| Mutation ID |
11 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000236980 |
| Start |
206766899:206766900(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.206_207insTCCTGAAAGAGAT |
| AA Mutation |
p.Gln69HisfsTer8(p.Q69Hfs*8) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000236980 |
| Start |
206772180:206772180(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1115-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> FASTKD2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000236980 |
| Start |
206766991:206766991(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.298G>A |
| AA Mutation |
p.Ala100Thr(p.A100T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000236980 |
| Start |
206786839:206786839(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs771715271
|
| CDS Mutation |
c.1534C>T |
| AA Mutation |
p.Pro512Ser(p.P512S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000236980 |
| Start |
206766893:206766893(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs754050859
|
| CDS Mutation |
c.200G>T |
| AA Mutation |
p.Arg67Ile(p.R67I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000236980 |
| Start |
206788893:206788893(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1888G>T |
| AA Mutation |
p.Asp630Tyr(p.D630Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000236980 |
| Start |
206788118:206788118(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1776C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000236980 |
| Start |
206774264:206774264(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs118203917
|
| CDS Mutation |
c.1294C>T |
| AA Mutation |
p.Arg432Ter(p.R432*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|