| Mutation ID |
39 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000297848 |
| Start |
120250658:120250693(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2644_2679delAACACCATCCTTATCACAAACCTCCTCAGCGGAATG |
| AA Mutation |
p.Asn882_Met893del(p.N882_M893del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
| Mutation ID |
40 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000297848 |
| Start |
120289727:120289728(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4198_4199insGTAAGA |
| AA Mutation |
p.Lys1399_Met1400insSerLys(p.K1399_M1400insSK) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> COL14A1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000297848 |
| Start |
120196941:120196941(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs750355331
|
| CDS Mutation |
c.587G>A |
| AA Mutation |
p.Arg196Gln(p.R196Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000297848 |
| Start |
120199536:120199536(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.847C>T |
| AA Mutation |
p.Arg283Cys(p.R283C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000297848 |
| Start |
120203792:120203792(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs367633536
|
| CDS Mutation |
c.961G>A |
| AA Mutation |
p.Asp321Asn(p.D321N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000297848 |
| Start |
120278142:120278142(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3245G>T |
| AA Mutation |
p.Arg1082Ile(p.R1082I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000297848 |
| Start |
120283689:120283689(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs774792562
|
| CDS Mutation |
c.3878G>A |
| AA Mutation |
p.Arg1293Gln(p.R1293Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000297848 |
| Start |
120315563:120315563(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4582G>T |
| AA Mutation |
p.Asp1528Tyr(p.D1528Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000297848 |
| Start |
120345485:120345485(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4999G>T |
| AA Mutation |
p.Ala1667Ser(p.A1667S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000297848 |
| Start |
120216450:120216450(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1697G>A |
| AA Mutation |
p.Arg566Gln(p.R566Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000297848 |
| Start |
120278529:120278529(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3432A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000297848 |
| Start |
120310038:120310038(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4431C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000297848 |
| Start |
120203746:120203746(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.915C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000297848 |
| Start |
120270078:120270078(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3117A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000297848 |
| Start |
120262962:120262962(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2964T>A |
| AA Mutation |
p.Tyr988Ter(p.Y988*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000297848 |
| Start |
120203861:120203861(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1030G>T |
| AA Mutation |
p.Glu344Ter(p.E344*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000297848 |
| Start |
120147875:120147875(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.33G>A |
| AA Mutation |
p.Trp11Ter(p.W11*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|