| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000253354 |
| Start |
33303052:33303052(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs373099188
|
| CDS Mutation |
c.1118G>A |
| AA Mutation |
p.Arg373His(p.R373H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000253354 |
| Start |
33288847:33288847(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.222C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000253354 |
| Start |
33302976:33302976(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1047delT |
| AA Mutation |
p.Phe349LeufsTer2(p.F349Lfs*2) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |