| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000290429 |
| Start |
43137204:43137204(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.606C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000290429 |
| Start |
43133193:43133193(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1023delG |
| AA Mutation |
p.Phe342SerfsTer7(p.F342Sfs*7) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000290429 |
| Start |
43143066:43143067(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.280_282dupGCC |
| AA Mutation |
p.Ala94dup(p.A94dup) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |