| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000397821 |
| Start |
19542167:19542167(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs199899970
|
| CDS Mutation |
c.1650G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000397821 |
| Start |
19542097:19542097(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1720delC |
| AA Mutation |
p.Leu574CysfsTer39(p.L574Cfs*39) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SH3KBP1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000397821 |
| Start |
19569173:19569173(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1314G>T |
| AA Mutation |
p.Lys438Asn(p.K438N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000397821 |
| Start |
19836133:19836133(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.154T>C |
| AA Mutation |
p.Phe52Leu(p.F52L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000397821 |
| Start |
19550051:19550051(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1417A>G |
| AA Mutation |
p.Thr473Ala(p.T473A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000397821 |
| Start |
19706899:19706899(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.372C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|