Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.76346224C>A | CA385810052 | BBS10 | c.1761G>T (p.Gln587His) | |
12 | g.76346224C>G | CA385810055 | BBS10 | c.1761G>C (p.Gln587His) | |
12 | g.76346224C>T | CA481011026 | BBS10 | c.1761G>A (p.Gln587=) | |
12 | g.76346225T>A | CA385810058 | BBS10 | c.1760A>T (p.Gln587Leu) | |
12 | g.76346225T>C | CA385810066 | BBS10 | c.1760A>G (p.Gln587Arg) | dbSNP |
12 | g.76346225T>G | CA385810071 | BBS10 | c.1760A>C (p.Gln587Pro) | |
12 | g.76346225T= | CA2047353210 | BBS10 | c.1760A= (p.Gln587=) | |
12 | g.76346226G>A | CA385810073 | BBS10 | c.1759C>T (p.Gln587Ter) | |
12 | g.76346226G>C | CA385810076 | BBS10 | c.1759C>G (p.Gln587Glu) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.76346226G= | CA2047353211 | BBS10 | c.1759C= (p.Gln587=) | |
12 | g.76346226G>T | CA385810080 | BBS10 | c.1759C>A (p.Gln587Lys) | COSMIC |
12 | g.76346228del | CA2619945591 | BBS10 | c.1759del (p.Gln587ArgfsTer16) | gnomAD v4 |
12 | g.76346227G>A | CA6694109 | BBS10 | c.1758C>T (p.Ser586=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346227G>C | CA481011033 | BBS10 | c.1758C>G (p.Ser586=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.76346227G= | CA2047353212 | BBS10 | c.1758C= (p.Ser586=) | |
12 | g.76346227G>T | CA481011031 | BBS10 | c.1758C>A (p.Ser586=) | |
12 | g.76346228G>A | CA385810088 | BBS10 | c.1757C>T (p.Ser586Phe) | dbSNP gnomAD v2 |
12 | g.76346228G>C | CA385810090 | BBS10 | c.1757C>G (p.Ser586Cys) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.76346228G= | CA2047353213 | BBS10 | c.1757C= (p.Ser586=) | |
12 | g.76346228G>T | CA385810094 | BBS10 | c.1757C>A (p.Ser586Tyr) | |
12 | g.76346229A>C | CA385810104 | BBS10 | c.1756T>G (p.Ser586Ala) | |
12 | g.76346229A>G | CA385810102 | BBS10 | c.1756T>C (p.Ser586Pro) | |
12 | g.76346229A>T | CA385810099 | BBS10 | c.1756T>A (p.Ser586Thr) | |
12 | g.76346230A>C | CA481011036 | BBS10 | c.1755T>G (p.Thr585=) | COSMIC |
12 | g.76346230A>G | CA481011038 | BBS10 | c.1755T>C (p.Thr585=) | |
12 | g.76346230A>T | CA481011040 | BBS10 | c.1755T>A (p.Thr585=) | |
12 | g.76346231G>A | CA385810108 | BBS10 | c.1754C>T (p.Thr585Ile) | gnomAD v4 |
12 | g.76346231G>C | CA385810110 | BBS10 | c.1754C>G (p.Thr585Ser) | dbSNP |
12 | g.76346231G= | CA2047353214 | BBS10 | c.1754C= (p.Thr585=) | |
12 | g.76346231G>T | CA385810112 | BBS10 | c.1754C>A (p.Thr585Asn) | |
12 | g.76346232T>A | CA385810116 | BBS10 | c.1753A>T (p.Thr585Ser) | |
12 | g.76346232T>C | CA385810117 | BBS10 | c.1753A>G (p.Thr585Ala) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.76346232T>G | CA385810128 | BBS10 | c.1753A>C (p.Thr585Pro) | |
12 | g.76346232T= | CA2047353215 | BBS10 | c.1753A= (p.Thr585=) | |
12 | g.76346233A= | CA2047353216 | BBS10 | c.1752T= (p.Gly584=) | |
12 | g.76346233A>C | CA481011041 | BBS10 | c.1752T>G (p.Gly584=) | |
12 | g.76346233A>G | CA481011042 | BBS10 | c.1752T>C (p.Gly584=) | |
12 | g.76346233A>T | CA481011043 | BBS10 | c.1752T>A (p.Gly584=) | dbSNP |
12 | g.76346234C>A | CA385810131 | BBS10 | c.1751G>T (p.Gly584Val) | |
12 | g.76346234C= | CA2047353217 | BBS10 | c.1751G= (p.Gly584=) | |
12 | g.76346234C>G | CA385810133 | BBS10 | c.1751G>C (p.Gly584Ala) | |
12 | g.76346234C>T | CA385810138 | BBS10 | c.1751G>A (p.Gly584Asp) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.76346235C>A | CA385810144 | BBS10 | c.1750G>T (p.Gly584Cys) | |
12 | g.76346235C= | CA2047353218 | BBS10 | c.1750G= (p.Gly584=) | |
12 | g.76346235C>G | CA385810146 | BBS10 | c.1750G>C (p.Gly584Arg) | |
12 | g.76346235C>T | CA6694110 | BBS10 | c.1750G>A (p.Gly584Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346236C>A | CA385810154 | BBS10 | c.1749G>T (p.Met583Ile) | |
12 | g.76346236C>G | CA385810151 | BBS10 | c.1749G>C (p.Met583Ile) | |
12 | g.76346236C>T | CA385810153 | BBS10 | c.1749G>A (p.Met583Ile) | |
12 | g.76346237A>C | CA385810156 | BBS10 | c.1748T>G (p.Met583Arg) |