| ID |
20 |
| Mutation Consequence |
stop_gained;frameshift_variant |
| Transcription ID |
ENST00000262320 |
| Start |
346848:346849(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.117_177dupCGCCAGCTACAGTTTCTGCTCCGGGAAAGGTGTTGGCATTAAAGGTGAGACTTCGACGGCC |
| AA Mutation |
p.Thr60ArgfsTer14(p.T60Rfs*14) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
21 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000262320 |
| Start |
297861:297861(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1645C>T |
| AA Mutation |
p.Gln549Ter(p.Q549*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
22 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000262320 |
| Start |
297849:297849(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1657G>T |
| AA Mutation |
p.Glu553Ter(p.E553*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
23 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000262320 |
| Start |
304369:304369(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1189G>T |
| AA Mutation |
p.Glu397Ter(p.E397*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
24 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000262320 |
| Start |
310038:310038(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1051C>T |
| AA Mutation |
p.Gln351Ter(p.Q351*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
25 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000262320 |
| Start |
298175:298175(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1331G>A |
| AA Mutation |
p.Trp444Ter(p.W444*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
26 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000262320 |
| Start |
297107:297107(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1904G>A |
| AA Mutation |
p.Trp635Ter(p.W635*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
27 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000262320 |
| Start |
346750:346751(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.275_276insAG |
| AA Mutation |
p.Leu93GlyfsTer8(p.L93Gfs*8) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
28 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000262320 |
| Start |
298096:298097(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1409dupT |
| AA Mutation |
p.Leu471ProfsTer120(p.L471Pfs*120) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
29 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000262320 |
| Start |
297071:297072(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1939dupC |
| AA Mutation |
p.Arg647ProfsTer17(p.R647Pfs*17) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
30 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000262320 |
| Start |
314646:314647(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.915dupT |
| AA Mutation |
p.Val306CysfsTer45(p.V306Cfs*45) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
31 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000262320 |
| Start |
346147:346147(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.878+1G>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| ID |
32 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000262320 |
| Start |
310070:310070(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1020-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |