Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> PCDH15

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000320301
Start 53822855:53822855(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4871C>G
AA Mutation p.Pro1624Arg(p.P1624R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000320301
Start 53857214:53857214(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3767C>T
AA Mutation p.Pro1256Leu(p.P1256L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000320301
Start 54079374:54079374(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs771976717
CDS Mutation c.2048G>A
AA Mutation p.Arg683His(p.R683H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000614895
Start 53806814:53806814(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4811A>C
AA Mutation p.Lys1604Thr(p.K1604T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000613657
Start 53809077:53809077(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4988A>G
AA Mutation p.Asn1663Ser(p.N1663S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000320301
Start 53822652:53822652(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5074T>A
AA Mutation p.Ser1692Thr(p.S1692T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000320301
Start 54153229:54153229(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1655C>A
AA Mutation p.Ala552Asp(p.A552D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000320301
Start 54236906:54236906(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs370933593
CDS Mutation c.902C>T
AA Mutation p.Thr301Met(p.T301M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000320301
Start 54664237:54664237(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.26C>A
AA Mutation p.Thr9Lys(p.T9K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000320301
Start 54183452:54183452(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1582G>T
AA Mutation p.Val528Phe(p.V528F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000320301
Start 53831415:53831415(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4102G>A
AA Mutation p.Glu1368Lys(p.E1368K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000320301
Start 54317413:54317413(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs562377533
CDS Mutation c.734G>A
AA Mutation p.Arg245Gln(p.R245Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000614895
Start 53806788:53806788(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4837A>G
AA Mutation p.Thr1613Ala(p.T1613A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000320301
Start 53823058:53823058(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4668A>G
AA Mutation p.Ile1556Met(p.I1556M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000320301
Start 54023052:54023052(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2366T>G
AA Mutation p.Val789Gly(p.V789G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000320301
Start 54090057:54090057(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1924G>T
AA Mutation p.Asp642Tyr(p.D642Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000320301
Start 53831468:53831468(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs752356781
CDS Mutation c.4049G>A
AA Mutation p.Arg1350His(p.R1350H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000320301
Start 54317440:54317440(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.707A>C
AA Mutation p.Asp236Ala(p.D236A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000320301
Start 54329669:54329669(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.632C>T
AA Mutation p.Thr211Ile(p.T211I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000320301
Start 54020380:54020380(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs138010738
CDS Mutation c.2563C>T
AA Mutation p.Arg855Trp(p.R855W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000614895
Start 53806685:53806685(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4940A>G
AA Mutation p.Asn1647Ser(p.N1647S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000613657
Start 53808734:53808734(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs749874091
CDS Mutation c.5331G>T
AA Mutation p.Lys1777Asn(p.K1777N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000613657
Start 53809425:53809425(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4640G>T
AA Mutation p.Arg1547Ile(p.R1547I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000320301
Start 53822639:53822639(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs746157145
CDS Mutation c.5087G>A
AA Mutation p.Cys1696Tyr(p.C1696Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000320301
Start 53822142:53822142(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5584A>G
AA Mutation p.Met1862Val(p.M1862V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000320301
Start 53823188:53823188(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4538T>C
AA Mutation p.Phe1513Ser(p.F1513S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000613657
Start 53809540:53809540(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4525C>T
AA Mutation p.Pro1509Ser(p.P1509S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000320301
Start 54378827:54378827(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.273G>C
AA Mutation p.Lys91Asn(p.K91N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000320301
Start 54020404:54020404(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs751941551
CDS Mutation c.2539G>A
AA Mutation p.Asp847Asn(p.D847N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000320301
Start 53866650:53866650(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371278220
CDS Mutation c.3709G>A
AA Mutation p.Asp1237Asn(p.D1237N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000320301
Start 53822977:53822977(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4749G>T
AA Mutation p.Arg1583Ser(p.R1583S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000320301
Start 54195861:54195861(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1127C>G
AA Mutation p.Pro376Arg(p.P376R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000320301
Start 54153207:54153207(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1677T>G
AA Mutation p.Asn559Lys(p.N559K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000614895
Start 53806589:53806589(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5036C>A
AA Mutation p.Thr1679Lys(p.T1679K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000320301
Start 54213994:54213994(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1040T>G
AA Mutation p.Leu347Arg(p.L347R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000320301
Start 54378904:54378904(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.196G>T
AA Mutation p.Ala66Ser(p.A66S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000320301
Start 53903302:53903302(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs189940190
CDS Mutation c.3442T>A
AA Mutation p.Phe1148Ile(p.F1148I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000320301
Start 54079365:54079365(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2057T>A
AA Mutation p.Leu686Gln(p.L686Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000320301
Start 54214027:54214027(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs370442031
CDS Mutation c.1007G>A
AA Mutation p.Arg336Gln(p.R336Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 40
Mutation Consequence missense_variant
Transcription ID ENST00000320301
Start 54153103:54153103(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1781G>A
AA Mutation p.Arg594Gln(p.R594Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 41
Mutation Consequence missense_variant
Transcription ID ENST00000320301
Start 53822855:53822855(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4871C>T
AA Mutation p.Pro1624Leu(p.P1624L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 42
Mutation Consequence missense_variant
Transcription ID ENST00000320301
Start 54066881:54066881(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2096C>T
AA Mutation p.Ser699Leu(p.S699L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 43
Mutation Consequence missense_variant
Transcription ID ENST00000320301
Start 53822283:53822283(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5443C>T
AA Mutation p.Pro1815Ser(p.P1815S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 44
Mutation Consequence missense_variant
Transcription ID ENST00000320301
Start 53823119:53823119(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4607T>C
AA Mutation p.Val1536Ala(p.V1536A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 45
Mutation Consequence missense_variant
Transcription ID ENST00000320301
Start 54066804:54066804(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2173T>G
AA Mutation p.Leu725Val(p.L725V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 46
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000320301
Start 54185268:54185268(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs747795209
CDS Mutation c.1306A>G
AA Mutation p.Thr436Ala(p.T436A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 47
Mutation Consequence missense_variant
Transcription ID ENST00000320301
Start 54195765:54195765(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1223C>A
AA Mutation p.Ala408Asp(p.A408D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 48
Mutation Consequence missense_variant
Transcription ID ENST00000613657
Start 53809024:53809024(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5041G>A
AA Mutation p.Gly1681Ser(p.G1681S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 49
Mutation Consequence missense_variant
Transcription ID ENST00000320301
Start 54195721:54195721(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1267C>T
AA Mutation p.Pro423Ser(p.P423S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 50
Mutation Consequence missense_variant
Transcription ID ENST00000320301
Start 54378891:54378891(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.209A>C
AA Mutation p.Asp70Ala(p.D70A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 51
Mutation Consequence missense_variant
Transcription ID ENST00000320301
Start 53822711:53822711(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5015C>A
AA Mutation p.Ser1672Tyr(p.S1672Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 52
Mutation Consequence missense_variant
Transcription ID ENST00000320301
Start 54378889:54378889(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.211C>A
AA Mutation p.Pro71Thr(p.P71T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 53
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000320301
Start 54195685:54195685(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs752256957
CDS Mutation c.1303G>T
AA Mutation p.Asp435Tyr(p.D435Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 54
Mutation Consequence missense_variant
Transcription ID ENST00000320301
Start 53822047:53822047(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5679A>C
AA Mutation p.Glu1893Asp(p.E1893D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 55
Mutation Consequence missense_variant
Transcription ID ENST00000613657
Start 53809038:53809038(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5027T>C
AA Mutation p.Val1676Ala(p.V1676A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 56
Mutation Consequence missense_variant
Transcription ID ENST00000614895
Start 53810653:53810653(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4397C>A
AA Mutation p.Pro1466His(p.P1466H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 57
Mutation Consequence missense_variant
Transcription ID ENST00000320301
Start 53822846:53822846(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4880C>A
AA Mutation p.Thr1627Lys(p.T1627K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 58
Mutation Consequence missense_variant
Transcription ID ENST00000614895
Start 53806806:53806806(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4819G>A
AA Mutation p.Ala1607Thr(p.A1607T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 59
Mutation Consequence missense_variant
Transcription ID ENST00000320301
Start 54317369:54317369(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.778G>T
AA Mutation p.Asp260Tyr(p.D260Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 60
Mutation Consequence missense_variant
Transcription ID ENST00000320301
Start 54378885:54378885(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.215C>T
AA Mutation p.Thr72Ile(p.T72I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 61
Mutation Consequence missense_variant
Transcription ID ENST00000320301
Start 53822450:53822450(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5276C>A
AA Mutation p.Pro1759His(p.P1759H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 62
Mutation Consequence missense_variant
Transcription ID ENST00000614895
Start 53806943:53806943(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs747965484
CDS Mutation c.4682C>T
AA Mutation p.Thr1561Met(p.T1561M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 63
Mutation Consequence missense_variant
Transcription ID ENST00000613657
Start 53809516:53809516(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4549G>A
AA Mutation p.Val1517Ile(p.V1517I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 64
Mutation Consequence missense_variant
Transcription ID ENST00000617271
Start 53809511:53809511(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4589A>C
AA Mutation p.Lys1530Thr(p.K1530T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 65
Mutation Consequence synonymous_variant
Transcription ID ENST00000320301
Start 54066880:54066880(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2097A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 66
Mutation Consequence synonymous_variant
Transcription ID ENST00000614895
Start 53806750:53806750(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs572313030
CDS Mutation c.4875G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 67
Mutation Consequence synonymous_variant
Transcription ID ENST00000320301
Start 53822521:53822521(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5205C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 68
Mutation Consequence synonymous_variant
Transcription ID ENST00000320301
Start 53822851:53822851(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4875G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 69
Mutation Consequence synonymous_variant
Transcription ID ENST00000320301
Start 53866681:53866681(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs769900736
CDS Mutation c.3678C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 70
Mutation Consequence synonymous_variant
Transcription ID ENST00000320301
Start 54066868:54066868(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2109A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 71
Mutation Consequence synonymous_variant
Transcription ID ENST00000320301
Start 54236905:54236905(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs189227500
CDS Mutation c.903G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 72
Mutation Consequence synonymous_variant
Transcription ID ENST00000320301
Start 54527816:54527816(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.153G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 73
Mutation Consequence synonymous_variant
Transcription ID ENST00000613657
Start 53808731:53808731(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs756591693
CDS Mutation c.5334G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 74
Mutation Consequence synonymous_variant
Transcription ID ENST00000320301
Start 54153183:54153183(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs773444573
CDS Mutation c.1701C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 75
Mutation Consequence synonymous_variant
Transcription ID ENST00000320301
Start 53827449:53827449(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4311G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 76
Mutation Consequence synonymous_variant
Transcription ID ENST00000614895
Start 53806909:53806909(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4716G>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 77
Mutation Consequence frameshift_variant
Transcription ID ENST00000320301
Start 53822603:53822603(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.5123delT
AA Mutation p.Leu1708TyrfsTer136(p.L1708Yfs*136)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 78
Mutation Consequence frameshift_variant
Transcription ID ENST00000320301
Start 53857193:53857193(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.3788delA
AA Mutation p.Lys1263ArgfsTer2(p.K1263Rfs*2)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 79
Mutation Consequence frameshift_variant
Transcription ID ENST00000320301
Start 54079418:54079418(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.2004delG
AA Mutation p.Ile669PhefsTer2(p.I669Ffs*2)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 80
Mutation Consequence stop_gained
Transcription ID ENST00000320301
Start 53821947:53821947(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5779G>T
AA Mutation p.Glu1927Ter(p.E1927*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 81
Mutation Consequence stop_gained
Transcription ID ENST00000320301
Start 53822784:53822784(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4942G>T
AA Mutation p.Glu1648Ter(p.E1648*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 82
Mutation Consequence stop_gained
Transcription ID ENST00000320301
Start 54153104:54153104(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1780C>T
AA Mutation p.Arg594Ter(p.R594*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 83
Mutation Consequence stop_gained
Transcription ID ENST00000320301
Start 54664256:54664256(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs137853001
CDS Mutation c.7C>T
AA Mutation p.Arg3Ter(p.R3*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 84
Mutation Consequence stop_gained
Transcription ID ENST00000320301
Start 53822934:53822934(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4792C>T
AA Mutation p.Gln1598Ter(p.Q1598*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 85
Mutation Consequence frameshift_variant
Transcription ID ENST00000320301
Start 53822008:53822009(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.5717dupA
AA Mutation p.Asn1906LysfsTer26(p.N1906Kfs*26)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 86
Mutation Consequence splice_donor_variant
Transcription ID ENST00000320301
Start 53866641:53866641(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs748706627
CDS Mutation c.3717+1G>A
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 87
Mutation Consequence inframe_deletion
Transcription ID ENST00000613657
Start 53809096:53809098(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.4967_4969delAAG
AA Mutation p.Glu1656del(p.E1656del)
Mutation Classification In_Frame_Del
Feature Type Transcript

Rectum Cancer: Gene >> PCDH15

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000320301
Start 54317375:54317375(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.772G>A
AA Mutation p.Gly258Arg(p.G258R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000320301
Start 53822381:53822381(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5345C>A
AA Mutation p.Ser1782Tyr(p.S1782Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000320301
Start 54020319:54020319(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201328768
CDS Mutation c.2624C>T
AA Mutation p.Ser875Leu(p.S875L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000320301
Start 54329615:54329615(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.686T>G
AA Mutation p.Phe229Cys(p.F229C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000320301
Start 53831509:53831509(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4008T>A
AA Mutation p.Asp1336Glu(p.D1336E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000320301
Start 54153284:54153284(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1600G>T
AA Mutation p.Val534Phe(p.V534F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000320301
Start 53823092:53823092(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4634G>T
AA Mutation p.Arg1545Ile(p.R1545I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000613657
Start 53809062:53809062(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5003G>T
AA Mutation p.Arg1668Ile(p.R1668I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000320301
Start 53840339:53840339(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3964G>T
AA Mutation p.Asp1322Tyr(p.D1322Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000320301
Start 53938833:53938833(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3355C>A
AA Mutation p.Leu1119Ile(p.L1119I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000320301
Start 54185135:54185135(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1439C>T
AA Mutation p.Ser480Leu(p.S480L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000320301
Start 54346450:54346450(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.509T>A
AA Mutation p.Phe170Tyr(p.F170Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000320301
Start 53822528:53822528(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5198A>G
AA Mutation p.Asn1733Ser(p.N1733S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000320301
Start 54185254:54185254(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1320G>C
AA Mutation p.Glu440Asp(p.E440D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000320301
Start 53903269:53903269(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3475A>C
AA Mutation p.Met1159Leu(p.M1159L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence synonymous_variant
Transcription ID ENST00000320301
Start 54183552:54183552(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1482C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 17
Mutation Consequence synonymous_variant
Transcription ID ENST00000320301
Start 54317358:54317358(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.789A>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 18
Mutation Consequence synonymous_variant
Transcription ID ENST00000320301
Start 54236863:54236863(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs150450873
CDS Mutation c.945G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 19
Mutation Consequence synonymous_variant
Transcription ID ENST00000320301
Start 54183495:54183495(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1539C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 20
Mutation Consequence synonymous_variant
Transcription ID ENST00000320301
Start 53822626:53822626(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5100T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 21
Mutation Consequence synonymous_variant
Transcription ID ENST00000614895
Start 53807002:53807002(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs750530478
CDS Mutation c.4623C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 22
Mutation Consequence synonymous_variant
Transcription ID ENST00000320301
Start 53866681:53866681(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs769900736
CDS Mutation c.3678C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 23
Mutation Consequence synonymous_variant
Transcription ID ENST00000320301
Start 53821903:53821903(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5823C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 24
Mutation Consequence synonymous_variant
Transcription ID ENST00000320301
Start 53831341:53831341(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4176C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 25
Mutation Consequence synonymous_variant
Transcription ID ENST00000320301
Start 53959776:53959776(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3078C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 26
Mutation Consequence synonymous_variant
Transcription ID ENST00000320301
Start 54153282:54153282(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1602C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 27
Mutation Consequence frameshift_variant
Transcription ID ENST00000320301
Start 53822044:53822044(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.5682delA
AA Mutation p.Lys1894AsnfsTer3(p.K1894Nfs*3)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 28
Mutation Consequence stop_gained
Transcription ID ENST00000320301
Start 54317414:54317414(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs111033260
CDS Mutation c.733C>T
AA Mutation p.Arg245Ter(p.R245*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence stop_gained
Transcription ID ENST00000613657
Start 53809273:53809273(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4792G>T
AA Mutation p.Glu1598Ter(p.E1598*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript