| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000518547 |
| Start |
124553677:124553677(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1583A>G |
| AA Mutation |
p.Tyr528Cys(p.Y528C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000518547 |
| Start |
124553083:124553083(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2177delC |
| AA Mutation |
p.Pro726HisfsTer7(p.P726Hfs*7) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000518547 |
| Start |
124553586:124553587(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1673_1674insATA |
| AA Mutation |
p.Ser557_Tyr558insTer(p.S557_Y558ins*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |