| Mutation ID |
11 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000528231 |
| Start |
85718821:85718821(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1584G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000528231 |
| Start |
85709344:85709345(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1986dupA |
| AA Mutation |
p.Gln663ThrfsTer35(p.Q663Tfs*35) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SYTL2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000528231 |
| Start |
85734405:85734405(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.921T>G |
| AA Mutation |
p.His307Gln(p.H307Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000528231 |
| Start |
85734053:85734053(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1273G>C |
| AA Mutation |
p.Glu425Gln(p.E425Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000528231 |
| Start |
85734419:85734419(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.907G>T |
| AA Mutation |
p.Gly303Cys(p.G303C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000528231 |
| Start |
85748384:85748384(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.141G>T |
| AA Mutation |
p.Lys47Asn(p.K47N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000528231 |
| Start |
85757641:85757641(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs753660701
|
| CDS Mutation |
c.85G>A |
| AA Mutation |
p.Glu29Lys(p.E29K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000528231 |
| Start |
85734061:85734061(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1265C>A |
| AA Mutation |
p.Ser422Tyr(p.S422Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000528231 |
| Start |
85734345:85734345(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.981G>T |
| AA Mutation |
p.Glu327Asp(p.E327D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000528231 |
| Start |
85727903:85727903(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1452T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000528231 |
| Start |
85698055:85698055(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2377G>T |
| AA Mutation |
p.Glu793Ter(p.E793*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000528231 |
| Start |
85734263:85734263(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1063G>T |
| AA Mutation |
p.Glu355Ter(p.E355*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|