Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.209626826_209626843delCA2573999794LAMB3c.1597+26_1597+43del (n.1597+26_1597+43del)
c.1405+26_1405+43del (n.1405+26_1405+43del)
 gnomAD v4
1g.209626831delCA2650322150LAMB3c.1597+40del (n.1597+40del)
c.1405+40del (n.1405+40del)
 gnomAD v4
1g.209626829C>ACA2650322153LAMB3c.1597+38G>T (n.1597+38G>T)
c.1405+38G>T (n.1405+38G>T)
 gnomAD v4
1g.209626829C=CA2484299644LAMB3c.1597+38G= (n.1597+38G=)
c.1405+38G= (n.1405+38G=)
1g.209626829C>TCA528652710LAMB3c.1597+38G>A (n.1597+38G>A)
c.1405+38G>A (n.1405+38G>A)
 dbSNP gnomAD v2
1g.209626832A=CA2484299645LAMB3c.1597+35T= (n.1597+35T=)
c.1405+35T= (n.1405+35T=)
1g.209626832A>GCA1375532LAMB3c.1597+35T>C (n.1597+35T>C)
c.1405+35T>C (n.1405+35T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209626832A>TCA528652711LAMB3c.1597+35T>A (n.1597+35T>A)
c.1405+35T>A (n.1405+35T>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209626833G>TCA2573999944LAMB3c.1597+34C>A (n.1597+34C>A)
c.1405+34C>A (n.1405+34C>A)
1g.209626835G>ACA2650322154LAMB3c.1597+32C>T (n.1597+32C>T)
c.1405+32C>T (n.1405+32C>T)
 gnomAD v4
1g.209626835G>TCA2650322155LAMB3c.1597+32C>A (n.1597+32C>A)
c.1405+32C>A (n.1405+32C>A)
 gnomAD v4
1g.209626836C>ACA2513505123LAMB3c.1597+31G>T (n.1597+31G>T)
c.1405+31G>T (n.1405+31G>T)
 gnomAD v4
1g.209626836C=CA2484299646LAMB3c.1597+31G= (n.1597+31G=)
c.1405+31G= (n.1405+31G=)
1g.209626836C>GCA1011767508LAMB3c.1597+31G>C (n.1597+31G>C)
c.1405+31G>C (n.1405+31G>C)
 dbSNP gnomAD v3 gnomAD v4
1g.209626837C>TCA2650322156LAMB3c.1597+30G>A (n.1597+30G>A)
c.1405+30G>A (n.1405+30G>A)
 gnomAD v4
1g.209626840A=CA2484299647LAMB3c.1597+27T= (n.1597+27T=)
c.1405+27T= (n.1405+27T=)
1g.209626840A>GCA528652712LAMB3c.1597+27T>C (n.1597+27T>C)
c.1405+27T>C (n.1405+27T>C)
 dbSNP gnomAD v2 gnomAD v4
1g.209626841G>ACA1375533LAMB3c.1597+26C>T (n.1597+26C>T)
c.1405+26C>T (n.1405+26C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209626841G=CA2484299648LAMB3c.1597+26C= (n.1597+26C=)
c.1405+26C= (n.1405+26C=)
1g.209626841G>TCA2650322157LAMB3c.1597+26C>A (n.1597+26C>A)
c.1405+26C>A (n.1405+26C>A)
 gnomAD v4
1g.209626842C>ACA528652713LAMB3c.1597+25G>T (n.1597+25G>T)
c.1405+25G>T (n.1405+25G>T)
 dbSNP gnomAD v2 gnomAD v4
1g.209626842C=CA2484299649LAMB3c.1597+25G= (n.1597+25G=)
c.1405+25G= (n.1405+25G=)
1g.209626842C>TCA36756893LAMB3c.1597+25G>A (n.1597+25G>A)
c.1405+25G>A (n.1405+25G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209626843G>ACA1375534LAMB3c.1597+24C>T (n.1597+24C>T)
c.1405+24C>T (n.1405+24C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209626843G>CCA36756897LAMB3c.1597+24C>G (n.1597+24C>G)
c.1405+24C>G (n.1405+24C>G)
 dbSNP
1g.209626843G=CA1143368115LAMB3c.1597+24C= (n.1597+24C=)
c.1405+24C= (n.1405+24C=)
1g.209626843G>TCA2650322158LAMB3c.1597+24C>A (n.1597+24C>A)
c.1405+24C>A (n.1405+24C>A)
 gnomAD v4
1g.209626844T>CCA2650322159LAMB3c.1597+23A>G (n.1597+23A>G)
c.1405+23A>G (n.1405+23A>G)
 gnomAD v4
1g.209626844T>GCA2574000092LAMB3c.1597+23A>C (n.1597+23A>C)
c.1405+23A>C (n.1405+23A>C)
 gnomAD v4
1g.209626844_209626845delinsTCCA2484299650LAMB3c.1597+22_1597+23delinsGA (n.1597+22_1597+23delinsGA)
c.1405+22_1405+23delinsGA (n.1405+22_1405+23delinsGA)
1g.209626845C>ACA2484299652LAMB3c.1597+22G>T (n.1597+22G>T)
c.1405+22G>T (n.1405+22G>T)
 dbSNP gnomAD v4
1g.209626845C=CA2484299653LAMB3c.1597+22G= (n.1597+22G=)
c.1405+22G= (n.1405+22G=)
1g.209626845C>TCA2484299654LAMB3c.1597+22G>A (n.1597+22G>A)
c.1405+22G>A (n.1405+22G>A)
 dbSNP gnomAD v4
1g.209626849delCA2484299651LAMB3c.1597+22del (n.1597+22del)
c.1405+22del (n.1405+22del)
 dbSNP
1g.209626846C>ACA2536345682LAMB3c.1597+21G>T (n.1597+21G>T)
c.1405+21G>T (n.1405+21G>T)
1g.209626846C>TCA2650322160LAMB3c.1597+21G>A (n.1597+21G>A)
c.1405+21G>A (n.1405+21G>A)
 gnomAD v4
1g.209626847C>ACA2650322161LAMB3c.1597+20G>T (n.1597+20G>T)
c.1405+20G>T (n.1405+20G>T)
 gnomAD v4
1g.209626847C=CA2484299655LAMB3c.1597+20G= (n.1597+20G=)
c.1405+20G= (n.1405+20G=)
1g.209626847C>TCA2484299656LAMB3c.1597+20G>A (n.1597+20G>A)
c.1405+20G>A (n.1405+20G>A)
 dbSNP gnomAD v4
1g.209626850A>TCA2697554890LAMB3c.1597+17T>A (n.1597+17T>A)
c.1405+17T>A (n.1405+17T>A)
 ClinVar
1g.209626852G>ACA2650322162LAMB3c.1597+15C>T (n.1597+15C>T)
c.1405+15C>T (n.1405+15C>T)
 gnomAD v4
1g.209626852G>TCA2650322163LAMB3c.1597+15C>A (n.1597+15C>A)
c.1405+15C>A (n.1405+15C>A)
 gnomAD v4
1g.209626853C=CA2484299657LAMB3c.1597+14G= (n.1597+14G=)
c.1405+14G= (n.1405+14G=)
1g.209626853C>TCA1375535LAMB3c.1597+14G>A (n.1597+14G>A)
c.1405+14G>A (n.1405+14G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209626853_209626854delinsCTCA2484299658LAMB3c.1597+13_1597+14delinsAG (n.1597+13_1597+14delinsAG)
c.1405+13_1405+14delinsAG (n.1405+13_1405+14delinsAG)
1g.209626856delCA528652714LAMB3c.1597+13del (n.1597+13del)
c.1405+13del (n.1405+13del)
 dbSNP gnomAD v2 gnomAD v4
1g.209626856T>ACA2739275552LAMB3c.1597+11A>T (n.1597+11A>T)
c.1405+11A>T (n.1405+11A>T)
 ClinVar
1g.209626857G>CCA1375536LAMB3c.1597+10C>G (n.1597+10C>G)
c.1405+10C>G (n.1405+10C>G)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
1g.209626857G=CA1143474897LAMB3c.1597+10C= (n.1597+10C=)
c.1405+10C= (n.1405+10C=)
1g.209626857G>TCA2650322164LAMB3c.1597+10C>A (n.1597+10C>A)
c.1405+10C>A (n.1405+10C>A)
 gnomAD v4
1g.209626859G>TCA2650322165LAMB3c.1597+8C>A (n.1597+8C>A)
c.1405+8C>A (n.1405+8C>A)
 gnomAD v4
1g.209626860C=CA2484299659LAMB3c.1597+7G= (n.1597+7G=)
c.1405+7G= (n.1405+7G=)
1g.209626860C>TCA730829278LAMB3c.1597+7G>A (n.1597+7G>A)
c.1405+7G>A (n.1405+7G>A)
 dbSNP gnomAD v3 gnomAD v4
1g.209626861A=CA2484299660LAMB3c.1597+6T= (n.1597+6T=)
c.1405+6T= (n.1405+6T=)
1g.209626861A>GCA1375537LAMB3c.1597+6T>C (n.1597+6T>C)
c.1405+6T>C (n.1405+6T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209626862T>CCA2544921050LAMB3c.1597+5A>G (n.1597+5A>G)
c.1405+5A>G (n.1405+5A>G)
 gnomAD v4
1g.209626863G>ACA2650322166LAMB3c.1597+4C>T (n.1597+4C>T)
c.1405+4C>T (n.1405+4C>T)
 gnomAD v4
1g.209626863G>TCA2650322167LAMB3c.1597+4C>A (n.1597+4C>A)
c.1405+4C>A (n.1405+4C>A)
 gnomAD v4
1g.209626864C>ACA2484299662LAMB3c.1597+3G>T (n.1597+3G>T)
c.1405+3G>T (n.1405+3G>T)
 dbSNP gnomAD v4
1g.209626864C=CA2484299661LAMB3c.1597+3G= (n.1597+3G=)
c.1405+3G= (n.1405+3G=)
1g.209626864C>TCA2484299663LAMB3c.1597+3G>A (n.1597+3G>A)
c.1405+3G>A (n.1405+3G>A)
 dbSNP
1g.209626865A=CA2484299664LAMB3c.1597+2T= (n.1597+2T=)
c.1405+2T= (n.1405+2T=)
1g.209626865A>CCA344590043LAMB3c.1597+2T>G (n.1597+2T>G)
c.1405+2T>G (n.1405+2T>G)
 dbSNP
1g.209626865A>GCA344590044LAMB3c.1597+2T>C (n.1597+2T>C)
c.1405+2T>C (n.1405+2T>C)
1g.209626865A>TCA344590045LAMB3c.1597+2T>A (n.1597+2T>A)
c.1405+2T>A (n.1405+2T>A)
1g.209626866C>ACA344590046LAMB3c.1597+1G>T (n.1597+1G>T)
c.1405+1G>T (n.1405+1G>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.209626866C=CA2484299665LAMB3c.1597+1G= (n.1597+1G=)
c.1405+1G= (n.1405+1G=)
1g.209626866C>GCA344590047LAMB3c.1597+1G>C (n.1597+1G>C)
c.1405+1G>C (n.1405+1G>C)
1g.209626866C>TCA344590048LAMB3c.1597+1G>A (n.1597+1G>A)
c.1405+1G>A (n.1405+1G>A)
 ClinVar dbSNP
1g.209626867C>ACA344590049LAMB3c.1597G>T (p.Ala533Ser)
c.1405G>T (p.Ala469Ser)
1g.209626867C>GCA344590050LAMB3c.1597G>C (p.Ala533Pro)
c.1405G>C (p.Ala469Pro)
1g.209626867C>TCA344590051LAMB3c.1597G>A (p.Ala533Thr)
c.1405G>A (p.Ala469Thr)
1g.209626868T>ACA423031189LAMB3c.1596A>T (p.Arg532=)
c.1404A>T (p.Arg468=)
1g.209626868T>CCA423031188LAMB3c.1596A>G (p.Arg532=)
c.1404A>G (p.Arg468=)
1g.209626868T>GCA423031187LAMB3c.1596A>C (p.Arg532=)
c.1404A>C (p.Arg468=)
1g.209626869C>ACA344590053LAMB3c.1595G>T (p.Arg532Leu)
c.1403G>T (p.Arg468Leu)
 gnomAD v4
1g.209626869C=CA1149043432LAMB3c.1595G= (p.Arg532=)
c.1403G= (p.Arg468=)
1g.209626869C>GCA344590052LAMB3c.1595G>C (p.Arg532Pro)
c.1403G>C (p.Arg468Pro)
1g.209626869C>TCA1375538LAMB3c.1595G>A (p.Arg532Gln)
c.1403G>A (p.Arg468Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209626870G>ACA36756919LAMB3c.1594C>T (p.Arg532Ter)
c.1402C>T (p.Arg468Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.209626870G>CCA344590054LAMB3c.1594C>G (p.Arg532Gly)
c.1402C>G (p.Arg468Gly)
 gnomAD v4
1g.209626870G=CA2484299666LAMB3c.1594C= (p.Arg532=)
c.1402C= (p.Arg468=)
1g.209626870G>TCA423031191LAMB3c.1594C>A (p.Arg532=)
c.1402C>A (p.Arg468=)
 gnomAD v4
1g.209626871G>ACA423031192LAMB3c.1593C>T (p.Cys531=)
c.1401C>T (p.Cys467=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.209626871G>CCA344590055LAMB3c.1593C>G (p.Cys531Trp)
c.1401C>G (p.Cys467Trp)
1g.209626871G=CA2484299667LAMB3c.1593C= (p.Cys531=)
c.1401C= (p.Cys467=)
1g.209626871G>TCA344590056LAMB3c.1593C>A (p.Cys531Ter)
c.1401C>A (p.Cys467Ter)
 ClinVar gnomAD v4
1g.209626872C>ACA10608979LAMB3c.1592G>T (p.Cys531Phe)
c.1400G>T (p.Cys467Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209626872C=CA2484299668LAMB3c.1592G= (p.Cys531=)
c.1400G= (p.Cys467=)
1g.209626872C>GCA344590057LAMB3c.1592G>C (p.Cys531Ser)
c.1400G>C (p.Cys467Ser)
1g.209626872C>TCA344590058LAMB3c.1592G>A (p.Cys531Tyr)
c.1400G>A (p.Cys467Tyr)
1g.209626873A>CCA344590059LAMB3c.1591T>G (p.Cys531Gly)
c.1399T>G (p.Cys467Gly)
 gnomAD v4
1g.209626873A>GCA344590060LAMB3c.1591T>C (p.Cys531Arg)
c.1399T>C (p.Cys467Arg)
1g.209626873A>TCA344590061LAMB3c.1591T>A (p.Cys531Ser)
c.1399T>A (p.Cys467Ser)
1g.209626874T>ACA423031193LAMB3c.1590A>T (p.Gly530=)
c.1398A>T (p.Gly466=)
1g.209626874T>CCA423031195LAMB3c.1590A>G (p.Gly530=)
c.1398A>G (p.Gly466=)
1g.209626874T>GCA423031197LAMB3c.1590A>C (p.Gly530=)
c.1398A>C (p.Gly466=)
1g.209626875C>ACA344590062LAMB3c.1589G>T (p.Gly530Val)
c.1397G>T (p.Gly466Val)
1g.209626875C>GCA344590063LAMB3c.1589G>C (p.Gly530Ala)
c.1397G>C (p.Gly466Ala)
1g.209626875C>TCA344590064LAMB3c.1589G>A (p.Gly530Glu)
c.1397G>A (p.Gly466Glu)
1g.209626876delCA2586964560LAMB3c.1589del (p.Gly530AspfsTer30)
c.1397del (p.Gly466AspfsTer30)
1g.209626875_209626877delinsCCTCA2484299669LAMB3c.1587_1589delinsAGG (p.Thr529=)
c.1395_1397delinsAGG (p.Thr465=)
1g.209626876C>ACA344590067LAMB3c.1588G>T (p.Gly530Ter)
c.1396G>T (p.Gly466Ter)
1g.209626876C=CA2484299670LAMB3c.1588G= (p.Gly530=)
c.1396G= (p.Gly466=)
1g.209626876C>GCA344590066LAMB3c.1588G>C (p.Gly530Arg)
c.1396G>C (p.Gly466Arg)
1g.209626876C>TCA344590065LAMB3c.1588G>A (p.Gly530Arg)
c.1396G>A (p.Gly466Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209626876_209626877delCA257283LAMB3c.1587_1588del (p.Gly530MetfsTer5)
c.1395_1396del (p.Gly466MetfsTer5)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.209626877T>ACA423031199LAMB3c.1587A>T (p.Thr529=)
c.1395A>T (p.Thr465=)
1g.209626877T>CCA423031200LAMB3c.1587A>G (p.Thr529=)
c.1395A>G (p.Thr465=)
 ClinVar dbSNP
1g.209626877T>GCA423031201LAMB3c.1587A>C (p.Thr529=)
c.1395A>C (p.Thr465=)
1g.209626878G>ACA1375539LAMB3c.1586C>T (p.Thr529Ile)
c.1394C>T (p.Thr465Ile)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
1g.209626878G>CCA344590068LAMB3c.1586C>G (p.Thr529Arg)
c.1394C>G (p.Thr465Arg)
1g.209626878G=CA2484299671LAMB3c.1586C= (p.Thr529=)
c.1394C= (p.Thr465=)
1g.209626878G>TCA344590069LAMB3c.1586C>A (p.Thr529Lys)
c.1394C>A (p.Thr465Lys)
1g.209626879T>ACA344590070LAMB3c.1585A>T (p.Thr529Ser)
c.1393A>T (p.Thr465Ser)
1g.209626879T>CCA344590071LAMB3c.1585A>G (p.Thr529Ala)
c.1393A>G (p.Thr465Ala)
 gnomAD v4
1g.209626879T>GCA344590072LAMB3c.1585A>C (p.Thr529Pro)
c.1393A>C (p.Thr465Pro)
1g.209626880G>ACA423031202LAMB3c.1584C>T (p.Ala528=)
c.1392C>T (p.Ala464=)
1g.209626880G>CCA423031203LAMB3c.1584C>G (p.Ala528=)
c.1392C>G (p.Ala464=)
1g.209626880G>TCA423031204LAMB3c.1584C>A (p.Ala528=)
c.1392C>A (p.Ala464=)
1g.209626881G>ACA344590073LAMB3c.1583C>T (p.Ala528Val)
c.1391C>T (p.Ala464Val)
1g.209626881G>CCA344590074LAMB3c.1583C>G (p.Ala528Gly)
c.1391C>G (p.Ala464Gly)
1g.209626881G>TCA344590075LAMB3c.1583C>A (p.Ala528Asp)
c.1391C>A (p.Ala464Asp)
1g.209626882C>ACA344590076LAMB3c.1582G>T (p.Ala528Ser)
c.1390G>T (p.Ala464Ser)
 COSMIC
1g.209626882C=CA2484299672LAMB3c.1582G= (p.Ala528=)
c.1390G= (p.Ala464=)
1g.209626882C>GCA344590077LAMB3c.1582G>C (p.Ala528Pro)
c.1390G>C (p.Ala464Pro)
1g.209626882C>TCA344590078LAMB3c.1582G>A (p.Ala528Thr)
c.1390G>A (p.Ala464Thr)
 dbSNP gnomAD v2 gnomAD v4
1g.209626883C>ACA423031210LAMB3c.1581G>T (p.Val527=)
c.1389G>T (p.Val463=)
1g.209626883C>GCA423031214LAMB3c.1581G>C (p.Val527=)
c.1389G>C (p.Val463=)
1g.209626883C>TCA423031215LAMB3c.1581G>A (p.Val527=)
c.1389G>A (p.Val463=)
1g.209626884A=CA2484299673LAMB3c.1580T= (p.Val527=)
c.1388T= (p.Val463=)
1g.209626884A>CCA344590081LAMB3c.1580T>G (p.Val527Gly)
c.1388T>G (p.Val463Gly)
1g.209626884A>GCA344590080LAMB3c.1580T>C (p.Val527Ala)
c.1388T>C (p.Val463Ala)
 dbSNP gnomAD v2 gnomAD v4
1g.209626884A>TCA344590079LAMB3c.1580T>A (p.Val527Glu)
c.1388T>A (p.Val463Glu)
1g.209626885C>ACA344590083LAMB3c.1579G>T (p.Val527Leu)
c.1387G>T (p.Val463Leu)
1g.209626885C=CA1139912089LAMB3c.1579G= (p.Val527=)
c.1387G= (p.Val463=)
1g.209626885C>GCA344590082LAMB3c.1579G>C (p.Val527Leu)
c.1387G>C (p.Val463Leu)
1g.209626885C>TCA1375540LAMB3c.1579G>A (p.Val527Met)
c.1387G>A (p.Val463Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209626886G>ACA1375541LAMB3c.1578C>T (p.Asp526=)
c.1386C>T (p.Asp462=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209626886G>CCA344590084LAMB3c.1578C>G (p.Asp526Glu)
c.1386C>G (p.Asp462Glu)
 gnomAD v4
1g.209626886G=CA1147275104LAMB3c.1578C= (p.Asp526=)
c.1386C= (p.Asp462=)
1g.209626886G>TCA36756929LAMB3c.1578C>A (p.Asp526Glu)
c.1386C>A (p.Asp462Glu)
 dbSNP
1g.209626887T>ACA344590087LAMB3c.1577A>T (p.Asp526Val)
c.1385A>T (p.Asp462Val)
1g.209626887T>CCA344590086LAMB3c.1577A>G (p.Asp526Gly)
c.1385A>G (p.Asp462Gly)
1g.209626887T>GCA344590085LAMB3c.1577A>C (p.Asp526Ala)
c.1385A>C (p.Asp462Ala)
1g.209626888C>ACA344590088LAMB3c.1576G>T (p.Asp526Tyr)
c.1384G>T (p.Asp462Tyr)
1g.209626888C>GCA344590089LAMB3c.1576G>C (p.Asp526His)
c.1384G>C (p.Asp462His)
1g.209626888C>TCA344590090LAMB3c.1576G>A (p.Asp526Asn)
c.1384G>A (p.Asp462Asn)
 dbSNP gnomAD v4
1g.209626889T>ACA423031219LAMB3c.1575A>T (p.Gly525=)
c.1383A>T (p.Gly461=)
1g.209626889T>CCA423031218LAMB3c.1575A>G (p.Gly525=)
c.1383A>G (p.Gly461=)
1g.209626889T>GCA423031217LAMB3c.1575A>C (p.Gly525=)
c.1383A>C (p.Gly461=)
1g.209626890C>ACA344590091LAMB3c.1574G>T (p.Gly525Val)
c.1382G>T (p.Gly461Val)
1g.209626890C=CA2484299674LAMB3c.1574G= (p.Gly525=)
c.1382G= (p.Gly461=)
1g.209626890C>GCA1375542LAMB3c.1574G>C (p.Gly525Ala)
c.1382G>C (p.Gly461Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209626890C>TCA344590092LAMB3c.1574G>A (p.Gly525Glu)
c.1382G>A (p.Gly461Glu)
1g.209626890_209626902delinsCCATAGGTCCGGTCA2484299675LAMB3c.1562_1574delinsACCGGACCTATGG (p.Asp521=)
c.1370_1382delinsACCGGACCTATGG (p.Asp457=)
1g.209626891C>ACA344590093LAMB3c.1573G>T (p.Gly525Ter)
c.1381G>T (p.Gly461Ter)
1g.209626891C>GCA344590095LAMB3c.1573G>C (p.Gly525Arg)
c.1381G>C (p.Gly461Arg)
1g.209626891C>TCA344590094LAMB3c.1573G>A (p.Gly525Arg)
c.1381G>A (p.Gly461Arg)
 gnomAD v4
1g.209626892_209626903delCA730829405LAMB3c.1562_1573del (p.Asp521_Tyr524del)
c.1370_1381del (p.Asp457_Tyr460del)
 dbSNP gnomAD v3 gnomAD v4
1g.209626892A>CCA344590096LAMB3c.1572T>G (p.Tyr524Ter)
c.1380T>G (p.Tyr460Ter)
1g.209626892A>GCA423031220LAMB3c.1572T>C (p.Tyr524=)
c.1380T>C (p.Tyr460=)
 ClinVar dbSNP gnomAD v4
1g.209626892A>TCA344590097LAMB3c.1572T>A (p.Tyr524Ter)
c.1380T>A (p.Tyr460Ter)
1g.209626893T>ACA344590098LAMB3c.1571A>T (p.Tyr524Phe)
c.1379A>T (p.Tyr460Phe)
1g.209626893T>CCA1375543LAMB3c.1571A>G (p.Tyr524Cys)
c.1379A>G (p.Tyr460Cys)
 dbSNP ExAC gnomAD v4
1g.209626893T>GCA344590099LAMB3c.1571A>C (p.Tyr524Ser)
c.1379A>C (p.Tyr460Ser)
1g.209626893T=CA2484299676LAMB3c.1571A= (p.Tyr524=)
c.1379A= (p.Tyr460=)
1g.209626894A=CA2484299677LAMB3c.1570T= (p.Tyr524=)
c.1378T= (p.Tyr460=)
1g.209626894A>CCA344590100LAMB3c.1570T>G (p.Tyr524Asp)
c.1378T>G (p.Tyr460Asp)
1g.209626894A>GCA344590101LAMB3c.1570T>C (p.Tyr524His)
c.1378T>C (p.Tyr460His)
 dbSNP gnomAD v3 gnomAD v4
1g.209626894A>TCA344590102LAMB3c.1570T>A (p.Tyr524Asn)
c.1378T>A (p.Tyr460Asn)
1g.209626895G>ACA423031224LAMB3c.1569C>T (p.Thr523=)
c.1377C>T (p.Thr459=)
1g.209626895G>CCA423031226LAMB3c.1569C>G (p.Thr523=)
c.1377C>G (p.Thr459=)
1g.209626895G>TCA423031225LAMB3c.1569C>A (p.Thr523=)
c.1377C>A (p.Thr459=)
1g.209626896G>ACA344590103LAMB3c.1568C>T (p.Thr523Ile)
c.1376C>T (p.Thr459Ile)
1g.209626896G>CCA344590104LAMB3c.1568C>G (p.Thr523Ser)
c.1376C>G (p.Thr459Ser)
1g.209626896G>TCA344590105LAMB3c.1568C>A (p.Thr523Asn)
c.1376C>A (p.Thr459Asn)
1g.209626897T>ACA344590107LAMB3c.1567A>T (p.Thr523Ser)
c.1375A>T (p.Thr459Ser)
1g.209626897T>CCA344590108LAMB3c.1567A>G (p.Thr523Ala)
c.1375A>G (p.Thr459Ala)
1g.209626897T>GCA344590106LAMB3c.1567A>C (p.Thr523Pro)
c.1375A>C (p.Thr459Pro)
1g.209626898C>ACA423031231LAMB3c.1566G>T (p.Arg522=)
c.1374G>T (p.Arg458=)
1g.209626898C=CA1148287490LAMB3c.1566G= (p.Arg522=)
c.1374G= (p.Arg458=)
1g.209626898C>GCA1375544LAMB3c.1566G>C (p.Arg522=)
c.1374G>C (p.Arg458=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209626898C>TCA423031233LAMB3c.1566G>A (p.Arg522=)
c.1374G>A (p.Arg458=)
1g.209626899C>ACA344590110LAMB3c.1565G>T (p.Arg522Leu)
c.1373G>T (p.Arg458Leu)
1g.209626899C=CA1141980260LAMB3c.1565G= (p.Arg522=)
c.1373G= (p.Arg458=)
1g.209626899C>GCA344590109LAMB3c.1565G>C (p.Arg522Pro)
c.1373G>C (p.Arg458Pro)
1g.209626899C>TCA1375545LAMB3c.1565G>A (p.Arg522Gln)
c.1373G>A (p.Arg458Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209626900G>ACA1375546LAMB3c.1564C>T (p.Arg522Trp)
c.1372C>T (p.Arg458Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.209626900G>CCA344590111LAMB3c.1564C>G (p.Arg522Gly)
c.1372C>G (p.Arg458Gly)
1g.209626900G=CA2484299678LAMB3c.1564C= (p.Arg522=)
c.1372C= (p.Arg458=)
1g.209626900G>TCA423031235LAMB3c.1564C>A (p.Arg522=)
c.1372C>A (p.Arg458=)
1g.209626901G>ACA423031237LAMB3c.1563C>T (p.Asp521=)
c.1371C>T (p.Asp457=)
1g.209626901G>CCA344590112LAMB3c.1563C>G (p.Asp521Glu)
c.1371C>G (p.Asp457Glu)
1g.209626901G=CA2484299679LAMB3c.1563C= (p.Asp521=)
c.1371C= (p.Asp457=)
1g.209626901G>TCA344590113LAMB3c.1563C>A (p.Asp521Glu)
c.1371C>A (p.Asp457Glu)
 dbSNP gnomAD v3 gnomAD v4
1g.209626902T>ACA344590114LAMB3c.1562A>T (p.Asp521Val)
c.1370A>T (p.Asp457Val)
1g.209626902T>CCA344590115LAMB3c.1562A>G (p.Asp521Gly)
c.1370A>G (p.Asp457Gly)
 dbSNP
1g.209626902T>GCA344590116LAMB3c.1562A>C (p.Asp521Ala)
c.1370A>C (p.Asp457Ala)
1g.209626902T=CA2484299680LAMB3c.1562A= (p.Asp521=)
c.1370A= (p.Asp457=)
1g.209626903C>ACA1375547LAMB3c.1561G>T (p.Asp521Tyr)
c.1369G>T (p.Asp457Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209626903C=CA1142328974LAMB3c.1561G= (p.Asp521=)
c.1369G= (p.Asp457=)
1g.209626903C>GCA344590117LAMB3c.1561G>C (p.Asp521His)
c.1369G>C (p.Asp457His)
1g.209626903C>TCA344590118LAMB3c.1561G>A (p.Asp521Asn)
c.1369G>A (p.Asp457Asn)
 dbSNP
1g.209626904T>ACA423031241LAMB3c.1560A>T (p.Pro520=)
c.1368A>T (p.Pro456=)
 ClinVar gnomAD v4
1g.209626904T>CCA36756935LAMB3c.1560A>G (p.Pro520=)
c.1368A>G (p.Pro456=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209626904T>GCA423031242LAMB3c.1560A>C (p.Pro520=)
c.1368A>C (p.Pro456=)
1g.209626904T=CA2484299681LAMB3c.1560A= (p.Pro520=)
c.1368A= (p.Pro456=)
1g.209626905G>ACA344590121LAMB3c.1559C>T (p.Pro520Leu)
c.1367C>T (p.Pro456Leu)
1g.209626905G>CCA344590119LAMB3c.1559C>G (p.Pro520Arg)
c.1367C>G (p.Pro456Arg)
1g.209626905G>TCA344590120LAMB3c.1559C>A (p.Pro520Gln)
c.1367C>A (p.Pro456Gln)
1g.209626906G>ACA1375548LAMB3c.1558C>T (p.Pro520Ser)
c.1366C>T (p.Pro456Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209626906G>CCA344590122LAMB3c.1558C>G (p.Pro520Ala)
c.1366C>G (p.Pro456Ala)
1g.209626906G=CA2484299682LAMB3c.1558C= (p.Pro520=)
c.1366C= (p.Pro456=)
1g.209626906G>TCA344590123LAMB3c.1558C>A (p.Pro520Thr)
c.1366C>A (p.Pro456Thr)
 gnomAD v4
1g.209626907A>CCA344590124LAMB3c.1557T>G (p.Cys519Trp)
c.1365T>G (p.Cys455Trp)
1g.209626907A>GCA423031247LAMB3c.1557T>C (p.Cys519=)
c.1365T>C (p.Cys455=)
1g.209626907A>TCA344590125LAMB3c.1557T>A (p.Cys519Ter)
c.1365T>A (p.Cys455Ter)
1g.209626908C>ACA344590126LAMB3c.1556G>T (p.Cys519Phe)
c.1364G>T (p.Cys455Phe)
1g.209626908C=CA2484299683LAMB3c.1556G= (p.Cys519=)
c.1364G= (p.Cys455=)
1g.209626908C>GCA344590127LAMB3c.1556G>C (p.Cys519Ser)
c.1364G>C (p.Cys455Ser)
1g.209626908C>TCA344590128LAMB3c.1556G>A (p.Cys519Tyr)
c.1364G>A (p.Cys455Tyr)
 dbSNP gnomAD v2
1g.209626909A=CA2484299684LAMB3c.1555T= (p.Cys519=)
c.1363T= (p.Cys455=)
1g.209626909A>CCA344590129LAMB3c.1555T>G (p.Cys519Gly)
c.1363T>G (p.Cys455Gly)
1g.209626909A>GCA344590130LAMB3c.1555T>C (p.Cys519Arg)
c.1363T>C (p.Cys455Arg)
1g.209626909A>TCA1375549LAMB3c.1555T>A (p.Cys519Ser)
c.1363T>A (p.Cys455Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209626910C>ACA344590132LAMB3c.1554G>T (p.Gln518His)
c.1362G>T (p.Gln454His)
1g.209626910C=CA2484299685LAMB3c.1554G= (p.Gln518=)
c.1362G= (p.Gln454=)
1g.209626910C>GCA344590131LAMB3c.1554G>C (p.Gln518His)
c.1362G>C (p.Gln454His)
1g.209626910C>TCA423031249LAMB3c.1554G>A (p.Gln518=)
c.1362G>A (p.Gln454=)
 dbSNP gnomAD v3 gnomAD v4
1g.209626911T>ACA344590133LAMB3c.1553A>T (p.Gln518Leu)
c.1361A>T (p.Gln454Leu)
1g.209626911T>CCA344590134LAMB3c.1553A>G (p.Gln518Arg)
c.1361A>G (p.Gln454Arg)
1g.209626911T>GCA344590135LAMB3c.1553A>C (p.Gln518Pro)
c.1361A>C (p.Gln454Pro)
1g.209626912G>ACA344590136LAMB3c.1552C>T (p.Gln518Ter)
c.1360C>T (p.Gln454Ter)
 ClinVar gnomAD v4
1g.209626912G>CCA344590137LAMB3c.1552C>G (p.Gln518Glu)
c.1360C>G (p.Gln454Glu)
1g.209626912G>TCA344590138LAMB3c.1552C>A (p.Gln518Lys)
c.1360C>A (p.Gln454Lys)
1g.209626913G>ACA423031250LAMB3c.1551C>T (p.Arg517=)
c.1359C>T (p.Arg453=)
1g.209626913G>CCA423031251LAMB3c.1551C>G (p.Arg517=)
c.1359C>G (p.Arg453=)
1g.209626913G>TCA423031252LAMB3c.1551C>A (p.Arg517=)
c.1359C>A (p.Arg453=)
1g.209626914C>ACA36756937LAMB3c.1550G>T (p.Arg517Leu)
c.1358G>T (p.Arg453Leu)
 dbSNP gnomAD v2 gnomAD v4
1g.209626914C=CA2484299686LAMB3c.1550G= (p.Arg517=)
c.1358G= (p.Arg453=)
1g.209626914C>GCA344590139LAMB3c.1550G>C (p.Arg517Pro)
c.1358G>C (p.Arg453Pro)
1g.209626914C>TCA344590140LAMB3c.1550G>A (p.Arg517His)
c.1358G>A (p.Arg453His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.209626915G>ACA1375550LAMB3c.1549C>T (p.Arg517Cys)
c.1357C>T (p.Arg453Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209626915G>CCA344590141LAMB3c.1549C>G (p.Arg517Gly)
c.1357C>G (p.Arg453Gly)
1g.209626915G=CA1141110836LAMB3c.1549C= (p.Arg517=)
c.1357C= (p.Arg453=)
1g.209626915G>TCA344590142LAMB3c.1549C>A (p.Arg517Ser)
c.1357C>A (p.Arg453Ser)
1g.209626916G>ACA423031257LAMB3c.1548C>T (p.Ile516=)
c.1356C>T (p.Ile452=)
 ClinVar
1g.209626916G>CCA344590143LAMB3c.1548C>G (p.Ile516Met)
c.1356C>G (p.Ile452Met)
 gnomAD v4
1g.209626916G>TCA423031258LAMB3c.1548C>A (p.Ile516=)
c.1356C>A (p.Ile452=)
 gnomAD v4
1g.209626917A>CCA344590146LAMB3c.1547T>G (p.Ile516Ser)
c.1355T>G (p.Ile452Ser)
1g.209626917A>GCA344590144LAMB3c.1547T>C (p.Ile516Thr)
c.1355T>C (p.Ile452Thr)
1g.209626917A>TCA344590145LAMB3c.1547T>A (p.Ile516Asn)
c.1355T>A (p.Ile452Asn)
1g.209626918T>ACA344590147LAMB3c.1546A>T (p.Ile516Phe)
c.1354A>T (p.Ile452Phe)
1g.209626918T>CCA1375551LAMB3c.1546A>G (p.Ile516Val)
c.1354A>G (p.Ile452Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209626918T>GCA344590148LAMB3c.1546A>C (p.Ile516Leu)
c.1354A>C (p.Ile452Leu)
1g.209626918T=CA1142275416LAMB3c.1546A= (p.Ile516=)
c.1354A= (p.Ile452=)
1g.209626919G>ACA423031259LAMB3c.1545C>T (p.Ala515=)
c.1353C>T (p.Ala451=)
1g.209626919G>CCA423031260LAMB3c.1545C>G (p.Ala515=)
c.1353C>G (p.Ala451=)
1g.209626919G>TCA423031261LAMB3c.1545C>A (p.Ala515=)
c.1353C>A (p.Ala451=)
1g.209626920G>ACA344590149LAMB3c.1544C>T (p.Ala515Val)
c.1352C>T (p.Ala451Val)
1g.209626920G>CCA344590150LAMB3c.1544C>G (p.Ala515Gly)
c.1352C>G (p.Ala451Gly)
1g.209626920G>TCA344590151LAMB3c.1544C>A (p.Ala515Asp)
c.1352C>A (p.Ala451Asp)
1g.209626921C>ACA344590152LAMB3c.1543G>T (p.Ala515Ser)
c.1351G>T (p.Ala451Ser)
1g.209626921C=CA2484299687LAMB3c.1543G= (p.Ala515=)
c.1351G= (p.Ala451=)
1g.209626921C>GCA344590153LAMB3c.1543G>C (p.Ala515Pro)
c.1351G>C (p.Ala451Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209626921C>TCA344590154LAMB3c.1543G>A (p.Ala515Thr)
c.1351G>A (p.Ala451Thr)
1g.209626922T>ACA423031264LAMB3c.1542A>T (p.Ala514=)
c.1350A>T (p.Ala450=)
1g.209626922T>CCA423031268LAMB3c.1542A>G (p.Ala514=)
c.1350A>G (p.Ala450=)
1g.209626922T>GCA423031269LAMB3c.1542A>C (p.Ala514=)
c.1350A>C (p.Ala450=)
 dbSNP gnomAD v3 gnomAD v4
1g.209626922T=CA2484299688LAMB3c.1542A= (p.Ala514=)
c.1350A= (p.Ala450=)
1g.209626923G>ACA344590155LAMB3c.1541C>T (p.Ala514Val)
c.1349C>T (p.Ala450Val)
1g.209626923G>CCA344590156LAMB3c.1541C>G (p.Ala514Gly)
c.1349C>G (p.Ala450Gly)
1g.209626923G=CA2484299689LAMB3c.1541C= (p.Ala514=)
c.1349C= (p.Ala450=)
1g.209626923G>TCA1375552LAMB3c.1541C>A (p.Ala514Glu)
c.1349C>A (p.Ala450Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209626924C>ACA344590158LAMB3c.1540G>T (p.Ala514Ser)
c.1348G>T (p.Ala450Ser)
1g.209626924C=CA2484299690LAMB3c.1540G= (p.Ala514=)
c.1348G= (p.Ala450=)
1g.209626924C>GCA344590159LAMB3c.1540G>C (p.Ala514Pro)
c.1348G>C (p.Ala450Pro)
1g.209626924C>TCA344590157LAMB3c.1540G>A (p.Ala514Thr)
c.1348G>A (p.Ala450Thr)
 dbSNP gnomAD v2 gnomAD v4
1g.209626925A>CCA423031272LAMB3c.1539T>G (p.Ala513=)
c.1347T>G (p.Ala449=)
1g.209626925A>GCA423031274LAMB3c.1539T>C (p.Ala513=)
c.1347T>C (p.Ala449=)
 gnomAD v4
1g.209626925A>TCA423031275LAMB3c.1539T>A (p.Ala513=)
c.1347T>A (p.Ala449=)
1g.209626926G>ACA344590161LAMB3c.1538C>T (p.Ala513Val)
c.1346C>T (p.Ala449Val)
 dbSNP
1g.209626926G>CCA344590160LAMB3c.1538C>G (p.Ala513Gly)
c.1346C>G (p.Ala449Gly)
1g.209626926G=CA2484299691LAMB3c.1538C= (p.Ala513=)
c.1346C= (p.Ala449=)
1g.209626926G>TCA344590162LAMB3c.1538C>A (p.Ala513Asp)
c.1346C>A (p.Ala449Asp)
1g.209626927C>ACA344590163LAMB3c.1537G>T (p.Ala513Ser)
c.1345G>T (p.Ala449Ser)
 gnomAD v4
1g.209626927C=CA2484299692LAMB3c.1537G= (p.Ala513=)
c.1345G= (p.Ala449=)
1g.209626927C>GCA344590165LAMB3c.1537G>C (p.Ala513Pro)
c.1345G>C (p.Ala449Pro)
 dbSNP gnomAD v2
1g.209626927C>TCA344590164LAMB3c.1537G>A (p.Ala513Thr)
c.1345G>A (p.Ala449Thr)
 dbSNP gnomAD v3 gnomAD v4
1g.209626928G>ACA1375553LAMB3c.1536C>T (p.Ser512=)
c.1344C>T (p.Ser448=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209626928G>CCA344590166LAMB3c.1536C>G (p.Ser512Arg)
c.1344C>G (p.Ser448Arg)
1g.209626928G=CA1144048421LAMB3c.1536C= (p.Ser512=)
c.1344C= (p.Ser448=)
1g.209626928G>TCA36756955LAMB3c.1536C>A (p.Ser512Arg)
c.1344C>A (p.Ser448Arg)
 ClinVar dbSNP gnomAD v4
1g.209626929C>ACA344590167LAMB3c.1535G>T (p.Ser512Ile)
c.1343G>T (p.Ser448Ile)
1g.209626929C>GCA344590168LAMB3c.1535G>C (p.Ser512Thr)
c.1343G>C (p.Ser448Thr)
1g.209626929C>TCA344590169LAMB3c.1535G>A (p.Ser512Asn)
c.1343G>A (p.Ser448Asn)

Number of alleles fetched