Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> DOCK2

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000256935
Start 170047588:170047588(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4045G>A
AA Mutation p.Gly1349Ser(p.G1349S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000256935
Start 170045853:170045853(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs370316549
CDS Mutation c.3914C>T
AA Mutation p.Ala1305Val(p.A1305V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000256935
Start 169654466:169654466(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs756449193
CDS Mutation c.107G>A
AA Mutation p.Arg36Gln(p.R36Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000256935
Start 169681847:169681847(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.574G>A
AA Mutation p.Asp192Asn(p.D192N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000256935
Start 169711989:169711989(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1537C>A
AA Mutation p.His513Asn(p.H513N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000256935
Start 170050350:170050350(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4166A>G
AA Mutation p.Asn1389Ser(p.N1389S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000256935
Start 170056734:170056734(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs752809875
CDS Mutation c.4346G>A
AA Mutation p.Arg1449His(p.R1449H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000256935
Start 170027872:170027872(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3391G>A
AA Mutation p.Glu1131Lys(p.E1131K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000256935
Start 169689284:169689284(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.794G>A
AA Mutation p.Gly265Asp(p.G265D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000256935
Start 169714430:169714430(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1914G>T
AA Mutation p.Lys638Asn(p.K638N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000256935
Start 170008515:170008515(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3091C>A
AA Mutation p.His1031Asn(p.H1031N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000256935
Start 169708215:169708215(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs778909898
CDS Mutation c.1430G>A
AA Mutation p.Arg477His(p.R477H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000256935
Start 169717461:169717461(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2109T>A
AA Mutation p.His703Gln(p.H703Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000256935
Start 169684215:169684215(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.626A>G
AA Mutation p.Tyr209Cys(p.Y209C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000256935
Start 170019011:170019011(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3284T>A
AA Mutation p.Met1095Lys(p.M1095K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000256935
Start 170050300:170050300(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4116A>C
AA Mutation p.Glu1372Asp(p.E1372D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000256935
Start 170080189:170080189(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5193T>A
AA Mutation p.Ser1731Arg(p.S1731R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000256935
Start 169689298:169689298(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.808A>T
AA Mutation p.Ile270Phe(p.I270F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000256935
Start 170080214:170080214(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs535531464
CDS Mutation c.5218G>A
AA Mutation p.Ala1740Thr(p.A1740T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000256935
Start 170079004:170079004(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201322810
CDS Mutation c.5024C>T
AA Mutation p.Thr1675Met(p.T1675M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000256935
Start 169996100:169996100(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3008C>T
AA Mutation p.Ala1003Val(p.A1003V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000256935
Start 170034542:170034542(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3611C>T
AA Mutation p.Thr1204Ile(p.T1204I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000256935
Start 170079082:170079082(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5102G>A
AA Mutation p.Arg1701Lys(p.R1701K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000256935
Start 170076019:170076019(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4801C>T
AA Mutation p.Arg1601Trp(p.R1601W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000256935
Start 170008597:170008597(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3173A>C
AA Mutation p.Lys1058Thr(p.K1058T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000256935
Start 170008521:170008521(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3097G>A
AA Mutation p.Ala1033Thr(p.A1033T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000256935
Start 169985862:169985862(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2933A>T
AA Mutation p.Asp978Val(p.D978V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000256935
Start 169702405:169702405(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs374175915
CDS Mutation c.1361C>T
AA Mutation p.Ala454Val(p.A454V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000256935
Start 170042023:170042023(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3767A>C
AA Mutation p.Glu1256Ala(p.E1256A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000256935
Start 170008726:170008726(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs750051021
CDS Mutation c.3212G>A
AA Mutation p.Arg1071His(p.R1071H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000256935
Start 170042077:170042077(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs145262338
CDS Mutation c.3821G>A
AA Mutation p.Arg1274Gln(p.R1274Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000256935
Start 169717414:169717414(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2062A>C
AA Mutation p.Lys688Gln(p.K688Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000256935
Start 170008565:170008565(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3141C>A
AA Mutation p.Phe1047Leu(p.F1047L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000256935
Start 170041120:170041120(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3731T>A
AA Mutation p.Leu1244His(p.L1244H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000256935
Start 170080163:170080163(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5167C>T
AA Mutation p.Leu1723Phe(p.L1723F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000256935
Start 170045892:170045892(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3953T>C
AA Mutation p.Leu1318Pro(p.L1318P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000256935
Start 169699394:169699394(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1068G>T
AA Mutation p.Glu356Asp(p.E356D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000256935
Start 169996109:169996109(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs763218061
CDS Mutation c.3017A>C
AA Mutation p.Lys1006Thr(p.K1006T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000256935
Start 170082851:170082851(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5486A>G
AA Mutation p.Asp1829Gly(p.D1829G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 40
Mutation Consequence missense_variant
Transcription ID ENST00000256935
Start 169714107:169714107(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1739C>G
AA Mutation p.Ala580Gly(p.A580G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 41
Mutation Consequence missense_variant
Transcription ID ENST00000256935
Start 170019013:170019013(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3286A>G
AA Mutation p.Thr1096Ala(p.T1096A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 42
Mutation Consequence missense_variant
Transcription ID ENST00000256935
Start 170057662:170057662(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs149796867
CDS Mutation c.4463C>T
AA Mutation p.Ser1488Leu(p.S1488L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 43
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000256935
Start 169708267:169708267(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1482G>T
AA Mutation p.Lys494Asn(p.K494N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 44
Mutation Consequence synonymous_variant
Transcription ID ENST00000256935
Start 169718738:169718738(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2214G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 45
Mutation Consequence synonymous_variant
Transcription ID ENST00000256935
Start 169759764:169759764(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs761164114
CDS Mutation c.2436G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 46
Mutation Consequence synonymous_variant
Transcription ID ENST00000256935
Start 169684321:169684321(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.732C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 47
Mutation Consequence synonymous_variant
Transcription ID ENST00000256935
Start 169695914:169695914(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.955C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 48
Mutation Consequence synonymous_variant
Transcription ID ENST00000256935
Start 170080213:170080213(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs148811648
CDS Mutation c.5217G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 49
Mutation Consequence synonymous_variant
Transcription ID ENST00000256935
Start 170045849:170045849(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3910C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 50
Mutation Consequence synonymous_variant
Transcription ID ENST00000256935
Start 170082810:170082810(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200128185
CDS Mutation c.5445G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 51
Mutation Consequence synonymous_variant
Transcription ID ENST00000256935
Start 170041127:170041127(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3738C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 52
Mutation Consequence synonymous_variant
Transcription ID ENST00000256935
Start 169714177:169714177(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs749704247
CDS Mutation c.1809C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 53
Mutation Consequence synonymous_variant
Transcription ID ENST00000256935
Start 169759713:169759713(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2385T>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 54
Mutation Consequence synonymous_variant
Transcription ID ENST00000256935
Start 170045836:170045836(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3897T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 55
Mutation Consequence synonymous_variant
Transcription ID ENST00000256935
Start 169671087:169671087(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.234G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 56
Mutation Consequence synonymous_variant
Transcription ID ENST00000256935
Start 170081849:170081849(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs370911923
CDS Mutation c.5295G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 57
Mutation Consequence stop_gained
Transcription ID ENST00000256935
Start 169747412:169747412(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2284G>T
AA Mutation p.Glu762Ter(p.E762*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 58
Mutation Consequence stop_gained
Transcription ID ENST00000256935
Start 169689268:169689268(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.778C>T
AA Mutation p.Arg260Ter(p.R260*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 59
Mutation Consequence stop_gained
Transcription ID ENST00000256935
Start 170050292:170050292(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4108C>T
AA Mutation p.Arg1370Ter(p.R1370*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 60
Mutation Consequence stop_gained
Transcription ID ENST00000256935
Start 169671121:169671121(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.268G>T
AA Mutation p.Glu90Ter(p.E90*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 61
Mutation Consequence stop_gained
Transcription ID ENST00000256935
Start 170067540:170067540(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4498G>T
AA Mutation p.Glu1500Ter(p.E1500*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 62
Mutation Consequence frameshift_variant
Transcription ID ENST00000256935
Start 170050344:170050345(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.4160_4161insAGGATGCTCATTAGAGATTT
AA Mutation p.Met1388GlyfsTer7(p.M1388Gfs*7)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 63
Mutation Consequence frameshift_variant
Transcription ID ENST00000256935
Start 170045899:170045900(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.3962dupA
AA Mutation p.Asn1321LysfsTer10(p.N1321Kfs*10)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 64
Mutation Consequence splice_donor_variant
Transcription ID ENST00000256935
Start 169761627:169761627(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2554+2T>C
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 65
Mutation Consequence splice_donor_variant
Transcription ID ENST00000256935
Start 170077838:170077838(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4994+1G>C
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 66
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000256935
Start 169712118:169712118(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1556-2A>C
Mutation Classification Splice_Site
Feature Type Transcript

Rectum Cancer: Gene >> DOCK2

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000256935
Start 170019064:170019064(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs557824061
CDS Mutation c.3337G>A
AA Mutation p.Asp1113Asn(p.D1113N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000256935
Start 170047527:170047527(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3984C>A
AA Mutation p.Phe1328Leu(p.F1328L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000256935
Start 169681827:169681827(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.554A>T
AA Mutation p.His185Leu(p.H185L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000256935
Start 170076032:170076032(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4814G>C
AA Mutation p.Cys1605Ser(p.C1605S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000256935
Start 170034424:170034424(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3493C>A
AA Mutation p.Pro1165Thr(p.P1165T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000256935
Start 169717424:169717424(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs761316602
CDS Mutation c.2072A>G
AA Mutation p.His691Arg(p.H691R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000256935
Start 169983138:169983138(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2870A>T
AA Mutation p.Glu957Val(p.E957V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000256935
Start 170056733:170056733(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4345C>T
AA Mutation p.Arg1449Cys(p.R1449C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000256935
Start 170042100:170042100(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs772944212
CDS Mutation c.3844G>A
AA Mutation p.Glu1282Lys(p.E1282K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000256935
Start 169695838:169695838(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.879T>G
AA Mutation p.Ile293Met(p.I293M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000256935
Start 170077783:170077783(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4940C>A
AA Mutation p.Ser1647Tyr(p.S1647Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000256935
Start 170019017:170019017(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3290T>G
AA Mutation p.Leu1097Arg(p.L1097R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000256935
Start 169702345:169702345(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1301A>G
AA Mutation p.Asp434Gly(p.D434G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000256935
Start 169714035:169714035(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1667G>A
AA Mutation p.Ser556Asn(p.S556N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000256935
Start 169681772:169681772(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.499G>T
AA Mutation p.Asp167Tyr(p.D167Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000256935
Start 169698388:169698388(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.994G>T
AA Mutation p.Asp332Tyr(p.D332Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000256935
Start 169712131:169712131(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1567G>A
AA Mutation p.Gly523Arg(p.G523R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000256935
Start 170056756:170056756(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4368G>T
AA Mutation p.Glu1456Asp(p.E1456D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000256935
Start 170067523:170067523(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4481C>A
AA Mutation p.Pro1494His(p.P1494H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence synonymous_variant
Transcription ID ENST00000256935
Start 170047530:170047530(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3987T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 21
Mutation Consequence synonymous_variant
Transcription ID ENST00000256935
Start 170008694:170008694(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3180G>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 22
Mutation Consequence synonymous_variant
Transcription ID ENST00000256935
Start 169695925:169695925(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.966C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 23
Mutation Consequence synonymous_variant
Transcription ID ENST00000256935
Start 170050276:170050276(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs142465529
CDS Mutation c.4092C>T
Mutation Classification Silent
Feature Type Transcript