| ID |
31 |
| Mutation Consequence |
stop_gained;frameshift_variant |
| Transcription ID |
ENST00000233242 |
| Start |
21016548:21016549(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3204_3222dupTTTTGATGTTGACCTCGGA |
| AA Mutation |
p.Thr1075PhefsTer2(p.T1075Ffs*2) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
32 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000233242 |
| Start |
21028367:21028368(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1788dupT |
| AA Mutation |
p.Ile597TyrfsTer53(p.I597Yfs*53) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
33 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000233242 |
| Start |
21009121:21009122(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.7740_7746dupGGTAGAG |
| AA Mutation |
p.Gln2583GlyfsTer9(p.Q2583Gfs*9) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
34 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000233242 |
| Start |
21013328:21013329(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4047dupA |
| AA Mutation |
p.Val1350SerfsTer45(p.V1350Sfs*45) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
35 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000233242 |
| Start |
21011948:21011949(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4919dupC |
| AA Mutation |
p.His1641SerfsTer23(p.H1641Sfs*23) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
36 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000233242 |
| Start |
21006508:21006509(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.10359dupT |
| AA Mutation |
p.Val3454CysfsTer8(p.V3454Cfs*8) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
37 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000233242 |
| Start |
21008329:21008330(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.8538dupT |
| AA Mutation |
p.Gly2847TrpfsTer5(p.G2847Wfs*5) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
38 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000233242 |
| Start |
21023018:21023019(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2628dupA |
| AA Mutation |
p.Pro877ThrfsTer20(p.P877Tfs*20) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |