Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.23903035G>ACA503334697LAMA3c.1401G>A (p.Leu467=)
c.6228G>A (p.Leu2076=)
c.3120G>A (p.Leu1040=)
c.6060G>A (p.Leu2020=)
c.1006G>A
c.1233G>A (p.Leu411=)
n.806G>A
c.6255G>A (p.Leu2085=)
c.6246G>A (p.Leu2082=)
c.6237G>A (p.Leu2079=)
c.6123G>A (p.Leu2041=)
c.4107G>A (p.Leu1369=)
c.1797G>A (p.Leu599=)
n.6496G>A
 gnomAD v4
18g.23903035G>CCA503334700LAMA3c.1401G>C (p.Leu467=)
c.6228G>C (p.Leu2076=)
c.3120G>C (p.Leu1040=)
c.6060G>C (p.Leu2020=)
c.1006G>C
c.1233G>C (p.Leu411=)
n.806G>C
c.6255G>C (p.Leu2085=)
c.6246G>C (p.Leu2082=)
c.6237G>C (p.Leu2079=)
c.6123G>C (p.Leu2041=)
c.4107G>C (p.Leu1369=)
c.1797G>C (p.Leu599=)
n.6496G>C
18g.23903035G>TCA503334699LAMA3c.1401G>T (p.Leu467=)
c.6228G>T (p.Leu2076=)
c.3120G>T (p.Leu1040=)
c.6060G>T (p.Leu2020=)
c.1006G>T
c.1233G>T (p.Leu411=)
n.806G>T
c.6255G>T (p.Leu2085=)
c.6246G>T (p.Leu2082=)
c.6237G>T (p.Leu2079=)
c.6123G>T (p.Leu2041=)
c.4107G>T (p.Leu1369=)
c.1797G>T (p.Leu599=)
n.6496G>T
18g.23903036_23903038delCA913014993LAMA3c.1402_1404del (p.Gln468del)
c.6229_6231del (p.Gln2077del)
c.3121_3123del (p.Gln1041del)
c.6061_6063del (p.Gln2021del)
c.1007_1009del
c.1234_1236del (p.Gln412del)
n.807_809del
c.6256_6258del (p.Gln2086del)
c.6247_6249del (p.Gln2083del)
c.6238_6240del (p.Gln2080del)
c.6124_6126del (p.Gln2042del)
c.4108_4110del (p.Gln1370del)
c.1798_1800del (p.Gln600del)
n.6497_6499del
18g.23903035_23903036insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAACA8916313LAMA3c.1401_1402insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA (p.Gln468GlyfsTer26)
c.6228_6229insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA (p.Gln2077GlyfsTer26)
c.3120_3121insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA (p.Gln1041GlyfsTer26)
c.6060_6061insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA (p.Gln2021GlyfsTer26)
c.1006_1007insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA
c.1233_1234insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA (p.Gln412GlyfsTer26)
n.806_807insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA
c.6255_6256insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA (p.Gln2086GlyfsTer26)
c.6246_6247insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA (p.Gln2083GlyfsTer26)
c.6237_6238insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA (p.Gln2080GlyfsTer26)
c.6123_6124insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA (p.Gln2042GlyfsTer26)
c.4107_4108insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA (p.Gln1370GlyfsTer26)
c.1797_1798insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA (p.Gln600GlyfsTer26)
n.6496_6497insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA
 ExAC
18g.23903036C>ACA402048710LAMA3c.1402C>A (p.Gln468Lys)
c.6229C>A (p.Gln2077Lys)
c.3121C>A (p.Gln1041Lys)
c.6061C>A (p.Gln2021Lys)
c.1007C>A
c.1234C>A (p.Gln412Lys)
n.807C>A
c.6256C>A (p.Gln2086Lys)
c.6247C>A (p.Gln2083Lys)
c.6238C>A (p.Gln2080Lys)
c.6124C>A (p.Gln2042Lys)
c.4108C>A (p.Gln1370Lys)
c.1798C>A (p.Gln600Lys)
n.6497C>A
18g.23903036C>GCA402048709LAMA3c.1402C>G (p.Gln468Glu)
c.6229C>G (p.Gln2077Glu)
c.3121C>G (p.Gln1041Glu)
c.6061C>G (p.Gln2021Glu)
c.1007C>G
c.1234C>G (p.Gln412Glu)
n.807C>G
c.6256C>G (p.Gln2086Glu)
c.6247C>G (p.Gln2083Glu)
c.6238C>G (p.Gln2080Glu)
c.6124C>G (p.Gln2042Glu)
c.4108C>G (p.Gln1370Glu)
c.1798C>G (p.Gln600Glu)
n.6497C>G
18g.23903036C>TCA402048708LAMA3c.1402C>T (p.Gln468Ter)
c.6229C>T (p.Gln2077Ter)
c.3121C>T (p.Gln1041Ter)
c.6061C>T (p.Gln2021Ter)
c.1007C>T
c.1234C>T (p.Gln412Ter)
n.807C>T
c.6256C>T (p.Gln2086Ter)
c.6247C>T (p.Gln2083Ter)
c.6238C>T (p.Gln2080Ter)
c.6124C>T (p.Gln2042Ter)
c.4108C>T (p.Gln1370Ter)
c.1798C>T (p.Gln600Ter)
n.6497C>T
18g.23903036_23903038delinsCAGCA2290323921LAMA3c.1402_1404delinsCAG (p.Gln468=)
c.6229_6231delinsCAG (p.Gln2077=)
c.3121_3123delinsCAG (p.Gln1041=)
c.6061_6063delinsCAG (p.Gln2021=)
c.1007_1009delinsCAG
c.1234_1236delinsCAG (p.Gln412=)
n.807_809delinsCAG
c.6256_6258delinsCAG (p.Gln2086=)
c.6247_6249delinsCAG (p.Gln2083=)
c.6238_6240delinsCAG (p.Gln2080=)
c.6124_6126delinsCAG (p.Gln2042=)
c.4108_4110delinsCAG (p.Gln1370=)
c.1798_1800delinsCAG (p.Gln600=)
n.6497_6499delinsCAG
18g.23903037A=CA2290323928LAMA3c.1403A= (p.Gln468=)
c.6230A= (p.Gln2077=)
c.3122A= (p.Gln1041=)
c.6062A= (p.Gln2021=)
c.1008A=
c.1235A= (p.Gln412=)
n.808A=
c.6257A= (p.Gln2086=)
c.6248A= (p.Gln2083=)
c.6239A= (p.Gln2080=)
c.6125A= (p.Gln2042=)
c.4109A= (p.Gln1370=)
c.1799A= (p.Gln600=)
n.6498A=
18g.23903037A>CCA402048711LAMA3c.1403A>C (p.Gln468Pro)
c.6230A>C (p.Gln2077Pro)
c.3122A>C (p.Gln1041Pro)
c.6062A>C (p.Gln2021Pro)
c.1008A>C
c.1235A>C (p.Gln412Pro)
n.808A>C
c.6257A>C (p.Gln2086Pro)
c.6248A>C (p.Gln2083Pro)
c.6239A>C (p.Gln2080Pro)
c.6125A>C (p.Gln2042Pro)
c.4109A>C (p.Gln1370Pro)
c.1799A>C (p.Gln600Pro)
n.6498A>C
18g.23903037A>GCA402048713LAMA3c.1403A>G (p.Gln468Arg)
c.6230A>G (p.Gln2077Arg)
c.3122A>G (p.Gln1041Arg)
c.6062A>G (p.Gln2021Arg)
c.1008A>G
c.1235A>G (p.Gln412Arg)
n.808A>G
c.6257A>G (p.Gln2086Arg)
c.6248A>G (p.Gln2083Arg)
c.6239A>G (p.Gln2080Arg)
c.6125A>G (p.Gln2042Arg)
c.4109A>G (p.Gln1370Arg)
c.1799A>G (p.Gln600Arg)
n.6498A>G
 dbSNP
18g.23903037A>TCA402048712LAMA3c.1403A>T (p.Gln468Leu)
c.6230A>T (p.Gln2077Leu)
c.3122A>T (p.Gln1041Leu)
c.6062A>T (p.Gln2021Leu)
c.1008A>T
c.1235A>T (p.Gln412Leu)
n.808A>T
c.6257A>T (p.Gln2086Leu)
c.6248A>T (p.Gln2083Leu)
c.6239A>T (p.Gln2080Leu)
c.6125A>T (p.Gln2042Leu)
c.4109A>T (p.Gln1370Leu)
c.1799A>T (p.Gln600Leu)
n.6498A>T
18g.23903039_23903040delCA628684861LAMA3c.1405_1406del (p.Ser469Ter)
c.6232_6233del (p.Ser2078Ter)
c.3124_3125del (p.Ser1042Ter)
c.6064_6065del (p.Ser2022Ter)
c.1010_1011del
c.1237_1238del (p.Ser413Ter)
n.810_811del
c.6259_6260del (p.Ser2087Ter)
c.6250_6251del (p.Ser2084Ter)
c.6241_6242del (p.Ser2081Ter)
c.6127_6128del (p.Ser2043Ter)
c.4111_4112del (p.Ser1371Ter)
c.1801_1802del (p.Ser601Ter)
n.6500_6501del
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23903038G>ACA503334708LAMA3c.1404G>A (p.Gln468=)
c.6231G>A (p.Gln2077=)
c.3123G>A (p.Gln1041=)
c.6063G>A (p.Gln2021=)
c.1009G>A
c.1236G>A (p.Gln412=)
n.809G>A
c.6258G>A (p.Gln2086=)
c.6249G>A (p.Gln2083=)
c.6240G>A (p.Gln2080=)
c.6126G>A (p.Gln2042=)
c.4110G>A (p.Gln1370=)
c.1800G>A (p.Gln600=)
n.6499G>A
18g.23903038G>CCA8916314LAMA3c.1404G>C (p.Gln468His)
c.6231G>C (p.Gln2077His)
c.3123G>C (p.Gln1041His)
c.6063G>C (p.Gln2021His)
c.1009G>C
c.1236G>C (p.Gln412His)
n.809G>C
c.6258G>C (p.Gln2086His)
c.6249G>C (p.Gln2083His)
c.6240G>C (p.Gln2080His)
c.6126G>C (p.Gln2042His)
c.4110G>C (p.Gln1370His)
c.1800G>C (p.Gln600His)
n.6499G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23903038G=CA2290323932LAMA3c.1404G= (p.Gln468=)
c.6231G= (p.Gln2077=)
c.3123G= (p.Gln1041=)
c.6063G= (p.Gln2021=)
c.1009G=
c.1236G= (p.Gln412=)
n.809G=
c.6258G= (p.Gln2086=)
c.6249G= (p.Gln2083=)
c.6240G= (p.Gln2080=)
c.6126G= (p.Gln2042=)
c.4110G= (p.Gln1370=)
c.1800G= (p.Gln600=)
n.6499G=
18g.23903038G>TCA402048714LAMA3c.1404G>T (p.Gln468His)
c.6231G>T (p.Gln2077His)
c.3123G>T (p.Gln1041His)
c.6063G>T (p.Gln2021His)
c.1009G>T
c.1236G>T (p.Gln412His)
n.809G>T
c.6258G>T (p.Gln2086His)
c.6249G>T (p.Gln2083His)
c.6240G>T (p.Gln2080His)
c.6126G>T (p.Gln2042His)
c.4110G>T (p.Gln1370His)
c.1800G>T (p.Gln600His)
n.6499G>T
18g.23903039A=CA2290323934LAMA3c.1405A= (p.Ser469=)
c.6232A= (p.Ser2078=)
c.3124A= (p.Ser1042=)
c.6064A= (p.Ser2022=)
c.1010A=
c.1237A= (p.Ser413=)
n.810A=
c.6259A= (p.Ser2087=)
c.6250A= (p.Ser2084=)
c.6241A= (p.Ser2081=)
c.6127A= (p.Ser2043=)
c.4111A= (p.Ser1371=)
c.1801A= (p.Ser601=)
n.6500A=
18g.23903039A>CCA402048715LAMA3c.1405A>C (p.Ser469Arg)
c.6232A>C (p.Ser2078Arg)
c.3124A>C (p.Ser1042Arg)
c.6064A>C (p.Ser2022Arg)
c.1010A>C
c.1237A>C (p.Ser413Arg)
n.810A>C
c.6259A>C (p.Ser2087Arg)
c.6250A>C (p.Ser2084Arg)
c.6241A>C (p.Ser2081Arg)
c.6127A>C (p.Ser2043Arg)
c.4111A>C (p.Ser1371Arg)
c.1801A>C (p.Ser601Arg)
n.6500A>C
18g.23903039A>GCA402048716LAMA3c.1405A>G (p.Ser469Gly)
c.6232A>G (p.Ser2078Gly)
c.3124A>G (p.Ser1042Gly)
c.6064A>G (p.Ser2022Gly)
c.1010A>G
c.1237A>G (p.Ser413Gly)
n.810A>G
c.6259A>G (p.Ser2087Gly)
c.6250A>G (p.Ser2084Gly)
c.6241A>G (p.Ser2081Gly)
c.6127A>G (p.Ser2043Gly)
c.4111A>G (p.Ser1371Gly)
c.1801A>G (p.Ser601Gly)
n.6500A>G
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
18g.23903039A>TCA402048717LAMA3c.1405A>T (p.Ser469Cys)
c.6232A>T (p.Ser2078Cys)
c.3124A>T (p.Ser1042Cys)
c.6064A>T (p.Ser2022Cys)
c.1010A>T
c.1237A>T (p.Ser413Cys)
n.810A>T
c.6259A>T (p.Ser2087Cys)
c.6250A>T (p.Ser2084Cys)
c.6241A>T (p.Ser2081Cys)
c.6127A>T (p.Ser2043Cys)
c.4111A>T (p.Ser1371Cys)
c.1801A>T (p.Ser601Cys)
n.6500A>T
18g.23903040G>ACA402048719LAMA3c.1406G>A (p.Ser469Asn)
c.6233G>A (p.Ser2078Asn)
c.3125G>A (p.Ser1042Asn)
c.6065G>A (p.Ser2022Asn)
c.1011G>A
c.1238G>A (p.Ser413Asn)
n.811G>A
c.6260G>A (p.Ser2087Asn)
c.6251G>A (p.Ser2084Asn)
c.6242G>A (p.Ser2081Asn)
c.6128G>A (p.Ser2043Asn)
c.4112G>A (p.Ser1371Asn)
c.1802G>A (p.Ser601Asn)
n.6501G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23903040G>CCA402048721LAMA3c.1406G>C (p.Ser469Thr)
c.6233G>C (p.Ser2078Thr)
c.3125G>C (p.Ser1042Thr)
c.6065G>C (p.Ser2022Thr)
c.1011G>C
c.1238G>C (p.Ser413Thr)
n.811G>C
c.6260G>C (p.Ser2087Thr)
c.6251G>C (p.Ser2084Thr)
c.6242G>C (p.Ser2081Thr)
c.6128G>C (p.Ser2043Thr)
c.4112G>C (p.Ser1371Thr)
c.1802G>C (p.Ser601Thr)
n.6501G>C
18g.23903040G=CA2290323937LAMA3c.1406G= (p.Ser469=)
c.6233G= (p.Ser2078=)
c.3125G= (p.Ser1042=)
c.6065G= (p.Ser2022=)
c.1011G=
c.1238G= (p.Ser413=)
n.811G=
c.6260G= (p.Ser2087=)
c.6251G= (p.Ser2084=)
c.6242G= (p.Ser2081=)
c.6128G= (p.Ser2043=)
c.4112G= (p.Ser1371=)
c.1802G= (p.Ser601=)
n.6501G=
18g.23903040G>TCA402048723LAMA3c.1406G>T (p.Ser469Ile)
c.6233G>T (p.Ser2078Ile)
c.3125G>T (p.Ser1042Ile)
c.6065G>T (p.Ser2022Ile)
c.1011G>T
c.1238G>T (p.Ser413Ile)
n.811G>T
c.6260G>T (p.Ser2087Ile)
c.6251G>T (p.Ser2084Ile)
c.6242G>T (p.Ser2081Ile)
c.6128G>T (p.Ser2043Ile)
c.4112G>T (p.Ser1371Ile)
c.1802G>T (p.Ser601Ile)
n.6501G>T
18g.23903041T>ACA402048724LAMA3c.1407T>A (p.Ser469Arg)
c.6234T>A (p.Ser2078Arg)
c.3126T>A (p.Ser1042Arg)
c.6066T>A (p.Ser2022Arg)
c.1012T>A
c.1239T>A (p.Ser413Arg)
n.812T>A
c.6261T>A (p.Ser2087Arg)
c.6252T>A (p.Ser2084Arg)
c.6243T>A (p.Ser2081Arg)
c.6129T>A (p.Ser2043Arg)
c.4113T>A (p.Ser1371Arg)
c.1803T>A (p.Ser601Arg)
n.6502T>A
18g.23903041T>CCA503334718LAMA3c.1407T>C (p.Ser469=)
c.6234T>C (p.Ser2078=)
c.3126T>C (p.Ser1042=)
c.6066T>C (p.Ser2022=)
c.1012T>C
c.1239T>C (p.Ser413=)
n.812T>C
c.6261T>C (p.Ser2087=)
c.6252T>C (p.Ser2084=)
c.6243T>C (p.Ser2081=)
c.6129T>C (p.Ser2043=)
c.4113T>C (p.Ser1371=)
c.1803T>C (p.Ser601=)
n.6502T>C
18g.23903041T>GCA402048726LAMA3c.1407T>G (p.Ser469Arg)
c.6234T>G (p.Ser2078Arg)
c.3126T>G (p.Ser1042Arg)
c.6066T>G (p.Ser2022Arg)
c.1012T>G
c.1239T>G (p.Ser413Arg)
n.812T>G
c.6261T>G (p.Ser2087Arg)
c.6252T>G (p.Ser2084Arg)
c.6243T>G (p.Ser2081Arg)
c.6129T>G (p.Ser2043Arg)
c.4113T>G (p.Ser1371Arg)
c.1803T>G (p.Ser601Arg)
n.6502T>G
18g.23903042G>ACA402048729LAMA3c.1408G>A (p.Asp470Asn)
c.6235G>A (p.Asp2079Asn)
c.3127G>A (p.Asp1043Asn)
c.6067G>A (p.Asp2023Asn)
c.1013G>A
c.1240G>A (p.Asp414Asn)
n.813G>A
c.6262G>A (p.Asp2088Asn)
c.6253G>A (p.Asp2085Asn)
c.6244G>A (p.Asp2082Asn)
c.6130G>A (p.Asp2044Asn)
c.4114G>A (p.Asp1372Asn)
c.1804G>A (p.Asp602Asn)
n.6503G>A
 dbSNP
18g.23903042G>CCA402048730LAMA3c.1408G>C (p.Asp470His)
c.6235G>C (p.Asp2079His)
c.3127G>C (p.Asp1043His)
c.6067G>C (p.Asp2023His)
c.1013G>C
c.1240G>C (p.Asp414His)
n.813G>C
c.6262G>C (p.Asp2088His)
c.6253G>C (p.Asp2085His)
c.6244G>C (p.Asp2082His)
c.6130G>C (p.Asp2044His)
c.4114G>C (p.Asp1372His)
c.1804G>C (p.Asp602His)
n.6503G>C
18g.23903042G=CA2290323939LAMA3c.1408G= (p.Asp470=)
c.6235G= (p.Asp2079=)
c.3127G= (p.Asp1043=)
c.6067G= (p.Asp2023=)
c.1013G=
c.1240G= (p.Asp414=)
n.813G=
c.6262G= (p.Asp2088=)
c.6253G= (p.Asp2085=)
c.6244G= (p.Asp2082=)
c.6130G= (p.Asp2044=)
c.4114G= (p.Asp1372=)
c.1804G= (p.Asp602=)
n.6503G=
18g.23903042G>TCA402048732LAMA3c.1408G>T (p.Asp470Tyr)
c.6235G>T (p.Asp2079Tyr)
c.3127G>T (p.Asp1043Tyr)
c.6067G>T (p.Asp2023Tyr)
c.1013G>T
c.1240G>T (p.Asp414Tyr)
n.813G>T
c.6262G>T (p.Asp2088Tyr)
c.6253G>T (p.Asp2085Tyr)
c.6244G>T (p.Asp2082Tyr)
c.6130G>T (p.Asp2044Tyr)
c.4114G>T (p.Asp1372Tyr)
c.1804G>T (p.Asp602Tyr)
n.6503G>T
18g.23903043A>CCA402048734LAMA3c.1409A>C (p.Asp470Ala)
c.6236A>C (p.Asp2079Ala)
c.3128A>C (p.Asp1043Ala)
c.6068A>C (p.Asp2023Ala)
c.1014A>C
c.1241A>C (p.Asp414Ala)
n.814A>C
c.6263A>C (p.Asp2088Ala)
c.6254A>C (p.Asp2085Ala)
c.6245A>C (p.Asp2082Ala)
c.6131A>C (p.Asp2044Ala)
c.4115A>C (p.Asp1372Ala)
c.1805A>C (p.Asp602Ala)
n.6504A>C
18g.23903043A>GCA402048738LAMA3c.1409A>G (p.Asp470Gly)
c.6236A>G (p.Asp2079Gly)
c.3128A>G (p.Asp1043Gly)
c.6068A>G (p.Asp2023Gly)
c.1014A>G
c.1241A>G (p.Asp414Gly)
n.814A>G
c.6263A>G (p.Asp2088Gly)
c.6254A>G (p.Asp2085Gly)
c.6245A>G (p.Asp2082Gly)
c.6131A>G (p.Asp2044Gly)
c.4115A>G (p.Asp1372Gly)
c.1805A>G (p.Asp602Gly)
n.6504A>G
18g.23903043A>TCA402048736LAMA3c.1409A>T (p.Asp470Val)
c.6236A>T (p.Asp2079Val)
c.3128A>T (p.Asp1043Val)
c.6068A>T (p.Asp2023Val)
c.1014A>T
c.1241A>T (p.Asp414Val)
n.814A>T
c.6263A>T (p.Asp2088Val)
c.6254A>T (p.Asp2085Val)
c.6245A>T (p.Asp2082Val)
c.6131A>T (p.Asp2044Val)
c.4115A>T (p.Asp1372Val)
c.1805A>T (p.Asp602Val)
n.6504A>T
18g.23903044T>ACA402048740LAMA3c.1410T>A (p.Asp470Glu)
c.6237T>A (p.Asp2079Glu)
c.3129T>A (p.Asp1043Glu)
c.6069T>A (p.Asp2023Glu)
c.1015T>A
c.1242T>A (p.Asp414Glu)
n.815T>A
c.6264T>A (p.Asp2088Glu)
c.6255T>A (p.Asp2085Glu)
c.6246T>A (p.Asp2082Glu)
c.6132T>A (p.Asp2044Glu)
c.4116T>A (p.Asp1372Glu)
c.1806T>A (p.Asp602Glu)
n.6505T>A
18g.23903044T>CCA503334727LAMA3c.1410T>C (p.Asp470=)
c.6237T>C (p.Asp2079=)
c.3129T>C (p.Asp1043=)
c.6069T>C (p.Asp2023=)
c.1015T>C
c.1242T>C (p.Asp414=)
n.815T>C
c.6264T>C (p.Asp2088=)
c.6255T>C (p.Asp2085=)
c.6246T>C (p.Asp2082=)
c.6132T>C (p.Asp2044=)
c.4116T>C (p.Asp1372=)
c.1806T>C (p.Asp602=)
n.6505T>C
18g.23903044T>GCA402048741LAMA3c.1410T>G (p.Asp470Glu)
c.6237T>G (p.Asp2079Glu)
c.3129T>G (p.Asp1043Glu)
c.6069T>G (p.Asp2023Glu)
c.1015T>G
c.1242T>G (p.Asp414Glu)
n.815T>G
c.6264T>G (p.Asp2088Glu)
c.6255T>G (p.Asp2085Glu)
c.6246T>G (p.Asp2082Glu)
c.6132T>G (p.Asp2044Glu)
c.4116T>G (p.Asp1372Glu)
c.1806T>G (p.Asp602Glu)
n.6505T>G
18g.23903045T>ACA402048743LAMA3c.1411T>A (p.Phe471Ile)
c.6238T>A (p.Phe2080Ile)
c.3130T>A (p.Phe1044Ile)
c.6070T>A (p.Phe2024Ile)
c.1016T>A
c.1243T>A (p.Phe415Ile)
n.816T>A
c.6265T>A (p.Phe2089Ile)
c.6256T>A (p.Phe2086Ile)
c.6247T>A (p.Phe2083Ile)
c.6133T>A (p.Phe2045Ile)
c.4117T>A (p.Phe1373Ile)
c.1807T>A (p.Phe603Ile)
n.6506T>A
18g.23903045T>CCA402048745LAMA3c.1411T>C (p.Phe471Leu)
c.6238T>C (p.Phe2080Leu)
c.3130T>C (p.Phe1044Leu)
c.6070T>C (p.Phe2024Leu)
c.1016T>C
c.1243T>C (p.Phe415Leu)
n.816T>C
c.6265T>C (p.Phe2089Leu)
c.6256T>C (p.Phe2086Leu)
c.6247T>C (p.Phe2083Leu)
c.6133T>C (p.Phe2045Leu)
c.4117T>C (p.Phe1373Leu)
c.1807T>C (p.Phe603Leu)
n.6506T>C
18g.23903045T>GCA402048746LAMA3c.1411T>G (p.Phe471Val)
c.6238T>G (p.Phe2080Val)
c.3130T>G (p.Phe1044Val)
c.6070T>G (p.Phe2024Val)
c.1016T>G
c.1243T>G (p.Phe415Val)
n.816T>G
c.6265T>G (p.Phe2089Val)
c.6256T>G (p.Phe2086Val)
c.6247T>G (p.Phe2083Val)
c.6133T>G (p.Phe2045Val)
c.4117T>G (p.Phe1373Val)
c.1807T>G (p.Phe603Val)
n.6506T>G
18g.23903046T>ACA402048748LAMA3c.1412T>A (p.Phe471Tyr)
c.6239T>A (p.Phe2080Tyr)
c.3131T>A (p.Phe1044Tyr)
c.6071T>A (p.Phe2024Tyr)
c.1017T>A
c.1244T>A (p.Phe415Tyr)
n.817T>A
c.6266T>A (p.Phe2089Tyr)
c.6257T>A (p.Phe2086Tyr)
c.6248T>A (p.Phe2083Tyr)
c.6134T>A (p.Phe2045Tyr)
c.4118T>A (p.Phe1373Tyr)
c.1808T>A (p.Phe603Tyr)
n.6507T>A
18g.23903046T>CCA8916315LAMA3c.1412T>C (p.Phe471Ser)
c.6239T>C (p.Phe2080Ser)
c.3131T>C (p.Phe1044Ser)
c.6071T>C (p.Phe2024Ser)
c.1017T>C
c.1244T>C (p.Phe415Ser)
n.817T>C
c.6266T>C (p.Phe2089Ser)
c.6257T>C (p.Phe2086Ser)
c.6248T>C (p.Phe2083Ser)
c.6134T>C (p.Phe2045Ser)
c.4118T>C (p.Phe1373Ser)
c.1808T>C (p.Phe603Ser)
n.6507T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23903046T>GCA402048751LAMA3c.1412T>G (p.Phe471Cys)
c.6239T>G (p.Phe2080Cys)
c.3131T>G (p.Phe1044Cys)
c.6071T>G (p.Phe2024Cys)
c.1017T>G
c.1244T>G (p.Phe415Cys)
n.817T>G
c.6266T>G (p.Phe2089Cys)
c.6257T>G (p.Phe2086Cys)
c.6248T>G (p.Phe2083Cys)
c.6134T>G (p.Phe2045Cys)
c.4118T>G (p.Phe1373Cys)
c.1808T>G (p.Phe603Cys)
n.6507T>G
18g.23903046T=CA2290323942LAMA3c.1412T= (p.Phe471=)
c.6239T= (p.Phe2080=)
c.3131T= (p.Phe1044=)
c.6071T= (p.Phe2024=)
c.1017T=
c.1244T= (p.Phe415=)
n.817T=
c.6266T= (p.Phe2089=)
c.6257T= (p.Phe2086=)
c.6248T= (p.Phe2083=)
c.6134T= (p.Phe2045=)
c.4118T= (p.Phe1373=)
c.1808T= (p.Phe603=)
n.6507T=
18g.23903047C>ACA402048753LAMA3c.1413C>A (p.Phe471Leu)
c.6240C>A (p.Phe2080Leu)
c.3132C>A (p.Phe1044Leu)
c.6072C>A (p.Phe2024Leu)
c.1018C>A
c.1245C>A (p.Phe415Leu)
n.818C>A
c.6267C>A (p.Phe2089Leu)
c.6258C>A (p.Phe2086Leu)
c.6249C>A (p.Phe2083Leu)
c.6135C>A (p.Phe2045Leu)
c.4119C>A (p.Phe1373Leu)
c.1809C>A (p.Phe603Leu)
n.6508C>A
18g.23903047C>GCA402048754LAMA3c.1413C>G (p.Phe471Leu)
c.6240C>G (p.Phe2080Leu)
c.3132C>G (p.Phe1044Leu)
c.6072C>G (p.Phe2024Leu)
c.1018C>G
c.1245C>G (p.Phe415Leu)
n.818C>G
c.6267C>G (p.Phe2089Leu)
c.6258C>G (p.Phe2086Leu)
c.6249C>G (p.Phe2083Leu)
c.6135C>G (p.Phe2045Leu)
c.4119C>G (p.Phe1373Leu)
c.1809C>G (p.Phe603Leu)
n.6508C>G
18g.23903047C>TCA503334736LAMA3c.1413C>T (p.Phe471=)
c.6240C>T (p.Phe2080=)
c.3132C>T (p.Phe1044=)
c.6072C>T (p.Phe2024=)
c.1018C>T
c.1245C>T (p.Phe415=)
n.818C>T
c.6267C>T (p.Phe2089=)
c.6258C>T (p.Phe2086=)
c.6249C>T (p.Phe2083=)
c.6135C>T (p.Phe2045=)
c.4119C>T (p.Phe1373=)
c.1809C>T (p.Phe603=)
n.6508C>T
18g.23903048A>CCA402048761LAMA3c.1414A>C (p.Thr472Pro)
c.6241A>C (p.Thr2081Pro)
c.3133A>C (p.Thr1045Pro)
c.6073A>C (p.Thr2025Pro)
c.1019A>C
c.1246A>C (p.Thr416Pro)
n.819A>C
c.6268A>C (p.Thr2090Pro)
c.6259A>C (p.Thr2087Pro)
c.6250A>C (p.Thr2084Pro)
c.6136A>C (p.Thr2046Pro)
c.4120A>C (p.Thr1374Pro)
c.1810A>C (p.Thr604Pro)
n.6509A>C

Number of alleles fetched