| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 1-55525400-G-A | PCSK9 | c.1681+64G>A | - | IntronicSNV | - | 10/11 |
| 12-81798657-G-A | PPFIA2 | c.762+909C>T | - | IntronicSNV | - | 7/30 |
| 4-185350738-T-C | IRF2 | c.1-520A>G | - | IntronicSNV | - | 1/8 |
| 12-6084191-G-T | VWF | c.7437+1086C>A | - | IntronicSNV | - | 43/51 |
| 9-119766969-C-T | ASTN2 | c.1438+3402G>A | - | IntronicSNV | - | 6/21 |
| 9-119766969-C-A | ASTN2 | c.1438+3402G>T | - | IntronicSNV | - | 6/21 |
| 4-187191787-G-A | F11 | c.56-976G>A | - | IntronicSNV | - | 2/14 |
| 10-90585347-A-T | ANKRD22 | c.399+448T>A | - | IntronicSNV | - | 4/5 |
| 10-90585347-A-G | ANKRD22 | c.399+448T>C | - | IntronicSNV | - | 4/5 |
| 12-72719792-A-C | TRHDE | c.1053+39058A>C | - | IntronicSNV | - | 2/18 |
| 21-41524631-T-C | DSCAM | c.3019-7973A>G | - | IntronicSNV | - | 16/32 |
| 1-216796762-G-A | ESRRG | c.520+27553C>T | - | IntronicSNV | - | 4/7 |
| 1-216796762-G-T | ESRRG | c.520+27553C>A | - | IntronicSNV | - | 4/7 |
| 7-29512086-C-T | CHN2 | c.577-7809C>T | - | IntronicSNV | - | 6/12 |
| 20-36989096-G-A | LBP | c.589-262G>A | - | IntronicSNV | - | 5/14 |
| 1-214589914-A-T | PTPN14 | c.345-1845T>A | - | IntronicSNV | - | 3/18 |
| 11-122634267-T-C | UBASH3B | c.162-12660T>C | - | IntronicSNV | - | 1/13 |
| 1-49330804-C-A | AGBL4 | c.634+2059G>T | - | IntronicSNV | - | 6/13 |
| 10-54031443-T-A | PRKG1 | c.1268+194T>A | - | IntronicSNV | - | 11/17 |
| 8-3513337-T-A | CSMD1 | c.1010-39018A>T | - | IntronicSNV | - | 7/69 |
| 12-128913904-G-A | TMEM132C | c.974+13739G>A | - | IntronicSNV | - | 2/8 |
| 3-153876826-A-T | ARHGEF26 | c.1487+6105A>T | - | IntronicSNV | - | 6/14 |
| 8-72195318-A-G | EYA1 | c.827-11186T>C | - | IntronicSNV | - | 9/17 |
| 8-72195318-A-T | EYA1 | c.827-11186T>A | - | IntronicSNV | - | 9/17 |
| 7-28848524-G-A | CREB5 | c.1006-280G>A | - | IntronicSNV | - | 8/10 |
| 8-3513337-T-C | CSMD1 | c.1010-39018A>G | - | IntronicSNV | - | 7/69 |
| 22-37408135-T-C | TST | c.596-769A>G | - | IntronicSNV | - | 2/2 |
| 3-37969439-T-C | CTDSPL | c.80-19109T>C | - | IntronicSNV | - | 1/6 |
| 5-107313403-A-C | FBXL17 | c.1822+43223T>G | - | IntronicSNV | - | 7/8 |
| 8-4213293-A-T | CSMD1 | c.415+64182T>A | - | IntronicSNV | - | 3/69 |
| 8-4213293-A-C | CSMD1 | c.415+64182T>G | - | IntronicSNV | - | 3/69 |
| 8-4213293-A-G | CSMD1 | c.415+64182T>C | - | IntronicSNV | - | 3/69 |
| 14-57052897-G-A | TMEM260 | c.344+267G>A | - | IntronicSNV | - | 3/15 |
| 5-107313403-A-G | FBXL17 | c.1822+43223T>C | - | IntronicSNV | - | 7/8 |
| 1-28220484-C-A | RPA2 | c.728+39G>T | - | IntronicSNV | - | 8/8 |
| 4-147787745-T-C | TTC29 | c.885+905A>G | - | IntronicSNV | - | 8/12 |
| 11-122605909-A-G | UBASH3B | c.162-41018A>G | - | IntronicSNV | - | 1/13 |
| 15-101555292-C-T | LRRK1 | c.1533-239C>T | - | IntronicSNV | - | 11/33 |
| 9-133671066-C-T | ABL1 | c.137-58385C>T | - | IntronicSNV | - | 1/10 |
| 3-16408457-C-T | RFTN1 | c.1030+3126G>A | - | IntronicSNV | - | 6/9 |
| 2-207953889-T-C | KLF7 | c.734-584A>G | - | IntronicSNV | - | 2/3 |
| 15-27185306-C-T | GABRA5 | c.877+82C>T | - | IntronicSNV | - | 9/10 |
| 2-149990087-C-T | LYPD6B | c.5+2620C>T | - | IntronicSNV | - | 2/6 |
| 2-215632192-G-A | BARD1 | c.1568+14C>T | - | IntronicSNV | - | 6/10 |
| 1-20140581-C-T | RNF186 | c.*330G>A | - | 3-UTRSNV | 1/1 | - |
| 8-4813349-G-T | CSMD1 | c.85+38505C>A | - | IntronicSNV | - | 1/69 |
| 2-149990087-C-G | LYPD6B | c.5+2620C>G | - | IntronicSNV | - | 2/6 |
| 14-33228298-A-G | AKAP6 | c.3373-14586A>G | - | IntronicSNV | - | 11/13 |
| 14-33228298-A-T | AKAP6 | c.3373-14586A>T | - | IntronicSNV | - | 11/13 |
| 1-214589914-A-G | PTPN14 | c.345-1845T>C | - | IntronicSNV | - | 3/18 |
| 11-20669971-T-G | SLC6A5 | c.2070+1491T>G | - | IntronicSNV | - | 14/15 |
| 15-89706770-A-C | ABHD2 | c.538+8005A>C | - | IntronicSNV | - | 9/14 |
| 7-154652279-C-T | DPP6 | c.1714+6742C>T | - | intron_variant | - | 17/25 |
| 5-167449057-T-A | TENM2 | c.1187-25375T>A | - | IntronicSNV | - | 6/29 |
| 13-109478592-A-G | MYO16 | c.1031+2966A>G | - | IntronicSNV | - | 9/34 |
| 8-17181772-T-C | MTMR7 | c.865+6887A>G | - | IntronicSNV | - | 7/13 |
| 8-17181772-T-G | MTMR7 | c.865+6887A>C | - | IntronicSNV | - | 7/13 |
| 8-17229752-C-A | MTMR7 | c.147+875G>T | - | IntronicSNV | - | 2/13 |
| 6-12117555-G-A | HIVEP1 | c.95-2568G>A | - | IntronicSNV | - | 3/8 |
| 18-57138957-T-C | CCBE1 | c.266-2118A>G | - | IntronicSNV | - | 3/10 |
| 6-169022053-C-G | SMOC2 | c.907+13134C>G | - | IntronicSNV | - | 9/12 |
| 6-169022053-C-T | SMOC2 | c.907+13134C>T | - | IntronicSNV | - | 9/12 |
| 3-41485477-T-C | ULK4 | c.3492+11511A>G | - | IntronicSNV | - | 34/36 |
| 9-101829542-G-A | COL15A1 | c.3837+193G>A | - | IntronicSNV | - | 40/41 |
| 6-169031488-C-T | SMOC2 | c.908-19873C>T | - | IntronicSNV | - | 9/12 |
| 3-41485477-T-A | ULK4 | c.3492+11511A>T | - | IntronicSNV | - | 34/36 |
| 7-154652279-C-G | DPP6 | c.1714+6742C>G | - | intron_variant | - | 17/25 |
| 10-54031443-T-C | PRKG1 | c.1268+194T>C | - | IntronicSNV | - | 11/17 |
| 10-69114388-G-A | CTNNA3 | c.580-134760C>T | - | IntronicSNV | - | 5/17 |
| 12-3349894-T-G | TSPAN9 | c.64-37693T>G | - | IntronicSNV | - | 3/8 |
| 12-125590417-T-C | AACS | c.768-1250T>C | - | IntronicSNV | - | 7/17 |
| 12-94614302-G-T | PLXNC1 | c.1702+363G>T | - | IntronicSNV | - | 6/30 |
| 12-72719792-A-T | TRHDE | c.1053+39058A>T | - | IntronicSNV | - | 2/18 |
| 11-92620160-A-T | FAT3 | c.12938-6A>T | - | IntronicSNV | - | 23/24 |
| 8-3937595-A-G | CSMD1 | c.416-47974T>C | - | IntronicSNV | - | 3/69 |
| 15-33958127-A-C | RYR3 | c.5619+2189A>C | - | IntronicSNV | - | 36/103 |
| 12-53039073-G-A | KRT2 | c.1650C>T | p.Gly550Gly | Synonymous | 9/9 | - |
| 4-173760563-A-C | GALNTL6 | c.923+25689A>C | - | IntronicSNV | - | 7/12 |
| 11-68855483-G-A | TPCN2 | c.*62G>A | - | 3-UTRSNV | 25/25 | - |
| 1-245557294-A-C | KIF26B | c.1000-25587A>C | - | IntronicSNV | - | 3/14 |
| 1-66039317-T-C | LEPR | c.494+1185T>C | - | IntronicSNV | - | 5/19 |
| 6-152738345-A-G | SYNE1 | c.5422-195T>C | - | IntronicSNV | - | 40/145 |
| 16-80655883-T-G | CDYL2 | c.835-1051A>C | - | IntronicSNV | - | 3/6 |
| 1-172360164-A-G | DNM3 | c.2522+2215A>G | - | IntronicSNV | - | 20/20 |
| 6-45924967-A-G | CLIC5 | c.541-1986T>C | - | IntronicSNV | - | 1/5 |
| 17-31789102-T-C | ASIC2 | c.556-350017A>G | - | IntronicSNV | - | 1/9 |
| 13-103713089-G-A | SLC10A2 | c.378-2357C>T | - | IntronicSNV | - | 1/5 |
| 16-83232212-C-T | CDH13 | c.484-18738C>T | - | IntronicSNV | - | 4/13 |
| 2-240908234-G-A | NDUFA10 | c.1000-7631C>T | - | IntronicSNV | - | 9/9 |
| 11-63070493-T-A | SLC22A10 | c.1285+478T>A | - | IntronicSNV | - | 7/9 |
| 1-162122627-A-G | NOS1AP | c.106-1568A>G | - | IntronicSNV | - | 1/9 |
| 1-162122627-A-T | NOS1AP | c.106-1568A>T | - | IntronicSNV | - | 1/9 |
| 11-88452034-G-T | GRM5 | c.912-65463C>A | - | IntronicSNV | - | 3/8 |
| 4-95558854-T-C | PDLIM5 | c.782-2573T>C | - | IntronicSNV | - | 8/12 |
| 19-52127134-C-G | SIGLEC5 | c.1464+2151G>C | - | IntronicSNV | - | 8/8 |
| 2-239348995-G-T | ASB1 | c.495-3988G>T | - | IntronicSNV | - | 3/4 |
| 19-52127134-C-T | SIGLEC5 | c.1464+2151G>A | - | IntronicSNV | - | 8/8 |
| 1-168698173-C-T | DPT | c.240G>A | p.Thr80Thr | Synonymous | 1/4 | - |
| 16-54019686-G-A | FTO | c.1364+51665G>A | - | IntronicSNV | - | 8/8 |
| 8-140963979-C-A | TRAPPC9 | c.3104+34955G>T | - | IntronicSNV | - | 19/22 |
| 3-134678040-C-T | EPHB1 | c.805+7146C>T | - | IntronicSNV | - | 3/15 |
| 8-3564181-A-C | CSMD1 | c.1009+1755T>G | - | IntronicSNV | - | 7/69 |
| 8-4185750-T-A | CSMD1 | c.415+91725A>T | - | IntronicSNV | - | 3/69 |
| 20-42654347-T-C | TOX2 | c.285+18915T>C | - | IntronicSNV | - | 3/8 |
| 9-104436643-T-C | GRIN3A | c.1305-3254A>G | - | IntronicSNV | - | 2/8 |
| 8-3564181-A-T | CSMD1 | c.1009+1755T>A | - | IntronicSNV | - | 7/69 |
| 1-174805122-T-A | RABGAP1L | c.297+24024T>A | - | IntronicSNV | - | 2/8 |
| 5-96134235-G-C | ERAP1 | c.664-1223C>G | - | IntronicSNV | - | 3/19 |
| 4-178256913-C-A | NEIL3 | c.350C>A | p.Pro117His | Missense | 3/10 | - |
| 4-178256913-C-G | NEIL3 | c.350C>G | p.Pro117Arg | Missense | 3/10 | - |
| 20-51720422-T-C | TSHZ2 | c.40+130550T>C | - | IntronicSNV | - | 1/2 |
| 5-96134235-G-A | ERAP1 | c.664-1223C>T | - | IntronicSNV | - | 3/19 |
| 21-47982652-G-A | DIP2A | c.4089+934G>A | - | IntronicSNV | - | 34/37 |
| 4-21324191-T-C | KCNIP4 | c.62-439859A>G | - | IntronicSNV | - | 1/8 |
| 6-12124855-G-A | HIVEP1 | c.4827G>A | p.Met1609Ile | Missense | 4/9 | - |
| 7-154653720-T-C | DPP6 | c.1715-5985T>C | - | intron_variant | - | 17/25 |
| 21-41645484-A-C | DSCAM | c.2356+2540T>G | - | IntronicSNV | - | 11/32 |
| 2-213317071-C-A | ERBB4 | c.82+86102G>T | - | IntronicSNV | - | 1/26 |
| 13-100374060-A-C | CLYBL | c.63-51018A>C | - | IntronicSNV | - | 1/8 |
| 2-213317071-C-T | ERBB4 | c.82+86102G>A | - | IntronicSNV | - | 1/26 |
| 12-94614302-G-A | PLXNC1 | c.1702+363G>A | - | IntronicSNV | - | 6/30 |
| 8-17238653-G-T | MTMR7 | c.25-7904C>A | - | IntronicSNV | - | 1/13 |
| 8-17238653-G-C | MTMR7 | c.25-7904C>G | - | IntronicSNV | - | 1/13 |
| 7-20407356-T-C | ITGB8 | c.388+547T>C | - | IntronicSNV | - | 3/13 |
| 7-20407356-T-A | ITGB8 | c.388+547T>A | - | IntronicSNV | - | 3/13 |
| 22-30855697-C-T | SEC14L3 | c.*311G>A | - | 3-UTRSNV | 12/12 | - |
| 15-33958127-A-G | RYR3 | c.5619+2189A>G | - | IntronicSNV | - | 36/103 |
| 9-16212179-G-C | C9orf92 | c.254+3035C>G | - | IntronicSNV | - | 3/3 |
| 21-41596300-T-C | DSCAM | c.2357-35135A>G | - | IntronicSNV | - | 11/32 |
| 6-128833290-C-T | PTPRK | c.100+8114G>A | - | IntronicSNV | - | 1/30 |
| 11-63070493-T-C | SLC22A10 | c.1285+478T>C | - | IntronicSNV | - | 7/9 |
| 14-100064674-A-G | CCDC85C | c.793+4830T>C | - | IntronicSNV | - | 1/5 |
| 6-31133894-G-A | POU5F1 | c.406-70C>T | - | IntronicSNV | - | 1/4 |
| 6-148790699-T-C | SASH1 | c.427+978T>C | - | IntronicSNV | - | 5/19 |
| 16-82936043-A-G | CDH13 | c.157+43965A>G | - | IntronicSNV | - | 2/13 |
| 4-40503270-G-A | RBM47 | c.-155+14614C>T | - | intron_variant | - | 1/4 |
| 5-7539712-A-G | ADCY2 | c.570+18700A>G | - | IntronicSNV | - | 3/24 |
| 3-111538503-G-T | PLCXD2 | c.867-26165G>T | - | IntronicSNV | - | 3/3 |
| 20-15807441-T-C | MACROD2 | c.646-35949T>C | - | IntronicSNV | - | 8/16 |
| 8-139299165-C-T | FAM135B | c.158-21080G>A | - | IntronicSNV | - | 3/19 |
| 10-122346343-T-C | PLPP4 | c.617-2472T>C | - | IntronicSNV | - | 6/6 |
| 5-78261957-A-G | ARSB | c.500-1528T>C | - | IntronicSNV | - | 2/7 |
| 7-1158144-A-T | C7orf50 | c.129+8749T>A | - | IntronicSNV | - | 2/4 |
| 18-55732192-T-C | NEDD4L | c.-316+17450T>C | - | intron_variant | - | 1/30 |
| 1-169192110-T-C | NME7 | c.990+7846A>G | - | IntronicSNV | - | 10/11 |
| 18-57176916-G-A | CCBE1 | c.213-29446C>T | - | IntronicSNV | - | 2/10 |
| 3-14499020-C-T | SLC6A6 | c.608-438C>T | - | intron_variant | - | 5/14 |
| 16-84459557-T-C | ATP2C2 | c.986+150T>C | - | IntronicSNV | - | 11/26 |
| 16-84459557-T-A | ATP2C2 | c.986+150T>A | - | IntronicSNV | - | 11/26 |
| 3-14496162-G-A | SLC6A6 | c.608-3296G>A | - | intron_variant | - | 5/14 |
| 1-214588601-G-A | PTPN14 | c.345-532C>T | - | IntronicSNV | - | 3/18 |
| 1-246005798-C-A | SMYD3 | c.899+16000G>T | - | IntronicSNV | - | 10/11 |
| 3-14496162-G-T | SLC6A6 | c.608-3296G>T | - | intron_variant | - | 5/14 |
| 8-3564197-C-A | CSMD1 | c.1009+1739G>T | - | IntronicSNV | - | 7/69 |
| 6-45879064-C-T | CLIC5 | c.1065+2901G>A | - | IntronicSNV | - | 5/5 |
| 4-185323726-G-A | IRF2 | c.530-3493C>T | - | IntronicSNV | - | 6/8 |
| 4-5427691-G-A | STK32B | c.562+9030G>A | - | IntronicSNV | - | 6/11 |
| 16-16098162-C-G | ABCC1 | c.49-3511C>G | - | IntronicSNV | - | 1/30 |
| 13-95893882-T-C | ABCC4 | c.306+5347A>G | - | IntronicSNV | - | 3/30 |
| 12-72732514-G-A | TRHDE | c.1054-39261G>A | - | IntronicSNV | - | 2/18 |
| 8-139303835-T-A | FAM135B | c.157+19249A>T | - | IntronicSNV | - | 3/19 |
| 8-139303835-T-C | FAM135B | c.157+19249A>G | - | IntronicSNV | - | 3/19 |
| 1-241046053-T-C | RGS7 | c.386-12634A>G | - | IntronicSNV | - | 6/17 |
| 10-90585138-T-C | ANKRD22 | c.399+657A>G | - | IntronicSNV | - | 4/5 |
| 12-66922606-C-T | GRIP1 | c.502+1005G>A | - | IntronicSNV | - | 5/22 |
| 22-45115579-A-G | PRR5 | c.188+5028A>G | - | IntronicSNV | - | 3/8 |
| 21-27497497-G-A | APP | c.58-13034C>T | - | IntronicSNV | - | 1/17 |
| 6-32170433-C-T | NOTCH4 | c.3232-57G>A | - | IntronicSNV | - | 20/29 |
| 14-80317460-G-A | NRXN3 | c.1079-10546G>A | - | IntronicSNV | - | 6/6 |
| 9-119795696-T-C | ASTN2 | c.1270+6402A>G | - | IntronicSNV | - | 5/21 |
| 10-74840975-A-G | P4HA1 | c.1-6334T>C | - | IntronicSNV | - | 1/14 |
| 5-16680772-C-T | MYO10 | c.4385-559G>A | - | IntronicSNV | - | 32/40 |
| 7-36583312-C-A | AOAH | c.1134-3215G>T | - | IntronicSNV | - | 15/20 |
| 8-4185750-T-G | CSMD1 | c.415+91725A>C | - | IntronicSNV | - | 3/69 |
| 20-49508683-G-A | ADNP | c.2568C>T | p.Val856Val | Synonymous | 4/4 | - |
| 3-21752050-G-C | ZNF385D | c.22+40337C>G | - | IntronicSNV | - | 1/7 |
| 3-21752050-G-A | ZNF385D | c.22+40337C>T | - | IntronicSNV | - | 1/7 |
| 7-1158144-A-G | C7orf50 | c.129+8749T>C | - | IntronicSNV | - | 2/4 |
| 8-140963979-C-T | TRAPPC9 | c.3104+34955G>A | - | IntronicSNV | - | 19/22 |
| 22-23504959-C-T | RAB36 | c.*1208C>T | - | 3-UTRSNV | 11/11 | - |
| 12-95384203-G-A | NDUFA12 | c.257+3743C>T | - | IntronicSNV | - | 3/3 |
| 3-16408778-C-T | RFTN1 | c.1030+2805G>A | - | IntronicSNV | - | 6/9 |
| 21-41137256-G-A | IGSF5 | c.101-206G>A | - | IntronicSNV | - | 2/8 |
| 3-62661513-T-C | CADPS | c.889-13444A>G | - | IntronicSNV | - | 3/29 |
| 20-49489976-C-G | BCAS4 | c.490-2558C>G | - | IntronicSNV | - | 4/5 |
| 5-7538237-T-C | ADCY2 | c.570+17225T>C | - | IntronicSNV | - | 3/24 |
| 11-40657828-A-T | LRRC4C | c.-190+11864T>A | - | intron_variant | - | 2/4 |
| 1-168665974-T-C | DPT | c.540-121A>G | - | IntronicSNV | - | 3/3 |
| 9-19751379-A-G | SLC24A2 | c.930+34556T>C | - | IntronicSNV | - | 1/9 |
| 7-104403270-T-A | LHFPL3 | c.682+25912T>A | - | IntronicSNV | - | 2/2 |
| 5-167435994-A-G | TENM2 | c.1186+15807A>G | - | IntronicSNV | - | 6/29 |
| 8-108447543-A-G | ANGPT1 | c.297+61947T>C | - | IntronicSNV | - | 1/8 |
| 8-97865490-G-A | CPQ | c.641+18082G>A | - | IntronicSNV | - | 3/7 |
| 15-100857655-C-T | ADAMTS17 | c.616+13439G>A | - | IntronicSNV | - | 3/21 |
| 9-127439200-T-C | NR6A1 | c.142+56387A>G | - | IntronicSNV | - | 2/9 |
| 21-27513837-A-G | APP | c.57+29045T>C | - | IntronicSNV | - | 1/17 |
| 11-20659757-G-A | SLC6A5 | c.1870-248G>A | - | IntronicSNV | - | 12/15 |
| 8-3053592-G-T | CSMD1 | c.5194+3644C>A | - | IntronicSNV | - | 33/69 |
| 3-153876826-A-G | ARHGEF26 | c.1487+6105A>G | - | IntronicSNV | - | 6/14 |
| 9-7165427-G-A | KDM4C | c.2901+70G>A | - | IntronicSNV | - | 20/21 |
| 9-7165427-G-C | KDM4C | c.2901+70G>C | - | IntronicSNV | - | 20/21 |
| 8-3053592-G-A | CSMD1 | c.5194+3644C>T | - | IntronicSNV | - | 33/69 |
| 9-78901112-C-T | PCSK5 | c.3143-6037C>T | - | IntronicSNV | - | 24/36 |
| 10-115316812-T-C | HABP2 | c.69+3863T>C | - | IntronicSNV | - | 1/12 |
| 10-115320498-C-T | HABP2 | c.70-6750C>T | - | IntronicSNV | - | 1/12 |
| 9-78901112-C-G | PCSK5 | c.3143-6037C>G | - | IntronicSNV | - | 24/36 |
| 14-94941587-G-A | SERPINA9 | c.-18+886C>T | - | intron_variant | - | 1/4 |
| 20-20053676-T-C | CFAP61 | c.295-1270T>C | - | IntronicSNV | - | 3/26 |
| 1-183816683-G-T | RGL1 | c.244-17G>T | - | IntronicSNV | - | 3/18 |
| 10-74900783-C-T | ECD | c.1128-1288G>A | - | IntronicSNV | - | 9/13 |
| 12-104894402-A-G | CHST11 | c.118+43095A>G | - | IntronicSNV | - | 1/2 |
| 13-47237890-C-T | LRCH1 | c.453-5275C>T | - | IntronicSNV | - | 2/18 |
| 21-40196388-C-T | ETS2 | c.*1575C>T | - | 3-UTRSNV | 11/11 | - |
| 3-62663519-T-C | CADPS | c.889-15450A>G | - | IntronicSNV | - | 3/29 |
| 6-148801719-C-T | SASH1 | c.627+6361C>T | - | IntronicSNV | - | 7/19 |
| 3-62663519-T-G | CADPS | c.889-15450A>C | - | IntronicSNV | - | 3/29 |
| 3-21762610-G-C | ZNF385D | c.22+29777C>G | - | IntronicSNV | - | 1/7 |
| 3-21762610-G-T | ZNF385D | c.22+29777C>A | - | IntronicSNV | - | 1/7 |
| 3-21762610-G-A | ZNF385D | c.22+29777C>T | - | IntronicSNV | - | 1/7 |
| 12-66944945-G-A | GRIP1 | c.137-9215C>T | - | IntronicSNV | - | 2/22 |
| 2-234923954-C-T | TRPM8 | c.*698C>T | - | IntronicSNV | - | 25/25 |
| 1-162104658-T-C | NOS1AP | c.106-19537T>C | - | IntronicSNV | - | 1/9 |
| 3-62652520-A-G | CADPS | c.889-4451T>C | - | IntronicSNV | - | 3/29 |
| 3-10966588-A-G | SLC6A11 | c.1121-1102A>G | - | IntronicSNV | - | 8/13 |
| 4-147787745-T-A | TTC29 | c.885+905A>T | - | IntronicSNV | - | 8/12 |
| 2-167177359-T-C | SCN9A | c.1-9093A>G | - | IntronicSNV | - | 1/26 |
| 16-53882657-C-T | FTO | c.895+4447C>T | - | IntronicSNV | - | 4/8 |
| 12-1997181-C-T | CACNA2D4 | c.782-946G>A | - | IntronicSNV | - | 6/37 |
| 12-1997181-C-G | CACNA2D4 | c.782-946G>C | - | IntronicSNV | - | 6/37 |
| 8-102754874-C-A | NCALD | c.1-23017G>T | - | IntronicSNV | - | 5/7 |
| 15-27183836-G-A | GABRA5 | c.725-1236G>A | - | IntronicSNV | - | 8/10 |
| 12-25245604-T-G | LRMP | c.606+2473T>G | - | IntronicSNV | - | 13/20 |
| 3-29421970-C-A | RBMS3 | c.76-54267C>A | - | IntronicSNV | - | 1/13 |
| 20-20059715-C-T | CFAP61 | c.566+3456C>T | - | IntronicSNV | - | 6/26 |
| 1-231363000-A-G | C1orf131 | c.511-186T>C | - | IntronicSNV | - | 3/6 |
| 3-139784874-A-G | CLSTN2 | c.110-109919A>G | - | IntronicSNV | - | 1/16 |
| 9-102846063-A-T | ERP44 | c.57+15003T>A | - | IntronicSNV | - | 1/11 |
| 9-102846063-A-G | ERP44 | c.57+15003T>C | - | IntronicSNV | - | 1/11 |
| 2-150005013-C-T | LYPD6B | c.6-12265C>T | - | IntronicSNV | - | 2/6 |
| 20-15902630-C-T | MACROD2 | c.776-11291C>T | - | IntronicSNV | - | 10/16 |
| 4-54967358-C-A | GSX2 | c.574+273C>A | - | IntronicSNV | - | 1/1 |
| 11-21592228-C-A | NELL1 | c.1981-82C>A | - | IntronicSNV | - | 17/19 |
| 16-82925549-G-T | CDH13 | c.157+33471G>T | - | IntronicSNV | - | 2/13 |
| 16-82925549-G-C | CDH13 | c.157+33471G>C | - | IntronicSNV | - | 2/13 |
| 6-129970962-C-T | ARHGAP18 | c.114-7799G>A | - | IntronicSNV | - | 1/14 |
| 12-25245604-T-C | LRMP | c.606+2473T>C | - | IntronicSNV | - | 13/20 |
| 11-20669971-T-C | SLC6A5 | c.2070+1491T>C | - | IntronicSNV | - | 14/15 |
| 3-16408457-C-G | RFTN1 | c.1030+3126G>C | - | IntronicSNV | - | 6/9 |
| 4-22441466-G-C | ADGRA3 | c.921-1423C>G | - | IntronicSNV | - | 7/18 |
| 15-73067234-T-G | ADPGK | c.438A>C | p.Ala146Ala | Synonymous | 2/7 | - |
| 8-4217893-C-T | CSMD1 | c.415+59582G>A | - | IntronicSNV | - | 3/69 |
| 14-73742281-G-A | NUMB | c.*1005C>T | - | 3-UTRSNV | 13/13 | - |
| 16-82925549-G-A | CDH13 | c.157+33471G>A | - | IntronicSNV | - | 2/13 |
| 1-174805122-T-G | RABGAP1L | c.297+24024T>G | - | IntronicSNV | - | 2/8 |
| 12-111645043-A-G | CUX2 | c.64-6961A>G | - | IntronicSNV | - | 1/21 |
| 6-136939801-A-G | MAP3K5 | c.2150+4185T>C | - | IntronicSNV | - | 15/29 |
| 4-22441466-G-T | ADGRA3 | c.921-1423C>A | - | IntronicSNV | - | 7/18 |
| 11-88469243-A-T | GRM5 | c.912-82672T>A | - | IntronicSNV | - | 3/8 |
| 13-109472849-A-G | MYO16 | c.877+89A>G | - | IntronicSNV | - | 8/34 |
| 1-234280547-C-T | SLC35F3 | c.284-86616C>T | - | IntronicSNV | - | 2/7 |
| 3-7169453-A-C | GRM7 | c.520-18686A>C | - | IntronicSNV | - | 1/9 |
| 6-129815171-A-C | LAMA2 | c.8244+1543A>C | - | IntronicSNV | - | 58/64 |
| 8-102756851-A-C | NCALD | c.1-24994T>G | - | IntronicSNV | - | 5/7 |
| 9-7150997-T-C | KDM4C | c.2782-14241T>C | - | IntronicSNV | - | 19/21 |
| 11-122618891-A-G | UBASH3B | c.162-28036A>G | - | IntronicSNV | - | 1/13 |
| 2-166440547-A-C | CSRNP3 | c.1-11029A>C | - | IntronicSNV | - | 1/4 |
| 9-130309028-T-C | FAM129B | c.56-14971A>G | - | IntronicSNV | - | 1/13 |
| 9-78917814-T-C | PCSK5 | c.3524-5747T>C | - | IntronicSNV | - | 27/36 |
| 1-233489054-T-G | MAP3K21 | c.987-499T>G | - | IntronicSNV | - | 2/9 |
| 6-125574509-T-C | TPD52L1 | c.300-354T>C | - | IntronicSNV | - | 4/6 |
| 8-72184898-G-A | EYA1 | c.827-766C>T | - | IntronicSNV | - | 9/17 |
| 9-129165060-T-G | MVB12B | c.662+7084T>G | - | IntronicSNV | - | 6/9 |
| 7-11554096-A-G | THSD7A | c.1822+26950T>C | - | IntronicSNV | - | 6/27 |
| 21-41532330-A-G | DSCAM | c.3018+6815T>C | - | IntronicSNV | - | 16/32 |
| 12-95521370-C-T | FGD6 | c.3082+7145G>A | - | IntronicSNV | - | 8/20 |
| 11-21016033-A-G | NELL1 | c.1300+33927A>G | - | IntronicSNV | - | 12/19 |
| 6-32180120-T-G | NOTCH4 | c.2680+131A>C | - | IntronicSNV | - | 17/29 |
| 1-201121523-T-A | TMEM9 | c.67-543A>T | - | IntronicSNV | - | 2/5 |
| 8-4185750-T-C | CSMD1 | c.415+91725A>G | - | IntronicSNV | - | 3/69 |
| 1-201121523-T-C | TMEM9 | c.67-543A>G | - | IntronicSNV | - | 2/5 |
| 12-128911483-T-C | TMEM132C | c.974+11318T>C | - | IntronicSNV | - | 2/8 |
| 10-127504389-G-A | UROS | c.147+357C>T | - | IntronicSNV | - | 3/9 |
| 13-95901825-A-T | ABCC4 | c.75-1818T>A | - | IntronicSNV | - | 1/30 |
| 10-24799613-G-A | KIAA1217 | c.2002-2575G>A | - | IntronicSNV | - | 9/20 |
| 4-178256913-C-T | NEIL3 | c.350C>T | p.Pro117Leu | Missense | 3/10 | - |
| 10-127642276-A-G | FANK1 | c.14-26454A>G | - | IntronicSNV | - | 1/10 |
| 3-41490064-G-T | ULK4 | c.3492+6924C>A | - | IntronicSNV | - | 34/36 |
| 10-61937004-C-T | ANK3 | c.2185-4060G>A | - | IntronicSNV | - | 18/43 |
| 1-28227665-T-C | RPA2 | c.334-3447A>G | - | IntronicSNV | - | 4/8 |
| 6-31133894-G-C | POU5F1 | c.406-70C>G | - | IntronicSNV | - | 1/4 |
| 12-6084191-G-C | VWF | c.7437+1086C>G | - | IntronicSNV | - | 43/51 |
| 2-240900121-C-T | NDUFA10 | c.*414G>A | - | 3-UTRSNV | 10/10 | - |
| 8-140982636-T-C | TRAPPC9 | c.3104+16298A>G | - | IntronicSNV | - | 19/22 |
| 15-73067234-T-C | ADPGK | c.438A>G | p.Ala146Ala | Synonymous | 2/7 | - |
| 15-73067234-T-A | ADPGK | c.438A>T | p.Ala146Ala | Synonymous | 2/7 | - |
| 1-55546895-T-C | USP24 | c.7078+100A>G | - | IntronicSNV | - | 59/67 |
| 7-50507678-C-T | FIGNL1 | c.*5283G>A | - | IntergenicSNV | 4/4 | - |
| 8-102756851-A-G | NCALD | c.1-24994T>C | - | IntronicSNV | - | 5/7 |
| 1-183812807-G-A | RGL1 | c.244-3893G>A | - | IntronicSNV | - | 3/18 |
| 1-183812807-G-T | RGL1 | c.244-3893G>T | - | IntronicSNV | - | 3/18 |
| 6-129793717-C-A | LAMA2 | c.7301-642C>A | - | IntronicSNV | - | 51/64 |
| 20-42654347-T-A | TOX2 | c.285+18915T>A | - | IntronicSNV | - | 3/8 |