| ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000397062 |
| Start |
177234238:177234238(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.79G>T |
| AA Mutation |
p.Asp27Tyr(p.D27Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000397062 |
| Start |
177234082:177234082(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.235G>T |
| AA Mutation |
p.Glu79Ter(p.E79*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
10 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000397062 |
| Start |
177234233:177234235(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.82_84delATA |
| AA Mutation |
p.Ile28del(p.I28del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |