Exon deletions (n = 32)
| | |
Exon deletions (n = 11)
| | |
5 | 5 | Deletion exon 6 | 2 | 2 | Deletion exon 2 |
1 | 1 | Deletion exon 11 | 1 | 1 | Deletion exon 8 |
19 | 16 | Deletion exon 16 | 1 | 1 | Deletion exon 9 |
1 | 1 | Deletion exon 17 | 1 | 1 | Deletion exon 12 |
3 | 1 | Deletion exons 1–15 | 1 | 1 | Deletion exons 1–3 |
1 | 1 | Deletion exons 1–16 | 1 | 1 | Deletion exons 1–6† |
1 | 1 | Deletion exons 4–11 | 1 | 1 | Deletion exons 7–10 |
1 | 1 | Deletion exons 13–15 | 1 | 1 | Deletion exons 11–14 |
| | | 1 | 1 | Deletion exons 12–16 |
| | | 1 | 1 | Deletion exons 13–15 |
| | | | | |
Missense mutations (n = 20)
| | |
Missense mutations (n = 1)
| | |
2 | 1 | Met (35) Arg | 1 | 1 | Pro (349) Leu† |
5 | 2 | Ser (44) Phe | | | |
2 | 2 | Gly (67) Arg | | | |
1 | 1 | Ile (68) Asn | | | |
7 | 7 | Ile (107) Arg | | | |
1 | 1 | Thr (117) Met | | | |
1 | 1 | Arg (217) Cys | | | |
1 | 1 | Tyr (646) Cys† | | | |
| | | | | |
Nonsense mutations (n = 5)
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Nonsense mutations (n = 9)
| | |
1 | 1 | Arg (226) Stop† | 1 | 1 | Gln (298) Stop |
3 | 2 | Arg (659) Stop | 3 | 2 | Arg (406) Stop |
1 | 1 | Trp (714) Stop† | 1 | 1 | Gln (419) Stop |
| | | 1 | 1 | Leu (458) Stop |
| | | 1 | 1 | Met (621) Stop |
| | | 1 | 1 | Gly (759) Stop |
| | | 1 | 1 | Leu (811) Stop |
| | | | | |
Nucleotide deletions (n = 5)
| | |
Nucleotide deletions (n = 7)
| | |
1 | 1 | 63 Deletion G† | 1 | 1 | 67 Deletion G |
1 | 1 | 378 Deletion GC | 1 | 1 | 406 Deletion T |
1 | 1 | 665 Deletion A | 1 | 1 | 811 Deletion TCTG |
1 | 1 | 1852 Deletion AAG† | 1 | 1 | 2113 Deletion G† |
1 | 1 | 2179 Deletion CACA† | 1 | 1 | 2228 Deletion CATT |
| | | 1 | 1 | 2508 Deletion T |
| | | 1 | 1 | 2629 Deletion AG |
| | | | | |
Amino acid deletions (n = 2)
| | |
Amino acid deletions (n = 1)
| | |
2 | 2 | Deletion Lys (616) | 1 | 1 | Deletion Asn (596) |
| | | | | |
Nucleotide insertions (n = 3)
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Nucleotide insertions (n = 2)
| | |
1 | 1 | 861 Insertion A | 1 | 1 | 679 Insertion A |
1 | 1 | 1490 Insertion C | 1 | 1 | 688 Insertion A |
1 | 1 | 2198 Insertion AAAC† | | | |
| | | | | |
Splice site mutations (n = 10)
| | |
Splice site mutations (n = 3)
| | |
1 | 1 | IVS8+1 G→T‡ | 2 | 2 | IVS5+3 A→T§ |
2 | 2 | 454−1 G→A | 1 | 1 | 1759+2 T→A† |
1 | 1 | 546−1 G→A† | | | |
1 | 1 | 790+1 G→A† | | | |
1 | 1 | 790+1 G→T† | | | |
1 | 1 | 1668−1 G→T† | | | |
1 | 1 | 1989+4 Insertion C† | | | |
1 | 1 | 1989+5 G→C† | | | |
1 | 1 | 2103+1 G→T† | | | |
| | | | | |
| | |
Abnormal IHC (n = 45)§
| | |
| | | 45 | 45 | No expression |