| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000329397 |
| Start |
141425103:141425103(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.161A>T |
| AA Mutation |
p.Asp54Val(p.D54V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000329397 |
| Start |
141430934:141430934(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.412C>A |
| AA Mutation |
p.Arg138Ser(p.R138S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
start_lost |
| Transcription ID |
ENST00000329397 |
| Start |
141422242:141422242(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2T>C |
| AA Mutation |
p.Met1?(p.M1?) |
| Mutation Classification |
Translation_Start_Site |
| Feature Type |
Transcript |