| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000305231 |
| Start |
69096831:69096831(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.311C>A |
| AA Mutation |
p.Thr104Lys(p.T104K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000305231 |
| Start |
69097075:69097075(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.555A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000305231 |
| Start |
69096802:69096803(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.282_283delTA |
| AA Mutation |
p.Lys95GlufsTer26(p.K95Efs*26) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |