| Mutation ID |
115 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000529681 |
| Start |
1233140:1233145(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2197_2202delACCTGC |
| AA Mutation |
p.Thr733_Cys734del(p.T733_C734del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
| Mutation ID |
116 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000529681 |
| Start |
1243686:1243687(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.6810_6812dupGAC |
| AA Mutation |
p.Thr2272dup(p.T2272dup) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> MUC5B
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000529681 |
| Start |
1235152:1235152(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2698G>A |
| AA Mutation |
p.Asp900Asn(p.D900N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000529681 |
| Start |
1249109:1249109(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs756147882
|
| CDS Mutation |
c.12229G>A |
| AA Mutation |
p.Glu4077Lys(p.E4077K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000529681 |
| Start |
1251173:1251173(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.14293C>G |
| AA Mutation |
p.Pro4765Ala(p.P4765A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000529681 |
| Start |
1247982:1247982(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs771859803
|
| CDS Mutation |
c.11102C>G |
| AA Mutation |
p.Thr3701Ser(p.T3701S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000529681 |
| Start |
1242621:1242621(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5741C>T |
| AA Mutation |
p.Ala1914Val(p.A1914V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000529681 |
| Start |
1246938:1246938(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.10058C>A |
| AA Mutation |
p.Pro3353Gln(p.P3353Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000529681 |
| Start |
1250418:1250418(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs577474281
|
| CDS Mutation |
c.13538C>T |
| AA Mutation |
p.Thr4513Ile(p.T4513I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000529681 |
| Start |
1245278:1245278(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs371403707
|
| CDS Mutation |
c.8398G>A |
| AA Mutation |
p.Gly2800Ser(p.G2800S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000529681 |
| Start |
1247277:1247277(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs762917439
|
| CDS Mutation |
c.10397C>T |
| AA Mutation |
p.Thr3466Met(p.T3466M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000529681 |
| Start |
1245760:1245760(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.8880A>C |
| AA Mutation |
p.Glu2960Asp(p.E2960D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000529681 |
| Start |
1239888:1239888(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs763902961
|
| CDS Mutation |
c.3673G>A |
| AA Mutation |
p.Gly1225Arg(p.G1225R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000529681 |
| Start |
1229245:1229245(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1052G>T |
| AA Mutation |
p.Arg351Leu(p.R351L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000529681 |
| Start |
1235180:1235180(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2726A>G |
| AA Mutation |
p.Asp909Gly(p.D909G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000529681 |
| Start |
1250333:1250333(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.13453G>A |
| AA Mutation |
p.Ala4485Thr(p.A4485T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000529681 |
| Start |
1251325:1251325(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs367833762
|
| CDS Mutation |
c.14445G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000529681 |
| Start |
1246807:1246807(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs533261138
|
| CDS Mutation |
c.9927G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000529681 |
| Start |
1249855:1249855(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.12975C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000529681 |
| Start |
1251058:1251058(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.14178C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
19 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000529681 |
| Start |
1237113:1237113(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3246G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
20 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000529681 |
| Start |
1241134:1241134(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs576576767
|
| CDS Mutation |
c.4254C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
21 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000529681 |
| Start |
1250044:1250044(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs370908099
|
| CDS Mutation |
c.13164G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
22 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000529681 |
| Start |
1243609:1243609(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.6729T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
23 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000529681 |
| Start |
1244215:1244215(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs780224176
|
| CDS Mutation |
c.7335G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|