|
CYP2C19*17
|
rs12248560 |
|
NM_000038.6(APC):c.*1098T>C
|
rs41116 |
|
NM_000038.6(APC):c.*1460C>T
|
rs3733961 |
|
NM_000038.6(APC):c.*1556C>G
|
rs448475 |
|
NM_000038.6(APC):c.*1753G>A
|
rs397768 |
|
NM_000038.6(APC):c.*434C>T
|
rs12189 |
|
NM_000038.6(APC):c.*86C>A
|
rs1804197 |
|
NM_000038.6(APC):c.136-53T>C
|
rs2304793 |
|
NM_000038.6(APC):c.1408+792A>T
|
rs77551834 |
|
NM_000038.6(APC):c.1458T>C (p.Tyr486=)
|
rs2229992 |
|
NM_000038.6(APC):c.1635G>A (p.Ala545=)
|
rs351771 |
|
NM_000038.6(APC):c.1958+8T>C
|
rs62626346 |
|
NM_000038.6(APC):c.423-16A>T
|
rs78919815 |
|
NM_000038.6(APC):c.4479G>A (p.Thr1493=)
|
rs41115 |
|
NM_000038.6(APC):c.5034G>A (p.Gly1678=)
|
rs42427 |
|
NM_000038.6(APC):c.5268T>G (p.Ser1756=)
|
rs866006 |
|
NM_000038.6(APC):c.5465T>A (p.Val1822Asp)
|
rs459552 |
|
NM_000038.6(APC):c.5880G>A (p.Pro1960=)
|
rs465899 |
|
NM_000038.6(APC):c.645+129A>C
|
rs2289485 |
|
NM_000098.3(CPT2):c.1342T>C (p.Phe448Leu)
|
rs74315297 |
|
NM_000106.6(CYP2D6):c.1457G>C (p.Ser486Thr)
|
rs1135840 |
|
NM_000137.3(FAH):c.1021C>T (p.Arg341Trp)
|
rs11555096 |
|
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys)
|
rs1800309 |
|
NM_000152.5(GAA):c.1726G>A (p.Gly576Ser)
|
rs1800307 |
|
NM_000152.5(GAA):c.271G>A (p.Asp91Asn)
|
rs1800299 |
|
NM_000153.4(GALC):c.1685T>C (p.Ile562Thr)
|
rs398607 |
|
NM_000153.4(GALC):c.550C>T (p.Arg184Cys)
|
rs1805078 |
|
NM_000153.4(GALC):c.742G>A (p.Asp248Asn)
|
rs34362748 |
|
NM_000155.2(GALT):c.-119_-116delGTCA
|
rs111033640 |
|
NM_000155.4(GALT):c.652C>T (p.Leu218=)
|
rs2070075 |
|
NM_000155.4(GALT):c.940A>G (p.Asn314Asp)
|
rs2070074 |
|
NM_000169.2(GLA):c.937G>T (p.Asp313Tyr)
|
rs28935490 |
|
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr)
|
rs58037052 |
|
NM_000203.5(IDUA):c.246C>G (p.His82Gln)
|
rs148775298 |
|
NM_000203.5(IDUA):c.965T>A (p.Val322Glu)
|
rs76722191 |
|
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn)
|
rs1805128 |
|
NM_000237.3(LPL):c.106G>A (p.Asp36Asn)
|
rs1801177 |
|
NM_000295.4(SERPINA1):c.1093G>A (p.Asp365Asn)
|
rs143370956 |
|
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile)
|
rs1801466 |
|
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln)
|
rs1126809 |
|
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp)
|
rs1050829 |
|
NM_000441.2(SLC26A4):c.970A>T (p.Asn324Tyr)
|
rs36039758 |
|
NM_000487.6(ARSA):c.*96A>G
|
rs6151429 |
|
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser)
|
rs2071421 |
|
NM_000518.4(HBB):c.68A>C (p.Glu23Ala)
|
rs33936254 |
|
NM_000518.5(HBB):c.262A>C (p.Thr88Pro)
|
rs35553496 |
|
NM_000518.5(HBB):c.50G>A (p.Gly17Asp)
|
rs33962676 |
|
NM_000520.4(HEXA):c.745C>T (p.Arg249Trp)
|
rs138058578 |
|
NM_000520.5(HEXA):c.739C>T (p.Arg247Trp)
|
rs121907970 |
|
NM_000521.4(HEXB):c.1627G>A (p.Ala543Thr)
|
rs121907984 |
|
NM_000558.5(HBA1):c.362C>A (p.Ala121Glu)
|
rs63749927 |
|
NM_000559.2(HBG1):c.227C>T (p.Thr76Ile)
|
rs1061234 |
|
NM_001008216.2(GALE):c.770A>G (p.Lys257Arg)
|
rs28940884 |
|
NM_001072.4(UGT1A6):c.1088C>T (p.Pro363Leu)
|
rs34946978 |
|
NM_001072.4(UGT1A6):c.862-6061C>A
|
rs35350960 |
|
NM_001127701.1(SERPINA1):c.1159G>A (p.Glu387Lys)
|
rs121912712 |
|
NM_001127701.1(SERPINA1):c.1200A>C (p.Glu400Asp)
|
rs1303 |
|
NM_001127701.1(SERPINA1):c.374G>A (p.Arg125His)
|
rs709932 |
|
NM_001127701.1(SERPINA1):c.682G>A (p.Glu228Lys)
|
rs199422208 |
|
NM_001127701.1(SERPINA1):c.77A>C (p.Asp26Ala)
|
rs199422212 |
|
NM_001160179.2(NAT1):c.445G>A (p.Val149Ile)
|
rs4987076 |
|
NM_003742.4(ABCB11):c.3556G>A (p.Glu1186Lys)
|
rs1521808 |
|
NM_005141.4(FGB):c.1433G>A (p.Arg478Lys)
|
rs4220 |
|
NM_005957.4(MTHFR):c.1286A>C (p.Glu429Ala)
|
rs1801131 |
|
NM_005957.4(MTHFR):c.1781G>A (p.Arg594Gln)
|
rs2274976 |
|
NM_005957.4(MTHFR):c.665C>T (p.Ala222Val)
|
rs1801133 |
|
NM_006446.5(SLCO1B1):c.521T>C (p.Val174Ala)
|
rs4149056 |
|
NM_016579.4(CD320):c.256_258GAG[2] (p.Glu88del)
|
rs150384171 |
|
UGT1A1*28
|
rs3064744 |
|
UGT1A1*6
|
rs4148323 |