Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.209625704delCA2573051471LAMB3c.1923del (p.Ala642GlnfsTer?)
c.1731del (p.Ala578GlnfsTer?)
 dbSNP
1g.209625702G>ACA344589126LAMB3c.1922C>T (p.Pro641Leu)
c.1730C>T (p.Pro577Leu)
 COSMIC
1g.209625702G>CCA344589125LAMB3c.1922C>G (p.Pro641Arg)
c.1730C>G (p.Pro577Arg)
1g.209625702G>TCA344589127LAMB3c.1922C>A (p.Pro641His)
c.1730C>A (p.Pro577His)
1g.209625703G>ACA1375429LAMB3c.1921C>T (p.Pro641Ser)
c.1729C>T (p.Pro577Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.209625703G>CCA344589128LAMB3c.1921C>G (p.Pro641Ala)
c.1729C>G (p.Pro577Ala)
1g.209625703G=CA2484299206LAMB3c.1921C= (p.Pro641=)
c.1729C= (p.Pro577=)
1g.209625703G>TCA344589129LAMB3c.1921C>A (p.Pro641Thr)
c.1729C>A (p.Pro577Thr)
 dbSNP gnomAD v2 gnomAD v4
1g.209625704G>ACA423142578LAMB3c.1920C>T (p.Ser640=)
c.1728C>T (p.Ser576=)
1g.209625704G>CCA344589130LAMB3c.1920C>G (p.Ser640Arg)
c.1728C>G (p.Ser576Arg)
1g.209625704G=CA2484299207LAMB3c.1920C= (p.Ser640=)
c.1728C= (p.Ser576=)
1g.209625704G>TCA344589131LAMB3c.1920C>A (p.Ser640Arg)
c.1728C>A (p.Ser576Arg)
 dbSNP gnomAD v3 gnomAD v4
1g.209625705C>ACA344589132LAMB3c.1919G>T (p.Ser640Ile)
c.1727G>T (p.Ser576Ile)
1g.209625705C=CA2484299208LAMB3c.1919G= (p.Ser640=)
c.1727G= (p.Ser576=)
1g.209625705C>GCA344589133LAMB3c.1919G>C (p.Ser640Thr)
c.1727G>C (p.Ser576Thr)
 COSMIC
1g.209625705C>TCA344589134LAMB3c.1919G>A (p.Ser640Asn)
c.1727G>A (p.Ser576Asn)
 dbSNP
1g.209625706T>ACA344589135LAMB3c.1918A>T (p.Ser640Cys)
c.1726A>T (p.Ser576Cys)
1g.209625706T>CCA344589136LAMB3c.1918A>G (p.Ser640Gly)
c.1726A>G (p.Ser576Gly)
 dbSNP
1g.209625706T>GCA344589137LAMB3c.1918A>C (p.Ser640Arg)
c.1726A>C (p.Ser576Arg)
1g.209625706T=CA2484299209LAMB3c.1918A= (p.Ser640=)
c.1726A= (p.Ser576=)
1g.209625707G>ACA1375430LAMB3c.1917C>T (p.Ser639=)
c.1725C>T (p.Ser575=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209625707G>CCA344589139LAMB3c.1917C>G (p.Ser639Arg)
c.1725C>G (p.Ser575Arg)
1g.209625707G=CA2484299210LAMB3c.1917C= (p.Ser639=)
c.1725C= (p.Ser575=)
1g.209625707G>TCA344589138LAMB3c.1917C>A (p.Ser639Arg)
c.1725C>A (p.Ser575Arg)
1g.209625708C>ACA344589140LAMB3c.1916G>T (p.Ser639Ile)
c.1724G>T (p.Ser575Ile)
1g.209625708C>GCA344589141LAMB3c.1916G>C (p.Ser639Thr)
c.1724G>C (p.Ser575Thr)
1g.209625708C>TCA344589142LAMB3c.1916G>A (p.Ser639Asn)
c.1724G>A (p.Ser575Asn)
1g.209625709T>ACA344589143LAMB3c.1915A>T (p.Ser639Cys)
c.1723A>T (p.Ser575Cys)
1g.209625709T>CCA344589144LAMB3c.1915A>G (p.Ser639Gly)
c.1723A>G (p.Ser575Gly)
 gnomAD v4
1g.209625709T>GCA344589145LAMB3c.1915A>C (p.Ser639Arg)
c.1723A>C (p.Ser575Arg)
1g.209625710G>ACA423142579LAMB3c.1914C>T (p.Leu638=)
c.1722C>T (p.Leu574=)
1g.209625710G>CCA423142580LAMB3c.1914C>G (p.Leu638=)
c.1722C>G (p.Leu574=)
1g.209625710G>TCA423142581LAMB3c.1914C>A (p.Leu638=)
c.1722C>A (p.Leu574=)
1g.209625711A>CCA344589146LAMB3c.1913T>G (p.Leu638Arg)
c.1721T>G (p.Leu574Arg)
1g.209625711A>GCA344589147LAMB3c.1913T>C (p.Leu638Pro)
c.1721T>C (p.Leu574Pro)
1g.209625711A>TCA344589148LAMB3c.1913T>A (p.Leu638His)
c.1721T>A (p.Leu574His)
1g.209625712G>ACA344589149LAMB3c.1912C>T (p.Leu638Phe)
c.1720C>T (p.Leu574Phe)
1g.209625712G>CCA344589150LAMB3c.1912C>G (p.Leu638Val)
c.1720C>G (p.Leu574Val)
1g.209625712G>TCA344589151LAMB3c.1912C>A (p.Leu638Ile)
c.1720C>A (p.Leu574Ile)
1g.209625713A>CCA423142582LAMB3c.1911T>G (p.Val637=)
c.1719T>G (p.Val573=)
1g.209625713A>GCA423142583LAMB3c.1911T>C (p.Val637=)
c.1719T>C (p.Val573=)
1g.209625713A>TCA423142584LAMB3c.1911T>A (p.Val637=)
c.1719T>A (p.Val573=)
1g.209625714A=CA2484299211LAMB3c.1910T= (p.Val637=)
c.1718T= (p.Val573=)
1g.209625714A>CCA344589153LAMB3c.1910T>G (p.Val637Gly)
c.1718T>G (p.Val573Gly)
1g.209625714A>GCA1375431LAMB3c.1910T>C (p.Val637Ala)
c.1718T>C (p.Val573Ala)
 dbSNP ExAC
1g.209625714A>TCA344589152LAMB3c.1910T>A (p.Val637Asp)
c.1718T>A (p.Val573Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209625715C>ACA344589154LAMB3c.1909G>T (p.Val637Phe)
c.1717G>T (p.Val573Phe)
1g.209625715C>GCA344589155LAMB3c.1909G>C (p.Val637Leu)
c.1717G>C (p.Val573Leu)
1g.209625715C>TCA344589156LAMB3c.1909G>A (p.Val637Ile)
c.1717G>A (p.Val573Ile)
1g.209625721_209625730delCA2573130650LAMB3c.1900_1909del (p.Ile634PhefsTer?)
c.1708_1717del (p.Ile570PhefsTer?)
 ClinVar dbSNP
1g.209625716T>ACA423142585LAMB3c.1908A>T (p.Ala636=)
c.1716A>T (p.Ala572=)
1g.209625716T>CCA423142586LAMB3c.1908A>G (p.Ala636=)
c.1716A>G (p.Ala572=)
1g.209625716T>GCA423142587LAMB3c.1908A>C (p.Ala636=)
c.1716A>C (p.Ala572=)
1g.209625717G>ACA344589157LAMB3c.1907C>T (p.Ala636Val)
c.1715C>T (p.Ala572Val)
1g.209625717G>CCA344589158LAMB3c.1907C>G (p.Ala636Gly)
c.1715C>G (p.Ala572Gly)
1g.209625717G>TCA344589159LAMB3c.1907C>A (p.Ala636Glu)
c.1715C>A (p.Ala572Glu)
1g.209625718C>ACA344589160LAMB3c.1906G>T (p.Ala636Ser)
c.1714G>T (p.Ala572Ser)
1g.209625718C=CA2484299212LAMB3c.1906G= (p.Ala636=)
c.1714G= (p.Ala572=)
1g.209625718C>GCA344589161LAMB3c.1906G>C (p.Ala636Pro)
c.1714G>C (p.Ala572Pro)
1g.209625718C>TCA344589162LAMB3c.1906G>A (p.Ala636Thr)
c.1714G>A (p.Ala572Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209625719T>ACA423142588LAMB3c.1905A>T (p.Arg635=)
c.1713A>T (p.Arg571=)
1g.209625719T>CCA423142589LAMB3c.1905A>G (p.Arg635=)
c.1713A>G (p.Arg571=)
1g.209625719T>GCA423142590LAMB3c.1905A>C (p.Arg635=)
c.1713A>C (p.Arg571=)
1g.209625720C>ACA344589163LAMB3c.1904G>T (p.Arg635Leu)
c.1712G>T (p.Arg571Leu)
1g.209625720C=CA2484299213LAMB3c.1904G= (p.Arg635=)
c.1712G= (p.Arg571=)
1g.209625720C>GCA344589164LAMB3c.1904G>C (p.Arg635Pro)
c.1712G>C (p.Arg571Pro)
 gnomAD v4
1g.209625720C>TCA1375432LAMB3c.1904G>A (p.Arg635Gln)
c.1712G>A (p.Arg571Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209625721G>ACA257272LAMB3c.1903C>T (p.Arg635Ter)
c.1711C>T (p.Arg571Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209625721G>CCA344589165LAMB3c.1903C>G (p.Arg635Gly)
c.1711C>G (p.Arg571Gly)
1g.209625721G=CA1141188131LAMB3c.1903C= (p.Arg635=)
c.1711C= (p.Arg571=)
1g.209625721G>TCA423142591LAMB3c.1903C>A (p.Arg635=)
c.1711C>A (p.Arg571=)
 ClinVar
1g.209625722G>ACA423142592LAMB3c.1902C>T (p.Ile634=)
c.1710C>T (p.Ile570=)
 dbSNP
1g.209625722G>CCA344589166LAMB3c.1902C>G (p.Ile634Met)
c.1710C>G (p.Ile570Met)
1g.209625722G=CA2484299214LAMB3c.1902C= (p.Ile634=)
c.1710C= (p.Ile570=)
1g.209625722G>TCA423142593LAMB3c.1902C>A (p.Ile634=)
c.1710C>A (p.Ile570=)
1g.209625723A>CCA344589167LAMB3c.1901T>G (p.Ile634Ser)
c.1709T>G (p.Ile570Ser)
1g.209625723A>GCA344589168LAMB3c.1901T>C (p.Ile634Thr)
c.1709T>C (p.Ile570Thr)
 gnomAD v4
1g.209625723A>TCA344589169LAMB3c.1901T>A (p.Ile634Asn)
c.1709T>A (p.Ile570Asn)
1g.209625724T>ACA344589170LAMB3c.1900A>T (p.Ile634Phe)
c.1708A>T (p.Ile570Phe)
1g.209625724T>CCA344589171LAMB3c.1900A>G (p.Ile634Val)
c.1708A>G (p.Ile570Val)
1g.209625724T>GCA344589172LAMB3c.1900A>C (p.Ile634Leu)
c.1708A>C (p.Ile570Leu)
1g.209625725C>ACA344589173LAMB3c.1899G>T (p.Gln633His)
c.1707G>T (p.Gln569His)
1g.209625725C>GCA344589174LAMB3c.1899G>C (p.Gln633His)
c.1707G>C (p.Gln569His)
1g.209625725C>TCA423142594LAMB3c.1899G>A (p.Gln633=)
c.1707G>A (p.Gln569=)
 COSMIC
1g.209625726T>ACA344589175LAMB3c.1898A>T (p.Gln633Leu)
c.1706A>T (p.Gln569Leu)
1g.209625726T>CCA344589176LAMB3c.1898A>G (p.Gln633Arg)
c.1706A>G (p.Gln569Arg)
1g.209625726T>GCA344589177LAMB3c.1898A>C (p.Gln633Pro)
c.1706A>C (p.Gln569Pro)
1g.209625727G>ACA344589178LAMB3c.1897C>T (p.Gln633Ter)
c.1705C>T (p.Gln569Ter)
 ClinVar dbSNP
1g.209625727G>CCA344589179LAMB3c.1897C>G (p.Gln633Glu)
c.1705C>G (p.Gln569Glu)
1g.209625727G>TCA344589180LAMB3c.1897C>A (p.Gln633Lys)
c.1705C>A (p.Gln569Lys)
1g.209625728C>ACA344589181LAMB3c.1896G>T (p.Glu632Asp)
c.1704G>T (p.Glu568Asp)
1g.209625728C=CA2484299215LAMB3c.1896G= (p.Glu632=)
c.1704G= (p.Glu568=)
1g.209625728C>GCA344589182LAMB3c.1896G>C (p.Glu632Asp)
c.1704G>C (p.Glu568Asp)
1g.209625728C>TCA1375433LAMB3c.1896G>A (p.Glu632=)
c.1704G>A (p.Glu568=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.209625729T>ACA344589183LAMB3c.1895A>T (p.Glu632Val)
c.1703A>T (p.Glu568Val)
1g.209625729T>CCA344589184LAMB3c.1895A>G (p.Glu632Gly)
c.1703A>G (p.Glu568Gly)
1g.209625729T>GCA344589185LAMB3c.1895A>C (p.Glu632Ala)
c.1703A>C (p.Glu568Ala)
 dbSNP
1g.209625729T=CA2484299216LAMB3c.1895A= (p.Glu632=)
c.1703A= (p.Glu568=)
1g.209625730C>ACA344589186LAMB3c.1894G>T (p.Glu632Ter)
c.1702G>T (p.Glu568Ter)
1g.209625730C>GCA344589187LAMB3c.1894G>C (p.Glu632Gln)
c.1702G>C (p.Glu568Gln)
1g.209625730C>TCA344589188LAMB3c.1894G>A (p.Glu632Lys)
c.1702G>A (p.Glu568Lys)
1g.209625731A=CA2484299217LAMB3c.1893T= (p.Ile631=)
c.1701T= (p.Ile567=)
1g.209625731A>CCA36756227LAMB3c.1893T>G (p.Ile631Met)
c.1701T>G (p.Ile567Met)
 dbSNP
1g.209625731A>GCA423142595LAMB3c.1893T>C (p.Ile631=)
c.1701T>C (p.Ile567=)
1g.209625731A>TCA423142596LAMB3c.1893T>A (p.Ile631=)
c.1701T>A (p.Ile567=)
1g.209625732A>CCA344589191LAMB3c.1892T>G (p.Ile631Ser)
c.1700T>G (p.Ile567Ser)
1g.209625732A>GCA344589189LAMB3c.1892T>C (p.Ile631Thr)
c.1700T>C (p.Ile567Thr)
1g.209625732A>TCA344589190LAMB3c.1892T>A (p.Ile631Asn)
c.1700T>A (p.Ile567Asn)
1g.209625733T>ACA1375434LAMB3c.1891A>T (p.Ile631Phe)
c.1699A>T (p.Ile567Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209625733T>CCA344589192LAMB3c.1891A>G (p.Ile631Val)
c.1699A>G (p.Ile567Val)
1g.209625733T>GCA344589193LAMB3c.1891A>C (p.Ile631Leu)
c.1699A>C (p.Ile567Leu)
1g.209625733T=CA1145573777LAMB3c.1891A= (p.Ile631=)
c.1699A= (p.Ile567=)
1g.209625734C>ACA344589194LAMB3c.1890G>T (p.Lys630Asn)
c.1698G>T (p.Lys566Asn)
1g.209625734C>GCA344589195LAMB3c.1890G>C (p.Lys630Asn)
c.1698G>C (p.Lys566Asn)
1g.209625734C>TCA423142597LAMB3c.1890G>A (p.Lys630=)
c.1698G>A (p.Lys566=)
1g.209625735T>ACA344589197LAMB3c.1889A>T (p.Lys630Met)
c.1697A>T (p.Lys566Met)
1g.209625735T>CCA1375435LAMB3c.1889A>G (p.Lys630Arg)
c.1697A>G (p.Lys566Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209625735T>GCA344589196LAMB3c.1889A>C (p.Lys630Thr)
c.1697A>C (p.Lys566Thr)
1g.209625735T=CA2484299218LAMB3c.1889A= (p.Lys630=)
c.1697A= (p.Lys566=)
1g.209625736delCA2505006893LAMB3c.1889del (p.Lys630ArgfsTer?)
c.1697del (p.Lys566ArgfsTer?)
1g.209625736T>ACA344589198LAMB3c.1888A>T (p.Lys630Ter)
c.1696A>T (p.Lys566Ter)
1g.209625736T>CCA1375436LAMB3c.1888A>G (p.Lys630Glu)
c.1696A>G (p.Lys566Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209625736T>GCA344589199LAMB3c.1888A>C (p.Lys630Gln)
c.1696A>C (p.Lys566Gln)
 dbSNP
1g.209625736T=CA1148434533LAMB3c.1888A= (p.Lys630=)
c.1696A= (p.Lys566=)
1g.209625737A>CCA344589200LAMB3c.1887T>G (p.Ser629Arg)
c.1695T>G (p.Ser565Arg)
1g.209625737A>GCA423142598LAMB3c.1887T>C (p.Ser629=)
c.1695T>C (p.Ser565=)
1g.209625737A>TCA344589201LAMB3c.1887T>A (p.Ser629Arg)
c.1695T>A (p.Ser565Arg)
1g.209625738C>ACA344589202LAMB3c.1886G>T (p.Ser629Ile)
c.1694G>T (p.Ser565Ile)
1g.209625738C=CA2484299219LAMB3c.1886G= (p.Ser629=)
c.1694G= (p.Ser565=)
1g.209625738C>GCA344589203LAMB3c.1886G>C (p.Ser629Thr)
c.1694G>C (p.Ser565Thr)
 dbSNP gnomAD v3 gnomAD v4
1g.209625738C>TCA344589204LAMB3c.1886G>A (p.Ser629Asn)
c.1694G>A (p.Ser565Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209625739T>ACA344589205LAMB3c.1885A>T (p.Ser629Cys)
c.1693A>T (p.Ser565Cys)
1g.209625739T>CCA344589206LAMB3c.1885A>G (p.Ser629Gly)
c.1693A>G (p.Ser565Gly)
1g.209625739T>GCA344589207LAMB3c.1885A>C (p.Ser629Arg)
c.1693A>C (p.Ser565Arg)
1g.209625740C>ACA1375437LAMB3c.1884G>T (p.Lys628Asn)
c.1692G>T (p.Lys564Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209625740C=CA2484299220LAMB3c.1884G= (p.Lys628=)
c.1692G= (p.Lys564=)
1g.209625740C>GCA344589208LAMB3c.1884G>C (p.Lys628Asn)
c.1692G>C (p.Lys564Asn)
1g.209625740C>TCA423142599LAMB3c.1884G>A (p.Lys628=)
c.1692G>A (p.Lys564=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.209625741T>ACA344589209LAMB3c.1883A>T (p.Lys628Met)
c.1691A>T (p.Lys564Met)
1g.209625741T>CCA344589211LAMB3c.1883A>G (p.Lys628Arg)
c.1691A>G (p.Lys564Arg)
1g.209625741T>GCA344589210LAMB3c.1883A>C (p.Lys628Thr)
c.1691A>C (p.Lys564Thr)
1g.209625742T>ACA344589212LAMB3c.1882A>T (p.Lys628Ter)
c.1690A>T (p.Lys564Ter)
1g.209625742T>CCA344589213LAMB3c.1882A>G (p.Lys628Glu)
c.1690A>G (p.Lys564Glu)
1g.209625742T>GCA344589214LAMB3c.1882A>C (p.Lys628Gln)
c.1690A>C (p.Lys564Gln)
1g.209625743T>ACA423142600LAMB3c.1881A>T (p.Ala627=)
c.1689A>T (p.Ala563=)
1g.209625743T>CCA423142601LAMB3c.1881A>G (p.Ala627=)
c.1689A>G (p.Ala563=)
1g.209625743T>GCA423142602LAMB3c.1881A>C (p.Ala627=)
c.1689A>C (p.Ala563=)
1g.209625744G>ACA344589215LAMB3c.1880C>T (p.Ala627Val)
c.1688C>T (p.Ala563Val)
1g.209625744G>CCA344589216LAMB3c.1880C>G (p.Ala627Gly)
c.1688C>G (p.Ala563Gly)
1g.209625744G>TCA344589217LAMB3c.1880C>A (p.Ala627Glu)
c.1688C>A (p.Ala563Glu)
 gnomAD v4
1g.209625745C>ACA344589220LAMB3c.1879G>T (p.Ala627Ser)
c.1687G>T (p.Ala563Ser)
1g.209625745C>GCA344589218LAMB3c.1879G>C (p.Ala627Pro)
c.1687G>C (p.Ala563Pro)
1g.209625745C>TCA344589219LAMB3c.1879G>A (p.Ala627Thr)
c.1687G>A (p.Ala563Thr)
1g.209625746A=CA1144213242LAMB3c.1878T= (p.Asp626=)
c.1686T= (p.Asp562=)
1g.209625746A>CCA1375438LAMB3c.1878T>G (p.Asp626Glu)
c.1686T>G (p.Asp562Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209625746A>GCA423142603LAMB3c.1878T>C (p.Asp626=)
c.1686T>C (p.Asp562=)
 ClinVar dbSNP gnomAD v4
1g.209625746A>TCA344589221LAMB3c.1878T>A (p.Asp626Glu)
c.1686T>A (p.Asp562Glu)
1g.209625747T>ACA344589222LAMB3c.1877A>T (p.Asp626Val)
c.1685A>T (p.Asp562Val)
1g.209625747T>CCA344589223LAMB3c.1877A>G (p.Asp626Gly)
c.1685A>G (p.Asp562Gly)
 gnomAD v4
1g.209625747T>GCA344589224LAMB3c.1877A>C (p.Asp626Ala)
c.1685A>C (p.Asp562Ala)
1g.209625748C>ACA344589225LAMB3c.1876G>T (p.Asp626Tyr)
c.1684G>T (p.Asp562Tyr)
1g.209625748C=CA1148333979LAMB3c.1876G= (p.Asp626=)
c.1684G= (p.Asp562=)
1g.209625748C>GCA344589226LAMB3c.1876G>C (p.Asp626His)
c.1684G>C (p.Asp562His)
1g.209625748C>TCA1375439LAMB3c.1876G>A (p.Asp626Asn)
c.1684G>A (p.Asp562Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.209625748delinsAATTTCA2580061984LAMB3c.1876delinsAAATT (p.Asp626LysfsTer6)
c.1684delinsAAATT (p.Asp562LysfsTer6)
 ClinVar
1g.209625749T>ACA423142606LAMB3c.1875A>T (p.Leu625=)
c.1683A>T (p.Leu561=)
1g.209625749T>CCA423142605LAMB3c.1875A>G (p.Leu625=)
c.1683A>G (p.Leu561=)
 gnomAD v4
1g.209625749T>GCA423142604LAMB3c.1875A>C (p.Leu625=)
c.1683A>C (p.Leu561=)
1g.209625750A>CCA344589227LAMB3c.1874T>G (p.Leu625Arg)
c.1682T>G (p.Leu561Arg)
1g.209625750A>GCA344589228LAMB3c.1874T>C (p.Leu625Pro)
c.1682T>C (p.Leu561Pro)
1g.209625750A>TCA344589229LAMB3c.1874T>A (p.Leu625Gln)
c.1682T>A (p.Leu561Gln)
1g.209625751G>ACA1375440LAMB3c.1873C>T (p.Leu625=)
c.1681C>T (p.Leu561=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209625751G>CCA344589230LAMB3c.1873C>G (p.Leu625Val)
c.1681C>G (p.Leu561Val)
1g.209625751G=CA1146973927LAMB3c.1873C= (p.Leu625=)
c.1681C= (p.Leu561=)
1g.209625751G>TCA344589231LAMB3c.1873C>A (p.Leu625Ile)
c.1681C>A (p.Leu561Ile)
1g.209625752G>ACA423142607LAMB3c.1872C>T (p.Ile624=)
c.1680C>T (p.Ile560=)
1g.209625752G>CCA344589232LAMB3c.1872C>G (p.Ile624Met)
c.1680C>G (p.Ile560Met)
1g.209625752G>TCA423142608LAMB3c.1872C>A (p.Ile624=)
c.1680C>A (p.Ile560=)
1g.209625753A>CCA344589233LAMB3c.1871T>G (p.Ile624Ser)
c.1679T>G (p.Ile560Ser)
1g.209625753A>GCA344589234LAMB3c.1871T>C (p.Ile624Thr)
c.1679T>C (p.Ile560Thr)
1g.209625753A>TCA344589235LAMB3c.1871T>A (p.Ile624Asn)
c.1679T>A (p.Ile560Asn)
1g.209625754T>ACA344589236LAMB3c.1870A>T (p.Ile624Phe)
c.1678A>T (p.Ile560Phe)
1g.209625754T>CCA344589238LAMB3c.1870A>G (p.Ile624Val)
c.1678A>G (p.Ile560Val)
1g.209625754T>GCA344589237LAMB3c.1870A>C (p.Ile624Leu)
c.1678A>C (p.Ile560Leu)
1g.209625755C>ACA423142609LAMB3c.1869G>T (p.Arg623=)
c.1677G>T (p.Arg559=)
1g.209625755C=CA2484299221LAMB3c.1869G= (p.Arg623=)
c.1677G= (p.Arg559=)
1g.209625755C>GCA423142610LAMB3c.1869G>C (p.Arg623=)
c.1677G>C (p.Arg559=)
1g.209625755C>TCA423142611LAMB3c.1869G>A (p.Arg623=)
c.1677G>A (p.Arg559=)
 dbSNP
1g.209625756delCA2747564042LAMB3c.1869del (p.Ile624SerfsTer2)
c.1677del (p.Ile560SerfsTer2)
1g.209625756C>ACA344589239LAMB3c.1868G>T (p.Arg623Leu)
c.1676G>T (p.Arg559Leu)
1g.209625756C=CA1142078575LAMB3c.1868G= (p.Arg623=)
c.1676G= (p.Arg559=)
1g.209625756C>GCA344589240LAMB3c.1868G>C (p.Arg623Pro)
c.1676G>C (p.Arg559Pro)
1g.209625756C>TCA1375441LAMB3c.1868G>A (p.Arg623Gln)
c.1676G>A (p.Arg559Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209625757G>ACA1375442LAMB3c.1867C>T (p.Arg623Trp)
c.1675C>T (p.Arg559Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209625757G>CCA344589241LAMB3c.1867C>G (p.Arg623Gly)
c.1675C>G (p.Arg559Gly)
1g.209625757G=CA2484299222LAMB3c.1867C= (p.Arg623=)
c.1675C= (p.Arg559=)
1g.209625757G>TCA1375443LAMB3c.1867C>A (p.Arg623=)
c.1675C>A (p.Arg559=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209625758G>ACA423142612LAMB3c.1866C>T (p.Ser622=)
c.1674C>T (p.Ser558=)
 COSMIC
1g.209625758G>CCA423142613LAMB3c.1866C>G (p.Ser622=)
c.1674C>G (p.Ser558=)
1g.209625758G>TCA423142614LAMB3c.1866C>A (p.Ser622=)
c.1674C>A (p.Ser558=)
1g.209625758_209625759insAAGGTGTAGTAGCCTCGCTGGCACTGGTCACAGCCA2650321823LAMB3c.1865_1866insGCTGTGACCAGTGCCAGCGAGGCTACTACACCTT (p.Arg623LeufsTer2)
c.1673_1674insGCTGTGACCAGTGCCAGCGAGGCTACTACACCTT (p.Arg559LeufsTer2)
 gnomAD v4
1g.209625759G>ACA344589242LAMB3c.1865C>T (p.Ser622Phe)
c.1673C>T (p.Ser558Phe)
 dbSNP gnomAD v2
1g.209625759G>CCA344589243LAMB3c.1865C>G (p.Ser622Cys)
c.1673C>G (p.Ser558Cys)
1g.209625759G=CA2484299223LAMB3c.1865C= (p.Ser622=)
c.1673C= (p.Ser558=)
1g.209625759G>TCA344589244LAMB3c.1865C>A (p.Ser622Tyr)
c.1673C>A (p.Ser558Tyr)
1g.209625760A=CA2484299224LAMB3c.1864T= (p.Ser622=)
c.1672T= (p.Ser558=)
1g.209625760A>CCA344589245LAMB3c.1864T>G (p.Ser622Ala)
c.1672T>G (p.Ser558Ala)
1g.209625760A>GCA1375444LAMB3c.1864T>C (p.Ser622Pro)
c.1672T>C (p.Ser558Pro)
 dbSNP ExAC gnomAD v4
1g.209625760A>TCA344589246LAMB3c.1864T>A (p.Ser622Thr)
c.1672T>A (p.Ser558Thr)
1g.209625761G>ACA423142615LAMB3c.1863C>T (p.Ala621=)
c.1671C>T (p.Ala557=)
1g.209625761G>CCA423142616LAMB3c.1863C>G (p.Ala621=)
c.1671C>G (p.Ala557=)
1g.209625761G>TCA423142617LAMB3c.1863C>A (p.Ala621=)
c.1671C>A (p.Ala557=)
1g.209625762G>ACA1375445LAMB3c.1862C>T (p.Ala621Val)
c.1670C>T (p.Ala557Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209625762G>CCA344589247LAMB3c.1862C>G (p.Ala621Gly)
c.1670C>G (p.Ala557Gly)
1g.209625762G=CA1141883181LAMB3c.1862C= (p.Ala621=)
c.1670C= (p.Ala557=)
1g.209625762G>TCA344589248LAMB3c.1862C>A (p.Ala621Asp)
c.1670C>A (p.Ala557Asp)
1g.209625763C>ACA344589249LAMB3c.1861G>T (p.Ala621Ser)
c.1669G>T (p.Ala557Ser)
1g.209625763C=CA2484299225LAMB3c.1861G= (p.Ala621=)
c.1669G= (p.Ala557=)
1g.209625763C>GCA1375446LAMB3c.1861G>C (p.Ala621Pro)
c.1669G>C (p.Ala557Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209625763C>TCA344589250LAMB3c.1861G>A (p.Ala621Thr)
c.1669G>A (p.Ala557Thr)
 COSMIC
1g.209625764C>ACA423142618LAMB3c.1860G>T (p.Leu620=)
c.1668G>T (p.Leu556=)
 dbSNP
1g.209625764C=CA1149153733LAMB3c.1860G= (p.Leu620=)
c.1668G= (p.Leu556=)
1g.209625764C>GCA423142619LAMB3c.1860G>C (p.Leu620=)
c.1668G>C (p.Leu556=)
1g.209625764C>TCA1375447LAMB3c.1860G>A (p.Leu620=)
c.1668G>A (p.Leu556=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.209625764_209625765insTCA2650321824LAMB3c.1859_1860insA (p.Ala621GlyfsTer10)
c.1667_1668insA (p.Ala557GlyfsTer10)
 gnomAD v4
1g.209625765A=CA2484299226LAMB3c.1859T= (p.Leu620=)
c.1667T= (p.Leu556=)
1g.209625765A>CCA344589251LAMB3c.1859T>G (p.Leu620Arg)
c.1667T>G (p.Leu556Arg)
1g.209625765A>GCA344589252LAMB3c.1859T>C (p.Leu620Pro)
c.1667T>C (p.Leu556Pro)
 dbSNP gnomAD v2 gnomAD v4
1g.209625765A>TCA344589253LAMB3c.1859T>A (p.Leu620Gln)
c.1667T>A (p.Leu556Gln)
1g.209625766G>ACA423142620LAMB3c.1858C>T (p.Leu620=)
c.1666C>T (p.Leu556=)
 gnomAD v4
1g.209625766G>CCA344589254LAMB3c.1858C>G (p.Leu620Val)
c.1666C>G (p.Leu556Val)
1g.209625766G>TCA344589255LAMB3c.1858C>A (p.Leu620Met)
c.1666C>A (p.Leu556Met)
 COSMIC
1g.209625766_209625767insATCA2650321825LAMB3c.1857_1858insAT (p.Leu620IlefsTer7)
c.1665_1666insAT (p.Leu556IlefsTer7)
 gnomAD v4
1g.209625767G>ACA423142621LAMB3c.1857C>T (p.Gly619=)
c.1665C>T (p.Gly555=)
 gnomAD v4
1g.209625767G>CCA423142622LAMB3c.1857C>G (p.Gly619=)
c.1665C>G (p.Gly555=)
 gnomAD v4
1g.209625767G>TCA423142623LAMB3c.1857C>A (p.Gly619=)
c.1665C>A (p.Gly555=)
1g.209625768C>ACA344589256LAMB3c.1856G>T (p.Gly619Val)
c.1664G>T (p.Gly555Val)
1g.209625768C=CA2484299227LAMB3c.1856G= (p.Gly619=)
c.1664G= (p.Gly555=)
1g.209625768C>GCA344589257LAMB3c.1856G>C (p.Gly619Ala)
c.1664G>C (p.Gly555Ala)
1g.209625768C>TCA344589258LAMB3c.1856G>A (p.Gly619Asp)
c.1664G>A (p.Gly555Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209625769delCA2650321826LAMB3c.1856del (p.Gly619AlafsTer7)
c.1664del (p.Gly555AlafsTer7)
 gnomAD v4
1g.209625769C>ACA344589260LAMB3c.1855G>T (p.Gly619Cys)
c.1663G>T (p.Gly555Cys)
1g.209625769C>GCA344589261LAMB3c.1855G>C (p.Gly619Arg)
c.1663G>C (p.Gly555Arg)
1g.209625769C>TCA344589259LAMB3c.1855G>A (p.Gly619Ser)
c.1663G>A (p.Gly555Ser)
1g.209625770A=CA2484299228LAMB3c.1854T= (p.Arg618=)
c.1662T= (p.Arg554=)
1g.209625770A>CCA423142624LAMB3c.1854T>G (p.Arg618=)
c.1662T>G (p.Arg554=)
1g.209625770A>GCA423142626LAMB3c.1854T>C (p.Arg618=)
c.1662T>C (p.Arg554=)
 dbSNP gnomAD v2 gnomAD v4
1g.209625770A>TCA423142625LAMB3c.1854T>A (p.Arg618=)
c.1662T>A (p.Arg554=)
1g.209625771C>ACA344589262LAMB3c.1853G>T (p.Arg618Leu)
c.1661G>T (p.Arg554Leu)
 gnomAD v4
1g.209625771C=CA2484299229LAMB3c.1853G= (p.Arg618=)
c.1661G= (p.Arg554=)
1g.209625771C>GCA344589263LAMB3c.1853G>C (p.Arg618Pro)
c.1661G>C (p.Arg554Pro)
1g.209625771C>TCA1375448LAMB3c.1853G>A (p.Arg618His)
c.1661G>A (p.Arg554His)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.209625772G>ACA1375449LAMB3c.1852C>T (p.Arg618Cys)
c.1660C>T (p.Arg554Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209625772G>CCA344589264LAMB3c.1852C>G (p.Arg618Gly)
c.1660C>G (p.Arg554Gly)
 dbSNP gnomAD v4
1g.209625772G=CA1143396540LAMB3c.1852C= (p.Arg618=)
c.1660C= (p.Arg554=)
1g.209625772G>TCA344589265LAMB3c.1852C>A (p.Arg618Ser)
c.1660C>A (p.Arg554Ser)
1g.209625773G>ACA36756258LAMB3c.1851C>T (p.Asp617=)
c.1659C>T (p.Asp553=)
 ClinVar dbSNP gnomAD v4
1g.209625773G>CCA344589266LAMB3c.1851C>G (p.Asp617Glu)
c.1659C>G (p.Asp553Glu)
 gnomAD v4
1g.209625773G=CA2484299230LAMB3c.1851C= (p.Asp617=)
c.1659C= (p.Asp553=)
1g.209625773G>TCA344589267LAMB3c.1851C>A (p.Asp617Glu)
c.1659C>A (p.Asp553Glu)
1g.209625774T>ACA344589268LAMB3c.1850A>T (p.Asp617Val)
c.1658A>T (p.Asp553Val)
1g.209625774T>CCA344589269LAMB3c.1850A>G (p.Asp617Gly)
c.1658A>G (p.Asp553Gly)
1g.209625774T>GCA344589270LAMB3c.1850A>C (p.Asp617Ala)
c.1658A>C (p.Asp553Ala)
1g.209625775C>ACA344589271LAMB3c.1849G>T (p.Asp617Tyr)
c.1657G>T (p.Asp553Tyr)
1g.209625775C>GCA344589272LAMB3c.1849G>C (p.Asp617His)
c.1657G>C (p.Asp553His)
1g.209625775C>TCA344589273LAMB3c.1849G>A (p.Asp617Asn)
c.1657G>A (p.Asp553Asn)
 COSMIC
1g.209625776C>ACA344589274LAMB3c.1848G>T (p.Glu616Asp)
c.1656G>T (p.Glu552Asp)
1g.209625776C>GCA344589275LAMB3c.1848G>C (p.Glu616Asp)
c.1656G>C (p.Glu552Asp)
1g.209625776C>TCA423142627LAMB3c.1848G>A (p.Glu616=)
c.1656G>A (p.Glu552=)
 ClinVar dbSNP
1g.209625777T>ACA344589276LAMB3c.1847A>T (p.Glu616Val)
c.1655A>T (p.Glu552Val)
1g.209625777T>CCA344589277LAMB3c.1847A>G (p.Glu616Gly)
c.1655A>G (p.Glu552Gly)
1g.209625777T>GCA344589278LAMB3c.1847A>C (p.Glu616Ala)
c.1655A>C (p.Glu552Ala)
1g.209625778C>ACA344589279LAMB3c.1846G>T (p.Glu616Ter)
c.1654G>T (p.Glu552Ter)
 ClinVar
1g.209625778C>GCA344589280LAMB3c.1846G>C (p.Glu616Gln)
c.1654G>C (p.Glu552Gln)
1g.209625778C>TCA344589281LAMB3c.1846G>A (p.Glu616Lys)
c.1654G>A (p.Glu552Lys)
1g.209625779C>ACA423142628LAMB3c.1845G>T (p.Leu615=)
c.1653G>T (p.Leu551=)
1g.209625779C=CA2484299231LAMB3c.1845G= (p.Leu615=)
c.1653G= (p.Leu551=)
1g.209625779C>GCA423142629LAMB3c.1845G>C (p.Leu615=)
c.1653G>C (p.Leu551=)
1g.209625779C>TCA423142630LAMB3c.1845G>A (p.Leu615=)
c.1653G>A (p.Leu551=)
 ClinVar dbSNP
1g.209625780A>CCA344589282LAMB3c.1844T>G (p.Leu615Arg)
c.1652T>G (p.Leu551Arg)
1g.209625780A>GCA344589283LAMB3c.1844T>C (p.Leu615Pro)
c.1652T>C (p.Leu551Pro)
1g.209625780A>TCA344589284LAMB3c.1844T>A (p.Leu615Gln)
c.1652T>A (p.Leu551Gln)
1g.209625781G>ACA423142631LAMB3c.1843C>T (p.Leu615=)
c.1651C>T (p.Leu551=)
 gnomAD v4
1g.209625781G>CCA344589285LAMB3c.1843C>G (p.Leu615Val)
c.1651C>G (p.Leu551Val)
1g.209625781G>TCA344589286LAMB3c.1843C>A (p.Leu615Met)
c.1651C>A (p.Leu551Met)
1g.209625782C>ACA423142632LAMB3c.1842G>T (p.Gly614=)
c.1650G>T (p.Gly550=)
1g.209625782C=CA2484299232LAMB3c.1842G= (p.Gly614=)
c.1650G= (p.Gly550=)
1g.209625782C>GCA423142633LAMB3c.1842G>C (p.Gly614=)
c.1650G>C (p.Gly550=)
 COSMIC
1g.209625782C>TCA1375450LAMB3c.1842G>A (p.Gly614=)
c.1650G>A (p.Gly550=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.209625783C>ACA344589289LAMB3c.1841G>T (p.Gly614Val)
c.1649G>T (p.Gly550Val)
1g.209625783C>GCA344589288LAMB3c.1841G>C (p.Gly614Ala)
c.1649G>C (p.Gly550Ala)
1g.209625783C>TCA344589287LAMB3c.1841G>A (p.Gly614Glu)
c.1649G>A (p.Gly550Glu)
1g.209625784C>ACA344589290LAMB3c.1840G>T (p.Gly614Trp)
c.1648G>T (p.Gly550Trp)
1g.209625784C>GCA344589292LAMB3c.1840G>C (p.Gly614Arg)
c.1648G>C (p.Gly550Arg)
1g.209625784C>TCA344589291LAMB3c.1840G>A (p.Gly614Arg)
c.1648G>A (p.Gly550Arg)
1g.209625785A=CA2484299233LAMB3c.1839T= (p.Pro613=)
c.1647T= (p.Pro549=)
1g.209625785A>CCA423142634LAMB3c.1839T>G (p.Pro613=)
c.1647T>G (p.Pro549=)
1g.209625785A>GCA423142635LAMB3c.1839T>C (p.Pro613=)
c.1647T>C (p.Pro549=)
 dbSNP gnomAD v3 gnomAD v4
1g.209625785A>TCA423142636LAMB3c.1839T>A (p.Pro613=)
c.1647T>A (p.Pro549=)
1g.209625786G>ACA344589293LAMB3c.1838C>T (p.Pro613Leu)
c.1646C>T (p.Pro549Leu)
1g.209625786G>CCA344589295LAMB3c.1838C>G (p.Pro613Arg)
c.1646C>G (p.Pro549Arg)
1g.209625786G>TCA344589294LAMB3c.1838C>A (p.Pro613His)
c.1646C>A (p.Pro549His)
1g.209625787G>ACA1375451LAMB3c.1837C>T (p.Pro613Ser)
c.1645C>T (p.Pro549Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209625787G>CCA36756269LAMB3c.1837C>G (p.Pro613Ala)
c.1645C>G (p.Pro549Ala)
 dbSNP
1g.209625787G=CA1142179022LAMB3c.1837C= (p.Pro613=)
c.1645C= (p.Pro549=)
1g.209625787G>TCA344589296LAMB3c.1837C>A (p.Pro613Thr)
c.1645C>A (p.Pro549Thr)
1g.209625788C>ACA423142637LAMB3c.1836G>T (p.Gly612=)
c.1644G>T (p.Gly548=)
1g.209625788C>GCA423142638LAMB3c.1836G>C (p.Gly612=)
c.1644G>C (p.Gly548=)
1g.209625788C>TCA423142639LAMB3c.1836G>A (p.Gly612=)
c.1644G>A (p.Gly548=)
1g.209625789C>ACA344589297LAMB3c.1835G>T (p.Gly612Val)
c.1643G>T (p.Gly548Val)
1g.209625789C>GCA344589298LAMB3c.1835G>C (p.Gly612Ala)
c.1643G>C (p.Gly548Ala)
1g.209625789C>TCA344589299LAMB3c.1835G>A (p.Gly612Glu)
c.1643G>A (p.Gly548Glu)
 gnomAD v4
1g.209625790C>ACA344589300LAMB3c.1834G>T (p.Gly612Trp)
c.1642G>T (p.Gly548Trp)
1g.209625790C>GCA344589301LAMB3c.1834G>C (p.Gly612Arg)
c.1642G>C (p.Gly548Arg)
1g.209625790C>TCA344589302LAMB3c.1834G>A (p.Gly612Arg)
c.1642G>A (p.Gly548Arg)
1g.209625791T>ACA423142640LAMB3c.1833A>T (p.Ser611=)
c.1641A>T (p.Ser547=)
1g.209625791T>CCA423142641LAMB3c.1833A>G (p.Ser611=)
c.1641A>G (p.Ser547=)
 ClinVar dbSNP
1g.209625791T>GCA423142642LAMB3c.1833A>C (p.Ser611=)
c.1641A>C (p.Ser547=)
1g.209625791T=CA2484299234LAMB3c.1833A= (p.Ser611=)
c.1641A= (p.Ser547=)
1g.209625792G>ACA344589303LAMB3c.1832C>T (p.Ser611Leu)
c.1640C>T (p.Ser547Leu)
 COSMIC
1g.209625792G>CCA344589304LAMB3c.1832C>G (p.Ser611Ter)
c.1640C>G (p.Ser547Ter)
 gnomAD v4
1g.209625792G>TCA344589305LAMB3c.1832C>A (p.Ser611Ter)
c.1640C>A (p.Ser547Ter)
1g.209625793A>CCA344589308LAMB3c.1831T>G (p.Ser611Ala)
c.1639T>G (p.Ser547Ala)
1g.209625793A>GCA344589306LAMB3c.1831T>C (p.Ser611Pro)
c.1639T>C (p.Ser547Pro)
1g.209625793A>TCA344589307LAMB3c.1831T>A (p.Ser611Thr)
c.1639T>A (p.Ser547Thr)
1g.209625793_209625801delCA2747564043LAMB3c.1823_1831del (p.Ser608_Ser611delinsThr)
c.1631_1639del (p.Ser544_Ser547delinsThr)
1g.209625794C>ACA344589309LAMB3c.1830G>T (p.Trp610Cys)
c.1638G>T (p.Trp546Cys)
 gnomAD v4
1g.209625794C=CA1141581352LAMB3c.1830G= (p.Trp610=)
c.1638G= (p.Trp546=)
1g.209625794C>GCA344589310LAMB3c.1830G>C (p.Trp610Cys)
c.1638G>C (p.Trp546Cys)
1g.209625794C>TCA257278LAMB3c.1830G>A (p.Trp610Ter)
c.1638G>A (p.Trp546Ter)
 ClinVar dbSNP gnomAD v4
1g.209625795C>ACA344589311LAMB3c.1829G>T (p.Trp610Leu)
c.1637G>T (p.Trp546Leu)
1g.209625795C=CA1143777576LAMB3c.1829G= (p.Trp610=)
c.1637G= (p.Trp546=)
1g.209625795C>GCA1375452LAMB3c.1829G>C (p.Trp610Ser)
c.1637G>C (p.Trp546Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209625795C>TCA344589312LAMB3c.1829G>A (p.Trp610Ter)
c.1637G>A (p.Trp546Ter)
 ClinVar
1g.209625796A>CCA344589313LAMB3c.1828T>G (p.Trp610Gly)
c.1636T>G (p.Trp546Gly)
1g.209625796A>GCA344589314LAMB3c.1828T>C (p.Trp610Arg)
c.1636T>C (p.Trp546Arg)
1g.209625796A>TCA344589315LAMB3c.1828T>A (p.Trp610Arg)
c.1636T>A (p.Trp546Arg)
1g.209625796_209625810delinsACAGGCTGGCGGTGGCA2484299235LAMB3c.1814_1828delinsCCACCGCCAGCCTGT (p.Ala605=)
c.1622_1636delinsCCACCGCCAGCCTGT (p.Ala541=)
1g.209625797C>ACA423142645LAMB3c.1827G>T (p.Leu609=)
c.1635G>T (p.Leu545=)
1g.209625797C=CA2484299236LAMB3c.1827G= (p.Leu609=)
c.1635G= (p.Leu545=)
1g.209625797C>GCA423142644LAMB3c.1827G>C (p.Leu609=)
c.1635G>C (p.Leu545=)
1g.209625797C>TCA423142643LAMB3c.1827G>A (p.Leu609=)
c.1635G>A (p.Leu545=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.209625799_209625812delCA1011767307LAMB3c.1814_1827del (p.Ala605ValfsTer21)
c.1622_1635del (p.Ala541ValfsTer21)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.209625798A=CA2484299237LAMB3c.1826T= (p.Leu609=)
c.1634T= (p.Leu545=)
1g.209625798A>CCA344589316LAMB3c.1826T>G (p.Leu609Arg)
c.1634T>G (p.Leu545Arg)
1g.209625798A>GCA344589317LAMB3c.1826T>C (p.Leu609Pro)
c.1634T>C (p.Leu545Pro)
1g.209625798A>TCA36756296LAMB3c.1826T>A (p.Leu609Gln)
c.1634T>A (p.Leu545Gln)
 ClinVar dbSNP COSMIC
1g.209625799G>ACA423142646LAMB3c.1825C>T (p.Leu609=)
c.1633C>T (p.Leu545=)
1g.209625799G>CCA344589318LAMB3c.1825C>G (p.Leu609Val)
c.1633C>G (p.Leu545Val)
1g.209625799G>TCA344589319LAMB3c.1825C>A (p.Leu609Met)
c.1633C>A (p.Leu545Met)
1g.209625800G>ACA423142647LAMB3c.1824C>T (p.Ser608=)
c.1632C>T (p.Ser544=)
1g.209625800G>CCA344589320LAMB3c.1824C>G (p.Ser608Arg)
c.1632C>G (p.Ser544Arg)
 dbSNP
1g.209625800G=CA2484299238LAMB3c.1824C= (p.Ser608=)
c.1632C= (p.Ser544=)
1g.209625800G>TCA344589321LAMB3c.1824C>A (p.Ser608Arg)
c.1632C>A (p.Ser544Arg)
1g.209625801C>ACA344589322LAMB3c.1823G>T (p.Ser608Ile)
c.1631G>T (p.Ser544Ile)
1g.209625801C>GCA344589323LAMB3c.1823G>C (p.Ser608Thr)
c.1631G>C (p.Ser544Thr)
1g.209625801C>TCA344589324LAMB3c.1823G>A (p.Ser608Asn)
c.1631G>A (p.Ser544Asn)
1g.209625801dupCA16040694LAMB3c.1823dup (p.Ser608ArgfsTer23)
c.1631dup (p.Ser544ArgfsTer23)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209625802T>ACA344589325LAMB3c.1822A>T (p.Ser608Cys)
c.1630A>T (p.Ser544Cys)
1g.209625802T>CCA344589326LAMB3c.1822A>G (p.Ser608Gly)
c.1630A>G (p.Ser544Gly)
1g.209625802T>GCA344589327LAMB3c.1822A>C (p.Ser608Arg)
c.1630A>C (p.Ser544Arg)

Number of alleles fetched