| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373271 |
| Start |
41163800:41163800(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.977T>C |
| AA Mutation |
p.Leu326Pro(p.L326P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373271 |
| Start |
41162466:41162466(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.527A>T |
| AA Mutation |
p.Asp176Val(p.D176V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000373271 |
| Start |
41163810:41163811(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.988dupT |
| AA Mutation |
p.Trp330LeufsTer18(p.W330Lfs*18) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |