Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> FBN1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000316623
Start 48445472:48445472(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5821C>A
AA Mutation p.Leu1941Ile(p.L1941I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000316623
Start 48415619:48415619(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7968G>T
AA Mutation p.Gln2656His(p.Q2656H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000316623
Start 48526250:48526250(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.868G>A
AA Mutation p.Asp290Asn(p.D290N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000316623
Start 48422063:48422063(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7459G>C
AA Mutation p.Asp2487His(p.D2487H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000316623
Start 48492560:48492560(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2755G>A
AA Mutation p.Gly919Arg(p.G919R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000316623
Start 48425443:48425443(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7379A>T
AA Mutation p.Lys2460Ile(p.K2460I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000316623
Start 48434612:48434612(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6598C>T
AA Mutation p.Pro2200Ser(p.P2200S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000316623
Start 48465819:48465819(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs769588424
CDS Mutation c.4787G>A
AA Mutation p.Arg1596Gln(p.R1596Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000316623
Start 48497271:48497271(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2288G>T
AA Mutation p.Cys763Phe(p.C763F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000316623
Start 48472597:48472597(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4290A>C
AA Mutation p.Glu1430Asp(p.E1430D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000316623
Start 48415549:48415549(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs794728283
CDS Mutation c.8038C>T
AA Mutation p.Arg2680Cys(p.R2680C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000316623
Start 48600226:48600226(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.355T>G
AA Mutation p.Cys119Gly(p.C119G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000316623
Start 48456699:48456699(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5360G>A
AA Mutation p.Gly1787Asp(p.G1787D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000316623
Start 48446750:48446750(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5744G>A
AA Mutation p.Arg1915His(p.R1915H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000316623
Start 48490046:48490046(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2887G>A
AA Mutation p.Glu963Lys(p.E963K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000316623
Start 48537739:48537739(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.608T>C
AA Mutation p.Val203Ala(p.V203A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000316623
Start 48470688:48470688(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs587782946
CDS Mutation c.4405C>T
AA Mutation p.Arg1469Cys(p.R1469C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000316623
Start 48452567:48452567(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5540G>A
AA Mutation p.Cys1847Tyr(p.C1847Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000316623
Start 48483898:48483898(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3758A>T
AA Mutation p.Gln1253Leu(p.Q1253L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000316623
Start 48503928:48503928(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs751517759
CDS Mutation c.1972C>T
AA Mutation p.Arg658Trp(p.R658W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000316623
Start 48508684:48508684(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1735A>G
AA Mutation p.Arg579Gly(p.R579G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000316623
Start 48412640:48412640(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8155A>G
AA Mutation p.Lys2719Glu(p.K2719E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000316623
Start 48495532:48495532(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2476G>T
AA Mutation p.Gly826Cys(p.G826C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000316623
Start 48463087:48463087(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5219G>A
AA Mutation p.Ser1740Asn(p.S1740N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000316623
Start 48487393:48487393(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3382G>T
AA Mutation p.Val1128Phe(p.V1128F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000316623
Start 48463127:48463127(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs752450678
CDS Mutation c.5179C>T
AA Mutation p.Arg1727Trp(p.R1727W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000316623
Start 48515519:48515519(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1336C>T
AA Mutation p.Pro446Ser(p.P446S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000316623
Start 48487150:48487150(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200125037
CDS Mutation c.3514G>A
AA Mutation p.Val1172Met(p.V1172M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000316623
Start 48644678:48644678(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.92C>T
AA Mutation p.Ala31Val(p.A31V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000316623
Start 48490073:48490073(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2860C>T
AA Mutation p.Arg954Cys(p.R954C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000316623
Start 48474281:48474281(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4184A>G
AA Mutation p.Tyr1395Cys(p.Y1395C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000316623
Start 48644756:48644756(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.14G>A
AA Mutation p.Arg5His(p.R5H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000316623
Start 48489983:48489983(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2950G>T
AA Mutation p.Val984Phe(p.V984F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000316623
Start 48465844:48465844(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4762C>T
AA Mutation p.Leu1588Phe(p.L1588F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000316623
Start 48434614:48434614(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6596G>A
AA Mutation p.Gly2199Asp(p.G2199D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000316623
Start 48425456:48425456(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7366A>G
AA Mutation p.Asn2456Asp(p.N2456D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000316623
Start 48468069:48468069(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs756882751
CDS Mutation c.4616G>A
AA Mutation p.Arg1539Gln(p.R1539Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000316623
Start 48510098:48510098(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1660C>A
AA Mutation p.His554Asn(p.H554N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000316623
Start 48513590:48513590(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs775489067
CDS Mutation c.1547G>A
AA Mutation p.Arg516Gln(p.R516Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 40
Mutation Consequence missense_variant
Transcription ID ENST00000316623
Start 48411106:48411106(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8500A>G
AA Mutation p.Thr2834Ala(p.T2834A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 41
Mutation Consequence missense_variant
Transcription ID ENST00000316623
Start 48428390:48428390(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6953G>A
AA Mutation p.Cys2318Tyr(p.C2318Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 42
Mutation Consequence missense_variant
Transcription ID ENST00000316623
Start 48481699:48481699(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3920G>A
AA Mutation p.Cys1307Tyr(p.C1307Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 43
Mutation Consequence missense_variant
Transcription ID ENST00000316623
Start 48415711:48415711(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7876C>A
AA Mutation p.Leu2626Met(p.L2626M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 44
Mutation Consequence synonymous_variant
Transcription ID ENST00000316623
Start 48474268:48474268(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs376886165
CDS Mutation c.4197C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 45
Mutation Consequence synonymous_variant
Transcription ID ENST00000316623
Start 48488234:48488234(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs757177349
CDS Mutation c.3216C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 46
Mutation Consequence synonymous_variant
Transcription ID ENST00000316623
Start 48537708:48537708(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs543984363
CDS Mutation c.639C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 47
Mutation Consequence synonymous_variant
Transcription ID ENST00000316623
Start 48495575:48495575(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs193921256
CDS Mutation c.2433C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 48
Mutation Consequence synonymous_variant
Transcription ID ENST00000316623
Start 48437004:48437004(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs794728251
CDS Mutation c.6453C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 49
Mutation Consequence synonymous_variant
Transcription ID ENST00000316623
Start 48425839:48425839(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs193922231
CDS Mutation c.7230C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 50
Mutation Consequence synonymous_variant
Transcription ID ENST00000316623
Start 48421652:48421652(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7605C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 51
Mutation Consequence synonymous_variant
Transcription ID ENST00000316623
Start 48456677:48456677(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs777460910
CDS Mutation c.5382A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 52
Mutation Consequence synonymous_variant
Transcription ID ENST00000316623
Start 48489999:48489999(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs138438849
CDS Mutation c.2934C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 53
Mutation Consequence synonymous_variant
Transcription ID ENST00000316623
Start 48488165:48488165(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3285C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 54
Mutation Consequence synonymous_variant
Transcription ID ENST00000316623
Start 48427721:48427721(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs772287755
CDS Mutation c.7050C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 55
Mutation Consequence synonymous_variant
Transcription ID ENST00000316623
Start 48432972:48432972(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6633C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 56
Mutation Consequence synonymous_variant
Transcription ID ENST00000316623
Start 48496119:48496119(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2400T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 57
Mutation Consequence synonymous_variant
Transcription ID ENST00000316623
Start 48415736:48415736(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs147019323
CDS Mutation c.7851C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 58
Mutation Consequence stop_gained
Transcription ID ENST00000316623
Start 48474357:48474357(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4108G>T
AA Mutation p.Gly1370Ter(p.G1370*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 59
Mutation Consequence stop_gained
Transcription ID ENST00000316623
Start 48411085:48411085(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs587782948
CDS Mutation c.8521G>T
AA Mutation p.Glu2841Ter(p.E2841*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 60
Mutation Consequence stop_gained
Transcription ID ENST00000316623
Start 48411280:48411280(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs137854466
CDS Mutation c.8326C>T
AA Mutation p.Arg2776Ter(p.R2776*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 61
Mutation Consequence stop_gained
Transcription ID ENST00000316623
Start 48425829:48425829(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7240C>T
AA Mutation p.Arg2414Ter(p.R2414*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 62
Mutation Consequence stop_gained
Transcription ID ENST00000316623
Start 48520729:48520729(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1077C>A
AA Mutation p.Cys359Ter(p.C359*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 63
Mutation Consequence splice_donor_variant
Transcription ID ENST00000316623
Start 48444540:48444540(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6037+1G>A
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 64
Mutation Consequence splice_donor_variant
Transcription ID ENST00000316623
Start 48496098:48496098(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2419+2T>C
Mutation Classification Splice_Site
Feature Type Transcript

Rectum Cancer: Gene >> FBN1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000316623
Start 48468069:48468069(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs756882751
CDS Mutation c.4616G>A
AA Mutation p.Arg1539Gln(p.R1539Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000316623
Start 48487093:48487093(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs370121450
CDS Mutation c.3571G>A
AA Mutation p.Asp1191Asn(p.D1191N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000316623
Start 48600217:48600217(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs137854467
CDS Mutation c.364C>T
AA Mutation p.Arg122Cys(p.R122C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000316623
Start 48495513:48495513(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2495G>C
AA Mutation p.Cys832Ser(p.C832S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000316623
Start 48510125:48510125(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs730880099
CDS Mutation c.1633C>T
AA Mutation p.Arg545Cys(p.R545C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000316623
Start 48472628:48472628(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4259G>T
AA Mutation p.Cys1420Phe(p.C1420F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000316623
Start 48596327:48596327(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.494G>A
AA Mutation p.Arg165Gln(p.R165Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000316623
Start 48481690:48481690(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3929G>A
AA Mutation p.Gly1310Asp(p.G1310D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000316623
Start 48411256:48411256(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8350C>A
AA Mutation p.Leu2784Ile(p.L2784I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000316623
Start 48437021:48437021(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6436G>T
AA Mutation p.Asp2146Tyr(p.D2146Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000316623
Start 48437792:48437792(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6289G>A
AA Mutation p.Glu2097Lys(p.E2097K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000316623
Start 48456668:48456668(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5391C>A
AA Mutation p.Phe1797Leu(p.F1797L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000316623
Start 48472647:48472647(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4240C>A
AA Mutation p.Leu1414Ile(p.L1414I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000316623
Start 48505106:48505106(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs727503057
CDS Mutation c.1879C>T
AA Mutation p.Arg627Cys(p.R627C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000316623
Start 48516234:48516234(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs532909030
CDS Mutation c.1276C>T
AA Mutation p.Pro426Ser(p.P426S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000316623
Start 48468507:48468507(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs776199613
CDS Mutation c.4487C>T
AA Mutation p.Thr1496Met(p.T1496M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000316623
Start 48411142:48411142(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8464C>T
AA Mutation p.Pro2822Ser(p.P2822S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000316623
Start 48430791:48430791(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6751T>C
AA Mutation p.Cys2251Arg(p.C2251R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000316623
Start 48448840:48448840(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5599G>T
AA Mutation p.Asp1867Tyr(p.D1867Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000316623
Start 48644619:48644619(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.151G>A
AA Mutation p.Asp51Asn(p.D51N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000316623
Start 48444598:48444598(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5980G>T
AA Mutation p.Gly1994Trp(p.G1994W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence synonymous_variant
Transcription ID ENST00000316623
Start 48460271:48460271(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5271C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 23
Mutation Consequence synonymous_variant
Transcription ID ENST00000316623
Start 48470671:48470671(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4422A>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 24
Mutation Consequence synonymous_variant
Transcription ID ENST00000316623
Start 48415754:48415754(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7833C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 25
Mutation Consequence synonymous_variant
Transcription ID ENST00000316623
Start 48483912:48483912(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3744C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 26
Mutation Consequence synonymous_variant
Transcription ID ENST00000316623
Start 48485483:48485483(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3603C>T
Mutation Classification Silent
Feature Type Transcript