| Mutation ID |
71 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000298910 |
| Start |
40284084:40284085(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2451_2452insGACTGCT |
| AA Mutation |
p.Leu818AspfsTer10(p.L818Dfs*10) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
72 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000298910 |
| Start |
40356119:40356120(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.6782dupA |
| AA Mutation |
p.Asn2261LysfsTer9(p.N2261Kfs*9) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> LRRK2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000298910 |
| Start |
40322468:40322468(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs72547980
|
| CDS Mutation |
c.5467C>A |
| AA Mutation |
p.Gln1823Lys(p.Q1823K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000298910 |
| Start |
40251254:40251254(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.981A>C |
| AA Mutation |
p.Gln327His(p.Q327H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000298910 |
| Start |
40314083:40314083(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4648C>T |
| AA Mutation |
p.Arg1550Trp(p.R1550W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000298910 |
| Start |
40310497:40310497(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs777298637
|
| CDS Mutation |
c.4384C>T |
| AA Mutation |
p.Arg1462Cys(p.R1462C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000298910 |
| Start |
40298298:40298298(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3152C>T |
| AA Mutation |
p.Pro1051Leu(p.P1051L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000298910 |
| Start |
40251284:40251284(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1011G>T |
| AA Mutation |
p.Glu337Asp(p.E337D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000298910 |
| Start |
40305956:40305956(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs573327331
|
| CDS Mutation |
c.3949G>T |
| AA Mutation |
p.Asp1317Tyr(p.D1317Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000298910 |
| Start |
40298370:40298370(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3224T>G |
| AA Mutation |
p.Val1075Gly(p.V1075G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000298910 |
| Start |
40340325:40340325(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5980G>T |
| AA Mutation |
p.Asp1994Tyr(p.D1994Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000298910 |
| Start |
40252985:40252985(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200357353
|
| CDS Mutation |
c.1257G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000298910 |
| Start |
40323188:40323188(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5538A>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000298910 |
| Start |
40240487:40240487(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.576A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000298910 |
| Start |
40259577:40259577(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs150368439
|
| CDS Mutation |
c.1516C>T |
| AA Mutation |
p.Arg506Ter(p.R506*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000298910 |
| Start |
40293598:40293598(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2743G>T |
| AA Mutation |
p.Glu915Ter(p.E915*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000298910 |
| Start |
40322067:40322067(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5203C>T |
| AA Mutation |
p.Arg1735Ter(p.R1735*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000298910 |
| Start |
40249825:40249825(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.839-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000298910 |
| Start |
40299108:40299108(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3348-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000298910 |
| Start |
40367005:40367005(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.7391-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|