Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.23876358A=CA2290312348LAMA3c.236A= (p.Asn79=)
c.5063A= (p.Asn1688=)
c.1955A= (p.Asn652=)
c.5090A= (p.Asn1697=)
c.5081A= (p.Asn1694=)
c.5072A= (p.Asn1691=)
c.4958A= (p.Asn1653=)
c.2942A= (p.Asn981=)
c.632A= (p.Asn211=)
n.5331A=
18g.23876358A>CCA402044984LAMA3c.236A>C (p.Asn79Thr)
c.5063A>C (p.Asn1688Thr)
c.1955A>C (p.Asn652Thr)
c.5090A>C (p.Asn1697Thr)
c.5081A>C (p.Asn1694Thr)
c.5072A>C (p.Asn1691Thr)
c.4958A>C (p.Asn1653Thr)
c.2942A>C (p.Asn981Thr)
c.632A>C (p.Asn211Thr)
n.5331A>C
18g.23876358A>GCA8915876LAMA3c.236A>G (p.Asn79Ser)
c.5063A>G (p.Asn1688Ser)
c.1955A>G (p.Asn652Ser)
c.5090A>G (p.Asn1697Ser)
c.5081A>G (p.Asn1694Ser)
c.5072A>G (p.Asn1691Ser)
c.4958A>G (p.Asn1653Ser)
c.2942A>G (p.Asn981Ser)
c.632A>G (p.Asn211Ser)
n.5331A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23876358A>TCA8915877LAMA3c.236A>T (p.Asn79Ile)
c.5063A>T (p.Asn1688Ile)
c.1955A>T (p.Asn652Ile)
c.5090A>T (p.Asn1697Ile)
c.5081A>T (p.Asn1694Ile)
c.5072A>T (p.Asn1691Ile)
c.4958A>T (p.Asn1653Ile)
c.2942A>T (p.Asn981Ile)
c.632A>T (p.Asn211Ile)
n.5331A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23876359T>ACA402044985LAMA3c.237T>A (p.Asn79Lys)
c.5064T>A (p.Asn1688Lys)
c.1956T>A (p.Asn652Lys)
c.5091T>A (p.Asn1697Lys)
c.5082T>A (p.Asn1694Lys)
c.5073T>A (p.Asn1691Lys)
c.4959T>A (p.Asn1653Lys)
c.2943T>A (p.Asn981Lys)
c.633T>A (p.Asn211Lys)
n.5332T>A
18g.23876359T>CCA503327898LAMA3c.237T>C (p.Asn79=)
c.5064T>C (p.Asn1688=)
c.1956T>C (p.Asn652=)
c.5091T>C (p.Asn1697=)
c.5082T>C (p.Asn1694=)
c.5073T>C (p.Asn1691=)
c.4959T>C (p.Asn1653=)
c.2943T>C (p.Asn981=)
c.633T>C (p.Asn211=)
n.5332T>C
18g.23876359T>GCA402044986LAMA3c.237T>G (p.Asn79Lys)
c.5064T>G (p.Asn1688Lys)
c.1956T>G (p.Asn652Lys)
c.5091T>G (p.Asn1697Lys)
c.5082T>G (p.Asn1694Lys)
c.5073T>G (p.Asn1691Lys)
c.4959T>G (p.Asn1653Lys)
c.2943T>G (p.Asn981Lys)
c.633T>G (p.Asn211Lys)
n.5332T>G
18g.23876360T>ACA402044987LAMA3c.238T>A (p.Cys80Ser)
c.5065T>A (p.Cys1689Ser)
c.1957T>A (p.Cys653Ser)
c.5092T>A (p.Cys1698Ser)
c.5083T>A (p.Cys1695Ser)
c.5074T>A (p.Cys1692Ser)
c.4960T>A (p.Cys1654Ser)
c.2944T>A (p.Cys982Ser)
c.634T>A (p.Cys212Ser)
n.5333T>A
18g.23876360T>CCA402044988LAMA3c.238T>C (p.Cys80Arg)
c.5065T>C (p.Cys1689Arg)
c.1957T>C (p.Cys653Arg)
c.5092T>C (p.Cys1698Arg)
c.5083T>C (p.Cys1695Arg)
c.5074T>C (p.Cys1692Arg)
c.4960T>C (p.Cys1654Arg)
c.2944T>C (p.Cys982Arg)
c.634T>C (p.Cys212Arg)
n.5333T>C
18g.23876360T>GCA402044989LAMA3c.238T>G (p.Cys80Gly)
c.5065T>G (p.Cys1689Gly)
c.1957T>G (p.Cys653Gly)
c.5092T>G (p.Cys1698Gly)
c.5083T>G (p.Cys1695Gly)
c.5074T>G (p.Cys1692Gly)
c.4960T>G (p.Cys1654Gly)
c.2944T>G (p.Cys982Gly)
c.634T>G (p.Cys212Gly)
n.5333T>G
18g.23876361G>ACA8915878LAMA3c.239G>A (p.Cys80Tyr)
c.5066G>A (p.Cys1689Tyr)
c.1958G>A (p.Cys653Tyr)
c.5093G>A (p.Cys1698Tyr)
c.5084G>A (p.Cys1695Tyr)
c.5075G>A (p.Cys1692Tyr)
c.4961G>A (p.Cys1654Tyr)
c.2945G>A (p.Cys982Tyr)
c.635G>A (p.Cys212Tyr)
n.5334G>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
18g.23876361G>CCA402044990LAMA3c.239G>C (p.Cys80Ser)
c.5066G>C (p.Cys1689Ser)
c.1958G>C (p.Cys653Ser)
c.5093G>C (p.Cys1698Ser)
c.5084G>C (p.Cys1695Ser)
c.5075G>C (p.Cys1692Ser)
c.4961G>C (p.Cys1654Ser)
c.2945G>C (p.Cys982Ser)
c.635G>C (p.Cys212Ser)
n.5334G>C
 gnomAD v4
18g.23876361G=CA2290312349LAMA3c.239G= (p.Cys80=)
c.5066G= (p.Cys1689=)
c.1958G= (p.Cys653=)
c.5093G= (p.Cys1698=)
c.5084G= (p.Cys1695=)
c.5075G= (p.Cys1692=)
c.4961G= (p.Cys1654=)
c.2945G= (p.Cys982=)
c.635G= (p.Cys212=)
n.5334G=
18g.23876361G>TCA402044991LAMA3c.239G>T (p.Cys80Phe)
c.5066G>T (p.Cys1689Phe)
c.1958G>T (p.Cys653Phe)
c.5093G>T (p.Cys1698Phe)
c.5084G>T (p.Cys1695Phe)
c.5075G>T (p.Cys1692Phe)
c.4961G>T (p.Cys1654Phe)
c.2945G>T (p.Cys982Phe)
c.635G>T (p.Cys212Phe)
n.5334G>T
18g.23876362C>ACA402044992LAMA3c.240C>A (p.Cys80Ter)
c.5067C>A (p.Cys1689Ter)
c.1959C>A (p.Cys653Ter)
c.5094C>A (p.Cys1698Ter)
c.5085C>A (p.Cys1695Ter)
c.5076C>A (p.Cys1692Ter)
c.4962C>A (p.Cys1654Ter)
c.2946C>A (p.Cys982Ter)
c.636C>A (p.Cys212Ter)
n.5335C>A
18g.23876362C>GCA402044993LAMA3c.240C>G (p.Cys80Trp)
c.5067C>G (p.Cys1689Trp)
c.1959C>G (p.Cys653Trp)
c.5094C>G (p.Cys1698Trp)
c.5085C>G (p.Cys1695Trp)
c.5076C>G (p.Cys1692Trp)
c.4962C>G (p.Cys1654Trp)
c.2946C>G (p.Cys982Trp)
c.636C>G (p.Cys212Trp)
n.5335C>G
18g.23876362C>TCA503327902LAMA3c.240C>T (p.Cys80=)
c.5067C>T (p.Cys1689=)
c.1959C>T (p.Cys653=)
c.5094C>T (p.Cys1698=)
c.5085C>T (p.Cys1695=)
c.5076C>T (p.Cys1692=)
c.4962C>T (p.Cys1654=)
c.2946C>T (p.Cys982=)
c.636C>T (p.Cys212=)
n.5335C>T
18g.23876363A>CCA402044994LAMA3c.241A>C (p.Asn81His)
c.5068A>C (p.Asn1690His)
c.1960A>C (p.Asn654His)
c.5095A>C (p.Asn1699His)
c.5086A>C (p.Asn1696His)
c.5077A>C (p.Asn1693His)
c.4963A>C (p.Asn1655His)
c.2947A>C (p.Asn983His)
c.637A>C (p.Asn213His)
n.5336A>C
18g.23876363A>GCA402044995LAMA3c.241A>G (p.Asn81Asp)
c.5068A>G (p.Asn1690Asp)
c.1960A>G (p.Asn654Asp)
c.5095A>G (p.Asn1699Asp)
c.5086A>G (p.Asn1696Asp)
c.5077A>G (p.Asn1693Asp)
c.4963A>G (p.Asn1655Asp)
c.2947A>G (p.Asn983Asp)
c.637A>G (p.Asn213Asp)
n.5336A>G
18g.23876363A>TCA402044996LAMA3c.241A>T (p.Asn81Tyr)
c.5068A>T (p.Asn1690Tyr)
c.1960A>T (p.Asn654Tyr)
c.5095A>T (p.Asn1699Tyr)
c.5086A>T (p.Asn1696Tyr)
c.5077A>T (p.Asn1693Tyr)
c.4963A>T (p.Asn1655Tyr)
c.2947A>T (p.Asn983Tyr)
c.637A>T (p.Asn213Tyr)
n.5336A>T
18g.23876364A>CCA402044999LAMA3c.242A>C (p.Asn81Thr)
c.5069A>C (p.Asn1690Thr)
c.1961A>C (p.Asn654Thr)
c.5096A>C (p.Asn1699Thr)
c.5087A>C (p.Asn1696Thr)
c.5078A>C (p.Asn1693Thr)
c.4964A>C (p.Asn1655Thr)
c.2948A>C (p.Asn983Thr)
c.638A>C (p.Asn213Thr)
n.5337A>C
18g.23876364A>GCA402044997LAMA3c.242A>G (p.Asn81Ser)
c.5069A>G (p.Asn1690Ser)
c.1961A>G (p.Asn654Ser)
c.5096A>G (p.Asn1699Ser)
c.5087A>G (p.Asn1696Ser)
c.5078A>G (p.Asn1693Ser)
c.4964A>G (p.Asn1655Ser)
c.2948A>G (p.Asn983Ser)
c.638A>G (p.Asn213Ser)
n.5337A>G
18g.23876364A>TCA402044998LAMA3c.242A>T (p.Asn81Ile)
c.5069A>T (p.Asn1690Ile)
c.1961A>T (p.Asn654Ile)
c.5096A>T (p.Asn1699Ile)
c.5087A>T (p.Asn1696Ile)
c.5078A>T (p.Asn1693Ile)
c.4964A>T (p.Asn1655Ile)
c.2948A>T (p.Asn983Ile)
c.638A>T (p.Asn213Ile)
n.5337A>T
18g.23876365C>ACA402045000LAMA3c.243C>A (p.Asn81Lys)
c.5070C>A (p.Asn1690Lys)
c.1962C>A (p.Asn654Lys)
c.5097C>A (p.Asn1699Lys)
c.5088C>A (p.Asn1696Lys)
c.5079C>A (p.Asn1693Lys)
c.4965C>A (p.Asn1655Lys)
c.2949C>A (p.Asn983Lys)
c.639C>A (p.Asn213Lys)
n.5338C>A
18g.23876365C=CA2290312350LAMA3c.243C= (p.Asn81=)
c.5070C= (p.Asn1690=)
c.1962C= (p.Asn654=)
c.5097C= (p.Asn1699=)
c.5088C= (p.Asn1696=)
c.5079C= (p.Asn1693=)
c.4965C= (p.Asn1655=)
c.2949C= (p.Asn983=)
c.639C= (p.Asn213=)
n.5338C=
18g.23876365C>GCA402045001LAMA3c.243C>G (p.Asn81Lys)
c.5070C>G (p.Asn1690Lys)
c.1962C>G (p.Asn654Lys)
c.5097C>G (p.Asn1699Lys)
c.5088C>G (p.Asn1696Lys)
c.5079C>G (p.Asn1693Lys)
c.4965C>G (p.Asn1655Lys)
c.2949C>G (p.Asn983Lys)
c.639C>G (p.Asn213Lys)
n.5338C>G
18g.23876365C>TCA8915879LAMA3c.243C>T (p.Asn81=)
c.5070C>T (p.Asn1690=)
c.1962C>T (p.Asn654=)
c.5097C>T (p.Asn1699=)
c.5088C>T (p.Asn1696=)
c.5079C>T (p.Asn1693=)
c.4965C>T (p.Asn1655=)
c.2949C>T (p.Asn983=)
c.639C>T (p.Asn213=)
n.5338C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23876366G>ACA402045002LAMA3c.244G>A (p.Gly82Arg)
c.5071G>A (p.Gly1691Arg)
c.1963G>A (p.Gly655Arg)
c.5098G>A (p.Gly1700Arg)
c.5089G>A (p.Gly1697Arg)
c.5080G>A (p.Gly1694Arg)
c.4966G>A (p.Gly1656Arg)
c.2950G>A (p.Gly984Arg)
c.640G>A (p.Gly214Arg)
n.5339G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
18g.23876366G>CCA402045003LAMA3c.244G>C (p.Gly82Arg)
c.5071G>C (p.Gly1691Arg)
c.1963G>C (p.Gly655Arg)
c.5098G>C (p.Gly1700Arg)
c.5089G>C (p.Gly1697Arg)
c.5080G>C (p.Gly1694Arg)
c.4966G>C (p.Gly1656Arg)
c.2950G>C (p.Gly984Arg)
c.640G>C (p.Gly214Arg)
n.5339G>C
18g.23876366G=CA2290312351LAMA3c.244G= (p.Gly82=)
c.5071G= (p.Gly1691=)
c.1963G= (p.Gly655=)
c.5098G= (p.Gly1700=)
c.5089G= (p.Gly1697=)
c.5080G= (p.Gly1694=)
c.4966G= (p.Gly1656=)
c.2950G= (p.Gly984=)
c.640G= (p.Gly214=)
n.5339G=
18g.23876366G>TCA402045004LAMA3c.244G>T (p.Gly82Ter)
c.5071G>T (p.Gly1691Ter)
c.1963G>T (p.Gly655Ter)
c.5098G>T (p.Gly1700Ter)
c.5089G>T (p.Gly1697Ter)
c.5080G>T (p.Gly1694Ter)
c.4966G>T (p.Gly1656Ter)
c.2950G>T (p.Gly984Ter)
c.640G>T (p.Gly214Ter)
n.5339G>T
18g.23876367_23876368insGGGCA658824968LAMA3c.245_246insGGG (p.Gly82_His83insGly)
c.5072_5073insGGG (p.Gly1691_His1692insGly)
c.1964_1965insGGG (p.Gly655_His656insGly)
c.5099_5100insGGG (p.Gly1700_His1701insGly)
c.5090_5091insGGG (p.Gly1697_His1698insGly)
c.5081_5082insGGG (p.Gly1694_His1695insGly)
c.4967_4968insGGG (p.Gly1656_His1657insGly)
c.2951_2952insGGG (p.Gly984_His985insGly)
c.641_642insGGG (p.Gly214_His215insGly)
n.5340_5341insGGG
 ClinVar dbSNP
18g.23876367G>ACA402045005LAMA3c.245G>A (p.Gly82Glu)
c.5072G>A (p.Gly1691Glu)
c.1964G>A (p.Gly655Glu)
c.5099G>A (p.Gly1700Glu)
c.5090G>A (p.Gly1697Glu)
c.5081G>A (p.Gly1694Glu)
c.4967G>A (p.Gly1656Glu)
c.2951G>A (p.Gly984Glu)
c.641G>A (p.Gly214Glu)
n.5340G>A
18g.23876367G>CCA402045006LAMA3c.245G>C (p.Gly82Ala)
c.5072G>C (p.Gly1691Ala)
c.1964G>C (p.Gly655Ala)
c.5099G>C (p.Gly1700Ala)
c.5090G>C (p.Gly1697Ala)
c.5081G>C (p.Gly1694Ala)
c.4967G>C (p.Gly1656Ala)
c.2951G>C (p.Gly984Ala)
c.641G>C (p.Gly214Ala)
n.5340G>C
18g.23876367G>TCA402045007LAMA3c.245G>T (p.Gly82Val)
c.5072G>T (p.Gly1691Val)
c.1964G>T (p.Gly655Val)
c.5099G>T (p.Gly1700Val)
c.5090G>T (p.Gly1697Val)
c.5081G>T (p.Gly1694Val)
c.4967G>T (p.Gly1656Val)
c.2951G>T (p.Gly984Val)
c.641G>T (p.Gly214Val)
n.5340G>T
18g.23876368A>CCA503327909LAMA3c.246A>C (p.Gly82=)
c.5073A>C (p.Gly1691=)
c.1965A>C (p.Gly655=)
c.5100A>C (p.Gly1700=)
c.5091A>C (p.Gly1697=)
c.5082A>C (p.Gly1694=)
c.4968A>C (p.Gly1656=)
c.2952A>C (p.Gly984=)
c.642A>C (p.Gly214=)
n.5341A>C
 ClinVar
18g.23876368A>GCA503327910LAMA3c.246A>G (p.Gly82=)
c.5073A>G (p.Gly1691=)
c.1965A>G (p.Gly655=)
c.5100A>G (p.Gly1700=)
c.5091A>G (p.Gly1697=)
c.5082A>G (p.Gly1694=)
c.4968A>G (p.Gly1656=)
c.2952A>G (p.Gly984=)
c.642A>G (p.Gly214=)
n.5341A>G
 gnomAD v4
18g.23876368A>TCA503327911LAMA3c.246A>T (p.Gly82=)
c.5073A>T (p.Gly1691=)
c.1965A>T (p.Gly655=)
c.5100A>T (p.Gly1700=)
c.5091A>T (p.Gly1697=)
c.5082A>T (p.Gly1694=)
c.4968A>T (p.Gly1656=)
c.2952A>T (p.Gly984=)
c.642A>T (p.Gly214=)
n.5341A>T
18g.23876369C>ACA402045008LAMA3c.247C>A (p.His83Asn)
c.5074C>A (p.His1692Asn)
c.1966C>A (p.His656Asn)
c.5101C>A (p.His1701Asn)
c.5092C>A (p.His1698Asn)
c.5083C>A (p.His1695Asn)
c.4969C>A (p.His1657Asn)
c.2953C>A (p.His985Asn)
c.643C>A (p.His215Asn)
n.5342C>A
 gnomAD v4
18g.23876369C>GCA402045009LAMA3c.247C>G (p.His83Asp)
c.5074C>G (p.His1692Asp)
c.1966C>G (p.His656Asp)
c.5101C>G (p.His1701Asp)
c.5092C>G (p.His1698Asp)
c.5083C>G (p.His1695Asp)
c.4969C>G (p.His1657Asp)
c.2953C>G (p.His985Asp)
c.643C>G (p.His215Asp)
n.5342C>G
18g.23876369C>TCA402045010LAMA3c.247C>T (p.His83Tyr)
c.5074C>T (p.His1692Tyr)
c.1966C>T (p.His656Tyr)
c.5101C>T (p.His1701Tyr)
c.5092C>T (p.His1698Tyr)
c.5083C>T (p.His1695Tyr)
c.4969C>T (p.His1657Tyr)
c.2953C>T (p.His985Tyr)
c.643C>T (p.His215Tyr)
n.5342C>T
18g.23876370A=CA2290312352LAMA3c.248A= (p.His83=)
c.5075A= (p.His1692=)
c.1967A= (p.His656=)
c.5102A= (p.His1701=)
c.5093A= (p.His1698=)
c.5084A= (p.His1695=)
c.4970A= (p.His1657=)
c.2954A= (p.His985=)
c.644A= (p.His215=)
n.5343A=
18g.23876370A>CCA402045011LAMA3c.248A>C (p.His83Pro)
c.5075A>C (p.His1692Pro)
c.1967A>C (p.His656Pro)
c.5102A>C (p.His1701Pro)
c.5093A>C (p.His1698Pro)
c.5084A>C (p.His1695Pro)
c.4970A>C (p.His1657Pro)
c.2954A>C (p.His985Pro)
c.644A>C (p.His215Pro)
n.5343A>C
18g.23876370A>GCA8915880LAMA3c.248A>G (p.His83Arg)
c.5075A>G (p.His1692Arg)
c.1967A>G (p.His656Arg)
c.5102A>G (p.His1701Arg)
c.5093A>G (p.His1698Arg)
c.5084A>G (p.His1695Arg)
c.4970A>G (p.His1657Arg)
c.2954A>G (p.His985Arg)
c.644A>G (p.His215Arg)
n.5343A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23876370A>TCA402045012LAMA3c.248A>T (p.His83Leu)
c.5075A>T (p.His1692Leu)
c.1967A>T (p.His656Leu)
c.5102A>T (p.His1701Leu)
c.5093A>T (p.His1698Leu)
c.5084A>T (p.His1695Leu)
c.4970A>T (p.His1657Leu)
c.2954A>T (p.His985Leu)
c.644A>T (p.His215Leu)
n.5343A>T
18g.23876370_23876386delCA2739268583LAMA3c.248_264del (p.His83ArgfsTer8)
c.5075_5091del (p.His1692ArgfsTer8)
c.1967_1983del (p.His656ArgfsTer8)
c.5102_5118del (p.His1701ArgfsTer8)
c.5093_5109del (p.His1698ArgfsTer8)
c.5084_5100del (p.His1695ArgfsTer8)
c.4970_4986del (p.His1657ArgfsTer8)
c.2954_2970del (p.His985ArgfsTer8)
c.644_660del (p.His215ArgfsTer8)
n.5343_5359del
 ClinVar
18g.23876371T>ACA402045013LAMA3c.249T>A (p.His83Gln)
c.5076T>A (p.His1692Gln)
c.1968T>A (p.His656Gln)
c.5103T>A (p.His1701Gln)
c.5094T>A (p.His1698Gln)
c.5085T>A (p.His1695Gln)
c.4971T>A (p.His1657Gln)
c.2955T>A (p.His985Gln)
c.645T>A (p.His215Gln)
n.5344T>A
18g.23876371T>CCA503327915LAMA3c.249T>C (p.His83=)
c.5076T>C (p.His1692=)
c.1968T>C (p.His656=)
c.5103T>C (p.His1701=)
c.5094T>C (p.His1698=)
c.5085T>C (p.His1695=)
c.4971T>C (p.His1657=)
c.2955T>C (p.His985=)
c.645T>C (p.His215=)
n.5344T>C
18g.23876371T>GCA402045014LAMA3c.249T>G (p.His83Gln)
c.5076T>G (p.His1692Gln)
c.1968T>G (p.His656Gln)
c.5103T>G (p.His1701Gln)
c.5094T>G (p.His1698Gln)
c.5085T>G (p.His1695Gln)
c.4971T>G (p.His1657Gln)
c.2955T>G (p.His985Gln)
c.645T>G (p.His215Gln)
n.5344T>G
18g.23876372T>ACA402045015LAMA3c.250T>A (p.Ser84Thr)
c.5077T>A (p.Ser1693Thr)
c.1969T>A (p.Ser657Thr)
c.5104T>A (p.Ser1702Thr)
c.5095T>A (p.Ser1699Thr)
c.5086T>A (p.Ser1696Thr)
c.4972T>A (p.Ser1658Thr)
c.2956T>A (p.Ser986Thr)
c.646T>A (p.Ser216Thr)
n.5345T>A
18g.23876372T>CCA402045016LAMA3c.250T>C (p.Ser84Pro)
c.5077T>C (p.Ser1693Pro)
c.1969T>C (p.Ser657Pro)
c.5104T>C (p.Ser1702Pro)
c.5095T>C (p.Ser1699Pro)
c.5086T>C (p.Ser1696Pro)
c.4972T>C (p.Ser1658Pro)
c.2956T>C (p.Ser986Pro)
c.646T>C (p.Ser216Pro)
n.5345T>C
18g.23876372T>GCA402045017LAMA3c.250T>G (p.Ser84Ala)
c.5077T>G (p.Ser1693Ala)
c.1969T>G (p.Ser657Ala)
c.5104T>G (p.Ser1702Ala)
c.5095T>G (p.Ser1699Ala)
c.5086T>G (p.Ser1696Ala)
c.4972T>G (p.Ser1658Ala)
c.2956T>G (p.Ser986Ala)
c.646T>G (p.Ser216Ala)
n.5345T>G
18g.23876373C>ACA402045018LAMA3c.251C>A (p.Ser84Ter)
c.5078C>A (p.Ser1693Ter)
c.1970C>A (p.Ser657Ter)
c.5105C>A (p.Ser1702Ter)
c.5096C>A (p.Ser1699Ter)
c.5087C>A (p.Ser1696Ter)
c.4973C>A (p.Ser1658Ter)
c.2957C>A (p.Ser986Ter)
c.647C>A (p.Ser216Ter)
n.5346C>A
18g.23876373C=CA2290312353LAMA3c.251C= (p.Ser84=)
c.5078C= (p.Ser1693=)
c.1970C= (p.Ser657=)
c.5105C= (p.Ser1702=)
c.5096C= (p.Ser1699=)
c.5087C= (p.Ser1696=)
c.4973C= (p.Ser1658=)
c.2957C= (p.Ser986=)
c.647C= (p.Ser216=)
n.5346C=
18g.23876373C>GCA402045019LAMA3c.251C>G (p.Ser84Ter)
c.5078C>G (p.Ser1693Ter)
c.1970C>G (p.Ser657Ter)
c.5105C>G (p.Ser1702Ter)
c.5096C>G (p.Ser1699Ter)
c.5087C>G (p.Ser1696Ter)
c.4973C>G (p.Ser1658Ter)
c.2957C>G (p.Ser986Ter)
c.647C>G (p.Ser216Ter)
n.5346C>G
 dbSNP gnomAD v4
18g.23876373C>TCA402045020LAMA3c.251C>T (p.Ser84Leu)
c.5078C>T (p.Ser1693Leu)
c.1970C>T (p.Ser657Leu)
c.5105C>T (p.Ser1702Leu)
c.5096C>T (p.Ser1699Leu)
c.5087C>T (p.Ser1696Leu)
c.4973C>T (p.Ser1658Leu)
c.2957C>T (p.Ser986Leu)
c.647C>T (p.Ser216Leu)
n.5346C>T
18g.23876374A=CA2290312354LAMA3c.252A= (p.Ser84=)
c.5079A= (p.Ser1693=)
c.1971A= (p.Ser657=)
c.5106A= (p.Ser1702=)
c.5097A= (p.Ser1699=)
c.5088A= (p.Ser1696=)
c.4974A= (p.Ser1658=)
c.2958A= (p.Ser986=)
c.648A= (p.Ser216=)
n.5347A=
18g.23876374A>CCA503327917LAMA3c.252A>C (p.Ser84=)
c.5079A>C (p.Ser1693=)
c.1971A>C (p.Ser657=)
c.5106A>C (p.Ser1702=)
c.5097A>C (p.Ser1699=)
c.5088A>C (p.Ser1696=)
c.4974A>C (p.Ser1658=)
c.2958A>C (p.Ser986=)
c.648A>C (p.Ser216=)
n.5347A>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.23876374A>GCA503327918LAMA3c.252A>G (p.Ser84=)
c.5079A>G (p.Ser1693=)
c.1971A>G (p.Ser657=)
c.5106A>G (p.Ser1702=)
c.5097A>G (p.Ser1699=)
c.5088A>G (p.Ser1696=)
c.4974A>G (p.Ser1658=)
c.2958A>G (p.Ser986=)
c.648A>G (p.Ser216=)
n.5347A>G
18g.23876374A>TCA503327919LAMA3c.252A>T (p.Ser84=)
c.5079A>T (p.Ser1693=)
c.1971A>T (p.Ser657=)
c.5106A>T (p.Ser1702=)
c.5097A>T (p.Ser1699=)
c.5088A>T (p.Ser1696=)
c.4974A>T (p.Ser1658=)
c.2958A>T (p.Ser986=)
c.648A>T (p.Ser216=)
n.5347A>T
 ClinVar dbSNP gnomAD v4
18g.23876375A=CA2290312355LAMA3c.253A= (p.Asn85=)
c.5080A= (p.Asn1694=)
c.1972A= (p.Asn658=)
c.5107A= (p.Asn1703=)
c.5098A= (p.Asn1700=)
c.5089A= (p.Asn1697=)
c.4975A= (p.Asn1659=)
c.2959A= (p.Asn987=)
c.649A= (p.Asn217=)
n.5348A=
18g.23876375A>CCA402045021LAMA3c.253A>C (p.Asn85His)
c.5080A>C (p.Asn1694His)
c.1972A>C (p.Asn658His)
c.5107A>C (p.Asn1703His)
c.5098A>C (p.Asn1700His)
c.5089A>C (p.Asn1697His)
c.4975A>C (p.Asn1659His)
c.2959A>C (p.Asn987His)
c.649A>C (p.Asn217His)
n.5348A>C
 dbSNP
18g.23876375A>GCA8915881LAMA3c.253A>G (p.Asn85Asp)
c.5080A>G (p.Asn1694Asp)
c.1972A>G (p.Asn658Asp)
c.5107A>G (p.Asn1703Asp)
c.5098A>G (p.Asn1700Asp)
c.5089A>G (p.Asn1697Asp)
c.4975A>G (p.Asn1659Asp)
c.2959A>G (p.Asn987Asp)
c.649A>G (p.Asn217Asp)
n.5348A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23876375A>TCA402045022LAMA3c.253A>T (p.Asn85Tyr)
c.5080A>T (p.Asn1694Tyr)
c.1972A>T (p.Asn658Tyr)
c.5107A>T (p.Asn1703Tyr)
c.5098A>T (p.Asn1700Tyr)
c.5089A>T (p.Asn1697Tyr)
c.4975A>T (p.Asn1659Tyr)
c.2959A>T (p.Asn987Tyr)
c.649A>T (p.Asn217Tyr)
n.5348A>T
18g.23876376A=CA2290312356LAMA3c.254A= (p.Asn85=)
c.5081A= (p.Asn1694=)
c.1973A= (p.Asn658=)
c.5108A= (p.Asn1703=)
c.5099A= (p.Asn1700=)
c.5090A= (p.Asn1697=)
c.4976A= (p.Asn1659=)
c.2960A= (p.Asn987=)
c.650A= (p.Asn217=)
n.5349A=
18g.23876376A>CCA402045023LAMA3c.254A>C (p.Asn85Thr)
c.5081A>C (p.Asn1694Thr)
c.1973A>C (p.Asn658Thr)
c.5108A>C (p.Asn1703Thr)
c.5099A>C (p.Asn1700Thr)
c.5090A>C (p.Asn1697Thr)
c.4976A>C (p.Asn1659Thr)
c.2960A>C (p.Asn987Thr)
c.650A>C (p.Asn217Thr)
n.5349A>C
18g.23876376A>GCA8915882LAMA3c.254A>G (p.Asn85Ser)
c.5081A>G (p.Asn1694Ser)
c.1973A>G (p.Asn658Ser)
c.5108A>G (p.Asn1703Ser)
c.5099A>G (p.Asn1700Ser)
c.5090A>G (p.Asn1697Ser)
c.4976A>G (p.Asn1659Ser)
c.2960A>G (p.Asn987Ser)
c.650A>G (p.Asn217Ser)
n.5349A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23876376A>TCA402045024LAMA3c.254A>T (p.Asn85Ile)
c.5081A>T (p.Asn1694Ile)
c.1973A>T (p.Asn658Ile)
c.5108A>T (p.Asn1703Ile)
c.5099A>T (p.Asn1700Ile)
c.5090A>T (p.Asn1697Ile)
c.4976A>T (p.Asn1659Ile)
c.2960A>T (p.Asn987Ile)
c.650A>T (p.Asn217Ile)
n.5349A>T
18g.23876377T>ACA402045026LAMA3c.255T>A (p.Asn85Lys)
c.5082T>A (p.Asn1694Lys)
c.1974T>A (p.Asn658Lys)
c.5109T>A (p.Asn1703Lys)
c.5100T>A (p.Asn1700Lys)
c.5091T>A (p.Asn1697Lys)
c.4977T>A (p.Asn1659Lys)
c.2961T>A (p.Asn987Lys)
c.651T>A (p.Asn217Lys)
n.5350T>A
 gnomAD v4
18g.23876377T>CCA503327924LAMA3c.255T>C (p.Asn85=)
c.5082T>C (p.Asn1694=)
c.1974T>C (p.Asn658=)
c.5109T>C (p.Asn1703=)
c.5100T>C (p.Asn1700=)
c.5091T>C (p.Asn1697=)
c.4977T>C (p.Asn1659=)
c.2961T>C (p.Asn987=)
c.651T>C (p.Asn217=)
n.5350T>C
 ClinVar
18g.23876377T>GCA402045025LAMA3c.255T>G (p.Asn85Lys)
c.5082T>G (p.Asn1694Lys)
c.1974T>G (p.Asn658Lys)
c.5109T>G (p.Asn1703Lys)
c.5100T>G (p.Asn1700Lys)
c.5091T>G (p.Asn1697Lys)
c.4977T>G (p.Asn1659Lys)
c.2961T>G (p.Asn987Lys)
c.651T>G (p.Asn217Lys)
n.5350T>G
18g.23876378C>ACA402045027LAMA3c.256C>A (p.Gln86Lys)
c.5083C>A (p.Gln1695Lys)
c.1975C>A (p.Gln659Lys)
c.5110C>A (p.Gln1704Lys)
c.5101C>A (p.Gln1701Lys)
c.5092C>A (p.Gln1698Lys)
c.4978C>A (p.Gln1660Lys)
c.2962C>A (p.Gln988Lys)
c.652C>A (p.Gln218Lys)
n.5351C>A
 gnomAD v4
18g.23876378C>GCA402045028LAMA3c.256C>G (p.Gln86Glu)
c.5083C>G (p.Gln1695Glu)
c.1975C>G (p.Gln659Glu)
c.5110C>G (p.Gln1704Glu)
c.5101C>G (p.Gln1701Glu)
c.5092C>G (p.Gln1698Glu)
c.4978C>G (p.Gln1660Glu)
c.2962C>G (p.Gln988Glu)
c.652C>G (p.Gln218Glu)
n.5351C>G
18g.23876378C>TCA402045029LAMA3c.256C>T (p.Gln86Ter)
c.5083C>T (p.Gln1695Ter)
c.1975C>T (p.Gln659Ter)
c.5110C>T (p.Gln1704Ter)
c.5101C>T (p.Gln1701Ter)
c.5092C>T (p.Gln1698Ter)
c.4978C>T (p.Gln1660Ter)
c.2962C>T (p.Gln988Ter)
c.652C>T (p.Gln218Ter)
n.5351C>T
18g.23876379A=CA2290312357LAMA3c.257A= (p.Gln86=)
c.5084A= (p.Gln1695=)
c.1976A= (p.Gln659=)
c.5111A= (p.Gln1704=)
c.5102A= (p.Gln1701=)
c.5093A= (p.Gln1698=)
c.4979A= (p.Gln1660=)
c.2963A= (p.Gln988=)
c.653A= (p.Gln218=)
n.5352A=
18g.23876379A>CCA402045030LAMA3c.257A>C (p.Gln86Pro)
c.5084A>C (p.Gln1695Pro)
c.1976A>C (p.Gln659Pro)
c.5111A>C (p.Gln1704Pro)
c.5102A>C (p.Gln1701Pro)
c.5093A>C (p.Gln1698Pro)
c.4979A>C (p.Gln1660Pro)
c.2963A>C (p.Gln988Pro)
c.653A>C (p.Gln218Pro)
n.5352A>C
18g.23876379A>GCA402045031LAMA3c.257A>G (p.Gln86Arg)
c.5084A>G (p.Gln1695Arg)
c.1976A>G (p.Gln659Arg)
c.5111A>G (p.Gln1704Arg)
c.5102A>G (p.Gln1701Arg)
c.5093A>G (p.Gln1698Arg)
c.4979A>G (p.Gln1660Arg)
c.2963A>G (p.Gln988Arg)
c.653A>G (p.Gln218Arg)
n.5352A>G
 dbSNP gnomAD v4
18g.23876379A>TCA402045032LAMA3c.257A>T (p.Gln86Leu)
c.5084A>T (p.Gln1695Leu)
c.1976A>T (p.Gln659Leu)
c.5111A>T (p.Gln1704Leu)
c.5102A>T (p.Gln1701Leu)
c.5093A>T (p.Gln1698Leu)
c.4979A>T (p.Gln1660Leu)
c.2963A>T (p.Gln988Leu)
c.653A>T (p.Gln218Leu)
n.5352A>T
 dbSNP gnomAD v3 gnomAD v4
18g.23876380A=CA2290312358LAMA3c.258A= (p.Gln86=)
c.5085A= (p.Gln1695=)
c.1977A= (p.Gln659=)
c.5112A= (p.Gln1704=)
c.5103A= (p.Gln1701=)
c.5094A= (p.Gln1698=)
c.4980A= (p.Gln1660=)
c.2964A= (p.Gln988=)
c.654A= (p.Gln218=)
n.5353A=
18g.23876380A>CCA402045033LAMA3c.258A>C (p.Gln86His)
c.5085A>C (p.Gln1695His)
c.1977A>C (p.Gln659His)
c.5112A>C (p.Gln1704His)
c.5103A>C (p.Gln1701His)
c.5094A>C (p.Gln1698His)
c.4980A>C (p.Gln1660His)
c.2964A>C (p.Gln988His)
c.654A>C (p.Gln218His)
n.5353A>C
18g.23876380A>GCA8915883LAMA3c.258A>G (p.Gln86=)
c.5085A>G (p.Gln1695=)
c.1977A>G (p.Gln659=)
c.5112A>G (p.Gln1704=)
c.5103A>G (p.Gln1701=)
c.5094A>G (p.Gln1698=)
c.4980A>G (p.Gln1660=)
c.2964A>G (p.Gln988=)
c.654A>G (p.Gln218=)
n.5353A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23876380A>TCA402045034LAMA3c.258A>T (p.Gln86His)
c.5085A>T (p.Gln1695His)
c.1977A>T (p.Gln659His)
c.5112A>T (p.Gln1704His)
c.5103A>T (p.Gln1701His)
c.5094A>T (p.Gln1698His)
c.4980A>T (p.Gln1660His)
c.2964A>T (p.Gln988His)
c.654A>T (p.Gln218His)
n.5353A>T
 dbSNP
18g.23876381T>ACA402045035LAMA3c.259T>A (p.Cys87Ser)
c.5086T>A (p.Cys1696Ser)
c.1978T>A (p.Cys660Ser)
c.5113T>A (p.Cys1705Ser)
c.5104T>A (p.Cys1702Ser)
c.5095T>A (p.Cys1699Ser)
c.4981T>A (p.Cys1661Ser)
c.2965T>A (p.Cys989Ser)
c.655T>A (p.Cys219Ser)
n.5354T>A
18g.23876381T>CCA402045036LAMA3c.259T>C (p.Cys87Arg)
c.5086T>C (p.Cys1696Arg)
c.1978T>C (p.Cys660Arg)
c.5113T>C (p.Cys1705Arg)
c.5104T>C (p.Cys1702Arg)
c.5095T>C (p.Cys1699Arg)
c.4981T>C (p.Cys1661Arg)
c.2965T>C (p.Cys989Arg)
c.655T>C (p.Cys219Arg)
n.5354T>C
 gnomAD v4
18g.23876381T>GCA402045037LAMA3c.259T>G (p.Cys87Gly)
c.5086T>G (p.Cys1696Gly)
c.1978T>G (p.Cys660Gly)
c.5113T>G (p.Cys1705Gly)
c.5104T>G (p.Cys1702Gly)
c.5095T>G (p.Cys1699Gly)
c.4981T>G (p.Cys1661Gly)
c.2965T>G (p.Cys989Gly)
c.655T>G (p.Cys219Gly)
n.5354T>G
18g.23876382G>ACA402045040LAMA3c.260G>A (p.Cys87Tyr)
c.5087G>A (p.Cys1696Tyr)
c.1979G>A (p.Cys660Tyr)
c.5114G>A (p.Cys1705Tyr)
c.5105G>A (p.Cys1702Tyr)
c.5096G>A (p.Cys1699Tyr)
c.4982G>A (p.Cys1661Tyr)
c.2966G>A (p.Cys989Tyr)
c.656G>A (p.Cys219Tyr)
n.5355G>A
18g.23876382G>CCA402045039LAMA3c.260G>C (p.Cys87Ser)
c.5087G>C (p.Cys1696Ser)
c.1979G>C (p.Cys660Ser)
c.5114G>C (p.Cys1705Ser)
c.5105G>C (p.Cys1702Ser)
c.5096G>C (p.Cys1699Ser)
c.4982G>C (p.Cys1661Ser)
c.2966G>C (p.Cys989Ser)
c.656G>C (p.Cys219Ser)
n.5355G>C
18g.23876382G>TCA402045038LAMA3c.260G>T (p.Cys87Phe)
c.5087G>T (p.Cys1696Phe)
c.1979G>T (p.Cys660Phe)
c.5114G>T (p.Cys1705Phe)
c.5105G>T (p.Cys1702Phe)
c.5096G>T (p.Cys1699Phe)
c.4982G>T (p.Cys1661Phe)
c.2966G>T (p.Cys989Phe)
c.656G>T (p.Cys219Phe)
n.5355G>T
18g.23876383C>ACA402045041LAMA3c.261C>A (p.Cys87Ter)
c.5088C>A (p.Cys1696Ter)
c.1980C>A (p.Cys660Ter)
c.5115C>A (p.Cys1705Ter)
c.5106C>A (p.Cys1702Ter)
c.5097C>A (p.Cys1699Ter)
c.4983C>A (p.Cys1661Ter)
c.2967C>A (p.Cys989Ter)
c.657C>A (p.Cys219Ter)
n.5356C>A
 gnomAD v4
18g.23876383C>GCA402045042LAMA3c.261C>G (p.Cys87Trp)
c.5088C>G (p.Cys1696Trp)
c.1980C>G (p.Cys660Trp)
c.5115C>G (p.Cys1705Trp)
c.5106C>G (p.Cys1702Trp)
c.5097C>G (p.Cys1699Trp)
c.4983C>G (p.Cys1661Trp)
c.2967C>G (p.Cys989Trp)
c.657C>G (p.Cys219Trp)
n.5356C>G
18g.23876383C>TCA503327927LAMA3c.261C>T (p.Cys87=)
c.5088C>T (p.Cys1696=)
c.1980C>T (p.Cys660=)
c.5115C>T (p.Cys1705=)
c.5106C>T (p.Cys1702=)
c.5097C>T (p.Cys1699=)
c.4983C>T (p.Cys1661=)
c.2967C>T (p.Cys989=)
c.657C>T (p.Cys219=)
n.5356C>T
 gnomAD v4
18g.23876384C>ACA402045043LAMA3c.262C>A (p.Gln88Lys)
c.5089C>A (p.Gln1697Lys)
c.1981C>A (p.Gln661Lys)
c.5116C>A (p.Gln1706Lys)
c.5107C>A (p.Gln1703Lys)
c.5098C>A (p.Gln1700Lys)
c.4984C>A (p.Gln1662Lys)
c.2968C>A (p.Gln990Lys)
c.658C>A (p.Gln220Lys)
n.5357C>A
18g.23876384C>GCA402045044LAMA3c.262C>G (p.Gln88Glu)
c.5089C>G (p.Gln1697Glu)
c.1981C>G (p.Gln661Glu)
c.5116C>G (p.Gln1706Glu)
c.5107C>G (p.Gln1703Glu)
c.5098C>G (p.Gln1700Glu)
c.4984C>G (p.Gln1662Glu)
c.2968C>G (p.Gln990Glu)
c.658C>G (p.Gln220Glu)
n.5357C>G
18g.23876384C>TCA402045045LAMA3c.262C>T (p.Gln88Ter)
c.5089C>T (p.Gln1697Ter)
c.1981C>T (p.Gln661Ter)
c.5116C>T (p.Gln1706Ter)
c.5107C>T (p.Gln1703Ter)
c.5098C>T (p.Gln1700Ter)
c.4984C>T (p.Gln1662Ter)
c.2968C>T (p.Gln990Ter)
c.658C>T (p.Gln220Ter)
n.5357C>T
18g.23876385A>CCA402045046LAMA3c.263A>C (p.Gln88Pro)
c.5090A>C (p.Gln1697Pro)
c.1982A>C (p.Gln661Pro)
c.5117A>C (p.Gln1706Pro)
c.5108A>C (p.Gln1703Pro)
c.5099A>C (p.Gln1700Pro)
c.4985A>C (p.Gln1662Pro)
c.2969A>C (p.Gln990Pro)
c.659A>C (p.Gln220Pro)
n.5358A>C
18g.23876385A>GCA402045047LAMA3c.263A>G (p.Gln88Arg)
c.5090A>G (p.Gln1697Arg)
c.1982A>G (p.Gln661Arg)
c.5117A>G (p.Gln1706Arg)
c.5108A>G (p.Gln1703Arg)
c.5099A>G (p.Gln1700Arg)
c.4985A>G (p.Gln1662Arg)
c.2969A>G (p.Gln990Arg)
c.659A>G (p.Gln220Arg)
n.5358A>G
18g.23876385A>TCA402045048LAMA3c.263A>T (p.Gln88Leu)
c.5090A>T (p.Gln1697Leu)
c.1982A>T (p.Gln661Leu)
c.5117A>T (p.Gln1706Leu)
c.5108A>T (p.Gln1703Leu)
c.5099A>T (p.Gln1700Leu)
c.4985A>T (p.Gln1662Leu)
c.2969A>T (p.Gln990Leu)
c.659A>T (p.Gln220Leu)
n.5358A>T
18g.23876386G>ACA503327931LAMA3c.264G>A (p.Gln88=)
c.5091G>A (p.Gln1697=)
c.1983G>A (p.Gln661=)
c.5118G>A (p.Gln1706=)
c.5109G>A (p.Gln1703=)
c.5100G>A (p.Gln1700=)
c.4986G>A (p.Gln1662=)
c.2970G>A (p.Gln990=)
c.660G>A (p.Gln220=)
n.5359G>A
18g.23876386G>CCA402045049LAMA3c.264G>C (p.Gln88His)
c.5091G>C (p.Gln1697His)
c.1983G>C (p.Gln661His)
c.5118G>C (p.Gln1706His)
c.5109G>C (p.Gln1703His)
c.5100G>C (p.Gln1700His)
c.4986G>C (p.Gln1662His)
c.2970G>C (p.Gln990His)
c.660G>C (p.Gln220His)
n.5359G>C
18g.23876386G>TCA402045050LAMA3c.264G>T (p.Gln88His)
c.5091G>T (p.Gln1697His)
c.1983G>T (p.Gln661His)
c.5118G>T (p.Gln1706His)
c.5109G>T (p.Gln1703His)
c.5100G>T (p.Gln1700His)
c.4986G>T (p.Gln1662His)
c.2970G>T (p.Gln990His)
c.660G>T (p.Gln220His)
n.5359G>T
18g.23876387G>ACA402045051LAMA3c.265G>A (p.Asp89Asn)
c.5092G>A (p.Asp1698Asn)
c.1984G>A (p.Asp662Asn)
c.5119G>A (p.Asp1707Asn)
c.5110G>A (p.Asp1704Asn)
c.5101G>A (p.Asp1701Asn)
c.4987G>A (p.Asp1663Asn)
c.2971G>A (p.Asp991Asn)
c.661G>A (p.Asp221Asn)
n.5360G>A
18g.23876387G>CCA402045052LAMA3c.265G>C (p.Asp89His)
c.5092G>C (p.Asp1698His)
c.1984G>C (p.Asp662His)
c.5119G>C (p.Asp1707His)
c.5110G>C (p.Asp1704His)
c.5101G>C (p.Asp1701His)
c.4987G>C (p.Asp1663His)
c.2971G>C (p.Asp991His)
c.661G>C (p.Asp221His)
n.5360G>C
 gnomAD v4
18g.23876387G>TCA402045053LAMA3c.265G>T (p.Asp89Tyr)
c.5092G>T (p.Asp1698Tyr)
c.1984G>T (p.Asp662Tyr)
c.5119G>T (p.Asp1707Tyr)
c.5110G>T (p.Asp1704Tyr)
c.5101G>T (p.Asp1701Tyr)
c.4987G>T (p.Asp1663Tyr)
c.2971G>T (p.Asp991Tyr)
c.661G>T (p.Asp221Tyr)
n.5360G>T
18g.23876388A=CA2290312359LAMA3c.266A= (p.Asp89=)
c.5093A= (p.Asp1698=)
c.1985A= (p.Asp662=)
c.5120A= (p.Asp1707=)
c.5111A= (p.Asp1704=)
c.5102A= (p.Asp1701=)
c.4988A= (p.Asp1663=)
c.2972A= (p.Asp991=)
c.662A= (p.Asp221=)
n.5361A=
18g.23876388A>CCA402045054LAMA3c.266A>C (p.Asp89Ala)
c.5093A>C (p.Asp1698Ala)
c.1985A>C (p.Asp662Ala)
c.5120A>C (p.Asp1707Ala)
c.5111A>C (p.Asp1704Ala)
c.5102A>C (p.Asp1701Ala)
c.4988A>C (p.Asp1663Ala)
c.2972A>C (p.Asp991Ala)
c.662A>C (p.Asp221Ala)
n.5361A>C
18g.23876388A>GCA402045056LAMA3c.266A>G (p.Asp89Gly)
c.5093A>G (p.Asp1698Gly)
c.1985A>G (p.Asp662Gly)
c.5120A>G (p.Asp1707Gly)
c.5111A>G (p.Asp1704Gly)
c.5102A>G (p.Asp1701Gly)
c.4988A>G (p.Asp1663Gly)
c.2972A>G (p.Asp991Gly)
c.662A>G (p.Asp221Gly)
n.5361A>G
 dbSNP
18g.23876388A>TCA402045055LAMA3c.266A>T (p.Asp89Val)
c.5093A>T (p.Asp1698Val)
c.1985A>T (p.Asp662Val)
c.5120A>T (p.Asp1707Val)
c.5111A>T (p.Asp1704Val)
c.5102A>T (p.Asp1701Val)
c.4988A>T (p.Asp1663Val)
c.2972A>T (p.Asp991Val)
c.662A>T (p.Asp221Val)
n.5361A>T
 dbSNP
18g.23876389T>ACA402045057LAMA3c.267T>A (p.Asp89Glu)
c.5094T>A (p.Asp1698Glu)
c.1986T>A (p.Asp662Glu)
c.5121T>A (p.Asp1707Glu)
c.5112T>A (p.Asp1704Glu)
c.5103T>A (p.Asp1701Glu)
c.4989T>A (p.Asp1663Glu)
c.2973T>A (p.Asp991Glu)
c.663T>A (p.Asp221Glu)
n.5362T>A
18g.23876389T>CCA503327933LAMA3c.267T>C (p.Asp89=)
c.5094T>C (p.Asp1698=)
c.1986T>C (p.Asp662=)
c.5121T>C (p.Asp1707=)
c.5112T>C (p.Asp1704=)
c.5103T>C (p.Asp1701=)
c.4989T>C (p.Asp1663=)
c.2973T>C (p.Asp991=)
c.663T>C (p.Asp221=)
n.5362T>C
18g.23876389T>GCA402045058LAMA3c.267T>G (p.Asp89Glu)
c.5094T>G (p.Asp1698Glu)
c.1986T>G (p.Asp662Glu)
c.5121T>G (p.Asp1707Glu)
c.5112T>G (p.Asp1704Glu)
c.5103T>G (p.Asp1701Glu)
c.4989T>G (p.Asp1663Glu)
c.2973T>G (p.Asp991Glu)
c.663T>G (p.Asp221Glu)
n.5362T>G
18g.23876390G>ACA402045059LAMA3c.268G>A (p.Gly90Ser)
c.5095G>A (p.Gly1699Ser)
c.1987G>A (p.Gly663Ser)
c.5122G>A (p.Gly1708Ser)
c.5113G>A (p.Gly1705Ser)
c.5104G>A (p.Gly1702Ser)
c.4990G>A (p.Gly1664Ser)
c.2974G>A (p.Gly992Ser)
c.664G>A (p.Gly222Ser)
n.5363G>A
18g.23876390G>CCA402045060LAMA3c.268G>C (p.Gly90Arg)
c.5095G>C (p.Gly1699Arg)
c.1987G>C (p.Gly663Arg)
c.5122G>C (p.Gly1708Arg)
c.5113G>C (p.Gly1705Arg)
c.5104G>C (p.Gly1702Arg)
c.4990G>C (p.Gly1664Arg)
c.2974G>C (p.Gly992Arg)
c.664G>C (p.Gly222Arg)
n.5363G>C
18g.23876390G>TCA402045061LAMA3c.268G>T (p.Gly90Cys)
c.5095G>T (p.Gly1699Cys)
c.1987G>T (p.Gly663Cys)
c.5122G>T (p.Gly1708Cys)
c.5113G>T (p.Gly1705Cys)
c.5104G>T (p.Gly1702Cys)
c.4990G>T (p.Gly1664Cys)
c.2974G>T (p.Gly992Cys)
c.664G>T (p.Gly222Cys)
n.5363G>T
18g.23876391G>ACA402045062LAMA3c.269G>A (p.Gly90Asp)
c.5096G>A (p.Gly1699Asp)
c.1988G>A (p.Gly663Asp)
c.5123G>A (p.Gly1708Asp)
c.5114G>A (p.Gly1705Asp)
c.5105G>A (p.Gly1702Asp)
c.4991G>A (p.Gly1664Asp)
c.2975G>A (p.Gly992Asp)
c.665G>A (p.Gly222Asp)
n.5364G>A
18g.23876391G>CCA402045063LAMA3c.269G>C (p.Gly90Ala)
c.5096G>C (p.Gly1699Ala)
c.1988G>C (p.Gly663Ala)
c.5123G>C (p.Gly1708Ala)
c.5114G>C (p.Gly1705Ala)
c.5105G>C (p.Gly1702Ala)
c.4991G>C (p.Gly1664Ala)
c.2975G>C (p.Gly992Ala)
c.665G>C (p.Gly222Ala)
n.5364G>C
18g.23876391G=CA2290312360LAMA3c.269G= (p.Gly90=)
c.5096G= (p.Gly1699=)
c.1988G= (p.Gly663=)
c.5123G= (p.Gly1708=)
c.5114G= (p.Gly1705=)
c.5105G= (p.Gly1702=)
c.4991G= (p.Gly1664=)
c.2975G= (p.Gly992=)
c.665G= (p.Gly222=)
n.5364G=
18g.23876391G>TCA402045064LAMA3c.269G>T (p.Gly90Val)
c.5096G>T (p.Gly1699Val)
c.1988G>T (p.Gly663Val)
c.5123G>T (p.Gly1708Val)
c.5114G>T (p.Gly1705Val)
c.5105G>T (p.Gly1702Val)
c.4991G>T (p.Gly1664Val)
c.2975G>T (p.Gly992Val)
c.665G>T (p.Gly222Val)
n.5364G>T
 dbSNP gnomAD v2 gnomAD v4
18g.23876392C>ACA503327937LAMA3c.270C>A (p.Gly90=)
c.5097C>A (p.Gly1699=)
c.1989C>A (p.Gly663=)
c.5124C>A (p.Gly1708=)
c.5115C>A (p.Gly1705=)
c.5106C>A (p.Gly1702=)
c.4992C>A (p.Gly1664=)
c.2976C>A (p.Gly992=)
c.666C>A (p.Gly222=)
n.5365C>A
 gnomAD v4
18g.23876392C>GCA503327938LAMA3c.270C>G (p.Gly90=)
c.5097C>G (p.Gly1699=)
c.1989C>G (p.Gly663=)
c.5124C>G (p.Gly1708=)
c.5115C>G (p.Gly1705=)
c.5106C>G (p.Gly1702=)
c.4992C>G (p.Gly1664=)
c.2976C>G (p.Gly992=)
c.666C>G (p.Gly222=)
n.5365C>G
18g.23876392C>TCA503327939LAMA3c.270C>T (p.Gly90=)
c.5097C>T (p.Gly1699=)
c.1989C>T (p.Gly663=)
c.5124C>T (p.Gly1708=)
c.5115C>T (p.Gly1705=)
c.5106C>T (p.Gly1702=)
c.4992C>T (p.Gly1664=)
c.2976C>T (p.Gly992=)
c.666C>T (p.Gly222=)
n.5365C>T
18g.23876393T>ACA402045065LAMA3c.271T>A (p.Ser91Thr)
c.5098T>A (p.Ser1700Thr)
c.1990T>A (p.Ser664Thr)
c.5125T>A (p.Ser1709Thr)
c.5116T>A (p.Ser1706Thr)
c.5107T>A (p.Ser1703Thr)
c.4993T>A (p.Ser1665Thr)
c.2977T>A (p.Ser993Thr)
c.667T>A (p.Ser223Thr)
n.5366T>A
18g.23876393T>CCA402045066LAMA3c.271T>C (p.Ser91Pro)
c.5098T>C (p.Ser1700Pro)
c.1990T>C (p.Ser664Pro)
c.5125T>C (p.Ser1709Pro)
c.5116T>C (p.Ser1706Pro)
c.5107T>C (p.Ser1703Pro)
c.4993T>C (p.Ser1665Pro)
c.2977T>C (p.Ser993Pro)
c.667T>C (p.Ser223Pro)
n.5366T>C
18g.23876393T>GCA402045067LAMA3c.271T>G (p.Ser91Ala)
c.5098T>G (p.Ser1700Ala)
c.1990T>G (p.Ser664Ala)
c.5125T>G (p.Ser1709Ala)
c.5116T>G (p.Ser1706Ala)
c.5107T>G (p.Ser1703Ala)
c.4993T>G (p.Ser1665Ala)
c.2977T>G (p.Ser993Ala)
c.667T>G (p.Ser223Ala)
n.5366T>G
18g.23876394C>ACA402045069LAMA3c.272C>A (p.Ser91Ter)
c.5099C>A (p.Ser1700Ter)
c.1991C>A (p.Ser664Ter)
c.5126C>A (p.Ser1709Ter)
c.5117C>A (p.Ser1706Ter)
c.5108C>A (p.Ser1703Ter)
c.4994C>A (p.Ser1665Ter)
c.2978C>A (p.Ser993Ter)
c.668C>A (p.Ser223Ter)
n.5367C>A
 gnomAD v4
18g.23876394C=CA2290312361LAMA3c.272C= (p.Ser91=)
c.5099C= (p.Ser1700=)
c.1991C= (p.Ser664=)
c.5126C= (p.Ser1709=)
c.5117C= (p.Ser1706=)
c.5108C= (p.Ser1703=)
c.4994C= (p.Ser1665=)
c.2978C= (p.Ser993=)
c.668C= (p.Ser223=)
n.5367C=
18g.23876394C>GCA8915884LAMA3c.272C>G (p.Ser91Ter)
c.5099C>G (p.Ser1700Ter)
c.1991C>G (p.Ser664Ter)
c.5126C>G (p.Ser1709Ter)
c.5117C>G (p.Ser1706Ter)
c.5108C>G (p.Ser1703Ter)
c.4994C>G (p.Ser1665Ter)
c.2978C>G (p.Ser993Ter)
c.668C>G (p.Ser223Ter)
n.5367C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23876394C>TCA402045068LAMA3c.272C>T (p.Ser91Leu)
c.5099C>T (p.Ser1700Leu)
c.1991C>T (p.Ser664Leu)
c.5126C>T (p.Ser1709Leu)
c.5117C>T (p.Ser1706Leu)
c.5108C>T (p.Ser1703Leu)
c.4994C>T (p.Ser1665Leu)
c.2978C>T (p.Ser993Leu)
c.668C>T (p.Ser223Leu)
n.5367C>T
 gnomAD v4
18g.23876395A>CCA503327943LAMA3c.273A>C (p.Ser91=)
c.5100A>C (p.Ser1700=)
c.1992A>C (p.Ser664=)
c.5127A>C (p.Ser1709=)
c.5118A>C (p.Ser1706=)
c.5109A>C (p.Ser1703=)
c.4995A>C (p.Ser1665=)
c.2979A>C (p.Ser993=)
c.669A>C (p.Ser223=)
n.5368A>C
18g.23876395A>GCA503327944LAMA3c.273A>G (p.Ser91=)
c.5100A>G (p.Ser1700=)
c.1992A>G (p.Ser664=)
c.5127A>G (p.Ser1709=)
c.5118A>G (p.Ser1706=)
c.5109A>G (p.Ser1703=)
c.4995A>G (p.Ser1665=)
c.2979A>G (p.Ser993=)
c.669A>G (p.Ser223=)
n.5368A>G
18g.23876395A>TCA503327945LAMA3c.273A>T (p.Ser91=)
c.5100A>T (p.Ser1700=)
c.1992A>T (p.Ser664=)
c.5127A>T (p.Ser1709=)
c.5118A>T (p.Ser1706=)
c.5109A>T (p.Ser1703=)
c.4995A>T (p.Ser1665=)
c.2979A>T (p.Ser993=)
c.669A>T (p.Ser223=)
n.5368A>T
18g.23876396G>ACA402045071LAMA3c.274G>A (p.Gly92Ser)
c.5101G>A (p.Gly1701Ser)
c.1993G>A (p.Gly665Ser)
c.5128G>A (p.Gly1710Ser)
c.5119G>A (p.Gly1707Ser)
c.5110G>A (p.Gly1704Ser)
c.4996G>A (p.Gly1666Ser)
c.2980G>A (p.Gly994Ser)
c.670G>A (p.Gly224Ser)
n.5369G>A
 gnomAD v4
18g.23876396G>CCA402045070LAMA3c.274G>C (p.Gly92Arg)
c.5101G>C (p.Gly1701Arg)
c.1993G>C (p.Gly665Arg)
c.5128G>C (p.Gly1710Arg)
c.5119G>C (p.Gly1707Arg)
c.5110G>C (p.Gly1704Arg)
c.4996G>C (p.Gly1666Arg)
c.2980G>C (p.Gly994Arg)
c.670G>C (p.Gly224Arg)
n.5369G>C
18g.23876396G>TCA402045072LAMA3c.274G>T (p.Gly92Cys)
c.5101G>T (p.Gly1701Cys)
c.1993G>T (p.Gly665Cys)
c.5128G>T (p.Gly1710Cys)
c.5119G>T (p.Gly1707Cys)
c.5110G>T (p.Gly1704Cys)
c.4996G>T (p.Gly1666Cys)
c.2980G>T (p.Gly994Cys)
c.670G>T (p.Gly224Cys)
n.5369G>T
18g.23876397G>ACA402045073LAMA3c.275G>A (p.Gly92Asp)
c.5102G>A (p.Gly1701Asp)
c.1994G>A (p.Gly665Asp)
c.5129G>A (p.Gly1710Asp)
c.5120G>A (p.Gly1707Asp)
c.5111G>A (p.Gly1704Asp)
c.4997G>A (p.Gly1666Asp)
c.2981G>A (p.Gly994Asp)
c.671G>A (p.Gly224Asp)
n.5370G>A
18g.23876397G>CCA402045074LAMA3c.275G>C (p.Gly92Ala)
c.5102G>C (p.Gly1701Ala)
c.1994G>C (p.Gly665Ala)
c.5129G>C (p.Gly1710Ala)
c.5120G>C (p.Gly1707Ala)
c.5111G>C (p.Gly1704Ala)
c.4997G>C (p.Gly1666Ala)
c.2981G>C (p.Gly994Ala)
c.671G>C (p.Gly224Ala)
n.5370G>C
18g.23876397G>TCA402045075LAMA3c.275G>T (p.Gly92Val)
c.5102G>T (p.Gly1701Val)
c.1994G>T (p.Gly665Val)
c.5129G>T (p.Gly1710Val)
c.5120G>T (p.Gly1707Val)
c.5111G>T (p.Gly1704Val)
c.4997G>T (p.Gly1666Val)
c.2981G>T (p.Gly994Val)
c.671G>T (p.Gly224Val)
n.5370G>T
 gnomAD v4
18g.23876398C>ACA503327951LAMA3c.276C>A (p.Gly92=)
c.5103C>A (p.Gly1701=)
c.1995C>A (p.Gly665=)
c.5130C>A (p.Gly1710=)
c.5121C>A (p.Gly1707=)
c.5112C>A (p.Gly1704=)
c.4998C>A (p.Gly1666=)
c.2982C>A (p.Gly994=)
c.672C>A (p.Gly224=)
n.5371C>A
18g.23876398C>GCA503327950LAMA3c.276C>G (p.Gly92=)
c.5103C>G (p.Gly1701=)
c.1995C>G (p.Gly665=)
c.5130C>G (p.Gly1710=)
c.5121C>G (p.Gly1707=)
c.5112C>G (p.Gly1704=)
c.4998C>G (p.Gly1666=)
c.2982C>G (p.Gly994=)
c.672C>G (p.Gly224=)
n.5371C>G
18g.23876398C>TCA503327949LAMA3c.276C>T (p.Gly92=)
c.5103C>T (p.Gly1701=)
c.1995C>T (p.Gly665=)
c.5130C>T (p.Gly1710=)
c.5121C>T (p.Gly1707=)
c.5112C>T (p.Gly1704=)
c.4998C>T (p.Gly1666=)
c.2982C>T (p.Gly994=)
c.672C>T (p.Gly224=)
n.5371C>T
18g.23876399A=CA2290312362LAMA3c.277A= (p.Ile93=)
c.5104A= (p.Ile1702=)
c.1996A= (p.Ile666=)
c.5131A= (p.Ile1711=)
c.5122A= (p.Ile1708=)
c.5113A= (p.Ile1705=)
c.4999A= (p.Ile1667=)
c.2983A= (p.Ile995=)
c.673A= (p.Ile225=)
n.5372A=
18g.23876399A>CCA402045076LAMA3c.277A>C (p.Ile93Leu)
c.5104A>C (p.Ile1702Leu)
c.1996A>C (p.Ile666Leu)
c.5131A>C (p.Ile1711Leu)
c.5122A>C (p.Ile1708Leu)
c.5113A>C (p.Ile1705Leu)
c.4999A>C (p.Ile1667Leu)
c.2983A>C (p.Ile995Leu)
c.673A>C (p.Ile225Leu)
n.5372A>C
18g.23876399A>GCA402045077LAMA3c.277A>G (p.Ile93Val)
c.5104A>G (p.Ile1702Val)
c.1996A>G (p.Ile666Val)
c.5131A>G (p.Ile1711Val)
c.5122A>G (p.Ile1708Val)
c.5113A>G (p.Ile1705Val)
c.4999A>G (p.Ile1667Val)
c.2983A>G (p.Ile995Val)
c.673A>G (p.Ile225Val)
n.5372A>G
 dbSNP gnomAD v4
18g.23876399A>TCA402045078LAMA3c.277A>T (p.Ile93Leu)
c.5104A>T (p.Ile1702Leu)
c.1996A>T (p.Ile666Leu)
c.5131A>T (p.Ile1711Leu)
c.5122A>T (p.Ile1708Leu)
c.5113A>T (p.Ile1705Leu)
c.4999A>T (p.Ile1667Leu)
c.2983A>T (p.Ile995Leu)
c.673A>T (p.Ile225Leu)
n.5372A>T
 dbSNP gnomAD v3 gnomAD v4
18g.23876400T>ACA402045079LAMA3c.278T>A (p.Ile93Lys)
c.5105T>A (p.Ile1702Lys)
c.1997T>A (p.Ile666Lys)
c.5132T>A (p.Ile1711Lys)
c.5123T>A (p.Ile1708Lys)
c.5114T>A (p.Ile1705Lys)
c.5000T>A (p.Ile1667Lys)
c.2984T>A (p.Ile995Lys)
c.674T>A (p.Ile225Lys)
n.5373T>A
18g.23876400T>CCA402045080LAMA3c.278T>C (p.Ile93Thr)
c.5105T>C (p.Ile1702Thr)
c.1997T>C (p.Ile666Thr)
c.5132T>C (p.Ile1711Thr)
c.5123T>C (p.Ile1708Thr)
c.5114T>C (p.Ile1705Thr)
c.5000T>C (p.Ile1667Thr)
c.2984T>C (p.Ile995Thr)
c.674T>C (p.Ile225Thr)
n.5373T>C
 COSMIC COSMIC
18g.23876400T>GCA402045081LAMA3c.278T>G (p.Ile93Arg)
c.5105T>G (p.Ile1702Arg)
c.1997T>G (p.Ile666Arg)
c.5132T>G (p.Ile1711Arg)
c.5123T>G (p.Ile1708Arg)
c.5114T>G (p.Ile1705Arg)
c.5000T>G (p.Ile1667Arg)
c.2984T>G (p.Ile995Arg)
c.674T>G (p.Ile225Arg)
n.5373T>G
18g.23876401A=CA2290312363LAMA3c.279A= (p.Ile93=)
c.5106A= (p.Ile1702=)
c.1998A= (p.Ile666=)
c.5133A= (p.Ile1711=)
c.5124A= (p.Ile1708=)
c.5115A= (p.Ile1705=)
c.5001A= (p.Ile1667=)
c.2985A= (p.Ile995=)
c.675A= (p.Ile225=)
n.5374A=
18g.23876401A>CCA503327954LAMA3c.279A>C (p.Ile93=)
c.5106A>C (p.Ile1702=)
c.1998A>C (p.Ile666=)
c.5133A>C (p.Ile1711=)
c.5124A>C (p.Ile1708=)
c.5115A>C (p.Ile1705=)
c.5001A>C (p.Ile1667=)
c.2985A>C (p.Ile995=)
c.675A>C (p.Ile225=)
n.5374A>C
18g.23876401A>GCA402045082LAMA3c.279A>G (p.Ile93Met)
c.5106A>G (p.Ile1702Met)
c.1998A>G (p.Ile666Met)
c.5133A>G (p.Ile1711Met)
c.5124A>G (p.Ile1708Met)
c.5115A>G (p.Ile1705Met)
c.5001A>G (p.Ile1667Met)
c.2985A>G (p.Ile995Met)
c.675A>G (p.Ile225Met)
n.5374A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.23876401A>TCA503327957LAMA3c.279A>T (p.Ile93=)
c.5106A>T (p.Ile1702=)
c.1998A>T (p.Ile666=)
c.5133A>T (p.Ile1711=)
c.5124A>T (p.Ile1708=)
c.5115A>T (p.Ile1705=)
c.5001A>T (p.Ile1667=)
c.2985A>T (p.Ile995=)
c.675A>T (p.Ile225=)
n.5374A>T
18g.23876402T>ACA402045083LAMA3c.280T>A (p.Cys94Ser)
c.5107T>A (p.Cys1703Ser)
c.1999T>A (p.Cys667Ser)
c.5134T>A (p.Cys1712Ser)
c.5125T>A (p.Cys1709Ser)
c.5116T>A (p.Cys1706Ser)
c.5002T>A (p.Cys1668Ser)
c.2986T>A (p.Cys996Ser)
c.676T>A (p.Cys226Ser)
n.5375T>A
18g.23876402T>CCA402045084LAMA3c.280T>C (p.Cys94Arg)
c.5107T>C (p.Cys1703Arg)
c.1999T>C (p.Cys667Arg)
c.5134T>C (p.Cys1712Arg)
c.5125T>C (p.Cys1709Arg)
c.5116T>C (p.Cys1706Arg)
c.5002T>C (p.Cys1668Arg)
c.2986T>C (p.Cys996Arg)
c.676T>C (p.Cys226Arg)
n.5375T>C
18g.23876402T>GCA402045085LAMA3c.280T>G (p.Cys94Gly)
c.5107T>G (p.Cys1703Gly)
c.1999T>G (p.Cys667Gly)
c.5134T>G (p.Cys1712Gly)
c.5125T>G (p.Cys1709Gly)
c.5116T>G (p.Cys1706Gly)
c.5002T>G (p.Cys1668Gly)
c.2986T>G (p.Cys996Gly)
c.676T>G (p.Cys226Gly)
n.5375T>G
18g.23876402_23876403delinsTGCA2290312364LAMA3c.280_281delinsTG (p.Cys94=)
c.5107_5108delinsTG (p.Cys1703=)
c.1999_2000delinsTG (p.Cys667=)
c.5134_5135delinsTG (p.Cys1712=)
c.5125_5126delinsTG (p.Cys1709=)
c.5116_5117delinsTG (p.Cys1706=)
c.5002_5003delinsTG (p.Cys1668=)
c.2986_2987delinsTG (p.Cys996=)
c.676_677delinsTG (p.Cys226=)
n.5375_5376delinsTG
18g.23876403delCA628681719LAMA3c.281del (p.Cys94LeufsTer?)
c.5108del (p.Cys1703LeufsTer?)
c.2000del (p.Cys667LeufsTer?)
c.5135del (p.Cys1712LeufsTer?)
c.5126del (p.Cys1709LeufsTer?)
c.5117del (p.Cys1706LeufsTer?)
c.5003del (p.Cys1668LeufsTer?)
c.2987del (p.Cys996LeufsTer?)
c.677del (p.Cys226LeufsTer?)
n.5376del
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23876403G>ACA402045088LAMA3c.281G>A (p.Cys94Tyr)
c.5108G>A (p.Cys1703Tyr)
c.2000G>A (p.Cys667Tyr)
c.5135G>A (p.Cys1712Tyr)
c.5126G>A (p.Cys1709Tyr)
c.5117G>A (p.Cys1706Tyr)
c.5003G>A (p.Cys1668Tyr)
c.2987G>A (p.Cys996Tyr)
c.677G>A (p.Cys226Tyr)
n.5376G>A
18g.23876403G>CCA402045086LAMA3c.281G>C (p.Cys94Ser)
c.5108G>C (p.Cys1703Ser)
c.2000G>C (p.Cys667Ser)
c.5135G>C (p.Cys1712Ser)
c.5126G>C (p.Cys1709Ser)
c.5117G>C (p.Cys1706Ser)
c.5003G>C (p.Cys1668Ser)
c.2987G>C (p.Cys996Ser)
c.677G>C (p.Cys226Ser)
n.5376G>C
18g.23876403G>TCA402045087LAMA3c.281G>T (p.Cys94Phe)
c.5108G>T (p.Cys1703Phe)
c.2000G>T (p.Cys667Phe)
c.5135G>T (p.Cys1712Phe)
c.5126G>T (p.Cys1709Phe)
c.5117G>T (p.Cys1706Phe)
c.5003G>T (p.Cys1668Phe)
c.2987G>T (p.Cys996Phe)
c.677G>T (p.Cys226Phe)
n.5376G>T
18g.23876404T>ACA402045089LAMA3c.282T>A (p.Cys94Ter)
c.5109T>A (p.Cys1703Ter)
c.2001T>A (p.Cys667Ter)
c.5136T>A (p.Cys1712Ter)
c.5127T>A (p.Cys1709Ter)
c.5118T>A (p.Cys1706Ter)
c.5004T>A (p.Cys1668Ter)
c.2988T>A (p.Cys996Ter)
c.678T>A (p.Cys226Ter)
n.5377T>A
18g.23876404T>CCA503327960LAMA3c.282T>C (p.Cys94=)
c.5109T>C (p.Cys1703=)
c.2001T>C (p.Cys667=)
c.5136T>C (p.Cys1712=)
c.5127T>C (p.Cys1709=)
c.5118T>C (p.Cys1706=)
c.5004T>C (p.Cys1668=)
c.2988T>C (p.Cys996=)
c.678T>C (p.Cys226=)
n.5377T>C
18g.23876404T>GCA8915885LAMA3c.282T>G (p.Cys94Trp)
c.5109T>G (p.Cys1703Trp)
c.2001T>G (p.Cys667Trp)
c.5136T>G (p.Cys1712Trp)
c.5127T>G (p.Cys1709Trp)
c.5118T>G (p.Cys1706Trp)
c.5004T>G (p.Cys1668Trp)
c.2988T>G (p.Cys996Trp)
c.678T>G (p.Cys226Trp)
n.5377T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23876404T=CA2290312365LAMA3c.282T= (p.Cys94=)
c.5109T= (p.Cys1703=)
c.2001T= (p.Cys667=)
c.5136T= (p.Cys1712=)
c.5127T= (p.Cys1709=)
c.5118T= (p.Cys1706=)
c.5004T= (p.Cys1668=)
c.2988T= (p.Cys996=)
c.678T= (p.Cys226=)
n.5377T=
18g.23876405G>ACA402045090LAMA3c.283G>A (p.Val95Ile)
c.5110G>A (p.Val1704Ile)
c.2002G>A (p.Val668Ile)
c.5137G>A (p.Val1713Ile)
c.5128G>A (p.Val1710Ile)
c.5119G>A (p.Val1707Ile)
c.5005G>A (p.Val1669Ile)
c.2989G>A (p.Val997Ile)
c.679G>A (p.Val227Ile)
n.5378G>A
 gnomAD v4
18g.23876405G>CCA402045091LAMA3c.283G>C (p.Val95Leu)
c.5110G>C (p.Val1704Leu)
c.2002G>C (p.Val668Leu)
c.5137G>C (p.Val1713Leu)
c.5128G>C (p.Val1710Leu)
c.5119G>C (p.Val1707Leu)
c.5005G>C (p.Val1669Leu)
c.2989G>C (p.Val997Leu)
c.679G>C (p.Val227Leu)
n.5378G>C
18g.23876405G>TCA402045092LAMA3c.283G>T (p.Val95Phe)
c.5110G>T (p.Val1704Phe)
c.2002G>T (p.Val668Phe)
c.5137G>T (p.Val1713Phe)
c.5128G>T (p.Val1710Phe)
c.5119G>T (p.Val1707Phe)
c.5005G>T (p.Val1669Phe)
c.2989G>T (p.Val997Phe)
c.679G>T (p.Val227Phe)
n.5378G>T
 dbSNP gnomAD v4
18g.23876406T>ACA402045093LAMA3c.284T>A (p.Val95Asp)
c.5111T>A (p.Val1704Asp)
c.2003T>A (p.Val668Asp)
c.5138T>A (p.Val1713Asp)
c.5129T>A (p.Val1710Asp)
c.5120T>A (p.Val1707Asp)
c.5006T>A (p.Val1669Asp)
c.2990T>A (p.Val997Asp)
c.680T>A (p.Val227Asp)
n.5379T>A
18g.23876406T>CCA402045094LAMA3c.284T>C (p.Val95Ala)
c.5111T>C (p.Val1704Ala)
c.2003T>C (p.Val668Ala)
c.5138T>C (p.Val1713Ala)
c.5129T>C (p.Val1710Ala)
c.5120T>C (p.Val1707Ala)
c.5006T>C (p.Val1669Ala)
c.2990T>C (p.Val997Ala)
c.680T>C (p.Val227Ala)
n.5379T>C
18g.23876406T>GCA402045095LAMA3c.284T>G (p.Val95Gly)
c.5111T>G (p.Val1704Gly)
c.2003T>G (p.Val668Gly)
c.5138T>G (p.Val1713Gly)
c.5129T>G (p.Val1710Gly)
c.5120T>G (p.Val1707Gly)
c.5006T>G (p.Val1669Gly)
c.2990T>G (p.Val997Gly)
c.680T>G (p.Val227Gly)
n.5379T>G
18g.23876407T>ACA503327962LAMA3c.285T>A (p.Val95=)
c.5112T>A (p.Val1704=)
c.2004T>A (p.Val668=)
c.5139T>A (p.Val1713=)
c.5130T>A (p.Val1710=)
c.5121T>A (p.Val1707=)
c.5007T>A (p.Val1669=)
c.2991T>A (p.Val997=)
c.681T>A (p.Val227=)
n.5380T>A
18g.23876407T>CCA503327964LAMA3c.285T>C (p.Val95=)
c.5112T>C (p.Val1704=)
c.2004T>C (p.Val668=)
c.5139T>C (p.Val1713=)
c.5130T>C (p.Val1710=)
c.5121T>C (p.Val1707=)
c.5007T>C (p.Val1669=)
c.2991T>C (p.Val997=)
c.681T>C (p.Val227=)
n.5380T>C
 gnomAD v4
18g.23876407T>GCA503327966LAMA3c.285T>G (p.Val95=)
c.5112T>G (p.Val1704=)
c.2004T>G (p.Val668=)
c.5139T>G (p.Val1713=)
c.5130T>G (p.Val1710=)
c.5121T>G (p.Val1707=)
c.5007T>G (p.Val1669=)
c.2991T>G (p.Val997=)
c.681T>G (p.Val227=)
n.5380T>G
18g.23876408G>ACA402045096LAMA3c.285+1G>A (n.285+1G>A)
c.5112+1G>A (n.5112+1G>A)
c.2004+1G>A (n.2004+1G>A)
c.5139+1G>A (n.5139+1G>A)
c.5130+1G>A (n.5130+1G>A)
c.5121+1G>A (n.5121+1G>A)
c.5007+1G>A (n.5007+1G>A)
c.2991+1G>A (n.2991+1G>A)
c.681+1G>A (n.681+1G>A)
n.5380+1G>A
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
18g.23876408G>CCA402045097LAMA3c.285+1G>C (n.285+1G>C)
c.5112+1G>C (n.5112+1G>C)
c.2004+1G>C (n.2004+1G>C)
c.5139+1G>C (n.5139+1G>C)
c.5130+1G>C (n.5130+1G>C)
c.5121+1G>C (n.5121+1G>C)
c.5007+1G>C (n.5007+1G>C)
c.2991+1G>C (n.2991+1G>C)
c.681+1G>C (n.681+1G>C)
n.5380+1G>C
18g.23876408G=CA2290312366LAMA3c.285+1G= (n.285+1G=)
c.5112+1G= (n.5112+1G=)
c.2004+1G= (n.2004+1G=)
c.5139+1G= (n.5139+1G=)
c.5130+1G= (n.5130+1G=)
c.5121+1G= (n.5121+1G=)
c.5007+1G= (n.5007+1G=)
c.2991+1G= (n.2991+1G=)
c.681+1G= (n.681+1G=)
n.5380+1G=
18g.23876408G>TCA16041928LAMA3c.285+1G>T (n.285+1G>T)
c.5112+1G>T (n.5112+1G>T)
c.2004+1G>T (n.2004+1G>T)
c.5139+1G>T (n.5139+1G>T)
c.5130+1G>T (n.5130+1G>T)
c.5121+1G>T (n.5121+1G>T)
c.5007+1G>T (n.5007+1G>T)
c.2991+1G>T (n.2991+1G>T)
c.681+1G>T (n.681+1G>T)
n.5380+1G>T
 ClinVar dbSNP
18g.23876409T>ACA402045100LAMA3c.285+2T>A (n.285+2T>A)
c.5112+2T>A (n.5112+2T>A)
c.2004+2T>A (n.2004+2T>A)
c.5139+2T>A (n.5139+2T>A)
c.5130+2T>A (n.5130+2T>A)
c.5121+2T>A (n.5121+2T>A)
c.5007+2T>A (n.5007+2T>A)
c.2991+2T>A (n.2991+2T>A)
c.681+2T>A (n.681+2T>A)
n.5380+2T>A
 dbSNP gnomAD v3 gnomAD v4
18g.23876409T>CCA402045099LAMA3c.285+2T>C (n.285+2T>C)
c.5112+2T>C (n.5112+2T>C)
c.2004+2T>C (n.2004+2T>C)
c.5139+2T>C (n.5139+2T>C)
c.5130+2T>C (n.5130+2T>C)
c.5121+2T>C (n.5121+2T>C)
c.5007+2T>C (n.5007+2T>C)
c.2991+2T>C (n.2991+2T>C)
c.681+2T>C (n.681+2T>C)
n.5380+2T>C
18g.23876409T>GCA402045098LAMA3c.285+2T>G (n.285+2T>G)
c.5112+2T>G (n.5112+2T>G)
c.2004+2T>G (n.2004+2T>G)
c.5139+2T>G (n.5139+2T>G)
c.5130+2T>G (n.5130+2T>G)
c.5121+2T>G (n.5121+2T>G)
c.5007+2T>G (n.5007+2T>G)
c.2991+2T>G (n.2991+2T>G)
c.681+2T>G (n.681+2T>G)
n.5380+2T>G
 ClinVar dbSNP
18g.23876409T=CA2290312367LAMA3c.285+2T= (n.285+2T=)
c.5112+2T= (n.5112+2T=)
c.2004+2T= (n.2004+2T=)
c.5139+2T= (n.5139+2T=)
c.5130+2T= (n.5130+2T=)
c.5121+2T= (n.5121+2T=)
c.5007+2T= (n.5007+2T=)
c.2991+2T= (n.2991+2T=)
c.681+2T= (n.681+2T=)
n.5380+2T=
18g.23876411A=CA2290312368LAMA3c.285+4A= (n.285+4A=)
c.5112+4A= (n.5112+4A=)
c.2004+4A= (n.2004+4A=)
c.5139+4A= (n.5139+4A=)
c.5130+4A= (n.5130+4A=)
c.5121+4A= (n.5121+4A=)
c.5007+4A= (n.5007+4A=)
c.2991+4A= (n.2991+4A=)
c.681+4A= (n.681+4A=)
n.5380+4A=
18g.23876411A>CCA2290312369LAMA3c.285+4A>C (n.285+4A>C)
c.5112+4A>C (n.5112+4A>C)
c.2004+4A>C (n.2004+4A>C)
c.5139+4A>C (n.5139+4A>C)
c.5130+4A>C (n.5130+4A>C)
c.5121+4A>C (n.5121+4A>C)
c.5007+4A>C (n.5007+4A>C)
c.2991+4A>C (n.2991+4A>C)
c.681+4A>C (n.681+4A>C)
n.5380+4A>C
 dbSNP gnomAD v4
18g.23876412G>ACA2641292714LAMA3c.285+5G>A (n.285+5G>A)
c.5112+5G>A (n.5112+5G>A)
c.2004+5G>A (n.2004+5G>A)
c.5139+5G>A (n.5139+5G>A)
c.5130+5G>A (n.5130+5G>A)
c.5121+5G>A (n.5121+5G>A)
c.5007+5G>A (n.5007+5G>A)
c.2991+5G>A (n.2991+5G>A)
c.681+5G>A (n.681+5G>A)
n.5380+5G>A
 gnomAD v4
18g.23876413T>ACA2641292715LAMA3c.285+6T>A (n.285+6T>A)
c.5112+6T>A (n.5112+6T>A)
c.2004+6T>A (n.2004+6T>A)
c.5139+6T>A (n.5139+6T>A)
c.5130+6T>A (n.5130+6T>A)
c.5121+6T>A (n.5121+6T>A)
c.5007+6T>A (n.5007+6T>A)
c.2991+6T>A (n.2991+6T>A)
c.681+6T>A (n.681+6T>A)
n.5380+6T>A
 gnomAD v4
18g.23876413T>CCA777750488LAMA3c.285+6T>C (n.285+6T>C)
c.5112+6T>C (n.5112+6T>C)
c.2004+6T>C (n.2004+6T>C)
c.5139+6T>C (n.5139+6T>C)
c.5130+6T>C (n.5130+6T>C)
c.5121+6T>C (n.5121+6T>C)
c.5007+6T>C (n.5007+6T>C)
c.2991+6T>C (n.2991+6T>C)
c.681+6T>C (n.681+6T>C)
n.5380+6T>C
 dbSNP gnomAD v3 gnomAD v4
18g.23876413T=CA2290312370LAMA3c.285+6T= (n.285+6T=)
c.5112+6T= (n.5112+6T=)
c.2004+6T= (n.2004+6T=)
c.5139+6T= (n.5139+6T=)
c.5130+6T= (n.5130+6T=)
c.5121+6T= (n.5121+6T=)
c.5007+6T= (n.5007+6T=)
c.2991+6T= (n.2991+6T=)
c.681+6T= (n.681+6T=)
n.5380+6T=
18g.23876415A>GCA2641292716LAMA3c.285+8A>G (n.285+8A>G)
c.5112+8A>G (n.5112+8A>G)
c.2004+8A>G (n.2004+8A>G)
c.5139+8A>G (n.5139+8A>G)
c.5130+8A>G (n.5130+8A>G)
c.5121+8A>G (n.5121+8A>G)
c.5007+8A>G (n.5007+8A>G)
c.2991+8A>G (n.2991+8A>G)
c.681+8A>G (n.681+8A>G)
n.5380+8A>G
 gnomAD v4
18g.23876417T>CCA8915886LAMA3c.285+10T>C (n.285+10T>C)
c.5112+10T>C (n.5112+10T>C)
c.2004+10T>C (n.2004+10T>C)
c.5139+10T>C (n.5139+10T>C)
c.5130+10T>C (n.5130+10T>C)
c.5121+10T>C (n.5121+10T>C)
c.5007+10T>C (n.5007+10T>C)
c.2991+10T>C (n.2991+10T>C)
c.681+10T>C (n.681+10T>C)
n.5380+10T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.23876417T=CA2290312371LAMA3c.285+10T= (n.285+10T=)
c.5112+10T= (n.5112+10T=)
c.2004+10T= (n.2004+10T=)
c.5139+10T= (n.5139+10T=)
c.5130+10T= (n.5130+10T=)
c.5121+10T= (n.5121+10T=)
c.5007+10T= (n.5007+10T=)
c.2991+10T= (n.2991+10T=)
c.681+10T= (n.681+10T=)
n.5380+10T=
18g.23876418T>GCA2576472629LAMA3c.285+11T>G (n.285+11T>G)
c.5112+11T>G (n.5112+11T>G)
c.2004+11T>G (n.2004+11T>G)
c.5139+11T>G (n.5139+11T>G)
c.5130+11T>G (n.5130+11T>G)
c.5121+11T>G (n.5121+11T>G)
c.5007+11T>G (n.5007+11T>G)
c.2991+11T>G (n.2991+11T>G)
c.681+11T>G (n.681+11T>G)
n.5380+11T>G
 gnomAD v4
18g.23876419G>TCA2641292717LAMA3c.285+12G>T (n.285+12G>T)
c.5112+12G>T (n.5112+12G>T)
c.2004+12G>T (n.2004+12G>T)
c.5139+12G>T (n.5139+12G>T)
c.5130+12G>T (n.5130+12G>T)
c.5121+12G>T (n.5121+12G>T)
c.5007+12G>T (n.5007+12G>T)
c.2991+12G>T (n.2991+12G>T)
c.681+12G>T (n.681+12G>T)
n.5380+12G>T
 gnomAD v4
18g.23876420A=CA2290312372LAMA3c.285+13A= (n.285+13A=)
c.5112+13A= (n.5112+13A=)
c.2004+13A= (n.2004+13A=)
c.5139+13A= (n.5139+13A=)
c.5130+13A= (n.5130+13A=)
c.5121+13A= (n.5121+13A=)
c.5007+13A= (n.5007+13A=)
c.2991+13A= (n.2991+13A=)
c.681+13A= (n.681+13A=)
n.5380+13A=
18g.23876420A>TCA628681723LAMA3c.285+13A>T (n.285+13A>T)
c.5112+13A>T (n.5112+13A>T)
c.2004+13A>T (n.2004+13A>T)
c.5139+13A>T (n.5139+13A>T)
c.5130+13A>T (n.5130+13A>T)
c.5121+13A>T (n.5121+13A>T)
c.5007+13A>T (n.5007+13A>T)
c.2991+13A>T (n.2991+13A>T)
c.681+13A>T (n.681+13A>T)
n.5380+13A>T
 dbSNP gnomAD v2 gnomAD v4
18g.23876421C>ACA2641292718LAMA3c.285+14C>A (n.285+14C>A)
c.5112+14C>A (n.5112+14C>A)
c.2004+14C>A (n.2004+14C>A)
c.5139+14C>A (n.5139+14C>A)
c.5130+14C>A (n.5130+14C>A)
c.5121+14C>A (n.5121+14C>A)
c.5007+14C>A (n.5007+14C>A)
c.2991+14C>A (n.2991+14C>A)
c.681+14C>A (n.681+14C>A)
n.5380+14C>A
 gnomAD v4
18g.23876421C>GCA2641292719LAMA3c.285+14C>G (n.285+14C>G)
c.5112+14C>G (n.5112+14C>G)
c.2004+14C>G (n.2004+14C>G)
c.5139+14C>G (n.5139+14C>G)
c.5130+14C>G (n.5130+14C>G)
c.5121+14C>G (n.5121+14C>G)
c.5007+14C>G (n.5007+14C>G)
c.2991+14C>G (n.2991+14C>G)
c.681+14C>G (n.681+14C>G)
n.5380+14C>G
 gnomAD v4
18g.23876422A>GCA2641292720LAMA3c.285+15A>G (n.285+15A>G)
c.5112+15A>G (n.5112+15A>G)
c.2004+15A>G (n.2004+15A>G)
c.5139+15A>G (n.5139+15A>G)
c.5130+15A>G (n.5130+15A>G)
c.5121+15A>G (n.5121+15A>G)
c.5007+15A>G (n.5007+15A>G)
c.2991+15A>G (n.2991+15A>G)
c.681+15A>G (n.681+15A>G)
n.5380+15A>G
 gnomAD v4
18g.23876423C>ACA2641292721LAMA3c.285+16C>A (n.285+16C>A)
c.5112+16C>A (n.5112+16C>A)
c.2004+16C>A (n.2004+16C>A)
c.5139+16C>A (n.5139+16C>A)
c.5130+16C>A (n.5130+16C>A)
c.5121+16C>A (n.5121+16C>A)
c.5007+16C>A (n.5007+16C>A)
c.2991+16C>A (n.2991+16C>A)
c.681+16C>A (n.681+16C>A)
n.5380+16C>A
 gnomAD v4
18g.23876423C=CA2290312373LAMA3c.285+16C= (n.285+16C=)
c.5112+16C= (n.5112+16C=)
c.2004+16C= (n.2004+16C=)
c.5139+16C= (n.5139+16C=)
c.5130+16C= (n.5130+16C=)
c.5121+16C= (n.5121+16C=)
c.5007+16C= (n.5007+16C=)
c.2991+16C= (n.2991+16C=)
c.681+16C= (n.681+16C=)
n.5380+16C=
18g.23876423C>TCA8915887LAMA3c.285+16C>T (n.285+16C>T)
c.5112+16C>T (n.5112+16C>T)
c.2004+16C>T (n.2004+16C>T)
c.5139+16C>T (n.5139+16C>T)
c.5130+16C>T (n.5130+16C>T)
c.5121+16C>T (n.5121+16C>T)
c.5007+16C>T (n.5007+16C>T)
c.2991+16C>T (n.2991+16C>T)
c.681+16C>T (n.681+16C>T)
n.5380+16C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.23876424T>GCA2576472630LAMA3c.285+17T>G (n.285+17T>G)
c.5112+17T>G (n.5112+17T>G)
c.2004+17T>G (n.2004+17T>G)
c.5139+17T>G (n.5139+17T>G)
c.5130+17T>G (n.5130+17T>G)
c.5121+17T>G (n.5121+17T>G)
c.5007+17T>G (n.5007+17T>G)
c.2991+17T>G (n.2991+17T>G)
c.681+17T>G (n.681+17T>G)
n.5380+17T>G
 gnomAD v4
18g.23876426T>ACA2576472631LAMA3c.285+19T>A (n.285+19T>A)
c.5112+19T>A (n.5112+19T>A)
c.2004+19T>A (n.2004+19T>A)
c.5139+19T>A (n.5139+19T>A)
c.5130+19T>A (n.5130+19T>A)
c.5121+19T>A (n.5121+19T>A)
c.5007+19T>A (n.5007+19T>A)
c.2991+19T>A (n.2991+19T>A)
c.681+19T>A (n.681+19T>A)
n.5380+19T>A
 gnomAD v4
18g.23876426T>CCA628681727LAMA3c.285+19T>C (n.285+19T>C)
c.5112+19T>C (n.5112+19T>C)
c.2004+19T>C (n.2004+19T>C)
c.5139+19T>C (n.5139+19T>C)
c.5130+19T>C (n.5130+19T>C)
c.5121+19T>C (n.5121+19T>C)
c.5007+19T>C (n.5007+19T>C)
c.2991+19T>C (n.2991+19T>C)
c.681+19T>C (n.681+19T>C)
n.5380+19T>C
 dbSNP gnomAD v2 gnomAD v4
18g.23876426T=CA2290312374LAMA3c.285+19T= (n.285+19T=)
c.5112+19T= (n.5112+19T=)
c.2004+19T= (n.2004+19T=)
c.5139+19T= (n.5139+19T=)
c.5130+19T= (n.5130+19T=)
c.5121+19T= (n.5121+19T=)
c.5007+19T= (n.5007+19T=)
c.2991+19T= (n.2991+19T=)
c.681+19T= (n.681+19T=)
n.5380+19T=
18g.23876427A>GCA2811822083LAMA3c.285+20A>G (n.285+20A>G)
c.5112+20A>G (n.5112+20A>G)
c.2004+20A>G (n.2004+20A>G)
c.5139+20A>G (n.5139+20A>G)
c.5130+20A>G (n.5130+20A>G)
c.5121+20A>G (n.5121+20A>G)
c.5007+20A>G (n.5007+20A>G)
c.2991+20A>G (n.2991+20A>G)
c.681+20A>G (n.681+20A>G)
n.5380+20A>G
18g.23876429T>CCA988419557LAMA3c.285+22T>C (n.285+22T>C)
c.5112+22T>C (n.5112+22T>C)
c.2004+22T>C (n.2004+22T>C)
c.5139+22T>C (n.5139+22T>C)
c.5130+22T>C (n.5130+22T>C)
c.5121+22T>C (n.5121+22T>C)
c.5007+22T>C (n.5007+22T>C)
c.2991+22T>C (n.2991+22T>C)
c.681+22T>C (n.681+22T>C)
n.5380+22T>C
 dbSNP gnomAD v3 gnomAD v4
18g.23876429T=CA2290312375LAMA3c.285+22T= (n.285+22T=)
c.5112+22T= (n.5112+22T=)
c.2004+22T= (n.2004+22T=)
c.5139+22T= (n.5139+22T=)
c.5130+22T= (n.5130+22T=)
c.5121+22T= (n.5121+22T=)
c.5007+22T= (n.5007+22T=)
c.2991+22T= (n.2991+22T=)
c.681+22T= (n.681+22T=)
n.5380+22T=
18g.23876430G>ACA2641292722LAMA3c.285+23G>A (n.285+23G>A)
c.5112+23G>A (n.5112+23G>A)
c.2004+23G>A (n.2004+23G>A)
c.5139+23G>A (n.5139+23G>A)
c.5130+23G>A (n.5130+23G>A)
c.5121+23G>A (n.5121+23G>A)
c.5007+23G>A (n.5007+23G>A)
c.2991+23G>A (n.2991+23G>A)
c.681+23G>A (n.681+23G>A)
n.5380+23G>A
 gnomAD v4
18g.23876430G=CA2290312376LAMA3c.285+23G= (n.285+23G=)
c.5112+23G= (n.5112+23G=)
c.2004+23G= (n.2004+23G=)
c.5139+23G= (n.5139+23G=)
c.5130+23G= (n.5130+23G=)
c.5121+23G= (n.5121+23G=)
c.5007+23G= (n.5007+23G=)
c.2991+23G= (n.2991+23G=)
c.681+23G= (n.681+23G=)
n.5380+23G=
18g.23876430G>TCA8915888LAMA3c.285+23G>T (n.285+23G>T)
c.5112+23G>T (n.5112+23G>T)
c.2004+23G>T (n.2004+23G>T)
c.5139+23G>T (n.5139+23G>T)
c.5130+23G>T (n.5130+23G>T)
c.5121+23G>T (n.5121+23G>T)
c.5007+23G>T (n.5007+23G>T)
c.2991+23G>T (n.2991+23G>T)
c.681+23G>T (n.681+23G>T)
n.5380+23G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23876431C>ACA2576472632LAMA3c.285+24C>A (n.285+24C>A)
c.5112+24C>A (n.5112+24C>A)
c.2004+24C>A (n.2004+24C>A)
c.5139+24C>A (n.5139+24C>A)
c.5130+24C>A (n.5130+24C>A)
c.5121+24C>A (n.5121+24C>A)
c.5007+24C>A (n.5007+24C>A)
c.2991+24C>A (n.2991+24C>A)
c.681+24C>A (n.681+24C>A)
n.5380+24C>A
 gnomAD v4
18g.23876431C=CA2290312377LAMA3c.285+24C= (n.285+24C=)
c.5112+24C= (n.5112+24C=)
c.2004+24C= (n.2004+24C=)
c.5139+24C= (n.5139+24C=)
c.5130+24C= (n.5130+24C=)
c.5121+24C= (n.5121+24C=)
c.5007+24C= (n.5007+24C=)
c.2991+24C= (n.2991+24C=)
c.681+24C= (n.681+24C=)
n.5380+24C=
18g.23876431C>TCA8915889LAMA3c.285+24C>T (n.285+24C>T)
c.5112+24C>T (n.5112+24C>T)
c.2004+24C>T (n.2004+24C>T)
c.5139+24C>T (n.5139+24C>T)
c.5130+24C>T (n.5130+24C>T)
c.5121+24C>T (n.5121+24C>T)
c.5007+24C>T (n.5007+24C>T)
c.2991+24C>T (n.2991+24C>T)
c.681+24C>T (n.681+24C>T)
n.5380+24C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23876432T>ACA2576472633LAMA3c.285+25T>A (n.285+25T>A)
c.5112+25T>A (n.5112+25T>A)
c.2004+25T>A (n.2004+25T>A)
c.5139+25T>A (n.5139+25T>A)
c.5130+25T>A (n.5130+25T>A)
c.5121+25T>A (n.5121+25T>A)
c.5007+25T>A (n.5007+25T>A)
c.2991+25T>A (n.2991+25T>A)
c.681+25T>A (n.681+25T>A)
n.5380+25T>A
18g.23876433A=CA2290312378LAMA3c.285+26A= (n.285+26A=)
c.5112+26A= (n.5112+26A=)
c.2004+26A= (n.2004+26A=)
c.5139+26A= (n.5139+26A=)
c.5130+26A= (n.5130+26A=)
c.5121+26A= (n.5121+26A=)
c.5007+26A= (n.5007+26A=)
c.2991+26A= (n.2991+26A=)
c.681+26A= (n.681+26A=)
n.5380+26A=
18g.23876433A>GCA8915890LAMA3c.285+26A>G (n.285+26A>G)
c.5112+26A>G (n.5112+26A>G)
c.2004+26A>G (n.2004+26A>G)
c.5139+26A>G (n.5139+26A>G)
c.5130+26A>G (n.5130+26A>G)
c.5121+26A>G (n.5121+26A>G)
c.5007+26A>G (n.5007+26A>G)
c.2991+26A>G (n.2991+26A>G)
c.681+26A>G (n.681+26A>G)
n.5380+26A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23876435C>ACA2576472634LAMA3c.285+28C>A (n.285+28C>A)
c.5112+28C>A (n.5112+28C>A)
c.2004+28C>A (n.2004+28C>A)
c.5139+28C>A (n.5139+28C>A)
c.5130+28C>A (n.5130+28C>A)
c.5121+28C>A (n.5121+28C>A)
c.5007+28C>A (n.5007+28C>A)
c.2991+28C>A (n.2991+28C>A)
c.681+28C>A (n.681+28C>A)
n.5380+28C>A
 gnomAD v4
18g.23876435C=CA2290312379LAMA3c.285+28C= (n.285+28C=)
c.5112+28C= (n.5112+28C=)
c.2004+28C= (n.2004+28C=)
c.5139+28C= (n.5139+28C=)
c.5130+28C= (n.5130+28C=)
c.5121+28C= (n.5121+28C=)
c.5007+28C= (n.5007+28C=)
c.2991+28C= (n.2991+28C=)
c.681+28C= (n.681+28C=)
n.5380+28C=
18g.23876435C>GCA988419559LAMA3c.285+28C>G (n.285+28C>G)
c.5112+28C>G (n.5112+28C>G)
c.2004+28C>G (n.2004+28C>G)
c.5139+28C>G (n.5139+28C>G)
c.5130+28C>G (n.5130+28C>G)
c.5121+28C>G (n.5121+28C>G)
c.5007+28C>G (n.5007+28C>G)
c.2991+28C>G (n.2991+28C>G)
c.681+28C>G (n.681+28C>G)
n.5380+28C>G
 dbSNP gnomAD v3 gnomAD v4
18g.23876436A>GCA2576472635LAMA3c.285+29A>G (n.285+29A>G)
c.5112+29A>G (n.5112+29A>G)
c.2004+29A>G (n.2004+29A>G)
c.5139+29A>G (n.5139+29A>G)
c.5130+29A>G (n.5130+29A>G)
c.5121+29A>G (n.5121+29A>G)
c.5007+29A>G (n.5007+29A>G)
c.2991+29A>G (n.2991+29A>G)
c.681+29A>G (n.681+29A>G)
n.5380+29A>G
 gnomAD v4
18g.23876437G>ACA2641292723LAMA3c.285+30G>A (n.285+30G>A)
c.5112+30G>A (n.5112+30G>A)
c.2004+30G>A (n.2004+30G>A)
c.5139+30G>A (n.5139+30G>A)
c.5130+30G>A (n.5130+30G>A)
c.5121+30G>A (n.5121+30G>A)
c.5007+30G>A (n.5007+30G>A)
c.2991+30G>A (n.2991+30G>A)
c.681+30G>A (n.681+30G>A)
n.5380+30G>A
 gnomAD v4
18g.23876437G>CCA8915891LAMA3c.285+30G>C (n.285+30G>C)
c.5112+30G>C (n.5112+30G>C)
c.2004+30G>C (n.2004+30G>C)
c.5139+30G>C (n.5139+30G>C)
c.5130+30G>C (n.5130+30G>C)
c.5121+30G>C (n.5121+30G>C)
c.5007+30G>C (n.5007+30G>C)
c.2991+30G>C (n.2991+30G>C)
c.681+30G>C (n.681+30G>C)
n.5380+30G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23876437G=CA2290312380LAMA3c.285+30G= (n.285+30G=)
c.5112+30G= (n.5112+30G=)
c.2004+30G= (n.2004+30G=)
c.5139+30G= (n.5139+30G=)
c.5130+30G= (n.5130+30G=)
c.5121+30G= (n.5121+30G=)
c.5007+30G= (n.5007+30G=)
c.2991+30G= (n.2991+30G=)
c.681+30G= (n.681+30G=)
n.5380+30G=
18g.23876438C>ACA2576472636LAMA3c.285+31C>A (n.285+31C>A)
c.5112+31C>A (n.5112+31C>A)
c.2004+31C>A (n.2004+31C>A)
c.5139+31C>A (n.5139+31C>A)
c.5130+31C>A (n.5130+31C>A)
c.5121+31C>A (n.5121+31C>A)
c.5007+31C>A (n.5007+31C>A)
c.2991+31C>A (n.2991+31C>A)
c.681+31C>A (n.681+31C>A)
n.5380+31C>A
 gnomAD v4
18g.23876438C=CA2290312381LAMA3c.285+31C= (n.285+31C=)
c.5112+31C= (n.5112+31C=)
c.2004+31C= (n.2004+31C=)
c.5139+31C= (n.5139+31C=)
c.5130+31C= (n.5130+31C=)
c.5121+31C= (n.5121+31C=)
c.5007+31C= (n.5007+31C=)
c.2991+31C= (n.2991+31C=)
c.681+31C= (n.681+31C=)
n.5380+31C=
18g.23876438C>TCA628681842LAMA3c.285+31C>T (n.285+31C>T)
c.5112+31C>T (n.5112+31C>T)
c.2004+31C>T (n.2004+31C>T)
c.5139+31C>T (n.5139+31C>T)
c.5130+31C>T (n.5130+31C>T)
c.5121+31C>T (n.5121+31C>T)
c.5007+31C>T (n.5007+31C>T)
c.2991+31C>T (n.2991+31C>T)
c.681+31C>T (n.681+31C>T)
n.5380+31C>T
 dbSNP gnomAD v2 gnomAD v4
18g.23876442C>ACA2576472637LAMA3c.285+35C>A (n.285+35C>A)
c.5112+35C>A (n.5112+35C>A)
c.2004+35C>A (n.2004+35C>A)
c.5139+35C>A (n.5139+35C>A)
c.5130+35C>A (n.5130+35C>A)
c.5121+35C>A (n.5121+35C>A)
c.5007+35C>A (n.5007+35C>A)
c.2991+35C>A (n.2991+35C>A)
c.681+35C>A (n.681+35C>A)
n.5380+35C>A
 gnomAD v4
18g.23876442_23876443delinsCACA2290312382LAMA3c.285+35_285+36delinsCA (n.285+35_285+36delinsCA)
c.5112+35_5112+36delinsCA (n.5112+35_5112+36delinsCA)
c.2004+35_2004+36delinsCA (n.2004+35_2004+36delinsCA)
c.5139+35_5139+36delinsCA (n.5139+35_5139+36delinsCA)
c.5130+35_5130+36delinsCA (n.5130+35_5130+36delinsCA)
c.5121+35_5121+36delinsCA (n.5121+35_5121+36delinsCA)
c.5007+35_5007+36delinsCA (n.5007+35_5007+36delinsCA)
c.2991+35_2991+36delinsCA (n.2991+35_2991+36delinsCA)
c.681+35_681+36delinsCA (n.681+35_681+36delinsCA)
n.5380+35_5380+36delinsCA
18g.23876443A=CA2290312383LAMA3c.285+36A= (n.285+36A=)
c.5112+36A= (n.5112+36A=)
c.2004+36A= (n.2004+36A=)
c.5139+36A= (n.5139+36A=)
c.5130+36A= (n.5130+36A=)
c.5121+36A= (n.5121+36A=)
c.5007+36A= (n.5007+36A=)
c.2991+36A= (n.2991+36A=)
c.681+36A= (n.681+36A=)
n.5380+36A=
18g.23876443A>GCA777750494LAMA3c.285+36A>G (n.285+36A>G)
c.5112+36A>G (n.5112+36A>G)
c.2004+36A>G (n.2004+36A>G)
c.5139+36A>G (n.5139+36A>G)
c.5130+36A>G (n.5130+36A>G)
c.5121+36A>G (n.5121+36A>G)
c.5007+36A>G (n.5007+36A>G)
c.2991+36A>G (n.2991+36A>G)
c.681+36A>G (n.681+36A>G)
n.5380+36A>G
 dbSNP gnomAD v4
18g.23876444dupCA2811822084LAMA3c.285+37dup (n.285+37dup)
c.5112+37dup (n.5112+37dup)
c.2004+37dup (n.2004+37dup)
c.5139+37dup (n.5139+37dup)
c.5130+37dup (n.5130+37dup)
c.5121+37dup (n.5121+37dup)
c.5007+37dup (n.5007+37dup)
c.2991+37dup (n.2991+37dup)
c.681+37dup (n.681+37dup)
n.5380+37dup
18g.23876444delCA8915892LAMA3c.285+37del (n.285+37del)
c.5112+37del (n.5112+37del)
c.2004+37del (n.2004+37del)
c.5139+37del (n.5139+37del)
c.5130+37del (n.5130+37del)
c.5121+37del (n.5121+37del)
c.5007+37del (n.5007+37del)
c.2991+37del (n.2991+37del)
c.681+37del (n.681+37del)
n.5380+37del
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23876444A=CA2290312384LAMA3c.285+37A= (n.285+37A=)
c.5112+37A= (n.5112+37A=)
c.2004+37A= (n.2004+37A=)
c.5139+37A= (n.5139+37A=)
c.5130+37A= (n.5130+37A=)
c.5121+37A= (n.5121+37A=)
c.5007+37A= (n.5007+37A=)
c.2991+37A= (n.2991+37A=)
c.681+37A= (n.681+37A=)
n.5380+37A=
18g.23876444A>GCA8915893LAMA3c.285+37A>G (n.285+37A>G)
c.5112+37A>G (n.5112+37A>G)
c.2004+37A>G (n.2004+37A>G)
c.5139+37A>G (n.5139+37A>G)
c.5130+37A>G (n.5130+37A>G)
c.5121+37A>G (n.5121+37A>G)
c.5007+37A>G (n.5007+37A>G)
c.2991+37A>G (n.2991+37A>G)
c.681+37A>G (n.681+37A>G)
n.5380+37A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23876445T>CCA2641292725LAMA3c.285+38T>C (n.285+38T>C)
c.5112+38T>C (n.5112+38T>C)
c.2004+38T>C (n.2004+38T>C)
c.5139+38T>C (n.5139+38T>C)
c.5130+38T>C (n.5130+38T>C)
c.5121+38T>C (n.5121+38T>C)
c.5007+38T>C (n.5007+38T>C)
c.2991+38T>C (n.2991+38T>C)
c.681+38T>C (n.681+38T>C)
n.5380+38T>C
 gnomAD v4
18g.23876446C>ACA2576472638LAMA3c.285+39C>A (n.285+39C>A)
c.5112+39C>A (n.5112+39C>A)
c.2004+39C>A (n.2004+39C>A)
c.5139+39C>A (n.5139+39C>A)
c.5130+39C>A (n.5130+39C>A)
c.5121+39C>A (n.5121+39C>A)
c.5007+39C>A (n.5007+39C>A)
c.2991+39C>A (n.2991+39C>A)
c.681+39C>A (n.681+39C>A)
n.5380+39C>A
 gnomAD v4
18g.23876446C=CA2290312385LAMA3c.285+39C= (n.285+39C=)
c.5112+39C= (n.5112+39C=)
c.2004+39C= (n.2004+39C=)
c.5139+39C= (n.5139+39C=)
c.5130+39C= (n.5130+39C=)
c.5121+39C= (n.5121+39C=)
c.5007+39C= (n.5007+39C=)
c.2991+39C= (n.2991+39C=)
c.681+39C= (n.681+39C=)
n.5380+39C=
18g.23876446C>TCA777750499LAMA3c.285+39C>T (n.285+39C>T)
c.5112+39C>T (n.5112+39C>T)
c.2004+39C>T (n.2004+39C>T)
c.5139+39C>T (n.5139+39C>T)
c.5130+39C>T (n.5130+39C>T)
c.5121+39C>T (n.5121+39C>T)
c.5007+39C>T (n.5007+39C>T)
c.2991+39C>T (n.2991+39C>T)
c.681+39C>T (n.681+39C>T)
n.5380+39C>T
 dbSNP
18g.23876447T>ACA2641292726LAMA3c.285+40T>A (n.285+40T>A)
c.5112+40T>A (n.5112+40T>A)
c.2004+40T>A (n.2004+40T>A)
c.5139+40T>A (n.5139+40T>A)
c.5130+40T>A (n.5130+40T>A)
c.5121+40T>A (n.5121+40T>A)
c.5007+40T>A (n.5007+40T>A)
c.2991+40T>A (n.2991+40T>A)
c.681+40T>A (n.681+40T>A)
n.5380+40T>A
 gnomAD v4
18g.23876449T>CCA2641292727LAMA3c.285+42T>C (n.285+42T>C)
c.5112+42T>C (n.5112+42T>C)
c.2004+42T>C (n.2004+42T>C)
c.5139+42T>C (n.5139+42T>C)
c.5130+42T>C (n.5130+42T>C)
c.5121+42T>C (n.5121+42T>C)
c.5007+42T>C (n.5007+42T>C)
c.2991+42T>C (n.2991+42T>C)
c.681+42T>C (n.681+42T>C)
n.5380+42T>C
 gnomAD v4
18g.23876451T>CCA297091429LAMA3c.285+44T>C (n.285+44T>C)
c.5112+44T>C (n.5112+44T>C)
c.2004+44T>C (n.2004+44T>C)
c.5139+44T>C (n.5139+44T>C)
c.5130+44T>C (n.5130+44T>C)
c.5121+44T>C (n.5121+44T>C)
c.5007+44T>C (n.5007+44T>C)
c.2991+44T>C (n.2991+44T>C)
c.681+44T>C (n.681+44T>C)
n.5380+44T>C
 dbSNP
18g.23876451T=CA2290312386LAMA3c.285+44T= (n.285+44T=)
c.5112+44T= (n.5112+44T=)
c.2004+44T= (n.2004+44T=)
c.5139+44T= (n.5139+44T=)
c.5130+44T= (n.5130+44T=)
c.5121+44T= (n.5121+44T=)
c.5007+44T= (n.5007+44T=)
c.2991+44T= (n.2991+44T=)
c.681+44T= (n.681+44T=)
n.5380+44T=
18g.23876452C>ACA2576472639LAMA3c.285+45C>A (n.285+45C>A)
c.5112+45C>A (n.5112+45C>A)
c.2004+45C>A (n.2004+45C>A)
c.5139+45C>A (n.5139+45C>A)
c.5130+45C>A (n.5130+45C>A)
c.5121+45C>A (n.5121+45C>A)
c.5007+45C>A (n.5007+45C>A)
c.2991+45C>A (n.2991+45C>A)
c.681+45C>A (n.681+45C>A)
n.5380+45C>A
 gnomAD v4
18g.23876452C=CA2290312387LAMA3c.285+45C= (n.285+45C=)
c.5112+45C= (n.5112+45C=)
c.2004+45C= (n.2004+45C=)
c.5139+45C= (n.5139+45C=)
c.5130+45C= (n.5130+45C=)
c.5121+45C= (n.5121+45C=)
c.5007+45C= (n.5007+45C=)
c.2991+45C= (n.2991+45C=)
c.681+45C= (n.681+45C=)
n.5380+45C=
18g.23876452C>TCA8915894LAMA3c.285+45C>T (n.285+45C>T)
c.5112+45C>T (n.5112+45C>T)
c.2004+45C>T (n.2004+45C>T)
c.5139+45C>T (n.5139+45C>T)
c.5130+45C>T (n.5130+45C>T)
c.5121+45C>T (n.5121+45C>T)
c.5007+45C>T (n.5007+45C>T)
c.2991+45C>T (n.2991+45C>T)
c.681+45C>T (n.681+45C>T)
n.5380+45C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23876454C>ACA2576472640LAMA3c.285+47C>A (n.285+47C>A)
c.5112+47C>A (n.5112+47C>A)
c.2004+47C>A (n.2004+47C>A)
c.5139+47C>A (n.5139+47C>A)
c.5130+47C>A (n.5130+47C>A)
c.5121+47C>A (n.5121+47C>A)
c.5007+47C>A (n.5007+47C>A)
c.2991+47C>A (n.2991+47C>A)
c.681+47C>A (n.681+47C>A)
n.5380+47C>A
18g.23876455C>ACA2576472641LAMA3c.285+48C>A (n.285+48C>A)
c.5112+48C>A (n.5112+48C>A)
c.2004+48C>A (n.2004+48C>A)
c.5139+48C>A (n.5139+48C>A)
c.5130+48C>A (n.5130+48C>A)
c.5121+48C>A (n.5121+48C>A)
c.5007+48C>A (n.5007+48C>A)
c.2991+48C>A (n.2991+48C>A)
c.681+48C>A (n.681+48C>A)
n.5380+48C>A
18g.23876455C=CA2290312388LAMA3c.285+48C= (n.285+48C=)
c.5112+48C= (n.5112+48C=)
c.2004+48C= (n.2004+48C=)
c.5139+48C= (n.5139+48C=)
c.5130+48C= (n.5130+48C=)
c.5121+48C= (n.5121+48C=)
c.5007+48C= (n.5007+48C=)
c.2991+48C= (n.2991+48C=)
c.681+48C= (n.681+48C=)
n.5380+48C=
18g.23876455C>TCA777750511LAMA3c.285+48C>T (n.285+48C>T)
c.5112+48C>T (n.5112+48C>T)
c.2004+48C>T (n.2004+48C>T)
c.5139+48C>T (n.5139+48C>T)
c.5130+48C>T (n.5130+48C>T)
c.5121+48C>T (n.5121+48C>T)
c.5007+48C>T (n.5007+48C>T)
c.2991+48C>T (n.2991+48C>T)
c.681+48C>T (n.681+48C>T)
n.5380+48C>T
 dbSNP gnomAD v3 gnomAD v4
18g.23876456T>CCA297091430LAMA3c.285+49T>C (n.285+49T>C)
c.5112+49T>C (n.5112+49T>C)
c.2004+49T>C (n.2004+49T>C)
c.5139+49T>C (n.5139+49T>C)
c.5130+49T>C (n.5130+49T>C)
c.5121+49T>C (n.5121+49T>C)
c.5007+49T>C (n.5007+49T>C)
c.2991+49T>C (n.2991+49T>C)
c.681+49T>C (n.681+49T>C)
n.5380+49T>C
 dbSNP gnomAD v2 gnomAD v4
18g.23876456T=CA2290312389LAMA3c.285+49T= (n.285+49T=)
c.5112+49T= (n.5112+49T=)
c.2004+49T= (n.2004+49T=)
c.5139+49T= (n.5139+49T=)
c.5130+49T= (n.5130+49T=)
c.5121+49T= (n.5121+49T=)
c.5007+49T= (n.5007+49T=)
c.2991+49T= (n.2991+49T=)
c.681+49T= (n.681+49T=)
n.5380+49T=
18g.23876457C>TCA503328002LAMA3c.285+50C>T (n.285+50C>T)
c.5112+50C>T (n.5112+50C>T)
c.2004+50C>T (n.2004+50C>T)
c.5139+50C>T (n.5139+50C>T)
c.5130+50C>T (n.5130+50C>T)
c.5121+50C>T (n.5121+50C>T)
c.5007+50C>T (n.5007+50C>T)
c.2991+50C>T (n.2991+50C>T)
c.681+50C>T (n.681+50C>T)
n.5380+50C>T
18g.23876458C>ACA2641292728LAMA3c.285+51C>A (n.285+51C>A)
c.5112+51C>A (n.5112+51C>A)
c.2004+51C>A (n.2004+51C>A)
c.5139+51C>A (n.5139+51C>A)
c.5130+51C>A (n.5130+51C>A)
c.5121+51C>A (n.5121+51C>A)
c.5007+51C>A (n.5007+51C>A)
c.2991+51C>A (n.2991+51C>A)
c.681+51C>A (n.681+51C>A)
n.5380+51C>A
 gnomAD v4
18g.23876458C>TCA2641292729LAMA3c.285+51C>T (n.285+51C>T)
c.5112+51C>T (n.5112+51C>T)
c.2004+51C>T (n.2004+51C>T)
c.5139+51C>T (n.5139+51C>T)
c.5130+51C>T (n.5130+51C>T)
c.5121+51C>T (n.5121+51C>T)
c.5007+51C>T (n.5007+51C>T)
c.2991+51C>T (n.2991+51C>T)
c.681+51C>T (n.681+51C>T)
n.5380+51C>T
 gnomAD v4

Number of alleles fetched