| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000372809 |
| Start |
39965939:39965939(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.678C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000372809 |
| Start |
39968688:39968689(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1512_1513delGT |
| AA Mutation |
p.Met504IlefsTer4(p.M504Ifs*4) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000372809 |
| Start |
39967658:39967658(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1081C>T |
| AA Mutation |
p.Gln361Ter(p.Q361*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |