| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374279 |
| Start |
111926396:111926396(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs763141861
|
| CDS Mutation |
c.458C>T |
| AA Mutation |
p.Thr153Met(p.T153M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374279 |
| Start |
111929666:111929666(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs62570269
|
| CDS Mutation |
c.725C>T |
| AA Mutation |
p.Ala242Val(p.A242V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000374279 |
| Start |
111932900:111932900(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1094delT |
| AA Mutation |
p.Leu365CysfsTer9(p.L365Cfs*9) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |