Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.76347022_76347026delinsATAACCA2047353594BBS10c.959_963delinsGTTAT (p.Ser320=)
12g.76347030_76347033delCA6694256BBS10c.959_962del (p.Ser320IlefsTer5)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.76347026C>ACA385813429BBS10c.959G>T (p.Ser320Ile)
dbSNP
12g.76347026C>GCA385813431BBS10c.959G>C (p.Ser320Thr)
12g.76347026C>TCA385813433BBS10c.959G>A (p.Ser320Asn)
12g.76347027T>ACA385813437BBS10c.958A>T (p.Ser320Cys)
12g.76347027T>CCA385813439BBS10c.958A>G (p.Ser320Gly)
12g.76347027T>GCA385813435BBS10c.958A>C (p.Ser320Arg)
12g.76347028A=CA2047353598BBS10c.957T= (p.Val319=)
12g.76347028A>CCA481011617BBS10c.957T>G (p.Val319=)
12g.76347028A>GCA6694258BBS10c.957T>C (p.Val319=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.76347028A>TCA481011618BBS10c.957T>A (p.Val319=)
12g.76347029A=CA2047353599BBS10c.956T= (p.Val319=)
12g.76347029A>CCA6694259BBS10c.956T>G (p.Val319Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.76347029A>GCA385813445BBS10c.956T>C (p.Val319Ala)
12g.76347029A>TCA385813447BBS10c.956T>A (p.Val319Asp)
12g.76347030C>ACA385813451BBS10c.955G>T (p.Val319Phe)
12g.76347030C=CA2047353600BBS10c.955G= (p.Val319=)
12g.76347030C>GCA6694260BBS10c.955G>C (p.Val319Leu)
ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
12g.76347030C>TCA385813450BBS10c.955G>A (p.Val319Ile)
12g.76347031T>ACA239332138BBS10c.954A>T (p.Leu318Phe)
dbSNP gnomAD v2
12g.76347031T>CCA481011620BBS10c.954A>G (p.Leu318=)
gnomAD v4
12g.76347031T>GCA385813457BBS10c.954A>C (p.Leu318Phe)
12g.76347031T=CA2047353601BBS10c.954A= (p.Leu318=)
12g.76347032A>CCA385813459BBS10c.953T>G (p.Leu318Ter)
12g.76347032A>GCA385813461BBS10c.953T>C (p.Leu318Ser)
12g.76347032A>TCA385813463BBS10c.953T>A (p.Leu318Ter)
12g.76347034delCA2573148993BBS10c.953del (p.Leu318Ter)
ClinVar dbSNP
12g.76347033A=CA2047353602BBS10c.952T= (p.Leu318=)
12g.76347033A>CCA6694261BBS10c.952T>G (p.Leu318Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.76347033A>GCA481011621BBS10c.952T>C (p.Leu318=)
12g.76347033A>TCA385813466BBS10c.952T>A (p.Leu318Ile)
12g.76347034A>CCA385813469BBS10c.951T>G (p.Asp317Glu)
12g.76347034A>GCA481011623BBS10c.951T>C (p.Asp317=)
ClinVar
12g.76347034A>TCA385813468BBS10c.951T>A (p.Asp317Glu)
12g.76347035T>ACA385813472BBS10c.950A>T (p.Asp317Val)
gnomAD v4
12g.76347035T>CCA385813475BBS10c.950A>G (p.Asp317Gly)
12g.76347035T>GCA385813474BBS10c.950A>C (p.Asp317Ala)
12g.76347036C>ACA385813478BBS10c.949G>T (p.Asp317Tyr)
COSMIC
12g.76347036C>GCA385813480BBS10c.949G>C (p.Asp317His)
12g.76347036C>TCA385813481BBS10c.949G>A (p.Asp317Asn)
12g.76347037T>ACA481011624BBS10c.948A>T (p.Pro316=)
12g.76347037T>CCA481011625BBS10c.948A>G (p.Pro316=)
12g.76347037T>GCA481011626BBS10c.948A>C (p.Pro316=)
12g.76347038G>ACA385813484BBS10c.947C>T (p.Pro316Leu)
gnomAD v4
12g.76347038G>CCA385813486BBS10c.947C>G (p.Pro316Arg)
gnomAD v4
12g.76347038G>TCA385813488BBS10c.947C>A (p.Pro316Gln)
12g.76347039G>ACA385813494BBS10c.946C>T (p.Pro316Ser)
12g.76347039G>CCA385813490BBS10c.946C>G (p.Pro316Ala)
ClinVar dbSNP
12g.76347039G>TCA385813492BBS10c.946C>A (p.Pro316Thr)
gnomAD v4

Number of alleles fetched