Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> GLI3

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41966132:41966132(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs746678996
CDS Mutation c.2941G>A
AA Mutation p.Asp981Asn(p.D981N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41967721:41967721(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs139672999
CDS Mutation c.2306C>T
AA Mutation p.Pro769Leu(p.P769L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 42048595:42048595(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.575C>A
AA Mutation p.Pro192His(p.P192H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41972567:41972567(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs121917712
CDS Mutation c.1873C>T
AA Mutation p.Arg625Trp(p.R625W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41967652:41967652(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs546878700
CDS Mutation c.2375G>A
AA Mutation p.Arg792Gln(p.R792Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41965583:41965583(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3490G>A
AA Mutation p.Glu1164Lys(p.E1164K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41964463:41964463(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs746798261
CDS Mutation c.4610G>A
AA Mutation p.Arg1537His(p.R1537H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41965868:41965868(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3205A>G
AA Mutation p.Ile1069Val(p.I1069V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41966372:41966372(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2701G>T
AA Mutation p.Asp901Tyr(p.D901Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41965478:41965478(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3595G>A
AA Mutation p.Val1199Ile(p.V1199I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41967695:41967695(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371775636
CDS Mutation c.2332G>A
AA Mutation p.Val778Ile(p.V778I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41966083:41966083(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2990C>T
AA Mutation p.Ala997Val(p.A997V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41965940:41965940(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3133G>A
AA Mutation p.Val1045Met(p.V1045M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41972599:41972599(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1841G>T
AA Mutation p.Cys614Phe(p.C614F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 42045416:42045416(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.794C>A
AA Mutation p.Ala265Asp(p.A265D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41965910:41965910(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3163G>A
AA Mutation p.Gly1055Ser(p.G1055S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41966308:41966308(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs773038952
CDS Mutation c.2765C>T
AA Mutation p.Thr922Met(p.T922M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 42148424:42148424(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs775586921
CDS Mutation c.169G>A
AA Mutation p.Ala57Thr(p.A57T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41965529:41965529(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3544C>T
AA Mutation p.Arg1182Trp(p.R1182W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41972384:41972384(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs138199980
CDS Mutation c.2056C>T
AA Mutation p.Arg686Trp(p.R686W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41964449:41964449(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs755022753
CDS Mutation c.4624C>T
AA Mutation p.Arg1542Trp(p.R1542W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 42148274:42148274(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs774858780
CDS Mutation c.319A>G
AA Mutation p.Thr107Ala(p.T107A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41965681:41965681(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs750890276
CDS Mutation c.3392C>T
AA Mutation p.Ala1131Val(p.A1131V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 42048556:42048556(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs749940791
CDS Mutation c.614G>A
AA Mutation p.Arg205His(p.R205H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41965468:41965468(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3605A>C
AA Mutation p.Gln1202Pro(p.Q1202P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41965376:41965376(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3697A>G
AA Mutation p.Asn1233Asp(p.N1233D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 42040131:42040131(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs772929930
CDS Mutation c.935C>T
AA Mutation p.Thr312Met(p.T312M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41964542:41964542(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4531G>T
AA Mutation p.Asp1511Tyr(p.D1511Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41967836:41967836(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2191C>T
AA Mutation p.Pro731Ser(p.P731S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 42023564:42023564(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1401A>C
AA Mutation p.Lys467Asn(p.K467N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 42148304:42148304(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs746891909
CDS Mutation c.289G>A
AA Mutation p.Val97Met(p.V97M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41965972:41965972(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3101C>T
AA Mutation p.Ala1034Val(p.A1034V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 42025275:42025275(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs769783770
CDS Mutation c.1345C>T
AA Mutation p.Arg449Trp(p.R449W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41964865:41964865(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4208C>T
AA Mutation p.Ala1403Val(p.A1403V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41965439:41965439(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3634G>A
AA Mutation p.Gly1212Ser(p.G1212S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41967772:41967772(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2255C>T
AA Mutation p.Ser752Leu(p.S752L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 42026288:42026288(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1153C>A
AA Mutation p.Pro385Thr(p.P385T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41966599:41966599(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2474C>T
AA Mutation p.Thr825Met(p.T825M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 42025334:42025334(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs758757750
CDS Mutation c.1286C>T
AA Mutation p.Pro429Leu(p.P429L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 40
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41966167:41966167(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2906C>G
AA Mutation p.Ala969Gly(p.A969G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 41
Mutation Consequence synonymous_variant
Transcription ID ENST00000395925
Start 41965866:41965866(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3207C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 42
Mutation Consequence synonymous_variant
Transcription ID ENST00000395925
Start 41964681:41964681(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs566409623
CDS Mutation c.4392C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 43
Mutation Consequence synonymous_variant
Transcription ID ENST00000395925
Start 41966316:41966316(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2757C>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 44
Mutation Consequence synonymous_variant
Transcription ID ENST00000395925
Start 41965056:41965056(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs751134295
CDS Mutation c.4017C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 45
Mutation Consequence synonymous_variant
Transcription ID ENST00000395925
Start 42023492:42023492(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs572462647
CDS Mutation c.1473C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 46
Mutation Consequence synonymous_variant
Transcription ID ENST00000395925
Start 42040124:42040124(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.942C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 47
Mutation Consequence synonymous_variant
Transcription ID ENST00000395925
Start 41965308:41965308(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs552476301
CDS Mutation c.3765G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 48
Mutation Consequence synonymous_variant
Transcription ID ENST00000395925
Start 41978707:41978707(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs142888674
CDS Mutation c.1539C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 49
Mutation Consequence synonymous_variant
Transcription ID ENST00000395925
Start 42048690:42048690(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs148660482
CDS Mutation c.480C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 50
Mutation Consequence synonymous_variant
Transcription ID ENST00000395925
Start 41965488:41965488(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs765946554
CDS Mutation c.3585C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 51
Mutation Consequence synonymous_variant
Transcription ID ENST00000395925
Start 41965251:41965251(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3822C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 52
Mutation Consequence synonymous_variant
Transcription ID ENST00000395925
Start 41966616:41966616(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2457C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 53
Mutation Consequence synonymous_variant
Transcription ID ENST00000395925
Start 41966352:41966352(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs749401038
CDS Mutation c.2721C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 54
Mutation Consequence synonymous_variant
Transcription ID ENST00000395925
Start 41965683:41965683(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs756608797
CDS Mutation c.3390C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 55
Mutation Consequence synonymous_variant
Transcription ID ENST00000395925
Start 41964708:41964708(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs755909964
CDS Mutation c.4365G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 56
Mutation Consequence synonymous_variant
Transcription ID ENST00000395925
Start 42026382:42026382(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs759502281
CDS Mutation c.1059G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 57
Mutation Consequence synonymous_variant
Transcription ID ENST00000395925
Start 42148251:42148251(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.342G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 58
Mutation Consequence synonymous_variant
Transcription ID ENST00000395925
Start 41965680:41965680(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3393G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 59
Mutation Consequence synonymous_variant
Transcription ID ENST00000395925
Start 41964465:41964465(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs776279429
CDS Mutation c.4608C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 60
Mutation Consequence synonymous_variant
Transcription ID ENST00000395925
Start 41964555:41964555(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs377186629
CDS Mutation c.4518C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 61
Mutation Consequence synonymous_variant
Transcription ID ENST00000395925
Start 42026406:42026406(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1035C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 62
Mutation Consequence synonymous_variant
Transcription ID ENST00000395925
Start 41965179:41965179(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs530418832
CDS Mutation c.3894G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 63
Mutation Consequence synonymous_variant
Transcription ID ENST00000395925
Start 41966208:41966208(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2865G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 64
Mutation Consequence frameshift_variant
Transcription ID ENST00000395925
Start 41965975:41965975(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.3098delC
AA Mutation p.Pro1033ArgfsTer46(p.P1033Rfs*46)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 65
Mutation Consequence stop_gained
Transcription ID ENST00000395925
Start 42026345:42026345(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1096C>T
AA Mutation p.Arg366Ter(p.R366*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 66
Mutation Consequence stop_gained
Transcription ID ENST00000395925
Start 42148412:42148412(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.181C>T
AA Mutation p.Gln61Ter(p.Q61*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 67
Mutation Consequence stop_gained
Transcription ID ENST00000395925
Start 41972441:41972441(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs781422192
CDS Mutation c.1999C>T
AA Mutation p.Arg667Ter(p.R667*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 68
Mutation Consequence inframe_insertion
Transcription ID ENST00000395925
Start 41964590:41964591(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.4482_4483insATG
AA Mutation p.Leu1494_Asp1495insMet(p.L1494_D1495insM)
Mutation Classification In_Frame_Ins
Feature Type Transcript
Mutation ID 69
Mutation Consequence stop_lost
Transcription ID ENST00000395925
Start 41964332:41964332(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4741T>C
AA Mutation p.Ter1581GlnextTer28(p.*1581Qext*28)
Mutation Classification Nonstop_Mutation
Feature Type Transcript

Rectum Cancer: Gene >> GLI3

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41964427:41964427(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4646C>T
AA Mutation p.Ala1549Val(p.A1549V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41972449:41972449(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs780256503
CDS Mutation c.1991C>T
AA Mutation p.Ser664Leu(p.S664L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 42048670:42048670(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs752525209
CDS Mutation c.500C>T
AA Mutation p.Thr167Met(p.T167M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41964880:41964880(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs749600708
CDS Mutation c.4193C>T
AA Mutation p.Pro1398Leu(p.P1398L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41964762:41964762(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4311G>T
AA Mutation p.Gln1437His(p.Q1437H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41966359:41966359(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2714G>A
AA Mutation p.Arg905His(p.R905H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41965681:41965681(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs750890276
CDS Mutation c.3392C>T
AA Mutation p.Ala1131Val(p.A1131V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41964336:41964336(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4737G>T
AA Mutation p.Met1579Ile(p.M1579I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41966531:41966531(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2542G>A
AA Mutation p.Asp848Asn(p.D848N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41964744:41964744(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4329C>A
AA Mutation p.Phe1443Leu(p.F1443L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41965761:41965761(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3312C>A
AA Mutation p.Asn1104Lys(p.N1104K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41965427:41965427(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs112234184
CDS Mutation c.3646C>A
AA Mutation p.Leu1216Ile(p.L1216I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 42040229:42040229(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.837C>A
AA Mutation p.Phe279Leu(p.F279L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41965583:41965583(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3490G>A
AA Mutation p.Glu1164Lys(p.E1164K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence synonymous_variant
Transcription ID ENST00000395925
Start 41965749:41965749(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3324C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 16
Mutation Consequence synonymous_variant
Transcription ID ENST00000395925
Start 41965677:41965677(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3396C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 17
Mutation Consequence synonymous_variant
Transcription ID ENST00000395925
Start 41977612:41977612(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1758T>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 18
Mutation Consequence synonymous_variant
Transcription ID ENST00000395925
Start 41965188:41965188(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3885C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 19
Mutation Consequence synonymous_variant
Transcription ID ENST00000395925
Start 41978620:41978620(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs779553362
CDS Mutation c.1626C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 20
Mutation Consequence synonymous_variant
Transcription ID ENST00000395925
Start 42023501:42023501(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs777294193
CDS Mutation c.1464G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 21
Mutation Consequence synonymous_variant
Transcription ID ENST00000395925
Start 42023534:42023534(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1431C>T
Mutation Classification Silent
Feature Type Transcript