| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371130 |
| Start |
124420686:124420686(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4586A>C |
| AA Mutation |
p.Asn1529Thr(p.N1529T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371130 |
| Start |
124671727:124671727(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1124A>C |
| AA Mutation |
p.Tyr375Ser(p.Y375S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371130 |
| Start |
124405053:124405053(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5348C>T |
| AA Mutation |
p.Ser1783Leu(p.S1783L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |