| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000253925 |
| Start |
70343828:70343828(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1867G>A |
| AA Mutation |
p.Ala623Thr(p.A623T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000253925 |
| Start |
70326607:70326607(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.719A>C |
| AA Mutation |
p.Asp240Ala(p.D240A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000253925 |
| Start |
70372214:70372214(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2866-1G>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |