| Mutation ID |
23 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000521059 |
| Start |
140761221:140761221(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1276C>T |
| AA Mutation |
p.Arg426Ter(p.R426*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
24 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000521059 |
| Start |
140686695:140686695(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2500-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PTK2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000521059 |
| Start |
140818940:140818940(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.729C>A |
| AA Mutation |
p.Phe243Leu(p.F243L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000521059 |
| Start |
140864388:140864388(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.374G>A |
| AA Mutation |
p.Arg125Lys(p.R125K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000521059 |
| Start |
140879561:140879561(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.272G>A |
| AA Mutation |
p.Arg91Gln(p.R91Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000521059 |
| Start |
140761189:140761189(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1308A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000521059 |
| Start |
140846306:140846307(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.546_547insCCA |
| AA Mutation |
p.Glu182_Met183insPro(p.E182_M183insP) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
|