Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.23904582_23904583delinsTGCA2290324635LAMA3c.1676_1677delinsTG (p.Leu559=)
c.6503_6504delinsTG (p.Leu2168=)
c.3395_3396delinsTG (p.Leu1132=)
c.6335_6336delinsTG (p.Leu2112=)
c.1281_1282delinsTG
c.1508_1509delinsTG (p.Leu503=)
n.1081_1082delinsTG
c.6530_6531delinsTG (p.Leu2177=)
c.6521_6522delinsTG (p.Leu2174=)
c.6512_6513delinsTG (p.Leu2171=)
c.6398_6399delinsTG (p.Leu2133=)
c.4382_4383delinsTG (p.Leu1461=)
c.2072_2073delinsTG (p.Leu691=)
n.6771_6772delinsTG
18g.23904583G>ACA503336284LAMA3c.1677G>A (p.Leu559=)
c.6504G>A (p.Leu2168=)
c.3396G>A (p.Leu1132=)
c.6336G>A (p.Leu2112=)
c.1282G>A
c.1509G>A (p.Leu503=)
n.1082G>A
c.6531G>A (p.Leu2177=)
c.6522G>A (p.Leu2174=)
c.6513G>A (p.Leu2171=)
c.6399G>A (p.Leu2133=)
c.4383G>A (p.Leu1461=)
c.2073G>A (p.Leu691=)
n.6772G>A
COSMIC COSMIC
18g.23904583G>CCA503336294LAMA3c.1677G>C (p.Leu559=)
c.6504G>C (p.Leu2168=)
c.3396G>C (p.Leu1132=)
c.6336G>C (p.Leu2112=)
c.1282G>C
c.1509G>C (p.Leu503=)
n.1082G>C
c.6531G>C (p.Leu2177=)
c.6522G>C (p.Leu2174=)
c.6513G>C (p.Leu2171=)
c.6399G>C (p.Leu2133=)
c.4383G>C (p.Leu1461=)
c.2073G>C (p.Leu691=)
n.6772G>C
18g.23904583G>TCA503336287LAMA3c.1677G>T (p.Leu559=)
c.6504G>T (p.Leu2168=)
c.3396G>T (p.Leu1132=)
c.6336G>T (p.Leu2112=)
c.1282G>T
c.1509G>T (p.Leu503=)
n.1082G>T
c.6531G>T (p.Leu2177=)
c.6522G>T (p.Leu2174=)
c.6513G>T (p.Leu2171=)
c.6399G>T (p.Leu2133=)
c.4383G>T (p.Leu1461=)
c.2073G>T (p.Leu691=)
n.6772G>T
18g.23904584delCA16041936LAMA3c.1678del (p.Val560CysfsTer?)
c.6505del (p.Val2169CysfsTer?)
c.3397del (p.Val1133CysfsTer?)
c.6337del (p.Val2113CysfsTer?)
c.1283del
c.1510del (p.Val504CysfsTer?)
n.1083del
c.6532del (p.Val2178CysfsTer?)
c.6523del (p.Val2175CysfsTer?)
c.6514del (p.Val2172CysfsTer?)
c.6400del (p.Val2134CysfsTer?)
c.4384del (p.Val1462CysfsTer?)
c.2074del (p.Val692CysfsTer?)
n.6773del
ClinVar dbSNP gnomAD v4
18g.23904584G>ACA402050361LAMA3c.1678G>A (p.Val560Met)
c.6505G>A (p.Val2169Met)
c.3397G>A (p.Val1133Met)
c.6337G>A (p.Val2113Met)
c.1283G>A
c.1510G>A (p.Val504Met)
n.1083G>A
c.6532G>A (p.Val2178Met)
c.6523G>A (p.Val2175Met)
c.6514G>A (p.Val2172Met)
c.6400G>A (p.Val2134Met)
c.4384G>A (p.Val1462Met)
c.2074G>A (p.Val692Met)
n.6773G>A
dbSNP gnomAD v3 gnomAD v4
18g.23904584G>CCA402050362LAMA3c.1678G>C (p.Val560Leu)
c.6505G>C (p.Val2169Leu)
c.3397G>C (p.Val1133Leu)
c.6337G>C (p.Val2113Leu)
c.1283G>C
c.1510G>C (p.Val504Leu)
n.1083G>C
c.6532G>C (p.Val2178Leu)
c.6523G>C (p.Val2175Leu)
c.6514G>C (p.Val2172Leu)
c.6400G>C (p.Val2134Leu)
c.4384G>C (p.Val1462Leu)
c.2074G>C (p.Val692Leu)
n.6773G>C
18g.23904584G=CA2290324636LAMA3c.1678G= (p.Val560=)
c.6505G= (p.Val2169=)
c.3397G= (p.Val1133=)
c.6337G= (p.Val2113=)
c.1283G=
c.1510G= (p.Val504=)
n.1083G=
c.6532G= (p.Val2178=)
c.6523G= (p.Val2175=)
c.6514G= (p.Val2172=)
c.6400G= (p.Val2134=)
c.4384G= (p.Val1462=)
c.2074G= (p.Val692=)
n.6773G=
18g.23904584G>TCA402050363LAMA3c.1678G>T (p.Val560Leu)
c.6505G>T (p.Val2169Leu)
c.3397G>T (p.Val1133Leu)
c.6337G>T (p.Val2113Leu)
c.1283G>T
c.1510G>T (p.Val504Leu)
n.1083G>T
c.6532G>T (p.Val2178Leu)
c.6523G>T (p.Val2175Leu)
c.6514G>T (p.Val2172Leu)
c.6400G>T (p.Val2134Leu)
c.4384G>T (p.Val1462Leu)
c.2074G>T (p.Val692Leu)
n.6773G>T
18g.23904585T>ACA402050365LAMA3c.1679T>A (p.Val560Glu)
c.6506T>A (p.Val2169Glu)
c.3398T>A (p.Val1133Glu)
c.6338T>A (p.Val2113Glu)
c.1284T>A
c.1511T>A (p.Val504Glu)
n.1084T>A
c.6533T>A (p.Val2178Glu)
c.6524T>A (p.Val2175Glu)
c.6515T>A (p.Val2172Glu)
c.6401T>A (p.Val2134Glu)
c.4385T>A (p.Val1462Glu)
c.2075T>A (p.Val692Glu)
n.6774T>A
18g.23904585T>CCA402050364LAMA3c.1679T>C (p.Val560Ala)
c.6506T>C (p.Val2169Ala)
c.3398T>C (p.Val1133Ala)
c.6338T>C (p.Val2113Ala)
c.1284T>C
c.1511T>C (p.Val504Ala)
n.1084T>C
c.6533T>C (p.Val2178Ala)
c.6524T>C (p.Val2175Ala)
c.6515T>C (p.Val2172Ala)
c.6401T>C (p.Val2134Ala)
c.4385T>C (p.Val1462Ala)
c.2075T>C (p.Val692Ala)
n.6774T>C
dbSNP
18g.23904585T>GCA402050366LAMA3c.1679T>G (p.Val560Gly)
c.6506T>G (p.Val2169Gly)
c.3398T>G (p.Val1133Gly)
c.6338T>G (p.Val2113Gly)
c.1284T>G
c.1511T>G (p.Val504Gly)
n.1084T>G
c.6533T>G (p.Val2178Gly)
c.6524T>G (p.Val2175Gly)
c.6515T>G (p.Val2172Gly)
c.6401T>G (p.Val2134Gly)
c.4385T>G (p.Val1462Gly)
c.2075T>G (p.Val692Gly)
n.6774T>G
dbSNP gnomAD v4
18g.23904585T=CA2290324637LAMA3c.1679T= (p.Val560=)
c.6506T= (p.Val2169=)
c.3398T= (p.Val1133=)
c.6338T= (p.Val2113=)
c.1284T=
c.1511T= (p.Val504=)
n.1084T=
c.6533T= (p.Val2178=)
c.6524T= (p.Val2175=)
c.6515T= (p.Val2172=)
c.6401T= (p.Val2134=)
c.4385T= (p.Val1462=)
c.2075T= (p.Val692=)
n.6774T=
18g.23904586G>ACA503336301LAMA3c.1680G>A (p.Val560=)
c.6507G>A (p.Val2169=)
c.3399G>A (p.Val1133=)
c.6339G>A (p.Val2113=)
c.1285G>A
c.1512G>A (p.Val504=)
n.1085G>A
c.6534G>A (p.Val2178=)
c.6525G>A (p.Val2175=)
c.6516G>A (p.Val2172=)
c.6402G>A (p.Val2134=)
c.4386G>A (p.Val1462=)
c.2076G>A (p.Val692=)
n.6775G>A
ClinVar dbSNP gnomAD v4
18g.23904586G>CCA503336302LAMA3c.1680G>C (p.Val560=)
c.6507G>C (p.Val2169=)
c.3399G>C (p.Val1133=)
c.6339G>C (p.Val2113=)
c.1285G>C
c.1512G>C (p.Val504=)
n.1085G>C
c.6534G>C (p.Val2178=)
c.6525G>C (p.Val2175=)
c.6516G>C (p.Val2172=)
c.6402G>C (p.Val2134=)
c.4386G>C (p.Val1462=)
c.2076G>C (p.Val692=)
n.6775G>C
18g.23904586G=CA2290324638LAMA3c.1680G= (p.Val560=)
c.6507G= (p.Val2169=)
c.3399G= (p.Val1133=)
c.6339G= (p.Val2113=)
c.1285G=
c.1512G= (p.Val504=)
n.1085G=
c.6534G= (p.Val2178=)
c.6525G= (p.Val2175=)
c.6516G= (p.Val2172=)
c.6402G= (p.Val2134=)
c.4386G= (p.Val1462=)
c.2076G= (p.Val692=)
n.6775G=
18g.23904586G>TCA503336305LAMA3c.1680G>T (p.Val560=)
c.6507G>T (p.Val2169=)
c.3399G>T (p.Val1133=)
c.6339G>T (p.Val2113=)
c.1285G>T
c.1512G>T (p.Val504=)
n.1085G>T
c.6534G>T (p.Val2178=)
c.6525G>T (p.Val2175=)
c.6516G>T (p.Val2172=)
c.6402G>T (p.Val2134=)
c.4386G>T (p.Val1462=)
c.2076G>T (p.Val692=)
n.6775G>T
18g.23904587C>ACA8916399LAMA3c.1681C>A (p.Arg561Ser)
c.6508C>A (p.Arg2170Ser)
c.3400C>A (p.Arg1134Ser)
c.6340C>A (p.Arg2114Ser)
c.1286C>A
c.1513C>A (p.Arg505Ser)
n.1086C>A
c.6535C>A (p.Arg2179Ser)
c.6526C>A (p.Arg2176Ser)
c.6517C>A (p.Arg2173Ser)
c.6403C>A (p.Arg2135Ser)
c.4387C>A (p.Arg1463Ser)
c.2077C>A (p.Arg693Ser)
n.6776C>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23904587C=CA2290324639LAMA3c.1681C= (p.Arg561=)
c.6508C= (p.Arg2170=)
c.3400C= (p.Arg1134=)
c.6340C= (p.Arg2114=)
c.1286C=
c.1513C= (p.Arg505=)
n.1086C=
c.6535C= (p.Arg2179=)
c.6526C= (p.Arg2176=)
c.6517C= (p.Arg2173=)
c.6403C= (p.Arg2135=)
c.4387C= (p.Arg1463=)
c.2077C= (p.Arg693=)
n.6776C=
18g.23904587C>GCA402050367LAMA3c.1681C>G (p.Arg561Gly)
c.6508C>G (p.Arg2170Gly)
c.3400C>G (p.Arg1134Gly)
c.6340C>G (p.Arg2114Gly)
c.1286C>G
c.1513C>G (p.Arg505Gly)
n.1086C>G
c.6535C>G (p.Arg2179Gly)
c.6526C>G (p.Arg2176Gly)
c.6517C>G (p.Arg2173Gly)
c.6403C>G (p.Arg2135Gly)
c.4387C>G (p.Arg1463Gly)
c.2077C>G (p.Arg693Gly)
n.6776C>G
18g.23904587C>TCA8916398LAMA3c.1681C>T (p.Arg561Cys)
c.6508C>T (p.Arg2170Cys)
c.3400C>T (p.Arg1134Cys)
c.6340C>T (p.Arg2114Cys)
c.1286C>T
c.1513C>T (p.Arg505Cys)
n.1086C>T
c.6535C>T (p.Arg2179Cys)
c.6526C>T (p.Arg2176Cys)
c.6517C>T (p.Arg2173Cys)
c.6403C>T (p.Arg2135Cys)
c.4387C>T (p.Arg1463Cys)
c.2077C>T (p.Arg693Cys)
n.6776C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23904588G>ACA8916400LAMA3c.1682G>A (p.Arg561His)
c.6509G>A (p.Arg2170His)
c.3401G>A (p.Arg1134His)
c.6341G>A (p.Arg2114His)
c.1287G>A
c.1514G>A (p.Arg505His)
n.1087G>A
c.6536G>A (p.Arg2179His)
c.6527G>A (p.Arg2176His)
c.6518G>A (p.Arg2173His)
c.6404G>A (p.Arg2135His)
c.4388G>A (p.Arg1463His)
c.2078G>A (p.Arg693His)
n.6777G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23904588G>CCA8916401LAMA3c.1682G>C (p.Arg561Pro)
c.6509G>C (p.Arg2170Pro)
c.3401G>C (p.Arg1134Pro)
c.6341G>C (p.Arg2114Pro)
c.1287G>C
c.1514G>C (p.Arg505Pro)
n.1087G>C
c.6536G>C (p.Arg2179Pro)
c.6527G>C (p.Arg2176Pro)
c.6518G>C (p.Arg2173Pro)
c.6404G>C (p.Arg2135Pro)
c.4388G>C (p.Arg1463Pro)
c.2078G>C (p.Arg693Pro)
n.6777G>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23904588G=CA2290324640LAMA3c.1682G= (p.Arg561=)
c.6509G= (p.Arg2170=)
c.3401G= (p.Arg1134=)
c.6341G= (p.Arg2114=)
c.1287G=
c.1514G= (p.Arg505=)
n.1087G=
c.6536G= (p.Arg2179=)
c.6527G= (p.Arg2176=)
c.6518G= (p.Arg2173=)
c.6404G= (p.Arg2135=)
c.4388G= (p.Arg1463=)
c.2078G= (p.Arg693=)
n.6777G=
18g.23904588G>TCA402050368LAMA3c.1682G>T (p.Arg561Leu)
c.6509G>T (p.Arg2170Leu)
c.3401G>T (p.Arg1134Leu)
c.6341G>T (p.Arg2114Leu)
c.1287G>T
c.1514G>T (p.Arg505Leu)
n.1087G>T
c.6536G>T (p.Arg2179Leu)
c.6527G>T (p.Arg2176Leu)
c.6518G>T (p.Arg2173Leu)
c.6404G>T (p.Arg2135Leu)
c.4388G>T (p.Arg1463Leu)
c.2078G>T (p.Arg693Leu)
n.6777G>T
dbSNP gnomAD v2 gnomAD v4
18g.23904589C>ACA503336313LAMA3c.1683C>A (p.Arg561=)
c.6510C>A (p.Arg2170=)
c.3402C>A (p.Arg1134=)
c.6342C>A (p.Arg2114=)
c.1288C>A
c.1515C>A (p.Arg505=)
n.1088C>A
c.6537C>A (p.Arg2179=)
c.6528C>A (p.Arg2176=)
c.6519C>A (p.Arg2173=)
c.6405C>A (p.Arg2135=)
c.4389C>A (p.Arg1463=)
c.2079C>A (p.Arg693=)
n.6778C>A
18g.23904589C>GCA503336315LAMA3c.1683C>G (p.Arg561=)
c.6510C>G (p.Arg2170=)
c.3402C>G (p.Arg1134=)
c.6342C>G (p.Arg2114=)
c.1288C>G
c.1515C>G (p.Arg505=)
n.1088C>G
c.6537C>G (p.Arg2179=)
c.6528C>G (p.Arg2176=)
c.6519C>G (p.Arg2173=)
c.6405C>G (p.Arg2135=)
c.4389C>G (p.Arg1463=)
c.2079C>G (p.Arg693=)
n.6778C>G
18g.23904589C>TCA503336317LAMA3c.1683C>T (p.Arg561=)
c.6510C>T (p.Arg2170=)
c.3402C>T (p.Arg1134=)
c.6342C>T (p.Arg2114=)
c.1288C>T
c.1515C>T (p.Arg505=)
n.1088C>T
c.6537C>T (p.Arg2179=)
c.6528C>T (p.Arg2176=)
c.6519C>T (p.Arg2173=)
c.6405C>T (p.Arg2135=)
c.4389C>T (p.Arg1463=)
c.2079C>T (p.Arg693=)
n.6778C>T
18g.23904590T>ACA402050369LAMA3c.1684T>A (p.Cys562Ser)
c.6511T>A (p.Cys2171Ser)
c.3403T>A (p.Cys1135Ser)
c.6343T>A (p.Cys2115Ser)
c.1289T>A
c.1516T>A (p.Cys506Ser)
n.1089T>A
c.6538T>A (p.Cys2180Ser)
c.6529T>A (p.Cys2177Ser)
c.6520T>A (p.Cys2174Ser)
c.6406T>A (p.Cys2136Ser)
c.4390T>A (p.Cys1464Ser)
c.2080T>A (p.Cys694Ser)
n.6779T>A
18g.23904590T>CCA402050370LAMA3c.1684T>C (p.Cys562Arg)
c.6511T>C (p.Cys2171Arg)
c.3403T>C (p.Cys1135Arg)
c.6343T>C (p.Cys2115Arg)
c.1289T>C
c.1516T>C (p.Cys506Arg)
n.1089T>C
c.6538T>C (p.Cys2180Arg)
c.6529T>C (p.Cys2177Arg)
c.6520T>C (p.Cys2174Arg)
c.6406T>C (p.Cys2136Arg)
c.4390T>C (p.Cys1464Arg)
c.2080T>C (p.Cys694Arg)
n.6779T>C
dbSNP gnomAD v4
18g.23904590T>GCA402050371LAMA3c.1684T>G (p.Cys562Gly)
c.6511T>G (p.Cys2171Gly)
c.3403T>G (p.Cys1135Gly)
c.6343T>G (p.Cys2115Gly)
c.1289T>G
c.1516T>G (p.Cys506Gly)
n.1089T>G
c.6538T>G (p.Cys2180Gly)
c.6529T>G (p.Cys2177Gly)
c.6520T>G (p.Cys2174Gly)
c.6406T>G (p.Cys2136Gly)
c.4390T>G (p.Cys1464Gly)
c.2080T>G (p.Cys694Gly)
n.6779T>G
18g.23904590T=CA2290324641LAMA3c.1684T= (p.Cys562=)
c.6511T= (p.Cys2171=)
c.3403T= (p.Cys1135=)
c.6343T= (p.Cys2115=)
c.1289T=
c.1516T= (p.Cys506=)
n.1089T=
c.6538T= (p.Cys2180=)
c.6529T= (p.Cys2177=)
c.6520T= (p.Cys2174=)
c.6406T= (p.Cys2136=)
c.4390T= (p.Cys1464=)
c.2080T= (p.Cys694=)
n.6779T=
18g.23904591G>ACA402050372LAMA3c.1685G>A (p.Cys562Tyr)
c.6512G>A (p.Cys2171Tyr)
c.3404G>A (p.Cys1135Tyr)
c.6344G>A (p.Cys2115Tyr)
c.1290G>A
c.1517G>A (p.Cys506Tyr)
n.1090G>A
c.6539G>A (p.Cys2180Tyr)
c.6530G>A (p.Cys2177Tyr)
c.6521G>A (p.Cys2174Tyr)
c.6407G>A (p.Cys2136Tyr)
c.4391G>A (p.Cys1464Tyr)
c.2081G>A (p.Cys694Tyr)
n.6780G>A
gnomAD v4
18g.23904591G>CCA402050373LAMA3c.1685G>C (p.Cys562Ser)
c.6512G>C (p.Cys2171Ser)
c.3404G>C (p.Cys1135Ser)
c.6344G>C (p.Cys2115Ser)
c.1290G>C
c.1517G>C (p.Cys506Ser)
n.1090G>C
c.6539G>C (p.Cys2180Ser)
c.6530G>C (p.Cys2177Ser)
c.6521G>C (p.Cys2174Ser)
c.6407G>C (p.Cys2136Ser)
c.4391G>C (p.Cys1464Ser)
c.2081G>C (p.Cys694Ser)
n.6780G>C
18g.23904591G>TCA402050374LAMA3c.1685G>T (p.Cys562Phe)
c.6512G>T (p.Cys2171Phe)
c.3404G>T (p.Cys1135Phe)
c.6344G>T (p.Cys2115Phe)
c.1290G>T
c.1517G>T (p.Cys506Phe)
n.1090G>T
c.6539G>T (p.Cys2180Phe)
c.6530G>T (p.Cys2177Phe)
c.6521G>T (p.Cys2174Phe)
c.6407G>T (p.Cys2136Phe)
c.4391G>T (p.Cys1464Phe)
c.2081G>T (p.Cys694Phe)
n.6780G>T
18g.23904592T>ACA402050375LAMA3c.1686T>A (p.Cys562Ter)
c.6513T>A (p.Cys2171Ter)
c.3405T>A (p.Cys1135Ter)
c.6345T>A (p.Cys2115Ter)
c.1291T>A
c.1518T>A (p.Cys506Ter)
n.1091T>A
c.6540T>A (p.Cys2180Ter)
c.6531T>A (p.Cys2177Ter)
c.6522T>A (p.Cys2174Ter)
c.6408T>A (p.Cys2136Ter)
c.4392T>A (p.Cys1464Ter)
c.2082T>A (p.Cys694Ter)
n.6781T>A
18g.23904592T>CCA503336326LAMA3c.1686T>C (p.Cys562=)
c.6513T>C (p.Cys2171=)
c.3405T>C (p.Cys1135=)
c.6345T>C (p.Cys2115=)
c.1291T>C
c.1518T>C (p.Cys506=)
n.1091T>C
c.6540T>C (p.Cys2180=)
c.6531T>C (p.Cys2177=)
c.6522T>C (p.Cys2174=)
c.6408T>C (p.Cys2136=)
c.4392T>C (p.Cys1464=)
c.2082T>C (p.Cys694=)
n.6781T>C
18g.23904592T>GCA402050376LAMA3c.1686T>G (p.Cys562Trp)
c.6513T>G (p.Cys2171Trp)
c.3405T>G (p.Cys1135Trp)
c.6345T>G (p.Cys2115Trp)
c.1291T>G
c.1518T>G (p.Cys506Trp)
n.1091T>G
c.6540T>G (p.Cys2180Trp)
c.6531T>G (p.Cys2177Trp)
c.6522T>G (p.Cys2174Trp)
c.6408T>G (p.Cys2136Trp)
c.4392T>G (p.Cys1464Trp)
c.2082T>G (p.Cys694Trp)
n.6781T>G
18g.23904593G>ACA402050379LAMA3c.1687G>A (p.Ala563Thr)
c.6514G>A (p.Ala2172Thr)
c.3406G>A (p.Ala1136Thr)
c.6346G>A (p.Ala2116Thr)
c.1292G>A
c.1519G>A (p.Ala507Thr)
n.1092G>A
c.6541G>A (p.Ala2181Thr)
c.6532G>A (p.Ala2178Thr)
c.6523G>A (p.Ala2175Thr)
c.6409G>A (p.Ala2137Thr)
c.4393G>A (p.Ala1465Thr)
c.2083G>A (p.Ala695Thr)
n.6782G>A
18g.23904593G>CCA402050377LAMA3c.1687G>C (p.Ala563Pro)
c.6514G>C (p.Ala2172Pro)
c.3406G>C (p.Ala1136Pro)
c.6346G>C (p.Ala2116Pro)
c.1292G>C
c.1519G>C (p.Ala507Pro)
n.1092G>C
c.6541G>C (p.Ala2181Pro)
c.6532G>C (p.Ala2178Pro)
c.6523G>C (p.Ala2175Pro)
c.6409G>C (p.Ala2137Pro)
c.4393G>C (p.Ala1465Pro)
c.2083G>C (p.Ala695Pro)
n.6782G>C
18g.23904593G>TCA402050378LAMA3c.1687G>T (p.Ala563Ser)
c.6514G>T (p.Ala2172Ser)
c.3406G>T (p.Ala1136Ser)
c.6346G>T (p.Ala2116Ser)
c.1292G>T
c.1519G>T (p.Ala507Ser)
n.1092G>T
c.6541G>T (p.Ala2181Ser)
c.6532G>T (p.Ala2178Ser)
c.6523G>T (p.Ala2175Ser)
c.6409G>T (p.Ala2137Ser)
c.4393G>T (p.Ala1465Ser)
c.2083G>T (p.Ala695Ser)
n.6782G>T
18g.23904594C>ACA8916402LAMA3c.1688C>A (p.Ala563Asp)
c.6515C>A (p.Ala2172Asp)
c.3407C>A (p.Ala1136Asp)
c.6347C>A (p.Ala2116Asp)
c.1293C>A
c.1520C>A (p.Ala507Asp)
n.1093C>A
c.6542C>A (p.Ala2181Asp)
c.6533C>A (p.Ala2178Asp)
c.6524C>A (p.Ala2175Asp)
c.6410C>A (p.Ala2137Asp)
c.4394C>A (p.Ala1465Asp)
c.2084C>A (p.Ala695Asp)
n.6783C>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23904594C=CA2290324642LAMA3c.1688C= (p.Ala563=)
c.6515C= (p.Ala2172=)
c.3407C= (p.Ala1136=)
c.6347C= (p.Ala2116=)
c.1293C=
c.1520C= (p.Ala507=)
n.1093C=
c.6542C= (p.Ala2181=)
c.6533C= (p.Ala2178=)
c.6524C= (p.Ala2175=)
c.6410C= (p.Ala2137=)
c.4394C= (p.Ala1465=)
c.2084C= (p.Ala695=)
n.6783C=
18g.23904594C>GCA402050380LAMA3c.1688C>G (p.Ala563Gly)
c.6515C>G (p.Ala2172Gly)
c.3407C>G (p.Ala1136Gly)
c.6347C>G (p.Ala2116Gly)
c.1293C>G
c.1520C>G (p.Ala507Gly)
n.1093C>G
c.6542C>G (p.Ala2181Gly)
c.6533C>G (p.Ala2178Gly)
c.6524C>G (p.Ala2175Gly)
c.6410C>G (p.Ala2137Gly)
c.4394C>G (p.Ala1465Gly)
c.2084C>G (p.Ala695Gly)
n.6783C>G
18g.23904594C>TCA402050381LAMA3c.1688C>T (p.Ala563Val)
c.6515C>T (p.Ala2172Val)
c.3407C>T (p.Ala1136Val)
c.6347C>T (p.Ala2116Val)
c.1293C>T
c.1520C>T (p.Ala507Val)
n.1093C>T
c.6542C>T (p.Ala2181Val)
c.6533C>T (p.Ala2178Val)
c.6524C>T (p.Ala2175Val)
c.6410C>T (p.Ala2137Val)
c.4394C>T (p.Ala1465Val)
c.2084C>T (p.Ala695Val)
n.6783C>T
gnomAD v4
18g.23904595T>ACA503336340LAMA3c.1689T>A (p.Ala563=)
c.6516T>A (p.Ala2172=)
c.3408T>A (p.Ala1136=)
c.6348T>A (p.Ala2116=)
c.1294T>A
c.1521T>A (p.Ala507=)
n.1094T>A
c.6543T>A (p.Ala2181=)
c.6534T>A (p.Ala2178=)
c.6525T>A (p.Ala2175=)
c.6411T>A (p.Ala2137=)
c.4395T>A (p.Ala1465=)
c.2085T>A (p.Ala695=)
n.6784T>A
18g.23904595T>CCA8916403LAMA3c.1689T>C (p.Ala563=)
c.6516T>C (p.Ala2172=)
c.3408T>C (p.Ala1136=)
c.6348T>C (p.Ala2116=)
c.1294T>C
c.1521T>C (p.Ala507=)
n.1094T>C
c.6543T>C (p.Ala2181=)
c.6534T>C (p.Ala2178=)
c.6525T>C (p.Ala2175=)
c.6411T>C (p.Ala2137=)
c.4395T>C (p.Ala1465=)
c.2085T>C (p.Ala695=)
n.6784T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.23904595T>GCA503336343LAMA3c.1689T>G (p.Ala563=)
c.6516T>G (p.Ala2172=)
c.3408T>G (p.Ala1136=)
c.6348T>G (p.Ala2116=)
c.1294T>G
c.1521T>G (p.Ala507=)
n.1094T>G
c.6543T>G (p.Ala2181=)
c.6534T>G (p.Ala2178=)
c.6525T>G (p.Ala2175=)
c.6411T>G (p.Ala2137=)
c.4395T>G (p.Ala1465=)
c.2085T>G (p.Ala695=)
n.6784T>G
18g.23904595T=CA2290324643LAMA3c.1689T= (p.Ala563=)
c.6516T= (p.Ala2172=)
c.3408T= (p.Ala1136=)
c.6348T= (p.Ala2116=)
c.1294T=
c.1521T= (p.Ala507=)
n.1094T=
c.6543T= (p.Ala2181=)
c.6534T= (p.Ala2178=)
c.6525T= (p.Ala2175=)
c.6411T= (p.Ala2137=)
c.4395T= (p.Ala1465=)
c.2085T= (p.Ala695=)
n.6784T=
18g.23904596G>ACA402050382LAMA3c.1690G>A (p.Val564Met)
c.6517G>A (p.Val2173Met)
c.3409G>A (p.Val1137Met)
c.6349G>A (p.Val2117Met)
c.1295G>A
c.1522G>A (p.Val508Met)
n.1095G>A
c.6544G>A (p.Val2182Met)
c.6535G>A (p.Val2179Met)
c.6526G>A (p.Val2176Met)
c.6412G>A (p.Val2138Met)
c.4396G>A (p.Val1466Met)
c.2086G>A (p.Val696Met)
n.6785G>A
gnomAD v4

Number of alleles fetched