Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.76346053A>C | CA481011077 | BBS10 | c.1932T>G (p.Leu644=) | |
12 | g.76346053A>G | CA481011078 | BBS10 | c.1932T>C (p.Leu644=) | |
12 | g.76346053A>T | CA481011079 | BBS10 | c.1932T>A (p.Leu644=) | |
12 | g.76346054A>C | CA385808958 | BBS10 | c.1931T>G (p.Leu644Arg) | |
12 | g.76346054A>G | CA385808954 | BBS10 | c.1931T>C (p.Leu644Pro) | |
12 | g.76346054A>T | CA385808952 | BBS10 | c.1931T>A (p.Leu644His) | |
12 | g.76346055G>A | CA385808963 | BBS10 | c.1930C>T (p.Leu644Phe) | ClinVar gnomAD v4 |
12 | g.76346055G>C | CA385808961 | BBS10 | c.1930C>G (p.Leu644Val) | gnomAD v4 |
12 | g.76346055G>T | CA385808967 | BBS10 | c.1930C>A (p.Leu644Ile) | |
12 | g.76346056G>A | CA6694080 | BBS10 | c.1929C>T (p.Val643=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76346056G>C | CA481011085 | BBS10 | c.1929C>G (p.Val643=) | |
12 | g.76346056G= | CA2047353138 | BBS10 | c.1929C= (p.Val643=) | |
12 | g.76346056G>T | CA481011087 | BBS10 | c.1929C>A (p.Val643=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.76346057A= | CA2047353139 | BBS10 | c.1928T= (p.Val643=) | |
12 | g.76346057A>C | CA385808972 | BBS10 | c.1928T>G (p.Val643Gly) | |
12 | g.76346057A>G | CA385808976 | BBS10 | c.1928T>C (p.Val643Ala) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.76346057A>T | CA385808978 | BBS10 | c.1928T>A (p.Val643Asp) | |
12 | g.76346058C>A | CA385808979 | BBS10 | c.1927G>T (p.Val643Phe) | |
12 | g.76346058C= | CA2047353140 | BBS10 | c.1927G= (p.Val643=) | |
12 | g.76346058C>G | CA385808980 | BBS10 | c.1927G>C (p.Val643Leu) | |
12 | g.76346058C>T | CA6694081 | BBS10 | c.1927G>A (p.Val643Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346059T>A | CA385808982 | BBS10 | c.1926A>T (p.Lys642Asn) | |
12 | g.76346059T>C | CA481011100 | BBS10 | c.1926A>G (p.Lys642=) | |
12 | g.76346059T>G | CA385808983 | BBS10 | c.1926A>C (p.Lys642Asn) | |
12 | g.76346060T>A | CA385808987 | BBS10 | c.1925A>T (p.Lys642Ile) | |
12 | g.76346060T>C | CA6694082 | BBS10 | c.1925A>G (p.Lys642Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346060T>G | CA385808990 | BBS10 | c.1925A>C (p.Lys642Thr) | |
12 | g.76346060T= | CA2047353141 | BBS10 | c.1925A= (p.Lys642=) | |
12 | g.76346061T>A | CA385808995 | BBS10 | c.1924A>T (p.Lys642Ter) | |
12 | g.76346061T>C | CA385808996 | BBS10 | c.1924A>G (p.Lys642Glu) | |
12 | g.76346061T>G | CA385808993 | BBS10 | c.1924A>C (p.Lys642Gln) | |
12 | g.76346062G>A | CA6694083 | BBS10 | c.1923C>T (p.Pro641=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346062G>C | CA481011107 | BBS10 | c.1923C>G (p.Pro641=) | dbSNP |
12 | g.76346062G= | CA2047353142 | BBS10 | c.1923C= (p.Pro641=) | |
12 | g.76346062G>T | CA481011108 | BBS10 | c.1923C>A (p.Pro641=) | |
12 | g.76346063G>A | CA385809001 | BBS10 | c.1922C>T (p.Pro641Leu) | gnomAD v4 |
12 | g.76346063G>C | CA385809003 | BBS10 | c.1922C>G (p.Pro641Arg) | |
12 | g.76346063G>T | CA385809006 | BBS10 | c.1922C>A (p.Pro641His) | |
12 | g.76346064G>A | CA385809014 | BBS10 | c.1921C>T (p.Pro641Ser) | |
12 | g.76346064G>C | CA385809011 | BBS10 | c.1921C>G (p.Pro641Ala) | |
12 | g.76346064G>T | CA385809009 | BBS10 | c.1921C>A (p.Pro641Thr) | gnomAD v4 |
12 | g.76346065A>C | CA385809018 | BBS10 | c.1920T>G (p.Ile640Met) | |
12 | g.76346065A>G | CA481011114 | BBS10 | c.1920T>C (p.Ile640=) | |
12 | g.76346065A>T | CA481011115 | BBS10 | c.1920T>A (p.Ile640=) | gnomAD v4 |
12 | g.76346066A>C | CA385809020 | BBS10 | c.1919T>G (p.Ile640Ser) | |
12 | g.76346066A>G | CA385809023 | BBS10 | c.1919T>C (p.Ile640Thr) | |
12 | g.76346066A>T | CA385809025 | BBS10 | c.1919T>A (p.Ile640Asn) | |
12 | g.76346067T>A | CA385809030 | BBS10 | c.1918A>T (p.Ile640Phe) | COSMIC |
12 | g.76346067T>C | CA6694084 | BBS10 | c.1918A>G (p.Ile640Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346067T>G | CA385809034 | BBS10 | c.1918A>C (p.Ile640Leu) | gnomAD v4 |