| Mutation ID |
25 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000313478 |
| Start |
50634462:50634463(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.926dupC |
| AA Mutation |
p.Val310CysfsTer7(p.V310Cfs*7) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
26 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000313478 |
| Start |
50609579:50609579(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2580+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> TRPM7
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000313478 |
| Start |
50561692:50561692(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs753258420
|
| CDS Mutation |
c.5584C>T |
| AA Mutation |
p.Arg1862Cys(p.R1862C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000313478 |
| Start |
50592138:50592138(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs770548523
|
| CDS Mutation |
c.4097G>A |
| AA Mutation |
p.Arg1366Gln(p.R1366Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000313478 |
| Start |
50593633:50593633(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3592C>A |
| AA Mutation |
p.Arg1198Ser(p.R1198S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000313478 |
| Start |
50614124:50614124(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs552343920
|
| CDS Mutation |
c.1634G>A |
| AA Mutation |
p.Arg545Gln(p.R545Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000313478 |
| Start |
50609633:50609633(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs377252016
|
| CDS Mutation |
c.2528G>A |
| AA Mutation |
p.Arg843Gln(p.R843Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000313478 |
| Start |
50637433:50637433(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.821G>T |
| AA Mutation |
p.Arg274Ile(p.R274I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000313478 |
| Start |
50657800:50657800(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.103A>T |
| AA Mutation |
p.Ile35Phe(p.I35F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000313478 |
| Start |
50574396:50574396(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5186A>T |
| AA Mutation |
p.Lys1729Ile(p.K1729I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000313478 |
| Start |
50593632:50593632(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs745779161
|
| CDS Mutation |
c.3593G>A |
| AA Mutation |
p.Arg1198His(p.R1198H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000313478 |
| Start |
50609844:50609844(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2398G>A |
| AA Mutation |
p.Glu800Lys(p.E800K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000313478 |
| Start |
50599131:50599131(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3154G>T |
| AA Mutation |
p.Glu1052Ter(p.E1052*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|