| Insertions in the factor VIII gene causing haemophilia A |
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08-May-12 |
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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.
Met-19 becomes Met+1 but Arg+3 becomes Arg+22. |
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| Nucleotide
numbering where given should conform to the convention that "A" in
initiation codon ATG = +1 |
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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 |
Nature of Insertion |
FVIII:C |
FVIII:Ag |
Severity |
Inhibitors |
Comments |
Reference |
Date added to HADB |
|
| 1 |
1bp (T at codon 24) |
<1 |
? |
Severe |
No |
frameshift |
Silva Pinto et al (unpublished) |
Aug-04 |
|
| 2 |
10bp (TTCCATTCAA at codon 38) |
<1 |
? |
Severe |
? |
frameshift |
Lin et al (1993) |
Dec-93 |
|
| 2 |
1bp (A in 5As at codons 47-48) |
<1 |
? |
Severe |
? |
frameshift |
Lillicrap et al (unpublished) |
Aug-05 |
|
| 2 |
2bp (GA at codon 48-9) nt 203-4 |
<1 |
? |
Severe |
Yes |
frameshift |
Habart et al (2003) |
Aug-05 |
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| 2 |
del G ins TT (GT>TTT at codon 103) nt 358-9 |
<1 |
? |
? |
No |
indel frameshift |
Habart et al (2003) |
Aug-05 |
|
| 4 |
9bp(GTCTTCCCT at codon 130) |
2 |
? |
Moderate |
No |
in frame deletion |
Ljung et al (unpublished) |
Jul-07 |
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| 4 |
8bp (TCAAGATA at nt 514) |
<1 |
? |
Severe |
No |
frameshift |
Timur et al (2001) |
Oct-01 |
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| 5 |
1bp (T at codon 195) |
? |
? |
Severe |
? |
frameshift |
Lillicrap et al (unpublished) |
Oct-02 |
|
| 6 |
2bp (GTA>GTCCA at codon 238) |
<1 |
? |
Severe |
No |
frameshift |
Goodeve et al (2000) |
Feb-01 |
|
| 6 |
23bp (GGTTATGTAAACAGGTCTCTGCC at codon 243) |
<1 |
? |
Severe |
No |
frameshift |
Liu et al (2002) |
Mar-02 |
|
| 7 |
1bp (A at codon 267) nt 858 |
? |
? |
? |
No |
frameshift |
Habart et al (2003) |
Aug-05 |
|
| 8 |
1bp (T at codon 339) |
<1 |
? |
Severe |
Yes |
frameshift |
Tagariello et al (unpublished) |
Apr-00 |
|
| 9 |
1bp (C at codons 426-427) |
<1 |
? |
Severe |
No |
frameshift |
Lillicrap et al (unpublished) |
Aug-05 |
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| 9 |
1bp (A at codon 429) |
<1 |
? |
Severe |
No |
frameshift |
Gallardo et al (unpublished) |
Nov-06 |
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| 9 |
1bp (C at codon 453) |
? |
? |
Severe |
? |
frameshift |
Cutler et al (2002) |
Mar-02 |
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| 9 |
1bp (A at nt 1441, codon 462) |
? |
? |
Severe |
? |
frameshift |
Leuer et al (2001) |
Jul-07 |
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| 9 |
2bp (TG at nt 1443, codon 462) |
? |
? |
Severe |
? |
frameshift |
Leuer et al (2001) |
Jul-07 |
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| 11 |
1bp (G at codon 513) |
? |
? |
Severe |
? |
frameshift |
Economou et al (1992) |
Dec-92 |
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| 12 |
3bp (ATC at codon 613) |
<1 |
? |
Severe |
No |
in-frame |
Lavergne et al (unpublished) |
Dec-94 |
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| 13 |
ins A del TG at codon 622 |
<1 |
? |
Severe |
? |
indel frameshift |
Gallardo et al (unpublished) |
Nov-06 |
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| 13 |
1bp (A at codon 669) |
<1 |
? |
Severe |
No |
frameshift |
Seehafer et al (unpublished) |
Dec-94 |
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| 13 |
duplication of exon 13 by illegitimate recombination |
10 |
? |
Mild |
No |
in-frame |
Casula et al, Murru et al (1990); Acquila et al, 2004A |
Dec-90 |
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| 14 |
Alu repeat |
? |
? |
Severe |
? |
large insertion |
Sukarova et al (2001) |
Mar-02 |
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| 14 |
3.8 Kb LINE element |
? |
? |
Severe |
? |
large insertion |
Kazazian et al (1988) |
Dec-88 |
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| 14 |
2.1 Kb LINE element |
? |
? |
Severe |
Yes |
large insertion |
Kazazian et al (1988) |
Dec-88 |
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| 14 |
1bp (A at codon 704-5) nt 2164 |
<1 |
? |
? |
No |
frameshift |
Habart et al (2003) |
Aug-05 |
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| 14 |
5bp (AAATG at codon 706-7) nt 2176-2180 |
<1 |
? |
? |
No |
frameshift |
Habart et al (2003) |
Aug-05 |
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| 14 |
c.2208_2214del / c.2207_2215insCTCTT Y718fs |
<1 |
? |
Severe |
Yes |
indel frameshift |
Bogdanova et al (2002, 2005) |
Dec-02 |
|
| 14 |
1bp (G at codon 772) |
<1 |
<1 |
Severe |
No |
frameshift |
Ivaskevicius et al (2001) |
Aug-01 |
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| 14 |
13bp duplication at codons 836-840 |
<1 |
? |
Severe |
No |
frameshift |
Fidalgo et al (unpublished) |
Aug-04 |
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| 14 |
1bp (T at codon 833), del GA |
1 |
? |
Severe |
No |
frameshift |
Lillicrap et al (unpublished) |
Dec-97 |
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| 14 |
1bp (T at codon 847) |
<1 |
? |
Severe |
No |
frameshift |
Gallardo et al (unpublished) |
Nov-06 |
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| 14 |
del GGGACAACT/ins CTGCAGTT at 864-6 |
<1 |
<1 |
Severe |
Yes |
indel |
Nakaya et al (2001) |
Mar-02 |
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| 14 |
delGACA insCAATTAAATGAGAA |
<1 |
? |
Severe |
No |
indel |
Jayandharan et al (2005) |
Aug-07 |
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| 14 |
13bp duplication at codons 883-887 |
? |
? |
Severe |
? |
frameshift |
Laprise et al (1998) |
Jan-99 |
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| 14 |
1bp (T at nt2739, codon 894) |
<1 |
<1 |
Severe |
No |
frameshift |
Ljung et al (unpublished); Leuer et al (2001) |
Oct-99 |
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| 14 |
insA Lys>fs (TGA-984) |
<1 |
? |
Severe |
No |
frameshift |
Jayandharan et al (2005) |
Aug-07 |
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| 14 |
N963fs c.2945dupA |
<1 |
? |
Severe |
No |
frameshift |
Naylor et al (1993b) |
Dec-93 |
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| 14 |
N963fs c.2945dupA |
<1 |
? |
Severe |
No |
frameshift |
Nakaya et al (2001) |
Mar-02 |
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| 14 |
N963fs c.2945dupA |
<1 |
? |
Severe |
No |
frameshift |
Bogdanova et al (2002, 2005) |
Dec-02 |
|
| 14 |
N963fs c.2945dupA |
<1 |
? |
Severe |
No |
frameshift |
Silva Pinto et al (unpublished) |
Aug-04 |
|
| 14 |
N963fs c.2945dupA |
<1 |
? |
? |
No |
frameshift |
Habart et al (2003) |
Aug-05 |
|
| 14 |
N963fs c.2945dupA |
1 |
? |
Severe |
No |
frameshift |
Lillicrap et al (unpublished) |
Aug-05 |
|
| 14 |
N963fs c.2945dupA |
<1 |
? |
Severe |
No |
frameshift |
Bogdanova et al (2005) |
Jul-06 |
|
| 14 |
N963fs c.2945dupA |
1 |
? |
Severe |
No |
frameshift |
Arnold et al (unpublished) |
Jul-06 |
|
| 14 |
2bp (TC at codon 1031-2) |
<1 |
<1 |
Severe |
Yes |
frameshift |
Nakaya et al (2001) |
Mar-02 |
|
| 14 |
N1073fs c.3275dupA |
<1 |
? |
Severe |
No |
frameshift |
Hill et al (2005) |
Nov-05 |
|
| 14 |
N1073fs c.3275dupA |
<1 |
? |
Severe |
No |
frameshift |
Bogdanova et al (2005) |
Jul-06 |
|
| 14 |
1bp (A in 6As at codon 1080-1) |
? |
? |
Severe |
No |
frameshift |
Pieneman et al (1995) |
Jun-96 |
|
| 14 |
1bp (A in 6As at codon 1080-1) |
1 |
? |
Moderate |
Yes |
frameshift |
Nakaya et al (2001) |
Mar-02 |
|
| 14 |
1bp (A in 6As at codon 1080-1) |
? |
? |
Severe |
No |
frameshift |
Klopp et al (2002) |
Dec-02 |
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| 14 |
16bp dupl (GGGCCCCATTCCACCA) at codon 1082-1087 |
<1 |
? |
Severe |
? |
frameshift |
Ahmed et al (2005) |
Aug-05 |
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| 14 |
8bp (AAAGAGGG at codon 1083) |
<1 |
? |
Severe |
No |
frameshift |
Fernandez-Lopez et al (2005) |
Jul-07 |
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| 14 |
1bp (T at codon 1100) |
<1 |
? |
Severe |
Yes |
frameshift |
Cutler et al (2002) |
May-02 |
|
| 14 |
1bp (T at codon 1120) |
? |
? |
Severe |
? |
frameshift |
Klopp et al (2002) |
Dec-02 |
|
| 14 |
1bp (AA>AAA at codon 1169-70) |
<1 |
<1 |
Severe |
Yes |
frameshift |
Nakaya et al (2001) |
Mar-02 |
|
| 14 |
5bp (AAACC at codons 1172 or 1174) |
? |
? |
? |
No |
frameshift |
Lillicrap et al (unpublished) |
Oct-02 |
|
| 14 |
1bp (A in 9As at codon 1191-4) 3637_3638insA |
? |
? |
Severe |
? |
frameshift |
Pieneman et al (1995) |
Jun-96 |
|
| 14 |
1bp (A in 9As at codon 1191-4) 3637_3638insA |
? |
? |
Severe |
? |
frameshift |
Becker et al (1996) |
Aug-96 |
|
| 14 |
1bp (A in 9As at codon 1191-4) 3637_3638insA |
<1 |
? |
Severe |
No |
frameshift |
Freson et al (1998) |
Apr-99 |
|
| 14 |
1bp (A in 9As at codon 1191-4) 3637_3638insA |
1,2,3 |
25 (post) |
Moderate |
No |
frameshift |
Nakaya et al (2001) |
Mar-02 |
|
| 14 |
1bp (A in 9As at codon 1191-4) 3637_3638insA |
1,5 |
1 |
Moderate |
No |
frameshift |
Nakaya et al (2001) |
Mar-02 |
|
| 14 |
1bp (A in 9As at codon 1191-4) 3637_3638insA |
1-2 |
<1 |
Moderate |
No |
frameshift |
Nakaya et al (2001) |
Mar-02 |
|
| 14 |
1bp (A in 9As at codon 1191-4) 3637_3638insA |
<1-1 |
<1 |
Severe |
No |
frameshift |
Nakaya et al (2001) |
Mar-02 |
|
| 14 |
1bp (A in 9As at codon 1191-4) 3637_3638insA |
1 |
? |
Severe |
No |
frameshift |
Lillicrap et al (unpublished) |
Oct-02 |
|
| 14 |
1bp (A in 9As at codon 1191-4) 3637_3638insA |
<1 |
? |
Severe |
No |
frameshift |
Lillicrap et al (unpublished) |
Oct-02 |
|
| 14 |
1bp (A in 9As at codon 1191-4) 3637_3638insA |
<1 |
? |
Severe |
No |
frameshift |
Lillicrap et al (unpublished) |
Oct-02 |
|
| 14 |
1bp (A in 9As at codon 1191-4) 3637_3638insA |
1 |
? |
Severe |
No |
frameshift |
Lillicrap et al (unpublished) |
Oct-02 |
|
| 14 |
1bp (A in 9As at codon 1191-4) 3637_3638insA |
<1 |
? |
Severe |
? |
frameshift |
Lillicrap et al (unpublished) |
Aug-05 |
|
| 14 |
1bp (A in 9As at codon 1191-4) 3637_3638insA |
? |
? |
Severe |
No |
frameshift |
Klopp et al (2002) |
Dec-02 |
|
| 14 |
1bp (A in 9As at codon 1191-4) 3637_3638insA |
3 |
4 |
Severe |
? |
frameshift |
Cai et al (2006) |
Jun-07 |
|
| 14 |
1bp (A in 9As at codon 1191-4) 3637_3638insA |
<1 |
<1 |
Severe |
No |
frameshift |
Ljung et al (unpublished) |
Jul-07 |
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| 14 |
1bp (A in 9As at codon 1191-4) 3637_3638insA Ile>fs
TAA-1220 |
<1 |
? |
Severe |
No |
frameshift |
Jayandharan et al (2005) |
Aug-07 |
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| 14 |
1bp (A in 7As at codons 1269-71) |
9 |
? |
Mild |
No |
misread rescue? |
Frusconi et al (2002) |
Nov-02 |
|
| 14 |
1bp (A in 7As at codons 1269-71) |
<1 |
? |
Severe |
Yes |
frameshift |
Hill et al (2005) |
Nov-05 |
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| 14 |
2bp (AA at codon 1324) |
<1 |
? |
Severe |
? |
frameshift |
Lin et al (1993) |
Dec-93 |
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| 14 |
4 and 1bp (ATCT at codon 1372, T at 1373) |
<1 |
? |
Severe |
No |
frameshift |
Williams et al (1998) |
Jul-98 |
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| 14 |
1bp (TCA to TCAA at codon 1395) |
<1 |
? |
Severe |
? |
frameshift |
Higuchi et al (1991b) |
Dec-91 |
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| 14 |
c.4329_4330insA
p.D1425fsX18 |
<1 |
? |
Severe |
No |
frameshift |
Riccardi et al (unpublished) |
Nov-05 |
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| 14 |
1bp (G in 4Gs at codon 1427-8) |
<1 |
? |
Severe |
No |
frameshift |
Vidal et al (2001) |
Aug-01 |
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| 14 |
c.4379_4380insA p.N1441KfsX2 |
<1 |
? |
Severe |
? |
frameshift |
Higuchi et al (1991b) |
Dec-91 |
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| 14 |
c.4379_4380insA p.N1441KfsX2 |
1.4 |
1.0 |
Severe |
No |
frameshift |
David et al (1994) |
Dec-95 |
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| 14 |
c.4379_4380insA p.N1441KfsX2 |
? |
? |
Severe |
No |
frameshift |
Pieneman et al (1995) |
Jun-96 |
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| 14 |
c.4379_4380insA p.N1441KfsX2 |
<1 |
? |
Severe |
No |
frameshift |
Freson et al (1998) |
Apr-99 |
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| 14 |
c.4379_4380insA p.N1441KfsX2 |
<1 |
? |
Severe |
No |
frameshift |
Goodeve et al (2000) |
Feb-01 |
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| 14 |
c.4379_4380insA p.N1441KfsX2 |
3 |
? |
Moderate |
No |
frameshift |
Akkarapatumwong et al (2000) |
Feb-01 |
|
| 14 |
c.4379_4380insA p.N1441KfsX2 |
<1 |
<1 |
Severe |
? |
frameshift |
Ljung et al (unpublished) |
Oct-99 |
|
| 14 |
c.4379_4380insA p.N1441KfsX2 |
<1 |
<1 |
Severe |
No |
frameshift |
Ivaskevicius et al (2001) |
Aug-01 |
|
| 14 |
c.4379_4380insA p.N1441KfsX2 |
<1 |
<1 |
Severe |
No |
frameshift |
Ivaskevicius et al (2001) |
Aug-01 |
|
| 14 |
c.4379_4380insA p.N1441KfsX2 |
<1 |
<1 |
Severe |
No |
frameshift |
Nakaya et al (2001) |
Mar-02 |
|
| 14 |
c.4379_4380insA p.N1441KfsX2 |
1,2,4 |
<1 |
Moderate |
No |
frameshift |
Nakaya et al (2001) |
Mar-02 |
|
| 14 |
c.4379_4380insA p.N1441KfsX2 |
<1 |
? |
Severe |
No |
frameshift |
Nakaya et al (2001) |
Mar-02 |
|
| 14 |
c.4379_4380insA p.N1441KfsX2 |
<1 |
? |
Severe |
No |
frameshift |
Nakaya et al (2001) |
Mar-02 |
|
| 14 |
c.4379_4380insA p.N1441KfsX2 |
<1 |
? |
Severe |
No |
frameshift |
Cutler et al (2002) |
Aug-02 |
|
| 14 |
c.4379_4380insA p.N1441KfsX2 |
<1 |
? |
Severe |
No |
frameshift |
Lillicrap et al (unpublished) |
Oct-02 |
|
| 14 |
c.4379_4380insA p.N1441KfsX2 |
<1 |
? |
Severe |
No |
frameshift |
Lillicrap et al (unpublished) |
Oct-02 |
|
| 14 |
c.4379_4380insA p.N1441KfsX2 |
1 |
? |
Severe |
No |
frameshift |
Lillicrap et al (unpublished) |
Oct-02 |
|
| 14 |
c.4379_4380insA p.N1441KfsX2 |
<1 |
? |
Severe |
No |
frameshift |
Lillicrap et al (unpublished) |
Oct-02 |
|
| 14 |
c.4379_4380insA p.N1441KfsX2 |
<1 |
? |
Severe |
No |
frameshift |
Lillicrap et al (unpublished) |
Aug-05 |
|
| 14 |
c.4379_4380insA p.N1441KfsX2 |
? |
? |
Severe |
No |
frameshift |
Klopp et al (2002) |
Dec-02 |
|
| 14 |
c.4379_4380insA p.N1441KfsX2 |
<1 |
? |
? |
? |
frameshift |
Citron et al (2002) |
Aug-03 |
|
| 14 |
c.4379_4380insA p.N1441KfsX2 |
<1 |
? |
? |
No |
frameshift |
Habart et al (2003) |
Aug-05 |
|
| 14 |
c.4379_4380insA p.N1441KfsX2 |
<1 |
? |
? |
No |
frameshift |
Habart et al (2003) |
Aug-05 |
|
| 14 |
c.4379_4380insA p.N1441KfsX2 |
? |
? |
Severe |
? |
frameshift |
Western et al (unpublished) |
Aug-05 |
|
| 14 |
c.4379_4380insA p.N1441KfsX2 |
<1 |
? |
Severe |
No |
frameshift |
Riccardi et al (unpublished) |
Nov-05 |
|
| 14 |
c.4379_4380insA p.N1441KfsX2 |
1 |
? |
Severe |
No |
frameshift |
Arnold et al (unpublished) |
Jul-06 |
|
| 14 |
c.4379_4380insA p.N1441KfsX2 |
<1 |
? |
Severe |
? |
frameshift |
Gallardo et al (unpublished) |
Nov-06 |
|
| 14 |
c.4379_4380insA p.N1441KfsX2 |
<1 |
? |
Severe |
No |
frameshift |
Acquila et al (2004B) |
Jul-07 |
|
| 14 |
c.4379_4380insA p.N1441KfsX2 |
<1 |
<1 |
Severe |
No |
frameshift |
Ljung et al (unpublished) |
Jul-07 |
|
| 14 |
insA 1441 |
<1 |
? |
Severe |
No |
frameshift |
Jayandharan et al (2005) |
Aug-07 |
|
| 14 |
insA 1441 |
<1 |
? |
Severe |
No |
frameshift |
Jayandharan et al (2005) |
Aug-07 |
|
| 14 |
31bp (after codon 1485) |
<1 |
? |
Severe |
No |
frameshift |
Cutler et al (2002) |
Aug-02 |
|
| 14 |
1bp (A at codon 1495; nt4542) |
<1 |
? |
? |
? |
frameshift |
Citron et al (2002) |
Aug-03 |
|
| 14 |
1bp (A at codon 1495; nt4542) |
<1 |
? |
? |
? |
frameshift |
Citron et al (2002) |
Aug-03 |
|
| 14 |
c.4665_4688del / 4664_4689insAAGGAA N1536fs |
<1 |
? |
Severe |
Yes |
indel frameshift |
Bogdanova et al (2002, 2005) |
Dec-02 |
|
| 14 |
del AT ins G (AAAAT>AAAG at codon 1543) nt 4683 |
<1 |
? |
? |
No |
indel frameshift |
Habart et al (2003) |
Aug-05 |
|
| 14 |
T1590fs c.4825dupA |
<1 |
? |
Severe |
? |
frameshift |
Lin et al (1993) |
Dec-93 |
|
| 14 |
T1590fs c.4825dupA |
<1 |
? |
Severe |
No |
frameshift |
Freson et al (1998) |
Apr-99 |
|
| 14 |
T1590fs c.4825dupA |
<1 |
? |
Severe |
No |
frameshift |
Goodeve et al (2000) |
Feb-01 |
|
| 14 |
T1590fs c.4825dupA |
<1 |
? |
Severe |
No |
frameshift |
Nakaya et al (2001) |
Mar-02 |
|
| 14 |
T1590fs c.4825dupA |
<1 |
<1 |
Severe |
No |
frameshift |
Nakaya et al (2001) |
Mar-02 |
|
| 14 |
T1590fs c.4825dupA |
0.8 |
? |
Severe |
No |
frameshift |
Lillicrap et al (unpublished) |
Oct-02 |
|
| 14 |
T1590fs c.4825dupA |
<1 |
? |
Severe |
No |
frameshift |
Bogdanova et al (2002, 2005) |
Dec-02 |
|
| 14 |
T1590fs c.4825dupA |
? |
? |
Severe |
Yes |
frameshift |
Klopp et al (2002) |
Dec-02 |
|
| 14 |
T1590fs c.4825dupA |
<1 |
? |
Severe |
No |
frameshift |
Gallardo et al (unpublished) |
Aug-03 |
|
| 14 |
T1590fs c.4825dupA |
1 |
? |
? |
No |
frameshift |
Habart et al (2003) |
Aug-05 |
|
| 14 |
T1590fs c.4825dupA |
<1 |
? |
Severe |
? |
frameshift |
Ahmed et al (2005) |
Aug-05 |
|
| 14 |
1bp (T) at codon 1613: stop at 1615 |
<1 |
? |
Severe |
No |
frameshift |
Acquila et al (2004B) |
Jul-07 |
|
| 14 |
1bp (A at codon 1645; nt4991) |
<1 |
? |
? |
? |
frameshift |
Citron et al (2002) |
Aug-03 |
|
| 14 |
1bp (A at codon 1645; nt4991) |
<1 |
? |
? |
? |
frameshift |
Citron et al (2002) |
Aug-03 |
|
| 14 |
ins 2bp (TG in codon 1667-71), del ATATCAGTTGAA |
<1 |
? |
Severe |
No |
indel frameshift |
Lillicrap et al (unpublished) |
Oct-02 |
|
| 14 |
2bp(TC at codon 1686) |
1 |
7 |
Sev/Mod |
No |
frameshift |
Ljung et al (unpublished) |
Jul-07 |
|
| 14 |
41bp Frameshift |
<1 |
? |
Severe |
No |
frameshift |
Gallardo et al (unpublished) |
Aug-00 |
|
| 17 |
1bp (T at codon 1855) |
<1 |
? |
Severe |
No |
frameshift |
Becker et al (1996) |
Aug-96 |
|
| 17 |
4bp (TGAA at codons 1863-1864) |
1 |
? |
Severe |
No |
frameshift |
Lillicrap et al (unpublished) |
Aug-05 |
|
| 17 |
1bp (T at codon 1880) |
? |
? |
Severe |
? |
frameshift |
Klopp et al (2002) |
Dec-02 |
|
| 17 |
1bp (A in 4As at codon 1888) |
? |
? |
Severe |
? |
frameshift |
Higuchi et al (1991b) |
Dec-91 |
|
| 17 |
del TG & ins 20 (TCATCAAAGTACTTCAAAAA in codon 1888) |
3 |
? |
Moderate |
No |
in-frame indel |
Liu et al (2002) |
Mar-02 |
|
| 18 |
2bp (TA in codon 1934) |
<1 |
? |
Severe |
? |
frameshift |
Yenchitsomanus et al (2003) |
Aug-04 |
|
| 18 |
1bp (A in codon 1956) |
<1 |
<1 |
Severe |
No |
frameshift |
Pieneman et al (1995) |
Jun-96 |
|
| 18 |
1bp (A in 7As in codon 1966-9) |
<1 |
<1 |
Severe |
No |
frameshift |
Pieneman et al (1995) |
Jun-96 |
|
| 18 |
1bp (A in 7As in codon 1966-9) |
<1 |
<1 |
Severe |
Yes |
frameshift |
Liu et al (1998) |
Mar-99 |
|
| 18 |
4bp (GGAG in codon 1971) |
? |
? |
Severe |
Yes |
frameshift |
Klopp et al (2002) |
Dec-02 |
|
| 19 |
1bp (C in codon 2005) |
2 |
? |
Moderate |
? |
frameshift |
Ahmed et al (2005) |
Aug-05 |
|
| 19 |
1bp (G in codon 2011) |
<1 |
? |
Severe |
No |
frameshift |
Gallardo et al (unpublished) |
Aug-03 |
|
| 19 |
del C / ins TT at codon 2013 (c.6094) |
<1 |
? |
Severe |
? |
indel frameshift |
Ahmed et al (2005) |
Aug-05 |
|
| 19 |
Alu Yb9 element insertion into intron 19 |
<1 |
? |
Severe |
? |
exon 19 skip |
Ganguly et al (2003) |
Jun-07 |
|
| 20 |
1bp (ATG>AATG codon 2027) |
2 |
? |
Severe |
? |
frameshift |
Nesbitt et al (unpublished) |
Feb-01 |
|
| 20 |
c.6165_6166dupGA p.I2037RfsX40 |
<1 |
? |
Severe |
No |
frameshift |
Riccardi et al (unpublished) |
Oct-06 |
|
| 21 |
S2069fs c.6202_6257dup |
<1 |
? |
Severe |
No |
frameshift |
Bogdanova et al (2002, 2005) |
Dec-02 |
|
| 22 |
2bp (AC in codon 2088) |
<1 |
<1 |
Severe |
No |
frameshift |
Pieneman et al (1995) |
Jun-96 |
|
| 22 |
2bp (CA in codon 2098) |
<1 |
? |
Severe |
Yes |
frameshift |
Gallardo et al (unpublished) |
Aug-03 |
|
| 22 |
1bp(A at codon 2101) |
<1 |
<1 |
Severe |
No |
frameshift |
Ljung et al (unpublished) |
Jul-07 |
|
| 24 |
1bp (A in codon 2184-5) |
<1 |
0 |
Severe |
No |
frameshift |
Liu et al (2000) |
Apr-00 |
|
| 24 |
1bp (A in codon 2199) |
<1 |
? |
? |
? |
frameshift |
Chan et al (1996) |
Dec-96 |
|
| 25 |
CAA
inframe insertion of Gln after Val 2243 |
2 |
? |
Moderate |
? |
in-frame |
Bicocchi et al (2003) |
Aug-04 |
|
| 25 |
4bp (ACTA) in codon 2245 |
<1 |
? |
Severe |
Yes |
frameshift |
Akkarapatumwong et al (1999) |
Nov-99 |
|
| 25 |
insertion/deletion |
<1 |
? |
? |
? |
indel |
Citron et al (2002) |
Jul-03 |
|
|
|
|
|
|
|
|
|
|
|
|