| Mutation ID |
110 |
| Mutation Consequence |
splice_acceptor_variant;NMD_transcript_variant |
| Transcription ID |
ENST00000241312 |
| Start |
33724705:33724705(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2576-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
111 |
| Mutation Consequence |
splice_donor_variant;NMD_transcript_variant |
| Transcription ID |
ENST00000241312 |
| Start |
33657945:33657945(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4327+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CSMD2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant;NMD_transcript_variant |
| Transcription ID |
ENST00000241312 |
| Start |
33537035:33537035(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.9434C>A |
| AA Mutation |
p.Ser3145Tyr(p.S3145Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant;NMD_transcript_variant |
| Transcription ID |
ENST00000241312 |
| Start |
33550246:33550246(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.8416C>A |
| AA Mutation |
p.Leu2806Met(p.L2806M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant;NMD_transcript_variant |
| Transcription ID |
ENST00000241312 |
| Start |
33825745:33825745(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.943G>A |
| AA Mutation |
p.Gly315Ser(p.G315S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant;NMD_transcript_variant |
| Transcription ID |
ENST00000241312 |
| Start |
33714619:33714619(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs750515208
|
| CDS Mutation |
c.3254G>A |
| AA Mutation |
p.Arg1085His(p.R1085H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant;NMD_transcript_variant |
| Transcription ID |
ENST00000241312 |
| Start |
33739320:33739320(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2068G>A |
| AA Mutation |
p.Glu690Lys(p.E690K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant;NMD_transcript_variant |
| Transcription ID |
ENST00000241312 |
| Start |
33657988:33657988(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs532612359
|
| CDS Mutation |
c.4285G>A |
| AA Mutation |
p.Glu1429Lys(p.E1429K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant;NMD_transcript_variant |
| Transcription ID |
ENST00000241312 |
| Start |
33577389:33577389(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.7489G>A |
| AA Mutation |
p.Ala2497Thr(p.A2497T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant;NMD_transcript_variant |
| Transcription ID |
ENST00000241312 |
| Start |
33743348:33743348(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1985A>G |
| AA Mutation |
p.His662Arg(p.H662R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant;NMD_transcript_variant |
| Transcription ID |
ENST00000241312 |
| Start |
33546133:33546133(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.8572C>T |
| AA Mutation |
p.Arg2858Cys(p.R2858C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
missense_variant;NMD_transcript_variant |
| Transcription ID |
ENST00000241312 |
| Start |
33698801:33698801(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3757C>A |
| AA Mutation |
p.Leu1253Met(p.L1253M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
missense_variant;NMD_transcript_variant |
| Transcription ID |
ENST00000241312 |
| Start |
33743561:33743561(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1772C>A |
| AA Mutation |
p.Ser591Tyr(p.S591Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
missense_variant;NMD_transcript_variant |
| Transcription ID |
ENST00000241312 |
| Start |
33792430:33792430(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1423C>A |
| AA Mutation |
p.Leu475Ile(p.L475I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
missense_variant;NMD_transcript_variant |
| Transcription ID |
ENST00000241312 |
| Start |
33541288:33541288(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.8867G>A |
| AA Mutation |
p.Gly2956Glu(p.G2956E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
synonymous_variant;NMD_transcript_variant |
| Transcription ID |
ENST00000241312 |
| Start |
33810854:33810854(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1215T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
synonymous_variant;NMD_transcript_variant |
| Transcription ID |
ENST00000241312 |
| Start |
33743446:33743446(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1887T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
synonymous_variant;NMD_transcript_variant |
| Transcription ID |
ENST00000241312 |
| Start |
33533108:33533108(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs372068474
|
| CDS Mutation |
c.9681C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
synonymous_variant;NMD_transcript_variant |
| Transcription ID |
ENST00000241312 |
| Start |
33716323:33716323(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3060C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
frameshift_variant;NMD_transcript_variant |
| Transcription ID |
ENST00000241312 |
| Start |
33583645:33583646(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.7242dupT |
| AA Mutation |
p.Asp2415Ter(p.D2415*) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
|