Table 1 GAA variants detected in the patients sequenced by the MYO-SEQ project
Patient | Location | Reported | Polymorphism | Variant | Predicted deleteriousness | ClinVar clinical significance | ExAC v3 allele frequency | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
Chromosome | Coding | Protein | SIFT | PolyPhen-2 | MutationTaster2 | FATHMM | ||||||
10 | chr17:78,078,411 | c.26C > G | p.Ser9Cys | No | – | Missense | Damaging | Benign | Polymorphism | Damaging | No data | 0.00000 |
13 | chr17:78,078,484 | c.99 T > C | – | No | rs144736309 | Synonymous | No data | No data | No data | No data | No data | 0.00002 |
2 | chr17:78,078,671 | c.286A > G | p.Lys96Glu | No | – | Missense | Tolerated | Benign | Polymorphism | Tolerated | No data | 0.00001 |
28 | chr17:78,078,805 | c.420C > A | p.Asn140Lys | No | – | Missense | Tolerated | Benign | Polymorphism | Damaging | No data | 0.00002 |
18 and 32* | chr17:78,078,909 | c.525delT | p.Glu176ArgfsTer45 | Yes | – | Frameshift | No data | No data | No data | No data | Pathogenic | 0.00007 |
9 | chr17:78,078,930 | c.545C > G | p.Thr182Arg | No | rs200524747 | Missense | Tolerated | Benign | Disease-causing | Tolerated | No data | 0.00006 |
35* | chr17:78,079,570 | c.569G > A | p.Arg190His | Yes | – | Missense | Deleterious | Probably damaging | Disease-causing | Damaging | Likely pathogenic | 0.00001 |
31 | chr17:78,079,591 | c.590C > A | p.Thr197Asn | No | – | Missense | Tolerated | Benign | Polymorphism | Damaging | No data | 0.00001 |
24 | chr17:78,079,677 | c.676C > G | p.Leu226Val | No | rs113085339 | Missense | Tolerated | Benign | Polymorphism | Damaging | Likely benign; uncertain significance | 0.00070 |
15 | chr17:78,081,352 | c.693-4G > T | – | No | rs200088236 | Splice region | No data | No data | No data | No data | No data | 0.00031 |
30 | chr17:78,081,518 | c.855C > G | – | No | – | Synonymous | No data | No data | No data | No data | No data | 0.00000 |
14 | chr17:78,081,653 | c.913G > A | p.Gly305Arg | No | rs200154987 | Missense | Deleterious | Probably damaging | Disease-causing | Damaging | No data | 0.00025 |
12 and 34 | chr17:78,081,655 | c.915G > A | – | Yes | rs150343359 | Synonymous | No data | No data | No data | No data | Uncertain significance | 0.00113 |
16 | chr17:78,082,117 | c.984 T > C | – | No | – | Synonymous | No data | No data | No data | No data | No data | 0.00000 |
6 | chr17:78,082,180 | c.1047C > T | – | No | rs138262940 | Synonymous | No data | No data | No data | No data | No data | 0.00002 |
17* | chr17:78,082,399 | c.1192delC | p.Leu398TrpfsTer42 | No | – | Frameshift | No data | No data | No data | No data | No data | 0.00000 |
26 | chr17:78,083,737 | c.1327-7 T > G | – | No | – | Splice region | No data | No data | No data | No data | No data | 0.00001 |
21 | chr17:78,083,769 | c.1352C > G | p.Pro451Arg | No | rs7215458 | Missense | Tolerated | Possibly damaging | Disease-causing | Damaging | No data | 0.00043 |
21 | chr17:78,084,516 | c.1438-7_1438-5delTGT | – | No | – | Splice region | No data | No data | No data | No data | No data | 0.00002 |
25 | chr17:78,085,800 | c.1655 T > C | p.Leu552Pro | Yes | – | Missense | Deleterious | Probably damaging | Disease-causing | Damaging | No data | 0.00002 |
20 and 29 | chr17:78,086,452 | c.1830C > T | – | Yes | rs61736896 | Synonymous | No data | No data | No data | No data | No data | 0.00151 |
4 and 27 | chr17:78,086,706 | c.1920 T > G | – | Yes | rs144090460 | Synonymous | No data | No data | No data | No data | No data | 0.00032 |
35* | chr17:78,086,806 | c.2020C > G | p.His674Asp | No | – | Missense | Deleterious | Probably damaging | Disease-causing | Damaging | No data | 0.00000 |
8* | chr17:78,087,027 | c.2051C > G | p.Pro684Arg | No | – | Missense | Deleterious | Probably damaging | Disease-causing | Damaging | No data | 0.00000 |
5* | chr17:78,087,039 | c.2066_2070dupAGCCG | p.Ala691SerfsTer7 | Yes | – | Frameshift | No data | No data | No data | No data | No data | 0.00000 |
19 | chr17:78,087,046 | c.2070G > A | – | No | – | Synonymous | No data | No data | No data | No data | No data | 0.00003 |
33 | chr17:78,087,131 | c.2155G > A | p.Ala719Thr | No | – | Missense | Tolerated | Benign | Polymorphism | Damaging | No data | 0.00004 |
1 | chr17:78,087,133 | c.2157G > A | – | No | rs201523530 | Synonymous | No data | No data | No data | No data | Uncertain significance | 0.00014 |
7* | chr17:78,090,846 | c.2269C > T | p.Gln757Ter | Yes | rs200483245 | Stop gained | No data | No data | No data | No data | No data | 0.00000 |
23 | chr17:78,090,907 | c.2330C > T | p.Thr777Met | No | – | Missense | Tolerated | Benign | Polymorphism | Damaging | No data | 0.00002 |
3* | chr17:78,090,910 | c.2331 + 2 T > A | – | Yes | – | Splice donor | No data | No data | No data | No data | No data | 0.00000 |
11 | chr17:78,091,525 | c.2458G > T | p.Ala820Ser | No | – | Missense | Tolerated | Benign | Polymorphism | Damaging | No data | 0.00002 |
17* | chr17:78,092,521 | c.2716G > A | p.Val906Ile | No | – | Missense | Tolerated | Benign | Disease-causing | Damaging | No data | 0.00000 |
22 | chr17:78,092,562 | c.2757C > T | – | No | – | Synonymous | No data | No data | No data | No data | No data | 0.00005 |
3, 5, 7, 8, 18, 32 | chr17:78,078,341 | c.-32-13 T > G | – | Yes | – | Intronic | No data | No data | No data | No data | No data | 0.00360 |