| ID |
9 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000371361 |
| Start |
94357172:94357172(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.508+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| ID |
10 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000371361 |
| Start |
94350111:94350111(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1128+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| ID |
11 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000371361 |
| Start |
94346460:94346461(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1353_1354insCAG |
| AA Mutation |
p.Lys451_Glu452insGln(p.K451_E452insQ) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |