| ID |
8 |
| Mutation Consequence |
coding_sequence_variant;5_prime_UTR_variant |
| Transcription ID |
ENST00000407977 |
| Start |
58415550:58415581(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.-4_28delTAGCATGAGTGGTGGCCACCAGCTGCAGCTGG |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000407977 |
| Start |
58363320:58363320(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.537C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
10 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000407977 |
| Start |
58415543:58415547(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.31_35delGCCCT |
| AA Mutation |
p.Ala11LeufsTer27(p.A11Lfs*27) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
11 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000407977 |
| Start |
58362619:58362619(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.612delA |
| AA Mutation |
p.Val205TrpfsTer7(p.V205Wfs*7) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
12 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000407977 |
| Start |
58415395:58415396(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.182_183delTG |
| AA Mutation |
p.Leu61GlnfsTer13(p.L61Qfs*13) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
13 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000407977 |
| Start |
58415514:58415514(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.64C>T |
| AA Mutation |
p.Gln22Ter(p.Q22*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
14 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000407977 |
| Start |
58363543:58363543(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.433C>T |
| AA Mutation |
p.Arg145Ter(p.R145*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
15 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000407977 |
| Start |
58360241:58360242(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.859dupG |
| AA Mutation |
p.Val287GlyfsTer7(p.V287Gfs*7) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
16 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000407977 |
| Start |
58370909:58370909(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.375+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |