| ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375799 |
| Start |
15727571:15727571(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1499C>T |
| AA Mutation |
p.Ala500Val(p.A500V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375799 |
| Start |
15727360:15727360(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1288G>A |
| AA Mutation |
p.Ala430Thr(p.A430T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000375799 |
| Start |
15684573:15684575(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.16_18delGTG |
| AA Mutation |
p.Val6del(p.V6del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |