| Mutation ID |
24 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000260128 |
| Start |
69576013:69576014(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs777856970
|
| CDS Mutation |
c.223dupG |
| AA Mutation |
p.Ala75GlyfsTer48(p.A75Gfs*48) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
25 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000260128 |
| Start |
69621205:69621206(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1548_1549insTTG |
| AA Mutation |
p.Ser516_Gln517insLeu(p.S516_Q517insL) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SULF1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000260128 |
| Start |
69638582:69638582(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2365C>A |
| AA Mutation |
p.Leu789Ile(p.L789I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000260128 |
| Start |
69638849:69638849(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2542C>A |
| AA Mutation |
p.Leu848Ile(p.L848I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000260128 |
| Start |
69629638:69629638(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs746878657
|
| CDS Mutation |
c.2243C>T |
| AA Mutation |
p.Thr748Met(p.T748M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000260128 |
| Start |
69603205:69603205(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs140542311
|
| CDS Mutation |
c.1075G>A |
| AA Mutation |
p.Val359Ile(p.V359I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000260128 |
| Start |
69640808:69640808(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2552G>A |
| AA Mutation |
p.Gly851Glu(p.G851E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000260128 |
| Start |
69600645:69600645(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.777G>T |
| AA Mutation |
p.Trp259Cys(p.W259C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000260128 |
| Start |
69628223:69628223(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2095C>A |
| AA Mutation |
p.Leu699Ile(p.L699I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000260128 |
| Start |
69638555:69638555(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs751109620
|
| CDS Mutation |
c.2338C>T |
| AA Mutation |
p.Arg780Cys(p.R780C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000260128 |
| Start |
69586400:69586400(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs756737948
|
| CDS Mutation |
c.456C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000260128 |
| Start |
69621224:69621224(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1567C>T |
| AA Mutation |
p.Gln523Ter(p.Q523*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000260128 |
| Start |
69600602:69600602(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.735-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|