| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000261038 |
| Start |
122826902:122826902(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.540C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000261038 |
| Start |
122872539:122872539(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1268delT |
| AA Mutation |
p.Leu423Ter(p.L423*) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000261038 |
| Start |
122833448:122833448(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.833+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |