| Mutation ID |
58 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000296755 |
| Start |
72199421:72199422(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.6066_6067insGC |
| AA Mutation |
p.Tyr2023AlafsTer214(p.Y2023Afs*214) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
59 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000296755 |
| Start |
72183742:72183742(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.287-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> MAP1B
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000296755 |
| Start |
72195069:72195069(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs772620413
|
| CDS Mutation |
c.1714A>G |
| AA Mutation |
p.Asn572Asp(p.N572D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000296755 |
| Start |
72195945:72195945(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs756153336
|
| CDS Mutation |
c.2590G>A |
| AA Mutation |
p.Glu864Lys(p.E864K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000296755 |
| Start |
72199936:72199936(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs746663170
|
| CDS Mutation |
c.6581C>T |
| AA Mutation |
p.Thr2194Met(p.T2194M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000296755 |
| Start |
72194325:72194325(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.970T>A |
| AA Mutation |
p.Leu324Ile(p.L324I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000296755 |
| Start |
72194041:72194041(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.686T>G |
| AA Mutation |
p.Phe229Cys(p.F229C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000296755 |
| Start |
72194736:72194736(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1381C>A |
| AA Mutation |
p.Leu461Ile(p.L461I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000296755 |
| Start |
72195575:72195575(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2220G>T |
| AA Mutation |
p.Lys740Asn(p.K740N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000296755 |
| Start |
72196915:72196915(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3560C>A |
| AA Mutation |
p.Ser1187Tyr(p.S1187Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000296755 |
| Start |
72197463:72197463(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4108G>T |
| AA Mutation |
p.Asp1370Tyr(p.D1370Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000296755 |
| Start |
72198476:72198476(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5121G>T |
| AA Mutation |
p.Glu1707Asp(p.E1707D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000296755 |
| Start |
72196619:72196619(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3264G>T |
| AA Mutation |
p.Glu1088Asp(p.E1088D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000296755 |
| Start |
72199198:72199198(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs139240427
|
| CDS Mutation |
c.5843G>A |
| AA Mutation |
p.Arg1948Gln(p.R1948Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000296755 |
| Start |
72199493:72199493(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.6138G>T |
| AA Mutation |
p.Glu2046Asp(p.E2046D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000296755 |
| Start |
72194317:72194317(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.962A>G |
| AA Mutation |
p.Asn321Ser(p.N321S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000296755 |
| Start |
72195541:72195541(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2186A>C |
| AA Mutation |
p.Lys729Thr(p.K729T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000296755 |
| Start |
72196430:72196430(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3075A>C |
| AA Mutation |
p.Lys1025Asn(p.K1025N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000296755 |
| Start |
72197595:72197595(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4240C>A |
| AA Mutation |
p.Leu1414Ile(p.L1414I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000296755 |
| Start |
72198579:72198579(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs568428215
|
| CDS Mutation |
c.5224G>A |
| AA Mutation |
p.Ala1742Thr(p.A1742T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
19 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000296755 |
| Start |
72199076:72199076(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5721G>T |
| AA Mutation |
p.Glu1907Asp(p.E1907D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
20 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000296755 |
| Start |
72199571:72199571(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.6216C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
21 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000296755 |
| Start |
72186664:72186664(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs765418185
|
| CDS Mutation |
c.420C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
22 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000296755 |
| Start |
72200195:72200195(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.6840C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
23 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000296755 |
| Start |
72194474:72194474(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1119G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
24 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000296755 |
| Start |
72197898:72197898(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4543G>T |
| AA Mutation |
p.Glu1515Ter(p.E1515*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|