| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000269394 |
| Start |
82832222:82832255(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.200_233delAATCTAACTCACTAGACCCCAAGCAAACCAACCA |
| AA Mutation |
p.Lys67SerfsTer288(p.K67Sfs*288) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000269394 |
| Start |
82831563:82831563(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.892delT |
| AA Mutation |
p.Ser298LeufsTer68(p.S298Lfs*68) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000269394 |
| Start |
82832377:82832377(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.78delA |
| AA Mutation |
p.Lys26AsnfsTer19(p.K26Nfs*19) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000269394 |
| Start |
82831767:82831767(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.688delG |
| AA Mutation |
p.Ala230ProfsTer136(p.A230Pfs*136) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000269394 |
| Start |
82832246:82832246(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.209C>A |
| AA Mutation |
p.Ser70Ter(p.S70*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
10 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000269394 |
| Start |
82831862:82831862(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.593C>A |
| AA Mutation |
p.Ser198Ter(p.S198*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
11 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000269394 |
| Start |
82832291:82832291(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.164T>G |
| AA Mutation |
p.Leu55Ter(p.L55*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
12 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000269394 |
| Start |
82832443:82832444(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.11_12insTT |
| AA Mutation |
p.Lys5SerfsTer41(p.K5Sfs*41) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |