| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000327331 |
| Start |
37703340:37703340(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.577G>C |
| AA Mutation |
p.Asp193His(p.D193H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000327331 |
| Start |
37706984:37706984(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs765795028
|
| CDS Mutation |
c.718C>T |
| AA Mutation |
p.Arg240Ter(p.R240*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000327331 |
| Start |
37705519:37705521(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.665_667delCTG |
| AA Mutation |
p.Ala222del(p.A222del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |