| ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000224949 |
| Start |
3138284:3138284(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2971G>T |
| AA Mutation |
p.Glu991Ter(p.E991*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000224949 |
| Start |
3158073:3158074(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1216dupA |
| AA Mutation |
p.Ser406LysfsTer8(p.S406Kfs*8) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000224949 |
| Start |
3155590:3155590(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1621+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |