PMID: 36906579

Recapitulating thyroid cancer histotypes through engineering embryonic stem cells.

Nature communications
Veschi, Veronica V, Turdo, Alice A, Modica, Chiara C, Verona, Francesco F, Di Franco, Simone S, Gaggianesi, Miriam M, TirrĂ², Elena E, Di Bella, Sebastiano S, Iacono, Melania Lo ML, Pantina, Vincenzo Davide VD, Porcelli, Gaetana G, Mangiapane, Laura Rosa LR, Bianca, Paola P, Rizzo, Aroldo A, Sciacca, Elisabetta E, Pillitteri, Irene I, Vella, Veronica V, Belfiore, Antonino A, Bongiorno, Maria Rita MR, Pistone, Giuseppe G, Memeo, Lorenzo L, Colarossi, Lorenzo L, Giuffrida, Dario D, Colarossi, Cristina C, Vigneri, Paolo P, Todaro, Matilde M, Stassi, Giorgio G
2023-03-11

10065 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
13-49033844-C-T RB1 c.1981C>T p.R661W Missense 20/27 -
7-55242470-T-C EGFR c.2240T>C p.L747S Missense 19/28 -
5-112116592-C-T APC c.637C>T p.R213* Nonsense 6/16 -
6-35436598-CT-GC RPL10A c.28_29delCTinsGC p.L10A Missense 2/6 -
10-43609949-G-A RET c.1901G>A p.C634Y Missense 11/20 -
7-140453155-C-T BRAF c.1780G>A p.D594N Missense 15/18 -
1-115256528-T-A NRAS c.183A>T p.Q61H Missense 3/7 -
1-115256528-T-G NRAS c.183A>C p.Q61H Missense 3/7 -
1-115256530-G-T NRAS c.181C>A p.Q61K Missense 3/7 -
1-115256529-T-A NRAS c.182A>T p.Q61L Missense 3/7 -
1-115256529-T-C NRAS c.182A>G p.Q61R Missense 3/7 -
7-140453136-AC-TT BRAF c.1798_1799delGTinsAA p.V600K Missense 15/18 -
17-7577120-C-T TP53 c.818G>A p.R273H Missense 8/11 -
12-25380275-T-A KRAS c.183A>T p.Q61H Missense 3/5 -
12-25380275-T-G KRAS c.183A>C p.Q61H Missense 3/5 -
17-7574018-G-A TP53 c.1009C>T p.R337C Missense 10/11 -
7-140453136-A-C BRAF c.1799T>G p.V600G Missense 15/18 -
10-89692905-G-A PTEN c.389G>A p.R130Q Missense 5/9 -
17-7577105-G-A TP53 c.833C>T p.P278L Missense 8/11 -
17-7577538-C-T TP53 c.743G>A p.R248Q Missense 7/11 -
17-7577539-G-A TP53 c.742C>T p.R248W Missense 7/11 -
1-43814979-G-A MPL c.1514G>A p.S505N Missense 10/12 -
17-7577094-G-A TP53 c.844C>T p.R282W Missense 8/11 -
5-137802809-C-G EGR1 c.671C>G p.A224G Missense 2/2 -
11-534289-C-T HRAS c.34G>A p.G12S Missense 2/6 -
12-25398279-C-T KRAS c.40G>A p.V14I Missense 2/5 -
7-140453134-T-C BRAF c.1801A>G p.K601E Missense 15/18 -
10-43617416-T-C RET c.2753T>C p.M918T Missense 16/20 -
17-7577548-C-T TP53 c.733G>A p.G245S Missense 7/11 -
22-30038263-G-A NF2 c.436G>A p.V146I Missense 4/16 -
1-100681607-A-G DBT c.704T>C p.M235T Missense 6/11 -
5-112174631-C-T APC c.3340C>T p.R1114* Nonsense 16/16 -
1-161140206-G-C PPOX c.995G>C p.G332A Missense 10/13 -
10-89692904-C-T PTEN c.388C>T p.R130* Nonsense 5/9 -
10-89717730-A-G PTEN c.755A>G p.D252G Missense 7/9 -
5-112175639-C-T APC c.4348C>T p.R1450* Nonsense 16/16 -
17-41251803-T-C BRCA1 c.536A>G p.Y179C Missense 7/23 -
10-96707689-G-A CYP2C9 c.635G>A p.W212* Nonsense 4/9 -
10-96707690-G-A CYP2C9 c.636G>A p.W212* Nonsense 4/9 -
3-10191507-G-A VHL c.500G>A p.R167Q Missense 3/3 -
3-10191506-C-T VHL c.499C>T p.R167W Missense 3/3 -
3-10191488-C-T VHL c.481C>T p.R161* Nonsense 3/3 -
9-21971120-G-A CDKN2A c.238C>T p.R80* Nonsense 2/3 -
17-7574017-C-T TP53 c.1010G>A p.R337H Missense 10/11 -
2-29432664-C-T ALK c.3824G>A p.R1275Q Missense 25/29 -
4-55593609-G-A KIT c.1675G>A p.V559I Missense 11/21 -
4-1803564-C-T FGFR3 c.742C>T p.R248C Missense 7/18 -
17-7577093-C-T TP53 c.845G>A p.R282Q Missense 8/11 -
4-72634052-G-T GC c.227C>A p.A76E Missense 3/13 -
5-137801664-G-A EGR1 c.214G>A p.G72S Missense 1/2 -
7-140453139-G-A BRAF c.1796C>T p.T599I Missense 15/18 -
7-140453193-T-C BRAF c.1742A>G p.N581S Missense 15/18 -
11-533874-T-C HRAS c.182A>G p.Q61R Missense 3/6 -
11-533875-G-T HRAS c.181C>A p.Q61K Missense 3/6 -
11-533874-T-A HRAS c.182A>T p.Q61L Missense 3/6 -
1-115256533-C-T NRAS c.178G>A p.G60R Missense 3/7 -
1-115256533-C-G NRAS c.178G>C p.G60R Missense 3/7 -
13-48941648-C-T RB1 c.958C>T p.R320* Nonsense 10/27 -
17-7574003-G-A TP53 c.1024C>T p.R342* Nonsense 10/11 -
17-7578475-G-A TP53 c.455C>T p.P152L Missense 5/11 -
17-7577114-C-T TP53 c.824G>A p.C275Y Missense 8/11 -
3-178917478-G-A PIK3CA c.353G>A p.G118D Missense 3/21 -
9-21971029-C-T CDKN2A c.329G>A p.W110* Nonsense 2/3 -
7-140453145-A-C BRAF c.1790T>G p.L597R Missense 15/18 -
7-140453136-AC-CT BRAF c.1798_1799delGTinsAG p.V600R Missense 15/18 -
7-140453152-A-G BRAF c.1783T>C p.F595L Missense 15/18 -
7-140453150-A-T BRAF c.1785T>A p.F595L Missense 15/18 -
7-140453150-A-C BRAF c.1785T>G p.F595L Missense 15/18 -
7-140453149-C-G BRAF c.1786G>C p.G596R Missense 15/18 -
7-140453146-G-C BRAF c.1789C>G p.L597V Missense 15/18 -
7-140453154-T-A BRAF c.1781A>T p.D594V Missense 15/18 -
14-81609760-T-C TSHR c.1358T>C p.M453T Missense 10/10 -
10-89717730-A-T PTEN c.755A>T p.D252V Missense 7/9 -
9-80409488-T-C GNAQ c.626A>G p.Q209R Missense 5/7 -
17-7578457-C-T TP53 c.473G>A p.R158H Missense 5/11 -
17-7578263-G-A TP53 c.586C>T p.R196* Nonsense 6/11 -
20-57484421-G-A GNAS c.602G>A p.R201H Missense 8/13 -
6-35436622-CT-GC RPL10A c.52_53delCTinsGC p.L18A Missense 2/6 -
17-7577114-C-G TP53 c.824G>C p.C275S Missense 8/11 -
9-5073770-G-A JAK2 c.1849G>A p.V617I Missense 14/25 -
13-48942685-C-T RB1 c.1072C>T p.R358* Nonsense 11/27 -
17-7578275-G-A TP53 c.574C>T p.Q192* Nonsense 6/11 -
17-7578443-A-C TP53 c.487T>G p.Y163D Missense 5/11 -
17-7577096-T-C TP53 c.842A>G p.D281G Missense 8/11 -
10-89692929-A-G PTEN c.413A>G p.Y138C Missense 5/9 -
3-178952072-A-G PIK3CA c.3127A>G p.M1043V Missense 21/21 -
7-140453132-T-G BRAF c.1803A>C p.K601N Missense 15/18 -
7-140453132-T-A BRAF c.1803A>T p.K601N Missense 15/18 -
12-25380277-G-C KRAS c.181C>G p.Q61E Missense 3/5 -
12-25380276-T-C KRAS c.182A>G p.Q61R Missense 3/5 -
1-115256529-T-G NRAS c.182A>C p.Q61P Missense 3/7 -
3-178952074-G-C PIK3CA c.3129G>C p.M1043I Missense 21/21 -
3-178952074-G-A PIK3CA c.3129G>A p.M1043I Missense 21/21 -
3-178952074-G-T PIK3CA c.3129G>T p.M1043I Missense 21/21 -
7-140453145-AG-GA BRAF c.1789_1790delCTinsTC p.L597S Missense 15/18 -
15-90631934-C-T IDH2 c.419G>A p.R140Q Missense 4/11 -
17-7578211-C-T TP53 c.638G>A p.R213Q Missense 6/11 -
15-90631935-G-A IDH2 c.418C>T p.R140W Missense 4/11 -
6-26056142-T-C H1-2 c.515A>G p.K172R Missense 1/1 -
7-140453154-T-C BRAF c.1781A>G p.D594G Missense 15/18 -
10-89711900-G-A PTEN c.518G>A p.R173H Missense 6/9 -
7-140453145-A-T BRAF c.1790T>A p.L597Q Missense 15/18 -
4-72649689-GC-CA GC c.46_47delGCinsTG p.A16C Missense 1/13 -
11-533873-C-A HRAS c.183G>T p.Q61H Missense 3/6 -
11-533873-C-G HRAS c.183G>C p.Q61H Missense 3/6 -
17-7577022-G-A TP53 c.916C>T p.R306* Nonsense 8/11 -
7-140453137-C-T BRAF c.1798G>A p.V600M Missense 15/18 -
4-72622621-T-C GC c.842A>G p.H281R Missense 8/13 -
2-21229160-C-T APOB c.10580G>A p.R3527Q Missense 26/29 -
17-7577130-A-G TP53 c.808T>C p.F270L Missense 8/11 -
5-89923208-C-T ADGRV1 c.853C>T p.R285C Missense 7/90 -
1-103496733-C-A COL11A1 c.719G>T p.S240I Missense 5/67 -
7-5568982-G-A ACTB c.173C>T p.A58V Missense 3/6 -
5-90001231-G-A ADGRV1 c.8401G>A p.G2801R Missense 37/90 -
2-227875191-C-T COL4A4 c.4360G>A p.G1454R Missense 46/48 -
2-227875182-C-G COL4A4 c.4369G>C p.G1457R Missense 46/48 -
5-70805633-T-C BDP1 c.2714T>C p.M905T Missense 17/39 -
19-10260284-G-A DNMT1 c.2431C>T p.H811Y Missense 26/41 -
19-10262175-C-T DNMT1 c.2164G>A p.D722N Missense 24/41 -
16-75661827-G-A KARS1 c.1760C>T p.T587I Missense 14/14 -
1-40767021-C-T COL9A2 c.1903G>A p.G635S Missense 32/32 -
X-107812034-G-A COL4A5 c.367G>A p.G123R Missense 6/53 -
4-42964970-T-C GRXCR1 c.446T>C p.V149A Missense 2/4 -
5-137803085-T-C EGR1 c.947T>C p.I316T Missense 2/2 -
8-38285587-G-A FGFR1 c.473C>T p.P158L Missense 5/18 -
19-10249155-C-T DNMT1 c.4075G>A p.V1359M Missense 35/41 -
20-42935521-G-A FITM2 c.533C>T p.T178M Missense 2/2 -
3-193375008-C-T OPA1 c.2318C>T p.A773V Missense 23/31 -
4-103557044-G-A MANBA c.2135C>T p.S712L Missense 15/17 -
3-193332631-A-G OPA1 c.152A>G p.Q51R Missense 2/31 -
7-92120650-A-G PEX1 c.3374T>C p.M1125T Missense 21/24 -
19-46270388-C-G SIX5 c.829G>C p.E277Q Missense 2/3 -
3-155571317-T-C SLC33A1 c.470A>G p.Y157C Missense 1/6 -
11-120989075-G-A TECTA c.851G>A p.R284H Missense 7/24 -
17-72916218-C-T USH1G c.713G>A p.R238H Missense 2/3 -
9-75441819-A-G TMC1 c.2038A>G p.T680A Missense 21/24 -
11-121000902-C-T TECTA c.2923C>T p.R975W Missense 10/24 -
11-121023661-C-T TECTA c.4177C>T p.R1393C Missense 13/24 -
1-216251673-C-T USH2A c.5330G>A p.R1777Q Missense 27/72 -
7-140624454-G-A BRAF c.50C>T p.A17V Missense 1/18 -
7-140453132-ATTT-A BRAF c.1801_1803delAAA p.K601del InFrameDeletion 15/18 -
7-140453136-A-G BRAF c.1799T>C p.V600A Missense 15/18 -
17-7577547-C-G TP53 c.734G>C p.G245A Missense 7/11 -
19-40762959-C-T AKT2 c.49G>A p.E17K Missense 3/14 -
17-7578272-G-A TP53 c.577C>T p.H193Y Missense 6/11 -
17-7578382-G-C TP53 c.548C>G p.S183* Nonsense 5/11 -
3-178916936-G-A PIK3CA c.323G>A p.R108H Missense 2/21 -
8-133880450-C-T TG c.158C>T p.A53V Missense 2/48 -
18-48591918-C-T SMAD4 c.1081C>T p.R361C Missense 9/12 -
2-190439928-G-T SLC40A1 c.230C>A p.A77D Missense 3/8 -
7-140453193-T-A BRAF c.1742A>T p.N581I Missense 15/18 -
12-25380277-G-T KRAS c.181C>A p.Q61K Missense 3/5 -
20-5283032-C-T PROKR2 c.809G>A p.R270H Missense 3/3 -
7-140477836-GTAGGTGCTGTCACAT-G BRAF c.1457_1471del15 p.N486_P490del InFrameDeletion 12/18 -
9-137779026-C-T FCN2 c.707C>T p.T236M Missense 8/8 -
7-55242511-G-A EGFR c.2281G>A p.D761N Missense 19/28 -
17-40857116-T-A EZH1 c.1925A>T p.Y642F Missense 17/21 -
10-43606856-G-A RET c.1465G>A p.D489N Missense 7/20 -
17-7578407-G-A TP53 c.523C>T p.R175C Missense 5/11 -
2-133402697-G-A GPR39 c.880G>A p.V294I Missense 2/2 -
2-21229161-G-A APOB c.10579C>T p.R3527W Missense 26/29 -
1-9775615-C-A PIK3CD c.158C>A p.A53D Missense 4/24 -
17-7579377-G-A TP53 c.310C>T p.Q104* Nonsense 4/11 -
11-533875-G-C HRAS c.181C>G p.Q61E Missense 3/6 -
11-533874-T-G HRAS c.182A>C p.Q61P Missense 3/6 -
11-534286-C-T HRAS c.37G>A p.G13S Missense 2/6 -
11-2182130-G-T INS c.72C>A p.A24= Synonymous 2/3 -
11-2182130-G-C INS c.72C>G p.A24= Synonymous 2/3 -
11-2182130-G-A INS c.72C>T p.A24= Synonymous 2/3 -
11-2182137-G-T INS c.65C>A p.A22D Missense 2/3 -
11-2182157-G-T INS c.45C>A p.A15= Synonymous 2/3 -
11-2182157-G-C INS c.45C>G p.A15= Synonymous 2/3 -
11-2182157-G-A INS c.45C>T p.A15= Synonymous 2/3 -
3-143691562-A-C DIPK2A c.388A>C p.T130P Missense 1/3 -
13-36050059-C-T MAB21L1 c.217G>A p.E73K Missense 1/1 -
9-21974771-G-T CDKN2A c.56C>A p.A19D Missense 1/3 -
4-72649707-GC-CA GC c.28_29delGCinsTG p.A10C Missense 1/13 -
8-95201511-TGC-AAA CDH17 c.52_54delGCAinsTTT p.A18F Missense 3/18 -
10-89711927-T-A PTEN c.545T>A p.L182* Nonsense 6/9 -
10-89711927-T-G PTEN c.545T>G p.L182* Nonsense 6/9 -
2-163002060-C-G GCG c.382G>C p.G128R Missense 4/6 -
17-7578257-C-A TP53 c.592G>T p.E198* Nonsense 6/11 -
11-108236203-C-T ATM c.9139C>T p.R3047* Nonsense 63/63 -
7-140453148-C-T BRAF c.1787G>A p.G596D Missense 15/18 -
7-140453135-C-T BRAF c.1800G>A p.V600= Synonymous 15/18 -
7-140453135-C-G BRAF c.1800G>C p.V600= Synonymous 15/18 -
7-140453135-C-A BRAF c.1800G>T p.V600= Synonymous 15/18 -
7-140453155-C-G BRAF c.1780G>C p.D594H Missense 15/18 -
9-21971036-C-T CDKN2A c.322G>A p.D108N Missense 2/3 -
11-71746962-C-A NUMA1 c.28G>T p.A10S Missense 3/27 -
14-95557629-T-C DICER1 c.5438A>G p.E1813G Missense 25/27 -
17-37880261-G-A ERBB2 c.2305G>A p.D769N Missense 19/27 -
17-7577144-A-G TP53 c.794T>C p.L265P Missense 8/11 -
17-55962873-GC-AA CUEDC1 c.52_53delGCinsTT p.A18F Missense 2/11 -
5-11903936-CGC-ACA CTNND2 c.28_30delGCGinsTGT p.A10C Missense 1/22 -
16-56782199-G-A NUP93 c.40G>A p.E14K Missense 2/22 -
3-178952073-T-C PIK3CA c.3128T>C p.M1043T Missense 21/21 -
3-138374244-T-A PIK3CB c.3200A>T p.D1067V Missense 24/24 -
1-153362715-T-C S100A8 c.146A>G p.K49R Missense 3/3 -
12-72956810-C-T TRHDE c.1897C>T p.Q678* Nonsense 9/19 -
4-72629569-TAC-CAT GC c.556_558delGTAinsATG p.V186M Missense 5/13 -
20-51870661-G-A TSHZ2 c.664G>A p.A222T Missense 2/3 -
11-2182200-A-AT INS c.1dupA p.M1Nfs*? CdsStartInsertion 2/3 -
7-31378167-G-A NEUROD6 c.716C>T p.A239V Missense 2/2 -
3-52356533-A-C DNAH1 c.75A>C p.A25= Synonymous 2/78 -
3-52356533-A-G DNAH1 c.75A>G p.A25= Synonymous 2/78 -
3-52356533-A-T DNAH1 c.75A>T p.A25= Synonymous 2/78 -
2-71694015-GCG-TGT DYSF c.43_45delGCGinsTGT p.A15C Missense 1/56 -
11-71746960-TGC-ACA NUMA1 c.28_30delGCAinsTGT p.A10C Missense 3/27 -
6-41557797-G-A FOXP4 c.1246G>A p.A416T Missense 11/17 -
11-56756448-G-T OR5AK2 c.60G>T p.Q20H Missense 1/1 -
11-56756448-G-C OR5AK2 c.60G>C p.Q20H Missense 1/1 -
X-129519125-G-C GPR119 c.297C>G p.I99M Missense 1/2 -
1-91733331-G-A HFM1 c.3854C>T p.S1285L Missense 35/39 -
11-59383063-G-T OSBP c.75C>A p.A25= Synonymous 1/14 -
11-59383063-G-C OSBP c.75C>G p.A25= Synonymous 1/14 -
11-59383063-G-A OSBP c.75C>T p.A25= Synonymous 1/14 -
2-163302757-C-G KCNH7 c.1325G>C p.R442P Missense 7/16 -
14-24568395-A-G PCK2 c.802A>G p.I268V Missense 5/10 -
14-20528321-A-G OR4L1 c.118A>G p.M40V Missense 1/1 -
9-125639842-G-T RC3H2 c.1233C>A p.Y411* Nonsense 9/21 -
9-125639842-G-C RC3H2 c.1233C>G p.Y411* Nonsense 9/21 -
16-837116-C-G RPUSD1 c.370G>C p.E124Q Missense 4/6 -
4-72634080-C-T GC c.199G>A p.V67I Missense 3/13 -
4-72649708-C-A GC c.28G>T p.A10S Missense 1/13 -
1-44069494-C-T PTPRF c.2671C>T p.R891W Missense 16/34 -
12-57828721-GC-TT INHBC c.52_53delGCinsTT p.A18F Missense 1/2 -
5-137803769-A-G EGR1 c.1631A>G p.*544= Synonymous 2/2 -
16-81069515-GCT-TGG ATMIN c.40_42delGCTinsTGG p.A14W Missense 1/4 -
X-152969527-G-A BCAP31 c.364C>T p.L122F Missense 5/8 -
12-51717845-GGC-CCA BIN2 c.40_42delGCCinsTGG p.A14W Missense 1/13 -
14-81382827-G-T CEP128 c.65C>A p.A22D Missense 3/25 -
11-134252734-C-T B3GAT1 c.788G>A p.R263Q Missense 4/6 -
15-23086364-GGCC-G NIPA1 c.45_47delGGC p.A16del InFrameDeletion 1/5 -
1-24201262-A-G CNR2 c.846T>C p.A282= Synonymous 2/2 -
4-100052733-C-A ADH4 c.765G>T p.P255= Synonymous 6/9 -
3-115571364-C-T LSAMP c.615G>A p.S205= Synonymous 4/7 -
14-20612595-G-C OR4N5 c.701G>C p.S234T Missense 3/3 -
17-39150167-G-A KRTAP3-3 c.183C>T p.C61= Synonymous 1/1 -
11-56000018-C-T OR5T2 c.644G>A p.R215H Missense 2/2 -
3-52443600-T-G BAP1 c.92A>C p.E31A Missense 3/17 -
3-11606481-GG-CT VGLL4 c.284_285delCCinsAG p.A95E Missense 3/5 -
4-68939712-G-A TMPRSS11F c.298C>T p.R100* Nonsense 4/10 -
22-30782089-A-G RNF215 c.471T>C p.L157= Synonymous 3/9 -
10-89692802-C-T PTEN c.286C>T p.P96S Missense 5/9 -
6-129920497-G-A ARHGAP18 c.1577C>T p.P526L Missense 12/15 -
5-137802755-C-T EGR1 c.617C>T p.A206V Missense 2/2 -
19-5844400-T-C FUT3 c.451A>G p.R151G Missense 3/3 -
19-5749174-G-A CATSPERD c.967G>A p.V323M Missense 11/22 -
1-24397636-A-G MYOM3 c.3121T>C p.F1041L Missense 25/37 -
8-145731945-A-G GPT c.1193A>G p.N398S Missense 9/11 -
1-150727539-G-A CTSS c.337C>T p.R113W Missense 4/8 -
9-27157925-G-A TEK c.149G>A p.R50H Missense 2/23 -
1-205814506-G-A PM20D1 c.436C>T p.R146C Missense 3/13 -
18-43469775-T-C EPG5 c.4940A>G p.E1647G Missense 28/44 -
17-1381773-G-A MYO1C c.1226C>T p.P409L Missense 11/32 -
5-45262722-G-A HCN1 c.1974C>T p.S658= Synonymous 8/8 -
5-137802667-C-T EGR1 c.529C>T p.P177S Missense 2/2 -
22-40819628-G-A MRTFA c.539C>T p.P280L Missense 9/15 -
19-35719205-G-A FAM187B c.379C>T p.P127S Missense 1/2 -
6-160464296-G-A IGF2R c.1597G>A p.E533K Missense 12/48 -
16-71610204-C-T TAT c.115G>A p.A39T Missense 2/12 -
5-137801616-G-C EGR1 c.166G>C p.E56Q Missense 1/2 -
2-163003875-G-A GCG c.242C>T p.T81I Missense 3/6 -
8-121238917-G-A COL14A1 c.1916G>A p.S639N Missense 16/48 -
18-61326659-C-T SERPINB3 c.325G>A p.G109R Missense 4/8 -
7-93067574-G-A CALCR c.811C>T p.L271= Synonymous 10/14 -
17-37856531-GCC-TGG ERBB2 c.40_42delGCCinsTGG p.A14W Missense 1/27 -
11-534269-CGC-ATA HRAS c.52_54delGCGinsTAT p.A18Y Missense 2/6 -
13-32890662-CA-AC BRCA2 c.65_66delCAinsAC p.A22D Missense 2/27 -
1-115258728-TGC-AAA NRAS c.52_54delGCAinsTTT p.A18F Missense 2/7 -
2-198288658-TGC-CAT SF3B1 c.67_69delGCAinsATG p.A23M Missense 2/25 -
7-140624388-GC-AT BRAF c.115_116delGCinsAT p.A39M Missense 1/18 -
7-140624389-C-G BRAF c.115G>C p.A39P Missense 1/18 -
7-140624389-C-T BRAF c.115G>A p.A39T Missense 1/18 -
7-140624388-GC-TT BRAF c.115_116delGCinsAA p.A39K Missense 1/18 -
9-120475419-T-C TLR4 c.1013T>C p.V338A Missense 3/3 -
17-7572986-G-A TP53 c.1123C>T p.Q375* Nonsense 11/11 -
7-140453179-C-T BRAF c.1756G>A p.E586K Missense 15/18 -
7-140453175-T-G BRAF c.1760A>C p.D587A Missense 15/18 -
7-140453174-G-C BRAF c.1761C>G p.D587E Missense 15/18 -
7-140453174-G-T BRAF c.1761C>A p.D587E Missense 15/18 -
1-115256530-G-C NRAS c.181C>G p.Q61E Missense 3/7 -
22-24133967-C-T SMARCB1 c.118C>T p.R40* Nonsense 2/9 -
7-140453159-T-C BRAF c.1776A>G p.I592M Missense 15/18 -
7-140453161-T-C BRAF c.1774A>G p.I592V Missense 15/18 -
7-140453153-A-T BRAF c.1782T>A p.D594E Missense 15/18 -
7-140453151-A-G BRAF c.1784T>C p.F595S Missense 15/18 -
7-140453137-C-CTGTTGT BRAF c.1797_1798insACAACA p.T599_V600insTT InFrameInsertion 15/18 -
10-89711893-C-T PTEN c.511C>T p.Q171* Nonsense 6/9 -
3-41266064-G-A CTNNB1 c.61G>A p.A21T Missense 3/15 -
7-151859891-G-A KMT2C c.10771C>T p.Q3591* Nonsense 43/59 -
7-140481478-G-A BRAF c.1330C>T p.R444W Missense 11/18 -
18-48591888-G-A SMAD4 c.1051G>A p.D351N Missense 9/12 -
5-138643564-C-T MATR3 c.460C>T p.P154S Missense 2/15 -
11-108236087-G-A ATM c.9023G>A p.R3008H Missense 63/63 -
7-140453137-C-A BRAF c.1798G>T p.V600L Missense 15/18 -
13-32890661-GC-AT BRCA2 c.64_65delGCinsAT p.A22I Missense 2/27 -
3-41266061-GCG-TGT CTNNB1 c.58_60delGCGinsTGT p.A20C Missense 3/15 -
7-112102176-G-A IFRD1 c.739G>A p.A247T Missense 7/12 -
2-25469564-G-A DNMT3A c.1204C>T p.Q402* Nonsense 10/23 -
11-5172911-C-T OR52A1 c.689G>A p.R230H Missense 2/2 -
7-140453133-T-C BRAF c.1802A>G p.K601R Missense 15/18 -
10-82036179-C-T MAT1A c.721G>A p.V241I Missense 6/9 -
22-43898557-G-A MPPED1 c.782G>A p.R261Q Missense 6/7 -
15-99465657-G-A IGF1R c.2482G>A p.A828T Missense 11/21 -
12-26572044-C-T ITPR2 c.7048G>A p.V2350M Missense 50/57 -
4-72649705-C-T GC c.31G>A p.V11M Missense 1/13 -
10-89717712-C-T PTEN c.737C>T p.P246L Missense 7/9 -
16-56782202-C-T NUP93 c.43C>T p.Q15* Nonsense 2/22 -
16-81095125-C-T C16orf46 c.829G>A p.D277N Missense 4/4 -
18-50734133-C-T DCC c.1807C>T p.R603C Missense 11/29 -
21-33073398-A-T SCAF4 c.687T>A p.A229= Synonymous 7/20 -
6-49665595-A-T CRISP2 c.493T>A p.Y165N Missense 8/10 -
17-41267794-A-G BRCA1 c.83T>C p.L28P Missense 3/23 -
17-41222982-A-T BRCA1 c.4949T>A p.M1650K Missense 15/23 -
8-133880374-G-A TG c.82G>A p.A28T Missense 2/48 -
4-72623776-C-T GC c.814G>A p.D272N Missense 7/13 -
5-137802995-T-C EGR1 c.857T>C p.L286P Missense 2/2 -
14-20876571-C-A TEP1 c.28G>T p.A10S Missense 2/55 -
22-41545939-C-T EP300 c.2554C>T p.Q852* Nonsense 14/31 -
12-7636133-C-T CD163 c.2918G>A p.G973D Missense 12/17 -
9-21971053-G-A CDKN2A c.305C>T p.A102V Missense 2/3 -
15-44093955-G-A HYPK c.341G>A p.R106Q Missense 4/4 -
13-48919279-G-A RB1 c.444G>A p.M148I Missense 4/27 -
2-207169562-G-A ZDBF2 c.310G>A p.E104K Missense 5/5 -
2-25470539-G-A DNMT3A c.935C>T p.S312F Missense 8/23 -
6-7393347-G-C RIOK1 c.87G>C p.L29F Missense 2/17 -
X-103041545-G-A PLP1 c.343G>A p.A115T Missense 3/7 -
17-7573997-GCT-G TP53 c.1028_1029delAG p.E343Afs*3 Frameshift 10/11 -
15-72640388-C-T HEXA c.1073+1G>A - IntronicSNV - 9/13
7-140453135-CA-AT BRAF c.1799_1800delinsAT p.V600D Missense 15/18 -
1-115256532-C-T NRAS c.179G>A p.G60E Missense 3/7 -
2-39250247-C-T SOS1 c.1322G>A p.C441Y Missense 10/23 -
2-128186204-C-G PROC c.1068C>G p.R356= Synonymous 9/9 -
14-81610317-C-T TSHR c.1915C>T p.P639S Missense 10/10 -
7-140453157-C-T BRAF c.1778G>A p.G593D Missense 15/18 -
7-140453132-T-C BRAF c.1803A>G p.K601= Synonymous 15/18 -
17-7579446-T-C TP53 c.241A>G p.T81A Missense 4/11 -
17-41246325-T-C BRCA1 c.1223A>G p.K408R Missense 10/23 -
16-30133323-C-T MAPK3 c.175G>A p.A59T Missense 2/9 -
7-140453134-T-G BRAF c.1801A>C p.K601Q Missense 15/18 -
2-21229160-C-A APOB c.10580G>T p.R3527L Missense 26/29 -
22-24134006-C-T SMARCB1 c.157C>T p.R53* Nonsense 2/9 -
19-36342241-G-T NPHS1 c.320C>A p.A107E Missense 3/29 -
16-16256941-C-T ABCC6 c.3415G>A p.A1139T Missense 24/31 -
7-140453167-C-T BRAF c.1768G>A p.V590I Missense 15/18 -
14-81610320-A-G TSHR c.1918A>G p.I640V Missense 10/10 -
7-140453143-C-T BRAF c.1792G>A p.A598T Missense 15/18 -
6-41533613-G-C FOXP4 c.115G>C p.A39P Missense 2/17 -
7-140453153-A-G BRAF c.1782T>C p.D594= Synonymous 15/18 -
1-115256528-T-C NRAS c.183A>G p.Q61= Synonymous 3/7 -
7-140453158-C-T BRAF c.1777G>A p.G593S Missense 15/18 -
7-140453136-AC-TG BRAF c.1798_1799delGTinsCA p.V600Q Missense 15/18 -
7-140453137-C-G BRAF c.1798G>C p.V600L Missense 15/18 -
3-185823414-C-T ETV5 c.133G>A p.E45K Missense 3/13 -
10-89692932-T-A PTEN c.416T>A p.L139* Nonsense 5/9 -
20-57484597-G-T GNAS c.681G>T p.Q227H Missense 9/13 -
7-140453133-T-A BRAF c.1802A>T p.K601I Missense 15/18 -
6-101296250-A-G ASCC3 c.575T>C p.I192T Missense 4/42 -
13-52548923-C-A ATP7B c.433G>T p.V145F Missense 2/21 -
10-89717729-G-T PTEN c.754G>T p.D252Y Missense 7/9 -
7-140453185-G-A BRAF c.1750C>T p.L584F Missense 15/18 -
X-20156735-C-T EIF1AX c.22G>A p.G8R Missense 2/7 -
11-124539273-T-C SIAE c.212A>G p.K71R Missense 2/10 -
10-89717726-G-T PTEN c.751G>T p.G251C Missense 7/9 -
9-5126726-C-T JAK2 c.3334C>T p.Q1112* Nonsense 25/25 -
14-95557639-C-G DICER1 c.5428G>C p.D1810H Missense 25/27 -
7-102087131-T-G ORAI2 c.397T>G p.S133A Missense 4/4 -
17-58740503-G-A PPM1D c.1408G>A p.D470N Missense 6/6 -
17-58740537-C-T PPM1D c.1442C>T p.A481V Missense 6/6 -
7-140453133-TT-AG BRAF c.1801_1802delAAinsCT p.K601L Missense 15/18 -
7-140453142-G-A BRAF c.1793C>T p.A598V Missense 15/18 -
11-108216585-G-A ATM c.8534G>A p.W2845* Nonsense 58/63 -
11-108216586-G-A ATM c.8535G>A p.W2845* Nonsense 58/63 -
7-140453138-T-C BRAF c.1797A>G p.T599= Synonymous 15/18 -
7-140453138-T-A BRAF c.1797A>T p.T599= Synonymous 15/18 -
7-140453138-T-G BRAF c.1797A>C p.T599= Synonymous 15/18 -
7-140453123-TCCATCGAGATTTCAC-T BRAF c.1798_1812del15 p.V600_W604del InFrameDeletion 15/18 -
X-149807440-G-T MTM1 c.469G>T p.E157* Nonsense 7/15 -
19-10600426-C-T KEAP1 c.1429G>A p.G477S Missense 4/6 -
7-140453144-T-C BRAF c.1791A>G p.L597= Synonymous 15/18 -
6-107088775-TG-GC QRSL1 c.262_263delTGinsGC p.C88A Missense 3/11 -
5-112176431-G-A APC c.5140G>A p.D1714N Missense 16/16 -
7-140453169-G-A BRAF c.1766C>T p.T589I Missense 15/18 -
3-12660162-GC-CA RAF1 c.58_59delGCinsTG p.A20C Missense 2/17 -
3-10191497-C-T VHL c.490C>T p.Q164* Nonsense 3/3 -
10-34985316-A-C PARD3 c.152T>G p.L51W Missense 2/25 -
X-20156731-C-T EIF1AX c.26G>A p.G9D Missense 2/7 -
X-20156732-C-G EIF1AX c.25G>C p.G9R Missense 2/7 -
17-47696667-G-C SPOP c.281C>G p.P94R Missense 4/10 -
9-8375990-C-A PTPRD c.4607G>T p.R1536L Missense 39/46 -
9-139399350-C-T NOTCH1 c.4793G>A p.R1598H Missense 26/34 -
5-112176431-G-C APC c.5140G>C p.D1714H Missense 16/16 -
10-89717727-G-T PTEN c.752G>T p.G251V Missense 7/9 -
1-115256530-G-A NRAS c.181C>T p.Q61* Nonsense 3/7 -
10-89692931-T-G PTEN c.415T>G p.L139V Missense 5/9 -
2-169842791-A-C ABCB11 c.912T>G p.Y304* Nonsense 10/28 -
17-7577109-A-G TP53 c.829T>C p.C277R Missense 8/11 -
3-49162280-C-T LAMB2 c.2963G>A p.C988Y Missense 21/32 -
11-6622218-G-A RRP8 c.985C>T p.P329S Missense 4/7 -
11-6622218-G-C RRP8 c.985C>G p.P329A Missense 4/7 -
2-25470535-C-T DNMT3A c.939G>A p.W313* Nonsense 8/23 -
2-150426631-G-A MMADHC c.748C>T p.R250* Nonsense 8/8 -
4-187628248-C-T FAT1 c.2734G>A p.V912I Missense 2/27 -
14-81610317-C-G TSHR c.1915C>G p.P639A Missense 10/10 -
17-29588851-C-G NF1 c.4700C>G p.S1567* Nonsense 35/58 -
5-180043423-C-T FLT4 c.3163G>A p.D1055N Missense 23/30 -
7-87082314-T-C ABCB4 c.482A>G p.E161G Missense 6/28 -
7-55268896-C-T EGFR c.2962C>T p.H988Y Missense 25/28 -
7-16839390-T-C AGR2 c.308A>G p.Q103R Missense 5/8 -
3-52443600-T-C BAP1 c.92A>G p.E31G Missense 3/17 -
22-20079439-G-A DGCR8 c.1552G>A p.E518K Missense 7/14 -
19-10893735-C-T DNM2 c.788C>T p.P263L Missense 6/21 -
12-46244997-C-T ARID2 c.3091C>T p.Q1031* Nonsense 15/21 -
7-150878358-C-T ASB10 c.772G>A p.V258I Missense 3/6 -
19-8196578-C-T FBN3 c.1850G>A p.R617H Missense 15/64 -
19-55146593-G-A LILRB1 c.1525G>A p.V509M Missense 11/15 -
3-183963511-C-T ALG3 c.286G>A p.G96R Missense 2/9 -
15-72642882-C-T HEXA c.782G>A p.G261D Missense 7/14 -
1-116932301-T-G ATP1A1 c.995T>G p.V332G Missense 8/23 -
8-4851861-T-G CSMD1 c.78A>C p.A26= Synonymous 1/70 -
8-4851861-T-C CSMD1 c.78A>G p.A26= Synonymous 1/70 -
8-4851861-T-A CSMD1 c.78A>T p.A26= Synonymous 1/70 -
1-147381186-G-C GJA8 c.1104G>C p.E368D Missense 2/2 -
1-147381186-G-T GJA8 c.1104G>T p.E368D Missense 2/2 -
1-201328349-G-A TNNT2 c.886C>T p.R296C Missense 17/17 -
10-75868775-A-G VCL c.2606A>G p.E869G Missense 18/22 -
12-122687921-G-A LRRC43 c.1903G>A p.V635I Missense 12/12 -
11-117280645-G-A CEP164 c.4060G>A p.D1354N Missense 30/33 -
1-179077163-G-C ABL2 c.3239C>G p.S1080* Nonsense 12/12 -
1-179077269-G-A ABL2 c.3133C>T p.Q1045* Nonsense 12/12 -
12-13715749-C-T GRIN2B c.4423G>A p.E1475K Missense 14/14 -
13-95055374-G-A GPC6 c.1571G>A p.R524Q Missense 9/9 -
13-31035566-TTCC-T HMGB1 c.573_575delGGA p.E192del InFrameDeletion 5/5 -
11-19246838-T-A E2F8 c.2351A>T p.N784I Missense 12/13 -
11-61551039-C-T MYRF c.3086C>T p.T1029I Missense 23/27 -
13-100637890-G-T ZIC2 c.1553G>T p.G518V Missense 3/3 -
1-159842908-G-A CFAP45 c.1403C>T p.A468V Missense 11/12 -
12-108128006-G-T PRDM4 c.2387C>A p.S796Y Missense 12/12 -
1-237993860-G-A RYR2 c.14686G>A p.D4896N Missense 103/105 -
10-120797832-G-C EIF3A c.3646C>G p.R1216G Missense 20/22 -
10-120797843-T-A EIF3A c.3635A>T p.D1212V Missense 20/22 -
10-60573609-C-T BICC1 c.2396C>T p.S799L Missense 18/21 -
12-110353299-C-G TCHP c.1412C>G p.A471G Missense 12/13 -
1-153784245-G-A GATAD2B c.1610C>T p.P537L Missense 10/11 -
13-111099179-C-T COL4A2 c.1046C>T p.P349L Missense 18/48 -
1-183111704-G-A LAMC1 c.4609G>A p.E1537K Missense 28/28 -
1-183208652-A-G LAMC2 c.3023A>G p.K1008R Missense 20/23 -
10-65379435-G-C REEP3 c.586G>C p.D196H Missense 7/8 -
10-100189586-G-A HPS1 c.829C>T p.H277Y Missense 9/20 -
12-53804795-A-G SP1 c.2129A>G p.N710S Missense 6/6 -
11-490485-G-A PTDSS2 c.1367G>A p.S456N Missense 12/12 -
1-91733329-T-C HFM1 c.3856A>G p.T1286A Missense 35/39 -
12-112589709-T-G TRAFD1 c.1384T>G p.Y462D Missense 10/12 -
1-226075320-C-G LEFTY1 c.516G>C p.E172D Missense 3/4 -
1-226075322-C-A LEFTY1 c.514G>T p.E172* Nonsense 3/4 -
14-21500190-T-C TPPP2 c.467T>C p.V156A Missense 4/4 -
12-54576295-T-A SMUG1 c.398A>T p.Q133L Missense 4/4 -
11-46727180-G-T ZNF408 c.1930G>T p.A644S Missense 5/5 -
12-55356225-T-C TESPA1 c.1457A>G p.D486G Missense 9/11 -
1-155307970-T-C ASH1L c.8713A>G p.T2905A Missense 27/28 -
12-88376915-G-A C12orf50 c.1184C>T p.S395L Missense 12/13 -
18-56149135-T-C ALPK2 c.6433A>G p.I2145V Missense 13/13 -
17-47039134-G-A GIP c.305C>T p.A102V Missense 4/6 -
19-13991282-C-T NANOS3 c.544C>T p.P182S Missense 2/2 -
17-16338272-C-A TRPV2 c.2183C>A p.A728E Missense 14/15 -
18-61077535-G-A VPS4B c.284C>T p.A95V Missense 3/11 -
19-1037875-C-G CNN2 c.906C>G p.Y302* Nonsense 7/7 -
15-72454662-T-C GRAMD2A c.1013A>G p.E338G Missense 11/12 -
16-67762359-T-A RANBP10 c.1408A>T p.M470L Missense 11/14 -
18-19780673-G-C GATA6 c.1675G>C p.E559Q Missense 7/7 -
15-42059342-T-C MGA c.9062T>C p.V3021A Missense 24/24 -
15-42059342-T-G MGA c.9062T>G p.V3021G Missense 24/24 -
16-3065427-C-T CLDN6 c.596G>A p.R199H Missense 2/2 -
14-93303788-A-G GOLGA5 c.2109A>G p.I703M Missense 12/13 -
17-72692351-C-T CD300LF c.565G>A p.G189R Missense 5/7 -
16-69727910-A-T NFAT5 c.4182A>T p.L1394F Missense 13/15 -
19-49920492-G-A KASH5 c.1516G>A p.G506S Missense 19/20 -
17-42475015-G-C GPATCH8 c.4430C>G p.T1477S Missense 8/8 -
17-42475010-GTGCAGTGGCAGCTGC-G GPATCH8 c.4420_4434del15 p.A1474_A1478del InFrameDeletion 8/8 -
19-55294988-G-A KIR2DL1 c.868G>A p.E290K Missense 7/8 -
19-55378013-G-A KIR3DL2 c.1195G>A p.A399T Missense 9/9 -
19-55378031-G-A KIR3DL2 c.1213G>A p.V405I Missense 9/9 -
17-43331805-G-C SPATA32 c.1143C>G p.I381M Missense 5/5 -
17-43923926-G-A SPPL2C c.1654G>A p.A552T Missense 1/1 -
16-74919593-A-C WDR59 c.2647T>G p.L883V Missense 25/26 -
19-4171739-G-A CREB3L3 c.1159G>A p.E387K Missense 10/10 -
17-74732250-G-C SRSF2 c.659C>G p.S220C Missense 2/3 -
15-90293428-C-T MESP1 c.754G>A p.E252K Missense 2/2 -
19-4523617-C-G PLIN5 c.1315G>C p.G439R Missense 8/8 -
19-52023341-T-A SIGLEC6 c.1357A>T p.K453* Nonsense 8/8 -
17-76170913-T-G TK1 c.632A>C p.K211T Missense 7/7 -
2-30480383-G-A LBH c.214G>A p.E72K Missense 3/3 -
2-71909724-C-T DYSF c.6238C>T p.R2080W Missense 55/56 -
2-103324769-G-A SLC9A2 c.2260G>A p.E754K Missense 12/12 -
2-103324773-A-G SLC9A2 c.2264A>G p.K755R Missense 12/12 -
2-37334481-C-T EIF2AK2 c.1591G>A p.E531K Missense 17/17 -
20-31024411-G-A ASXL1 c.3896G>A p.G1299D Missense 13/13 -
3-41280634-A-G CTNNB1 c.2147A>G p.Y716C Missense 15/15 -
3-41280717-C-A CTNNB1 c.2230C>A p.P744T Missense 15/15 -
22-39262611-G-A CBX6 c.842C>T p.P281L Missense 5/5 -
21-33043813-C-G SCAF4 c.3343G>C p.E1115Q Missense 20/20 -
20-49366676-G-A PARD6B c.770G>A p.R257K Missense 3/3 -
2-74784179-G-A DOK1 c.1384G>A p.D462N Missense 5/5 -
4-83857237-G-C LIN54 c.1742C>G p.P581R Missense 11/13 -
3-121179063-G-A POLQ c.6986C>T p.A2329V Missense 25/30 -
20-1517872-G-A SIRPD c.506C>T p.A169V Missense 3/4 -
18-5395089-C-T EPB41L3 c.3130G>A p.D1044N Missense 21/23 -
18-5395092-C-A EPB41L3 c.3127G>T p.G1043W Missense 21/23 -
2-85536172-A-T TCF7L1 c.1354A>T p.K452* Nonsense 12/12 -
2-212248348-C-A ERBB4 c.3919G>T p.V1307L Missense 28/28 -
22-32215193-A-G DEPDC5 c.1852A>G p.M618V Missense 22/43 -
3-9517666-C-T SETD5 c.4220C>T p.A1407V Missense 23/23 -
2-212251745-G-C ERBB4 c.3314C>G p.S1105C Missense 27/28 -
4-3516526-C-T LRPAP1 c.964G>A p.E322K Missense 7/8 -
2-176965332-C-A HOXD12 c.657C>A p.N219K Missense 2/2 -
2-176944985-CCCG-C EVX2 c.1278_1280delCGG p.G428del InFrameDeletion 3/3 -
2-63283329-G-A OTX1 c.943G>A p.D315N Missense 5/5 -
4-95497125-C-T PDLIM5 c.650C>T p.S217F Missense 5/13 -
4-4322849-G-A ZBTB49 c.2104G>A p.E702K Missense 8/8 -
22-45691583-A-G UPK3A c.847A>G p.S283G Missense 6/6 -
2-68544345-C-G CNRIP1 c.274G>C p.E92Q Missense 2/3 -
2-68544345-C-T CNRIP1 c.274G>A p.E92K Missense 2/3 -
4-104510921-C-A TACR3 c.1316G>T p.C439F Missense 5/5 -
20-60511927-T-C CDH4 c.2677T>C p.Y893H Missense 16/16 -
5-70858315-C-T BDP1 c.7711C>T p.Q2571* Nonsense 38/39 -
4-71024450-G-A PRR27 c.481G>A p.E161K Missense 3/5 -
4-109745340-T-C COL25A1 c.1835A>G p.K612R Missense 35/38 -
20-61039965-G-A GATA5 c.1121C>T p.T374M Missense 7/7 -
6-151939128-T-G CCDC170 c.1994T>G p.V665G Missense 11/11 -
5-149676882-C-A ARSI c.1605G>T p.R535S Missense 2/2 -
5-149676887-C-A ARSI c.1600G>T p.G534W Missense 2/2 -
5-149784729-C-T CD74 c.456G>A p.L152= Synonymous 5/9 -
5-132158517-G-A SHROOM1 c.2530C>T p.Q844* Nonsense 10/10 -
4-170641066-T-C CLCN3 c.2375T>C p.L792P Missense 13/13 -
5-150411907-C-T TNIP1 c.1817G>A p.R606Q Missense 17/18 -
5-10973762-G-C CTNND2 c.3481C>G p.Q1161E Missense 22/22 -
8-16850687-T-C FGF20 c.530A>G p.D177G Missense 3/3 -
4-178283471-A-G NEIL3 c.1664A>G p.N555S Missense 10/10 -
8-57078936-G-A PLAG1 c.1369C>T p.P457S Missense 5/5 -
8-57353902-C-T PENK c.733G>A p.E245K Missense 4/4 -
4-25678361-C-T SLC34A2 c.2063C>T p.T688M Missense 13/13 -
8-57354006-T-C PENK c.629A>G p.Y210C Missense 4/4 -
9-32541435-G-A TOPORS c.3088C>T p.R1030W Missense 3/3 -
9-129456048-CCAG-C LMX1B c.853_855delCAG p.Q285del InFrameDeletion 6/8 -
5-95728775-G-A PCSK1 c.2192C>T p.T731I Missense 14/14 -
7-108213643-T-C DNAJB9 c.518T>C p.M173T Missense 3/3 -
5-137524750-A-G CDC23 c.1711T>C p.F571L Missense 16/16 -
5-137803724-C-T EGR1 c.1586C>T p.S529L Missense 2/2 -
6-41738433-T-C FRS3 c.1403A>G p.N468S Missense 7/7 -
5-96503564-G-A RIOK2 c.1004C>T p.S335L Missense 8/10 -
6-41754716-A-G PRICKLE4 c.1004A>G p.K335R Missense 8/8 -
7-93540200-G-A GNGT1 c.195G>A p.K65= Synonymous 3/3 -
7-93540201-G-C GNGT1 c.196G>C p.E66Q Missense 3/3 -
7-93540203-G-T GNGT1 c.198G>T p.E66D Missense 3/3 -
6-86324743-C-T SYNCRIP c.1603G>A p.V535I Missense 11/11 -
6-86324746-C-T SYNCRIP c.1600G>A p.G534S Missense 11/11 -
8-28196728-C-G PNOC c.298C>G p.R100G Missense 3/4 -
8-28196729-G-A PNOC c.299G>A p.R100Q Missense 3/4 -
5-45262092-T-C HCN1 c.2604A>G p.P868= Synonymous 8/8 -
X-100349926-G-A TMEM35A c.485G>A p.G162D Missense 2/2 -
X-102317829-G-A BEX1 c.374C>T p.P125L Missense 3/3 -
7-5662664-G-T RNF216 c.2599C>A p.P867T Missense 17/17 -
X-103495055-G-A ESX1 c.1075C>T p.P359S Missense 4/4 -
6-32083526-T-C ATF6B c.2102A>G p.N701S Missense 18/18 -
6-110746109-C-T SLC22A16 c.1701G>A p.A567= Synonymous 8/8 -
6-110746110-G-C SLC22A16 c.1700C>G p.A567G Missense 8/8 -
X-70327615-G-A IL2RG c.1081C>T p.P361S Missense 8/8 -
7-19738204-G-C POLR1F c.752C>G p.A251G Missense 4/4 -
8-42873627-G-A HOOK3 c.2143G>A p.A715T Missense 22/22 -
9-93375575-C-T DIRAS2 c.535G>A p.D179N Missense 2/2 -
9-93375575-C-A DIRAS2 c.535G>T p.D179Y Missense 2/2 -
9-93375576-G-A DIRAS2 c.534C>T p.I178= Synonymous 2/2 -
9-93375578-T-C DIRAS2 c.532A>G p.I178V Missense 2/2 -
X-54776381-G-A ITIH6 c.3889C>T p.R1297C Missense 13/13 -
9-19058159-G-A HAUS6 c.2606C>T p.T869I Missense 16/17 -
X-20029036-G-A MAP7D2 c.2207C>T p.P736L Missense 16/17 -
5-153789197-G-A GALNT10 c.1261G>A p.A421T Missense 9/12 -
6-44250215-C-T TCTE1 c.928G>A p.E310K Missense 4/5 -
8-145947459-G-C ZNF251 c.1586C>G p.S529C Missense 5/5 -
17-18156699-G-A FLII c.929C>T p.P310L Missense 9/30 -
7-140453135-CA-TT BRAF c.1799_1800delinsAA p.V600E Missense 15/18 -
10-89717727-G-A PTEN c.752G>A p.G251D Missense 7/9 -
3-51969488-C-T RRP9 c.841G>A p.G281R Missense 10/15 -
10-72633169-A-G SGPL1 c.1121A>G p.Y374C Missense 12/15 -
8-128752882-T-C MYC c.1043T>C p.L348P Missense 3/3 -
15-55497812-G-A RAB27A c.559C>T p.R187W Missense 7/7 -
13-32953493-C-T BRCA2 c.8794C>T p.H2932Y Missense 22/27 -
4-72618298-C-G GC c.1332G>C p.K444N Missense 11/13 -
4-72629150-A-G GC c.676T>C p.Y226H Missense 6/13 -
4-72629181-C-T GC c.645G>A p.L215= Synonymous 6/13 -
8-133881995-C-T TG c.198C>T p.D66= Synonymous 3/48 -
4-72649714-G-C GC c.22C>G p.L8V Missense 1/13 -
4-72631153-T-C GC c.469A>G p.N157D Missense 4/13 -
4-72620721-C-T GC c.1138G>A p.D380N Missense 9/13 -
8-133880466-C-T TG c.174C>T p.F58= Synonymous 2/48 -
7-140453189-T-C BRAF c.1746A>G p.I582M Missense 15/18 -
7-140453186-A-G BRAF c.1749T>C p.F583= Synonymous 15/18 -
7-140453183-A-G BRAF c.1752T>C p.L584= Synonymous 15/18 -
7-140453177-T-C BRAF c.1758A>G p.E586= Synonymous 15/18 -
9-21971155-G-A CDKN2A c.203C>T p.A68V Missense 2/3 -
7-140624389-C-A BRAF c.115G>T p.A39S Missense 1/18 -
8-133879250-C-T TG c.5C>T p.A2V Missense 1/48 -
11-66639566-G-T PC c.65C>A p.A22D Missense 4/23 -
2-25523021-C-T DNMT3A c.164G>A p.R55H Missense 3/23 -
14-95556886-T-G DICER1 c.5718A>C p.R1906S Missense 27/27 -
3-52433173-C-A DNAH1 c.12397C>A p.R4133S Missense 76/78 -
11-9812167-A-C SBF2 c.4634T>G p.I1545S Missense 34/40 -
1-44457888-C-T CCDC24 c.131C>T p.A44V Missense 3/9 -
17-37371255-C-T STAC2 c.721G>A p.E241K Missense 6/11 -
2-233744290-A-G NGEF c.2042T>C p.L681P Missense 15/15 -
2-103141530-G-T SLC9A4 c.1866G>T p.K622N Missense 10/12 -
19-19359691-C-T NCAN c.3820C>T p.P1274S Missense 14/15 -
2-169850358-G-A ABCB11 c.646C>T p.Q216* Nonsense 8/28 -
5-137801583-GC-TT EGR1 c.133_134delGCinsTT p.A45F Missense 1/2 -
5-137801584-C-A EGR1 c.134C>A p.A45D Missense 1/2 -
20-57484597-G-C GNAS c.681G>C p.Q227H Missense 9/13 -
11-66639333-G-C PC c.146C>G p.A49G Missense 5/23 -
16-30129436-T-C MAPK3 c.592A>G p.T198A Missense 4/9 -
12-54651351-C-A CBX5 c.84G>T p.R28S Missense 2/5 -
12-54651352-C-A CBX5 c.83G>T p.R28M Missense 2/5 -
14-23902905-C-T MYH7 c.37G>A p.A13T Missense 3/40 -
7-140453140-T-TTAC BRAF c.1794_1795insGTA p.A598_T599insV InFrameInsertion 15/18 -
7-140453136-A-ACTGTTGCAAGACCAAAGT BRAF c.1798_1799insACTTTGGTCTTGCAACAG p.D594_T599dup InFrameInsertion 15/18 -
7-140453176-C-T BRAF c.1759G>A p.D587N Missense 15/18 -
19-36545901-G-T WDR62 c.28G>T p.A10S Missense 1/32 -
22-41513617-A-G EP300 c.521A>G p.N174S Missense 2/31 -
X-152991304-C-T ABCD1 c.583C>T p.Q195* Nonsense 1/10 -
12-96359525-TG-T AMDHD1 c.1000delG p.D334Ifs*20 Frameshift 7/9 -
7-97858473-CA-C TECPR1 c.2287delT p.W763Gfs*56 Frameshift 16/26 -
17-5418799-G-A NLRP1 c.4096C>T p.R1366C Missense 16/17 -
21-42866439-C-A TMPRSS2 c.82G>T p.A28S Missense 3/14 -
13-32913950-T-C BRCA2 c.5458T>C p.C1820R Missense 11/27 -
5-137802508-C-T EGR1 c.370C>T p.Q124* Nonsense 2/2 -
4-72620186-T-C GC c.1204A>G p.K402E Missense 10/13 -
14-23885503-C-T MYH7 c.4663G>A p.E1555K Missense 34/40 -
X-153001964-C-T ABCD1 c.1390C>T p.R464* Nonsense 4/10 -
5-179302050-G-A TBC1D9B c.2038C>T p.P680S Missense 12/21 -
3-119217655-C-A TIMMDC1 c.75C>A p.A25= Synonymous 1/7 -
5-112176431-G-T APC c.5140G>T p.D1714Y Missense 16/16 -
1-152285608-C-T FLG c.1754G>A p.G585E Missense 3/3 -
7-151856077-C-G KMT2C c.11541G>C p.K3847N Missense 44/59 -
9-21974764-G-T CDKN2A c.63C>A p.A21= Synonymous 1/3 -
9-21974764-G-C CDKN2A c.63C>G p.A21= Synonymous 1/3 -
9-21974764-G-A CDKN2A c.63C>T p.A21= Synonymous 1/3 -
9-21974777-G-A CDKN2A c.50C>T p.A17V Missense 1/3 -
1-186114606-C-T HMCN1 c.14338C>T p.R4780W Missense 92/107 -
1-186114607-G-A HMCN1 c.14339G>A p.R4780Q Missense 92/107 -
1-185969305-G-C HMCN1 c.4003G>C p.E1335Q Missense 26/107 -
1-186122946-T-C HMCN1 c.15083T>C p.F5028S Missense 97/107 -
1-186052052-C-A HMCN1 c.8843C>A p.T2948K Missense 57/107 -
6-51900420-G-A PKHD1 c.3197C>T p.S1066L Missense 28/67 -
6-51949682-G-A PKHD1 c.50C>T p.A17V Missense 2/67 -
6-51892687-G-A PKHD1 c.3568C>T p.L1190F Missense 31/67 -
6-51619708-G-A PKHD1 c.8671C>T p.R2891C Missense 56/67 -
1-158646048-A-C SPTA1 c.995T>G p.L332R Missense 8/52 -
1-237758830-C-A RYR2 c.4469C>A p.A1490E Missense 34/105 -
2-198265531-T-A SF3B1 c.2626A>T p.M876L Missense 18/25 -
19-52719042-C-T PPP2R1A c.818C>T p.A273V Missense 7/15 -
1-158646045-G-A SPTA1 c.998C>T p.S333F Missense 8/52 -
1-158583518-G-T SPTA1 c.6982C>A p.P2328T Missense 50/52 -
10-96535189-G-A CYP2C19 c.374G>A p.R125H Missense 3/9 -
10-96701709-T-C CYP2C9 c.263T>C p.I88T Missense 2/9 -
14-94847272-G-A SERPINA1 c.853C>T p.Q285* Nonsense 3/5 -
10-14950925-G-A DCLRE1C c.1561C>T p.L521F Missense 14/14 -
17-7579572-C-T TP53 c.115G>A p.A39T Missense 4/11 -
19-34856283-A-T GPI c.112A>T p.N38Y Missense 1/18 -
6-26027331-C-G H4C2 c.150G>C p.L50F Missense 1/1 -
4-119754779-G-A SEC24D c.73C>T p.H25Y Missense 2/23 -
20-31967305-G-A CDK5RAP1 c.1069C>T p.R357C Missense 8/14 -
5-137803316-A-G EGR1 c.1178A>G p.E393G Missense 2/2 -
1-159683629-C-T CRP c.361G>A p.A121T Missense 2/2 -
14-96864575-C-T AK7 c.269C>T p.P90L Missense 2/18 -
6-30638201-C-G DHX16 c.652G>C p.D218H Missense 4/20 -
20-34809819-G-A EPB41L1 c.2473G>A p.E825K Missense 20/22 -
5-137802641-C-T EGR1 c.503C>T p.P168L Missense 2/2 -
5-137801637-A-T EGR1 c.187A>T p.S63C Missense 1/2 -
5-137802868-A-G EGR1 c.730A>G p.K244E Missense 2/2 -
10-436716-G-A DIP2C c.1348C>T p.P450S Missense 11/37 -
5-137803019-C-T EGR1 c.881C>T p.A294V Missense 2/2 -
16-4164528-A-C ADCY9 c.916T>G p.S306A Missense 2/11 -
5-22078769-C-G CDH12 c.17G>C p.C6S Missense 5/15 -
X-38020230-C-G SRPX c.731G>C p.R244T Missense 6/10 -
20-60897370-C-T LAMA5 c.6301G>A p.E2101K Missense 47/80 -
9-37745690-G-A FRMPD1 c.3661G>A p.V1221I Missense 16/16 -
X-34148211-C-T FAM47A c.2185G>A p.V729I Missense 1/1 -
2-163003871-C-A GCG c.246G>T p.K82N Missense 3/6 -
1-228645400-T-C H2AW c.119A>G p.Y40C Missense 1/1 -
6-26158671-T-C H2BC5 c.274T>C p.S92P Missense 1/1 -
11-118966071-G-T H2AX c.34C>A p.R12S Missense 1/1 -
3-42727825-G-A KLHL40 c.715G>A p.E239K Missense 1/6 -
16-30133206-C-A MAPK3 c.292G>T p.E98* Nonsense 2/9 -
10-89692933-A-T PTEN c.417A>T p.L139F Missense 5/9 -
19-16908636-C-T NWD1 c.3398C>T p.T1133M Missense 16/19 -
7-140453183-A-C BRAF c.1752T>G p.L584= Synonymous 15/18 -
7-140453183-A-T BRAF c.1752T>A p.L584= Synonymous 15/18 -
17-41246314-C-T BRCA1 c.1234G>A p.V412I Missense 10/23 -
5-137803306-C-T EGR1 c.1168C>T p.H390Y Missense 2/2 -
16-3642722-C-G SLX4 c.2305G>C p.E769Q Missense 11/15 -
8-133899082-C-G TG c.1465C>G p.L489V Missense 9/48 -
13-49039407-C-T RB1 c.2392C>T p.R798W Missense 23/27 -
5-1293592-C-T TERT c.1409G>A p.R470H Missense 2/16 -
17-7979610-G-A ALOX12B c.1415C>T p.S472L Missense 11/15 -
2-96781257-C-G ADRA2B c.632G>C p.G211A Missense 1/1 -
3-134670486-C-T EPHB1 c.397C>T p.P133S Missense 3/16 -
7-13940403-C-T ETV1 c.1172G>A p.R391H Missense 13/14 -
X-136648994-C-A ZIC3 c.144C>A p.A48= Synonymous 1/3 -
X-136648994-C-G ZIC3 c.144C>G p.A48= Synonymous 1/3 -
X-136648994-C-T ZIC3 c.144C>T p.A48= Synonymous 1/3 -
17-9763385-C-T GLP2R c.892C>T p.R298W Missense 7/13 -
5-1280418-G-A TERT c.1805C>T p.S602L Missense 4/16 -
16-20430678-G-A ACSM5 c.544G>A p.E182K Missense 4/14 -
2-185802432-G-A ZNF804A c.2309G>A p.R770Q Missense 4/4 -
7-34698077-C-T NPSR1 c.53C>T p.T18M Missense 1/9 -
1-150307507-G-A PRPF3 c.830G>A p.R277H Missense 7/16 -
19-43576027-C-T PSG2 c.789G>A p.A263= Synonymous 4/6 -
19-43576027-C-G PSG2 c.789G>C p.A263= Synonymous 4/6 -
1-230372436-A-G GALNT2 c.572A>G p.E191G Missense 6/16 -
5-137801695-G-A EGR1 c.245G>A p.S82N Missense 1/2 -
16-20043241-C-T GPR139 c.878G>A p.R293H Missense 2/2 -
11-123886643-G-A OR10G4 c.362G>A p.R121H Missense 2/2 -
8-133900402-T-G TG c.2350T>G p.L784V Missense 10/48 -
5-137803372-A-G EGR1 c.1234A>G p.K412E Missense 2/2 -
14-20528321-A-T OR4L1 c.118A>T p.M40L Missense 1/1 -
5-137802863-C-G EGR1 c.725C>G p.A242G Missense 2/2 -
11-66639600-G-A PC c.31C>T p.L11= Synonymous 4/23 -
11-17190952-T-G PIK3C2A c.337A>C p.K113Q Missense 2/33 -
4-72631276-C-T GC c.346G>A p.G116S Missense 4/13 -
5-137803465-C-T EGR1 c.1327C>T p.P443S Missense 2/2 -
8-133879301-C-A TG c.56C>A p.A19D Missense 1/48 -
11-66620233-G-A PC c.1588C>T p.P530S Missense 14/23 -
4-72622535-C-G GC c.928G>C p.V310L Missense 8/13 -
5-137801562-A-G EGR1 c.112A>G p.M38V Missense 1/2 -
10-89711927-TA-T PTEN c.548delA p.K183Rfs*16 Frameshift 6/9 -
11-2182187-C-CG INS c.14_15insC p.M5Ifs*16 Frameshift 2/3 -
22-28194930-CTGT-C MN1 c.1599_1601delACA p.Q550del InFrameDeletion 1/2 -
5-147051354-G-A JAKMIP2 c.16C>T p.R6* Nonsense 2/22 -
8-49832563-C-T SNAI2 c.517G>A p.A173T Missense 2/3 -
5-38925336-A-G OSMR c.2075A>G p.D692G Missense 15/18 -
19-54545172-G-A VSTM1 c.551C>T p.A184V Missense 7/9 -
8-39775722-G-A IDO1 c.299G>A p.R100H Missense 3/10 -
10-79603221-C-T DLG5 c.1108G>A p.A370T Missense 6/32 -
17-62542046-G-A SMURF2 c.2167C>T p.P723S Missense 19/19 -
11-66638788-G-A PC c.485C>T p.A162V Missense 6/23 -
17-10419305-C-T MYH1 c.443G>A p.R148H Missense 5/40 -
3-137888985-A-T DBR1 c.453T>A p.Y151* Nonsense 4/8 -
3-137888985-A-C DBR1 c.453T>G p.Y151* Nonsense 4/8 -
19-56539568-G-A NLRP5 c.1969G>A p.V657I Missense 7/15 -
1-109369904-T-C AKNAD1 c.1859A>G p.K620R Missense 11/16 -
1-101198093-C-A VCAM1 c.1645C>A p.Q549K Missense 7/9 -
19-6230661-C-T MLLT1 c.340G>A p.V114M Missense 4/12 -
8-12957624-C-G DLC1 c.2222G>C p.S741T Missense 9/18 -
6-159178397-A-G SYTL3 c.1292A>G p.H431R Missense 14/18 -
6-33283609-C-T ZBTB22 c.1085G>A p.R362H Missense 2/2 -
15-72640388-C-G HEXA c.1073+1G>C - IntronicSNV - 9/13
7-117180354-C-T CFTR c.1070C>T p.A357V Missense 8/27 -
1-9783218-G-A PIK3CD c.2462G>A p.R821H Missense 20/24 -
8-133899007-C-G TG c.1390C>G p.P464A Missense 9/48 -
X-124097538-G-T TENM1 c.65C>A p.A22D Missense 1/32 -
16-89350963-C-T ANKRD11 c.1987G>A p.D663N Missense 9/13 -
X-22108574-G-A PHEX c.691G>A p.V231M Missense 6/22 -
11-58170794-G-A OR5B3 c.89C>T p.P30L Missense 2/2 -
22-41513662-A-G EP300 c.566A>G p.N189S Missense 2/31 -
17-11726227-C-A DNAH9 c.9122C>A p.P3041H Missense 48/69 -
4-72634129-TCT-ACA GC c.148_150delAGAinsTGT p.R50C Missense 3/13 -
4-72622439-C-T GC c.1024G>A p.V342I Missense 8/13 -
4-72622625-C-T GC c.838G>A p.E280K Missense 8/13 -
5-137801584-C-G EGR1 c.134C>G p.A45G Missense 1/2 -
5-137803214-T-C EGR1 c.1076T>C p.I359T Missense 2/2 -
5-137803729-A-G EGR1 c.1591A>G p.M531V Missense 2/2 -
5-137801581-G-A EGR1 c.131G>A p.G44E Missense 1/2 -
11-19246838-T-G E2F8 c.2351A>C p.N784T Missense 12/13 -
19-4409005-CC-AG CHAF1A c.209_210delCCinsAG p.A70E Missense 3/15 -
6-46766859-T-C MEP1A c.203T>C p.L68P Missense 5/14 -
2-198299704-G-A SF3B1 c.20C>T p.T7I Missense 1/25 -
11-66191839-C-T NPAS4 c.1478C>T p.S493L Missense 7/8 -
7-35280519-G-A TBX20 c.785C>T p.T262M Missense 5/8 -
19-40364079-G-A FCGBP c.14563C>T p.R4855C Missense 31/36 -
14-19378084-G-T OR11H12 c.491G>T p.W164L Missense 1/1 -
15-72640388-C-A HEXA c.1073+1G>T - IntronicSNV - 9/13
10-121612707-G-A MCMBP c.430-1C>T - IntronicSNV - 5/15
10-121612707-G-T MCMBP c.430-1C>A - IntronicSNV - 5/15
6-30043475-C-T RNF39 c.92G>A - Missense 1/4 -
19-35523482-G-A SCN1B c.91G>A p.V31M Missense 2/6 -
3-101231973-A-C SENP7 c.2T>G p.M1? Missense 1/24 -
20-5154186-A-T CDS2 c.75A>T p.A25= Synonymous 2/13 -
16-9984891-G-C GRIN2A c.1074C>G p.H358Q Missense 4/13 -
2-28152748-A-T BABAM2 c.178A>T p.I60L Missense 3/12 -
5-34922857-T-C BRIX1 c.494T>C p.L165P Missense 6/10 -
13-32937551-G-T BRCA2 c.8212G>T p.A2738S Missense 18/27 -
X-14882984-G-A FANCB c.649C>T p.L217F Missense 3/10 -
1-92430277-G-C BRDT c.286G>C p.E96Q Missense 3/19 -
5-34923115-G-A BRIX1 c.520G>A p.E174K Missense 7/10 -
5-34915926-C-A BRIX1 c.83C>A p.P28Q Missense 1/10 -
7-140477832-GAGGTGTAGGTGCTGT-G BRAF c.1462_1476del15 p.T488_P492del InFrameDeletion 12/18 -
5-34915921-G-A BRIX1 c.78G>A p.A26= Synonymous 1/10 -
5-34915921-G-C BRIX1 c.78G>C p.A26= Synonymous 1/10 -
5-34915921-G-T BRIX1 c.78G>T p.A26= Synonymous 1/10 -
17-59938838-A-T BRIP1 c.63T>A p.A21= Synonymous 2/20 -
17-59938838-A-G BRIP1 c.63T>C p.A21= Synonymous 2/20 -
17-59938838-A-C BRIP1 c.63T>G p.A21= Synonymous 2/20 -
X-14883582-A-G FANCB c.51T>C p.C17= Synonymous 3/10 -
X-14877387-C-T FANCB c.1021G>A p.V341I Missense 4/10 -
5-34915880-GC-TA BRIX1 c.37_38delGCinsTA p.A13* Nonsense 1/10 -
17-59870967-TGGG-T BRIP1 c.1462_1464delCCC p.P488del InFrameDeletion 10/20 -
17-7579477-AG-CT TP53 c.209_210delCTinsAG p.A70E Missense 4/11 -
7-140453136-ACTGTAGCTAGACCAAAAT-A BRAF c.1781_1798del18 p.D594_T599del InFrameDeletion 15/18 -
17-59934559-GC-AA BRIP1 c.238_239delGCinsTT p.A80F Missense 4/20 -
17-59861733-CC-AA BRIP1 c.1525_1526delGGinsTT p.G509F Missense 11/20 -
16-77389861-C-T ADAMTS18 c.1436G>A p.R479H Missense 9/23 -
16-77396028-C-T ADAMTS18 c.1190G>A p.W397* Nonsense 7/23 -
5-128956351-G-C ADAMTS19 c.1501G>C p.D507H Missense 9/23 -
4-72620712-T-A GC c.1147A>T p.T383S Missense 9/13 -
2-178257581-GC-AA AGPS c.64_65delGCinsAA p.A22K Missense 1/20 -
5-178541107-G-A ADAMTS2 c.3397C>T p.R1133W Missense 22/22 -
5-178553069-A-T ADAMTS2 c.2680T>A p.F894I Missense 18/22 -
5-178579222-C-T ADAMTS2 c.1550G>A p.C517Y Missense 10/22 -
12-43826126-G-A ADAMTS20 c.3077C>T p.A1026V Missense 21/39 -
4-73178108-T-A ADAMTS3 c.1821A>T p.K607N Missense 13/22 -
4-73156663-C-T ADAMTS3 c.2840G>A p.S947N Missense 20/22 -
15-79056079-G-T ADAMTS7 c.4702C>A p.H1568N Missense 22/24 -
15-79069817-C-G ADAMTS7 c.1436G>C p.G479A Missense 9/24 -
11-130275958-C-T ADAMTS8 c.2165G>A p.S722N Missense 9/9 -
3-64527264-T-C ADAMTS9 c.5230A>G p.R1744G Missense 34/40 -
11-62299338-C-A AHNAK c.2551G>T p.D851Y Missense 5/5 -
15-84582013-G-A ADAMTSL3 c.1870G>A p.A624T Missense 16/30 -
3-64601745-G-T ADAMTS9 c.2915C>A p.T972N Missense 20/40 -
1-154574423-C-T ADAR c.695G>A p.R232K Missense 2/15 -
15-79092874-C-T ADAMTS7 c.116G>A p.G39D Missense 2/24 -
21-46640863-G-C ADARB1 c.1860G>C p.E620D Missense 10/11 -
10-1229245-G-A ADARB2 c.2108C>T p.A703V Missense 10/10 -
1-33583699-C-T AZIN2 c.1226C>T p.A409V Missense 11/12 -
14-78365449-G-C ADCK1 c.589G>C p.V197L Missense 6/11 -
1-167829094-A-G ADCY10 c.1847T>C p.L616S Missense 16/33 -
2-25061434-C-A ADCY3 c.1413G>T p.E471D Missense 8/22 -
10-64565000-C-G ADO c.181C>G p.L61V Missense 1/1 -
16-50339756-G-A ADCY7 c.1748G>A p.R583H Missense 14/26 -
16-4164144-T-G ADCY9 c.1300A>C p.K434Q Missense 2/11 -
16-4164430-C-A ADCY9 c.1014G>T p.M338I Missense 2/11 -
7-31126076-T-C ADCYAP1R1 c.748T>C p.Y250H Missense 10/16 -
2-70900084-G-A ADD2 c.1796C>T p.A599V Missense 15/16 -
4-100232046-C-G ADH1B c.979G>C p.E327Q Missense 8/9 -
16-4164341-T-A ADCY9 c.1103A>T p.N368I Missense 2/11 -
4-100235042-A-T ADH1B c.764T>A p.L255Q Missense 6/9 -
4-100239290-G-A ADH1B c.172C>T p.L58= Synonymous 3/9 -
11-10327267-C-T ADM c.20C>T p.A7V Missense 2/4 -
10-64565221-C-A ADO c.402C>A p.D134E Missense 1/1 -
8-26722176-G-A ADRA1A c.311C>T p.A104V Missense 2/3 -
2-96781258-C-A ADRA2B c.631G>T p.G211W Missense 1/1 -
X-148044403-C-T AFF2 c.2849C>T p.T950I Missense 13/21 -
4-74357625-T-G AFM c.880T>G p.S294A Missense 8/15 -
2-64779995-G-A AFTPH c.1387G>A p.E463K Missense 2/10 -
2-64780025-G-T AFTPH c.1417G>T p.E473* Nonsense 2/10 -
2-64779453-G-A AFTPH c.845G>A p.G282D Missense 2/10 -
5-76331518-A-G AGGF1 c.466A>G p.T156A Missense 3/14 -
1-100327958-C-T AGL c.439C>T p.L147F Missense 4/34 -
1-100366293-G-A AGL c.3464G>A p.W1155* Nonsense 26/34 -
7-15430321-T-C AGMO c.797A>G p.N266S Missense 8/13 -
11-62294421-T-C AHNAK c.7468A>G p.R2490G Missense 5/5 -
11-62284755-T-C AHNAK c.17134A>G p.I5712V Missense 5/5 -
11-62297100-C-G AHNAK c.4789G>C p.V1597L Missense 5/5 -
14-105411479-G-A AHNAK2 c.10309C>T p.P3437S Missense 7/7 -
7-17370506-T-A AHR c.701T>A p.F234Y Missense 6/11 -
3-64587633-C-A ADAMTS9 c.4004G>T p.G1335V Missense 26/40 -
14-105419480-T-A AHNAK2 c.2308A>T p.K770* Nonsense 7/7 -
1-4832438-G-A AJAP1 c.1016G>A p.R339Q Missense 4/6 -
14-23445885-T-C AJUBA c.1145A>G p.N382S Missense 3/8 -
4-95444963-C-T PDLIM5 c.185C>T p.T62I Missense 3/13 -
4-95497159-C-T PDLIM5 c.684C>T p.S228= Synonymous 5/13 -
14-96887171-G-A AK7 c.511G>A p.V171I Missense 5/18 -
13-42874704-A-T AKAP11 c.1822A>T p.K608* Nonsense 8/13 -
6-151671522-C-A AKAP12 c.1996C>A p.P666T Missense 4/5 -
7-91711855-A-G AKAP9 c.8039A>G p.H2680R Missense 32/50 -
7-91730275-A-G AKAP9 c.11002A>G p.R3668G Missense 45/50 -
1-109394761-T-C AKNAD1 c.526A>G p.R176G Missense 2/16 -
1-4772573-A-G AJAP1 c.643A>G p.T215A Missense 2/6 -
14-96916140-G-T AK7 c.872G>T p.C291F Missense 9/18 -
4-74274412-A-T ALB c.372A>T p.E124D Missense 4/15 -
3-105252457-G-A ALCAM c.470G>A p.C157Y Missense 5/16 -
3-125824683-G-T ALDH1L1 c.2539C>A p.L847M Missense 22/23 -
3-125850235-T-C ALDH1L1 c.1615A>G p.K539E Missense 13/23 -
6-24505158-C-T ALDH5A1 c.671C>T p.T224I Missense 4/10 -
9-104192048-C-T ALDOB c.313G>A p.V105M Missense 3/9 -
12-38714267-G-T ALG10B c.674G>T p.G225V Missense 3/3 -
22-50302984-C-A ALG12 c.676G>T p.A226S Missense 6/10 -
X-110951452-C-T ALG13 c.581C>T p.P194L Missense 4/27 -
X-110952238-G-A ALG13 c.796G>A p.V266I Missense 5/27 -
9-21974788-AGC-TTA CDKN2A c.37_39delGCTinsTAA p.A13* Nonsense 1/3 -
14-23451129-G-A AJUBA c.347C>T p.P116L Missense 1/8 -
2-178257633-GG-AT AGPS c.116_117delGGinsAT p.R39H Missense 1/20 -
7-91570458-C-A AKAP9 c.45C>A p.A15= Synonymous 1/50 -
7-91570458-C-G AKAP9 c.45C>G p.A15= Synonymous 1/50 -
7-91570458-C-T AKAP9 c.45C>T p.A15= Synonymous 1/50 -
16-77468552-GC-CA ADAMTS18 c.40_41delGCinsTG p.A14W Missense 1/23 -
10-1405988-C-G ADARB2 c.312G>C p.E104D Missense 3/10 -
10-1405988-C-A ADARB2 c.312G>T p.E104D Missense 3/10 -
12-43777744-C-G ADAMTS20 c.4489G>C p.D1497H Missense 30/39 -
X-147733544-A-C AFF2 c.72A>C p.A24= Synonymous 2/21 -
X-147733544-A-G AFF2 c.72A>G p.A24= Synonymous 2/21 -
X-147733544-A-T AFF2 c.72A>T p.A24= Synonymous 2/21 -
6-151673340-G-T AKAP12 c.3814G>T p.D1272Y Missense 4/5 -
2-25141804-GC-AA ADCY3 c.52_53delGCinsTT p.A18F Missense 2/22 -
15-84373186-G-C ADAMTSL3 c.115G>C p.A39P Missense 3/30 -
5-178541106-C-T ADAMTS2 c.3398G>A p.R1133Q Missense 22/22 -
13-42875626-C-T AKAP11 c.2744C>T p.T915I Missense 8/13 -
2-178285014-G-A AGPS c.278G>A p.W93* Nonsense 2/20 -
2-178285015-G-A AGPS c.279G>A p.W93* Nonsense 2/20 -
4-72649688-AG-CT GC c.47_48delCTinsAG p.A16E Missense 1/13 -
3-64672500-G-A ADAMTS9 c.260C>T p.A87V Missense 2/40 -
4-73181603-AG-CT ADAMTS3 c.1570_1571delCTinsAG p.L524S Missense 11/22 -
15-84651793-G-A ADAMTSL3 c.3413G>A p.W1138* Nonsense 21/30 -
15-84651794-G-A ADAMTSL3 c.3414G>A p.W1138* Nonsense 21/30 -
4-74350023-A-C AFM c.186A>C p.E62D Missense 3/15 -
4-74350023-A-T AFM c.186A>T p.E62D Missense 3/15 -
15-84506875-C-T ADAMTSL3 c.635C>T p.A212V Missense 7/30 -
8-41470442-C-T GPAT4 c.874C>T p.R292C Missense 8/13 -
1-150531610-C-T ADAMTSL4 c.2732C>T p.T911I Missense 16/19 -
19-40743973-C-A AKT2 c.734G>T p.R245L Missense 9/14 -
11-130297846-CG-AT ADAMTS8 c.335_336delCGinsAT p.S112Y Missense 1/9 -
5-137802622-GTG-ATC EGR1 c.484_486delGTGinsATC p.V162I Missense 2/2 -
2-178257582-CA-AC AGPS c.65_66delCAinsAC p.A22D Missense 1/20 -
7-91630211-A-G AKAP9 c.980A>G p.K327R Missense 8/50 -
4-74283270-A-G ALB c.1312A>G p.K438E Missense 11/15 -
9-21970968-CAG-AAA CDKN2A c.388_390delCTGinsTTT p.L130F Missense 2/3 -
3-105266032-CTT-ATG ALCAM c.1144_1146delCTTinsATG p.L382M Missense 10/16 -
1-100327174-T-C AGL c.198T>C p.D66= Synonymous 3/34 -
14-105420098-T-C AHNAK2 c.1690A>G p.R564G Missense 7/7 -
9-116151734-C-A ALAD c.785G>T p.R262L Missense 10/12 -
8-41478498-A-G GPAT4 c.1349A>G p.H450R Missense 13/13 -
11-10327302-GCT-ATG ADM c.55_57delGCTinsATG p.A19M Missense 2/4 -
5-64748692-A-G ADAMTS6 c.685T>C p.Y229H Missense 5/25 -
1-100316640-A-C AGL c.42A>C p.E14D Missense 2/34 -
1-100316640-A-T AGL c.42A>T p.E14D Missense 2/34 -
8-41466963-C-T GPAT4 c.194C>T p.A65V Missense 3/13 -
9-21974790-C-G CDKN2A c.37G>C p.A13P Missense 1/3 -
16-77468565-C-A ADAMTS18 c.28G>T p.A10S Missense 1/23 -
22-22162042-C-G MAPK1 c.213G>C p.E71D Missense 2/9 -
22-22162042-C-A MAPK1 c.213G>T p.E71D Missense 2/9 -
7-17367407-G-C AHR c.385G>C p.V129L Missense 4/11 -
3-125872424-T-C ALDH1L1 c.721A>G p.K241E Missense 7/23 -
11-62284754-A-G AHNAK c.17135T>C p.I5712T Missense 5/5 -
5-178771091-C-G ADAMTS2 c.211G>C p.V71L Missense 2/22 -
5-178771091-C-A ADAMTS2 c.211G>T p.V71L Missense 2/22 -
9-104193111-GC-CA ALDOB c.58_59delGCinsTG p.A20C Missense 2/9 -
1-154574579-G-A ADAR c.539C>T p.A180V Missense 2/15 -
1-167825611-T-C ADCY10 c.1963A>G p.R655G Missense 17/33 -
7-140449167-C-A BRAF c.1912G>T p.D638Y Missense 16/18 -
7-91726282-C-T AKAP9 c.10009C>T p.P3337S Missense 41/50 -
11-130297982-C-T ADAMTS8 c.200G>A p.R67H Missense 1/9 -
9-21974789-GC-AG CDKN2A c.37_38delGCinsCT p.A13L Missense 1/3 -
1-150531845-C-A ADAMTSL4 c.2846C>A p.S949Y Missense 17/19 -
3-64673251-G-A ADAMTS9 c.83C>T p.A28V Missense 1/40 -
15-79059851-CT-TA ADAMTS7 c.2728_2729delAGinsTA p.S910Y Missense 18/24 -
1-33583639-C-T AZIN2 c.1166C>T p.A389V Missense 11/12 -
15-84651130-C-T ADAMTSL3 c.2750C>T p.T917I Missense 21/30 -
16-50325795-GG-AT ADCY7 c.524_525delGGinsAT p.R175H Missense 4/26 -
13-42874766-A-T AKAP11 c.1884A>T p.L628F Missense 8/13 -
13-42874766-A-C AKAP11 c.1884A>C p.L628F Missense 8/13 -
3-105238996-T-C ALCAM c.159T>C p.F53= Synonymous 2/16 -
7-17367437-TC-AT AHR c.415_416delTCinsAT p.S139I Missense 4/11 -
4-100047817-T-A ADH4 c.1046A>T p.D349V Missense 8/9 -
16-77468554-AGC-CCA ADAMTS18 c.37_39delGCTinsTGG p.A13W Missense 1/23 -
13-42872879-G-A AKAP11 c.562G>A p.V188I Missense 7/13 -
1-33560301-T-A AZIN2 c.740T>A p.V247E Missense 8/12 -
4-100052733-C-T ADH4 c.765G>A p.P255= Synonymous 6/9 -
4-100052733-C-G ADH4 c.765G>C p.P255= Synonymous 6/9 -
14-105422998-GC-CA AHNAK2 c.241_242delGCinsTG p.A81C Missense 4/7 -
5-64769451-G-A ADAMTS6 c.50C>T p.A17V Missense 2/25 -
14-105416999-C-G AHNAK2 c.4789G>C p.D1597H Missense 7/7 -
16-50334652-A-T ADCY7 c.1103A>T p.D368V Missense 9/26 -
10-1405428-C-A ADARB2 c.872G>T p.R291L Missense 3/10 -
5-128796968-G-T ADAMTS19 c.247G>T p.V89L Missense 2/23 -
2-96781257-C-A ADRA2B c.632G>T p.G211V Missense 1/1 -
8-121475944-C-G MTBP c.990C>G p.N330K Missense 10/22 -
3-49936055-C-T MST1R c.1615G>A p.A539T Missense 4/20 -
3-49940312-G-T MST1R c.731C>A p.S244Y Missense 1/20 -
3-49724384-C-G MST1 c.724G>C p.G242R Missense 6/18 -
8-121528273-T-G MTBP c.2088T>G p.F696L Missense 18/22 -
8-121457748-G-A MTBP c.38G>A p.G13E Missense 1/22 -
12-107372093-C-T MTERF2 c.400G>A p.E134K Missense 3/3 -
14-64884656-G-C MTHFD1 c.529G>C p.V177L Missense 7/28 -
8-121528296-C-T MTBP c.2111C>T p.P704L Missense 18/22 -
4-75147202-G-A MTHFD2L c.866G>A p.G289D Missense 7/8 -
X-149832053-A-G MTM1 c.1615A>G p.I539V Missense 14/15 -
1-149902758-C-A MTMR11 c.1390G>T p.D464Y Missense 14/17 -
5-32239191-C-G MTMR12 c.1260G>C p.Q420H Missense 13/16 -
5-32230250-C-A MTMR12 c.1878G>T p.L626F Missense 16/16 -
X-63551555-G-A MTMR8 c.1234C>T p.Q412* Nonsense 11/14 -
19-9069428-G-T MUC16 c.18018C>A p.H6006Q Missense 3/84 -
19-9069489-G-T MUC16 c.17957C>A p.A5986E Missense 3/84 -
19-9082462-G-A MUC16 c.9353C>T p.S3118F Missense 1/84 -
19-9090520-G-T MUC16 c.1295C>A p.T432N Missense 1/84 -
19-9074980-T-C MUC16 c.12466A>G p.T4156A Missense 3/84 -
19-9070335-G-A MUC16 c.17111C>T p.T5704I Missense 3/84 -
19-9049457-G-C MUC16 c.32174C>G p.P10725R Missense 5/84 -
19-9057556-C-T MUC16 c.29890G>A p.G9964R Missense 3/84 -
19-9084433-G-T MUC16 c.7382C>A p.T2461K Missense 1/84 -
11-1029335-C-G MUC6 c.1168G>C p.E390Q Missense 10/33 -
7-100679466-C-A MUC17 c.4769C>A p.A1590D Missense 3/13 -
7-100684160-C-T MUC17 c.9463C>T p.P3155S Missense 3/13 -
7-100675605-A-G MUC17 c.908A>G p.N303S Missense 3/13 -
7-100679804-G-A MUC17 c.5107G>A p.A1703T Missense 3/13 -
6-30954379-A-T MUC21 c.427A>T p.T143S Missense 2/3 -
11-1264048-G-A MUC5B c.5938G>A p.V1980I Missense 31/49 -
11-1281040-G-A MUC5B c.16768G>A p.A5590T Missense 45/49 -
11-1269764-G-A MUC5B c.11654G>A p.R3885H Missense 31/49 -
11-1271213-C-A MUC5B c.13103C>A p.T4368K Missense 31/49 -
11-1275535-A-T MUC5B c.15431A>T p.D5144V Missense 34/49 -
4-71339788-T-C MUC7 c.50T>C p.F17S Missense 2/3 -
4-71346814-C-G MUC7 c.353C>G p.S118* Nonsense 3/3 -
9-113563207-C-G MUSK c.2549C>G p.T850S Missense 15/15 -
21-42812881-A-G MX1 c.659A>G p.N220S Missense 9/17 -
X-3242413-T-G MXRA5 c.1313A>C p.D438A Missense 5/7 -
17-4453510-T-G MYBBP1A c.1162A>C p.T388P Missense 9/26 -
20-42331451-G-A MYBL2 c.1273G>A p.E425K Missense 8/14 -
19-50944246-A-G MYBPC2 c.682A>G p.K228E Missense 8/28 -
19-50940753-C-T MYBPC2 c.487C>T p.Q163* Nonsense 6/28 -
1-109839501-C-T MYBPHL c.634G>A p.G212S Missense 5/9 -
13-77740543-A-T MYCBP2 c.6261T>A p.H2087Q Missense 41/83 -
13-77763175-T-C MYCBP2 c.4162A>G p.T1388A Missense 30/83 -
8-128752687-A-T MYC c.848A>T p.E283V Missense 3/3 -
17-10406153-C-T MYH1 c.3013G>A p.E1005K Missense 24/40 -
17-8397110-C-G MYH10 c.4150G>C p.E1384Q Missense 32/43 -
17-10398378-G-A MYH1 c.5336C>T p.T1779I Missense 37/40 -
17-10401968-G-A MYH1 c.4156C>T p.R1386C Missense 30/40 -
19-50812344-G-A MYH14 c.5870G>A p.G1957D Missense 42/43 -
17-10443979-G-C MYH2 c.940C>G p.P314A Missense 11/40 -
17-10432293-C-A MYH2 c.3458G>T p.S1153I Missense 27/40 -
17-10558261-C-A MYH3 c.121G>T p.V41L Missense 3/41 -
14-23855756-C-T MYH6 c.4727G>A p.R1576Q Missense 33/39 -
14-23866411-C-T MYH6 c.2018G>A p.R673H Missense 17/39 -
20-33582119-C-T MYH7B c.2741C>T p.A914V Missense 27/45 -
17-10318635-C-T MYH8 c.715G>A p.V239M Missense 8/40 -
3-123345769-G-A MYLK c.5134C>T p.Q1712* Nonsense 31/34 -
3-123345699-C-T MYLK c.5204G>A p.R1735Q Missense 31/34 -
17-31082524-A-T MYO1D c.1453T>A p.F485I Missense 11/22 -
15-59510196-C-T MYO1E c.1001G>A p.G334D Missense 10/28 -
3-123383036-G-A MYLK c.3901C>T p.R1301C Missense 23/34 -
16-46764581-C-A MYLK3 c.1492G>T p.E498* Nonsense 5/13 -
5-16769308-G-A MYO10 c.935C>T p.A312V Missense 10/41 -
17-18057452-A-G MYO15A c.8096A>G p.Y2699C Missense 44/66 -
17-18022676-C-T MYO15A c.562C>T p.R188W Missense 2/66 -
17-18022790-C-T MYO15A c.676C>T p.L226F Missense 2/66 -
22-26423340-G-A MYO18B c.7400G>A p.G2467D Missense 43/44 -
22-26219630-G-A MYO18B c.2680G>A p.E894K Missense 13/44 -
17-34870998-T-A MYO19 c.575A>T p.N192I Missense 8/26 -
15-52486124-T-C MYO5C c.5204A>G p.K1735R Missense 41/41 -
6-76551012-T-C MYO6 c.733T>C p.Y245H Missense 9/35 -
16-46766428-G-A MYLK3 c.1154C>T p.P385L Missense 4/13 -
19-9074978-G-T MUC16 c.12468C>A p.T4156= Synonymous 3/84 -
19-9074978-G-C MUC16 c.12468C>G p.T4156= Synonymous 3/84 -
19-9074978-G-A MUC16 c.12468C>T p.T4156= Synonymous 3/84 -
17-10400436-G-A MYH1 c.4606C>T p.Q1536* Nonsense 33/40 -
17-10553714-AC-TT MYH3 c.509_510delGTinsAA p.R170Q Missense 6/41 -
3-123471248-CCT-ACA MYLK c.301_303delAGGinsTGT p.R101C Missense 5/34 -
6-135509003-A-T MYB c.173A>T p.N58I Missense 3/16 -
14-64908830-C-T MTHFD1 c.1943C>T p.S648F Missense 20/28 -
3-187444623-CT-TG BCL6 c.1603_1604delAGinsCA p.R535Q Missense 7/10 -
22-26298683-C-T MYO18B c.4927C>T p.Q1643* Nonsense 30/44 -
17-27448942-G-A MYO18A c.1121C>T p.P374L Missense 4/42 -
X-3240030-TCT-ACA MXRA5 c.3694_3696delAGAinsTGT p.R1232C Missense 5/7 -
17-10399439-C-T MYH1 c.4997G>A p.R1666Q Missense 35/40 -
7-100679806-C-A MUC17 c.5109C>A p.A1703= Synonymous 3/13 -
7-100679806-C-G MUC17 c.5109C>G p.A1703= Synonymous 3/13 -
7-100679806-C-T MUC17 c.5109C>T p.A1703= Synonymous 3/13 -
19-50752958-C-T MYH14 c.1534C>T p.Q512* Nonsense 14/43 -
15-59510200-C-T MYO1E c.997G>A p.G333R Missense 10/28 -
15-59510200-C-G MYO1E c.997G>C p.G333R Missense 10/28 -
14-23902903-GGC-TTA MYH7 c.37_39delGCCinsTAA p.A13* Nonsense 3/40 -
17-10535975-G-A MYH3 c.4774C>T p.Q1592* Nonsense 34/41 -
X-3235951-C-T MXRA5 c.5771G>A p.G1924D Missense 6/7 -
9-113530348-C-T MUSK c.1169C>T p.P390L Missense 9/15 -
8-121457765-GCC-ATG MTBP c.55_57delGCCinsATG p.A19M Missense 1/22 -
21-42748918-TTC-GAG MX2 c.85_87delTTCinsGAG p.F29E Missense 2/14 -
14-23855639-CT-TG MYH6 c.4843_4844delAGinsCA p.R1615Q Missense 33/39 -
1-109849555-GC-CA MYBPHL c.58_59delGCinsTG p.A20C Missense 1/9 -
X-3238745-G-A MXRA5 c.4981C>T p.Q1661* Nonsense 5/7 -
14-64909096-C-T MTHFD1 c.2112C>T p.L704= Synonymous 21/28 -
14-64909096-C-G MTHFD1 c.2112C>G p.L704= Synonymous 21/28 -
14-64909096-C-A MTHFD1 c.2112C>A p.L704= Synonymous 21/28 -
6-30954331-A-T MUC21 c.379A>T p.T127S Missense 2/3 -
X-149807440-G-C MTM1 c.469G>C p.E157Q Missense 7/15 -
11-1244420-GC-AA MUC5B c.67_68delGCinsAA p.A23K Missense 1/49 -
14-64877867-G-C MTHFD1 c.186G>C p.E62D Missense 3/28 -
14-64877867-G-T MTHFD1 c.186G>T p.E62D Missense 3/28 -
11-1262194-G-C MUC5B c.4084G>C p.E1362Q Missense 31/49 -
17-10402067-C-G MYH1 c.4057G>C p.E1353Q Missense 30/40 -
7-91503118-A-C MTERF1 c.990T>G p.D330E Missense 3/3 -
7-91503118-A-T MTERF1 c.990T>A p.D330E Missense 3/3 -
9-113444989-GCC-ATG MUSK c.115_117delGCCinsATG p.A39M Missense 2/15 -
8-121500503-A-G MTBP c.1270A>G p.I424V Missense 12/22 -
17-31065375-G-A MYO1D c.1642C>T p.P548S Missense 14/22 -
17-10323517-C-A MYH8 c.28G>T p.A10S Missense 3/40 -
X-149831942-A-G MTM1 c.1504A>G p.I502V Missense 14/15 -
X-3238331-G-A MXRA5 c.5395C>T p.P1799S Missense 5/7 -
17-10419922-GC-CG MYH1 c.37_38delGCinsCG p.A13R Missense 3/40 -
17-34883449-AA-TC MYO19 c.232_233delTTinsGA p.F78D Missense 5/26 -
19-50958823-A-G MYBPC2 c.2260A>G p.T754A Missense 20/28 -
X-63579314-C-A MTMR8 c.118G>T p.A40S Missense 2/14 -
5-16675064-C-T MYO10 c.4862G>A p.G1621D Missense 35/41 -
11-1262966-CC-AG MUC5B c.4856_4857delCCinsAG p.A1619E Missense 31/49 -
11-1014000-CC-GT MUC6 c.7040_7041delGGinsAC p.G2347D Missense 32/33 -
11-1244420-GCA-ATG MUC5B c.67_69delGCAinsATG p.A23M Missense 1/49 -
17-27448889-C-A MYO18A c.1174G>T p.D392Y Missense 4/42 -
12-92539262-G-A BTG1 c.50C>T p.A17V Missense 1/2 -
17-18052619-GG-AC MYO15A c.7046_7047delGGinsAC p.G2349D Missense 34/66 -
11-1265153-GA-AC MUC5B c.7043_7044delGAinsAC p.G2348D Missense 31/49 -
21-42748990-GAG-TTT MX2 c.157_159delGAGinsTTT p.E53F Missense 2/14 -
14-64882196-G-C MTHFD1 c.361G>C p.E121Q Missense 5/28 -
4-75023907-GCG-TTT MTHFD2L c.52_54delGCGinsTTT p.A18F Missense 1/8 -
5-32276810-TTC-AAA MTMR12 c.118_120delGAAinsTTT p.E40F Missense 2/16 -
19-9069492-C-A MUC16 c.17954G>T p.S5985I Missense 3/84 -
19-9090519-A-T MUC16 c.1296T>A p.T432= Synonymous 1/84 -
19-9090519-A-C MUC16 c.1296T>G p.T432= Synonymous 1/84 -
19-9090519-A-G MUC16 c.1296T>C p.T432= Synonymous 1/84 -
3-49724229-G-A MST1 c.735C>T p.L245= Synonymous 7/18 -
3-49724229-G-C MST1 c.735C>G p.L245= Synonymous 7/18 -
3-49724229-G-T MST1 c.735C>A p.L245= Synonymous 7/18 -
11-1033019-G-A MUC6 c.109C>T p.Q37* Nonsense 2/33 -
3-49940961-G-A MST1R c.82C>T p.Q28* Nonsense 1/20 -
19-50958815-C-G MYBPC2 c.2252C>G p.T751S Missense 20/28 -
19-50958814-A-T MYBPC2 c.2251A>T p.T751S Missense 20/28 -
19-9091737-G-T MUC16 c.78C>A p.A26= Synonymous 1/84 -
19-9091737-G-C MUC16 c.78C>G p.A26= Synonymous 1/84 -
19-9091737-G-A MUC16 c.78C>T p.A26= Synonymous 1/84 -
7-100663490-CA-AC MUC17 c.74_75delCAinsAC p.A25D Missense 1/13 -
19-9089534-T-A MUC16 c.2281A>T p.T761S Missense 1/84 -
7-91504044-C-G MTERF1 c.64G>C p.A22P Missense 3/3 -
5-32234005-C-A MTMR12 c.1548G>T p.L516F Missense 15/16 -
5-32234005-C-G MTMR12 c.1548G>C p.L516F Missense 15/16 -
22-26165102-G-A MYO18B c.1219G>A p.E407K Missense 4/44 -
X-149826441-G-A MTM1 c.1201G>A p.E401K Missense 11/15 -
X-149807458-G-A MTM1 c.487G>A p.G163R Missense 7/15 -
X-149807458-G-C MTM1 c.487G>C p.G163R Missense 7/15 -
5-32312900-G-T MTMR12 c.45C>A p.A15= Synonymous 1/16 -
5-32312900-G-C MTMR12 c.45C>G p.A15= Synonymous 1/16 -
5-32312900-G-A MTMR12 c.45C>T p.A15= Synonymous 1/16 -
22-26159300-G-A MYO18B c.142G>A p.E48K Missense 3/44 -
11-1031981-AA-TC MUC6 c.187_188delTTinsGA p.F63D Missense 3/33 -
14-64855185-GC-TG MTHFD1 c.40_41delGCinsTG p.A14W Missense 1/28 -
3-49724691-C-A MST1 c.498G>T p.L166= Synonymous 5/18 -
3-49724691-C-T MST1 c.498G>A p.L166= Synonymous 5/18 -
3-49724691-C-G MST1 c.498G>C p.L166= Synonymous 5/18 -
3-49724693-G-A MST1 c.496C>T p.L166= Synonymous 5/18 -
14-23894591-C-T MYH7 c.2323G>A p.E775K Missense 21/40 -
1-149908502-GGC-CCA MTMR11 c.37_39delGCCinsTGG p.A13W Missense 1/17 -
1-149901740-CAG-AAA MTMR11 c.1714_1716delCTGinsTTT p.L572F Missense 16/17 -
8-121457766-C-A MTBP c.56C>A p.A19D Missense 1/22 -
19-50949222-A-G MYBPC2 c.1219A>G p.I407V Missense 12/28 -
7-100676046-GA-AC MUC17 c.1349_1350delGAinsAC p.G450D Missense 3/13 -
6-30954015-A-C MUC21 c.63A>C p.A21= Synonymous 2/3 -
6-30954015-A-G MUC21 c.63A>G p.A21= Synonymous 2/3 -
6-30954015-A-T MUC21 c.63A>T p.A21= Synonymous 2/3 -
1-149908504-C-A MTMR11 c.37G>T p.A13S Missense 1/17 -
14-64915001-G-A MTHFD1 c.2245G>A p.G749R Missense 23/28 -
19-50783500-G-C MYH14 c.4150G>C p.E1384Q Missense 32/43 -
17-10417148-G-T MYH1 c.731C>A p.S244Y Missense 8/40 -
10-33491839-C-A NRP1 c.1844G>T p.G615V Missense 11/17 -
17-48596401-A-T MYCBPAP c.848A>T p.E240V Missense 6/19 -
5-32230017-G-A MTMR12 c.2111C>T p.S704F Missense 16/16 -
17-10443979-G-A MYH2 c.940C>T p.P314S Missense 11/40 -
7-100679782-AACTGTCAGAACAACACCGGTGGCCAGC-GCCTGTCAGCACCACACTGGTGGCCACT MUC17 c.5085_5112delinsGCCTGTCAGCACCACACTGGTGGCCACT p.I1695_S1704delinsMPVSTTLVAT MultiAAMissense 3/13 -
1-52257322-T-C NRDC c.2888A>G p.Y963C Missense 27/31 -
8-32585527-C-T NRG1 c.563C>T p.T188I Missense 6/12 -
5-139260543-G-A NRG2 c.889C>T p.Q297* Nonsense 3/10 -
10-33510667-A-G NRP1 c.1262T>C p.V421A Missense 8/17 -
10-33502412-G-T NRP1 c.1516C>A p.R506= Synonymous 9/17 -
11-64415766-C-T NRXN2 c.3328G>A p.V1110I Missense 17/23 -
5-176673763-A-G NSD1 c.4463A>G p.N1488S Missense 10/23 -
5-176636938-A-G NSD1 c.1538A>G p.K513R Missense 5/23 -
10-18840835-C-A NSUN6 c.988G>T p.G330* Nonsense 9/11 -
4-40776343-A-G NSUN7 c.550A>G p.I184V Missense 5/12 -
1-52277716-A-T NRDC c.1729T>A p.L577M Missense 15/31 -
6-86195042-T-C NT5E c.841T>C p.Y281H Missense 4/9 -
12-96180969-A-C NTN4 c.333T>G p.D111E Missense 2/10 -
9-135073480-G-T NTNG2 c.341G>T p.R114L Missense 3/8 -
15-88679156-T-G NTRK3 c.881A>C p.N294T Missense 9/20 -
2-11809697-G-A NTSR2 c.559C>T p.P187S Missense 1/4 -
5-102895751-C-G NUDT12 c.199G>C p.E67Q Missense 2/7 -
11-67395569-C-G NUDT8 c.559G>C p.E187Q Missense 4/4 -
13-45517759-C-G NUFIP1 c.1189G>C p.D397H Missense 9/10 -
11-71734181-T-C NUMA1 c.221A>G p.H74R Missense 6/27 -
1-229606430-G-A NUP133 c.1973C>T p.S658F Missense 15/26 -
1-229623237-C-T NUP133 c.1318G>A p.E440K Missense 10/26 -
5-176678758-T-A NSD1 c.4669T>A p.L1557I Missense 12/23 -
17-726925-C-T NXN c.559G>A p.E187K Missense 3/8 -
9-134072930-A-G NUP214 c.4049A>G p.N1350S Missense 29/36 -
19-16910932-T-C NWD1 c.3695T>C p.I1232T Missense 17/19 -
X-102339349-T-A NXF3 c.272A>T p.E91V Missense 3/20 -
7-100086968-G-T NYAP1 c.1624G>T p.V542L Missense 4/7 -
14-24880401-G-A NYNRIN c.2534G>A p.R845Q Missense 5/9 -
10-95326832-A-G FFAR4 c.355A>G p.T119A Missense 1/3 -
12-113447028-C-A OAS2 c.2032C>A p.P678T Missense 10/10 -
12-113403801-G-A OAS3 c.2656G>A p.D886N Missense 12/16 -
5-137801677-G-A EGR1 c.227G>A p.G76D Missense 1/2 -
5-137801583-G-T EGR1 c.133G>T p.A45S Missense 1/2 -
5-68805542-G-A OCLN c.625G>A p.G209S Missense 3/9 -
X-128709895-T-C OCRL c.1735T>C p.F579L Missense 17/24 -
X-123637463-G-A TENM1 c.3392C>T p.S1131F Missense 19/32 -
11-78437190-C-T TENM4 c.3484G>A p.E1162K Missense 23/34 -
X-13778527-A-T OFD1 c.1948A>T p.R650* Nonsense 16/23 -
X-13778355-T-G OFD1 c.1776T>G p.N592K Missense 16/23 -
8-145113237-G-T OPLAH c.854C>A p.A285D Missense 7/28 -
X-128695187-T-C OCRL c.856T>C p.F286L Missense 10/24 -
11-78419461-T-C TENM4 c.4154A>G p.N1385S Missense 27/34 -
20-62730072-G-A OPRL1 c.1033G>A p.V345M Missense 5/5 -
11-55735773-T-C OR10AG1 c.167A>G p.N56S Missense 1/1 -
14-22102364-G-A OR10G2 c.635C>T p.A212V Missense 1/1 -
19-15839268-C-T OR10H2 c.415C>T p.R139W Missense 1/1 -
19-15839218-G-A OR10H2 c.365G>A p.R122H Missense 1/1 -
1-158436162-G-A OR10K1 c.811G>A p.D271N Missense 2/2 -
1-158548923-G-T OR10X1 c.767C>A p.T256N Missense 1/1 -
1-158576999-C-A OR10Z1 c.771C>A p.F257L Missense 2/2 -
9-107331756-T-A OR13C8 c.308T>A p.I103N Missense 1/1 -
9-107267381-G-A OR13F1 c.838G>A p.G280R Missense 1/1 -
1-248512212-G-A OR14C36 c.136G>A p.V46I Missense 1/1 -
9-125273586-G-T OR1J2 c.506G>T p.C169F Missense 1/1 -
9-125315950-C-G OR1N2 c.502C>G p.L154V Missense 1/1 -
9-125316381-C-A OR1N2 c.933C>A p.N297K Missense 1/1 -
14-19378174-G-A OR11H12 c.581G>A p.C194Y Missense 1/1 -
6-27879286-C-T OR2B2 c.812G>A p.G271E Missense 1/1 -
16-3405956-G-C OR2C1 c.16G>C p.D6H Missense 1/1 -
1-248685767-G-T OR2G6 c.820G>T p.V274F Missense 2/2 -
6-29556434-C-T OR2H2 c.713C>T p.T238I Missense 2/2 -
6-29141930-G-A OR2J2 c.518G>A p.R173H Missense 2/2 -
1-248224344-C-T OR2L3 c.361C>T p.R121C Missense 2/2 -
1-248344320-T-C OR2M2 c.1033T>C p.Y345H Missense 2/2 -
1-248367157-C-T OR2M3 c.788C>T p.T263I Missense 2/2 -
1-248366655-G-T OR2M3 c.286G>T p.G96C Missense 2/2 -
11-64418961-T-C NRXN2 c.2684A>G p.Q895R Missense 14/23 -
16-56782211-GC-TT NUP93 c.52_53delGCinsTT p.A18F Missense 2/22 -
11-64457938-TAA-CAT NRXN2 c.787_789delTTAinsATG p.L263M Missense 5/23 -
11-3723997-C-T NUP98 c.3208G>A p.V1070I Missense 23/33 -
15-88576149-G-C NTRK3 c.1524C>G p.I508M Missense 14/20 -
12-113376450-GC-CG OAS3 c.115_116delGCinsCG p.A39R Missense 1/16 -
8-133053332-A-C OC90 c.416T>G p.L139R Missense 6/14 -
12-96052917-C-A NTN4 c.1832G>T p.W611L Missense 10/10 -
11-78443505-GG-CA TENM4 c.2993_2994delCCinsTG p.T998M Missense 21/34 -
14-24884346-G-C NYNRIN c.3391G>C p.D1131H Missense 9/9 -
1-229577762-CG-AT NUP133 c.3359_3360delCGinsAT p.P1120H Missense 26/26 -
X-128694544-G-T OCRL c.740G>T p.W247L Missense 9/24 -
X-128674453-G-C OCRL c.37G>C p.A13P Missense 1/24 -
1-229586279-A-G NUP133 c.3173T>C p.I1058T Missense 23/26 -
12-113400668-C-T OAS3 c.2045C>T p.A682V Missense 9/16 -
19-41192862-G-A NUMBL c.63C>T p.A21= Synonymous 2/10 -
1-248366656-G-T OR2M3 c.287G>T p.G96V Missense 2/2 -
X-13754738-TGT-GAG OFD1 c.253_255delTGTinsGAG p.C85E Missense 3/23 -
1-229600593-C-T NUP133 c.2329G>A p.V777I Missense 18/26 -
17-882684-C-T NXN c.235G>A p.E79K Missense 1/8 -
11-64453203-G-C NRXN2 c.1067C>G p.A356G Missense 6/23 -
11-71725160-CT-AA NUMA1 c.3388_3389delAGinsTT p.S1130F Missense 15/27 -
11-66824402-A-G RHOD c.29A>G p.E10G Missense 1/5 -
X-124097538-GC-AT TENM1 c.64_65delGCinsAT p.A22I Missense 1/32 -
X-123697622-G-A TENM1 c.2264C>T p.A755V Missense 13/32 -
11-67397326-TG-GT NUDT8 c.56_57delCAinsAC p.A19D Missense 1/4 -
5-176637556-C-T NSD1 c.2156C>T p.A719V Missense 5/23 -
11-71724377-G-C NUMA1 c.4172C>G p.A1391G Missense 15/27 -
X-128674453-GCC-TGG OCRL c.37_39delGCCinsTGG p.A13W Missense 1/24 -
9-125316378-G-A OR1N2 c.930G>A p.R296= Synonymous 1/1 -
9-125316376-A-C OR1N2 c.886A>C p.R296= Synonymous 1/1 -
12-96059624-C-A NTN4 c.1712G>T p.W571L Missense 9/10 -
12-11905433-C-T ETV6 c.83C>T p.A28V Missense 2/8 -
1-229600544-G-A NUP133 c.2378C>T p.A793V Missense 18/26 -
5-102890549-C-G NUDT12 c.970G>C p.V324L Missense 5/7 -
5-102890549-C-A NUDT12 c.970G>T p.V324L Missense 5/7 -
12-113376450-GCC-ATG OAS3 c.115_117delGCCinsATG p.A39M Missense 1/16 -
9-107266584-T-G OR13F1 c.41T>G p.F14C Missense 1/1 -
19-41192862-G-T NUMBL c.63C>A p.A21= Synonymous 2/10 -
19-41192862-G-C NUMBL c.63C>G p.A21= Synonymous 2/10 -
11-55735772-A-G OR10AG1 c.168T>C p.N56= Synonymous 1/1 -
16-56782198-T-A NUP93 c.39T>A p.A13= Synonymous 2/22 -
16-56782198-T-C NUP93 c.39T>C p.A13= Synonymous 2/22 -
16-56782198-T-G NUP93 c.39T>G p.A13= Synonymous 2/22 -
1-158548923-G-C OR10X1 c.767C>G p.T256S Missense 1/1 -
1-158548924-T-A OR10X1 c.766A>T p.T256S Missense 1/1 -
12-96076489-G-T NTN4 c.1504C>A p.H502N Missense 7/10 -
X-128692843-A-C OCRL c.587A>C p.N196T Missense 8/24 -
12-11992130-G-A ETV6 c.220G>A p.E74K Missense 3/8 -
9-134008586-C-A NUP214 c.821C>A p.A274D Missense 7/36 -
9-125315951-T-C OR1N2 c.503T>C p.L154P Missense 1/1 -
10-33543114-A-G NRP1 c.823T>C p.C275R Missense 6/17 -
9-135073581-GTC-ATG NTNG2 c.442_444delGTCinsATG p.V148M Missense 3/8 -
11-71727152-C-G NUMA1 c.1397G>C p.S466T Missense 15/27 -
12-96184038-G-A NTN4 c.50C>T p.A17V Missense 1/10 -
X-102339780-TGC-ACA NXF3 c.58_60delGCAinsTGT p.A20C Missense 2/20 -
9-125273155-T-A OR1J2 c.75T>A p.A25= Synonymous 1/1 -
9-125273155-T-C OR1J2 c.75T>C p.A25= Synonymous 1/1 -
9-125273155-T-G OR1J2 c.75T>G p.A25= Synonymous 1/1 -
1-158549310-T-C OR10X1 c.380A>G p.N127S Missense 1/1 -
9-135073870-A-G NTNG2 c.731A>G p.K244R Missense 3/8 -
8-145112981-GAC-CAT OPLAH c.1018_1020delGTCinsATG p.V340M Missense 8/28 -
X-123695616-T-C TENM1 c.2339A>G p.N780S Missense 14/32 -
6-29556431-G-T OR2H2 c.710G>T p.G237V Missense 2/2 -
12-96076597-G-T NTN4 c.1396C>A p.H466N Missense 7/10 -
8-133053841-C-T OC90 c.275G>A p.R92Q Missense 5/14 -
9-131455250-A-G SET c.482A>G p.K161R Missense 5/8 -
9-107331503-GCC-ATG OR13C8 c.55_57delGCCinsATG p.A19M Missense 1/1 -
X-123587272-T-C TENM1 c.4019A>G p.N1340S Missense 23/32 -
19-15839214-G-T OR10H2 c.361G>T p.D121Y Missense 1/1 -
11-2182136-GGC-CAT INS c.64_66delGCCinsATG p.A22M Missense 2/3 -
7-100086915-T-G NYAP1 c.1571T>G p.V524G Missense 4/7 -
2-11810251-T-A NTSR2 c.5A>T p.E2V Missense 1/4 -
1-158435763-C-A OR10K1 c.412C>A p.H138N Missense 2/2 -
4-40776861-T-C NSUN7 c.719T>C p.V240A Missense 6/12 -
X-13767625-T-G OFD1 c.908T>G p.L303R Missense 9/23 -
5-68805069-A-G OCLN c.152A>G p.E51G Missense 3/9 -
9-134004831-G-A NUP214 c.559G>A p.A187T Missense 4/36 -
X-102337217-A-G NXF3 c.856T>C p.C286R Missense 9/20 -
11-123886642-C-T OR10G4 c.361C>T p.R121C Missense 2/2 -
1-158549557-C-A OR10X1 c.133G>T p.V45L Missense 1/1 -
X-102339394-C-T NXF3 c.227G>A p.R76Q Missense 3/20 -
X-13778423-G-T OFD1 c.1844G>T p.W615L Missense 16/23 -
11-71734181-T-G NUMA1 c.221A>C p.H74P Missense 6/27 -
1-99771893-C-G PLPPR4 c.1619C>G p.T492S Missense 7/7 -
19-36430922-G-A LRFN3 c.595G>A p.A199T Missense 2/3 -
11-66626537-G-A LRFN4 c.1322G>A p.S441N Missense 1/2 -
7-133821786-A-T LRGUK c.308A>T p.D103V Missense 2/20 -
7-133868563-C-T LRGUK c.1292C>T p.A431V Missense 11/20 -
10-85997395-A-G LRIT1 c.170T>C p.I57T Missense 2/4 -
11-46920980-C-T LRP4 c.505G>A p.G169S Missense 5/38 -
1-74649317-G-A LRRIQ3 c.52C>T p.H18Y Missense 2/8 -
12-57605751-C-G LRP1 c.13300C>G p.L4434V Missense 87/89 -
12-57581169-G-A LRP1 c.6961G>A p.E2321K Missense 42/89 -
12-57559912-G-A LRP1 c.2717G>A p.R906Q Missense 17/89 -
12-57563020-C-G LRP1 c.3093C>G p.H1031Q Missense 20/89 -
14-23346174-C-T LRP10 c.1580C>T p.S527F Missense 7/7 -
14-23345001-C-T LRP10 c.844C>T p.Q282* Nonsense 5/7 -
2-141245239-G-A LRP1B c.9190C>T p.R3064* Nonsense 58/91 -
2-169995788-A-G LRP2 c.13361T>C p.L4454P Missense 74/79 -
11-68201226-G-C LRP5 c.3920G>C p.R1307P Missense 18/23 -
11-68181159-C-T LRP5 c.2506C>T p.Q836* Nonsense 12/23 -
4-3534117-G-A LRPAP1 c.23C>T p.S8L Missense 1/8 -
2-44174896-C-G LRPPRC c.1939G>C p.E647Q Missense 19/38 -
6-53769225-G-T LRRC1 c.955G>T p.A319S Missense 10/14 -
7-102574783-C-G LRRC17 c.423C>G p.I141M Missense 2/4 -
9-26995683-C-G LRRC19 c.949G>C p.E317Q Missense 5/5 -
21-45876948-C-T LRRC3 c.421C>T p.R141C Missense 2/2 -
11-76371702-C-T LRRC32 c.935G>A p.R312H Missense 3/3 -
16-67401213-A-G LRRC36 c.1048A>G p.R350G Missense 8/14 -
1-235952076-T-C LYST c.4613A>G p.H1538R Missense 13/53 -
17-44626432-A-C LRRC37A2 c.3927A>C p.K1309N Missense 9/14 -
11-76371886-G-C LRRC32 c.751C>G p.R251G Missense 3/3 -
1-54426067-A-T LRRC42 c.644A>T p.D215V Missense 5/9 -
11-40137758-C-T LRRC4C c.85G>A p.V29M Missense 7/7 -
11-56950058-C-G LRRC55 c.691C>G p.L188V Missense 1/2 -
11-552111-C-G LRRC56 c.1060C>G p.L354V Missense 12/14 -
9-131670993-C-T LRRC8A c.1550C>T p.T517I Missense 3/4 -
8-86050374-T-A LRRCC1 c.2598T>A p.D866E Missense 16/19 -
2-238667405-G-T LRRFIP1 c.1258G>T p.V420L Missense 18/24 -
1-74492567-T-C LRRIQ3 c.1805A>G p.D602G Missense 8/8 -
12-40716160-C-G LRRK2 c.5357C>G p.S1786C Missense 37/51 -
20-6022440-C-T LRRN4 c.1451G>A p.G484D Missense 5/5 -
5-138209408-A-G LRRTM2 c.842T>C p.I281T Missense 2/2 -
2-77746748-C-T LRRTM4 c.247G>A p.G83S Missense 3/4 -
9-130224635-C-T LRSAM1 c.511C>T p.H171Y Missense 9/26 -
9-130253549-A-G LRSAM1 c.1478A>G p.K493R Missense 20/26 -
3-115571362-G-A LSAMP c.617C>T p.A206V Missense 4/7 -
14-24785074-T-C LTB4R c.217T>C p.F73L Missense 2/2 -
2-33335734-C-T LTBP1 c.949C>T p.Q317* Nonsense 4/34 -
14-74971835-G-A LTBP2 c.4220C>T p.A1407V Missense 29/36 -
14-74975354-A-G LTBP2 c.3605T>C p.L1202P Missense 24/36 -
11-65319868-G-A LTBP3 c.1196C>T p.P399L Missense 7/28 -
3-46484938-G-A LTF c.1649C>T p.A550V Missense 13/17 -
17-48823271-C-A LUC7L3 c.884C>A p.S295* Nonsense 8/10 -
1-23418878-C-A LUZP1 c.1877G>T p.G626V Missense 4/5 -
1-160784239-G-A LY9 c.760G>A p.G254R Missense 4/10 -
8-56866442-A-G LYN c.689A>G p.K230R Missense 8/13 -
1-219384958-C-T LYPLAL1 c.602C>T p.T201M Missense 5/5 -
12-69743921-A-T LYZ c.170A>T p.N57I Missense 2/4 -
12-69743957-G-C LYZ c.206G>C p.S69T Missense 2/4 -
22-21340177-C-G LZTR1 c.311C>G p.S104C Missense 3/21 -
13-36050055-A-T MAB21L1 c.221T>A p.F74Y Missense 1/1 -
11-68181235-C-T LRP5 c.2582C>T p.T861I Missense 12/23 -
X-152482113-C-T MAGEA1 c.898G>A p.A300T Missense 3/3 -
X-148798323-G-A MAGEA11 c.1177G>A p.E393K Missense 5/5 -
X-27839566-A-G MAGEB10 c.143A>G p.D48G Missense 3/3 -
X-26157885-C-A MAGEB18 c.783C>A p.N261K Missense 2/3 -
X-30254993-G-A MAGEB3 c.952G>A p.V318I Missense 5/5 -
X-30261042-G-A MAGEB4 c.790G>A p.D264N Missense 1/1 -
X-140969464-T-A MAGEC3 c.791T>A p.L264Q Missense 4/8 -
X-54841696-C-T MAGED2 c.1402C>T p.P468S Missense 12/13 -
X-75004811-T-C MAGEE2 c.76A>G p.I26V Missense 1/1 -
7-77973161-C-T MAGI2 c.1342G>A p.E448K Missense 9/22 -
1-114137161-C-A MAGI3 c.997C>A p.P333T Missense 6/21 -
X-75004149-G-A MAGEE2 c.738C>T p.P246= Synonymous 1/1 -
X-75003732-T-C MAGEE2 c.1155A>G p.E385= Synonymous 1/1 -
9-139751442-G-A MAMDC4 c.1921G>A p.A641T Missense 16/27 -
X-149631107-C-T MAMLD1 c.166C>T p.H56Y Missense 2/7 -
15-75660529-C-T MAN2C1 c.112G>A p.A38T Missense 2/26 -
15-43816894-G-A MAP1A c.3223G>A p.A1075T Missense 4/6 -
15-43816306-C-A MAP1A c.2635C>A p.R879S Missense 4/6 -
15-43815344-C-G MAP1A c.1673C>G p.P558R Missense 4/6 -
5-71490028-G-C MAP1B c.846G>C p.M282I Missense 5/7 -
5-71490881-G-A MAP1B c.1699G>A p.E567K Missense 5/7 -
5-71495163-C-T MAP1B c.5981C>T p.S1994F Missense 5/7 -
2-33488423-AG-CT LTBP1 c.2581_2582delAGinsCT p.S861L Missense 15/34 -
2-44176775-A-C LRPPRC c.1701T>G p.D567E Missense 16/38 -
2-44176775-A-T LRPPRC c.1701T>A p.D567E Missense 16/38 -
11-46905496-A-C LRP4 c.2538T>G p.D846E Missense 19/38 -
11-46905496-A-T LRP4 c.2538T>A p.D846E Missense 19/38 -
14-23346465-C-G LRP10 c.1871C>G p.S624C Missense 7/7 -
12-40716160-C-T LRRK2 c.5357C>T p.S1786F Missense 37/51 -
8-86025230-T-C LRRCC1 c.440T>C p.I147T Missense 4/19 -
X-26157570-G-C MAGEB18 c.468G>C p.M156I Missense 2/3 -
X-26157570-G-A MAGEB18 c.468G>A p.M156I Missense 2/3 -
X-26157570-G-T MAGEB18 c.468G>T p.M156I Missense 2/3 -
19-36430577-G-A LRFN3 c.250G>A p.G84S Missense 2/3 -
5-71490932-G-A MAP1B c.1750G>A p.E584K Missense 5/7 -
3-46497335-TG-CA LTF c.449_450delCAinsTG p.T150M Missense 4/17 -
2-77746748-C-A LRRTM4 c.247G>T p.G83C Missense 3/4 -
2-77746750-G-A LRRTM4 c.245C>T p.A82V Missense 3/4 -
3-46497865-GG-CA LTF c.230_231delCCinsTG p.T77M Missense 3/17 -
2-77746749-G-T LRRTM4 c.246C>A p.A82= Synonymous 3/4 -
2-77746749-G-C LRRTM4 c.246C>G p.A82= Synonymous 3/4 -
2-77746749-G-A LRRTM4 c.246C>T p.A82= Synonymous 3/4 -
2-150071154-CA-TG LYPD6B c.554_555delCAinsTG p.T185M Missense 7/7 -
9-130219638-A-G LRSAM1 c.218A>G p.K73R Missense 6/26 -
3-115571364-C-A LSAMP c.615G>T p.S205= Synonymous 4/7 -
3-115571364-C-G LSAMP c.615G>C p.S205= Synonymous 4/7 -
X-75004848-TGC-CCA MAGEE2 c.37_39delGCAinsTGG p.A13W Missense 1/1 -
8-56864663-A-G LYN c.626A>G p.K209R Missense 7/13 -
13-36050201-A-T MAB21L1 c.75T>A p.A25= Synonymous 1/1 -
13-36050201-A-G MAB21L1 c.75T>C p.A25= Synonymous 1/1 -
13-36050201-A-C MAB21L1 c.75T>G p.A25= Synonymous 1/1 -
5-137801583-GC-AT EGR1 c.133_134delGCinsAT p.A45I Missense 1/2 -
11-66625266-C-T LRFN4 c.51C>T p.C17= Synonymous 1/2 -
2-33246255-C-T LTBP1 c.845C>T p.P282L Missense 3/34 -
12-57522805-GC-TG LRP1 c.58_59delGCinsTG p.A20C Missense 1/89 -
2-33172690-C-T LTBP1 c.299C>T p.P100L Missense 1/34 -
11-65325368-C-T LTBP3 c.63G>A p.A21= Synonymous 1/28 -
11-65325368-C-G LTBP3 c.63G>C p.A21= Synonymous 1/28 -
11-65325368-C-A LTBP3 c.63G>T p.A21= Synonymous 1/28 -
1-235972673-G-C LYST c.1445C>G p.T482S Missense 5/53 -
1-235972674-T-A LYST c.1444A>T p.T482S Missense 5/53 -
17-44591595-C-T LRRC37A2 c.1517C>T p.A506V Missense 1/14 -
7-78131006-C-T MAGI2 c.853G>A p.E285K Missense 5/22 -
17-48818467-G-C LUC7L3 c.211G>C p.E71Q Missense 4/10 -
12-40657690-C-T LRRK2 c.1643C>T p.A548V Missense 14/51 -
5-71403410-GC-TT MAP1B c.52_53delGCinsTT p.A18F Missense 1/7 -
1-235972508-G-A LYST c.1610C>T p.A537V Missense 5/53 -
14-75078561-GAA-CTC LTBP2 c.85_87delTTCinsGAG p.F29E Missense 1/36 -
2-170177345-TGC-AAA LRP2 c.127_129delGCAinsTTT p.A43F Missense 2/79 -
4-3519855-GCT-TCA LRPAP1 c.655_657delAGCinsTGA p.S219* Nonsense 5/8 -
17-18160239-G-T FLII c.158C>A p.A53D Missense 2/30 -
10-85997355-GG-CT LRIT1 c.209_210delCCinsAG p.A70E Missense 2/4 -
1-23418882-C-G LUZP1 c.1873G>C p.E625Q Missense 4/5 -
5-138210193-TGC-CAT LRRTM2 c.55_57delGCAinsATG p.A19M Missense 2/2 -
3-46487964-G-A LTF c.1324C>T p.P442S Missense 11/17 -
1-219347296-GC-AT LYPLAL1 c.64_65delGCinsAT p.A22I Missense 1/5 -
11-65320370-G-A LTBP3 c.1147C>T p.P383S Missense 6/28 -
1-99771481-AG-TT PLPPR4 c.1207_1208delAGinsTT p.S355F Missense 7/7 -
14-23346171-G-A LRP10 c.1577G>A p.R526H Missense 7/7 -
11-56949597-CC-AG LRRC55 c.230_231delCCinsAG p.A34E Missense 1/2 -
9-130216846-GCT-TGG LRSAM1 c.40_42delGCTinsTGG p.A14W Missense 3/26 -
1-160783443-C-T LY9 c.472C>T p.Q158* Nonsense 3/10 -
5-138210203-G-T LRRTM2 c.47C>A p.A16E Missense 2/2 -
3-46479467-C-T LTF c.2062G>A p.A688T Missense 16/17 -
X-30254123-G-T MAGEB3 c.82G>T p.A28S Missense 5/5 -
11-46921486-C-T LRP4 c.358G>A p.G120S Missense 4/38 -
X-75004644-CGC-ACA MAGEE2 c.241_243delGCGinsTGT p.A81C Missense 1/1 -
13-36050201-AGC-CTT MAB21L1 c.73_75delGCTinsAAG p.A25K Missense 1/1 -
22-21350331-AG-CC LZTR1 c.2149_2150delAGinsCC p.R717P Missense 18/21 -
13-36050198-G-T MAB21L1 c.78C>A p.A26= Synonymous 1/1 -
13-36050198-G-C MAB21L1 c.78C>G p.A26= Synonymous 1/1 -
13-36050198-G-A MAB21L1 c.78C>T p.A26= Synonymous 1/1 -
14-74969558-ACTC-A LTBP2 c.4966_4968delGAG p.E1656del InFrameDeletion 34/36 -
X-30261041-T-G MAGEB4 c.789T>G p.S263R Missense 1/1 -
X-30261041-T-A MAGEB4 c.789T>A p.S263R Missense 1/1 -
X-30261039-A-C MAGEB4 c.787A>C p.S263R Missense 1/1 -
17-48818467-TGAG-T LUC7L3 c.211_213delGAG p.E71del InFrameDeletion 4/10 -
3-46501249-GCCT-G LTF c.101_103delAGG p.E34del InFrameDeletion 2/17 -
2-141806705-C-G LRP1B c.1639G>C p.E547Q Missense 11/91 -
X-30254995-C-A MAGEB3 c.954C>A p.V318= Synonymous 5/5 -
X-30254995-C-G MAGEB3 c.954C>G p.V318= Synonymous 5/5 -
X-30254995-C-T MAGEB3 c.954C>T p.V318= Synonymous 5/5 -
7-102575045-A-G LRRC17 c.685A>G p.R229G Missense 2/4 -
11-68131338-G-C LRP5 c.810G>C p.K270N Missense 4/23 -
11-68131338-G-T LRP5 c.810G>T p.K270N Missense 4/23 -
22-21344740-G-C LZTR1 c.717G>C p.K239N Missense 8/21 -
22-21344740-G-T LZTR1 c.717G>T p.K239N Missense 8/21 -
2-238664789-G-A LRRFIP1 c.1090G>A p.E364K Missense 16/24 -
9-131670791-G-A LRRC8A c.1348G>A p.V450I Missense 3/4 -
11-46916838-CAC-GAT LRP4 c.1186_1188delGTGinsATC p.V396I Missense 11/38 -
6-53660127-GTC-ATG LRRC1 c.73_75delGTCinsATG p.V25M Missense 1/14 -
12-40697892-TC-CT LRRK2 c.3733_3734delTCinsCT p.S1245L Missense 27/51 -
1-99771731-C-T PLPPR4 c.1457C>T p.S438L Missense 7/7 -
22-21350995-G-A LZTR1 c.2230G>A p.A744T Missense 19/21 -
X-30261042-G-C MAGEB4 c.790G>C p.D264H Missense 1/1 -
11-72537766-A-G ATG16L2 c.1264A>G p.K422E Missense 13/18 -
3-142297531-G-C ATR c.16C>G p.L6V Missense 1/47 -
11-64679415-G-A ATG2A c.1127C>T p.A376V Missense 9/41 -
11-64677164-G-A ATG2A c.2096C>T p.S699F Missense 14/41 -
14-96794755-G-A ATG2B c.2092C>T p.P698S Missense 14/42 -
2-220089873-G-A ATG9A c.436C>T p.R146W Missense 7/16 -
8-133899680-C-T TG c.2063C>T p.T688I Missense 9/48 -
14-51054695-G-A ATL1 c.181G>A p.A61T Missense 2/14 -
11-108200988-T-C ATM c.7355T>C p.L2452P Missense 50/63 -
1-160094203-T-A ATP1A2 c.613T>A p.S205T Missense 6/23 -
1-160105770-T-C ATP1A2 c.2426T>C p.L809P Missense 17/23 -
11-108196147-C-T ATM c.6683C>T p.T2228I Missense 46/63 -
11-108216586-G-T ATM c.8535G>T p.W2845C Missense 58/63 -
11-108190727-C-G ATM c.6394C>G p.L2132V Missense 44/63 -
5-160047602-T-C ATP10B c.2168A>G p.D723G Missense 15/26 -
13-25262595-G-A ATP12A c.367G>A p.A123T Missense 4/23 -
3-193120598-T-C ATP13A4 c.3434A>G p.Y1145C Missense 30/30 -
1-160106465-G-A ATP1A2 c.2669G>A p.R890Q Missense 19/23 -
1-160109744-C-T ATP1A2 c.3004C>T p.R1002* Nonsense 22/23 -
5-160033843-G-T ATP10B c.3089C>A p.S1030Y Missense 19/26 -
1-160124992-C-T ATP1A4 c.365C>T p.A122V Missense 3/22 -
X-119500552-G-A ATP1B4 c.236G>A p.G79D Missense 2/8 -
12-110771021-A-G ATP2A2 c.1220A>G p.Y407C Missense 10/20 -
1-203680123-A-G ATP2B4 c.1918A>G p.I640V Missense 12/21 -
16-84456271-G-A ATP2C2 c.811G>A p.G271R Missense 9/27 -
1-160091033-C-T ATP1A2 c.169C>T p.L57= Synonymous 3/23 -
12-110760866-C-T ATP2A2 c.533C>T p.S178L Missense 6/20 -
3-113505224-T-C ATP6V1A c.710T>C p.L237P Missense 6/15 -
8-104066176-G-A ATP6V1C1 c.538G>A p.E180K Missense 7/13 -
2-10917833-T-A ATP6V1C2 c.948T>A p.S316R Missense 11/14 -
3-142266707-G-A ATR c.3217C>T p.Q1073* Nonsense 16/47 -
3-142268455-G-C ATR c.3037C>G p.L1013V Missense 15/47 -
3-142281349-T-C ATR c.895A>G p.I299V Missense 4/47 -
12-110778503-C-G ATP2A2 c.1801C>G p.P601A Missense 14/20 -
20-3065238-C-T AVP c.83G>A p.G28D Missense 1/3 -
6-57037528-C-G BAG2 c.33C>G p.N11K Missense 1/3 -
16-364573-G-A AXIN1 c.989C>T p.A330V Missense 3/11 -
17-63554510-G-A AXIN2 c.229C>T p.R77W Missense 2/11 -
7-99569418-G-C AZGP1 c.288C>G p.I96M Missense 2/4 -
13-31848757-C-A B3GLCT c.772C>A p.P258T Missense 9/15 -
11-134252695-C-T B3GAT1 c.827G>A p.R276Q Missense 4/6 -
19-17922809-G-T B3GNT3 c.997G>T p.D333Y Missense 3/3 -
3-182988119-G-A B3GNT5 c.533G>A p.W178* Nonsense 2/2 -
17-80923589-G-C B3GNTL1 c.538C>G p.P180A Missense 7/13 -
12-667249-G-A B4GALNT3 c.2602G>A p.V868M Missense 17/20 -
6-70034893-C-T ADGRB3 c.2944C>T p.R982C Missense 21/32 -
6-69758224-A-T ADGRB3 c.2255A>T p.K752I Missense 14/32 -
10-28970195-C-T BAMBI c.85C>T p.R29* Nonsense 2/3 -
1-91182584-T-C BARHL2 c.169A>G p.T57A Missense 1/3 -
4-123664933-C-G BBS12 c.1886C>G p.S629C Missense 2/2 -
16-56539933-T-C BBS2 c.733A>G p.M245V Missense 7/17 -
5-137803583-A-G EGR1 c.1445A>G p.Y482C Missense 2/2 -
3-107429455-G-A BBX c.148G>A p.E50K Missense 4/18 -
1-91182670-A-G BARHL2 c.83T>C p.M28T Missense 1/3 -
3-107451845-G-A BBX c.644G>A p.G215E Missense 7/18 -
3-48900082-G-A SLC25A20 c.428C>T p.S143F Missense 5/9 -
1-94054850-C-T BCAR3 c.613G>A p.V205I Missense 5/12 -
17-59024649-G-C BCAS3 c.1157G>C p.W386S Missense 14/24 -
2-60688216-C-T BCL11A c.1831G>A p.E611K Missense 4/4 -
19-50170383-C-G BCL2L12 c.467C>G p.S72C Missense 3/7 -
12-12240312-C-G BCL2L14 c.599C>G p.S200C Missense 3/6 -
3-187443336-G-C BCL6 c.1790C>G p.S597C Missense 8/10 -
1-147091712-G-T BCL9 c.1751G>T p.R584I Missense 8/10 -
11-72525605-GC-AT ATG16L2 c.115_116delGCinsAT p.A39I Missense 1/18 -
1-147084886-G-T BCL9 c.258G>T p.K86N Missense 5/10 -
6-136599357-T-A BCLAF1 c.662A>T p.N221I Missense 4/13 -
X-39922927-T-C BCOR c.3781A>G p.R1261G Missense 8/15 -
3-197239158-C-A BDH1 c.640G>T p.G214W Missense 8/8 -
17-81009662-GCTC-G B3GNTL1 c.8_10delGAG p.G3del InFrameDeletion 1/13 -
X-77244899-A-G ATP7A c.781A>G p.K261E Missense 4/23 -
3-197239161-A-G BDH1 c.637T>C p.F213L Missense 8/8 -
3-197239159-G-T BDH1 c.639C>A p.F213L Missense 8/8 -
3-197239159-G-C BDH1 c.639C>G p.F213L Missense 8/8 -
13-52549106-T-C ATP7B c.250A>G p.K84E Missense 2/21 -
2-220092708-GGC-CCA ATG9A c.37_39delGCCinsTGG p.A13W Missense 3/16 -
17-41246770-T-C BRCA1 c.778A>G p.K260E Missense 10/23 -
1-203652378-C-A ATP2B4 c.45C>A p.A15= Synonymous 2/21 -
1-203652378-C-G ATP2B4 c.45C>G p.A15= Synonymous 2/21 -
1-203652378-C-T ATP2B4 c.45C>T p.A15= Synonymous 2/21 -
1-160099104-G-A ATP1A2 c.1375G>A p.E459K Missense 11/23 -
8-133879300-GCC-ATG TG c.55_57delGCCinsATG p.A19M Missense 1/48 -
3-193151655-T-A ATP13A4 c.2821A>T p.T941S Missense 25/30 -
6-57037560-C-A BAG2 c.65C>A p.A22D Missense 1/3 -
2-60688318-C-T BCL11A c.1729G>A p.E577K Missense 4/4 -
X-76938053-T-A ATRX c.2695A>T p.T899S Missense 9/35 -
16-84449193-C-G ATP2C2 c.620C>G p.T207S Missense 7/27 -
16-84449192-A-T ATP2C2 c.619A>T p.T207S Missense 7/27 -
7-99573591-GC-AA AZGP1 c.52_53delGCinsTT p.A18F Missense 1/4 -
2-60689209-C-T BCL11A c.838G>A p.E280K Missense 4/4 -
2-220092709-GC-CG ATG9A c.37_38delGCinsCG p.A13R Missense 3/16 -
6-37138379-G-T PIM1 c.28G>T p.A10S Missense 1/6 -
5-137803129-A-C EGR1 c.991A>C p.T331P Missense 2/2 -
16-31121791-A-C BCKDK c.613A>C p.T205P Missense 7/12 -
18-76829477-GC-AT ATP9B c.67_68delGCinsAT p.A23M Missense 1/30 -
18-76829477-GC-AA ATP9B c.67_68delGCinsAA p.A23K Missense 1/30 -
18-76829460-C-T ATP9B c.50C>T p.A17V Missense 1/30 -
19-42486107-C-G ATP1A3 c.1145G>C p.W382S Missense 9/23 -
3-107435502-G-A BBX c.211G>A p.E71K Missense 5/18 -
8-133880374-GC-CG TG c.82_83delGCinsCG p.A28R Missense 2/48 -
17-38487545-C-A RARA c.75C>A p.A25= Synonymous 2/9 -
17-38487545-C-G RARA c.75C>G p.A25= Synonymous 2/9 -
17-38487545-C-T RARA c.75C>T p.A25= Synonymous 2/9 -
3-193272560-GC-CA ATP13A4 c.28_29delGCinsTG p.A10C Missense 1/30 -
3-142286993-G-T ATR c.63C>A p.A21= Synonymous 2/47 -
3-142286993-G-C ATR c.63C>G p.A21= Synonymous 2/47 -
3-142286993-G-A ATR c.63C>T p.A21= Synonymous 2/47 -
1-91182694-GC-CA BARHL2 c.58_59delGCinsTG p.A20C Missense 1/3 -
17-38504651-TG-GC RARA c.262_263delTGinsGC p.C88A Missense 3/9 -
6-44217527-G-C HSP90AB1 c.470G>C p.W157S Missense 4/12 -
16-81077857-C-T ATMIN c.1754C>T p.T585I Missense 4/4 -
11-64673274-A-G ATG2A c.3311T>C p.L1104P Missense 23/41 -
8-133880374-G-T TG c.82G>T p.A28S Missense 2/48 -
11-134251891-T-C B3GAT1 c.946A>G p.K316E Missense 5/6 -
12-662573-C-G B4GALNT3 c.1484C>G p.S495C Missense 14/20 -
19-17918760-C-A B3GNT3 c.144C>A p.A48= Synonymous 2/3 -
19-17918760-C-G B3GNT3 c.144C>G p.A48= Synonymous 2/3 -
19-17918760-C-T B3GNT3 c.144C>T p.A48= Synonymous 2/3 -
2-60688517-CC-GA BCL11A c.1529_1530delGGinsTC p.R510I Missense 4/4 -
17-7579571-GC-AG TP53 c.115_116delGCinsCT p.A39L Missense 4/11 -
14-51054555-T-G ATL1 c.41T>G p.F14C Missense 2/14 -
10-28970273-C-T BAMBI c.163C>T p.L55F Missense 2/3 -
X-77298894-C-T ATP7A c.4085C>T p.A1362V Missense 21/23 -
10-28970225-GCC-ATG BAMBI c.115_117delGCCinsATG p.A39M Missense 2/3 -
11-111228286-C-T POU2AF1 c.340G>A p.V114I Missense 4/5 -
17-7579501-T-G TP53 c.186A>C p.E62D Missense 4/11 -
17-7579501-T-A TP53 c.186A>T p.E62D Missense 4/11 -
1-59248706-C-T JUN c.37G>A p.A13T Missense 1/1 -
13-31903744-C-T B3GLCT c.1436C>T p.A479V Missense 15/15 -
8-133880375-C-T TG c.83C>T p.A28V Missense 2/48 -
X-39923083-G-C BCOR c.3625C>G p.R1209G Missense 8/15 -
3-193120601-C-T ATP13A4 c.3431G>A p.G1144D Missense 30/30 -
1-160090983-A-G ATP1A2 c.119A>G p.D40G Missense 3/23 -
16-81077005-T-G ATMIN c.902T>G p.V301G Missense 4/4 -
12-665813-CGC-TGA B4GALNT3 c.2161_2163delCGCinsTGA p.R721* Nonsense 15/20 -
X-76944341-TCT-ACA ATRX c.562_564delAGAinsTGT p.R188C Missense 7/35 -
1-160109744-C-A ATP1A2 c.3004C>A p.R1002= Synonymous 22/23 -
1-160109746-A-C ATP1A2 c.3006A>C p.R1002= Synonymous 22/23 -
1-160109746-A-G ATP1A2 c.3006A>G p.R1002= Synonymous 22/23 -
1-160109746-A-T ATP1A2 c.3006A>T p.R1002= Synonymous 22/23 -
5-160033842-GG-TT ATP10B c.3089_3090delCCinsAA p.S1030* Nonsense 19/26 -
5-137802902-A-G EGR1 c.764A>G p.Y255C Missense 2/2 -
11-64681845-C-T ATG2A c.299G>A p.G100D Missense 2/41 -
1-203670012-G-A ATP2B4 c.862G>A p.G288R Missense 6/21 -
1-203670012-G-C ATP2B4 c.862G>C p.G288R Missense 6/21 -
16-84442041-G-C ATP2C2 c.358G>C p.G120R Missense 4/27 -
X-119496045-A-T ATP1B4 c.22A>T p.R8* Nonsense 1/8 -
8-104068134-T-C ATP6V1C1 c.611T>C p.L204P Missense 8/13 -
8-133898866-G-A TG c.1249G>A p.V417M Missense 9/48 -
3-48921443-C-T SLC25A20 c.313G>A p.E105K Missense 3/9 -
16-347992-G-A AXIN1 c.1514C>T p.A505V Missense 6/11 -
X-77243954-GTG-TTT ATP7A c.337_339delGTGinsTTT p.V113F Missense 3/23 -
X-76939853-T-C ATRX c.895A>G p.K299E Missense 9/35 -
16-28846948-A-C ATXN2L c.2764A>C p.T922P Missense 21/22 -
3-195782049-G-C TFRC c.1801C>G p.L601V Missense 17/19 -
6-57037500-C-T BAG2 c.5C>T p.A2V Missense 1/3 -
11-108114716-C-T ATM c.533C>T p.P178L Missense 6/63 -
5-172410879-C-G ATP6V0E1 c.16C>G p.L6V Missense 1/4 -
3-107492013-A-G BBX c.1445A>G p.D482G Missense 11/18 -
3-113499914-A-T ATP6V1A c.100A>T p.M34L Missense 3/15 -
14-96797749-G-A ATG2B c.1694C>T p.A565V Missense 11/42 -
1-203669357-A-G ATP2B4 c.673A>G p.I225V Missense 5/21 -
15-64966384-C-A ZNF609 c.1331C>A p.P444H Missense 5/10 -
10-48371510-C-G ZNF488 c.978C>G p.F326L Missense 2/2 -
19-11917928-A-G ZNF491 c.1160A>G p.H387R Missense 3/3 -
19-58868467-G-C ZNF497 c.535C>G p.H179D Missense 3/3 -
16-4810510-G-A ZNF500 c.743C>T p.A248V Missense 5/6 -
3-44763193-A-G ZNF502 c.884A>G p.Y295C Missense 3/3 -
19-32844893-G-A ZNF507 c.1157G>A p.S386N Missense 3/7 -
9-99537117-G-A ZNF510 c.82C>T p.R28W Missense 3/6 -
18-22805082-C-T ZNF521 c.2800G>A p.V934M Missense 4/8 -
19-52919958-C-G ZNF528 c.1853C>G p.S618C Missense 7/7 -
19-52909178-G-T ZNF528 c.34G>T p.D12Y Missense 5/7 -
19-57835056-G-T ZNF543 c.25G>T p.V9L Missense 2/4 -
19-9578758-C-G ZNF560 c.865G>C p.D289H Missense 10/10 -
19-12430333-T-C ZNF563 c.506A>G p.Y169C Missense 4/4 -
19-36674128-C-G ZNF565 c.740G>C p.G247A Missense 5/5 -
19-38230588-T-A ZNF573 c.803A>T p.H268L Missense 5/5 -
19-53014631-C-G ZNF578 c.997C>G p.H333D Missense 6/6 -
19-37676134-C-G ZNF585B c.2305G>C p.A769P Missense 5/5 -
19-38190685-C-A ZNF607 c.347G>T p.C116F Missense 5/5 -
5-123980144-T-C ZNF608 c.3916A>G p.M1306V Missense 6/10 -
19-53208567-G-C ZNF611 c.1741C>G p.L581V Missense 6/6 -
19-52443516-C-T ZNF613 c.70C>T p.L24F Missense 4/6 -
19-52618688-A-G ZNF616 c.1729T>C p.Y577H Missense 4/4 -
3-40573621-C-G ZNF621 c.360C>G p.N120K Missense 5/5 -
17-16525630-A-T ZNF624 c.2570T>A p.I857K Missense 6/6 -
1-91404819-T-C ZNF644 c.2092A>G p.M698V Missense 3/6 -
16-31089468-A-C ZNF646 c.1823A>C p.E608A Missense 2/3 -
19-53668940-C-T ZNF665 c.803G>A p.G268D Missense 4/4 -
5-123984617-G-A ZNF608 c.1460C>T p.A487V Missense 5/10 -
X-57936620-G-C ZXDA c.235C>G p.H79D Missense 1/1 -
19-53740670-C-T ZNF677 c.1310G>A p.G437D Missense 5/5 -
19-12061021-G-A ZNF700 c.2182G>A p.G728R Missense 4/4 -
1-249144944-G-T ZNF692 c.1190C>A p.S397Y Missense 11/12 -
1-91405093-C-T ZNF644 c.1818G>A p.E606= Synonymous 3/6 -
19-12577553-T-C ZNF709 c.115A>G p.N39D Missense 2/4 -
19-12575504-T-A ZNF709 c.1232A>T p.E411V Missense 4/4 -
X-134421632-G-A ZNF75D c.970C>T p.H324Y Missense 7/7 -
15-35274879-G-A ZNF770 c.757C>T p.R253C Missense 3/3 -
7-149129526-G-A ZNF777 c.1837C>T p.P613S Missense 6/6 -
7-149152881-C-A ZNF777 c.233G>T p.G78V Missense 2/6 -
7-149129472-C-G ZNF777 c.1891G>C p.G631R Missense 6/6 -
19-37309574-C-T ZNF790 c.1672G>A p.D558N Missense 5/5 -
19-12739914-A-G ZNF791 c.1571A>G p.Y524C Missense 4/4 -
3-113955140-G-T ZNF80 c.782C>A p.A261D Missense 1/1 -
2-185801992-G-C ZNF804A c.1869G>C p.E623D Missense 4/4 -
2-185802431-C-T ZNF804A c.2308C>T p.R770* Nonsense 4/4 -
19-53116715-G-A ZNF83 c.1103C>T p.A368V Missense 5/5 -
19-53116314-G-A ZNF83 c.1504C>T p.R502C Missense 5/5 -
2-185800809-C-T ZNF804A c.686C>T p.S229L Missense 4/4 -
19-23544777-G-A ZNF91 c.1004C>T p.S335L Missense 4/4 -
20-47865945-C-G ZNFX1 c.3616G>C p.G1206R Missense 14/14 -
7-100865924-G-A ZNHIT1 c.62G>A p.R21Q Missense 2/5 -
22-29446145-C-G ZNRF3 c.1976C>G p.S659C Missense 8/9 -
22-29445437-A-G ZNRF3 c.1268A>G p.H423R Missense 8/9 -
7-50129291-G-A ZPBP c.142C>T p.R48* Nonsense 2/8 -
2-136026599-A-G ZRANB3 c.1319T>C p.V440A Missense 11/21 -
19-56701879-C-T ZSCAN5B c.805G>A p.D269N Missense 5/5 -
11-113644351-C-T ZW10 c.38G>A p.G13E Missense 1/16 -
11-113631247-C-A ZW10 c.408G>T p.Q136H Missense 4/16 -
X-57936633-G-C ZXDA c.222C>G p.F74L Missense 1/1 -
3-126189759-G-A ZXDC c.1249C>T p.P417S Missense 4/10 -
17-3937546-G-A ZZEF1 c.6347C>T p.P2116L Missense 40/55 -
17-3984759-G-A ZZEF1 c.2740C>T p.L914F Missense 18/55 -
17-4020293-G-C ZZEF1 c.667C>G p.L223V Missense 3/55 -
1-78097775-T-A ZZZ3 c.1265A>T p.N422I Missense 5/15 -
10-77158995-CGGCCGTTAGCGA-C ZNF503 c.1441_1452del12 p.S481_A484del InFrameDeletion 2/2 -
19-52443528-G-T ZNF613 c.82G>T p.A28S Missense 4/6 -
19-36673612-T-C ZNF565 c.1256A>G p.Y419C Missense 5/5 -
17-16527181-G-A ZNF624 c.1019C>T p.A340V Missense 6/6 -
19-32844028-GC-TT ZNF507 c.292_293delGCinsTT p.A98F Missense 3/7 -
19-23543589-A-T ZNF91 c.2192T>A p.I731K Missense 4/4 -
19-12739849-G-T ZNF791 c.1506G>T p.G502= Synonymous 4/4 -
19-12739849-G-A ZNF791 c.1506G>A p.G502= Synonymous 4/4 -
19-12739849-G-C ZNF791 c.1506G>C p.G502= Synonymous 4/4 -
7-50121449-ACA-CTC ZPBP c.253_255delTGTinsGAG p.C85E Missense 3/8 -
19-52627276-GGC-CCA ZNF616 c.37_39delGCCinsTGG p.A13W Missense 3/4 -
2-135982060-G-A ZRANB3 c.2186C>T p.P729L Missense 15/21 -
19-9578758-C-A ZNF560 c.865G>T p.D289Y Missense 10/10 -
19-32844533-A-T ZNF507 c.797A>T p.H266L Missense 3/7 -
19-37697977-C-T ZNF585B c.37G>A p.A13T Missense 2/5 -
19-12433472-AGC-CAT ZNF563 c.55_57delGCTinsATG p.A19M Missense 2/4 -
16-31089036-C-T ZNF646 c.1391C>T p.P464L Missense 2/3 -
22-29446063-G-C ZNRF3 c.1894G>C p.E632Q Missense 8/9 -
16-30795738-AGC-CAT ZNF629 c.64_66delGCTinsATG p.A22M Missense 2/3 -
19-52447391-T-G ZNF613 c.255T>G p.N85K Missense 6/6 -
19-52447391-T-A ZNF613 c.255T>A p.N85K Missense 6/6 -
5-124080568-C-G ZNF608 c.115G>C p.A39P Missense 2/10 -
16-31088900-C-T ZNF646 c.1255C>T p.H419Y Missense 2/3 -
19-12577640-C-A ZNF709 c.28G>T p.A10S Missense 2/4 -
5-124080568-C-T ZNF608 c.115G>A p.A39T Missense 2/10 -
19-52620036-A-C ZNF616 c.381T>G p.S127R Missense 4/4 -
19-52620036-A-T ZNF616 c.381T>A p.S127R Missense 4/4 -
19-52620038-T-G ZNF616 c.379A>C p.S127R Missense 4/4 -
15-35275007-T-A ZNF770 c.629A>T p.H210L Missense 3/3 -
8-37553579-GC-TA ZNF703 c.82_83delGCinsTA p.A28* Nonsense 1/2 -
8-37553612-GCG-ATC ZNF703 c.115_117delGCGinsATC p.A39I Missense 1/2 -
19-12060967-G-A ZNF700 c.2128G>A p.G710R Missense 4/4 -
19-12060967-G-C ZNF700 c.2128G>C p.G710R Missense 4/4 -
19-53747124-GGC-CCA ZNF677 c.40_42delGCCinsTGG p.A14W Missense 4/5 -
19-36674326-T-A ZNF565 c.542A>T p.H181L Missense 5/5 -
7-50129290-C-A ZPBP c.143G>T p.R48L Missense 2/8 -
8-37553612-GC-AG ZNF703 c.115_116delGCinsAG p.A39R Missense 1/2 -
19-12059975-C-A ZNF700 c.1136C>A p.T379K Missense 4/4 -
19-53740691-G-A ZNF677 c.1289C>T p.P430L Missense 5/5 -
19-52627276-GGC-TTA ZNF616 c.37_39delGCCinsTAA p.A13* Nonsense 3/4 -
19-9585971-T-C ZNF560 c.19A>G p.N7D Missense 3/10 -
9-99538289-T-G ZNF510 c.63A>C p.A21= Synonymous 2/6 -
9-99538289-T-C ZNF510 c.63A>G p.A21= Synonymous 2/6 -
9-99538289-T-A ZNF510 c.63A>T p.A21= Synonymous 2/6 -
5-124080682-T-C ZNF608 c.1A>G p.M1? Missense 2/10 -
19-52627276-GGC-CAT ZNF616 c.37_39delGCCinsATG p.A13M Missense 3/4 -
19-57176223-C-A ZNF835 c.344G>T p.C115F Missense 2/2 -
7-149153040-G-C ZNF777 c.74C>G p.A25G Missense 2/6 -
22-29279940-G-C ZNRF3 c.186G>C p.E62D Missense 1/9 -
22-29279940-G-T ZNRF3 c.186G>T p.E62D Missense 1/9 -
19-12638365-C-T ZNF564 c.557G>A p.R186K Missense 4/4 -
20-47887297-G-A ZNFX1 c.1052C>T p.P351L Missense 3/14 -
10-77159903-C-G ZNF503 c.545G>C p.G182A Missense 2/2 -
19-23544104-TG-AC ZNF91 c.1676_1677delCAinsGT p.S559C Missense 4/4 -
19-52618971-AGCT-A ZNF616 c.1443_1445delAGC p.A482del InFrameDeletion 4/4 -
15-64966587-C-G ZNF609 c.1534C>G p.L512V Missense 5/10 -
17-3984756-AAAG-A ZZEF1 c.2740_2742delCTT p.L915del InFrameDeletion 18/55 -
X-134421635-T-C ZNF75D c.967A>G p.T323A Missense 7/7 -
19-12734575-C-A ZNF791 c.65C>A p.A22D Missense 2/4 -
3-126180974-G-C ZXDC c.1531C>G p.L511V Missense 6/10 -
19-58868883-G-A ZNF497 c.119C>T p.A40V Missense 3/3 -
17-3992071-GAC-CAT ZZEF1 c.2140_2142delGTCinsATG p.V714M Missense 13/55 -
7-149129475-C-A ZNF777 c.1888G>T p.G630C Missense 6/6 -
7-149153039-A-T ZNF777 c.75T>A p.A25= Synonymous 2/6 -
7-149153039-A-G ZNF777 c.75T>C p.A25= Synonymous 2/6 -
7-149153039-A-C ZNF777 c.75T>G p.A25= Synonymous 2/6 -
9-99521958-G-C ZNF510 c.1154C>G p.S385C Missense 6/6 -
16-31089120-A-G ZNF646 c.1475A>G p.Y492C Missense 2/3 -
15-35275583-GC-AA ZNF770 c.52_53delGCinsTT p.A18F Missense 3/3 -
19-37253268-A-T ZNF850 c.78T>A p.A26= Synonymous 3/5 -
19-37253268-A-G ZNF850 c.78T>C p.A26= Synonymous 3/5 -
19-37253268-A-C ZNF850 c.78T>G p.A26= Synonymous 3/5 -
19-12739912-C-T ZNF791 c.1569C>T p.P523= Synonymous 4/4 -
19-12739912-C-G ZNF791 c.1569C>G p.P523= Synonymous 4/4 -
19-12739912-C-A ZNF791 c.1569C>A p.P523= Synonymous 4/4 -
10-48370590-GC-TG ZNF488 c.58_59delGCinsTG p.A20C Missense 2/2 -
19-38230852-T-A ZNF573 c.539A>T p.H180L Missense 5/5 -
17-3984754-T-A ZZEF1 c.2745A>T p.L915F Missense 18/55 -
17-3984754-T-G ZZEF1 c.2745A>C p.L915F Missense 18/55 -
9-99521652-G-A ZNF510 c.1460C>T p.P487L Missense 6/6 -
5-124080289-T-G ZNF608 c.394A>C p.S132R Missense 2/10 -
19-53668553-G-T ZNF665 c.1190C>A p.T397N Missense 4/4 -
14-102808037-G-C ZNF839 c.2305G>C p.A769P Missense 8/8 -
5-123985321-T-A ZNF608 c.1232A>T p.H411L Missense 4/10 -
X-24483609-C-T PDK3 c.37C>T p.P13S Missense 1/11 -
16-70187304-A-T PDPR c.2063A>T p.H688L Missense 18/19 -
4-39918684-A-G PDS5A c.860T>C p.L287P Missense 8/33 -
13-33315257-G-A PDS5B c.2446G>A p.E816K Missense 22/35 -
10-27035361-C-A PDSS1 c.1207C>A p.L403I Missense 12/12 -
X-69507620-C-T PDZD11 c.289G>A p.V97M Missense 5/7 -
5-32089285-A-G PDZD2 c.5731A>G p.T1911A Missense 20/25 -
5-32087441-C-A PDZD2 c.3887C>A p.A1296E Missense 20/25 -
3-73453315-A-G PDZRN3 c.1150T>C p.Y384H Missense 4/10 -
12-41967097-G-T PDZRN4 c.2516G>T p.R839I Missense 10/10 -
12-41966431-T-C PDZRN4 c.1850T>C p.I617T Missense 10/10 -
19-57326078-C-A PEG3 c.3732G>T p.M1244I Missense 10/10 -
19-57328594-C-T PEG3 c.1216G>A p.D406N Missense 10/10 -
2-64323399-T-C PELI1 c.550A>G p.T184A Missense 6/7 -
5-52097426-G-T PELO c.910G>T p.E304* Nonsense 3/3 -
5-52096595-G-A PELO c.367G>A p.E123K Missense 2/3 -
1-2341873-C-G PEX10 c.130G>C p.E44Q Missense 2/6 -
10-102789873-G-C PDZD7 c.104C>G p.S35* Nonsense 2/17 -
6-137147485-G-A PEX7 c.217G>A p.V73M Missense 3/10 -
17-8158830-C-A PFAS c.395C>A p.P132H Missense 5/28 -
12-112087768-T-C BRAP c.1390A>G p.K464E Missense 11/12 -
13-73539420-A-C PIBF1 c.1842A>C p.R614S Missense 15/18 -
3-48561154-T-C PFKFB4 c.1202A>G p.Y401C Missense 11/14 -
10-3177999-G-A PFKP c.2194G>A p.V732M Missense 21/22 -
10-3155654-G-A PFKP c.1315G>A p.D439N Missense 13/22 -
17-37842227-G-A PGAP3 c.227C>T p.T76I Missense 2/8 -
1-249211207-G-T PGBD2 c.424G>T p.V142L Missense 3/3 -
4-37836265-A-G PGM2 c.275A>G p.Q92R Missense 3/14 -
9-70999448-A-G PGM5 c.559A>G p.K187E Missense 3/11 -
17-7139630-G-C PHF23 c.616C>G p.P206A Missense 4/5 -
X-133527567-G-T PHF6 c.277G>T p.G93C Missense 4/11 -
1-120286533-G-T PHGDH c.1472G>T p.R491L Missense 12/12 -
6-79707237-G-A PHIP c.2095C>T p.R699W Missense 19/40 -
X-18970621-C-T PHKA2 c.276G>A p.M92I Missense 3/33 -
X-18969292-G-T PHKA2 c.384C>A p.D128E Missense 4/33 -
3-111693318-T-A PHLDB2 c.3670T>A p.Y1224N Missense 18/18 -
16-71683236-T-C PHLPP2 c.3529A>G p.R1177G Missense 19/19 -
4-25265420-A-G PI4K2B c.1027A>G p.I343V Missense 7/10 -
18-44470887-G-A PIAS2 c.155C>T p.A52V Missense 2/14 -
1-145578441-A-G PIAS3 c.404A>G p.Y135C Missense 2/14 -
13-73468026-A-T PIBF1 c.1427A>T p.E476V Missense 11/18 -
9-35092632-C-T PIGO c.1252G>A p.E418K Missense 7/11 -
17-26882008-A-G PIGS c.1253T>C p.L418P Missense 11/12 -
3-196674504-G-A PIGZ c.1264C>T p.L422F Missense 3/3 -
11-111942472-T-C PIH1D2 c.188A>G p.E63G Missense 3/6 -
10-98416610-G-A PIK3AP1 c.512C>T p.T171M Missense 3/17 -
3-138384016-C-T PIK3CB c.2534G>A p.G845E Missense 20/24 -
5-67592034-C-G PIK3R1 c.1850C>G p.P617R Missense 15/16 -
17-8808196-T-C PIK3R5 c.310A>G p.K104E Missense 5/19 -
17-8809033-C-T PIK3R5 c.226G>A p.D76N Missense 4/19 -
1-20975019-T-C PINK1 c.1145T>C p.I382T Missense 6/8 -
12-57985101-C-T PIP4K2C c.29C>T p.T10M Missense 1/10 -
X-15509287-C-T PIR c.94G>A p.E32K Missense 2/10 -
17-1456343-T-C PITPNA c.152A>G p.D51G Missense 3/12 -
11-67267884-G-C PITPNM1 c.649C>G p.R217G Missense 6/24 -
17-6367996-C-T PITPNM3 c.1986G>A p.M662I Missense 15/20 -
4-111539506-A-T PITX2 c.750T>A p.N250K Missense 3/3 -
4-111539567-G-C PITX2 c.689C>G p.S230W Missense 3/3 -
8-22138985-G-A PIWIL2 c.382G>A p.A128T Missense 4/23 -
16-2160529-G-A PKD1 c.4639C>T p.R1547C Missense 15/46 -
7-47921639-C-A PKD1L1 c.3310G>T p.E1104* Nonsense 20/57 -
16-2166058-C-T PKD1 c.1784G>A p.G595E Missense 9/46 -
22-46658226-C-T PKDREJ c.994G>A p.V332I Missense 1/1 -
22-46653016-A-C PKDREJ c.6204T>G p.Y2068* Nonsense 1/1 -
6-51613023-G-A PKHD1 c.9391C>T p.H3131Y Missense 58/67 -
17-8792478-G-GT PIK3R5 c.872dupA p.Y291* Nonsense 9/19 -
10-98386581-T-A PIK3AP1 c.1553A>T p.D518V Missense 10/17 -
11-17156513-T-A PIK3C2A c.1961A>T p.D654V Missense 11/33 -
19-57327275-TCT-ATG PEG3 c.2533_2535delAGAinsCAT p.R845H Missense 10/10 -
7-47930193-CCG-ACA PKD1L1 c.2620_2622delCGGinsTGT p.R874C Missense 16/57 -
11-17158062-TCT-ATG PIK3C2A c.1813_1815delAGAinsCAT p.R605H Missense 9/33 -
7-92157722-C-A PEX1 c.28G>T p.A10S Missense 1/24 -
16-71724596-C-A PHLPP2 c.435G>T p.M145I Missense 4/19 -
4-39978141-GGC-CAT PDS5A c.55_57delGCCinsATG p.A19M Missense 2/33 -
3-138453498-G-C PIK3CB c.950C>G p.P317R Missense 7/24 -
11-71954995-CGC-AAA PHOX2A c.52_54delGCGinsTTT p.A18F Missense 1/3 -
18-44424018-G-C PIAS2 c.1040C>G p.P347R Missense 8/14 -
4-37828412-GC-TG PGM2 c.58_59delGCinsTG p.A20C Missense 1/14 -
4-37846152-C-G PGM2 c.887C>G p.P296R Missense 7/14 -
4-95444893-GCA-ATG PDLIM5 c.115_117delGCAinsATG p.A39M Missense 3/13 -
12-112103578-G-C BRAP c.761C>G p.P254R Missense 6/12 -
3-48594136-A-T PFKFB4 c.75T>A p.A25= Synonymous 1/14 -
3-48594136-A-G PFKFB4 c.75T>C p.A25= Synonymous 1/14 -
3-48594136-A-C PFKFB4 c.75T>G p.A25= Synonymous 1/14 -
4-111543554-G-T PITX2 c.63C>A p.A21= Synonymous 1/3 -
4-111543554-G-C PITX2 c.63C>G p.A21= Synonymous 1/3 -
4-111543554-G-A PITX2 c.63C>T p.A21= Synonymous 1/3 -
13-33226030-T-C PDS5B c.198T>C p.D66= Synonymous 3/35 -
X-69509123-TGC-CAT PDZD11 c.67_69delGCAinsATG p.A23M Missense 2/7 -
X-69509124-GC-TT PDZD11 c.67_68delGCinsAA p.A23K Missense 2/7 -
3-138474769-A-G PIK3CB c.224T>C p.I75T Missense 4/24 -
8-57354476-TTC-AAA PENK c.157_159delGAAinsTTT p.E53F Missense 4/4 -
X-22051188-C-A PHEX c.65C>A p.A22D Missense 1/22 -
11-67267883-C-T PITPNM1 c.650G>A p.R217Q Missense 6/24 -
4-37828391-GC-CT PGM2 c.37_38delGCinsCT p.A13L Missense 1/14 -
11-804350-AGC-CCA PIDD1 c.37_39delGCTinsTGG p.A13W Missense 2/16 -
16-71724596-C-G PHLPP2 c.435G>C p.M145I Missense 4/19 -
16-71724596-C-T PHLPP2 c.435G>A p.M145I Missense 4/19 -
9-35095498-GC-AG PIGO c.64_65delGCinsCT p.A22L Missense 2/11 -
11-118486824-TGC-GAG PHLDB1 c.253_255delTGCinsGAG p.C85E Missense 4/23 -
17-26898199-GGC-CCA PIGS c.40_42delGCCinsTGG p.A14W Missense 2/12 -
10-98411392-G-C PIK3AP1 c.729C>G p.N243K Missense 5/17 -
10-98411392-G-T PIK3AP1 c.729C>A p.N243K Missense 5/17 -
17-26898169-A-T PIGS c.72T>A p.A24= Synonymous 2/12 -
17-26898169-A-G PIGS c.72T>C p.A24= Synonymous 2/12 -
17-26898169-A-C PIGS c.72T>G p.A24= Synonymous 2/12 -
4-25256854-C-G PI4K2B c.591C>G p.N197K Missense 3/10 -
4-25256854-C-A PI4K2B c.591C>A p.N197K Missense 3/10 -
11-17191094-TGC-AAA PIK3C2A c.193_195delGCAinsTTT p.A65F Missense 2/33 -
6-137147463-C-T PEX7 c.195C>T p.D65= Synonymous 3/10 -
4-111539587-AG-CC PITX2 c.668_669delCTinsGG p.S223W Missense 3/3 -
3-196675237-GG-CC PIGZ c.530_531delCCinsGG p.S177W Missense 3/3 -
1-20960123-G-T PINK1 c.82G>T p.A28S Missense 1/8 -
4-111539567-G-A PITX2 c.689C>T p.S230L Missense 3/3 -
4-111539588-GA-AG PITX2 c.667_668delTCinsCT p.S223L Missense 3/3 -
6-79770245-C-T PHIP c.389G>A p.C130Y Missense 6/40 -
7-47944123-G-A PKD1L1 c.1783C>T p.R595W Missense 12/57 -
3-138478065-A-G PIK3CB c.121T>C p.Y41H Missense 3/24 -
3-48563017-T-C PFKFB4 c.1073A>G p.Y358C Missense 10/14 -
3-73433574-A-T PDZRN3 c.2143T>A p.Y715N Missense 10/10 -
19-57328629-T-C PEG3 c.1181A>G p.Y394C Missense 10/10 -
4-39929622-A-G PDS5A c.301T>C p.Y101H Missense 3/33 -
X-69508002-C-T PDZD11 c.193G>A p.G65R Missense 4/7 -
X-69508002-C-G PDZD11 c.193G>C p.G65R Missense 4/7 -
16-2161627-A-T PKD1 c.3541T>A p.Y1181N Missense 15/46 -
16-71712856-A-G PHLPP2 c.1070T>C p.L357P Missense 8/19 -
16-70161245-T-C PDPR c.310T>C p.Y104H Missense 4/19 -
3-48561259-T-C PFKFB4 c.1097A>G p.Y366C Missense 11/14 -
5-67589181-A-G PIK3R1 c.1169A>G p.Y390C Missense 10/16 -
17-26882032-A-G PIGS c.1229T>C p.L410P Missense 11/12 -
13-33275460-CG-AT PDS5B c.1741_1742delCGinsAT p.R581I Missense 17/35 -
3-73433981-CG-AT PDZRN3 c.1735_1736delCGinsAT p.R579I Missense 10/10 -
6-79707160-TAC-CAT PHIP c.2170_2172delGTAinsATG p.V724M Missense 19/40 -
11-118498935-CGG-ATC PHLDB1 c.1396_1398delCGGinsATC p.R466I Missense 6/23 -
4-39878684-TAC-CAT PDS5A c.2080_2082delGTAinsATG p.V694M Missense 19/33 -
4-37850268-G-A PGM2 c.1408G>A p.V470M Missense 11/14 -
10-102789962-G-A PDZD7 c.15C>T p.F5= Synonymous 2/17 -
12-41900490-T-C PDZRN4 c.1076T>C p.I359T Missense 4/10 -
10-102781973-C-T PDZD7 c.712G>A p.V238M Missense 5/17 -
17-8160276-T-C PFAS c.1070T>C p.I357T Missense 9/28 -
X-18972399-G-C PHKA2 c.210C>G p.D70E Missense 2/33 -
X-18972399-G-T PHKA2 c.210C>A p.D70E Missense 2/33 -
9-70972262-G-C PGM5 c.219G>C p.R73S Missense 1/11 -
9-70972262-G-T PGM5 c.219G>T p.R73S Missense 1/11 -
19-57330009-A-G PEG3 c.731T>C p.I244T Missense 8/10 -
11-118498830-G-A PHLDB1 c.1291G>A p.D431N Missense 6/23 -
X-22108550-G-A PHEX c.667G>A p.D223N Missense 6/22 -
10-3146045-G-A PFKP c.529G>A p.D177N Missense 5/22 -
3-111603026-G-C PHLDB2 c.102G>C p.M34I Missense 2/18 -
3-111603026-G-A PHLDB2 c.102G>A p.M34I Missense 2/18 -
3-111603026-G-T PHLDB2 c.102G>T p.M34I Missense 2/18 -
6-79675439-C-G PHIP c.3360G>C p.M1120I Missense 29/40 -
6-79675439-C-T PHIP c.3360G>A p.M1120I Missense 29/40 -
6-79675439-C-A PHIP c.3360G>T p.M1120I Missense 29/40 -
1-249211297-T-C PGBD2 c.514T>C p.L172= Synonymous 3/3 -
1-249211299-G-A PGBD2 c.516G>A p.L172= Synonymous 3/3 -
3-111603324-C-T PHLDB2 c.400C>T p.R134W Missense 2/18 -
4-39918728-A-C PDS5A c.816T>G p.L272= Synonymous 8/33 -
4-39918728-A-T PDS5A c.816T>A p.L272= Synonymous 8/33 -
4-39918728-A-G PDS5A c.816T>C p.L272= Synonymous 8/33 -
17-7139028-C-T PHF23 c.1129G>A p.D377N Missense 5/5 -
6-79707239-A-T PHIP c.2093T>A p.V698E Missense 19/40 -
5-52096550-C-G PELO c.322C>G p.R108G Missense 2/3 -
17-37829359-C-T PGAP3 c.844G>A p.D282N Missense 7/8 -
11-3845543-C-T PGAP2 c.645C>T p.L215= Synonymous 5/7 -
11-3845543-C-G PGAP2 c.645C>G p.L215= Synonymous 5/7 -
11-3845543-C-A PGAP2 c.645C>A p.L215= Synonymous 5/7 -
19-57328595-G-A PEG3 c.1215C>T p.H405= Synonymous 10/10 -
4-37841488-T-C PGM2 c.460T>C p.L154= Synonymous 5/14 -
4-37841490-G-A PGM2 c.462G>A p.L154= Synonymous 5/14 -
1-120263821-C-T PHGDH c.167C>T p.A56V Missense 2/12 -
X-22051136-A-G PHEX c.13A>G p.T5A Missense 1/22 -
3-73673562-C-G PDZRN3 c.415G>C p.V139L Missense 1/10 -
3-73673562-C-A PDZRN3 c.415G>T p.V139L Missense 1/10 -
10-27035319-AG-CT PDSS1 c.1165_1166delAGinsCT p.R389L Missense 12/12 -
3-111671537-T-C PHLDB2 c.2750T>C p.M917T Missense 11/18 -
9-70993253-G-A PGM5 c.400G>A p.V134M Missense 2/11 -
9-70972218-G-T PGM5 c.175G>T p.G59C Missense 1/11 -
X-22108573-C-A PHEX c.690C>A p.A230= Synonymous 6/22 -
X-22108573-C-G PHEX c.690C>G p.A230= Synonymous 6/22 -
X-22108573-C-T PHEX c.690C>T p.A230= Synonymous 6/22 -
4-25258279-A-G PI4K2B c.739A>G p.I247V Missense 4/10 -
7-92147512-G-C PEX1 c.415C>G p.P139A Missense 4/24 -
4-186429469-C-T PDLIM3 c.646G>A p.E216K Missense 5/8 -
X-69508353-T-A PDZD11 c.98A>T p.H33L Missense 3/7 -
17-7139702-C-T PHF23 c.544G>A p.D182N Missense 4/5 -
4-39928403-A-T PDS5A c.421T>A p.L141I Missense 4/33 -
16-71736521-C-T PHLPP2 c.398G>A p.C133Y Missense 3/19 -
1-145580589-C-T PIAS3 c.889C>T p.P297S Missense 7/14 -
4-95575675-A-G PDLIM5 c.1348A>G p.K450E Missense 10/13 -
1-120285611-CC-AA PHGDH c.1391_1392delCCinsAA p.P464Q Missense 11/12 -
1-120285611-C-T PHGDH c.1391C>T p.P464L Missense 11/12 -
9-70993142-G-A PGM5 c.289G>A p.G97S Missense 2/11 -
8-145731903-C-T GPT c.1151C>T p.A384V Missense 9/11 -
7-47944122-C-T PKD1L1 c.1784G>A p.R595Q Missense 12/57 -
X-18972505-G-C PHKA2 c.104C>G p.A35G Missense 2/33 -
4-186429465-G-A PDLIM3 c.650C>T p.T217I Missense 5/8 -
11-71950915-C-T PHOX2A c.733G>A p.A245T Missense 3/3 -
5-90084066-A-G ADGRV1 c.13832A>G p.K4611R Missense 68/90 -
X-101910801-A-T GPRASP1 c.1960A>T p.M654L Missense 6/6 -
4-90170054-G-T GPRIN3 c.1208C>A p.A403D Missense 2/2 -
14-65406325-A-G GPX2 c.454T>C p.W152R Missense 2/2 -
5-54456042-C-T GPX8 c.22C>T p.P8S Missense 1/3 -
15-72457708-T-G GRAMD2A c.587A>C p.E196A Missense 8/12 -
6-146351060-G-A GRM1 c.407G>A p.G136E Missense 1/8 -
4-158142928-G-C GRIA2 c.198G>C p.E66D Missense 2/16 -
4-158142278-G-C GRIA2 c.84G>C p.Q28H Missense 1/16 -
10-87407024-G-A GRID1 c.2128C>T p.R710W Missense 13/16 -
4-94693647-T-C GRID2 c.3022T>C p.*1008Rext*29 Missense 16/16 -
6-102307352-G-A GRIK2 c.1508G>A p.R503H Missense 11/17 -
1-37356590-G-A GRIK3 c.223C>T p.P75S Missense 2/16 -
16-9923438-C-A GRIN2A c.1849G>T p.V617L Missense 9/13 -
12-13769559-C-T GRIN2B c.1158G>A p.M386I Missense 6/14 -
12-13906627-C-T GRIN2B c.634G>A p.G212R Missense 4/14 -
19-48917682-G-C GRIN2D c.1253G>C p.R418P Missense 6/14 -
19-48908178-G-A GRIN2D c.653G>A p.R218H Missense 4/14 -
9-104432410-C-T GRIN3A c.2284G>A p.A762T Missense 3/9 -
8-145066705-C-T GRINA c.895C>T p.L299F Missense 6/7 -
1-37307419-A-G GRIK3 c.1448T>C p.I483T Missense 10/16 -
6-146351093-T-C GRM1 c.440T>C p.L147P Missense 1/8 -
3-51746681-G-T GRM2 c.643G>T p.D215Y Missense 3/6 -
6-34059809-G-A GRM4 c.587C>T p.S196F Missense 3/11 -
6-34003992-C-T GRM4 c.1895G>A p.G632D Missense 9/11 -
5-178418557-C-G GRM6 c.725G>C p.G242A Missense 4/11 -
6-52616490-C-T GSTA2 c.431G>A p.G144E Missense 6/7 -
1-110280288-G-A GSTM3 c.458C>T p.A153V Missense 7/9 -
1-110280188-A-G GSTM3 c.470T>C p.L157P Missense 8/9 -
13-45725876-C-T GTF2F2 c.214C>T p.P72S Missense 4/8 -
7-73927266-G-A GTF2IRD1 c.230G>A p.R77Q Missense 3/27 -
22-39112749-G-A GTPBP1 c.578G>A p.R193H Missense 4/12 -
10-1046805-C-A GTPBP4 c.843C>A p.N281K Missense 7/17 -
10-1060250-G-A GTPBP4 c.1606G>A p.D536N Missense 15/17 -
1-42620417-C-A GUCA2B c.157C>A p.P53T Missense 2/3 -
4-156631708-G-C GUCY1A1 c.391G>C p.V131L Missense 6/10 -
1-228335189-G-A GUK1 c.334G>A p.A112T Missense 6/9 -
2-189452645-C-T GULP1 c.812C>T p.P271L Missense 11/12 -
12-21733368-C-G GYS2 c.211G>C p.E71Q Missense 2/16 -
20-23349552-T-C GZF1 c.1613T>C p.I538T Missense 4/6 -
19-547312-C-T GZMM c.88C>T p.R30W Missense 2/5 -
2-43010952-T-A HAAO c.215A>T p.H72L Missense 3/10 -
6-105198273-C-A HACE1 c.2286G>T p.Q762H Missense 20/24 -
3-15616558-A-G HACL1 c.835T>C p.F279L Missense 10/17 -
2-26457150-G-T HADHA c.388C>A p.L130I Missense 5/20 -
5-82940234-C-A HAPLN1 c.723G>T p.W241C Missense 4/5 -
17-39890480-A-C HAP1 c.407T>G p.V136G Missense 1/11 -
6-135287541-T-C HBS1L c.1969A>G p.K657E Missense 17/18 -
6-135314952-T-C HBS1L c.1027A>G p.M343V Missense 8/18 -
16-202931-G-A HBZ c.23G>A p.R8K Missense 1/3 -
12-123214145-G-A HCAR1 c.742C>T p.P248S Missense 1/1 -
12-123201154-C-T HCAR3 c.131G>A p.G44D Missense 1/1 -
1-37337931-C-T GRIK3 c.590G>A p.R197K Missense 4/16 -
3-121351231-G-C HCLS1 c.1188C>G p.D396E Missense 12/14 -
5-45262699-G-A HCN1 c.1997C>T p.P666L Missense 8/8 -
5-45262720-C-T HCN1 c.1976G>A p.R659H Missense 8/8 -
1-32092570-G-T HCRTR1 c.1267G>T p.V423L Missense 9/9 -
X-71681859-G-A HDAC8 c.1000C>T p.H334Y Missense 9/11 -
17-42164836-C-T HDAC5 c.1828G>A p.E610K Missense 13/27 -
2-242179484-G-C HDLBP c.2223C>G p.F741L Missense 18/28 -
1-236729279-G-C HEATR1 c.4375C>G p.Q1459E Missense 31/45 -
1-236719122-G-A HEATR1 c.5632C>T p.R1878* Nonsense 39/45 -
14-31765218-G-A HEATR5A c.5516C>T p.T1839I Missense 34/36 -
17-58143675-T-A HEATR6 c.1311A>T p.K437N Missense 9/20 -
5-41065518-C-A MROH2B c.276G>T p.M92I Missense 4/42 -
17-65186416-G-C HELZ c.613C>G p.Q205E Missense 10/33 -
17-65174829-C-A HELZ c.1376G>T p.R459L Missense 13/33 -
17-39888234-GCTT-G HAP1 c.848_850delAAG p.E283del InFrameDeletion 4/11 -
6-105219081-G-A HACE1 c.2198C>T p.T733I Missense 19/24 -
19-48908177-C-T GRIN2D c.652C>T p.R218C Missense 4/14 -
20-23350359-C-T GZF1 c.1766C>T p.T589I Missense 5/6 -
12-14018955-G-A GRIN2B c.188C>T p.S63F Missense 3/14 -
15-72462242-CT-AA GRAMD2A c.79_80delAGinsTT p.S27F Missense 2/12 -
19-35512855-G-A GRAMD1A c.1754G>A p.G585D Missense 16/20 -
8-145731629-G-A GPT c.971G>A p.G324D Missense 8/11 -
12-13768451-TC-GT GRIN2B c.1475_1476delGAinsAC p.G492D Missense 7/14 -
4-158242684-A-G GRIA2 c.815A>G p.K272R Missense 6/16 -
12-13768430-TC-GT GRIN2B c.1496_1497delGAinsAC p.G499D Missense 7/14 -
17-39882128-CC-GT HAP1 c.1388_1389delGGinsAC p.G463D Missense 10/11 -
6-135307934-T-A HBS1L c.1245A>T p.Q415H Missense 10/18 -
6-52616491-C-T GSTA2 c.430G>A p.G144R Missense 6/7 -
6-52616491-C-G GSTA2 c.430G>C p.G144R Missense 6/7 -
19-547351-CTG-ATC GZMM c.127_129delCTGinsATC p.L43I Missense 2/5 -
5-54457066-C-T GPX8 c.449C>T p.A150V Missense 2/3 -
22-39112760-T-C GTPBP1 c.589T>C p.F197L Missense 4/12 -
22-39112762-C-A GTPBP1 c.591C>A p.F197L Missense 4/12 -
22-39112762-C-G GTPBP1 c.591C>G p.F197L Missense 4/12 -
12-13906286-G-T GRIN2B c.975C>A p.H325Q Missense 4/14 -
12-13906286-G-C GRIN2B c.975C>G p.H325Q Missense 4/14 -
16-10032066-A-G GRIN2A c.757T>C p.F253L Missense 3/13 -
16-10032064-G-T GRIN2A c.759C>A p.F253L Missense 3/13 -
6-135307934-T-G HBS1L c.1245A>C p.Q415H Missense 10/18 -
16-10032064-G-C GRIN2A c.759C>G p.F253L Missense 3/13 -
1-37337789-C-A GRIK3 c.732G>T p.Q244H Missense 4/16 -
1-37337789-C-G GRIK3 c.732G>C p.Q244H Missense 4/16 -
4-158242623-T-C GRIA2 c.754T>C p.F252L Missense 6/16 -
4-158242625-T-A GRIA2 c.756T>A p.F252L Missense 6/16 -
4-158242625-T-G GRIA2 c.756T>G p.F252L Missense 6/16 -
4-94344093-G-C GRID2 c.1519G>C p.G507R Missense 10/16 -
14-31849740-T-A HEATR5A c.1641A>T p.Q547H Missense 11/36 -
14-31849740-T-G HEATR5A c.1641A>C p.Q547H Missense 11/36 -
5-89923207-T-A ADGRV1 c.852T>A p.V284= Synonymous 7/90 -
5-89923207-T-C ADGRV1 c.852T>C p.V284= Synonymous 7/90 -
5-89923207-T-G ADGRV1 c.852T>G p.V284= Synonymous 7/90 -
1-37319227-C-G GRIK3 c.1201G>C p.G401R Missense 8/16 -
22-39112748-C-T GTPBP1 c.577C>T p.R193C Missense 4/12 -
5-178419076-C-A GRM6 c.513G>T p.Q171H Missense 3/11 -
5-178419076-C-G GRM6 c.513G>C p.Q171H Missense 3/11 -
10-96361328-A-G HELLS c.2466A>G p.I822M Missense 22/22 -
2-26420562-T-C HADHA c.1477A>G p.K493E Missense 14/20 -
4-90169090-G-C GPRIN3 c.2172C>G p.I724M Missense 2/2 -
9-19078224-T-C HAUS6 c.1141A>G p.K381E Missense 10/17 -
7-74105345-T-C GTF2I c.140T>C p.I47T Missense 3/35 -
20-23350785-A-G GZF1 c.1843A>G p.K615E Missense 6/6 -
2-242189385-G-C HDLBP c.1383C>G p.I461M Missense 12/28 -
4-158142915-T-C GRIA2 c.185T>C p.I62T Missense 2/16 -
15-64067288-T-C HERC1 c.535A>G p.M179V Missense 2/78 -
7-74160734-T-G GTF2I c.2052T>G p.I684M Missense 23/35 -
X-71788700-T-C HDAC8 c.199A>G p.M67V Missense 3/11 -
5-54456044-G-T GPX8 c.24G>T p.P8= Synonymous 1/3 -
5-178413864-T-G GRM6 c.1475A>C p.Q492P Missense 8/11 -
5-54456044-G-A GPX8 c.24G>A p.P8= Synonymous 1/3 -
5-54456044-G-C GPX8 c.24G>C p.P8= Synonymous 1/3 -
1-37325504-T-C GRIK3 c.901A>G p.M301V Missense 6/16 -
17-65186416-G-A HELZ c.613C>T p.Q205* Nonsense 10/33 -
19-35500211-G-A GRAMD1A c.197G>A p.R66Q Missense 2/20 -
9-104499990-G-A GRIN3A c.272C>T p.P91L Missense 1/9 -
12-13769410-C-A GRIN2B c.1307G>T p.C436F Missense 6/14 -
15-72457711-C-A GRAMD2A c.584G>T p.G195V Missense 8/12 -
5-89918463-C-T ADGRV1 c.503C>T p.P168L Missense 5/90 -
12-21713412-G-C GYS2 c.1077C>G p.D359E Missense 8/16 -
12-21713412-G-T GYS2 c.1077C>A p.D359E Missense 8/16 -
16-202973-C-A HBZ c.65C>A p.A22D Missense 1/3 -
5-89910692-T-A ADGRV1 c.63T>A p.A21= Synonymous 2/90 -
1-110280962-G-T GSTM3 c.216C>A p.N72K Missense 5/9 -
5-89910692-T-C ADGRV1 c.63T>C p.A21= Synonymous 2/90 -
5-89910692-T-G ADGRV1 c.63T>G p.A21= Synonymous 2/90 -
8-145731745-AG-CT GPT c.1087_1088delAGinsCT p.S363L Missense 8/11 -
14-65409354-C-T GPX2 c.91G>A p.V31M Missense 1/2 -
4-90170138-CT-AG GPRIN3 c.1123_1124delAGinsCT p.S375L Missense 2/2 -
5-45262720-C-A HCN1 c.1976G>T p.R659L Missense 8/8 -
4-90171097-G-A GPRIN3 c.165C>T p.D55= Synonymous 2/2 -
19-35510124-AG-CT GRAMD1A c.1243_1244delAGinsCT p.S415L Missense 12/20 -
5-45262721-G-T HCN1 c.1975C>A p.R659S Missense 8/8 -
5-45262722-G-C HCN1 c.1974C>G p.S658= Synonymous 8/8 -
5-45262722-G-T HCN1 c.1974C>A p.S658= Synonymous 8/8 -
4-90171209-GC-AA GPRIN3 c.52_53delGCinsTT p.A18F Missense 2/2 -
6-102247652-AG-TT GRIK2 c.1081_1082delAGinsTT p.S361F Missense 8/17 -
7-74105338-GC-TT GTF2I c.133_134delGCinsTT p.A45F Missense 3/35 -
19-35505186-C-G GRAMD1A c.964C>G p.P322A Missense 10/20 -
1-37346397-C-G GRIK3 c.388G>C p.V130L Missense 3/16 -
1-37346397-C-A GRIK3 c.388G>T p.V130L Missense 3/16 -
8-145729779-GG-AT GPT c.92_93delGGinsAT p.R31H Missense 1/11 -
14-65409406-GGC-TTA GPX2 c.37_39delGCCinsTAA p.A13* Nonsense 1/2 -
5-89910798-AGG-CAT ADGRV1 c.169_171delAGGinsCAT p.R57H Missense 2/90 -
6-135318763-G-A HBS1L c.571C>T p.H191Y Missense 6/18 -
16-10274194-C-T GRIN2A c.75G>A p.A25= Synonymous 2/13 -
16-10274194-C-G GRIN2A c.75G>C p.A25= Synonymous 2/13 -
16-10274194-C-A GRIN2A c.75G>T p.A25= Synonymous 2/13 -
5-54456066-GCA-TGT GPX8 c.46_48delGCAinsTGT p.A16C Missense 1/3 -
12-14019093-G-A GRIN2B c.50C>T p.A17V Missense 3/14 -
14-65409388-C-G GPX2 c.57G>C p.E19D Missense 1/2 -
14-65409388-C-A GPX2 c.57G>T p.E19D Missense 1/2 -
5-45695973-C-T HCN1 c.223G>A p.E75K Missense 1/8 -
10-87487680-C-T GRID1 c.1465G>A p.D489N Missense 10/16 -
6-105219157-A-G HACE1 c.2122T>C p.F708L Missense 19/24 -
6-105219155-A-T HACE1 c.2124T>A p.F708L Missense 19/24 -
6-105219155-A-C HACE1 c.2124T>G p.F708L Missense 19/24 -
22-39102018-GC-TG GTPBP1 c.58_59delGCinsTG p.A20C Missense 1/12 -
2-26416470-G-C HADHA c.1861C>G p.Q621E Missense 17/20 -
5-45696127-GGC-CAT HCN1 c.67_69delGCCinsATG p.A23M Missense 1/8 -
4-158254137-A-C GRIA2 c.1049A>C p.Q350P Missense 7/16 -
5-45696127-GGC-CTT HCN1 c.67_69delGCCinsAAG p.A23K Missense 1/8 -
10-1046802-C-A GTPBP4 c.840C>A p.I280= Synonymous 7/17 -
10-1046802-C-T GTPBP4 c.840C>T p.I280= Synonymous 7/17 -
10-1046664-C-G GTPBP4 c.702C>G p.N234K Missense 7/17 -
10-1046664-C-A GTPBP4 c.702C>A p.N234K Missense 7/17 -
3-121353150-C-G HCLS1 c.807G>C p.K269N Missense 10/14 -
3-121353150-C-A HCLS1 c.807G>T p.K269N Missense 10/14 -
4-42965019-C-G GRXCR1 c.495C>G p.N165K Missense 2/4 -
4-42965019-C-A GRXCR1 c.495C>A p.N165K Missense 2/4 -
12-13717568-G-C GRIN2B c.2604C>G p.I868M Missense 14/14 -
2-189458693-TGAA-T GULP1 c.872_874delAAG p.E291del InFrameDeletion 12/12 -
1-110280962-G-C GSTM3 c.216C>G p.N72K Missense 5/9 -
6-52617659-A-C GSTA2 c.407T>G p.F136C Missense 5/7 -
22-39104901-A-G GTPBP1 c.244A>G p.M82V Missense 2/12 -
14-65406309-A-G GPX2 c.470T>C p.F157S Missense 2/2 -
7-73927248-G-A GTF2IRD1 c.212G>A p.R71K Missense 3/27 -
X-11139095-G-A HCCS c.590G>A p.R197Q Missense 6/7 -
11-124791134-G-A HEPACAM c.1151C>T p.S384L Missense 7/7 -
19-548980-G-A GZMM c.407G>A p.R136H Missense 4/5 -
7-74159174-G-A GTF2I c.1828G>A p.E610K Missense 21/35 -
5-153026644-G-A GRIA1 c.377G>A p.R126H Missense 3/16 -
17-39888235-C-T HAP1 c.850G>A p.A284T Missense 4/11 -
2-3691640-G-A COLEC11 c.748G>A p.G250S Missense 7/7 -
19-4171827-A-G CREB3L3 c.1247A>G p.E416G Missense 10/10 -
2-62132935-C-A COMMD1 c.122C>A p.P41Q Missense 1/3 -
8-141569604-G-A AGO2 c.680C>T p.A227V Missense 6/19 -
4-47839953-G-C CORIN c.14C>G p.P5R Missense 1/22 -
10-76995114-G-A COMTD1 c.239C>T p.P80L Missense 3/7 -
X-77155051-A-G COX7B c.1A>G p.M1? Missense 1/3 -
4-166416761-A-G CPE c.1264A>G p.T422A Missense 8/9 -
4-166403472-G-A CPE c.751G>A p.D251N Missense 4/9 -
3-98304370-G-T CPOX c.1087C>A p.P363T Missense 5/7 -
2-9570993-G-A CPSF3 c.325G>A p.D109N Missense 4/18 -
12-69651614-C-T CPSF6 c.623C>T p.P208L Missense 5/10 -
11-68582878-C-T CPT1A c.65G>A p.R22Q Missense 2/19 -
X-120009012-C-T CT47B1 c.513G>A p.L171= Synonymous 1/3 -
11-68542876-G-A CPT1A c.1483C>T p.Q495* Nonsense 13/19 -
19-50215184-G-A CPT1C c.1985G>A p.R662Q Missense 17/20 -
4-8605771-T-A CPZ c.565T>A p.S189T Missense 4/11 -
1-197391022-C-G CRB1 c.2064C>G p.I688M Missense 6/12 -
19-4171092-C-A CREB3L3 c.895C>A p.L299I Missense 8/10 -
19-4157169-G-A CREB3L3 c.334G>A p.G112S Missense 3/10 -
19-4154971-G-A CREB3L3 c.103G>A p.G35S Missense 2/10 -
3-9976166-G-A CRELD1 c.44G>A p.W15* Nonsense 2/11 -
4-8608492-G-A CPZ c.935G>A p.G312E Missense 6/11 -
1-153924016-G-A CRTC2 c.1124C>T p.S375F Missense 11/14 -
12-107415951-C-T CRY1 c.178G>A p.E60K Missense 2/13 -
X-1407736-C-T CSF2RA c.428C>T p.T143M Missense 6/13 -
22-37325500-C-A CSF2RB c.448C>A p.L150M Missense 5/14 -
4-8621135-C-T CPZ c.1750C>T p.L584= Synonymous 11/11 -
1-36937076-C-T CSF3R c.1243G>A p.G415R Missense 10/17 -
8-2832078-C-T CSMD1 c.8635G>A p.A2879T Missense 56/70 -
8-4494931-G-C CSMD1 c.235C>G p.L79V Missense 2/70 -
4-8602883-G-C CPZ c.155G>C p.S52T Missense 3/11 -
8-3008978-G-T CSMD1 c.5972C>A p.P1991Q Missense 40/70 -
8-113418891-C-T CSMD3 c.5671G>A p.G1891S Missense 35/71 -
8-113358377-A-G CSMD3 c.6391T>C p.Y2131H Missense 41/71 -
8-113529419-G-A CSMD3 c.4600C>T p.P1534S Missense 28/71 -
15-75969141-C-T CSPG4 c.5719G>A p.V1907M Missense 10/10 -
12-51467752-C-G CSRNP2 c.265G>C p.G89R Missense 3/5 -
11-65780827-C-T CST6 c.406C>T p.Q136* Nonsense 3/3 -
X-120008779-G-A CT47B1 c.746C>T p.P249L Missense 1/3 -
18-19997738-C-T CTAGE1 c.37G>A p.E13K Missense 1/1 -
1-85028950-T-C CTBS c.947A>G p.Y316C Missense 6/7 -
17-8141916-G-A CTC1 c.229C>T p.Q77* Nonsense 3/23 -
16-67663340-G-C CTCF c.1741G>C p.D581H Missense 10/12 -
16-67663378-G-C CTCF c.1779G>C p.K593N Missense 10/12 -
18-77474796-A-G CTDP1 c.1336A>G p.T446A Missense 8/13 -
11-57573460-A-C CTNND1 c.1829A>C p.N610T Missense 10/21 -
5-11159811-A-G CTNND2 c.2036T>C p.L679P Missense 12/22 -
X-16720901-T-C CTPS2 c.125A>G p.Y42C Missense 2/19 -
11-10781747-G-A CTR9 c.620G>A p.C207Y Missense 6/25 -
3-98304446-G-C CPOX c.1011C>G p.I337M Missense 5/7 -
1-150727538-C-T CTSS c.338G>A p.R113Q Missense 4/8 -
7-117368303-A-G CTTNBP2 c.3895T>C p.S1299P Missense 17/23 -
7-117432306-T-C CTTNBP2 c.944A>G p.N315S Missense 4/23 -
7-117431643-C-T CTTNBP2 c.1607G>A p.R536Q Missense 4/23 -
8-113657422-C-A CSMD3 c.3226G>T p.G1076* Nonsense 20/71 -
17-36959028-A-G CWC25 c.1088T>C p.L363P Missense 9/10 -
2-219029655-T-C CXCR1 c.280A>G p.I94V Missense 2/2 -
X-115592946-C-T CT83 c.304G>A p.G102S Missense 2/2 -
X-70324246-G-A CXorf65 c.328C>T p.R110C Missense 5/6 -
1-197396820-A-G CRB1 c.2365A>G p.N789D Missense 7/12 -
10-94000046-CGCT-C CPEB3 c.59_61delAGC p.Q20del InFrameDeletion 2/10 -
8-67089558-TGCG-T CRH c.152_154delCGC p.P51del InFrameDeletion 2/2 -
12-107393343-C-T CRY1 c.1123G>A p.E375K Missense 7/13 -
5-11732380-AGC-CCA CTNND2 c.40_42delGCTinsTGG p.A14W Missense 2/22 -
11-77103386-AG-TT PAK1 c.179_180delCTinsAA p.P60Q Missense 2/15 -
12-51458167-C-T CSRNP2 c.994G>A p.E332K Missense 5/5 -
19-50213983-AG-CA CPT1C c.1735_1736delAGinsCA p.R579Q Missense 16/20 -
2-9570960-GC-TT CPSF3 c.292_293delGCinsTT p.A98F Missense 4/18 -
2-9611567-G-A CPSF3 c.1952G>A p.R651Q Missense 17/18 -
11-10785047-G-A CTR9 c.919G>A p.E307K Missense 8/25 -
5-11732264-G-T CTNND2 c.158C>A p.A53D Missense 2/22 -
2-9572805-C-G CPSF3 c.507C>G p.I169M Missense 5/18 -
8-113988336-C-T CSMD3 c.1072G>A p.E358K Missense 7/71 -
3-98304412-C-T CPOX c.1045G>A p.E349K Missense 5/7 -
7-117501332-CTC-AAA CTTNBP2 c.118_120delGAGinsTTT p.E40F Missense 2/23 -
16-67663337-C-A CTCF c.1738C>A p.P580T Missense 10/12 -
22-19166149-GC-AG SLC25A1 c.37_38delGCinsCT p.A13L Missense 1/9 -
12-69652540-TTG-ATC CPSF6 c.865_867delTTGinsATC p.L289I Missense 6/10 -
19-50204652-T-A CPT1C c.532T>A p.S178T Missense 6/20 -
22-19166104-GC-TA SLC25A1 c.82_83delGCinsTA p.A28* Nonsense 1/9 -
4-8607868-CTG-ATC CPZ c.862_864delCTGinsATC p.L288I Missense 5/11 -
16-67645121-C-T CTCF c.386C>T p.T129I Missense 3/12 -
12-69652436-C-A CPSF6 c.761C>A p.P254H Missense 6/10 -
19-50203966-GGG-AGC CPT1C c.307_309delGGGinsAGC p.G103S Missense 5/20 -
12-69644924-GGG-AGC CPSF6 c.76_78delGGGinsAGC p.G26S Missense 2/10 -
2-163002113-T-C GCG c.329A>G p.Y110C Missense 4/6 -
9-111755031-T-G CTNNAL1 c.400A>C p.I134L Missense 3/19 -
8-141569610-T-C AGO2 c.674A>G p.Y225C Missense 6/19 -
6-43184230-T-C CUL9 c.6271T>C p.Y2091H Missense 31/41 -
2-163003871-C-G GCG c.246G>C p.K82N Missense 3/6 -
6-49665594-T-C CRISP2 c.494A>G p.Y165C Missense 8/10 -
6-49665597-T-C CRISP2 c.491A>G p.Y164C Missense 8/10 -
22-37334059-C-A CSF2RB c.2209C>A p.P737T Missense 14/14 -
11-68529017-G-T CPT1A c.2014C>A p.P672T Missense 16/19 -
1-40776396-G-A COL9A2 c.674C>T p.P225L Missense 13/32 -
15-75969142-G-A CSPG4 c.5718C>T p.F1906= Synonymous 10/10 -
10-93999839-G-A CPEB3 c.269C>T p.P90L Missense 2/10 -
3-41279556-A-G CTNNB1 c.2126A>G p.Y709C Missense 14/15 -
11-68529100-T-C CPT1A c.1931A>G p.Y644C Missense 16/19 -
1-197390484-A-C CRB1 c.1526A>C p.N509T Missense 6/12 -
8-113529419-G-T CSMD3 c.4600C>A p.P1534T Missense 28/71 -
3-41267276-A-C CTNNB1 c.860A>C p.N287T Missense 6/15 -
18-19996012-A-G CTAGE1 c.1763T>C p.L588P Missense 1/1 -
15-75982381-A-G CSPG4 c.1025T>C p.L342P Missense 3/10 -
22-37333582-C-T CSF2RB c.1732C>T p.H578Y Missense 14/14 -
9-111745588-A-G CTNNAL1 c.737T>C p.L246P Missense 6/19 -
17-8132473-G-C CTC1 c.3208C>G p.Q1070E Missense 20/23 -
18-77488959-C-G CTDP1 c.2470C>G p.Q824E Missense 11/13 -
2-225339087-G-C CUL3 c.2182C>G p.Q728E Missense 16/16 -
17-28769352-C-G CPD c.2257C>G p.Q753E Missense 10/21 -
1-150727538-C-A CTSS c.338G>T p.R113L Missense 4/8 -
1-197404576-G-C CRB1 c.3583G>C p.V1195L Missense 9/12 -
10-76995095-C-G COMTD1 c.258G>C p.M86I Missense 3/7 -
10-76995095-C-T COMTD1 c.258G>A p.M86I Missense 3/7 -
10-76995095-C-A COMTD1 c.258G>T p.M86I Missense 3/7 -
4-8605835-C-T CPZ c.629C>T p.T210I Missense 4/11 -
6-43153841-T-C CUL9 c.899T>C p.L300P Missense 4/41 -
1-40769608-C-T COL9A2 c.1360G>A p.G454S Missense 26/32 -
11-65780329-G-C CST6 c.273G>C p.M91I Missense 2/3 -
11-65780329-G-A CST6 c.273G>A p.M91I Missense 2/3 -
11-65780329-G-T CST6 c.273G>T p.M91I Missense 2/3 -
19-4159665-G-C CREB3L3 c.462G>C p.M154I Missense 4/10 -
19-4159665-G-A CREB3L3 c.462G>A p.M154I Missense 4/10 -
19-4159665-G-T CREB3L3 c.462G>T p.M154I Missense 4/10 -
X-70324248-A-G CXorf65 c.326T>C p.L109P Missense 5/6 -
1-40775836-C-T COL9A2 c.739G>A p.G247S Missense 15/32 -
1-85031637-G-A CTBS c.584C>T p.T195I Missense 4/7 -
4-47809012-GC-AT CORIN c.115_116delGCinsAT p.A39M Missense 2/22 -
18-19997718-AGC-CAT CTAGE1 c.55_57delGCTinsATG p.A19M Missense 1/1 -
9-111775684-GGC-CCA CTNNAL1 c.37_39delGCCinsTGG p.A13W Missense 1/19 -
10-76995090-CA-GC COMTD1 c.262_263delTGinsGC p.C88A Missense 3/7 -
15-79215378-A-T CTSH c.889T>A p.W297R Missense 11/12 -
15-79215378-A-G CTSH c.889T>C p.W297R Missense 11/12 -
X-77158164-CA-AC COX7B c.65_66delCAinsAC p.A22D Missense 2/3 -
9-100899958-C-T CORO2A c.214G>A p.D72N Missense 3/12 -
19-4154929-GA-TT CREB3L3 c.61_62delGAinsTT p.D21F Missense 2/10 -
18-19996688-C-T CTAGE1 c.1087G>A p.E363K Missense 1/1 -
19-50195584-C-A CPT1C c.75C>A p.A25= Synonymous 3/20 -
19-50195584-C-G CPT1C c.75C>G p.A25= Synonymous 3/20 -
19-50195584-C-T CPT1C c.75C>T p.A25= Synonymous 3/20 -
1-153924053-G-A CRTC2 c.1087C>T p.L363F Missense 11/14 -
15-79237296-C-A CTSH c.28G>T p.A10S Missense 1/12 -
12-56662987-G-C COQ10A c.426G>C p.M142I Missense 3/5 -
12-56662987-G-A COQ10A c.426G>A p.M142I Missense 3/5 -
12-56662987-G-T COQ10A c.426G>T p.M142I Missense 3/5 -
7-117451000-AA-TC CTTNBP2 c.232_233delTTinsGA p.F78D Missense 3/23 -
1-40776791-C-T COL9A2 c.604G>A p.G202S Missense 12/32 -
2-9572796-G-C CPSF3 c.498G>C p.M166I Missense 5/18 -
2-9572796-G-A CPSF3 c.498G>A p.M166I Missense 5/18 -
2-9572796-G-T CPSF3 c.498G>T p.M166I Missense 5/18 -
4-166300446-GC-AT CPE c.73_74delGCinsAT p.A25I Missense 1/9 -
8-4851876-C-T CSMD1 c.63G>A p.A21= Synonymous 1/70 -
8-4851876-C-G CSMD1 c.63G>C p.A21= Synonymous 1/70 -
8-4851876-C-A CSMD1 c.63G>T p.A21= Synonymous 1/70 -
X-120009456-TGC-CAT CT47B1 c.67_69delGCAinsATG p.A23M Missense 1/3 -
X-120009457-GC-TT CT47B1 c.67_68delGCinsAA p.A23K Missense 1/3 -
18-29172922-GCC-AAG TTR c.133_135delGCCinsAAG p.A45K Missense 2/4 -
18-19996841-C-T CTAGE1 c.934G>A p.E312K Missense 1/1 -
2-163003943-G-A GCG c.174C>T p.F58= Synonymous 3/6 -
1-40776392-TCC-GCT COL9A2 c.676_678delGGAinsAGC p.G226S Missense 13/32 -
1-153930859-C-G CRTC2 c.115G>C p.A39P Missense 1/14 -
17-28706596-G-A CPD c.598G>A p.G200S Missense 1/21 -
1-153930858-GC-TT CRTC2 c.115_116delGCinsAA p.A39N Missense 1/14 -
15-76005060-C-T CSPG4 c.37G>A p.G13S Missense 1/10 -
5-10981928-C-T CTNND2 c.3374G>A p.R1125K Missense 21/22 -
7-101839938-A-G CUX1 c.1247A>G p.D416G Missense 15/24 -
X-70324173-A-T CXorf65 c.401T>A p.I134K Missense 5/6 -
4-47655663-G-A CORIN c.1750C>T p.H584Y Missense 13/22 -
12-56664037-C-T COQ10A c.680C>T p.T227I Missense 5/5 -
6-43173160-C-A CUL9 c.4792C>A p.Q1598K Missense 24/41 -
14-45656993-T-C FANCM c.4682T>C p.M1561T Missense 19/23 -
19-13041137-C-T FARSA c.403G>A p.E135K Missense 4/13 -
17-80043235-A-T FASN c.4166T>A p.V1389E Missense 24/43 -
7-150775088-C-A FASTK c.917G>T p.R306L Missense 5/10 -
5-7868025-G-A FASTKD3 c.172C>T p.H58Y Missense 2/7 -
22-45972977-G-A FBLN1 c.1961G>A p.G654D Missense 16/17 -
22-45970525-G-A FBLN1 c.1832G>A p.R611H Missense 15/17 -
15-48802244-C-T FBN1 c.1711G>A p.E571K Missense 14/66 -
15-48826312-C-T FBN1 c.827G>A p.G276E Missense 8/66 -
15-48788300-C-T FBN1 c.2416G>A p.E806K Missense 20/66 -
5-127637170-C-T FBN2 c.5950G>A p.V1984M Missense 47/65 -
19-8146248-A-G FBN3 c.7330T>C p.C2444R Missense 58/64 -
17-37431233-G-A FBXL20 c.817C>T p.P273S Missense 10/15 -
4-15629584-T-C FBXL5 c.965A>G p.H322R Missense 7/11 -
9-37537754-C-T FBXO10 c.772G>A p.V258I Missense 3/11 -
2-48040983-C-G FBXO11 c.2030G>C p.R677T Missense 17/23 -
2-48066119-G-A FBXO11 c.466C>T p.Q156* Nonsense 4/23 -
1-16577866-G-C FBXO42 c.1453C>G p.R485G Missense 10/10 -
1-16583198-C-T FBXO42 c.559G>A p.V187M Missense 5/10 -
17-37101328-A-C FBXO47 c.678T>G p.H226Q Missense 7/11 -
19-7754305-G-A FCER2 c.740C>T p.P247L Missense 11/11 -
14-75190043-C-G FCF1 c.361C>G p.L121V Missense 5/8 -
19-40433640-G-A FCGBP c.629C>T p.S210L Missense 2/36 -
19-50017183-C-G FCGRT c.118C>G p.P40A Missense 3/7 -
9-137779025-A-G FCN2 c.706A>G p.T236A Missense 8/8 -
1-157739926-G-A FCRL2 c.325C>T p.P109S Missense 4/12 -
1-157718364-T-C FCRL2 c.1438A>G p.M480V Missense 10/12 -
1-157504590-C-A FCRL5 c.1495G>T p.G499C Missense 8/17 -
18-55247321-C-T FECH c.178G>A p.V60I Missense 2/11 -
8-124992869-G-T FER1L6 c.1228G>T p.A410S Missense 11/41 -
20-6065760-C-G FERMT1 c.1546G>C p.E516Q Missense 12/15 -
3-186370224-A-G FETUB c.953A>G p.K318R Missense 7/7 -
X-54492189-C-A FGD1 c.1437G>T p.E479D Missense 7/18 -
6-36995226-G-C FGD2 c.1627G>C p.D543H Missense 15/16 -
6-36983609-G-C FGD2 c.1095G>C p.R365S Missense 9/16 -
9-95797678-C-T FGD3 c.1985C>T p.P662L Missense 18/18 -
X-54475285-G-A FGD1 c.2390C>T p.P797L Missense 16/18 -
4-81188003-C-T FGF5 c.25C>T p.L9F Missense 1/3 -
16-67267582-G-A FHOD1 c.2024C>T p.A675V Missense 13/22 -
15-49776583-G-A FGF7 c.467G>A p.W156* Nonsense 4/4 -
10-123279544-C-G FGFR2 c.888G>C p.K296N Missense 7/18 -
1-241665851-C-A FH c.1128G>T p.Q376H Missense 8/10 -
1-38463709-G-C FHL3 c.427C>G p.P143A Missense 4/6 -
14-76045318-G-C FLVCR2 c.3G>C p.M1? Missense 1/10 -
16-67264231-G-A FHOD1 c.3037C>T p.R1013C Missense 19/22 -
X-15365368-T-G VEGFD c.856A>C p.K286Q Missense 6/7 -
6-76024797-C-T FILIP1 c.751G>A p.V251M Missense 5/6 -
2-179341923-C-G FKBP7 c.239G>C p.G80A Missense 2/4 -
6-32096729-G-C FKBPL c.829C>G p.R277G Missense 2/2 -
19-47259967-C-G FKRP c.1260C>G p.F420L Missense 4/4 -
1-152285714-T-C FLG c.1648A>G p.T550A Missense 3/3 -
1-152325779-C-T FLG2 c.4483G>A p.G1495R Missense 3/3 -
1-152325310-G-T FLG2 c.4952C>A p.S1651Y Missense 3/3 -
1-152329145-C-T FLG2 c.1117G>A p.G373S Missense 3/3 -
17-18150552-C-G FLII c.2607G>C p.K869N Missense 21/30 -
17-18149316-C-T FLII c.3328G>A p.D1110N Missense 26/30 -
19-47258820-G-C FKRP c.113G>C p.G38A Missense 4/4 -
X-153590835-G-A FLNA c.2516C>T p.T839M Missense 17/48 -
7-128494189-G-A FLNC c.6646G>A p.D2216N Missense 40/48 -
7-128470999-C-G FLNC c.308C>G p.A103G Missense 1/48 -
7-128478773-G-A FLNC c.1327G>A p.A443T Missense 8/48 -
6-30707994-C-T FLOT1 c.664G>A p.A222T Missense 8/13 -
14-86089600-G-A FLRT2 c.1742G>A p.R581Q Missense 2/2 -
19-49979779-C-T FLT3LG c.298C>T p.R100C Missense 5/9 -
5-180048157-C-T FLT4 c.2116G>A p.A706T Missense 14/30 -
17-43318854-G-A FMNL1 c.1438G>A p.V480M Missense 14/27 -
12-50050234-G-A FMNL3 c.838C>T p.R280* Nonsense 9/26 -
1-171079976-G-A FMO3 c.665G>A p.S222N Missense 6/9 -
X-147026458-C-T FMR1 c.1541C>T p.S514L Missense 15/17 -
2-216285470-C-G FN1 c.1601G>C p.R534P Missense 11/46 -
11-47744665-G-A FNBP4 c.2668C>T p.P890S Missense 15/17 -
13-49765500-C-A FNDC3A c.2206C>A p.R736S Missense 19/26 -
6-76024398-G-T FILIP1 c.1150C>A p.R384= Synonymous 5/6 -
6-76024396-T-G FILIP1 c.1152A>C p.R384= Synonymous 5/6 -
6-76024396-T-C FILIP1 c.1152A>G p.R384= Synonymous 5/6 -
6-76024396-T-A FILIP1 c.1152A>T p.R384= Synonymous 5/6 -
6-76022780-G-A FILIP1 c.2768C>T p.A923V Missense 5/6 -
22-45972975-C-T FBLN1 c.1959C>T p.D653= Synonymous 16/17 -
4-187630488-CT-AG FAT1 c.493_494delAGinsCT p.R165L Missense 2/27 -
7-150774431-G-T FASTK c.1257C>A p.R419= Synonymous 7/10 -
7-150774431-G-C FASTK c.1257C>G p.R419= Synonymous 7/10 -
7-150774431-G-A FASTK c.1257C>T p.R419= Synonymous 7/10 -
19-8196581-A-T FBN3 c.1847T>A p.V616E Missense 15/64 -
2-179343158-AGC-CAT FKBP7 c.67_69delGCTinsATG p.A23M Missense 1/4 -
8-16850682-C-T FGF20 c.535G>A p.A179T Missense 3/3 -
19-8196580-C-T FBN3 c.1848G>A p.V616= Synonymous 15/64 -
19-8196580-C-G FBN3 c.1848G>C p.V616= Synonymous 15/64 -
19-8196580-C-A FBN3 c.1848G>T p.V616= Synonymous 15/64 -
19-8206630-C-A FBN3 c.836G>T p.R279L Missense 8/64 -
17-37427090-A-G FBXL20 c.847T>C p.C283R Missense 11/15 -
22-45972975-C-G FBLN1 c.1959C>G p.D653E Missense 16/17 -
22-45972975-C-A FBLN1 c.1959C>A p.D653E Missense 16/17 -
6-76124658-C-T FILIP1 c.31G>A p.A11T Missense 2/6 -
17-43321268-T-C FMNL1 c.2324T>C p.M775T Missense 18/27 -
6-30709634-TCG-ACA FLOT1 c.52_54delCGAinsTGT p.R18C Missense 3/13 -
3-33425491-A-G FBXL2 c.962A>G p.H321R Missense 14/15 -
2-179343158-AGC-CTT FKBP7 c.67_69delGCTinsAAG p.A23K Missense 1/4 -
8-124989700-A-G FER1L6 c.914A>G p.H305R Missense 10/41 -
6-76024706-T-C FILIP1 c.842A>G p.K281R Missense 5/6 -
X-153599420-GC-AA FLNA c.193_194delGCinsTT p.A65F Missense 2/48 -
5-180048156-G-T FLT4 c.2117C>A p.A706E Missense 14/30 -
19-8191448-G-A FBN3 c.2458C>T p.R820C Missense 20/64 -
9-37537802-C-T FBXO10 c.724G>A p.V242I Missense 3/11 -
19-49979429-GTC-ATG FLT3LG c.172_174delGTCinsATG p.V58M Missense 4/9 -
1-152325313-C-A FLG2 c.4949G>T p.R1650I Missense 3/3 -
14-45633757-CG-AC FANCM c.1777_1778delCGinsAC p.R593T Missense 10/23 -
17-37431339-T-G FBXL20 c.711A>C p.E237D Missense 10/15 -
17-37431339-T-A FBXL20 c.711A>T p.E237D Missense 10/15 -
17-80051626-CG-GT FASN c.301_302delCGinsAC p.R101T Missense 4/43 -
19-47259392-CGC-TGA FKRP c.685_687delCGCinsTGA p.R229* Nonsense 4/4 -
5-7866767-CG-GT FASTKD3 c.1429_1430delCGinsAC p.R477T Missense 2/7 -
20-6088235-C-G FERMT1 c.793G>C p.D265H Missense 6/15 -
1-152286974-T-A FLG c.388A>T p.R130* Nonsense 3/3 -
1-157739740-C-G FCRL2 c.511G>C p.D171H Missense 4/12 -
1-38463709-G-A FHL3 c.427C>T p.P143S Missense 4/6 -
22-45921451-C-T FBLN1 c.214C>T p.Q72* Nonsense 3/17 -
1-38463439-GA-TT FHL3 c.604_605delTCinsAA p.S202N Missense 5/6 -
6-36995224-C-T FGD2 c.1625C>T p.P542L Missense 15/16 -
1-171076969-TC-AA FMO3 c.475_476delTCinsAA p.S159N Missense 4/9 -
16-30134428-G-C MAPK3 c.103C>G p.P35A Missense 1/9 -
19-13035474-G-C FARSA c.1174C>G p.R392G Missense 10/13 -
X-54521605-CCG-GCT FGD1 c.259_261delCGGinsAGC p.R87S Missense 1/18 -
20-6065834-G-A FERMT1 c.1472C>T p.S491L Missense 12/15 -
1-171086461-C-T FMO3 c.1478C>T p.S493L Missense 9/9 -
14-97022728-C-T PAPOLA c.1982C>T p.P661L Missense 19/22 -
14-97003342-AG-CT PAPOLA c.1060_1061delAGinsCT p.S354L Missense 12/22 -
20-6096661-A-G FERMT1 c.182T>C p.L61P Missense 3/15 -
1-241682990-CGA-GAT FH c.31_33delTCGinsATC p.S11I Missense 1/10 -
4-15638295-T-G FBXL5 c.588A>C p.A196= Synonymous 5/11 -
4-15638295-T-C FBXL5 c.588A>G p.A196= Synonymous 5/11 -
4-15638295-T-A FBXL5 c.588A>T p.A196= Synonymous 5/11 -
19-13039203-G-A FARSA c.794C>T p.P265L Missense 7/13 -
5-180057256-GA-AG FLT4 c.481_482delTCinsCT p.S161L Missense 4/30 -
8-125029901-G-C FER1L6 c.1956G>C p.K652N Missense 16/41 -
8-125029901-G-T FER1L6 c.1956G>T p.K652N Missense 16/41 -
2-48060187-T-G FBXO11 c.957A>C p.K319N Missense 8/23 -
2-48060187-T-A FBXO11 c.957A>T p.K319N Missense 8/23 -
1-241671972-T-G FH c.669A>C p.K223N Missense 5/10 -
1-241671972-T-A FH c.669A>T p.K223N Missense 5/10 -
2-48066825-G-C FBXO11 c.316C>G p.L106V Missense 2/23 -
1-241682960-G-T FH c.63C>A p.A21= Synonymous 1/10 -
1-241682960-G-C FH c.63C>G p.A21= Synonymous 1/10 -
1-241682960-G-A FH c.63C>T p.A21= Synonymous 1/10 -
2-163099456-GC-AA FAP c.52_53delGCinsTT p.A18F Missense 2/26 -
2-48060199-T-G FBXO11 c.945A>C p.K315N Missense 8/23 -
2-48060199-T-A FBXO11 c.945A>T p.K315N Missense 8/23 -
20-42935823-GG-CT FITM2 c.230_231delCCinsAG p.A77E Missense 2/2 -
14-97031369-A-C PAPOLA c.2220A>C p.K740N Missense 22/22 -
14-97031369-A-T PAPOLA c.2220A>T p.K740N Missense 22/22 -
22-45898938-GC-CG FBLN1 c.73_74delGCinsCG p.A25R Missense 1/17 -
19-40421407-C-G FCGBP c.2514G>C p.K838N Missense 5/36 -
19-40421407-C-A FCGBP c.2514G>T p.K838N Missense 5/36 -
1-241682973-G-A FH c.50C>T p.A17V Missense 1/10 -
1-16582269-T-C FBXO42 c.704A>G p.H235R Missense 6/10 -
19-50017693-A-G FCGRT c.551A>G p.H184R Missense 4/7 -
19-40434105-A-G FCGBP c.164T>C p.L55P Missense 2/36 -
14-45644399-A-C FANCM c.2442A>C p.K814N Missense 14/23 -
14-45644399-A-T FANCM c.2442A>T p.K814N Missense 14/23 -
4-81207640-A-C FGF5 c.621A>C p.K207N Missense 3/3 -
4-81207640-A-T FGF5 c.621A>T p.K207N Missense 3/3 -
15-48936892-C-T FBN1 c.75G>A p.A25= Synonymous 2/66 -
15-48936892-C-G FBN1 c.75G>C p.A25= Synonymous 2/66 -
15-48936892-C-A FBN1 c.75G>T p.A25= Synonymous 2/66 -
14-45644561-A-C FANCM c.2604A>C p.K868N Missense 14/23 -
14-45644561-A-T FANCM c.2604A>T p.K868N Missense 14/23 -
1-241682966-GGC-CAT FH c.55_57delGCCinsATG p.A19M Missense 1/10 -
4-15656873-GC-AG FBXL5 c.37_38delGCinsCT p.A13L Missense 1/11 -
15-49776659-A-C FGF7 c.543A>C p.K181N Missense 4/4 -
15-49776659-A-T FGF7 c.543A>T p.K181N Missense 4/4 -
6-36973621-G-T FGD2 c.28G>T p.A10S Missense 1/16 -
4-55161404-G-A PDGFRA c.3235G>A p.D1079N Missense 23/23 -
19-8212300-G-T FBN3 c.65C>A p.A22D Missense 2/64 -
7-128485066-G-A FLNC c.3547G>A p.A1183T Missense 21/48 -
4-15656874-C-T FBXL5 c.37G>A p.A13T Missense 1/11 -
19-7762426-CGC-AAA FCER2 c.238_240delGCGinsTTT p.A80F Missense 5/11 -
8-124988175-C-T FER1L6 c.721C>T p.P241S Missense 9/41 -
19-40433027-TCC-ACA FCGBP c.1240_1242delGGAinsTGT p.G414C Missense 2/36 -
19-13041553-G-T FARSA c.158C>A p.A53D Missense 2/13 -
19-50027910-G-T FCGRT c.748G>T p.G250C Missense 5/7 -
3-186358458-CC-AG FETUB c.209_210delCCinsAG p.A70E Missense 1/7 -
14-96997836-G-A PAPOLA c.520G>A p.A174T Missense 7/22 -
9-95773541-C-T FGD3 c.1022C>T p.A341V Missense 8/18 -
1-241682948-AGC-CTT FH c.73_75delGCTinsAAG p.A25K Missense 1/10 -
20-6088253-C-G FERMT1 c.775G>C p.E259Q Missense 6/15 -
2-48132849-A-G FBXO11 c.11T>C p.V4A Missense 1/23 -
8-125061900-C-T FER1L6 c.2777C>T p.A926V Missense 22/41 -
5-127668703-C-T FBN2 c.4123G>A p.A1375T Missense 32/65 -
1-241683020-C-G FH c.3G>C p.M1? Missense 1/10 -
17-43311512-G-A FMNL1 c.559G>A p.D187N Missense 6/27 -
1-152285325-T-A FLG c.2037A>T p.K679N Missense 3/3 -
X-153591043-G-A FLNA c.2390C>T p.A797V Missense 16/48 -
17-46148811-C-G CBX1 c.544G>C p.D182H Missense 5/5 -
17-46152441-C-T CBX1 c.340G>A p.A114T Missense 4/5 -
2-219890815-G-A CFAP65 c.2278C>T p.R760W Missense 14/35 -
2-219894238-T-C CFAP65 c.1537A>G p.R513G Missense 11/35 -
7-92970798-G-T VPS50 c.2118G>T p.V706= Synonymous 23/28 -
7-92869233-C-T VPS50 c.88C>T p.R30W Missense 2/28 -
7-128445518-G-T CCDC136 c.888G>T p.M296I Missense 6/18 -
6-151914317-C-T CCDC170 c.1369C>T p.R457W Missense 8/11 -
1-159863058-G-A CFAP45 c.41C>T p.A14V Missense 2/12 -
1-3677920-G-A CCDC27 c.787G>A p.E263K Missense 5/12 -
12-96310945-A-C CCDC38 c.266T>G p.F89C Missense 4/16 -
3-180381735-C-T CCDC39 c.130G>A p.E44K Missense 2/20 -
3-180381672-C-G CCDC39 c.193G>C p.E65Q Missense 2/20 -
17-78073390-G-A CCDC40 c.3245G>A p.R1082H Missense 20/20 -
7-31614171-A-G ITPRID1 c.443A>G p.E138G Missense 8/15 -
17-8647917-C-T CCDC42 c.11G>A p.G4D Missense 1/7 -
10-61666113-G-A CCDC6 c.70C>T p.Q24* Nonsense 1/9 -
12-123276650-G-T CCDC62 c.754G>T p.D252Y Missense 6/13 -
3-56597934-A-G CCDC66 c.325A>G p.K109E Missense 4/18 -
11-93088558-G-C DEUP1 c.51G>C p.E17D Missense 3/14 -
20-44750482-A-C CD40 c.75A>C p.A25= Synonymous 2/9 -
11-93103317-C-T DEUP1 c.511C>T p.Q171* Nonsense 6/14 -
3-112357200-G-T CCDC80 c.1553C>A p.S518Y Missense 2/8 -
11-85396623-T-C CCDC89 c.551A>G p.E184G Missense 1/1 -
4-7043726-G-A CCDC96 c.940C>T p.R314W Missense 1/1 -
17-34340319-C-T CCL23 c.332G>A p.C111Y Missense 4/4 -
7-75441263-G-C CCL24 c.211C>G p.Q71E Missense 3/3 -
3-112358736-C-T CCDC80 c.17G>A p.G6E Missense 2/8 -
10-97817702-C-T CCNJ c.856C>T p.Q286* Nonsense 6/6 -
12-49087741-G-T CCNT1 c.1256C>A p.A419E Missense 9/9 -
12-49087252-C-A CCNT1 c.1745G>T p.G582V Missense 9/9 -
3-56592876-A-C CCDC66 c.14A>C p.D5A Missense 2/18 -
4-139966572-C-G NOCT c.1240C>G p.H414D Missense 3/3 -
12-69985902-T-G CCT2 c.713T>G p.L238R Missense 8/16 -
6-74528131-G-A CD109 c.3932G>A p.S1311N Missense 31/33 -
12-7649609-G-A CD163 c.899C>T p.A300V Missense 5/17 -
12-7640177-A-G CD163 c.1828T>C p.S610P Missense 8/17 -
12-7651554-C-T CD163 c.688G>A p.G230R Missense 4/17 -
12-7640590-G-A CD163 c.1514C>T p.S505L Missense 7/17 -
2-71058862-T-C CD207 c.806A>G p.D269G Missense 5/6 -
19-7810588-C-G CD209 c.564G>C p.K188N Missense 4/7 -
11-66082772-C-A CD248 c.1727G>T p.R576I Missense 1/1 -
2-204594418-T-C CD28 c.457T>C p.F153L Missense 3/4 -
19-7810542-C-T CD209 c.610G>A p.G204S Missense 4/7 -
4-15780234-G-A CD38 c.197G>A p.R66Q Missense 1/8 -
4-15841656-G-T CD38 c.667G>T p.G223W Missense 6/8 -
11-118209888-G-A CD3D c.505C>T p.R169W Missense 5/5 -
12-6927643-G-A CD4