| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000327532 |
| Start |
138103730:138103730(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs747572718
|
| CDS Mutation |
c.242C>T |
| AA Mutation |
p.Pro81Leu(p.P81L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000327532 |
| Start |
138103963:138103963(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.9C>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000327532 |
| Start |
138092456:138092457(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.796dupG |
| AA Mutation |
p.Glu266GlyfsTer4(p.E266Gfs*4) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |