| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000303088 |
| Start |
19199196:19199196(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.674C>T |
| AA Mutation |
p.Thr225Ile(p.T225I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000303088 |
| Start |
19197599:19197599(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.416C>T |
| AA Mutation |
p.Thr139Ile(p.T139I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000303088 |
| Start |
19198152:19198153(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.484_485insAGC |
| AA Mutation |
p.Ser162delinsTer(p.S162delins*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |