| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000231004 |
| Start |
122074028:122074028(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1020T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000231004 |
| Start |
122075482:122075483(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.799dupC |
| AA Mutation |
p.Gln267ProfsTer34(p.Q267Pfs*34) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000231004 |
| Start |
122070052:122070052(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1247+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |