| Mutation ID |
55 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000388887 |
| Start |
103735490:103735490(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5461-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
56 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000388887 |
| Start |
103703264:103703265(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3831_3832insTTTTATGAC |
| AA Mutation |
p.Thr1277_Thr1278insPheTyrAsp(p.T1277_T1278insFYD) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> STAB2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000388887 |
| Start |
103638112:103638112(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs374968745
|
| CDS Mutation |
c.806G>A |
| AA Mutation |
p.Arg269His(p.R269H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000388887 |
| Start |
103662925:103662925(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1949G>T |
| AA Mutation |
p.Gly650Val(p.G650V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000388887 |
| Start |
103689954:103689954(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3154T>A |
| AA Mutation |
p.Ser1052Thr(p.S1052T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000388887 |
| Start |
103655297:103655297(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1598C>A |
| AA Mutation |
p.Ser533Tyr(p.S533Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000388887 |
| Start |
103669600:103669600(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2232C>A |
| AA Mutation |
p.Phe744Leu(p.F744L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000388887 |
| Start |
103638151:103638151(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.845A>G |
| AA Mutation |
p.Gln282Arg(p.Q282R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000388887 |
| Start |
103704610:103704610(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3896C>A |
| AA Mutation |
p.Ser1299Tyr(p.S1299Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000388887 |
| Start |
103749030:103749030(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs151012888
|
| CDS Mutation |
c.6312G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000388887 |
| Start |
103695787:103695787(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3525T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000388887 |
| Start |
103655560:103655560(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs559457405
|
| CDS Mutation |
c.1713C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000388887 |
| Start |
103706878:103706878(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4083C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000388887 |
| Start |
103727275:103727275(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4860C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|