PMID: 30409984

Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics.

Scientific reports
SE John, D Antony, M Eaaswarkhanth, P Hebbar, AM Channanath, D Thomas, S Devarajan, J Tuomilehto, F Al-Mulla, O Alsmadi, TA Thanaraj
2018-11-08

221 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
7-55229255-G-C EGFR c.1562G>C p.Arg521Thr Missense 13/28 -
19-15990431-C-T CYP4F2 c.1297G>A p.Val433Met Missense 11/13 -
1-237048500-A-G MTR c.2756A>G p.Asp919Gly Missense 26/33 -
8-55537779-T-C RP1 c.1337T>C p.Phe446Ser Missense 4/4 -
11-113264331-C-T ANKK1 c.314C>T p.Ser105Phe Missense 2/8 -
4-68619737-T-C GNRHR c.317A>G p.Gln106Arg Missense 1/3 -
1-230845794-A-G AGT c.803T>C p.Met268Thr Missense 2/5 -
14-24730984-C-T TGM1 c.425G>A p.Arg142His Missense 3/15 -
1-94473807-C-T ABCA4 c.5882G>A p.Gly1961Glu Missense 42/50 -
17-37872136-T-C ERBB2 c.1457T>C p.Phe486Ser Missense 12/27 -
17-37879588-A-T ERBB2 c.1963A>T p.Ile655Phe Missense 17/27 -
2-224642493-G-A AP1S3 c.97C>T p.Arg33Trp Missense 2/5 -
10-54531242-G-A MBL2 c.154C>T p.Arg52Cys Missense 1/4 -
12-6442643-C-T TNFRSF1A c.362G>A p.Arg121Gln Missense 4/10 -
12-6443263-G-C TNFRSF1A c.187C>G p.His63Asp Missense 2/10 -
7-75615119-G-A POR c.1621G>A p.Ala541Thr Missense 13/16 -
16-3293257-C-A MEFV c.2230G>T p.Ala744Ser Missense 10/10 -
12-6442643-C-G TNFRSF1A c.362G>C p.Arg121Pro Missense 4/10 -
17-7579533-G-A TP53 c.154C>T p.Gln52* Nonsense 4/11 -
5-148206626-G-T ADRB2 c.232G>T p.Ala78Ser Missense 1/1 -
22-46664412-C-T TTC38 c.35C>T p.Ala12Val Missense 2/14 -
1-100672060-T-A DBT c.1150A>T p.Ser384Cys Missense 9/11 -
1-100672060-T-C DBT c.1150A>G p.Ser384Gly Missense 9/11 -
14-104165753-G-A XRCC3 c.722C>T p.Thr241Met Missense 8/10 -
6-26091207-C-G HFE c.215C>G p.Thr72Ser Missense 2/6 -
10-43596063-GC-AA RET c.230_231delGCinsAA p.Arg77Gln Missense 2/20 -
11-78437262-C-A TENM4 c.3412G>T p.Val1138Leu Missense 23/34 -
4-100263965-C-T ADH1C c.815G>A p.Arg272Gln Missense 6/9 -
11-78437262-C-T TENM4 c.3412G>A p.Val1138Met Missense 23/34 -
2-219135278-C-T PNKD c.20C>T p.Ala7Val Missense 1/3 -
20-52774675-G-C CYP24A1 c.1186C>G p.Arg396Gly Missense 9/12 -
12-53293717-G-A KRT8 c.823C>T p.Arg275Trp Missense 5/8 -
20-52774675-G-A CYP24A1 c.1186C>T p.Arg396Trp Missense 9/12 -
19-41522715-C-A CYP2B6 c.1459C>A p.Arg487Ser Missense 9/9 -
1-94512637-T-C ABCA4 c.2756A>G p.Glu919Gly Missense 19/50 -
19-41522715-C-T CYP2B6 c.1459C>T p.Arg487Cys Missense 9/9 -
11-71148960-G-C DHCR7 c.861C>G p.Asn287Lys Missense 8/9 -
17-37879588-A-G ERBB2 c.1963A>G p.Ile655Val Missense 17/27 -
11-607394-G-C PHRF1 c.1935G>C p.Ala645Ala Synonymous 14/18 -
11-607394-G-A PHRF1 c.1935G>A p.Ala645Ala Synonymous 14/18 -
1-70881670-C-T CTH c.200C>T p.Thr67Ile Missense 2/12 -
3-148714249-G-C GYG1 c.304G>C p.Asp102His Missense 3/8 -
4-100268190-A-C ADH1C c.232T>G - Missense 3/9 -
4-100268190-A-T ADH1C c.232T>A - Missense 3/9 -
5-148206473-G-C ADRB2 c.79G>C p.Glu27Gln Missense 1/1 -
5-148206473-G-T ADRB2 c.79G>T p.Glu27* Nonsense 1/1 -
11-95512060-A-C FAM76B c.754T>G p.Leu252Val Missense 8/10 -
17-48437456-C-T XYLT2 c.2402C>T p.Thr801Ile Missense 11/11 -
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 -
1-31349604-G-A SDC3 c.665C>T p.Ala222Val Missense 3/5 -
10-96827030-C-T CYP2C8 c.416G>A p.Arg139Lys Missense 3/9 -
17-7579472-G-T TP53 c.215C>A p.Pro72His Missense 4/11 -
11-5255582-C-T HBD c.82G>A p.Ala28Thr Missense 1/3 -
17-48437456-C-G XYLT2 c.2402C>G p.Thr801Arg Missense 11/11 -
16-31105945-C-A VKORC1 c.106G>T p.Asp36Tyr Missense 1/3 -
11-113258712-G-T ANKK1 c.106G>T p.Val36Leu Missense 1/8 -
14-24731434-G-T TGM1 c.125C>A p.Ser42Tyr Missense 2/15 -
11-95512060-A-T FAM76B c.754T>A p.Leu252Met Missense 8/10 -
2-21249767-C-T APOB c.2137G>A p.Asp713Asn Missense 15/29 -
5-148207055-A-G ADRB2 c.661A>G p.Arg221Gly Missense 1/1 -
22-42525772-G-T CYP2D6 c.320C>A p.Thr107Asn Missense 2/9 -
22-42525772-G-A CYP2D6 c.320C>T p.Thr107Ile Missense 2/9 -
17-12899902-C-T ELAC2 c.1501G>A p.Ala501Thr Missense 16/23 -
6-75841700-G-T COL12A1 c.5893C>A p.Arg1965Ser Missense 35/66 -
6-75841700-G-A COL12A1 c.5893C>T p.Arg1965Cys Missense 35/66 -
11-88924446-G-A TYR c.896G>A p.Arg299His Missense 2/5 -
18-55373793-C-T ATP8B1 c.208G>A p.Asp70Asn Missense 3/28 -
14-24731002-TACTCATACT-TACTCATACTTACTCATACT TGM1 c.398_407dup p.Tyr136*fs*1 Nonsense 3/15 -
15-100185829-G-A MEF2A c.118G>A p.Asp40Asn Missense 3/10 -
11-95512060-A-G FAM76B c.754T>C p.Leu252Leu Synonymous 8/10 -
10-43609096-T-C RET c.1852T>C p.Cys618Arg Missense 10/20 -
12-121177159-C-T ACADS c.1147C>T p.Arg383Cys Missense 10/10 -
12-110922929-G-T FAM216A c.231G>T p.Leu77Leu Synonymous 3/7 -
18-55373793-C-A ATP8B1 c.208G>T p.Asp70Tyr Missense 3/28 -
15-75012912-A-G CYP1A1 c.1457T>C p.Val486Ala Missense 7/7 -
11-71149939-C-G DHCR7 c.817G>C p.Val273Leu Missense 7/9 -
8-11615928-G-A GATA4 c.1273G>A p.Asp425Asn Missense 7/7 -
10-96702047-C-T CYP2C9 c.430C>T p.Arg144Cys Missense 3/9 -
7-55221759-T-C EGFR c.803T>C p.Met268Thr Missense 7/28 -
2-27730940-T-G GCKR c.1337T>G p.Leu446Arg Missense 15/19 -
11-89017973-C-T TYR c.1217C>T p.Pro406Leu Missense 4/5 -
17-18051447-C-T MYO15A c.6614C>T p.Thr2205Ile Missense 31/66 -
17-5485367-A-T NLRP1 c.464T>A p.Leu155His Missense 3/17 -
3-10331519-C-T GHRL c.152G>A p.Arg51Gln Missense 4/6 -
11-88911937-G-C TYR c.816G>C p.Trp272Cys Missense 1/5 -
12-53298582-C-A KRT8 c.184G>T p.Gly62Cys Missense 1/8 -
10-101829514-C-T CPN1 c.533G>A p.Gly178Asp Missense 3/9 -
9-6620229-G-A GLDC c.425C>T p.Ser142Leu Missense 3/25 -
2-224642579-A-C AP1S3 c.11T>G p.Phe4Cys Missense 2/5 -
11-113270828-G-A ANKK1 c.2137G>A p.Glu713Lys Missense 8/8 -
8-18257854-T-C NAT2 c.341T>C p.Ile114Thr Missense 2/2 -
10-96827016-G-A CYP2C8 c.430C>T p.Arg144Cys Missense 3/9 -
11-88911903-A-G TYR c.782A>G p.Asn261Ser Missense 1/5 -
11-71146639-G-A DHCR7 c.1210C>T p.Arg404Cys Missense 9/9 -
11-71146639-G-C DHCR7 c.1210C>G p.Arg404Gly Missense 9/9 -
11-71146639-G-T DHCR7 c.1210C>A p.Arg404Ser Missense 9/9 -
17-18022476-G-A MYO15A c.362G>A p.Arg121Gln Missense 2/66 -
2-219136133-G-T PNKD c.97G>T p.Ala33Ser Missense 2/3 -
1-11854476-T-G MTHFR c.1286A>C p.Glu429Ala Missense 8/12 -
2-219136133-G-C PNKD c.97G>C p.Ala33Pro Missense 2/3 -
15-75015255-C-G CYP1A1 c.184G>C p.Ala62Pro Missense 2/7 -
16-31105945-C-T VKORC1 c.106G>A p.Asp36Asn Missense 1/3 -
22-46685777-G-A TTC38 c.1297G>A p.Val433Ile Missense 13/14 -
14-94780642-A-T SERPINA6 c.344T>A p.Leu115His Missense 2/5 -
5-148206824-C-T ADRB2 c.430C>T p.Leu144Leu Synonymous 1/1 -
19-23161678-G-A ZNF728 c.227-1766C>T - IntronicSNV - 3/3
2-21250804-T-C APOB c.1963A>G p.Ile655Val Missense 14/29 -
3-124456742-G-A UMPS c.638G>A p.Gly213Asp Missense 3/6 -
3-124456742-G-C UMPS c.638G>C p.Gly213Ala Missense 3/6 -
11-118955746-G-A HMBS c.3G>A p.Met1Ile Missense 1/14 -
2-74759825-G-A HTRA2 c.1195G>A p.Gly399Ser Missense 7/8 -
1-94512602-C-T ABCA4 c.2791G>A p.Val931Met Missense 19/50 -
6-26091179-C-T HFE c.187C>T p.His63Tyr Missense 2/6 -
19-39034444-C-T RYR1 c.11941C>T p.His3981Tyr Missense 87/106 -
12-7053285-A-G C12orf57 c.1A>G p.Met1Val Missense 1/3 -
17-37872138-C-T ERBB2 c.1459C>T p.Arg487Trp Missense 12/27 -
2-38298394-C-T CYP1B1 c.1103G>A p.Arg368His Missense 3/3 -
6-26091179-C-G HFE c.187C>G p.His63Asp Missense 2/6 -
1-24122673-C-T GALE c.956G>A p.Gly319Glu Missense 11/12 -
20-43255233-G-A ADA c.226C>T p.Arg76Trp Missense 4/12 -
2-74760011-G-A HTRA2 c.1276G>A p.Asp426Asn Missense 8/8 -
14-24730981-C-T TGM1 c.428G>A p.Arg143His Missense 3/15 -
2-220075521-C-T ABCB6 c.2168G>A p.Arg723Gln Missense 16/19 -
2-25384048-G-C POMC c.706C>G p.Arg236Gly Missense 4/4 -
10-96798749-T-C CYP2C8 c.1196A>G p.Lys399Arg Missense 8/9 -
8-105440222-A-G DPYS c.1078T>C p.Trp360Arg Missense 6/10 -
5-95751785-T-C PCSK1 c.661A>G p.Asn221Asp Missense 6/14 -
11-126215441-C-G DCPS c.947C>G p.Thr316Arg Missense 6/6 -
11-126215441-C-T DCPS c.947C>T p.Thr316Met Missense 6/6 -
15-49089572-C-G CEP152 c.466G>C p.Gly156Arg Missense 5/26 -
4-155530877-C-T FGG c.571G>A p.Gly191Arg Missense 6/9 -
21-15561623-C-T LIPI c.227G>A p.Cys76Tyr Missense 2/10 -
15-49060434-T-C CEP152 c.2000A>G p.Lys667Arg Missense 15/26 -
7-150690079-C-T NOS3 c.1-813C>T - IntronicSNV - 1/26
6-111901453-G-T TRAF3IP2 c.969C>A p.His323Gln Missense 3/9 -
6-111901453-G-A TRAF3IP2 c.969C>T p.His323His Synonymous 3/9 -
11-71146794-C-T DHCR7 c.1055G>A p.Arg352Gln Missense 9/9 -
7-55220332-CA-TG EGFR c.722_723delCAinsTG p.Thr241Met Missense 6/28 -
2-38298113-T-C CYP1B1 c.1384A>G p.Ile462Val Missense 3/3 -
2-21263900-G-A APOB c.293C>T p.Thr98Ile Missense 4/29 -
15-75012985-T-C CYP1A1 c.1384A>G p.Ile462Val Missense 7/7 -
15-75012985-T-A CYP1A1 c.1384A>T p.Ile462Phe Missense 7/7 -
15-75012985-T-G CYP1A1 c.1384A>C p.Ile462Leu Missense 7/7 -
6-161127501-A-G PLG c.112A>G p.Lys38Glu Missense 2/19 -
11-608403-AGA-TGT PHRF1 c.2944_2946delAGAinsTGT p.Arg982Cys Missense 14/18 -
15-100255034-G-C MEF2A c.*2058G>C - 3-UTRSNV 10/10 -
1-236966887-G-T MTR c.194G>T p.Gly65Val Missense 2/33 -
16-31104739-C-G VKORC1 c.177G>C p.Trp59Cys Missense 2/3 -
6-151674504-G-A AKAP12 c.4978G>A p.Val1660Ile Missense 4/5 -
1-94543391-T-G ABCA4 c.1409A>C p.Glu470Ala Missense 11/50 -
11-116662407-G-C APOA5 c.56C>G p.Ser19Trp Missense 3/4 -
11-116662407-G-A APOA5 c.56C>T p.Ser19Leu Missense 3/4 -
1-236966847-C-T MTR c.154C>T p.Arg52* Nonsense 2/33 -
6-42935188-C-T PEX6 c.1802G>A p.Arg601Gln Missense 8/17 -
17-18051447-C-A MYO15A c.6614C>A p.Thr2205Asn Missense 31/66 -
7-75615006-C-T POR c.1508C>T p.Ala503Val Missense 13/16 -
17-12915009-G-A ELAC2 c.560-1021C>T - IntronicSNV - 6/22
17-12915009-G-C ELAC2 c.560-1021C>G - IntronicSNV - 6/22
1-100696428-G-C DBT c.294C>G p.Ile98Met Missense 4/11 -
1-31347320-G-C SDC3 c.986C>G p.Thr329Arg Missense 4/5 -
1-31347320-G-A SDC3 c.986C>T p.Thr329Ile Missense 4/5 -
17-79767715-G-A GCGR c.118G>A p.Gly40Ser Missense 3/14 -
15-100255034-G-T MEF2A c.*2058G>T - 3-UTRSNV 10/10 -
4-68619629-G-A GNRHR c.425C>T p.Ala142Val Missense 1/3 -
11-113269848-T-C ANKK1 c.1157T>C p.Val386Ala Missense 8/8 -
8-143994266-A-C CYP11B2 c.1157T>G p.Val386Gly Missense 7/9 -
8-143994266-A-G CYP11B2 c.1157T>C p.Val386Ala Missense 7/9 -
15-100230590-G-A MEF2A c.815G>A p.Arg272Gln Missense 7/10 -
15-100230557-A-G MEF2A c.782A>G p.Asn261Ser Missense 7/10 -
15-100255034-G-A MEF2A c.*2058G>A - 3-UTRSNV 10/10 -
2-241808338-CC-GG AGXT c.56_57delCCinsGG p.Ser19Trp Missense 1/11 -
15-75014778-T-C CYP1A1 c.661A>G p.Asn221Asp Missense 2/7 -
1-155261709-G-A PKLR c.1456C>T p.Arg486Trp Missense 10/11 -
5-141694021-G-A SPRY4 c.653C>T p.Ser218Phe Missense 2/2 -
1-155263347-G-A PKLR c.1151C>T p.Thr384Met Missense 8/11 -
7-55229255-G-A EGFR c.1562G>A p.Arg521Lys Missense 13/28 -
22-21134223-G-A SERPIND1 c.623G>A p.Arg208His Missense 2/5 -
10-43620335-C-T RET c.2944C>T p.Arg982Cys Missense 18/20 -
5-141694021-G-T SPRY4 c.653C>A p.Ser218Tyr Missense 2/2 -
7-55229255-G-T EGFR c.1562G>T p.Arg521Met Missense 13/28 -
11-5255582-C-A HBD c.82G>T p.Ala28Ser Missense 1/3 -
1-116224993-G-A VANGL1 c.815G>A p.Arg272Gln Missense 5/8 -
19-41512841-G-T CYP2B6 c.516G>T p.Gln172His Missense 4/9 -
2-241810808-G-C AGXT c.466G>C p.Gly156Arg Missense 4/11 -
2-241810808-G-A AGXT c.466G>A p.Gly156Arg Missense 4/11 -
19-41512841-G-A CYP2B6 c.516G>A p.Gln172Gln Synonymous 4/9 -
8-55537560-C-T RP1 c.1118C>T p.Thr373Ile Missense 4/4 -
4-100260789-T-C ADH1C c.1048A>G p.Ile350Val Missense 8/9 -
4-100260789-T-A ADH1C c.1048A>T p.Ile350Phe Missense 8/9 -
1-114377568-A-G PTPN22 c.1858T>C p.Trp620Arg Missense 14/21 -
11-88911351-G-A TYR c.230G>A p.Arg77Gln Missense 1/5 -
3-164764786-A-C SI c.1730T>G p.Val577Gly Missense 16/48 -
14-24728919-AGA-A TGM1 c.977_978delCT p.Ser326Cysfs*8 Frameshift 6/15 -
1-114399228-C-T PTPN22 c.422G>A p.Arg141His Missense 6/21 -
5-148206885-C-T ADRB2 c.491C>T p.Thr164Ile Missense 1/1 -
3-164764786-A-G SI c.1730T>C p.Val577Ala Missense 16/48 -
14-24728355-A-C TGM1 c.1085T>G p.Leu362Arg Missense 7/15 -
15-100252932-A-T MEF2A c.1450A>T p.Ser484Cys Missense 10/10 -
10-43595968-A-T RET c.135A>T p.Ala45Ala Synonymous 2/20 -
10-43595968-A-C RET c.135A>C p.Ala45Ala Synonymous 2/20 -
10-43595968-A-G RET c.135A>G p.Ala45Ala Synonymous 2/20 -
11-113270150-C-T ANKK1 c.1459C>T p.Pro487Ser Missense 8/8 -
2-21255281-C-T APOB c.1297G>A p.Ala433Thr Missense 10/29 -
17-7579394-G-A TP53 c.293C>T p.Pro98Leu Missense 4/11 -
1-11855200-G-A MTHFR c.986C>T p.Thr329Ile Missense 6/12 -
10-96827297-G-A CYP2C8 c.320C>T p.Thr107Ile Missense 2/9 -
8-143996516-G-T CYP11B2 c.541C>A p.Arg181Arg Synonymous 3/9 -
8-143996516-G-A CYP11B2 c.541C>T p.Arg181Trp Missense 3/9 -
1-70881670-C-A CTH c.200C>A p.Thr67Asn Missense 2/12 -
19-8188812-C-T FBN3 c.2812G>A p.Val938Ile Missense 23/64 -
11-118963216-G-A HMBS c.754G>A p.Ala252Thr Missense 11/14 -
8-11615928-G-T GATA4 c.1273G>T p.Asp425Tyr Missense 7/7 -
11-113270028-T-C ANKK1 c.1337T>C p.Leu446Pro Missense 8/8 -
5-148206440-G-A ADRB2 c.46G>A p.Gly16Arg Missense 1/1 -
11-71146794-C-A DHCR7 c.1055G>T p.Arg352Leu Missense 9/9 -
5-150723155-C-A SLC36A2 c.260G>T p.Gly87Val Missense 3/10 -
1-15772212-C-T CTRC c.760C>T p.Arg254Trp Missense 7/8 -
1-97847960-T-C DPYD c.1963A>G p.Lys655Glu Missense 15/23 -
4-96106322-A-G UNC5C c.2162T>C p.Met721Thr Missense 13/16 -
14-24731434-G-C TGM1 c.125C>G p.Ser42Cys Missense 2/15 -