| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000337907 |
| Start |
8356214:8356214(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4372C>A |
| AA Mutation |
p.Pro1458Thr(p.P1458T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000337907 |
| Start |
8495158:8495158(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1009A>T |
| AA Mutation |
p.Met337Leu(p.M337L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000337907 |
| Start |
8361815:8361816(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1959_1963dupGGTGG |
| AA Mutation |
p.Ala655GlyfsTer177(p.A655Gfs*177) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |