| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000593993 |
| Start |
18061144:18061144(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1769T>C |
| AA Mutation |
p.Ile590Thr(p.I590T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000593993 |
| Start |
18075804:18075804(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.645G>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000593993 |
| Start |
18077554:18077554(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.511C>T |
| AA Mutation |
p.Gln171Ter(p.Q171*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |