Colon Cancer: Gene >> DNAH5

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13871736:13871736(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3426A>T
AA Mutation	p.Lys1142Asn(p.K1142N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13753370:13753370(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.10735C>A
AA Mutation	p.Gln3579Lys(p.Q3579K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13809162:13809162(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.7634G>A
AA Mutation	p.Arg2545His(p.R2545H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13883069:13883069(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3009G>T
AA Mutation	p.Lys1003Asn(p.K1003N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13920607:13920607(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs749610202
CDS Mutation	c.671G>A
AA Mutation	p.Arg224Gln(p.R224Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13776654:13776654(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.9158C>T
AA Mutation	p.Ala3053Val(p.A3053V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13830147:13830147(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.6128C>T
AA Mutation	p.Ser2043Leu(p.S2043L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13882808:13882808(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3182T>C
AA Mutation	p.Ile1061Thr(p.I1061T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	coding_sequence_variant;3_prime_UTR_variant
Transcription ID	ENST00000265104
Start	13691971:13691994(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.13865_*13delATGTCAAGTAACATGTGGGGAGTG
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13735317:13735317(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.11575G>T
AA Mutation	p.Val3859Phe(p.V3859F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13766163:13766163(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.9914A>G
AA Mutation	p.Asp3305Gly(p.D3305G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13735290:13735290(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.11602A>G
AA Mutation	p.Ile3868Val(p.I3868V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13754211:13754211(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.10547G>T
AA Mutation	p.Arg3516Ile(p.R3516I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13769546:13769546(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.9675A>C
AA Mutation	p.Glu3225Asp(p.E3225D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13793943:13793943(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.8003G>A
AA Mutation	p.Gly2668Glu(p.G2668E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13867947:13867947(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3880G>A
AA Mutation	p.Glu1294Lys(p.E1294K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13920485:13920485(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs140576123
CDS Mutation	c.793G>A
AA Mutation	p.Glu265Lys(p.E265K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13928138:13928138(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs755574532
CDS Mutation	c.233G>A
AA Mutation	p.Arg78Gln(p.R78Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13811768:13811768(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.7286C>T
AA Mutation	p.Thr2429Ile(p.T2429I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13692129:13692129(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs759563638
CDS Mutation	c.13730G>A
AA Mutation	p.Arg4577Gln(p.R4577Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13752231:13752231(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.10931G>A
AA Mutation	p.Gly3644Glu(p.G3644E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13823331:13823331(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6619G>T
AA Mutation	p.Asp2207Tyr(p.D2207Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000265104
Start	13844992:13844992(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5116T>C
AA Mutation	p.Tyr1706His(p.Y1706H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13931142:13931142(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.160G>A
AA Mutation	p.Glu54Lys(p.E54K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13753448:13753448(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs754263109
CDS Mutation	c.10657C>T
AA Mutation	p.Arg3553Trp(p.R3553W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13708308:13708308(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.13153C>T
AA Mutation	p.Pro4385Ser(p.P4385S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13737479:13737479(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs774599183
CDS Mutation	c.11228G>T
AA Mutation	p.Arg3743Ile(p.R3743I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	28
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13867839:13867839(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3988G>A
AA Mutation	p.Glu1330Lys(p.E1330K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	29
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13885222:13885222(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2750G>T
AA Mutation	p.Arg917Ile(p.R917I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	30
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13714441:13714441(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.13089G>T
AA Mutation	p.Met4363Ile(p.M4363I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	31
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13810163:13810163(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.7505G>A
AA Mutation	p.Arg2502His(p.R2502H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	32
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13883022:13883022(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3056C>A
AA Mutation	p.Pro1019His(p.P1019H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	33
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13862731:13862731(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201165908
CDS Mutation	c.4613C>T
AA Mutation	p.Ala1538Val(p.A1538V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	34
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13700753:13700753(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.13610G>A
AA Mutation	p.Gly4537Asp(p.G4537D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	35
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13841735:13841735(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5441C>T
AA Mutation	p.Thr1814Ile(p.T1814I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	36
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13786273:13786273(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs756069405
CDS Mutation	c.8726G>A
AA Mutation	p.Arg2909His(p.R2909H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	37
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13917170:13917170(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1062T>G
AA Mutation	p.Cys354Trp(p.C354W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	38
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13716567:13716567(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.12829T>C
AA Mutation	p.Phe4277Leu(p.F4277L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	39
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13810184:13810184(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs768364281
CDS Mutation	c.7484C>T
AA Mutation	p.Ala2495Val(p.A2495V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	40
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13841066:13841066(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs777809376
CDS Mutation	c.5549A>C
AA Mutation	p.Lys1850Thr(p.K1850T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	41
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13692016:13692016(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs771613197
CDS Mutation	c.13843C>T
AA Mutation	p.Arg4615Cys(p.R4615C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	42
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13823310:13823310(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6640C>A
AA Mutation	p.Leu2214Met(p.L2214M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	43
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13885022:13885022(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs749683241
CDS Mutation	c.2950C>T
AA Mutation	p.Arg984Cys(p.R984C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	44
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13870945:13870945(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs73055857
CDS Mutation	c.3656G>A
AA Mutation	p.Arg1219His(p.R1219H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	45
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13735860:13735860(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs78346432
CDS Mutation	c.11528C>T
AA Mutation	p.Ser3843Leu(p.S3843L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	46
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13776525:13776525(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.9287G>A
AA Mutation	p.Arg3096Gln(p.R3096Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	47
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13721067:13721067(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs745403938
CDS Mutation	c.12212G>A
AA Mutation	p.Arg4071His(p.R4071H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	48
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13867920:13867920(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3907C>T
AA Mutation	p.His1303Tyr(p.H1303Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	49
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13817652:13817652(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs368441809
CDS Mutation	c.6884C>T
AA Mutation	p.Ala2295Val(p.A2295V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	50
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13839489:13839489(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5749C>G
AA Mutation	p.Leu1917Val(p.L1917V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	51
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13708185:13708185(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs777295839
CDS Mutation	c.13276G>A
AA Mutation	p.Glu4426Lys(p.E4426K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	52
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13753447:13753447(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs144393366
CDS Mutation	c.10658G>A
AA Mutation	p.Arg3553Gln(p.R3553Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	53
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13793622:13793622(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs199683491
CDS Mutation	c.8117T>C
AA Mutation	p.Met2706Thr(p.M2706T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	54
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13911487:13911487(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1543G>T
AA Mutation	p.Val515Leu(p.V515L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	55
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13885156:13885156(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs769689167
CDS Mutation	c.2816C>T
AA Mutation	p.Thr939Met(p.T939M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	56
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13824222:13824222(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs756444637
CDS Mutation	c.6556C>T
AA Mutation	p.Arg2186Trp(p.R2186W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	57
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13692102:13692102(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.13757T>C
AA Mutation	p.Ile4586Thr(p.I4586T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	58
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13850761:13850761(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5005G>A
AA Mutation	p.Ala1669Thr(p.A1669T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	59
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13883046:13883046(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs540368538
CDS Mutation	c.3032G>A
AA Mutation	p.Arg1011Gln(p.R1011Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	60
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13692120:13692120(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.13739G>A
AA Mutation	p.Arg4580Gln(p.R4580Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	61
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13735924:13735924(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs746375013
CDS Mutation	c.11464C>T
AA Mutation	p.Arg3822Trp(p.R3822W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	62
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13870825:13870825(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs532394572
CDS Mutation	c.3776C>T
AA Mutation	p.Ala1259Val(p.A1259V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	63
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13758956:13758956(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.10309C>A
AA Mutation	p.His3437Asn(p.H3437N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	64
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13708239:13708239(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs150046963
CDS Mutation	c.13222C>T
AA Mutation	p.Arg4408Cys(p.R4408C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	65
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13770833:13770833(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs757354117
CDS Mutation	c.9521C>T
AA Mutation	p.Thr3174Met(p.T3174M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	66
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13718893:13718893(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.12488G>T
AA Mutation	p.Arg4163Ile(p.R4163I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	67
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13865680:13865680(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4343A>C
AA Mutation	p.Glu1448Ala(p.E1448A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	68
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13876757:13876757(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3323A>C
AA Mutation	p.Lys1108Thr(p.K1108T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	69
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000265104
Start	13882814:13882814(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3176A>G
AA Mutation	p.Lys1059Arg(p.K1059R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	70
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13911397:13911397(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1633A>C
AA Mutation	p.Asn545His(p.N545H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	71
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13922180:13922180(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs773082738
CDS Mutation	c.587G>A
AA Mutation	p.Arg196His(p.R196H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	72
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13885151:13885151(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2821G>T
AA Mutation	p.Val941Phe(p.V941F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	73
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13786274:13786274(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs369744828
CDS Mutation	c.8725C>T
AA Mutation	p.Arg2909Cys(p.R2909C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	74
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13719007:13719007(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs370757783
CDS Mutation	c.12374C>T
AA Mutation	p.Ala4125Val(p.A4125V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	75
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13721203:13721203(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs776854779
CDS Mutation	c.12076G>A
AA Mutation	p.Glu4026Lys(p.E4026K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	76
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13830704:13830704(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5954G>A
AA Mutation	p.Gly1985Asp(p.G1985D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	77
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13841064:13841064(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5551T>C
AA Mutation	p.Phe1851Leu(p.F1851L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	78
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13718981:13718981(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs780100823
CDS Mutation	c.12400G>T
AA Mutation	p.Ala4134Ser(p.A4134S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	79
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13766136:13766136(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.9941G>C
AA Mutation	p.Arg3314Pro(p.R3314P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	80
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13919298:13919298(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.853G>A
AA Mutation	p.Ala285Thr(p.A285T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	81
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13701327:13701327(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs141828476
CDS Mutation	c.13448C>T
AA Mutation	p.Thr4483Met(p.T4483M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	82
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13770880:13770880(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.9474G>T
AA Mutation	p.Glu3158Asp(p.E3158D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	83
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13807700:13807700(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.7778G>A
AA Mutation	p.Gly2593Glu(p.G2593E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	84
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13876768:13876768(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3312G>T
AA Mutation	p.Lys1104Asn(p.K1104N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	85
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13900258:13900258(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2207C>A
AA Mutation	p.Thr736Asn(p.T736N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	86
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13776531:13776531(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.9281A>C
AA Mutation	p.Lys3094Thr(p.K3094T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	87
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13876751:13876751(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3329T>C
AA Mutation	p.Val1110Ala(p.V1110A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	88
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13810194:13810194(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.7474G>A
AA Mutation	p.Ala2492Thr(p.A2492T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	89
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13753246:13753246(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs547014532
CDS Mutation	c.10859G>A
AA Mutation	p.Arg3620Gln(p.R3620Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	90
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13776465:13776465(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs745557874
CDS Mutation	c.9347G>A
AA Mutation	p.Arg3116Gln(p.R3116Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	91
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13830169:13830169(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs768503312
CDS Mutation	c.6106C>T
AA Mutation	p.Arg2036Cys(p.R2036C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	92
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13717461:13717461(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs141993196
CDS Mutation	c.12559G>A
AA Mutation	p.Ala4187Thr(p.A4187T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	93
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000265104
Start	13714411:13714411(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.13119C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	94
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000265104
Start	13862706:13862706(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4638A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	95
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000265104
Start	13864514:13864514(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs747207334
CDS Mutation	c.4479G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	96
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000265104
Start	13867987:13867987(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3840T>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	97
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000265104
Start	13901483:13901483(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1821T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	98
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000265104
Start	13708309:13708309(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.13152G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	99
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000265104
Start	13865850:13865850(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4173T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	100
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000265104
Start	13919188:13919188(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.963G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	101
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000265104
Start	13862658:13862658(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs751766956
CDS Mutation	c.4686C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	102
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000265104
Start	13916384:13916384(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1161T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	103
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000265104
Start	13717456:13717456(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.12564G>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	104
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000265104
Start	13721150:13721150(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs779527506
CDS Mutation	c.12129G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	105
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000265104
Start	13770766:13770766(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.9588G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	106
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000265104
Start	13839376:13839376(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5862A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	107
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000265104
Start	13865841:13865841(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4182G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	108
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000265104
Start	13864574:13864574(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4419T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	109
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000265104
Start	13920537:13920537(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs374902528
CDS Mutation	c.741T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	110
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000265104
Start	13737427:13737427(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.11280A>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	111
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000265104
Start	13770799:13770799(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.9555T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	112
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000265104
Start	13766114:13766114(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs762184401
CDS Mutation	c.9963G>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	113
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000265104
Start	13769516:13769516(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs770064361
CDS Mutation	c.9705C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	114
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000265104
Start	13700758:13700758(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.13605C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	115
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000265104
Start	13735306:13735306(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs755874851
CDS Mutation	c.11586G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	116
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000265104
Start	13766130:13766130(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.9947delC
AA Mutation	p.Pro3316LeufsTer22(p.P3316Lfs*22)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	117
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000265104
Start	13830731:13830731(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.5927delG
AA Mutation	p.Gly1976GlufsTer78(p.G1976Efs*78)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	118
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000265104
Start	13919274:13919274(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.877delA
AA Mutation	p.Arg293AspfsTer12(p.R293Dfs*12)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	119
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000265104
Start	13721077:13721077(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.12202delA
AA Mutation	p.Ile4068Ter(p.I4068*)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	120
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000265104
Start	13776517:13776518(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.9294_9295delAG
AA Mutation	p.Arg3098SerfsTer14(p.R3098Sfs*14)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	121
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000265104
Start	13701317:13701317(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.13458delT
AA Mutation	p.Phe4486LeufsTer7(p.F4486Lfs*7)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	122
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000265104
Start	13864593:13864593(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.4400delT
AA Mutation	p.Leu1467TrpfsTer3(p.L1467Wfs*3)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	123
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000265104
Start	13841052:13841052(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.5563delA
AA Mutation	p.Ile1855SerfsTer16(p.I1855Sfs*16)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	124
Mutation Consequence	stop_gained
Transcription ID	ENST00000265104
Start	13692085:13692085(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs758112779
CDS Mutation	c.13774C>T
AA Mutation	p.Arg4592Ter(p.R4592*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	125
Mutation Consequence	stop_gained
Transcription ID	ENST00000265104
Start	13839462:13839462(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5776G>T
AA Mutation	p.Glu1926Ter(p.E1926*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	126
Mutation Consequence	stop_gained
Transcription ID	ENST00000265104
Start	13776577:13776577(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.9235C>T
AA Mutation	p.Arg3079Ter(p.R3079*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	127
Mutation Consequence	stop_gained
Transcription ID	ENST00000265104
Start	13864633:13864633(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs148139814
CDS Mutation	c.4360C>T
AA Mutation	p.Arg1454Ter(p.R1454*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	128
Mutation Consequence	stop_gained
Transcription ID	ENST00000265104
Start	13776466:13776466(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.9346C>T
AA Mutation	p.Arg3116Ter(p.R3116*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	129
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000265104
Start	13928154:13928155(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.216dupT
AA Mutation	p.Ala73CysfsTer37(p.A73Cfs*37)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	130
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000265104
Start	13780948:13780949(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.8831_8832insAAGAGAAATG
AA Mutation	p.Ile2945ArgfsTer76(p.I2945Rfs*76)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	131
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000265104
Start	13809188:13809188(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.7610-2A>C
Mutation Classification	Splice_Site
Feature Type	Transcript

Mutation ID	132
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000265104
Start	13876818:13876818(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3263-1G>T
Mutation Classification	Splice_Site
Feature Type	Transcript

Mutation ID	133
Mutation Consequence	splice_donor_variant
Transcription ID	ENST00000265104
Start	13911385:13911385(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1644+1G>A
Mutation Classification	Splice_Site
Feature Type	Transcript

Rectum Cancer: Gene >> DNAH5

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13717389:13717389(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs762673561
CDS Mutation	c.12631G>A
AA Mutation	p.Glu4211Lys(p.E4211K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13913859:13913859(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1420G>A
AA Mutation	p.Glu474Lys(p.E474K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13928171:13928171(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs563017861
CDS Mutation	c.200G>T
AA Mutation	p.Arg67Ile(p.R67I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13792035:13792035(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.8407G>A
AA Mutation	p.Gly2803Arg(p.G2803R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13829547:13829547(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs140690090
CDS Mutation	c.6407C>T
AA Mutation	p.Thr2136Met(p.T2136M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13717424:13717424(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs375694023
CDS Mutation	c.12596G>A
AA Mutation	p.Arg4199His(p.R4199H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13717371:13717371(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.12649T>A
AA Mutation	p.Phe4217Ile(p.F4217I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13717434:13717434(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.12586C>A
AA Mutation	p.Gln4196Lys(p.Q4196K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13913757:13913757(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1522G>A
AA Mutation	p.Ala508Thr(p.A508T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13811696:13811696(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.7358T>G
AA Mutation	p.Phe2453Cys(p.F2453C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13865798:13865798(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4225C>G
AA Mutation	p.Leu1409Val(p.L1409V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13864483:13864483(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4510G>T
AA Mutation	p.Gly1504Trp(p.G1504W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13769001:13769001(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs757897932
CDS Mutation	c.9856G>A
AA Mutation	p.Ala3286Thr(p.A3286T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13792053:13792053(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.8389C>T
AA Mutation	p.Leu2797Phe(p.L2797F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13793574:13793574(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.8165G>T
AA Mutation	p.Arg2722Met(p.R2722M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13830729:13830729(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs143894811
CDS Mutation	c.5929G>T
AA Mutation	p.Ala1977Ser(p.A1977S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13839501:13839501(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5737G>T
AA Mutation	p.Asp1913Tyr(p.D1913Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13867916:13867916(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3911A>G
AA Mutation	p.Tyr1304Cys(p.Y1304C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13870922:13870922(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3679A>G
AA Mutation	p.Ser1227Gly(p.S1227G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13871646:13871646(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3516G>T
AA Mutation	p.Gln1172His(p.Q1172H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13876768:13876768(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3312G>T
AA Mutation	p.Lys1104Asn(p.K1104N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13885027:13885027(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs200704983
CDS Mutation	c.2945G>A
AA Mutation	p.Arg982His(p.R982H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13920607:13920607(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs749610202
CDS Mutation	c.671G>A
AA Mutation	p.Arg224Gln(p.R224Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13923387:13923387(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.331C>A
AA Mutation	p.Pro111Thr(p.P111T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13766148:13766148(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.9929G>A
AA Mutation	p.Arg3310His(p.R3310H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13820439:13820439(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201285946
CDS Mutation	c.6748G>A
AA Mutation	p.Glu2250Lys(p.E2250K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000265104
Start	13792045:13792045(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.8397G>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	28
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000265104
Start	13770802:13770802(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.9552C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	29
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000265104
Start	13809176:13809176(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs541631905
CDS Mutation	c.7620G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	30
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000265104
Start	13830160:13830160(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.6115C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	31
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000265104
Start	13721090:13721090(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.12189G>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	32
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000265104
Start	13885104:13885104(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs767246326
CDS Mutation	c.2868C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	33
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000265104
Start	13830757:13830757(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5901T>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	34
Mutation Consequence	stop_gained
Transcription ID	ENST00000265104
Start	13885133:13885133(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2839G>T
AA Mutation	p.Glu947Ter(p.E947*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	35
Mutation Consequence	stop_gained
Transcription ID	ENST00000265104
Start	13717389:13717389(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.12631G>T
AA Mutation	p.Glu4211Ter(p.E4211*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	36
Mutation Consequence	stop_gained
Transcription ID	ENST00000265104
Start	13776461:13776461(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.9351G>A
AA Mutation	p.Trp3117Ter(p.W3117*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	37
Mutation Consequence	stop_gained
Transcription ID	ENST00000265104
Start	13777285:13777285(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.9022G>T
AA Mutation	p.Gly3008Ter(p.G3008*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	38
Mutation Consequence	stop_gained
Transcription ID	ENST00000265104
Start	13807674:13807674(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.7804G>T
AA Mutation	p.Gly2602Ter(p.G2602*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	39
Mutation Consequence	stop_gained
Transcription ID	ENST00000265104
Start	13769127:13769127(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.9730G>T
AA Mutation	p.Glu3244Ter(p.E3244*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	40
Mutation Consequence	stop_gained
Transcription ID	ENST00000265104
Start	13900406:13900406(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2059G>T
AA Mutation	p.Glu687Ter(p.E687*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript