PMID: 27930701

Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.

PloS one
O Sanchez, O Campuzano, A Fernández-Falgueras, G Sarquella-Brugada, S Cesar, I Mademont, J Mates, A Pérez-Serra, M Coll, F Pico, A Iglesias, C Tirón, C Allegue, E Carro, MÁ Gallego, C Ferrer-Costa, A Hospital, N Bardalet, JC Borondo, A Vingut, E Arbelo, J Brugada, J Castellà, J Medallo, R Brugada
2016

258 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
2-179419353-C-T TTN c.81017G>A p.Arg27006His Missense 281/312 -
14-23862646-C-A MYH6 c.3010G>T p.Ala1004Ser Missense 23/39 -
2-179659933-C-T TTN c.961G>A p.Val321Ile Missense 7/312 -
1-116269620-G-A CASQ2 c.730C>T p.His244Tyr Missense 6/11 -
2-179600475-C-T TTN c.10966G>A p.Ala3656Thr Missense 47/312 -
1-237947931-C-T RYR2 c.12919C>T p.Arg4307Cys Missense 90/105 -
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 -
2-179523753-G-A TTN c.31720C>T p.Pro10574Ser Missense 155/312 -
2-179407285-G-T TTN c.89494C>A p.Pro29832Thr Missense 298/312 -
11-74168563-C-T KCNE3 c.46G>A p.Ala16Thr Missense 3/3 -
18-29121188-G-A DSG2 c.1912G>A p.Gly638Arg Missense 13/15 -
7-150648724-A-G KCNH2 c.1757T>C p.Leu586Pro Missense 7/15 -
11-19213986-A-G CSRP3 c.10T>C p.Trp4Arg Missense 2/6 -
15-63351838-G-A TPM1 c.451G>A p.Ala151Thr Missense 4/9 -
12-32994013-G-T PKP2 c.1637C>A p.Ala546Glu Missense 7/14 -
3-38662376-C-T SCN5A c.569G>A p.Arg190Gln Missense 5/28 -
2-179567340-G-A TTN c.26542C>T p.His8848Tyr Missense 104/312 -
4-114269433-A-G ANK2 c.4373A>G p.Glu1458Gly Missense 36/46 -
1-237821259-G-T RYR2 c.8145G>T p.Glu2715Asp Missense 54/105 -
15-48779506-T-C FBN1 c.3463+3A>G - IntronicSNV - 28/65
11-47364155-T-C MYBPC3 c.1598A>G p.Gln533Arg Missense 17/35 -
2-179587955-G-T TTN c.18047C>A p.Ser6016Tyr Missense 72/312 -
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 -
14-23891399-G-A MYH7 c.3235C>T p.Arg1079Trp Missense 25/40 -
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 -
2-179560597-T-C TTN c.27470A>G p.Tyr9157Cys Missense 111/312 -
15-48704816-G-A FBN1 c.8176C>T p.Arg2726Trp Missense 65/66 -
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 -
11-2610034-C-G KCNQ1 c.1343C>G p.Pro448Arg Missense 10/16 -
15-48766499-C-T FBN1 c.4163G>A p.Arg1388His Missense 34/66 -
X-32404572-T-C DMD c.4529A>G p.Lys1510Arg Missense 33/79 -
3-52485524-C-T TNNC1 c.337G>A p.Asp113Asn Missense 5/6 -
2-179397418-GGAG-G TTN c.96220_96222delCCT p.Pro32074delPro InFrameDeletion 307/312 -
6-7567688-T-C DSP c.1140+6T>C - IntronicSNV - 9/23
14-23889398-C-T MYH7 c.3382G>A p.Ala1128Thr Missense 27/40 -
2-179648807-C-T TTN c.2765G>A p.Arg922His Missense 16/312 -
2-179435964-T-G TTN c.67191A>C p.Gln22397His Missense 275/312 -
2-179640598-C-T TTN c.5993G>A p.Arg1998His Missense 28/312 -
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 -
2-179556748-G-T TTN c.28025C>A p.Pro9342Gln Missense 118/312 -
2-179639041-C-T TTN c.6950G>A p.Arg2317His Missense 30/312 -
18-28648084-G-A DSC2 c.*105C>T - 3_prime_UTR_variant 17/17 -
12-2786373-G-A CACNA1C c.4942G>A p.Ala1648Thr Missense 40/47 -
15-73615634-G-A HCN4 c.2800C>T p.Arg934Cys Missense 8/8 -
10-75863601-A-T VCL c.2046A>T p.Leu682Phe Missense 15/21 -
15-73616224-T-C HCN4 c.2210A>G p.Gln737Arg Missense 8/8 -
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 -
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 -
15-48888508-G-A FBN1 c.510C>T p.Tyr170Tyr Synonymous 6/66 -
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 -
1-237617790-C-A RYR2 c.1392C>A p.His464Gln Missense 15/105 -
12-32996158-G-A PKP2 c.1468C>T p.Arg490Trp Missense 6/14 -
14-76447140-C-T TGFB3 c.97G>A p.Gly33Ser Missense 1/7 -
3-38645249-C-T SCN5A c.1844G>A p.Gly615Glu Missense 12/28 -
3-38591853-A-G SCN5A c.6010T>C p.Phe2004Leu Missense 28/28 -
7-150648671-C-T KCNH2 c.1810G>A p.Gly604Ser Missense 7/15 -
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 -
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 -
2-179428313-A-T TTN c.74842T>A p.Trp24948Arg Missense 275/312 -
14-23873967-C-T MYH6 c.595G>A p.Ala199Thr Missense 7/39 -
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 -
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 -
6-7583093-G-C DSP c.5598G>C p.Gln1866His Missense 24/24 -
2-179453288-G-A TTN c.55460C>T p.Pro18487Leu Missense 253/312 -
15-73615982-C-T HCN4 c.2452G>A p.Gly818Ser Missense 8/8 -
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 -
4-114278616-GC-CA ANK2 c.8842_8843delGCinsCA p.Ala2948Gln Missense 38/46 -
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 -
12-32975500-C-A PKP2 c.1872G>T p.Glu624Asp Missense 9/14 -
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 -
4-114203997-A-G ANK2 c.2048A>G p.Asp683Gly Missense 18/46 -
2-179406993-A-G TTN c.89786T>C p.Ile29929Thr Missense 298/312 -
11-47354471-C-G MYBPC3 c.3384G>C p.Glu1128Asp Missense 31/35 -
18-29104840-A-G DSG2 c.1003A>G p.Thr335Ala Missense 8/15 -
4-114277146-A-T ANK2 c.7372A>T p.Ser2458Cys Missense 38/46 -
2-179634424-C-T TTN c.8884G>A p.Ala2962Thr Missense 37/312 -
2-179542393-C-CA TTN c.30513_30514insT p.Glu10172*fs*1 Nonsense 143/312 -
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 -
11-74168569-G-T KCNE3 c.40C>A p.Leu14Met Missense 3/3 -
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 -
3-38663985-G-T SCN5A c.393-5C>A - IntronicSNV - 3/27
3-38645238-G-A SCN5A c.1855C>T p.Leu619Phe Missense 12/28 -
12-2797857-G-A CACNA1C c.6029G>A p.Arg2010Lys Missense 46/47 -
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 -
2-179407042-C-T TTN c.89737G>A p.Gly29913Arg Missense 298/312 -
15-73615704-G-T HCN4 c.2730C>A p.Phe910Leu Missense 8/8 -
4-114278542-A-G ANK2 c.8768A>G p.Gln2923Arg Missense 38/46 -
2-179438480-C-T TTN c.64675G>A p.Glu21559Lys Missense 275/312 -
2-179569426-T-C TTN c.26041A>G p.Ile8681Val Missense 102/312 -
2-179428960-C-T TTN c.74195G>A p.Arg24732His Missense 275/312 -
2-179469502-C-T TTN c.46610G>A p.Arg15537His Missense 230/312 -
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 -
2-179480172-C-T TTN c.40796G>A p.Arg13599Gln Missense 208/312 -
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 -
12-33049482-G-T PKP2 c.184C>A p.Gln62Lys Missense 1/14 -
2-179418865-A-G TTN c.81269T>C p.Ile27090Thr Missense 282/312 -
3-38616924-G-C SCN5A c.3530C>G p.Pro1177Arg Missense 20/28 -
2-179602945-C-G TTN c.10503G>C p.Lys3501Asn Missense 46/312 -
12-2794993-C-T CACNA1C c.5665C>T p.Arg1889Cys Missense 44/47 -
2-179594430-C-T TTN c.14818G>A p.Ala4940Thr Missense 60/312 -
17-68172409-A-G KCNJ2 c.1229A>G p.Asn410Ser Missense 2/2 -
12-2794993-C-A CACNA1C c.5665C>A p.Arg1889Ser 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 -
2-179577929-C-G TTN c.23200G>C p.Asp7734His Missense 90/312 -
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 -
2-179434795-T-C TTN c.68360A>G p.His22787Arg Missense 275/312 -
2-179455902-C-T TTN c.52846G>A p.Val17616Ile Missense 253/312 -
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 -
6-7580795-C-G DSP c.4372C>G p.Arg1458Gly Missense 23/24 -
12-2675728-A-G CACNA1C c.1649A>G p.Asn550Ser Missense 12/47 -
15-48782072-T-C FBN1 c.3058A>G p.Thr1020Ala Missense 25/66 -
2-179560597-T-G TTN c.27470A>C p.Tyr9157Ser Missense 111/312 -
3-32188128-G-A GPD1L c.520G>A p.Glu174Lys Missense 5/8 -
15-48829846-C-T FBN1 c.698G>A p.Arg233His Missense 7/66 -
4-114274686-A-G ANK2 c.4912A>G p.Asn1638Asp Missense 38/46 -
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 -
3-38645378-G-T SCN5A c.1715C>A p.Ala572Asp Missense 12/28 -
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 -
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 -
6-7542245-G-A DSP c.97G>A p.Gly33Ser Missense 1/24 -
2-179401033-T-C TTN c.92737A>G p.Ile30913Val Missense 306/312 -
2-179406305-G-T TTN c.89795C>A p.Pro29932His Missense 299/312 -
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 -
11-47363546-C-T MYBPC3 c.1786G>A p.Gly596Arg Missense 18/35 -
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 -
2-179449606-C-T TTN c.57058G>A p.Gly19020Arg Missense 259/312 -
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 -
2-179664416-C-A TTN c.712G>T p.Glu238* Nonsense 6/312 -
X-31497213-T-C DMD c.8555A>G p.Lys2852Arg Missense 58/79 -
2-179466171-T-C TTN c.47849A>G p.Lys15950Arg Missense 236/312 -
15-48808532-G-C FBN1 c.1175C>G p.Pro392Arg Missense 11/66 -
2-179399677-C-T TTN c.93961G>A p.Val31321Ile Missense 307/312 -
2-179648516-G-T TTN c.2776-4C>A - IntronicSNV - 16/311
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 -
2-179410276-C-G TTN c.87857G>C p.Trp29286Ser Missense 293/312 -
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 -
2-220284873-G-A DES c.635G>A p.Arg212Gln Missense 2/9 -
7-150644799-G-A KCNH2 c.2860C>T p.Arg954Cys Missense 12/15 -
18-28654748-C-A DSC2 c.1789G>T p.Val597Phe Missense 12/17 -
2-179547491-A-T TTN c.29295T>A p.Tyr9765* Nonsense 132/312 -
2-179467316-A-C TTN c.47109T>G p.Phe15703Leu Missense 232/312 -
2-179408585-C-T TTN c.88582G>A p.Ala29528Thr Missense 295/312 -
2-179666871-C-T TTN c.289G>A p.Val97Met Missense 3/312 -
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 -
2-179650768-G-A TTN c.2177C>T p.Ser726Phe Missense 14/312 -
2-179641172-G-T TTN c.5419C>A p.Pro1807Thr Missense 28/312 -
7-151478406-C-T PRKAG2 c.298G>A p.Gly100Ser Missense 3/16 -
2-179419366-T-C TTN c.81004A>G p.Ile27002Val Missense 281/312 -
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 -
2-179588159-C-T TTN c.17936G>A p.Arg5979His Missense 71/312 -
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 -
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 -
20-42744690-C-T JPH2 c.1625G>A p.Arg542His Missense 4/6 -
11-47358995-GTTGACCGCGTA-G MYBPC3 c.2539_2549del11 p.Tyr847Argfs*33 Frameshift 25/35 -
3-38648173-C-T SCN5A c.1127G>A p.Arg376His Missense 9/28 -
2-179482994-G-A TTN c.39487C>T p.Arg13163Cys Missense 201/312 -
1-237550653-A-G RYR2 c.649A>G p.Ile217Val Missense 9/105 -
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 -
3-38595935-C-G SCN5A c.4648G>C p.Asp1550His Missense 27/28 -
3-38648158-A-G SCN5A c.1140+2T>C - IntronicSNV - 9/27
2-179593296-C-T TTN c.15625G>A p.Gly5209Ser Missense 63/312 -
14-23885287-T-A MYH7 c.4879A>T p.Ile1627Phe Missense 34/40 -
3-38646298-T-G SCN5A c.1440A>C p.Lys480Asn Missense 11/28 -
6-7566616-A-G DSP c.946A>G p.Met316Val Missense 8/24 -
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 -
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 -
6-7579822-C-G DSP c.3399C>G p.Asp1133Glu Missense 23/24 -
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 -
15-48744861-C-T FBN1 c.5443G>A p.Gly1815Ser Missense 45/66 -
4-114294471-T-C ANK2 c.11725T>C p.Ser3909Pro Missense 45/46 -
2-179632598-C-T TTN c.9359G>A p.Arg3120Gln Missense 40/312 -
4-114294537-G-A ANK2 c.11791G>A p.Glu3931Lys Missense 45/46 -
2-179410261-T-G TTN c.87872A>C p.Lys29291Thr Missense 293/312 -
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 -
2-179664293-G-A TTN c.835C>T p.Arg279Trp Missense 6/312 -
2-179391828-TT-T TTN c.100185delA p.Lys33395Asnfs*9 Frameshift 312/312 -
6-7565730-G-A DSP c.916G>A p.Ala306Thr Missense 7/24 -
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 -
2-179422481-C-G TTN c.79896G>C p.Met26632Ile Missense 277/312 -
2-179582913-C-T TTN c.21088G>A p.Glu7030Lys Missense 83/312 -
2-179665117-C-T TTN c.583+5G>A - IntronicSNV - 4/311
2-179577998-T-C TTN c.23131A>G p.Ile7711Val Missense 90/312 -
4-114278959-A-G ANK2 c.9185A>G p.Glu3062Gly Missense 38/46 -
1-201328373-G-A TNNT2 c.853C>T p.Arg285Cys Missense 16/16 -
2-179393344-T-G TTN c.99430A>C p.Asn33144His Missense 309/312 -
2-179404550-G-A TTN c.90538C>T p.Arg30180Cys Missense 301/312 -
4-114286254-G-C ANK2 c.10948G>C p.Glu3650Gln Missense 41/46 -
2-179643601-C-G TTN c.4208G>C p.Arg1403Thr Missense 24/312 -
2-179434477-A-G TTN c.68678T>C p.Ile22893Thr Missense 275/312 -
3-38592012-C-A SCN5A c.5851G>T p.Val1951Leu Missense 28/28 -
2-179446666-C-T TTN c.58726G>A p.Ala19576Thr Missense 264/312 -
15-73615496-C-T HCN4 c.2938G>A p.Gly980Arg Missense 8/8 -
2-179422669-G-T TTN c.79708C>A p.Pro26570Thr Missense 277/312 -
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 -
4-114278617-C-G ANK2 c.8843C>G p.Ala2948Gly Missense 38/46 -
1-237659896-G-A RYR2 c.2047G>A p.Glu683Lys Missense 20/105 -
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 -
1-237758826-T-C RYR2 c.4465T>C p.Cys1489Arg Missense 34/105 -
2-179459377-C-T TTN c.50144-4G>A - IntronicSNV - 244/311