Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.209617944C>ACA344584719LAMB3c.3014G>T (p.Ser1005Ile)
c.221G>T (p.Ser74Ile)
c.2822G>T (p.Ser941Ile)
1g.209617944C>GCA344584720LAMB3c.3014G>C (p.Ser1005Thr)
c.221G>C (p.Ser74Thr)
c.2822G>C (p.Ser941Thr)
1g.209617944C>TCA344584721LAMB3c.3014G>A (p.Ser1005Asn)
c.221G>A (p.Ser74Asn)
c.2822G>A (p.Ser941Asn)
1g.209617945T>ACA344584724LAMB3c.3013A>T (p.Ser1005Cys)
c.220A>T (p.Ser74Cys)
c.2821A>T (p.Ser941Cys)
1g.209617945T>CCA344584723LAMB3c.3013A>G (p.Ser1005Gly)
c.220A>G (p.Ser74Gly)
c.2821A>G (p.Ser941Gly)
1g.209617945T>GCA344584722LAMB3c.3013A>C (p.Ser1005Arg)
c.220A>C (p.Ser74Arg)
c.2821A>C (p.Ser941Arg)
1g.209617945T=CA2484296065LAMB3c.3013A= (p.Ser1005=)
c.220A= (p.Ser74=)
c.2821A= (p.Ser941=)
1g.209617946G>ACA423029719LAMB3c.3012C>T (p.Thr1004=)
c.219C>T (p.Thr73=)
c.2820C>T (p.Thr940=)
1g.209617946G>CCA423029720LAMB3c.3012C>G (p.Thr1004=)
c.219C>G (p.Thr73=)
c.2820C>G (p.Thr940=)
1g.209617946G>TCA423029721LAMB3c.3012C>A (p.Thr1004=)
c.219C>A (p.Thr73=)
c.2820C>A (p.Thr940=)
1g.209617947_209617948insGGGGCA2650320429LAMB3c.3012_3013insCCCC (p.Ser1005ProfsTer14)
c.219_220insCCCC (p.Ser74ProfsTer14)
c.2820_2821insCCCC (p.Ser941ProfsTer14)
 gnomAD v4
1g.209617947dupCA528652454LAMB3c.3012dup (p.Ser1005GlnfsTer13)
c.219dup (p.Ser74GlnfsTer13)
c.2820dup (p.Ser941GlnfsTer13)
 dbSNP gnomAD v2
1g.209617947G>ACA1375020LAMB3c.3011C>T (p.Thr1004Ile)
c.218C>T (p.Thr73Ile)
c.2819C>T (p.Thr940Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.209617947G>CCA1375021LAMB3c.3011C>G (p.Thr1004Ser)
c.218C>G (p.Thr73Ser)
c.2819C>G (p.Thr940Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209617947G=CA2484296066LAMB3c.3011C= (p.Thr1004=)
c.218C= (p.Thr73=)
c.2819C= (p.Thr940=)
1g.209617947G>TCA344584725LAMB3c.3011C>A (p.Thr1004Asn)
c.218C>A (p.Thr73Asn)
c.2819C>A (p.Thr940Asn)
 gnomAD v4
1g.209617948T>ACA344584726LAMB3c.3010A>T (p.Thr1004Ser)
c.217A>T (p.Thr73Ser)
c.2818A>T (p.Thr940Ser)
1g.209617948T>CCA344584727LAMB3c.3010A>G (p.Thr1004Ala)
c.217A>G (p.Thr73Ala)
c.2818A>G (p.Thr940Ala)
1g.209617948T>GCA1375022LAMB3c.3010A>C (p.Thr1004Pro)
c.217A>C (p.Thr73Pro)
c.2818A>C (p.Thr940Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209617948T=CA1143468512LAMB3c.3010A= (p.Thr1004=)
c.217A= (p.Thr73=)
c.2818A= (p.Thr940=)
1g.209617949G>ACA423029725LAMB3c.3009C>T (p.Gly1003=)
c.216C>T (p.Gly72=)
c.2817C>T (p.Gly939=)
1g.209617949G>CCA423029727LAMB3c.3009C>G (p.Gly1003=)
c.216C>G (p.Gly72=)
c.2817C>G (p.Gly939=)
1g.209617949G>TCA423029726LAMB3c.3009C>A (p.Gly1003=)
c.216C>A (p.Gly72=)
c.2817C>A (p.Gly939=)
1g.209617950C>ACA1375024LAMB3c.3008G>T (p.Gly1003Val)
c.215G>T (p.Gly72Val)
c.2816G>T (p.Gly939Val)
 dbSNP ExAC gnomAD v3 gnomAD v4
1g.209617950C=CA2484296067LAMB3c.3008G= (p.Gly1003=)
c.215G= (p.Gly72=)
c.2816G= (p.Gly939=)
1g.209617950C>GCA1375023LAMB3c.3008G>C (p.Gly1003Ala)
c.215G>C (p.Gly72Ala)
c.2816G>C (p.Gly939Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.209617950C>TCA344584730LAMB3c.3008G>A (p.Gly1003Asp)
c.215G>A (p.Gly72Asp)
c.2816G>A (p.Gly939Asp)
 dbSNP gnomAD v3 gnomAD v4
1g.209617951C>ACA344584731LAMB3c.3007G>T (p.Gly1003Cys)
c.214G>T (p.Gly72Cys)
c.2815G>T (p.Gly939Cys)
1g.209617951C=CA2484296068LAMB3c.3007G= (p.Gly1003=)
c.214G= (p.Gly72=)
c.2815G= (p.Gly939=)
1g.209617951C>GCA344584732LAMB3c.3007G>C (p.Gly1003Arg)
c.214G>C (p.Gly72Arg)
c.2815G>C (p.Gly939Arg)
1g.209617951C>TCA10609564LAMB3c.3007G>A (p.Gly1003Ser)
c.214G>A (p.Gly72Ser)
c.2815G>A (p.Gly939Ser)
 ClinVar dbSNP COSMIC
1g.209617952T>ACA344584734LAMB3c.3006A>T (p.Gln1002His)
c.213A>T (p.Gln71His)
c.2814A>T (p.Gln938His)
1g.209617952T>CCA423029729LAMB3c.3006A>G (p.Gln1002=)
c.213A>G (p.Gln71=)
c.2814A>G (p.Gln938=)
 ClinVar dbSNP
1g.209617952T>GCA344584733LAMB3c.3006A>C (p.Gln1002His)
c.213A>C (p.Gln71His)
c.2814A>C (p.Gln938His)
1g.209617952T=CA2484296069LAMB3c.3006A= (p.Gln1002=)
c.213A= (p.Gln71=)
c.2814A= (p.Gln938=)
1g.209617953T>ACA344584735LAMB3c.3005A>T (p.Gln1002Leu)
c.212A>T (p.Gln71Leu)
c.2813A>T (p.Gln938Leu)
 gnomAD v4
1g.209617953T>CCA344584736LAMB3c.3005A>G (p.Gln1002Arg)
c.212A>G (p.Gln71Arg)
c.2813A>G (p.Gln938Arg)
1g.209617953T>GCA344584737LAMB3c.3005A>C (p.Gln1002Pro)
c.212A>C (p.Gln71Pro)
c.2813A>C (p.Gln938Pro)
1g.209617954G>ACA344584738LAMB3c.3004C>T (p.Gln1002Ter)
c.211C>T (p.Gln71Ter)
c.2812C>T (p.Gln938Ter)
 dbSNP gnomAD v2 gnomAD v4
1g.209617954G>CCA344584739LAMB3c.3004C>G (p.Gln1002Glu)
c.211C>G (p.Gln71Glu)
c.2812C>G (p.Gln938Glu)
1g.209617954G=CA2484296070LAMB3c.3004C= (p.Gln1002=)
c.211C= (p.Gln71=)
c.2812C= (p.Gln938=)
1g.209617954G>TCA1375025LAMB3c.3004C>A (p.Gln1002Lys)
c.211C>A (p.Gln71Lys)
c.2812C>A (p.Gln938Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209617955C>ACA344584740LAMB3c.3003G>T (p.Met1001Ile)
c.210G>T (p.Met70Ile)
c.2811G>T (p.Met937Ile)
1g.209617955C=CA2484296071LAMB3c.3003G= (p.Met1001=)
c.210G= (p.Met70=)
c.2811G= (p.Met937=)
1g.209617955C>GCA344584741LAMB3c.3003G>C (p.Met1001Ile)
c.210G>C (p.Met70Ile)
c.2811G>C (p.Met937Ile)
1g.209617955C>TCA344584742LAMB3c.3003G>A (p.Met1001Ile)
c.210G>A (p.Met70Ile)
c.2811G>A (p.Met937Ile)
 dbSNP gnomAD v3 gnomAD v4
1g.209617956A=CA2484296072LAMB3c.3002T= (p.Met1001=)
c.209T= (p.Met70=)
c.2810T= (p.Met937=)
1g.209617956A>CCA1375026LAMB3c.3002T>G (p.Met1001Arg)
c.209T>G (p.Met70Arg)
c.2810T>G (p.Met937Arg)
 dbSNP ExAC
1g.209617956A>GCA344584743LAMB3c.3002T>C (p.Met1001Thr)
c.209T>C (p.Met70Thr)
c.2810T>C (p.Met937Thr)
 dbSNP gnomAD v4
1g.209617956A>TCA344584744LAMB3c.3002T>A (p.Met1001Lys)
c.209T>A (p.Met70Lys)
c.2810T>A (p.Met937Lys)

Number of alleles fetched