| Mutation ID |
41 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000283195 |
| Start |
108766505:108766506(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5966_5967insTATCCTG |
| AA Mutation |
p.Lys1989AsnfsTer9(p.K1989Nfs*9) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
42 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000283195 |
| Start |
108749023:108749024(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1167_1168insAAAAAAAAATTTAAGTTA |
| AA Mutation |
p.Leu389_Phe390insLysLysLysPheLysLeu(p.L389_F390insKKKFKL) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> RANBP2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000283195 |
| Start |
108765203:108765203(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4664G>A |
| AA Mutation |
p.Arg1555Gln(p.R1555Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000283195 |
| Start |
108781274:108781274(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.8605A>C |
| AA Mutation |
p.Asn2869His(p.N2869H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000283195 |
| Start |
108767661:108767661(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.7122G>T |
| AA Mutation |
p.Arg2374Ser(p.R2374S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000283195 |
| Start |
108768248:108768248(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.7709G>T |
| AA Mutation |
p.Ser2570Ile(p.S2570I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000283195 |
| Start |
108753014:108753014(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1772C>A |
| AA Mutation |
p.Ser591Tyr(p.S591Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000283195 |
| Start |
108764230:108764230(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3691C>T |
| AA Mutation |
p.Arg1231Cys(p.R1231C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000283195 |
| Start |
108764474:108764474(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3935T>C |
| AA Mutation |
p.Val1312Ala(p.V1312A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000283195 |
| Start |
108767671:108767671(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.7132T>G |
| AA Mutation |
p.Leu2378Val(p.L2378V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000283195 |
| Start |
108767843:108767843(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.7304T>G |
| AA Mutation |
p.Ile2435Ser(p.I2435S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000283195 |
| Start |
108751918:108751918(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1679A>C |
| AA Mutation |
p.Asn560Thr(p.N560T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000283195 |
| Start |
108764143:108764143(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3604T>C |
| AA Mutation |
p.Phe1202Leu(p.F1202L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000283195 |
| Start |
108782293:108782293(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.8926G>T |
| AA Mutation |
p.Asp2976Tyr(p.D2976Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000283195 |
| Start |
108782607:108782607(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.9114A>C |
| AA Mutation |
p.Glu3038Asp(p.E3038D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000283195 |
| Start |
108768144:108768144(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs535331371
|
| CDS Mutation |
c.7605C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000283195 |
| Start |
108751919:108751919(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1680C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000283195 |
| Start |
108763293:108763293(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs542711340
|
| CDS Mutation |
c.2754G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000283195 |
| Start |
108766145:108766145(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5606C>A |
| AA Mutation |
p.Ser1869Ter(p.S1869*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000283195 |
| Start |
108772879:108772879(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.8125G>T |
| AA Mutation |
p.Glu2709Ter(p.E2709*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|