| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000397062 |
| Start |
177231249:177231249(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1354G>A |
| AA Mutation |
p.Ala452Thr(p.A452T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000397062 |
| Start |
177234023:177234023(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.294A>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000397062 |
| Start |
177231264:177231269(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1334_1339delAACATT |
| AA Mutation |
p.Lys445_Ser447delinsThr(p.K445_S447delinsT) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |