PMID: 24109560

Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.

PeerJ
JA O'Rawe, H Fang, S Rynearson, R Robison, ES Kiruluta, G Higgins, K Eilbeck, MG Reese, GJ Lyon
2013

291 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-11861389-C-T MTHFR c.304G>A p.Gly102Ser Missense 3/12 -
6-33289542-C-T DAXX c.161G>A p.Gly54Asp Missense 2/8 -
7-99306685-C-G CYP3A7 c.1226G>C p.Arg409Thr Missense 11/13 -
16-48258198-C-G ABCC11 c.538G>C p.Gly180Arg Missense 6/31 -
11-111963860-A-G SDHD c.315-1669A>G - IntronicSNV - 3/3
1-55524197-A-G PCSK9 c.1380A>G p.Val460Val Synonymous 9/12 -
1-55524197-A-C PCSK9 c.1380A>C p.Val460Val Synonymous 9/12 -
5-112176756-T-A APC c.5465T>A p.Val1822Asp Missense 16/16 -
5-112176756-T-G APC c.5465T>G p.Val1822Gly Missense 16/16 -
19-41350664-A-T CYP2A6 c.1175T>A p.Phe392Tyr Missense 8/9 -
16-57003326-AG-CC CETP c.262_263delAGinsCC p.Ser88Pro Missense 3/16 -
19-16008400-A-G CYP4F2 c.22T>C p.Trp8Arg Missense 2/13 -
16-69752060-T-C NQO1 c.269A>G p.Lys90Arg Missense 3/6 -
11-27679684-C-T BDNF c.428G>A p.Ser143Asn Missense 1/1 -
1-201052310-A-T CACNA1S c.1373T>A p.Leu458His Missense 10/44 -
10-50859982-A-G CHAT c.1564A>G p.Thr522Ala Missense 11/15 -
10-43610119-G-T RET c.2071G>T p.Gly691Cys Missense 11/20 -
X-153760508-A-G G6PD c.1455-13T>C - IntronicSNV - 11/12
16-69745129-CT-TA NQO1 c.574_575delAGinsTA p.Ser192Tyr Missense 6/6 -
3-42917047-A-C CYP8B1 c.262T>G p.Ser88Ala Missense 1/1 -
1-226019480-G-A EPHX1 c.184G>A p.Asp62Asn Missense 3/9 -
5-7873501-G-C MTRR c.145G>C p.Glu49Gln Missense 3/15 -
19-15726560-G-T CYP4F8 c.133G>T p.Gly45Cys Missense 2/14 -
19-15726560-G-A CYP4F8 c.133G>A p.Gly45Ser Missense 2/14 -
9-136301982-C-G ADAMTS13 c.1342C>G p.Gln448Glu Missense 12/29 -
8-18258270-GTC-ATG NAT2 c.757_759delGTCinsATG p.Val253Met Missense 2/2 -
16-69752398-G-A NQO1 c.47C>T p.Thr16Met Missense 2/6 -
9-125133479-T-C PTGS1 c.22T>C p.Trp8Arg Missense 2/11 -
19-16006355-A-C CYP4F2 c.304T>G p.Cys102Gly Missense 3/13 -
3-123451773-G-C MYLK c.1486C>G p.Leu496Val Missense 11/34 -
1-47264724-G-T CYP4B1 c.1-30G>T - 5-UTRSNV 1/12 -
1-55529187-G-A PCSK9 c.2009G>A p.Gly670Glu Missense 12/12 -
1-11855282-C-G MTHFR c.904G>C p.Ala302Pro Missense 6/12 -
1-223284599-T-C TLR5 c.1775A>G p.Asn592Ser Missense 6/6 -
6-33287926-T-C DAXX c.1327A>G p.Ser443Gly Missense 5/8 -
4-102783780-C-T BANK1 c.722C>T p.Pro241Leu Missense 4/17 -
8-18258031-A-G NAT2 c.518A>G p.Lys173Arg Missense 2/2 -
17-37863273-T-C ERBB2 c.104T>C p.Leu35Pro Missense 2/27 -
17-41244936-G-T BRCA1 c.2612C>A p.Pro871Gln Missense 10/23 -
10-96701979-A-G CYP2C9 c.362A>G p.Lys121Arg Missense 3/9 -
17-41244936-G-C BRCA1 c.2612C>G p.Pro871Arg Missense 10/23 -
19-15789140-A-G CYP4F12 c.268A>G p.Ile90Val Missense 3/13 -
6-32006597-C-G CYP21A2 c.292+9C>G - IntronicSNV - 2/9
1-223284599-T-A TLR5 c.1775A>T p.Asn592Ile Missense 6/6 -
19-11221457-G-A LDLR c.1060+10G>A - IntronicSNV - 7/17
5-7886746-A-C MTRR c.1076A>C p.His359Pro Missense 8/15 -
6-152265522-G-C ESR1 c.975G>C p.Pro325Pro Synonymous 4/8 -
19-16034714-A-T CYP4F11 c.826T>A p.Cys276Ser Missense 6/12 -
19-16034714-A-G CYP4F11 c.826T>C p.Cys276Arg Missense 6/12 -
6-32006597-C-T CYP21A2 c.292+9C>T - IntronicSNV - 2/9
17-41244000-T-A BRCA1 c.3548A>T p.Lys1183Ile Missense 10/23 -
11-64572018-T-C MEN1 c.1636A>G p.Thr546Ala Missense 10/10 -
1-98348885-G-A DPYD c.85C>T p.Arg29Cys Missense 2/23 -
5-7885883-C-T MTRR c.973C>T p.Gln325* Nonsense 7/15 -
2-189875421-T-G COL3A1 c.4059T>G p.His1353Gln Missense 50/51 -
5-7897183-A-G MTRR c.1775A>G p.Glu592Gly Missense 14/15 -
9-107562804-T-C ABCA1 c.4760A>G p.Lys1587Arg Missense 35/50 -
1-31349647-C-A SDC3 c.622G>T p.Val208Leu Missense 3/5 -
1-237620049-T-C RYR2 c.1612+14T>C - IntronicSNV - 16/104
1-201009182-A-G CACNA1S c.5399T>C p.Leu1800Ser Missense 44/44 -
7-141673345-C-G TAS2R38 c.145G>C p.Ala49Pro Missense 1/1 -
1-237893674-C-T RYR2 c.10935+18C>T - IntronicSNV - 77/104
7-117199533-G-A CFTR c.1408G>A p.Val470Met Missense 11/27 -
9-125135489-T-C PTGS1 c.94+1938T>C - IntronicSNV - 2/10
7-99454482-G-T CYP3A43 c.495G>T p.Met165Ile Missense 6/10 -
10-96709000-C-T CYP2C9 c.778C>T p.Pro260Ser Missense 5/9 -
19-16006343-T-C CYP4F2 c.316A>G p.Ile106Val Missense 3/13 -
16-72110588-CGT-AAG HPR c.655_657delCGTinsAAG p.Arg219Lys Missense 5/5 -
6-46563804-T-G CYP39A1 c.925A>C p.Lys309Gln Missense 8/12 -
7-139653196-A-C TBXAS1 c.480A>C - synonymous_variant 6/13 -
12-121176083-G-A ACADS c.625G>A p.Gly209Ser Missense 6/10 -
19-16006397-A-G CYP4F2 c.262T>C p.Phe88Leu Missense 3/13 -
17-37883558-G-A ERBB2 c.3170G>A p.Gly1057Glu Missense 26/27 -
19-15807884-A-G CYP4F12 c.1564A>G p.Ser522Gly Missense 13/13 -
4-102751076-G-A BANK1 c.182G>A p.Arg61His Missense 2/17 -
6-36651971-C-T CDKN1A c.93C>T p.Ser31Ser Synonymous 3/4 -
6-36651971-C-A CDKN1A c.93C>A p.Ser31Arg Missense 3/4 -
10-96698462-T-C CYP2C9 c.23T>C p.Val8Ala Missense 1/9 -
4-102751076-G-T BANK1 c.182G>T p.Arg61Leu Missense 2/17 -
1-226032320-G-C EPHX1 c.1162G>C p.Glu388Gln Missense 8/9 -
19-11221457-G-C LDLR c.1060+10G>C - IntronicSNV - 7/17
8-141461017-G-A TRAPPC9 c.750C>T p.Ile250Ile Synonymous 2/23 -
17-28576076-T-C BLMH c.1327A>G p.Ile443Val Missense 12/12 -
3-123451932-G-A MYLK c.1327C>T p.Pro443Ser Missense 11/34 -
3-37053568-A-C MLH1 c.655A>C p.Ile219Leu Missense 8/19 -
3-37053568-A-T MLH1 c.655A>T p.Ile219Phe Missense 8/19 -
19-15784386-C-T CYP4F12 c.47C>T p.Thr16Met Missense 2/13 -
3-123440967-G-A MYLK c.1804+8C>T - IntronicSNV - 13/33
10-50824619-G-A CHAT c.358G>A p.Ala120Thr Missense 2/15 -
3-123440967-G-C MYLK c.1804+8C>G - IntronicSNV - 13/33
3-123457893-G-A MYLK c.439C>T p.Pro147Ser Missense 7/34 -
10-96602623-G-A CYP2C19 c.991G>A p.Val331Ile Missense 7/9 -
11-27679522-CT-CA BDNF c.589_590delAGinsCA p.Arg197Gln Missense 1/1 -
7-75614082-C-G POR c.1067-13C>G - IntronicSNV - 10/15
19-45322744-A-G BCAM c.1615A>G p.Thr539Ala Missense 12/15 -
10-96701623-G-C CYP2C9 c.177G>C p.Lys59Asn Missense 2/9 -
6-46554829-A-T CYP39A1 c.1175T>A p.Phe392Tyr Missense 10/12 -
1-11855300-T-C MTHFR c.886A>G p.Asn296Asp Missense 6/12 -
7-18688235-GTC-ATG HDAC9 c.1381_1383delGTCinsATG p.Val461Met Missense 12/13 -
19-15989685-G-A CYP4F2 c.1459C>T p.Leu487Leu Synonymous 13/13 -
1-11856375-T-C MTHFR c.668A>G p.Asp223Gly Missense 5/12 -
4-102791664-T-A BANK1 c.766T>A p.Phe256Ile Missense 5/17 -
19-49519883-A-G LHB c.104T>C p.Ile35Thr Missense 2/3 -
8-18257867-T-G NAT2 c.354T>G p.Asn118Lys Missense 2/2 -
4-187158034-G-C KLKB1 c.428G>C p.Ser143Thr Missense 5/15 -
10-96698487-C-T CYP2C9 c.48C>T p.Leu16Leu Synonymous 1/9 -
19-41386136-A-C CYP2A7 c.354T>G p.Asp118Glu Missense 3/8 -
19-16001207-A-G CYP4F2 c.562T>C p.Cys188Arg Missense 6/13 -
10-96740948-C-G CYP2C9 c.970C>G p.Gln324Glu Missense 7/9 -
2-183699584-G-T FRZB c.970C>A p.Arg324Ser Missense 6/6 -
2-183699584-G-C FRZB c.970C>G p.Arg324Gly Missense 6/6 -
2-183699584-G-A FRZB c.970C>T p.Arg324Cys Missense 6/6 -
16-69746986-A-T NQO1 c.464T>A p.Met155Lys Missense 5/6 -
3-30686414-A-T TGFBR2 c.338+7A>T - IntronicSNV - 3/7
19-55665584-A-C TNNI3 c.373-10T>G - IntronicSNV - 6/7
1-203194186-C-T CHIT1 c.304G>A p.Gly102Ser Missense 4/11 -
19-16008388-A-C CYP4F2 c.34T>G p.Trp12Gly Missense 2/13 -
1-237957309-A-C RYR2 c.13913+12A>C - IntronicSNV - 95/104
1-237841390-A-G RYR2 c.8873A>G p.Gln2958Arg Missense 61/105 -
5-7873503-A-G MTRR c.147A>G p.Glu49Glu Synonymous 3/15 -
8-143958139-C-T CYP11B1 c.758G>A p.Trp253* Nonsense 4/9 -
3-9807538-C-G OGG1 c.994C>G p.Leu332Val Missense 7/7 -
1-53712727-C-T LRP8 c.2855G>A p.Arg952Gln Missense 19/19 -
13-110435231-C-G IRS2 c.3170G>C p.Gly1057Ala Missense 1/2 -
1-11856421-C-T MTHFR c.622G>A p.Glu208Lys Missense 5/12 -
5-7883328-G-A MTRR c.841G>A p.Ala281Thr Missense 6/15 -
4-102751055-G-A BANK1 c.161G>A p.Arg54Lys Missense 2/17 -
2-48026308-C-G MSH6 c.1186C>G p.Leu396Val Missense 4/10 -
7-18631159-G-C HDAC9 c.553G>C p.Val185Leu Missense 7/13 -
8-143996539-T-C CYP11B2 c.518A>G p.Lys173Arg Missense 3/9 -
8-141461017-G-C TRAPPC9 c.750C>G p.Ile250Met Missense 2/23 -
16-31102626-C-A VKORC1 c.321G>T p.Leu107Leu Synonymous 3/3 -
7-99270253-T-C CYP3A5 c.268A>G p.Ile90Val Missense 4/13 -
16-48258198-C-T ABCC11 c.538G>A p.Gly180Arg Missense 6/31 -
1-226026406-A-G EPHX1 c.416A>G p.His139Arg Missense 4/9 -
1-226032884-C-T EPHX1 c.1204C>T p.Pro402Ser Missense 9/9 -
2-49191041-C-G FSHR c.919G>C p.Ala307Pro Missense 10/10 -
22-26862041-G-A HPS4 c.706+151C>T - IntronicSNV - 9/13
1-11855211-GCG-TGG MTHFR c.973_975delCGCinsTGG p.Arg325Trp Missense 6/12 -
7-99261611-G-A CYP3A5 c.778C>T p.Arg260Cys Missense 8/13 -
16-69748980-A-C NQO1 c.304T>G p.Phe102Val Missense 4/6 -
15-65494212-A-G CILP c.1184T>C p.Ile395Thr Missense 8/9 -
5-7878230-A-G MTRR c.575A>G p.Glu192Gly Missense 5/15 -
6-46620252-C-G CYP39A1 c.68G>C p.Arg23Pro Missense 1/12 -
16-15820863-C-T MYH11 c.3721G>A p.Ala1241Thr Missense 29/43 -
8-143958516-T-C CYP11B1 c.518A>G p.Lys173Arg Missense 3/9 -
2-231050715-A-G SP110 c.1274T>C p.Leu425Ser Missense 11/19 -
2-231050715-A-C SP110 c.1274T>G p.Leu425Trp Missense 11/19 -
19-16000393-C-T CYP4F2 c.758G>A p.Gly253Glu Missense 7/13 -
7-6026988-G-A PMS2 c.1408C>T p.Pro470Ser Missense 11/15 -
11-27679951-C-T BDNF c.161G>A p.Arg54Lys Missense 1/1 -
19-16008400-A-T CYP4F2 c.22T>A p.Trp8Arg Missense 2/13 -
8-143959174-T-C CYP11B1 c.396-536A>G - IntronicSNV - 2/8
1-161599571-T-C FCGR3B c.316A>G p.Ile106Val Missense 4/6 -
10-96827178-T-C CYP2C8 c.332-64A>G - IntronicSNV - 2/8
6-46563817-A-T CYP39A1 c.912T>A p.Asn304Lys Missense 8/12 -
11-111963860-A-C SDHD c.315-1669A>C - IntronicSNV - 3/3
2-183703336-G-A FRZB c.598C>T p.Arg200Trp Missense 4/6 -
8-55539395-A-T RP1 c.2953A>T p.Asn985Tyr Missense 4/4 -
10-70641860-T-C STOX1 c.457T>C p.Tyr153His Missense 2/4 -
8-18257625-G-A NAT2 c.112G>A p.Glu38Lys Missense 2/2 -
2-21225281-C-T APOB c.13013G>A p.Ser4338Asn Missense 29/29 -
11-111963860-A-T SDHD c.315-1669A>T - IntronicSNV - 3/3
6-33287244-G-A DAXX c.1853C>T p.Ser618Phe Missense 6/8 -
10-96709007-A-G CYP2C9 c.785A>G p.Asp262Gly Missense 5/9 -
3-42917047-A-G CYP8B1 c.262T>C p.Ser88Pro Missense 1/1 -
6-33286979-CT-CA DAXX c.1957_1958delAGinsCA p.Arg653Gln Missense 7/8 -
1-31349647-C-G SDC3 c.622G>C p.Val208Leu Missense 3/5 -
11-126162843-C-T TIRAP c.539C>T p.Ser180Leu Missense 5/5 -
13-32929387-T-C BRCA2 c.7397T>C p.Val2466Ala Missense 14/27 -
16-69752102-T-C NQO1 c.227A>G p.Tyr76Cys Missense 3/6 -
11-27679798-G-A BDNF c.314C>T p.Pro105Leu Missense 1/1 -
1-31349647-C-T SDC3 c.622G>A p.Val208Ile Missense 3/5 -
19-41383153-A-G CYP2A7 c.950T>C p.Met317Thr Missense 6/8 -
9-38396065-G-T ALDH1B1 c.320G>T p.Arg107Leu Missense 2/2 -
9-38396065-G-A ALDH1B1 c.320G>A p.Arg107His Missense 2/2 -
1-237957161-A-C RYR2 c.13783-6A>C - IntronicSNV - 94/104
1-237957161-A-G RYR2 c.13783-6A>G - IntronicSNV - 94/104
19-16001216-C-G CYP4F2 c.553G>C p.Gly185Arg Missense 6/13 -
19-16001172-GG-TG CYP4F2 c.596_597delCCinsTG p.Thr199Met Missense 6/13 -
10-50856652-G-T CHAT c.1381G>T p.Val461Leu Missense 9/15 -
17-41234470-A-G BRCA1 c.4308T>C p.Ser1436Ser Synonymous 12/23 -
11-68846399-A-C TPCN2 c.1450A>C p.Met484Leu Missense 16/25 -
11-68846399-A-T TPCN2 c.1450A>T p.Met484Leu Missense 16/25 -
1-201020105-A-G CACNA1S c.4113+7T>C - IntronicSNV - 33/43
6-33290547-T-C DAXX c.-53+92A>G - intron_variant - 1/7
6-33290547-T-A DAXX c.-53+92A>T - intron_variant - 1/7
6-16290761-T-C GMPR c.766T>C p.Phe256Leu Missense 8/9 -
6-16290761-T-A GMPR c.766T>A p.Phe256Ile Missense 8/9 -
11-27679522-C-T BDNF c.590G>A p.Arg197Lys Missense 1/1 -
1-55505732-A-G PCSK9 c.207+15A>G - IntronicSNV - 1/11
19-15990205-T-C CYP4F2 c.1348A>G p.Ile450Val Missense 12/13 -
1-226016525-G-A EPHX1 c.95G>A p.Gly32Glu Missense 2/9 -
5-7878406-C-T MTRR c.751C>T p.Gln251* Nonsense 5/15 -
9-38396502-G-C ALDH1B1 c.757G>C p.Val253Leu Missense 2/2 -
9-38396502-G-A ALDH1B1 c.757G>A p.Val253Met Missense 2/2 -
10-50856652-G-A CHAT c.1381G>A p.Val461Met Missense 9/15 -
7-141672705-G-A TAS2R38 c.785C>T p.Ala262Val Missense 1/1 -
10-43610119-G-C RET c.2071G>C p.Gly691Arg Missense 11/20 -
10-50824117-G-A CHAT c.287-431G>A - IntronicSNV - 1/14
4-187158034-G-A KLKB1 c.428G>A p.Ser143Asn Missense 5/15 -
15-48720526-G-A FBN1 c.6997+17C>T - IntronicSNV - 57/65
15-48720526-G-C FBN1 c.6997+17C>G - IntronicSNV - 57/65
10-50829219-A-T CHAT c.698+560A>T - IntronicSNV - 4/14
17-41244435-T-G BRCA1 c.3113A>C p.Glu1038Ala Missense 10/23 -
17-41223094-T-A BRCA1 c.4837A>T p.Ser1613Cys Missense 15/23 -
19-41386420-A-C CYP2A7 c.304T>G p.Ser102Ala Missense 2/8 -
19-41386420-A-G CYP2A7 c.304T>C p.Ser102Pro Missense 2/8 -
2-49191041-C-T FSHR c.919G>A p.Ala307Thr Missense 10/10 -
2-21250914-G-A APOB c.1853C>T p.Ala618Val Missense 14/29 -
5-7889238-A-G MTRR c.1177A>G p.Ser393Gly Missense 9/15 -
2-21235475-T-A APOB c.4265A>T p.Tyr1422Phe Missense 26/29 -
2-21235475-T-C APOB c.4265A>G p.Tyr1422Cys Missense 26/29 -
15-28230318-C-T OCA2 c.1256G>A p.Arg419Gln Missense 13/24 -
19-15996773-T-G CYP4F2 c.1076A>C p.Gln359Pro Missense 9/13 -
17-37864662-C-T ERBB2 c.314C>T p.Thr105Ile Missense 3/27 -
17-41245471-C-A BRCA1 c.2077G>T p.Asp693Tyr Missense 10/23 -
17-37883558-GG-AC ERBB2 c.3170_3171delGGinsAC p.Gly1057Asp Missense 26/27 -
22-19950203-G-T COMT c.154G>T p.Gly52Cys Missense 3/6 -
6-33289113-G-A DAXX c.439C>T p.Pro147Ser Missense 3/8 -
6-33286975-TGA-AAC DAXX c.1960_1962delTCAinsAAC p.Ser654Asn Missense 7/8 -
19-49519905-A-G LHB c.82T>C p.Trp28Arg Missense 2/3 -
17-7906519-G-T GUCY2D c.154G>T p.Ala52Ser Missense 2/20 -
11-113283477-A-G DRD2 c.939T>C p.His313His Synonymous 7/8 -
5-7900042-G-C MTRR c.1968G>C p.Met656Ile Missense 15/15 -
6-46563817-A-G CYP39A1 c.912T>C p.Asn304Asn Synonymous 8/12 -
13-110435231-C-T IRS2 c.3170G>A p.Gly1057Asp Missense 1/2 -
10-96745824-T-C CYP2C9 c.1184T>C p.Leu395Pro Missense 8/9 -
14-21790040-G-T RPGRIP1 c.1639G>T p.Ala547Ser Missense 13/24 -
1-55524237-G-A PCSK9 c.1420G>A p.Val474Ile Missense 9/12 -
17-5485367-A-T NLRP1 c.464T>A p.Leu155His Missense 3/17 -
4-102751220-A-G BANK1 c.326A>G p.Lys109Arg Missense 2/17 -
6-32818774-T-C TAP1 c.1177A>G p.Ile393Val Missense 4/11 -
8-18258338-G-A NAT2 c.825G>A p.Leu275Leu Synonymous 2/2 -
19-41386136-A-T CYP2A7 c.354T>A p.Asp118Glu Missense 3/8 -
2-21232803-T-C APOB c.6937A>G p.Ile2313Val Missense 26/29 -
9-134385435-C-T POMT1 c.751C>T p.Gln251* Nonsense 8/20 -
1-97981395-T-C DPYD c.1627A>G p.Ile543Val Missense 13/23 -
10-50830171-C-T CHAT c.727C>T p.Leu243Phe Missense 5/15 -
3-45814094-G-A SLC6A20 c.596C>T p.Thr199Met Missense 5/11 -
10-96698507-G-C CYP2C9 c.68G>C p.Ser23Thr Missense 1/9 -
17-45361985-G-C ITGB3 c.538G>C p.Gly180Arg Missense 4/15 -
9-107620867-C-T ABCA1 c.656G>A p.Arg219Lys Missense 7/50 -
13-32911463-A-G BRCA2 c.2971A>G p.Asn991Asp Missense 11/27 -
10-96829112-G-A CYP2C8 c.48C>T p.Leu16Leu Synonymous 1/9 -
8-18257942-G-A NAT2 c.429G>A p.Gln143Gln Synonymous 2/2 -
19-16000495-C-T CYP4F2 c.656G>A p.Ser219Asn Missense 7/13 -
16-57007353-C-T CETP c.861C>T p.Phe287Phe Synonymous 9/16 -
3-123512627-G-T MYLK c.62C>A p.Pro21His Missense 4/34 -
6-46563757-A-T CYP39A1 c.972T>A p.Ile324Ile Synonymous 8/12 -
2-21232803-T-A APOB c.6937A>T p.Ile2313Phe Missense 26/29 -
2-21235475-T-G APOB c.4265A>C p.Tyr1422Ser Missense 26/29 -
13-32906480-A-C BRCA2 c.865A>C p.Asn289His Missense 10/27 -
13-32906480-A-G BRCA2 c.865A>G p.Asn289Asp Missense 10/27 -
17-45360730-T-C ITGB3 c.176T>C p.Leu59Pro Missense 3/15 -
9-107589255-C-G ABCA1 c.2311G>C p.Val771Leu Missense 16/50 -
9-107589255-C-T ABCA1 c.2311G>A p.Val771Met Missense 16/50 -
7-99454482-G-C CYP3A43 c.495G>C p.Met165Ile Missense 6/10 -
1-45797505-C-A MUTYH c.1005G>T p.Gln335His Missense 12/16 -
1-45797505-C-G MUTYH c.1005G>C p.Gln335His Missense 12/16 -
3-30686414-A-G TGFBR2 c.338+7A>G - IntronicSNV - 3/7
7-99454482-G-A CYP3A43 c.495G>A p.Met165Ile Missense 6/10 -
19-15789098-A-G CYP4F12 c.226A>G p.Asn76Asp Missense 3/13 -
11-27679378-C-T BDNF c.734G>A p.Arg245Lys Missense 1/1 -
1-182554557-C-T RNASEL c.1385G>A p.Arg462Gln Missense 2/7 -
6-33287161-T-C DAXX c.1936A>G p.Asn646Asp Missense 6/8 -
16-69744919-T-C NQO1 c.785A>G p.Lys262Arg Missense 6/6 -
11-27679690-C-A BDNF c.422G>T p.Cys141Phe Missense 1/1 -
5-7878251-C-T MTRR c.596C>T p.Ser199Leu Missense 5/15 -
16-57012013-G-A CETP c.992G>A p.Gly331Asp Missense 11/16 -
1-11854488-A-G MTHFR c.1274T>C p.Leu425Pro Missense 8/12 -
19-41351257-A-G CYP2A6 c.1103T>C p.Met368Thr Missense 7/9 -
2-21231524-G-A APOB c.8216C>T p.Pro2739Leu Missense 26/29 -
1-47279211-G-C CYP4B1 c.553G>C p.Gly185Arg Missense 5/12 -
9-136301982-C-A ADAMTS13 c.1342C>A p.Gln448Lys Missense 12/29 -
2-21231524-G-T APOB c.8216C>A p.Pro2739Gln Missense 26/29 -
10-96535152-G-A CYP2C19 c.337G>A p.Val113Ile Missense 3/9 -
11-27679537-G-T BDNF c.575C>A p.Thr192Lys Missense 1/1 -
6-46607338-C-A CYP39A1 c.321G>T p.Met107Ile Missense 3/12 -
6-32814975-T-C TAP1 c.2090A>G p.Asp697Gly Missense 10/11 -
17-41245471-C-T BRCA1 c.2077G>A p.Asp693Asn Missense 10/23 -
15-74219546-G-T LOXL1 c.422G>T p.Arg141Leu Missense 1/7 -
19-11221454-T-C LDLR c.1060+7T>C - IntronicSNV - 7/17
9-107646784-T-C ABCA1 c.226A>G p.Asn76Asp Missense 4/50 -
1-226026993-A-G EPHX1 c.668A>G p.Gln223Arg Missense 5/9 -
17-19812541-T-C AKAP10 c.1936A>G p.Ile646Val Missense 14/15 -
15-48807637-C-T FBN1 c.1415G>A p.Cys472Tyr Missense 12/66 -
5-73985215-A-G HEXB c.362A>G p.Lys121Arg Missense 2/14 -
5-127685135-C-T FBN2 c.2893G>A p.Val965Ile Missense 23/65 -
3-123451932-G-T MYLK c.1327C>A p.Pro443Thr Missense 11/34 -
5-127685135-C-G FBN2 c.2893G>C p.Val965Leu Missense 23/65 -