| Mutation ID |
36 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000012134 |
| Start |
142774120:142774121(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.618dupA |
| AA Mutation |
p.His207ThrfsTer38(p.H207Tfs*38) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
37 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000012134 |
| Start |
142753473:142753474(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.6974dupA |
| AA Mutation |
p.Asn2325LysfsTer44(p.N2325Kfs*44) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> HIVEP2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000012134 |
| Start |
142759791:142759791(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.6497C>A |
| AA Mutation |
p.Pro2166Gln(p.P2166Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000012134 |
| Start |
142769567:142769567(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5172G>T |
| AA Mutation |
p.Trp1724Cys(p.W1724C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000012134 |
| Start |
142764966:142764966(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs760888393
|
| CDS Mutation |
c.5351C>T |
| AA Mutation |
p.Ser1784Leu(p.S1784L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000012134 |
| Start |
142774224:142774224(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.515A>G |
| AA Mutation |
p.Gln172Arg(p.Q172R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000012134 |
| Start |
142774119:142774119(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.620A>T |
| AA Mutation |
p.His207Leu(p.H207L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000012134 |
| Start |
142772095:142772095(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2644C>T |
| AA Mutation |
p.Arg882Trp(p.R882W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000012134 |
| Start |
142753541:142753541(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.6907C>T |
| AA Mutation |
p.Arg2303Trp(p.R2303W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000012134 |
| Start |
142773063:142773063(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1676C>A |
| AA Mutation |
p.Ser559Tyr(p.S559Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000012134 |
| Start |
142770445:142770445(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4294G>A |
| AA Mutation |
p.Val1432Met(p.V1432M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000012134 |
| Start |
142768394:142768394(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5330T>C |
| AA Mutation |
p.Ile1777Thr(p.I1777T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000012134 |
| Start |
142772742:142772742(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1997C>A |
| AA Mutation |
p.Ser666Tyr(p.S666Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000012134 |
| Start |
142774311:142774311(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.428T>G |
| AA Mutation |
p.Ile143Arg(p.I143R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000012134 |
| Start |
142769594:142769594(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs753009520
|
| CDS Mutation |
c.5145C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000012134 |
| Start |
142770821:142770821(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3918T>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000012134 |
| Start |
142753818:142753818(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.6630C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000012134 |
| Start |
142773464:142773464(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1275C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|