| Mutation ID |
12 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000375147 |
| Start |
97668950:97668951(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2121_2122insGAAAATACCATTT |
| AA Mutation |
p.Asn708GlufsTer5(p.N708Efs*5) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000375147 |
| Start |
97654946:97654946(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1235+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> NCBP1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375147 |
| Start |
97645725:97645725(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.604T>A |
| AA Mutation |
p.Tyr202Asn(p.Y202N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375147 |
| Start |
97648027:97648027(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.701C>T |
| AA Mutation |
p.Ala234Val(p.A234V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375147 |
| Start |
97658674:97658674(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1408C>T |
| AA Mutation |
p.Pro470Ser(p.P470S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375147 |
| Start |
97668910:97668910(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2081G>A |
| AA Mutation |
p.Arg694Gln(p.R694Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375147 |
| Start |
97661016:97661016(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1548A>C |
| AA Mutation |
p.Glu516Asp(p.E516D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000375147 |
| Start |
97668875:97668875(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2046C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000375147 |
| Start |
97645628:97645628(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.507T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000375147 |
| Start |
97651317:97651317(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1003C>T |
| AA Mutation |
p.Gln335Ter(p.Q335*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|