| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Gly111delinsGly |
c.331_332dup |
2 |
111 |
Sm, NM |
|
Small rearrangement |
Fr. |
Ins |
6  |
|
|
| p.Val112CysfsX5 |
c.332dup |
2 |
111 |
Sm, NM |
|
Small rearrangement |
Fr. |
Stop at 116 |
2  |
|
|
| p.Lys201ThrfsX24 |
c.600_601dup |
3 |
200 |
Ju,Sm,NMH,HD,NM |
|
Small rearrangement |
Fr. |
Stop at 224 |
15  |
|
|
| p.Gln450ThrfsX81 |
c.1346dup |
9 |
449 |
Pem,NM,HD,CH |
|
Small rearrangement |
Fr. |
Stop at 530 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 909 |
03-BE12-C08R-973 | Female |
Heterozygous |
CAUSAL |
|
0 |
|
| p.Glu473ArgfsX58 |
c.1415dup |
10 |
472 |
Pem,NM,CH |
|
Small rearrangement |
Fr. |
Stop at 530 |
3  |
|
|
| p.Val511ArgfsX51 |
c.1519_1526dup |
10 |
507 |
Sm3,CH |
|
Small rearrangement |
Fr. |
Stop at 561 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 185 |
04-DU18-C05L-988 | Female |
Heterozygous |
CAUSAL |
|
0 |
|
| p.Ala510ProfsX23 |
c.1520_1526dup |
10 |
507 |
Sm3,CH |
|
Small rearrangement |
Fr. |
Stop at 532 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 1652 |
02-DU18-C05L-988 | Female |
Heterozygous |
CAUSAL |
|
0 |
|