| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264709 |
| Start |
25246763:25246763(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1136G>A |
| AA Mutation |
p.Arg379His(p.R379H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264709 |
| Start |
25275005:25275005(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.575C>A |
| AA Mutation |
p.Ala192Glu(p.A192E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000264709 |
| Start |
25274995:25274995(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.585delC |
| AA Mutation |
p.Tyr196ThrfsTer29(p.Y196Tfs*29) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |