| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000515683 |
| Start |
99344882:99344882(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.547T>A |
| AA Mutation |
p.Ser183Thr(p.S183T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000515683 |
| Start |
99347781:99347781(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.84G>T |
| AA Mutation |
p.Glu28Asp(p.E28D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000515683 |
| Start |
99347076:99347079(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.186_189delTCCT |
| AA Mutation |
p.Pro63Ter(p.P63*) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |