Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> LAMA5

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000252999
Start 62333155:62333155(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3217C>T
AA Mutation p.Arg1073Trp(p.R1073W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000252999
Start 62327667:62327667(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4800G>T
AA Mutation p.Glu1600Asp(p.E1600D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000252999
Start 62330804:62330804(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs756189022
CDS Mutation c.3791G>A
AA Mutation p.Arg1264Gln(p.R1264Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000252999
Start 62330553:62330553(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3914G>A
AA Mutation p.Gly1305Asp(p.G1305D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000252999
Start 62320812:62320812(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6575T>C
AA Mutation p.Leu2192Pro(p.L2192P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000252999
Start 62332639:62332639(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs142481643
CDS Mutation c.3361C>T
AA Mutation p.Arg1121Cys(p.R1121C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000252999
Start 62352277:62352277(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.652G>A
AA Mutation p.Glu218Lys(p.E218K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000252999
Start 62325504:62325504(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5341G>A
AA Mutation p.Glu1781Lys(p.E1781K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000252999
Start 62346515:62346515(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371375888
CDS Mutation c.1273G>A
AA Mutation p.Val425Ile(p.V425I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000252999
Start 62327945:62327945(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs774677106
CDS Mutation c.4718G>A
AA Mutation p.Arg1573His(p.R1573H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000252999
Start 62310912:62310912(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs767793690
CDS Mutation c.10271G>A
AA Mutation p.Arg3424His(p.R3424H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000252999
Start 62338138:62338138(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1769G>A
AA Mutation p.Ser590Asn(p.S590N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000252999
Start 62309378:62309378(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11046G>T
AA Mutation p.Glu3682Asp(p.E3682D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000252999
Start 62313666:62313666(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8641T>C
AA Mutation p.Tyr2881His(p.Y2881H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000252999
Start 62311005:62311005(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs773233110
CDS Mutation c.10178C>T
AA Mutation p.Ala3393Val(p.A3393V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000252999
Start 62338548:62338548(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs760778437
CDS Mutation c.1538G>A
AA Mutation p.Gly513Glu(p.G513E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000252999
Start 62333963:62333963(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2816C>G
AA Mutation p.Ala939Gly(p.A939G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000252999
Start 62346738:62346738(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200037423
CDS Mutation c.1135G>A
AA Mutation p.Ala379Thr(p.A379T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000252999
Start 62328406:62328406(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4487G>A
AA Mutation p.Gly1496Asp(p.G1496D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000252999
Start 62362525:62362525(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.325G>A
AA Mutation p.Ala109Thr(p.A109T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000252999
Start 62311297:62311297(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9953G>A
AA Mutation p.Arg3318His(p.R3318H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000252999
Start 62346574:62346574(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1214G>T
AA Mutation p.Cys405Phe(p.C405F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000252999
Start 62311713:62311713(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs762372774
CDS Mutation c.9707C>T
AA Mutation p.Pro3236Leu(p.P3236L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000252999
Start 62311405:62311405(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs116253592
CDS Mutation c.9938G>A
AA Mutation p.Arg3313Gln(p.R3313Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000252999
Start 62312211:62312211(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs140550546
CDS Mutation c.9466G>A
AA Mutation p.Ala3156Thr(p.A3156T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000252999
Start 62346744:62346744(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201183803
CDS Mutation c.1129C>T
AA Mutation p.Arg377Cys(p.R377C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000252999
Start 62311409:62311409(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs774270130
CDS Mutation c.9934G>A
AA Mutation p.Ala3312Thr(p.A3312T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000252999
Start 62323597:62323597(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs781064138
CDS Mutation c.5923G>A
AA Mutation p.Gly1975Ser(p.G1975S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000252999
Start 62332407:62332407(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs780809601
CDS Mutation c.3517G>A
AA Mutation p.Val1173Met(p.V1173M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000252999
Start 62313371:62313371(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8748G>T
AA Mutation p.Glu2916Asp(p.E2916D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000252999
Start 62329168:62329168(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4205G>A
AA Mutation p.Ser1402Asn(p.S1402N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000252999
Start 62310490:62310490(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10529T>C
AA Mutation p.Val3510Ala(p.V3510A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000252999
Start 62320840:62320840(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs113149937
CDS Mutation c.6547G>A
AA Mutation p.Ala2183Thr(p.A2183T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000252999
Start 62316956:62316956(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs756250563
CDS Mutation c.7579C>T
AA Mutation p.Arg2527Cys(p.R2527C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000252999
Start 62335120:62335120(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs144033127
CDS Mutation c.2383G>A
AA Mutation p.Gly795Ser(p.G795S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000252999
Start 62318470:62318470(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs575134003
CDS Mutation c.7223G>A
AA Mutation p.Arg2408His(p.R2408H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000252999
Start 62338593:62338593(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs139957521
CDS Mutation c.1493C>T
AA Mutation p.Ala498Val(p.A498V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000252999
Start 62338285:62338285(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1703G>T
AA Mutation p.Gly568Val(p.G568V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 39
Mutation Consequence synonymous_variant
Transcription ID ENST00000252999
Start 62346097:62346097(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1401C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 40
Mutation Consequence synonymous_variant
Transcription ID ENST00000252999
Start 62313407:62313407(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs148440509
CDS Mutation c.8712G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 41
Mutation Consequence synonymous_variant
Transcription ID ENST00000252999
Start 62317701:62317701(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs776997265
CDS Mutation c.7317C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 42
Mutation Consequence synonymous_variant
Transcription ID ENST00000252999
Start 62337892:62337892(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs766890003
CDS Mutation c.1938G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 43
Mutation Consequence synonymous_variant
Transcription ID ENST00000252999
Start 62313217:62313217(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8826C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 44
Mutation Consequence synonymous_variant
Transcription ID ENST00000252999
Start 62312179:62312179(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs776827129
CDS Mutation c.9498G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 45
Mutation Consequence synonymous_variant
Transcription ID ENST00000252999
Start 62326919:62326919(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs141040193
CDS Mutation c.5160C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 46
Mutation Consequence synonymous_variant
Transcription ID ENST00000252999
Start 62326695:62326695(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs375470566
CDS Mutation c.5280G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 47
Mutation Consequence synonymous_variant
Transcription ID ENST00000252999
Start 62322423:62322423(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371857115
CDS Mutation c.6192C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 48
Mutation Consequence synonymous_variant
Transcription ID ENST00000252999
Start 62310737:62310737(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10374G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 49
Mutation Consequence synonymous_variant
Transcription ID ENST00000252999
Start 62347010:62347010(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.975G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 50
Mutation Consequence synonymous_variant
Transcription ID ENST00000252999
Start 62312230:62312230(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs143973406
CDS Mutation c.9447C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 51
Mutation Consequence synonymous_variant
Transcription ID ENST00000252999
Start 62333989:62333989(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs765293167
CDS Mutation c.2790C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 52
Mutation Consequence synonymous_variant
Transcription ID ENST00000252999
Start 62331052:62331052(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs765106926
CDS Mutation c.3630C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 53
Mutation Consequence synonymous_variant
Transcription ID ENST00000252999
Start 62309462:62309462(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10962G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 54
Mutation Consequence synonymous_variant
Transcription ID ENST00000252999
Start 62351993:62351993(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.774C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 55
Mutation Consequence synonymous_variant
Transcription ID ENST00000252999
Start 62333449:62333449(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3054C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 56
Mutation Consequence synonymous_variant
Transcription ID ENST00000252999
Start 62310785:62310785(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs376089471
CDS Mutation c.10326C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 57
Mutation Consequence synonymous_variant
Transcription ID ENST00000252999
Start 62328992:62328992(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs576766054
CDS Mutation c.4299C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 58
Mutation Consequence synonymous_variant
Transcription ID ENST00000252999
Start 62312239:62312239(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs372810461
CDS Mutation c.9438C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 59
Mutation Consequence synonymous_variant
Transcription ID ENST00000252999
Start 62346558:62346558(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs754366924
CDS Mutation c.1230C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 60
Mutation Consequence synonymous_variant
Transcription ID ENST00000252999
Start 62310187:62310187(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs768417939
CDS Mutation c.10725C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 61
Mutation Consequence synonymous_variant
Transcription ID ENST00000252999
Start 62322393:62322393(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs759988560
CDS Mutation c.6222G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 62
Mutation Consequence synonymous_variant
Transcription ID ENST00000252999
Start 62316978:62316978(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs768122218
CDS Mutation c.7557C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 63
Mutation Consequence synonymous_variant
Transcription ID ENST00000252999
Start 62333467:62333467(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3036G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 64
Mutation Consequence synonymous_variant
Transcription ID ENST00000252999
Start 62319757:62319757(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs140336045
CDS Mutation c.6798C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 65
Mutation Consequence synonymous_variant
Transcription ID ENST00000252999
Start 62334318:62334318(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs752471451
CDS Mutation c.2607G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 66
Mutation Consequence frameshift_variant
Transcription ID ENST00000252999
Start 62311700:62311700(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.9720delG
AA Mutation p.Pro3242ArgfsTer47(p.P3242Rfs*47)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 67
Mutation Consequence frameshift_variant
Transcription ID ENST00000252999
Start 62327946:62327946(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4717delC
AA Mutation p.Arg1573AlafsTer84(p.R1573Afs*84)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 68
Mutation Consequence frameshift_variant
Transcription ID ENST00000252999
Start 62310736:62310736(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.10375delG
AA Mutation p.Ala3459GlnfsTer25(p.A3459Qfs*25)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 69
Mutation Consequence frameshift_variant
Transcription ID ENST00000252999
Start 62328329:62328329(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4564delC
AA Mutation p.Leu1522TrpfsTer35(p.L1522Wfs*35)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 70
Mutation Consequence frameshift_variant
Transcription ID ENST00000252999
Start 62322110:62322111(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.6404dupC
AA Mutation p.Leu2137AlafsTer29(p.L2137Afs*29)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript

Rectum Cancer: Gene >> LAMA5

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000252999
Start 62351732:62351732(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs370325282
CDS Mutation c.928G>A
AA Mutation p.Asp310Asn(p.D310N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000252999
Start 62312963:62312963(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9003G>T
AA Mutation p.Leu3001Phe(p.L3001F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000252999
Start 62320849:62320849(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs199798998
CDS Mutation c.6538C>T
AA Mutation p.Arg2180Trp(p.R2180W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000252999
Start 62313777:62313777(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs760179827
CDS Mutation c.8530G>A
AA Mutation p.Val2844Ile(p.V2844I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000252999
Start 62334325:62334325(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2600A>T
AA Mutation p.Tyr867Phe(p.Y867F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000252999
Start 62309812:62309812(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs764941172
CDS Mutation c.10852C>T
AA Mutation p.Arg3618Trp(p.R3618W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000252999
Start 62338497:62338497(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs149415741
CDS Mutation c.1589C>T
AA Mutation p.Ala530Val(p.A530V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000252999
Start 62335096:62335096(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs202214661
CDS Mutation c.2407G>A
AA Mutation p.Val803Met(p.V803M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000252999
Start 62314352:62314352(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8456G>A
AA Mutation p.Ser2819Asn(p.S2819N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000252999
Start 62313002:62313002(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8964C>A
AA Mutation p.Phe2988Leu(p.F2988L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence synonymous_variant
Transcription ID ENST00000252999
Start 62319751:62319751(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs774812139
CDS Mutation c.6804C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 12
Mutation Consequence synonymous_variant
Transcription ID ENST00000252999
Start 62352248:62352248(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.681C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 13
Mutation Consequence synonymous_variant
Transcription ID ENST00000252999
Start 62327383:62327383(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4962G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 14
Mutation Consequence synonymous_variant
Transcription ID ENST00000252999
Start 62331040:62331040(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3642C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 15
Mutation Consequence synonymous_variant
Transcription ID ENST00000252999
Start 62334231:62334231(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs144665788
CDS Mutation c.2694C>T
Mutation Classification Silent
Feature Type Transcript