| ID |
2 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000521381 |
| Start |
68295307:68295309(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1728_1730delGAG |
| AA Mutation |
p.Arg577del(p.R577del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000521381 |
| Start |
68226771:68226772(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.99_101dupTAA |
| AA Mutation |
p.Asn33dup(p.N33dup) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000521381 |
| Start |
68293778:68293779(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1372_1377dupGAAAAA |
| AA Mutation |
p.Glu458_Lys459dup(p.E458_K459dup) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |