| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000547270 |
| Start |
141972807:141972807(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.883G>A |
| AA Mutation |
p.Ala295Thr(p.A295T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000547270 |
| Start |
141973201:141973201(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.489delT |
| AA Mutation |
p.Phe163LeufsTer14(p.F163Lfs*14) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000547270 |
| Start |
141973200:141973201(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.489dupT |
| AA Mutation |
p.Ser164Ter(p.S164*) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |