| Mutation ID |
54 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000375759 |
| Start |
15876679:15876679(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.881+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
55 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000375759 |
| Start |
15933951:15933952(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.7719_7724dupCCCGCC |
| AA Mutation |
p.Pro2574_Pro2575dup(p.P2574_P2575dup) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SPEN
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375759 |
| Start |
15928150:15928150(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs149954308
|
| CDS Mutation |
c.1910G>A |
| AA Mutation |
p.Arg637Gln(p.R637Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375759 |
| Start |
15932500:15932500(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.6260T>C |
| AA Mutation |
p.Val2087Ala(p.V2087A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375759 |
| Start |
15930255:15930255(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4015C>A |
| AA Mutation |
p.Arg1339Ser(p.R1339S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375759 |
| Start |
15931429:15931429(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5189A>C |
| AA Mutation |
p.Tyr1730Ser(p.Y1730S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375759 |
| Start |
15932439:15932439(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.6199C>A |
| AA Mutation |
p.Pro2067Thr(p.P2067T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375759 |
| Start |
15932578:15932578(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.6338A>G |
| AA Mutation |
p.Glu2113Gly(p.E2113G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375759 |
| Start |
15938790:15938790(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.10777G>A |
| AA Mutation |
p.Glu3593Lys(p.E3593K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000375759 |
| Start |
15930317:15930317(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4077A>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000375759 |
| Start |
15929471:15929471(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3231C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000375759 |
| Start |
15931706:15931706(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5466G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000375759 |
| Start |
15929566:15929566(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3326C>A |
| AA Mutation |
p.Ser1109Ter(p.S1109*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000375759 |
| Start |
15929367:15929367(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3127G>T |
| AA Mutation |
p.Glu1043Ter(p.E1043*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|