| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000337523 |
| Start |
31971454:31971454(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.222delC |
| AA Mutation |
p.Thr75LeufsTer54(p.T75Lfs*54) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000337523 |
| Start |
31971000:31971032(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.472_504delGGAACACTATACCTGAGTGAAGTGGAGACACCG |
| AA Mutation |
p.Gly158_Pro168del(p.G158_P168del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000337523 |
| Start |
31970779:31970802(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.616_639delCCCTCTGGGGAGGTTAACACCAAC |
| AA Mutation |
p.Pro206_Asn213del(p.P206_N213del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |