| Mutation ID |
16 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000264033 |
| Start |
119274894:119274894(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.815delT |
| AA Mutation |
p.Leu272Ter(p.L272*) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000264033 |
| Start |
119285359:119285360(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1739dupC |
| AA Mutation |
p.Val581CysfsTer4(p.V581Cfs*4) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CBL
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264033 |
| Start |
119273894:119273894(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.617G>A |
| AA Mutation |
p.Arg206Gln(p.R206Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264033 |
| Start |
119274910:119274910(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs755244263
|
| CDS Mutation |
c.826G>A |
| AA Mutation |
p.Glu276Lys(p.E276K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264033 |
| Start |
119232681:119232681(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.429G>T |
| AA Mutation |
p.Glu143Asp(p.E143D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000264033 |
| Start |
119271737:119271737(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs199739868
|
| CDS Mutation |
c.446G>A |
| AA Mutation |
p.Arg149Gln(p.R149Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264033 |
| Start |
119298469:119298469(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs150811339
|
| CDS Mutation |
c.2363G>A |
| AA Mutation |
p.Arg788Gln(p.R788Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264033 |
| Start |
119206607:119206607(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.190G>A |
| AA Mutation |
p.Asp64Asn(p.D64N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264033 |
| Start |
119299741:119299741(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2681A>G |
| AA Mutation |
p.Glu894Gly(p.E894G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000264033 |
| Start |
119273893:119273893(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.616C>T |
| AA Mutation |
p.Arg206Ter(p.R206*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|