| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Pro188Leu |
c.563C>T |
3 |
188 |
Ju,Sm,NMH,HD,NM |
|
Small rearrangement |
Ts |
C->T |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 508 |
03-DU18-D26E-970 | Male |
Heterozygous |
UV |
|
0 |
|
| p.Pro277Leu |
c.830C>T |
6 |
277 |
Sm,NM,NMH,FA,HD |
|
Small rearrangement |
Ts |
C->T |
5  |
|
|
| p.Pro320Leu |
c.959C>T |
7 |
320 |
NF,NM,RP,FA,HD |
|
Small rearrangement |
Ts |
C->T |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 1623 |
02-CH05-Y21N-971 | Female |
Heterozygous |
CAUSAL |
|
35 |
|
| p.Pro470Leu |
c.1409C>T |
10 |
470 |
Pem,NM,CH |
|
Small rearrangement |
Ts |
C->T |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 1975 |
04-VE18-I19-984 | Male |
|
NEUTRAL |
|
0 |
|
| p.Pro514Leu |
c.1541C>T |
10 |
514 |
Sm3,CH |
|
Small rearrangement |
Ts |
C->T |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 1192 |
03-MA26-A13A-978 | Female |
Heterozygous |
LIKELY NEUTRAL |
W12 |
0 |
|