Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.209625793_209625801delCA2747564043LAMB3c.1823_1831del (p.Ser608_Ser611delinsThr)
c.1631_1639del (p.Ser544_Ser547delinsThr)
1g.209625796_209625810delinsACAGGCTGGCGGTGGCA2484299235LAMB3c.1814_1828delinsCCACCGCCAGCCTGT (p.Ala605=)
c.1622_1636delinsCCACCGCCAGCCTGT (p.Ala541=)
1g.209625799_209625812delCA1011767307LAMB3c.1814_1827del (p.Ala605ValfsTer21)
c.1622_1635del (p.Ala541ValfsTer21)
 ClinVar dbSNP gnomAD v3 gnomAD v4
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)
1g.209625803G>ACA1375453LAMB3c.1821C>T (p.Ala607=)
c.1629C>T (p.Ala543=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209625803G>CCA423142649LAMB3c.1821C>G (p.Ala607=)
c.1629C>G (p.Ala543=)
1g.209625803G=CA2484299239LAMB3c.1821C= (p.Ala607=)
c.1629C= (p.Ala543=)
1g.209625803G>TCA423142648LAMB3c.1821C>A (p.Ala607=)
c.1629C>A (p.Ala543=)
 gnomAD v4
1g.209625805_209625807delCA2747564044LAMB3c.1819_1821del (p.Ala607del)
c.1627_1629del (p.Ala543del)
1g.209625804G>ACA344589328LAMB3c.1820C>T (p.Ala607Val)
c.1628C>T (p.Ala543Val)
1g.209625804G>CCA344589329LAMB3c.1820C>G (p.Ala607Gly)
c.1628C>G (p.Ala543Gly)
 gnomAD v4
1g.209625804G>TCA344589330LAMB3c.1820C>A (p.Ala607Asp)
c.1628C>A (p.Ala543Asp)
1g.209625805C>ACA344589332LAMB3c.1819G>T (p.Ala607Ser)
c.1627G>T (p.Ala543Ser)
1g.209625805C=CA1142372613LAMB3c.1819G= (p.Ala607=)
c.1627G= (p.Ala543=)
1g.209625805C>GCA344589331LAMB3c.1819G>C (p.Ala607Pro)
c.1627G>C (p.Ala543Pro)
1g.209625805C>TCA1375454LAMB3c.1819G>A (p.Ala607Thr)
c.1627G>A (p.Ala543Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209625806G>ACA1375455LAMB3c.1818C>T (p.Thr606=)
c.1626C>T (p.Thr542=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209625806G>CCA423142650LAMB3c.1818C>G (p.Thr606=)
c.1626C>G (p.Thr542=)
1g.209625806G=CA2484299240LAMB3c.1818C= (p.Thr606=)
c.1626C= (p.Thr542=)
1g.209625806G>TCA423142651LAMB3c.1818C>A (p.Thr606=)
c.1626C>A (p.Thr542=)
1g.209625807G>ACA344589333LAMB3c.1817C>T (p.Thr606Ile)
c.1625C>T (p.Thr542Ile)
1g.209625807G>CCA344589334LAMB3c.1817C>G (p.Thr606Ser)
c.1625C>G (p.Thr542Ser)
1g.209625807G>TCA344589335LAMB3c.1817C>A (p.Thr606Asn)
c.1625C>A (p.Thr542Asn)
1g.209625808T>ACA344589336LAMB3c.1816A>T (p.Thr606Ser)
c.1624A>T (p.Thr542Ser)
1g.209625808T>CCA344589337LAMB3c.1816A>G (p.Thr606Ala)
c.1624A>G (p.Thr542Ala)
1g.209625808T>GCA344589338LAMB3c.1816A>C (p.Thr606Pro)
c.1624A>C (p.Thr542Pro)
1g.209625809G>ACA423142652LAMB3c.1815C>T (p.Ala605=)
c.1623C>T (p.Ala541=)
 gnomAD v4
1g.209625809G>CCA423142653LAMB3c.1815C>G (p.Ala605=)
c.1623C>G (p.Ala541=)
1g.209625809G>TCA423142654LAMB3c.1815C>A (p.Ala605=)
c.1623C>A (p.Ala541=)
1g.209625809_209625832delCA2747564045LAMB3c.1792_1815del (p.Arg598_Ala605del)
c.1600_1623del (p.Arg534_Ala541del)
1g.209625810G>ACA344589339LAMB3c.1814C>T (p.Ala605Val)
c.1622C>T (p.Ala541Val)
1g.209625810G>CCA344589340LAMB3c.1814C>G (p.Ala605Gly)
c.1622C>G (p.Ala541Gly)
1g.209625810G>TCA344589341LAMB3c.1814C>A (p.Ala605Asp)
c.1622C>A (p.Ala541Asp)
 gnomAD v4
1g.209625811C>ACA344589342LAMB3c.1813G>T (p.Ala605Ser)
c.1621G>T (p.Ala541Ser)
1g.209625811C>GCA344589343LAMB3c.1813G>C (p.Ala605Pro)
c.1621G>C (p.Ala541Pro)
1g.209625811C>TCA344589344LAMB3c.1813G>A (p.Ala605Thr)
c.1621G>A (p.Ala541Thr)
1g.209625812A>CCA344589346LAMB3c.1812T>G (p.Asn604Lys)
c.1620T>G (p.Asn540Lys)
1g.209625812A>GCA423142655LAMB3c.1812T>C (p.Asn604=)
c.1620T>C (p.Asn540=)
1g.209625812A>TCA344589345LAMB3c.1812T>A (p.Asn604Lys)
c.1620T>A (p.Asn540Lys)
1g.209625813T>ACA344589347LAMB3c.1811A>T (p.Asn604Ile)
c.1619A>T (p.Asn540Ile)
1g.209625813T>CCA344589349LAMB3c.1811A>G (p.Asn604Ser)
c.1619A>G (p.Asn540Ser)
 dbSNP gnomAD v4
1g.209625813T>GCA344589348LAMB3c.1811A>C (p.Asn604Thr)
c.1619A>C (p.Asn540Thr)
1g.209625813T=CA2484299241LAMB3c.1811A= (p.Asn604=)
c.1619A= (p.Asn540=)
1g.209625814T>ACA344589350LAMB3c.1810A>T (p.Asn604Tyr)
c.1618A>T (p.Asn540Tyr)
1g.209625814T>CCA344589351LAMB3c.1810A>G (p.Asn604Asp)
c.1618A>G (p.Asn540Asp)
1g.209625814T>GCA344589352LAMB3c.1810A>C (p.Asn604His)
c.1618A>C (p.Asn540His)
1g.209625815G>ACA423142656LAMB3c.1809C>T (p.Arg603=)
c.1617C>T (p.Arg539=)
 dbSNP
1g.209625815G>CCA423142657LAMB3c.1809C>G (p.Arg603=)
c.1617C>G (p.Arg539=)
1g.209625815G=CA2484299242LAMB3c.1809C= (p.Arg603=)
c.1617C= (p.Arg539=)
1g.209625815G>TCA423142658LAMB3c.1809C>A (p.Arg603=)
c.1617C>A (p.Arg539=)
1g.209625816C>ACA1375456LAMB3c.1808G>T (p.Arg603Leu)
c.1616G>T (p.Arg539Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209625816C=CA1141416399LAMB3c.1808G= (p.Arg603=)
c.1616G= (p.Arg539=)
1g.209625816C>GCA344589353LAMB3c.1808G>C (p.Arg603Pro)
c.1616G>C (p.Arg539Pro)
1g.209625816C>TCA1375457LAMB3c.1808G>A (p.Arg603His)
c.1616G>A (p.Arg539His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209625817G>ACA1375458LAMB3c.1807C>T (p.Arg603Cys)
c.1615C>T (p.Arg539Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209625817G>CCA344589354LAMB3c.1807C>G (p.Arg603Gly)
c.1615C>G (p.Arg539Gly)
1g.209625817G=CA1143981188LAMB3c.1807C= (p.Arg603=)
c.1615C= (p.Arg539=)
1g.209625817G>TCA344589355LAMB3c.1807C>A (p.Arg603Ser)
c.1615C>A (p.Arg539Ser)
1g.209625818G>ACA423142659LAMB3c.1806C>T (p.Leu602=)
c.1614C>T (p.Leu538=)
 ClinVar COSMIC
1g.209625818G>CCA423142660LAMB3c.1806C>G (p.Leu602=)
c.1614C>G (p.Leu538=)
1g.209625818G=CA2484299243LAMB3c.1806C= (p.Leu602=)
c.1614C= (p.Leu538=)
1g.209625818G>TCA423142661LAMB3c.1806C>A (p.Leu602=)
c.1614C>A (p.Leu538=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.209625819A>CCA344589356LAMB3c.1805T>G (p.Leu602Arg)
c.1613T>G (p.Leu538Arg)
1g.209625819A>GCA344589357LAMB3c.1805T>C (p.Leu602Pro)
c.1613T>C (p.Leu538Pro)
 gnomAD v4
1g.209625819A>TCA344589358LAMB3c.1805T>A (p.Leu602His)
c.1613T>A (p.Leu538His)
1g.209625820G>ACA344589361LAMB3c.1804C>T (p.Leu602Phe)
c.1612C>T (p.Leu538Phe)
1g.209625820G>CCA344589360LAMB3c.1804C>G (p.Leu602Val)
c.1612C>G (p.Leu538Val)
1g.209625820G>TCA344589359LAMB3c.1804C>A (p.Leu602Ile)
c.1612C>A (p.Leu538Ile)
1g.209625821T>ACA344589362LAMB3c.1803A>T (p.Arg601Ser)
c.1611A>T (p.Arg537Ser)
1g.209625821T>CCA423142662LAMB3c.1803A>G (p.Arg601=)
c.1611A>G (p.Arg537=)
 ClinVar dbSNP gnomAD v4
1g.209625821T>GCA344589363LAMB3c.1803A>C (p.Arg601Ser)
c.1611A>C (p.Arg537Ser)
1g.209625822delCA2586964554LAMB3c.1802del (p.Arg601AsnfsTer25)
c.1610del (p.Arg537AsnfsTer25)
1g.209625822C>ACA344589364LAMB3c.1802G>T (p.Arg601Ile)
c.1610G>T (p.Arg537Ile)
1g.209625822C>GCA344589365LAMB3c.1802G>C (p.Arg601Thr)
c.1610G>C (p.Arg537Thr)
1g.209625822C>TCA344589366LAMB3c.1802G>A (p.Arg601Lys)
c.1610G>A (p.Arg537Lys)
1g.209625823T>ACA344589367LAMB3c.1801A>T (p.Arg601Ter)
c.1609A>T (p.Arg537Ter)
1g.209625823T>CCA344589368LAMB3c.1801A>G (p.Arg601Gly)
c.1609A>G (p.Arg537Gly)
1g.209625823T>GCA423142663LAMB3c.1801A>C (p.Arg601=)
c.1609A>C (p.Arg537=)
1g.209625824A>CCA423142664LAMB3c.1800T>G (p.Gly600=)
c.1608T>G (p.Gly536=)
1g.209625824A>GCA423142665LAMB3c.1800T>C (p.Gly600=)
c.1608T>C (p.Gly536=)
1g.209625824A>TCA423142666LAMB3c.1800T>A (p.Gly600=)
c.1608T>A (p.Gly536=)
1g.209625825C>ACA344589369LAMB3c.1799G>T (p.Gly600Val)
c.1607G>T (p.Gly536Val)
1g.209625825C=CA2484299244LAMB3c.1799G= (p.Gly600=)
c.1607G= (p.Gly536=)
1g.209625825C>GCA344589370LAMB3c.1799G>C (p.Gly600Ala)
c.1607G>C (p.Gly536Ala)
1g.209625825C>TCA344589371LAMB3c.1799G>A (p.Gly600Asp)
c.1607G>A (p.Gly536Asp)
 dbSNP
1g.209625826C>ACA344589372LAMB3c.1798G>T (p.Gly600Cys)
c.1606G>T (p.Gly536Cys)
1g.209625826C=CA2484299245LAMB3c.1798G= (p.Gly600=)
c.1606G= (p.Gly536=)
1g.209625826C>GCA344589373LAMB3c.1798G>C (p.Gly600Arg)
c.1606G>C (p.Gly536Arg)
1g.209625826C>TCA344589374LAMB3c.1798G>A (p.Gly600Ser)
c.1606G>A (p.Gly536Ser)
1g.209625827A>CCA344589375LAMB3c.1797T>G (p.Phe599Leu)
c.1605T>G (p.Phe535Leu)
1g.209625827A>GCA423142667LAMB3c.1797T>C (p.Phe599=)
c.1605T>C (p.Phe535=)
1g.209625827A>TCA344589376LAMB3c.1797T>A (p.Phe599Leu)
c.1605T>A (p.Phe535Leu)
1g.209625827_209625829delinsAAACA1140590616LAMB3c.1795_1797delinsTTT (p.Phe599=)
c.1603_1605delinsTTT (p.Phe535=)
1g.209625829dupCA36756319LAMB3c.1797dup (p.Gly600TrpfsTer2)
c.1605dup (p.Gly536TrpfsTer2)
 dbSNP
1g.209625828A>CCA344589377LAMB3c.1796T>G (p.Phe599Cys)
c.1604T>G (p.Phe535Cys)
1g.209625828A>GCA344589378LAMB3c.1796T>C (p.Phe599Ser)
c.1604T>C (p.Phe535Ser)
1g.209625828A>TCA344589379LAMB3c.1796T>A (p.Phe599Tyr)
c.1604T>A (p.Phe535Tyr)
1g.209625829A=CA1149131863LAMB3c.1795T= (p.Phe599=)
c.1603T= (p.Phe535=)
1g.209625829A>CCA344589380LAMB3c.1795T>G (p.Phe599Val)
c.1603T>G (p.Phe535Val)
 dbSNP gnomAD v2 gnomAD v4
1g.209625829A>GCA1375459LAMB3c.1795T>C (p.Phe599Leu)
c.1603T>C (p.Phe535Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209625829A>TCA344589381LAMB3c.1795T>A (p.Phe599Ile)
c.1603T>A (p.Phe535Ile)
1g.209625829_209625830insCACACCCACA2747564046LAMB3c.1795_1796insGGGTGTGT (p.Phe599TrpfsTer30)
c.1603_1604insGGGTGTGT (p.Phe535TrpfsTer30)
1g.209625830G>ACA1375460LAMB3c.1794C>T (p.Arg598=)
c.1602C>T (p.Arg534=)
 ClinVar dbSNP ExAC gnomAD v2
1g.209625830G>CCA423142668LAMB3c.1794C>G (p.Arg598=)
c.1602C>G (p.Arg534=)
1g.209625830G=CA1144207122LAMB3c.1794C= (p.Arg598=)
c.1602C= (p.Arg534=)
1g.209625830G>TCA423142669LAMB3c.1794C>A (p.Arg598=)
c.1602C>A (p.Arg534=)
1g.209625831C>ACA344589382LAMB3c.1793G>T (p.Arg598Leu)
c.1601G>T (p.Arg534Leu)
1g.209625831C=CA1141687432LAMB3c.1793G= (p.Arg598=)
c.1601G= (p.Arg534=)
1g.209625831C>GCA344589383LAMB3c.1793G>C (p.Arg598Pro)
c.1601G>C (p.Arg534Pro)
 gnomAD v4
1g.209625831C>TCA1375461LAMB3c.1793G>A (p.Arg598His)
c.1601G>A (p.Arg534His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209625831dupCA2484299246LAMB3c.1793dup (p.Phe599LeufsTer3)
c.1601dup (p.Phe535LeufsTer3)
 dbSNP
1g.209625831_209625832insACA2697554870LAMB3c.1792_1793insT (p.Arg598LeufsTer4)
c.1600_1601insT (p.Arg534LeufsTer4)
 ClinVar
1g.209625832G>ACA248955LAMB3c.1792C>T (p.Arg598Cys)
c.1600C>T (p.Arg534Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209625832G>CCA344589384LAMB3c.1792C>G (p.Arg598Gly)
c.1600C>G (p.Arg534Gly)
1g.209625832G=CA1141687433LAMB3c.1792C= (p.Arg598=)
c.1600C= (p.Arg534=)
1g.209625832G>TCA344589385LAMB3c.1792C>A (p.Arg598Ser)
c.1600C>A (p.Arg534Ser)
 gnomAD v4
1g.209625833C>ACA423142672LAMB3c.1791G>T (p.Leu597=)
c.1599G>T (p.Leu533=)
1g.209625833C=CA2484299247LAMB3c.1791G= (p.Leu597=)
c.1599G= (p.Leu533=)
1g.209625833C>GCA423142671LAMB3c.1791G>C (p.Leu597=)
c.1599G>C (p.Leu533=)
1g.209625833C>TCA423142670LAMB3c.1791G>A (p.Leu597=)
c.1599G>A (p.Leu533=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.209625834A>CCA344589387LAMB3c.1790T>G (p.Leu597Arg)
c.1598T>G (p.Leu533Arg)
1g.209625834A>GCA344589388LAMB3c.1790T>C (p.Leu597Pro)
c.1598T>C (p.Leu533Pro)
1g.209625834A>TCA344589386LAMB3c.1790T>A (p.Leu597Gln)
c.1598T>A (p.Leu533Gln)
 COSMIC
1g.209625835G>ACA423142673LAMB3c.1789C>T (p.Leu597=)
c.1597C>T (p.Leu533=)
 dbSNP
1g.209625835G>CCA344589389LAMB3c.1789C>G (p.Leu597Val)
c.1597C>G (p.Leu533Val)
1g.209625835G=CA2484299248LAMB3c.1789C= (p.Leu597=)
c.1597C= (p.Leu533=)
1g.209625835G>TCA344589390LAMB3c.1789C>A (p.Leu597Met)
c.1597C>A (p.Leu533Met)
 dbSNP gnomAD v2 gnomAD v4
1g.209625836G>ACA423142674LAMB3c.1788C>T (p.Ala596=)
c.1596C>T (p.Ala532=)
 gnomAD v4
1g.209625836G>CCA423142675LAMB3c.1788C>G (p.Ala596=)
c.1596C>G (p.Ala532=)
1g.209625836G>TCA423142676LAMB3c.1788C>A (p.Ala596=)
c.1596C>A (p.Ala532=)
1g.209625837G>ACA1375462LAMB3c.1787C>T (p.Ala596Val)
c.1595C>T (p.Ala532Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209625837G>CCA344589391LAMB3c.1787C>G (p.Ala596Gly)
c.1595C>G (p.Ala532Gly)
1g.209625837G=CA1143760869LAMB3c.1787C= (p.Ala596=)
c.1595C= (p.Ala532=)
1g.209625837G>TCA344589392LAMB3c.1787C>A (p.Ala596Asp)
c.1595C>A (p.Ala532Asp)
1g.209625838C>ACA1375463LAMB3c.1786G>T (p.Ala596Ser)
c.1594G>T (p.Ala532Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209625838C=CA1143967328LAMB3c.1786G= (p.Ala596=)
c.1594G= (p.Ala532=)
1g.209625838C>GCA344589393LAMB3c.1786G>C (p.Ala596Pro)
c.1594G>C (p.Ala532Pro)
 gnomAD v4
1g.209625838C>TCA1375464LAMB3c.1786G>A (p.Ala596Thr)
c.1594G>A (p.Ala532Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209625839C>ACA344589394LAMB3c.1785G>T (p.Gln595His)
c.1593G>T (p.Gln531His)
1g.209625839C=CA2484299249LAMB3c.1785G= (p.Gln595=)
c.1593G= (p.Gln531=)
1g.209625839C>GCA344589395LAMB3c.1785G>C (p.Gln595His)
c.1593G>C (p.Gln531His)
1g.209625839C>TCA423142677LAMB3c.1785G>A (p.Gln595=)
c.1593G>A (p.Gln531=)
 ClinVar dbSNP
1g.209625840T>ACA344589396LAMB3c.1784A>T (p.Gln595Leu)
c.1592A>T (p.Gln531Leu)
1g.209625840T>CCA344589397LAMB3c.1784A>G (p.Gln595Arg)
c.1592A>G (p.Gln531Arg)
1g.209625840T>GCA344589398LAMB3c.1784A>C (p.Gln595Pro)
c.1592A>C (p.Gln531Pro)
 gnomAD v4
1g.209625841G>ACA344589399LAMB3c.1783C>T (p.Gln595Ter)
c.1591C>T (p.Gln531Ter)
 ClinVar dbSNP
1g.209625841G>CCA344589401LAMB3c.1783C>G (p.Gln595Glu)
c.1591C>G (p.Gln531Glu)
1g.209625841G=CA2484299250LAMB3c.1783C= (p.Gln595=)
c.1591C= (p.Gln531=)
1g.209625841G>TCA344589400LAMB3c.1783C>A (p.Gln595Lys)
c.1591C>A (p.Gln531Lys)
1g.209625841_209625842insGGCA2747564047LAMB3c.1783_1784insCC (p.Gln595ProfsTer?)
c.1591_1592insCC (p.Gln531ProfsTer?)
1g.209625842C>ACA344589402LAMB3c.1782G>T (p.Glu594Asp)
c.1590G>T (p.Glu530Asp)
1g.209625842C=CA2484299251LAMB3c.1782G= (p.Glu594=)
c.1590G= (p.Glu530=)
1g.209625842C>GCA1375465LAMB3c.1782G>C (p.Glu594Asp)
c.1590G>C (p.Glu530Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209625842C>TCA423142678LAMB3c.1782G>A (p.Glu594=)
c.1590G>A (p.Glu530=)
 ClinVar dbSNP gnomAD v4
1g.209625843T>ACA344589403LAMB3c.1781A>T (p.Glu594Val)
c.1589A>T (p.Glu530Val)
1g.209625843T>CCA344589404LAMB3c.1781A>G (p.Glu594Gly)
c.1589A>G (p.Glu530Gly)
1g.209625843T>GCA344589405LAMB3c.1781A>C (p.Glu594Ala)
c.1589A>C (p.Glu530Ala)
1g.209625844C>ACA344589406LAMB3c.1780G>T (p.Glu594Ter)
c.1588G>T (p.Glu530Ter)
1g.209625844C>GCA344589407LAMB3c.1780G>C (p.Glu594Gln)
c.1588G>C (p.Glu530Gln)
1g.209625844C>TCA344589408LAMB3c.1780G>A (p.Glu594Lys)
c.1588G>A (p.Glu530Lys)
 gnomAD v4
1g.209625844_209625846delCA2747564048LAMB3c.1778_1780del (p.Arg593_Glu594delinsGln)
c.1586_1588del (p.Arg529_Glu530delinsGln)
1g.209625845C>ACA423142679LAMB3c.1779G>T (p.Arg593=)
c.1587G>T (p.Arg529=)
1g.209625845C=CA2484299252LAMB3c.1779G= (p.Arg593=)
c.1587G= (p.Arg529=)
1g.209625845C>GCA423142680LAMB3c.1779G>C (p.Arg593=)
c.1587G>C (p.Arg529=)
1g.209625845C>TCA423142681LAMB3c.1779G>A (p.Arg593=)
c.1587G>A (p.Arg529=)
 ClinVar dbSNP gnomAD v4
1g.209625846C>ACA344589409LAMB3c.1778G>T (p.Arg593Leu)
c.1586G>T (p.Arg529Leu)
 gnomAD v4 COSMIC
1g.209625846C=CA1145713575LAMB3c.1778G= (p.Arg593=)
c.1586G= (p.Arg529=)
1g.209625846C>GCA344589410LAMB3c.1778G>C (p.Arg593Pro)
c.1586G>C (p.Arg529Pro)
1g.209625846C>TCA1375466LAMB3c.1778G>A (p.Arg593Gln)
c.1586G>A (p.Arg529Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209625847G>ACA1375467LAMB3c.1777C>T (p.Arg593Trp)
c.1585C>T (p.Arg529Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209625847G>CCA344589411LAMB3c.1777C>G (p.Arg593Gly)
c.1585C>G (p.Arg529Gly)
 dbSNP gnomAD v2 gnomAD v4
1g.209625847G=CA1142129111LAMB3c.1777C= (p.Arg593=)
c.1585C= (p.Arg529=)
1g.209625847G>TCA423142682LAMB3c.1777C>A (p.Arg593=)
c.1585C>A (p.Arg529=)
 dbSNP gnomAD v2 gnomAD v4
1g.209625848G>ACA423142683LAMB3c.1776C>T (p.Leu592=)
c.1584C>T (p.Leu528=)
1g.209625848G>CCA423142684LAMB3c.1776C>G (p.Leu592=)
c.1584C>G (p.Leu528=)
 dbSNP
1g.209625848G=CA2484299253LAMB3c.1776C= (p.Leu592=)
c.1584C= (p.Leu528=)
1g.209625848G>TCA423142685LAMB3c.1776C>A (p.Leu592=)
c.1584C>A (p.Leu528=)
1g.209625849A=CA2484299254LAMB3c.1775T= (p.Leu592=)
c.1583T= (p.Leu528=)
1g.209625849A>CCA344589412LAMB3c.1775T>G (p.Leu592Arg)
c.1583T>G (p.Leu528Arg)
1g.209625849A>GCA344589413LAMB3c.1775T>C (p.Leu592Pro)
c.1583T>C (p.Leu528Pro)
 dbSNP gnomAD v3 gnomAD v4
1g.209625849A>TCA344589414LAMB3c.1775T>A (p.Leu592His)
c.1583T>A (p.Leu528His)
1g.209625850G>ACA344589415LAMB3c.1774C>T (p.Leu592Phe)
c.1582C>T (p.Leu528Phe)
1g.209625850G>CCA344589417LAMB3c.1774C>G (p.Leu592Val)
c.1582C>G (p.Leu528Val)
1g.209625850G=CA2484299255LAMB3c.1774C= (p.Leu592=)
c.1582C= (p.Leu528=)
1g.209625850G>TCA344589416LAMB3c.1774C>A (p.Leu592Ile)
c.1582C>A (p.Leu528Ile)
 dbSNP
1g.209625851G>ACA423142686LAMB3c.1773C>T (p.Asp591=)
c.1581C>T (p.Asp527=)
 dbSNP gnomAD v4
1g.209625851G>CCA344589418LAMB3c.1773C>G (p.Asp591Glu)
c.1581C>G (p.Asp527Glu)
1g.209625851G=CA2484299256LAMB3c.1773C= (p.Asp591=)
c.1581C= (p.Asp527=)
1g.209625851G>TCA344589419LAMB3c.1773C>A (p.Asp591Glu)
c.1581C>A (p.Asp527Glu)
 gnomAD v4
1g.209625852T>ACA344589420LAMB3c.1772A>T (p.Asp591Val)
c.1580A>T (p.Asp527Val)
1g.209625852T>CCA344589421LAMB3c.1772A>G (p.Asp591Gly)
c.1580A>G (p.Asp527Gly)
1g.209625852T>GCA344589422LAMB3c.1772A>C (p.Asp591Ala)
c.1580A>C (p.Asp527Ala)
1g.209625853C>ACA344589424LAMB3c.1771G>T (p.Asp591Tyr)
c.1579G>T (p.Asp527Tyr)
 dbSNP gnomAD v3 gnomAD v4
1g.209625853C=CA2484299257LAMB3c.1771G= (p.Asp591=)
c.1579G= (p.Asp527=)
1g.209625853C>GCA344589425LAMB3c.1771G>C (p.Asp591His)
c.1579G>C (p.Asp527His)
1g.209625853C>TCA344589426LAMB3c.1771G>A (p.Asp591Asn)
c.1579G>A (p.Asp527Asn)
 dbSNP
1g.209625854C>ACA423142687LAMB3c.1770G>T (p.Ala590=)
c.1578G>T (p.Ala526=)
1g.209625854C=CA1141939592LAMB3c.1770G= (p.Ala590=)
c.1578G= (p.Ala526=)
1g.209625854C>GCA423142688LAMB3c.1770G>C (p.Ala590=)
c.1578G>C (p.Ala526=)
1g.209625854C>TCA1375468LAMB3c.1770G>A (p.Ala590=)
c.1578G>A (p.Ala526=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209625855G>ACA1375469LAMB3c.1769C>T (p.Ala590Val)
c.1577C>T (p.Ala526Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209625855G>CCA344589428LAMB3c.1769C>G (p.Ala590Gly)
c.1577C>G (p.Ala526Gly)
1g.209625855G=CA1141925505LAMB3c.1769C= (p.Ala590=)
c.1577C= (p.Ala526=)
1g.209625855G>TCA344589430LAMB3c.1769C>A (p.Ala590Glu)
c.1577C>A (p.Ala526Glu)
 gnomAD v4
1g.209625856C>ACA344589432LAMB3c.1768G>T (p.Ala590Ser)
c.1576G>T (p.Ala526Ser)
 COSMIC
1g.209625856C=CA2484299258LAMB3c.1768G= (p.Ala590=)
c.1576G= (p.Ala526=)
1g.209625856C>GCA344589436LAMB3c.1768G>C (p.Ala590Pro)
c.1576G>C (p.Ala526Pro)
1g.209625856C>TCA344589434LAMB3c.1768G>A (p.Ala590Thr)
c.1576G>A (p.Ala526Thr)
 dbSNP gnomAD v4
1g.209625857A=CA2484299259LAMB3c.1767T= (p.Asp589=)
c.1575T= (p.Asp525=)
1g.209625857A>CCA344589438LAMB3c.1767T>G (p.Asp589Glu)
c.1575T>G (p.Asp525Glu)
 gnomAD v4
1g.209625857A>GCA1375470LAMB3c.1767T>C (p.Asp589=)
c.1575T>C (p.Asp525=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209625857A>TCA344589441LAMB3c.1767T>A (p.Asp589Glu)
c.1575T>A (p.Asp525Glu)
1g.209625858T>ACA344589444LAMB3c.1766A>T (p.Asp589Val)
c.1574A>T (p.Asp525Val)
1g.209625858T>CCA344589445LAMB3c.1766A>G (p.Asp589Gly)
c.1574A>G (p.Asp525Gly)
1g.209625858T>GCA344589447LAMB3c.1766A>C (p.Asp589Ala)
c.1574A>C (p.Asp525Ala)
1g.209625859C>ACA344589449LAMB3c.1765G>T (p.Asp589Tyr)
c.1573G>T (p.Asp525Tyr)
 dbSNP gnomAD v3 gnomAD v4
1g.209625859C=CA2484299260LAMB3c.1765G= (p.Asp589=)
c.1573G= (p.Asp525=)
1g.209625859C>GCA344589451LAMB3c.1765G>C (p.Asp589His)
c.1573G>C (p.Asp525His)
1g.209625859C>TCA344589453LAMB3c.1765G>A (p.Asp589Asn)
c.1573G>A (p.Asp525Asn)
 COSMIC
1g.209625860A=CA1139922146LAMB3c.1764T= (p.Tyr588=)
c.1572T= (p.Tyr524=)
1g.209625860A>CCA344589455LAMB3c.1764T>G (p.Tyr588Ter)
c.1572T>G (p.Tyr524Ter)
1g.209625860A>GCA1375471LAMB3c.1764T>C (p.Tyr588=)
c.1572T>C (p.Tyr524=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209625860A>TCA344589466LAMB3c.1764T>A (p.Tyr588Ter)
c.1572T>A (p.Tyr524Ter)
1g.209625861T>ACA344589471LAMB3c.1763A>T (p.Tyr588Phe)
c.1571A>T (p.Tyr524Phe)
1g.209625861T>CCA1375472LAMB3c.1763A>G (p.Tyr588Cys)
c.1571A>G (p.Tyr524Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209625861T>GCA344589469LAMB3c.1763A>C (p.Tyr588Ser)
c.1571A>C (p.Tyr524Ser)
1g.209625861T=CA2484299261LAMB3c.1763A= (p.Tyr588=)
c.1571A= (p.Tyr524=)
1g.209625862A>CCA344589475LAMB3c.1762T>G (p.Tyr588Asp)
c.1570T>G (p.Tyr524Asp)
 gnomAD v4
1g.209625862A>GCA344589476LAMB3c.1762T>C (p.Tyr588His)
c.1570T>C (p.Tyr524His)
 COSMIC
1g.209625862A>TCA344589478LAMB3c.1762T>A (p.Tyr588Asn)
c.1570T>A (p.Tyr524Asn)
1g.209625863G>ACA423142689LAMB3c.1761C>T (p.Thr587=)
c.1569C>T (p.Thr523=)
 gnomAD v3 gnomAD v4
1g.209625863G>CCA423142690LAMB3c.1761C>G (p.Thr587=)
c.1569C>G (p.Thr523=)
1g.209625863G=CA1142775047LAMB3c.1761C= (p.Thr587=)
c.1569C= (p.Thr523=)
1g.209625863G>TCA1375473LAMB3c.1761C>A (p.Thr587=)
c.1569C>A (p.Thr523=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209625864delCA2586964555LAMB3c.1761del (p.Tyr588MetfsTer?)
c.1569del (p.Tyr524MetfsTer?)
1g.209625864G>ACA344589486LAMB3c.1760C>T (p.Thr587Ile)
c.1568C>T (p.Thr523Ile)
1g.209625864G>CCA344589484LAMB3c.1760C>G (p.Thr587Ser)
c.1568C>G (p.Thr523Ser)
1g.209625864G>TCA344589481LAMB3c.1760C>A (p.Thr587Asn)
c.1568C>A (p.Thr523Asn)
1g.209625865T>ACA344589489LAMB3c.1759A>T (p.Thr587Ser)
c.1567A>T (p.Thr523Ser)
 gnomAD v4
1g.209625865T>CCA344589491LAMB3c.1759A>G (p.Thr587Ala)
c.1567A>G (p.Thr523Ala)
1g.209625865T>GCA344589493LAMB3c.1759A>C (p.Thr587Pro)
c.1567A>C (p.Thr523Pro)
1g.209625866C>ACA344589495LAMB3c.1758G>T (p.Gln586His)
c.1566G>T (p.Gln522His)
1g.209625866C=CA2484299262LAMB3c.1758G= (p.Gln586=)
c.1566G= (p.Gln522=)
1g.209625866C>GCA344589496LAMB3c.1758G>C (p.Gln586His)
c.1566G>C (p.Gln522His)
1g.209625866C>TCA1375474LAMB3c.1758G>A (p.Gln586=)
c.1566G>A (p.Gln522=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.209625867T>ACA344589500LAMB3c.1757A>T (p.Gln586Leu)
c.1565A>T (p.Gln522Leu)
1g.209625867T>CCA344589503LAMB3c.1757A>G (p.Gln586Arg)
c.1565A>G (p.Gln522Arg)
 dbSNP gnomAD v3 gnomAD v4
1g.209625867T>GCA344589502LAMB3c.1757A>C (p.Gln586Pro)
c.1565A>C (p.Gln522Pro)
1g.209625867T=CA2484299263LAMB3c.1757A= (p.Gln586=)
c.1565A= (p.Gln522=)
1g.209625868G>ACA1375475LAMB3c.1756C>T (p.Gln586Ter)
c.1564C>T (p.Gln522Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.209625868G>CCA344589507LAMB3c.1756C>G (p.Gln586Glu)
c.1564C>G (p.Gln522Glu)
1g.209625868G=CA1149147611LAMB3c.1756C= (p.Gln586=)
c.1564C= (p.Gln522=)
1g.209625868G>TCA344589508LAMB3c.1756C>A (p.Gln586Lys)
c.1564C>A (p.Gln522Lys)
 dbSNP gnomAD v3 gnomAD v4
1g.209625869G>ACA423142691LAMB3c.1755C>T (p.Phe585=)
c.1563C>T (p.Phe521=)
1g.209625869G>CCA344589510LAMB3c.1755C>G (p.Phe585Leu)
c.1563C>G (p.Phe521Leu)
 dbSNP
1g.209625869G=CA2484299264LAMB3c.1755C= (p.Phe585=)
c.1563C= (p.Phe521=)
1g.209625869G>TCA344589512LAMB3c.1755C>A (p.Phe585Leu)
c.1563C>A (p.Phe521Leu)
1g.209625870A>CCA344589514LAMB3c.1754T>G (p.Phe585Cys)
c.1562T>G (p.Phe521Cys)
1g.209625870A>GCA344589516LAMB3c.1754T>C (p.Phe585Ser)
c.1562T>C (p.Phe521Ser)
1g.209625870A>TCA344589518LAMB3c.1754T>A (p.Phe585Tyr)
c.1562T>A (p.Phe521Tyr)
1g.209625871A=CA2484299265LAMB3c.1753T= (p.Phe585=)
c.1561T= (p.Phe521=)
1g.209625871A>CCA344589520LAMB3c.1753T>G (p.Phe585Val)
c.1561T>G (p.Phe521Val)
1g.209625871A>GCA1375476LAMB3c.1753T>C (p.Phe585Leu)
c.1561T>C (p.Phe521Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209625871A>TCA344589523LAMB3c.1753T>A (p.Phe585Ile)
c.1561T>A (p.Phe521Ile)
1g.209625872G>ACA423142692LAMB3c.1752C>T (p.Cys584=)
c.1560C>T (p.Cys520=)
1g.209625872G>CCA344589525LAMB3c.1752C>G (p.Cys584Trp)
c.1560C>G (p.Cys520Trp)
1g.209625872G>TCA344589527LAMB3c.1752C>A (p.Cys584Ter)
c.1560C>A (p.Cys520Ter)
1g.209625873C>ACA344589533LAMB3c.1751G>T (p.Cys584Phe)
c.1559G>T (p.Cys520Phe)
1g.209625873C>GCA344589531LAMB3c.1751G>C (p.Cys584Ser)
c.1559G>C (p.Cys520Ser)
1g.209625873C>TCA344589529LAMB3c.1751G>A (p.Cys584Tyr)
c.1559G>A (p.Cys520Tyr)
1g.209625874A>CCA344589536LAMB3c.1750T>G (p.Cys584Gly)
c.1558T>G (p.Cys520Gly)
1g.209625874A>GCA344589538LAMB3c.1750T>C (p.Cys584Arg)
c.1558T>C (p.Cys520Arg)
1g.209625874A>TCA344589540LAMB3c.1750T>A (p.Cys584Ser)
c.1558T>A (p.Cys520Ser)
1g.209625875A>CCA423142693LAMB3c.1749T>G (p.Pro583=)
c.1557T>G (p.Pro519=)
1g.209625875A>GCA423142694LAMB3c.1749T>C (p.Pro583=)
c.1557T>C (p.Pro519=)
1g.209625875A>TCA423142695LAMB3c.1749T>A (p.Pro583=)
c.1557T>A (p.Pro519=)
1g.209625876G>ACA344589543LAMB3c.1748C>T (p.Pro583Leu)
c.1556C>T (p.Pro519Leu)
 dbSNP COSMIC
1g.209625876G>CCA344589544LAMB3c.1748C>G (p.Pro583Arg)
c.1556C>G (p.Pro519Arg)
1g.209625876G=CA2484299266LAMB3c.1748C= (p.Pro583=)
c.1556C= (p.Pro519=)
1g.209625876G>TCA344589546LAMB3c.1748C>A (p.Pro583His)
c.1556C>A (p.Pro519His)
 ClinVar dbSNP
1g.209625877G>ACA344589548LAMB3c.1747C>T (p.Pro583Ser)
c.1555C>T (p.Pro519Ser)
1g.209625877G>CCA344589549LAMB3c.1747C>G (p.Pro583Ala)
c.1555C>G (p.Pro519Ala)
1g.209625877G>TCA344589552LAMB3c.1747C>A (p.Pro583Thr)
c.1555C>A (p.Pro519Thr)
1g.209625878G>ACA423142696LAMB3c.1746C>T (p.His582=)
c.1554C>T (p.His518=)
1g.209625878G>CCA344589555LAMB3c.1746C>G (p.His582Gln)
c.1554C>G (p.His518Gln)
1g.209625878G>TCA344589557LAMB3c.1746C>A (p.His582Gln)
c.1554C>A (p.His518Gln)
1g.209625879T>ACA344589559LAMB3c.1745A>T (p.His582Leu)
c.1553A>T (p.His518Leu)
1g.209625879T>CCA344589561LAMB3c.1745A>G (p.His582Arg)
c.1553A>G (p.His518Arg)
1g.209625879T>GCA344589564LAMB3c.1745A>C (p.His582Pro)
c.1553A>C (p.His518Pro)
1g.209625880G>ACA344589569LAMB3c.1744C>T (p.His582Tyr)
c.1552C>T (p.His518Tyr)
1g.209625880G>CCA344589571LAMB3c.1744C>G (p.His582Asp)
c.1552C>G (p.His518Asp)
1g.209625880G>TCA344589566LAMB3c.1744C>A (p.His582Asn)
c.1552C>A (p.His518Asn)
1g.209625881G>ACA423142697LAMB3c.1743C>T (p.Cys581=)
c.1551C>T (p.Cys517=)
 dbSNP gnomAD v2 gnomAD v4
1g.209625881G>CCA344589572LAMB3c.1743C>G (p.Cys581Trp)
c.1551C>G (p.Cys517Trp)
 dbSNP gnomAD v2 gnomAD v4
1g.209625881G=CA2484299267LAMB3c.1743C= (p.Cys581=)
c.1551C= (p.Cys517=)
1g.209625881G>TCA344589573LAMB3c.1743C>A (p.Cys581Ter)
c.1551C>A (p.Cys517Ter)
 dbSNP gnomAD v2 COSMIC
1g.209625882C>ACA344589574LAMB3c.1742G>T (p.Cys581Phe)
c.1550G>T (p.Cys517Phe)
1g.209625882C>GCA344589575LAMB3c.1742G>C (p.Cys581Ser)
c.1550G>C (p.Cys517Ser)
1g.209625882C>TCA344589577LAMB3c.1742G>A (p.Cys581Tyr)
c.1550G>A (p.Cys517Tyr)
 gnomAD v4
1g.209625883A>CCA344589580LAMB3c.1741T>G (p.Cys581Gly)
c.1549T>G (p.Cys517Gly)
 gnomAD v4
1g.209625883A>GCA344589582LAMB3c.1741T>C (p.Cys581Arg)
c.1549T>C (p.Cys517Arg)
1g.209625883A>TCA344589584LAMB3c.1741T>A (p.Cys581Ser)
c.1549T>A (p.Cys517Ser)
1g.209625884G>ACA423142698LAMB3c.1740C>T (p.Ala580=)
c.1548C>T (p.Ala516=)
 dbSNP gnomAD v2 gnomAD v4
1g.209625884G>CCA423142699LAMB3c.1740C>G (p.Ala580=)
c.1548C>G (p.Ala516=)
1g.209625884G=CA2484299268LAMB3c.1740C= (p.Ala580=)
c.1548C= (p.Ala516=)
1g.209625884G>TCA423142700LAMB3c.1740C>A (p.Ala580=)
c.1548C>A (p.Ala516=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.209625885G>ACA344589586LAMB3c.1739C>T (p.Ala580Val)
c.1547C>T (p.Ala516Val)
1g.209625885G>CCA344589587LAMB3c.1739C>G (p.Ala580Gly)
c.1547C>G (p.Ala516Gly)
1g.209625885G>TCA344589588LAMB3c.1739C>A (p.Ala580Asp)
c.1547C>A (p.Ala516Asp)
1g.209625886C>ACA344589595LAMB3c.1738G>T (p.Ala580Ser)
c.1546G>T (p.Ala516Ser)
1g.209625886C>GCA344589593LAMB3c.1738G>C (p.Ala580Pro)
c.1546G>C (p.Ala516Pro)
1g.209625886C>TCA344589591LAMB3c.1738G>A (p.Ala580Thr)
c.1546G>A (p.Ala516Thr)
 gnomAD v4
1g.209625887C>ACA423142703LAMB3c.1737G>T (p.Val579=)
c.1545G>T (p.Val515=)
1g.209625887C>GCA423142701LAMB3c.1737G>C (p.Val579=)
c.1545G>C (p.Val515=)
1g.209625887C>TCA423142702LAMB3c.1737G>A (p.Val579=)
c.1545G>A (p.Val515=)
 gnomAD v4
1g.209625888A>CCA344589597LAMB3c.1736T>G (p.Val579Gly)
c.1544T>G (p.Val515Gly)
1g.209625888A>GCA344589598LAMB3c.1736T>C (p.Val579Ala)
c.1544T>C (p.Val515Ala)
1g.209625888A>TCA344589600LAMB3c.1736T>A (p.Val579Glu)
c.1544T>A (p.Val515Glu)
1g.209625889C>ACA344589602LAMB3c.1735G>T (p.Val579Leu)
c.1543G>T (p.Val515Leu)
 dbSNP gnomAD v2 gnomAD v4
1g.209625889C=CA2484299269LAMB3c.1735G= (p.Val579=)
c.1543G= (p.Val515=)
1g.209625889C>GCA344589604LAMB3c.1735G>C (p.Val579Leu)
c.1543G>C (p.Val515Leu)
1g.209625889C>TCA1375477LAMB3c.1735G>A (p.Val579Met)
c.1543G>A (p.Val515Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209625889_209625890insACACCCCCAAACACACCCACA2747564049LAMB3c.1734_1735insTGGGTGTGTTTGGGGGTGT (p.Val579TrpfsTer17)
c.1542_1543insTGGGTGTGTTTGGGGGTGT (p.Val515TrpfsTer17)
1g.209625890G>ACA1375478LAMB3c.1734C>T (p.Cys578=)
c.1542C>T (p.Cys514=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.209625890G>CCA344589607LAMB3c.1734C>G (p.Cys578Trp)
c.1542C>G (p.Cys514Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209625890G=CA1141634982LAMB3c.1734C= (p.Cys578=)
c.1542C= (p.Cys514=)
1g.209625890G>TCA344589609LAMB3c.1734C>A (p.Cys578Ter)
c.1542C>A (p.Cys514Ter)
1g.209625891C>ACA344589610LAMB3c.1733G>T (p.Cys578Phe)
c.1541G>T (p.Cys514Phe)
1g.209625891C>GCA344589612LAMB3c.1733G>C (p.Cys578Ser)
c.1541G>C (p.Cys514Ser)
1g.209625891C>TCA344589614LAMB3c.1733G>A (p.Cys578Tyr)
c.1541G>A (p.Cys514Tyr)
1g.209625891_209625892insCTCA2650321827LAMB3c.1732_1733insAG (p.Cys578Ter)
c.1540_1541insAG (p.Cys514Ter)
 gnomAD v4
1g.209625892A>CCA344589616LAMB3c.1732T>G (p.Cys578Gly)
c.1540T>G (p.Cys514Gly)
1g.209625892A>GCA344589620LAMB3c.1732T>C (p.Cys578Arg)
c.1540T>C (p.Cys514Arg)
1g.209625892A>TCA344589618LAMB3c.1732T>A (p.Cys578Ser)
c.1540T>A (p.Cys514Ser)
1g.209625893C>ACA423142704LAMB3c.1731G>T (p.Val577=)
c.1539G>T (p.Val513=)
1g.209625893C>GCA423142705LAMB3c.1731G>C (p.Val577=)
c.1539G>C (p.Val513=)
1g.209625893C>TCA423142706LAMB3c.1731G>A (p.Val577=)
c.1539G>A (p.Val513=)
 ClinVar
1g.209625894A>CCA344589621LAMB3c.1730T>G (p.Val577Gly)
c.1538T>G (p.Val513Gly)
1g.209625894A>GCA344589626LAMB3c.1730T>C (p.Val577Ala)
c.1538T>C (p.Val513Ala)
1g.209625894A>TCA344589624LAMB3c.1730T>A (p.Val577Glu)
c.1538T>A (p.Val513Glu)
1g.209625895C>ACA344589627LAMB3c.1729G>T (p.Val577Leu)
c.1537G>T (p.Val513Leu)
 gnomAD v4
1g.209625895C>GCA344589629LAMB3c.1729G>C (p.Val577Leu)
c.1537G>C (p.Val513Leu)
1g.209625895C>TCA344589628LAMB3c.1729G>A (p.Val577Met)
c.1537G>A (p.Val513Met)
 gnomAD v4
1g.209625896C>ACA423142707LAMB3c.1728G>T (p.Pro576=)
c.1536G>T (p.Pro512=)
 COSMIC
1g.209625896C=CA2484299270LAMB3c.1728G= (p.Pro576=)
c.1536G= (p.Pro512=)
1g.209625896C>GCA423142708LAMB3c.1728G>C (p.Pro576=)
c.1536G>C (p.Pro512=)
1g.209625896C>TCA1375479LAMB3c.1728G>A (p.Pro576=)
c.1536G>A (p.Pro512=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209625897G>ACA1375480LAMB3c.1727C>T (p.Pro576Leu)
c.1535C>T (p.Pro512Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209625897G>CCA1375481LAMB3c.1727C>G (p.Pro576Arg)
c.1535C>G (p.Pro512Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209625897G=CA1143524069LAMB3c.1727C= (p.Pro576=)
c.1535C= (p.Pro512=)
1g.209625897G>TCA344589631LAMB3c.1727C>A (p.Pro576Gln)
c.1535C>A (p.Pro512Gln)
 gnomAD v4
1g.209625898G>ACA36756400LAMB3c.1726C>T (p.Pro576Ser)
c.1534C>T (p.Pro512Ser)
 dbSNP
1g.209625898G>CCA344589634LAMB3c.1726C>G (p.Pro576Ala)
c.1534C>G (p.Pro512Ala)
1g.209625898G=CA2484299271LAMB3c.1726C= (p.Pro576=)
c.1534C= (p.Pro512=)
1g.209625898G>TCA344589635LAMB3c.1726C>A (p.Pro576Thr)
c.1534C>A (p.Pro512Thr)
1g.209625899G>ACA423142709LAMB3c.1725C>T (p.Tyr575=)
c.1533C>T (p.Tyr511=)
 gnomAD v4
1g.209625899G>CCA344589637LAMB3c.1725C>G (p.Tyr575Ter)
c.1533C>G (p.Tyr511Ter)
1g.209625899G>TCA344589639LAMB3c.1725C>A (p.Tyr575Ter)
c.1533C>A (p.Tyr511Ter)
1g.209625900T>ACA344589641LAMB3c.1724A>T (p.Tyr575Phe)
c.1532A>T (p.Tyr511Phe)
1g.209625900T>CCA344589643LAMB3c.1724A>G (p.Tyr575Cys)
c.1532A>G (p.Tyr511Cys)
 dbSNP
1g.209625900T>GCA344589645LAMB3c.1724A>C (p.Tyr575Ser)
c.1532A>C (p.Tyr511Ser)
1g.209625900T=CA2484299272LAMB3c.1724A= (p.Tyr575=)
c.1532A= (p.Tyr511=)
1g.209625901A>CCA344589651LAMB3c.1723T>G (p.Tyr575Asp)
c.1531T>G (p.Tyr511Asp)
1g.209625901A>GCA344589647LAMB3c.1723T>C (p.Tyr575His)
c.1531T>C (p.Tyr511His)
1g.209625901A>TCA344589649LAMB3c.1723T>A (p.Tyr575Asn)
c.1531T>A (p.Tyr511Asn)

Number of alleles fetched