Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.209618555G>ACA257280LAMB3c.2806C>T (p.Gln936Ter)
c.13C>T (p.Gln5Ter)
c.2614C>T (p.Gln872Ter)
 ClinVar dbSNP
1g.209618555G>CCA344585156LAMB3c.2806C>G (p.Gln936Glu)
c.13C>G (p.Gln5Glu)
c.2614C>G (p.Gln872Glu)
1g.209618555G=CA1141581351LAMB3c.2806C= (p.Gln936=)
c.13C= (p.Gln5=)
c.2614C= (p.Gln872=)
1g.209618555G>TCA344585155LAMB3c.2806C>A (p.Gln936Lys)
c.13C>A (p.Gln5Lys)
c.2614C>A (p.Gln872Lys)
 dbSNP gnomAD v3 gnomAD v4
1g.209618556G>ACA423030085LAMB3c.2805C>T (p.Ile935=)
c.12C>T (p.Ile4=)
c.2613C>T (p.Ile871=)
 gnomAD v4
1g.209618556G>CCA344585157LAMB3c.2805C>G (p.Ile935Met)
c.12C>G (p.Ile4Met)
c.2613C>G (p.Ile871Met)
1g.209618556G>TCA423030087LAMB3c.2805C>A (p.Ile935=)
c.12C>A (p.Ile4=)
c.2613C>A (p.Ile871=)
1g.209618557A>CCA344585160LAMB3c.2804T>G (p.Ile935Ser)
c.11T>G (p.Ile4Ser)
c.2612T>G (p.Ile871Ser)
 gnomAD v4
1g.209618557A>GCA344585158LAMB3c.2804T>C (p.Ile935Thr)
c.11T>C (p.Ile4Thr)
c.2612T>C (p.Ile871Thr)
1g.209618557A>TCA344585159LAMB3c.2804T>A (p.Ile935Asn)
c.11T>A (p.Ile4Asn)
c.2612T>A (p.Ile871Asn)
1g.209618558T>ACA36750224LAMB3c.2803A>T (p.Ile935Phe)
c.10A>T (p.Ile4Phe)
c.2611A>T (p.Ile871Phe)
 dbSNP gnomAD v3 gnomAD v4
1g.209618558T>CCA344585161LAMB3c.2803A>G (p.Ile935Val)
c.10A>G (p.Ile4Val)
c.2611A>G (p.Ile871Val)
1g.209618558T>GCA344585162LAMB3c.2803A>C (p.Ile935Leu)
c.10A>C (p.Ile4Leu)
c.2611A>C (p.Ile871Leu)
1g.209618558T=CA2484296290LAMB3c.2803A= (p.Ile935=)
c.10A= (p.Ile4=)
c.2611A= (p.Ile871=)
1g.209618558dupCA2840705964LAMB3c.2803dup (p.Ile935AsnfsTer?)
c.10dup (p.Ile4AsnfsTer?)
c.2611dup (p.Ile871AsnfsTer?)
1g.209618559C>ACA1375091LAMB3c.2802G>T (p.Glu934Asp)
c.9G>T (p.Glu3Asp)
c.2610G>T (p.Glu870Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209618559C=CA2484296291LAMB3c.2802G= (p.Glu934=)
c.9G= (p.Glu3=)
c.2610G= (p.Glu870=)
1g.209618559C>GCA344585163LAMB3c.2802G>C (p.Glu934Asp)
c.9G>C (p.Glu3Asp)
c.2610G>C (p.Glu870Asp)
1g.209618559C>TCA1375092LAMB3c.2802G>A (p.Glu934=)
c.9G>A (p.Glu3=)
c.2610G>A (p.Glu870=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.209618560T>ACA344585164LAMB3c.2801A>T (p.Glu934Val)
c.8A>T (p.Glu3Val)
c.2609A>T (p.Glu870Val)
 dbSNP
1g.209618560T>CCA344585165LAMB3c.2801A>G (p.Glu934Gly)
c.8A>G (p.Glu3Gly)
c.2609A>G (p.Glu870Gly)
1g.209618560T>GCA1375093LAMB3c.2801A>C (p.Glu934Ala)
c.8A>C (p.Glu3Ala)
c.2609A>C (p.Glu870Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209618560T=CA2484296292LAMB3c.2801A= (p.Glu934=)
c.8A= (p.Glu3=)
c.2609A= (p.Glu870=)
1g.209618561delCA2580061993LAMB3c.2800del (p.Glu934ArgfsTer?)
c.7del (p.Glu3ArgfsTer?)
c.2608del (p.Glu870ArgfsTer?)
 ClinVar
1g.209618561C>ACA344585168LAMB3c.2800G>T (p.Glu934Ter)
c.7G>T (p.Glu3Ter)
c.2608G>T (p.Glu870Ter)
1g.209618561C>GCA344585166LAMB3c.2800G>C (p.Glu934Gln)
c.7G>C (p.Glu3Gln)
c.2608G>C (p.Glu870Gln)
1g.209618561C>TCA344585167LAMB3c.2800G>A (p.Glu934Lys)
c.7G>A (p.Glu3Lys)
c.2608G>A (p.Glu870Lys)
 gnomAD v4
1g.209618562A=CA2484296293LAMB3c.2799T= (p.Asn933=)
c.6T= (p.Asn2=)
c.2607T= (p.Asn869=)
1g.209618562A>CCA344585169LAMB3c.2799T>G (p.Asn933Lys)
c.6T>G (p.Asn2Lys)
c.2607T>G (p.Asn869Lys)
 gnomAD v4
1g.209618562A>GCA423030094LAMB3c.2799T>C (p.Asn933=)
c.6T>C (p.Asn2=)
c.2607T>C (p.Asn869=)
 ClinVar dbSNP
1g.209618562A>TCA344585170LAMB3c.2799T>A (p.Asn933Lys)
c.6T>A (p.Asn2Lys)
c.2607T>A (p.Asn869Lys)
1g.209618563T>ACA344585171LAMB3c.2798A>T (p.Asn933Ile)
c.5A>T (p.Asn2Ile)
c.2606A>T (p.Asn869Ile)
 gnomAD v4
1g.209618563T>CCA344585172LAMB3c.2798A>G (p.Asn933Ser)
c.5A>G (p.Asn2Ser)
c.2606A>G (p.Asn869Ser)
 dbSNP gnomAD v4
1g.209618563T>GCA344585173LAMB3c.2798A>C (p.Asn933Thr)
c.5A>C (p.Asn2Thr)
c.2606A>C (p.Asn869Thr)
1g.209618563T=CA2484296294LAMB3c.2798A= (p.Asn933=)
c.5A= (p.Asn2=)
c.2606A= (p.Asn869=)
1g.209618564T>ACA344585174LAMB3c.2797A>T (p.Asn933Tyr)
c.4A>T (p.Asn2Tyr)
c.2605A>T (p.Asn869Tyr)
1g.209618564T>CCA344585175LAMB3c.2797A>G (p.Asn933Asp)
c.4A>G (p.Asn2Asp)
c.2605A>G (p.Asn869Asp)
1g.209618564T>GCA344585176LAMB3c.2797A>C (p.Asn933His)
c.4A>C (p.Asn2His)
c.2605A>C (p.Asn869His)
1g.209618565C>ACA344585177LAMB3c.2796G>T (p.Met932Ile)
c.3G>T (p.Met1Ile)
c.2604G>T (p.Met868Ile)
1g.209618565C>GCA344585178LAMB3c.2796G>C (p.Met932Ile)
c.3G>C (p.Met1Ile)
c.2604G>C (p.Met868Ile)
1g.209618565C>TCA344585179LAMB3c.2796G>A (p.Met932Ile)
c.3G>A (p.Met1Ile)
c.2604G>A (p.Met868Ile)
 gnomAD v4
1g.209618566A=CA1141705368LAMB3c.2795T= (p.Met932=)
c.2T= (p.Met1=)
c.2603T= (p.Met868=)
1g.209618566A>CCA344585181LAMB3c.2795T>G (p.Met932Arg)
c.2T>G (p.Met1Arg)
c.2603T>G (p.Met868Arg)
1g.209618566A>GCA1375094LAMB3c.2795T>C (p.Met932Thr)
c.2T>C (p.Met1Thr)
c.2603T>C (p.Met868Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209618566A>TCA344585180LAMB3c.2795T>A (p.Met932Lys)
c.2T>A (p.Met1Lys)
c.2603T>A (p.Met868Lys)
1g.209618567T>ACA344585182LAMB3c.2794A>T (p.Met932Leu)
c.1A>T (p.Met1Leu)
c.2602A>T (p.Met868Leu)
1g.209618567T>CCA344585183LAMB3c.2794A>G (p.Met932Val)
c.1A>G (p.Met1Val)
c.2602A>G (p.Met868Val)
 dbSNP gnomAD v3 gnomAD v4
1g.209618567T>GCA344585184LAMB3c.2794A>C (p.Met932Leu)
c.1A>C (p.Met1Leu)
c.2602A>C (p.Met868Leu)
1g.209618567T=CA2484296295LAMB3c.2794A= (p.Met932=)
c.1A= (p.Met1=)
c.2602A= (p.Met868=)
1g.209618568C>ACA344585185LAMB3c.2793G>T (p.Lys931Asn)
c.-1G>T (n.-1G>T)
c.2601G>T (p.Lys867Asn)

Number of alleles fetched