| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000245323 |
| Start |
106493079:106493079(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.963G>A |
| AA Mutation |
p.Met321Ile(p.M321I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000245323 |
| Start |
106512776:106512776(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.159G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000245323 |
| Start |
106534918:106534918(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.47delT |
| AA Mutation |
p.Leu16Ter(p.L16*) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |