2-179560597-T-C |
TTN |
c.27470A>G |
p.Tyr9157Cys |
Missense |
111/312 |
- |
15-48704816-G-A |
FBN1 |
c.8176C>T |
p.Arg2726Trp |
Missense |
65/66 |
- |
11-47360203-G-A |
MYBPC3 |
c.2176C>T |
p.Arg726Cys |
Missense |
23/35 |
- |
11-47364248-C-T |
MYBPC3 |
c.1505G>A |
p.Arg502Gln |
Missense |
17/35 |
- |
2-179442198-C-G |
TTN |
c.61160G>C |
p.Gly20387Ala |
Missense |
273/312 |
- |
14-23859386-C-G |
MYH6 |
c.3612G>C |
p.Glu1204Asp |
Missense |
26/39 |
- |
15-48766499-C-T |
FBN1 |
c.4163G>A |
p.Arg1388His |
Missense |
34/66 |
- |
14-23891399-G-A |
MYH7 |
c.3235C>T |
p.Arg1079Trp |
Missense |
25/40 |
- |
3-52485524-C-T |
TNNC1 |
c.337G>A |
p.Asp113Asn |
Missense |
5/6 |
- |
X-32404572-T-C |
DMD |
c.4529A>G |
p.Lys1510Arg |
Missense |
33/79 |
- |
14-23889398-C-T |
MYH7 |
c.3382G>A |
p.Ala1128Thr |
Missense |
27/40 |
- |
2-179397418-GGAG-G |
TTN |
c.96220_96222delCCT |
p.Pro32074delPro |
InFrameDeletion |
307/312 |
- |
11-2610034-C-G |
KCNQ1 |
c.1343C>G |
p.Pro448Arg |
Missense |
10/16 |
- |
6-7567688-T-C |
DSP |
c.1140+6T>C |
- |
IntronicSNV |
- |
9/23 |
2-179640598-C-T |
TTN |
c.5993G>A |
p.Arg1998His |
Missense |
28/312 |
- |
2-179435964-T-G |
TTN |
c.67191A>C |
p.Gln22397His |
Missense |
275/312 |
- |
2-179433046-C-G |
TTN |
c.70109G>C |
p.Trp23370Ser |
Missense |
275/312 |
- |
12-33031009-C-T |
PKP2 |
c.805G>A |
p.Gly269Arg |
Missense |
3/14 |
- |
2-179648807-C-T |
TTN |
c.2765G>A |
p.Arg922His |
Missense |
16/312 |
- |
2-179639041-C-T |
TTN |
c.6950G>A |
p.Arg2317His |
Missense |
30/312 |
- |
10-75863601-A-T |
VCL |
c.2046A>T |
p.Leu682Phe |
Missense |
15/21 |
- |
2-179556748-G-T |
TTN |
c.28025C>A |
p.Pro9342Gln |
Missense |
118/312 |
- |
12-2786373-G-A |
CACNA1C |
c.4942G>A |
p.Ala1648Thr |
Missense |
40/47 |
- |
18-28648084-G-A |
DSC2 |
c.*105C>T |
- |
3_prime_UTR_variant |
17/17 |
- |
15-73616224-T-C |
HCN4 |
c.2210A>G |
p.Gln737Arg |
Missense |
8/8 |
- |
15-48888508-G-A |
FBN1 |
c.510C>T |
p.Tyr170Tyr |
Synonymous |
6/66 |
- |
1-237617790-C-A |
RYR2 |
c.1392C>A |
p.His464Gln |
Missense |
15/105 |
- |
14-23859570-C-T |
MYH6 |
c.3428G>A |
p.Arg1143Gln |
Missense |
26/39 |
- |
2-179428840-A-T |
TTN |
c.74315T>A |
p.Ile24772Lys |
Missense |
275/312 |
- |
3-8787313-C-G |
CAV3 |
c.216C>G |
p.Cys72Trp |
Missense |
2/2 |
- |
1-237730032-A-G |
RYR2 |
c.3380A>G |
p.Glu1127Gly |
Missense |
28/105 |
- |
14-76447140-C-T |
TGFB3 |
c.97G>A |
p.Gly33Ser |
Missense |
1/7 |
- |
12-32996158-G-A |
PKP2 |
c.1468C>T |
p.Arg490Trp |
Missense |
6/14 |
- |
10-18827151-G-A |
CACNB2 |
c.1180G>A |
p.Ala394Thr |
Missense |
12/13 |
- |
1-236918313-C-G |
ACTN2 |
c.1975-6C>G |
- |
IntronicSNV |
- |
16/20 |
2-179414539-A-G |
TTN |
c.84206T>C |
p.Met28069Thr |
Missense |
287/312 |
- |
10-75832578-C-T |
VCL |
c.590C>T |
p.Thr197Ile |
Missense |
5/21 |
- |
15-73615634-G-A |
HCN4 |
c.2800C>T |
p.Arg934Cys |
Missense |
8/8 |
- |
7-150648671-C-T |
KCNH2 |
c.1810G>A |
p.Gly604Ser |
Missense |
7/15 |
- |
3-38645249-C-T |
SCN5A |
c.1844G>A |
p.Gly615Glu |
Missense |
12/28 |
- |
1-236918328-C-T |
ACTN2 |
c.1984C>T |
p.Arg662Trp |
Missense |
17/21 |
- |
3-38674795-C-T |
SCN5A |
c.4G>A |
p.Ala2Thr |
Missense |
2/28 |
- |
3-38591853-A-G |
SCN5A |
c.6010T>C |
p.Phe2004Leu |
Missense |
28/28 |
- |
2-179428313-A-T |
TTN |
c.74842T>A |
p.Trp24948Arg |
Missense |
275/312 |
- |
2-179393803-C-G |
TTN |
c.98971G>C |
p.Glu32991Gln |
Missense |
309/312 |
- |
4-114095645-G-C |
ANK2 |
c.158G>C |
p.Gly53Ala |
Missense |
2/46 |
- |
12-32975500-C-A |
PKP2 |
c.1872G>T |
p.Glu624Asp |
Missense |
9/14 |
- |
2-179585187-C-T |
TTN |
c.19570G>A |
p.Asp6524Asn |
Missense |
77/312 |
- |
3-38592809-T-A |
SCN5A |
c.5054A>T |
p.Glu1685Val |
Missense |
28/28 |
- |
7-150645550-G-A |
KCNH2 |
c.2674C>T |
p.Arg892Cys |
Missense |
11/15 |
- |
21-35742799-A-G |
KCNE2 |
c.22A>G |
p.Thr8Ala |
Missense |
2/2 |
- |
6-7583093-G-C |
DSP |
c.5598G>C |
p.Gln1866His |
Missense |
24/24 |
- |
2-179428778-G-C |
TTN |
c.74377C>G |
p.Pro24793Ala |
Missense |
275/312 |
- |
4-114290816-G-C |
ANK2 |
c.11465G>C |
p.Gly3822Ala |
Missense |
43/46 |
- |
11-47354471-C-G |
MYBPC3 |
c.3384G>C |
p.Glu1128Asp |
Missense |
31/35 |
- |
2-179453288-G-A |
TTN |
c.55460C>T |
p.Pro18487Leu |
Missense |
253/312 |
- |
2-179472202-T-A |
TTN |
c.45509A>T |
p.Asp15170Val |
Missense |
226/312 |
- |
2-179499525-C-G |
TTN |
c.34372G>C |
p.Val11458Leu |
Missense |
178/312 |
- |
2-179474623-C-G |
TTN |
c.43823G>C |
p.Gly14608Ala |
Missense |
221/312 |
- |
2-179406993-A-G |
TTN |
c.89786T>C |
p.Ile29929Thr |
Missense |
298/312 |
- |
2-179414177-G-A |
TTN |
c.84472C>T |
p.Pro28158Ser |
Missense |
288/312 |
- |
11-47372979-G-A |
MYBPC3 |
c.103C>T |
p.Arg35Trp |
Missense |
2/35 |
- |
14-76429835-A-G |
TGFB3 |
c.755-5T>C |
- |
IntronicSNV |
- |
4/6 |
2-179440571-C-T |
TTN |
c.62584G>A |
p.Val20862Ile |
Missense |
275/312 |
- |
15-73615982-C-T |
HCN4 |
c.2452G>A |
p.Gly818Ser |
Missense |
8/8 |
- |
4-114278616-GC-CA |
ANK2 |
c.8842_8843delGCinsCA |
p.Ala2948Gln |
Missense |
38/46 |
- |
4-114203997-A-G |
ANK2 |
c.2048A>G |
p.Asp683Gly |
Missense |
18/46 |
- |
14-23873967-C-T |
MYH6 |
c.595G>A |
p.Ala199Thr |
Missense |
7/39 |
- |
4-114277146-A-T |
ANK2 |
c.7372A>T |
p.Ser2458Cys |
Missense |
38/46 |
- |
18-29104840-A-G |
DSG2 |
c.1003A>G |
p.Thr335Ala |
Missense |
8/15 |
- |
2-179634424-C-T |
TTN |
c.8884G>A |
p.Ala2962Thr |
Missense |
37/312 |
- |
2-179586645-G-C |
TTN |
c.19013C>G |
p.Ser6338Cys |
Missense |
75/312 |
- |
2-220285587-A-C |
DES |
c.935A>C |
p.Asp312Ala |
Missense |
5/9 |
- |
11-47359047-C-T |
MYBPC3 |
c.2497G>A |
p.Ala833Thr |
Missense |
25/35 |
- |
15-73615704-G-T |
HCN4 |
c.2730C>A |
p.Phe910Leu |
Missense |
8/8 |
- |
2-179407042-C-T |
TTN |
c.89737G>A |
p.Gly29913Arg |
Missense |
298/312 |
- |
2-179438480-C-T |
TTN |
c.64675G>A |
p.Glu21559Lys |
Missense |
275/312 |
- |
4-114278542-A-G |
ANK2 |
c.8768A>G |
p.Gln2923Arg |
Missense |
38/46 |
- |
2-179590133-C-G |
TTN |
c.17066G>C |
p.Gly5689Ala |
Missense |
68/312 |
- |
6-7585897-G-A |
DSP |
c.8402G>A |
p.Arg2801His |
Missense |
24/24 |
- |
2-179569426-T-C |
TTN |
c.26041A>G |
p.Ile8681Val |
Missense |
102/312 |
- |
11-74168569-G-T |
KCNE3 |
c.40C>A |
p.Leu14Met |
Missense |
3/3 |
- |
2-179469502-C-T |
TTN |
c.46610G>A |
p.Arg15537His |
Missense |
230/312 |
- |
2-179428960-C-T |
TTN |
c.74195G>A |
p.Arg24732His |
Missense |
275/312 |
- |
3-30713834-G-A |
TGFBR2 |
c.1234G>A |
p.Val412Met |
Missense |
5/8 |
- |
15-48739022-A-G |
FBN1 |
c.5672-3T>C |
- |
IntronicSNV |
- |
46/65 |
7-150644718-T-C |
KCNH2 |
c.2941A>G |
p.Ser981Gly |
Missense |
12/15 |
- |
2-179590565-G-C |
TTN |
c.16752C>G |
p.Ile5584Met |
Missense |
67/312 |
- |
2-179587646-G-A |
TTN |
c.18248C>T |
p.Thr6083Met |
Missense |
73/312 |
- |
12-2797857-G-A |
CACNA1C |
c.6029G>A |
p.Arg2010Lys |
Missense |
46/47 |
- |
3-38663985-G-T |
SCN5A |
c.393-5C>A |
- |
IntronicSNV |
- |
3/27 |
15-48936884-T-C |
FBN1 |
c.83A>G |
p.Asn28Ser |
Missense |
2/66 |
- |
14-23883089-T-C |
MYH7 |
c.5669A>G |
p.Asn1890Ser |
Missense |
39/40 |
- |
12-2797637-C-T |
CACNA1C |
c.5809C>T |
p.Pro1937Ser |
Missense |
46/47 |
- |
2-179480172-C-T |
TTN |
c.40796G>A |
p.Arg13599Gln |
Missense |
208/312 |
- |
3-38645238-G-A |
SCN5A |
c.1855C>T |
p.Leu619Phe |
Missense |
12/28 |
- |
12-33049482-G-T |
PKP2 |
c.184C>A |
p.Gln62Lys |
Missense |
1/14 |
- |
2-179542393-C-CA |
TTN |
c.30513_30514insT |
p.Glu10172*fs*1 |
Nonsense |
143/312 |
- |
3-38616924-G-C |
SCN5A |
c.3530C>G |
p.Pro1177Arg |
Missense |
20/28 |
- |
2-179418865-A-G |
TTN |
c.81269T>C |
p.Ile27090Thr |
Missense |
282/312 |
- |
2-179594430-C-T |
TTN |
c.14818G>A |
p.Ala4940Thr |
Missense |
60/312 |
- |
2-179602945-C-G |
TTN |
c.10503G>C |
p.Lys3501Asn |
Missense |
46/312 |
- |
4-114274686-A-G |
ANK2 |
c.4912A>G |
p.Asn1638Asp |
Missense |
38/46 |
- |
17-68172409-A-G |
KCNJ2 |
c.1229A>G |
p.Asn410Ser |
Missense |
2/2 |
- |
12-2794993-C-T |
CACNA1C |
c.5665C>T |
p.Arg1889Cys |
Missense |
44/47 |
- |
2-179412783-A-T |
TTN |
c.85866T>A |
p.Asn28622Lys |
Missense |
288/312 |
- |
11-47354175-C-A |
MYBPC3 |
c.3569G>T |
p.Arg1190Leu |
Missense |
32/35 |
- |
2-179588654-A-G |
TTN |
c.17600T>C |
p.Met5867Thr |
Missense |
70/312 |
- |
3-52485773-G-T |
TNNC1 |
c.304C>A |
p.Arg102Ser |
Missense |
4/6 |
- |
2-179560597-T-G |
TTN |
c.27470A>C |
p.Tyr9157Ser |
Missense |
111/312 |
- |
15-48829846-C-T |
FBN1 |
c.698G>A |
p.Arg233His |
Missense |
7/66 |
- |
2-179434795-T-C |
TTN |
c.68360A>G |
p.His22787Arg |
Missense |
275/312 |
- |
12-2794993-C-A |
CACNA1C |
c.5665C>A |
p.Arg1889Ser |
Missense |
44/47 |
- |
3-32188128-G-A |
GPD1L |
c.520G>A |
p.Glu174Lys |
Missense |
5/8 |
- |
2-179455902-C-T |
TTN |
c.52846G>A |
p.Val17616Ile |
Missense |
253/312 |
- |
6-7580795-C-G |
DSP |
c.4372C>G |
p.Arg1458Gly |
Missense |
23/24 |
- |
2-179427119-T-C |
TTN |
c.76036A>G |
p.Thr25346Ala |
Missense |
275/312 |
- |
X-31854852-C-T |
DMD |
c.7183G>A |
p.Ala2395Thr |
Missense |
49/79 |
- |
7-151265933-G-A |
PRKAG2 |
c.1107-5C>T |
- |
IntronicSNV |
- |
10/15 |
2-179426079-T-G |
TTN |
c.77076A>C |
p.Glu25692Asp |
Missense |
275/312 |
- |
2-179473074-G-C |
TTN |
c.44832C>G |
p.Asn14944Lys |
Missense |
224/312 |
- |
14-23889167-C-T |
MYH7 |
c.3613G>A |
p.Glu1205Lys |
Missense |
27/40 |
- |
2-179449606-C-T |
TTN |
c.57058G>A |
p.Gly19020Arg |
Missense |
259/312 |
- |
12-2675728-A-G |
CACNA1C |
c.1649A>G |
p.Asn550Ser |
Missense |
12/47 |
- |
2-179428789-G-C |
TTN |
c.74366C>G |
p.Thr24789Arg |
Missense |
275/312 |
- |
2-179539088-TTCT-T |
TTN |
c.30760_30762delGAA |
p.Glu10254delGlu |
InFrameDeletion |
146/312 |
- |
6-7542245-G-A |
DSP |
c.97G>A |
p.Gly33Ser |
Missense |
1/24 |
- |
2-179442784-C-G |
TTN |
c.60754G>C |
p.Ala20252Pro |
Missense |
271/312 |
- |
11-47367887-C-T |
MYBPC3 |
c.961G>A |
p.Val321Met |
Missense |
12/35 |
- |
15-73615352-G-C |
HCN4 |
c.3082C>G |
p.Pro1028Ala |
Missense |
8/8 |
- |
12-2566782-G-A |
CACNA1C |
c.667G>A |
p.Ala223Thr |
Missense |
5/47 |
- |
4-114290677-A-G |
ANK2 |
c.11326A>G |
p.Thr3776Ala |
Missense |
43/46 |
- |
15-48782072-T-C |
FBN1 |
c.3058A>G |
p.Thr1020Ala |
Missense |
25/66 |
- |
2-179577929-C-G |
TTN |
c.23200G>C |
p.Asp7734His |
Missense |
90/312 |
- |
3-38645378-G-T |
SCN5A |
c.1715C>A |
p.Ala572Asp |
Missense |
12/28 |
- |
2-179398195-C-G |
TTN |
c.95443G>C |
p.Glu31815Gln |
Missense |
307/312 |
- |
10-18823130-G-A |
CACNB2 |
c.1015G>A |
p.Val339Ile |
Missense |
10/13 |
- |
2-179406305-G-T |
TTN |
c.89795C>A |
p.Pro29932His |
Missense |
299/312 |
- |
2-179401033-T-C |
TTN |
c.92737A>G |
p.Ile30913Val |
Missense |
306/312 |
- |
2-179641014-C-A |
TTN |
c.5577G>T |
p.Arg1859Ser |
Missense |
28/312 |
- |
12-2797713-G-A |
CACNA1C |
c.5885G>A |
p.Arg1962Gln |
Missense |
46/47 |
- |
2-179479607-G-A |
TTN |
c.41023C>T |
p.Pro13675Ser |
Missense |
209/312 |
- |
17-37822029-C-G |
TCAP |
c.171C>G |
p.Cys57Trp |
Missense |
2/2 |
- |
2-179426596-C-T |
TTN |
c.76559G>A |
p.Ser25520Asn |
Missense |
275/312 |
- |
2-179410276-C-G |
TTN |
c.87857G>C |
p.Trp29286Ser |
Missense |
293/312 |
- |
2-179664416-C-A |
TTN |
c.712G>T |
p.Glu238* |
Nonsense |
6/312 |
- |
1-156106995-G-A |
LMNA |
c.1580G>A |
p.Arg527His |
Missense |
9/12 |
- |
10-75860740-A-G |
VCL |
c.1907A>G |
p.His636Arg |
Missense |
14/21 |
- |
4-114251439-G-A |
ANK2 |
c.2938G>A |
p.Ala980Thr |
Missense |
27/46 |
- |
2-179466171-T-C |
TTN |
c.47849A>G |
p.Lys15950Arg |
Missense |
236/312 |
- |
X-31497213-T-C |
DMD |
c.8555A>G |
p.Lys2852Arg |
Missense |
58/79 |
- |
7-150644799-G-A |
KCNH2 |
c.2860C>T |
p.Arg954Cys |
Missense |
12/15 |
- |
2-220284873-G-A |
DES |
c.635G>A |
p.Arg212Gln |
Missense |
2/9 |
- |
2-179547491-A-T |
TTN |
c.29295T>A |
p.Tyr9765* |
Nonsense |
132/312 |
- |
18-28654748-C-A |
DSC2 |
c.1789G>T |
p.Val597Phe |
Missense |
12/17 |
- |
2-179467316-A-C |
TTN |
c.47109T>G |
p.Phe15703Leu |
Missense |
232/312 |
- |
15-48808532-G-C |
FBN1 |
c.1175C>G |
p.Pro392Arg |
Missense |
11/66 |
- |
2-179648516-G-T |
TTN |
c.2776-4C>A |
- |
IntronicSNV |
- |
16/311 |
2-179399677-C-T |
TTN |
c.93961G>A |
p.Val31321Ile |
Missense |
307/312 |
- |
20-42744690-C-T |
JPH2 |
c.1625G>A |
p.Arg542His |
Missense |
4/6 |
- |
2-179666871-C-T |
TTN |
c.289G>A |
p.Val97Met |
Missense |
3/312 |
- |
7-151478406-C-T |
PRKAG2 |
c.298G>A |
p.Gly100Ser |
Missense |
3/16 |
- |
2-179641172-G-T |
TTN |
c.5419C>A |
p.Pro1807Thr |
Missense |
28/312 |
- |
2-179419366-T-C |
TTN |
c.81004A>G |
p.Ile27002Val |
Missense |
281/312 |
- |
2-179588159-C-T |
TTN |
c.17936G>A |
p.Arg5979His |
Missense |
71/312 |
- |
10-75842257-C-A |
VCL |
c.829C>A |
p.Leu277Met |
Missense |
7/21 |
- |
10-75842257-C-T |
VCL |
c.829C>T |
p.Leu277Leu |
Synonymous |
7/21 |
- |
11-47363546-C-T |
MYBPC3 |
c.1786G>A |
p.Gly596Arg |
Missense |
18/35 |
- |
2-179425453-G-C |
TTN |
c.77702C>G |
p.Ser25901Cys |
Missense |
275/312 |
- |
2-179557257-T-C |
TTN |
c.27913A>G |
p.Ile9305Val |
Missense |
117/312 |
- |
2-179408585-C-T |
TTN |
c.88582G>A |
p.Ala29528Thr |
Missense |
295/312 |
- |
2-179650768-G-A |
TTN |
c.2177C>T |
p.Ser726Phe |
Missense |
14/312 |
- |
2-179439154-A-G |
TTN |
c.64001T>C |
p.Ile21334Thr |
Missense |
275/312 |
- |
2-179466793-A-C |
TTN |
c.47501T>G |
p.Ile15834Ser |
Missense |
233/312 |
- |
10-88439193-G-A |
LDB3 |
c.163G>A |
p.Val55Ile |
Missense |
3/14 |
- |
18-29126524-T-A |
DSG2 |
c.3175T>A |
p.Ser1059Thr |
Missense |
15/15 |
- |
3-30713834-G-T |
TGFBR2 |
c.1234G>T |
p.Val412Leu |
Missense |
5/8 |
- |
1-237550653-A-G |
RYR2 |
c.649A>G |
p.Ile217Val |
Missense |
9/105 |
- |
3-38648173-C-T |
SCN5A |
c.1127G>A |
p.Arg376His |
Missense |
9/28 |
- |
12-33031203-C-T |
PKP2 |
c.611G>A |
p.Arg204His |
Missense |
3/14 |
- |
2-179452470-C-A |
TTN |
c.55862G>T |
p.Gly18621Val |
Missense |
255/312 |
- |
2-179482994-G-A |
TTN |
c.39487C>T |
p.Arg13163Cys |
Missense |
201/312 |
- |
2-179632598-C-T |
TTN |
c.9359G>A |
p.Arg3120Gln |
Missense |
40/312 |
- |
7-151262818-C-A |
PRKAG2 |
c.1387G>T |
p.Val463Leu |
Missense |
12/16 |
- |
2-179413540-C-G |
TTN |
c.85109G>C |
p.Arg28370Thr |
Missense |
288/312 |
- |
12-2797746-G-A |
CACNA1C |
c.5918G>A |
p.Arg1973Gln |
Missense |
46/47 |
- |
11-47358995-GTTGACCGCGTAG-G |
MYBPC3 |
c.2539_2550del12 |
p.Tyr847_asn850del |
InFrameDeletion |
25/35 |
- |
3-38648158-A-G |
SCN5A |
c.1140+2T>C |
- |
IntronicSNV |
- |
9/27 |
14-23885287-T-A |
MYH7 |
c.4879A>T |
p.Ile1627Phe |
Missense |
34/40 |
- |
15-48744861-C-T |
FBN1 |
c.5443G>A |
p.Gly1815Ser |
Missense |
45/66 |
- |
11-47358995-GTTGACCGCGTA-G |
MYBPC3 |
c.2539_2549del11 |
p.Tyr847Argfs*33 |
Frameshift |
25/35 |
- |
4-114294471-T-C |
ANK2 |
c.11725T>C |
p.Ser3909Pro |
Missense |
45/46 |
- |
3-38595935-C-G |
SCN5A |
c.4648G>C |
p.Asp1550His |
Missense |
27/28 |
- |
2-179593296-C-T |
TTN |
c.15625G>A |
p.Gly5209Ser |
Missense |
63/312 |
- |
6-7579822-C-G |
DSP |
c.3399C>G |
p.Asp1133Glu |
Missense |
23/24 |
- |
3-38646298-T-G |
SCN5A |
c.1440A>C |
p.Lys480Asn |
Missense |
11/28 |
- |
2-179412628-C-T |
TTN |
c.86021G>A |
p.Arg28674His |
Missense |
288/312 |
- |
3-38592012-C-T |
SCN5A |
c.5851G>A |
p.Val1951Met |
Missense |
28/28 |
- |
X-32408204-T-C |
DMD |
c.4328A>G |
p.Gln1443Arg |
Missense |
31/79 |
- |
6-7566616-A-G |
DSP |
c.946A>G |
p.Met316Val |
Missense |
8/24 |
- |
4-114294537-G-A |
ANK2 |
c.11791G>A |
p.Glu3931Lys |
Missense |
45/46 |
- |
1-201328373-G-A |
TNNT2 |
c.853C>T |
p.Arg285Cys |
Missense |
16/16 |
- |
2-179588813-C-T |
TTN |
c.17441G>A |
p.Gly5814Asp |
Missense |
70/312 |
- |
2-179588867-C-A |
TTN |
c.17387G>T |
p.Arg5796Leu |
Missense |
70/312 |
- |
2-179391828-TT-T |
TTN |
c.100185delA |
p.Lys33395Asnfs*9 |
Frameshift |
312/312 |
- |
2-179582913-C-T |
TTN |
c.21088G>A |
p.Glu7030Lys |
Missense |
83/312 |
- |
2-179577998-T-C |
TTN |
c.23131A>G |
p.Ile7711Val |
Missense |
90/312 |
- |
2-179665117-C-T |
TTN |
c.583+5G>A |
- |
IntronicSNV |
- |
4/311 |
15-48720553-G-C |
FBN1 |
c.6987C>G |
p.Asp2329Glu |
Missense |
57/66 |
- |
2-179456501-T-G |
TTN |
c.52341A>C |
p.Glu17447Asp |
Missense |
252/312 |
- |
7-150648035-A-G |
KCNH2 |
c.2119T>C |
p.Tyr707His |
Missense |
8/15 |
- |
6-7565730-G-A |
DSP |
c.916G>A |
p.Ala306Thr |
Missense |
7/24 |
- |
2-179664293-G-A |
TTN |
c.835C>T |
p.Arg279Trp |
Missense |
6/312 |
- |
2-179410261-T-G |
TTN |
c.87872A>C |
p.Lys29291Thr |
Missense |
293/312 |
- |
2-179422481-C-G |
TTN |
c.79896G>C |
p.Met26632Ile |
Missense |
277/312 |
- |
4-114278959-A-G |
ANK2 |
c.9185A>G |
p.Glu3062Gly |
Missense |
38/46 |
- |
2-179404550-G-A |
TTN |
c.90538C>T |
p.Arg30180Cys |
Missense |
301/312 |
- |
X-32305661-T-C |
DMD |
c.6275A>G |
p.Tyr2092Cys |
Missense |
43/79 |
- |
6-7583992-G-A |
DSP |
c.6497G>A |
p.Arg2166Gln |
Missense |
24/24 |
- |
2-179643601-C-G |
TTN |
c.4208G>C |
p.Arg1403Thr |
Missense |
24/312 |
- |
1-237659896-G-A |
RYR2 |
c.2047G>A |
p.Glu683Lys |
Missense |
20/105 |
- |
3-38592012-C-A |
SCN5A |
c.5851G>T |
p.Val1951Leu |
Missense |
28/28 |
- |
4-114286254-G-C |
ANK2 |
c.10948G>C |
p.Glu3650Gln |
Missense |
41/46 |
- |
4-114278617-C-G |
ANK2 |
c.8843C>G |
p.Ala2948Gly |
Missense |
38/46 |
- |
2-179434477-A-G |
TTN |
c.68678T>C |
p.Ile22893Thr |
Missense |
275/312 |
- |
2-179446666-C-T |
TTN |
c.58726G>A |
p.Ala19576Thr |
Missense |
264/312 |
- |
2-179459377-C-T |
TTN |
c.50144-4G>A |
- |
IntronicSNV |
- |
244/311 |
4-114276922-C-T |
ANK2 |
c.7148C>T |
p.Pro2383Leu |
Missense |
38/46 |
- |
12-32994058-A-C |
PKP2 |
c.1592T>G |
p.Ile531Ser |
Missense |
7/14 |
- |
15-73615496-C-T |
HCN4 |
c.2938G>A |
p.Gly980Arg |
Missense |
8/8 |
- |
1-237758826-T-C |
RYR2 |
c.4465T>C |
p.Cys1489Arg |
Missense |
34/105 |
- |
2-179422669-G-T |
TTN |
c.79708C>A |
p.Pro26570Thr |
Missense |
277/312 |
- |
2-179393344-T-G |
TTN |
c.99430A>C |
p.Asn33144His |
Missense |
309/312 |
- |
2-179419353-C-T |
TTN |
c.81017G>A |
p.Arg27006His |
Missense |
281/312 |
- |
2-179659933-C-T |
TTN |
c.961G>A |
p.Val321Ile |
Missense |
7/312 |
- |
14-23862646-C-A |
MYH6 |
c.3010G>T |
p.Ala1004Ser |
Missense |
23/39 |
- |
1-116269620-G-A |
CASQ2 |
c.730C>T |
p.His244Tyr |
Missense |
6/11 |
- |
1-237821259-G-T |
RYR2 |
c.8145G>T |
p.Glu2715Asp |
Missense |
54/105 |
- |
2-179600475-C-T |
TTN |
c.10966G>A |
p.Ala3656Thr |
Missense |
47/312 |
- |
1-116247824-C-T |
CASQ2 |
c.928G>A |
p.Asp310Asn |
Missense |
9/11 |
- |
6-7558389-G-A |
DSP |
c.314G>A |
p.Arg105Gln |
Missense |
3/24 |
- |
1-237947931-C-T |
RYR2 |
c.12919C>T |
p.Arg4307Cys |
Missense |
90/105 |
- |
2-179407285-G-T |
TTN |
c.89494C>A |
p.Pro29832Thr |
Missense |
298/312 |
- |
2-179523753-G-A |
TTN |
c.31720C>T |
p.Pro10574Ser |
Missense |
155/312 |
- |
11-74168563-C-T |
KCNE3 |
c.46G>A |
p.Ala16Thr |
Missense |
3/3 |
- |
15-63351838-G-A |
TPM1 |
c.451G>A |
p.Ala151Thr |
Missense |
4/9 |
- |
11-19213986-A-G |
CSRP3 |
c.10T>C |
p.Trp4Arg |
Missense |
2/6 |
- |
3-38662376-C-T |
SCN5A |
c.569G>A |
p.Arg190Gln |
Missense |
5/28 |
- |
12-32994013-G-T |
PKP2 |
c.1637C>A |
p.Ala546Glu |
Missense |
7/14 |
- |
4-114269433-A-G |
ANK2 |
c.4373A>G |
p.Glu1458Gly |
Missense |
36/46 |
- |
15-48779506-T-C |
FBN1 |
c.3463+3A>G |
- |
IntronicSNV |
- |
28/65 |
2-179599473-C-T |
TTN |
c.11446G>A |
p.Val3816Ile |
Missense |
48/312 |
- |
3-38592808-C-A |
SCN5A |
c.5055G>T |
p.Glu1685Asp |
Missense |
28/28 |
- |
7-150648724-A-G |
KCNH2 |
c.1757T>C |
p.Leu586Pro |
Missense |
7/15 |
- |
18-29121188-G-A |
DSG2 |
c.1912G>A |
p.Gly638Arg |
Missense |
13/15 |
- |
2-179567340-G-A |
TTN |
c.26542C>T |
p.His8848Tyr |
Missense |
104/312 |
- |
2-179587955-G-T |
TTN |
c.18047C>A |
p.Ser6016Tyr |
Missense |
72/312 |
- |
11-47364155-T-C |
MYBPC3 |
c.1598A>G |
p.Gln533Arg |
Missense |
17/35 |
- |