Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)
1g.209626005C>ACA344589991LAMB3c.1619G>T (p.Gly540Val)
c.1427G>T (p.Gly476Val)
1g.209626005C=CA2484299317LAMB3c.1619G= (p.Gly540=)
c.1427G= (p.Gly476=)
1g.209626005C>GCA344589992LAMB3c.1619G>C (p.Gly540Ala)
c.1427G>C (p.Gly476Ala)
1g.209626005C>TCA1375513LAMB3c.1619G>A (p.Gly540Glu)
c.1427G>A (p.Gly476Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209626008delCA2580061992LAMB3c.1619del (p.Gly540GlufsTer20)
c.1427del (p.Gly476GlufsTer20)
 ClinVar
1g.209626006C>ACA344589993LAMB3c.1618G>T (p.Gly540Ter)
c.1426G>T (p.Gly476Ter)
1g.209626006C=CA2484299318LAMB3c.1618G= (p.Gly540=)
c.1426G= (p.Gly476=)
1g.209626006C>GCA344589995LAMB3c.1618G>C (p.Gly540Arg)
c.1426G>C (p.Gly476Arg)
 dbSNP gnomAD v2 gnomAD v4
1g.209626006C>TCA344589994LAMB3c.1618G>A (p.Gly540Arg)
c.1426G>A (p.Gly476Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209626007C>ACA423142781LAMB3c.1617G>T (p.Arg539=)
c.1425G>T (p.Arg475=)
 dbSNP gnomAD v2 gnomAD v4
1g.209626007C=CA2484299319LAMB3c.1617G= (p.Arg539=)
c.1425G= (p.Arg475=)
1g.209626007C>GCA423142782LAMB3c.1617G>C (p.Arg539=)
c.1425G>C (p.Arg475=)
1g.209626007C>TCA423142783LAMB3c.1617G>A (p.Arg539=)
c.1425G>A (p.Arg475=)
1g.209626008C>ACA344589996LAMB3c.1616G>T (p.Arg539Leu)
c.1424G>T (p.Arg475Leu)
 gnomAD v4
1g.209626008C=CA1144496997LAMB3c.1616G= (p.Arg539=)
c.1424G= (p.Arg475=)
1g.209626008C>GCA344589997LAMB3c.1616G>C (p.Arg539Pro)
c.1424G>C (p.Arg475Pro)
 dbSNP gnomAD v2 gnomAD v4
1g.209626008C>TCA1375514LAMB3c.1616G>A (p.Arg539Gln)
c.1424G>A (p.Arg475Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209626009G>ACA1375515LAMB3c.1615C>T (p.Arg539Trp)
c.1423C>T (p.Arg475Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.209626009G>CCA344589998LAMB3c.1615C>G (p.Arg539Gly)
c.1423C>G (p.Arg475Gly)
1g.209626009G=CA1143408858LAMB3c.1615C= (p.Arg539=)
c.1423C= (p.Arg475=)
1g.209626009G>TCA423142784LAMB3c.1615C>A (p.Arg539=)
c.1423C>A (p.Arg475=)
 gnomAD v4
1g.209626009_209626011dupCA529000142LAMB3c.1613_1615dup (p.Phe538_Arg539insLeu)
c.1421_1423dup (p.Phe474_Arg475insLeu)
 dbSNP gnomAD v2 gnomAD v4
1g.209626010G>ACA423142785LAMB3c.1614C>T (p.Phe538=)
c.1422C>T (p.Phe474=)
1g.209626010G>CCA344589999LAMB3c.1614C>G (p.Phe538Leu)
c.1422C>G (p.Phe474Leu)
1g.209626010G>TCA344590000LAMB3c.1614C>A (p.Phe538Leu)
c.1422C>A (p.Phe474Leu)
1g.209626011A>CCA344590001LAMB3c.1613T>G (p.Phe538Cys)
c.1421T>G (p.Phe474Cys)
1g.209626011A>GCA344590002LAMB3c.1613T>C (p.Phe538Ser)
c.1421T>C (p.Phe474Ser)
1g.209626011A>TCA344590003LAMB3c.1613T>A (p.Phe538Tyr)
c.1421T>A (p.Phe474Tyr)
1g.209626012A>CCA344590004LAMB3c.1612T>G (p.Phe538Val)
c.1420T>G (p.Phe474Val)
1g.209626012A>GCA344590005LAMB3c.1612T>C (p.Phe538Leu)
c.1420T>C (p.Phe474Leu)
1g.209626012A>TCA344590006LAMB3c.1612T>A (p.Phe538Ile)
c.1420T>A (p.Phe474Ile)
1g.209626013A=CA2484299320LAMB3c.1611T= (p.Asp537=)
c.1419T= (p.Asp473=)
1g.209626013A>CCA344590007LAMB3c.1611T>G (p.Asp537Glu)
c.1419T>G (p.Asp473Glu)
1g.209626013A>GCA1375516LAMB3c.1611T>C (p.Asp537=)
c.1419T>C (p.Asp473=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209626013A>TCA344590008LAMB3c.1611T>A (p.Asp537Glu)
c.1419T>A (p.Asp473Glu)
1g.209626014T>ACA344590011LAMB3c.1610A>T (p.Asp537Val)
c.1418A>T (p.Asp473Val)
1g.209626014T>CCA344590010LAMB3c.1610A>G (p.Asp537Gly)
c.1418A>G (p.Asp473Gly)
1g.209626014T>GCA344590009LAMB3c.1610A>C (p.Asp537Ala)
c.1418A>C (p.Asp473Ala)
1g.209626015C>ACA344590012LAMB3c.1609G>T (p.Asp537Tyr)
c.1417G>T (p.Asp473Tyr)
 COSMIC
1g.209626015C=CA2484299321LAMB3c.1609G= (p.Asp537=)
c.1417G= (p.Asp473=)
1g.209626015C>GCA344590013LAMB3c.1609G>C (p.Asp537His)
c.1417G>C (p.Asp473His)
1g.209626015C>TCA1375517LAMB3c.1609G>A (p.Asp537Asn)
c.1417G>A (p.Asp473Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209626016A>CCA344590014LAMB3c.1608T>G (p.Cys536Trp)
c.1416T>G (p.Cys472Trp)
1g.209626016A>GCA423142786LAMB3c.1608T>C (p.Cys536=)
c.1416T>C (p.Cys472=)
1g.209626016A>TCA344590015LAMB3c.1608T>A (p.Cys536Ter)
c.1416T>A (p.Cys472Ter)
1g.209626017C>ACA344590016LAMB3c.1607G>T (p.Cys536Phe)
c.1415G>T (p.Cys472Phe)
1g.209626017C>GCA344590017LAMB3c.1607G>C (p.Cys536Ser)
c.1415G>C (p.Cys472Ser)
 gnomAD v4
1g.209626017C>TCA344590018LAMB3c.1607G>A (p.Cys536Tyr)
c.1415G>A (p.Cys472Tyr)
1g.209626018A=CA1148231783LAMB3c.1606T= (p.Cys536=)
c.1414T= (p.Cys472=)
1g.209626018A>CCA344590019LAMB3c.1606T>G (p.Cys536Gly)
c.1414T>G (p.Cys472Gly)
1g.209626018A>GCA1375518LAMB3c.1606T>C (p.Cys536Arg)
c.1414T>C (p.Cys472Arg)
 dbSNP ExAC gnomAD v4
1g.209626018A>TCA344590020LAMB3c.1606T>A (p.Cys536Ser)
c.1414T>A (p.Cys472Ser)
1g.209626019G>ACA1375519LAMB3c.1605C>T (p.Asp535=)
c.1413C>T (p.Asp471=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209626019G>CCA344590022LAMB3c.1605C>G (p.Asp535Glu)
c.1413C>G (p.Asp471Glu)
1g.209626019G=CA2484299322LAMB3c.1605C= (p.Asp535=)
c.1413C= (p.Asp471=)
1g.209626019G>TCA344590021LAMB3c.1605C>A (p.Asp535Glu)
c.1413C>A (p.Asp471Glu)
1g.209626020T>ACA36756494LAMB3c.1604A>T (p.Asp535Val)
c.1412A>T (p.Asp471Val)
 dbSNP
1g.209626020T>CCA344590023LAMB3c.1604A>G (p.Asp535Gly)
c.1412A>G (p.Asp471Gly)
1g.209626020T>GCA344590024LAMB3c.1604A>C (p.Asp535Ala)
c.1412A>C (p.Asp471Ala)
1g.209626020T=CA2484299323LAMB3c.1604A= (p.Asp535=)
c.1412A= (p.Asp471=)
1g.209626021C>ACA344590025LAMB3c.1603G>T (p.Asp535Tyr)
c.1411G>T (p.Asp471Tyr)
 gnomAD v4
1g.209626021C=CA1141823277LAMB3c.1603G= (p.Asp535=)
c.1411G= (p.Asp471=)
1g.209626021C>GCA344590026LAMB3c.1603G>C (p.Asp535His)
c.1411G>C (p.Asp471His)
1g.209626021C>TCA1375520LAMB3c.1603G>A (p.Asp535Asn)
c.1411G>A (p.Asp471Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209626022A>CCA344590027LAMB3c.1602T>G (p.Cys534Trp)
c.1410T>G (p.Cys470Trp)
1g.209626022A>GCA423142787LAMB3c.1602T>C (p.Cys534=)
c.1410T>C (p.Cys470=)
 gnomAD v4
1g.209626022A>TCA344590028LAMB3c.1602T>A (p.Cys534Ter)
c.1410T>A (p.Cys470Ter)
1g.209626023C>ACA344590029LAMB3c.1601G>T (p.Cys534Phe)
c.1409G>T (p.Cys470Phe)
 gnomAD v4
1g.209626023C=CA1149106385LAMB3c.1601G= (p.Cys534=)
c.1409G= (p.Cys470=)
1g.209626023C>GCA1375521LAMB3c.1601G>C (p.Cys534Ser)
c.1409G>C (p.Cys470Ser)
 dbSNP ExAC gnomAD v2
1g.209626023C>TCA344590030LAMB3c.1601G>A (p.Cys534Tyr)
c.1409G>A (p.Cys470Tyr)
 COSMIC
1g.209626024A>CCA344590033LAMB3c.1600T>G (p.Cys534Gly)
c.1408T>G (p.Cys470Gly)
1g.209626024A>GCA344590032LAMB3c.1600T>C (p.Cys534Arg)
c.1408T>C (p.Cys470Arg)
 gnomAD v4
1g.209626024A>TCA344590031LAMB3c.1600T>A (p.Cys534Ser)
c.1408T>A (p.Cys470Ser)
1g.209626025G>ACA423142788LAMB3c.1599C>T (p.Ala533=)
c.1407C>T (p.Ala469=)
 ClinVar dbSNP
1g.209626025G>CCA423142789LAMB3c.1599C>G (p.Ala533=)
c.1407C>G (p.Ala469=)
1g.209626025G>TCA423142790LAMB3c.1599C>A (p.Ala533=)
c.1407C>A (p.Ala469=)
 gnomAD v4
1g.209626026G>ACA344590034LAMB3c.1598C>T (p.Ala533Val)
c.1406C>T (p.Ala469Val)
1g.209626026G>CCA344590035LAMB3c.1598C>G (p.Ala533Gly)
c.1406C>G (p.Ala469Gly)
1g.209626026G>TCA344590036LAMB3c.1598C>A (p.Ala533Asp)
c.1406C>A (p.Ala469Asp)
 gnomAD v4
1g.209626027C>ACA344590037LAMB3c.1598-1G>T (n.1598-1G>T)
c.1406-1G>T (n.1406-1G>T)
 ClinVar gnomAD v4
1g.209626027C>GCA344590038LAMB3c.1598-1G>C (n.1598-1G>C)
c.1406-1G>C (n.1406-1G>C)
1g.209626027C>TCA344590039LAMB3c.1598-1G>A (n.1598-1G>A)
c.1406-1G>A (n.1406-1G>A)
1g.209626028T>ACA344590040LAMB3c.1598-2A>T (n.1598-2A>T)
c.1406-2A>T (n.1406-2A>T)
1g.209626028T>CCA344590041LAMB3c.1598-2A>G (n.1598-2A>G)
c.1406-2A>G (n.1406-2A>G)
 gnomAD v4
1g.209626028T>GCA344590042LAMB3c.1598-2A>C (n.1598-2A>C)
c.1406-2A>C (n.1406-2A>C)
1g.209626029A=CA2484299324LAMB3c.1598-3T= (n.1598-3T=)
c.1406-3T= (n.1406-3T=)
1g.209626029A>GCA529000143LAMB3c.1598-3T>C (n.1598-3T>C)
c.1406-3T>C (n.1406-3T>C)
 dbSNP gnomAD v2 gnomAD v4
1g.209626029_209626030delinsAGCA2484299325LAMB3c.1598-4_1598-3delinsCT (n.1598-4_1598-3delinsCT)
c.1406-4_1406-3delinsCT (n.1406-4_1406-3delinsCT)
1g.209626030G>ACA2499214423LAMB3c.1598-4C>T (n.1598-4C>T)
c.1406-4C>T (n.1406-4C>T)
 ClinVar dbSNP
1g.209626032delCA2484299326LAMB3c.1598-4del (n.1598-4del)
c.1406-4del (n.1406-4del)
 dbSNP
1g.209626031G>ACA1375522LAMB3c.1598-5C>T (n.1598-5C>T)
c.1406-5C>T (n.1406-5C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.209626031G=CA2484299327LAMB3c.1598-5C= (n.1598-5C=)
c.1406-5C= (n.1406-5C=)
1g.209626032G>ACA2547838577LAMB3c.1598-6C>T (n.1598-6C>T)
c.1406-6C>T (n.1406-6C>T)
 ClinVar
1g.209626033C>ACA2650321933LAMB3c.1598-7G>T (n.1598-7G>T)
c.1406-7G>T (n.1406-7G>T)
 gnomAD v4
1g.209626033C>TCA2650321932LAMB3c.1598-7G>A (n.1598-7G>A)
c.1406-7G>A (n.1406-7G>A)
 gnomAD v4
1g.209626037G>CCA2650321934LAMB3c.1598-11C>G (n.1598-11C>G)
c.1406-11C>G (n.1406-11C>G)
 gnomAD v4
1g.209626038A>GCA2650321936LAMB3c.1598-12T>C (n.1598-12T>C)
c.1406-12T>C (n.1406-12T>C)
 ClinVar gnomAD v4
1g.209626042delCA2650321935LAMB3c.1598-12del (n.1598-12del)
c.1406-12del (n.1406-12del)
 gnomAD v4
1g.209626040A=CA1143755651LAMB3c.1598-14T= (n.1598-14T=)
c.1406-14T= (n.1406-14T=)
1g.209626040A>CCA1375523LAMB3c.1598-14T>G (n.1598-14T>G)
c.1406-14T>G (n.1406-14T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209626042A=CA2484299328LAMB3c.1598-16T= (n.1598-16T=)
c.1406-16T= (n.1406-16T=)
1g.209626042A>TCA2484299329LAMB3c.1598-16T>A (n.1598-16T>A)
c.1406-16T>A (n.1406-16T>A)
 dbSNP
1g.209626044G>ACA1375524LAMB3c.1598-18C>T (n.1598-18C>T)
c.1406-18C>T (n.1406-18C>T)
 dbSNP ExAC gnomAD v2
1g.209626044G=CA2484299330LAMB3c.1598-18C= (n.1598-18C=)
c.1406-18C= (n.1406-18C=)

Number of alleles fetched