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Exon 1
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1 | 194C>T | 65 | S65L | | 0 | 1 | 0 | | 1 |
2 | 194C>T | 65 | S65L | Rp | 1 | 3 | 1 | | 4 |
3 | 194C>T | 65 | S65L | Rp | 10 | 12 | 3 | | 12 |
4 | 217delC | 73 | Frameshift | Novel de novo? | 1 | 1 | 0 | | 1 |
5 | 226_228delTTC | 76 | F76del | Rp-Com | 3 | 2 | 0 | | 3 |
6 | 226_228delTTC | 76 | F76del | Rp-Com | 1 | 1 | 0 | | 1 |
7 | 226_228delTTC | 76 | F76del | Rp-Com | 1 | 2 | 0 | | 2 |
8 | 233A>G | 78 | N78S | Rp-Com de novo | 1 | 1 | 0 | | 1 |
9 | 233A>G | 78 | N78S | Rp-Com | 1 | 0 | 1 | | 2 |
10 | 233A>T | 78 | N78I | Novel | 4 | 3 | 1 | | 4 |
11 | 263_265delGGCinsTT | 88 | Frameshift | Novel | 1 | 1 | 0 | | 1 |
12 | 333C>G | 111 | S111R | Rp de novo? | 1 | 1 | 0 | | 1 |
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Exon 2
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13 | 445delG | 149 | Frameshift | Novel | 3 | 2 | 1 | | 3 |
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Exon 3
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14 | 477_478insCA | 160 | Frameshift | Novel | 1 | 1 | 0 | | 1 |
15 | 481C>T | 161 | R161X | Rp | 1 | 1 | 1 | | 1 |
16 | 485G>A | 162 | C162Y | Rp | 4 | 4 | 0 | | 5 |
17 | 500G>A | 167 | R167Q | Rp-Com | 1 | 0 | 0 | 1 | 1 |
18 | 500G>A | 167 | R167Q | Rp-Com | 7 | 6 | 0 | 2 | 8 |
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Large deletions
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19 / S 1 | Exon 1deletion | | 1 | 1 | 2 | | 2 |
20 / S 3 | Exon 2 deletion | | 1 | 4 | 0 | | 4 |
21 / S 2 | Exon 2 deletion | | 3 | 3 | 1 | | 3 |
22 / S 4 | Exons 2, 3 deletion | De novo | 1 | 0 | 0 | | 1 |
23 / S 5 | Exon 3 deletion | | 1 | 1 | 1 | | 1 |
24 | Exon 3 deletion (8.5 kb abnormal band on QSA)* | | 2 | 1 | 2 | | 2 |
25 | Exons 2, 3 deletion (11.5 kb abnormal band on QSA)* | | 2 | 1 | 2 | | 2 |
26 | Complete deletion* | | 0 | 2 | 0 | | 2 |
27 | Complete deletion* | | 1 | 2 | 0 | | 2 |
28 | Complete deletion | | 0 | 4 | 0 | | 4 |
29 | Complete deletion | | 0 | 2 | 0 | | 2 |
30 | Complete deletion | De novo? | 1 | 1 | 0 | | 1 |
31 | Not detected | | 0 | 2 | 0 | | 2 |
32 | Not detected | | 0 | 1 | 0 | | 1 |
33 | Not detected* | | 1 | 1 | 0 | | 1 |
34 | Not detected* | | 0 | 1 | 0 | | 1 |