| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000307546 |
| Start |
113683135:113683135(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3567A>C |
| AA Mutation |
p.Lys1189Asn(p.K1189N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000307546 |
| Start |
113594562:113594562(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1018+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000307546 |
| Start |
113641995:113641997(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1445_1447delTCA |
| AA Mutation |
p.Val482_Asn483delinsAsp(p.V482_N483delinsD) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |