| ID |
13 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000274376 |
| Start |
87376972:87376990(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2277_2295delTTTTCTTCACGAAAAGCTT |
| AA Mutation |
p.Ile759MetfsTer9(p.I759Mfs*9) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
14 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000274376 |
| Start |
87379754:87379754(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2513delA |
| AA Mutation |
p.Asn838MetfsTer4(p.N838Mfs*4) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
15 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000274376 |
| Start |
87376972:87376972(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2280delT |
| AA Mutation |
p.Leu761PhefsTer13(p.L761Ffs*13) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
16 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000274376 |
| Start |
87362647:87362650(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1432_1435delAAAG |
| AA Mutation |
p.Lys478ValfsTer4(p.K478Vfs*4) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
17 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000274376 |
| Start |
87363365:87363365(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1475delA |
| AA Mutation |
p.Asn492IlefsTer6(p.N492Ifs*6) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
18 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000274376 |
| Start |
87332616:87332620(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.806_810delTTTAC |
| AA Mutation |
p.Leu269ProfsTer11(p.L269Pfs*11) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
19 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000274376 |
| Start |
87378527:87378527(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2476C>T |
| AA Mutation |
p.Gln826Ter(p.Q826*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
20 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000274376 |
| Start |
87376512:87376512(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2131C>T |
| AA Mutation |
p.Arg711Ter(p.R711*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
21 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000274376 |
| Start |
87333291:87333291(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs137853218
|
| CDS Mutation |
c.853C>T |
| AA Mutation |
p.Arg285Ter(p.R285*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
22 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000274376 |
| Start |
87363428:87363428(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1534C>T |
| AA Mutation |
p.Arg512Ter(p.R512*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
23 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000274376 |
| Start |
87363443:87363443(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1549A>T |
| AA Mutation |
p.Lys517Ter(p.K517*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
24 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000274376 |
| Start |
87268868:87268869(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.422dupC |
| AA Mutation |
p.Tyr142LeufsTer16(p.Y142Lfs*16) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
25 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000274376 |
| Start |
87386885:87386886(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2912dupT |
| AA Mutation |
p.Leu971PhefsTer3(p.L971Ffs*3) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |