| Variation type |
Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Lys345AsnfsX24 |
c.1035insT |
5 |
345 |
|
|
Small rearrangement |
Fr. |
Stop at 368 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Disease |
References |
| 50 |
V.7 | |
Homozygous |
ISRAEL |
|
5 |
|
| p.Lys1198ArgfsX4 |
c.3591_3592dup |
18 |
1198 |
|
|
Small rearrangement |
Fr. |
Stop at 1201 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Disease |
References |
| 21 |
CS177VI | |
Heterozygous |
FRANCE |
|
0 |
|
| p.1203_Lys1203dup |
c.3607ins26 ? |
18 |
1203 |
|
|
Small rearrangement |
Fr. |
Ins |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Disease |
References |
| 51 |
CS1ABR | |
Heterozygous |
AUSTRALIA |
|
4 |
|