| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000567109 |
| Start |
83783272:83783272(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1934G>T |
| AA Mutation |
p.Ser645Ile(p.S645I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000567109 |
| Start |
83602458:83602458(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.965T>C |
| AA Mutation |
p.Leu322Pro(p.L322P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000567109 |
| Start |
83670819:83670819(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1133delG |
| AA Mutation |
p.Gly378GlufsTer6(p.G378Efs*6) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |