| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000284049 |
| Start |
98893527:98893527(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1880A>G |
| AA Mutation |
p.Tyr627Cys(p.Y627C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000284049 |
| Start |
98856712:98856712(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4801A>T |
| AA Mutation |
p.Arg1601Ter(p.R1601*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000284049 |
| Start |
98888128:98888129(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2455dupA |
| AA Mutation |
p.Ile819AsnfsTer33(p.I819Nfs*33) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |