| Mutation ID |
38 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000347230 |
| Start |
67752398:67752399(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.7316dupA |
| AA Mutation |
p.Asp2439GlufsTer31(p.D2439Efs*31) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
39 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000347230 |
| Start |
67752397:67752398(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.7317_7318insAATAAAGAT |
| AA Mutation |
p.Asp2439_Gly2440insAsnLysAsp(p.D2439_G2440insNKD) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ZFYVE26
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000347230 |
| Start |
67783466:67783466(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3686G>A |
| AA Mutation |
p.Ser1229Asn(p.S1229N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000347230 |
| Start |
67802187:67802187(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1531C>T |
| AA Mutation |
p.Leu511Phe(p.L511F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000347230 |
| Start |
67807680:67807680(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs765780851
|
| CDS Mutation |
c.604C>T |
| AA Mutation |
p.Arg202Trp(p.R202W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000347230 |
| Start |
67782812:67782812(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4340A>G |
| AA Mutation |
p.Lys1447Arg(p.K1447R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000347230 |
| Start |
67755241:67755241(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.6796C>T |
| AA Mutation |
p.Arg2266Trp(p.R2266W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000347230 |
| Start |
67807815:67807815(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.469C>T |
| AA Mutation |
p.Leu157Phe(p.L157F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000347230 |
| Start |
67798051:67798051(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2211G>T |
| AA Mutation |
p.Gln737His(p.Q737H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000347230 |
| Start |
67790625:67790625(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2702G>T |
| AA Mutation |
p.Arg901Ile(p.R901I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000347230 |
| Start |
67778180:67778180(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4743T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000347230 |
| Start |
67798492:67798492(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1770C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|