| ID |
6 |
| Mutation Consequence |
stop_gained;splice_region_variant |
| Transcription ID |
ENST00000274498 |
| Start |
143134105:143134105(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1837C>T |
| AA Mutation |
p.Gln613Ter(p.Q613*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000274498 |
| Start |
143057703:143057704(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1499dupA |
| AA Mutation |
p.Asn500LysfsTer17(p.N500Kfs*17) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000274498 |
| Start |
142879398:142879399(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.340_343dupACTC |
| AA Mutation |
p.Pro115HisfsTer22(p.P115Hfs*22) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |