| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000395198 |
| Start |
67988790:67988790(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs772847954
|
| CDS Mutation |
c.1679T>C |
| AA Mutation |
p.Val560Ala(p.V560A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000395198 |
| Start |
68038098:68038098(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.458C>G |
| AA Mutation |
p.Ser153Cys(p.S153C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000395198 |
| Start |
67991148:67991149(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1322dupT |
| AA Mutation |
p.Leu441PhefsTer4(p.L441Ffs*4) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |