TCA402051449LAMA3c.1869G>T (p.Met623Ile)
c.6696G>T (p.Met2232Ile)
c.3588G>T (p.Met1196Ile)
c.6528G>T (p.Met2176Ile)
c.1474G>T
c.1701G>T (p.Met567Ile)
n.1274G>T
c.6723G>T (p.Met2241Ile)
c.6714G>T (p.Met2238Ile)
c.6705G>T (p.Met2235Ile)
c.6591G>T (p.Met2197Ile)
c.4575G>T (p.Met1525Ile)
c.2265G>T (p.Met755Ile)
n.6964G>T
 gnomAD v4
18g.23905603A>CCA402051451LAMA3c.1870A>C (p.Thr624Pro)
c.6697A>C (p.Thr2233Pro)
c.3589A>C (p.Thr1197Pro)
c.6529A>C (p.Thr2177Pro)
c.1475A>C
c.1702A>C (p.Thr568Pro)
n.1275A>C
c.6724A>C (p.Thr2242Pro)
c.6715A>C (p.Thr2239Pro)
c.6706A>C (p.Thr2236Pro)
c.6592A>C (p.Thr2198Pro)
c.4576A>C (p.Thr1526Pro)
c.2266A>C (p.Thr756Pro)
n.6965A>C
18g.23905603A>GCA402051452LAMA3c.1870A>G (p.Thr624Ala)
c.6697A>G (p.Thr2233Ala)
c.3589A>G (p.Thr1197Ala)
c.6529A>G (p.Thr2177Ala)
c.1475A>G
c.1702A>G (p.Thr568Ala)
n.1275A>G
c.6724A>G (p.Thr2242Ala)
c.6715A>G (p.Thr2239Ala)
c.6706A>G (p.Thr2236Ala)
c.6592A>G (p.Thr2198Ala)
c.4576A>G (p.Thr1526Ala)
c.2266A>G (p.Thr756Ala)
n.6965A>G
18g.23905603A>TCA402051453LAMA3c.1870A>T (p.Thr624Ser)
c.6697A>T (p.Thr2233Ser)
c.3589A>T (p.Thr1197Ser)
c.6529A>T (p.Thr2177Ser)
c.1475A>T
c.1702A>T (p.Thr568Ser)
n.1275A>T
c.6724A>T (p.Thr2242Ser)
c.6715A>T (p.Thr2239Ser)
c.6706A>T (p.Thr2236Ser)
c.6592A>T (p.Thr2198Ser)
c.4576A>T (p.Thr1526Ser)
c.2266A>T (p.Thr756Ser)
n.6965A>T
 gnomAD v4
18g.23905604C>ACA402051454LAMA3c.1871C>A (p.Thr624Lys)
c.6698C>A (p.Thr2233Lys)
c.3590C>A (p.Thr1197Lys)
c.6530C>A (p.Thr2177Lys)
c.1476C>A
c.1703C>A (p.Thr568Lys)
n.1276C>A
c.6725C>A (p.Thr2242Lys)
c.6716C>A (p.Thr2239Lys)
c.6707C>A (p.Thr2236Lys)
c.6593C>A (p.Thr2198Lys)
c.4577C>A (p.Thr1526Lys)
c.2267C>A (p.Thr756Lys)
n.6966C>A
18g.23905604C>GCA402051455LAMA3c.1871C>G (p.Thr624Arg)
c.6698C>G (p.Thr2233Arg)
c.3590C>G (p.Thr1197Arg)
c.6530C>G (p.Thr2177Arg)
c.1476C>G
c.1703C>G (p.Thr568Arg)
n.1276C>G
c.6725C>G (p.Thr2242Arg)
c.6716C>G (p.Thr2239Arg)
c.6707C>G (p.Thr2236Arg)
c.6593C>G (p.Thr2198Arg)
c.4577C>G (p.Thr1526Arg)
c.2267C>G (p.Thr756Arg)
n.6966C>G
18g.23905604C>TCA402051456LAMA3c.1871C>T (p.Thr624Ile)
c.6698C>T (p.Thr2233Ile)
c.3590C>T (p.Thr1197Ile)
c.6530C>T (p.Thr2177Ile)
c.1476C>T
c.1703C>T (p.Thr568Ile)
n.1276C>T
c.6725C>T (p.Thr2242Ile)
c.6716C>T (p.Thr2239Ile)
c.6707C>T (p.Thr2236Ile)
c.6593C>T (p.Thr2198Ile)
c.4577C>T (p.Thr1526Ile)
c.2267C>T (p.Thr756Ile)
n.6966C>T
 gnomAD v4
18g.23905605A>CCA503336637LAMA3c.1872A>C (p.Thr624=)
c.6699A>C (p.Thr2233=)
c.3591A>C (p.Thr1197=)
c.6531A>C (p.Thr2177=)
c.1477A>C
c.1704A>C (p.Thr568=)
n.1277A>C
c.6726A>C (p.Thr2242=)
c.6717A>C (p.Thr2239=)
c.6708A>C (p.Thr2236=)
c.6594A>C (p.Thr2198=)
c.4578A>C (p.Thr1526=)
c.2268A>C (p.Thr756=)
n.6967A>C
18g.23905605A>GCA503336638LAMA3c.1872A>G (p.Thr624=)
c.6699A>G (p.Thr2233=)
c.3591A>G (p.Thr1197=)
c.6531A>G (p.Thr2177=)
c.1477A>G
c.1704A>G (p.Thr568=)
n.1277A>G
c.6726A>G (p.Thr2242=)
c.6717A>G (p.Thr2239=)
c.6708A>G (p.Thr2236=)
c.6594A>G (p.Thr2198=)
c.4578A>G (p.Thr1526=)
c.2268A>G (p.Thr756=)
n.6967A>G
18g.23905605A>TCA503336639LAMA3c.1872A>T (p.Thr624=)
c.6699A>T (p.Thr2233=)
c.3591A>T (p.Thr1197=)
c.6531A>T (p.Thr2177=)
c.1477A>T
c.1704A>T (p.Thr568=)
n.1277A>T
c.6726A>T (p.Thr2242=)
c.6717A>T (p.Thr2239=)
c.6708A>T (p.Thr2236=)
c.6594A>T (p.Thr2198=)
c.4578A>T (p.Thr1526=)
c.2268A>T (p.Thr756=)
n.6967A>T
18g.23905606C>ACA8916458LAMA3c.1873C>A (p.Gln625Lys)
c.6700C>A (p.Gln2234Lys)
c.3592C>A (p.Gln1198Lys)
c.6532C>A (p.Gln2178Lys)
c.1478C>A
c.1705C>A (p.Gln569Lys)
n.1278C>A
c.6727C>A (p.Gln2243Lys)
c.6718C>A (p.Gln2240Lys)
c.6709C>A (p.Gln2237Lys)
c.6595C>A (p.Gln2199Lys)
c.4579C>A (p.Gln1527Lys)
c.2269C>A (p.Gln757Lys)
n.6968C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
18g.23905606C=CA2290325066LAMA3c.1873C= (p.Gln625=)
c.6700C= (p.Gln2234=)
c.3592C= (p.Gln1198=)
c.6532C= (p.Gln2178=)
c.1478C=
c.1705C= (p.Gln569=)
n.1278C=
c.6727C= (p.Gln2243=)
c.6718C= (p.Gln2240=)
c.6709C= (p.Gln2237=)
c.6595C= (p.Gln2199=)
c.4579C= (p.Gln1527=)
c.2269C= (p.Gln757=)
n.6968C=
18g.23905606C>GCA402051457LAMA3c.1873C>G (p.Gln625Glu)
c.6700C>G (p.Gln2234Glu)
c.3592C>G (p.Gln1198Glu)
c.6532C>G (p.Gln2178Glu)
c.1478C>G
c.1705C>G (p.Gln569Glu)
n.1278C>G
c.6727C>G (p.Gln2243Glu)
c.6718C>G (p.Gln2240Glu)
c.6709C>G (p.Gln2237Glu)
c.6595C>G (p.Gln2199Glu)
c.4579C>G (p.Gln1527Glu)
c.2269C>G (p.Gln757Glu)
n.6968C>G
18g.23905606C>TCA402051458LAMA3c.1873C>T (p.Gln625Ter)
c.6700C>T (p.Gln2234Ter)
c.3592C>T (p.Gln1198Ter)
c.6532C>T (p.Gln2178Ter)
c.1478C>T
c.1705C>T (p.Gln569Ter)
n.1278C>T
c.6727C>T (p.Gln2243Ter)
c.6718C>T (p.Gln2240Ter)
c.6709C>T (p.Gln2237Ter)
c.6595C>T (p.Gln2199Ter)
c.4579C>T (p.Gln1527Ter)
c.2269C>T (p.Gln757Ter)
n.6968C>T
18g.23905607A=CA2290325067LAMA3c.1874A= (p.Gln625=)
c.6701A= (p.Gln2234=)
c.3593A= (p.Gln1198=)
c.6533A= (p.Gln2178=)
c.1479A=
c.1706A= (p.Gln569=)
n.1279A=
c.6728A= (p.Gln2243=)
c.6719A= (p.Gln2240=)
c.6710A= (p.Gln2237=)
c.6596A= (p.Gln2199=)
c.4580A= (p.Gln1527=)
c.2270A= (p.Gln757=)
n.6969A=
18g.23905607A>CCA402051461LAMA3c.1874A>C (p.Gln625Pro)
c.6701A>C (p.Gln2234Pro)
c.3593A>C (p.Gln1198Pro)
c.6533A>C (p.Gln2178Pro)
c.1479A>C
c.1706A>C (p.Gln569Pro)
n.1279A>C
c.6728A>C (p.Gln2243Pro)
c.6719A>C (p.Gln2240Pro)
c.6710A>C (p.Gln2237Pro)
c.6596A>C (p.Gln2199Pro)
c.4580A>C (p.Gln1527Pro)
c.2270A>C (p.Gln757Pro)
n.6969A>C
 gnomAD v4
18g.23905607A>GCA402051460LAMA3c.1874A>G (p.Gln625Arg)
c.6701A>G (p.Gln2234Arg)
c.3593A>G (p.Gln1198Arg)
c.6533A>G (p.Gln2178Arg)
c.1479A>G
c.1706A>G (p.Gln569Arg)
n.1279A>G
c.6728A>G (p.Gln2243Arg)
c.6719A>G (p.Gln2240Arg)
c.6710A>G (p.Gln2237Arg)
c.6596A>G (p.Gln2199Arg)
c.4580A>G (p.Gln1527Arg)
c.2270A>G (p.Gln757Arg)
n.6969A>G
 dbSNP gnomAD v4
18g.23905607A>TCA402051459LAMA3c.1874A>T (p.Gln625Leu)
c.6701A>T (p.Gln2234Leu)
c.3593A>T (p.Gln1198Leu)
c.6533A>T (p.Gln2178Leu)
c.1479A>T
c.1706A>T (p.Gln569Leu)
n.1279A>T
c.6728A>T (p.Gln2243Leu)
c.6719A>T (p.Gln2240Leu)
c.6710A>T (p.Gln2237Leu)
c.6596A>T (p.Gln2199Leu)
c.4580A>T (p.Gln1527Leu)
c.2270A>T (p.Gln757Leu)
n.6969A>T
18g.23905610delCA2641294856LAMA3c.1877del (p.Lys626ArgfsTer3)
c.6704del (p.Lys2235ArgfsTer3)
c.3596del (p.Lys1199ArgfsTer3)
c.6536del (p.Lys2179ArgfsTer3)
c.1482del
c.1709del (p.Lys570ArgfsTer3)
n.1282del
c.6731del (p.Lys2244ArgfsTer3)
c.6722del (p.Lys2241ArgfsTer3)
c.6713del (p.Lys2238ArgfsTer3)
c.6599del (p.Lys2200ArgfsTer3)
c.4583del (p.Lys1528ArgfsTer3)
c.2273del (p.Lys758ArgfsTer3)
n.6972del
 gnomAD v4
18g.23905608A>CCA402051462LAMA3c.1875A>C (p.Gln625His)
c.6702A>C (p.Gln2234His)
c.3594A>C (p.Gln1198His)
c.6534A>C (p.Gln2178His)
c.1480A>C
c.1707A>C (p.Gln569His)
n.1280A>C
c.6729A>C (p.Gln2243His)
c.6720A>C (p.Gln2240His)
c.6711A>C (p.Gln2237His)
c.6597A>C (p.Gln2199His)
c.4581A>C (p.Gln1527His)
c.2271A>C (p.Gln757His)
n.6970A>C
18g.23905608A>GCA503336640LAMA3c.1875A>G (p.Gln625=)
c.6702A>G (p.Gln2234=)
c.3594A>G (p.Gln1198=)
c.6534A>G (p.Gln2178=)
c.1480A>G
c.1707A>G (p.Gln569=)
n.1280A>G
c.6729A>G (p.Gln2243=)
c.6720A>G (p.Gln2240=)
c.6711A>G (p.Gln2237=)
c.6597A>G (p.Gln2199=)
c.4581A>G (p.Gln1527=)
c.2271A>G (p.Gln757=)
n.6970A>G
18g.23905608A>TCA402051463LAMA3c.1875A>T (p.Gln625His)
c.6702A>T (p.Gln2234His)
c.3594A>T (p.Gln1198His)
c.6534A>T (p.Gln2178His)
c.1480A>T
c.1707A>T (p.Gln569His)
n.1280A>T
c.6729A>T (p.Gln2243His)
c.6720A>T (p.Gln2240His)
c.6711A>T (p.Gln2237His)
c.6597A>T (p.Gln2199His)
c.4581A>T (p.Gln1527His)
c.2271A>T (p.Gln757His)
n.6970A>T
18g.23905609A>CCA402051464LAMA3c.1876A>C (p.Lys626Gln)
c.6703A>C (p.Lys2235Gln)
c.3595A>C (p.Lys1199Gln)
c.6535A>C (p.Lys2179Gln)
c.1481A>C
c.1708A>C (p.Lys570Gln)
n.1281A>C
c.6730A>C (p.Lys2244Gln)
c.6721A>C (p.Lys2241Gln)
c.6712A>C (p.Lys2238Gln)
c.6598A>C (p.Lys2200Gln)
c.4582A>C (p.Lys1528Gln)
c.2272A>C (p.Lys758Gln)
n.6971A>C
18g.23905609A>GCA402051465LAMA3c.1876A>G (p.Lys626Glu)
c.6703A>G (p.Lys2235Glu)
c.3595A>G (p.Lys1199Glu)
c.6535A>G (p.Lys2179Glu)
c.1481A>G
c.1708A>G (p.Lys570Glu)
n.1281A>G
c.6730A>G (p.Lys2244Glu)
c.6721A>G (p.Lys2241Glu)
c.6712A>G (p.Lys2238Glu)
c.6598A>G (p.Lys2200Glu)
c.4582A>G (p.Lys1528Glu)
c.2272A>G (p.Lys758Glu)
n.6971A>G
18g.23905609A>TCA402051466LAMA3c.1876A>T (p.Lys626Ter)
c.6703A>T (p.Lys2235Ter)
c.3595A>T (p.Lys1199Ter)
c.6535A>T (p.Lys2179Ter)
c.1481A>T
c.1708A>T (p.Lys570Ter)
n.1281A>T
c.6730A>T (p.Lys2244Ter)
c.6721A>T (p.Lys2241Ter)
c.6712A>T (p.Lys2238Ter)
c.6598A>T (p.Lys2200Ter)
c.4582A>T (p.Lys1528Ter)
c.2272A>T (p.Lys758Ter)
n.6971A>T
18g.23905610A>CCA402051467LAMA3c.1877A>C (p.Lys626Thr)
c.6704A>C (p.Lys2235Thr)
c.3596A>C (p.Lys1199Thr)
c.6536A>C (p.Lys2179Thr)
c.1482A>C
c.1709A>C (p.Lys570Thr)
n.1282A>C
c.6731A>C (p.Lys2244Thr)
c.6722A>C (p.Lys2241Thr)
c.6713A>C (p.Lys2238Thr)
c.6599A>C (p.Lys2200Thr)
c.4583A>C (p.Lys1528Thr)
c.2273A>C (p.Lys758Thr)
n.6972A>C
18g.23905610A>GCA402051468LAMA3c.1877A>G (p.Lys626Arg)
c.6704A>G (p.Lys2235Arg)
c.3596A>G (p.Lys1199Arg)
c.6536A>G (p.Lys2179Arg)
c.1482A>G
c.1709A>G (p.Lys570Arg)
n.1282A>G
c.6731A>G (p.Lys2244Arg)
c.6722A>G (p.Lys2241Arg)
c.6713A>G (p.Lys2238Arg)
c.6599A>G (p.Lys2200Arg)
c.4583A>G (p.Lys1528Arg)
c.2273A>G (p.Lys758Arg)
n.6972A>G
 gnomAD v4
18g.23905610A>TCA402051469LAMA3c.1877A>T (p.Lys626Met)
c.6704A>T (p.Lys2235Met)
c.3596A>T (p.Lys1199Met)
c.6536A>T (p.Lys2179Met)
c.1482A>T
c.1709A>T (p.Lys570Met)
n.1282A>T
c.6731A>T (p.Lys2244Met)
c.6722A>T (p.Lys2241Met)
c.6713A>T (p.Lys2238Met)
c.6599A>T (p.Lys2200Met)
c.4583A>T (p.Lys1528Met)
c.2273A>T (p.Lys758Met)
n.6972A>T
18g.23905611G>ACA503336643LAMA3c.1878G>A (p.Lys626=)
c.6705G>A (p.Lys2235=)
c.3597G>A (p.Lys1199=)
c.6537G>A (p.Lys2179=)
c.1483G>A
c.1710G>A (p.Lys570=)
n.1283G>A
c.6732G>A (p.Lys2244=)
c.6723G>A (p.Lys2241=)
c.6714G>A (p.Lys2238=)
c.6600G>A (p.Lys2200=)
c.4584G>A (p.Lys1528=)
c.2274G>A (p.Lys758=)
n.6973G>A
18g.23905611G>CCA402051470LAMA3c.1878G>C (p.Lys626Asn)
c.6705G>C (p.Lys2235Asn)
c.3597G>C (p.Lys1199Asn)
c.6537G>C (p.Lys2179Asn)
c.1483G>C
c.1710G>C (p.Lys570Asn)
n.1283G>C
c.6732G>C (p.Lys2244Asn)
c.6723G>C (p.Lys2241Asn)
c.6714G>C (p.Lys2238Asn)
c.6600G>C (p.Lys2200Asn)
c.4584G>C (p.Lys1528Asn)
c.2274G>C (p.Lys758Asn)
n.6973G>C
18g.23905611G=CA2290325068LAMA3c.1878G= (p.Lys626=)
c.6705G= (p.Lys2235=)
c.3597G= (p.Lys1199=)
c.6537G= (p.Lys2179=)
c.1483G=
c.1710G= (p.Lys570=)
n.1283G=
c.6732G= (p.Lys2244=)
c.6723G= (p.Lys2241=)
c.6714G= (p.Lys2238=)
c.6600G= (p.Lys2200=)
c.4584G= (p.Lys1528=)
c.2274G= (p.Lys758=)
n.6973G=
18g.23905611G>TCA8916459LAMA3c.1878G>T (p.Lys626Asn)
c.6705G>T (p.Lys2235Asn)
c.3597G>T (p.Lys1199Asn)
c.6537G>T (p.Lys2179Asn)
c.1483G>T
c.1710G>T (p.Lys570Asn)
n.1283G>T
c.6732G>T (p.Lys2244Asn)
c.6723G>T (p.Lys2241Asn)
c.6714G>T (p.Lys2238Asn)
c.6600G>T (p.Lys2200Asn)
c.4584G>T (p.Lys1528Asn)
c.2274G>T (p.Lys758Asn)
n.6973G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23905612A>CCA402051472LAMA3c.1879A>C (p.Lys627Gln)
c.6706A>C (p.Lys2236Gln)
c.3598A>C (p.Lys1200Gln)
c.6538A>C (p.Lys2180Gln)
c.1484A>C
c.1711A>C (p.Lys571Gln)
n.1284A>C
c.6733A>C (p.Lys2245Gln)
c.6724A>C (p.Lys2242Gln)
c.6715A>C (p.Lys2239Gln)
c.6601A>C (p.Lys2201Gln)
c.4585A>C (p.Lys1529Gln)
c.2275A>C (p.Lys759Gln)
n.6974A>C
18g.23905612A>GCA402051473LAMA3c.1879A>G (p.Lys627Glu)
c.6706A>G (p.Lys2236Glu)
c.3598A>G (p.Lys1200Glu)
c.6538A>G (p.Lys2180Glu)
c.1484A>G
c.1711A>G (p.Lys571Glu)
n.1284A>G
c.6733A>G (p.Lys2245Glu)
c.6724A>G (p.Lys2242Glu)
c.6715A>G (p.Lys2239Glu)
c.6601A>G (p.Lys2201Glu)
c.4585A>G (p.Lys1529Glu)
c.2275A>G (p.Lys759Glu)
n.6974A>G
18g.23905612A>TCA402051471LAMA3c.1879A>T (p.Lys627Ter)
c.6706A>T (p.Lys2236Ter)
c.3598A>T (p.Lys1200Ter)
c.6538A>T (p.Lys2180Ter)
c.1484A>T
c.1711A>T (p.Lys571Ter)
n.1284A>T
c.6733A>T (p.Lys2245Ter)
c.6724A>T (p.Lys2242Ter)
c.6715A>T (p.Lys2239Ter)
c.6601A>T (p.Lys2201Ter)
c.4585A>T (p.Lys1529Ter)
c.2275A>T (p.Lys759Ter)
n.6974A>T
18g.23905613delCA2526084641LAMA3c.1880del (p.Lys627SerfsTer2)
c.6707del (p.Lys2236SerfsTer2)
c.3599del (p.Lys1200SerfsTer2)
c.6539del (p.Lys2180SerfsTer2)
c.1485del
c.1712del (p.Lys571SerfsTer2)
n.1285del
c.6734del (p.Lys2245SerfsTer2)
c.6725del (p.Lys2242SerfsTer2)
c.6716del (p.Lys2239SerfsTer2)
c.6602del (p.Lys2201SerfsTer2)
c.4586del (p.Lys1529SerfsTer2)
c.2276del (p.Lys759SerfsTer2)
n.6975del
18g.23905613A>CCA402051474LAMA3c.1880A>C (p.Lys627Thr)
c.6707A>C (p.Lys2236Thr)
c.3599A>C (p.Lys1200Thr)
c.6539A>C (p.Lys2180Thr)
c.1485A>C
c.1712A>C (p.Lys571Thr)
n.1285A>C
c.6734A>C (p.Lys2245Thr)
c.6725A>C (p.Lys2242Thr)
c.6716A>C (p.Lys2239Thr)
c.6602A>C (p.Lys2201Thr)
c.4586A>C (p.Lys1529Thr)
c.2276A>C (p.Lys759Thr)
n.6975A>C
 COSMIC
18g.23905613A>GCA402051475LAMA3c.1880A>G (p.Lys627Arg)
c.6707A>G (p.Lys2236Arg)
c.3599A>G (p.Lys1200Arg)
c.6539A>G (p.Lys2180Arg)
c.1485A>G
c.1712A>G (p.Lys571Arg)
n.1285A>G
c.6734A>G (p.Lys2245Arg)
c.6725A>G (p.Lys2242Arg)
c.6716A>G (p.Lys2239Arg)
c.6602A>G (p.Lys2201Arg)
c.4586A>G (p.Lys1529Arg)
c.2276A>G (p.Lys759Arg)
n.6975A>G
18g.23905613A>TCA402051476LAMA3c.1880A>T (p.Lys627Met)
c.6707A>T (p.Lys2236Met)
c.3599A>T (p.Lys1200Met)
c.6539A>T (p.Lys2180Met)
c.1485A>T
c.1712A>T (p.Lys571Met)
n.1285A>T
c.6734A>T (p.Lys2245Met)
c.6725A>T (p.Lys2242Met)
c.6716A>T (p.Lys2239Met)
c.6602A>T (p.Lys2201Met)
c.4586A>T (p.Lys1529Met)
c.2276A>T (p.Lys759Met)
n.6975A>T
18g.23905613_23905617delinsAGCTACA2290325069LAMA3c.1880_1884delinsAGCTA (p.Lys627=)
c.6707_6711delinsAGCTA (p.Lys2236=)
c.3599_3603delinsAGCTA (p.Lys1200=)
c.6539_6543delinsAGCTA (p.Lys2180=)
c.1485_1489delinsAGCTA
c.1712_1716delinsAGCTA (p.Lys571=)
n.1285_1289delinsAGCTA
c.6734_6738delinsAGCTA (p.Lys2245=)
c.6725_6729delinsAGCTA (p.Lys2242=)
c.6716_6720delinsAGCTA (p.Lys2239=)
c.6602_6606delinsAGCTA (p.Lys2201=)
c.4586_4590delinsAGCTA (p.Lys1529=)
c.2276_2280delinsAGCTA (p.Lys759=)
n.6975_6979delinsAGCTA
18g.23905614G>ACA503336646LAMA3c.1881G>A (p.Lys627=)
c.6708G>A (p.Lys2236=)
c.3600G>A (p.Lys1200=)
c.6540G>A (p.Lys2180=)
c.1486G>A
c.1713G>A (p.Lys571=)
n.1286G>A
c.6735G>A (p.Lys2245=)
c.6726G>A (p.Lys2242=)
c.6717G>A (p.Lys2239=)
c.6603G>A (p.Lys2201=)
c.4587G>A (p.Lys1529=)
c.2277G>A (p.Lys759=)
n.6976G>A
 gnomAD v4
18g.23905614G>CCA8916460LAMA3c.1881G>C (p.Lys627Asn)
c.6708G>C (p.Lys2236Asn)
c.3600G>C (p.Lys1200Asn)
c.6540G>C (p.Lys2180Asn)
c.1486G>C
c.1713G>C (p.Lys571Asn)
n.1286G>C
c.6735G>C (p.Lys2245Asn)
c.6726G>C (p.Lys2242Asn)
c.6717G>C (p.Lys2239Asn)
c.6603G>C (p.Lys2201Asn)
c.4587G>C (p.Lys1529Asn)
c.2277G>C (p.Lys759Asn)
n.6976G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23905614G=CA2290325070LAMA3c.1881G= (p.Lys627=)
c.6708G= (p.Lys2236=)
c.3600G= (p.Lys1200=)
c.6540G= (p.Lys2180=)
c.1486G=
c.1713G= (p.Lys571=)
n.1286G=
c.6735G= (p.Lys2245=)
c.6726G= (p.Lys2242=)
c.6717G= (p.Lys2239=)
c.6603G= (p.Lys2201=)
c.4587G= (p.Lys1529=)
c.2277G= (p.Lys759=)
n.6976G=
18g.23905614G>TCA402051477LAMA3c.1881G>T (p.Lys627Asn)
c.6708G>T (p.Lys2236Asn)
c.3600G>T (p.Lys1200Asn)
c.6540G>T (p.Lys2180Asn)
c.1486G>T
c.1713G>T (p.Lys571Asn)
n.1286G>T
c.6735G>T (p.Lys2245Asn)
c.6726G>T (p.Lys2242Asn)
c.6717G>T (p.Lys2239Asn)
c.6603G>T (p.Lys2201Asn)
c.4587G>T (p.Lys1529Asn)
c.2277G>T (p.Lys759Asn)
n.6976G>T
 dbSNP gnomAD v4
18g.23905614_23905617delinsCCTCA16041937LAMA3c.1881_1884delinsCCT (p.Lys627AsnfsTer17)
c.6708_6711delinsCCT (p.Lys2236AsnfsTer17)
c.3600_3603delinsCCT (p.Lys1200AsnfsTer5)
c.6540_6543delinsCCT (p.Lys2180AsnfsTer17)
c.1486_1489delinsCCT
c.1713_1716delinsCCT (p.Lys571AsnfsTer17)
n.1286_1289delinsCCT
c.6735_6738delinsCCT (p.Lys2245AsnfsTer17)
c.6726_6729delinsCCT (p.Lys2242AsnfsTer17)
c.6717_6720delinsCCT (p.Lys2239AsnfsTer17)
c.6603_6606delinsCCT (p.Lys2201AsnfsTer17)
c.6735_6738delinsCCT (p.Lys2245AsnfsTer5)
c.4587_4590delinsCCT (p.Lys1529AsnfsTer17)
c.2277_2280delinsCCT (p.Lys759AsnfsTer17)
n.6976_6979delinsCCT
 ClinVar dbSNP
18g.23905615C>ACA402051478LAMA3c.1882C>A (p.Leu628Ile)
c.6709C>A (p.Leu2237Ile)
c.3601C>A (p.Leu1201Ile)
c.6541C>A (p.Leu2181Ile)
c.1487C>A
c.1714C>A (p.Leu572Ile)
n.1287C>A
c.6736C>A (p.Leu2246Ile)
c.6727C>A (p.Leu2243Ile)
c.6718C>A (p.Leu2240Ile)
c.6604C>A (p.Leu2202Ile)
c.4588C>A (p.Leu1530Ile)
c.2278C>A (p.Leu760Ile)
n.6977C>A
 dbSNP gnomAD v4
18g.23905615C=CA2290325071LAMA3c.1882C= (p.Leu628=)
c.6709C= (p.Leu2237=)
c.3601C= (p.Leu1201=)
c.6541C= (p.Leu2181=)
c.1487C=
c.1714C= (p.Leu572=)
n.1287C=
c.6736C= (p.Leu2246=)
c.6727C= (p.Leu2243=)
c.6718C= (p.Leu2240=)
c.6604C= (p.Leu2202=)
c.4588C= (p.Leu1530=)
c.2278C= (p.Leu760=)
n.6977C=
18g.23905615C>GCA402051479LAMA3c.1882C>G (p.Leu628Val)
c.6709C>G (p.Leu2237Val)
c.3601C>G (p.Leu1201Val)
c.6541C>G (p.Leu2181Val)
c.1487C>G
c.1714C>G (p.Leu572Val)
n.1287C>G
c.6736C>G (p.Leu2246Val)
c.6727C>G (p.Leu2243Val)
c.6718C>G (p.Leu2240Val)
c.6604C>G (p.Leu2202Val)
c.4588C>G (p.Leu1530Val)
c.2278C>G (p.Leu760Val)
n.6977C>G
 dbSNP gnomAD v3 gnomAD v4
18g.23905615C>TCA503336649LAMA3c.1882C>T (p.Leu628=)
c.6709C>T (p.Leu2237=)
c.3601C>T (p.Leu1201=)
c.6541C>T (p.Leu2181=)
c.1487C>T
c.1714C>T (p.Leu572=)
n.1287C>T
c.6736C>T (p.Leu2246=)
c.6727C>T (p.Leu2243=)
c.6718C>T (p.Leu2240=)
c.6604C>T (p.Leu2202=)
c.4588C>T (p.Leu1530=)
c.2278C>T (p.Leu760=)
n.6977C>T
18g.23905616T>ACA402051480LAMA3c.1883T>A (p.Leu628Gln)
c.6710T>A (p.Leu2237Gln)
c.3602T>A (p.Leu1201Gln)
c.6542T>A (p.Leu2181Gln)
c.1488T>A
c.1715T>A (p.Leu572Gln)
n.1288T>A
c.6737T>A (p.Leu2246Gln)
c.6728T>A (p.Leu2243Gln)
c.6719T>A (p.Leu2240Gln)
c.6605T>A (p.Leu2202Gln)
c.4589T>A (p.Leu1530Gln)
c.2279T>A (p.Leu760Gln)
n.6978T>A
18g.23905616T>CCA8916461LAMA3c.1883T>C (p.Leu628Pro)
c.6710T>C (p.Leu2237Pro)
c.3602T>C (p.Leu1201Pro)
c.6542T>C (p.Leu2181Pro)
c.1488T>C
c.1715T>C (p.Leu572Pro)
n.1288T>C
c.6737T>C (p.Leu2246Pro)
c.6728T>C (p.Leu2243Pro)
c.6719T>C (p.Leu2240Pro)
c.6605T>C (p.Leu2202Pro)
c.4589T>C (p.Leu1530Pro)
c.2279T>C (p.Leu760Pro)
n.6978T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23905616T>GCA402051481LAMA3c.1883T>G (p.Leu628Arg)
c.6710T>G (p.Leu2237Arg)
c.3602T>G (p.Leu1201Arg)
c.6542T>G (p.Leu2181Arg)
c.1488T>G
c.1715T>G (p.Leu572Arg)
n.1288T>G
c.6737T>G (p.Leu2246Arg)
c.6728T>G (p.Leu2243Arg)
c.6719T>G (p.Leu2240Arg)
c.6605T>G (p.Leu2202Arg)
c.4589T>G (p.Leu1530Arg)
c.2279T>G (p.Leu760Arg)
n.6978T>G
18g.23905616T=CA2290325072LAMA3c.1883T= (p.Leu628=)
c.6710T= (p.Leu2237=)
c.3602T= (p.Leu1201=)
c.6542T= (p.Leu2181=)
c.1488T=
c.1715T= (p.Leu572=)
n.1288T=
c.6737T= (p.Leu2246=)
c.6728T= (p.Leu2243=)
c.6719T= (p.Leu2240=)
c.6605T= (p.Leu2202=)
c.4589T= (p.Leu1530=)
c.2279T= (p.Leu760=)
n.6978T=
18g.23905617A>CCA503336652LAMA3c.1884A>C (p.Leu628=)
c.6711A>C (p.Leu2237=)
c.3603A>C (p.Leu1201=)
c.6543A>C (p.Leu2181=)
c.1489A>C
c.1716A>C (p.Leu572=)
n.1289A>C
c.6738A>C (p.Leu2246=)
c.6729A>C (p.Leu2243=)
c.6720A>C (p.Leu2240=)
c.6606A>C (p.Leu2202=)
c.4590A>C (p.Leu1530=)
c.2280A>C (p.Leu760=)
n.6979A>C
18g.23905617A>GCA503336653LAMA3c.1884A>G (p.Leu628=)
c.6711A>G (p.Leu2237=)
c.3603A>G (p.Leu1201=)
c.6543A>G (p.Leu2181=)
c.1489A>G
c.1716A>G (p.Leu572=)
n.1289A>G
c.6738A>G (p.Leu2246=)
c.6729A>G (p.Leu2243=)
c.6720A>G (p.Leu2240=)
c.6606A>G (p.Leu2202=)
c.4590A>G (p.Leu1530=)
c.2280A>G (p.Leu760=)
n.6979A>G
18g.23905617A>TCA503336654LAMA3c.1884A>T (p.Leu628=)
c.6711A>T (p.Leu2237=)
c.3603A>T (p.Leu1201=)
c.6543A>T (p.Leu2181=)
c.1489A>T
c.1716A>T (p.Leu572=)
n.1289A>T
c.6738A>T (p.Leu2246=)
c.6729A>T (p.Leu2243=)
c.6720A>T (p.Leu2240=)
c.6606A>T (p.Leu2202=)
c.4590A>T (p.Leu1530=)
c.2280A>T (p.Leu760=)
n.6979A>T
18g.23905617_23905653delCA2641294865LAMA3c.1884_1891+29del
c.6711_6718+29del
c.3603_3610+29del
c.6543_6550+29del
c.1489_1496+29del
c.1716_1723+29del
n.1289_1296+29del
c.6738_6745+29del
c.6729_6736+29del
c.6720_6727+29del
c.6606_6613+29del
c.4590_4597+29del
c.2280_2287+29del
n.6979_6986+29del
 gnomAD v4
18g.23905618A=CA2290325073LAMA3c.1885A= (p.Lys629=)
c.6712A= (p.Lys2238=)
c.3604A= (p.Lys1202=)
c.6544A= (p.Lys2182=)
c.1490A=
c.1717A= (p.Lys573=)
n.1290A=
c.6739A= (p.Lys2247=)
c.6730A= (p.Lys2244=)
c.6721A= (p.Lys2241=)
c.6607A= (p.Lys2203=)
c.4591A= (p.Lys1531=)
c.2281A= (p.Lys761=)
n.6980A=
18g.23905618A>CCA402051483LAMA3c.1885A>C (p.Lys629Gln)
c.6712A>C (p.Lys2238Gln)
c.3604A>C (p.Lys1202Gln)
c.6544A>C (p.Lys2182Gln)
c.1490A>C
c.1717A>C (p.Lys573Gln)
n.1290A>C
c.6739A>C (p.Lys2247Gln)
c.6730A>C (p.Lys2244Gln)
c.6721A>C (p.Lys2241Gln)
c.6607A>C (p.Lys2203Gln)
c.4591A>C (p.Lys1531Gln)
c.2281A>C (p.Lys761Gln)
n.6980A>C
 gnomAD v4
18g.23905618A>GCA8916462LAMA3c.1885A>G (p.Lys629Glu)
c.6712A>G (p.Lys2238Glu)
c.3604A>G (p.Lys1202Glu)
c.6544A>G (p.Lys2182Glu)
c.1490A>G
c.1717A>G (p.Lys573Glu)
n.1290A>G
c.6739A>G (p.Lys2247Glu)
c.6730A>G (p.Lys2244Glu)
c.6721A>G (p.Lys2241Glu)
c.6607A>G (p.Lys2203Glu)
c.4591A>G (p.Lys1531Glu)
c.2281A>G (p.Lys761Glu)
n.6980A>G
 dbSNP ExAC gnomAD v2
18g.23905618A>TCA402051482LAMA3c.1885A>T (p.Lys629Ter)
c.6712A>T (p.Lys2238Ter)
c.3604A>T (p.Lys1202Ter)
c.6544A>T (p.Lys2182Ter)
c.1490A>T
c.1717A>T (p.Lys573Ter)
n.1290A>T
c.6739A>T (p.Lys2247Ter)
c.6730A>T (p.Lys2244Ter)
c.6721A>T (p.Lys2241Ter)
c.6607A>T (p.Lys2203Ter)
c.4591A>T (p.Lys1531Ter)
c.2281A>T (p.Lys761Ter)
n.6980A>T
18g.23905619A>CCA402051484LAMA3c.1886A>C (p.Lys629Thr)
c.6713A>C (p.Lys2238Thr)
c.3605A>C (p.Lys1202Thr)
c.6545A>C (p.Lys2182Thr)
c.1491A>C
c.1718A>C (p.Lys573Thr)
n.1291A>C
c.6740A>C (p.Lys2247Thr)
c.6731A>C (p.Lys2244Thr)
c.6722A>C (p.Lys2241Thr)
c.6608A>C (p.Lys2203Thr)
c.4592A>C (p.Lys1531Thr)
c.2282A>C (p.Lys761Thr)
n.6981A>C
 gnomAD v4
18g.23905619A>GCA402051485LAMA3c.1886A>G (p.Lys629Arg)
c.6713A>G (p.Lys2238Arg)
c.3605A>G (p.Lys1202Arg)
c.6545A>G (p.Lys2182Arg)
c.1491A>G
c.1718A>G (p.Lys573Arg)
n.1291A>G
c.6740A>G (p.Lys2247Arg)
c.6731A>G (p.Lys2244Arg)
c.6722A>G (p.Lys2241Arg)
c.6608A>G (p.Lys2203Arg)
c.4592A>G (p.Lys1531Arg)
c.2282A>G (p.Lys761Arg)
n.6981A>G
 gnomAD v4
18g.23905619A>TCA402051486LAMA3c.1886A>T (p.Lys629Met)
c.6713A>T (p.Lys2238Met)
c.3605A>T (p.Lys1202Met)
c.6545A>T (p.Lys2182Met)
c.1491A>T
c.1718A>T (p.Lys573Met)
n.1291A>T
c.6740A>T (p.Lys2247Met)
c.6731A>T (p.Lys2244Met)
c.6722A>T (p.Lys2241Met)
c.6608A>T (p.Lys2203Met)
c.4592A>T (p.Lys1531Met)
c.2282A>T (p.Lys761Met)
n.6981A>T
18g.23905620G>ACA503336658LAMA3c.1887G>A (p.Lys629=)
c.6714G>A (p.Lys2238=)
c.3606G>A (p.Lys1202=)
c.6546G>A (p.Lys2182=)
c.1492G>A
c.1719G>A (p.Lys573=)
n.1292G>A
c.6741G>A (p.Lys2247=)
c.6732G>A (p.Lys2244=)
c.6723G>A (p.Lys2241=)
c.6609G>A (p.Lys2203=)
c.4593G>A (p.Lys1531=)
c.2283G>A (p.Lys761=)
n.6982G>A
 gnomAD v4
18g.23905620G>CCA402051487LAMA3c.1887G>C (p.Lys629Asn)
c.6714G>C (p.Lys2238Asn)
c.3606G>C (p.Lys1202Asn)
c.6546G>C (p.Lys2182Asn)
c.1492G>C
c.1719G>C (p.Lys573Asn)
n.1292G>C
c.6741G>C (p.Lys2247Asn)
c.6732G>C (p.Lys2244Asn)
c.6723G>C (p.Lys2241Asn)
c.6609G>C (p.Lys2203Asn)
c.4593G>C (p.Lys1531Asn)
c.2283G>C (p.Lys761Asn)
n.6982G>C
18g.23905620G>TCA402051488LAMA3c.1887G>T (p.Lys629Asn)
c.6714G>T (p.Lys2238Asn)
c.3606G>T (p.Lys1202Asn)
c.6546G>T (p.Lys2182Asn)
c.1492G>T
c.1719G>T (p.Lys573Asn)
n.1292G>T
c.6741G>T (p.Lys2247Asn)
c.6732G>T (p.Lys2244Asn)
c.6723G>T (p.Lys2241Asn)
c.6609G>T (p.Lys2203Asn)
c.4593G>T (p.Lys1531Asn)
c.2283G>T (p.Lys761Asn)
n.6982G>T
18g.23905621C>ACA402051489LAMA3c.1888C>A (p.Gln630Lys)
c.6715C>A (p.Gln2239Lys)
c.3607C>A (p.Gln1203Lys)
c.6547C>A (p.Gln2183Lys)
c.1493C>A
c.1720C>A (p.Gln574Lys)
n.1293C>A
c.6742C>A (p.Gln2248Lys)
c.6733C>A (p.Gln2245Lys)
c.6724C>A (p.Gln2242Lys)
c.6610C>A (p.Gln2204Lys)
c.4594C>A (p.Gln1532Lys)
c.2284C>A (p.Gln762Lys)
n.6983C>A
18g.23905621C>GCA402051490LAMA3c.1888C>G (p.Gln630Glu)
c.6715C>G (p.Gln2239Glu)
c.3607C>G (p.Gln1203Glu)
c.6547C>G (p.Gln2183Glu)
c.1493C>G
c.1720C>G (p.Gln574Glu)
n.1293C>G
c.6742C>G (p.Gln2248Glu)
c.6733C>G (p.Gln2245Glu)
c.6724C>G (p.Gln2242Glu)
c.6610C>G (p.Gln2204Glu)
c.4594C>G (p.Gln1532Glu)
c.2284C>G (p.Gln762Glu)
n.6983C>G
18g.23905621C>TCA402051491LAMA3c.1888C>T (p.Gln630Ter)
c.6715C>T (p.Gln2239Ter)
c.3607C>T (p.Gln1203Ter)
c.6547C>T (p.Gln2183Ter)
c.1493C>T
c.1720C>T (p.Gln574Ter)
n.1293C>T
c.6742C>T (p.Gln2248Ter)
c.6733C>T (p.Gln2245Ter)
c.6724C>T (p.Gln2242Ter)
c.6610C>T (p.Gln2204Ter)
c.4594C>T (p.Gln1532Ter)
c.2284C>T (p.Gln762Ter)
n.6983C>T
18g.23905622A>CCA402051492LAMA3c.1889A>C (p.Gln630Pro)
c.6716A>C (p.Gln2239Pro)
c.3608A>C (p.Gln1203Pro)
c.6548A>C (p.Gln2183Pro)
c.1494A>C
c.1721A>C (p.Gln574Pro)
n.1294A>C
c.6743A>C (p.Gln2248Pro)
c.6734A>C (p.Gln2245Pro)
c.6725A>C (p.Gln2242Pro)
c.6611A>C (p.Gln2204Pro)
c.4595A>C (p.Gln1532Pro)
c.2285A>C (p.Gln762Pro)
n.6984A>C
18g.23905622A>GCA402051493LAMA3c.1889A>G (p.Gln630Arg)
c.6716A>G (p.Gln2239Arg)
c.3608A>G (p.Gln1203Arg)
c.6548A>G (p.Gln2183Arg)
c.1494A>G
c.1721A>G (p.Gln574Arg)
n.1294A>G
c.6743A>G (p.Gln2248Arg)
c.6734A>G (p.Gln2245Arg)
c.6725A>G (p.Gln2242Arg)
c.6611A>G (p.Gln2204Arg)
c.4595A>G (p.Gln1532Arg)
c.2285A>G (p.Gln762Arg)
n.6984A>G
18g.23905622A>TCA402051494LAMA3c.1889A>T (p.Gln630Leu)
c.6716A>T (p.Gln2239Leu)
c.3608A>T (p.Gln1203Leu)
c.6548A>T (p.Gln2183Leu)
c.1494A>T
c.1721A>T (p.Gln574Leu)
n.1294A>T
c.6743A>T (p.Gln2248Leu)
c.6734A>T (p.Gln2245Leu)
c.6725A>T (p.Gln2242Leu)
c.6611A>T (p.Gln2204Leu)
c.4595A>T (p.Gln1532Leu)
c.2285A>T (p.Gln762Leu)
n.6984A>T
18g.23905623A>CCA402051495LAMA3c.1890A>C (p.Gln630His)
c.6717A>C (p.Gln2239His)
c.3609A>C (p.Gln1203His)
c.6549A>C (p.Gln2183His)
c.1495A>C
c.1722A>C (p.Gln574His)
n.1295A>C
c.6744A>C (p.Gln2248His)
c.6735A>C (p.Gln2245His)
c.6726A>C (p.Gln2242His)
c.6612A>C (p.Gln2204His)
c.4596A>C (p.Gln1532His)
c.2286A>C (p.Gln762His)
n.6985A>C
18g.23905623A>GCA503336662LAMA3c.1890A>G (p.Gln630=)
c.6717A>G (p.Gln2239=)
c.3609A>G (p.Gln1203=)
c.6549A>G (p.Gln2183=)
c.1495A>G
c.1722A>G (p.Gln574=)
n.1295A>G
c.6744A>G (p.Gln2248=)
c.6735A>G (p.Gln2245=)
c.6726A>G (p.Gln2242=)
c.6612A>G (p.Gln2204=)
c.4596A>G (p.Gln1532=)
c.2286A>G (p.Gln762=)
n.6985A>G
18g.23905623A>TCA402051496LAMA3c.1890A>T (p.Gln630His)
c.6717A>T (p.Gln2239His)
c.3609A>T (p.Gln1203His)
c.6549A>T (p.Gln2183His)
c.1495A>T
c.1722A>T (p.Gln574His)
n.1295A>T
c.6744A>T (p.Gln2248His)
c.6735A>T (p.Gln2245His)
c.6726A>T (p.Gln2242His)
c.6612A>T (p.Gln2204His)
c.4596A>T (p.Gln1532His)
c.2286A>T (p.Gln762His)
n.6985A>T
18g.23905624G>ACA402051498LAMA3c.1891G>A (p.Glu631Lys)
c.6718G>A (p.Glu2240Lys)
c.3610G>A (p.Val1204Met)
c.6550G>A (p.Glu2184Lys)
c.1496G>A
c.1723G>A (p.Glu575Lys)
n.1296G>A
c.6745G>A (p.Glu2249Lys)
c.6736G>A (p.Glu2246Lys)
c.6727G>A (p.Glu2243Lys)
c.6613G>A (p.Glu2205Lys)
c.6745G>A (p.Val2249Met)
c.4597G>A (p.Glu1533Lys)
c.2287G>A (p.Glu763Lys)
n.6986G>A
 dbSNP gnomAD v4
18g.23905624G>CCA402051499LAMA3c.1891G>C (p.Glu631Gln)
c.6718G>C (p.Glu2240Gln)
c.3610G>C (p.Val1204Leu)
c.6550G>C (p.Glu2184Gln)
c.1496G>C
c.1723G>C (p.Glu575Gln)
n.1296G>C
c.6745G>C (p.Glu2249Gln)
c.6736G>C (p.Glu2246Gln)
c.6727G>C (p.Glu2243Gln)
c.6613G>C (p.Glu2205Gln)
c.6745G>C (p.Val2249Leu)
c.4597G>C (p.Glu1533Gln)
c.2287G>C (p.Glu763Gln)
n.6986G>C
18g.23905624G=CA2290325074LAMA3c.1891G= (p.Glu631=)
c.6718G= (p.Glu2240=)
c.3610G= (p.Val1204=)
c.6550G= (p.Glu2184=)
c.1496G=
c.1723G= (p.Glu575=)
n.1296G=
c.6745G= (p.Glu2249=)
c.6736G= (p.Glu2246=)
c.6727G= (p.Glu2243=)
c.6613G= (p.Glu2205=)
c.6745G= (p.Val2249=)
c.4597G= (p.Glu1533=)
c.2287G= (p.Glu763=)
n.6986G=
18g.23905624G>TCA402051497LAMA3c.1891G>T (p.Glu631Ter)
c.6718G>T (p.Glu2240Ter)
c.3610G>T (p.Val1204Leu)
c.6550G>T (p.Glu2184Ter)
c.1496G>T
c.1723G>T (p.Glu575Ter)
n.1296G>T
c.6745G>T (p.Glu2249Ter)
c.6736G>T (p.Glu2246Ter)
c.6727G>T (p.Glu2243Ter)
c.6613G>T (p.Glu2205Ter)
c.6745G>T (p.Val2249Leu)
c.4597G>T (p.Glu1533Ter)
c.2287G>T (p.Glu763Ter)
n.6986G>T
 COSMIC COSMIC
18g.23905625G>ACA402051502LAMA3c.1891+1G>A (n.1891+1G>A)
c.6718+1G>A (n.6718+1G>A)
c.3610+1G>A (n.3610+1G>A)
c.6550+1G>A (n.6550+1G>A)
c.1496+1G>A
c.1723+1G>A (n.1723+1G>A)
n.1296+1G>A
c.6745+1G>A (n.6745+1G>A)
c.6736+1G>A (n.6736+1G>A)
c.6727+1G>A (n.6727+1G>A)
c.6613+1G>A (n.6613+1G>A)
c.4597+1G>A (n.4597+1G>A)
c.2287+1G>A (n.2287+1G>A)
n.6986+1G>A
 dbSNP gnomAD v3 gnomAD v4
18g.23905625G>CCA402051500LAMA3c.1891+1G>C (n.1891+1G>C)
c.6718+1G>C (n.6718+1G>C)
c.3610+1G>C (n.3610+1G>C)
c.6550+1G>C (n.6550+1G>C)
c.1496+1G>C
c.1723+1G>C (n.1723+1G>C)
n.1296+1G>C
c.6745+1G>C (n.6745+1G>C)
c.6736+1G>C (n.6736+1G>C)
c.6727+1G>C (n.6727+1G>C)
c.6613+1G>C (n.6613+1G>C)
c.4597+1G>C (n.4597+1G>C)
c.2287+1G>C (n.2287+1G>C)
n.6986+1G>C
18g.23905625G=CA2290325075LAMA3c.1891+1G= (n.1891+1G=)
c.6718+1G= (n.6718+1G=)
c.3610+1G= (n.3610+1G=)
c.6550+1G= (n.6550+1G=)
c.1496+1G=
c.1723+1G= (n.1723+1G=)
n.1296+1G=
c.6745+1G= (n.6745+1G=)
c.6736+1G= (n.6736+1G=)
c.6727+1G= (n.6727+1G=)
c.6613+1G= (n.6613+1G=)
c.4597+1G= (n.4597+1G=)
c.2287+1G= (n.2287+1G=)
n.6986+1G=
18g.23905625G>TCA402051501LAMA3c.1891+1G>T (n.1891+1G>T)
c.6718+1G>T (n.6718+1G>T)
c.3610+1G>T (n.3610+1G>T)
c.6550+1G>T (n.6550+1G>T)
c.1496+1G>T
c.1723+1G>T (n.1723+1G>T)
n.1296+1G>T
c.6745+1G>T (n.6745+1G>T)
c.6736+1G>T (n.6736+1G>T)
c.6727+1G>T (n.6727+1G>T)
c.6613+1G>T (n.6613+1G>T)
c.4597+1G>T (n.4597+1G>T)
c.2287+1G>T (n.2287+1G>T)
n.6986+1G>T
18g.23905626T>ACA402051503LAMA3c.1891+2T>A (n.1891+2T>A)
c.6718+2T>A (n.6718+2T>A)
c.3610+2T>A (n.3610+2T>A)
c.6550+2T>A (n.6550+2T>A)
c.1496+2T>A
c.1723+2T>A (n.1723+2T>A)
n.1296+2T>A
c.6745+2T>A (n.6745+2T>A)
c.6736+2T>A (n.6736+2T>A)
c.6727+2T>A (n.6727+2T>A)
c.6613+2T>A (n.6613+2T>A)
c.4597+2T>A (n.4597+2T>A)
c.2287+2T>A (n.2287+2T>A)
n.6986+2T>A
18g.23905626T>CCA402051504LAMA3c.1891+2T>C (n.1891+2T>C)
c.6718+2T>C (n.6718+2T>C)
c.3610+2T>C (n.3610+2T>C)
c.6550+2T>C (n.6550+2T>C)
c.1496+2T>C
c.1723+2T>C (n.1723+2T>C)
n.1296+2T>C
c.6745+2T>C (n.6745+2T>C)
c.6736+2T>C (n.6736+2T>C)
c.6727+2T>C (n.6727+2T>C)
c.6613+2T>C (n.6613+2T>C)
c.4597+2T>C (n.4597+2T>C)
c.2287+2T>C (n.2287+2T>C)
n.6986+2T>C
18g.23905626T>GCA402051505LAMA3c.1891+2T>G (n.1891+2T>G)
c.6718+2T>G (n.6718+2T>G)
c.3610+2T>G (n.3610+2T>G)
c.6550+2T>G (n.6550+2T>G)
c.1496+2T>G
c.1723+2T>G (n.1723+2T>G)
n.1296+2T>G
c.6745+2T>G (n.6745+2T>G)
c.6736+2T>G (n.6736+2T>G)
c.6727+2T>G (n.6727+2T>G)
c.6613+2T>G (n.6613+2T>G)
c.4597+2T>G (n.4597+2T>G)
c.2287+2T>G (n.2287+2T>G)
n.6986+2T>G
18g.23905627A=CA2290325076LAMA3c.1891+3A= (n.1891+3A=)
c.6718+3A= (n.6718+3A=)
c.3610+3A= (n.3610+3A=)
c.6550+3A= (n.6550+3A=)
c.1496+3A=
c.1723+3A= (n.1723+3A=)
n.1296+3A=
c.6745+3A= (n.6745+3A=)
c.6736+3A= (n.6736+3A=)
c.6727+3A= (n.6727+3A=)
c.6613+3A= (n.6613+3A=)
c.4597+3A= (n.4597+3A=)
c.2287+3A= (n.2287+3A=)
n.6986+3A=
18g.23905627A>GCA628685029LAMA3c.1891+3A>G (n.1891+3A>G)
c.6718+3A>G (n.6718+3A>G)
c.3610+3A>G (n.3610+3A>G)
c.6550+3A>G (n.6550+3A>G)
c.1496+3A>G
c.1723+3A>G (n.1723+3A>G)
n.1296+3A>G
c.6745+3A>G (n.6745+3A>G)
c.6736+3A>G (n.6736+3A>G)
c.6727+3A>G (n.6727+3A>G)
c.6613+3A>G (n.6613+3A>G)
c.4597+3A>G (n.4597+3A>G)
c.2287+3A>G (n.2287+3A>G)
n.6986+3A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23905628T>CCA2734655716LAMA3c.1891+4T>C (n.1891+4T>C)
c.6718+4T>C (n.6718+4T>C)
c.3610+4T>C (n.3610+4T>C)
c.6550+4T>C (n.6550+4T>C)
c.1496+4T>C
c.1723+4T>C (n.1723+4T>C)
n.1296+4T>C
c.6745+4T>C (n.6745+4T>C)
c.6736+4T>C (n.6736+4T>C)
c.6727+4T>C (n.6727+4T>C)
c.6613+4T>C (n.6613+4T>C)
c.4597+4T>C (n.4597+4T>C)
c.2287+4T>C (n.2287+4T>C)
n.6986+4T>C
 dbSNP
18g.23905629delCA2641294882LAMA3c.1891+5del (n.1891+5del)
c.6718+5del (n.6718+5del)
c.3610+5del (n.3610+5del)
c.6550+5del (n.6550+5del)
c.1496+5del
c.1723+5del (n.1723+5del)
n.1296+5del
c.6745+5del (n.6745+5del)
c.6736+5del (n.6736+5del)
c.6727+5del (n.6727+5del)
c.6613+5del (n.6613+5del)
c.4597+5del (n.4597+5del)
c.2287+5del (n.2287+5del)
n.6986+5del
 gnomAD v4
18g.23905629T>CCA297103356LAMA3c.1891+5T>C (n.1891+5T>C)
c.6718+5T>C (n.6718+5T>C)
c.3610+5T>C (n.3610+5T>C)
c.6550+5T>C (n.6550+5T>C)
c.1496+5T>C
c.1723+5T>C (n.1723+5T>C)
n.1296+5T>C
c.6745+5T>C (n.6745+5T>C)
c.6736+5T>C (n.6736+5T>C)
c.6727+5T>C (n.6727+5T>C)
c.6613+5T>C (n.6613+5T>C)
c.4597+5T>C (n.4597+5T>C)
c.2287+5T>C (n.2287+5T>C)
n.6986+5T>C
 dbSNP gnomAD v2 gnomAD v4
18g.23905629T>GCA2641294884LAMA3c.1891+5T>G (n.1891+5T>G)
c.6718+5T>G (n.6718+5T>G)
c.3610+5T>G (n.3610+5T>G)
c.6550+5T>G (n.6550+5T>G)
c.1496+5T>G
c.1723+5T>G (n.1723+5T>G)
n.1296+5T>G
c.6745+5T>G (n.6745+5T>G)
c.6736+5T>G (n.6736+5T>G)
c.6727+5T>G (n.6727+5T>G)
c.6613+5T>G (n.6613+5T>G)
c.4597+5T>G (n.4597+5T>G)
c.2287+5T>G (n.2287+5T>G)
n.6986+5T>G
 gnomAD v4
18g.23905629T=CA2290325077LAMA3c.1891+5T= (n.1891+5T=)
c.6718+5T= (n.6718+5T=)
c.3610+5T= (n.3610+5T=)
c.6550+5T= (n.6550+5T=)
c.1496+5T=
c.1723+5T= (n.1723+5T=)
n.1296+5T=
c.6745+5T= (n.6745+5T=)
c.6736+5T= (n.6736+5T=)
c.6727+5T= (n.6727+5T=)
c.6613+5T= (n.6613+5T=)
c.4597+5T= (n.4597+5T=)
c.2287+5T= (n.2287+5T=)
n.6986+5T=
18g.23905629_23905630delinsTACA2290325078LAMA3c.1891+5_1891+6delinsTA (n.1891+5_1891+6delinsTA)
c.6718+5_6718+6delinsTA (n.6718+5_6718+6delinsTA)
c.3610+5_3610+6delinsTA (n.3610+5_3610+6delinsTA)
c.6550+5_6550+6delinsTA (n.6550+5_6550+6delinsTA)
c.1496+5_1496+6delinsTA
c.1723+5_1723+6delinsTA (n.1723+5_1723+6delinsTA)
n.1296+5_1296+6delinsTA
c.6745+5_6745+6delinsTA (n.6745+5_6745+6delinsTA)
c.6736+5_6736+6delinsTA (n.6736+5_6736+6delinsTA)
c.6727+5_6727+6delinsTA (n.6727+5_6727+6delinsTA)
c.6613+5_6613+6delinsTA (n.6613+5_6613+6delinsTA)
c.4597+5_4597+6delinsTA (n.4597+5_4597+6delinsTA)
c.2287+5_2287+6delinsTA (n.2287+5_2287+6delinsTA)
n.6986+5_6986+6delinsTA
18g.23905630delCA777754145LAMA3c.1891+6del (n.1891+6del)
c.6718+6del (n.6718+6del)
c.3610+6del (n.3610+6del)
c.6550+6del (n.6550+6del)
c.1496+6del
c.1723+6del (n.1723+6del)
n.1296+6del
c.6745+6del (n.6745+6del)
c.6736+6del (n.6736+6del)
c.6727+6del (n.6727+6del)
c.6613+6del (n.6613+6del)
c.4597+6del (n.4597+6del)
c.2287+6del (n.2287+6del)
n.6986+6del
 dbSNP gnomAD v4
18g.23905630A>GCA2641294885LAMA3c.1891+6A>G (n.1891+6A>G)
c.6718+6A>G (n.6718+6A>G)
c.3610+6A>G (n.3610+6A>G)
c.6550+6A>G (n.6550+6A>G)
c.1496+6A>G
c.1723+6A>G (n.1723+6A>G)
n.1296+6A>G
c.6745+6A>G (n.6745+6A>G)
c.6736+6A>G (n.6736+6A>G)
c.6727+6A>G (n.6727+6A>G)
c.6613+6A>G (n.6613+6A>G)
c.4597+6A>G (n.4597+6A>G)
c.2287+6A>G (n.2287+6A>G)
n.6986+6A>G
 gnomAD v4
18g.23905631G>ACA2641294888LAMA3c.1891+7G>A (n.1891+7G>A)
c.6718+7G>A (n.6718+7G>A)
c.3610+7G>A (n.3610+7G>A)
c.6550+7G>A (n.6550+7G>A)
c.1496+7G>A
c.1723+7G>A (n.1723+7G>A)
n.1296+7G>A
c.6745+7G>A (n.6745+7G>A)
c.6736+7G>A (n.6736+7G>A)
c.6727+7G>A (n.6727+7G>A)
c.6613+7G>A (n.6613+7G>A)
c.4597+7G>A (n.4597+7G>A)
c.2287+7G>A (n.2287+7G>A)
n.6986+7G>A
 gnomAD v4
18g.23905631G>TCA2641294889LAMA3c.1891+7G>T (n.1891+7G>T)
c.6718+7G>T (n.6718+7G>T)
c.3610+7G>T (n.3610+7G>T)
c.6550+7G>T (n.6550+7G>T)
c.1496+7G>T
c.1723+7G>T (n.1723+7G>T)
n.1296+7G>T
c.6745+7G>T (n.6745+7G>T)
c.6736+7G>T (n.6736+7G>T)
c.6727+7G>T (n.6727+7G>T)
c.6613+7G>T (n.6613+7G>T)
c.4597+7G>T (n.4597+7G>T)
c.2287+7G>T (n.2287+7G>T)
n.6986+7G>T
 gnomAD v4
18g.23905635dupCA2641294886LAMA3c.1891+11dup (n.1891+11dup)
c.6718+11dup (n.6718+11dup)
c.3610+11dup (n.3610+11dup)
c.6550+11dup (n.6550+11dup)
c.1496+11dup
c.1723+11dup (n.1723+11dup)
n.1296+11dup
c.6745+11dup (n.6745+11dup)
c.6736+11dup (n.6736+11dup)
c.6727+11dup (n.6727+11dup)
c.6613+11dup (n.6613+11dup)
c.4597+11dup (n.4597+11dup)
c.2287+11dup (n.2287+11dup)
n.6986+11dup
 gnomAD v4
18g.23905635delCA2641294887LAMA3c.1891+11del (n.1891+11del)
c.6718+11del (n.6718+11del)
c.3610+11del (n.3610+11del)
c.6550+11del (n.6550+11del)
c.1496+11del
c.1723+11del (n.1723+11del)
n.1296+11del
c.6745+11del (n.6745+11del)
c.6736+11del (n.6736+11del)
c.6727+11del (n.6727+11del)
c.6613+11del (n.6613+11del)
c.4597+11del (n.4597+11del)
c.2287+11del (n.2287+11del)
n.6986+11del
 gnomAD v4
18g.23905632G>ACA2641294890LAMA3c.1891+8G>A (n.1891+8G>A)
c.6718+8G>A (n.6718+8G>A)
c.3610+8G>A (n.3610+8G>A)
c.6550+8G>A (n.6550+8G>A)
c.1496+8G>A
c.1723+8G>A (n.1723+8G>A)
n.1296+8G>A
c.6745+8G>A (n.6745+8G>A)
c.6736+8G>A (n.6736+8G>A)
c.6727+8G>A (n.6727+8G>A)
c.6613+8G>A (n.6613+8G>A)
c.4597+8G>A (n.4597+8G>A)
c.2287+8G>A (n.2287+8G>A)
n.6986+8G>A
 gnomAD v4
18g.23905632G>CCA777754154LAMA3c.1891+8G>C (n.1891+8G>C)
c.6718+8G>C (n.6718+8G>C)
c.3610+8G>C (n.3610+8G>C)
c.6550+8G>C (n.6550+8G>C)
c.1496+8G>C
c.1723+8G>C (n.1723+8G>C)
n.1296+8G>C
c.6745+8G>C (n.6745+8G>C)
c.6736+8G>C (n.6736+8G>C)
c.6727+8G>C (n.6727+8G>C)
c.6613+8G>C (n.6613+8G>C)
c.4597+8G>C (n.4597+8G>C)
c.2287+8G>C (n.2287+8G>C)
n.6986+8G>C
 ClinVar dbSNP gnomAD v4
18g.23905632G=CA2290325079LAMA3c.1891+8G= (n.1891+8G=)
c.6718+8G= (n.6718+8G=)
c.3610+8G= (n.3610+8G=)
c.6550+8G= (n.6550+8G=)
c.1496+8G=
c.1723+8G= (n.1723+8G=)
n.1296+8G=
c.6745+8G= (n.6745+8G=)
c.6736+8G= (n.6736+8G=)
c.6727+8G= (n.6727+8G=)
c.6613+8G= (n.6613+8G=)
c.4597+8G= (n.4597+8G=)
c.2287+8G= (n.2287+8G=)
n.6986+8G=
18g.23905632G>TCA8916463LAMA3c.1891+8G>T (n.1891+8G>T)
c.6718+8G>T (n.6718+8G>T)
c.3610+8G>T (n.3610+8G>T)
c.6550+8G>T (n.6550+8G>T)
c.1496+8G>T
c.1723+8G>T (n.1723+8G>T)
n.1296+8G>T
c.6745+8G>T (n.6745+8G>T)
c.6736+8G>T (n.6736+8G>T)
c.6727+8G>T (n.6727+8G>T)
c.6613+8G>T (n.6613+8G>T)
c.4597+8G>T (n.4597+8G>T)
c.2287+8G>T (n.2287+8G>T)
n.6986+8G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23905633G>TCA2641294892LAMA3c.1891+9G>T (n.1891+9G>T)
c.6718+9G>T (n.6718+9G>T)
c.3610+9G>T (n.3610+9G>T)
c.6550+9G>T (n.6550+9G>T)
c.1496+9G>T
c.1723+9G>T (n.1723+9G>T)
n.1296+9G>T
c.6745+9G>T (n.6745+9G>T)
c.6736+9G>T (n.6736+9G>T)
c.6727+9G>T (n.6727+9G>T)
c.6613+9G>T (n.6613+9G>T)
c.4597+9G>T (n.4597+9G>T)
c.2287+9G>T (n.2287+9G>T)
n.6986+9G>T
 gnomAD v4
18g.23905634G>ACA2641294893LAMA3c.1891+10G>A (n.1891+10G>A)
c.6718+10G>A (n.6718+10G>A)
c.3610+10G>A (n.3610+10G>A)
c.6550+10G>A (n.6550+10G>A)
c.1496+10G>A
c.1723+10G>A (n.1723+10G>A)
n.1296+10G>A
c.6745+10G>A (n.6745+10G>A)
c.6736+10G>A (n.6736+10G>A)
c.6727+10G>A (n.6727+10G>A)
c.6613+10G>A (n.6613+10G>A)
c.4597+10G>A (n.4597+10G>A)
c.2287+10G>A (n.2287+10G>A)
n.6986+10G>A
 gnomAD v4
18g.23905635G>ACA2523742141LAMA3c.1891+11G>A (n.1891+11G>A)
c.6718+11G>A (n.6718+11G>A)
c.3610+11G>A (n.3610+11G>A)
c.6550+11G>A (n.6550+11G>A)
c.1496+11G>A
c.1723+11G>A (n.1723+11G>A)
n.1296+11G>A
c.6745+11G>A (n.6745+11G>A)
c.6736+11G>A (n.6736+11G>A)
c.6727+11G>A (n.6727+11G>A)
c.6613+11G>A (n.6613+11G>A)
c.4597+11G>A (n.4597+11G>A)
c.2287+11G>A (n.2287+11G>A)
n.6986+11G>A
18g.23905635G>CCA777754157LAMA3c.1891+11G>C (n.1891+11G>C)
c.6718+11G>C (n.6718+11G>C)
c.3610+11G>C (n.3610+11G>C)
c.6550+11G>C (n.6550+11G>C)
c.1496+11G>C
c.1723+11G>C (n.1723+11G>C)
n.1296+11G>C
c.6745+11G>C (n.6745+11G>C)
c.6736+11G>C (n.6736+11G>C)
c.6727+11G>C (n.6727+11G>C)
c.6613+11G>C (n.6613+11G>C)
c.4597+11G>C (n.4597+11G>C)
c.2287+11G>C (n.2287+11G>C)
n.6986+11G>C
 dbSNP gnomAD v3 gnomAD v4
18g.23905635G=CA2290325080LAMA3c.1891+11G= (n.1891+11G=)
c.6718+11G= (n.6718+11G=)
c.3610+11G= (n.3610+11G=)
c.6550+11G= (n.6550+11G=)
c.1496+11G=
c.1723+11G= (n.1723+11G=)
n.1296+11G=
c.6745+11G= (n.6745+11G=)
c.6736+11G= (n.6736+11G=)
c.6727+11G= (n.6727+11G=)
c.6613+11G= (n.6613+11G=)
c.4597+11G= (n.4597+11G=)
c.2287+11G= (n.2287+11G=)
n.6986+11G=
18g.23905636A=CA2290325081LAMA3c.1891+12A= (n.1891+12A=)
c.6718+12A= (n.6718+12A=)
c.3610+12A= (n.3610+12A=)
c.6550+12A= (n.6550+12A=)
c.1496+12A=
c.1723+12A= (n.1723+12A=)
n.1296+12A=
c.6745+12A= (n.6745+12A=)
c.6736+12A= (n.6736+12A=)
c.6727+12A= (n.6727+12A=)
c.6613+12A= (n.6613+12A=)
c.4597+12A= (n.4597+12A=)
c.2287+12A= (n.2287+12A=)
n.6986+12A=
18g.23905636A>CCA8916464LAMA3c.1891+12A>C (n.1891+12A>C)
c.6718+12A>C (n.6718+12A>C)
c.3610+12A>C (n.3610+12A>C)
c.6550+12A>C (n.6550+12A>C)
c.1496+12A>C
c.1723+12A>C (n.1723+12A>C)
n.1296+12A>C
c.6745+12A>C (n.6745+12A>C)
c.6736+12A>C (n.6736+12A>C)
c.6727+12A>C (n.6727+12A>C)
c.6613+12A>C (n.6613+12A>C)
c.4597+12A>C (n.4597+12A>C)
c.2287+12A>C (n.2287+12A>C)
n.6986+12A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23905636A>GCA2576472915LAMA3c.1891+12A>G (n.1891+12A>G)
c.6718+12A>G (n.6718+12A>G)
c.3610+12A>G (n.3610+12A>G)
c.6550+12A>G (n.6550+12A>G)
c.1496+12A>G
c.1723+12A>G (n.1723+12A>G)
n.1296+12A>G
c.6745+12A>G (n.6745+12A>G)
c.6736+12A>G (n.6736+12A>G)
c.6727+12A>G (n.6727+12A>G)
c.6613+12A>G (n.6613+12A>G)
c.4597+12A>G (n.4597+12A>G)
c.2287+12A>G (n.2287+12A>G)
n.6986+12A>G
 gnomAD v4
18g.23905637G>TCA2641294899LAMA3c.1891+13G>T (n.1891+13G>T)
c.6718+13G>T (n.6718+13G>T)
c.3610+13G>T (n.3610+13G>T)
c.6550+13G>T (n.6550+13G>T)
c.1496+13G>T
c.1723+13G>T (n.1723+13G>T)
n.1296+13G>T
c.6745+13G>T (n.6745+13G>T)
c.6736+13G>T (n.6736+13G>T)
c.6727+13G>T (n.6727+13G>T)
c.6613+13G>T (n.6613+13G>T)
c.4597+13G>T (n.4597+13G>T)
c.2287+13G>T (n.2287+13G>T)
n.6986+13G>T
 gnomAD v4

Number of alleles fetched