| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000606117 |
| Start |
13595537:13595537(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.536C>A |
| AA Mutation |
p.Pro179Gln(p.P179Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000606117 |
| Start |
13600896:13600896(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs35937472
|
| CDS Mutation |
c.804C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000606117 |
| Start |
13588350:13588351(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.141dupT |
| AA Mutation |
p.Ala48CysfsTer15(p.A48Cfs*15) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |