Spreadsheet: 29368d31-53fd-4ac7-857c-9e3d17c41ebb
Sheet: Sheet1

No. | EXON | VARIANT | OFFICIAL NAME | Heterozygous patients | Homozygous patients | Co-segregation | CONSERVATION (number of species) | EFFECTS ON ESE | SPLICING CHANGES | PREDICTED EFFECTS (Polyphen / Sift) | FREQUENCY IN CONTROL CHROMOSOMES | Unnamed: 12 | CONCLUSION
 |  |  |  |  |  |  |  |  |  |  | Caucasians (%) | North-Africans (%)
1 | 2 | c.[80_83del4;79_84ins22], p.R27LfsX3 | - | 0 | 1 AR | yes (2 patients) |  | possible | no | premature stop codon | 0 | 0 | loss of function mutation
2 | 3 | c.281C>G, p.S94C | rs11549840 | 6 spo, 2 AR and 3 AD | 1 spo | yes in one family (2 patients) | mild (16/22) | possible | no | _ / tolerated | 5 | not examined | polymorphism
3 | 3 | c.333G>C, p.Q111H | rs365671 | 6 spo, 2 AR and 3 AD | 1 spo | yes in one family (2 patients) | mild (14/24) | possible | no | possibly damaging / tolerated | 4 | 0 | polymorphism
4 | 3 | c.328C>T, p.R110W | - | 1 AR (only one variant heterozygous in this family) | 0 | not possible | mild (4/7) | possible | no | probably damaging / affects function (low score) | 0 | 0 | variant of unknown function
5 | 4 | c.481G>A, p.V161M | - | 1 spo | 0 | not possible | no (8/24) | no | no | benign / _ | 0.6 | not examined | likely a polymorphism
6 | 6 | c.759C>T, p.S253S | rs17135121 | 8 spo, 3 AR and 13 AD | 3 AR | not examined |  | possible | no |  | 13 | 43% in dbSNP | polymorphism
7 | 7 | c.881G>A, p.R294Q | - | 1 spo and 1 AD | 0 | not possible | yes (23/25) | possible | no | possibly damaging / affects function (low) | 0.5 | not examined | variant of unknown function
8 | 9 | c.1124T>A, p.L375Q | rs11772411 | 7 spo, 7 AR, 5AD | 1 AR | not examined | yes (22/23) | possible | new potential splice site | possibly damaging / affects function (low score) | 6 | not examined | polymorphism
9 | 9 | c.1131C>T, p.H377H | [NAME] | 7 spo, 7 AR, 5AD | 1 AR | not examined |  | possible | no |  | 6 | 10 | polymorphism
10 | 9 | c.1062C>T, p.H354H | - | 2 spo | 0 | not possible |  | possible | no |  | 0 | not examined | likely a polymorphism
11 | 10 | c.1197G>A, p.E399E | - | 3 spo, 1 AR and 3 AD | 1 spo | not examined |  | no | no |  | 2.3 | not examined | polymorphism
12 | 11 | c.1377C>T, p.D459D | rs17135128 | 4 spo, 3 AR and 5 AD | 2 AR | not examined |  | no | no |  | not examined | 4 | polymorphism
13 | 11 | c.[1413_1426delGGACCTGCCCTGCT], p.L471LfsX56 | - | 1 spo (only one variant heterozygous in this patient) | 0 | not possible |  | possible | no | premature stop codon | 0 | 0 | loss of function mutation
14 | 12 | c.1505C>T, p.A502V | - | 1 AD | 0 | not possible | no (3/7) | possible | no | benign / tolerated | 0 | not examined | polymorphism
15 | 12 | c.1529G>A, p.R510Q | - | 3 spo, 2AR and 5 AD | 1 spo | yes in 2 families (2x2 patients) | yes (23/25) | possible | no | benign / tolerated | 2.2 | not examined | likely a polymorphism
16 | 12 | [NAME]T, p.F518F | - | 1 AR | 0 | not possible |  | no | no |  | 0 | not examined | likely a polymorphism
17 | 12 | c.1573A>C, p.K525Q | - | 1 spo | 0 | not possible | mild (4/7) | possible | new potential acceptor site | benign / tolerated | 0 | not examined | variant of unknown function
18 | 12 | c.1473C>G, p.S491S | - | 0 | 1 AR | yes (2 patients) |  | possible | no |  | 0 | not examined | likely a polymorphism
19 | 16 | c.2013 C>T, p.F671F | - | 3 spo | 0 | not examined |  | no | no |  | 0 | 0 | polymorphism
20 | 16 | c.2098G>A, p.V700M | rs11766611 | 3 spo and 3 AD | 0 | not examined | mild (13/26) | possible | no | benign / tolerated | 1 | 8 | polymorphism
21 | 17 | c.2418A>G, p.P788P | - | 1 AD | 0 | not possible |  | possible | no |  | 0 | 0 | likely a polymorphism
22 | 17 | c.2379G>T, p.T793T | - | 5 spo and 1 AR | 2 AR and 1 spo | no cosegregation in one family |  | possible | no |  | 4 | 4 | polymorphism
AR - autosomal recessive
AD - autosomal dominant
spo - sporadic cases
ESE - Exonic splicing enhancers
n/a - not applicable
dbSNP - single nucleotide polymorphisms database at http://www.ncbi.nlm.nih.gov/projects/SNP