| Mutation ID |
24 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000266682 |
| Start |
84876608:84876608(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.757-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
25 |
| Mutation Consequence |
protein_altering_variant |
| Transcription ID |
ENST00000266682 |
| Start |
84883871:84883872(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.743_744insCTGTTTTTATTT |
| AA Mutation |
p.Gln248delinsHisCysPheTyrLeu(p.Q248delinsHCFYL) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SLC6A15
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000266682 |
| Start |
84863456:84863456(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs376347410
|
| CDS Mutation |
c.1801G>A |
| AA Mutation |
p.Ala601Thr(p.A601T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000266682 |
| Start |
84861808:84861808(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2017G>T |
| AA Mutation |
p.Asp673Tyr(p.D673Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000266682 |
| Start |
84872701:84872701(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1203A>C |
| AA Mutation |
p.Glu401Asp(p.E401D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000266682 |
| Start |
84863597:84863597(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs758867504
|
| CDS Mutation |
c.1660A>G |
| AA Mutation |
p.Met554Val(p.M554V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000266682 |
| Start |
84861676:84861676(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2149T>G |
| AA Mutation |
p.Leu717Val(p.L717V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000266682 |
| Start |
84873275:84873275(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.921C>A |
| AA Mutation |
p.Phe307Leu(p.F307L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000266682 |
| Start |
84885488:84885488(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.521A>C |
| AA Mutation |
p.Gln174Pro(p.Q174P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000266682 |
| Start |
84861791:84861791(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs140619291
|
| CDS Mutation |
c.2034C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000266682 |
| Start |
84892006:84892006(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.115C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000266682 |
| Start |
84891950:84891950(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.171C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000266682 |
| Start |
84861739:84861739(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs146589974
|
| CDS Mutation |
c.2086C>T |
| AA Mutation |
p.Arg696Ter(p.R696*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|