Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.76346021_76346030del | CA2695217029 | BBS10 | c.1958_1967del (p.Ser653IlefsTer4) | |
12 | g.76346025_76346026delinsAG | CA2047353121 | BBS10 | c.1959_1960delinsCT (p.Ser653=) | |
12 | g.76346026del | CA16041575 | BBS10 | c.1959del (p.Pro655HisfsTer5) | ClinVar dbSNP |
12 | g.76346026G>A | CA6694073 | BBS10 | c.1959C>T (p.Ser653=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346026G>C | CA385808763 | BBS10 | c.1959C>G (p.Ser653Arg) | |
12 | g.76346026G= | CA2047353122 | BBS10 | c.1959C= (p.Ser653=) | |
12 | g.76346026G>T | CA385808767 | BBS10 | c.1959C>A (p.Ser653Arg) | |
12 | g.76346027C>A | CA385808773 | BBS10 | c.1958G>T (p.Ser653Ile) | |
12 | g.76346027C>G | CA385808775 | BBS10 | c.1958G>C (p.Ser653Thr) | |
12 | g.76346027C>T | CA385808778 | BBS10 | c.1958G>A (p.Ser653Asn) | |
12 | g.76346028T>A | CA385808788 | BBS10 | c.1957A>T (p.Ser653Cys) | |
12 | g.76346028T>C | CA385808789 | BBS10 | c.1957A>G (p.Ser653Gly) | |
12 | g.76346028T>G | CA385808785 | BBS10 | c.1957A>C (p.Ser653Arg) | |
12 | g.76346029del | CA2619945586 | BBS10 | c.1956del (p.Tyr652Ter) | gnomAD v4 |
12 | g.76346029G>A | CA481011034 | BBS10 | c.1956C>T (p.Tyr652=) | ClinVar dbSNP |
12 | g.76346029G>C | CA385808798 | BBS10 | c.1956C>G (p.Tyr652Ter) | ClinVar |
12 | g.76346029G= | CA2047353123 | BBS10 | c.1956C= (p.Tyr652=) | |
12 | g.76346029G>T | CA385808795 | BBS10 | c.1956C>A (p.Tyr652Ter) | |
12 | g.76346030T>A | CA385808802 | BBS10 | c.1955A>T (p.Tyr652Phe) | |
12 | g.76346030T>C | CA385808805 | BBS10 | c.1955A>G (p.Tyr652Cys) | gnomAD v4 |
12 | g.76346030T>G | CA385808806 | BBS10 | c.1955A>C (p.Tyr652Ser) | |
12 | g.76346031A= | CA2047353124 | BBS10 | c.1954T= (p.Tyr652=) | |
12 | g.76346031A>C | CA385808807 | BBS10 | c.1954T>G (p.Tyr652Asp) | |
12 | g.76346031A>G | CA6694074 | BBS10 | c.1954T>C (p.Tyr652His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76346031A>T | CA385808809 | BBS10 | c.1954T>A (p.Tyr652Asn) | |
12 | g.76346032C>A | CA385808812 | BBS10 | c.1953G>T (p.Lys651Asn) | |
12 | g.76346032C= | CA2047353125 | BBS10 | c.1953G= (p.Lys651=) | |
12 | g.76346032C>G | CA385808814 | BBS10 | c.1953G>C (p.Lys651Asn) | |
12 | g.76346032C>T | CA481011044 | BBS10 | c.1953G>A (p.Lys651=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.76346032_76346033del | CA912974180 | BBS10 | c.1952_1953del (p.Lys651IlefsTer?) | |
12 | g.76346032_76346033delinsCT | CA2047353126 | BBS10 | c.1952_1953delinsAG (p.Lys651=) | |
12 | g.76346033T>A | CA385808818 | BBS10 | c.1952A>T (p.Lys651Met) | |
12 | g.76346033T>C | CA385808819 | BBS10 | c.1952A>G (p.Lys651Arg) | |
12 | g.76346033T>G | CA385808822 | BBS10 | c.1952A>C (p.Lys651Thr) | |
12 | g.76346035del | CA658823422 | BBS10 | c.1952del (p.Lys651SerfsTer9) | ClinVar dbSNP |
12 | g.76346034T>A | CA385808831 | BBS10 | c.1951A>T (p.Lys651Ter) | |
12 | g.76346034T>C | CA385808828 | BBS10 | c.1951A>G (p.Lys651Glu) | gnomAD v4 |
12 | g.76346034T>G | CA385808825 | BBS10 | c.1951A>C (p.Lys651Gln) | |
12 | g.76346035T>A | CA481011046 | BBS10 | c.1950A>T (p.Gly650=) | |
12 | g.76346035T>C | CA481011047 | BBS10 | c.1950A>G (p.Gly650=) | gnomAD v4 |
12 | g.76346035T>G | CA481011048 | BBS10 | c.1950A>C (p.Gly650=) | ClinVar dbSNP |
12 | g.76346035T= | CA2047353128 | BBS10 | c.1950A= (p.Gly650=) | |
12 | g.76346035_76346036del | CA912974181 | BBS10 | c.1949_1950del (p.Gly650GlufsTer?) | |
12 | g.76346035_76346036delinsTC | CA2047353127 | BBS10 | c.1949_1950delinsGA (p.Gly650=) | |
12 | g.76346036C>A | CA385808835 | BBS10 | c.1949G>T (p.Gly650Val) | |
12 | g.76346036C>G | CA385808837 | BBS10 | c.1949G>C (p.Gly650Ala) | |
12 | g.76346036C>T | CA385808843 | BBS10 | c.1949G>A (p.Gly650Glu) | |
12 | g.76346037del | CA6694075 | BBS10 | c.1949del (p.Gly650GlufsTer10) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76346037C>A | CA385808847 | BBS10 | c.1948G>T (p.Gly650Ter) | |
12 | g.76346037C= | CA2047353129 | BBS10 | c.1948G= (p.Gly650=) |