| Mutation ID |
38 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000361673 |
| Start |
58579708:58579709(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs756508755
|
| CDS Mutation |
c.1067dupT |
| AA Mutation |
p.Leu356PhefsTer6(p.L356Ffs*6) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
39 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000361673 |
| Start |
58580011:58580012(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.764_765insGGTT |
| AA Mutation |
p.Gly256ValfsTer6(p.G256Vfs*6) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ALPK2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361673 |
| Start |
58481837:58481837(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs543965909
|
| CDS Mutation |
c.6499G>A |
| AA Mutation |
p.Glu2167Lys(p.E2167K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361673 |
| Start |
58535860:58535860(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4327C>A |
| AA Mutation |
p.His1443Asn(p.H1443N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361673 |
| Start |
58517141:58517141(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs770674676
|
| CDS Mutation |
c.5707G>T |
| AA Mutation |
p.Asp1903Tyr(p.D1903Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361673 |
| Start |
58580207:58580207(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.569C>A |
| AA Mutation |
p.Pro190His(p.P190H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361673 |
| Start |
58535319:58535319(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4868T>C |
| AA Mutation |
p.Ile1623Thr(p.I1623T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361673 |
| Start |
58607360:58607360(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs766605419
|
| CDS Mutation |
c.189C>A |
| AA Mutation |
p.Phe63Leu(p.F63L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000361673 |
| Start |
58579234:58579234(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs749206916
|
| CDS Mutation |
c.1542G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000361673 |
| Start |
58579208:58579208(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1568delA |
| AA Mutation |
p.Lys523ArgfsTer15(p.K523Rfs*15) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000361673 |
| Start |
58504072:58504072(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.6106G>T |
| AA Mutation |
p.Glu2036Ter(p.E2036*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|