| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369406 |
| Start |
119750848:119750848(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1481G>T |
| AA Mutation |
p.Arg494Leu(p.R494L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000369406 |
| Start |
119755438:119755438(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1176G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000369406 |
| Start |
119757275:119757276(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1013dupT |
| AA Mutation |
p.Gly339ArgfsTer16(p.G339Rfs*16) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |