| Mutation ID |
12 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000359930 |
| Start |
47757353:47757353(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.11delC |
| AA Mutation |
p.Pro4ArgfsTer28(p.P4Rfs*28) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000359930 |
| Start |
47663068:47663068(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2370+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SULF2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000359930 |
| Start |
47661793:47661793(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs533810544
|
| CDS Mutation |
c.2474G>A |
| AA Mutation |
p.Arg825Gln(p.R825Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000359930 |
| Start |
47665927:47665927(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1832T>C |
| AA Mutation |
p.Val611Ala(p.V611A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000359930 |
| Start |
47666339:47666339(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1726G>A |
| AA Mutation |
p.Asp576Asn(p.D576N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000359930 |
| Start |
47672221:47672221(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs140812797
|
| CDS Mutation |
c.1553G>A |
| AA Mutation |
p.Arg518His(p.R518H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|