Table 3. Analysis of 32 patients with Bardet-Biedl syndrome.
From the BBS dataset, mutations and ranking for 32 patients sequenced for 30 genes. The ranking for each mutation has been obtained from the “filteredVariants” output. Mutations in italics are predicted to affect splicing.
| Patient# | Gene | RefSeq | Mutation (cDNA) | Mutation (protein) | Ranking |
|---|---|---|---|---|---|
| P11 | BBS1 | NM_024649.4 | c.[436C>T];[436C>T] | p.[R146*];[R146*] | Rank 1 |
| ALD6a | c.[436C>T];[(592-?)_(830+?)del] | p.[R146*];[ ?] | Rank 1 | ||
| ALO47 | c.[479G>A];[479G>A] | p.[R160Q];[R160Q] | Rank 1 | ||
| AIO57 | c.[670G>A];[670G>A] | p.[E224K];[E224K] | Rank 1 | ||
| AMK19 | c.[951+1G>A];[1169T>G] | p.[?];[M390R] | Rank 1, Rank 2 | ||
| P9 | c.[1110G>A];[1110G>A] | p.[ ?];[ ?] | Rank 1 | ||
| AKH61 | c.[1169T>G];[1169T>G] | p.[M390R];[M390R] | Rank 1 | ||
| P1 | c.[1471+4G>A]; [1471+4G>A] | p.[?];[?] | Rank 2c | ||
| AHZ63b | c.[1473+4T>A];[=] | p.[?];[=] | Rank 1 | ||
| AGA99 | BBS2 | NM_031885.3 | c.[118-1G>C];[118-1G>C] | p.[ ?];[ ?] | Rank 1 |
| P2 | c.[345+5G>A];[345+5G>A] | p.[?];[?] | Rank 1 | ||
| P7 | c.[565C>T];[565C>T] | p.[R189*];[R189*] | Rank 1 | ||
| ALG76 | c.[626T>C];[626T>C] | p.[L209P];[L209P] | Rank 1 | ||
| AKX44 | c.[814C>T];[814C>T] | p.[R272*];[R272*] | Rank 1 | ||
| AGL23 | c.[1992delT];[1992delT] | p.[H665Tfs*675];[H665Tfs*675] | Rank 1 | ||
| P13 | BBS5 | NM_152384.2 | c.[149T>G];[149T>G] | p.[L50R];[L50R] | Rank 1 |
| ALG5 | c.[413G>A];[413G>A;] | p.[R138H];[R138H] | Rank 1 | ||
| AIZ46 | MKKS | NM_018848.3 | c.[3G>A];[110A>G] | p.[M1I];[Y37C] | Rank 1, Rank 2 |
| AIZ62 | c.[571G>T];[724G>T] | p.[E191*];[A242S] | Rank 1, Rank 2 | ||
| P10 | c.[1272+1G>A];[1272+1G>A] | p.[?];[?] | Rank 1 | ||
| ALB60 | BBS9 | NM_198428.2 | c.[855del];[855del] | p.[W285*];[W285*] | Rank 1 |
| ALS67 | BBS10 | NM_024685.3 | c.[271_272insT];[728_731delAAGA] | p.[C91Lfs*95];[K243Ifs*257] | Rank 1, Rank 2 |
| AMA70 | c.[271_272insT];[1201G>T] | p.[C91Lfs*95];[G401*] | Rank 1, Rank 2 | ||
| JSL | c.[285A>T];[2119-2120delGT] | p.[R95S];[V707*fs] | Rank 1, Rank 2 | ||
| P8 | c.[1181_1182insGCATTTAT];[1181_1182insGCATTTAT] | p.[S396Lfs*401];[S396Lfs*401] | Rank 1 | ||
| AMR64 | c.[1241T>C];[1241T>C] | p.[L414S];[L414S] | Rank 1 | ||
| AKR68 | c.[1241T>C];[1241T>C] | p.[L414S];[L414S] | Rank 2 | ||
| ALP79 | BBS12 | NM_001178007.1 | c.[865G>C];[205C>T(;)1859A>G] | p.[A289P];[L69F(;)Q620R] | Rank 1, Rank 2 |
| ALB64 | ALMS1 | NM_015120.4 | c.[1724C>G];[1724C>G] | p.[S575*];[S575*] | Rank 1 |
| AIA84 | c.[3340del];[3340del] | p.[E1112Rfs*1120];[E1112Rfs*1120] | Rank 1 | ||
| ADC44 | c.[7904insC];[7904insC] | p.[N2636Qfs*59];[N2636Qfs*59] | Rank 1 | ||
| AKO26 | c.[10879C>T];[10879C>T] | p.[R3627*];[R3627*] | Rank 1 |
Notes.
a
The second mutation of the patient, a complete heterozygous deletion of exon 8 and 9 (c.(592-?)_(830+?)del) is a pathogenic CNV that cannot be ranked by VaRank.
b
Parent of BBS patients, a single heterozygous mutations is expected.
c
This validated mutation was filtered out in the “filteredVariants” results due to low sequencing quality (only 7 reads supported the variant) but ranked at the second position in the non-filtered results.