MYLK2 non-truncating variants in ExAC

MYLK2 variants in DCM

The table below lists the MYLK2 non-truncating variants found in the ExAC population database with a mean allelic frequency (MAF) less than 0.0001, classified for this study as a rare variant. Click on each variant for more details, including presence in the 1000 Genomes and Exome Sequencing Project databases, a breakdown by ethnic class and the variant's role in inherited cardiac disease. Use the form below to customise the variant selection. The table can be sorted by variant location, variant type or ExAC frequency.

No.	Genomic coord.✝	Variant (CDS)▼	Variant (Protein)	Variant Type▼	ExAC frequency▼	Populations*
1.	30407433	c.50C>A	p.T17K	missense	0.00009749	●●●●●●
2.	30418650	c.1253C>T	p.T418I	missense	0.00009061	●●●●●●
3.	30419884	c.1655G>A	p.R552Q	missense	0.00008019	●●●●●●
4.	30408103	c.227C>T	p.P76L	missense	0.00007562	●●●●●●
5.	30414622	c.1105G>A	p.E369K	missense	0.00007428	●●●●●●
6.	30419855	c.1626C>A	p.N542K	missense	0.00006852	●●●●●●
7.	30408067	c.191G>C	p.G64A	missense	0.00006663	●●●●●●
8.	30421575	c.1766G>A	p.G589E	missense	0.00006624	●●●●●●
9.	30418652	c.1255G>A	p.G419R	missense	0.00006590	●●●●●●
10.	30408063	c.187G>T	p.D63Y	missense	0.00005826	●●●●●●
11.	30408033	c.157G>A	p.D53N	missense	0.00005812	●●●●●●
12.	30408010	c.134C>T	p.P45L	missense	0.00005810	●●●●●●
13.	30414640	c.1123G>A	p.D375N	missense	0.00005773	●●●●●●
14.	30408169	c.293C>T	p.P98L	missense	0.00005169	●●●●●●
15.	30408243	c.367C>T	p.P123S	missense	0.00005140	●●●●●●
16.	30409292	c.524C>A	p.T175N	missense	0.00004979	●●●●●●
17.	30409325	c.557C>T	p.T186M	missense	0.00004974	●●●●●●
18.	30414454	c.1019G>A	p.R340H	missense	0.00004945	●●●●●●
19.	30407435	c.52G>C	p.D18H	missense	0.00004878	●●●●●●
20.	30407433	c.50C>T	p.T17I	missense	0.00004875	●●●●●●
21.	30407388	c.5C>A	p.A2E	missense	0.00004839	●●●●●●
22.	30412106	c.923G>A	p.G308D	missense	0.00004643	●●●●●●
23.	30419878	c.1649G>A	p.C550Y	missense	0.00004592	●●●●●●
24.	30419932	c.1703G>A	p.R568H	missense	0.00004491	●●●●●●
25.	30408339	c.463A>T	p.I155F	missense	0.00004342	●●●●●●
26.	30408301	c.425G>T	p.G142V	missense	0.00004305	●●●●●●
27.	30408298	c.422G>A	p.R141K	missense	0.00004302	●●●●●●
28.	30408099	c.223G>A	p.G75S	missense	0.00004197	●●●●●●
29.	30414694	c.1177G>A	p.G393R	missense	0.00004123	●●●●●●
30.	30418829	c.1309G>A	p.E437K	missense	0.00004120	●●●●●●
31.	30412068	c.885G>C	p.K295N	missense	0.00003803	●●●●●●
32.	30419874	c.1645C>T	p.R549C	missense	0.00003457	●●●●●●
33.	30408181	c.305C>T	p.A102V	missense	0.00003444	●●●●●●
34.	30419877	c.1648T>G	p.C550G	missense	0.00003441	●●●●●●
35.	30408198	c.322G>A	p.V108I	missense	0.00003434	●●●●●●
36.	30409363	c.595A>G	p.I199V	missense	0.00003310	●●●●●●
37.	30414490	c.1055C>T	p.P352L	missense	0.00003297	●●●●●●
38.	30419525	c.1444T>G	p.F482V	missense	0.00003296	●●●●●●
39.	30419615	c.1534G>A	p.E512K	missense	0.00003295	●●●●●●
40.	30419532	c.1451G>A	p.G484E	missense	0.00003295	●●●●●●
41.	30419827	c.1598A>G	p.Q533R	missense	0.00003260	●●●●●●
42.	30412134	c.951G>C	p.K317N	missense	0.00003002	●●●●●●
43.	30408135	c.259G>A	p.A87T	missense	0.00002574	●●●●●●
44.	30411289	c.782C>T	p.P261L	missense	0.00002507	●●●●●●
45.	30421595	c.1786G>T	p.V596F	missense	0.00002495	●●●●●●
46.	30409279	c.511G>A	p.A171T	missense	0.00002494	●●●●●●
47.	30409292	c.524C>T	p.T175I	missense	0.00002490	●●●●●●
48.	30409330	c.562C>T	p.P188S	missense	0.00002487	●●●●●●
49.	30421577	c.1768G>T	p.A590S	missense	0.00002484	●●●●●●
50.	30409370	c.602C>T	p.A201V	missense	0.00002482	●●●●●●
51.	30409374	c.606G>C	p.E202D	missense	0.00002482	●●●●●●
52.	30409445	c.677G>C	p.R226T	missense	0.00002480	●●●●●●
53.	30421556	c.1747_1749delAAG	p.K583del1	inframe	0.00002476	●●●●●●
54.	30421550	c.1741C>T	p.R581C	missense	0.00002475	●●●●●●
55.	30418689	c.1292G>A	p.R431Q	missense	0.00002472	●●●●●●
56.	30419591	c.1510G>C	p.E504Q	missense	0.00002471	●●●●●●
57.	30419575	c.1494C>A	p.N498K	missense	0.00002471	●●●●●●
58.	30419886	c.1657C>T	p.R553C	missense	0.00002288	●●●●●●
59.	30419851	c.1622A>G	p.N541S	missense	0.00002277	●●●●●●
60.	30419929	c.1700G>A	p.R567K	missense	0.00002243	●●●●●●
61.	30419835	c.1606G>A	p.A536T	missense	0.00002237	●●●●●●
62.	30419820	c.1591G>A	p.A531T	missense	0.00002147	●●●●●●
63.	30412126	c.943G>A	p.V315I	missense	0.00001950	●●●●●●
64.	30408339	c.463A>G	p.I155V	missense	0.00001737	●●●●●●
65.	30408162	c.286G>A	p.A96T	missense	0.00001725	●●●●●●
66.	30408279	c.403G>C	p.G135R	missense	0.00001717	●●●●●●
67.	30408271	c.395C>T	p.A132V	missense	0.00001716	●●●●●●
68.	30408213	c.337G>T	p.A113S	missense	0.00001716	●●●●●●
69.	30408240	c.364G>C	p.D122H	missense	0.00001713	●●●●●●
70.	30408126	c.250G>A	p.G84R	missense	0.00001711	●●●●●●
71.	30408119	c.243C>G	p.D81E	missense	0.00001704	●●●●●●
72.	30408102	c.226C>T	p.P76S	missense	0.00001680	●●●●●●
73.	30409487	c.719T>C	p.V240A	missense	0.00001667	●●●●●●
74.	30408069	c.193A>G	p.T65A	missense	0.00001666	●●●●●●
75.	30409483	c.715G>A	p.E239K	missense	0.00001664	●●●●●●
76.	30408060	c.184G>A	p.G62R	missense	0.00001664	●●●●●●
77.	30409280	c.512C>A	p.A171E	missense	0.00001662	●●●●●●
78.	30407973	c.97G>C	p.G33R	missense	0.00001659	●●●●●●
79.	30409472	c.704C>T	p.S235L	missense	0.00001658	●●●●●●
80.	30409340	c.572C>T	p.A191V	missense	0.00001657	●●●●●●
81.	30411336	c.829G>A	p.G277R	missense	0.00001655	●●●●●●
82.	30409367	c.599T>C	p.L200P	missense	0.00001655	●●●●●●
83.	30409453	c.685G>A	p.E229K	missense	0.00001654	●●●●●●
84.	30414604	c.1087G>A	p.E363K	missense	0.00001652	●●●●●●
85.	30409430	c.662A>G	p.Q221R	missense	0.00001652	●●●●●●
86.	30421548	c.1739A>T	p.N580I	missense	0.00001650	●●●●●●
87.	30414629	c.1112T>C	p.I371T	missense	0.00001650	●●●●●●
88.	30419645	c.1564G>A	p.V522I	missense	0.00001647	●●●●●●
89.	30419615	c.1534G>C	p.E512Q	missense	0.00001647	●●●●●●
90.	30419595	c.1514C>T	p.T505I	missense	0.00001647	●●●●●●
91.	30419880	c.1651A>G	p.N551D	missense	0.00001145	●●●●●●
92.	30419887	c.1658G>A	p.R553H	missense	0.00001143	●●●●●●
93.	30419854	c.1625A>G	p.N542S	missense	0.00001141	●●●●●●
94.	30419932	c.1703G>T	p.R568L	missense	0.00001123	●●●●●●
95.	30419901	c.1672A>C	p.I558L	missense	0.00001123	●●●●●●
96.	30419916	c.1687T>C	p.Y563H	missense	0.00001117	●●●●●●
97.	30419811	c.1582C>T	p.R528W	missense	0.00001052	●●●●●●
98.	30412108	c.925C>T	p.L309F	missense	0.00000932	●●●●●●
99.	30412102	c.919A>G	p.T307A	missense	0.00000924	●●●●●●
100.	30412091	c.908T>C	p.M303T	missense	0.00000920	●●●●●●
101.	30409527	c.759C>G	p.C253W	missense	0.00000873	●●●●●●
102.	30408320	c.444T>G	p.H148Q	missense	0.00000864	●●●●●●
103.	30408318	c.442C>G	p.H148D	missense	0.00000863	●●●●●●
104.	30408153	c.277C>T	p.P93S	missense	0.00000863	●●●●●●
105.	30408153	c.277C>A	p.P93T	missense	0.00000863	●●●●●●
106.	30408163	c.287C>T	p.A96V	missense	0.00000862	●●●●●●
107.	30408306	c.430C>T	p.P144S	missense	0.00000861	●●●●●●
108.	30408294	c.418A>T	p.R140W	missense	0.00000860	●●●●●●
109.	30408144	c.268A>G	p.S90G	missense	0.00000859	●●●●●●
110.	30408280	c.404G>A	p.G135D	missense	0.00000858	●●●●●●
111.	30408274	c.398C>T	p.A133V	missense	0.00000858	●●●●●●
112.	30408212	c.336G>T	p.K112N	missense	0.00000858	●●●●●●
113.	30408259	c.383T>A	p.V128E	missense	0.00000857	●●●●●●
114.	30408249	c.373A>G	p.K125E	missense	0.00000857	●●●●●●
115.	30408250	c.374A>T	p.K125M	missense	0.00000857	●●●●●●
116.	30408132	c.256C>G	p.P86A	missense	0.00000857	●●●●●●
117.	30408247	c.371G>A	p.G124E	missense	0.00000857	●●●●●●
118.	30408257	c.381G>T	p.R127S	missense	0.00000857	●●●●●●
119.	30409511	c.743C>T	p.A248V	missense	0.00000855	●●●●●●
120.	30408115	c.239G>T	p.G80V	missense	0.00000848	●●●●●●
121.	30409247	c.479A>G	p.E160G	missense	0.00000840	●●●●●●
122.	30408097	c.221A>G	p.Q74R	missense	0.00000839	●●●●●●
123.	30408097	c.221A>C	p.Q74P	missense	0.00000839	●●●●●●
124.	30407933	c.57G>C	p.K19N	missense	0.00000833	●●●●●●
125.	30408063	c.187G>C	p.D63H	missense	0.00000832	●●●●●●
126.	30407938	c.62C>A	p.P21H	missense	0.00000832	●●●●●●
127.	30408043	c.167C>T	p.A56V	missense	0.00000831	●●●●●●
128.	30408043	c.167C>A	p.A56D	missense	0.00000831	●●●●●●
129.	30407944	c.68G>A	p.G23D	missense	0.00000831	●●●●●●
130.	30411315	c.808C>T	p.R270C	missense	0.00000831	●●●●●●
131.	30408043	c.167C>G	p.A56G	missense	0.00000831	●●●●●●
132.	30407953	c.77G>A	p.G26D	missense	0.00000831	●●●●●●
133.	30407952	c.76G>T	p.G26C	missense	0.00000831	●●●●●●
134.	30411316	c.809G>A	p.R270H	missense	0.00000830	●●●●●●
135.	30408022	c.146C>T	p.T49I	missense	0.00000830	●●●●●●
136.	30407961	c.85C>A	p.P29T	missense	0.00000830	●●●●●●
137.	30407986	c.110G>A	p.G37D	missense	0.00000830	●●●●●●
138.	30408025	c.149T>G	p.L50R	missense	0.00000830	●●●●●●
139.	30407970	c.94G>T	p.A32S	missense	0.00000830	●●●●●●
140.	30407989	c.113C>A	p.P38H	missense	0.00000830	●●●●●●
141.	30408037	c.161C>A	p.A54D	missense	0.00000830	●●●●●●
142.	30408001	c.125A>G	p.K42R	missense	0.00000830	●●●●●●
143.	30411318	c.811A>C	p.M271L	missense	0.00000830	●●●●●●
144.	30407982	c.106C>T	p.P36S	missense	0.00000830	●●●●●●
145.	30411321	c.814G>A	p.V272M	missense	0.00000829	●●●●●●
146.	30409319	c.551G>A	p.S184N	missense	0.00000829	●●●●●●
147.	30411320	c.813G>T	p.M271I	missense	0.00000829	●●●●●●
148.	30409304	c.536T>G	p.V179G	missense	0.00000829	●●●●●●
149.	30421583	c.1774A>G	p.M592V	missense	0.00000829	●●●●●●
150.	30411378	c.871C>T	p.L291F	missense	0.00000828	●●●●●●
151.	30411382	c.875G>A	p.G292E	missense	0.00000828	●●●●●●
152.	30409469	c.701C>G	p.P234R	missense	0.00000828	●●●●●●
153.	30409353	c.585A>C	p.E195D	missense	0.00000828	●●●●●●
154.	30411345	c.838A>T	p.S280C	missense	0.00000827	●●●●●●
155.	30411349	c.842G>C	p.S281T	missense	0.00000827	●●●●●●
156.	30409400	c.632C>A	p.T211N	missense	0.00000826	●●●●●●
157.	30409442	c.674C>T	p.S225L	missense	0.00000826	●●●●●●
158.	30414610	c.1093G>A	p.G365R	missense	0.00000826	●●●●●●
159.	30409426	c.658A>G	p.M220V	missense	0.00000826	●●●●●●
160.	30409439	c.671C>G	p.T224S	missense	0.00000826	●●●●●●
161.	30421565	c.1756A>G	p.S586G	missense	0.00000826	●●●●●●
162.	30414611	c.1094G>T	p.G365V	missense	0.00000826	●●●●●●
163.	30409390	c.622G>A	p.G208R	missense	0.00000826	●●●●●●
164.	30414410	c.975A>C	p.E325D	missense	0.00000826	●●●●●●
165.	30414414	c.979G>A	p.V327M	missense	0.00000825	●●●●●●
166.	30414715	c.1198A>G	p.M400V	missense	0.00000825	●●●●●●
167.	30421521	c.1712A>G	p.K571R	missense	0.00000825	●●●●●●
168.	30421530	c.1721T>C	p.I574T	missense	0.00000825	●●●●●●
169.	30414614	c.1097A>G	p.E366G	missense	0.00000825	●●●●●●
170.	30414652	c.1135A>G	p.T379A	missense	0.00000825	●●●●●●
171.	30414459	c.1024C>G	p.L342V	missense	0.00000824	●●●●●●
172.	30414453	c.1018C>A	p.R340S	missense	0.00000824	●●●●●●
173.	30419639	c.1558C>G	p.L520V	missense	0.00000824	●●●●●●
174.	30419561	c.1480G>A	p.V494I	missense	0.00000824	●●●●●●
175.	30414511	c.1076T>C	p.M359T	missense	0.00000824	●●●●●●
176.	30419603	c.1522G>A	p.A508T	missense	0.00000824	●●●●●●
177.	30419586	c.1505A>G	p.D502G	missense	0.00000824	●●●●●●
178.	30418853	c.1333A>T	p.T445S	missense	0.00000824	●●●●●●
179.	30414664	c.1147A>G	p.T383A	missense	0.00000824	●●●●●●
180.	30414472	c.1037A>G	p.Y346C	missense	0.00000824	●●●●●●
181.	30419622	c.1541A>G	p.K514R	missense	0.00000824	●●●●●●
182.	30419565	c.1484T>G	p.L495R	missense	0.00000824	●●●●●●
183.	30419560	c.1479C>A	p.N493K	missense	0.00000824	●●●●●●
184.	30418823	c.1303C>T	p.P435S	missense	0.00000824	●●●●●●
185.	30414436	c.1001T>G	p.M334R	missense	0.00000824	●●●●●●
186.	30414688	c.1171T>C	p.C391R	missense	0.00000824	●●●●●●
187.	30419595	c.1514C>G	p.T505S	missense	0.00000824	●●●●●●
188.	30419618	c.1537G>A	p.A513T	missense	0.00000824	●●●●●●
189.	30418923	c.1403T>C	p.M468T	missense	0.00000824	●●●●●●
190.	30414684	c.1167G>C	p.Q389H	missense	0.00000824	●●●●●●
191.	30414490	c.1055C>G	p.P352R	missense	0.00000824	●●●●●●
192.	30414457	c.1022A>G	p.N341S	missense	0.00000824	●●●●●●
193.	30419561	c.1480G>C	p.V494L	missense	0.00000824	●●●●●●
194.	30418626	c.1229A>G	p.E410G	missense	0.00000824	●●●●●●
195.	30414453	c.1018C>T	p.R340C	missense	0.00000824	●●●●●●
196.	30419538	c.1457A>G	p.D486G	missense	0.00000824	●●●●●●
197.	30414480	c.1045A>T	p.I349F	missense	0.00000824	●●●●●●
198.	30419631	c.1550T>C	p.V517A	missense	0.00000824	●●●●●●
199.	30414685	c.1168A>G	p.I390V	missense	0.00000824	●●●●●●
200.	30414501	c.1066G>A	p.V356I	missense	0.00000824	●●●●●●
201.	30419578	c.1497G>T	p.W499C	missense	0.00000824	●●●●●●
202.	30418881	c.1361T>C	p.V454A	missense	0.00000824	●●●●●●
203.	30418853	c.1333A>G	p.T445A	missense	0.00000824	●●●●●●

* This highlights the relative frequency of the variant in the ExAC populations - Non-Finnish European, African, East Asian, South Asian, American and Finnish. Higher frequencies are denoted by darker shades of green, variants absent in a population are coloured light gray.

✝ Genomic coordinates refer to the GRCh37 release of the human genome.