| Mutation ID |
35 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000282478 |
| Start |
87616370:87616371(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3716_3717insTAGCAGCGATAGCAGTGA |
| AA Mutation |
p.Asp1242_Ser1247dup(p.D1242_S1247dup) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
| Mutation ID |
36 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000282478 |
| Start |
87616028:87616029(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3381_3389dupTGACAGCAG |
| AA Mutation |
p.Asp1137_Ser1139dup(p.D1137_S1139dup) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> DSPP
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000282478 |
| Start |
87612666:87612666(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.480G>T |
| AA Mutation |
p.Lys160Asn(p.K160N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000282478 |
| Start |
87616231:87616231(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3569G>T |
| AA Mutation |
p.Ser1190Ile(p.S1190I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000282478 |
| Start |
87613217:87613217(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs767387863
|
| CDS Mutation |
c.1031C>A |
| AA Mutation |
p.Thr344Asn(p.T344N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000282478 |
| Start |
87612438:87612438(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.252G>T |
| AA Mutation |
p.Lys84Asn(p.K84N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000282478 |
| Start |
87616291:87616291(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3629G>T |
| AA Mutation |
p.Ser1210Ile(p.S1210I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000282478 |
| Start |
87612172:87612172(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.119C>G |
| AA Mutation |
p.Ser40Ter(p.S40*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|