Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.23876349T>ACA402044964LAMA3c.227T>A (p.Val76Asp)
c.5054T>A (p.Val1685Asp)
c.1946T>A (p.Val649Asp)
c.5081T>A (p.Val1694Asp)
c.5072T>A (p.Val1691Asp)
c.5063T>A (p.Val1688Asp)
c.4949T>A (p.Val1650Asp)
c.2933T>A (p.Val978Asp)
c.623T>A (p.Val208Asp)
n.5322T>A
18g.23876349T>CCA402044965LAMA3c.227T>C (p.Val76Ala)
c.5054T>C (p.Val1685Ala)
c.1946T>C (p.Val649Ala)
c.5081T>C (p.Val1694Ala)
c.5072T>C (p.Val1691Ala)
c.5063T>C (p.Val1688Ala)
c.4949T>C (p.Val1650Ala)
c.2933T>C (p.Val978Ala)
c.623T>C (p.Val208Ala)
n.5322T>C
18g.23876349T>GCA402044966LAMA3c.227T>G (p.Val76Gly)
c.5054T>G (p.Val1685Gly)
c.1946T>G (p.Val649Gly)
c.5081T>G (p.Val1694Gly)
c.5072T>G (p.Val1691Gly)
c.5063T>G (p.Val1688Gly)
c.4949T>G (p.Val1650Gly)
c.2933T>G (p.Val978Gly)
c.623T>G (p.Val208Gly)
n.5322T>G
18g.23876350T>ACA503327886LAMA3c.228T>A (p.Val76=)
c.5055T>A (p.Val1685=)
c.1947T>A (p.Val649=)
c.5082T>A (p.Val1694=)
c.5073T>A (p.Val1691=)
c.5064T>A (p.Val1688=)
c.4950T>A (p.Val1650=)
c.2934T>A (p.Val978=)
c.624T>A (p.Val208=)
n.5323T>A
18g.23876350T>CCA503327887LAMA3c.228T>C (p.Val76=)
c.5055T>C (p.Val1685=)
c.1947T>C (p.Val649=)
c.5082T>C (p.Val1694=)
c.5073T>C (p.Val1691=)
c.5064T>C (p.Val1688=)
c.4950T>C (p.Val1650=)
c.2934T>C (p.Val978=)
c.624T>C (p.Val208=)
n.5323T>C
18g.23876350T>GCA503327888LAMA3c.228T>G (p.Val76=)
c.5055T>G (p.Val1685=)
c.1947T>G (p.Val649=)
c.5082T>G (p.Val1694=)
c.5073T>G (p.Val1691=)
c.5064T>G (p.Val1688=)
c.4950T>G (p.Val1650=)
c.2934T>G (p.Val978=)
c.624T>G (p.Val208=)
n.5323T>G
18g.23876351C>ACA402044967LAMA3c.229C>A (p.Pro77Thr)
c.5056C>A (p.Pro1686Thr)
c.1948C>A (p.Pro650Thr)
c.5083C>A (p.Pro1695Thr)
c.5074C>A (p.Pro1692Thr)
c.5065C>A (p.Pro1689Thr)
c.4951C>A (p.Pro1651Thr)
c.2935C>A (p.Pro979Thr)
c.625C>A (p.Pro209Thr)
n.5324C>A
18g.23876351C>GCA402044968LAMA3c.229C>G (p.Pro77Ala)
c.5056C>G (p.Pro1686Ala)
c.1948C>G (p.Pro650Ala)
c.5083C>G (p.Pro1695Ala)
c.5074C>G (p.Pro1692Ala)
c.5065C>G (p.Pro1689Ala)
c.4951C>G (p.Pro1651Ala)
c.2935C>G (p.Pro979Ala)
c.625C>G (p.Pro209Ala)
n.5324C>G
18g.23876351C>TCA402044969LAMA3c.229C>T (p.Pro77Ser)
c.5056C>T (p.Pro1686Ser)
c.1948C>T (p.Pro650Ser)
c.5083C>T (p.Pro1695Ser)
c.5074C>T (p.Pro1692Ser)
c.5065C>T (p.Pro1689Ser)
c.4951C>T (p.Pro1651Ser)
c.2935C>T (p.Pro979Ser)
c.625C>T (p.Pro209Ser)
n.5324C>T
18g.23876352C>ACA402044972LAMA3c.230C>A (p.Pro77His)
c.5057C>A (p.Pro1686His)
c.1949C>A (p.Pro650His)
c.5084C>A (p.Pro1695His)
c.5075C>A (p.Pro1692His)
c.5066C>A (p.Pro1689His)
c.4952C>A (p.Pro1651His)
c.2936C>A (p.Pro979His)
c.626C>A (p.Pro209His)
n.5325C>A
18g.23876352C>GCA402044970LAMA3c.230C>G (p.Pro77Arg)
c.5057C>G (p.Pro1686Arg)
c.1949C>G (p.Pro650Arg)
c.5084C>G (p.Pro1695Arg)
c.5075C>G (p.Pro1692Arg)
c.5066C>G (p.Pro1689Arg)
c.4952C>G (p.Pro1651Arg)
c.2936C>G (p.Pro979Arg)
c.626C>G (p.Pro209Arg)
n.5325C>G
18g.23876352C>TCA402044971LAMA3c.230C>T (p.Pro77Leu)
c.5057C>T (p.Pro1686Leu)
c.1949C>T (p.Pro650Leu)
c.5084C>T (p.Pro1695Leu)
c.5075C>T (p.Pro1692Leu)
c.5066C>T (p.Pro1689Leu)
c.4952C>T (p.Pro1651Leu)
c.2936C>T (p.Pro979Leu)
c.626C>T (p.Pro209Leu)
n.5325C>T
18g.23876353C>ACA503327890LAMA3c.231C>A (p.Pro77=)
c.5058C>A (p.Pro1686=)
c.1950C>A (p.Pro650=)
c.5085C>A (p.Pro1695=)
c.5076C>A (p.Pro1692=)
c.5067C>A (p.Pro1689=)
c.4953C>A (p.Pro1651=)
c.2937C>A (p.Pro979=)
c.627C>A (p.Pro209=)
n.5326C>A
18g.23876353C=CA2290312346LAMA3c.231C= (p.Pro77=)
c.5058C= (p.Pro1686=)
c.1950C= (p.Pro650=)
c.5085C= (p.Pro1695=)
c.5076C= (p.Pro1692=)
c.5067C= (p.Pro1689=)
c.4953C= (p.Pro1651=)
c.2937C= (p.Pro979=)
c.627C= (p.Pro209=)
n.5326C=
18g.23876353C>GCA503327891LAMA3c.231C>G (p.Pro77=)
c.5058C>G (p.Pro1686=)
c.1950C>G (p.Pro650=)
c.5085C>G (p.Pro1695=)
c.5076C>G (p.Pro1692=)
c.5067C>G (p.Pro1689=)
c.4953C>G (p.Pro1651=)
c.2937C>G (p.Pro979=)
c.627C>G (p.Pro209=)
n.5326C>G
18g.23876353C>TCA8915875LAMA3c.231C>T (p.Pro77=)
c.5058C>T (p.Pro1686=)
c.1950C>T (p.Pro650=)
c.5085C>T (p.Pro1695=)
c.5076C>T (p.Pro1692=)
c.5067C>T (p.Pro1689=)
c.4953C>T (p.Pro1651=)
c.2937C>T (p.Pro979=)
c.627C>T (p.Pro209=)
n.5326C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23876354T>ACA402044973LAMA3c.232T>A (p.Cys78Ser)
c.5059T>A (p.Cys1687Ser)
c.1951T>A (p.Cys651Ser)
c.5086T>A (p.Cys1696Ser)
c.5077T>A (p.Cys1693Ser)
c.5068T>A (p.Cys1690Ser)
c.4954T>A (p.Cys1652Ser)
c.2938T>A (p.Cys980Ser)
c.628T>A (p.Cys210Ser)
n.5327T>A
18g.23876354T>CCA402044974LAMA3c.232T>C (p.Cys78Arg)
c.5059T>C (p.Cys1687Arg)
c.1951T>C (p.Cys651Arg)
c.5086T>C (p.Cys1696Arg)
c.5077T>C (p.Cys1693Arg)
c.5068T>C (p.Cys1690Arg)
c.4954T>C (p.Cys1652Arg)
c.2938T>C (p.Cys980Arg)
c.628T>C (p.Cys210Arg)
n.5327T>C
18g.23876354T>GCA402044975LAMA3c.232T>G (p.Cys78Gly)
c.5059T>G (p.Cys1687Gly)
c.1951T>G (p.Cys651Gly)
c.5086T>G (p.Cys1696Gly)
c.5077T>G (p.Cys1693Gly)
c.5068T>G (p.Cys1690Gly)
c.4954T>G (p.Cys1652Gly)
c.2938T>G (p.Cys980Gly)
c.628T>G (p.Cys210Gly)
n.5327T>G
18g.23876355G>ACA402044976LAMA3c.233G>A (p.Cys78Tyr)
c.5060G>A (p.Cys1687Tyr)
c.1952G>A (p.Cys651Tyr)
c.5087G>A (p.Cys1696Tyr)
c.5078G>A (p.Cys1693Tyr)
c.5069G>A (p.Cys1690Tyr)
c.4955G>A (p.Cys1652Tyr)
c.2939G>A (p.Cys980Tyr)
c.629G>A (p.Cys210Tyr)
n.5328G>A
18g.23876355G>CCA402044977LAMA3c.233G>C (p.Cys78Ser)
c.5060G>C (p.Cys1687Ser)
c.1952G>C (p.Cys651Ser)
c.5087G>C (p.Cys1696Ser)
c.5078G>C (p.Cys1693Ser)
c.5069G>C (p.Cys1690Ser)
c.4955G>C (p.Cys1652Ser)
c.2939G>C (p.Cys980Ser)
c.629G>C (p.Cys210Ser)
n.5328G>C
18g.23876355G>TCA402044978LAMA3c.233G>T (p.Cys78Phe)
c.5060G>T (p.Cys1687Phe)
c.1952G>T (p.Cys651Phe)
c.5087G>T (p.Cys1696Phe)
c.5078G>T (p.Cys1693Phe)
c.5069G>T (p.Cys1690Phe)
c.4955G>T (p.Cys1652Phe)
c.2939G>T (p.Cys980Phe)
c.629G>T (p.Cys210Phe)
n.5328G>T
18g.23876356C>ACA402044979LAMA3c.234C>A (p.Cys78Ter)
c.5061C>A (p.Cys1687Ter)
c.1953C>A (p.Cys651Ter)
c.5088C>A (p.Cys1696Ter)
c.5079C>A (p.Cys1693Ter)
c.5070C>A (p.Cys1690Ter)
c.4956C>A (p.Cys1652Ter)
c.2940C>A (p.Cys980Ter)
c.630C>A (p.Cys210Ter)
n.5329C>A
 ClinVar dbSNP
18g.23876356C>GCA402044980LAMA3c.234C>G (p.Cys78Trp)
c.5061C>G (p.Cys1687Trp)
c.1953C>G (p.Cys651Trp)
c.5088C>G (p.Cys1696Trp)
c.5079C>G (p.Cys1693Trp)
c.5070C>G (p.Cys1690Trp)
c.4956C>G (p.Cys1652Trp)
c.2940C>G (p.Cys980Trp)
c.630C>G (p.Cys210Trp)
n.5329C>G
18g.23876356C>TCA503327894LAMA3c.234C>T (p.Cys78=)
c.5061C>T (p.Cys1687=)
c.1953C>T (p.Cys651=)
c.5088C>T (p.Cys1696=)
c.5079C>T (p.Cys1693=)
c.5070C>T (p.Cys1690=)
c.4956C>T (p.Cys1652=)
c.2940C>T (p.Cys980=)
c.630C>T (p.Cys210=)
n.5329C>T
 gnomAD v4
18g.23876357A=CA2290312347LAMA3c.235A= (p.Asn79=)
c.5062A= (p.Asn1688=)
c.1954A= (p.Asn652=)
c.5089A= (p.Asn1697=)
c.5080A= (p.Asn1694=)
c.5071A= (p.Asn1691=)
c.4957A= (p.Asn1653=)
c.2941A= (p.Asn981=)
c.631A= (p.Asn211=)
n.5330A=
18g.23876357A>CCA402044981LAMA3c.235A>C (p.Asn79His)
c.5062A>C (p.Asn1688His)
c.1954A>C (p.Asn652His)
c.5089A>C (p.Asn1697His)
c.5080A>C (p.Asn1694His)
c.5071A>C (p.Asn1691His)
c.4957A>C (p.Asn1653His)
c.2941A>C (p.Asn981His)
c.631A>C (p.Asn211His)
n.5330A>C
18g.23876357A>GCA402044982LAMA3c.235A>G (p.Asn79Asp)
c.5062A>G (p.Asn1688Asp)
c.1954A>G (p.Asn652Asp)
c.5089A>G (p.Asn1697Asp)
c.5080A>G (p.Asn1694Asp)
c.5071A>G (p.Asn1691Asp)
c.4957A>G (p.Asn1653Asp)
c.2941A>G (p.Asn981Asp)
c.631A>G (p.Asn211Asp)
n.5330A>G
 dbSNP gnomAD v3 gnomAD v4
18g.23876357A>TCA402044983LAMA3c.235A>T (p.Asn79Tyr)
c.5062A>T (p.Asn1688Tyr)
c.1954A>T (p.Asn652Tyr)
c.5089A>T (p.Asn1697Tyr)
c.5080A>T (p.Asn1694Tyr)
c.5071A>T (p.Asn1691Tyr)
c.4957A>T (p.Asn1653Tyr)
c.2941A>T (p.Asn981Tyr)
c.631A>T (p.Asn211Tyr)
n.5330A>T
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

Number of alleles fetched