| Mutation ID |
33 |
| Mutation Consequence |
stop_gained;splice_region_variant |
| Transcription ID |
ENST00000299687 |
| Start |
74889920:74889920(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5131G>T |
| AA Mutation |
p.Glu1711Ter(p.E1711*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
34 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000299687 |
| Start |
74635658:74635658(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4639C>T |
| AA Mutation |
p.Arg1547Ter(p.R1547*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ZNF407
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000299687 |
| Start |
75063254:75063254(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs112538866
|
| CDS Mutation |
c.5533G>A |
| AA Mutation |
p.Val1845Ile(p.V1845I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000299687 |
| Start |
74631742:74631742(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.723G>T |
| AA Mutation |
p.Gln241His(p.Q241H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000299687 |
| Start |
74632960:74632960(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1941G>T |
| AA Mutation |
p.Lys647Asn(p.K647N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000299687 |
| Start |
74635157:74635157(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4138A>T |
| AA Mutation |
p.Ile1380Leu(p.I1380L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000299687 |
| Start |
74631585:74631585(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.566G>T |
| AA Mutation |
p.Ser189Ile(p.S189I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000299687 |
| Start |
74633706:74633706(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs781300976
|
| CDS Mutation |
c.2687G>A |
| AA Mutation |
p.Arg896His(p.R896H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000299687 |
| Start |
74635659:74635659(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4640G>A |
| AA Mutation |
p.Arg1547Gln(p.R1547Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000299687 |
| Start |
74920537:74920537(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs751415518
|
| CDS Mutation |
c.5273G>A |
| AA Mutation |
p.Arg1758His(p.R1758H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000299687 |
| Start |
74632698:74632698(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs755995851
|
| CDS Mutation |
c.1679G>A |
| AA Mutation |
p.Arg560His(p.R560H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000299687 |
| Start |
74634759:74634759(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3740G>T |
| AA Mutation |
p.Arg1247Ile(p.R1247I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000299687 |
| Start |
74635257:74635257(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4238G>T |
| AA Mutation |
p.Arg1413Leu(p.R1413L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000299687 |
| Start |
75064375:75064375(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.6654G>T |
| AA Mutation |
p.Gln2218His(p.Q2218H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000299687 |
| Start |
75063967:75063967(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs757353337
|
| CDS Mutation |
c.6246C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000299687 |
| Start |
74631523:74631523(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.504C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000299687 |
| Start |
75063763:75063763(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs369887612
|
| CDS Mutation |
c.6042C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000299687 |
| Start |
75064021:75064021(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs527541602
|
| CDS Mutation |
c.6300C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000299687 |
| Start |
74631190:74631190(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.171G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
protein_altering_variant |
| Transcription ID |
ENST00000299687 |
| Start |
74632968:74632969(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1949_1950insTATTCTGCCAAGCTCCCTGGCTGCTGACCTCCAGTGGGCTGATCC |
| AA Mutation |
p.Gln650delinsHisIleLeuProSerSerLeuAlaAlaAspLeuGlnTrpAlaAspPro(p.Q650delinsHILPSSLAADLQWADP) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
|