| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000319170 |
| Start |
203439823:203439823(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3367A>C |
| AA Mutation |
p.Thr1123Pro(p.T1123P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000319170 |
| Start |
203440069:203440069(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3121C>T |
| AA Mutation |
p.Leu1041Phe(p.L1041F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000319170 |
| Start |
203489939:203489939(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.377A>G |
| AA Mutation |
p.His126Arg(p.H126R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |