Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> ANKRD11

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000301030
Start 89288569:89288569(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.703G>A
AA Mutation p.Asp235Asn(p.D235N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000301030
Start 89290726:89290726(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs753840915
CDS Mutation c.500G>A
AA Mutation p.Arg167His(p.R167H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000301030
Start 89284584:89284584(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1958A>T
AA Mutation p.Lys653Met(p.K653M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000301030
Start 89285455:89285455(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1087G>A
AA Mutation p.Asp363Asn(p.D363N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000301030
Start 89283794:89283794(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2748C>A
AA Mutation p.Asn916Lys(p.N916K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000301030
Start 89288594:89288594(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.678G>T
AA Mutation p.Glu226Asp(p.E226D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000301030
Start 89284024:89284024(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs761259443
CDS Mutation c.2518C>T
AA Mutation p.Arg840Trp(p.R840W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000301030
Start 89279229:89279229(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7313A>T
AA Mutation p.Tyr2438Phe(p.Y2438F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000301030
Start 89281258:89281258(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5284G>A
AA Mutation p.Asp1762Asn(p.D1762N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000301030
Start 89281572:89281572(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs749114664
CDS Mutation c.4970C>T
AA Mutation p.Ser1657Leu(p.S1657L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000301030
Start 89280672:89280672(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5870C>T
AA Mutation p.Ala1957Val(p.A1957V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000301030
Start 89282086:89282086(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs189656772
CDS Mutation c.4456C>T
AA Mutation p.Arg1486Trp(p.R1486W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000301030
Start 89284003:89284003(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs565590201
CDS Mutation c.2539G>A
AA Mutation p.Asp847Asn(p.D847N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000301030
Start 89284903:89284903(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1639C>T
AA Mutation p.Arg547Trp(p.R547W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000301030
Start 89284329:89284329(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs370690185
CDS Mutation c.2213G>A
AA Mutation p.Arg738His(p.R738H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000301030
Start 89316964:89316964(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.56G>A
AA Mutation p.Ser19Asn(p.S19N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000301030
Start 89282346:89282346(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs752446167
CDS Mutation c.4196C>T
AA Mutation p.Ala1399Val(p.A1399V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000301030
Start 89268630:89268630(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7840G>A
AA Mutation p.Ala2614Thr(p.A2614T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000301030
Start 89286167:89286167(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.764G>A
AA Mutation p.Arg255Gln(p.R255Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000301030
Start 89279392:89279392(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7150C>T
AA Mutation p.Pro2384Ser(p.P2384S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000301030
Start 89282856:89282856(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs775494693
CDS Mutation c.3686C>T
AA Mutation p.Thr1229Met(p.T1229M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000301030
Start 89283201:89283201(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3341A>G
AA Mutation p.Tyr1114Cys(p.Y1114C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000301030
Start 89280570:89280570(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5972C>A
AA Mutation p.Pro1991Gln(p.P1991Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000301030
Start 89283069:89283069(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3473C>T
AA Mutation p.Ala1158Val(p.A1158V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000301030
Start 89283555:89283555(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2987G>A
AA Mutation p.Gly996Asp(p.G996D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000301030
Start 89281875:89281875(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs781186923
CDS Mutation c.4667C>T
AA Mutation p.Ala1556Val(p.A1556V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000301030
Start 89279619:89279619(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6923G>A
AA Mutation p.Gly2308Asp(p.G2308D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000301030
Start 89283076:89283076(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3466C>T
AA Mutation p.Arg1156Trp(p.R1156W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000301030
Start 89281357:89281357(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs368667754
CDS Mutation c.5185G>A
AA Mutation p.Ala1729Thr(p.A1729T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000301030
Start 89284699:89284699(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs776780527
CDS Mutation c.1843G>A
AA Mutation p.Ala615Thr(p.A615T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000301030
Start 89284468:89284468(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs149939914
CDS Mutation c.2074G>A
AA Mutation p.Asp692Asn(p.D692N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000301030
Start 89288604:89288604(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.668C>T
AA Mutation p.Ala223Val(p.A223V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000301030
Start 89281406:89281406(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5136C>G
AA Mutation p.Cys1712Trp(p.C1712W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000301030
Start 89282234:89282234(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4308A>T
AA Mutation p.Glu1436Asp(p.E1436D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000301030
Start 89282779:89282779(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3763A>G
AA Mutation p.Lys1255Glu(p.K1255E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000301030
Start 89283009:89283009(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3533A>G
AA Mutation p.Asp1178Gly(p.D1178G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000301030
Start 89283341:89283341(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3201A>C
AA Mutation p.Lys1067Asn(p.K1067N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000301030
Start 89283765:89283765(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2777A>C
AA Mutation p.Lys926Thr(p.K926T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000301030
Start 89279388:89279388(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7154G>A
AA Mutation p.Arg2385His(p.R2385H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 40
Mutation Consequence missense_variant
Transcription ID ENST00000301030
Start 89279419:89279419(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7123G>A
AA Mutation p.Glu2375Lys(p.E2375K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 41
Mutation Consequence missense_variant
Transcription ID ENST00000301030
Start 89270888:89270888(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7735C>T
AA Mutation p.Arg2579Cys(p.R2579C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 42
Mutation Consequence missense_variant
Transcription ID ENST00000301030
Start 89281002:89281002(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5540C>T
AA Mutation p.Ser1847Leu(p.S1847L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 43
Mutation Consequence missense_variant
Transcription ID ENST00000301030
Start 89275127:89275127(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7535G>A
AA Mutation p.Arg2512Gln(p.R2512Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 44
Mutation Consequence missense_variant
Transcription ID ENST00000301030
Start 89281636:89281636(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4906G>A
AA Mutation p.Asp1636Asn(p.D1636N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 45
Mutation Consequence synonymous_variant
Transcription ID ENST00000301030
Start 89279123:89279123(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7419G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 46
Mutation Consequence synonymous_variant
Transcription ID ENST00000301030
Start 89288624:89288624(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs376462670
CDS Mutation c.648C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 47
Mutation Consequence synonymous_variant
Transcription ID ENST00000301030
Start 89282006:89282006(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4536C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 48
Mutation Consequence synonymous_variant
Transcription ID ENST00000301030
Start 89290677:89290677(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.549C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 49
Mutation Consequence synonymous_variant
Transcription ID ENST00000301030
Start 89284751:89284751(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1791G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 50
Mutation Consequence synonymous_variant
Transcription ID ENST00000301030
Start 89280305:89280305(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6237G>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 51
Mutation Consequence synonymous_variant
Transcription ID ENST00000301030
Start 89280782:89280782(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5760G>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 52
Mutation Consequence synonymous_variant
Transcription ID ENST00000301030
Start 89279198:89279198(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs773836911
CDS Mutation c.7344C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 53
Mutation Consequence synonymous_variant
Transcription ID ENST00000301030
Start 89282855:89282855(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3687G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 54
Mutation Consequence synonymous_variant
Transcription ID ENST00000301030
Start 89288540:89288540(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs377170434
CDS Mutation c.732C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 55
Mutation Consequence synonymous_variant
Transcription ID ENST00000301030
Start 89288564:89288564(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs756858960
CDS Mutation c.708G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 56
Mutation Consequence synonymous_variant
Transcription ID ENST00000301030
Start 89282243:89282243(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4299C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 57
Mutation Consequence synonymous_variant
Transcription ID ENST00000301030
Start 89281292:89281292(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs202126162
CDS Mutation c.5250C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 58
Mutation Consequence synonymous_variant
Transcription ID ENST00000301030
Start 89280125:89280125(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs755356592
CDS Mutation c.6417G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 59
Mutation Consequence synonymous_variant
Transcription ID ENST00000301030
Start 89281658:89281658(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs144721281
CDS Mutation c.4884C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 60
Mutation Consequence synonymous_variant
Transcription ID ENST00000301030
Start 89283683:89283683(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs771874534
CDS Mutation c.2859C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 61
Mutation Consequence synonymous_variant
Transcription ID ENST00000301030
Start 89279225:89279225(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs761840700
CDS Mutation c.7317C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 62
Mutation Consequence synonymous_variant
Transcription ID ENST00000301030
Start 89268505:89268505(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7965C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 63
Mutation Consequence synonymous_variant
Transcription ID ENST00000301030
Start 89268502:89268502(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs546081499
CDS Mutation c.7968C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 64
Mutation Consequence frameshift_variant
Transcription ID ENST00000301030
Start 89283233:89283233(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.3309delA
AA Mutation p.Asp1104MetfsTer214(p.D1104Mfs*214)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 65
Mutation Consequence frameshift_variant
Transcription ID ENST00000301030
Start 89282948:89282948(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.3594delA
AA Mutation p.Glu1199ArgfsTer119(p.E1199Rfs*119)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 66
Mutation Consequence frameshift_variant
Transcription ID ENST00000301030
Start 89285187:89285187(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.1355delA
AA Mutation p.Asn452IlefsTer3(p.N452Ifs*3)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 67
Mutation Consequence frameshift_variant
Transcription ID ENST00000301030
Start 89283198:89283198(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.3344delT
AA Mutation p.Ile1115ThrfsTer203(p.I1115Tfs*203)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 68
Mutation Consequence stop_gained
Transcription ID ENST00000301030
Start 89282611:89282611(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3931C>T
AA Mutation p.Arg1311Ter(p.R1311*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 69
Mutation Consequence inframe_deletion
Transcription ID ENST00000301030
Start 89283899:89283901(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.2641_2643delGTG
AA Mutation p.Val881del(p.V881del)
Mutation Classification In_Frame_Del
Feature Type Transcript
Mutation ID 70
Mutation Consequence inframe_insertion
Transcription ID ENST00000301030
Start 89282157:89282158(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.4382_4384dupAGA
AA Mutation p.Lys1461dup(p.K1461dup)
Mutation Classification In_Frame_Ins
Feature Type Transcript
Mutation ID 71
Mutation Consequence inframe_insertion
Transcription ID ENST00000301030
Start 89284973:89284974(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.1568_1569insAGT
AA Mutation p.Thr523_Ser524insVal(p.T523_S524insV)
Mutation Classification In_Frame_Ins
Feature Type Transcript

Rectum Cancer: Gene >> ANKRD11

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000301030
Start 89291165:89291165(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs779534634
CDS Mutation c.245G>A
AA Mutation p.Arg82Gln(p.R82Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000301030
Start 89280007:89280007(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6535G>A
AA Mutation p.Val2179Ile(p.V2179I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000301030
Start 89274928:89274928(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7599G>T
AA Mutation p.Glu2533Asp(p.E2533D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000301030
Start 89282197:89282197(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs757947925
CDS Mutation c.4345G>A
AA Mutation p.Gly1449Arg(p.G1449R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000301030
Start 89282365:89282365(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs757166671
CDS Mutation c.4177G>A
AA Mutation p.Glu1393Lys(p.E1393K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000301030
Start 89282360:89282360(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4182G>T
AA Mutation p.Lys1394Asn(p.K1394N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence synonymous_variant
Transcription ID ENST00000301030
Start 89285573:89285573(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs777650901
CDS Mutation c.969C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 8
Mutation Consequence synonymous_variant
Transcription ID ENST00000301030
Start 89281079:89281079(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5463C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 9
Mutation Consequence synonymous_variant
Transcription ID ENST00000301030
Start 89282621:89282621(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3921C>T
Mutation Classification Silent
Feature Type Transcript