| ID |
1 |
| Mutation Consequence |
coding_sequence_variant;5_prime_UTR_variant |
| Transcription ID |
ENST00000305107 |
| Start |
69495840:69495862(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.-1_22delGATGTCTATGAAATGGACTTCAG |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000305107 |
| Start |
69493753:69493753(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.810C>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000305107 |
| Start |
69480742:69480742(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1479G>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000305107 |
| Start |
69495495:69495498(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.364_367delATAC |
| AA Mutation |
p.Ile122LeufsTer8(p.I122Lfs*8) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000305107 |
| Start |
69495297:69495300(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.562_565delCTGT |
| AA Mutation |
p.Leu188SerfsTer13(p.L188Sfs*13) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |