Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> COL27A1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000356083
Start 114168052:114168052(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs770533328
CDS Mutation c.497G>A
AA Mutation p.Arg166His(p.R166H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000356083
Start 114275661:114275661(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3610G>A
AA Mutation p.Gly1204Arg(p.G1204R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000356083
Start 114309448:114309448(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5406C>A
AA Mutation p.Phe1802Leu(p.F1802L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000356083
Start 114309449:114309449(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs145268367
CDS Mutation c.5407C>T
AA Mutation p.Arg1803Trp(p.R1803W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000356083
Start 114309401:114309401(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201559884
CDS Mutation c.5359C>T
AA Mutation p.Arg1787Cys(p.R1787C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000356083
Start 114290248:114290248(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200170613
CDS Mutation c.4285C>T
AA Mutation p.Arg1429Trp(p.R1429W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000356083
Start 114169435:114169435(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs562577846
CDS Mutation c.1880C>T
AA Mutation p.Pro627Leu(p.P627L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000356083
Start 114168711:114168711(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1156C>A
AA Mutation p.His386Asn(p.H386N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000356083
Start 114267532:114267532(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs753609873
CDS Mutation c.3476G>A
AA Mutation p.Gly1159Asp(p.G1159D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000356083
Start 114169427:114169427(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1872G>T
AA Mutation p.Met624Ile(p.M624I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000356083
Start 114237698:114237698(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2710G>A
AA Mutation p.Gly904Arg(p.G904R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000356083
Start 114243555:114243555(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs143200559
CDS Mutation c.2929G>A
AA Mutation p.Val977Met(p.V977M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000356083
Start 114194441:114194441(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2054C>T
AA Mutation p.Ala685Val(p.A685V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000356083
Start 114237713:114237713(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2725G>A
AA Mutation p.Glu909Lys(p.E909K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000356083
Start 114288726:114288726(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs745478632
CDS Mutation c.4069C>T
AA Mutation p.Arg1357Cys(p.R1357C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000356083
Start 114209702:114209702(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs752172699
CDS Mutation c.2296G>A
AA Mutation p.Gly766Ser(p.G766S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000356083
Start 114270754:114270754(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3582T>A
AA Mutation p.Ser1194Arg(p.S1194R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000356083
Start 114245891:114245891(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs138913107
CDS Mutation c.2960C>T
AA Mutation p.Pro987Leu(p.P987L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000356083
Start 114290098:114290098(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200663129
CDS Mutation c.4247G>A
AA Mutation p.Arg1416Gln(p.R1416Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000356083
Start 114292137:114292137(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4511C>A
AA Mutation p.Pro1504His(p.P1504H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000356083
Start 114168979:114168979(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs144241003
CDS Mutation c.1424G>A
AA Mutation p.Arg475His(p.R475H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000356083
Start 114264955:114264955(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs140192759
CDS Mutation c.3281G>A
AA Mutation p.Arg1094Gln(p.R1094Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000356083
Start 114309356:114309356(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs532724249
CDS Mutation c.5314G>A
AA Mutation p.Val1772Met(p.V1772M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000356083
Start 114282496:114282496(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs558210767
CDS Mutation c.3811G>A
AA Mutation p.Val1271Ile(p.V1271I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000356083
Start 114235651:114235651(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2618A>G
AA Mutation p.Lys873Arg(p.K873R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000356083
Start 114231087:114231087(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2475A>C
AA Mutation p.Leu825Phe(p.L825F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000356083
Start 114167839:114167839(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.284G>A
AA Mutation p.Gly95Asp(p.G95D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000356083
Start 114168601:114168601(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1046G>A
AA Mutation p.Arg349His(p.R349H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000356083
Start 114237008:114237008(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2647G>A
AA Mutation p.Gly883Ser(p.G883S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000356083
Start 114168365:114168365(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.810G>T
AA Mutation p.Glu270Asp(p.E270D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000356083
Start 114169362:114169362(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs774381208
CDS Mutation c.1807C>T
AA Mutation p.Arg603Trp(p.R603W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000356083
Start 114167901:114167901(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs771010276
CDS Mutation c.346G>A
AA Mutation p.Ala116Thr(p.A116T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000356083
Start 114283745:114283745(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3916G>A
AA Mutation p.Gly1306Arg(p.G1306R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000356083
Start 114194456:114194456(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2069A>C
AA Mutation p.Lys690Thr(p.K690T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000356083
Start 114290825:114290825(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4384G>A
AA Mutation p.Asp1462Asn(p.D1462N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000356083
Start 114167791:114167791(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs769153208
CDS Mutation c.236G>A
AA Mutation p.Arg79Gln(p.R79Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000356083
Start 114195975:114195975(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2087C>A
AA Mutation p.Pro696His(p.P696H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000356083
Start 114245869:114245869(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2938G>A
AA Mutation p.Glu980Lys(p.E980K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 39
Mutation Consequence synonymous_variant
Transcription ID ENST00000356083
Start 114231836:114231836(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs751042704
CDS Mutation c.2535C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 40
Mutation Consequence synonymous_variant
Transcription ID ENST00000356083
Start 114275735:114275735(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3684G>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 41
Mutation Consequence synonymous_variant
Transcription ID ENST00000356083
Start 114194445:114194445(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs767457458
CDS Mutation c.2058C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 42
Mutation Consequence synonymous_variant
Transcription ID ENST00000356083
Start 114245892:114245892(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs376303544
CDS Mutation c.2961G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 43
Mutation Consequence synonymous_variant
Transcription ID ENST00000356083
Start 114304649:114304649(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs768707968
CDS Mutation c.4914C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 44
Mutation Consequence synonymous_variant
Transcription ID ENST00000356083
Start 114290824:114290824(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4383C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 45
Mutation Consequence synonymous_variant
Transcription ID ENST00000356083
Start 114168866:114168866(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1311G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 46
Mutation Consequence synonymous_variant
Transcription ID ENST00000356083
Start 114169019:114169019(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1464C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 47
Mutation Consequence synonymous_variant
Transcription ID ENST00000356083
Start 114309313:114309313(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs369369527
CDS Mutation c.5271C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 48
Mutation Consequence synonymous_variant
Transcription ID ENST00000356083
Start 114168608:114168608(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1053G>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 49
Mutation Consequence synonymous_variant
Transcription ID ENST00000356083
Start 114290313:114290313(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371179881
CDS Mutation c.4350C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 50
Mutation Consequence synonymous_variant
Transcription ID ENST00000356083
Start 114168014:114168014(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs143341894
CDS Mutation c.459C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 51
Mutation Consequence synonymous_variant
Transcription ID ENST00000356083
Start 114310593:114310593(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5481C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 52
Mutation Consequence synonymous_variant
Transcription ID ENST00000356083
Start 114307715:114307715(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs1388095
CDS Mutation c.5154C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 53
Mutation Consequence synonymous_variant
Transcription ID ENST00000356083
Start 114168716:114168716(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1161T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 54
Mutation Consequence frameshift_variant
Transcription ID ENST00000356083
Start 114290101:114290101(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4255delG
AA Mutation p.Val1419SerfsTer148(p.V1419Sfs*148)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 55
Mutation Consequence frameshift_variant
Transcription ID ENST00000356083
Start 114168906:114168906(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.1356delA
AA Mutation p.Lys452AsnfsTer6(p.K452Nfs*6)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 56
Mutation Consequence frameshift_variant
Transcription ID ENST00000356083
Start 114222243:114222243(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.2447delC
AA Mutation p.Pro816LeufsTer10(p.P816Lfs*10)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 57
Mutation Consequence frameshift_variant
Transcription ID ENST00000356083
Start 114240240:114240240(version: GRCh38)
Mutation Type DEL
dbSNP_RS rs761497355
CDS Mutation c.2753delC
AA Mutation p.Pro918LeufsTer9(p.P918Lfs*9)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 58
Mutation Consequence frameshift_variant
Transcription ID ENST00000356083
Start 114231839:114231839(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.2542delG
AA Mutation p.Glu848SerfsTer4(p.E848Sfs*4)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 59
Mutation Consequence frameshift_variant
Transcription ID ENST00000356083
Start 114167827:114167858(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.275_306delCCGCCTTGGGCACAGAGCTGGCACTGGTGCTG
AA Mutation p.Ala92GlufsTer108(p.A92Efs*108)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 60
Mutation Consequence frameshift_variant
Transcription ID ENST00000356083
Start 114264382:114264382(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.3226delG
AA Mutation p.Glu1076SerfsTer7(p.E1076Sfs*7)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 61
Mutation Consequence frameshift_variant
Transcription ID ENST00000356083
Start 114168601:114168602(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.1049dupC
AA Mutation p.Ala351CysfsTer101(p.A351Cfs*101)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 62
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000356083
Start 114162714:114162714(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.66delG
AA Mutation p.Leu24SerfsTer6(p.X22_splice)
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 63
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000356083
Start 114242185:114242185(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2836-2A>G
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 64
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000356083
Start 114252592:114252592(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3034-1G>T
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 65
Mutation Consequence splice_donor_variant
Transcription ID ENST00000356083
Start 114196014:114196014(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs760476125
CDS Mutation c.2124+2T>C
Mutation Classification Splice_Site
Feature Type Transcript

Rectum Cancer: Gene >> COL27A1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000356083
Start 114168847:114168847(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1292G>A
AA Mutation p.Gly431Glu(p.G431E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000356083
Start 114301309:114301309(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs375311559
CDS Mutation c.4781G>A
AA Mutation p.Arg1594His(p.R1594H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000356083
Start 114258590:114258590(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs368823650
CDS Mutation c.3191G>A
AA Mutation p.Arg1064His(p.R1064H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000356083
Start 114194446:114194446(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs752509769
CDS Mutation c.2059G>A
AA Mutation p.Asp687Asn(p.D687N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000356083
Start 114265082:114265082(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs146653470
CDS Mutation c.3311G>A
AA Mutation p.Arg1104Gln(p.R1104Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000356083
Start 114306602:114306602(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5021A>C
AA Mutation p.Gln1674Pro(p.Q1674P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence synonymous_variant
Transcription ID ENST00000356083
Start 114300105:114300105(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4620A>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 8
Mutation Consequence synonymous_variant
Transcription ID ENST00000356083
Start 114168845:114168845(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201849595
CDS Mutation c.1290G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 9
Mutation Consequence stop_gained
Transcription ID ENST00000356083
Start 114250663:114250663(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3028G>T
AA Mutation p.Glu1010Ter(p.E1010*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript