| cDNA Nomenclature |
exon |
mRNA nomenclature |
Protein nomenclature |
Functional Domain |
Biological significance |
Variation class |
Variation type |
Validation by |
Validation date |
# records |
| c.IVS1-39C>G (c.1-39C>G) |
2 |
|
p.Met1? |
Ju, NM, RP |
1-Neutral |
1 - Neutral |
Benign |
TENGEN |
1/05/18 |
1  |
| UMD_id |
Sample ID |
Gender |
Biological significance |
Variation class |
Family ID |
References |
| 1651 |
02-BO18-C01R-979 | Female |
1-Neutral |
Benign |
|
0 |
|
| c.121C>T |
2 |
|
p.Leu41Leu |
Sm, NM |
1-Neutral |
1 - Neutral |
NEUTRAL |
TENGEN |
9/04/21 |
1  |
| UMD_id |
Sample ID |
Gender |
Biological significance |
Variation class |
Family ID |
References |
| 1935 |
04-CO19-M01-945 | Female |
1-Neutral |
NEUTRAL |
|
0 |
|
| c.435C>T |
2 |
|
p.Ser145Ser |
Ju, Sm,NM,HD |
1-Neutral |
1 - Neutral |
Polymorphism |
TENGEN |
1/05/18 |
1  |
| UMD_id |
Sample ID |
Gender |
Biological significance |
Variation class |
Family ID |
References |
| 1845 |
000-000-0000 | |
1-Neutral |
Polymorphism |
|
0 |
|
| c.512G>A |
3 |
|
p.Arg171Gln |
Ju,Sm,NMH,HD,NM |
1-Neutral |
1 - Neutral |
NEUTRAL |
TENGEN |
1/05/18 |
2  |
| UMD_id |
Sample ID |
Gender |
Biological significance |
Variation class |
Family ID |
References |
| 1846 |
| |
1-Neutral |
NEUTRAL |
|
0 |
| 1504 |
02-MI18-N01D-946 | Female |
1-Neutral |
NEUTRAL |
|
0 |
|
| c.591C>T |
3 |
|
p.Thr197Thr |
Ju,Sm,NMH,HD,NM |
1-Neutral |
1 - Neutral |
NEUTRAL |
TENGEN |
9/04/21 |
1  |
| UMD_id |
Sample ID |
Gender |
Biological significance |
Variation class |
Family ID |
References |
| 1938 |
04-ME03-S25-976 | Female |
1-Neutral |
NEUTRAL |
|
0 |
|
| c.IVS4-49C>T (c.784-49C>T) |
5 |
|
|
|
1-Neutral |
1 - Neutral |
NEUTRAL |
TENGEN |
1/05/18 |
1  |
| UMD_id |
Sample ID |
Gender |
Biological significance |
Variation class |
Family ID |
References |
| 1903 |
02-MA18-J01X-958 | |
1-Neutral |
NEUTRAL |
|
0 |
|
| c.1409C>T |
10 |
|
p.Pro470Leu |
Pem,NM,CH |
1-Neutral |
1 - Neutral |
NEUTRAL |
TENGEN |
9/06/22 |
1  |
| UMD_id |
Sample ID |
Gender |
Biological significance |
Variation class |
Family ID |
References |
| 1975 |
04-VE18-I19-984 | Male |
1-Neutral |
NEUTRAL |
|
0 |
|
| c.1621A>G |
10 |
|
p.Thr541Ala |
Sm3,CH |
1-Neutral |
1 - Neutral |
Polymorphism |
TENGEN |
1/05/18 |
1  |
| UMD_id |
Sample ID |
Gender |
Biological significance |
Variation class |
Family ID |
References |
| 1700 |
0-000-000-000 | |
1-Neutral |
Polymorphism |
|
30 |
|