| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000223095 |
| Start |
101133861:101133861(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.867G>A |
| AA Mutation |
p.Met289Ile(p.M289I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000223095 |
| Start |
101133874:101133874(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.880C>T |
| AA Mutation |
p.Arg294Cys(p.R294C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000223095 |
| Start |
101135786:101135787(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1077_1079dupCTC |
| AA Mutation |
p.Ser361dup(p.S361dup) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |