Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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)
1g.209625832G>ACA248955LAMB3c.1792C>T (p.Arg598Cys)
c.1600C>T (p.Arg534Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched