| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000351593 |
| Start |
7967758:7967758(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.463G>C |
| AA Mutation |
p.Asp155His(p.D155H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000351593 |
| Start |
7963682:7963682(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.782G>T |
| AA Mutation |
p.Trp261Leu(p.W261L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000351593 |
| Start |
7963579:7963580(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.884_885delAT |
| AA Mutation |
p.Tyr295Ter(p.Y295*) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |