| Mutation ID |
96 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000295550 |
| Start |
237345179:237345179(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.7125+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
97 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000295550 |
| Start |
237342063:237342063(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.7765+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> COL6A3
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295550 |
| Start |
237336275:237336275(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs757146083
|
| CDS Mutation |
c.8825C>T |
| AA Mutation |
p.Ala2942Val(p.A2942V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295550 |
| Start |
237339043:237339043(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.8539A>G |
| AA Mutation |
p.Asn2847Asp(p.N2847D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295550 |
| Start |
237381310:237381310(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs776324215
|
| CDS Mutation |
c.1502C>T |
| AA Mutation |
p.Thr501Ile(p.T501I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295550 |
| Start |
237340938:237340938(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.7978C>A |
| AA Mutation |
p.His2660Asn(p.H2660N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295550 |
| Start |
237380981:237380981(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs372255458
|
| CDS Mutation |
c.1831G>A |
| AA Mutation |
p.Ala611Thr(p.A611T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295550 |
| Start |
237336464:237336464(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs150907698
|
| CDS Mutation |
c.8636C>T |
| AA Mutation |
p.Thr2879Met(p.T2879M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295550 |
| Start |
237381182:237381182(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs749113845
|
| CDS Mutation |
c.1630C>T |
| AA Mutation |
p.Arg544Trp(p.R544W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295550 |
| Start |
237340673:237340673(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs115595706
|
| CDS Mutation |
c.8243C>T |
| AA Mutation |
p.Pro2748Leu(p.P2748L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295550 |
| Start |
237379151:237379151(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1982T>G |
| AA Mutation |
p.Phe661Cys(p.F661C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295550 |
| Start |
237351177:237351177(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs372154635
|
| CDS Mutation |
c.6769G>A |
| AA Mutation |
p.Ala2257Thr(p.A2257T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295550 |
| Start |
237360107:237360107(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs113896755
|
| CDS Mutation |
c.6263C>T |
| AA Mutation |
p.Pro2088Leu(p.P2088L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295550 |
| Start |
237368970:237368970(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs146629310
|
| CDS Mutation |
c.4493C>T |
| AA Mutation |
p.Pro1498Leu(p.P1498L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295550 |
| Start |
237334842:237334842(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs551422404
|
| CDS Mutation |
c.9013G>A |
| AA Mutation |
p.Ala3005Thr(p.A3005T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295550 |
| Start |
237340542:237340542(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs746208987
|
| CDS Mutation |
c.8374G>A |
| AA Mutation |
p.Asp2792Asn(p.D2792N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295550 |
| Start |
237341061:237341061(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs756654349
|
| CDS Mutation |
c.7855G>A |
| AA Mutation |
p.Asp2619Asn(p.D2619N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295550 |
| Start |
237365999:237365999(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5537C>A |
| AA Mutation |
p.Ser1846Tyr(p.S1846Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295550 |
| Start |
237381020:237381020(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs778400474
|
| CDS Mutation |
c.1792G>A |
| AA Mutation |
p.Asp598Asn(p.D598N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295550 |
| Start |
237388107:237388107(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs774576681
|
| CDS Mutation |
c.787G>A |
| AA Mutation |
p.Asp263Asn(p.D263N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
19 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295550 |
| Start |
237336264:237336264(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.8836G>T |
| AA Mutation |
p.Ala2946Ser(p.A2946S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
20 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295550 |
| Start |
237344448:237344448(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.7570C>A |
| AA Mutation |
p.Pro2524Thr(p.P2524T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
21 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295550 |
| Start |
237394693:237394693(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs540844413
|
| CDS Mutation |
c.603G>T |
| AA Mutation |
p.Glu201Asp(p.E201D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
22 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295550 |
| Start |
237395151:237395151(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.145A>G |
| AA Mutation |
p.Thr49Ala(p.T49A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
23 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295550 |
| Start |
237374901:237374901(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs369810455
|
| CDS Mutation |
c.3190C>T |
| AA Mutation |
p.Arg1064Trp(p.R1064W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
24 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295550 |
| Start |
237344505:237344505(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs545819982
|
| CDS Mutation |
c.7513G>A |
| AA Mutation |
p.Gly2505Arg(p.G2505R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
25 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000295550 |
| Start |
237336355:237336355(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs112382351
|
| CDS Mutation |
c.8745G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
26 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000295550 |
| Start |
237340543:237340543(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs770214487
|
| CDS Mutation |
c.8373C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
27 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000295550 |
| Start |
237366817:237366817(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs775654736
|
| CDS Mutation |
c.5370G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
28 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000295550 |
| Start |
237394744:237394744(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs542204130
|
| CDS Mutation |
c.552G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
29 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000295550 |
| Start |
237336274:237336274(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs751580746
|
| CDS Mutation |
c.8826G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
30 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000295550 |
| Start |
237336460:237336460(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs746309230
|
| CDS Mutation |
c.8640G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
31 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000295550 |
| Start |
237387685:237387685(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs373903065
|
| CDS Mutation |
c.1209G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
32 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000295550 |
| Start |
237374821:237374821(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs113781746
|
| CDS Mutation |
c.3270C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
33 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000295550 |
| Start |
237388029:237388029(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs767654047
|
| CDS Mutation |
c.865G>T |
| AA Mutation |
p.Glu289Ter(p.E289*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|