| Small deletions in the FVIII Gene (50bp or less) |
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| 8 May 12 |
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IDs removed July 2011 |
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| Please
note that codon/aminoacid numbering given below is for the mature processed
protein, as used almost universally in FVIII studies. |
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| To
convert to HGVS-type aminoacid numbering (where initiator Met =+1) add 20 to
negative numbers below and 19 to positive numbers: |
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|
| e.g.
codon -19 becomes codon +1 but codon +3 becomes codon +22. |
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| Nucleotide
numbering where given should conform to the convention that "A" in
initiation codon ATG = +1 (often 109 has been
subtracted) |
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| Recommended
syntax for sequence variations may be seen at |
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| http://www.genomic.unimelb.edu.au/mdi/mutnomen/ |
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| Exon/Intron |
Codons |
Size in bp (nucleotides deleted) |
FVIII:C U/dl |
FVIII:Ag U/dl |
Severity |
Inhibitor |
Comments |
References |
Date added to HADB |
| Exon 1 |
-6 |
1 (T) |
<1 |
? |
Severe |
No |
Frameshift |
Gallardo et al (unpublished) |
Aug-03 |
| Exon 1 |
21 |
1 (C) |
? |
? |
Severe |
Yes |
Frameshift |
Lillicrap et al (unpublished) |
Oct-02 |
| Exon 2 |
39 |
1 |
<1 |
<1 |
Severe |
Yes |
Frameshift |
Ljung et al (unpublished) |
Oct-99 |
| Exon 2 |
48 |
2 (AA) |
<1 |
? |
Severe |
No |
Frameshift |
Lin et al (1993) |
Dec-93 |
| Exon 2 |
49-50 |
6 (ACTCTG) |
<1 |
<1 |
Severe |
No |
in frame del Thr49 & Leu50 |
Ivaskevicius et al (2001); Leuer et al (2001) |
Aug-01 |
| Exon 2 |
50 |
c.205_206delCT p.L50fsX13 |
<1 |
? |
Severe |
No |
Frameshift |
Riccardi et al (unpublished) |
Nov-05 |
| Exon 2 |
50 |
c.205_206delCT p.L50fsX13 |
<1 |
? |
Severe |
No |
Frameshift |
Bogdanova et al (2005B) |
Jul-06 |
| Exon 2 |
50-51/51-52 |
4 in nt 206-212 (TGTTTGT) |
<1 |
? |
Severe |
No |
Frameshift |
Becker et al (1996) |
Aug-96 |
| Exon 2 |
50-51/51-52 |
4 in nt 206-212 (TGTTTGT) |
1 |
? |
Severe |
No |
Frameshift |
Lillicrap et al (unpublished) |
Oct-02 |
| Exon 2 |
50-51/51-52 |
4 in nt 206-212 (TGTTTGT) |
<1 |
<1 |
Severe |
No |
Frameshift |
Liu et al (1998) |
May-99 |
| Exon 2 |
50-51/51-52 |
4 in nt 206-212 (TGTTTGT) |
<1 |
? |
Severe |
Yes |
Frameshift |
Are et al (unpublished) |
Feb-00 |
| Exon 2 |
50-51/51-52 |
4 in nt 206-212 (TGTTTGT) |
<1 |
? |
Severe |
No |
Frameshift |
Vidal et al (2001) |
Aug-01 |
| Exon 2 |
50-51/51-52 |
4 in nt 206-212 (TGTTTGT) |
<1 |
? |
? |
No |
Frameshift |
Habart et al (2003) |
Aug-05 |
| Exon 2 |
50-51/51-52 |
4 in nt 206-212 (TGTTTGT) |
? |
? |
Severe |
? |
Frameshift |
Leuer et al (2001) |
Jul-07 |
| Exon 2 |
50-51/51-52 |
4 in nt 206-212 (TGTTTGT) |
<1 |
<1 |
Severe |
Yes |
Frameshift |
Ljung et al (unpublished) |
Jul-07 |
| Exon 2 |
56 |
c.224delA p.D56fsX17 |
<1 |
? |
Severe |
No |
Frameshift |
Riccardi et al (unpublished) |
Nov-05 |
| Exon 2 |
65-66 |
6 (AGGCCA) |
<1 |
? |
Severe |
No |
In frame del of Arg65-Pro66 |
Liu et al (2002) |
Mar-02 |
| Exon 2 |
66 |
3 (CCA) |
2 |
6 |
Moderate |
No |
In frame deletion of Pro66 |
Liu et al (2002) |
Mar-02 |
| Exon 3 |
71 |
1 (CTG>CT) |
<1 |
? |
Severe |
No |
Frameshift |
Goodeve et al (2000) |
Feb-01 |
| Exon 3 |
101 |
1 (T) |
<1 |
<1 |
Severe |
No |
Frameshift |
Liu et al (1998) |
May-99 |
| Exon 3 |
103 |
2 (GT) |
<1 |
? |
Severe |
No |
Frameshift |
Seehafer et al (unpublished) |
Dec-93 |
| Exon 8 |
103 |
del G ins TT (GT>TTT) nt 358-9 |
<1 |
? |
? |
No |
Indel Frameshift |
Habart et al (2003) |
Aug-05 |
| Ex 3/Int 3 |
104-111 |
23 |
? |
? |
Severe |
? |
Incl IVS3 donor splice site |
Higuchi et al (1991b) |
Dec-91 |
| Exon 4 |
154-156 |
5(TACCT) |
<1 |
? |
Severe |
? |
Frameshift |
Bidichandani et al (1994B) |
Dec-94 |
| Exon 4 |
167-168 |
3 (ACT) |
<1 |
? |
Severe |
No |
in frame del Asp-Leu ins Val |
Fernandez-Lopez et al (2005) |
Jul-07 |
| Exon 5 |
191 |
1 |
<1 |
<1 |
Severe |
No |
Frameshift |
Ljung et al (unpublished) |
Oct-99 |
| Exon 5 |
193 |
1 (C636) |
<1 |
? |
Severe |
No |
Frameshift |
Theophilus et al (2001) |
Aug-01 |
| Exon 5 |
198 |
T650-654Del (adjusted numbering) |
? |
? |
Severe |
No |
Frameshift |
Bicocchi et al (2005B) |
Nov-05 |
| Exon 5 |
203-205 |
11 (6 in exon 5, 5 in intron 5) |
<1 |
? |
Severe |
No |
Frameshift |
Are et al (unpublished) |
Feb-00 |
| Intron 5 |
NA |
12 (actctatctttg) |
12 |
? |
Mild |
No |
Splice error? |
Gallardo et al (unpublished) |
Nov-06 |
| Exon 6 |
210-211 |
2 (AG) |
<1 |
? |
Severe |
No |
Frameshift |
Lin et al (1993) |
Dec-93 |
| Exon 6 |
212-213 |
4 (AAAG) c.693-6 |
<1 |
? |
Severe |
No |
Frameshift |
Bogdanova et al (2002, 2005) |
Dec-02 |
| Exon 6 |
224 |
1 (TCT>TC) |
1 |
? |
Severe |
No |
Frameshift |
Goodeve et al (2000) |
Feb-01 |
| Exon 6 |
233 |
2 (CA) c.755-756 |
<1 |
? |
Severe |
No |
Frameshift |
Bogdanova et al (2002, 2005) |
Dec-02 |
| Exon 6 |
233 |
2 (CA) c.755-756 Thr>fs (TGA-264) |
<1 |
? |
Severe |
No |
Frameshift |
Jayandharan et al (2005) |
Aug-07 |
| Exon 7 |
264 |
1 (T) |
<1 |
? |
Severe |
No |
Frameshift |
Seehafer et al (unpublished) |
Dec-93 |
| Exon 7 |
283 |
1 (G) |
<1 |
? |
Severe |
? |
Frameshift |
Becker et al (1996) |
Aug-96 |
| Exon 7 |
293 |
c.935delT p.F293SfsX8 |
<1 |
? |
Severe |
No |
Frameshift |
Riccardi et al (unpublished) |
Oct-06 |
| Exon 7 |
296 |
1 (G) |
? |
? |
Severe |
? |
Frameshift |
Antonarakis et al (unpublished) |
Dec-94 |
| Exon 7 |
299 |
2 in nt 952-53 (CT) |
2.5 |
? |
Moderate |
No |
Frameshift |
Ljung et al (unpublished) |
Jul-07 |
| Exon 7 |
299 |
2 in nt 952-53 (CT) |
<1 |
<1 |
Severe |
No |
Frameshift |
Ljung et al (unpublished) |
Jul-07 |
| Exon 7 |
300 |
3 (957-959delGAT) |
<1 |
? |
Severe |
? |
Deletes M301 |
Bicocchi et al (2003) |
Aug-04 |
| Exon 7 |
301 |
3 (ATG) |
<1 |
? |
Severe |
No |
In-frame del Met 301 |
Tagariello et al (2000) |
Jan-98 |
| Exon 7 |
306 |
2 (TT) |
<1 |
? |
Severe |
? |
Frameshift |
Habart et al (2003) |
Aug-05 |
| Exon 7 |
312 |
2 (AT) nt 991 |
4.5, 0.5 |
? |
? |
? |
Frameshift |
Liu et al (1997); Zhang et al (1999) |
Apr-99 |
| Exon 8 |
322 |
1 (T) |
<1 |
? |
? |
? |
Frameshift |
Chan et al (1996) |
Dec-96 |
| Exon 8 |
339-342 |
12(AATAATGAAGAA) |
? |
? |
Severe |
? |
Deletes Asn Asn Glu Glu |
Gitschier et al (unpublished) |
Dec-93 |
| Exon 8 |
339-342 |
12(AATAATGAAGAA) |
? |
? |
Severe |
? |
Deletes Asn Asn Glu Glu |
Kazazian et al (unpublished) |
Dec-93 |
| Exon 8 |
340-341 |
4(AATG) |
? |
? |
Severe |
No |
Frameshift |
Kogan & Gitschier (1990) |
Dec-90 |
| Exon 8 |
341 |
2(GA) |
? |
? |
Severe |
? |
Frameshift |
Higuchi et al (1990) |
Dec-90 |
| Exon 8 |
381-382 |
2 (TT) |
<1 |
? |
Severe |
No |
Frameshift |
Becker et al (1996) |
Aug-96 |
| Exon 8 |
388 |
1 (C) |
2 |
? |
Moderate |
No |
Frameshift |
Gallardo et al (unpublished) |
Aug-03 |
| Exon 8 |
388 |
1 (C) |
carrier |
? |
carrier |
carrier |
carrier |
Gallardo et al (unpublished) |
Nov-06 |
| Exon 8 |
390-391 |
3 (AGG) |
<1 |
? |
? |
? |
Deletes Glu 390 |
Chan et al (1996) |
Dec-96 |
| Exon 8 |
403-405 |
5 (TGACA) |
<1 |
? |
Severe |
No |
Frameshift |
Liu et al (2002) |
Mar-02 |
| Exon 9 |
412 |
1 (G) |
<1 |
? |
Severe |
No |
Frameshift |
Lin et al (1993) |
Dec-93 |
| Exon 9 |
418 |
1 (G) |
<1 |
? |
? |
Yes |
Frameshift |
Habart et al (2003) |
Aug-05 |
| Exon 9 |
423 |
1 (C) |
1 |
? |
Severe |
No |
Frameshift |
Gallardo et al (unpublished) |
Aug-03 |
| Exon 9 |
424/5 |
1 (A) in run of 6 As |
<1 |
? |
Severe |
Yes transient |
Frameshift |
Freson et al (1998) |
Apr-99 |
| Exon 9 |
424/5 |
1 (A) in run of 6 As |
? |
? |
Severe |
No |
Frameshift |
Lillicrap et al (unpublished) |
Oct-02 |
| Exon 9 |
424/5 |
1 (A) in run of 6 As |
? |
? |
Severe |
No |
Frameshift |
Lillicrap et al (unpublished) |
Oct-02 |
| Exon 9 |
426 |
2 (AA) |
<1 |
? |
Severe |
? |
Frameshift |
Maugard et al (1998) |
Dec-98 |
| Exon 9 |
427 |
1 (A) |
<1 |
<1 |
Severe |
Yes |
Frameshift |
Arnold et al (unpublished) |
Jul-06 |
| Exon 9 |
451-3 |
4 (TTTA) |
<1 |
? |
Severe |
No |
Frameshift |
Goodeve et al (2000) |
Feb-01 |
| Exon 9 |
461 |
2 in nt 1439-40 (CT) |
<1 |
<1 |
Severe |
No |
Frameshift |
Ljung et al (unpublished) |
Jul-07 |
| Exon 10 |
474 |
N474fs c.1478delA |
<1 |
? |
Severe |
No |
Frameshift |
Bogdanova et al (2005B) |
Jul-06 |
| Exon 10 |
477 |
1 (C) |
<1 |
? |
Severe |
? |
Frameshift |
Gallardo et al (unpublished) |
Aug-03 |
| Exon 10 |
477 |
1 (C) |
<1 |
? |
Severe |
Yes |
Frameshift P477fs |
Fernandez-Lopez et al (2005) |
Jul-07 |
| Exon 10 |
481 |
1 (A at nt1498) |
<1 |
? |
? |
? |
Frameshift |
Citron et al (2002) |
Jul-03 |
| Exon 10 |
481 |
1 (A at nt1498) |
<1 |
? |
? |
? |
Frameshift |
Citron et al (2002) |
Jul-03 |
| Exon 10 |
483-487 |
11(CCGTCCTTTGT) |
<1 |
? |
Severe |
No |
Frameshift |
Lin et al (1993) |
Dec-93 |
| Exon 10 |
489 |
1 (A1522) |
<1 |
? |
Severe |
No |
Frameshift |
Theophilus et al (2001) |
Aug-01 |
| Exon 11 |
501 |
1 (T) |
<1 |
? |
Severe |
Yes |
Frameshift |
Gallardo et al (unpublished) |
Nov-06 |
| Exon 11 |
508-516 |
23 |
<1 |
<1 |
Severe |
No |
Frameshift |
Ivaskevicius et al (2001) |
Aug-01 |
| Exon 11 |
565 |
1bp (C at nt1750, codon 565) |
? |
? |
Severe |
? |
Frameshift |
Leuer et al (2001) |
Jul-07 |
| Exon 12 |
588 |
2 (CA at nt1820) |
<1 |
? |
? |
No |
Frameshift |
Chuansumrit et al (unpublished) |
Aug-04 |
| Exon 12 |
602 |
1 (C) |
<1 |
<1 |
Severe |
No |
Frameshift |
Ljung et al (unpublished) |
Jul-07 |
| Ex 12/Int 12 |
NA |
1 (G) |
? |
? |
Severe |
? |
1903 +3 del G donor splice |
Nesbitt et al (unpublished) |
Aug-05 |
| Exon 13 |
620 |
2 (TA) |
<1 |
? |
Severe |
No |
Frameshift |
Liu et al (2002) |
Mar-02 |
| Exon 13 |
622 |
insA delTG |
<1 |
? |
Severe |
? |
Indel Frameshift |
Gallardo et al (unpublished) |
Nov-06 |
| Exon 13 |
628-629 |
4 (AGTT at nt1941-44, codon 628) |
? |
? |
Severe |
? |
Frameshift |
Becker et al (1996); Leuer et al (2001) |
Aug-96 |
| Exon 13 |
629-631 |
4 (TTTG) in repeat
at nt 1943-50 |
<1 |
? |
Severe |
No |
Frameshift |
Hill et al (2005) |
Nov-05 |
| Exon 13 |
645 |
2 (CA at c.1990-1991) |
<1 |
? |
Severe |
? |
Frameshift |
Ahmed et al (2005) |
Aug-05 |
| Exon 13 |
647 |
4 (GACT) nt 1996-9 |
<1 |
? |
Severe |
? |
Frameshift |
Western et al (unpublished) |
Aug-05 |
| Exon 13 |
648 |
1(T) |
<1 |
<1 |
Severe |
No |
Frameshift |
Ljung et al (unpublished) |
Jul-07 |
| Exon 13 |
652/653 |
3 (TTC) |
1 |
12 |
Severe |
No |
Deletes Phe 652 |
McGinniss et al (1993) |
Dec-93 |
| Exon 13 |
677-678 |
2 (TG) |
<1 |
? |
? |
? |
Frameshift |
Citron et al (2002) |
Jul-03 |
| Exon 14 |
717-719 |
c.2208_2214del / c.2207_2215insCTCTT |
<1 |
? |
Severe |
Yes |
Y718fs Frameshift |
Bogdanova et al (2002, 2005) |
Dec-02 |
| Exon 14 |
726/729 |
8 (TTCAGCAT) |
<1 |
? |
Severe |
No |
Frameshift |
Habart et al (2003) |
Aug-05 |
| Exon 14 |
766 |
2 |
<1 |
<1 |
Severe |
No |
Frameshift |
Ljung et al (unpublished) |
Oct-99 |
| Exon 14 |
766 |
2 (TA2354-5) |
102 |
? |
NA (Carrier) |
NA |
Frameshift in carrier |
Theophilus et al (2001) |
Aug-01 |
| Exon 14 |
768 |
1 (A) |
<1 |
<1 |
Severe |
No |
Frameshift |
Liu et al (1998); Nakaya et al (2001) |
May-99 |
| Exon 14 |
775/776 |
5 (GAACA) |
? |
? |
Severe |
? |
Frameshift |
Becker et al (1996) |
Aug-96 |
| Exon 14 |
784 |
1 (T) 2409delT |
<1 |
? |
Severe |
No |
Frameshift |
Vidal et al ( 2000) |
Nov-98 |
| Exon 14 |
785-8 |
10 (CTCCTCTAGT or GTCTCCTCTA) |
2 |
? |
Severe |
No |
Frameshift |
Lillicrap et al (unpublished) |
Oct-02 |
| Exon 14 |
804 |
1 (A at nt2469) |
1 |
? |
? |
? |
Frameshift |
Citron et al (2002) |
Jul-03 |
| Exon 14 |
810 |
1 (G) |
<1 |
13 (post) |
Severe |
No |
Frameshift |
Nakaya et al (2001) |
Mar-02 |
| Exon 14 |
823-824 |
2 (AG) |
<1 |
? |
Severe |
No |
Frameshift G823fs |
Fernandez-Lopez et al (2005) |
Jul-07 |
| Exon 14 |
833 |
2 (GA) plus ins T |
1 |
? |
Severe |
No |
Frameshift |
Lillicrap et al (unpublished) |
Oct-02 |
| Exon 14 |
851 |
1 (T) |
? |
? |
Severe |
? |
Frameshift |
Cutler et al (2002) |
Jul-03 |
| Exon 14 |
851 |
1 (T) c.2610 |
<1 |
? |
Severe |
Yes |
Frameshift |
Bogdanova et al (2002, 2005) |
Dec-02 |
| Exon 14 |
851 |
2 (CT) nt 2609-2610 |
<1 |
? |
? |
No |
Frameshift |
Habart et al (2003) |
Aug-05 |
| Exon 14 |
863-4 |
1G (GGGG>GGG) |
<1 |
<1 |
Severe |
No |
Frameshift |
Nakaya et al (2001) |
Mar-02 |
| Exon 14 |
864-6 |
del GGGACAACT/ins CTGCAGTT |
<1 |
<1 |
Severe |
Yes |
Frameshift |
Nakaya et al (2001) |
Mar-02 |
| Exon 14 |
864 |
delGACA insCAATTAAATGAGAA |
<1 |
? |
Severe |
No |
Frameshift Gly>fs (TAA-867) |
Jayandharan et al (2005) |
Aug-07 |
| Exon 14 |
905-8 |
7 (GACCCCC) |
? |
? |
Severe |
? |
Frameshift |
Lillicrap et al (unpublished) |
Oct-02 |
| Exon 14 |
926 |
2 |
? |
? |
Severe |
No |
Frameshift |
Pieneman et al (1995) |
Jun-96 |
| Exon 14 |
929 |
c.2842delC p.L929fsX8 |
<1 |
? |
Severe |
No |
Frameshift |
Riccardi et al (unpublished) |
Nov-05 |
| Exon 14 |
954 |
1(A) |
<1 |
<1 |
Severe |
No |
Frameshift |
Ljung et al (unpublished) |
Jul-07 |
| Exon 14 |
967 |
1A (ACA>AC) |
<1 |
<1 |
Severe |
Yes |
Frameshift |
Nakaya et al (2001) |
Mar-02 |
| Exon 14 |
969 |
2 (AG) |
<1 |
? |
Severe |
No |
Frameshift |
Lin et al (1993) |
Dec-93 |
| Exon 14 |
996-7 |
1 (T) |
<1 |
? |
Severe |
No |
Frameshift |
Lillicrap et al (unpublished) |
Oct-02 |
| Exon 14 |
999 |
1 (A) |
<1 |
? |
Severe |
No |
Frameshift |
Gallardo et al (unpublished) |
Aug-03 |
| Exon 14 |
1001 |
1C (AAACAAAA>7As) |
<1 |
<1 |
Severe |
No |
Frameshift |
Nakaya et al (2001) |
Mar-02 |
| Exon 14 |
1001 |
c.3060_3064 delCAAA p.N1001fsX20 |
<1 |
? |
Severe |
No |
Frameshift |
Riccardi et al (unpublished) |
Nov-05 |
| Exon 14 |
1001 |
c.3060_3064 delCAAA p.N1001fsX20 |
<1 |
? |
Severe |
No |
Frameshift |
Bogdanova et al (2005B) |
Jul-06 |
| Exon 14 |
1012-3 |
4 (AAAG) |
<1 |
<1 |
Severe |
No |
Frameshift |
Ljung et al (unpublished) |
Oct-99 |
| Exon 14 |
1012-3 |
4 (AAAG) |
<1 |
? |
Severe |
Yes |
Frameshift |
Gallardo et al (unpublished) |
Aug-03 |
| Exon 14 |
1012-3 |
K1012fs c.3090_3093delAAAG |
<1 |
? |
Severe |
No |
Frameshift |
Bogdanova et al (2005B) |
Jul-06 |
| Exon 14 |
1032 |
1 (T) |
<1 |
? |
Severe |
No |
Frameshift |
Lillicrap et al (unpublished) |
Oct-02 |
| Exon 14 |
1049 |
2 (AG) |
? |
? |
Severe |
? |
Frameshift |
Arruda et al (1995) |
Jul-96 |
| Exon 14 |
1096 |
1 (T) |
? |
? |
Severe |
? |
Frameshift |
Cutler et al (2002) |
Jul-03 |
| Exon 14 |
1105 |
2 (TC)& ins A nt 3371 |
<1 |
? |
Severe |
? |
Frameshift |
Nesbitt et al (unpublished) |
Aug-00 |
| Exon 14 |
1115 |
8 at nt3402 |
1 |
? |
? |
? |
Frameshift |
Citron et al (2002) |
Jul-03 |
| Exon 14 |
1120 |
CT nt 3415-6 |
<1 |
? |
Severe |
? |
Frameshift |
Nesbitt et al (unpublished) |
Aug-05 |
| Exon 14 |
1145 |
1 (T) |
<1 |
? |
Severe |
? |
Frameshift |
Akkarapatumwong et al (2000) |
Feb-01 |
| Exon 14 |
1150-1 |
1 (G) |
<1 |
? |
Severe |
No |
Frameshift |
Lillicrap et al (unpublished) |
Oct-02 |
| Exon 14 |
1158 |
A1158fs c.3385delC |
<1 |
? |
Severe |
No |
Frameshift |
Bogdanova et al (2005B) |
Jul-06 |
| Exon 14 |
1164 |
2 (AA) |
<1 |
? |
Severe |
No |
Frameshift |
Lin et al (1993) |
Dec-93 |
| Exon 14 |
1178 |
1 (A) |
? |
? |
Severe |
? |
Frameshift |
Cutler et al (2002) |
Jul-03 |
| Exon 14 |
1178 |
1 (A) nt 3589 |
? |
? |
Severe |
? |
Frameshift |
Nesbitt et al (unpublished) |
Aug-05 |
| Exon 14 |
1178 |
1 (A) nt 3589 |
? |
? |
Severe |
? |
Frameshift |
Nesbitt et al (unpublished) |
Aug-05 |
| Exon 14 |
1187 |
4 (ACAC) |
? |
? |
Severe |
? |
Frameshift |
Becker et al (1996) |
Aug-96 |
| Exon 14 |
1187 |
4 (ACAC) |
<1 |
? |
Severe |
? |
Frameshift |
Akkarapatumwong et al (2000) |
Feb-01 |
| Exon 14 |
1187 |
4 (ACAC): termination at 1198 |
<1 |
? |
Severe |
No |
Frameshift |
Acquila et al (2004B) |
Jul-07 |
| Exon 14 |
1191-4 |
c.3637delA p.I1194fsX5 |
2 |
? |
Severe |
No |
Frameshift |
Pieneman et al (1995) |
Jun-96 |
| Exon 14 |
1191-4 |
c.3637delA p.I1194fsX5 |
<1 |
<1 |
Severe |
No |
Frameshift |
Pieneman et al (1995) |
Jun-96 |
| Exon 14 |
1191-4 |
c.3637delA p.I1194fsX5 |
? |
? |
Severe |
? |
Frameshift |
Becker et al (1996) |
Aug-96 |
| Exon 14 |
1191-4 |
c.3637delA p.I1194fsX5 |
? |
? |
Severe |
? |
Frameshift |
Becker et al (1996) |
Aug-96 |
| Exon 14 |
1191-4 |
c.3637delA p.I1194fsX5 |
? |
? |
Severe |
? |
Frameshift |
Becker et al (1996) |
Aug-96 |
| Exon 14 |
1191-4 |
c.3637delA p.I1194fsX5 |
3 |
? |
? |
? |
Frameshift |
Tuddenham et al (unpublished) |
Jun-96 |
| Exon 14 |
1191-4 |
c.3637delA p.I1194fsX5 |
<1 |
? |
Severe |
No |
Frameshift |
Lin et al (1993) |
Dec-93 |
| Exon 14 |
1191-4 |
c.3637delA p.I1194fsX5 |
<1 |
? |
Severe |
No |
Frameshift |
Lin et al (1993) |
Dec-93 |
| Exon 14 |
1191-4 |
c.3637delA p.I1194fsX5 |
3 |
? |
Moderate |
No |
F/S Poly-A Run induced partial corrn. |
Vidal et al (2001) |
Aug-01 |
| Exon 14 |
1191-4 |
c.3637delA p.I1194fsX5 |
<1 |
? |
Severe |
No |
Frameshift |
Vidal et al (2001) |
Aug-01 |
| Exon 14 |
1191-4 |
c.3637delA p.I1194fsX5 |
<1 |
? |
Severe |
No |
Frameshift |
Goodeve et al (2000) |
Feb-01 |
| Exon 14 |
1191-4 |
c.3637delA p.I1194fsX5 |
<1 |
? |
Severe |
No |
Frameshift |
Goodeve et al (2000) |
Feb-01 |
| Exon 14 |
1191-4 |
c.3637delA p.I1194fsX5 |
1 |
? |
Severe |
No |
Frameshift |
Goodeve et al (2000) |
Feb-01 |
| Exon 14 |
1191-4 |
c.3637delA p.I1194fsX5 |
4 |
? |
Moderate |
? |
Frameshift |
Akkarapatumwong et al (2000) |
Feb-01 |
| Exon 14 |
1191-4 |
c.3637delA p.I1194fsX5 |
2 |
? |
Severe |
No |
Frameshift |
Nesbitt et al (unpublished) |
Aug-00 |
| Exon 14 |
1191-4 |
c.3637delA p.I1194fsX5 |
? |
? |
Severe |
? |
Frameshift |
Nesbitt et al (unpublished) |
Aug-00 |
| Exon 14 |
1191-4 |
c.3637delA p.I1194fsX5 |
<1 |
0.5-0.7 |
Severe |
No |
Frameshift |
Ivaskevicius et al (2001) |
Aug-01 |
| Exon 14 |
1191-4 |
c.3637delA p.I1194fsX5 |
<3 |
? |
Severe |
No |
Frameshift |
Theophilus et al (2001) |
Aug-01 |
| Exon 14 |
1191-4 |
c.3637delA p.I1194fsX5 |
<1 |
? |
Severe |
No |
Frameshift |
Theophilus et al (2001) |
Aug-01 |
| Exon 14 |
1191-4 |
c.3637delA p.I1194fsX5 |
? |
3 |
Moderate |
No |
Frameshift |
Nakaya et al (2001) |
Mar-02 |
| Exon 14 |
1191-4 |
c.3637delA p.I1194fsX5 |
1 |
30 post |
Moderate |
No |
Frameshift |
Nakaya et al (2001) |
Mar-02 |
| Exon 14 |
1191-4 |
c.3637delA p.I1194fsX5 |
1 |
? |
Moderate |
No |
Frameshift |
Nakaya et al (2001) |
Mar-02 |
| Exon 14 |
1191-4 |
c.3637delA p.I1194fsX5 |
3 |
<1 |
Moderate |
No |
Frameshift |
Nakaya et al (2001) |
Mar-02 |
| Exon 14 |
1191-4 |
c.3637delA p.I1194fsX5 |
<1,2,4 |
<1 |
Moderate |
No |
Frameshift |
Nakaya et al (2001) |
Mar-02 |
| Exon 14 |
1191-4 |
c.3637delA p.I1194fsX5 |
? |
? |
Severe |
? |
Frameshift |
Cutler et al (2002) |
Jul-03 |
| Exon 14 |
1191-4 |
c.3637delA p.I1194fsX5 |
? |
? |
Severe |
No |
Frameshift |
Lillicrap et al (unpublished) |
Oct-02 |
| Exon 14 |
1191-4 |
c.3637delA p.I1194fsX5 |
? |
? |
Severe |
No |
Frameshift |
Lillicrap et al (unpublished) |
Oct-02 |
| Exon 14 |
1191-4 |
c.3637delA p.I1194fsX5 |
? |
? |
Severe |
? |
Frameshift |
Lillicrap et al (unpublished) |
Oct-02 |
| Exon 14 |
1191-4 |
c.3637delA p.I1194fsX5 |
1 |
? |
? |
No |
Frameshift |
Lillicrap et al (unpublished) |
Oct-02 |
| Exon 14 |
1191-4 |
c.3637delA p.I1194fsX5 |
1 |
? |
Severe |
No |
Frameshift |
Lillicrap et al (unpublished) |
Aug-05 |
| Exon 14 |
1191-4 |
c.3637delA p.I1194fsX5 |
<1 |
? |
Severe |
No |
Frameshift |
Lillicrap et al (unpublished) |
Aug-05 |
| Exon 14 |
1191-4 |
c.3637delA p.I1194fsX5 |
> |
? |
Severe |
? |
Frameshift |
Lillicrap et al (unpublished) |
Aug-05 |
| Exon 14 |
1191-4 |
c.3637delA p.I1194fsX5 |
<1 |
? |
Severe |
No |
Frameshift |
Bogdanova et al (2002, 2005) |
Dec-02 |
| Exon 14 |
1191-4 |
c.3637delA p.I1194fsX5 |
<1 |
? |
Severe |
No |
Frameshift |
Bogdanova et al (2002, 2005) |
Dec-02 |
| Exon 14 |
1191-4 |
c.3637delA p.I1194fsX5 |
<1 |
? |
Severe |
No |
Frameshift |
Gallardo et al (unpublished) |
Aug-03 |
| Exon 14 |
1191-4 |
c.3637delA p.I1194fsX5 |
<1 |
? |
Severe |
No |
Frameshift |
Fidalgo et al (unpublished) |
Aug-04 |
| Exon 14 |
1191-4 |
c.3637delA p.I1194fsX5 |
<1 |
? |
Severe |
Yes |
Frameshift |
Fidalgo et al (unpublished) |
Aug-04 |
| Exon 14 |
1191-4 |
c.3637delA p.I1194fsX5 |
<1 |
? |
? |
No |
Frameshift |
Habart et al (2003) |
Aug-05 |
| Exon 14 |
1191-4 |
c.3637delA p.I1194fsX5 |
? |
? |
? |
No |
Frameshift |
Habart et al (2003) |
Aug-05 |
| Exon 14 |
1191-4 |
c.3637delA p.I1194fsX5 |
<1 |
? |
? |
No |
Frameshift |
Habart et al (2003) |
Aug-05 |
| Exon 14 |
1191-4 |
c.3637delA p.I1194fsX5 |
2 |
? |
? |
No |
Frameshift |
Habart et al (2003) |
Aug-05 |
| Exon 14 |
1191-4 |
c.3637delA p.I1194fsX5 |
? |
? |
Severe |
? |
Frameshift |
Nesbitt et al (unpublished) |
Aug-05 |
| Exon 14 |
1191-4 |
c.3637delA p.I1194fsX5 |
<1 |
? |
Severe |
? |
Frameshift |
Nesbitt et al (unpublished) |
Aug-05 |
| Exon 14 |
1191-4 |
c.3637delA p.I1194fsX5 |
<1 |
? |
Severe |
No |
Frameshift |
Riccardi et al (unpublished) |
Nov-05 |
| Exon 14 |
1191-4 |
c.3637delA p.I1194fsX5 |
<1 |
? |
Severe |
No |
Frameshift |
Riccardi et al (unpublished) |
Nov-05 |
| Exon 14 |
1191-4 |
c.3637delA p.I1194fsX5 |
<1 |
? |
Severe |
No |
Frameshift |
Riccardi et al (unpublished) |
Nov-05 |
| Exon 14 |
1191-4 |
c.3637delA p.I1194fsX5 |
<1 |
? |
Severe |
No |
Frameshift |
Riccardi et al (unpublished) |
Nov-05 |
| Exon 14 |
1191-4 |
c.3637delA p.I1194fsX5 |
<1 |
? |
Severe |
No |
Frameshift |
Hill et al (2005) |
Nov-05 |
| Exon 14 |
1191-4 |
c.3637delA p.I1194fsX5 |
2 |
8 |
Severe |
? |
Frameshift |
Arnold et al (unpublished) |
Jul-06 |
| Exon 14 |
1191-4 |
c.3637delA p.I1194fsX5 |
<1 |
? |
Severe |
No |
Frameshift |
Gallardo et al (unpublished) |
Nov-06 |
| Exon 14 |
1191-4 |
c.3637delA p.I1194fsX5 |
<1 |
? |
Severe |
No |
Frameshift |
Fernandez-Lopez et al (2005) |
Jul-07 |
| Exon 14 |
1191-4 |
c.3637delA p.I1194fsX5 |
<1 |
? |
Severe |
No |
Frameshift |
Fernandez-Lopez et al (2005) |
Jul-07 |
| Exon 14 |
1191-4 |
c.3637delA p.I1194fsX5 |
1.6 |
? |
Moderate |
No |
Frameshift |
Acquila et al (2004B) |
Jul-07 |
| Exon 14 |
1191-4 |
c.3637delA p.I1194fsX5 |
? |
? |
Severe |
? |
Frameshift |
Leuer et al (2001) |
Jul-07 |
| Exon 14 |
1191-4 |
c.3637delA p.I1194fsX5 |
? |
? |
Severe |
? |
Frameshift |
Leuer et al (2001) |
Jul-07 |
| Exon 14 |
1191-4 |
c.3637delA p.I1194fsX5 |
? |
? |
Severe |
? |
Frameshift |
Leuer et al (2001) |
Jul-07 |
| Exon 14 |
1191-4 |
c.3637delA p.I1194fsX5 |
<1 |
? |
Severe |
No |
Frameshift Ile>fs (TAG-1198) |
Jayandharan et al (2005) |
Aug-07 |
| Exon 14 |
1194 |
1 (presume A) |
<1 |
<1 |
Severe |
No |
Frameshift |
Ljung et al (unpublished) |
Oct-99 |
| Exon 14 |
1194 |
1 (presume A) |
<1 |
<1 |
Severe |
No |
Frameshift |
Ljung et al (unpublished) |
Oct-99 |
| Exon 14 |
1194 |
1 (presume A) |
<1 |
<1 |
Severe |
No |
Frameshift |
Ljung et al (unpublished) |
Oct-99 |
| Exon 14 |
1212 |
1 (C) |
<1 |
? |
Severe |
No |
Frameshift |
Naylor et al (1993) |
Dec-93 |
| Exon 14 |
1215 |
4 (TACA) |
<1 |
? |
Severe |
? |
In direct TACATACA rpt, F/S |
Tavassoli et al (1998A) |
Jan-99 |
| Exon 14 |
1215 |
4 (TACA) |
1 |
0.6 |
Moderate |
No |
In direct TACATACA rpt, F/S |
Ivaskevicius et al (2001) |
Aug-01 |
| Exon 14 |
1215 |
H1215fs c.3702_3705delTACA |
<1 |
? |
Severe |
No |
In direct TACATACA rpt, F/S |
Bogdanova et al (2002, 2005) |
Dec-02 |
| Exon 14 |
1218 |
1 (C) |
<1 |
? |
Severe |
? |
Frameshift |
Gallardo et al (unpublished) |
Nov-06 |
| Exon 14 |
1227 |
1 (C) Leu>fs (TGA-1231) |
<1 |
? |
Severe |
No |
Frameshift |
Jayandharan et al (2005) |
Aug-07 |
| Exon 14 |
1238 |
1 (T at nt3771) |
<1 |
? |
? |
? |
Frameshift |
Citron et al (2002) |
Jul-03 |
| Exon 14 |
1258 |
1 (? nt3830) |
<1 |
? |
? |
? |
Frameshift |
Citron et al (2002) |
Jul-03 |
| Exon 14 |
1259 |
1 (A nt3833) |
<1 |
? |
? |
? |
Frameshift |
Citron et al (2002) |
Jul-03 |
| Exon 14 |
1271 |
1 (A) c.3870 |
22 |
? |
Mild? |
No |
Female patient, frameshift |
Bogdanova et al (2002, 2005) |
Dec-02 |
| Exon 14 |
1312 |
2 (AA at c.3991-3992) |
<1 |
? |
Severe |
? |
Frameshift |
Ahmed et al (2005) |
Aug-05 |
| Exon 14 |
1313-1314 |
4 (AGAG) |
<1 |
? |
Severe |
Yes |
Frameshift |
Vidal et al (2001) |
Aug-01 |
| Exon 14 |
1346-48 |
7 in nt 4093-99 (CATTTGA) |
<1 |
<1 |
Severe |
No |
Frameshift |
Ljung et al (unpublished) |
Jul-07 |
| Exon 14 |
1348-9 |
1 (C) nt 4100-4103 |
<1 |
? |
? |
No |
Frameshift |
Habart et al (2003) |
Aug-05 |
| Exon 14 |
1355-1356 |
4 (TAGA) |
<1 |
? |
Severe |
No |
Frameshift |
Lin et al (1993) |
Dec-93 |
| Exon 14 |
1355-1356 |
4 (TAGA) |
? |
? |
Severe |
? |
Frameshift |
Laprise et al (1998) |
Jan-99 |
| Exon 14 |
1392 |
1392del1418 Pro>fs (TAG-1446) |
<1 |
? |
Severe |
No |
Frameshift |
Jayandharan et al (2005) |
Aug-07 |
| Exon 14 |
1392 |
1392del1418 Pro>fs (TAG-1446) |
<1 |
? |
Severe |
No |
Frameshift |
Jayandharan et al (2005) |
Aug-07 |
| Exon 14 |
1403 |
2 (TA at nt4264-5, codon 1403) |
? |
? |
Severe |
? |
Frameshift |
Leuer et al (2001) |
Jul-07 |
| Exon 14 |
1405 |
1 (C) |
<1 |
? |
Severe |
No |
Frameshift |
Vidal et al (2001) |
Aug-01 |
| Exon 14 |
1408 |
1 (T) |
<1 |
? |
Severe |
No |
Frameshift |
Pieneman et al (1995) |
Jun-96 |
| Exon 14 |
1412-1414 |
5 (CTCTT) |
1.0 |
? |
Severe |
No |
Frameshift |
David et al (unpublished) |
Dec-93 |
| Exon 14 |
1413-1415 |
5 (TTCTC) |
<1 |
? |
Severe |
Yes |
Frameshift |
Are et al (unpublished) |
Feb-00 |
| Exon 14 |
1421 |
1 (T4318) |
1 |
? |
Severe |
No |
Frameshift |
Theophilus et al (2001) |
Aug-01 |
| Exon 14 |
1422-3 |
4 (AGAA) nt 4321-4324 |
<1 |
? |
Severe |
No |
Frameshift |
Waseem et al (1999) |
Aug-00 |
| Exon 14 |
1422-3 |
4 (AGAA) nt 4321-4324 |
<1 |
? |
? |
No |
Frameshift |
Habart et al (2003) |
Aug-05 |
| Exon 14 |
1439-41 |
c.4379delA p.N1441fsX5 |
? |
? |
Severe |
? |
Frameshift |
Higuchi et al (1991a) |
Dec-91 |
| Exon 14 |
1439-41 |
c.4379delA p.N1441fsX5 |
<1 |
? |
Severe |
No |
Frameshift |
Naylor et al (1993) |
Dec-93 |
| Exon 14 |
1439-41 |
c.4379delA p.N1441fsX5 |
<1 |
? |
Severe |
Yes |
Frameshift |
Are et al (unpublished) |
Feb-00 |
| Exon 14 |
1439-41 |
c.4379delA p.N1441fsX5 |
<1 |
0.4 |
Severe |
No |
Frameshift |
Ivaskevicius et al (2001) |
Aug-01 |
| Exon 14 |
1439-41 |
c.4379delA p.N1441fsX5 |
<1 |
? |
? |
No |
Frameshift |
Lillicrap et al (unpublished) |
Oct-02 |
| Exon 14 |
1439-41 |
c.4379delA p.N1441fsX5 |
<1 |
? |
Severe |
No |
Frameshift |
Gallardo et al (unpublished) |
Aug-03 |
| Exon 14 |
1439-41 |
c.4379delA p.N1441fsX5 |
<1 |
? |
Severe |
No |
Frameshift |
Silva Pinto et al (unpublished) |
Aug-04 |
| Exon 14 |
1439-41 |
c.4379delA p.N1441fsX5 |
<1 |
? |
? |
No |
Frameshift |
Habart et al (2003) |
Aug-05 |
| Exon 14 |
1439-41 |
c.4379delA p.N1441fsX5 |
? |
? |
Severe |
? |
Frameshift |
Nesbitt et al (unpublished) |
Aug-05 |
| Exon 14 |
1439-41 |
c.4379delA p.N1441fsX5 |
<1 |
? |
Severe |
? |
Frameshift |
Ahmed et al (2005) |
Aug-05 |
| Exon 14 |
1439-41 |
c.4379delA p.N1441fsX5 |
<1 |
? |
Severe |
No |
Frameshift |
Riccardi et al (unpublished) |
Nov-05 |
| Exon 14 |
1439-41 |
c.4379delA p.N1441fsX5 |
<1 |
? |
Severe |
No |
Frameshift |
Bogdanova et al (2005B) |
Jul-06 |
| Exon 14 |
1439-41 |
c.4379delA p.N1441fsX5 |
<1 |
? |
Severe |
No |
Frameshift |
Bogdanova et al (2005B) |
Jul-06 |
| Exon 14 |
1439-41 |
c.4379delA p.N1441fsX5 |
? |
? |
Severe |
No |
Frameshift |
Arnold et al (unpublished) |
Jul-06 |
| Exon 14 |
1441 |
1 (T) after run of 8As c.4372-4379 |
4 |
1 |
Moderate |
No |
Frameshift with partial correction |
Young et al (1997) |
Nov-02 |
| Exon 14 |
1441 |
1 (T) after run of 8As c.4372-4379 |
<1 |
? |
Severe |
No |
Frameshift |
Frusconi et al (2002) |
Nov-02 |
| Exon 14 |
1441 |
1 (T) |
6 |
? |
Severe |
No |
Frameshift |
Lillicrap et al (unpublished) |
Aug-05 |
| Exon 14 |
1451-1454 |
10 (AGATGACTGG) at nt 4409-18 |
<1 |
? |
Severe |
Yes |
Frameshift |
Hill et al (2005) |
Nov-05 |
| Exon 14 |
1451-1454 |
10 (AGATGACTGG) at nt 4409-18 |
<1 |
? |
Severe |
? |
Frameshift |
Western et al (unpublished) |
Aug-05 |
| Exon 14 |
1456-7 |
2 (AA) nt 4424-4426 |
<1 |
? |
? |
? |
Frameshift |
Habart et al (2003) |
Aug-05 |
| Exon 14 |
1458 |
2 (GA) nt 4429-4430 |
<1 |
? |
Severe |
? |
Frameshift |
Akkarapatumwong et al (2000) |
Feb-01 |
| Exon 14 |
1476 |
1bp (G) |
<1 |
? |
Severe |
No |
Frameshift |
Acquila et al (2004B) |
Jul-07 |
| Exon 14 |
1478-1479 |
2 (TG) |
<1 |
? |
Severe |
No |
Frameshift T1478fs |
Fernandez-Lopez et al (2005) |
Jul-07 |
| Exon 14 |
1488 |
c.4519delA T1488fs |
<1 |
? |
Severe |
No |
Frameshift |
Bogdanova et al (2002, 2005) |
Dec-02 |
| Exon 14 |
1497 |
1 (A) |
<1 |
<1 |
Severe |
No |
Frameshift |
Ljung et al (unpublished) |
Jul-07 |
| Exon 14 |
1504 |
delGT Val>fs
(TGA-1517) |
<1 |
? |
Severe |
No |
Frameshift |
Jayandharan et al (2005) |
Aug-07 |
| Exon 14 |
1534 |
1 (A) nt 4658 |
<1 |
? |
Severe |
? |
Frameshift |
Akkarapatumwong et al (2000) |
Feb-01 |
| Exon 14 |
1535-6 |
2(GA) |
? |
? |
Severe |
? |
Frameshift |
Higuchi et al (1991b) |
Dec-91 |
| Exon 14 |
1536-40 |
c.4665_4688del / 4664_4689insAAGGAA |
<1 |
? |
Severe |
Yes |
Frameshift N1536fs |
Bogdanova et al (2002, 2005) |
Dec-02 |
| Exon 14 |
1539 |
4 (AACA) |
2 |
? |
Moderate |
No |
Frameshift |
Gallardo et al (unpublished) |
Nov-06 |
| Exon 14 |
1542-1543 |
1 (A) |
<1 |
? |
Severe |
No |
Frameshift |
Lillicrap et al (unpublished) |
Aug-05 |
| Exon 14 |
1543-1545 |
del AT ins G (AAAAT>AAAG) nt 4683 |
<1 |
? |
? |
No |
Indel Frameshift |
Habart et al (2003) |
Aug-05 |
| Exon 14 |
1546 |
4 |
<1 |
<1 |
Severe |
No |
Frameshift |
Ljung et al (unpublished) |
Oct-99 |
| Exon 14 |
1551-2 |
del AGAA - T1551fs c.4710-4713del |
0.5 |
? |
Severe |
? |
Frameshift |
Zhang et al (1999) |
Jul-11 |
| Exon 14 |
1575-7 |
I1575fs c.4781-4787del |
<1 |
? |
Severe |
No |
Frameshift |
Bogdanova et al (2002, 2005) |
Dec-02 |
| Exon 14 |
1597 |
1 (C) |
? |
? |
Severe |
? |
Frameshift |
Lillicrap et al (unpublished) |
Aug-05 |
| Exon 14 |
1601 |
1 (C) |
<1 |
? |
Severe |
No |
Frameshift |
Lin et al (1993) |
Dec-93 |
| Exon 14 |
1623 |
1A (GAA>GA) |
<1 |
<1 |
Severe |
No |
Frameshift |
Nakaya et al (2001) |
Mar-02 |
| Exon 14 |
1648 |
1 (C) nt 4999 |
<1 |
? |
? |
No |
Frameshift |
Habart et al (2003) |
Aug-05 |
| Exon 14 |
1651 |
1 (T) |
<1 |
<1 |
Severe |
No |
Frameshift |
Ljung et al (unpublished) |
Jul-07 |
| Exon 14 |
1667-71 |
12 (ATATCAGTTGAA), ins TG |
<1 |
? |
Severe |
No |
Frameshift |
Lillicrap et al (unpublished) |
Oct-02 |
| Exon 14 |
1671-2 |
5 (AAATG) |
<1 |
? |
Severe |
No |
Frameshift |
Freson et al (1998) |
Apr-99 |
| Exon 14 |
1671-3 |
5 (AATGA or ATGAA) |
<1 |
? |
Severe |
No |
Frameshift |
Nakaya et al (2001) |
Mar-02 |
| Exon 14 |
1689 |
1 (C) |
? |
? |
? |
? |
Frameshift |
Tuddenham et al (unpublished) |
Jun-96 |
| Exon 14 |
1689 |
1 (C) |
? |
? |
Severe |
No |
Frameshift |
Lillicrap et al (unpublished) |
Oct-02 |
| Exon 14 |
1689 |
1 |
<1 |
<1 |
Severe |
Yes |
Frameshift |
Ljung et al (unpublished) |
Oct-99 |
| Exon 14 |
1690 |
1bp (A) |
<1 |
<1 |
Severe |
No |
Frameshift |
Acquila et al (2004B) |
Jul-07 |
| Exon 14 |
1695 |
1 (A in 4 As at c.5137-5140) |
<1 |
? |
Severe |
? |
Frameshift |
Ahmed et al (2005) |
Aug-05 |
| Exon 14 |
1719 |
4bp (GAAA) |
<1 |
? |
Severe |
No |
Frameshift |
Acquila et al (2004B) |
Jul-07 |
| Exon 15 |
1723-4 |
2 (GA) |
<1 |
? |
Severe |
No |
Frameshift |
Gallardo et al (unpublished) |
Aug-03 |
| Exon 15 |
1729 |
delA Gln>fs (TAA-1752) |
<1 |
? |
Severe |
No |
Frameshift |
Jayandharan et al (2005) |
Aug-07 |
| Exon 15 |
1738 |
1 (T) |
? |
? |
Severe |
? |
Frameshift |
Cutler et al (2002) |
Jul-03 |
| Exon 15 |
1746 |
3 (CCC at c.5293-5295) |
9 |
? |
Mild |
? |
In frame deletes Pro 1746 |
Ahmed et al (2005) |
Aug-05 |
| Exon 15 |
1771 |
3 (ATC) |
7 |
? |
Mild |
No |
In frame deletes Ile 1771 |
Casey et al (1999) |
Aug-04 |
| Exon 16 |
1780 |
2 (TC) |
<1 |
? |
Severe |
Yes |
Frameshift |
Tavassoli et al (1998B) |
Aug-97 |
| Exon 16 |
1801 |
1 (A) |
? |
? |
Severe |
No |
Frameshift |
Pieneman et al (1995) |
Jun-96 |
| Exon 16 |
1810 |
N1810fs c.5486delA |
<1 |
? |
Severe |
No |
Frameshift |
Bogdanova et al (2005B) |
Jul-06 |
| Exon 16 |
1835 |
1 (G) nt 5560-2 |
<1 |
? |
Severe |
? |
Frameshift |
Bicocchi et al (2003) |
Aug-04 |
| Exon 16 |
1836-7 |
4 (CTTA) |
<1 |
? |
Severe |
No |
Frameshift |
Liu et al (2002) |
Mar-02 |
| Exon 16 |
1839 |
1 (T) |
? |
? |
? |
? |
Frameshift |
Tuddenham et al (unpublished) |
Jun-96 |
| Exon 16 |
1840 |
1 (G) |
<1 |
? |
Severe |
No |
Frameshift |
Cutler et al (2002) |
Jul-03 |
| Exon 17 |
1845 |
1 (A) |
<1 |
? |
Severe |
No |
Frameshift K1845fs |
Fernandez-Lopez et al (2005) |
Jul-07 |
| Exon 17 |
1862 |
1 (A) nt 5641 |
? |
? |
Severe |
Yes |
Frameshift |
Casey et al (unpublished) |
Aug-04 |
| Exon 17 |
1876 |
1 (T) |
<1 |
? |
Severe |
? |
Frameshift |
Lillicrap et al (unpublished) |
Oct-02 |
| Exon 17 |
1876 |
1 (T) |
1 |
? |
Severe |
No |
Frameshift |
Lillicrap et al (unpublished) |
Aug-05 |
| Exon 17 |
1880 |
1 (C) |
<1 |
? |
Severe |
Yes |
Frameshift |
Bidichandani et al (1995) |
Dec-95 |
| Exon 17 |
1889 |
2 (TG)+ns20 (TCATCAAAGTACTTCAAAAA) |
3 |
? |
Moderate |
No |
in frame |
Liu et al (2002) |
Mar-02 |
| Exon 17 |
1899 |
1 (T) |
<1 |
? |
? |
? |
Frameshift |
Chan et al (1996) |
Dec-96 |
| Exon 17 |
1905 |
1 (A) |
<1 |
? |
Severe |
No |
Frameshift |
Waseem et al (1999) |
Aug-00 |
| Exon 18 |
1953 |
2 (AT) |
<1 |
? |
Severe |
No |
Frameshift |
Liu et al (2002) |
Mar-02 |
| Exon 18 |
1965 |
A5955-5961Del (adjusted numbering) |
? |
? |
Severe |
No |
Frameshift, unrelated |
Bicocchi et al (2005B) |
Nov-05 |
| Exon 18 |
1965 |
A5955-5961Del (adjusted numbering) |
? |
? |
Severe |
No |
Frameshift, unrelated |
Bicocchi et al (2005B) |
Nov-05 |
| Exon 18 |
1965 |
A5955-5961Del (adjusted numbering) |
? |
? |
Severe |
No |
Frameshift, unrelated |
Bicocchi et al (2005B) |
Nov-05 |
| Exon 18 |
1966-1976 |
32 (GAAA…GTAC at c.5954-5985) |
<1 |
? |
Severe |
? |
Frameshift |
Ahmed et al (2005) |
Aug-05 |
| Exon 18 |
1967-1968 |
1 (A) |
<1 |
? |
Severe |
No |
Frameshift |
Becker et al (1996) |
Aug-96 |
| Exon 18 |
1967-1968 |
1 (A) |
<1 |
? |
Severe |
No |
Frameshift |
Becker et al (1996) |
Aug-96 |
| Exon 18 |
1967-1968 |
E1969fs c.5961delA (in 6 As) |
<1 |
? |
Severe |
Yes |
Frameshift |
Bogdanova et al (2002, 2005); Leuer et al (2001) |
Dec-02 |
| Exon 18 |
1972 |
4 (5972-5975 delAATG) |
2 |
? |
Moderate |
? |
Frameshift |
Bicocchi et al (2003) |
Aug-04 |
| In18/Ex19 |
1981-2 |
23 (-18->6003) |
49 |
? |
NA (Carrier) |
NA |
Frameshift in carrier |
Theophilus et al (2001) |
Aug-01 |
| Exon 19 |
1998 |
1 (G) (First) |
<1 |
? |
Severe |
Yes |
Frameshift |
Becker et al (1996) |
Aug-96 |
| Exon 19 |
2009 |
1 (G) |
<1 |
? |
Severe |
Yes |
Frameshift |
Liu et al (2002) |
Mar-02 |
| Exon 19 |
2013 |
del C / ins TT at c.6094 |
<1 |
? |
Severe |
? |
Indel Frameshift |
Ahmed et al (2005) |
Aug-05 |
| Exon 19 |
2014 |
1 (T) |
<1 |
? |
Severe |
No |
Frameshift |
Gallardo et al (unpublished) |
Aug-03 |
| Exon 20 |
2020 |
2 (AG) |
<1 |
? |
Severe |
Yes |
Frameshift |
Gallardo et al (unpublished) |
Nov-06 |
| Exon 20 |
2021 |
16 (TCAGACTCCCCTGGGA) |
<1 |
? |
? |
No |
Frameshift |
Habart et al (2003) |
Aug-05 |
| Exon 22 |
2080 |
2 (TT) |
<1 |
<1 |
Severe |
Yes |
Frameshift |
Liu et al (2002) |
Mar-02 |
| Exon 22 |
2088-9 |
3 (GTG) |
<1 |
? |
Severe |
No |
In frame deletion of Gly 2088 |
Habart et al (2003) |
Aug-05 |
| Exon 22 |
2105-8 |
10 (TATAGTCTTG) |
<1 |
? |
Severe |
Yes |
Frameshift |
Liu et al (2002) |
Mar-02 |
| Exon 23 |
2119 |
2 (TC) |
? |
? |
Severe |
? |
Frameshift |
Kazazian et al (unpublished) |
Dec-93 |
| Exon 23 |
2136 |
2 (AA) |
? |
? |
Severe |
? |
A4>A2, Frameshift |
Higuchi et al (1991a) |
Dec-91 |
| Exon 23 |
2137 |
2 (AC) |
<1 |
? |
Severe |
? |
Frameshift |
Gallardo et al (unpublished) |
Nov-06 |
| Exon 23 |
2138 |
2 in nt 6460-61 (AA) |
<1 |
<1 |
Severe |
No |
Frameshift |
Ljung et al (unpublished) |
Jul-07 |
| Exon 23 |
2139 |
1 (T) |
<1 |
? |
Severe |
No |
Frameshift |
Liu et al (2000) |
Apr-00 |
| Exon 23 |
2146 |
1 (C) |
<1 |
? |
Severe |
Yes |
Frameshift |
Vidal et al (2001) |
Aug-01 |
| Exon 23 |
2170 |
2 |
<1 |
<1 |
Severe |
No |
Frameshift |
Ljung et al (unpublished) |
Oct-99 |
| Exon 23 |
2180 |
1 (A) |
<1 |
<1 |
Severe |
No |
Frameshift |
Ivaskevicius et al (2001) |
Aug-01 |
| Exon 24 |
2201 |
3 (GCC) |
16-33 |
20-30 |
Mild/moderate |
No |
Del Ala 2201: 2 unrelated cases |
Jacquemin et al (2001) |
Aug-01 |
| Exon 24 |
2205 |
3 (CTC or TCC) |
? |
? |
Moderate |
No |
Deletes Pro 2205 |
Economou et al (1992) |
Dec-92 |
| Exon 24 |
2205 |
3 (CTC or TCC) |
? |
? |
Moderate |
No |
Deletes Pro 2205 |
Economou et al (1992) |
Dec-92 |
| Exon 24 |
2205 |
3 (CTC or TCC) |
<1 |
? |
Severe |
No |
Deletes Pro 2205 |
Lin et al (1993) |
Dec-93 |
| Exon 24 |
2214 |
1 (G) |
<1 |
? |
Severe |
No |
Frameshift |
Becker et al (1996) |
Aug-96 |
| Exon 25 |
2227 |
1 (A) in run of 4 As (nt 6735-38) |
<1 |
? |
Severe |
No |
Frameshift |
Hill et al (2005) |
Nov-05 |
| Exon 25 |
2228 |
2 (AG or GA) |
<1 |
<1 |
Severe |
Yes |
Frameshift |
Liu et al (2002) |
Mar-02 |
| Exon 25 |
2246 |
2 (AG) |
<1 |
? |
Severe |
No |
Frameshift |
Lin et al (1993) |
Dec-93 |
| Exon 25 |
2247 |
1 (G at c.6796) |
<1 |
? |
Severe |
? |
Frameshift |
Ahmed et al (2005) |
Aug-05 |
| Exon 25 |
2256 |
1 (T) |
? |
? |
Severe |
? |
Frameshift |
Cutler et al (2002) |
Jul-03 |
| Exon 25 |
2272-3 |
TC6873-6876Del |
<1 |
? |
Severe |
No |
Frameshift |
Cutler et al (2002) |
Jul-03 |
| Exon 25 |
2272-3 |
TC6873-6876Del |
5 |
? |
? |
No |
Frameshift |
Arnold et al (unpublished) |
Jul-06 |
| Exon 25 |
2272-3 |
TC6873-6876Del |
? |
? |
Severe |
? |
Frameshift |
Leuer et al (2001) |
Jul-07 |
| Exon 25 |
2272-3 |
TC6873-6876Del (adjusted numbering) |
? |
? |
Severe |
No |
Frameshift |
Bicocchi et al (2005B) |
Nov-05 |
| Exon 25 |
2275 |
2 (6876-6881delTT) |
<1 |
? |
Severe |
? |
Frameshift |
Bicocchi et al (2003) |
Aug-04 |
| Exon 26 |
2285-2287 |
5 (AAATC) |
<1 |
? |
Severe |
No |
Frameshift |
Becker et al (1996) |
Aug-96 |
| Exon 26 |
2286 |
1 (T) |
3 |
? |
Severe |
No |
Frameshift |
Timur et al (2001) |
Oct-01 |
| Exon 26 |
2287 |
1 (C) |
? |
? |
Severe |
? |
Frameshift |
Lillicrap et al (unpublished) |
Aug-05 |
| Exon 26 |
2298-9 |
1 (C) |
<1 |
? |
Severe |
No |
Frameshift |
Lillicrap et al (unpublished) |
Oct-02 |
| Exon 26 |
2311 |
2 (CAG>G) |
2 |
? |
Severe |
No |
Frameshift |
Goodeve et al (2000) |
Feb-01 |
| Exon 26 |
2311 |
1 (C) |
<1 |
<1 |
Severe |
No |
Frameshift |
Ljung et al (unpublished) |
Jul-07 |
| Exon 26 |
2314 |
1 (GTG>TG) |
<1 |
? |
Severe |
No |
Frameshift |
Goodeve et al (2000) |
Feb-01 |
| Exon 26 |
2319 |
1 (C) |
? |
? |
Severe |
? |
Frameshift |
Klopp et al (2002) |
Dec-02 |
| Exon 26 |
2326-28 |
8 (7033-40) |
1 |
? |
Severe |
No |
Also has Glu113->Asp |
Theophilus et al (2001) |
Aug-01 |
| Exon 26 |
2333 |
del T nt 7054 in TGA stop codon |
6 |
? |
Mild |
? |
Loss of termination signal |
Nesbitt et al (unpublished) |
Aug-05 |
|
|
|
|
|
|
|
|
|
|