| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367288 |
| Start |
201899766:201899766(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1247C>T |
| AA Mutation |
p.Thr416Met(p.T416M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000367288 |
| Start |
201900275:201900275(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.738A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000367288 |
| Start |
201900679:201900680(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.333dupA |
| AA Mutation |
p.Ala112SerfsTer25(p.A112Sfs*25) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |