| Mutation ID |
41 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000392056 |
| Start |
227995684:227995685(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4458dupT |
| AA Mutation |
p.Asp1487Ter(p.D1487*) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
42 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000392056 |
| Start |
228018296:228018298(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2556_2558delATG |
| AA Mutation |
p.Glu852_Cys853delinsAsp(p.E852_C853delinsD) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SPHKAP
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000392056 |
| Start |
228016475:228016475(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs368612893
|
| CDS Mutation |
c.4379C>T |
| AA Mutation |
p.Ser1460Leu(p.S1460L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000392056 |
| Start |
228017078:228017078(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3776C>A |
| AA Mutation |
p.Ser1259Tyr(p.S1259Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000392056 |
| Start |
228019781:228019781(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1073C>T |
| AA Mutation |
p.Ala358Val(p.A358V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000392056 |
| Start |
228016468:228016468(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4386C>A |
| AA Mutation |
p.Asp1462Glu(p.D1462E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000392056 |
| Start |
228020102:228020102(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs762864182
|
| CDS Mutation |
c.752G>A |
| AA Mutation |
p.Gly251Glu(p.G251E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000392056 |
| Start |
228020155:228020155(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.699T>G |
| AA Mutation |
p.Asp233Glu(p.D233E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000392056 |
| Start |
228019925:228019925(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.929G>T |
| AA Mutation |
p.Arg310Ile(p.R310I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000392056 |
| Start |
228017657:228017657(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs762844015
|
| CDS Mutation |
c.3197G>A |
| AA Mutation |
p.Arg1066Gln(p.R1066Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000392056 |
| Start |
228025408:228025408(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.427T>G |
| AA Mutation |
p.Phe143Val(p.F143V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000392056 |
| Start |
228108933:228108933(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.145C>T |
| AA Mutation |
p.Arg49Cys(p.R49C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000392056 |
| Start |
228018043:228018043(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2811C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000392056 |
| Start |
228018289:228018289(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2565C>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000392056 |
| Start |
227995577:227995577(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4566G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000392056 |
| Start |
228018277:228018277(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2577A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000392056 |
| Start |
227981744:227981744(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5076C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000392056 |
| Start |
228017284:228017284(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3570C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000392056 |
| Start |
228018868:228018868(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs61752224
|
| CDS Mutation |
c.1986C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000392056 |
| Start |
228021778:228021778(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.630C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
19 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000392056 |
| Start |
228132058:228132058(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.60C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|