Colon Cancer: Gene >> PEG3

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000326441
Start	56815419:56815419(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs757018403
CDS Mutation	c.3023G>A
AA Mutation	p.Arg1008His(p.R1008H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000326441
Start	56816790:56816790(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1652G>T
AA Mutation	p.Ser551Ile(p.S551I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000326441
Start	56815053:56815053(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3389G>A
AA Mutation	p.Ser1130Asn(p.S1130N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000326441
Start	56815581:56815581(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2861C>A
AA Mutation	p.Ser954Tyr(p.S954Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000326441
Start	56821718:56821718(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs139872811
CDS Mutation	c.602C>T
AA Mutation	p.Ala201Val(p.A201V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000326441
Start	56816610:56816610(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1832G>T
AA Mutation	p.Ser611Ile(p.S611I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000326441
Start	56814361:56814361(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4081G>A
AA Mutation	p.Asp1361Asn(p.D1361N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000326441
Start	56815827:56815827(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2615G>A
AA Mutation	p.Arg872Gln(p.R872Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000326441
Start	56815924:56815924(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2518G>A
AA Mutation	p.Ala840Thr(p.A840T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000326441
Start	56823641:56823641(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.433A>G
AA Mutation	p.Thr145Ala(p.T145A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000326441
Start	56815840:56815840(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2602C>A
AA Mutation	p.Leu868Ile(p.L868I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000326441
Start	56823611:56823611(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.463C>T
AA Mutation	p.His155Tyr(p.H155Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000326441
Start	56814955:56814955(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3487T>C
AA Mutation	p.Tyr1163His(p.Y1163H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000326441
Start	56815284:56815284(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3158A>T
AA Mutation	p.Tyr1053Phe(p.Y1053F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000326441
Start	56814318:56814318(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4124A>G
AA Mutation	p.Glu1375Gly(p.E1375G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000326441
Start	56815354:56815354(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs368105379
CDS Mutation	c.3088C>T
AA Mutation	p.Arg1030Trp(p.R1030W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000326441
Start	56814385:56814385(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4057C>T
AA Mutation	p.Leu1353Phe(p.L1353F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	missense_variant
Transcription ID	ENST00000326441
Start	56817522:56817522(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.920A>C
AA Mutation	p.Asp307Ala(p.D307A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	missense_variant
Transcription ID	ENST00000326441
Start	56824324:56824324(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs763208406
CDS Mutation	c.332C>T
AA Mutation	p.Pro111Leu(p.P111L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	missense_variant
Transcription ID	ENST00000326441
Start	56814004:56814004(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs146926530
CDS Mutation	c.4438G>A
AA Mutation	p.Asp1480Asn(p.D1480N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	missense_variant
Transcription ID	ENST00000326441
Start	56824489:56824489(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.167A>G
AA Mutation	p.Glu56Gly(p.E56G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	missense_variant
Transcription ID	ENST00000326441
Start	56815740:56815740(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs560114002
CDS Mutation	c.2702G>A
AA Mutation	p.Arg901His(p.R901H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	missense_variant
Transcription ID	ENST00000326441
Start	56823668:56823668(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.406A>G
AA Mutation	p.Ser136Gly(p.S136G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	missense_variant
Transcription ID	ENST00000326441
Start	56816887:56816887(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs547030048
CDS Mutation	c.1555G>A
AA Mutation	p.Ala519Thr(p.A519T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	missense_variant
Transcription ID	ENST00000326441
Start	56824426:56824426(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs766536993
CDS Mutation	c.230C>T
AA Mutation	p.Pro77Leu(p.P77L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	missense_variant
Transcription ID	ENST00000326441
Start	56814774:56814774(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs777391933
CDS Mutation	c.3668C>T
AA Mutation	p.Ser1223Leu(p.S1223L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	missense_variant
Transcription ID	ENST00000326441
Start	56815978:56815978(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2464G>T
AA Mutation	p.Gly822Trp(p.G822W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	28
Mutation Consequence	missense_variant
Transcription ID	ENST00000326441
Start	56824433:56824433(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.223T>G
AA Mutation	p.Leu75Val(p.L75V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	29
Mutation Consequence	missense_variant
Transcription ID	ENST00000326441
Start	56813782:56813782(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4660G>A
AA Mutation	p.Gly1554Ser(p.G1554S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	30
Mutation Consequence	missense_variant
Transcription ID	ENST00000326441
Start	56815731:56815731(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2711C>A
AA Mutation	p.Pro904His(p.P904H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	31
Mutation Consequence	missense_variant
Transcription ID	ENST00000326441
Start	56816769:56816769(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1673G>A
AA Mutation	p.Gly558Asp(p.G558D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	32
Mutation Consequence	missense_variant
Transcription ID	ENST00000326441
Start	56814437:56814437(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4005G>T
AA Mutation	p.Lys1335Asn(p.K1335N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	33
Mutation Consequence	missense_variant
Transcription ID	ENST00000326441
Start	56816414:56816414(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2028G>T
AA Mutation	p.Gln676His(p.Q676H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	34
Mutation Consequence	missense_variant
Transcription ID	ENST00000326441
Start	56817029:56817029(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1413G>T
AA Mutation	p.Gln471His(p.Q471H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	35
Mutation Consequence	missense_variant
Transcription ID	ENST00000326441
Start	56814379:56814379(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4063C>A
AA Mutation	p.Leu1355Met(p.L1355M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	36
Mutation Consequence	missense_variant
Transcription ID	ENST00000326441
Start	56815344:56815344(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3098G>T
AA Mutation	p.Cys1033Phe(p.C1033F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	37
Mutation Consequence	missense_variant
Transcription ID	ENST00000326441
Start	56813992:56813992(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs370125347
CDS Mutation	c.4450G>A
AA Mutation	p.Gly1484Ser(p.G1484S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	38
Mutation Consequence	missense_variant
Transcription ID	ENST00000326441
Start	56815548:56815548(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs765309826
CDS Mutation	c.2894G>A
AA Mutation	p.Arg965Gln(p.R965Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	39
Mutation Consequence	missense_variant
Transcription ID	ENST00000326441
Start	56814198:56814198(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4244C>T
AA Mutation	p.Ala1415Val(p.A1415V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	40
Mutation Consequence	missense_variant
Transcription ID	ENST00000326441
Start	56813716:56813716(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs752608830
CDS Mutation	c.4726C>T
AA Mutation	p.Arg1576Cys(p.R1576C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	41
Mutation Consequence	missense_variant
Transcription ID	ENST00000326441
Start	56816632:56816632(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs376042442
CDS Mutation	c.1810C>T
AA Mutation	p.Arg604Cys(p.R604C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	42
Mutation Consequence	missense_variant
Transcription ID	ENST00000326441
Start	56813704:56813704(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs139998398
CDS Mutation	c.4738G>A
AA Mutation	p.Ala1580Thr(p.A1580T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	43
Mutation Consequence	missense_variant
Transcription ID	ENST00000326441
Start	56824514:56824514(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.142A>G
AA Mutation	p.Arg48Gly(p.R48G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	44
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000326441
Start	56816918:56816918(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs141314845
CDS Mutation	c.1524G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	45
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000326441
Start	56816012:56816012(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2430C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	46
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000326441
Start	56817122:56817122(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs549833425
CDS Mutation	c.1320C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	47
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000326441
Start	56814206:56814206(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4236A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	48
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000326441
Start	56821744:56821744(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs550751491
CDS Mutation	c.576G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	49
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000326441
Start	56815199:56815199(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3243G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	50
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000326441
Start	56814092:56814092(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4350T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	51
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000326441
Start	56816159:56816159(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2283G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	52
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000326441
Start	56814524:56814524(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs551557951
CDS Mutation	c.3918T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	53
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000326441
Start	56816408:56816408(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2034T>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	54
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000326441
Start	56817338:56817338(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1104G>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	55
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000326441
Start	56814986:56814986(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3456G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	56
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000326441
Start	56814947:56814947(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3495T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	57
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000326441
Start	56817005:56817005(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs750683081
CDS Mutation	c.1437C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	58
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000326441
Start	56823648:56823648(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs766142792
CDS Mutation	c.426C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	59
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000326441
Start	56815956:56815971(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.2471_2486delCCTCTGAAGGAAGGGA
AA Mutation	p.Thr824AsnfsTer10(p.T824Nfs*10)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	60
Mutation Consequence	stop_gained
Transcription ID	ENST00000326441
Start	56824454:56824454(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs143265310
CDS Mutation	c.202C>T
AA Mutation	p.Arg68Ter(p.R68*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	61
Mutation Consequence	stop_gained
Transcription ID	ENST00000326441
Start	56817496:56817496(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.946G>T
AA Mutation	p.Glu316Ter(p.E316*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	62
Mutation Consequence	stop_gained
Transcription ID	ENST00000326441
Start	56817459:56817459(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.983C>A
AA Mutation	p.Ser328Ter(p.S328*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	63
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000326441
Start	56817827:56817828(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.780dupT
AA Mutation	p.Ala261CysfsTer2(p.A261Cfs*2)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> PEG3

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000326441
Start	56814894:56814894(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3548G>T
AA Mutation	p.Arg1183Ile(p.R1183I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000326441
Start	56816871:56816871(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs775074097
CDS Mutation	c.1571G>A
AA Mutation	p.Arg524Gln(p.R524Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000326441
Start	56817101:56817101(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1341T>A
AA Mutation	p.Phe447Leu(p.F447L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000326441
Start	56817264:56817264(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1178G>A
AA Mutation	p.Arg393His(p.R393H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000326441
Start	56815002:56815002(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3440C>G
AA Mutation	p.Thr1147Ser(p.T1147S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000326441
Start	56817799:56817799(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs148655323
CDS Mutation	c.809C>T
AA Mutation	p.Thr270Met(p.T270M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000326441
Start	56814457:56814457(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs370009140
CDS Mutation	c.3985A>C
AA Mutation	p.Ile1329Leu(p.I1329L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000326441
Start	56814064:56814064(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4378G>T
AA Mutation	p.Asp1460Tyr(p.D1460Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000326441
Start	56817540:56817540(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs762141634
CDS Mutation	c.902G>A
AA Mutation	p.Arg301Gln(p.R301Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000326441
Start	56815777:56815777(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs751288968
CDS Mutation	c.2665C>T
AA Mutation	p.Arg889Cys(p.R889C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000326441
Start	56814227:56814227(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs776446931
CDS Mutation	c.4215A>C
AA Mutation	p.Glu1405Asp(p.E1405D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000326441
Start	56814072:56814072(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4370G>A
AA Mutation	p.Gly1457Asp(p.G1457D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000326441
Start	56814765:56814765(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs752710501
CDS Mutation	c.3677G>A
AA Mutation	p.Arg1226Gln(p.R1226Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000326441
Start	56815274:56815274(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3168G>T
AA Mutation	p.Glu1056Asp(p.E1056D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000326441
Start	56815878:56815878(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2564C>A
AA Mutation	p.Ser855Tyr(p.S855Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000326441
Start	56816117:56816117(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2325G>T
AA Mutation	p.Glu775Asp(p.E775D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000326441
Start	56817097:56817097(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1345G>A
AA Mutation	p.Ala449Thr(p.A449T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	missense_variant
Transcription ID	ENST00000326441
Start	56815899:56815899(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs750731373
CDS Mutation	c.2543A>G
AA Mutation	p.Asn848Ser(p.N848S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	missense_variant
Transcription ID	ENST00000326441
Start	56815147:56815147(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3295A>G
AA Mutation	p.Lys1099Glu(p.K1099E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	missense_variant
Transcription ID	ENST00000326441
Start	56815320:56815320(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3122C>A
AA Mutation	p.Ala1041Asp(p.A1041D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	missense_variant
Transcription ID	ENST00000326441
Start	56817472:56817472(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs112736049
CDS Mutation	c.970C>T
AA Mutation	p.Arg324Cys(p.R324C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000326441
Start	56824305:56824305(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.351C>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000326441
Start	56817819:56817819(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs142177720
CDS Mutation	c.789C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000326441
Start	56824590:56824590(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.66G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000326441
Start	56815847:56815847(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2595C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000326441
Start	56815124:56815124(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3318C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000326441
Start	56816138:56816138(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2304C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	28
Mutation Consequence	stop_gained
Transcription ID	ENST00000326441
Start	56814766:56814766(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3676C>T
AA Mutation	p.Arg1226Ter(p.R1226*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	29
Mutation Consequence	stop_gained
Transcription ID	ENST00000326441
Start	56824454:56824454(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs143265310
CDS Mutation	c.202C>T
AA Mutation	p.Arg68Ter(p.R68*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript