Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.209625904G>ACA344589658LAMB3c.1720C>T (p.Arg574Cys)
c.1528C>T (p.Arg510Cys)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
1g.209625904G>CCA344589659LAMB3c.1720C>G (p.Arg574Gly)
c.1528C>G (p.Arg510Gly)
1g.209625904G=CA2484299274LAMB3c.1720C= (p.Arg574=)
c.1528C= (p.Arg510=)
1g.209625904G>TCA344589660LAMB3c.1720C>A (p.Arg574Ser)
c.1528C>A (p.Arg510Ser)
1g.209625905A>CCA344589661LAMB3c.1719T>G (p.Asn573Lys)
c.1527T>G (p.Asn509Lys)
1g.209625905A>GCA423142713LAMB3c.1719T>C (p.Asn573=)
c.1527T>C (p.Asn509=)
 dbSNP
1g.209625905A>TCA344589663LAMB3c.1719T>A (p.Asn573Lys)
c.1527T>A (p.Asn509Lys)
1g.209625906T>ACA344589665LAMB3c.1718A>T (p.Asn573Ile)
c.1526A>T (p.Asn509Ile)
1g.209625906T>CCA1375483LAMB3c.1718A>G (p.Asn573Ser)
c.1526A>G (p.Asn509Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209625906T>GCA344589668LAMB3c.1718A>C (p.Asn573Thr)
c.1526A>C (p.Asn509Thr)
1g.209625906T=CA1143942780LAMB3c.1718A= (p.Asn573=)
c.1526A= (p.Asn509=)
1g.209625907T>ACA344589674LAMB3c.1717A>T (p.Asn573Tyr)
c.1525A>T (p.Asn509Tyr)
1g.209625907T>CCA344589672LAMB3c.1717A>G (p.Asn573Asp)
c.1525A>G (p.Asn509Asp)
1g.209625907T>GCA344589671LAMB3c.1717A>C (p.Asn573His)
c.1525A>C (p.Asn509His)
1g.209625908A=CA1139918980LAMB3c.1716T= (p.Cys572=)
c.1524T= (p.Cys508=)
1g.209625908A>CCA344589676LAMB3c.1716T>G (p.Cys572Trp)
c.1524T>G (p.Cys508Trp)
1g.209625908A>GCA1375484LAMB3c.1716T>C (p.Cys572=)
c.1524T>C (p.Cys508=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209625908A>TCA344589678LAMB3c.1716T>A (p.Cys572Ter)
c.1524T>A (p.Cys508Ter)
 dbSNP
1g.209625909C>ACA344589680LAMB3c.1715G>T (p.Cys572Phe)
c.1523G>T (p.Cys508Phe)
1g.209625909C>GCA344589682LAMB3c.1715G>C (p.Cys572Ser)
c.1523G>C (p.Cys508Ser)
1g.209625909C>TCA344589683LAMB3c.1715G>A (p.Cys572Tyr)
c.1523G>A (p.Cys508Tyr)
1g.209625910A>CCA344589693LAMB3c.1714T>G (p.Cys572Gly)
c.1522T>G (p.Cys508Gly)
1g.209625910A>GCA344589688LAMB3c.1714T>C (p.Cys572Arg)
c.1522T>C (p.Cys508Arg)
1g.209625910A>TCA344589691LAMB3c.1714T>A (p.Cys572Ser)
c.1522T>A (p.Cys508Ser)
1g.209625911G>ACA423142714LAMB3c.1713C>T (p.Tyr571=)
c.1521C>T (p.Tyr507=)
1g.209625911G>CCA344589696LAMB3c.1713C>G (p.Tyr571Ter)
c.1521C>G (p.Tyr507Ter)
1g.209625911G>TCA344589698LAMB3c.1713C>A (p.Tyr571Ter)
c.1521C>A (p.Tyr507Ter)
1g.209625912T>ACA344589700LAMB3c.1712A>T (p.Tyr571Phe)
c.1520A>T (p.Tyr507Phe)
1g.209625912T>CCA344589702LAMB3c.1712A>G (p.Tyr571Cys)
c.1520A>G (p.Tyr507Cys)
1g.209625912T>GCA344589704LAMB3c.1712A>C (p.Tyr571Ser)
c.1520A>C (p.Tyr507Ser)
1g.209625913A>CCA344589707LAMB3c.1711T>G (p.Tyr571Asp)
c.1519T>G (p.Tyr507Asp)
 gnomAD v4
1g.209625913A>GCA344589710LAMB3c.1711T>C (p.Tyr571His)
c.1519T>C (p.Tyr507His)
1g.209625913A>TCA344589709LAMB3c.1711T>A (p.Tyr571Asn)
c.1519T>A (p.Tyr507Asn)
1g.209625914G>ACA423142715LAMB3c.1710C>T (p.Gly570=)
c.1518C>T (p.Gly506=)
 dbSNP
1g.209625914G>CCA423142716LAMB3c.1710C>G (p.Gly570=)
c.1518C>G (p.Gly506=)
1g.209625914G=CA2484299275LAMB3c.1710C= (p.Gly570=)
c.1518C= (p.Gly506=)
1g.209625914G>TCA423142717LAMB3c.1710C>A (p.Gly570=)
c.1518C>A (p.Gly506=)
1g.209625915C>ACA1375485LAMB3c.1709G>T (p.Gly570Val)
c.1517G>T (p.Gly506Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209625915C=CA1143390653LAMB3c.1709G= (p.Gly570=)
c.1517G= (p.Gly506=)
1g.209625915C>GCA344589714LAMB3c.1709G>C (p.Gly570Ala)
c.1517G>C (p.Gly506Ala)
 gnomAD v4
1g.209625915C>TCA344589715LAMB3c.1709G>A (p.Gly570Asp)
c.1517G>A (p.Gly506Asp)
 dbSNP gnomAD v4
1g.209625916C>ACA344589717LAMB3c.1708G>T (p.Gly570Cys)
c.1516G>T (p.Gly506Cys)
 dbSNP gnomAD v2 gnomAD v4
1g.209625916C=CA2484299276LAMB3c.1708G= (p.Gly570=)
c.1516G= (p.Gly506=)
1g.209625916C>GCA344589718LAMB3c.1708G>C (p.Gly570Arg)
c.1516G>C (p.Gly506Arg)
1g.209625916C>TCA344589719LAMB3c.1708G>A (p.Gly570Ser)
c.1516G>A (p.Gly506Ser)
 gnomAD v4
1g.209625917T>ACA423142718LAMB3c.1707A>T (p.Arg569=)
c.1515A>T (p.Arg505=)
1g.209625917T>CCA423142719LAMB3c.1707A>G (p.Arg569=)
c.1515A>G (p.Arg505=)
1g.209625917T>GCA423142720LAMB3c.1707A>C (p.Arg569=)
c.1515A>C (p.Arg505=)
1g.209625918C>ACA344589722LAMB3c.1706G>T (p.Arg569Leu)
c.1514G>T (p.Arg505Leu)
 gnomAD v4
1g.209625918C=CA1143619330LAMB3c.1706G= (p.Arg569=)
c.1514G= (p.Arg505=)
1g.209625918C>GCA1375487LAMB3c.1706G>C (p.Arg569Pro)
c.1514G>C (p.Arg505Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209625918C>TCA1375486LAMB3c.1706G>A (p.Arg569Gln)
c.1514G>A (p.Arg505Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.209625919G>ACA273928LAMB3c.1705C>T (p.Arg569Ter)
c.1513C>T (p.Arg505Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209625919G>CCA344589727LAMB3c.1705C>G (p.Arg569Gly)
c.1513C>G (p.Arg505Gly)
 gnomAD v4
1g.209625919G=CA1143490062LAMB3c.1705C= (p.Arg569=)
c.1513C= (p.Arg505=)
1g.209625919G>TCA423142721LAMB3c.1705C>A (p.Arg569=)
c.1513C>A (p.Arg505=)
 dbSNP gnomAD v3 gnomAD v4
1g.209625920C>ACA344589730LAMB3c.1704G>T (p.Gln568His)
c.1512G>T (p.Gln504His)
1g.209625920C>GCA344589731LAMB3c.1704G>C (p.Gln568His)
c.1512G>C (p.Gln504His)
 gnomAD v4
1g.209625920C>TCA423142722LAMB3c.1704G>A (p.Gln568=)
c.1512G>A (p.Gln504=)
 ClinVar gnomAD v4
1g.209625921T>ACA344589734LAMB3c.1703A>T (p.Gln568Leu)
c.1511A>T (p.Gln504Leu)
1g.209625921T>CCA1375488LAMB3c.1703A>G (p.Gln568Arg)
c.1511A>G (p.Gln504Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209625921T>GCA344589736LAMB3c.1703A>C (p.Gln568Pro)
c.1511A>C (p.Gln504Pro)
1g.209625921T=CA1145228355LAMB3c.1703A= (p.Gln568=)
c.1511A= (p.Gln504=)
1g.209625922G>ACA344589738LAMB3c.1702C>T (p.Gln568Ter)
c.1510C>T (p.Gln504Ter)
 ClinVar dbSNP gnomAD v4
1g.209625922G>CCA344589740LAMB3c.1702C>G (p.Gln568Glu)
c.1510C>G (p.Gln504Glu)
1g.209625922G=CA2484299277LAMB3c.1702C= (p.Gln568=)
c.1510C= (p.Gln504=)
1g.209625922G>TCA344589742LAMB3c.1702C>A (p.Gln568Lys)
c.1510C>A (p.Gln504Lys)
 dbSNP
1g.209625923G>ACA1375489LAMB3c.1701C>T (p.Cys567=)
c.1509C>T (p.Cys503=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209625923G>CCA344589745LAMB3c.1701C>G (p.Cys567Trp)
c.1509C>G (p.Cys503Trp)
1g.209625923G=CA2484299278LAMB3c.1701C= (p.Cys567=)
c.1509C= (p.Cys503=)
1g.209625923G>TCA344589747LAMB3c.1701C>A (p.Cys567Ter)
c.1509C>A (p.Cys503Ter)
1g.209625924C>ACA344589753LAMB3c.1700G>T (p.Cys567Phe)
c.1508G>T (p.Cys503Phe)
1g.209625924C>GCA344589749LAMB3c.1700G>C (p.Cys567Ser)
c.1508G>C (p.Cys503Ser)
1g.209625924C>TCA344589751LAMB3c.1700G>A (p.Cys567Tyr)
c.1508G>A (p.Cys503Tyr)
1g.209625925A>CCA344589755LAMB3c.1699T>G (p.Cys567Gly)
c.1507T>G (p.Cys503Gly)
1g.209625925A>GCA344589756LAMB3c.1699T>C (p.Cys567Arg)
c.1507T>C (p.Cys503Arg)
1g.209625925A>TCA344589758LAMB3c.1699T>A (p.Cys567Ser)
c.1507T>A (p.Cys503Ser)
1g.209625926C>ACA344589760LAMB3c.1698G>T (p.Gln566His)
c.1506G>T (p.Gln502His)
1g.209625926C>GCA344589762LAMB3c.1698G>C (p.Gln566His)
c.1506G>C (p.Gln502His)
1g.209625926C>TCA423142723LAMB3c.1698G>A (p.Gln566=)
c.1506G>A (p.Gln502=)
 ClinVar dbSNP COSMIC
1g.209625927T>ACA344589765LAMB3c.1697A>T (p.Gln566Leu)
c.1505A>T (p.Gln502Leu)
1g.209625927T>CCA344589768LAMB3c.1697A>G (p.Gln566Arg)
c.1505A>G (p.Gln502Arg)
1g.209625927T>GCA344589766LAMB3c.1697A>C (p.Gln566Pro)
c.1505A>C (p.Gln502Pro)
1g.209625928G>ACA344589769LAMB3c.1696C>T (p.Gln566Ter)
c.1504C>T (p.Gln502Ter)
1g.209625928G>CCA1375490LAMB3c.1696C>G (p.Gln566Glu)
c.1504C>G (p.Gln502Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209625928G=CA2484299279LAMB3c.1696C= (p.Gln566=)
c.1504C= (p.Gln502=)
1g.209625928G>TCA344589770LAMB3c.1696C>A (p.Gln566Lys)
c.1504C>A (p.Gln502Lys)
1g.209625929G>ACA423142724LAMB3c.1695C>T (p.Asp565=)
c.1503C>T (p.Asp501=)
 gnomAD v4
1g.209625929G>CCA344589773LAMB3c.1695C>G (p.Asp565Glu)
c.1503C>G (p.Asp501Glu)
1g.209625929G>TCA344589774LAMB3c.1695C>A (p.Asp565Glu)
c.1503C>A (p.Asp501Glu)
1g.209625930T>ACA344589777LAMB3c.1694A>T (p.Asp565Val)
c.1502A>T (p.Asp501Val)
1g.209625930T>CCA344589778LAMB3c.1694A>G (p.Asp565Gly)
c.1502A>G (p.Asp501Gly)
1g.209625930T>GCA344589780LAMB3c.1694A>C (p.Asp565Ala)
c.1502A>C (p.Asp501Ala)
 gnomAD v4
1g.209625931C>ACA344589781LAMB3c.1693G>T (p.Asp565Tyr)
c.1501G>T (p.Asp501Tyr)
1g.209625931C>GCA344589782LAMB3c.1693G>C (p.Asp565His)
c.1501G>C (p.Asp501His)
1g.209625931C>TCA344589783LAMB3c.1693G>A (p.Asp565Asn)
c.1501G>A (p.Asp501Asn)
 COSMIC
1g.209625932A>CCA344589784LAMB3c.1692T>G (p.Cys564Trp)
c.1500T>G (p.Cys500Trp)
1g.209625932A>GCA423142725LAMB3c.1692T>C (p.Cys564=)
c.1500T>C (p.Cys500=)
1g.209625932A>TCA344589785LAMB3c.1692T>A (p.Cys564Ter)
c.1500T>A (p.Cys500Ter)
1g.209625933C>ACA344589787LAMB3c.1691G>T (p.Cys564Phe)
c.1499G>T (p.Cys500Phe)
1g.209625933C=CA2484299280LAMB3c.1691G= (p.Cys564=)
c.1499G= (p.Cys500=)
1g.209625933C>GCA344589788LAMB3c.1691G>C (p.Cys564Ser)
c.1499G>C (p.Cys500Ser)
1g.209625933C>TCA344589790LAMB3c.1691G>A (p.Cys564Tyr)
c.1499G>A (p.Cys500Tyr)
 dbSNP gnomAD v2 gnomAD v4
1g.209625934A>CCA344589791LAMB3c.1690T>G (p.Cys564Gly)
c.1498T>G (p.Cys500Gly)
1g.209625934A>GCA344589793LAMB3c.1690T>C (p.Cys564Arg)
c.1498T>C (p.Cys500Arg)
1g.209625934A>TCA344589794LAMB3c.1690T>A (p.Cys564Ser)
c.1498T>A (p.Cys500Ser)
1g.209625935G>ACA423142726LAMB3c.1689C>T (p.Arg563=)
c.1497C>T (p.Arg499=)
1g.209625935G>CCA423142727LAMB3c.1689C>G (p.Arg563=)
c.1497C>G (p.Arg499=)
 gnomAD v4
1g.209625935G>TCA423142728LAMB3c.1689C>A (p.Arg563=)
c.1497C>A (p.Arg499=)
1g.209625936C>ACA344589796LAMB3c.1688G>T (p.Arg563Leu)
c.1496G>T (p.Arg499Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209625936C=CA2484299281LAMB3c.1688G= (p.Arg563=)
c.1496G= (p.Arg499=)
1g.209625936C>GCA1375492LAMB3c.1688G>C (p.Arg563Pro)
c.1496G>C (p.Arg499Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209625936C>TCA1375491LAMB3c.1688G>A (p.Arg563His)
c.1496G>A (p.Arg499His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209625937G>ACA1375493LAMB3c.1687C>T (p.Arg563Cys)
c.1495C>T (p.Arg499Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209625937G>CCA344589810LAMB3c.1687C>G (p.Arg563Gly)
c.1495C>G (p.Arg499Gly)
 gnomAD v4
1g.209625937G=CA2484299282LAMB3c.1687C= (p.Arg563=)
c.1495C= (p.Arg499=)
1g.209625937G>TCA344589812LAMB3c.1687C>A (p.Arg563Ser)
c.1495C>A (p.Arg499Ser)
1g.209625938G>ACA423142731LAMB3c.1686C>T (p.Pro562=)
c.1494C>T (p.Pro498=)
 dbSNP
1g.209625938G>CCA423142730LAMB3c.1686C>G (p.Pro562=)
c.1494C>G (p.Pro498=)
1g.209625938G=CA2484299283LAMB3c.1686C= (p.Pro562=)
c.1494C= (p.Pro498=)
1g.209625938G>TCA423142729LAMB3c.1686C>A (p.Pro562=)
c.1494C>A (p.Pro498=)
1g.209625939G>ACA344589814LAMB3c.1685C>T (p.Pro562Leu)
c.1493C>T (p.Pro498Leu)
 dbSNP gnomAD v2 gnomAD v4
1g.209625939G>CCA344589816LAMB3c.1685C>G (p.Pro562Arg)
c.1493C>G (p.Pro498Arg)
1g.209625939G=CA2484299284LAMB3c.1685C= (p.Pro562=)
c.1493C= (p.Pro498=)
1g.209625939G>TCA344589813LAMB3c.1685C>A (p.Pro562His)
c.1493C>A (p.Pro498His)
1g.209625940G>ACA344589819LAMB3c.1684C>T (p.Pro562Ser)
c.1492C>T (p.Pro498Ser)
 gnomAD v4
1g.209625940G>CCA344589821LAMB3c.1684C>G (p.Pro562Ala)
c.1492C>G (p.Pro498Ala)
1g.209625940G>TCA344589823LAMB3c.1684C>A (p.Pro562Thr)
c.1492C>A (p.Pro498Thr)
1g.209625941C>ACA423142732LAMB3c.1683G>T (p.Gly561=)
c.1491G>T (p.Gly497=)
 ClinVar
1g.209625941C>GCA423142733LAMB3c.1683G>C (p.Gly561=)
c.1491G>C (p.Gly497=)
1g.209625941C>TCA423142734LAMB3c.1683G>A (p.Gly561=)
c.1491G>A (p.Gly497=)
 COSMIC
1g.209625942C>ACA344589825LAMB3c.1682G>T (p.Gly561Val)
c.1490G>T (p.Gly497Val)
1g.209625942C>GCA344589826LAMB3c.1682G>C (p.Gly561Ala)
c.1490G>C (p.Gly497Ala)
1g.209625942C>TCA344589828LAMB3c.1682G>A (p.Gly561Glu)
c.1490G>A (p.Gly497Glu)
1g.209625943C>ACA344589831LAMB3c.1681G>T (p.Gly561Trp)
c.1489G>T (p.Gly497Trp)
1g.209625943C=CA1148889951LAMB3c.1681G= (p.Gly561=)
c.1489G= (p.Gly497=)
1g.209625943C>GCA344589833LAMB3c.1681G>C (p.Gly561Arg)
c.1489G>C (p.Gly497Arg)
 dbSNP gnomAD v4
1g.209625943C>TCA1375494LAMB3c.1681G>A (p.Gly561Arg)
c.1489G>A (p.Gly497Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209625944G>ACA1375495LAMB3c.1680C>T (p.Thr560=)
c.1488C>T (p.Thr496=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209625944G>CCA423142735LAMB3c.1680C>G (p.Thr560=)
c.1488C>G (p.Thr496=)
 gnomAD v4 COSMIC
1g.209625944G=CA1144109476LAMB3c.1680C= (p.Thr560=)
c.1488C= (p.Thr496=)
1g.209625944G>TCA423142736LAMB3c.1680C>A (p.Thr560=)
c.1488C>A (p.Thr496=)
1g.209625945G>ACA344589836LAMB3c.1679C>T (p.Thr560Ile)
c.1487C>T (p.Thr496Ile)
 COSMIC
1g.209625945G>CCA344589837LAMB3c.1679C>G (p.Thr560Ser)
c.1487C>G (p.Thr496Ser)
1g.209625945G>TCA344589839LAMB3c.1679C>A (p.Thr560Asn)
c.1487C>A (p.Thr496Asn)
1g.209625946T>ACA344589842LAMB3c.1678A>T (p.Thr560Ser)
c.1486A>T (p.Thr496Ser)
1g.209625946T>CCA344589845LAMB3c.1678A>G (p.Thr560Ala)
c.1486A>G (p.Thr496Ala)
 dbSNP gnomAD v3 gnomAD v4
1g.209625946T>GCA344589843LAMB3c.1678A>C (p.Thr560Pro)
c.1486A>C (p.Thr496Pro)
 dbSNP
1g.209625946T=CA2484299285LAMB3c.1678A= (p.Thr560=)
c.1486A= (p.Thr496=)
1g.209625947C>ACA1375496LAMB3c.1677G>T (p.Leu559Phe)
c.1485G>T (p.Leu495Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209625947C=CA1141391533LAMB3c.1677G= (p.Leu559=)
c.1485G= (p.Leu495=)
1g.209625947C>GCA344589849LAMB3c.1677G>C (p.Leu559Phe)
c.1485G>C (p.Leu495Phe)
1g.209625947C>TCA423142737LAMB3c.1677G>A (p.Leu559=)
c.1485G>A (p.Leu495=)
1g.209625947_209625948delinsCACA2484299286LAMB3c.1676_1677delinsTG (p.Leu559=)
c.1484_1485delinsTG (p.Leu495=)
1g.209625948A>CCA344589851LAMB3c.1676T>G (p.Leu559Trp)
c.1484T>G (p.Leu495Trp)
1g.209625948A>GCA344589853LAMB3c.1676T>C (p.Leu559Ser)
c.1484T>C (p.Leu495Ser)
1g.209625948A>TCA344589855LAMB3c.1676T>A (p.Leu559Ter)
c.1484T>A (p.Leu495Ter)
1g.209625949delCA2484299287LAMB3c.1676del (p.Leu559Ter)
c.1484del (p.Leu495Ter)
 ClinVar dbSNP gnomAD v4
1g.209625949A>CCA344589857LAMB3c.1675T>G (p.Leu559Val)
c.1483T>G (p.Leu495Val)
1g.209625949A>GCA423142738LAMB3c.1675T>C (p.Leu559=)
c.1483T>C (p.Leu495=)
1g.209625949A>TCA344589859LAMB3c.1675T>A (p.Leu559Met)
c.1483T>A (p.Leu495Met)
1g.209625950G>ACA423142739LAMB3c.1674C>T (p.Gly558=)
c.1482C>T (p.Gly494=)
1g.209625950G>CCA423142741LAMB3c.1674C>G (p.Gly558=)
c.1482C>G (p.Gly494=)
 ClinVar gnomAD v4
1g.209625950G>TCA423142740LAMB3c.1674C>A (p.Gly558=)
c.1482C>A (p.Gly494=)
1g.209625951C>ACA344589865LAMB3c.1673G>T (p.Gly558Val)
c.1481G>T (p.Gly494Val)
1g.209625951C>GCA344589864LAMB3c.1673G>C (p.Gly558Ala)
c.1481G>C (p.Gly494Ala)
1g.209625951C>TCA344589861LAMB3c.1673G>A (p.Gly558Asp)
c.1481G>A (p.Gly494Asp)
1g.209625952C>ACA344589868LAMB3c.1672G>T (p.Gly558Cys)
c.1480G>T (p.Gly494Cys)
1g.209625952C>GCA344589870LAMB3c.1672G>C (p.Gly558Arg)
c.1480G>C (p.Gly494Arg)
1g.209625952C>TCA344589872LAMB3c.1672G>A (p.Gly558Ser)
c.1480G>A (p.Gly494Ser)
1g.209625953A>CCA423142742LAMB3c.1671T>G (p.Pro557=)
c.1479T>G (p.Pro493=)
 gnomAD v4
1g.209625953A>GCA423142743LAMB3c.1671T>C (p.Pro557=)
c.1479T>C (p.Pro493=)
1g.209625953A>TCA423142744LAMB3c.1671T>A (p.Pro557=)
c.1479T>A (p.Pro493=)
1g.209625954G>ACA1375497LAMB3c.1670C>T (p.Pro557Leu)
c.1478C>T (p.Pro493Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209625954G>CCA344589876LAMB3c.1670C>G (p.Pro557Arg)
c.1478C>G (p.Pro493Arg)
1g.209625954G=CA1148406587LAMB3c.1670C= (p.Pro557=)
c.1478C= (p.Pro493=)
1g.209625954G>TCA344589878LAMB3c.1670C>A (p.Pro557His)
c.1478C>A (p.Pro493His)
1g.209625955G>ACA344589883LAMB3c.1669C>T (p.Pro557Ser)
c.1477C>T (p.Pro493Ser)
1g.209625955G>CCA344589880LAMB3c.1669C>G (p.Pro557Ala)
c.1477C>G (p.Pro493Ala)
1g.209625955G>TCA344589882LAMB3c.1669C>A (p.Pro557Thr)
c.1477C>A (p.Pro493Thr)
1g.209625956G>ACA36756433LAMB3c.1668C>T (p.Arg556=)
c.1476C>T (p.Arg492=)
 ClinVar dbSNP gnomAD v4
1g.209625956G>CCA423142745LAMB3c.1668C>G (p.Arg556=)
c.1476C>G (p.Arg492=)
1g.209625956G=CA2484299288LAMB3c.1668C= (p.Arg556=)
c.1476C= (p.Arg492=)
1g.209625956G>TCA423142746LAMB3c.1668C>A (p.Arg556=)
c.1476C>A (p.Arg492=)
1g.209625957C>ACA1375499LAMB3c.1667G>T (p.Arg556Leu)
c.1475G>T (p.Arg492Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209625957C=CA1143767728LAMB3c.1667G= (p.Arg556=)
c.1475G= (p.Arg492=)
1g.209625957C>GCA344589888LAMB3c.1667G>C (p.Arg556Pro)
c.1475G>C (p.Arg492Pro)
 COSMIC
1g.209625957C>TCA1375498LAMB3c.1667G>A (p.Arg556His)
c.1475G>A (p.Arg492His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.209625958G>ACA1375500LAMB3c.1666C>T (p.Arg556Cys)
c.1474C>T (p.Arg492Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209625958G>CCA344589894LAMB3c.1666C>G (p.Arg556Gly)
c.1474C>G (p.Arg492Gly)
1g.209625958G=CA1148229979LAMB3c.1666C= (p.Arg556=)
c.1474C= (p.Arg492=)
1g.209625958G>TCA344589896LAMB3c.1666C>A (p.Arg556Ser)
c.1474C>A (p.Arg492Ser)
 dbSNP
1g.209625959G>ACA423142747LAMB3c.1665C>T (p.Cys555=)
c.1473C>T (p.Cys491=)
1g.209625959G>CCA344589897LAMB3c.1665C>G (p.Cys555Trp)
c.1473C>G (p.Cys491Trp)
1g.209625959G=CA2484299289LAMB3c.1665C= (p.Cys555=)
c.1473C= (p.Cys491=)
1g.209625959G>TCA344589898LAMB3c.1665C>A (p.Cys555Ter)
c.1473C>A (p.Cys491Ter)
 ClinVar dbSNP
1g.209625960C>ACA344589899LAMB3c.1664G>T (p.Cys555Phe)
c.1472G>T (p.Cys491Phe)
1g.209625960C>GCA344589900LAMB3c.1664G>C (p.Cys555Ser)
c.1472G>C (p.Cys491Ser)
1g.209625960C>TCA344589901LAMB3c.1664G>A (p.Cys555Tyr)
c.1472G>A (p.Cys491Tyr)
1g.209625961A=CA2484299290LAMB3c.1663T= (p.Cys555=)
c.1471T= (p.Cys491=)
1g.209625961A>CCA344589902LAMB3c.1663T>G (p.Cys555Gly)
c.1471T>G (p.Cys491Gly)
 gnomAD v4
1g.209625961A>GCA344589904LAMB3c.1663T>C (p.Cys555Arg)
c.1471T>C (p.Cys491Arg)
 dbSNP gnomAD v4
1g.209625961A>TCA344589903LAMB3c.1663T>A (p.Cys555Ser)
c.1471T>A (p.Cys491Ser)
1g.209625962G>ACA423142748LAMB3c.1662C>T (p.Leu554=)
c.1470C>T (p.Leu490=)
1g.209625962G>CCA423142749LAMB3c.1662C>G (p.Leu554=)
c.1470C>G (p.Leu490=)
1g.209625962G=CA2484299291LAMB3c.1662C= (p.Leu554=)
c.1470C= (p.Leu490=)
1g.209625962G>TCA423142750LAMB3c.1662C>A (p.Leu554=)
c.1470C>A (p.Leu490=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.209625963A>CCA344589905LAMB3c.1661T>G (p.Leu554Arg)
c.1469T>G (p.Leu490Arg)
1g.209625963A>GCA344589906LAMB3c.1661T>C (p.Leu554Pro)
c.1469T>C (p.Leu490Pro)
1g.209625963A>TCA344589907LAMB3c.1661T>A (p.Leu554His)
c.1469T>A (p.Leu490His)
1g.209625964G>ACA344589908LAMB3c.1660C>T (p.Leu554Phe)
c.1468C>T (p.Leu490Phe)
 gnomAD v4
1g.209625964G>CCA344589909LAMB3c.1660C>G (p.Leu554Val)
c.1468C>G (p.Leu490Val)
1g.209625964G>TCA344589910LAMB3c.1660C>A (p.Leu554Ile)
c.1468C>A (p.Leu490Ile)
1g.209625965G>ACA423142751LAMB3c.1659C>T (p.Cys553=)
c.1467C>T (p.Cys489=)
1g.209625965G>CCA344589911LAMB3c.1659C>G (p.Cys553Trp)
c.1467C>G (p.Cys489Trp)
1g.209625965G>TCA344589912LAMB3c.1659C>A (p.Cys553Ter)
c.1467C>A (p.Cys489Ter)
1g.209625966C>ACA344589913LAMB3c.1658G>T (p.Cys553Phe)
c.1466G>T (p.Cys489Phe)
1g.209625966C=CA1144049263LAMB3c.1658G= (p.Cys553=)
c.1466G= (p.Cys489=)
1g.209625966C>GCA344589914LAMB3c.1658G>C (p.Cys553Ser)
c.1466G>C (p.Cys489Ser)
1g.209625966C>TCA36756440LAMB3c.1658G>A (p.Cys553Tyr)
c.1466G>A (p.Cys489Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209625967delCA2573130651LAMB3c.1657del (p.Cys553AlafsTer7)
c.1465del (p.Cys489AlafsTer7)
 ClinVar dbSNP
1g.209625967A>CCA344589917LAMB3c.1657T>G (p.Cys553Gly)
c.1465T>G (p.Cys489Gly)
1g.209625967A>GCA344589916LAMB3c.1657T>C (p.Cys553Arg)
c.1465T>C (p.Cys489Arg)
1g.209625967A>TCA344589915LAMB3c.1657T>A (p.Cys553Ser)
c.1465T>A (p.Cys489Ser)
1g.209625968G>ACA423142752LAMB3c.1656C>T (p.Arg552=)
c.1464C>T (p.Arg488=)
1g.209625968G>CCA423142753LAMB3c.1656C>G (p.Arg552=)
c.1464C>G (p.Arg488=)
1g.209625968G>TCA423142754LAMB3c.1656C>A (p.Arg552=)
c.1464C>A (p.Arg488=)
1g.209625969C>ACA344589918LAMB3c.1655G>T (p.Arg552Leu)
c.1463G>T (p.Arg488Leu)
 dbSNP gnomAD v3 gnomAD v4
1g.209625969C=CA1143464408LAMB3c.1655G= (p.Arg552=)
c.1463G= (p.Arg488=)
1g.209625969C>GCA344589919LAMB3c.1655G>C (p.Arg552Pro)
c.1463G>C (p.Arg488Pro)
1g.209625969C>TCA1375501LAMB3c.1655G>A (p.Arg552His)
c.1463G>A (p.Arg488His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209625970G>ACA1375502LAMB3c.1654C>T (p.Arg552Cys)
c.1462C>T (p.Arg488Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.209625970G>CCA344589920LAMB3c.1654C>G (p.Arg552Gly)
c.1462C>G (p.Arg488Gly)
1g.209625970G=CA2484299292LAMB3c.1654C= (p.Arg552=)
c.1462C= (p.Arg488=)
1g.209625970G>TCA344589921LAMB3c.1654C>A (p.Arg552Ser)
c.1462C>A (p.Arg488Ser)
1g.209625971G>ACA423142755LAMB3c.1653C>T (p.Gly551=)
c.1461C>T (p.Gly487=)
1g.209625971G>CCA423142756LAMB3c.1653C>G (p.Gly551=)
c.1461C>G (p.Gly487=)
 gnomAD v4
1g.209625971G=CA2484299293LAMB3c.1653C= (p.Gly551=)
c.1461C= (p.Gly487=)
1g.209625971G>TCA423142757LAMB3c.1653C>A (p.Gly551=)
c.1461C>A (p.Gly487=)
 dbSNP
1g.209625972C>ACA344589922LAMB3c.1652G>T (p.Gly551Val)
c.1460G>T (p.Gly487Val)
1g.209625972C=CA2484299294LAMB3c.1652G= (p.Gly551=)
c.1460G= (p.Gly487=)
1g.209625972C>GCA344589923LAMB3c.1652G>C (p.Gly551Ala)
c.1460G>C (p.Gly487Ala)
1g.209625972C>TCA344589924LAMB3c.1652G>A (p.Gly551Asp)
c.1460G>A (p.Gly487Asp)
 dbSNP gnomAD v2 gnomAD v4
1g.209625973C>ACA344589925LAMB3c.1651G>T (p.Gly551Cys)
c.1459G>T (p.Gly487Cys)
1g.209625973C=CA2484299295LAMB3c.1651G= (p.Gly551=)
c.1459G= (p.Gly487=)
1g.209625973C>GCA344589926LAMB3c.1651G>C (p.Gly551Arg)
c.1459G>C (p.Gly487Arg)
1g.209625973C>TCA1375503LAMB3c.1651G>A (p.Gly551Ser)
c.1459G>A (p.Gly487Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209625974T>ACA423142760LAMB3c.1650A>T (p.Ser550=)
c.1458A>T (p.Ser486=)
1g.209625974T>CCA423142759LAMB3c.1650A>G (p.Ser550=)
c.1458A>G (p.Ser486=)
 dbSNP
1g.209625974T>GCA423142758LAMB3c.1650A>C (p.Ser550=)
c.1458A>C (p.Ser486=)
1g.209625975G>ACA344589929LAMB3c.1649C>T (p.Ser550Leu)
c.1457C>T (p.Ser486Leu)
 dbSNP gnomAD v4 COSMIC
1g.209625975G>CCA344589928LAMB3c.1649C>G (p.Ser550Ter)
c.1457C>G (p.Ser486Ter)
1g.209625975G=CA2484299296LAMB3c.1649C= (p.Ser550=)
c.1457C= (p.Ser486=)
1g.209625975G>TCA344589927LAMB3c.1649C>A (p.Ser550Ter)
c.1457C>A (p.Ser486Ter)
1g.209625976A>CCA344589930LAMB3c.1648T>G (p.Ser550Ala)
c.1456T>G (p.Ser486Ala)
1g.209625976A>GCA344589932LAMB3c.1648T>C (p.Ser550Pro)
c.1456T>C (p.Ser486Pro)
1g.209625976A>TCA344589931LAMB3c.1648T>A (p.Ser550Thr)
c.1456T>A (p.Ser486Thr)
1g.209625977T>ACA423142761LAMB3c.1647A>T (p.Ala549=)
c.1455A>T (p.Ala485=)
1g.209625977T>CCA423142762LAMB3c.1647A>G (p.Ala549=)
c.1455A>G (p.Ala485=)
 gnomAD v4
1g.209625977T>GCA423142763LAMB3c.1647A>C (p.Ala549=)
c.1455A>C (p.Ala485=)
1g.209625978G>ACA344589933LAMB3c.1646C>T (p.Ala549Val)
c.1454C>T (p.Ala485Val)
1g.209625978G>CCA344589934LAMB3c.1646C>G (p.Ala549Gly)
c.1454C>G (p.Ala485Gly)
1g.209625978G>TCA344589935LAMB3c.1646C>A (p.Ala549Glu)
c.1454C>A (p.Ala485Glu)
1g.209625978_209626007delinsGCCTTGTCGCAGCCCGGGCCCTCTGTTCCCCA2484299297LAMB3c.1617_1646delinsGGGAACAGAGGGCCCGGGCTGCGACAAGGC (p.Arg539=)
c.1425_1454delinsGGGAACAGAGGGCCCGGGCTGCGACAAGGC (p.Arg475=)
1g.209625979C>ACA344589937LAMB3c.1645G>T (p.Ala549Ser)
c.1453G>T (p.Ala485Ser)
 gnomAD v4
1g.209625979C=CA2484299298LAMB3c.1645G= (p.Ala549=)
c.1453G= (p.Ala485=)
1g.209625979C>GCA344589938LAMB3c.1645G>C (p.Ala549Pro)
c.1453G>C (p.Ala485Pro)
1g.209625979C>TCA1375504LAMB3c.1645G>A (p.Ala549Thr)
c.1453G>A (p.Ala485Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209625980_209626008delCA36756450LAMB3c.1617_1645del (p.Gly540IlefsTer16)
c.1425_1453del (p.Gly476IlefsTer16)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209625980C>ACA344589939LAMB3c.1644G>T (p.Lys548Asn)
c.1452G>T (p.Lys484Asn)
1g.209625980C=CA2484299299LAMB3c.1644G= (p.Lys548=)
c.1452G= (p.Lys484=)
1g.209625980C>GCA344589941LAMB3c.1644G>C (p.Lys548Asn)
c.1452G>C (p.Lys484Asn)
1g.209625980C>TCA423142764LAMB3c.1644G>A (p.Lys548=)
c.1452G>A (p.Lys484=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.209625981T>ACA344589943LAMB3c.1643A>T (p.Lys548Met)
c.1451A>T (p.Lys484Met)
1g.209625981T>CCA344589944LAMB3c.1643A>G (p.Lys548Arg)
c.1451A>G (p.Lys484Arg)
1g.209625981T>GCA344589945LAMB3c.1643A>C (p.Lys548Thr)
c.1451A>C (p.Lys484Thr)
1g.209625982T>ACA344589947LAMB3c.1642A>T (p.Lys548Ter)
c.1450A>T (p.Lys484Ter)
 COSMIC
1g.209625982T>CCA36756454LAMB3c.1642A>G (p.Lys548Glu)
c.1450A>G (p.Lys484Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209625982T>GCA344589946LAMB3c.1642A>C (p.Lys548Gln)
c.1450A>C (p.Lys484Gln)
1g.209625982T=CA2484299300LAMB3c.1642A= (p.Lys548=)
c.1450A= (p.Lys484=)
1g.209625983G>ACA423142765LAMB3c.1641C>T (p.Asp547=)
c.1449C>T (p.Asp483=)
 gnomAD v4
1g.209625983G>CCA344589948LAMB3c.1641C>G (p.Asp547Glu)
c.1449C>G (p.Asp483Glu)
1g.209625983G=CA2484299301LAMB3c.1641C= (p.Asp547=)
c.1449C= (p.Asp483=)
1g.209625983G>TCA1375505LAMB3c.1641C>A (p.Asp547Glu)
c.1449C>A (p.Asp483Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209625984T>ACA344589949LAMB3c.1640A>T (p.Asp547Val)
c.1448A>T (p.Asp483Val)
1g.209625984T>CCA344589950LAMB3c.1640A>G (p.Asp547Gly)
c.1448A>G (p.Asp483Gly)
 gnomAD v4
1g.209625984T>GCA344589951LAMB3c.1640A>C (p.Asp547Ala)
c.1448A>C (p.Asp483Ala)
1g.209625985C>ACA344589952LAMB3c.1639G>T (p.Asp547Tyr)
c.1447G>T (p.Asp483Tyr)
1g.209625985C=CA2484299302LAMB3c.1639G= (p.Asp547=)
c.1447G= (p.Asp483=)
1g.209625985C>GCA344589953LAMB3c.1639G>C (p.Asp547His)
c.1447G>C (p.Asp483His)
 gnomAD v4
1g.209625985C>TCA1375506LAMB3c.1639G>A (p.Asp547Asn)
c.1447G>A (p.Asp483Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209625986G>ACA1375507LAMB3c.1638C>T (p.Cys546=)
c.1446C>T (p.Cys482=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209625986G>CCA344589954LAMB3c.1638C>G (p.Cys546Trp)
c.1446C>G (p.Cys482Trp)
 dbSNP gnomAD v2 gnomAD v4
1g.209625986G=CA1146361314LAMB3c.1638C= (p.Cys546=)
c.1446C= (p.Cys482=)
1g.209625986G>TCA344589955LAMB3c.1638C>A (p.Cys546Ter)
c.1446C>A (p.Cys482Ter)
1g.209625987C>ACA344589957LAMB3c.1637G>T (p.Cys546Phe)
c.1445G>T (p.Cys482Phe)
1g.209625987C=CA2484299303LAMB3c.1637G= (p.Cys546=)
c.1445G= (p.Cys482=)
1g.209625987C>GCA344589958LAMB3c.1637G>C (p.Cys546Ser)
c.1445G>C (p.Cys482Ser)
1g.209625987C>TCA344589956LAMB3c.1637G>A (p.Cys546Tyr)
c.1445G>A (p.Cys482Tyr)
 dbSNP gnomAD v3 gnomAD v4
1g.209625988A=CA2484299304LAMB3c.1636T= (p.Cys546=)
c.1444T= (p.Cys482=)
1g.209625988A>CCA344589959LAMB3c.1636T>G (p.Cys546Gly)
c.1444T>G (p.Cys482Gly)
1g.209625988A>GCA344589960LAMB3c.1636T>C (p.Cys546Arg)
c.1444T>C (p.Cys482Arg)
 dbSNP gnomAD v2 gnomAD v4
1g.209625988A>TCA344589961LAMB3c.1636T>A (p.Cys546Ser)
c.1444T>A (p.Cys482Ser)
1g.209625989G>ACA423142766LAMB3c.1635C>T (p.Gly545=)
c.1443C>T (p.Gly481=)
1g.209625989G>CCA423142767LAMB3c.1635C>G (p.Gly545=)
c.1443C>G (p.Gly481=)
1g.209625989G>TCA423142768LAMB3c.1635C>A (p.Gly545=)
c.1443C>A (p.Gly481=)
1g.209625989_209625990delinsGCCA2484299305LAMB3c.1634_1635delinsGC (p.Gly545=)
c.1442_1443delinsGC (p.Gly481=)
1g.209625990C>ACA344589962LAMB3c.1634G>T (p.Gly545Val)
c.1442G>T (p.Gly481Val)
 dbSNP gnomAD v3 gnomAD v4
1g.209625990C=CA2484299307LAMB3c.1634G= (p.Gly545=)
c.1442G= (p.Gly481=)
1g.209625990C>GCA344589963LAMB3c.1634G>C (p.Gly545Ala)
c.1442G>C (p.Gly481Ala)
1g.209625990C>TCA344589964LAMB3c.1634G>A (p.Gly545Asp)
c.1442G>A (p.Gly481Asp)
1g.209625992dupCA2650321920LAMB3c.1634dup (p.Cys546LeufsTer20)
c.1442dup (p.Cys482LeufsTer20)
 gnomAD v4
1g.209625992delCA2484299306LAMB3c.1634del (p.Gly545AlafsTer15)
c.1442del (p.Gly481AlafsTer15)
 ClinVar dbSNP
1g.209625991C>ACA344589965LAMB3c.1633G>T (p.Gly545Cys)
c.1441G>T (p.Gly481Cys)
1g.209625991C=CA2484299308LAMB3c.1633G= (p.Gly545=)
c.1441G= (p.Gly481=)
1g.209625991C>GCA344589966LAMB3c.1633G>C (p.Gly545Arg)
c.1441G>C (p.Gly481Arg)
1g.209625991C>TCA344589967LAMB3c.1633G>A (p.Gly545Ser)
c.1441G>A (p.Gly481Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209625992C>ACA423142769LAMB3c.1632G>T (p.Pro544=)
c.1440G>T (p.Pro480=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.209625992C=CA2484299309LAMB3c.1632G= (p.Pro544=)
c.1440G= (p.Pro480=)
1g.209625992C>GCA423142770LAMB3c.1632G>C (p.Pro544=)
c.1440G>C (p.Pro480=)
1g.209625992C>TCA1375508LAMB3c.1632G>A (p.Pro544=)
c.1440G>A (p.Pro480=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209625993G>ACA1375509LAMB3c.1631C>T (p.Pro544Leu)
c.1439C>T (p.Pro480Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209625993G>CCA344589968LAMB3c.1631C>G (p.Pro544Arg)
c.1439C>G (p.Pro480Arg)
 gnomAD v4
1g.209625993G=CA1146973016LAMB3c.1631C= (p.Pro544=)
c.1439C= (p.Pro480=)
1g.209625993G>TCA344589969LAMB3c.1631C>A (p.Pro544Gln)
c.1439C>A (p.Pro480Gln)
1g.209625994G>ACA344589972LAMB3c.1630C>T (p.Pro544Ser)
c.1438C>T (p.Pro480Ser)
1g.209625994G>CCA344589971LAMB3c.1630C>G (p.Pro544Ala)
c.1438C>G (p.Pro480Ala)
1g.209625994G>TCA344589970LAMB3c.1630C>A (p.Pro544Thr)
c.1438C>A (p.Pro480Thr)
1g.209625995G>ACA423142771LAMB3c.1629C>T (p.Gly543=)
c.1437C>T (p.Gly479=)
 ClinVar dbSNP gnomAD v4
1g.209625995G>CCA423142772LAMB3c.1629C>G (p.Gly543=)
c.1437C>G (p.Gly479=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.209625995G=CA2484299310LAMB3c.1629C= (p.Gly543=)
c.1437C= (p.Gly479=)
1g.209625995G>TCA423142773LAMB3c.1629C>A (p.Gly543=)
c.1437C>A (p.Gly479=)
1g.209625996C>ACA344589973LAMB3c.1628G>T (p.Gly543Val)
c.1436G>T (p.Gly479Val)
1g.209625996C=CA2484299311LAMB3c.1628G= (p.Gly543=)
c.1436G= (p.Gly479=)
1g.209625996C>GCA344589974LAMB3c.1628G>C (p.Gly543Ala)
c.1436G>C (p.Gly479Ala)
1g.209625996C>TCA344589975LAMB3c.1628G>A (p.Gly543Asp)
c.1436G>A (p.Gly479Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209625996_209625998delinsCCCCA1148455116LAMB3c.1626_1628delinsGGG (p.Glu542=)
c.1434_1436delinsGGG (p.Glu478=)
1g.209625998dupCA1375510LAMB3c.1628dup (p.Cys546LeufsTer20)
c.1436dup (p.Cys482LeufsTer20)
 ClinVar dbSNP ExAC gnomAD v4
1g.209625997C>ACA344589976LAMB3c.1627G>T (p.Gly543Cys)
c.1435G>T (p.Gly479Cys)
1g.209625997C=CA2484299312LAMB3c.1627G= (p.Gly543=)
c.1435G= (p.Gly479=)
1g.209625997C>GCA344589977LAMB3c.1627G>C (p.Gly543Arg)
c.1435G>C (p.Gly479Arg)
1g.209625997C>TCA1375511LAMB3c.1627G>A (p.Gly543Ser)
c.1435G>A (p.Gly479Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209625998C>ACA344589978LAMB3c.1626G>T (p.Glu542Asp)
c.1434G>T (p.Glu478Asp)
1g.209625998C>GCA344589979LAMB3c.1626G>C (p.Glu542Asp)
c.1434G>C (p.Glu478Asp)
1g.209625998C>TCA423142774LAMB3c.1626G>A (p.Glu542=)
c.1434G>A (p.Glu478=)
1g.209625999T>ACA344589980LAMB3c.1625A>T (p.Glu542Val)
c.1433A>T (p.Glu478Val)
1g.209625999T>CCA344589981LAMB3c.1625A>G (p.Glu542Gly)
c.1433A>G (p.Glu478Gly)
 dbSNP
1g.209625999T>GCA344589982LAMB3c.1625A>C (p.Glu542Ala)
c.1433A>C (p.Glu478Ala)
1g.209626000C>ACA344589983LAMB3c.1624G>T (p.Glu542Ter)
c.1432G>T (p.Glu478Ter)
1g.209626000C=CA2484299313LAMB3c.1624G= (p.Glu542=)
c.1432G= (p.Glu478=)
1g.209626000C>GCA344589985LAMB3c.1624G>C (p.Glu542Gln)
c.1432G>C (p.Glu478Gln)
1g.209626000C>TCA344589984LAMB3c.1624G>A (p.Glu542Lys)
c.1432G>A (p.Glu478Lys)
 dbSNP gnomAD v2 gnomAD v4
1g.209626001T>ACA423142775LAMB3c.1623A>T (p.Thr541=)
c.1431A>T (p.Thr477=)
1g.209626001T>CCA423142777LAMB3c.1623A>G (p.Thr541=)
c.1431A>G (p.Thr477=)
1g.209626001T>GCA423142776LAMB3c.1623A>C (p.Thr541=)
c.1431A>C (p.Thr477=)
1g.209626002G>ACA344589986LAMB3c.1622C>T (p.Thr541Ile)
c.1430C>T (p.Thr477Ile)
1g.209626002G>CCA1375512LAMB3c.1622C>G (p.Thr541Arg)
c.1430C>G (p.Thr477Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209626002G=CA2484299314LAMB3c.1622C= (p.Thr541=)
c.1430C= (p.Thr477=)
1g.209626002G>TCA344589987LAMB3c.1622C>A (p.Thr541Lys)
c.1430C>A (p.Thr477Lys)
 gnomAD v4
1g.209626003T>ACA344589988LAMB3c.1621A>T (p.Thr541Ser)
c.1429A>T (p.Thr477Ser)
 gnomAD v4
1g.209626003T>CCA344589990LAMB3c.1621A>G (p.Thr541Ala)
c.1429A>G (p.Thr477Ala)
 dbSNP gnomAD v2 gnomAD v4
1g.209626003T>GCA344589989LAMB3c.1621A>C (p.Thr541Pro)
c.1429A>C (p.Thr477Pro)
1g.209626003T=CA2484299315LAMB3c.1621A= (p.Thr541=)
c.1429A= (p.Thr477=)
1g.209626004T>ACA423142778LAMB3c.1620A>T (p.Gly540=)
c.1428A>T (p.Gly476=)
1g.209626004T>CCA423142779LAMB3c.1620A>G (p.Gly540=)
c.1428A>G (p.Gly476=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209626004T>GCA423142780LAMB3c.1620A>C (p.Gly540=)
c.1428A>C (p.Gly476=)
1g.209626004T=CA2484299316LAMB3c.1620A= (p.Gly540=)
c.1428A= (p.Gly476=)

Number of alleles fetched