| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367851 |
| Start |
167856243:167856243(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2093G>A |
| AA Mutation |
p.Gly698Asp(p.G698D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367851 |
| Start |
167860890:167860890(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1790A>G |
| AA Mutation |
p.Asn597Ser(p.N597S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000367851 |
| Start |
167833027:167833029(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3551_3553delTTC |
| AA Mutation |
p.Phe1184_His1185delinsTyr(p.F1184_H1185delinsY) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |