Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.76346157A>C | CA385809721 | BBS10 | c.1828T>G (p.Leu610Val) | gnomAD v4 |
12 | g.76346157A>G | CA481010834 | BBS10 | c.1828T>C (p.Leu610=) | ClinVar |
12 | g.76346157A>T | CA385809724 | BBS10 | c.1828T>A (p.Leu610Ile) | |
12 | g.76346158C>A | CA6694099 | BBS10 | c.1827G>T (p.Leu609Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346158C= | CA2047353187 | BBS10 | c.1827G= (p.Leu609=) | |
12 | g.76346158C>G | CA385809730 | BBS10 | c.1827G>C (p.Leu609Phe) | |
12 | g.76346158C>T | CA481010837 | BBS10 | c.1827G>A (p.Leu609=) | ClinVar dbSNP gnomAD v4 |
12 | g.76346159A= | CA2047353188 | BBS10 | c.1826T= (p.Leu609=) | |
12 | g.76346159A>C | CA385809737 | BBS10 | c.1826T>G (p.Leu609Trp) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.76346159A>G | CA385809740 | BBS10 | c.1826T>C (p.Leu609Ser) | ClinVar gnomAD v4 |
12 | g.76346159A>T | CA385809735 | BBS10 | c.1826T>A (p.Leu609Ter) | |
12 | g.76346160A>C | CA385809743 | BBS10 | c.1825T>G (p.Leu609Val) | |
12 | g.76346160A>G | CA481010845 | BBS10 | c.1825T>C (p.Leu609=) | ClinVar dbSNP gnomAD v4 |
12 | g.76346160A>T | CA385809746 | BBS10 | c.1825T>A (p.Leu609Met) | |
12 | g.76346161G>A | CA6694100 | BBS10 | c.1824C>T (p.Ile608=) | ClinVar dbSNP ExAC gnomAD v2 |
12 | g.76346161G>C | CA385809750 | BBS10 | c.1824C>G (p.Ile608Met) | |
12 | g.76346161G= | CA2047353189 | BBS10 | c.1824C= (p.Ile608=) | |
12 | g.76346161G>T | CA481010849 | BBS10 | c.1824C>A (p.Ile608=) | gnomAD v4 |
12 | g.76346162A>C | CA385809754 | BBS10 | c.1823T>G (p.Ile608Ser) | |
12 | g.76346162A>G | CA385809756 | BBS10 | c.1823T>C (p.Ile608Thr) | |
12 | g.76346162A>T | CA385809759 | BBS10 | c.1823T>A (p.Ile608Asn) | gnomAD v4 |
12 | g.76346163T>A | CA385809762 | BBS10 | c.1822A>T (p.Ile608Phe) | |
12 | g.76346163T>C | CA16606610 | BBS10 | c.1822A>G (p.Ile608Val) | ClinVar dbSNP gnomAD v4 |
12 | g.76346163T>G | CA385809767 | BBS10 | c.1822A>C (p.Ile608Leu) | |
12 | g.76346163T= | CA2047353190 | BBS10 | c.1822A= (p.Ile608=) | |
12 | g.76346164C>A | CA239331605 | BBS10 | c.1821G>T (p.Glu607Asp) | dbSNP |
12 | g.76346164C= | CA2047353191 | BBS10 | c.1821G= (p.Glu607=) | |
12 | g.76346164C>G | CA385809773 | BBS10 | c.1821G>C (p.Glu607Asp) | |
12 | g.76346164C>T | CA481010860 | BBS10 | c.1821G>A (p.Glu607=) | |
12 | g.76346165T>A | CA385809776 | BBS10 | c.1820A>T (p.Glu607Val) | |
12 | g.76346165T>C | CA385809778 | BBS10 | c.1820A>G (p.Glu607Gly) | |
12 | g.76346165T>G | CA385809782 | BBS10 | c.1820A>C (p.Glu607Ala) | |
12 | g.76346166C>A | CA385809795 | BBS10 | c.1819G>T (p.Glu607Ter) | |
12 | g.76346166C>G | CA385809790 | BBS10 | c.1819G>C (p.Glu607Gln) | |
12 | g.76346166C>T | CA385809787 | BBS10 | c.1819G>A (p.Glu607Lys) | |
12 | g.76346167A>C | CA385809799 | BBS10 | c.1818T>G (p.Phe606Leu) | |
12 | g.76346167A>G | CA481010868 | BBS10 | c.1818T>C (p.Phe606=) | |
12 | g.76346167A>T | CA385809802 | BBS10 | c.1818T>A (p.Phe606Leu) | |
12 | g.76346168A>C | CA385809806 | BBS10 | c.1817T>G (p.Phe606Cys) | |
12 | g.76346168A>G | CA385809808 | BBS10 | c.1817T>C (p.Phe606Ser) | |
12 | g.76346168A>T | CA385809812 | BBS10 | c.1817T>A (p.Phe606Tyr) | |
12 | g.76346169A>C | CA385809817 | BBS10 | c.1816T>G (p.Phe606Val) | |
12 | g.76346169A>G | CA385809819 | BBS10 | c.1816T>C (p.Phe606Leu) | |
12 | g.76346169A>T | CA385809826 | BBS10 | c.1816T>A (p.Phe606Ile) | |
12 | g.76346170A>C | CA385809828 | BBS10 | c.1815T>G (p.Asn605Lys) | |
12 | g.76346170A>G | CA481010875 | BBS10 | c.1815T>C (p.Asn605=) | gnomAD v4 |
12 | g.76346170A>T | CA385809831 | BBS10 | c.1815T>A (p.Asn605Lys) | |
12 | g.76346170_76346171del | CA2573148987 | BBS10 | c.1814_1815del (p.Asn605IlefsTer2) | ClinVar dbSNP |
12 | g.76346171T>A | CA385809832 | BBS10 | c.1814A>T (p.Asn605Ile) | |
12 | g.76346171T>C | CA385809833 | BBS10 | c.1814A>G (p.Asn605Ser) |