Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.209617419A>CCA344583564LAMB3c.3219T>G (p.Ser1073Arg)
c.426T>G (p.Ser142Arg)
c.3027T>G (p.Ser1009Arg)
1g.209617419A>GCA423029329LAMB3c.3219T>C (p.Ser1073=)
c.426T>C (p.Ser142=)
c.3027T>C (p.Ser1009=)
1g.209617419A>TCA344583566LAMB3c.3219T>A (p.Ser1073Arg)
c.426T>A (p.Ser142Arg)
c.3027T>A (p.Ser1009Arg)
1g.209617420C>ACA344583569LAMB3c.3218G>T (p.Ser1073Ile)
c.425G>T (p.Ser142Ile)
c.3026G>T (p.Ser1009Ile)
1g.209617420C=CA2484295849LAMB3c.3218G= (p.Ser1073=)
c.425G= (p.Ser142=)
c.3026G= (p.Ser1009=)
1g.209617420C>GCA344583571LAMB3c.3218G>C (p.Ser1073Thr)
c.425G>C (p.Ser142Thr)
c.3026G>C (p.Ser1009Thr)
1g.209617420C>TCA1374948LAMB3c.3218G>A (p.Ser1073Asn)
c.425G>A (p.Ser142Asn)
c.3026G>A (p.Ser1009Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209617421T>ACA344583577LAMB3c.3217A>T (p.Ser1073Cys)
c.424A>T (p.Ser142Cys)
c.3025A>T (p.Ser1009Cys)
1g.209617421T>CCA344583578LAMB3c.3217A>G (p.Ser1073Gly)
c.424A>G (p.Ser142Gly)
c.3025A>G (p.Ser1009Gly)
dbSNP gnomAD v2 gnomAD v4
1g.209617421T>GCA344583582LAMB3c.3217A>C (p.Ser1073Arg)
c.424A>C (p.Ser142Arg)
c.3025A>C (p.Ser1009Arg)
1g.209617421T=CA2484295850LAMB3c.3217A= (p.Ser1073=)
c.424A= (p.Ser142=)
c.3025A= (p.Ser1009=)
1g.209617422C>ACA344583586LAMB3c.3216G>T (p.Leu1072Phe)
c.423G>T (p.Leu141Phe)
c.3024G>T (p.Leu1008Phe)
1g.209617422C>GCA344583589LAMB3c.3216G>C (p.Leu1072Phe)
c.423G>C (p.Leu141Phe)
c.3024G>C (p.Leu1008Phe)
1g.209617422C>TCA423029334LAMB3c.3216G>A (p.Leu1072=)
c.423G>A (p.Leu141=)
c.3024G>A (p.Leu1008=)
gnomAD v4
1g.209617423A=CA2484295851LAMB3c.3215T= (p.Leu1072=)
c.422T= (p.Leu141=)
c.3023T= (p.Leu1008=)
1g.209617423A>CCA344583593LAMB3c.3215T>G (p.Leu1072Trp)
c.422T>G (p.Leu141Trp)
c.3023T>G (p.Leu1008Trp)
1g.209617423A>GCA344583596LAMB3c.3215T>C (p.Leu1072Ser)
c.422T>C (p.Leu141Ser)
c.3023T>C (p.Leu1008Ser)
dbSNP gnomAD v2 gnomAD v4
1g.209617423A>TCA344583601LAMB3c.3215T>A (p.Leu1072Ter)
c.422T>A (p.Leu141Ter)
c.3023T>A (p.Leu1008Ter)
1g.209617424A=CA2484295852LAMB3c.3214T= (p.Leu1072=)
c.421T= (p.Leu141=)
c.3022T= (p.Leu1008=)
1g.209617424A>CCA344583608LAMB3c.3214T>G (p.Leu1072Val)
c.421T>G (p.Leu141Val)
c.3022T>G (p.Leu1008Val)
1g.209617424A>GCA423029339LAMB3c.3214T>C (p.Leu1072=)
c.421T>C (p.Leu141=)
c.3022T>C (p.Leu1008=)
gnomAD v2 gnomAD v4
1g.209617424A>TCA344583605LAMB3c.3214T>A (p.Leu1072Met)
c.421T>A (p.Leu141Met)
c.3022T>A (p.Leu1008Met)
dbSNP gnomAD v2 gnomAD v4
1g.209617424_209617428delinsATGCCCA2484295853LAMB3c.3210_3214delinsGGCAT (p.Gln1070=)
c.417_421delinsGGCAT (p.Gln139=)
c.3018_3022delinsGGCAT (p.Gln1006=)
1g.209617425T>ACA423029341LAMB3c.3213A>T (p.Ala1071=)
c.420A>T (p.Ala140=)
c.3021A>T (p.Ala1007=)
ClinVar dbSNP gnomAD v4
1g.209617425T>CCA423029343LAMB3c.3213A>G (p.Ala1071=)
c.420A>G (p.Ala140=)
c.3021A>G (p.Ala1007=)
dbSNP gnomAD v3 gnomAD v4
1g.209617425T>GCA423029344LAMB3c.3213A>C (p.Ala1071=)
c.420A>C (p.Ala140=)
c.3021A>C (p.Ala1007=)
gnomAD v4
1g.209617425T=CA2484295854LAMB3c.3213A= (p.Ala1071=)
c.420A= (p.Ala140=)
c.3021A= (p.Ala1007=)
1g.209617428_209617431delCA529000141LAMB3c.3210_3213del (p.Gln1070HisfsTer2)
c.417_420del (p.Gln139HisfsTer2)
c.3018_3021del (p.Gln1006HisfsTer2)
dbSNP gnomAD v2 gnomAD v4
1g.209617426G>ACA344583613LAMB3c.3212C>T (p.Ala1071Val)
c.419C>T (p.Ala140Val)
c.3020C>T (p.Ala1007Val)
gnomAD v4
1g.209617426G>CCA344583617LAMB3c.3212C>G (p.Ala1071Gly)
c.419C>G (p.Ala140Gly)
c.3020C>G (p.Ala1007Gly)
1g.209617426G=CA2484295855LAMB3c.3212C= (p.Ala1071=)
c.419C= (p.Ala140=)
c.3020C= (p.Ala1007=)
1g.209617426G>TCA1374949LAMB3c.3212C>A (p.Ala1071Glu)
c.419C>A (p.Ala140Glu)
c.3020C>A (p.Ala1007Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.209617427C>ACA344583619LAMB3c.3211G>T (p.Ala1071Ser)
c.418G>T (p.Ala140Ser)
c.3019G>T (p.Ala1007Ser)
1g.209617427C=CA1148301184LAMB3c.3211G= (p.Ala1071=)
c.418G= (p.Ala140=)
c.3019G= (p.Ala1007=)
1g.209617427C>GCA1374950LAMB3c.3211G>C (p.Ala1071Pro)
c.418G>C (p.Ala140Pro)
c.3019G>C (p.Ala1007Pro)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209617427C>TCA10608965LAMB3c.3211G>A (p.Ala1071Thr)
c.418G>A (p.Ala140Thr)
c.3019G>A (p.Ala1007Thr)
ClinVar dbSNP gnomAD v4
1g.209617428C>ACA344583621LAMB3c.3210G>T (p.Gln1070His)
c.417G>T (p.Gln139His)
c.3018G>T (p.Gln1006His)
1g.209617428C=CA2484295856LAMB3c.3210G= (p.Gln1070=)
c.417G= (p.Gln139=)
c.3018G= (p.Gln1006=)
1g.209617428C>GCA344583624LAMB3c.3210G>C (p.Gln1070His)
c.417G>C (p.Gln139His)
c.3018G>C (p.Gln1006His)
1g.209617428C>TCA423029352LAMB3c.3210G>A (p.Gln1070=)
c.417G>A (p.Gln139=)
c.3018G>A (p.Gln1006=)
dbSNP
1g.209617429T>ACA344583627LAMB3c.3209A>T (p.Gln1070Leu)
c.416A>T (p.Gln139Leu)
c.3017A>T (p.Gln1006Leu)
1g.209617429T>CCA344583629LAMB3c.3209A>G (p.Gln1070Arg)
c.416A>G (p.Gln139Arg)
c.3017A>G (p.Gln1006Arg)
1g.209617429T>GCA344583630LAMB3c.3209A>C (p.Gln1070Pro)
c.416A>C (p.Gln139Pro)
c.3017A>C (p.Gln1006Pro)
1g.209617430G>ACA344583631LAMB3c.3208C>T (p.Gln1070Ter)
c.415C>T (p.Gln139Ter)
c.3016C>T (p.Gln1006Ter)
1g.209617430G>CCA344583633LAMB3c.3208C>G (p.Gln1070Glu)
c.415C>G (p.Gln139Glu)
c.3016C>G (p.Gln1006Glu)
1g.209617430G>TCA344583635LAMB3c.3208C>A (p.Gln1070Lys)
c.415C>A (p.Gln139Lys)
c.3016C>A (p.Gln1006Lys)
1g.209617431C>ACA1374951LAMB3c.3207G>T (p.Glu1069Asp)
c.414G>T (p.Glu138Asp)
c.3015G>T (p.Glu1005Asp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209617431C=CA2484295857LAMB3c.3207G= (p.Glu1069=)
c.414G= (p.Glu138=)
c.3015G= (p.Glu1005=)
1g.209617431C>GCA344583638LAMB3c.3207G>C (p.Glu1069Asp)
c.414G>C (p.Glu138Asp)
c.3015G>C (p.Glu1005Asp)
1g.209617431C>TCA423029360LAMB3c.3207G>A (p.Glu1069=)
c.414G>A (p.Glu138=)
c.3015G>A (p.Glu1005=)
gnomAD v4

Number of alleles fetched