Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
12 | g.76346067T= | CA2047353143 | BBS10 | c.1918A= (p.Ile640=) | |
12 | g.76346068G>A | CA481011121 | BBS10 | c.1917C>T (p.Gly639=) | |
12 | g.76346068G>C | CA6694085 | BBS10 | c.1917C>G (p.Gly639=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76346068G= | CA2047353144 | BBS10 | c.1917C= (p.Gly639=) | |
12 | g.76346068G>T | CA481011126 | BBS10 | c.1917C>A (p.Gly639=) | |
12 | g.76346069C>A | CA385809046 | BBS10 | c.1916G>T (p.Gly639Val) | |
12 | g.76346069C>G | CA385809041 | BBS10 | c.1916G>C (p.Gly639Ala) | |
12 | g.76346069C>T | CA385809044 | BBS10 | c.1916G>A (p.Gly639Asp) | gnomAD v4 |
12 | g.76346070C>A | CA385809048 | BBS10 | c.1915G>T (p.Gly639Cys) | |
12 | g.76346070C= | CA2047353145 | BBS10 | c.1915G= (p.Gly639=) | |
12 | g.76346070C>G | CA385809051 | BBS10 | c.1915G>C (p.Gly639Arg) | |
12 | g.76346070C>T | CA385809052 | BBS10 | c.1915G>A (p.Gly639Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.76346071_76346079del | CA2796591352 | BBS10 | c.1907_1915del (p.Ala636_Leu638del) | |
12 | g.76346071T>A | CA385809056 | BBS10 | c.1914A>T (p.Leu638Phe) | |
12 | g.76346071T>C | CA481011134 | BBS10 | c.1914A>G (p.Leu638=) | |
12 | g.76346071T>G | CA385809058 | BBS10 | c.1914A>C (p.Leu638Phe) | |
12 | g.76346072A= | CA2047353146 | BBS10 | c.1913T= (p.Leu638=) | |
12 | g.76346072A>C | CA385809065 | BBS10 | c.1913T>G (p.Leu638Ter) | |
12 | g.76346072A>G | CA385809060 | BBS10 | c.1913T>C (p.Leu638Ser) | dbSNP |
12 | g.76346072A>T | CA385809063 | BBS10 | c.1913T>A (p.Leu638Ter) | |
12 | g.76346073A= | CA2047353147 | BBS10 | c.1912T= (p.Leu638=) | |
12 | g.76346073A>C | CA385809068 | BBS10 | c.1912T>G (p.Leu638Val) | gnomAD v4 |
12 | g.76346073A>G | CA481011136 | BBS10 | c.1912T>C (p.Leu638=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.76346073A>T | CA385809069 | BBS10 | c.1912T>A (p.Leu638Ile) | |
12 | g.76346074A>C | CA481011142 | BBS10 | c.1911T>G (p.Leu637=) | |
12 | g.76346074A>G | CA481011140 | BBS10 | c.1911T>C (p.Leu637=) | |
12 | g.76346074A>T | CA481011138 | BBS10 | c.1911T>A (p.Leu637=) | |
12 | g.76346075A= | CA2047353148 | BBS10 | c.1910T= (p.Leu637=) |