Gene >> DIO2
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000438257 |
| Start |
80202898:80202898(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.613C>A |
| AA Mutation |
p.Pro205Thr(p.P205T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000438257 |
| Start |
80202871:80202871(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.640delC |
| AA Mutation |
p.Arg214AlafsTer?(p.R214Afs*?) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |