| ID |
7 |
| Mutation Consequence |
stop_gained;splice_region_variant |
| Transcription ID |
ENST00000222275 |
| Start |
35673234:35673234(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.288C>A |
| AA Mutation |
p.Tyr96Ter(p.Y96*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000222275 |
| Start |
35675929:35675929(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.558G>A |
| AA Mutation |
p.Trp186Ter(p.W186*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000222275 |
| Start |
35675964:35675965(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.598dupC |
| AA Mutation |
p.Leu200ProfsTer112(p.L200Pfs*112) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |