Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> ROBO1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000464233
Start 78667985:78667985(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1864A>G
AA Mutation p.Lys622Glu(p.K622E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000464233
Start 78627328:78627328(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs761586528
CDS Mutation c.3868G>A
AA Mutation p.Asp1290Asn(p.D1290N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000464233
Start 78685873:78685873(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1215T>G
AA Mutation p.Phe405Leu(p.F405L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000464233
Start 78717401:78717401(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.791T>G
AA Mutation p.Phe264Cys(p.F264C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000464233
Start 78606775:78606775(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4702G>A
AA Mutation p.Ala1568Thr(p.A1568T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000464233
Start 78668189:78668189(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1744C>A
AA Mutation p.Gln582Lys(p.Q582K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000464233
Start 78607011:78607011(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4466C>T
AA Mutation p.Ala1489Val(p.A1489V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000464233
Start 78688742:78688742(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1076A>G
AA Mutation p.Asp359Gly(p.D359G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000464233
Start 78627379:78627379(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3817C>T
AA Mutation p.Pro1273Ser(p.P1273S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000464233
Start 78636084:78636084(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3062A>C
AA Mutation p.Asn1021Thr(p.N1021T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000464233
Start 79589827:79589827(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.85C>A
AA Mutation p.Pro29Thr(p.P29T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000464233
Start 78651746:78651746(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2798C>T
AA Mutation p.Ala933Val(p.A933V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000464233
Start 78662007:78662007(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs199577218
CDS Mutation c.2074G>A
AA Mutation p.Glu692Lys(p.E692K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000464233
Start 78651758:78651758(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2786C>A
AA Mutation p.Thr929Asn(p.T929N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000464233
Start 78617940:78617940(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs769052045
CDS Mutation c.3977C>T
AA Mutation p.Ala1326Val(p.A1326V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000464233
Start 78617946:78617946(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3971C>T
AA Mutation p.Thr1324Met(p.T1324M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000464233
Start 78635925:78635925(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3221C>T
AA Mutation p.Ala1074Val(p.A1074V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000464233
Start 78668021:78668021(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs141178745
CDS Mutation c.1828G>A
AA Mutation p.Val610Ile(p.V610I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000464233
Start 78639866:78639866(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs554782891
CDS Mutation c.2915C>T
AA Mutation p.Ala972Val(p.A972V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000464233
Start 78633944:78633944(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3472A>G
AA Mutation p.Ser1158Gly(p.S1158G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000464233
Start 78631187:78631187(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3600A>C
AA Mutation p.Glu1200Asp(p.E1200D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000464233
Start 78668251:78668251(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1682C>A
AA Mutation p.Pro561His(p.P561H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000464233
Start 78688746:78688746(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1072C>T
AA Mutation p.Arg358Cys(p.R358C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000464233
Start 78618039:78618039(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3878G>A
AA Mutation p.Arg1293Gln(p.R1293Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000464233
Start 78635845:78635845(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3301C>T
AA Mutation p.Pro1101Ser(p.P1101S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000464233
Start 78657257:78657257(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2455G>A
AA Mutation p.Gly819Ser(p.G819S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000464233
Start 78659767:78659767(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2361T>A
AA Mutation p.Asn787Lys(p.N787K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000464233
Start 78662052:78662052(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2029G>T
AA Mutation p.Val677Phe(p.V677F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000464233
Start 78661053:78661053(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2297A>T
AA Mutation p.Lys766Met(p.K766M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000464233
Start 78606966:78606966(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs767348611
CDS Mutation c.4511G>A
AA Mutation p.Arg1504Gln(p.R1504Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000464233
Start 78667936:78667936(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1913A>C
AA Mutation p.Asn638Thr(p.N638T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000464233
Start 78938729:78938729(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.371G>T
AA Mutation p.Ser124Ile(p.S124I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000464233
Start 78618040:78618040(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs370726850
CDS Mutation c.3877C>T
AA Mutation p.Arg1293Trp(p.R1293W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000464233
Start 78661222:78661222(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2128C>A
AA Mutation p.Leu710Ile(p.L710I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000464233
Start 78657196:78657196(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2516T>A
AA Mutation p.Ile839Asn(p.I839N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000464233
Start 78670178:78670178(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1466G>T
AA Mutation p.Arg489Ile(p.R489I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000464233
Start 78617758:78617758(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4159C>T
AA Mutation p.Arg1387Cys(p.R1387C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000464233
Start 78667901:78667901(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1948G>T
AA Mutation p.Asp650Tyr(p.D650Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000464233
Start 78617761:78617761(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4156G>A
AA Mutation p.Gly1386Arg(p.G1386R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 40
Mutation Consequence missense_variant
Transcription ID ENST00000464233
Start 79589872:79589872(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.40C>A
AA Mutation p.Leu14Ile(p.L14I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 41
Mutation Consequence synonymous_variant
Transcription ID ENST00000464233
Start 78635972:78635972(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3174G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 42
Mutation Consequence synonymous_variant
Transcription ID ENST00000464233
Start 78659740:78659740(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2388T>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 43
Mutation Consequence synonymous_variant
Transcription ID ENST00000464233
Start 78670228:78670228(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1416C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 44
Mutation Consequence synonymous_variant
Transcription ID ENST00000464233
Start 79589831:79589831(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.81T>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 45
Mutation Consequence synonymous_variant
Transcription ID ENST00000464233
Start 78717286:78717286(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs139049787
CDS Mutation c.906G>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 46
Mutation Consequence synonymous_variant
Transcription ID ENST00000464233
Start 78662062:78662062(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2019G>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 47
Mutation Consequence synonymous_variant
Transcription ID ENST00000464233
Start 78633972:78633972(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3444A>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 48
Mutation Consequence synonymous_variant
Transcription ID ENST00000464233
Start 78617732:78617732(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4185C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 49
Mutation Consequence synonymous_variant
Transcription ID ENST00000464233
Start 78617816:78617816(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs774597124
CDS Mutation c.4101G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 50
Mutation Consequence synonymous_variant
Transcription ID ENST00000464233
Start 78617801:78617801(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4116C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 51
Mutation Consequence synonymous_variant
Transcription ID ENST00000464233
Start 78627488:78627488(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3708A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 52
Mutation Consequence synonymous_variant
Transcription ID ENST00000464233
Start 78600155:78600155(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4899T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 53
Mutation Consequence synonymous_variant
Transcription ID ENST00000464233
Start 78639865:78639865(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs376608893
CDS Mutation c.2916G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 54
Mutation Consequence synonymous_variant
Transcription ID ENST00000464233
Start 78651742:78651742(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2802T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 55
Mutation Consequence synonymous_variant
Transcription ID ENST00000464233
Start 78606803:78606803(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4674T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 56
Mutation Consequence synonymous_variant
Transcription ID ENST00000464233
Start 78635990:78635990(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3156C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 57
Mutation Consequence synonymous_variant
Transcription ID ENST00000464233
Start 78600254:78600254(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4800T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 58
Mutation Consequence synonymous_variant
Transcription ID ENST00000464233
Start 78617939:78617939(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs775159753
CDS Mutation c.3978G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 59
Mutation Consequence frameshift_variant
Transcription ID ENST00000464233
Start 78607004:78607004(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4473delG
AA Mutation p.Lys1491AsnfsTer16(p.K1491Nfs*16)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 60
Mutation Consequence frameshift_variant
Transcription ID ENST00000464233
Start 78661085:78661085(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.2265delT
AA Mutation p.Phe755LeufsTer28(p.F755Lfs*28)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 61
Mutation Consequence stop_gained
Transcription ID ENST00000464233
Start 78600121:78600121(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4933G>T
AA Mutation p.Glu1645Ter(p.E1645*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 62
Mutation Consequence stop_gained
Transcription ID ENST00000464233
Start 78717880:78717880(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.661C>T
AA Mutation p.Arg221Ter(p.R221*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 63
Mutation Consequence stop_gained
Transcription ID ENST00000464233
Start 78659733:78659733(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2395C>T
AA Mutation p.Gln799Ter(p.Q799*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 64
Mutation Consequence frameshift_variant
Transcription ID ENST00000464233
Start 78606968:78606969(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.4508_4509insGTCA
AA Mutation p.Arg1504SerfsTer40(p.R1504Sfs*40)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 65
Mutation Consequence splice_donor_variant
Transcription ID ENST00000464233
Start 78717273:78717273(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.917+2T>C
Mutation Classification Splice_Site
Feature Type Transcript

Rectum Cancer: Gene >> ROBO1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000464233
Start 78938639:78938639(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.461G>A
AA Mutation p.Gly154Glu(p.G154E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000464233
Start 78938828:78938828(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.272C>G
AA Mutation p.Ala91Gly(p.A91G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000464233
Start 78618006:78618006(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs768272871
CDS Mutation c.3911C>T
AA Mutation p.Pro1304Leu(p.P1304L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000464233
Start 79125498:79125498(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.130A>C
AA Mutation p.Ile44Leu(p.I44L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000464233
Start 78717324:78717324(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.868G>A
AA Mutation p.Val290Ile(p.V290I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000464233
Start 78633989:78633989(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3427G>T
AA Mutation p.Asp1143Tyr(p.D1143Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000464233
Start 78614668:78614668(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs573160338
CDS Mutation c.4415G>A
AA Mutation p.Arg1472His(p.R1472H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000464233
Start 78627388:78627388(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3808G>A
AA Mutation p.Glu1270Lys(p.E1270K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000464233
Start 78651780:78651780(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs767615237
CDS Mutation c.2764C>T
AA Mutation p.Arg922Cys(p.R922C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000464233
Start 78659751:78659751(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2377G>T
AA Mutation p.Ala793Ser(p.A793S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000464233
Start 78667972:78667972(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1877C>A
AA Mutation p.Pro626His(p.P626H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000464233
Start 78617737:78617737(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4180G>C
AA Mutation p.Asp1394His(p.D1394H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000464233
Start 78600256:78600256(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4798G>T
AA Mutation p.Asp1600Tyr(p.D1600Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000464233
Start 78688764:78688764(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1054C>A
AA Mutation p.His352Asn(p.H352N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000464233
Start 78617817:78617817(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4100C>T
AA Mutation p.Thr1367Met(p.T1367M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence synonymous_variant
Transcription ID ENST00000464233
Start 78614781:78614781(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs558087386
CDS Mutation c.4302G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 17
Mutation Consequence synonymous_variant
Transcription ID ENST00000464233
Start 78639793:78639793(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs756175842
CDS Mutation c.2988G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 18
Mutation Consequence synonymous_variant
Transcription ID ENST00000464233
Start 78714503:78714503(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.939T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 19
Mutation Consequence synonymous_variant
Transcription ID ENST00000464233
Start 78634008:78634008(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3408C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 20
Mutation Consequence stop_gained
Transcription ID ENST00000464233
Start 78600121:78600121(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4933G>T
AA Mutation p.Glu1645Ter(p.E1645*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence frameshift_variant
Transcription ID ENST00000464233
Start 78661084:78661085(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.2265dupT
AA Mutation p.Asn756Ter(p.N756*)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript