| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369002 |
| Start |
107913414:107913414(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.466G>A |
| AA Mutation |
p.Glu156Lys(p.E156K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369002 |
| Start |
107883143:107883143(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1678G>A |
| AA Mutation |
p.Ala560Thr(p.A560T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000369002 |
| Start |
107904699:107904700(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.983dupA |
| AA Mutation |
p.Cys329ValfsTer10(p.C329Vfs*10) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |