| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000442250 |
| Start |
172474223:172474223(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1061C>T |
| AA Mutation |
p.Ser354Leu(p.S354L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000442250 |
| Start |
172474189:172474189(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1027G>C |
| AA Mutation |
p.Glu343Gln(p.E343Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000442250 |
| Start |
172471004:172471005(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.681dupT |
| AA Mutation |
p.Asp228Ter(p.D228*) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |