Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> PDZD2

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000438447
Start 32048586:32048586(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1567G>T
AA Mutation p.Val523Leu(p.V523L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000438447
Start 32087434:32087434(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3986G>A
AA Mutation p.Gly1329Glu(p.G1329E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000438447
Start 32089875:32089875(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6427C>A
AA Mutation p.His2143Asn(p.H2143N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000438447
Start 32093008:32093008(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs372031921
CDS Mutation c.7829C>T
AA Mutation p.Ala2610Val(p.A2610V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000438447
Start 32090458:32090458(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7010A>G
AA Mutation p.Gln2337Arg(p.Q2337R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000438447
Start 31799718:31799718(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.470G>T
AA Mutation p.Gly157Val(p.G157V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000438447
Start 32074504:32074504(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3398C>G
AA Mutation p.Ala1133Gly(p.A1133G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000438447
Start 32088612:32088612(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5164C>T
AA Mutation p.Pro1722Ser(p.P1722S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000438447
Start 32089743:32089743(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6295G>T
AA Mutation p.Ala2099Ser(p.A2099S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000438447
Start 32057657:32057657(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1903G>A
AA Mutation p.Asp635Asn(p.D635N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000438447
Start 32074113:32074113(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs771893787
CDS Mutation c.3007C>T
AA Mutation p.Arg1003Cys(p.R1003C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000438447
Start 32048656:32048656(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1637A>G
AA Mutation p.Gln546Arg(p.Q546R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000438447
Start 32074048:32074048(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2942A>G
AA Mutation p.Asp981Gly(p.D981G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000438447
Start 32037264:32037264(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs529949435
CDS Mutation c.1441G>A
AA Mutation p.Gly481Ser(p.G481S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000438447
Start 32073978:32073978(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2872C>T
AA Mutation p.Arg958Cys(p.R958C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000438447
Start 32090652:32090652(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7204G>A
AA Mutation p.Glu2402Lys(p.E2402K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000438447
Start 32072261:32072261(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2669A>G
AA Mutation p.His890Arg(p.H890R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000438447
Start 32088666:32088666(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5218G>C
AA Mutation p.Asp1740His(p.D1740H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000438447
Start 32074114:32074114(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs753028675
CDS Mutation c.3008G>A
AA Mutation p.Arg1003His(p.R1003H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000438447
Start 31995589:31995589(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200521349
CDS Mutation c.992G>A
AA Mutation p.Arg331Gln(p.R331Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000438447
Start 32087338:32087338(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3890C>T
AA Mutation p.Ala1297Val(p.A1297V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000438447
Start 32088981:32088981(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs748596911
CDS Mutation c.5533G>A
AA Mutation p.Val1845Ile(p.V1845I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000438447
Start 32058002:32058002(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2099G>A
AA Mutation p.Gly700Glu(p.G700E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000438447
Start 32088714:32088714(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs775958096
CDS Mutation c.5266A>G
AA Mutation p.Ser1756Gly(p.S1756G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000438447
Start 32088381:32088381(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4933C>T
AA Mutation p.Pro1645Ser(p.P1645S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000438447
Start 32074315:32074315(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3209C>A
AA Mutation p.Pro1070His(p.P1070H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000438447
Start 31983637:31983637(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.959C>T
AA Mutation p.Ser320Leu(p.S320L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000438447
Start 32048589:32048589(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs367975237
CDS Mutation c.1570C>T
AA Mutation p.Arg524Trp(p.R524W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000438447
Start 32074574:32074574(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3468C>A
AA Mutation p.Asp1156Glu(p.D1156E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000438447
Start 31983567:31983567(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.889A>G
AA Mutation p.Thr297Ala(p.T297A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000438447
Start 31799595:31799595(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.347T>C
AA Mutation p.Val116Ala(p.V116A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000438447
Start 32089209:32089209(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5761C>A
AA Mutation p.Gln1921Lys(p.Q1921K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence synonymous_variant
Transcription ID ENST00000438447
Start 32057907:32057907(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs749030848
CDS Mutation c.2004G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 34
Mutation Consequence synonymous_variant
Transcription ID ENST00000438447
Start 32090003:32090003(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6555G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 35
Mutation Consequence synonymous_variant
Transcription ID ENST00000438447
Start 32072265:32072265(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs144560810
CDS Mutation c.2673G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 36
Mutation Consequence synonymous_variant
Transcription ID ENST00000438447
Start 32074199:32074199(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3093G>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 37
Mutation Consequence synonymous_variant
Transcription ID ENST00000438447
Start 32074001:32074001(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371895164
CDS Mutation c.2895C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 38
Mutation Consequence synonymous_variant
Transcription ID ENST00000438447
Start 32087858:32087858(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4410C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 39
Mutation Consequence synonymous_variant
Transcription ID ENST00000438447
Start 32074112:32074112(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3006G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 40
Mutation Consequence synonymous_variant
Transcription ID ENST00000438447
Start 32090294:32090294(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6846G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 41
Mutation Consequence synonymous_variant
Transcription ID ENST00000438447
Start 31799338:31799338(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs754925425
CDS Mutation c.90G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 42
Mutation Consequence synonymous_variant
Transcription ID ENST00000438447
Start 32010392:32010392(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1317G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 43
Mutation Consequence synonymous_variant
Transcription ID ENST00000438447
Start 32098435:32098435(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8019A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 44
Mutation Consequence synonymous_variant
Transcription ID ENST00000438447
Start 32087882:32087882(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4434C>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 45
Mutation Consequence synonymous_variant
Transcription ID ENST00000438447
Start 32089949:32089949(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6501G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 46
Mutation Consequence synonymous_variant
Transcription ID ENST00000438447
Start 31799602:31799602(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.354C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 47
Mutation Consequence synonymous_variant
Transcription ID ENST00000438447
Start 32087258:32087258(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3810G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 48
Mutation Consequence synonymous_variant
Transcription ID ENST00000438447
Start 32089181:32089181(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs760808418
CDS Mutation c.5733G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 49
Mutation Consequence synonymous_variant
Transcription ID ENST00000438447
Start 32088284:32088284(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs762774846
CDS Mutation c.4836G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 50
Mutation Consequence frameshift_variant
Transcription ID ENST00000438447
Start 32088970:32088970(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.5528delA
AA Mutation p.Lys1843ArgfsTer31(p.K1843Rfs*31)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 51
Mutation Consequence frameshift_variant
Transcription ID ENST00000438447
Start 32052720:32052720(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1779delA
AA Mutation p.Gly594AlafsTer45(p.G594Afs*45)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 52
Mutation Consequence frameshift_variant
Transcription ID ENST00000438447
Start 32097314:32097314(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.7884delA
AA Mutation p.Glu2629LysfsTer37(p.E2629Kfs*37)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 53
Mutation Consequence frameshift_variant
Transcription ID ENST00000438447
Start 32074423:32074423(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.3322delC
AA Mutation p.Gln1108SerfsTer17(p.Q1108Sfs*17)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 54
Mutation Consequence stop_gained
Transcription ID ENST00000438447
Start 32088502:32088502(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5054C>A
AA Mutation p.Ser1685Ter(p.S1685*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 55
Mutation Consequence stop_gained
Transcription ID ENST00000438447
Start 31983300:31983300(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.622C>T
AA Mutation p.Arg208Ter(p.R208*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 56
Mutation Consequence stop_gained
Transcription ID ENST00000438447
Start 32090397:32090397(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs751729452
CDS Mutation c.6949C>T
AA Mutation p.Arg2317Ter(p.R2317*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 57
Mutation Consequence stop_gained
Transcription ID ENST00000438447
Start 32073998:32073998(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2892C>A
AA Mutation p.Cys964Ter(p.C964*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 58
Mutation Consequence stop_gained;frameshift_variant
Transcription ID ENST00000438447
Start 32101191:32101192(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.8305_8306insGA
AA Mutation p.Ser2769Ter(p.S2769*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 59
Mutation Consequence frameshift_variant
Transcription ID ENST00000438447
Start 32088969:32088970(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.5528dupA
AA Mutation p.Val1845ArgfsTer6(p.V1845Rfs*6)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 60
Mutation Consequence frameshift_variant
Transcription ID ENST00000438447
Start 31799549:31799550(version: GRCh38)
Mutation Type INS
dbSNP_RS rs763648903
CDS Mutation c.308dupG
AA Mutation p.Lys104GlnfsTer38(p.K104Qfs*38)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 61
Mutation Consequence frameshift_variant
Transcription ID ENST00000438447
Start 32101201:32101202(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.8318dupG
AA Mutation p.Asp2774ArgfsTer7(p.D2774Rfs*7)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 62
Mutation Consequence frameshift_variant
Transcription ID ENST00000438447
Start 32101193:32101194(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.8307_8308insGGGT
AA Mutation p.Ser2770GlyfsTer12(p.S2770Gfs*12)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript

Rectum Cancer: Gene >> PDZD2

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000438447
Start 32073880:32073880(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2774G>T
AA Mutation p.Gly925Val(p.G925V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000438447
Start 32058079:32058079(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs140771130
CDS Mutation c.2176G>A
AA Mutation p.Val726Ile(p.V726I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000438447
Start 32052692:32052692(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs749478209
CDS Mutation c.1747G>A
AA Mutation p.Val583Ile(p.V583I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000438447
Start 32074006:32074006(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2900C>T
AA Mutation p.Ala967Val(p.A967V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000438447
Start 32052658:32052658(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1713G>T
AA Mutation p.Gln571His(p.Q571H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000438447
Start 32058016:32058016(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2113G>T
AA Mutation p.Gly705Cys(p.G705C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000438447
Start 32061117:32061117(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2434C>T
AA Mutation p.Arg812Trp(p.R812W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000438447
Start 32048550:32048550(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1531C>T
AA Mutation p.Arg511Cys(p.R511C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000438447
Start 32089378:32089378(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200449834
CDS Mutation c.5930C>T
AA Mutation p.Thr1977Met(p.T1977M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000438447
Start 31799619:31799619(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.371T>C
AA Mutation p.Leu124Pro(p.L124P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000438447
Start 31983307:31983307(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs749035781
CDS Mutation c.629C>T
AA Mutation p.Ala210Val(p.A210V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000438447
Start 32061102:32061102(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs752110304
CDS Mutation c.2419C>T
AA Mutation p.Arg807Cys(p.R807C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000438447
Start 32088823:32088823(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5375T>C
AA Mutation p.Met1792Thr(p.M1792T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000438447
Start 31799532:31799532(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.284A>G
AA Mutation p.Asp95Gly(p.D95G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000438447
Start 32087599:32087599(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4151C>A
AA Mutation p.Ser1384Tyr(p.S1384Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence synonymous_variant
Transcription ID ENST00000438447
Start 32069592:32069592(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2475A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 17
Mutation Consequence synonymous_variant
Transcription ID ENST00000438447
Start 32074616:32074616(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3510C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 18
Mutation Consequence synonymous_variant
Transcription ID ENST00000438447
Start 32088827:32088827(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5379C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 19
Mutation Consequence synonymous_variant
Transcription ID ENST00000438447
Start 32090876:32090876(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7428C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 20
Mutation Consequence frameshift_variant
Transcription ID ENST00000438447
Start 32089618:32089618(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.6170delT
AA Mutation p.Leu2057ArgfsTer22(p.L2057Rfs*22)
Mutation Classification Frame_Shift_Del
Feature Type Transcript