| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000366955 |
| Start |
214644681:214644681(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5111T>C |
| AA Mutation |
p.Leu1704Pro(p.L1704P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000366955 |
| Start |
214640772:214640772(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2434A>C |
| AA Mutation |
p.Ser812Arg(p.S812R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000366955 |
| Start |
214648741:214648741(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.7897G>A |
| AA Mutation |
p.Ala2633Thr(p.A2633T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |