| Mutation ID |
13 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000357311 |
| Start |
105142416:105142417(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1101_1102insTCCT |
| AA Mutation |
p.Gln368SerfsTer16(p.Q368Sfs*16) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
inframe_deletion;splice_region_variant |
| Transcription ID |
ENST00000357311 |
| Start |
105118020:105118022(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1883_1885delGAG |
| AA Mutation |
p.Gly628del(p.G628del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SRPK2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357311 |
| Start |
105126254:105126254(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1876C>T |
| AA Mutation |
p.Arg626Cys(p.R626C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357311 |
| Start |
105203631:105203631(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.193A>G |
| AA Mutation |
p.Lys65Glu(p.K65E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357311 |
| Start |
105268826:105268826(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.18G>T |
| AA Mutation |
p.Glu6Asp(p.E6D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357311 |
| Start |
105160533:105160533(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.562C>T |
| AA Mutation |
p.Arg188Cys(p.R188C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000357311 |
| Start |
105118014:105118014(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1891C>T |
| AA Mutation |
p.Arg631Ter(p.R631*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|