Colon Cancer: Gene >> NRXN1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000406316
Start	50531341:50531341(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs750613816
CDS Mutation	c.2233C>T
AA Mutation	p.Arg745Trp(p.R745W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000406316
Start	50496028:50496028(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2947C>A
AA Mutation	p.Leu983Ile(p.L983I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000406316
Start	50497474:50497474(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs77454382
CDS Mutation	c.2738C>T
AA Mutation	p.Ser913Leu(p.S913L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000406316
Start	50472408:50472408(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3134C>A
AA Mutation	p.Ala1045Asp(p.A1045D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000406316
Start	50053495:50053495(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3814T>C
AA Mutation	p.Tyr1272His(p.Y1272H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000406316
Start	51027781:51027781(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs200202367
CDS Mutation	c.493G>A
AA Mutation	p.Ala165Thr(p.A165T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000406316
Start	50091446:50091446(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201336161
CDS Mutation	c.3595G>A
AA Mutation	p.Ala1199Thr(p.A1199T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000406316
Start	49921969:49921969(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4409A>G
AA Mutation	p.Asn1470Ser(p.N1470S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000406316
Start	50552726:50552726(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1620C>A
AA Mutation	p.Phe540Leu(p.F540L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000406316
Start	51027784:51027784(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.490G>A
AA Mutation	p.Ala164Thr(p.A164T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000406316
Start	50538528:50538528(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1868C>A
AA Mutation	p.Ala623Asp(p.A623D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000406316
Start	50053484:50053484(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs768790347
CDS Mutation	c.3825G>T
AA Mutation	p.Leu1275Phe(p.L1275F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000406316
Start	50495959:50495959(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3016G>C
AA Mutation	p.Asp1006His(p.D1006H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000406316
Start	50623391:50623391(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1057G>T
AA Mutation	p.Ala353Ser(p.A353S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000406316
Start	50623330:50623330(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1118C>T
AA Mutation	p.Thr373Ile(p.T373I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000406316
Start	50495970:50495970(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3005C>T
AA Mutation	p.Thr1002Ile(p.T1002I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000406316
Start	50053398:50053398(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3911T>C
AA Mutation	p.Met1304Thr(p.M1304T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	missense_variant
Transcription ID	ENST00000406316
Start	50506542:50506542(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201873057
CDS Mutation	c.2450G>A
AA Mutation	p.Arg817His(p.R817H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	missense_variant
Transcription ID	ENST00000406316
Start	50497413:50497413(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2799C>A
AA Mutation	p.Phe933Leu(p.F933L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000406316
Start	49943791:49943791(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4039A>G
AA Mutation	p.Thr1347Ala(p.T1347A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	missense_variant
Transcription ID	ENST00000406316
Start	51027739:51027739(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.535C>A
AA Mutation	p.Pro179Thr(p.P179T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	missense_variant
Transcription ID	ENST00000406316
Start	50053293:50053293(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4016C>G
AA Mutation	p.Pro1339Arg(p.P1339R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	missense_variant
Transcription ID	ENST00000406316
Start	50620149:50620149(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs147400611
CDS Mutation	c.1193C>T
AA Mutation	p.Thr398Met(p.T398M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	missense_variant
Transcription ID	ENST00000406316
Start	51027529:51027529(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.745G>A
AA Mutation	p.Gly249Ser(p.G249S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	missense_variant
Transcription ID	ENST00000406316
Start	50538457:50538457(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1939T>G
AA Mutation	p.Leu647Val(p.L647V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	missense_variant
Transcription ID	ENST00000406316
Start	50506554:50506554(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs773464948
CDS Mutation	c.2438G>A
AA Mutation	p.Arg813His(p.R813H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	missense_variant
Transcription ID	ENST00000406316
Start	50538330:50538330(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2066G>A
AA Mutation	p.Gly689Asp(p.G689D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	28
Mutation Consequence	missense_variant
Transcription ID	ENST00000406316
Start	50091335:50091335(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3706C>T
AA Mutation	p.Arg1236Cys(p.R1236C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	29
Mutation Consequence	missense_variant
Transcription ID	ENST00000406316
Start	51027568:51027568(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.706G>A
AA Mutation	p.Val236Met(p.V236M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	30
Mutation Consequence	missense_variant
Transcription ID	ENST00000406316
Start	50236829:50236829(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3506A>G
AA Mutation	p.Asp1169Gly(p.D1169G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	31
Mutation Consequence	missense_variant
Transcription ID	ENST00000406316
Start	50472361:50472361(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs765632172
CDS Mutation	c.3181C>T
AA Mutation	p.Arg1061Trp(p.R1061W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	32
Mutation Consequence	missense_variant
Transcription ID	ENST00000406316
Start	50497528:50497528(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2684C>T
AA Mutation	p.Ala895Val(p.A895V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	33
Mutation Consequence	missense_variant
Transcription ID	ENST00000406316
Start	51027793:51027793(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.481G>A
AA Mutation	p.Glu161Lys(p.E161K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	34
Mutation Consequence	missense_variant
Transcription ID	ENST00000406316
Start	50552617:50552617(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1729C>A
AA Mutation	p.His577Asn(p.H577N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	35
Mutation Consequence	missense_variant
Transcription ID	ENST00000406316
Start	50623468:50623468(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.980C>T
AA Mutation	p.Ser327Leu(p.S327L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	36
Mutation Consequence	missense_variant
Transcription ID	ENST00000406316
Start	50528633:50528633(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs200610894
CDS Mutation	c.2366G>C
AA Mutation	p.Cys789Ser(p.C789S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	37
Mutation Consequence	missense_variant
Transcription ID	ENST00000406316
Start	50552734:50552734(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1612G>T
AA Mutation	p.Val538Leu(p.V538L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	38
Mutation Consequence	missense_variant
Transcription ID	ENST00000406316
Start	50552958:50552958(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1388T>C
AA Mutation	p.Met463Thr(p.M463T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	39
Mutation Consequence	missense_variant
Transcription ID	ENST00000406316
Start	50531257:50531257(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs199548487
CDS Mutation	c.2317G>T
AA Mutation	p.Ala773Ser(p.A773S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	40
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000406316
Start	51028082:51028082(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs748944452
CDS Mutation	c.192C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	41
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000406316
Start	50620133:50620133(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1209A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	42
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000406316
Start	50091462:50091462(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3579T>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	43
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000406316
Start	50538461:50538461(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs768668947
CDS Mutation	c.1935G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	44
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000406316
Start	50922680:50922680(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201027928
CDS Mutation	c.798G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	45
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000406316
Start	50053514:50053514(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3795C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	46
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000406316
Start	50538287:50538287(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs200456688
CDS Mutation	c.2109C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	47
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000406316
Start	50538553:50538553(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201029409
CDS Mutation	c.1843C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	48
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000406316
Start	50236963:50236963(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs200769389
CDS Mutation	c.3372G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	49
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000406316
Start	51028151:51028151(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.123G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	50
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000406316
Start	49922166:49922166(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4212C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	51
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000406316
Start	49922175:49922175(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs369748793
CDS Mutation	c.4203G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	52
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000406316
Start	51027821:51027821(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs774821523
CDS Mutation	c.453C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	53
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000406316
Start	49922195:49922195(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4183C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	54
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000406316
Start	51027785:51027785(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs747224688
CDS Mutation	c.489C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	55
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000406316
Start	51027794:51027794(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs771181102
CDS Mutation	c.480G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	56
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000406316
Start	51027983:51027983(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.291C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	57
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000406316
Start	51027938:51027938(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.336C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	58
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000406316
Start	50623593:50623593(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201753471
CDS Mutation	c.855G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	59
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000406316
Start	51027650:51027650(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.624G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	60
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000406316
Start	50623566:50623566(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs200464704
CDS Mutation	c.882C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	61
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000406316
Start	49921956:49921956(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4422G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	62
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000406316
Start	51027614:51027614(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.660C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	63
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000406316
Start	50506534:50506534(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.2458delA
AA Mutation	p.Ser820ValfsTer2(p.S820Vfs*2)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	64
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000406316
Start	50538545:50538545(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1851delG
AA Mutation	p.Leu618CysfsTer51(p.L618Cfs*51)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	65
Mutation Consequence	stop_gained
Transcription ID	ENST00000406316
Start	50531343:50531343(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2231T>A
AA Mutation	p.Leu744Ter(p.L744*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	66
Mutation Consequence	stop_gained
Transcription ID	ENST00000406316
Start	50236836:50236836(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs199546979
CDS Mutation	c.3499C>T
AA Mutation	p.Arg1167Ter(p.R1167*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	67
Mutation Consequence	stop_gained
Transcription ID	ENST00000406316
Start	49922063:49922063(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4315C>T
AA Mutation	p.Arg1439Ter(p.R1439*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	68
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000406316
Start	50538627:50538628(version: GRCh38)
Mutation Type	INS
dbSNP_RS	null
CDS Mutation	c.1768_1769insA
AA Mutation	p.Ser590TyrfsTer14(p.S590Yfs*14)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	69
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000406316
Start	50497419:50497420(version: GRCh38)
Mutation Type	INS
dbSNP_RS	null
CDS Mutation	c.2792dupT
AA Mutation	p.Gln932ProfsTer14(p.Q932Pfs*14)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	70
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000406316
Start	50552666:50552667(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.1679_1680insA
AA Mutation	p.Ile561TyrfsTer12(p.I561Yfs*12)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> NRXN1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000406316
Start	50623429:50623429(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1019T>G
AA Mutation	p.Val340Gly(p.V340G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000406316
Start	49922219:49922219(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4159T>C
AA Mutation	p.Tyr1387His(p.Y1387H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000406316
Start	51027725:51027725(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.549G>T
AA Mutation	p.Trp183Cys(p.W183C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000406316
Start	50623552:50623552(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.896A>T
AA Mutation	p.Asn299Ile(p.N299I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000406316
Start	50538342:50538342(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2054G>A
AA Mutation	p.Cys685Tyr(p.C685Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000406316
Start	49922081:49922081(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4297T>C
AA Mutation	p.Tyr1433His(p.Y1433H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000406316
Start	50506600:50506600(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2392C>A
AA Mutation	p.Leu798Ile(p.L798I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000406316
Start	50620140:50620140(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs796052764
CDS Mutation	c.1202C>T
AA Mutation	p.Thr401Met(p.T401M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000406316
Start	50472376:50472376(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3166G>T
AA Mutation	p.Val1056Phe(p.V1056F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000406316
Start	50472404:50472404(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3138A>T
AA Mutation	p.Lys1046Asn(p.K1046N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000406316
Start	50236845:50236845(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201881725
CDS Mutation	c.3490G>A
AA Mutation	p.Val1164Ile(p.V1164I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000406316
Start	50053445:50053445(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201464255
CDS Mutation	c.3864C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000406316
Start	51027782:51027782(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.492C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000406316
Start	50552801:50552801(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs745993564
CDS Mutation	c.1545C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000406316
Start	49922220:49922220(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs151195816
CDS Mutation	c.4158G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000406316
Start	49922004:49922004(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4374C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000406316
Start	50623566:50623566(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs200464704
CDS Mutation	c.882C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000406316
Start	51027821:51027821(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs774821523
CDS Mutation	c.453C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000406316
Start	50552720:50552720(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1626T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	stop_gained
Transcription ID	ENST00000406316
Start	50552832:50552832(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1514C>A
AA Mutation	p.Ser505Ter(p.S505*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript