| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000274376 |
| Start |
87376494:87376494(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2113T>C |
| AA Mutation |
p.Ser705Pro(p.S705P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000274376 |
| Start |
87374316:87374317(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1931_1932delTT |
| AA Mutation |
p.Phe644Ter(p.F644*) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000274376 |
| Start |
87376996:87376996(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2300C>A |
| AA Mutation |
p.Ser767Ter(p.S767*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |