| Mutation ID |
27 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000264790 |
| Start |
89935669:89935670(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1989_1990insTTTGATTTAAC |
| AA Mutation |
p.Thr664PhefsTer13(p.T664Ffs*13) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
28 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000264790 |
| Start |
89952996:89952996(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3266-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> MMRN1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264790 |
| Start |
89934941:89934941(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs534739687
|
| CDS Mutation |
c.1261G>A |
| AA Mutation |
p.Glu421Lys(p.E421K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264790 |
| Start |
89935516:89935516(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs552543975
|
| CDS Mutation |
c.1836G>T |
| AA Mutation |
p.Glu612Asp(p.E612D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264790 |
| Start |
89895060:89895060(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.89C>T |
| AA Mutation |
p.Pro30Leu(p.P30L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264790 |
| Start |
89895453:89895453(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.482G>A |
| AA Mutation |
p.Gly161Asp(p.G161D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264790 |
| Start |
89927876:89927876(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1037C>T |
| AA Mutation |
p.Ser346Phe(p.S346F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264790 |
| Start |
89935892:89935892(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2212G>T |
| AA Mutation |
p.Ala738Ser(p.A738S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264790 |
| Start |
89936409:89936409(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2729C>A |
| AA Mutation |
p.Ser910Tyr(p.S910Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264790 |
| Start |
89895105:89895105(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.134C>G |
| AA Mutation |
p.Pro45Arg(p.P45R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000264790 |
| Start |
89923211:89923211(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.894T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000264790 |
| Start |
89895472:89895472(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs777792571
|
| CDS Mutation |
c.501C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
stop_gained;frameshift_variant |
| Transcription ID |
ENST00000264790 |
| Start |
89935515:89935516(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1861_1862insGAGAACTTCAGCCAATGTTTGAATTTACATGTGTTAAATCAAACAT |
| AA Mutation |
p.Leu621Ter(p.L621*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000264790 |
| Start |
89927947:89927947(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1108G>T |
| AA Mutation |
p.Glu370Ter(p.E370*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|