| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361937 |
| Start |
41085545:41085545(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.697G>A |
| AA Mutation |
p.Glu233Lys(p.E233K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361937 |
| Start |
41021011:41021011(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3163C>G |
| AA Mutation |
p.Pro1055Ala(p.P1055A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000361937 |
| Start |
40987927:40987927(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3618delC |
| AA Mutation |
p.Met1207TrpfsTer7(p.M1207Wfs*7) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |