BRCA1 |
|
|
|
|
|
|
Gammel nomenklatur |
Ny nomenklatur |
|
|
|
Exon |
Sekvensvariant |
Proteineffekt |
Sekvensvariant |
Proteineffekt |
|
11 |
1675delA |
531X |
c.1556delA |
p.Lys519ArgfsX13 |
|
11 |
3347delAG |
1084X |
c.3228_3229delAG |
p.Gly1077AlafsX8 |
|
11 |
816delGT |
236X |
c.697_698delGT |
p.Val233AsnfsX4 |
|
11 |
1135insA |
345X |
c.1016dupA |
p.Val340GlyfsX6 |
|
11 |
3297G>T |
E1060X |
c.3178G>T |
p.Glu1060X |
|
2 |
120A>G |
M1V |
c.1A>G |
p.0 |
|
11 |
3203delTAATAACATTA |
1033X |
c.3084_3094delTAATAACATTA |
p.Asn1029ArgfsX5 |
|
11 |
2470delCGTTACT |
789X |
c.2351_2357delCGTTACT |
p.Ser784TrpfsX6 |
|
16 |
4864delA |
1600X |
c.4745delA |
p.Asp1582AlafsX19 |
|
11 |
1191delC |
373X |
c.1072delC |
p.Leu358CysfsX16 |
|
11 |
4184delTCAA |
1364X |
c.4065_4068delTCAA |
p.Asn1355LysfsX10 |
|
11 |
3726C>T |
R1203X |
c.3607C>T |
p.Arg1203X |
|
IVS17 |
5194-2A>C |
|
c.5075-2A>C |
|
|
8-13 |
del exon 8-13 |
|
c.442-1898_4358-1400del23763 |
|
|
20 |
5382insC |
1829X |
c.5266dupC |
p.Gln1756ProfsX74 |
|
17 |
5166G>T |
E1683X |
c.5047G>T |
p.Glu1683X |
|
1-13 |
del exon 1-13 |
|
|
|
|
11 |
3450delCAAG |
1115X |
c.3331_3334delCAAG |
p.Gln1111AsnfsX5 |
|
11 |
3171insTGAGA |
1023X |
c.3048_3052dupTGAGA |
p.Asn1018MetfsX6 |
|
13 |
dup exon 13 |
1460X |
c.4186-1787_4358-1668dup6081 |
|
|
11 |
1569G>T |
G484X |
c.1450G>T |
p.Gly484X |
|
24 |
5630G>A |
W1837X |
c.5511G>A |
p.Trp1837X |
|
IVS22 |
5526-25T>A |
|
c.5407-25T>A |
|
|
|
|
|
|
|
BRCA2 |
|
|
|
|
|
|
Gammel nomenklatur |
Ny nomenklatur |
|
|
|
Exon |
Sekvensvariant |
Proteineffekt |
Sekvensvariant |
Proteineffekt |
|
11 |
5445delTTTAAGT |
1739X |
c.5217_5223delTTTAAGT |
p.Tyr1739X |
|
11 |
4075delGT |
1284X |
c.3847_3848delGT |
p.Val1283LysfsX2 |
|
11 |
3036delACAA |
958X |
c.2808_2811delACAA |
p.Ala938ProfsX21 |
|
11 |
5049delTGAinsC |
1613X |
c.4821_4823delinsC |
p.Glu1608AspfsX6 |
|
IVS18+2T>C* OBS samme som under? |
8559+2T>C |
|
c.8331+2T>C |
|
|
IVS23 |
9346-2A>G = IVS23-2A>G |
|
c.9118-2A>G |
|
|
10 |
2024delCTTAT |
599X |
c.1796_1800delCTTAT |
p.Ser599X |
|
11 |
2275delTCTC |
728X |
c.2047_2050delTCTC |
p.Ser683ArgfsX46 |
|
18 |
8551dupA* |
|
c.8323dupA |
p.Met2775AsnfsX7 |
|
20 |
dup exon 20 |
|
c.8432_8632+473dup1072 |
|
