| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Ala6Ala |
c.18C>T |
2 |
6 |
Ju, NM, RP |
|
Small rearrangement |
Ts |
C->T |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 1931 |
04-LA21-J05-981 | Female |
|
LIKELY NEUTRAL |
|
0 |
|
| p.Ala403Ala |
c.1209C>A |
9 |
403 |
Ju,Pem,NM,RP,HD,CH |
|
Small rearrangement |
Tv |
C->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 1641 |
02-DE19-M01R-943 | Male |
Heterozygous |
UV |
|
0 |
|
| p.Ala464Ala |
c.1392G>A |
10 |
464 |
Pem,NM,CH |
|
Small rearrangement |
Ts |
G->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 1227 |
03-CA03-J05S-985 | Female |
Heterozygous |
LIKELY NEUTRAL |
|
0 |
|
| p.Ala465Ala |
c.1395C>T |
10 |
465 |
Pem,NM,CH |
|
Small rearrangement |
Ts |
C->T |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 1860 |
04-NI03-F01B-978 | Male |
Heterozygous |
LIKELY NEUTRAL |
|
0 |
|