| Mutation ID |
85 |
| Mutation Consequence |
protein_altering_variant |
| Transcription ID |
ENST00000357337 |
| Start |
77097893:77097894(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.9146_9147insGAGGAGACT |
| AA Mutation |
p.Asn3049delinsLysArgArgLeu(p.N3049delinsKRRL) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
| Mutation ID |
86 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000357337 |
| Start |
77217953:77217954(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2829_2830insAATGTGAAGACC |
| AA Mutation |
p.Gly943_Cys944insAsnValLysThr(p.G943_C944insNVKT) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> MYCBP2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357337 |
| Start |
77206820:77206820(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs148009867
|
| CDS Mutation |
c.3308G>A |
| AA Mutation |
p.Arg1103Gln(p.R1103Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357337 |
| Start |
77174431:77174431(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5417A>T |
| AA Mutation |
p.Asp1806Val(p.D1806V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357337 |
| Start |
77045471:77045471(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.13830A>C |
| AA Mutation |
p.Glu4610Asp(p.E4610D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357337 |
| Start |
77077369:77077369(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs527303592
|
| CDS Mutation |
c.11389C>T |
| AA Mutation |
p.His3797Tyr(p.H3797Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357337 |
| Start |
77176532:77176532(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5323G>C |
| AA Mutation |
p.Ala1775Pro(p.A1775P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357337 |
| Start |
77083105:77083105(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs777629569
|
| CDS Mutation |
c.10849C>T |
| AA Mutation |
p.Arg3617Cys(p.R3617C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000357337 |
| Start |
77263931:77263931(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1315G>T |
| AA Mutation |
p.Asp439Tyr(p.D439Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000357337 |
| Start |
77217930:77217930(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2853G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000357337 |
| Start |
77097534:77097534(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.9506delA |
| AA Mutation |
p.Lys3169ArgfsTer26(p.K3169Rfs*26) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000357337 |
| Start |
77260503:77260503(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1828G>T |
| AA Mutation |
p.Gly610Ter(p.G610*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000357337 |
| Start |
77278757:77278757(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.634+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000357337 |
| Start |
77176556:77176557(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5293_5298dupTACACA |
| AA Mutation |
p.Tyr1765_Thr1766dup(p.Y1765_T1766dup) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
|