| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000369980 |
| Start |
154016516:154016516(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1157delG |
| AA Mutation |
p.Gly386AlafsTer28(p.G386Afs*28) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000369980 |
| Start |
154013409:154013409(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1564C>T |
| AA Mutation |
p.Gln522Ter(p.Q522*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000369980 |
| Start |
154016947:154016947(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1028+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |