| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000395145 |
| Start |
73769887:73769887(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.163G>C |
| AA Mutation |
p.Val55Leu(p.V55L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000395145 |
| Start |
73769450:73769450(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.600G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000395145 |
| Start |
73769972:73769973(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.77dupT |
| AA Mutation |
p.Leu26PhefsTer285(p.L26Ffs*285) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |