Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
10-61820631-T-C | ANK3 | c.12596-1443A>G | - | IntronicSNV | - | 40/43 |
12-75566990-T-G | KCNC2 | c.687+34087A>C | - | IntronicSNV | - | 2/4 |
11-113065319-T-C | NCAM1 | c.53-7782T>C | - | intron_variant | - | 2/19 |
10-61870669-G-A | ANK3 | c.2949-1857C>T | - | IntronicSNV | - | 26/43 |
10-61854744-G-T | ANK3 | c.3329-6628C>A | - | IntronicSNV | - | 28/43 |
11-118037564-G-A | SCN2B | c.*38C>T | - | 3-UTRSNV | 4/4 | - |
11-113103995-T-G | NCAM1 | c.1620T>G | p.Ser540Arg | Missense | 13/20 | - |
1-154714762-C-T | KCNN3 | c.1449-9142G>A | - | IntronicSNV | - | 3/7 |
19-41067283-T-G | SPTBN4 | c.5915+974T>G | - | IntronicSNV | - | 27/35 |
1-175322140-G-C | TNR | c.3382+1387C>G | - | IntronicSNV | - | 18/22 |
1-175322140-G-T | TNR | c.3382+1387C>A | - | IntronicSNV | - | 18/22 |
4-6342213-C-T | PPP2R2C | c.791-6755G>A | - | IntronicSNV | - | 6/8 |
2-208450788-C-G | CREB1 | c.881+8409C>G | - | IntronicSNV | - | 8/8 |
11-113116371-C-T | NCAM1 | c.1796-719C>T | - | intron_variant | - | 14/19 |
2-166199284-T-A | SCN2A | c.2562+305T>A | - | IntronicSNV | - | 15/26 |
8-133482177-C-T | KCNQ3 | c.386+10217G>A | - | IntronicSNV | - | 1/14 |
12-41125582-A-T | CNTN1 | c.-77+39188A>T | - | intron_variant | - | 1/23 |
1-175378694-A-C | TNR | c.1-2844T>G | - | IntronicSNV | - | 2/22 |
8-133208405-C-A | KCNQ3 | c.387-9977G>T | - | IntronicSNV | - | 1/14 |
8-32410110-G-A | NRG1 | c.38-43236G>A | - | IntronicSNV | - | 1/11 |
2-208450788-C-T | CREB1 | c.881+8409C>T | - | IntronicSNV | - | 8/8 |
18-11992546-C-G | IMPA2 | c.97-6507C>G | - | IntronicSNV | - | 1/7 |
22-36970287-T-A | CACNG2 | c.296-7747A>T | - | IntronicSNV | - | 2/3 |
12-75529751-A-C | KCNC2 | c.687+71326T>G | - | IntronicSNV | - | 2/4 |
10-62006261-T-C | ANK3 | c.799-11717A>G | - | IntronicSNV | - | 7/43 |
21-45821529-T-G | TRPM2 | c.2322-35T>G | - | IntronicSNV | - | 15/31 |
11-17770833-T-A | KCNC1 | c.570+12714T>A | - | IntronicSNV | - | 1/1 |
4-6323454-A-C | PPP2R2C | c.*1575T>G | - | 3-UTRSNV | 9/9 | - |
8-133208405-C-T | KCNQ3 | c.387-9977G>A | - | IntronicSNV | - | 1/14 |
8-133208405-C-G | KCNQ3 | c.387-9977G>C | - | IntronicSNV | - | 1/14 |
11-113118856-C-T | NCAM1 | c.1798+1764C>T | - | intron_variant | - | 15/19 |
7-147039963-G-T | CNTNAP2 | c.1498+42581G>T | - | IntronicSNV | - | 9/23 |
19-50822408-T-G | KCNC3 | c.*1095A>C | - | IntronicSNV | - | 4/4 |
12-75437930-C-G | KCNC2 | c.1616-1776G>C | - | IntronicSNV | - | 3/4 |
4-6375269-A-G | PPP2R2C | c.448-842T>C | - | IntronicSNV | - | 4/8 |
18-74720957-G-A | MBP | c.255+848C>T | - | IntronicSNV | - | 2/6 |
12-121605355-G-A | P2RX7 | c.809G>A | p.Arg270His | Missense | 8/13 | - |
1-154823021-C-T | KCNN3 | c.933+18487G>A | - | IntronicSNV | - | 1/7 |
22-37013694-A-C | CACNG2 | c.212-30099T>G | - | IntronicSNV | - | 1/3 |
12-121688972-C-G | CAMKK2 | c.1162-1135G>C | - | IntronicSNV | - | 11/15 |
19-50822408-T-A | KCNC3 | c.*1095A>T | - | IntronicSNV | - | 4/4 |
12-5021228-T-C | KCNA1 | c.684T>C | p.Cys228Cys | Synonymous | 2/2 | - |
15-34529277-T-C | SLC12A6 | c.2782-261A>G | - | IntronicSNV | - | 21/24 |
11-17774473-A-G | KCNC1 | c.570+16354A>G | - | IntronicSNV | - | 1/1 |
19-35799200-T-C | MAG | c.1232-1577T>C | - | IntronicSNV | - | 7/11 |
12-121605355-G-C | P2RX7 | c.809G>C | p.Arg270Pro | Missense | 8/13 | - |
7-147137877-G-T | CNTNAP2 | c.1670+45005G>T | - | IntronicSNV | - | 10/23 |
7-147137877-G-A | CNTNAP2 | c.1670+45005G>A | - | IntronicSNV | - | 10/23 |
7-147137877-G-C | CNTNAP2 | c.1670+45005G>C | - | IntronicSNV | - | 10/23 |
12-121681687-T-C | CAMKK2 | c.1553+1256A>G | - | IntronicSNV | - | 15/15 |
7-146365436-G-C | CNTNAP2 | c.98-105927G>C | - | IntronicSNV | - | 1/23 |
2-210582816-T-C | MAP2 | c.1177-5503T>C | - | IntronicSNV | - | 11/14 |
19-41006426-G-A | SPTBN4 | c.785-1402G>A | - | IntronicSNV | - | 7/35 |
19-35523119-T-A | SCN1B | c.41-313T>A | - | IntronicSNV | - | 1/5 |
7-147870422-C-T | CNTNAP2 | c.3010+852C>T | - | IntronicSNV | - | 18/23 |
7-147017835-G-C | CNTNAP2 | c.1498+20453G>C | - | IntronicSNV | - | 9/23 |
7-147267608-A-G | CNTNAP2 | c.1897+8259A>G | - | IntronicSNV | - | 12/23 |
1-204865284-A-C | NFASC | c.-199-24476A>C | - | intron_variant | - | 1/29 |
8-133150103-C-T | KCNQ3 | c.1700+29G>A | - | IntronicSNV | - | 12/14 |
7-147488630-G-A | CNTNAP2 | c.2099-112027G>A | - | IntronicSNV | - | 13/23 |
8-133227626-A-C | KCNQ3 | c.387-29198T>G | - | IntronicSNV | - | 1/14 |
1-66276985-T-C | PDE4B | c.-71+18054T>C | - | intron_variant | - | 1/16 |
10-62136279-C-A | ANK3 | c.114+12904G>T | - | IntronicSNV | - | 1/43 |
1-206231151-C-G | AVPR1B | c.*9C>G | - | 3-UTRSNV | 2/2 | - |
18-74702864-G-A | MBP | c.256-848C>T | - | IntronicSNV | - | 2/6 |
7-146715861-C-A | CNTNAP2 | c.403-25138C>A | - | IntronicSNV | - | 3/23 |
7-146715861-C-T | CNTNAP2 | c.403-25138C>T | - | IntronicSNV | - | 3/23 |
19-50827785-G-A | KCNC3 | c.871-446C>T | - | IntronicSNV | - | 1/4 |
12-121597413-G-A | P2RX7 | c.364-1292G>A | - | IntronicSNV | - | 3/12 |
2-166162705-G-T | SCN2A | c.387-1653G>T | - | IntronicSNV | - | 3/26 |
18-11992546-C-A | IMPA2 | c.97-6507C>A | - | IntronicSNV | - | 1/7 |
2-210508524-G-A | MAP2 | c.1-9371G>A | - | IntronicSNV | - | 4/14 |
20-62092342-G-A | KCNQ2 | c.296+11179C>T | - | IntronicSNV | - | 1/7 |
18-12013384-T-C | IMPA2 | c.382-880T>C | - | IntronicSNV | - | 4/7 |
10-62015782-G-A | ANK3 | c.798+5835C>T | - | IntronicSNV | - | 7/43 |
8-32453358-G-A | NRG1 | c.50G>A | p.Arg17Gln | Missense | 2/12 | - |
1-204890731-A-G | NFASC | c.-91+863A>G | - | intron_variant | - | 2/29 |
11-113056711-G-A | NCAM1 | c.53-16390G>A | - | intron_variant | - | 2/19 |
1-204974508-C-T | NFASC | c.3289+2632C>T | - | IntronicSNV | - | 27/29 |
10-62143348-C-T | ANK3 | c.114+5835G>A | - | IntronicSNV | - | 1/43 |
19-41038574-G-A | SPTBN4 | c.3991G>A | p.Gly1331Ser | Missense | 19/36 | - |
1-205044339-A-G | CNTN2 | c.*1446A>G | - | 3-UTRSNV | 23/23 | - |
1-154834911-G-A | KCNN3 | c.933+6597C>T | - | IntronicSNV | - | 1/7 |
22-37091631-T-C | CACNG2 | c.211+6780A>G | - | IntronicSNV | - | 1/3 |
19-40982375-A-G | SPTBN4 | c.169+3678A>G | - | IntronicSNV | - | 2/35 |
7-147712309-A-G | CNTNAP2 | c.2383+37228A>G | - | IntronicSNV | - | 15/23 |
9-117840922-A-G | TNC | c.2405-431T>C | - | IntronicSNV | - | 6/27 |
21-45811343-T-G | TRPM2 | c.1629T>G | p.Asp543Glu | Missense | 11/32 | - |
21-45811343-T-C | TRPM2 | c.1629T>C | p.Asp543Asp | Synonymous | 11/32 | - |
11-17764913-C-T | KCNC1 | c.570+6794C>T | - | IntronicSNV | - | 1/1 |
18-12013384-T-A | IMPA2 | c.382-880T>A | - | IntronicSNV | - | 4/7 |
1-154794897-G-A | KCNN3 | c.934-237C>T | - | IntronicSNV | - | 1/7 |
7-147712309-A-T | CNTNAP2 | c.2383+37228A>T | - | IntronicSNV | - | 15/23 |
10-61870135-G-C | ANK3 | c.2949-1323C>G | - | IntronicSNV | - | 26/43 |
7-107834613-G-C | NRCAM | c.1633C>G | p.Pro545Ala | Missense | 17/33 | - |
15-34542606-T-C | SLC12A6 | c.1439-50A>G | - | IntronicSNV | - | 11/24 |
21-34399401-A-G | OLIG2 | c.231A>G | p.Ser77Ser | Synonymous | 2/2 | - |
4-6325086-G-A | PPP2R2C | c.1287C>T | p.Ile429Ile | Synonymous | 9/9 | - |
2-166166456-C-T | SCN2A | c.698-377C>T | - | IntronicSNV | - | 6/26 |
18-11996337-G-A | IMPA2 | c.97-2716G>A | - | IntronicSNV | - | 1/7 |
2-166162705-G-A | SCN2A | c.387-1653G>A | - | IntronicSNV | - | 3/26 |
22-37081695-T-C | CACNG2 | c.211+16716A>G | - | IntronicSNV | - | 1/3 |
2-166196681-T-A | SCN2A | c.2389-2125T>A | - | IntronicSNV | - | 14/26 |
1-175355391-A-G | TNR | c.1554T>C | p.Thr518Thr | Synonymous | 8/23 | - |
10-61876681-A-G | ANK3 | c.2842-2592T>C | - | IntronicSNV | - | 25/43 |
10-61959027-C-T | ANK3 | c.1492-732G>A | - | IntronicSNV | - | 13/43 |
7-107834613-G-A | NRCAM | c.1633C>T | p.Pro545Ser | Missense | 17/33 | - |
3-38622467-T-G | SCN5A | c.3183A>C | p.Glu1061Asp | Missense | 17/28 | - |
3-38622467-T-C | SCN5A | c.3183A>G | p.Glu1061Glu | Synonymous | 17/28 | - |
1-154693513-A-G | KCNN3 | c.1701+4879T>C | - | IntronicSNV | - | 5/7 |
18-74725166-C-T | MBP | c.178-3284G>A | - | IntronicSNV | - | 1/6 |
10-62034497-T-C | ANK3 | c.414+4035A>G | - | IntronicSNV | - | 4/43 |
1-205037354-G-A | CNTN2 | c.2125+976G>A | - | IntronicSNV | - | 16/22 |
7-146680329-A-C | CNTNAP2 | c.403-60670A>C | - | IntronicSNV | - | 3/23 |
12-75563380-A-G | KCNC2 | c.687+37697T>C | - | IntronicSNV | - | 2/4 |
1-154703725-G-A | KCNN3 | c.1590+1754C>T | - | IntronicSNV | - | 4/7 |
1-154703725-G-C | KCNN3 | c.1590+1754C>G | - | IntronicSNV | - | 4/7 |
10-61802242-C-T | ANK3 | c.*207G>A | - | IntronicSNV | - | 43/43 |
17-40835922-A-C | CNTNAP1 | c.151A>C | p.Arg51Arg | Synonymous | 2/24 | - |
1-154741579-A-C | KCNN3 | c.1448+2872T>G | - | IntronicSNV | - | 3/7 |
7-146680329-A-T | CNTNAP2 | c.403-60670A>T | - | IntronicSNV | - | 3/23 |
1-204897572-G-C | NFASC | c.-91+7704G>C | - | intron_variant | - | 2/29 |
12-121605074-G-A | P2RX7 | c.745-217G>A | - | IntronicSNV | - | 7/12 |
18-24445433-T-C | AQP4 | c.32+189A>G | - | IntronicSNV | - | 1/4 |
10-62085337-T-C | ANK3 | c.115-45940A>G | - | IntronicSNV | - | 1/43 |
10-61863259-C-T | ANK3 | c.3328+2404G>A | - | IntronicSNV | - | 28/43 |
10-61863259-C-G | ANK3 | c.3328+2404G>C | - | IntronicSNV | - | 28/43 |
17-7118322-A-G | DLG4 | c.159+3238T>C | - | IntronicSNV | - | 3/21 |
18-74710638-A-C | MBP | c.256-8622T>G | - | IntronicSNV | - | 2/6 |
18-74710638-A-G | MBP | c.256-8622T>C | - | IntronicSNV | - | 2/6 |
20-62099296-C-T | KCNQ2 | c.296+4225G>A | - | IntronicSNV | - | 1/7 |
11-118021740-C-G | SCN4B | c.61+1588G>C | - | IntronicSNV | - | 1/2 |
2-166183577-C-G | SCN2A | c.2149+83C>G | - | IntronicSNV | - | 13/26 |
7-107932781-C-T | NRCAM | c.-107+20328G>A | - | intron_variant | - | 3/32 |
10-61820631-T-A | ANK3 | c.12596-1443A>T | - | IntronicSNV | - | 40/43 |
18-74715925-A-G | MBP | c.255+5880T>C | - | IntronicSNV | - | 2/6 |
12-41131755-G-A | CNTN1 | c.-77+45361G>A | - | intron_variant | - | 1/23 |
8-133439033-T-C | KCNQ3 | c.386+53361A>G | - | IntronicSNV | - | 1/14 |
22-32339213-T-C | C22orf24 | c.-50+2006A>G | - | intron_variant | - | 1/2 |
1-175335962-C-T | TNR | c.2053+382G>A | - | IntronicSNV | - | 10/22 |
7-146365436-G-T | CNTNAP2 | c.98-105927G>T | - | IntronicSNV | - | 1/23 |
10-61870135-G-A | ANK3 | c.2949-1323C>T | - | IntronicSNV | - | 26/43 |
19-42489516-A-T | ATP1A3 | c.666T>A | p.Thr222Thr | Synonymous | 7/23 | - |
15-34542606-T-A | SLC12A6 | c.1439-50A>T | - | IntronicSNV | - | 11/24 |
10-61964409-C-T | ANK3 | c.1293+1141G>A | - | IntronicSNV | - | 11/43 |
12-75483972-A-G | KCNC2 | c.688-38875T>C | - | IntronicSNV | - | 2/4 |
21-45821529-T-C | TRPM2 | c.2322-35T>C | - | IntronicSNV | - | 15/31 |
7-146981896-T-G | CNTNAP2 | c.1349-15337T>G | - | IntronicSNV | - | 8/23 |
7-148071183-G-A | CNTNAP2 | c.3476-9558G>A | - | IntronicSNV | - | 21/23 |
10-61939519-A-G | ANK3 | c.2184+1568T>C | - | IntronicSNV | - | 18/43 |
10-61814052-T-C | ANK3 | c.13065+1364A>G | - | IntronicSNV | - | 42/43 |
12-121607891-G-A | P2RX7 | c.881+2464G>A | - | IntronicSNV | - | 8/12 |
1-175335962-C-G | TNR | c.2053+382G>C | - | IntronicSNV | - | 10/22 |
22-37096794-T-A | CACNG2 | c.211+1617A>T | - | IntronicSNV | - | 1/3 |
18-11983073-G-A | IMPA2 | c.96+1309G>A | - | IntronicSNV | - | 1/7 |
22-37025274-A-C | CACNG2 | c.212-41679T>G | - | IntronicSNV | - | 1/3 |
17-7095090-C-G | DLG4 | c.2105+122G>C | - | IntronicSNV | - | 20/21 |
17-7095090-C-A | DLG4 | c.2105+122G>T | - | IntronicSNV | - | 20/21 |
1-204965754-T-C | NFASC | c.2783-544T>C | - | IntronicSNV | - | 24/29 |
2-208426257-G-A | CREB1 | c.303+373G>A | - | IntronicSNV | - | 4/8 |
22-36989327-T-G | CACNG2 | c.212-5732A>C | - | IntronicSNV | - | 1/3 |
11-118005119-T-C | SCN4B | c.*2623A>G | - | 3-UTRSNV | 3/3 | - |
11-118005119-T-A | SCN4B | c.*2623A>T | - | 3-UTRSNV | 3/3 | - |
18-11983565-C-T | IMPA2 | c.96+1801C>T | - | IntronicSNV | - | 1/7 |
1-204951540-A-G | NFASC | c.2470+392A>G | - | IntronicSNV | - | 21/29 |
17-40835922-A-G | CNTNAP1 | c.151A>G | p.Arg51Gly | Missense | 2/24 | - |
7-107809412-T-C | NRCAM | c.3188-565A>G | - | IntronicSNV | - | 28/32 |
19-41067283-T-A | SPTBN4 | c.5915+974T>A | - | IntronicSNV | - | 27/35 |
2-166183577-C-T | SCN2A | c.2149+83C>T | - | IntronicSNV | - | 13/26 |
12-121686108-G-A | CAMKK2 | c.1452+301C>T | - | IntronicSNV | - | 14/15 |
15-94956545-T-A | MCTP2 | c.2085+11297T>A | - | IntronicSNV | - | 16/21 |
1-154718778-G-A | KCNN3 | c.1449-13158C>T | - | IntronicSNV | - | 3/7 |
22-37096794-T-C | CACNG2 | c.211+1617A>G | - | IntronicSNV | - | 1/3 |
8-32412963-T-A | NRG1 | c.38-40383T>A | - | IntronicSNV | - | 1/11 |
10-61814417-T-A | ANK3 | c.13065+999A>T | - | IntronicSNV | - | 42/43 |
10-61814417-T-C | ANK3 | c.13065+999A>G | - | IntronicSNV | - | 42/43 |
10-62133503-C-T | ANK3 | c.114+15680G>A | - | IntronicSNV | - | 1/43 |
1-154688197-C-T | KCNN3 | c.1702-718G>A | - | IntronicSNV | - | 5/7 |
8-32605365-G-A | NRG1 | c.578-1714G>A | - | IntronicSNV | - | 6/11 |
19-50820795-C-T | KCNC3 | c.*24-1447G>A | - | intron_variant | - | 4/4 |
8-32512823-G-A | NRG1 | c.388+40741G>A | - | IntronicSNV | - | 4/11 |
22-37091631-T-A | CACNG2 | c.211+6780A>T | - | IntronicSNV | - | 1/3 |
10-62136279-C-T | ANK3 | c.114+12904G>A | - | IntronicSNV | - | 1/43 |
17-40846914-C-T | CNTNAP1 | c.2993-625C>T | - | IntronicSNV | - | 18/23 |
1-154811573-C-T | KCNN3 | c.934-16913G>A | - | IntronicSNV | - | 1/7 |
15-34575748-A-G | SLC12A6 | c.119-8158T>C | - | IntronicSNV | - | 1/24 |
1-66760560-A-G | PDE4B | c.634+28790A>G | - | IntronicSNV | - | 7/16 |
1-66760560-A-T | PDE4B | c.634+28790A>T | - | IntronicSNV | - | 7/16 |
18-11989379-A-C | IMPA2 | c.96+7615A>C | - | IntronicSNV | - | 1/7 |
22-36970287-T-C | CACNG2 | c.296-7747A>G | - | IntronicSNV | - | 2/3 |
2-166234979-T-C | SCN2A | c.4308+819T>C | - | IntronicSNV | - | 23/26 |
18-74694985-T-C | MBP | c.549+1746A>G | - | IntronicSNV | - | 6/6 |
19-42489516-A-C | ATP1A3 | c.666T>G | p.Thr222Thr | Synonymous | 7/23 | - |
1-206231151-C-T | AVPR1B | c.*9C>T | - | 3-UTRSNV | 2/2 | - |
8-32410110-G-T | NRG1 | c.38-43236G>T | - | IntronicSNV | - | 1/11 |
2-210465558-G-A | MAP2 | c.-107+20734G>A | - | intron_variant | - | 3/14 |
1-154758422-C-T | KCNN3 | c.1030-13553G>A | - | IntronicSNV | - | 2/7 |
12-121681536-C-T | CAMKK2 | c.1553+1407G>A | - | IntronicSNV | - | 15/15 |
8-32605365-G-T | NRG1 | c.578-1714G>T | - | IntronicSNV | - | 6/11 |
10-62010523-A-G | ANK3 | c.798+11094T>C | - | IntronicSNV | - | 7/43 |
15-34554911-G-A | SLC12A6 | c.164-1690C>T | - | IntronicSNV | - | 2/24 |
10-61938252-C-T | ANK3 | c.2184+2835G>A | - | IntronicSNV | - | 18/43 |
8-32474622-A-G | NRG1 | c.388+2540A>G | - | IntronicSNV | - | 4/11 |
10-61938252-C-A | ANK3 | c.2184+2835G>T | - | IntronicSNV | - | 18/43 |
1-154681950-A-G | KCNN3 | c.1900-1202T>C | - | IntronicSNV | - | 7/7 |
7-146624180-T-A | CNTNAP2 | c.402+87184T>A | - | IntronicSNV | - | 3/23 |
10-61940899-A-G | ANK3 | c.2184+188T>C | - | IntronicSNV | - | 18/43 |
7-147597251-T-C | CNTNAP2 | c.2099-3406T>C | - | IntronicSNV | - | 13/23 |
8-133184914-G-A | KCNQ3 | c.1071C>T | p.Leu357Leu | Synonymous | 7/15 | - |
8-133184914-G-C | KCNQ3 | c.1071C>G | p.Leu357Leu | Synonymous | 7/15 | - |
12-75437930-C-T | KCNC2 | c.1616-1776G>A | - | IntronicSNV | - | 3/4 |
10-61793446-T-C | ANK3 | c.*20-3862A>G | - | intron_variant | - | 43/43 |
2-208435555-T-C | CREB1 | c.547+510T>C | - | IntronicSNV | - | 6/8 |
1-154793798-G-A | KCNN3 | c.1029+767C>T | - | IntronicSNV | - | 2/7 |
15-34528948-G-A | SLC12A6 | c.2850C>T | p.Leu950Leu | Synonymous | 22/25 | - |
1-175335234-C-T | TNR | c.2094G>A | p.Ser698Ser | Synonymous | 11/23 | - |
10-61802550-A-T | ANK3 | c.13066-33T>A | - | IntronicSNV | - | 42/43 |
1-111148080-C-A | KCNA2 | c.-231G>T | - | 5_prime_UTR_variant | 2/3 | - |
12-121677314-G-T | CAMKK2 | c.*1286C>A | - | 3-UTRSNV | 16/16 | - |
12-41443634-A-C | CNTN1 | c.2981-20127A>C | - | IntronicSNV | - | 23/23 |
18-24435818-C-T | AQP4 | c.*357G>A | - | 3-UTRSNV | 5/5 | - |
1-204849919-C-T | NFASC | c.-199-39841C>T | - | intron_variant | - | 1/29 |
12-41359761-C-A | CNTN1 | c.1804+6725C>A | - | IntronicSNV | - | 15/23 |
12-121677314-G-C | CAMKK2 | c.*1286C>G | - | 3-UTRSNV | 16/16 | - |
4-6351958-G-A | PPP2R2C | c.626-2221C>T | - | IntronicSNV | - | 5/8 |
1-205046894-T-C | CNTN2 | c.*4001T>C | - | 3-UTRSNV | 23/23 | - |
12-75493882-T-C | KCNC2 | c.688-48785A>G | - | IntronicSNV | - | 2/4 |
7-107998949-A-C | NRCAM | c.-174+40931T>G | - | intron_variant | - | 2/32 |
7-107998949-A-T | NRCAM | c.-174+40931T>A | - | intron_variant | - | 2/32 |