Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> PTPRT

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000373187
Start 42106832:42106832(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3344G>A
AA Mutation p.Cys1115Tyr(p.C1115Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000373187
Start 42199246:42199246(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201911869
CDS Mutation c.2485G>A
AA Mutation p.Gly829Arg(p.G829R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000373187
Start 42756537:42756537(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201332786
CDS Mutation c.784G>A
AA Mutation p.Val262Ile(p.V262I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000373187
Start 42084767:42084767(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs768298187
CDS Mutation c.4051C>T
AA Mutation p.Arg1351Cys(p.R1351C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000373187
Start 42315946:42315946(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1916C>A
AA Mutation p.Ala639Glu(p.A639E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000373187
Start 42104618:42104618(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3491G>A
AA Mutation p.Ser1164Asn(p.S1164N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000373187
Start 42161528:42161528(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs745346735
CDS Mutation c.2506G>A
AA Mutation p.Gly836Arg(p.G836R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000373187
Start 42678037:42678037(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs724159835
CDS Mutation c.982C>T
AA Mutation p.Arg328Cys(p.R328C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000373187
Start 42141935:42141935(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2750G>T
AA Mutation p.Arg917Leu(p.R917L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000373187
Start 42472530:42472530(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs41279256
CDS Mutation c.1186G>A
AA Mutation p.Val396Ile(p.V396I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000373187
Start 42106827:42106827(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs776642212
CDS Mutation c.3349C>T
AA Mutation p.Arg1117Cys(p.R1117C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000373187
Start 42082014:42082014(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4140T>G
AA Mutation p.Asn1380Lys(p.N1380K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000373187
Start 42119953:42119953(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2866C>T
AA Mutation p.His956Tyr(p.H956Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000373187
Start 42791311:42791311(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.370G>A
AA Mutation p.Val124Met(p.V124M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000373187
Start 42199264:42199264(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2467A>G
AA Mutation p.Ser823Gly(p.S823G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000373187
Start 42199297:42199297(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2434A>T
AA Mutation p.Ser812Cys(p.S812C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000373187
Start 42472446:42472446(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs776769442
CDS Mutation c.1270G>A
AA Mutation p.Val424Met(p.V424M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000373187
Start 42085775:42085775(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs765339833
CDS Mutation c.3925G>A
AA Mutation p.Asp1309Asn(p.D1309N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000373187
Start 42248804:42248804(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2195C>A
AA Mutation p.Ser732Tyr(p.S732Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000373187
Start 42199288:42199288(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs773152433
CDS Mutation c.2443C>T
AA Mutation p.Arg815Cys(p.R815C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000373187
Start 42771442:42771442(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.677G>T
AA Mutation p.Trp226Leu(p.W226L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000373187
Start 42472559:42472559(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs368237025
CDS Mutation c.1157C>T
AA Mutation p.Pro386Leu(p.P386L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000373187
Start 42771529:42771529(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.590G>A
AA Mutation p.Arg197Gln(p.R197Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000373187
Start 42102224:42102224(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3614A>G
AA Mutation p.Lys1205Arg(p.K1205R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000373187
Start 42084781:42084781(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs199947379
CDS Mutation c.4037C>T
AA Mutation p.Thr1346Met(p.T1346M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000373187
Start 42102188:42102188(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3650G>A
AA Mutation p.Cys1217Tyr(p.C1217Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000373187
Start 42472343:42472343(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1373T>C
AA Mutation p.Ile458Thr(p.I458T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000373187
Start 42104610:42104610(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3499G>A
AA Mutation p.Asp1167Asn(p.D1167N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000373187
Start 42110391:42110391(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3196G>A
AA Mutation p.Val1066Ile(p.V1066I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000373187
Start 42248688:42248688(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2311A>G
AA Mutation p.Arg771Gly(p.R771G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000373187
Start 42098471:42098471(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs779663880
CDS Mutation c.3796G>A
AA Mutation p.Asp1266Asn(p.D1266N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000373187
Start 42081913:42081913(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs778726076
CDS Mutation c.4241G>A
AA Mutation p.Arg1414His(p.R1414H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000373187
Start 42472296:42472296(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs757806313
CDS Mutation c.1420G>A
AA Mutation p.Glu474Lys(p.E474K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000373187
Start 42780251:42780251(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs547641233
CDS Mutation c.535G>A
AA Mutation p.Val179Met(p.V179M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000373187
Start 42791346:42791346(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs372989163
CDS Mutation c.335G>A
AA Mutation p.Arg112His(p.R112H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000373187
Start 42119956:42119956(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs754546663
CDS Mutation c.2863C>T
AA Mutation p.Arg955Trp(p.R955W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000373187
Start 42081926:42081926(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs760820896
CDS Mutation c.4228G>A
AA Mutation p.Val1410Met(p.V1410M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000373187
Start 42315802:42315802(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2060A>G
AA Mutation p.Tyr687Cys(p.Y687C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000373187
Start 42780277:42780277(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.509T>G
AA Mutation p.Leu170Trp(p.L170W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 40
Mutation Consequence missense_variant
Transcription ID ENST00000373187
Start 42102209:42102209(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3629A>G
AA Mutation p.Asp1210Gly(p.D1210G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 41
Mutation Consequence synonymous_variant
Transcription ID ENST00000373187
Start 42472285:42472285(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1431G>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 42
Mutation Consequence synonymous_variant
Transcription ID ENST00000373187
Start 42472447:42472447(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs765303743
CDS Mutation c.1269C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 43
Mutation Consequence synonymous_variant
Transcription ID ENST00000373187
Start 42677963:42677963(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs190523853
CDS Mutation c.1056C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 44
Mutation Consequence synonymous_variant
Transcription ID ENST00000373187
Start 42102274:42102274(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3564T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 45
Mutation Consequence synonymous_variant
Transcription ID ENST00000373187
Start 42102142:42102142(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3696C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 46
Mutation Consequence synonymous_variant
Transcription ID ENST00000373187
Start 42677891:42677891(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1128C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 47
Mutation Consequence synonymous_variant
Transcription ID ENST00000373187
Start 42350711:42350711(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs377291418
CDS Mutation c.1782C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 48
Mutation Consequence synonymous_variant
Transcription ID ENST00000373187
Start 42472477:42472477(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200094311
CDS Mutation c.1239G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 49
Mutation Consequence synonymous_variant
Transcription ID ENST00000373187
Start 42315777:42315777(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2085C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 50
Mutation Consequence synonymous_variant
Transcription ID ENST00000373187
Start 42248710:42248710(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs373446898
CDS Mutation c.2289C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 51
Mutation Consequence synonymous_variant
Transcription ID ENST00000373187
Start 42085791:42085791(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs34623060
CDS Mutation c.3909C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 52
Mutation Consequence synonymous_variant
Transcription ID ENST00000373187
Start 42678059:42678059(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.960C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 53
Mutation Consequence synonymous_variant
Transcription ID ENST00000373187
Start 42677999:42677999(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs765941600
CDS Mutation c.1020C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 54
Mutation Consequence synonymous_variant
Transcription ID ENST00000373187
Start 42350645:42350645(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1848C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 55
Mutation Consequence synonymous_variant
Transcription ID ENST00000373187
Start 42472480:42472480(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs376152261
CDS Mutation c.1236C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 56
Mutation Consequence synonymous_variant
Transcription ID ENST00000373187
Start 42885850:42885850(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.171T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 57
Mutation Consequence synonymous_variant
Transcription ID ENST00000373187
Start 42791462:42791462(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.219T>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 58
Mutation Consequence synonymous_variant
Transcription ID ENST00000373187
Start 42084714:42084714(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs370589712
CDS Mutation c.4104C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 59
Mutation Consequence synonymous_variant
Transcription ID ENST00000373187
Start 42756474:42756474(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.847C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 60
Mutation Consequence synonymous_variant
Transcription ID ENST00000373187
Start 42791312:42791312(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs571326580
CDS Mutation c.369C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 61
Mutation Consequence synonymous_variant
Transcription ID ENST00000373187
Start 42315915:42315915(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs770357636
CDS Mutation c.1947C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 62
Mutation Consequence synonymous_variant
Transcription ID ENST00000373187
Start 42352190:42352190(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371999348
CDS Mutation c.1656C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 63
Mutation Consequence frameshift_variant
Transcription ID ENST00000373187
Start 42110363:42110363(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.3224delC
AA Mutation p.Pro1075ArgfsTer6(p.P1075Rfs*6)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 64
Mutation Consequence frameshift_variant
Transcription ID ENST00000373187
Start 42084774:42084774(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4044delC
AA Mutation p.Ser1349ProfsTer31(p.S1349Pfs*31)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 65
Mutation Consequence stop_gained
Transcription ID ENST00000373187
Start 42102219:42102219(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3619C>T
AA Mutation p.Arg1207Ter(p.R1207*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 66
Mutation Consequence stop_gained
Transcription ID ENST00000373187
Start 42677944:42677944(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1075C>T
AA Mutation p.Arg359Ter(p.R359*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 67
Mutation Consequence stop_gained
Transcription ID ENST00000373187
Start 42315801:42315801(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2061C>A
AA Mutation p.Tyr687Ter(p.Y687*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 68
Mutation Consequence stop_gained
Transcription ID ENST00000373187
Start 42678101:42678101(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.918G>A
AA Mutation p.Trp306Ter(p.W306*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 69
Mutation Consequence stop_gained
Transcription ID ENST00000373187
Start 42102159:42102159(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3679G>T
AA Mutation p.Glu1227Ter(p.E1227*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 70
Mutation Consequence stop_gained;frameshift_variant
Transcription ID ENST00000373187
Start 42780279:42780280(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.506_507insTGAATGA
AA Mutation p.Leu170GlufsTer2(p.L170Efs*2)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 71
Mutation Consequence inframe_deletion
Transcription ID ENST00000373187
Start 42199367:42199369(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.2362_2364delAAG
AA Mutation p.Lys788del(p.K788del)
Mutation Classification In_Frame_Del
Feature Type Transcript

Rectum Cancer: Gene >> PTPRT

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000373187
Start 42448230:42448230(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs751972373
CDS Mutation c.1550C>T
AA Mutation p.Thr517Met(p.T517M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000373187
Start 42791299:42791299(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.382G>A
AA Mutation p.Gly128Ser(p.G128S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000373187
Start 42472495:42472495(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1221G>T
AA Mutation p.Trp407Cys(p.W407C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000373187
Start 42352185:42352185(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1661T>A
AA Mutation p.Val554Glu(p.V554E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000373187
Start 42780283:42780283(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.503T>A
AA Mutation p.Val168Asp(p.V168D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000373187
Start 42098437:42098437(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3830A>G
AA Mutation p.Glu1277Gly(p.E1277G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000373187
Start 42199269:42199269(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs778174338
CDS Mutation c.2462C>T
AA Mutation p.Ser821Phe(p.S821F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000373187
Start 42472325:42472325(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1391T>A
AA Mutation p.Leu464Gln(p.L464Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence synonymous_variant
Transcription ID ENST00000373187
Start 42098472:42098472(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs376065743
CDS Mutation c.3795C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 10
Mutation Consequence synonymous_variant
Transcription ID ENST00000373187
Start 42199295:42199295(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs145661499
CDS Mutation c.2436C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 11
Mutation Consequence synonymous_variant
Transcription ID ENST00000373187
Start 42102133:42102133(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3705A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 12
Mutation Consequence synonymous_variant
Transcription ID ENST00000373187
Start 42677990:42677990(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1029C>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 13
Mutation Consequence synonymous_variant
Transcription ID ENST00000373187
Start 42791390:42791390(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.291G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 14
Mutation Consequence frameshift_variant
Transcription ID ENST00000373187
Start 42791290:42791290(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.391delC
AA Mutation p.Gln131LysfsTer17(p.Q131Kfs*17)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 15
Mutation Consequence stop_gained
Transcription ID ENST00000373187
Start 42102219:42102219(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3619C>T
AA Mutation p.Arg1207Ter(p.R1207*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence splice_donor_variant
Transcription ID ENST00000373187
Start 42119934:42119934(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2884+1G>T
Mutation Classification Splice_Site
Feature Type Transcript