| ID |
21 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000343348 |
| Start |
116447069:116447069(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2637delC |
| AA Mutation |
p.Val881PhefsTer20(p.V881Ffs*20) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
22 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000343348 |
| Start |
116482520:116482521(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1017dupT |
| AA Mutation |
p.Thr340TyrfsTer11(p.T340Yfs*11) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
23 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000343348 |
| Start |
116504843:116504843(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.100+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |