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

* 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.