ClinVar Miner

List of variants studied for syndromic dyslipidemia by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (70):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6807
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HGVS dbSNP gnomAD frequency
NM_000116.5(TAFAZZIN):c.110-17= rs62617809 0.99999
NM_001360.3(DHCR7):c.438T>C (p.Asn146=) rs949177 0.90629
NM_001360.3(DHCR7):c.207T>C (p.Thr69=) rs1790334 0.90380
NM_001360.3(DHCR7):c.1158T>C (p.Asp386=) rs760241 0.85831
NM_001166114.2(PNPLA6):c.1362+8T>C rs620744 0.68799
NM_001360.3(DHCR7):c.189G>A (p.Gln63=) rs1044482 0.59041
NM_001360.3(DHCR7):c.1272C>T (p.Gly424=) rs909217 0.56172
NM_032634.4(PIGO):c.1119+7A>G rs568300 0.52243
NM_000235.4(LIPA):c.112-304G>A rs2246833 0.37475
NM_001166114.2(PNPLA6):c.2818-19A>G rs563826 0.35658
NM_001166114.2(PNPLA6):c.2635-19A>C rs539887 0.35604
NM_001166114.2(PNPLA6):c.1253-6C>T rs574930 0.32237
NM_001360.3(DHCR7):c.626+15G>A rs736894 0.30458
NM_001166114.2(PNPLA6):c.2094G>A (p.Pro698=) rs8107538 0.26133
NM_000431.4(MVK):c.632-18A>G rs2270375 0.25946
NM_000235.4(LIPA):c.46A>C (p.Thr16Pro) rs1051338 0.25399
NM_022436.3(ABCG5):c.1810C>G (p.Gln604Glu) rs6720173 0.21159
NM_032634.4(PIGO):c.2004G>A (p.Leu668=) rs10814196 0.19210
NM_001127178.3(PIGG):c.1989C>T (p.Ala663=) rs13150531 0.19173
NM_001127178.3(PIGG):c.1828T>C (p.Cys610Arg) rs7666425 0.19169
NM_001127178.3(PIGG):c.1743T>C (p.Leu581=) rs7666226 0.19160
NM_001127178.3(PIGG):c.2795T>C (p.Phe932Ser) rs1127410 0.19048
NM_001127178.3(PIGG):c.2642T>C (p.Ile881Thr) rs34623004 0.18986
NM_000431.4(MVK):c.510C>T (p.Asp170=) rs2287218 0.17165
NM_001166114.2(PNPLA6):c.3210+20T>G rs45505598 0.16710
NM_001166114.2(PNPLA6):c.1207G>C (p.Ala403Pro) rs17854645 0.16605
NM_000431.4(MVK):c.769-38C>T rs35191208 0.16489
NM_001127178.3(PIGG):c.2095G>A (p.Val699Ile) rs13114026 0.15552
NM_000235.4(LIPA):c.67G>A (p.Gly23Arg) rs1051339 0.13459
NM_001127178.3(PIGG):c.1373G>A (p.Arg458His) rs13115344 0.13254
NM_000431.4(MVK):c.155G>A (p.Ser52Asn) rs7957619 0.11415
NM_001360.3(DHCR7):c.231C>T (p.Thr77=) rs4316537 0.08662
NM_001166114.2(PNPLA6):c.765C>T (p.Asn255=) rs591040 0.07584
NM_022436.3(ABCG5):c.148C>T (p.Arg50Cys) rs6756629 0.06901
NM_000784.4(CYP27A1):c.438G>A (p.Pro146=) rs692003 0.06494
NM_000431.4(MVK):c.371+8C>T rs67886029 0.05513
NM_000431.4(MVK):c.405G>A (p.Ser135=) rs34368092 0.05306
NM_001346754.2(PIGW):c.376A>G (p.Asn126Asp) rs72818370 0.04955
NM_001127178.3(PIGG):c.2191G>A (p.Val731Ile) rs34916638 0.03501
NM_001166114.2(PNPLA6):c.2547G>A (p.Ser849=) rs522776 0.03285
NM_001166114.2(PNPLA6):c.2071-15C>T rs7250363 0.03172
NM_002641.4(PIGA):c.55C>T (p.Arg19Trp) rs34422225 0.03093
NM_032634.4(PIGO):c.3114C>T (p.Leu1038=) rs2298314 0.02715
NM_001127178.3(PIGG):c.990T>C (p.Ser330=) rs11726338 0.02569
NM_001166114.2(PNPLA6):c.1252+17C>A rs117630756 0.02222
NM_001166114.2(PNPLA6):c.183G>A (p.Val61=) rs35732838 0.01999
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser) rs146934311 0.01744
NM_022436.3(ABCG5):c.785A>G (p.Lys262Arg) rs78070897 0.01647
NM_000784.4(CYP27A1):c.888A>G (p.Gln296=) rs61733619 0.01643
NM_001127178.3(PIGG):c.1967C>T (p.Ala656Val) rs61749092 0.01599
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687 0.01478
NM_001166114.2(PNPLA6):c.181G>C (p.Val61Leu) rs112732576 0.01318
NM_032634.4(PIGO):c.1404A>C (p.Ala468=) rs35287398 0.01214
NM_001166114.2(PNPLA6):c.2706C>T (p.Gly902=) rs113264142 0.01159
NM_022436.3(ABCG5):c.1550C>G (p.Thr517Ser) rs17031672 0.01119
NM_001360.3(DHCR7):c.570C>T (p.Ala190=) rs74909468 0.01097
NM_032634.4(PIGO):c.423C>T (p.Gly141=) rs116248521 0.01090
NM_001166114.2(PNPLA6):c.3094-5C>T rs116788699 0.01066
NM_000431.4(MVK):c.831C>T (p.Arg277=) rs104895353 0.01061
NM_001360.3(DHCR7):c.99-4G>A rs140748737 0.00988
NM_001360.3(DHCR7):c.25A>T (p.Ile9Phe) rs115595829 0.00983
NM_001346754.2(PIGW):c.1020C>T (p.Ala340=) rs74323480 0.00953
NM_001127178.3(PIGG):c.158C>A (p.Ala53Asp) rs28454778 0.00937
NM_001166114.2(PNPLA6):c.1704C>G (p.Pro568=) rs62111288 0.00930
NM_001166114.2(PNPLA6):c.3603G>A (p.Gln1201=) rs112133109 0.00930
NM_001346754.2(PIGW):c.705C>G (p.His235Gln) rs61755368 0.00885
NM_001166114.2(PNPLA6):c.555-20G>A rs183762415 0.00880
NM_001166114.2(PNPLA6):c.2133G>A (p.Leu711=) rs113335442 0.00745
NC_000012.12:g.109573660G>A rs66486014 0.00733
NM_001127178.3(PIGG):c.2069+16C>T rs144533568 0.00716
NM_022436.3(ABCG5):c.775-10G>T rs114549158 0.00688
NM_032634.4(PIGO):c.1120-15C>A rs77344591 0.00631
NM_001360.3(DHCR7):c.1092G>A (p.Thr364=) rs35946774 0.00608
NM_032634.4(PIGO):c.2432G>A (p.Arg811Gln) rs75579358 0.00578
NM_000784.4(CYP27A1):c.921G>A (p.Val307=) rs147975335 0.00559
NM_032634.4(PIGO):c.1473G>C (p.Leu491=) rs76932500 0.00557
NM_000235.4(LIPA):c.894+7A>G rs12255537 0.00545
NM_032634.4(PIGO):c.2040G>C (p.Leu680=) rs41274877 0.00511
NM_000784.4(CYP27A1):c.524C>T (p.Thr175Met) rs2229381 0.00498
NM_001127178.3(PIGG):c.1520C>T (p.Ala507Val) rs144879126 0.00498
NM_001127178.3(PIGG):c.1930G>A (p.Glu644Lys) rs114931121 0.00498
NM_001360.3(DHCR7):c.99-10G>A rs189549129 0.00495
NM_001166114.2(PNPLA6):c.4078G>A (p.Gly1360Ser) rs145178162 0.00490
NM_001360.3(DHCR7):c.549C>T (p.Cys183=) rs115446684 0.00470
NM_001166114.2(PNPLA6):c.1457C>T (p.Pro486Leu) rs145191932 0.00466
NM_022436.3(ABCG5):c.1864A>G (p.Met622Val) rs140374206 0.00461
NM_001166114.2(PNPLA6):c.4073C>T (p.Pro1358Leu) rs116012798 0.00451
NM_001360.3(DHCR7):c.1008C>T (p.His336=) rs75225632 0.00447
NM_001127178.3(PIGG):c.759+16G>A rs148792489 0.00426
NM_001166114.2(PNPLA6):c.414-18C>T rs149630061 0.00421
NM_001166114.2(PNPLA6):c.3954C>T (p.Ala1318=) rs34030828 0.00408
NM_000784.4(CYP27A1):c.673C>T (p.Arg225Cys) rs114768494 0.00403
NM_001166114.2(PNPLA6):c.1005+14G>A rs190321280 0.00371
NM_000116.5(TAFAZZIN):c.873G>A (p.Gly291=) rs35902788 0.00370
NM_000431.4(MVK):c.769-7T>G rs104895331 0.00354
NM_001127178.3(PIGG):c.771G>A (p.Thr257=) rs35496504 0.00322
NM_032634.4(PIGO):c.2268G>A (p.Ala756=) rs149171782 0.00310
NM_001346754.2(PIGW):c.1132G>C (p.Val378Leu) rs79448900 0.00309
NM_000235.4(LIPA):c.1113A>G (p.Glu371=) rs116827211 0.00302
NM_000431.4(MVK):c.226+4A>G rs145732290 0.00297
NM_001360.3(DHCR7):c.1341C>T (p.Asp447=) rs139721775 0.00296
NM_022436.3(ABCG5):c.1763-7T>G rs114780578 0.00288
NM_001127178.3(PIGG):c.2204G>A (p.Arg735Gln) rs138345843 0.00287
NM_022436.3(ABCG5):c.80G>C (p.Gly27Ala) rs56204478 0.00282
NM_032634.4(PIGO):c.461C>A (p.Ala154Asp) rs142562923 0.00277
NM_000431.4(MVK):c.238G>A (p.Val80Ile) rs76914224 0.00259
NM_001360.3(DHCR7):c.399C>T (p.Ala133=) rs147424205 0.00248
NM_001127178.3(PIGG):c.1628C>G (p.Pro543Arg) rs112764712 0.00245
NM_001127178.3(PIGG):c.1114+8A>G rs182522437 0.00233
NM_001127178.3(PIGG):c.1254G>A (p.Thr418=) rs139518242 0.00227
NM_001127178.3(PIGG):c.422C>T (p.Ala141Val) rs116772777 0.00227
NM_000784.4(CYP27A1):c.243G>A (p.Leu81=) rs75897848 0.00225
NM_000784.4(CYP27A1):c.1505C>A (p.Ala502Asp) rs140842830 0.00215
NM_001166114.2(PNPLA6):c.173T>C (p.Val58Ala) rs188353745 0.00215
NM_001166114.2(PNPLA6):c.2937-6C>T rs200932494 0.00214
NM_001127178.3(PIGG):c.750G>A (p.Leu250=) rs145004132 0.00212
NM_000431.4(MVK):c.381G>A (p.Pro127=) rs140397628 0.00208
NM_001127178.3(PIGG):c.1561G>A (p.Val521Met) rs138569779 0.00207
NM_000116.5(TAFAZZIN):c.646+14C>T rs191527230 0.00206
NM_001166114.2(PNPLA6):c.4060C>T (p.Leu1354=) rs150392453 0.00202
NM_022436.3(ABCG5):c.1284C>T (p.Gly428=) rs143972075 0.00198
NM_022436.3(ABCG5):c.293C>G (p.Ala98Gly) rs145164937 0.00190
NM_001360.3(DHCR7):c.321+10C>T rs377108406 0.00189
NM_022436.3(ABCG5):c.1567A>G (p.Ile523Val) rs140899003 0.00189
NM_001127178.3(PIGG):c.724G>A (p.Val242Met) rs144411585 0.00187
NM_001127178.3(PIGG):c.1581C>T (p.Thr527=) rs143989093 0.00179
NM_001166114.2(PNPLA6):c.3234C>T (p.Asn1078=) rs148831568 0.00174
NM_000235.4(LIPA):c.756A>C (p.Ile252=) rs145037134 0.00170
NM_001127178.3(PIGG):c.1114+15C>T rs200262444 0.00170
NM_001127178.3(PIGG):c.1387C>G (p.Leu463Val) rs115766555 0.00164
NM_001166114.2(PNPLA6):c.2359G>A (p.Val787Met) rs145988230 0.00160
NM_001127178.3(PIGG):c.1114+9A>G rs150974506 0.00159
NM_001127178.3(PIGG):c.902-16G>A rs187291662 0.00157
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897 0.00156
NM_002641.4(PIGA):c.1420G>A (p.Gly474Arg) rs61760986 0.00153
NM_022436.3(ABCG5):c.696C>T (p.Val232=) rs72796720 0.00145
NM_022436.3(ABCG5):c.957C>T (p.Ser319=) rs146131711 0.00145
NM_032634.4(PIGO):c.2166G>C (p.Ala722=) rs147101825 0.00143
NM_022436.3(ABCG5):c.50T>G (p.Val17Gly) rs72542427 0.00142
NM_000235.4(LIPA):c.754A>T (p.Ile252Leu) rs147493628 0.00140
NM_000431.4(MVK):c.924C>T (p.Leu308=) rs72648042 0.00140
NM_001127178.3(PIGG):c.2150C>A (p.Ser717Tyr) rs117059276 0.00137
NM_001166114.2(PNPLA6):c.2385C>T (p.His795=) rs143914980 0.00136
NM_001360.3(DHCR7):c.208G>A (p.Gly70Ser) rs144512551 0.00129
NM_001166114.2(PNPLA6):c.1109C>T (p.Pro370Leu) rs200897068 0.00128
NM_022436.3(ABCG5):c.1744G>A (p.Gly582Arg) rs144973796 0.00127
NM_001127178.3(PIGG):c.1451C>T (p.Ser484Leu) rs140156216 0.00123
NM_001127178.3(PIGG):c.998G>A (p.Ser333Asn) rs185712951 0.00122
NM_001127178.3(PIGG):c.2085C>T (p.Ala695=) rs150774662 0.00112
NM_000235.4(LIPA):c.539-17G>A rs41284118 0.00110
NM_022436.3(ABCG5):c.593G>A (p.Arg198Gln) rs141828689 0.00109
NM_022436.3(ABCG5):c.325T>C (p.Phe109Leu) rs201889290 0.00106
NM_000784.4(CYP27A1):c.646+4C>T rs191313794 0.00105
NM_001166114.2(PNPLA6):c.2936+17C>T rs763749201 0.00102
NM_001127178.3(PIGG):c.2215G>A (p.Gly739Arg) rs201269761 0.00096
NM_032634.4(PIGO):c.2124G>A (p.Leu708=) rs201657672 0.00095
NM_001166114.2(PNPLA6):c.315+13C>T rs200676307 0.00094
NM_000784.4(CYP27A1):c.1104G>A (p.Val368=) rs151064520 0.00093
NM_001360.3(DHCR7):c.199G>A (p.Ala67Thr) rs143999854 0.00093
NM_032634.4(PIGO):c.3163T>C (p.Phe1055Leu) rs147316771 0.00093
NM_001166114.2(PNPLA6):c.1485C>T (p.Ile495=) rs199903577 0.00089
NM_001346754.2(PIGW):c.253G>A (p.Gly85Ser) rs117789606 0.00089
NM_001166114.2(PNPLA6):c.1530+11G>A rs184998637 0.00087
NM_001166114.2(PNPLA6):c.3912C>T (p.Asp1304=) rs149871062 0.00087
NM_032634.4(PIGO):c.626A>G (p.Asn209Ser) rs138028827 0.00084
NM_000784.4(CYP27A1):c.703G>A (p.Glu235Lys) rs149897566 0.00083
NM_000784.4(CYP27A1):c.1102G>T (p.Val368Leu) rs145722193 0.00080
NM_001360.3(DHCR7):c.1012G>A (p.Val338Met) rs72954276 0.00078
NM_000235.4(LIPA):c.894G>A (p.Gln298=) rs116928232 0.00075
NM_001360.3(DHCR7):c.1018G>A (p.Val340Ile) rs148081697 0.00075
NM_001127178.3(PIGG):c.1515G>A (p.Trp505Ter) rs150259543 0.00073
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217 0.00072
NM_001166114.2(PNPLA6):c.3252C>T (p.Thr1084=) rs151001271 0.00065
NM_022436.3(ABCG5):c.510C>T (p.Ala170=) rs147061424 0.00065
NM_001166114.2(PNPLA6):c.3495C>T (p.Ser1165=) rs138837774 0.00064
NM_000235.4(LIPA):c.112-6C>T rs141302830 0.00063
NM_022436.3(ABCG5):c.1251G>A (p.Gln417=) rs146801512 0.00063
NM_000235.4(LIPA):c.889A>G (p.Ser297Gly) rs147426329 0.00061
NM_001166114.2(PNPLA6):c.1935C>G (p.Arg645=) rs138023728 0.00061
NM_001127178.3(PIGG):c.1699G>A (p.Ala567Thr) rs141442388 0.00060
NM_000431.4(MVK):c.441C>T (p.Ala147=) rs138342076 0.00059
NM_001127178.3(PIGG):c.2799G>A (p.Thr933=) rs564939051 0.00058
NM_001166114.2(PNPLA6):c.3914-11C>T rs371325894 0.00058
NM_001166114.2(PNPLA6):c.1126C>A (p.Arg376=) rs780122556 0.00057
NM_001360.3(DHCR7):c.1368C>T (p.Gly456=) rs144562471 0.00054
NM_000784.4(CYP27A1):c.276C>T (p.Tyr92=) rs141519183 0.00053
NM_001166114.2(PNPLA6):c.795+3G>A rs375930477 0.00053
NM_001166114.2(PNPLA6):c.924+10C>A rs368958715 0.00053
NM_022436.3(ABCG5):c.1806C>T (p.Phe602=) rs150716811 0.00052
NM_022436.3(ABCG5):c.1870T>C (p.Phe624Leu) rs150401285 0.00047
NM_022436.3(ABCG5):c.235G>A (p.Gly79Arg) rs142125966 0.00047
NM_000235.4(LIPA):c.112-9T>C rs200186130 0.00046
NM_001166114.2(PNPLA6):c.171A>C (p.Gly57=) rs140825810 0.00046
NM_022436.3(ABCG5):c.99G>A (p.Pro33=) rs149907931 0.00046
NM_001127178.3(PIGG):c.24C>G (p.Phe8Leu) rs140860254 0.00044
NM_001166114.2(PNPLA6):c.3914-8G>A rs374861157 0.00044
NM_001127178.3(PIGG):c.2515G>A (p.Ala839Thr) rs375229286 0.00043
NM_000116.5(TAFAZZIN):c.542-20C>T rs373841640 0.00041
NM_001127178.3(PIGG):c.1372C>T (p.Arg458Cys) rs201636801 0.00041
NM_001127178.3(PIGG):c.864T>A (p.Pro288=) rs145528951 0.00041
NM_001166114.2(PNPLA6):c.2854G>C (p.Asp952His) rs10411650 0.00041
NM_001360.3(DHCR7):c.400G>T (p.Val134Leu) rs201466849 0.00041
NM_032634.4(PIGO):c.1277C>A (p.Ala426Asp) rs147098410 0.00040
NM_000235.4(LIPA):c.891C>T (p.Ser297=) rs145066614 0.00039
NM_001166114.2(PNPLA6):c.3003C>T (p.Gly1001=) rs145459571 0.00039
NM_000784.4(CYP27A1):c.958C>T (p.Leu320Phe) rs367855115 0.00038
NM_001360.3(DHCR7):c.582C>T (p.Phe194=) rs150603941 0.00038
NM_022436.3(ABCG5):c.1365C>T (p.Asp455=) rs141016088 0.00038
NM_032634.4(PIGO):c.655+7A>C rs118002220 0.00038
NM_000784.4(CYP27A1):c.1419C>T (p.Val473=) rs138596741 0.00037
NM_000431.4(MVK):c.371+20A>G rs142078694 0.00036
NM_001166114.2(PNPLA6):c.162C>T (p.Ile54=) rs200310048 0.00036
NM_000235.4(LIPA):c.230-4T>C rs778642279 0.00034
NM_000431.4(MVK):c.371+13T>C rs201201471 0.00034
NM_000784.4(CYP27A1):c.891G>T (p.Leu297=) rs144455258 0.00034
NM_022436.3(ABCG5):c.27C>T (p.Pro9=) rs72542428 0.00033
NM_022436.3(ABCG5):c.442C>T (p.Leu148=) rs143444046 0.00033
NM_001127178.3(PIGG):c.2053G>A (p.Gly685Ser) rs200770933 0.00032
NM_001360.3(DHCR7):c.927C>A (p.Gly309=) rs149974099 0.00032
NM_022436.3(ABCG5):c.431T>C (p.Val144Ala) rs376797531 0.00032
NM_032634.4(PIGO):c.969T>G (p.Leu323=) rs142658052 0.00032
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys) rs121908096 0.00031
NM_001346754.2(PIGW):c.106A>G (p.Arg36Gly) rs142067039 0.00031
NM_001360.3(DHCR7):c.126C>T (p.Ser42=) rs150928869 0.00031
NM_001360.3(DHCR7):c.376G>A (p.Val126Ile) rs143587828 0.00030
NM_001127178.3(PIGG):c.902-17T>C rs370538286 0.00029
NM_001360.3(DHCR7):c.28C>G (p.Pro10Ala) rs139166382 0.00029
NM_001360.3(DHCR7):c.988G>A (p.Val330Met) rs139724817 0.00029
NM_022436.3(ABCG5):c.265+10G>A rs140341571 0.00029
NM_001127178.3(PIGG):c.121G>A (p.Gly41Arg) rs148185426 0.00028
NM_000235.4(LIPA):c.1046A>G (p.Asp349Gly) rs149459699 0.00027
NM_000784.4(CYP27A1):c.148G>A (p.Val50Ile) rs149101812 0.00027
NM_001127178.3(PIGG):c.826A>G (p.Ser276Gly) rs373951989 0.00027
NM_001166114.2(PNPLA6):c.316-18C>T rs530792429 0.00027
NM_001360.3(DHCR7):c.139C>T (p.Leu47=) rs140721259 0.00027
NM_022436.3(ABCG5):c.1171C>T (p.Leu391Phe) rs148997255 0.00027
NM_001166114.2(PNPLA6):c.1536C>T (p.Pro512=) rs140389368 0.00026
NM_001166114.2(PNPLA6):c.3699+17G>A rs141831508 0.00026
NM_001360.3(DHCR7):c.586A>G (p.Met196Val) rs200474791 0.00026
NM_002641.4(PIGA):c.525T>C (p.Leu175=) rs61751426 0.00026
NM_022436.3(ABCG5):c.634+3A>G rs374755597 0.00026
NM_000431.4(MVK):c.876C>T (p.Leu292=) rs370301290 0.00025
NM_022436.3(ABCG5):c.1528C>A (p.His510Asn) rs199984328 0.00025
NM_000235.4(LIPA):c.396C>G (p.Leu132=) rs201603238 0.00024
NM_000431.4(MVK):c.618T>A (p.Ala206=) rs370745426 0.00024
NM_000784.4(CYP27A1):c.1564G>A (p.Val522Met) rs151117761 0.00024
NM_001166114.2(PNPLA6):c.3699+9G>A rs201144113 0.00024
NM_001360.3(DHCR7):c.987C>T (p.Pro329=) rs145901607 0.00024
NM_032634.4(PIGO):c.2635G>A (p.Val879Ile) rs139155910 0.00024
NM_032634.4(PIGO):c.794G>A (p.Arg265His) rs200924324 0.00024
NM_000431.4(MVK):c.1128C>T (p.Gly376=) rs147662789 0.00023
NM_001127178.3(PIGG):c.1851G>A (p.Gly617=) rs146030301 0.00023
NM_001166114.2(PNPLA6):c.225A>G (p.Arg75=) rs553088930 0.00023
NM_000235.4(LIPA):c.1009A>G (p.Thr337Ala) rs143793106 0.00022
NM_000431.4(MVK):c.680C>T (p.Ser227Leu) rs201360189 0.00022
NM_001127178.3(PIGG):c.2279G>A (p.Arg760His) rs200170221 0.00022
NM_001166114.2(PNPLA6):c.1056C>T (p.Thr352=) rs759971785 0.00022
NM_000431.4(MVK):c.829C>T (p.Arg277Cys) rs104895321 0.00021
NM_000784.4(CYP27A1):c.609G>A (p.Ser203=) rs148132118 0.00021
NM_001127178.3(PIGG):c.1183G>A (p.Glu395Lys) rs150635196 0.00021
NM_001127178.3(PIGG):c.2059T>C (p.Trp687Arg) rs566226008 0.00021
NM_022436.3(ABCG5):c.1118+13C>G rs371609600 0.00021
NM_000784.4(CYP27A1):c.1028C>T (p.Thr343Met) rs372194079 0.00020
NM_001127178.3(PIGG):c.588G>A (p.Thr196=) rs149455987 0.00020
NM_001166114.2(PNPLA6):c.4024-13C>T rs78093267 0.00020
NM_001346754.2(PIGW):c.1241T>C (p.Ile414Thr) rs201893415 0.00020
NM_002641.4(PIGA):c.273C>T (p.Tyr91=) rs61730284 0.00020
NM_022436.3(ABCG5):c.897C>T (p.Asp299=) rs373237261 0.00020
NM_032634.4(PIGO):c.3103C>T (p.Arg1035Cys) rs376829041 0.00020
NM_000116.5(TAFAZZIN):c.584-7del rs782192927 0.00019
NM_000784.4(CYP27A1):c.1434C>T (p.Gly478=) rs139279260 0.00019
NM_000784.4(CYP27A1):c.789C>T (p.Pro263=) rs143600636 0.00019
NM_001127178.3(PIGG):c.1614+6T>G rs200917876 0.00019
NM_001127178.3(PIGG):c.2798C>T (p.Thr933Met) rs372561507 0.00019
NM_001166114.2(PNPLA6):c.1343C>G (p.Ser448Cys) rs144028775 0.00019
NM_001166114.2(PNPLA6):c.2818-4C>T rs533705093 0.00019
NM_001166114.2(PNPLA6):c.2937-15C>A rs377252767 0.00019
NM_001346754.2(PIGW):c.533C>G (p.Ser178Cys) rs368008171 0.00019
NM_001360.3(DHCR7):c.131T>C (p.Ile44Thr) rs142897396 0.00019
NM_001360.3(DHCR7):c.719A>G (p.Asn240Ser) rs148609143 0.00019
NM_001360.3(DHCR7):c.729C>T (p.Pro243=) rs145284180 0.00019
NM_001360.3(DHCR7):c.99-5C>T rs372886043 0.00019
NM_022436.3(ABCG5):c.1347C>T (p.Ser449=) rs139361486 0.00019
NM_032634.4(PIGO):c.2487G>T (p.Gly829=) rs763623508 0.00019
NM_000431.4(MVK):c.663T>G (p.Ile221Met) rs757289914 0.00018
NM_000431.4(MVK):c.803T>C (p.Ile268Thr) rs104895304 0.00018
NM_001166114.2(PNPLA6):c.3397+6T>C rs764082245 0.00018
NM_001166114.2(PNPLA6):c.714+6T>G rs368637145 0.00018
NM_001346754.2(PIGW):c.1080T>C (p.Asn360=) rs138980777 0.00018
NM_001127178.3(PIGG):c.2070-12A>G rs371725834 0.00017
NM_001166114.2(PNPLA6):c.1048A>G (p.Thr350Ala) rs367652625 0.00017
NM_001166114.2(PNPLA6):c.3094-14C>T rs373699449 0.00017
NM_001166114.2(PNPLA6):c.708A>G (p.Pro236=) rs762180901 0.00017
NM_000784.4(CYP27A1):c.1017+5G>A rs370304209 0.00016
NM_000784.4(CYP27A1):c.1184+9G>T rs200457116 0.00016
NM_000784.4(CYP27A1):c.120C>T (p.Ala40=) rs150389057 0.00016
NM_000784.4(CYP27A1):c.1343G>A (p.Arg448His) rs370868184 0.00016
NM_000784.4(CYP27A1):c.504A>T (p.Pro168=) rs142623022 0.00016
NM_001127178.3(PIGG):c.1614+4C>G rs377462432 0.00016
NM_001127178.3(PIGG):c.2891T>C (p.Ile964Thr) rs141963092 0.00016
NM_001127178.3(PIGG):c.712G>A (p.Glu238Lys) rs781997463 0.00016
NM_001127178.3(PIGG):c.885G>A (p.Ala295=) rs189449890 0.00016
NM_001166114.2(PNPLA6):c.1488C>T (p.Phe496=) rs151146154 0.00016
NM_001166114.2(PNPLA6):c.3398-15C>A rs370069081 0.00016
NM_001166114.2(PNPLA6):c.714+7G>A rs371188270 0.00016
NM_001346754.2(PIGW):c.1478T>C (p.Val493Ala) rs144246473 0.00016
NM_022436.3(ABCG5):c.775-7T>A rs201469377 0.00016
NM_032634.4(PIGO):c.1132C>T (p.Leu378Phe) rs746870615 0.00016
NM_032634.4(PIGO):c.2705C>G (p.Thr902Ser) rs372802683 0.00016
NM_032634.4(PIGO):c.656-8C>T rs187058369 0.00016
NM_000235.4(LIPA):c.966+3A>T rs201242614 0.00015
NM_000784.4(CYP27A1):c.784C>T (p.Arg262Cys) rs778371330 0.00015
NM_001127178.3(PIGG):c.2086G>A (p.Glu696Lys) rs142598041 0.00015
NM_001166114.2(PNPLA6):c.1275C>T (p.Ser425=) rs759189905 0.00015
NM_001166114.2(PNPLA6):c.2922C>A (p.Gly974=) rs767028461 0.00015
NM_001166114.2(PNPLA6):c.3428C>T (p.Thr1143Met) rs142294971 0.00015
NM_022436.3(ABCG5):c.1163C>T (p.Thr388Met) rs149418765 0.00015
NM_000235.4(LIPA):c.662A>G (p.Asp221Gly) rs145163592 0.00014
NM_000431.4(MVK):c.524A>G (p.Asn175Ser) rs138818135 0.00014
NM_000784.4(CYP27A1):c.215T>A (p.Leu72Gln) rs138189735 0.00014
NM_001127178.3(PIGG):c.106G>A (p.Ala36Thr) rs144675581 0.00014
NM_001127178.3(PIGG):c.2552A>C (p.Gln851Pro) rs150802299 0.00014
NM_001166114.2(PNPLA6):c.1398C>T (p.Gly466=) rs146463717 0.00014
NM_001166114.2(PNPLA6):c.3997G>A (p.Ala1333Thr) rs143280550 0.00014
NM_001360.3(DHCR7):c.907G>A (p.Gly303Arg) rs142808899 0.00014
NM_022436.3(ABCG5):c.226G>A (p.Val76Met) rs368811625 0.00014
NM_032634.4(PIGO):c.939+12G>C rs370844887 0.00014
NM_000235.4(LIPA):c.1068A>G (p.Leu356=) rs137932212 0.00013
NM_000235.4(LIPA):c.429-8G>T rs112248349 0.00013
NM_000431.4(MVK):c.877G>A (p.Val293Met) rs104895356 0.00013
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met) rs121908102 0.00013
NM_001127178.3(PIGG):c.2006G>A (p.Arg669His) rs200850789 0.00013
NM_001166114.2(PNPLA6):c.1096G>C (p.Ala366Pro) rs533164657 0.00013
NM_001166114.2(PNPLA6):c.1335C>T (p.Ser445=) rs201130683 0.00013
NM_001166114.2(PNPLA6):c.3712C>G (p.Gln1238Glu) rs143072391 0.00013
NM_001166114.2(PNPLA6):c.3951C>T (p.Asp1317=) rs369490282 0.00013
NM_001346754.2(PIGW):c.909C>T (p.Arg303=) rs199843214 0.00013
NM_002641.4(PIGA):c.716-10A>G rs375371562 0.00013
NM_032634.4(PIGO):c.1309G>A (p.Ala437Thr) rs371896003 0.00013
NM_032634.4(PIGO):c.1891T>G (p.Cys631Gly) rs371800398 0.00013
NM_032634.4(PIGO):c.2188C>G (p.Pro730Ala) rs747418653 0.00013
NM_032634.4(PIGO):c.2197C>T (p.Arg733Trp) rs748093757 0.00013
NM_032634.4(PIGO):c.253C>A (p.Pro85Thr) rs745754359 0.00013
NM_032634.4(PIGO):c.3070-12C>G rs199864376 0.00013
NM_032634.4(PIGO):c.676G>A (p.Val226Met) rs767554501 0.00013
NM_000116.5(TAFAZZIN):c.562G>A (p.Glu188Lys) rs375663114 0.00012
NM_000784.4(CYP27A1):c.578G>A (p.Arg193Gln) rs181649030 0.00012
NM_001127178.3(PIGG):c.1356C>T (p.Ser452=) rs369131902 0.00012
NM_001127178.3(PIGG):c.1591G>A (p.Val531Met) rs143362968 0.00012
NM_001127178.3(PIGG):c.1594G>C (p.Gly532Arg) rs781714196 0.00012
NM_001127178.3(PIGG):c.1948G>A (p.Glu650Lys) rs147598047 0.00012
NM_001127178.3(PIGG):c.2769C>T (p.Tyr923=) rs148579497 0.00012
NM_001166114.2(PNPLA6):c.1222C>T (p.Arg408Cys) rs998008899 0.00012
NM_001166114.2(PNPLA6):c.2381A>G (p.Gln794Arg) rs138366337 0.00012
NM_001166114.2(PNPLA6):c.4024-19G>C rs377319496 0.00012
NM_001360.3(DHCR7):c.1088G>A (p.Arg363His) rs200539324 0.00012
NM_001360.3(DHCR7):c.1410G>A (p.Leu470=) rs375993195 0.00012
NM_001360.3(DHCR7):c.724C>T (p.Arg242Cys) rs80338856 0.00012
NM_002641.4(PIGA):c.1198C>T (p.Arg400Trp) rs772225061 0.00012
NM_000235.4(LIPA):c.676-23T>C rs140488274 0.00011
NM_000431.4(MVK):c.785C>T (p.Ala262Val) rs763106439 0.00011
NM_000431.4(MVK):c.937G>A (p.Ala313Thr) rs371789705 0.00011
NM_000431.4(MVK):c.975C>T (p.Arg325=) rs748947620 0.00011
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His) rs587778778 0.00011
NM_000784.4(CYP27A1):c.355C>T (p.Arg119Trp) rs369294392 0.00011
NM_001127178.3(PIGG):c.1862C>T (p.Ala621Val) rs201186795 0.00011
NM_001127178.3(PIGG):c.2175G>A (p.Ala725=) rs377565197 0.00011
NM_001127178.3(PIGG):c.2232G>A (p.Pro744=) rs376232301 0.00011
NM_001127178.3(PIGG):c.2591C>G (p.Ala864Gly) rs761351190 0.00011
NM_001127178.3(PIGG):c.571-20C>T rs554831796 0.00011
NM_001127178.3(PIGG):c.860C>T (p.Thr287Ile) rs749995536 0.00011
NM_001166114.2(PNPLA6):c.1680C>T (p.Asp560=) rs761103593 0.00011
NM_001166114.2(PNPLA6):c.2939G>C (p.Gly980Ala) rs201902695 0.00011
NM_001166114.2(PNPLA6):c.3691C>G (p.Gln1231Glu) rs375024068 0.00011
NM_001166114.2(PNPLA6):c.4077C>T (p.Pro1359=) rs143060121 0.00011
NM_001166114.2(PNPLA6):c.555-13G>A rs201099946 0.00011
NM_001360.3(DHCR7):c.127G>A (p.Val43Ile) rs200984695 0.00011
NM_001360.3(DHCR7):c.431A>G (p.Gln144Arg) rs776246504 0.00011
NM_001360.3(DHCR7):c.485C>T (p.Ala162Val) rs398123606 0.00011
NM_001360.3(DHCR7):c.765C>T (p.Phe255=) rs200132007 0.00011
NM_022436.3(ABCG5):c.1336C>T (p.Arg446Ter) rs199689137 0.00011
NM_032634.4(PIGO):c.2025G>A (p.Ala675=) rs368209276 0.00011
NM_032634.4(PIGO):c.675C>T (p.Asp225=) rs200656082 0.00011
NM_000431.4(MVK):c.789C>G (p.Pro263=) rs146181903 0.00010
NM_000784.4(CYP27A1):c.1017G>A (p.Thr339=) rs200553205 0.00010
NM_000784.4(CYP27A1):c.1413T>C (p.Tyr471=) rs549032526 0.00010
NM_000784.4(CYP27A1):c.256G>A (p.Val86Met) rs200604732 0.00010
NM_000784.4(CYP27A1):c.379C>T (p.Arg127Trp) rs201114717 0.00010
NM_000784.4(CYP27A1):c.792G>A (p.Val264=) rs144018609 0.00010
NM_001127178.3(PIGG):c.2005C>T (p.Arg669Cys) rs372392424 0.00010
NM_001127178.3(PIGG):c.2732G>A (p.Arg911His) rs373159674 0.00010
NM_001127178.3(PIGG):c.935C>T (p.Thr312Met) rs192047092 0.00010
NM_001166114.2(PNPLA6):c.1357G>A (p.Ala453Thr) rs761591000 0.00010
NM_001166114.2(PNPLA6):c.796-11C>T rs758381371 0.00010
NM_001346754.2(PIGW):c.883C>T (p.Arg295Trp) rs367592728 0.00010
NM_001360.3(DHCR7):c.1269C>T (p.Gly423=) rs145374203 0.00010
NM_001360.3(DHCR7):c.1349G>A (p.Arg450His) rs542266962 0.00010
NM_001360.3(DHCR7):c.1365C>T (p.Tyr455=) rs557097410 0.00010
NM_001360.3(DHCR7):c.615C>T (p.Ser205=) rs561379509 0.00010
NM_002641.4(PIGA):c.1214C>T (p.Ala405Val) rs201361742 0.00010
NM_002641.4(PIGA):c.1403A>G (p.Tyr468Cys) rs761613346 0.00010
NM_022436.3(ABCG5):c.300C>G (p.Ser100=) rs1212418813 0.00010
NM_032634.4(PIGO):c.394A>G (p.Met132Val) rs772678647 0.00010
NM_000235.4(LIPA):c.111+20G>A rs761942544 0.00009
NM_000235.4(LIPA):c.380G>A (p.Arg127Gln) rs544080483 0.00009
NM_000235.4(LIPA):c.539-6T>C rs201898154 0.00009
NM_000431.4(MVK):c.361C>T (p.Arg121Trp) rs368026034 0.00009
NM_000431.4(MVK):c.591C>T (p.His197=) rs104895329 0.00009
NM_000784.4(CYP27A1):c.1184+1G>A rs587778777 0.00009
NM_000784.4(CYP27A1):c.387C>T (p.Asp129=) rs1426398337 0.00009
NM_001127178.3(PIGG):c.1614+8C>T rs377411343 0.00009
NM_001127178.3(PIGG):c.1698C>T (p.Gly566=) rs369968739 0.00009
NM_001127178.3(PIGG):c.2224C>T (p.Arg742Trp) rs114633303 0.00009
NM_001127178.3(PIGG):c.2225G>A (p.Arg742Gln) rs771001595 0.00009
NM_001127178.3(PIGG):c.756G>A (p.Ser252=) rs371090199 0.00009
NM_001127178.3(PIGG):c.759+3G>A rs373571744 0.00009
NM_001127178.3(PIGG):c.948G>A (p.Ala316=) rs753629384 0.00009
NM_001166114.2(PNPLA6):c.1205C>T (p.Ser402Leu) rs372193709 0.00009
NM_001166114.2(PNPLA6):c.3181C>T (p.His1061Tyr) rs753273617 0.00009
NM_001166114.2(PNPLA6):c.3724G>A (p.Ala1242Thr) rs755872517 0.00009
NM_001166114.2(PNPLA6):c.648G>A (p.Pro216=) rs566213812 0.00009
NM_001346754.2(PIGW):c.1293C>T (p.Ala431=) rs138225253 0.00009
NM_001346754.2(PIGW):c.491C>T (p.Thr164Ile) rs543242274 0.00009
NM_001346754.2(PIGW):c.874A>G (p.Ser292Gly) rs148837720 0.00009
NM_001360.3(DHCR7):c.1155C>T (p.Ala385=) rs777517985 0.00009
NM_001360.3(DHCR7):c.1362G>A (p.Lys454=) rs147850435 0.00009
NM_001360.3(DHCR7):c.15G>A (p.Ser5=) rs147038941 0.00009
NM_001360.3(DHCR7):c.278C>T (p.Thr93Met) rs80338853 0.00009
NM_001360.3(DHCR7):c.440G>A (p.Gly147Asp) rs777425801 0.00009
NM_001360.3(DHCR7):c.690G>C (p.Gly230=) rs773393807 0.00009
NM_001360.3(DHCR7):c.735C>T (p.Ile245=) rs12800 0.00009
NM_022436.3(ABCG5):c.112C>G (p.Leu38Val) rs375829761 0.00009
NM_022436.3(ABCG5):c.1166G>A (p.Arg389His) rs119480069 0.00009
NM_022436.3(ABCG5):c.1733A>G (p.Asn578Ser) rs146534033 0.00009
NM_032634.4(PIGO):c.2287G>T (p.Val763Leu) rs146576650 0.00009
NM_000116.5(TAFAZZIN):c.657C>T (p.Asp219=) rs140751478 0.00008
NM_000235.4(LIPA):c.398del (p.Leu132_Ser133insTer) rs756016704 0.00008
NM_000235.4(LIPA):c.483T>C (p.Asn161=) rs369755163 0.00008
NM_000235.4(LIPA):c.654A>G (p.Arg218=) rs773232583 0.00008
NM_000784.4(CYP27A1):c.1297C>T (p.Arg433Trp) rs143002163 0.00008
NM_000784.4(CYP27A1):c.446C>T (p.Thr149Met) rs776992864 0.00008
NM_001127178.3(PIGG):c.1340C>T (p.Thr447Ile) rs199655244 0.00008
NM_001127178.3(PIGG):c.1614+5G>A rs371161635 0.00008
NM_001127178.3(PIGG):c.2261+14G>A rs199874555 0.00008
NM_001127178.3(PIGG):c.902-11C>A rs376258418 0.00008
NM_001166114.2(PNPLA6):c.414-14T>C rs953147743 0.00008
NM_001346754.2(PIGW):c.1438G>A (p.Val480Ile) rs758231021 0.00008
NM_001346754.2(PIGW):c.570T>C (p.Tyr190=) rs371568140 0.00008
NM_001360.3(DHCR7):c.122C>T (p.Ala41Val) rs761265690 0.00008
NM_002641.4(PIGA):c.1188G>A (p.Lys396=) rs754561270 0.00008
NM_022436.3(ABCG5):c.1348G>A (p.Asp450Asn) rs530616214 0.00008
NM_032634.4(PIGO):c.2024C>T (p.Ala675Val) rs567641477 0.00008
NM_032634.4(PIGO):c.2169G>A (p.Ser723=) rs780502790 0.00008
NM_000235.4(LIPA):c.1023C>T (p.Ser341=) rs747984396 0.00007
NM_000235.4(LIPA):c.265C>T (p.Leu89=) rs1359982254 0.00007
NM_000235.4(LIPA):c.372C>G (p.Thr124=) rs532740212 0.00007
NM_000431.4(MVK):c.331G>A (p.Ala111Thr) rs371257609 0.00007
NM_000431.4(MVK):c.346T>C (p.Tyr116His) rs104895382 0.00007
NM_000431.4(MVK):c.942T>A (p.Ser314=) rs201216490 0.00007
NM_000784.4(CYP27A1):c.1114G>A (p.Gly372Arg) rs369969903 0.00007
NM_000784.4(CYP27A1):c.593C>T (p.Ser198Leu) rs563736306 0.00007
NM_000784.4(CYP27A1):c.702C>T (p.Pro234=) rs371636461 0.00007
NM_000784.4(CYP27A1):c.878T>C (p.Met293Thr) rs368735609 0.00007
NM_001127178.3(PIGG):c.1101G>A (p.Pro367=) rs190524353 0.00007
NM_001127178.3(PIGG):c.1253C>T (p.Thr418Met) rs144656165 0.00007
NM_001127178.3(PIGG):c.1290C>T (p.Tyr430=) rs764654528 0.00007
NM_001127178.3(PIGG):c.149C>T (p.Ser50Leu) rs782437034 0.00007
NM_001127178.3(PIGG):c.1849G>A (p.Gly617Arg) rs377765588 0.00007
NM_001127178.3(PIGG):c.2010C>T (p.Ser670=) rs780968547 0.00007
NM_001127178.3(PIGG):c.2879T>C (p.Met960Thr) rs764170430 0.00007
NM_001127178.3(PIGG):c.85C>G (p.Pro29Ala) rs201934688 0.00007
NM_001166114.2(PNPLA6):c.1270C>T (p.Arg424Cys) rs763561590 0.00007
NM_001166114.2(PNPLA6):c.1608+10_1608+15del rs766997730 0.00007
NM_001166114.2(PNPLA6):c.217A>G (p.Arg73Gly) rs781291417 0.00007
NM_001166114.2(PNPLA6):c.3450G>A (p.Gly1150=) rs367675784 0.00007
NM_001166114.2(PNPLA6):c.492C>T (p.Thr164=) rs778359563 0.00007
NM_001346754.2(PIGW):c.798C>T (p.Leu266=) rs368650542 0.00007
NM_001360.3(DHCR7):c.1228G>A (p.Gly410Ser) rs80338862 0.00007
NM_001360.3(DHCR7):c.123G>A (p.Ala41=) rs376263149 0.00007
NM_001360.3(DHCR7):c.1405C>T (p.Arg469Cys) rs148660993 0.00007
NM_001360.3(DHCR7):c.840C>T (p.Tyr280=) rs148468879 0.00007
NM_001360.3(DHCR7):c.855C>T (p.Phe285=) rs781026169 0.00007
NM_002641.4(PIGA):c.384T>C (p.His128=) rs750216116 0.00007
NM_002641.4(PIGA):c.61A>G (p.Ser21Gly) rs375401655 0.00007
NM_022436.3(ABCG5):c.116G>A (p.Gly39Asp) rs371929020 0.00007
NM_022436.3(ABCG5):c.758G>A (p.Arg253His) rs148186696 0.00007
NM_022436.3(ABCG5):c.775-17G>A rs368001054 0.00007
NM_032634.4(PIGO):c.1320C>T (p.Ile440=) rs780469801 0.00007
NM_032634.4(PIGO):c.257A>G (p.Gln86Arg) rs112670103 0.00007
NM_032634.4(PIGO):c.364C>T (p.Arg122Ter) rs375682284 0.00007
NM_032634.4(PIGO):c.590C>T (p.Pro197Leu) rs150734953 0.00007
NM_000116.5(TAFAZZIN):c.567C>T (p.Phe189=) rs141773967 0.00006
NM_000116.5(TAFAZZIN):c.751C>T (p.Arg251Trp) rs372689133 0.00006
NM_000235.4(LIPA):c.1119G>A (p.Glu373=) rs745997462 0.00006
NM_000235.4(LIPA):c.539-3C>T rs376809019 0.00006
NM_000431.4(MVK):c.1000G>A (p.Ala334Thr) rs104895317 0.00006
NM_000431.4(MVK):c.527+10G>A rs368909134 0.00006
NM_000431.4(MVK):c.855C>T (p.Ala285=) rs550696805 0.00006
NM_000431.4(MVK):c.886-15A>T rs367853629 0.00006
NM_000431.4(MVK):c.889C>A (p.Leu297Ile) rs1047311477 0.00006
NM_000784.4(CYP27A1):c.420C>T (p.His140=) rs139415581 0.00006
NM_000784.4(CYP27A1):c.425T>C (p.Leu142Pro) rs369363177 0.00006
NM_000784.4(CYP27A1):c.515C>T (p.Ala172Val) rs200753815 0.00006
NM_000784.4(CYP27A1):c.536A>G (p.Asn179Ser) rs145080072 0.00006
NM_000784.4(CYP27A1):c.546T>G (p.Ile182Met) rs149366157 0.00006
NM_000784.4(CYP27A1):c.712G>A (p.Val238Met) rs199691576 0.00006
NM_000784.4(CYP27A1):c.790G>A (p.Val264Met) rs201500822 0.00006
NM_000784.4(CYP27A1):c.83A>C (p.Lys28Thr) rs371449777 0.00006
NM_001127178.3(PIGG):c.1298A>G (p.Tyr433Cys) rs201146360 0.00006
NM_001127178.3(PIGG):c.1309G>A (p.Val437Met) rs781604169 0.00006
NM_001127178.3(PIGG):c.1321G>A (p.Val441Met) rs202037650 0.00006
NM_001127178.3(PIGG):c.1354A>G (p.Ser452Gly) rs146520766 0.00006
NM_001127178.3(PIGG):c.145C>T (p.Pro49Ser) rs781855613 0.00006
NM_001127178.3(PIGG):c.1550C>T (p.Ala517Val) rs556431524 0.00006
NM_001127178.3(PIGG):c.1620C>T (p.Pro540=) rs374910240 0.00006
NM_001127178.3(PIGG):c.1674G>A (p.Thr558=) rs369365520 0.00006
NM_001127178.3(PIGG):c.1863G>A (p.Ala621=) rs139994131 0.00006
NM_001127178.3(PIGG):c.1911C>T (p.His637=) rs139613601 0.00006
NM_001127178.3(PIGG):c.2038C>T (p.His680Tyr) rs762639311 0.00006
NM_001127178.3(PIGG):c.2168C>T (p.Ala723Val) rs374262167 0.00006
NM_001127178.3(PIGG):c.2231C>T (p.Pro744Leu) rs111545736 0.00006
NM_001127178.3(PIGG):c.241G>T (p.Val81Leu) rs782117894 0.00006
NM_001127178.3(PIGG):c.2512G>A (p.Asp838Asn) rs201165763 0.00006
NM_001127178.3(PIGG):c.2672C>T (p.Thr891Met) rs761022630 0.00006
NM_001127178.3(PIGG):c.2824C>T (p.Arg942Cys) rs532389677 0.00006
NM_001127178.3(PIGG):c.2918C>T (p.Thr973Met) rs764734046 0.00006
NM_001127178.3(PIGG):c.361-10C>T rs782691739 0.00006
NM_001127178.3(PIGG):c.394G>A (p.Asp132Asn) rs144294537 0.00006
NM_001127178.3(PIGG):c.589A>G (p.Arg197Gly) rs151220901 0.00006
NM_001127178.3(PIGG):c.759+10G>A rs371539279 0.00006
NM_001127178.3(PIGG):c.979C>G (p.Pro327Ala) rs773467896 0.00006
NM_001166114.2(PNPLA6):c.1039G>A (p.Gly347Ser) rs760573469 0.00006
NM_001166114.2(PNPLA6):c.1228G>A (p.Val410Ile) rs369465821 0.00006
NM_001166114.2(PNPLA6):c.1312G>A (p.Val438Met) rs752915572 0.00006
NM_001166114.2(PNPLA6):c.1609-6G>T rs754967176 0.00006
NM_001166114.2(PNPLA6):c.1980G>T (p.Val660=) rs142204241 0.00006
NM_001166114.2(PNPLA6):c.240A>C (p.Pro80=) rs143530297 0.00006
NM_001166114.2(PNPLA6):c.2712C>T (p.Gly904=) rs748031664 0.00006
NM_001166114.2(PNPLA6):c.315+8C>T rs1041357827 0.00006
NM_001166114.2(PNPLA6):c.3549T>C (p.Val1183=) rs35770729 0.00006
NM_001166114.2(PNPLA6):c.3634G>A (p.Glu1212Lys) rs138454923 0.00006
NM_001166114.2(PNPLA6):c.3717C>T (p.Tyr1239=) rs748211267 0.00006
NM_001166114.2(PNPLA6):c.4045C>T (p.Arg1349Trp) rs374434303 0.00006
NM_001346754.2(PIGW):c.405T>C (p.Ile135=) rs150604569 0.00006
NM_001346754.2(PIGW):c.646C>T (p.Arg216Ter) rs147622852 0.00006
NM_001360.3(DHCR7):c.1011C>T (p.Ala337=) rs369382960 0.00006
NM_001360.3(DHCR7):c.1210C>T (p.Arg404Cys) rs61757582 0.00006
NM_001360.3(DHCR7):c.1354G>A (p.Ala452Thr) rs140400648 0.00006
NM_001360.3(DHCR7):c.1381C>T (p.Arg461Cys) rs199506852 0.00006
NM_001360.3(DHCR7):c.1406G>A (p.Arg469His) rs201150384 0.00006
NM_001360.3(DHCR7):c.522C>T (p.Phe174=) rs140648594 0.00006
NM_001360.3(DHCR7):c.89G>C (p.Gly30Ala) rs200334114 0.00006
NM_001360.3(DHCR7):c.92G>A (p.Arg31His) rs370307688 0.00006
NM_001360.3(DHCR7):c.957G>A (p.Thr319=) rs200157761 0.00006
NM_022436.3(ABCG5):c.1216C>T (p.Arg406Trp) rs752962014 0.00006
NM_022436.3(ABCG5):c.1324+13G>A rs773653057 0.00006
NM_022436.3(ABCG5):c.1410C>T (p.His470=) rs369709495 0.00006
NM_022436.3(ABCG5):c.1856G>C (p.Arg619Thr) rs374012053 0.00006
NM_022436.3(ABCG5):c.78G>T (p.Glu26Asp) rs144622073 0.00006
NM_022436.3(ABCG5):c.98C>G (p.Pro33Arg) rs778605187 0.00006
NM_032634.4(PIGO):c.1392C>T (p.Ile464=) rs149790500 0.00006
NM_032634.4(PIGO):c.1488G>A (p.Ala496=) rs140004995 0.00006
NM_032634.4(PIGO):c.1662G>A (p.Leu554=) rs369433160 0.00006
NM_032634.4(PIGO):c.1811G>A (p.Arg604His) rs144507866 0.00006
NM_032634.4(PIGO):c.1864C>A (p.Leu622Met) rs149262338 0.00006
NM_032634.4(PIGO):c.2908C>T (p.Arg970Trp) rs748546962 0.00006
NM_032634.4(PIGO):c.3141-15C>T rs368599591 0.00006
NM_032634.4(PIGO):c.581T>G (p.Phe194Cys) rs61755365 0.00006
NM_032634.4(PIGO):c.876G>A (p.Leu292=) rs146908736 0.00006
NM_000116.5(TAFAZZIN):c.110-6C>T rs782099193 0.00005
NM_000235.4(LIPA):c.342C>T (p.Asp114=) rs371133960 0.00005
NM_000235.4(LIPA):c.379C>T (p.Arg127Trp) rs140686447 0.00005
NM_000431.4(MVK):c.1051C>T (p.Pro351Ser) rs773929129 0.00005
NM_000431.4(MVK):c.1067C>T (p.Thr356Met) rs104895342 0.00005
NM_000431.4(MVK):c.1139A>G (p.His380Arg) rs104895324 0.00005
NM_000431.4(MVK):c.394G>A (p.Val132Ile) rs104895336 0.00005
NM_000431.4(MVK):c.644G>A (p.Arg215Gln) rs104895303 0.00005
NM_000784.4(CYP27A1):c.1152G>A (p.Pro384=) rs373428306 0.00005
NM_000784.4(CYP27A1):c.1185-3C>A rs373628198 0.00005
NM_000784.4(CYP27A1):c.151C>T (p.Arg51Trp) rs570721628 0.00005
NM_000784.4(CYP27A1):c.1595G>A (p.Ter532=) rs150091721 0.00005
NM_000784.4(CYP27A1):c.283A>G (p.Met95Val) rs372772968 0.00005
NM_000784.4(CYP27A1):c.447-11C>T rs746577389 0.00005
NM_000784.4(CYP27A1):c.472C>T (p.Arg158Cys) rs774541162 0.00005
NM_000784.4(CYP27A1):c.490C>T (p.Arg164Trp) rs61733615 0.00005
NM_000784.4(CYP27A1):c.547G>A (p.Asp183Asn) rs751280804 0.00005
NM_000784.4(CYP27A1):c.61T>C (p.Cys21Arg) rs751804153 0.00005
NM_000784.4(CYP27A1):c.711C>T (p.Thr237=) rs375163463 0.00005
NM_000784.4(CYP27A1):c.93C>T (p.Ile31=) rs780332239 0.00005
NM_001127178.3(PIGG):c.1547C>T (p.Ser516Leu) rs749178545 0.00005
NM_001127178.3(PIGG):c.1767G>C (p.Leu589=) rs374479393 0.00005
NM_001127178.3(PIGG):c.1898G>A (p.Arg633Gln) rs201475664 0.00005
NM_001127178.3(PIGG):c.2119G>A (p.Val707Ile) rs574857300 0.00005
NM_001127178.3(PIGG):c.2180G>A (p.Gly727Glu) rs201842856 0.00005
NM_001166114.2(PNPLA6):c.1252+20C>T rs773824172 0.00005
NM_001166114.2(PNPLA6):c.1271G>A (p.Arg424His) rs369286019 0.00005
NM_001166114.2(PNPLA6):c.1492G>A (p.Ala498Thr) rs375397452 0.00005
NM_001166114.2(PNPLA6):c.1611C>T (p.Asp537=) rs541798943 0.00005
NM_001166114.2(PNPLA6):c.2454C>T (p.Ser818=) rs764034069 0.00005
NM_001166114.2(PNPLA6):c.2634+20del rs544064102 0.00005
NM_001166114.2(PNPLA6):c.2907T>C (p.Ile969=) rs774909110 0.00005
NM_001166114.2(PNPLA6):c.3109C>G (p.Leu1037Val) rs765313440 0.00005
NM_001166114.2(PNPLA6):c.3281-6G>A rs766015469 0.00005
NM_001166114.2(PNPLA6):c.3375C>T (p.Gly1125=) rs375987938 0.00005
NM_001166114.2(PNPLA6):c.3606A>G (p.Leu1202=) rs200234059 0.00005
NM_001166114.2(PNPLA6):c.4003C>T (p.Pro1335Ser) rs151264767 0.00005
NM_001166114.2(PNPLA6):c.4018G>A (p.Glu1340Lys) rs376402887 0.00005
NM_001166114.2(PNPLA6):c.907T>C (p.Leu303=) rs779108773 0.00005
NM_001166114.2(PNPLA6):c.976C>T (p.Leu326=) rs559393431 0.00005
NM_001346754.2(PIGW):c.886G>T (p.Val296Phe) rs143449294 0.00005
NM_001360.3(DHCR7):c.1099C>T (p.Arg367Cys) rs531038145 0.00005
NM_001360.3(DHCR7):c.223A>T (p.Ile75Phe) rs370748173 0.00005
NM_001360.3(DHCR7):c.288C>T (p.Ala96=) rs745595242 0.00005
NM_001360.3(DHCR7):c.303C>T (p.Thr101=) rs777709295 0.00005
NM_001360.3(DHCR7):c.418G>A (p.Val140Met) rs373908315 0.00005
NM_001360.3(DHCR7):c.571G>A (p.Val191Ile) rs532635888 0.00005
NM_001360.3(DHCR7):c.69C>T (p.Thr23=) rs199798127 0.00005
NM_001360.3(DHCR7):c.964-5C>T rs767108226 0.00005
NM_001360.3(DHCR7):c.964-6C>T rs772882845 0.00005
NM_001360.3(DHCR7):c.976G>T (p.Val326Leu) rs80338859 0.00005
NM_002641.4(PIGA):c.908A>C (p.His303Pro) rs139991272 0.00005
NM_002641.4(PIGA):c.96C>G (p.Thr32=) rs750555194 0.00005
NM_022436.3(ABCG5):c.1180C>T (p.Leu394=) rs771802286 0.00005
NM_022436.3(ABCG5):c.1500A>G (p.Gly500=) rs767584159 0.00005
NM_032634.4(PIGO):c.1288C>G (p.Gln430Glu) rs375108991 0.00005
NM_032634.4(PIGO):c.1554A>G (p.Ala518=) rs373701949 0.00005
NM_032634.4(PIGO):c.2191C>T (p.Arg731Cys) rs148341577 0.00005
NM_032634.4(PIGO):c.2562C>T (p.Arg854=) rs780108725 0.00005
NM_032634.4(PIGO):c.2617C>G (p.Leu873Val) rs542956681 0.00005
NM_032634.4(PIGO):c.268G>A (p.Val90Met) rs142276590 0.00005
NM_000116.5(TAFAZZIN):c.543G>A (p.Gly181=) rs782471244 0.00004
NM_000116.5(TAFAZZIN):c.583+10G>A rs370536414 0.00004
NM_000116.5(TAFAZZIN):c.584-7T>C rs397515745 0.00004
NM_000235.4(LIPA):c.1024G>A (p.Gly342Arg) rs776472526 0.00004
NM_000235.4(LIPA):c.112-17G>A rs368249630 0.00004
NM_000235.4(LIPA):c.193C>T (p.Arg65Ter) rs779712562 0.00004
NM_000235.4(LIPA):c.657A>G (p.Leu219=) rs748624841 0.00004
NM_000235.4(LIPA):c.714G>A (p.Ala238=) rs139282720 0.00004
NM_000235.4(LIPA):c.76C>T (p.Leu26=) rs377437637 0.00004
NM_000235.4(LIPA):c.796G>T (p.Gly266Ter) rs267607218 0.00004
NM_000235.4(LIPA):c.807G>C (p.Glu269Asp) rs746973509 0.00004
NM_000235.4(LIPA):c.823-17A>G rs747852495 0.00004
NM_000235.4(LIPA):c.967-13C>A rs762226885 0.00004
NM_000431.4(MVK):c.1039+7C>T rs370291700 0.00004
NM_000431.4(MVK):c.14T>C (p.Val5Ala) rs141765653 0.00004
NM_000431.4(MVK):c.297C>T (p.Asp99=) rs376323791 0.00004
NM_000431.4(MVK):c.349C>T (p.Leu117=) rs374204972 0.00004
NM_000431.4(MVK):c.442G>A (p.Ala148Thr) rs104895298 0.00004
NM_000431.4(MVK):c.449C>T (p.Ser150Leu) rs747116992 0.00004
NM_000431.4(MVK):c.608T>C (p.Val203Ala) rs104895332 0.00004
NM_000431.4(MVK):c.681G>A (p.Ser227=) rs764412001 0.00004
NM_000431.4(MVK):c.722G>A (p.Arg241His) rs372166675 0.00004
NM_000431.4(MVK):c.78+7_78+10del rs771523264 0.00004
NM_000431.4(MVK):c.863C>T (p.Pro288Leu) rs104895355 0.00004
NM_000431.4(MVK):c.864G>A (p.Pro288=) rs149708247 0.00004
NM_000431.4(MVK):c.874C>T (p.Leu292Phe) rs145586352 0.00004
NM_000784.4(CYP27A1):c.1025A>G (p.Asn342Ser) rs778458082 0.00004
NM_000784.4(CYP27A1):c.1185-15T>C rs117727806 0.00004
NM_000784.4(CYP27A1):c.1477-10T>C rs372756101 0.00004
NM_000784.4(CYP27A1):c.1509G>A (p.Pro503=) rs577558935 0.00004
NM_000784.4(CYP27A1):c.1569C>T (p.Gly523=) rs748616891 0.00004
NM_000784.4(CYP27A1):c.1582C>T (p.Gln528Ter) rs376609492 0.00004
NM_000784.4(CYP27A1):c.159G>A (p.Arg53=) rs750652986 0.00004
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln) rs587778818 0.00004
NM_000784.4(CYP27A1):c.501G>A (p.Lys167=) rs921885901 0.00004
NM_000784.4(CYP27A1):c.545T>C (p.Ile182Thr) rs556745324 0.00004
NM_000784.4(CYP27A1):c.562C>T (p.Arg188Ter) rs188850202 0.00004
NM_000784.4(CYP27A1):c.608C>T (p.Ser203Leu) rs186812403 0.00004
NM_000784.4(CYP27A1):c.613A>G (p.Met205Val) rs147321244 0.00004
NM_000784.4(CYP27A1):c.845-1G>A rs397515353 0.00004
NM_001127178.3(PIGG):c.1047A>G (p.Arg349=) rs1397607565 0.00004
NM_001127178.3(PIGG):c.120C>G (p.His40Gln) rs782126872 0.00004
NM_001127178.3(PIGG):c.1239G>C (p.Leu413=) rs896603363 0.00004
NM_001127178.3(PIGG):c.129G>T (p.Glu43Asp) rs782724528 0.00004
NM_001127178.3(PIGG):c.1418C>T (p.Ser473Phe) rs151167716 0.00004
NM_001127178.3(PIGG):c.1450T>C (p.Ser484Pro) rs757726750 0.00004
NM_001127178.3(PIGG):c.1461C>T (p.His487=) rs893004331 0.00004
NM_001127178.3(PIGG):c.155-4T>G rs1346370829 0.00004
NM_001127178.3(PIGG):c.165T>A (p.Ser55=) rs138983583 0.00004
NM_001127178.3(PIGG):c.1806C>T (p.Asp602=) rs150599490 0.00004
NM_001127178.3(PIGG):c.2064C>T (p.Leu688=) rs762021895 0.00004
NM_001127178.3(PIGG):c.2078A>G (p.His693Arg) rs376309515 0.00004
NM_001127178.3(PIGG):c.2154T>C (p.Pro718=) rs138876025 0.00004
NM_001127178.3(PIGG):c.2237G>A (p.Arg746Gln) rs962499498 0.00004
NM_001127178.3(PIGG):c.2261+19C>T rs373397710 0.00004
NM_001127178.3(PIGG):c.2331A>G (p.Leu777=) rs769617526 0.00004
NM_001127178.3(PIGG):c.23T>C (p.Phe8Ser) rs182168436 0.00004
NM_001127178.3(PIGG):c.2608G>A (p.Ala870Thr) rs139140102 0.00004
NM_001127178.3(PIGG):c.2629A>G (p.Thr877Ala) rs758180926 0.00004
NM_001127178.3(PIGG):c.295A>G (p.Lys99Glu) rs140087355 0.00004
NM_001127178.3(PIGG):c.361-8G>T rs575862015 0.00004
NM_001127178.3(PIGG):c.397G>A (p.Val133Ile) rs782516530 0.00004
NM_001127178.3(PIGG):c.486A>T (p.Gly162=) rs373360708 0.00004
NM_001127178.3(PIGG):c.602A>C (p.Lys201Thr) rs782326684 0.00004
NM_001127178.3(PIGG):c.686G>A (p.Ser229Asn) rs782638280 0.00004
NM_001127178.3(PIGG):c.832G>A (p.Gly278Arg) rs552500897 0.00004
NM_001127178.3(PIGG):c.883G>T (p.Ala295Ser) rs201853289 0.00004
NM_001166114.2(PNPLA6):c.1223G>T (p.Arg408Leu) rs150500586 0.00004
NM_001166114.2(PNPLA6):c.1253-14C>G rs753882799 0.00004
NM_001166114.2(PNPLA6):c.1379C>T (p.Pro460Leu) rs375366178 0.00004
NM_001166114.2(PNPLA6):c.1430C>T (p.Ser477Leu) rs140929996 0.00004
NM_001166114.2(PNPLA6):c.1509G>A (p.Leu503=) rs747793507 0.00004
NM_001166114.2(PNPLA6):c.1609-10G>T rs556461183 0.00004
NM_001166114.2(PNPLA6):c.1626C>T (p.Phe542=) rs778970098 0.00004
NM_001166114.2(PNPLA6):c.2634+4G>C rs751744206 0.00004
NM_001166114.2(PNPLA6):c.2754C>T (p.Cys918=) rs369993445 0.00004
NM_001166114.2(PNPLA6):c.2988C>T (p.Pro996=) rs779282544 0.00004
NM_001166114.2(PNPLA6):c.3094-20G>A rs780285884 0.00004
NM_001166114.2(PNPLA6):c.3122T>C (p.Leu1041Ser) rs1291359628 0.00004
NM_001166114.2(PNPLA6):c.3132G>A (p.Thr1044=) rs557463575 0.00004
NM_001166114.2(PNPLA6):c.3246T>C (p.Asp1082=) rs142676943 0.00004
NM_001166114.2(PNPLA6):c.3280+12C>T rs201782128 0.00004
NM_001166114.2(PNPLA6):c.3300del (p.Arg1101fs) rs756591718 0.00004
NM_001166114.2(PNPLA6):c.3399G>A (p.Ala1133=) rs760279180 0.00004
NM_001166114.2(PNPLA6):c.358G>A (p.Ala120Thr) rs147490830 0.00004
NM_001166114.2(PNPLA6):c.3647C>T (p.Pro1216Leu) rs762047744 0.00004
NM_001166114.2(PNPLA6):c.3753C>T (p.Asn1251=) rs372465203 0.00004
NM_001166114.2(PNPLA6):c.3809G>A (p.Arg1270His) rs150754330 0.00004
NM_001166114.2(PNPLA6):c.3955G>A (p.Gly1319Arg) rs140568070 0.00004
NM_001166114.2(PNPLA6):c.4074G>A (p.Pro1358=) rs372042160 0.00004
NM_001166114.2(PNPLA6):c.617G>A (p.Arg206Gln) rs535890270 0.00004
NM_001166114.2(PNPLA6):c.864G>A (p.Pro288=) rs369082833 0.00004
NM_001166114.2(PNPLA6):c.925-15C>T rs764113115 0.00004
NM_001346754.2(PIGW):c.1065C>T (p.Tyr355=) rs776190334 0.00004
NM_001346754.2(PIGW):c.281T>A (p.Leu94Ter) rs770634248 0.00004
NM_001346754.2(PIGW):c.292T>C (p.Tyr98His) rs144724068 0.00004
NM_001346754.2(PIGW):c.764T>C (p.Ile255Thr) rs199762429 0.00004
NM_001360.3(DHCR7):c.1091C>T (p.Thr364Met) rs567600444 0.00004
NM_001360.3(DHCR7):c.1224C>T (p.Tyr408=) rs777148033 0.00004
NM_001360.3(DHCR7):c.1366G>A (p.Gly456Ser) rs201847193 0.00004
NM_001360.3(DHCR7):c.147C>T (p.Phe49=) rs771419549 0.00004
NM_001360.3(DHCR7):c.159C>T (p.Ile53=) rs752952700 0.00004
NM_001360.3(DHCR7):c.160G>A (p.Val54Ile) rs779222334 0.00004
NM_001360.3(DHCR7):c.1A>G (p.Met1Val) rs104886033 0.00004
NM_001360.3(DHCR7):c.241C>T (p.Arg81Trp) rs775735710 0.00004
NM_001360.3(DHCR7):c.294G>A (p.Gln98=) rs1209981156 0.00004
NM_001360.3(DHCR7):c.545G>A (p.Trp182Ter) rs536394774 0.00004
NM_001360.3(DHCR7):c.723G>T (p.Gly241=) rs369654651 0.00004
NM_001360.3(DHCR7):c.725G>A (p.Arg242His) rs80338857 0.00004
NM_001360.3(DHCR7):c.770C>T (p.Ala257Val) rs770925697 0.00004
NM_001360.3(DHCR7):c.795T>C (p.His265=) rs1472363309 0.00004
NM_002641.4(PIGA):c.1387G>A (p.Ala463Thr) rs774546648 0.00004
NM_002641.4(PIGA):c.198G>A (p.Lys66=) rs762748091 0.00004
NM_002641.4(PIGA):c.456G>A (p.Thr152=) rs776453997 0.00004
NM_002641.4(PIGA):c.877A>G (p.Lys293Glu) rs202161781 0.00004
NM_002641.4(PIGA):c.981+8G>A rs778602062 0.00004
NM_002641.4(PIGA):c.982-3A>C rs370316738 0.00004
NM_022436.3(ABCG5):c.1398C>T (p.Ala466=) rs373514009 0.00004
NM_022436.3(ABCG5):c.1411G>A (p.Val471Ile) rs143402711 0.00004
NM_022436.3(ABCG5):c.143+9G>C rs1377714293 0.00004
NM_022436.3(ABCG5):c.1569C>T (p.Ile523=) rs376969021 0.00004
NM_022436.3(ABCG5):c.1570G>A (p.Val524Ile) rs200839584 0.00004
NM_022436.3(ABCG5):c.238C>A (p.Gln80Lys) rs373819340 0.00004
NM_022436.3(ABCG5):c.392A>G (p.Tyr131Cys) rs569748582 0.00004
NM_022436.3(ABCG5):c.403-8T>C rs776050632 0.00004
NM_022436.3(ABCG5):c.433C>T (p.Arg145Cys) rs866515397 0.00004
NM_022436.3(ABCG5):c.658A>G (p.Thr220Ala) rs781732933 0.00004
NM_022436.3(ABCG5):c.751C>T (p.Gln251Ter) rs140111105 0.00004
NM_022436.3(ABCG5):c.915G>A (p.Thr305=) rs773296588 0.00004
NM_032634.3(PIGO):c.3069+5G>A rs368953604 0.00004
NM_032634.4(PIGO):c.1013G>A (p.Gly338Glu) rs749274989 0.00004
NM_032634.4(PIGO):c.1224G>A (p.Gln408=) rs765426156 0.00004
NM_032634.4(PIGO):c.1298G>A (p.Arg433Gln) rs201911029 0.00004
NM_032634.4(PIGO):c.1456C>T (p.Pro486Ser) rs766397462 0.00004
NM_032634.4(PIGO):c.1487C>T (p.Ala496Val) rs763688561 0.00004
NM_032634.4(PIGO):c.1810C>T (p.Arg604Cys) rs368997214 0.00004
NM_032634.4(PIGO):c.1841C>T (p.Pro614Leu) rs749184960 0.00004
NM_032634.4(PIGO):c.1843C>T (p.Arg615Trp) rs375787674 0.00004
NM_032634.4(PIGO):c.198A>C (p.Arg66=) rs140028855 0.00004
NM_032634.4(PIGO):c.2049C>T (p.Ala683=) rs561156571 0.00004
NM_032634.4(PIGO):c.2053C>T (p.Arg685Cys) rs138547909 0.00004
NM_032634.4(PIGO):c.2198G>A (p.Arg733Gln) rs373305585 0.00004
NM_032634.4(PIGO):c.2421G>A (p.Glu807=) rs573261706 0.00004
NM_032634.4(PIGO):c.2522C>T (p.Thr841Ile) rs371089504 0.00004
NM_032634.4(PIGO):c.2807C>G (p.Ala936Gly) rs375724131 0.00004
NM_032634.4(PIGO):c.2839C>T (p.His947Tyr) rs769624406 0.00004
NM_032634.4(PIGO):c.2989C>T (p.Arg997Trp) rs773926580 0.00004
NM_032634.4(PIGO):c.3002C>T (p.Ala1001Val) rs149391665 0.00004
NM_032634.4(PIGO):c.3096C>T (p.Ser1032=) rs754771965 0.00004
NM_032634.4(PIGO):c.3104G>A (p.Arg1035His) rs763001837 0.00004
NM_032634.4(PIGO):c.3230G>C (p.Ser1077Thr) rs150257961 0.00004
NM_032634.4(PIGO):c.325A>T (p.Arg109Trp) rs144631345 0.00004
NM_032634.4(PIGO):c.339T>G (p.Ile113Met) rs370330559 0.00004
NM_032634.4(PIGO):c.34T>C (p.Trp12Arg) rs779967894 0.00004
NM_032634.4(PIGO):c.365G>A (p.Arg122Gln) rs756043994 0.00004
NM_032634.4(PIGO):c.401G>A (p.Arg134His) rs754686515 0.00004
NM_032634.4(PIGO):c.468C>T (p.His156=) rs374876329 0.00004
NM_032634.4(PIGO):c.575A>G (p.Lys192Arg) rs138004232 0.00004
NM_032634.4(PIGO):c.662G>C (p.Ser221Thr) rs754088095 0.00004
NM_032634.4(PIGO):c.789G>A (p.Val263=) rs750328169 0.00004
NM_032634.4(PIGO):c.900G>A (p.Leu300=) rs575290480 0.00004
NM_032634.4(PIGO):c.90C>T (p.Leu30=) rs145530412 0.00004
NM_000116.5(TAFAZZIN):c.27C>G (p.Phe9Leu) rs1223065368 0.00003
NM_000116.5(TAFAZZIN):c.321G>A (p.Glu107=) rs143525004 0.00003
NM_000116.5(TAFAZZIN):c.371-6C>A rs782195445 0.00003
NM_000116.5(TAFAZZIN):c.48C>G (p.Thr16=) rs397515743 0.00003
NM_000116.5(TAFAZZIN):c.591G>T (p.Gly197=) rs150583937 0.00003
NM_000116.5(TAFAZZIN):c.674C>T (p.Pro225Leu) rs375151766 0.00003
NM_000116.5(TAFAZZIN):c.758G>A (p.Arg253Gln) rs782653725 0.00003
NM_000116.5(TAFAZZIN):c.761C>T (p.Ala254Val) rs200909606 0.00003
NM_000116.5(TAFAZZIN):c.763G>A (p.Glu255Lys) rs782498694 0.00003
NM_000235.4(LIPA):c.111+13A>G rs375237841 0.00003
NM_000235.4(LIPA):c.1110G>A (p.Pro370=) rs1381270290 0.00003
NM_000235.4(LIPA):c.232C>A (p.Pro78Thr) rs903291078 0.00003
NM_000235.4(LIPA):c.42C>T (p.Leu14=) rs1314994550 0.00003
NM_000235.4(LIPA):c.846A>G (p.Thr282=) rs534838107 0.00003
NM_000235.4(LIPA):c.895-7T>C rs756396844 0.00003
NM_000431.4(MVK):c.258G>A (p.Glu86=) rs139299227 0.00003
NM_000431.4(MVK):c.362G>A (p.Arg121Gln) rs371511147 0.00003
NM_000431.4(MVK):c.372-9G>A rs1325994522 0.00003
NM_000431.4(MVK):c.60T>C (p.His20=) rs104895335 0.00003
NM_000431.4(MVK):c.700C>T (p.Leu234=) rs199909816 0.00003
NM_000431.4(MVK):c.78+11G>A rs754766145 0.00003
NM_000431.4(MVK):c.790C>T (p.Leu264Phe) rs104895315 0.00003
NM_000431.4(MVK):c.857C>T (p.Pro286Leu) rs104895379 0.00003
NM_000431.4(MVK):c.974G>A (p.Arg325His) rs374686559 0.00003
NM_000431.4(MVK):c.999C>T (p.Gly333=) rs147904100 0.00003
NM_000784.4(CYP27A1):c.1055C>T (p.Ser352Leu) rs780927834 0.00003
NM_000784.4(CYP27A1):c.1113C>T (p.Ala371=) rs746269951 0.00003
NM_000784.4(CYP27A1):c.1263+1G>A rs397515355 0.00003
NM_000784.4(CYP27A1):c.1286A>G (p.Tyr429Cys) rs774127681 0.00003
NM_000784.4(CYP27A1):c.1348C>T (p.Leu450=) rs1039198612 0.00003
NM_000784.4(CYP27A1):c.1421G>A (p.Arg474Gln) rs121908097 0.00003
NM_000784.4(CYP27A1):c.1556A>G (p.Asn519Ser) rs371510438 0.00003
NM_000784.4(CYP27A1):c.20C>T (p.Ala7Val) rs1364383591 0.00003
NM_000784.4(CYP27A1):c.241C>A (p.Leu81Met) rs370498798 0.00003
NM_000784.4(CYP27A1):c.373C>G (p.Pro125Ala) rs1046723537 0.00003
NM_000784.4(CYP27A1):c.376G>C (p.Val126Leu) rs773892447 0.00003
NM_000784.4(CYP27A1):c.380G>A (p.Arg127Gln) rs376230356 0.00003
NM_000784.4(CYP27A1):c.447-10G>A rs756808196 0.00003
NM_000784.4(CYP27A1):c.473G>A (p.Arg158His) rs761927223 0.00003
NM_000784.4(CYP27A1):c.594G>A (p.Ser198=) rs1487944910 0.00003
NM_000784.4(CYP27A1):c.624C>T (p.Leu208=) rs200060245 0.00003
NM_000784.4(CYP27A1):c.647-4T>C rs1943729690 0.00003
NM_000784.4(CYP27A1):c.674G>A (p.Arg225His) rs753275244 0.00003
NM_000784.4(CYP27A1):c.808C>G (p.Arg270Gly) rs72551318 0.00003
NM_000784.4(CYP27A1):c.809G>A (p.Arg270Gln) rs556715266 0.00003
NM_000784.4(CYP27A1):c.844+20G>A rs200698553 0.00003
NM_000784.4(CYP27A1):c.870C>T (p.Leu290=) rs202136743 0.00003
NM_000784.4(CYP27A1):c.871G>A (p.Glu291Lys) rs190012697 0.00003
NM_000784.4(CYP27A1):c.886C>T (p.Gln296Ter) rs575064188 0.00003
NM_000784.4(CYP27A1):c.967C>T (p.Arg323Trp) rs371603253 0.00003
NM_000784.4(CYP27A1):c.972G>A (p.Glu324=) rs1341913523 0.00003
NM_001127178.3(PIGG):c.114G>A (p.Ala38=) rs782366664 0.00003
NM_001127178.3(PIGG):c.1456G>A (p.Val486Ile) rs747223582 0.00003
NM_001127178.3(PIGG):c.1512G>A (p.Ser504=) rs35851965 0.00003
NM_001127178.3(PIGG):c.1763C>G (p.Ala588Gly) rs767022487 0.00003
NM_001127178.3(PIGG):c.1817C>T (p.Pro606Leu) rs1398469967 0.00003
NM_001127178.3(PIGG):c.1826T>A (p.Leu609His) rs139476674 0.00003
NM_001127178.3(PIGG):c.1900G>C (p.Asp634His) rs145542247 0.00003
NM_001127178.3(PIGG):c.1945C>T (p.Arg649Cys) rs368124174 0.00003
NM_001127178.3(PIGG):c.2392T>C (p.Tyr798His) rs773802422 0.00003
NM_001127178.3(PIGG):c.2536C>T (p.His846Tyr) rs368126393 0.00003
NM_001127178.3(PIGG):c.2644C>T (p.Pro882Ser) rs754519011 0.00003
NM_001127178.3(PIGG):c.2735+19G>A rs769095158 0.00003
NM_001127178.3(PIGG):c.2806G>A (p.Val936Ile) rs921678414 0.00003
NM_001127178.3(PIGG):c.2835A>G (p.Leu945=) rs748675097 0.00003
NM_001127178.3(PIGG):c.513A>G (p.Pro171=) rs1553878837 0.00003
NM_001127178.3(PIGG):c.552C>T (p.Phe184=) rs146375356 0.00003
NM_001127178.3(PIGG):c.559G>C (p.Asp187His) rs752489514 0.00003
NM_001127178.3(PIGG):c.679C>G (p.Pro227Ala) rs140413951 0.00003
NM_001127178.3(PIGG):c.721A>G (p.Ser241Gly) rs201744426 0.00003
NM_001127178.3(PIGG):c.956C>T (p.Ala319Val) rs779032464 0.00003
NM_001166114.2(PNPLA6):c.1088G>A (p.Ser363Asn) rs756600765 0.00003
NM_001166114.2(PNPLA6):c.1392G>A (p.Pro464=) rs927302241 0.00003
NM_001166114.2(PNPLA6):c.1529A>T (p.Glu510Val) rs1017141420 0.00003
NM_001166114.2(PNPLA6):c.1594C>T (p.Arg532Cys) rs745665473 0.00003
NM_001166114.2(PNPLA6):c.1962C>T (p.Ser654=) rs757870828 0.00003
NM_001166114.2(PNPLA6):c.2067C>A (p.Gly689=) rs773178139 0.00003
NM_001166114.2(PNPLA6):c.2181G>A (p.Pro727=) rs1409850827 0.00003
NM_001166114.2(PNPLA6):c.2185-15C>T rs780822241 0.00003
NM_001166114.2(PNPLA6):c.2256C>A (p.Phe752Leu) rs773741175 0.00003
NM_001166114.2(PNPLA6):c.2260+10G>A rs763465479 0.00003
NM_001166114.2(PNPLA6):c.232+14G>A rs199727584 0.00003
NM_001166114.2(PNPLA6):c.2408C>T (p.Thr803Met) rs374789348 0.00003
NM_001166114.2(PNPLA6):c.2952C>T (p.Ile984=) rs767654280 0.00003
NM_001166114.2(PNPLA6):c.3095G>C (p.Ser1032Thr) rs377449787 0.00003
NM_001166114.2(PNPLA6):c.3281-4G>A rs555997335 0.00003
NM_001166114.2(PNPLA6):c.3336G>T (p.Pro1112=) rs570723263 0.00003
NM_001166114.2(PNPLA6):c.3397+11G>T rs370597983 0.00003
NM_001166114.2(PNPLA6):c.3398-11del rs1409345995 0.00003
NM_001166114.2(PNPLA6):c.3409C>T (p.Arg1137Cys) rs587777854 0.00003
NM_001166114.2(PNPLA6):c.3654C>T (p.Ile1218=) rs377515453 0.00003
NM_001166114.2(PNPLA6):c.3655G>A (p.Asp1219Asn) rs370060935 0.00003
NM_001166114.2(PNPLA6):c.372A>G (p.Pro124=) rs772823305 0.00003
NM_001166114.2(PNPLA6):c.3884C>T (p.Thr1295Met) rs758549829 0.00003
NM_001166114.2(PNPLA6):c.3914-9C>T rs200579809 0.00003
NM_001166114.2(PNPLA6):c.3990C>T (p.Pro1330=) rs535388759 0.00003
NM_001166114.2(PNPLA6):c.549C>T (p.Asn183=) rs778438044 0.00003
NM_001166114.2(PNPLA6):c.924+15G>A rs1167944518 0.00003
NM_001346754.2(PIGW):c.1404A>G (p.Thr468=) rs149579850 0.00003
NM_001346754.2(PIGW):c.152C>T (p.Pro51Leu) rs112443711 0.00003
NM_001346754.2(PIGW):c.647G>A (p.Arg216Gln) rs764219730 0.00003
NM_001360.3(DHCR7):c.1076_1077dup (p.Leu360fs) rs1318653026 0.00003
NM_001360.3(DHCR7):c.111G>A (p.Trp37Ter) rs750345068 0.00003
NM_001360.3(DHCR7):c.1336C>T (p.Arg446Trp) rs145043679 0.00003
NM_001360.3(DHCR7):c.1342G>A (p.Glu448Lys) rs80338864 0.00003
NM_001360.3(DHCR7):c.1389C>T (p.Thr463=) rs200477386 0.00003
NM_001360.3(DHCR7):c.198C>T (p.Cys66=) rs775127532 0.00003
NM_001360.3(DHCR7):c.222C>G (p.Asp74Glu) rs183441430 0.00003
NM_001360.3(DHCR7):c.289G>A (p.Ala97Thr) rs150563256 0.00003
NM_001360.3(DHCR7):c.318C>T (p.Phe106=) rs1386646132 0.00003
NM_001360.3(DHCR7):c.324G>A (p.Val108=) rs764443524 0.00003
NM_001360.3(DHCR7):c.336G>A (p.Thr112=) rs759750125 0.00003
NM_001360.3(DHCR7):c.375C>T (p.Tyr125=) rs779401555 0.00003
NM_001360.3(DHCR7):c.3G>A (p.Met1Ile) rs121909767 0.00003
NM_001360.3(DHCR7):c.461C>G (p.Thr154Arg) rs143312232 0.00003
NM_001360.3(DHCR7):c.483C>T (p.Asn161=) rs750628746 0.00003
NM_001360.3(DHCR7):c.546G>A (p.Trp182Ter) rs1032242817 0.00003
NM_001360.3(DHCR7):c.822C>T (p.Asn274=) rs139787408 0.00003
NM_001360.3(DHCR7):c.862G>A (p.Glu288Lys) rs565893436 0.00003
NM_001360.3(DHCR7):c.963+8G>A rs769446742 0.00003
NM_002641.4(PIGA):c.120C>T (p.Asp40=) rs200475470 0.00003
NM_002641.4(PIGA):c.1381C>T (p.Arg461Trp) rs752798208 0.00003
NM_002641.4(PIGA):c.1421G>T (p.Gly474Val) rs142772459 0.00003
NM_002641.4(PIGA):c.1422G>A (p.Gly474=) rs1381482858 0.00003
NM_002641.4(PIGA):c.286G>C (p.Val96Leu) rs146801580 0.00003
NM_002641.4(PIGA):c.924C>T (p.Thr308=) rs144162396 0.00003
NM_002641.4(PIGA):c.92G>A (p.Arg31His) rs758863767 0.00003
NM_022436.3(ABCG5):c.1258G>A (p.Val420Ile) rs747481748 0.00003
NM_022436.3(ABCG5):c.1320T>A (p.Asn440Lys) rs150002815 0.00003
NM_022436.3(ABCG5):c.1462T>C (p.Trp488Arg) rs1299933608 0.00003
NM_022436.3(ABCG5):c.1770A>C (p.Ser590=) rs1280347803 0.00003
NM_022436.3(ABCG5):c.181C>T (p.Arg61Trp) rs766545187 0.00003
NM_022436.3(ABCG5):c.182G>A (p.Arg61Gln) rs149599171 0.00003
NM_022436.3(ABCG5):c.408C>T (p.Asp136=) rs141386201 0.00003
NM_022436.3(ABCG5):c.834G>A (p.Ala278=) rs373182673 0.00003
NM_032634.4(PIGO):c.1020C>T (p.Ile340=) rs777808521 0.00003
NM_032634.4(PIGO):c.1187T>A (p.Leu396Gln) rs146501297 0.00003
NM_032634.4(PIGO):c.1522C>G (p.Leu508Val) rs1398099043 0.00003
NM_032634.4(PIGO):c.157G>A (p.Gly53Arg) rs1361264867 0.00003
NM_032634.4(PIGO):c.158G>A (p.Gly53Glu) rs750495026 0.00003
NM_032634.4(PIGO):c.1776C>G (p.Gly592=) rs752370056 0.00003
NM_032634.4(PIGO):c.1935A>G (p.Thr645=) rs138435332 0.00003
NM_032634.4(PIGO):c.1991G>A (p.Arg664Gln) rs371923881 0.00003
NM_032634.4(PIGO):c.2092G>A (p.Glu698Lys) rs571768342 0.00003
NM_032634.4(PIGO):c.2186C>T (p.Pro729Leu) rs140561049 0.00003
NM_032634.4(PIGO):c.2196C>T (p.Leu732=) rs779088175 0.00003
NM_032634.4(PIGO):c.2205G>T (p.Leu735=) rs565127635 0.00003
NM_032634.4(PIGO):c.2267C>T (p.Ala756Val) rs757452987 0.00003
NM_032634.4(PIGO):c.2431C>T (p.Arg811Trp) rs140470862 0.00003
NM_032634.4(PIGO):c.2679G>A (p.Ser893=) rs376154801 0.00003
NM_032634.4(PIGO):c.2763C>T (p.Phe921=) rs150780733 0.00003
NM_032634.4(PIGO):c.2854+7C>A rs768338180 0.00003
NM_032634.4(PIGO):c.2909G>A (p.Arg970Gln) rs781623319 0.00003
NM_032634.4(PIGO):c.3118G>A (p.Val1040Ile) rs149439295 0.00003
NM_032634.4(PIGO):c.356G>A (p.Arg119Gln) rs753918558 0.00003
NM_032634.4(PIGO):c.54C>T (p.Tyr18=) rs773054712 0.00003
NM_032634.4(PIGO):c.655+6C>T rs901654668 0.00003
NM_032634.4(PIGO):c.816G>A (p.Leu272=) rs760142386 0.00003
NM_032634.4(PIGO):c.942G>A (p.Glu314=) rs764488316 0.00003
NM_000116.5(TAFAZZIN):c.123C>T (p.His41=) rs368329470 0.00002
NM_000116.5(TAFAZZIN):c.13G>T (p.Val5Leu) rs397515737 0.00002
NM_000116.5(TAFAZZIN):c.154G>A (p.Glu52Lys) rs794729166 0.00002
NM_000116.5(TAFAZZIN):c.254G>A (p.Arg85His) rs782196269 0.00002
NM_000116.5(TAFAZZIN):c.270G>A (p.Leu90=) rs781986219 0.00002
NM_000116.5(TAFAZZIN):c.331C>T (p.His111Tyr) rs200405157 0.00002
NM_000116.5(TAFAZZIN):c.351G>A (p.Lys117=) rs782564325 0.00002
NM_000116.5(TAFAZZIN):c.407G>T (p.Gly136Val) rs782240044 0.00002
NM_000116.5(TAFAZZIN):c.437G>T (p.Gly146Val) rs782401618 0.00002
NM_000116.5(TAFAZZIN):c.468C>T (p.Gly156=) rs990648341 0.00002
NM_000116.5(TAFAZZIN):c.469G>A (p.Val157Ile) rs782173851 0.00002
NM_000116.5(TAFAZZIN):c.606G>C (p.Glu202Asp) rs781893396 0.00002
NM_000116.5(TAFAZZIN):c.768C>G (p.Asn256Lys) rs926124671 0.00002
NM_000116.5(TAFAZZIN):c.779T>G (p.Val260Gly) rs782746355 0.00002
NM_000116.5(TAFAZZIN):c.79T>C (p.Leu27=) rs782716787 0.00002
NM_000116.5(TAFAZZIN):c.801G>A (p.Thr267=) rs781792950 0.00002
NM_000235.4(LIPA):c.1077G>A (p.Gln359=) rs538507117 0.00002
NM_000235.4(LIPA):c.12G>T (p.Arg4=) rs773109434 0.00002
NM_000235.4(LIPA):c.256C>T (p.His86Tyr) rs749180806 0.00002
NM_000235.4(LIPA):c.303C>T (p.Asn101=) rs751696669 0.00002
NM_000235.4(LIPA):c.367A>G (p.Asn123Asp) rs771904218 0.00002
NM_000235.4(LIPA):c.538+6T>C rs772236690 0.00002
NM_000235.4(LIPA):c.579G>A (p.Arg193=) rs777978533 0.00002
NM_000235.4(LIPA):c.823-13A>G rs376284950 0.00002
NM_000431.4(MVK):c.1040-10C>T rs374344390 0.00002
NM_000431.4(MVK):c.1156G>A (p.Asp386Asn) rs104895380 0.00002
NM_000431.4(MVK):c.178C>T (p.Arg60Trp) rs202167435 0.00002
NM_000431.4(MVK):c.298G>A (p.Asp100Asn) rs751713601 0.00002
NM_000431.4(MVK):c.418G>A (p.Gly140Arg) rs781108404 0.00002
NM_000431.4(MVK):c.511G>A (p.Gly171Arg) rs104895337 0.00002
NM_000431.4(MVK):c.615T>C (p.Asn205=) rs201069079 0.00002
NM_000431.4(MVK):c.677+18C>T rs768375091 0.00002
NM_000431.4(MVK):c.747C>T (p.Gly249=) rs144788669 0.00002
NM_000431.4(MVK):c.748G>A (p.Val250Ile) rs104895339 0.00002
NM_000431.4(MVK):c.78+8G>A rs766391278 0.00002
NM_000431.4(MVK):c.830G>A (p.Arg277His) rs104895352 0.00002
NM_000431.4(MVK):c.870G>T (p.Gln290His) rs376025633 0.00002
NM_000431.4(MVK):c.927C>T (p.Gly309=) rs762580578 0.00002
NM_000784.4(CYP27A1):c.1029G>A (p.Thr343=) rs771343931 0.00002
NM_000784.4(CYP27A1):c.1072C>T (p.Gln358Ter) rs533885672 0.00002
NM_000784.4(CYP27A1):c.1083G>T (p.Leu361Phe) rs1215745374 0.00002
NM_000784.4(CYP27A1):c.1089G>A (p.Glu363=) rs963559886 0.00002
NM_000784.4(CYP27A1):c.1148T>A (p.Met383Lys) rs539356203 0.00002
NM_000784.4(CYP27A1):c.1298G>A (p.Arg433Gln) rs201107032 0.00002
NM_000784.4(CYP27A1):c.1373C>T (p.Pro458Leu) rs781360671 0.00002
NM_000784.4(CYP27A1):c.1470C>T (p.Leu490=) rs1229201370 0.00002
NM_000784.4(CYP27A1):c.1494G>C (p.Lys498Asn) rs377290147 0.00002
NM_000784.4(CYP27A1):c.315C>T (p.His105=) rs753981913 0.00002
NM_000784.4(CYP27A1):c.322C>T (p.Leu108=) rs192344487 0.00002
NM_000784.4(CYP27A1):c.368A>C (p.Lys123Thr) rs778424069 0.00002
NM_000784.4(CYP27A1):c.36G>T (p.Ala12=) rs764764261 0.00002
NM_000784.4(CYP27A1):c.384C>T (p.Asn128=) rs765555645 0.00002
NM_000784.4(CYP27A1):c.507G>A (p.Ala169=) rs776260288 0.00002
NM_000784.4(CYP27A1):c.518T>C (p.Leu173Pro) rs1378044084 0.00002
NM_000784.4(CYP27A1):c.525G>A (p.Thr175=) rs200506778 0.00002
NM_000784.4(CYP27A1):c.563G>A (p.Arg188Gln) rs754310499 0.00002
NM_000784.4(CYP27A1):c.666C>T (p.Phe222=) rs751692931 0.00002
NM_000784.4(CYP27A1):c.747G>A (p.Gln249=) rs764766872 0.00002
NM_000784.4(CYP27A1):c.850A>T (p.Lys284Ter) rs72551319 0.00002
NM_000784.4(CYP27A1):c.919G>T (p.Val307Leu) rs779794737 0.00002
NM_001127178.3(PIGG):c.1042T>C (p.Leu348=) rs758342970 0.00002
NM_001127178.3(PIGG):c.1053A>G (p.Leu351=) rs138449665 0.00002
NM_001127178.3(PIGG):c.1172T>C (p.Leu391Pro) rs775584448 0.00002
NM_001127178.3(PIGG):c.1208A>C (p.Asn403Thr) rs139826164 0.00002
NM_001127178.3(PIGG):c.1336C>T (p.Leu446Phe) rs144133870 0.00002
NM_001127178.3(PIGG):c.1585G>A (p.Val529Met) rs373234665 0.00002
NM_001127178.3(PIGG):c.1615-8T>G rs746393944 0.00002
NM_001127178.3(PIGG):c.1627C>T (p.Pro543Ser) rs781363662 0.00002
NM_001127178.3(PIGG):c.1677G>A (p.Ala559=) rs373558080 0.00002
NM_001127178.3(PIGG):c.1683C>T (p.His561=) rs376774775 0.00002
NM_001127178.3(PIGG):c.1710C>T (p.Phe570=) rs748412591 0.00002
NM_001127178.3(PIGG):c.1818G>A (p.Pro606=) rs748286066 0.00002
NM_001127178.3(PIGG):c.1872C>G (p.Asp624Glu) rs761459311 0.00002
NM_001127178.3(PIGG):c.1972C>T (p.Pro658Ser) rs757266669 0.00002
NM_001127178.3(PIGG):c.1994del (p.Cys665fs) rs755634856 0.00002
NM_001127178.3(PIGG):c.2041C>T (p.Arg681Trp) rs899791968 0.00002
NM_001127178.3(PIGG):c.2127T>C (p.Phe709=) rs1038061388 0.00002
NM_001127178.3(PIGG):c.2236C>T (p.Arg746Trp) rs1368574950 0.00002
NM_001127178.3(PIGG):c.2241G>A (p.Pro747=) rs111623746 0.00002
NM_001127178.3(PIGG):c.2261+9G>A rs529205382 0.00002
NM_001127178.3(PIGG):c.2502C>T (p.Pro834=) rs759114782 0.00002
NM_001127178.3(PIGG):c.2621G>T (p.Gly874Val) rs1456279365 0.00002
NM_001127178.3(PIGG):c.2685T>C (p.Pro895=) rs368964397 0.00002
NM_001127178.3(PIGG):c.2735+7C>T rs777627148 0.00002
NM_001127178.3(PIGG):c.2770G>A (p.Ala924Thr) rs771098011 0.00002
NM_001127178.3(PIGG):c.2825G>A (p.Arg942His) rs755336453 0.00002
NM_001127178.3(PIGG):c.2883C>T (p.His961=) rs370162435 0.00002
NM_001127178.3(PIGG):c.2886del (p.Leu963fs) rs1395740921 0.00002
NM_001127178.3(PIGG):c.337A>G (p.Thr113Ala) rs782263436 0.00002
NM_001127178.3(PIGG):c.372G>A (p.Thr124=) rs559827237 0.00002
NM_001127178.3(PIGG):c.393C>T (p.Val131=) rs145420533 0.00002
NM_001127178.3(PIGG):c.570+3C>T rs782485164 0.00002
NM_001127178.3(PIGG):c.711C>G (p.Ser237Arg) rs747129987 0.00002
NM_001127178.3(PIGG):c.723C>T (p.Ser241=) rs782415035 0.00002
NM_001127178.3(PIGG):c.831C>T (p.His277=) rs782762358 0.00002
NM_001127178.3(PIGG):c.921G>A (p.Lys307=) rs763398827 0.00002
NM_001166114.2(PNPLA6):c.1005C>T (p.His335=) rs769241929 0.00002
NM_001166114.2(PNPLA6):c.1006-9T>C rs1226486078 0.00002
NM_001166114.2(PNPLA6):c.1181A>G (p.Lys394Arg) rs764509267 0.00002
NM_001166114.2(PNPLA6):c.139C>T (p.Pro47Ser) rs777579622 0.00002
NM_001166114.2(PNPLA6):c.1531-15C>A rs771909480 0.00002
NM_001166114.2(PNPLA6):c.1782C>T (p.Thr594=) rs777094653 0.00002
NM_001166114.2(PNPLA6):c.2028G>A (p.Lys676=) rs779751590 0.00002
NM_001166114.2(PNPLA6):c.2093C>G (p.Pro698Arg) rs2023619514 0.00002
NM_001166114.2(PNPLA6):c.2400C>T (p.Ile800=) rs558598120 0.00002
NM_001166114.2(PNPLA6):c.2405C>T (p.Pro802Leu) rs1009954378 0.00002
NM_001166114.2(PNPLA6):c.2466-15C>G rs752644597 0.00002
NM_001166114.2(PNPLA6):c.2483del (p.Leu828fs) rs756542477 0.00002
NM_001166114.2(PNPLA6):c.2488G>C (p.Gly830Arg) rs1244234383 0.00002
NM_001166114.2(PNPLA6):c.2529C>G (p.Leu843=) rs770688190 0.00002
NM_001166114.2(PNPLA6):c.294T>C (p.Tyr98=) rs750173009 0.00002
NM_001166114.2(PNPLA6):c.2967A>G (p.Ala989=) rs778046695 0.00002
NM_001166114.2(PNPLA6):c.2985C>T (p.Val995=) rs572115607 0.00002
NM_001166114.2(PNPLA6):c.3094-18C>T rs370149053 0.00002
NM_001166114.2(PNPLA6):c.3094-9T>G rs769489792 0.00002
NM_001166114.2(PNPLA6):c.3105G>A (p.Ser1035=) rs779667737 0.00002
NM_001166114.2(PNPLA6):c.315+19G>C rs746162865 0.00002
NM_001166114.2(PNPLA6):c.3304G>A (p.Ala1102Thr) rs1236012815 0.00002
NM_001166114.2(PNPLA6):c.3344A>G (p.Asp1115Gly) rs762434726 0.00002
NM_001166114.2(PNPLA6):c.3354C>T (p.Asp1118=) rs765884981 0.00002
NM_001166114.2(PNPLA6):c.3355G>A (p.Gly1119Arg) rs773955314 0.00002
NM_001166114.2(PNPLA6):c.3439A>G (p.Ile1147Val) rs754198302 0.00002
NM_001166114.2(PNPLA6):c.3480C>T (p.Tyr1160=) rs200236935 0.00002
NM_001166114.2(PNPLA6):c.3496G>A (p.Gly1166Ser) rs142422525 0.00002
NM_001166114.2(PNPLA6):c.3510G>A (p.Leu1170=) rs762829297 0.00002
NM_001166114.2(PNPLA6):c.357C>T (p.Ser119=) rs143109037 0.00002
NM_001166114.2(PNPLA6):c.367C>A (p.Arg123=) rs201894083 0.00002
NM_001166114.2(PNPLA6):c.3688G>A (p.Asp1230Asn) rs747752100 0.00002
NM_001166114.2(PNPLA6):c.3699+19C>T rs749392504 0.00002
NM_001166114.2(PNPLA6):c.3718G>A (p.Gly1240Arg) rs769927461 0.00002
NM_001166114.2(PNPLA6):c.3728T>C (p.Val1243Ala) rs760045636 0.00002
NM_001166114.2(PNPLA6):c.3739T>C (p.Trp1247Arg) rs768125081 0.00002
NM_001166114.2(PNPLA6):c.3744C>G (p.Ser1248Arg) rs1000008449 0.00002
NM_001166114.2(PNPLA6):c.3745C>T (p.Arg1249Cys) rs562876825 0.00002
NM_001166114.2(PNPLA6):c.3746G>A (p.Arg1249His) rs760038069 0.00002
NM_001166114.2(PNPLA6):c.3779G>A (p.Arg1260Gln) rs758242525 0.00002
NM_001166114.2(PNPLA6):c.3816C>T (p.Asp1272=) rs531640488 0.00002
NM_001166114.2(PNPLA6):c.3868C>T (p.Arg1290Trp) rs369159451 0.00002
NM_001166114.2(PNPLA6):c.3901G>A (p.Gly1301Ser) rs1350448949 0.00002
NM_001166114.2(PNPLA6):c.3969G>A (p.Ser1323=) rs141360025 0.00002
NM_001166114.2(PNPLA6):c.3996C>T (p.Gly1332=) rs775120459 0.00002
NM_001166114.2(PNPLA6):c.4024-11T>G rs752929790 0.00002
NM_001166114.2(PNPLA6):c.4051C>T (p.Arg1351Ter) rs370033046 0.00002
NM_001166114.2(PNPLA6):c.4054C>T (p.Arg1352Cys) rs1204274988 0.00002
NM_001166114.2(PNPLA6):c.414-12C>T rs1360560485 0.00002
NM_001166114.2(PNPLA6):c.636C>T (p.Tyr212=) rs747896630 0.00002
NM_001166114.2(PNPLA6):c.649G>A (p.Gly217Ser) rs150620708 0.00002
NM_001166114.2(PNPLA6):c.796-3C>T rs756266429 0.00002
NM_001166114.2(PNPLA6):c.879C>T (p.Ser293=) rs766312635 0.00002
NM_001166114.2(PNPLA6):c.881C>T (p.Ala294Val) rs756180538 0.00002
NM_001346754.2(PIGW):c.1068A>G (p.Val356=) rs781391447 0.00002
NM_001346754.2(PIGW):c.1153C>T (p.Leu385Phe) rs1289299909 0.00002
NM_001346754.2(PIGW):c.134_135del (p.Tyr45fs) rs1279743396 0.00002
NM_001346754.2(PIGW):c.1410C>T (p.His470=) rs773413994 0.00002
NM_001346754.2(PIGW):c.1497G>A (p.Lys499=) rs772409187 0.00002
NM_001346754.2(PIGW):c.186T>C (p.Val62=) rs951359490 0.00002
NM_001346754.2(PIGW):c.34A>G (p.Ser12Gly) rs745967175 0.00002
NM_001346754.2(PIGW):c.398G>A (p.Arg133His) rs997305566 0.00002
NM_001346754.2(PIGW):c.69C>T (p.Thr23=) rs760295760 0.00002
NM_001346754.2(PIGW):c.796C>T (p.Leu266Phe) rs189401029 0.00002
NM_001346754.2(PIGW):c.919A>G (p.Ile307Val) rs773988121 0.00002
NM_001346754.2(PIGW):c.963A>G (p.Gln321=) rs1213857166 0.00002
NM_001346754.2(PIGW):c.994C>T (p.His332Tyr) rs141448923 0.00002
NM_001360.3(DHCR7):c.1005G>A (p.Pro335=) rs768765843 0.00002
NM_001360.3(DHCR7):c.1017C>T (p.Gly339=) rs774757811 0.00002
NM_001360.3(DHCR7):c.1134C>T (p.Ile378=) rs773505265 0.00002
NM_001360.3(DHCR7):c.1337G>A (p.Arg446Gln) rs751604696 0.00002
NM_001360.3(DHCR7):c.1353C>T (p.Cys451=) rs951313798 0.00002
NM_001360.3(DHCR7):c.1369C>T (p.Arg457Trp) rs371873032 0.00002
NM_001360.3(DHCR7):c.1426T>C (p.Ter476Gln) rs775034584 0.00002
NM_001360.3(DHCR7):c.261C>A (p.Ala87=) rs1404109723 0.00002
NM_001360.3(DHCR7):c.279G>A (p.Thr93=) rs774554996 0.00002
NM_001360.3(DHCR7):c.321G>C (p.Gln107His) rs104886040 0.00002
NM_001360.3(DHCR7):c.408T>G (p.Pro136=) rs772940271 0.00002
NM_001360.3(DHCR7):c.507G>A (p.Ser169=) rs138185442 0.00002
NM_001360.3(DHCR7):c.543G>C (p.Leu181=) rs146839126 0.00002
NM_001360.3(DHCR7):c.682C>T (p.Arg228Trp) rs775773057 0.00002
NM_001360.3(DHCR7):c.84G>A (p.Gln28=) rs372855459 0.00002
NM_001360.3(DHCR7):c.964-4C>T rs762215750 0.00002
NM_001360.3(DHCR7):c.964-9G>A rs765926518 0.00002
NM_001360.3(DHCR7):c.99-11C>T rs371964662 0.00002
NM_002641.4(PIGA):c.1139T>C (p.Ile380Thr) rs768749706 0.00002
NM_002641.4(PIGA):c.1188+4T>C rs751261624 0.00002
NM_002641.4(PIGA):c.1199G>A (p.Arg400Gln) rs1921825509 0.00002
NM_002641.4(PIGA):c.1222C>T (p.Pro408Ser) rs1314103115 0.00002
NM_002641.4(PIGA):c.1240G>C (p.Asp414His) rs768524297 0.00002
NM_002641.4(PIGA):c.1382G>A (p.Arg461Gln) rs769061128 0.00002
NM_002641.4(PIGA):c.307G>A (p.Ala103Thr) rs777795093 0.00002
NM_002641.4(PIGA):c.369G>A (p.Thr123=) rs766304305 0.00002
NM_002641.4(PIGA):c.438G>C (p.Gly146=) rs143565005 0.00002
NM_002641.4(PIGA):c.43G>A (p.Ala15Thr) rs369608621 0.00002
NM_002641.4(PIGA):c.517G>A (p.Val173Met) rs752395232 0.00002
NM_002641.4(PIGA):c.616A>G (p.Ile206Val) rs201119959 0.00002
NM_002641.4(PIGA):c.657A>G (p.Pro219=) rs1217291446 0.00002
NM_002641.4(PIGA):c.715+5T>C rs762891698 0.00002
NM_002641.4(PIGA):c.849-19C>T rs780237513 0.00002
NM_006702.5(PNPLA6):c.2T>C (p.Met1Thr) rs765249233 0.00002
NM_022436.3(ABCG5):c.1121G>C (p.Arg374Thr) rs770254073 0.00002
NM_022436.3(ABCG5):c.1324+11A>G rs764721117 0.00002
NM_022436.3(ABCG5):c.1337G>A (p.Arg446Gln) rs536081800 0.00002
NM_022436.3(ABCG5):c.1467G>A (p.Thr489=) rs765708869 0.00002
NM_022436.3(ABCG5):c.282G>A (p.Thr94=) rs756339433 0.00002
NM_022436.3(ABCG5):c.511G>A (p.Val171Ile) rs777411661 0.00002
NM_022436.3(ABCG5):c.599G>A (p.Arg200Gln) rs751809765 0.00002
NM_022436.3(ABCG5):c.804C>T (p.Phe268=) rs554183818 0.00002
NM_022436.3(ABCG5):c.827C>T (p.Thr276Met) rs368800131 0.00002
NM_022436.3(ABCG5):c.861C>T (p.Cys287=) rs530120175 0.00002
NM_022436.3(ABCG5):c.900C>G (p.Phe300Leu) rs748009304 0.00002
NM_032634.4(PIGO):c.1069C>T (p.His357Tyr) rs141121202 0.00002
NM_032634.4(PIGO):c.1127G>A (p.Arg376Gln) rs768552303 0.00002
NM_032634.4(PIGO):c.1459G>A (p.Val487Met) rs762885128 0.00002
NM_032634.4(PIGO):c.1460T>C (p.Val487Ala) rs750242299 0.00002
NM_032634.4(PIGO):c.1619C>A (p.Ala540Glu) rs1488869656 0.00002
NM_032634.4(PIGO):c.1721C>G (p.Pro574Arg) rs558371613 0.00002
NM_032634.4(PIGO):c.1723T>G (p.Phe575Val) rs769087057 0.00002
NM_032634.4(PIGO):c.1749C>G (p.Leu583=) rs377734849 0.00002
NM_032634.4(PIGO):c.17T>C (p.Val6Ala) rs767770355 0.00002
NM_032634.4(PIGO):c.1815T>G (p.Leu605=) rs553734046 0.00002
NM_032634.4(PIGO):c.1831A>G (p.Thr611Ala) rs774281466 0.00002
NM_032634.4(PIGO):c.1918C>T (p.Arg640Cys) rs552540556 0.00002
NM_032634.4(PIGO):c.2066G>A (p.Arg689His) rs771748735 0.00002
NM_032634.4(PIGO):c.236G>A (p.Arg79Gln) rs759013444 0.00002
NM_032634.4(PIGO):c.2383T>C (p.Tyr795His) rs760038249 0.00002
NM_032634.4(PIGO):c.2415G>A (p.Gln805=) rs1419929157 0.00002
NM_032634.4(PIGO):c.2634C>T (p.Pro878=) rs534875041 0.00002
NM_032634.4(PIGO):c.2647+12A>C rs765544018 0.00002
NM_032634.4(PIGO):c.264A>C (p.Ser88=) rs758614814 0.00002
NM_032634.4(PIGO):c.2854+10C>T rs535228820 0.00002
NM_032634.4(PIGO):c.2889G>C (p.Leu963=) rs959471469 0.00002
NM_032634.4(PIGO):c.3070-15C>T rs201927771 0.00002
NM_032634.4(PIGO):c.3070-6C>T rs751434613 0.00002
NM_032634.4(PIGO):c.3113T>G (p.Leu1038Arg) rs761199326 0.00002
NM_032634.4(PIGO):c.3140+13G>C rs374450091 0.00002
NM_032634.4(PIGO):c.3178G>A (p.Val1060Met) rs551920425 0.00002
NM_032634.4(PIGO):c.537T>C (p.Asp179=) rs761993139 0.00002
NM_032634.4(PIGO):c.599A>G (p.Asn200Ser) rs755621448 0.00002
NM_032634.4(PIGO):c.646T>C (p.Tyr216His) rs372754217 0.00002
NM_032634.4(PIGO):c.807C>T (p.Asp269=) rs369714563 0.00002
NM_032634.4(PIGO):c.859G>A (p.Gly287Arg) rs780295527 0.00002
NM_032634.4(PIGO):c.940-9T>C rs1056263001 0.00002
NM_000116.5(TAFAZZIN):c.110-6C>G rs782099193 0.00001
NM_000116.5(TAFAZZIN):c.198G>A (p.Val66=) rs782470471 0.00001
NM_000116.5(TAFAZZIN):c.210G>C (p.Gln70His) rs977521848 0.00001
NM_000116.5(TAFAZZIN):c.231T>C (p.His77=) rs782223969 0.00001
NM_000116.5(TAFAZZIN):c.238+11C>G rs1163786089 0.00001
NM_000116.5(TAFAZZIN):c.253C>T (p.Arg85Cys) rs376769286 0.00001
NM_000116.5(TAFAZZIN):c.403A>G (p.Lys135Glu) rs1557192022 0.00001
NM_000116.5(TAFAZZIN):c.419C>T (p.Thr140Ile) rs727503454 0.00001
NM_000116.5(TAFAZZIN):c.430A>G (p.Met144Val) rs2068413364 0.00001
NM_000116.5(TAFAZZIN):c.460+1G>A rs878853655 0.00001
NM_000116.5(TAFAZZIN):c.460+5G>A rs1325571965 0.00001
NM_000116.5(TAFAZZIN):c.461-16G>C rs782759146 0.00001
NM_000116.5(TAFAZZIN):c.465T>C (p.Asp155=) rs1603381303 0.00001
NM_000116.5(TAFAZZIN):c.507C>T (p.Leu169=) rs782498534 0.00001
NM_000116.5(TAFAZZIN):c.535C>G (p.Pro179Ala) rs397515744 0.00001
NM_000116.5(TAFAZZIN):c.54C>T (p.Thr18=) rs781846964 0.00001
NM_000116.5(TAFAZZIN):c.576C>G (p.Phe192Leu) rs1557193924 0.00001
NM_000116.5(TAFAZZIN):c.593G>A (p.Arg198His) rs371236390 0.00001
NM_000116.5(TAFAZZIN):c.634C>T (p.Leu212=) rs587781186 0.00001
NM_000116.5(TAFAZZIN):c.660C>T (p.Val220=) rs372610945 0.00001
NM_000116.5(TAFAZZIN):c.675G>A (p.Pro225=) rs201046790 0.00001
NM_000116.5(TAFAZZIN):c.689G>A (p.Arg230His) rs782655300 0.00001
NM_000116.5(TAFAZZIN):c.69C>T (p.Val23=) rs782123597 0.00001
NM_000116.5(TAFAZZIN):c.700-5C>T rs782731479 0.00001
NM_000116.5(TAFAZZIN):c.762G>A (p.Ala254=) rs1042313041 0.00001
NM_000116.5(TAFAZZIN):c.771G>A (p.Lys257=) rs368990588 0.00001
NM_000116.5(TAFAZZIN):c.774G>A (p.Ser258=) rs782273950 0.00001
NM_000116.5(TAFAZZIN):c.850C>T (p.Leu284Phe) rs782523340 0.00001
NM_000235.4(LIPA):c.1008G>A (p.Pro336=) rs376895620 0.00001
NM_000235.4(LIPA):c.1026G>A (p.Gly342=) rs550415126 0.00001
NM_000235.4(LIPA):c.1050C>T (p.Val350=) rs1249046123 0.00001
NM_000235.4(LIPA):c.1053C>T (p.Tyr351=) rs754591708 0.00001
NM_000235.4(LIPA):c.1056C>T (p.Asp352=) rs1564748504 0.00001
NM_000235.4(LIPA):c.1070T>C (p.Leu357Pro) rs772684869 0.00001
NM_000235.4(LIPA):c.1106T>C (p.Ile369Thr) rs747214463 0.00001
NM_000235.4(LIPA):c.111+1G>A rs762960877 0.00001
NM_000235.4(LIPA):c.1120C>T (p.His374Tyr) rs367664486 0.00001
NM_000235.4(LIPA):c.1128C>T (p.Asp376=) rs200420117 0.00001
NM_000235.4(LIPA):c.1188G>A (p.Arg396=) rs750001661 0.00001
NM_000235.4(LIPA):c.135A>T (p.Gly45=) rs760789213 0.00001
NM_000235.4(LIPA):c.183G>C (p.Leu61=) rs1843014996 0.00001
NM_000235.4(LIPA):c.229+6G>A rs778866130 0.00001
NM_000235.4(LIPA):c.260G>T (p.Gly87Val) rs587778878 0.00001
NM_000235.4(LIPA):c.279T>C (p.Ser93=) rs1011619050 0.00001
NM_000235.4(LIPA):c.27G>C (p.Val9=) rs768712010 0.00001
NM_000235.4(LIPA):c.288C>T (p.Val96=) rs1842797794 0.00001
NM_000235.4(LIPA):c.294C>G (p.Asn98Lys) rs767688436 0.00001
NM_000235.4(LIPA):c.310C>T (p.Leu104=) rs1040073824 0.00001
NM_000235.4(LIPA):c.318C>T (p.Phe106=) rs1438679981 0.00001
NM_000235.4(LIPA):c.350_351insCC (p.Met117fs) rs753796180 0.00001
NM_000235.4(LIPA):c.386A>G (p.His129Arg) rs1423914418 0.00001
NM_000235.4(LIPA):c.390G>A (p.Lys130=) rs200684543 0.00001
NM_000235.4(LIPA):c.419G>A (p.Trp140Ter) rs1457072724 0.00001
NM_000235.4(LIPA):c.428+7del rs773321041 0.00001
NM_000235.4(LIPA):c.428+9G>T rs376015823 0.00001
NM_000235.4(LIPA):c.429-7A>T rs377215072 0.00001
NM_000235.4(LIPA):c.43T>C (p.Trp15Arg) rs758797771 0.00001
NM_000235.4(LIPA):c.455T>C (p.Leu152Pro) rs748267444 0.00001
NM_000235.4(LIPA):c.492C>T (p.Gly164=) rs761751211 0.00001
NM_000235.4(LIPA):c.558G>T (p.Gln186His) rs1357894906 0.00001
NM_000235.4(LIPA):c.599T>C (p.Leu200Pro) rs121965086 0.00001
NM_000235.4(LIPA):c.630T>C (p.Thr210=) rs1253166155 0.00001
NM_000235.4(LIPA):c.633C>T (p.Ser211=) rs1326596129 0.00001
NM_000235.4(LIPA):c.63G>A (p.Gly21=) rs1218489545 0.00001
NM_000235.4(LIPA):c.652C>T (p.Arg218Ter) rs771330022 0.00001
NM_000235.4(LIPA):c.669C>T (p.Leu223=) rs932100691 0.00001
NM_000235.4(LIPA):c.675+11C>A rs376016241 0.00001
NM_000235.4(LIPA):c.675+2T>G rs1564753490 0.00001
NM_000235.4(LIPA):c.6A>T (p.Lys2Asn) rs138408240 0.00001
NM_000235.4(LIPA):c.713C>T (p.Ala238Val) rs886047470 0.00001
NM_000235.4(LIPA):c.738C>T (p.His246=) rs1043989532 0.00001
NM_000235.4(LIPA):c.746C>T (p.Thr249Ile) rs373857537 0.00001
NM_000235.4(LIPA):c.761A>T (p.Lys254Met) rs779125462 0.00001
NM_000235.4(LIPA):c.822+1G>A rs1204744283 0.00001
NM_000235.4(LIPA):c.831G>A (p.Val277=) rs746566896 0.00001
NM_000235.4(LIPA):c.852T>G (p.Ser284=) rs778780317 0.00001
NM_000235.4(LIPA):c.870G>A (p.Val290=) rs756950169 0.00001
NM_000235.4(LIPA):c.912G>A (p.Lys304=) rs541939423 0.00001
NM_000235.4(LIPA):c.920C>A (p.Ala307Asp) rs754964952 0.00001
NM_000235.4(LIPA):c.987T>C (p.Asn329=) rs1470771203 0.00001
NM_000235.4(LIPA):c.996C>T (p.Asp332=) rs773803446 0.00001
NM_000431.4(MVK):c.1005C>T (p.Gly335=) rs104895357 0.00001
NM_000431.4(MVK):c.1006G>A (p.Gly336Ser) rs104895358 0.00001
NM_000431.4(MVK):c.1040-4G>A rs748756524 0.00001
NM_000431.4(MVK):c.1116C>T (p.Ile372=) rs368066027 0.00001
NM_000431.4(MVK):c.1125C>T (p.Pro375=) rs943435428 0.00001
NM_000431.4(MVK):c.1126G>A (p.Gly376Ser) rs971159663 0.00001
NM_000431.4(MVK):c.1134C>T (p.Ser378=) rs1885921145 0.00001
NM_000431.4(MVK):c.1162C>T (p.Arg388Ter) rs104895360 0.00001
NM_000431.4(MVK):c.1163G>A (p.Arg388Gln) rs886048934 0.00001
NM_000431.4(MVK):c.1174G>A (p.Ala392Thr) rs1314369808 0.00001
NM_000431.4(MVK):c.1188C>T (p.Leu396=) rs1885924156 0.00001
NM_000431.4(MVK):c.118C>T (p.Arg40Trp) rs1055952433 0.00001
NM_000431.4(MVK):c.132C>T (p.His44=) rs916712126 0.00001
NM_000431.4(MVK):c.166A>G (p.Ile56Val) rs149095003 0.00001
NM_000431.4(MVK):c.188A>T (p.Asp63Val) rs1165875328 0.00001
NM_000431.4(MVK):c.18A>G (p.Leu6=) rs1474470230 0.00001
NM_000431.4(MVK):c.197G>A (p.Arg66Lys) rs757565098 0.00001
NM_000431.4(MVK):c.19C>T (p.Leu7=) rs1166007579 0.00001
NM_000431.4(MVK):c.210G>T (p.Leu70=) rs199811011 0.00001
NM_000431.4(MVK):c.216A>G (p.Thr72=) rs758432894 0.00001
NM_000431.4(MVK):c.227A>G (p.Glu76Gly) rs1593015412 0.00001
NM_000431.4(MVK):c.313G>A (p.Glu105Lys) rs1458440007 0.00001
NM_000431.4(MVK):c.32C>T (p.Pro11Leu) rs876661001 0.00001
NM_000431.4(MVK):c.371+12G>A rs1322575575 0.00001
NM_000431.4(MVK):c.371+14C>G rs1885142481 0.00001
NM_000431.4(MVK):c.371+9G>A rs551460898 0.00001
NM_000431.4(MVK):c.372-3C>T rs104895354 0.00001
NM_000431.4(MVK):c.380C>T (p.Pro127Leu) rs775474803 0.00001
NM_000431.4(MVK):c.423G>A (p.Ala141=) rs756068705 0.00001
NM_000431.4(MVK):c.438C>T (p.Ser146=) rs777499296 0.00001
NM_000431.4(MVK):c.447C>G (p.Tyr149Ter) rs104895299 0.00001
NM_000431.4(MVK):c.483C>T (p.Cys161=) rs777886684 0.00001
NM_000431.4(MVK):c.484G>A (p.Glu162Lys) rs200457031 0.00001
NM_000431.4(MVK):c.500C>T (p.Pro167Leu) rs104895300 0.00001
NM_000431.4(MVK):c.512G>A (p.Gly171Glu) rs753599820 0.00001
NM_000431.4(MVK):c.519C>T (p.Cys173=) rs554487221 0.00001
NM_000431.4(MVK):c.527+13C>A rs199670546 0.00001
NM_000431.4(MVK):c.527+8T>C rs377547988 0.00001
NM_000431.4(MVK):c.564G>A (p.Trp188Ter) rs104895311 0.00001
NM_000431.4(MVK):c.565G>T (p.Ala189Ser) rs1403009347 0.00001
NM_000431.4(MVK):c.58C>A (p.His20Asn) rs11544299 0.00001
NM_000431.4(MVK):c.592G>C (p.Gly198Arg) rs202172198 0.00001
NM_000431.4(MVK):c.59A>C (p.His20Pro) rs104895295 0.00001
NM_000431.4(MVK):c.603C>T (p.Ser201=) rs775935897 0.00001
NM_000431.4(MVK):c.604G>A (p.Gly202Arg) rs104895301 0.00001
NM_000431.4(MVK):c.613A>G (p.Asn205Asp) rs104895364 0.00001
NM_000431.4(MVK):c.614A>G (p.Asn205Ser) rs767853272 0.00001
NM_000431.4(MVK):c.624C>T (p.Ser208=) rs879254114 0.00001
NM_000431.4(MVK):c.631+3A>G rs1178525841 0.00001
NM_000431.4(MVK):c.709A>T (p.Thr237Ser) rs104895366 0.00001
NM_000431.4(MVK):c.721C>T (p.Arg241Cys) rs758427037 0.00001
NM_000431.4(MVK):c.729C>G (p.Thr243=) rs755230199 0.00001
NM_000431.4(MVK):c.72dup (p.Gly25fs) rs104895322 0.00001
NM_000431.4(MVK):c.755A>G (p.Asn252Ser) rs112324119 0.00001
NM_000431.4(MVK):c.802A>G (p.Ile268Val) rs759997079 0.00001
NM_000431.4(MVK):c.819G>A (p.Leu273=) rs876661134 0.00001
NM_000431.4(MVK):c.886-2dup rs1332047942 0.00001
NM_000431.4(MVK):c.89C>T (p.Ala30Val) rs769000203 0.00001
NM_000431.4(MVK):c.921C>T (p.Ala307=) rs201799491 0.00001
NM_000431.4(MVK):c.928G>A (p.Val310Met) rs104895319 0.00001
NM_000431.4(MVK):c.945G>A (p.Leu315=) rs752469036 0.00001
NM_000431.4(MVK):c.961G>A (p.Val321Met) rs779869991 0.00001
NM_000784.4(CYP27A1):c.1017+14G>A rs1196582375 0.00001
NM_000784.4(CYP27A1):c.1017+1G>A rs1943742261 0.00001
NM_000784.4(CYP27A1):c.1017+4C>T rs763008570 0.00001
NM_000784.4(CYP27A1):c.1059G>T (p.Lys353Asn) rs372343607 0.00001
NM_000784.4(CYP27A1):c.1075G>C (p.Glu359Gln) rs760471205 0.00001
NM_000784.4(CYP27A1):c.1086C>T (p.His362=) rs139426361 0.00001
NM_000784.4(CYP27A1):c.1101T>G (p.Gly367=) rs752360378 0.00001
NM_000784.4(CYP27A1):c.1125C>G (p.Pro375=) rs202049251 0.00001
NM_000784.4(CYP27A1):c.113A>T (p.Asp38Val) rs1201499588 0.00001
NM_000784.4(CYP27A1):c.1162G>A (p.Ala388Thr) rs1201958431 0.00001
NM_000784.4(CYP27A1):c.1175A>C (p.Glu392Ala) rs1245201394 0.00001
NM_000784.4(CYP27A1):c.1181T>C (p.Leu394Pro) rs1406298698 0.00001
NM_000784.4(CYP27A1):c.1185-13C>A rs772157208 0.00001
NM_000784.4(CYP27A1):c.1185-16A>G rs779178036 0.00001
NM_000784.4(CYP27A1):c.1185-1G>A rs587778779 0.00001
NM_000784.4(CYP27A1):c.1195G>T (p.Val399Leu) rs1453048118 0.00001
NM_000784.4(CYP27A1):c.1213C>T (p.Arg405Trp) rs573951598 0.00001
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln) rs121908099 0.00001
NM_000784.4(CYP27A1):c.1254C>T (p.Phe418=) rs779041544 0.00001
NM_000784.4(CYP27A1):c.1263+10G>A rs775546941 0.00001
NM_000784.4(CYP27A1):c.1263+19C>A rs377513951 0.00001
NM_000784.4(CYP27A1):c.1263+2T>C rs777935791 0.00001
NM_000784.4(CYP27A1):c.1263+5G>T rs587778784 0.00001
NM_000784.4(CYP27A1):c.1263C>T (p.Asn421=) rs748358246 0.00001
NM_000784.4(CYP27A1):c.126A>G (p.Gly42=) rs1238340088 0.00001
NM_000784.4(CYP27A1):c.1309G>T (p.Ala437Ser) rs1337764272 0.00001
NM_000784.4(CYP27A1):c.1311C>T (p.Ala437=) rs886044581 0.00001
NM_000784.4(CYP27A1):c.1317T>G (p.Ser439=) rs1943767251 0.00001
NM_000784.4(CYP27A1):c.1334A>G (p.Gln445Arg) rs765660985 0.00001
NM_000784.4(CYP27A1):c.1342C>T (p.Arg448Cys) rs730882199 0.00001
NM_000784.4(CYP27A1):c.1349T>C (p.Leu450Pro) rs1480110004 0.00001
NM_000784.4(CYP27A1):c.1369A>G (p.Thr457Ala) rs373870129 0.00001
NM_000784.4(CYP27A1):c.1374C>A (p.Pro458=) rs55998945 0.00001
NM_000784.4(CYP27A1):c.1375A>C (p.Arg459=) rs755008787 0.00001
NM_000784.4(CYP27A1):c.1407T>C (p.Phe469=) rs1423547583 0.00001
NM_000784.4(CYP27A1):c.1415G>C (p.Gly472Ala) rs200883871 0.00001
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp) rs121908098 0.00001
NM_000784.4(CYP27A1):c.1477-18G>A rs886703307 0.00001
NM_000784.4(CYP27A1):c.1477-5C>A rs890298373 0.00001
NM_000784.4(CYP27A1):c.1477-8C>T rs1461082000 0.00001
NM_000784.4(CYP27A1):c.1488G>A (p.Lys496=) rs1379650960 0.00001
NM_000784.4(CYP27A1):c.1503G>A (p.Leu501=) rs1336081746 0.00001
NM_000784.4(CYP27A1):c.1515G>A (p.Thr505=) rs886656814 0.00001
NM_000784.4(CYP27A1):c.1520A>T (p.Glu507Val) rs767162764 0.00001
NM_000784.4(CYP27A1):c.1537C>T (p.Arg513Cys) rs560108684 0.00001
NM_000784.4(CYP27A1):c.1541T>C (p.Ile514Thr) rs370013480 0.00001
NM_000784.4(CYP27A1):c.1553C>G (p.Pro518Arg) rs143844199 0.00001
NM_000784.4(CYP27A1):c.1557T>C (p.Asn519=) rs1375435703 0.00001
NM_000784.4(CYP27A1):c.1573C>A (p.Gln525Lys) rs374507635 0.00001
NM_000784.4(CYP27A1):c.158G>T (p.Arg53Leu) rs376993392 0.00001
NM_000784.4(CYP27A1):c.1590G>A (p.Gln530=) rs1943775029 0.00001
NM_000784.4(CYP27A1):c.1591del (p.Cys531fs) rs755723759 0.00001
NM_000784.4(CYP27A1):c.192A>G (p.Gly64=) rs1366418494 0.00001
NM_000784.4(CYP27A1):c.203T>G (p.Phe68Cys) rs587780327 0.00001
NM_000784.4(CYP27A1):c.214C>T (p.Leu72=) rs747003400 0.00001
NM_000784.4(CYP27A1):c.255+8G>A rs774689564 0.00001
NM_000784.4(CYP27A1):c.255+9C>T rs762433789 0.00001
NM_000784.4(CYP27A1):c.256-3C>T rs1559391389 0.00001
NM_000784.4(CYP27A1):c.256-8C>A rs1416013036 0.00001
NM_000784.4(CYP27A1):c.273G>A (p.Lys91=) rs1559391394 0.00001
NM_000784.4(CYP27A1):c.294C>T (p.Ser98=) rs1696186258 0.00001
NM_000784.4(CYP27A1):c.2T>C (p.Met1Thr) rs759003992 0.00001
NM_000784.4(CYP27A1):c.32G>A (p.Trp11Ter) rs1398584213 0.00001
NM_000784.4(CYP27A1):c.335C>T (p.Pro112Leu) rs531504325 0.00001
NM_000784.4(CYP27A1):c.336G>A (p.Pro112=) rs1413155008 0.00001
NM_000784.4(CYP27A1):c.33G>A (p.Trp11Ter) rs1319938730 0.00001
NM_000784.4(CYP27A1):c.343G>C (p.Glu115Gln) rs1298533109 0.00001
NM_000784.4(CYP27A1):c.38T>C (p.Leu13Pro) rs1243753558 0.00001
NM_000784.4(CYP27A1):c.409C>T (p.Arg137Trp) rs72551312 0.00001
NM_000784.4(CYP27A1):c.416A>G (p.Gln139Arg) rs1253807962 0.00001
NM_000784.4(CYP27A1):c.432T>C (p.Tyr144=) rs1553616026 0.00001
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=) rs587778796 0.00001
NM_000784.4(CYP27A1):c.443C>G (p.Thr148Ser) rs1404621754 0.00001
NM_000784.4(CYP27A1):c.446+15G>A rs775813515 0.00001
NM_000784.4(CYP27A1):c.446+1G>A rs587778797 0.00001
NM_000784.4(CYP27A1):c.447-7C>T rs746321278 0.00001
NM_000784.4(CYP27A1):c.45G>A (p.Gly15=) rs988463082 0.00001
NM_000784.4(CYP27A1):c.475C>T (p.Gln159Ter) rs72551314 0.00001
NM_000784.4(CYP27A1):c.484A>C (p.Asn162His) rs1235744900 0.00001
NM_000784.4(CYP27A1):c.516G>A (p.Ala172=) rs749708223 0.00001
NM_000784.4(CYP27A1):c.527A>G (p.Asp176Gly) rs748325824 0.00001
NM_000784.4(CYP27A1):c.56G>T (p.Gly19Val) rs1203579586 0.00001
NM_000784.4(CYP27A1):c.577C>T (p.Arg193Trp) rs1045858420 0.00001
NM_000784.4(CYP27A1):c.587G>T (p.Ser196Ile) rs375643077 0.00001
NM_000784.4(CYP27A1):c.62G>A (p.Cys21Tyr) rs757653354 0.00001
NM_000784.4(CYP27A1):c.646G>C (p.Ala216Pro) rs201346271 0.00001
NM_000784.4(CYP27A1):c.654C>T (p.Cys218=) rs1943729887 0.00001
NM_000784.4(CYP27A1):c.667G>A (p.Glu223Lys) rs760323157 0.00001
NM_000784.4(CYP27A1):c.681C>T (p.Gly227=) rs1182190234 0.00001
NM_000784.4(CYP27A1):c.68A>C (p.His23Pro) rs1943398664 0.00001
NM_000784.4(CYP27A1):c.691C>T (p.Arg231Ter) rs72551315 0.00001
NM_000784.4(CYP27A1):c.693A>G (p.Arg231=) rs1187804477 0.00001
NM_000784.4(CYP27A1):c.699C>A (p.Ile233=) rs1178297854 0.00001
NM_000784.4(CYP27A1):c.69C>T (p.His23=) rs1444634924 0.00001
NM_000784.4(CYP27A1):c.705G>A (p.Glu235=) rs1943733748 0.00001
NM_000784.4(CYP27A1):c.720C>T (p.Phe240=) rs748075933 0.00001
NM_000784.4(CYP27A1):c.732C>T (p.Ile244=) rs1224145759 0.00001
NM_000784.4(CYP27A1):c.733G>A (p.Gly245Arg) rs746666035 0.00001
NM_000784.4(CYP27A1):c.745C>T (p.Gln249Ter) rs72551316 0.00001
NM_000784.4(CYP27A1):c.776A>G (p.Lys259Arg) rs72551317 0.00001
NM_000784.4(CYP27A1):c.77G>A (p.Arg26Lys) rs192494481 0.00001
NM_000784.4(CYP27A1):c.781A>G (p.Thr261Ala) rs1271066819 0.00001
NM_000784.4(CYP27A1):c.788C>G (p.Pro263Arg) rs1274003022 0.00001
NM_000784.4(CYP27A1):c.845-3C>T rs768674577 0.00001
NM_000784.4(CYP27A1):c.84G>C (p.Lys28Asn) rs958713867 0.00001
NM_000784.4(CYP27A1):c.866A>C (p.Lys289Thr) rs371056722 0.00001
NM_000784.4(CYP27A1):c.882G>A (p.Glu294=) rs59428328 0.00001
NM_000784.4(CYP27A1):c.883G>C (p.Ala295Pro) rs371133296 0.00001
NM_000784.4(CYP27A1):c.968G>A (p.Arg323Gln) rs769640126 0.00001
NM_000784.4(CYP27A1):c.990T>C (p.Pro330=) rs1227319154 0.00001
NM_001127178.3(PIGG):c.1003C>G (p.Leu335Val) rs1560312731 0.00001
NM_001127178.3(PIGG):c.1016T>G (p.Val339Gly) rs753986224 0.00001
NM_001127178.3(PIGG):c.1030A>G (p.Met344Val) rs757141700 0.00001
NM_001127178.3(PIGG):c.1045A>G (p.Arg349Gly) rs746477290 0.00001
NM_001127178.3(PIGG):c.1049T>C (p.Phe350Ser) rs1316106838 0.00001
NM_001127178.3(PIGG):c.1079A>T (p.Lys360Ile) rs1458865895 0.00001
NM_001127178.3(PIGG):c.1087C>G (p.Gln363Glu) rs144029286 0.00001
NM_001127178.3(PIGG):c.1207A>G (p.Asn403Asp) rs1233234368 0.00001
NM_001127178.3(PIGG):c.1250A>G (p.Lys417Arg) rs149347679 0.00001
NM_001127178.3(PIGG):c.1291G>A (p.Asp431Asn) rs753304209 0.00001
NM_001127178.3(PIGG):c.1320C>T (p.Val440=) rs200541791 0.00001
NM_001127178.3(PIGG):c.1331A>G (p.Glu444Gly) rs1215019860 0.00001
NM_001127178.3(PIGG):c.1332+1G>A rs779043705 0.00001
NM_001127178.3(PIGG):c.1345C>T (p.Leu449Phe) rs374787706 0.00001
NM_001127178.3(PIGG):c.1370T>C (p.Leu457Pro) rs757348373 0.00001
NM_001127178.3(PIGG):c.1441C>G (p.Leu481Val) rs1333417722 0.00001
NM_001127178.3(PIGG):c.1452G>A (p.Ser484=) rs758384891 0.00001
NM_001127178.3(PIGG):c.1462G>A (p.Val488Ile) rs780904126 0.00001
NM_001127178.3(PIGG):c.1511C>T (p.Ser504Leu) rs770538814 0.00001
NM_001127178.3(PIGG):c.1521G>A (p.Ala507=) rs765820128 0.00001
NM_001127178.3(PIGG):c.155-15C>A rs781840854 0.00001
NM_001127178.3(PIGG):c.155-20T>A rs782709196 0.00001
NM_001127178.3(PIGG):c.1551G>A (p.Ala517=) rs574049045 0.00001
NM_001127178.3(PIGG):c.1557G>C (p.Leu519=) rs1359690349 0.00001
NM_001127178.3(PIGG):c.1560T>C (p.Cys520=) rs535104901 0.00001
NM_001127178.3(PIGG):c.1568T>C (p.Val523Ala) rs1385893204 0.00001
NM_001127178.3(PIGG):c.1590C>T (p.Leu530=) rs752835035 0.00001
NM_001127178.3(PIGG):c.1615-15C>G rs1373361482 0.00001
NM_001127178.3(PIGG):c.1615-16A>G rs1210694446 0.00001
NM_001127178.3(PIGG):c.1615-19T>C rs755246259 0.00001
NM_001127178.3(PIGG):c.1622T>C (p.Met541Thr) rs181098265 0.00001
NM_001127178.3(PIGG):c.1635A>T (p.Ser545=) rs766274193 0.00001
NM_001127178.3(PIGG):c.1640G>A (p.Trp547Ter) rs547951371 0.00001
NM_001127178.3(PIGG):c.1649T>C (p.Leu550Pro) rs1465940384 0.00001
NM_001127178.3(PIGG):c.1657C>T (p.Leu553Phe) rs749815897 0.00001
NM_001127178.3(PIGG):c.166A>G (p.Asn56Asp) rs1186069679 0.00001
NM_001127178.3(PIGG):c.1673C>T (p.Thr558Met) rs755701436 0.00001
NM_001127178.3(PIGG):c.1795C>T (p.Leu599=) rs575980069 0.00001
NM_001127178.3(PIGG):c.1803del (p.Asp601fs) rs1377893089 0.00001
NM_001127178.3(PIGG):c.182C>G (p.Pro61Arg) rs561293197 0.00001
NM_001127178.3(PIGG):c.1848C>T (p.Asp616=) rs1252281452 0.00001
NM_001127178.3(PIGG):c.1856C>T (p.Thr619Ile) rs1461812770 0.00001
NM_001127178.3(PIGG):c.1873G>A (p.Gly625Arg) rs374509382 0.00001
NM_001127178.3(PIGG):c.1875G>T (p.Gly625=) rs761463314 0.00001
NM_001127178.3(PIGG):c.1880G>A (p.Gly627Asp) rs768176283 0.00001
NM_001127178.3(PIGG):c.1925C>T (p.Thr642Ile) rs1222148392 0.00001
NM_001127178.3(PIGG):c.192C>A (p.Leu64=) rs782283321 0.00001
NM_001127178.3(PIGG):c.1953G>A (p.Lys651=) rs1388211962 0.00001
NM_001127178.3(PIGG):c.1954T>C (p.Trp652Arg) rs1385386286 0.00001
NM_001127178.3(PIGG):c.1982T>G (p.Ile661Arg) rs1354527981 0.00001
NM_001127178.3(PIGG):c.1992C>T (p.Cys664=) rs758199421 0.00001
NM_001127178.3(PIGG):c.2019G>A (p.Gln673=) rs1205397074 0.00001
NM_001127178.3(PIGG):c.2030A>C (p.Gln677Pro) rs773058327 0.00001
NM_001127178.3(PIGG):c.2042G>A (p.Arg681Gln) rs996876333 0.00001
NM_001127178.3(PIGG):c.2070-7A>C rs748905772 0.00001
NM_001127178.3(PIGG):c.2118C>T (p.Leu706=) rs201460920 0.00001
NM_001127178.3(PIGG):c.2122G>A (p.Val708Ile) rs1727843012 0.00001
NM_001127178.3(PIGG):c.2145G>A (p.Gly715=) rs1326450849 0.00001
NM_001127178.3(PIGG):c.2149T>C (p.Ser717Pro) rs1227312399 0.00001
NM_001127178.3(PIGG):c.2164G>T (p.Ala722Ser) rs1490299578 0.00001
NM_001127178.3(PIGG):c.2167G>T (p.Ala723Ser) rs766431104 0.00001
NM_001127178.3(PIGG):c.2183T>A (p.Leu728Gln) rs148984320 0.00001
NM_001127178.3(PIGG):c.218T>C (p.Ile73Thr) rs143202449 0.00001
NM_001127178.3(PIGG):c.2190C>T (p.Gly730=) rs755952808 0.00001
NM_001127178.3(PIGG):c.2207C>T (p.Ala736Val) rs745563663 0.00001
NM_001127178.3(PIGG):c.220G>C (p.Asp74His) rs1446489399 0.00001
NM_001127178.3(PIGG):c.2251G>A (p.Asp751Asn) rs1247112586 0.00001
NM_001127178.3(PIGG):c.2258C>T (p.Ser753Phe) rs1337903299 0.00001
NM_001127178.3(PIGG):c.2261+13C>T rs760444554 0.00001
NM_001127178.3(PIGG):c.2261+8C>T rs761799638 0.00001
NM_001127178.3(PIGG):c.2261A>G (p.Lys754Arg) rs1460635221 0.00001
NM_001127178.3(PIGG):c.2262-9C>T rs1284427861 0.00001
NM_001127178.3(PIGG):c.2270T>C (p.Ile757Thr) rs769746714 0.00001
NM_001127178.3(PIGG):c.2302G>C (p.Gly768Arg) rs35206248 0.00001
NM_001127178.3(PIGG):c.2344G>A (p.Val782Ile) rs1481096490 0.00001
NM_001127178.3(PIGG):c.2383T>C (p.Trp795Arg) rs765836878 0.00001
NM_001127178.3(PIGG):c.2401T>C (p.Leu801=) rs767199998 0.00001
NM_001127178.3(PIGG):c.2449T>C (p.Leu817=) rs781619532 0.00001
NM_001127178.3(PIGG):c.2478A>G (p.Leu826=) rs371928783 0.00001
NM_001127178.3(PIGG):c.2499G>C (p.Lys833Asn) rs1056486559 0.00001
NM_001127178.3(PIGG):c.2505G>C (p.Leu835=) rs767003985 0.00001
NM_001127178.3(PIGG):c.251C>T (p.Ser84Leu) rs1576991286 0.00001
NM_001127178.3(PIGG):c.2520T>C (p.Ala840=) rs758654390 0.00001
NM_001127178.3(PIGG):c.2527A>T (p.Thr843Ser) rs767057575 0.00001
NM_001127178.3(PIGG):c.2541T>C (p.Tyr847=) rs781352236 0.00001
NM_001127178.3(PIGG):c.2555C>A (p.Ala852Glu) rs749071064 0.00001
NM_001127178.3(PIGG):c.2569C>T (p.Gln857Ter) rs1294683568 0.00001
NM_001127178.3(PIGG):c.2607C>T (p.Ser869=) rs753141401 0.00001
NM_001127178.3(PIGG):c.2618T>C (p.Val873Ala) rs757434253 0.00001
NM_001127178.3(PIGG):c.2625dup (p.Asp876fs) rs1491240980 0.00001
NM_001127178.3(PIGG):c.2634C>T (p.Tyr878=) rs1176830505 0.00001
NM_001127178.3(PIGG):c.2635G>A (p.Val879Met) rs780094078 0.00001
NM_001127178.3(PIGG):c.2649C>T (p.Ala883=) rs747823544 0.00001
NM_001127178.3(PIGG):c.2650G>A (p.Val884Met) rs1354813742 0.00001
NM_001127178.3(PIGG):c.2708T>C (p.Val903Ala) rs960399559 0.00001
NM_001127178.3(PIGG):c.2727A>G (p.Glu909=) rs1450517361 0.00001
NM_001127178.3(PIGG):c.2731C>T (p.Arg911Cys) rs781165955 0.00001
NM_001127178.3(PIGG):c.2735+12C>T rs1320152841 0.00001
NM_001127178.3(PIGG):c.2735+18C>T rs200460044 0.00001
NM_001127178.3(PIGG):c.2736-16T>A rs1731465323 0.00001
NM_001127178.3(PIGG):c.2736-7T>C rs1265250710 0.00001
NM_001127178.3(PIGG):c.277A>G (p.Thr93Ala) rs369561606 0.00001
NM_001127178.3(PIGG):c.2805C>T (p.Ile935=) rs267600179 0.00001
NM_001127178.3(PIGG):c.2826T>C (p.Arg942=) rs1731494471 0.00001
NM_001127178.3(PIGG):c.2871C>T (p.Tyr957=) rs772025091 0.00001
NM_001127178.3(PIGG):c.2872G>A (p.Glu958Lys) rs775379047 0.00001
NM_001127178.3(PIGG):c.2937A>G (p.Arg979=) rs778211486 0.00001
NM_001127178.3(PIGG):c.296A>C (p.Lys99Thr) rs782529475 0.00001
NM_001127178.3(PIGG):c.305C>A (p.Ser102Tyr) rs1310018267 0.00001
NM_001127178.3(PIGG):c.352C>T (p.Arg118Ter) rs782124562 0.00001
NM_001127178.3(PIGG):c.396C>T (p.Asp132=) rs782206608 0.00001
NM_001127178.3(PIGG):c.416C>T (p.Ser139Phe) rs781917108 0.00001
NM_001127178.3(PIGG):c.44T>C (p.Ile15Thr) rs1406764492 0.00001
NM_001127178.3(PIGG):c.494C>T (p.Thr165Ile) rs1553878822 0.00001
NM_001127178.3(PIGG):c.498G>A (p.Trp166Ter) rs1418085145 0.00001
NM_001127178.3(PIGG):c.570+18del rs1322798844 0.00001
NM_001127178.3(PIGG):c.571-19G>A rs782367632 0.00001
NM_001127178.3(PIGG):c.624G>A (p.Trp208Ter) rs1553880152 0.00001
NM_001127178.3(PIGG):c.628A>G (p.Ile210Val) rs185393063 0.00001
NM_001127178.3(PIGG):c.662T>C (p.Ile221Thr) rs782381516 0.00001
NM_001127178.3(PIGG):c.710G>A (p.Ser237Asn) rs1720160858 0.00001
NM_001127178.3(PIGG):c.738C>A (p.Ile246=) rs781975150 0.00001
NM_001127178.3(PIGG):c.763A>G (p.Arg255Gly) rs1359112430 0.00001
NM_001127178.3(PIGG):c.770C>T (p.Thr257Met) rs782384237 0.00001
NM_001127178.3(PIGG):c.77G>T (p.Gly26Val) rs530918336 0.00001
NM_001127178.3(PIGG):c.839C>T (p.Ser280Phe) rs1239778620 0.00001
NM_001127178.3(PIGG):c.847G>A (p.Glu283Lys) rs374780994 0.00001
NM_001127178.3(PIGG):c.856A>C (p.Asn286His) rs1553881570 0.00001
NM_001127178.3(PIGG):c.862C>G (p.Pro288Ala) rs369146029 0.00001
NM_001127178.3(PIGG):c.867G>T (p.Leu289=) rs149769844 0.00001
NM_001127178.3(PIGG):c.910C>T (p.Arg304Ter) rs752545577 0.00001
NM_001127178.3(PIGG):c.928C>T (p.Gln310Ter) rs869320772 0.00001
NM_001127178.3(PIGG):c.936G>A (p.Thr312=) rs752977070 0.00001
NM_001127178.3(PIGG):c.940G>A (p.Val314Met) rs1335469607 0.00001
NM_001127178.3(PIGG):c.974C>T (p.Pro325Leu) rs746660978 0.00001
NM_001127178.3(PIGG):c.981A>G (p.Pro327=) rs771173403 0.00001
NM_001166114.2(PNPLA6):c.1002C>T (p.Ser334=) rs747703454 0.00001
NM_001166114.2(PNPLA6):c.1005+8G>A rs368417668 0.00001
NM_001166114.2(PNPLA6):c.1038C>T (p.Pro346=) rs1173980380 0.00001
NM_001166114.2(PNPLA6):c.1060C>G (p.Pro354Ala) rs1309856946 0.00001
NM_001166114.2(PNPLA6):c.1069G>A (p.Gly357Ser) rs753225629 0.00001
NM_001166114.2(PNPLA6):c.1079G>A (p.Arg360Lys) rs948393107 0.00001
NM_001166114.2(PNPLA6):c.1124G>A (p.Gly375Glu) rs1163920380 0.00001
NM_001166114.2(PNPLA6):c.1135G>A (p.Asp379Asn) rs1372004040 0.00001
NM_001166114.2(PNPLA6):c.1143C>T (p.Thr381=) rs763107646 0.00001
NM_001166114.2(PNPLA6):c.1147G>A (p.Ala383Thr) rs774683671 0.00001
NM_001166114.2(PNPLA6):c.1200C>A (p.Thr400=) rs929650463 0.00001
NM_001166114.2(PNPLA6):c.1203C>A (p.Pro401=) rs546470199 0.00001
NM_001166114.2(PNPLA6):c.1212T>C (p.Pro404=) rs748049105 0.00001
NM_001166114.2(PNPLA6):c.1213C>T (p.Leu405=) rs900654242 0.00001
NM_001166114.2(PNPLA6):c.1221C>T (p.Ser407=) rs1490391922 0.00001
NM_001166114.2(PNPLA6):c.1227C>T (p.Cys409=) rs1032668743 0.00001
NM_001166114.2(PNPLA6):c.1253-9T>C rs780231524 0.00001
NM_001166114.2(PNPLA6):c.1290C>T (p.Ala430=) rs763990023 0.00001
NM_001166114.2(PNPLA6):c.1304G>A (p.Arg435Gln) rs376174058 0.00001
NM_001166114.2(PNPLA6):c.131C>T (p.Pro44Leu) rs372169542 0.00001
NM_001166114.2(PNPLA6):c.1336G>C (p.Gly446Arg) rs573529919 0.00001
NM_001166114.2(PNPLA6):c.1361G>A (p.Arg454Gln) rs370626406 0.00001
NM_001166114.2(PNPLA6):c.1378C>T (p.Pro460Ser) rs757610420 0.00001
NM_001166114.2(PNPLA6):c.148C>T (p.Leu50Phe) rs770929257 0.00001
NM_001166114.2(PNPLA6):c.1523G>A (p.Arg508Gln) rs370094298 0.00001
NM_001166114.2(PNPLA6):c.1530+16G>T rs955181846 0.00001
NM_001166114.2(PNPLA6):c.1531-14C>T rs531317475 0.00001
NM_001166114.2(PNPLA6):c.1537T>G (p.Ser513Ala) rs1306308836 0.00001
NM_001166114.2(PNPLA6):c.1538C>T (p.Ser513Phe) rs1351660925 0.00001
NM_001166114.2(PNPLA6):c.1554A>G (p.Arg518=) rs201805444 0.00001
NM_001166114.2(PNPLA6):c.1569C>T (p.His523=) rs753311777 0.00001
NM_001166114.2(PNPLA6):c.1570G>A (p.Ala524Thr) rs763642095 0.00001
NM_001166114.2(PNPLA6):c.1593C>T (p.Ala531=) rs778704836 0.00001
NM_001166114.2(PNPLA6):c.1595G>A (p.Arg532His) rs374297942 0.00001
NM_001166114.2(PNPLA6):c.1621C>T (p.His541Tyr) rs1050752297 0.00001
NM_001166114.2(PNPLA6):c.1647C>T (p.His549=) rs1203825341 0.00001
NM_001166114.2(PNPLA6):c.1686C>T (p.Cys562=) rs1376335368 0.00001
NM_001166114.2(PNPLA6):c.1696G>A (p.Ala566Thr) rs200855333 0.00001
NM_001166114.2(PNPLA6):c.1707G>A (p.Gly569=) rs369854428 0.00001
NM_001166114.2(PNPLA6):c.1740C>T (p.Gly580=) rs752720134 0.00001
NM_001166114.2(PNPLA6):c.1759C>G (p.Leu587Val) rs757260835 0.00001
NM_001166114.2(PNPLA6):c.1794C>T (p.Ile598=) rs769141895 0.00001
NM_001166114.2(PNPLA6):c.1853C>T (p.Ala618Val) rs568356836 0.00001
NM_001166114.2(PNPLA6):c.186C>G (p.Val62=) rs759997114 0.00001
NM_001166114.2(PNPLA6):c.1876T>G (p.Ser626Ala) rs1484050135 0.00001
NM_001166114.2(PNPLA6):c.1946+17G>A rs745446485 0.00001
NM_001166114.2(PNPLA6):c.1947-10G>T rs1442071919 0.00001
NM_001166114.2(PNPLA6):c.1947-4T>A rs1345358439 0.00001
NM_001166114.2(PNPLA6):c.2001C>T (p.Ser667=) rs2023599428 0.00001
NM_001166114.2(PNPLA6):c.2016del (p.Ser673fs) rs765221332 0.00001
NM_001166114.2(PNPLA6):c.2071-11C>G rs1473177184 0.00001
NM_001166114.2(PNPLA6):c.2107G>T (p.Val703Leu) rs979155811 0.00001
NM_001166114.2(PNPLA6):c.2112C>T (p.His704=) rs539949077 0.00001
NM_001166114.2(PNPLA6):c.2115G>C (p.Ala705=) rs769646919 0.00001
NM_001166114.2(PNPLA6):c.2127G>A (p.Thr709=) rs2023621489 0.00001
NM_001166114.2(PNPLA6):c.2148G>T (p.Glu716Asp) rs1425497937 0.00001
NM_001166114.2(PNPLA6):c.216G>C (p.Arg72=) rs745769028 0.00001
NM_001166114.2(PNPLA6):c.2184+4C>T rs569845262 0.00001
NM_001166114.2(PNPLA6):c.2260+18C>T rs1211653962 0.00001
NM_001166114.2(PNPLA6):c.226G>A (p.Val76Met) rs749575421 0.00001
NM_001166114.2(PNPLA6):c.2277G>A (p.Val759=) rs1030480370 0.00001
NM_001166114.2(PNPLA6):c.2329A>G (p.Ile777Val) rs752227045 0.00001
NM_001166114.2(PNPLA6):c.233-13C>G rs1286099101 0.00001
NM_001166114.2(PNPLA6):c.233-15C>T rs1320951446 0.00001
NM_001166114.2(PNPLA6):c.233-8A>G rs369490744 0.00001
NM_001166114.2(PNPLA6):c.2344G>A (p.Ala782Thr) rs1354212753 0.00001
NM_001166114.2(PNPLA6):c.2369C>T (p.Thr790Met) rs753592836 0.00001
NM_001166114.2(PNPLA6):c.2370G>A (p.Thr790=) rs1223839797 0.00001
NM_001166114.2(PNPLA6):c.238C>T (p.Pro80Ser) rs772575811 0.00001
NM_001166114.2(PNPLA6):c.2401+6T>C rs368277076 0.00001
NM_001166114.2(PNPLA6):c.2402-11C>A rs756209420 0.00001
NM_001166114.2(PNPLA6):c.2409G>A (p.Thr803=) rs775962215 0.00001
NM_001166114.2(PNPLA6):c.2440C>T (p.Arg814Cys) rs531445564 0.00001
NM_001166114.2(PNPLA6):c.2451C>T (p.Ala817=) rs1354702717 0.00001
NM_001166114.2(PNPLA6):c.2457A>G (p.Ala819=) rs753933888 0.00001
NM_001166114.2(PNPLA6):c.2465+4T>C rs758703848 0.00001
NM_001166114.2(PNPLA6):c.2466C>T (p.Ser822=) rs780346245 0.00001
NM_001166114.2(PNPLA6):c.2503C>G (p.Gln835Glu) rs1001173506 0.00001
NM_001166114.2(PNPLA6):c.2523C>T (p.Ile841=) rs375484169 0.00001
NM_001166114.2(PNPLA6):c.2526A>T (p.Val842=) rs534004578 0.00001
NM_001166114.2(PNPLA6):c.2543C>T (p.Ala848Val) rs760534400 0.00001
NM_001166114.2(PNPLA6):c.261T>C (p.Tyr87=) rs1255862253 0.00001
NM_001166114.2(PNPLA6):c.2632C>G (p.Gln878Glu) rs369420098 0.00001
NM_001166114.2(PNPLA6):c.2709G>A (p.Ala903=) rs1198453694 0.00001
NM_001166114.2(PNPLA6):c.2808T>C (p.Pro936=) rs1159313089 0.00001
NM_001166114.2(PNPLA6):c.2815C>T (p.Leu939=) rs201897212 0.00001
NM_001166114.2(PNPLA6):c.2817+17C>T rs777558728 0.00001
NM_001166114.2(PNPLA6):c.2818-9C>G rs759090007 0.00001
NM_001166114.2(PNPLA6):c.2853G>A (p.Ala951=) rs1257216343 0.00001
NM_001166114.2(PNPLA6):c.288C>T (p.Leu96=) rs764984037 0.00001
NM_001166114.2(PNPLA6):c.2917C>T (p.Leu973=) rs1488307606 0.00001
NM_001166114.2(PNPLA6):c.2928C>T (p.Gly976=) rs553944725 0.00001
NM_001166114.2(PNPLA6):c.2936+10G>T rs968640767 0.00001
NM_001166114.2(PNPLA6):c.2956G>A (p.Val986Ile) rs1400699469 0.00001
NM_001166114.2(PNPLA6):c.2958A>G (p.Val986=) rs752794292 0.00001
NM_001166114.2(PNPLA6):c.3019T>G (p.Ser1007Ala) rs775899903 0.00001
NM_001166114.2(PNPLA6):c.3027C>T (p.Ile1009=) rs746522719 0.00001
NM_001166114.2(PNPLA6):c.3028G>C (p.Gly1010Arg) rs768107851 0.00001
NM_001166114.2(PNPLA6):c.3032C>T (p.Ala1011Val) rs776289656 0.00001
NM_001166114.2(PNPLA6):c.3042G>C (p.Ala1014=) rs769668311 0.00001
NM_001166114.2(PNPLA6):c.3104C>T (p.Ser1035Leu) rs541098659 0.00001
NM_001166114.2(PNPLA6):c.3146C>T (p.Ser1049Phe) rs2023885542 0.00001
NM_001166114.2(PNPLA6):c.315+19G>A rs746162865 0.00001
NM_001166114.2(PNPLA6):c.316-2A>T rs148045000 0.00001
NM_001166114.2(PNPLA6):c.3184C>T (p.Arg1062Trp) rs375118832 0.00001
NM_001166114.2(PNPLA6):c.3185G>A (p.Arg1062Gln) rs368449963 0.00001
NM_001166114.2(PNPLA6):c.318G>A (p.Val106=) rs758696482 0.00001
NM_001166114.2(PNPLA6):c.3210+3A>G rs1167974266 0.00001
NM_001166114.2(PNPLA6):c.3211-5C>T rs376209366 0.00001
NM_001166114.2(PNPLA6):c.3220C>T (p.Leu1074=) rs1188314161 0.00001
NM_001166114.2(PNPLA6):c.3281-7C>T rs762489747 0.00001
NM_001166114.2(PNPLA6):c.3293G>A (p.Arg1098Gln) rs756056332 0.00001
NM_001166114.2(PNPLA6):c.3302G>A (p.Arg1101His) rs777615874 0.00001
NM_001166114.2(PNPLA6):c.3303C>T (p.Arg1101=) rs752861684 0.00001
NM_001166114.2(PNPLA6):c.3314C>T (p.Thr1105Met) rs1202026658 0.00001
NM_001166114.2(PNPLA6):c.3333C>T (p.Pro1111=) rs777073418 0.00001
NM_001166114.2(PNPLA6):c.3339G>A (p.Leu1113=) rs770303471 0.00001
NM_001166114.2(PNPLA6):c.3342C>T (p.Cys1114=) rs972738687 0.00001
NM_001166114.2(PNPLA6):c.3376G>A (p.Gly1126Ser) rs1204028385 0.00001
NM_001166114.2(PNPLA6):c.3402C>T (p.Asp1134=) rs768519069 0.00001
NM_001166114.2(PNPLA6):c.3481G>A (p.Gly1161Arg) rs776490050 0.00001
NM_001166114.2(PNPLA6):c.3518G>A (p.Arg1173Gln) rs1057517802 0.00001
NM_001166114.2(PNPLA6):c.3540G>A (p.Lys1180=) rs138697761 0.00001
NM_001166114.2(PNPLA6):c.3590C>A (p.Ser1197Tyr) rs746492824 0.00001
NM_001166114.2(PNPLA6):c.3600G>T (p.Arg1200=) rs149359299 0.00001
NM_001166114.2(PNPLA6):c.3633C>T (p.Cys1211=) rs200413993 0.00001
NM_001166114.2(PNPLA6):c.3648G>A (p.Pro1216=) rs765541557 0.00001
NM_001166114.2(PNPLA6):c.3680G>T (p.Gly1227Val) rs780878126 0.00001
NM_001166114.2(PNPLA6):c.3698A>G (p.Tyr1233Cys) rs777550870 0.00001
NM_001166114.2(PNPLA6):c.3700-9T>G rs528382572 0.00001
NM_001166114.2(PNPLA6):c.3703G>A (p.Val1235Met) rs745714280 0.00001
NM_001166114.2(PNPLA6):c.3732T>C (p.Phe1244=) rs967628708 0.00001
NM_001166114.2(PNPLA6):c.3754G>A (p.Val1252Ile) rs753386551 0.00001
NM_001166114.2(PNPLA6):c.3768G>T (p.Met1256Ile) rs878854905 0.00001
NM_001166114.2(PNPLA6):c.3805C>T (p.Arg1269Cys) rs2024064953 0.00001
NM_001166114.2(PNPLA6):c.3816+1G>A rs1490826010 0.00001
NM_001166114.2(PNPLA6):c.3856G>A (p.Glu1286Lys) rs1318719241 0.00001
NM_001166114.2(PNPLA6):c.3869G>A (p.Arg1290Gln) rs764729340 0.00001
NM_001166114.2(PNPLA6):c.3961G>A (p.Asp1321Asn) rs144558473 0.00001
NM_001166114.2(PNPLA6):c.3968C>T (p.Ser1323Leu) rs147822708 0.00001
NM_001166114.2(PNPLA6):c.3991G>A (p.Glu1331Lys) rs371906206 0.00001
NM_001166114.2(PNPLA6):c.3992A>T (p.Glu1331Val) rs771807857 0.00001
NM_001166114.2(PNPLA6):c.4017C>T (p.Ser1339=) rs140501151 0.00001
NM_001166114.2(PNPLA6):c.4046G>A (p.Arg1349Gln) rs368661376 0.00001
NM_001166114.2(PNPLA6):c.4064C>T (p.Pro1355Leu) rs2024101144 0.00001
NM_001166114.2(PNPLA6):c.4083A>C (p.Ser1361=) rs1285522188 0.00001
NM_001166114.2(PNPLA6):c.413+15G>A rs766635130 0.00001
NM_001166114.2(PNPLA6):c.414-3C>G rs1312058418 0.00001
NM_001166114.2(PNPLA6):c.465G>A (p.Pro155=) rs1466764526 0.00001
NM_001166114.2(PNPLA6):c.517C>T (p.Leu173=) rs756791412 0.00001
NM_001166114.2(PNPLA6):c.570C>T (p.Phe190=) rs1007265464 0.00001
NM_001166114.2(PNPLA6):c.599G>A (p.Arg200His) rs749879325 0.00001
NM_001166114.2(PNPLA6):c.621G>A (p.Leu207=) rs200521839 0.00001
NM_001166114.2(PNPLA6):c.647C>T (p.Pro216Leu) rs777837588 0.00001
NM_001166114.2(PNPLA6):c.684C>T (p.Asp228=) rs375424103 0.00001
NM_001166114.2(PNPLA6):c.713C>T (p.Pro238Leu) rs763499274 0.00001
NM_001166114.2(PNPLA6):c.715-17G>A rs372017403 0.00001
NM_001166114.2(PNPLA6):c.715-18C>T rs747065084 0.00001
NM_001166114.2(PNPLA6):c.717C>T (p.Asp239=) rs770120484 0.00001
NM_001166114.2(PNPLA6):c.808C>T (p.Pro270Ser) rs1382702507 0.00001
NM_001166114.2(PNPLA6):c.838C>T (p.Arg280Trp) rs779386400 0.00001
NM_001166114.2(PNPLA6):c.842A>G (p.Asp281Gly) rs746313026 0.00001
NM_001166114.2(PNPLA6):c.897C>A (p.Tyr299Ter) rs1568408269 0.00001
NM_001166114.2(PNPLA6):c.946C>A (p.Arg316=) rs1352475389 0.00001
NM_001166114.2(PNPLA6):c.958C>T (p.Leu320=) rs758832982 0.00001
NM_001166114.2(PNPLA6):c.964C>T (p.Leu322=) rs747498966 0.00001
NM_001166114.2(PNPLA6):c.989A>G (p.Asn330Ser) rs1183371584 0.00001
NM_001346754.2(PIGW):c.1027C>G (p.Leu343Val) rs761421862 0.00001
NM_001346754.2(PIGW):c.1066G>A (p.Val356Ile) rs757289253 0.00001
NM_001346754.2(PIGW):c.1082T>A (p.Val361Glu) rs551293655 0.00001
NM_001346754.2(PIGW):c.1096C>T (p.Arg366Ter) rs747591955 0.00001
NM_001346754.2(PIGW):c.1123A>G (p.Ile375Val) rs1267632826 0.00001
NM_001346754.2(PIGW):c.1136C>A (p.Ala379Asp) rs1183657483 0.00001
NM_001346754.2(PIGW):c.1177A>G (p.Ile393Val) rs546733529 0.00001
NM_001346754.2(PIGW):c.1210G>A (p.Gly404Arg) rs200125663 0.00001
NM_001346754.2(PIGW):c.1282G>A (p.Val428Ile) rs1198359147 0.00001
NM_001346754.2(PIGW):c.1306C>T (p.Pro436Ser) rs752621297 0.00001
NM_001346754.2(PIGW):c.1376C>T (p.Thr459Ile) rs749727512 0.00001
NM_001346754.2(PIGW):c.1396G>A (p.Val466Ile) rs2074174413 0.00001
NM_001346754.2(PIGW):c.1448A>G (p.Tyr483Cys) rs757082131 0.00001
NM_001346754.2(PIGW):c.1492G>A (p.Asp498Asn) rs1427870747 0.00001
NM_001346754.2(PIGW):c.1507T>C (p.Phe503Leu) rs1403836098 0.00001
NM_001346754.2(PIGW):c.153T>C (p.Pro51=) rs748068199 0.00001
NM_001346754.2(PIGW):c.155C>T (p.Thr52Ile) rs1276450545 0.00001
NM_001346754.2(PIGW):c.295C>T (p.Arg99Ter) rs745493713 0.00001
NM_001346754.2(PIGW):c.307T>C (p.Cys103Arg) rs762575873 0.00001
NM_001346754.2(PIGW):c.313G>A (p.Ala105Thr) rs752927440 0.00001
NM_001346754.2(PIGW):c.320T>G (p.Leu107Arg) rs148520565 0.00001
NM_001346754.2(PIGW):c.397C>T (p.Arg133Cys) rs1292555631 0.00001
NM_001346754.2(PIGW):c.424A>G (p.Ile142Val) rs1156430576 0.00001
NM_001346754.2(PIGW):c.431T>G (p.Ile144Ser) rs754061279 0.00001
NM_001346754.2(PIGW):c.462A>G (p.Arg154=) rs1170311490 0.00001
NM_001346754.2(PIGW):c.512dup (p.Gly172fs) rs1255315606 0.00001
NM_001346754.2(PIGW):c.560G>A (p.Arg187Lys) rs544953074 0.00001
NM_001346754.2(PIGW):c.599C>T (p.Thr200Ile) rs753730055 0.00001
NM_001346754.2(PIGW):c.624A>G (p.Pro208=) rs776949283 0.00001
NM_001346754.2(PIGW):c.637G>A (p.Gly213Arg) rs145283085 0.00001
NM_001346754.2(PIGW):c.642C>T (p.Ile214=) rs775786836 0.00001
NM_001346754.2(PIGW):c.656T>C (p.Ile219Thr) rs1165869015 0.00001
NM_001346754.2(PIGW):c.727A>G (p.Ile243Val) rs752393681 0.00001
NM_001346754.2(PIGW):c.777T>C (p.Asn259=) rs774528615 0.00001
NM_001346754.2(PIGW):c.799G>A (p.Gly267Ser) rs765071059 0.00001
NM_001346754.2(PIGW):c.809T>C (p.Val270Ala) rs1305809089 0.00001
NM_001346754.2(PIGW):c.824C>G (p.Ala275Gly) rs560786982 0.00001
NM_001346754.2(PIGW):c.894A>G (p.Leu298=) rs1483319678 0.00001
NM_001346754.2(PIGW):c.910G>A (p.Glu304Lys) rs763678894 0.00001
NM_001346754.2(PIGW):c.951G>T (p.Met317Ile) rs756600566 0.00001
NM_001346754.2(PIGW):c.978G>T (p.Met326Ile) rs1367171449 0.00001
NM_001360.3(DHCR7):c.1002C>A (p.Thr334=) rs778753729 0.00001
NM_001360.3(DHCR7):c.1054C>T (p.Arg352Trp) rs80338860 0.00001
NM_001360.3(DHCR7):c.1083C>A (p.Phe361Leu) rs780088227 0.00001
NM_001360.3(DHCR7):c.1084C>T (p.Arg362Cys) rs371302153 0.00001
NM_001360.3(DHCR7):c.1085G>A (p.Arg362His) rs142213147 0.00001
NM_001360.3(DHCR7):c.1138T>C (p.Cys380Arg) rs373306653 0.00001
NM_001360.3(DHCR7):c.1139G>A (p.Cys380Tyr) rs779709646 0.00001
NM_001360.3(DHCR7):c.1146C>A (p.Tyr382Ter) rs1555145605 0.00001
NM_001360.3(DHCR7):c.1152C>T (p.Ser384=) rs145084285 0.00001
NM_001360.3(DHCR7):c.1203C>T (p.Gly401=) rs368867929 0.00001
NM_001360.3(DHCR7):c.1219A>T (p.Asn407Tyr) rs770819693 0.00001
NM_001360.3(DHCR7):c.1220A>G (p.Asn407Ser) rs746591926 0.00001
NM_001360.3(DHCR7):c.1221C>A (p.Asn407Lys) rs1481450955 0.00001
NM_001360.3(DHCR7):c.1222T>C (p.Tyr408His) rs1046560765 0.00001
NM_001360.3(DHCR7):c.1225G>A (p.Val409Ile) rs757861528 0.00001
NM_001360.3(DHCR7):c.1227C>T (p.Val409=) rs1012396683 0.00001
NM_001360.3(DHCR7):c.1251C>T (p.Ala417=) rs767043016 0.00001
NM_001360.3(DHCR7):c.1277A>C (p.His426Pro) rs1354718634 0.00001
NM_001360.3(DHCR7):c.1284G>A (p.Leu428=) rs746928218 0.00001
NM_001360.3(DHCR7):c.1327C>T (p.Arg443Cys) rs535561852 0.00001
NM_001360.3(DHCR7):c.1328G>T (p.Arg443Leu) rs781687341 0.00001
NM_001360.3(DHCR7):c.1338G>C (p.Arg446=) rs201716149 0.00001
NM_001360.3(DHCR7):c.1392C>T (p.Ala464=) rs368281869 0.00001
NM_001360.3(DHCR7):c.1396G>A (p.Val466Met) rs760428437 0.00001
NM_001360.3(DHCR7):c.1409T>A (p.Leu470Gln) rs1331331095 0.00001
NM_001360.3(DHCR7):c.1424T>C (p.Phe475Ser) rs1478872904 0.00001
NM_001360.3(DHCR7):c.1427A>G (p.Ter476=) rs1202619413 0.00001
NM_001360.3(DHCR7):c.151C>T (p.Pro51Ser) rs104886035 0.00001
NM_001360.3(DHCR7):c.153C>T (p.Pro51=) rs777966196 0.00001
NM_001360.3(DHCR7):c.225C>T (p.Ile75=) rs755182484 0.00001
NM_001360.3(DHCR7):c.226G>A (p.Val76Ile) rs368473756 0.00001
NM_001360.3(DHCR7):c.232G>A (p.Gly78Arg) rs373352413 0.00001
NM_001360.3(DHCR7):c.255C>T (p.Ile85=) rs1013040669 0.00001
NM_001360.3(DHCR7):c.273T>C (p.Pro91=) rs772671149 0.00001
NM_001360.3(DHCR7):c.291C>T (p.Ala97=) rs780909138 0.00001
NM_001360.3(DHCR7):c.292C>T (p.Gln98Ter) rs104886039 0.00001
NM_001360.3(DHCR7):c.322-7G>A rs1359774813 0.00001
NM_001360.3(DHCR7):c.326T>C (p.Leu109Pro) rs121912195 0.00001
NM_001360.3(DHCR7):c.342C>A (p.Leu114=) rs773047702 0.00001
NM_001360.3(DHCR7):c.412+3A>T rs786200926 0.00001
NM_001360.3(DHCR7):c.412+4G>A rs776841323 0.00001
NM_001360.3(DHCR7):c.413-2A>G rs775575609 0.00001
NM_001360.3(DHCR7):c.442C>T (p.Leu148=) rs758693177 0.00001
NM_001360.3(DHCR7):c.45A>G (p.Leu15=) rs150214075 0.00001
NM_001360.3(DHCR7):c.470T>C (p.Leu157Pro) rs753960624 0.00001
NM_001360.3(DHCR7):c.484G>A (p.Ala162Thr) rs767716202 0.00001
NM_001360.3(DHCR7):c.504C>T (p.Phe168=) rs1949345995 0.00001
NM_001360.3(DHCR7):c.506C>T (p.Ser169Leu) rs80338855 0.00001
NM_001360.3(DHCR7):c.513C>T (p.Thr171=) rs566499249 0.00001
NM_001360.3(DHCR7):c.51C>T (p.Gly17=) rs776713087 0.00001
NM_001360.3(DHCR7):c.521T>C (p.Phe174Ser) rs769218623 0.00001
NM_001360.3(DHCR7):c.52G>A (p.Val18Ile) rs770947907 0.00001
NM_001360.3(DHCR7):c.579C>G (p.Thr193=) rs778664009 0.00001
NM_001360.3(DHCR7):c.616G>A (p.Ala206Thr) rs542744675 0.00001
NM_001360.3(DHCR7):c.627-1G>A rs1057517210 0.00001
NM_001360.3(DHCR7):c.651C>A (p.Tyr217Ter) rs749076525 0.00001
NM_001360.3(DHCR7):c.655T>G (p.Tyr219Asp) rs779896782 0.00001
NM_001360.3(DHCR7):c.658A>T (p.Met220Leu) rs200659923 0.00001
NM_001360.3(DHCR7):c.669C>T (p.Ile223=) rs879926326 0.00001
NM_001360.3(DHCR7):c.670G>A (p.Glu224Lys) rs373121544 0.00001
NM_001360.3(DHCR7):c.709C>T (p.Leu237=) rs755941916 0.00001
NM_001360.3(DHCR7):c.714C>T (p.Phe238=) rs1388550299 0.00001
NM_001360.3(DHCR7):c.727C>T (p.Pro243Ser) rs1329227520 0.00001
NM_001360.3(DHCR7):c.728C>G (p.Pro243Arg) rs777248132 0.00001
NM_001360.3(DHCR7):c.738C>T (p.Val246=) rs536834609 0.00001
NM_001360.3(DHCR7):c.756C>T (p.Asn252=) rs774666247 0.00001
NM_001360.3(DHCR7):c.771G>A (p.Ala257=) rs200232012 0.00001
NM_001360.3(DHCR7):c.783G>A (p.Glu261=) rs778674271 0.00001
NM_001360.3(DHCR7):c.823G>A (p.Val275Ile) rs775628929 0.00001
NM_001360.3(DHCR7):c.82C>T (p.Gln28Ter) rs756564881 0.00001
NM_001360.3(DHCR7):c.831+2T>A rs1057516920 0.00001
NM_001360.3(DHCR7):c.831+7G>A rs1318919210 0.00001
NM_001360.3(DHCR7):c.841G>A (p.Val281Met) rs398123607 0.00001
NM_001360.3(DHCR7):c.866C>T (p.Thr289Ile) rs121909765 0.00001
NM_001360.3(DHCR7):c.867C>T (p.Thr289=) rs761602799 0.00001
NM_001360.3(DHCR7):c.870G>A (p.Trp290Ter) rs774187452 0.00001
NM_001360.3(DHCR7):c.882C>T (p.Thr294=) rs748858240 0.00001
NM_001360.3(DHCR7):c.888C>T (p.Asp296=) rs1208755285 0.00001
NM_001360.3(DHCR7):c.947A>G (p.Tyr316Cys) rs754992933 0.00001
NM_001360.3(DHCR7):c.954C>T (p.Tyr318=) rs1238806817 0.00001
NM_001360.3(DHCR7):c.963+7A>G rs775201083 0.00001
NM_001360.3(DHCR7):c.963+9G>A rs759043350 0.00001
NM_001360.3(DHCR7):c.964-10C>T rs753345689 0.00001
NM_001360.3(DHCR7):c.964-8C>T rs760035984 0.00001
NM_001360.3(DHCR7):c.98+10T>A rs1220918028 0.00001
NM_001360.3(DHCR7):c.98+20T>A rs1017429578 0.00001
NM_001360.3(DHCR7):c.99-7C>T rs1177383343 0.00001
NM_002641.4(PIGA):c.1046A>G (p.Glu349Gly) rs1174537633 0.00001
NM_002641.4(PIGA):c.1177A>G (p.Arg393Gly) rs781095752 0.00001
NM_002641.4(PIGA):c.1204T>G (p.Ser402Ala) rs192475811 0.00001
NM_002641.4(PIGA):c.1255C>T (p.His419Tyr) rs746591138 0.00001
NM_002641.4(PIGA):c.1308C>T (p.Phe436=) rs778444082 0.00001
NM_002641.4(PIGA):c.1338T>A (p.Thr446=) rs1437471008 0.00001
NM_002641.4(PIGA):c.1368T>C (p.Asp456=) rs761116405 0.00001
NM_002641.4(PIGA):c.1418G>C (p.Arg473Thr) rs773189052 0.00001
NM_002641.4(PIGA):c.1419A>G (p.Arg473=) rs776651457 0.00001
NM_002641.4(PIGA):c.1427A>G (p.Glu476Gly) rs775330646 0.00001
NM_002641.4(PIGA):c.1447A>G (p.Thr483Ala) rs745560847 0.00001
NM_002641.4(PIGA):c.182T>C (p.Ile61Thr) rs1006798135 0.00001
NM_002641.4(PIGA):c.250A>G (p.Thr84Ala) rs768321389 0.00001
NM_002641.4(PIGA):c.300G>T (p.Gln100His) rs757482806 0.00001
NM_002641.4(PIGA):c.305C>T (p.Thr102Ile) rs754050083 0.00001
NM_002641.4(PIGA):c.35G>A (p.Arg12His) rs1380833875 0.00001
NM_002641.4(PIGA):c.400A>G (p.Met134Val) rs1922154798 0.00001
NM_002641.4(PIGA):c.459C>T (p.Asp153=) rs1922153058 0.00001
NM_002641.4(PIGA):c.48A>G (p.Thr16=) rs772936689 0.00001
NM_002641.4(PIGA):c.526T>G (p.Cys176Gly) rs371466959 0.00001
NM_002641.4(PIGA):c.761A>G (p.Tyr254Cys) rs1279450118 0.00001
NM_002641.4(PIGA):c.848+17T>C rs758986672 0.00001
NM_002641.4(PIGA):c.849-10A>G rs1413431429 0.00001
NM_002641.4(PIGA):c.854G>A (p.Arg285His) rs1569178381 0.00001
NM_002641.4(PIGA):c.873A>G (p.Glu291=) rs757121631 0.00001
NM_002641.4(PIGA):c.879G>A (p.Lys293=) rs777674120 0.00001
NM_002641.4(PIGA):c.91C>T (p.Arg31Cys) rs780532806 0.00001
NM_002641.4(PIGA):c.981+5A>G rs994376694 0.00001
NM_002641.4(PIGA):c.981+9C>T rs377014685 0.00001
NM_022436.3(ABCG5):c.1049C>T (p.Thr350Met) rs148131742 0.00001
NM_022436.3(ABCG5):c.1218G>A (p.Arg406=) rs146992652 0.00001
NM_022436.3(ABCG5):c.121C>G (p.Leu41Val) rs1030894919 0.00001
NM_022436.3(ABCG5):c.1222C>T (p.Arg408Ter) rs119479065 0.00001
NM_022436.3(ABCG5):c.1285G>A (p.Ala429Thr) rs779125742 0.00001
NM_022436.3(ABCG5):c.1358G>C (p.Ser453Thr) rs778497502 0.00001
NM_022436.3(ABCG5):c.1366G>A (p.Gly456Ser) rs200378113 0.00001
NM_022436.3(ABCG5):c.1374C>G (p.Tyr458Ter) rs1558738919 0.00001
NM_022436.3(ABCG5):c.1419C>A (p.Pro473=) rs377076958 0.00001
NM_022436.3(ABCG5):c.1446C>T (p.Phe482=) rs886044572 0.00001
NM_022436.3(ABCG5):c.1602G>C (p.Val534=) rs1280735521 0.00001
NM_022436.3(ABCG5):c.1711T>C (p.Cys571Arg) rs370371131 0.00001
NM_022436.3(ABCG5):c.1775T>C (p.Val592Ala) rs777055543 0.00001
NM_022436.3(ABCG5):c.1878T>C (p.Ile626=) rs768890956 0.00001
NM_022436.3(ABCG5):c.265+13A>G rs911042257 0.00001
NM_022436.3(ABCG5):c.281C>G (p.Thr94Arg) rs558993616 0.00001
NM_022436.3(ABCG5):c.2T>C (p.Met1Thr) rs745785626 0.00001
NM_022436.3(ABCG5):c.33G>T (p.Gly11=) rs200471843 0.00001
NM_022436.3(ABCG5):c.342T>C (p.Tyr114=) rs1391862638 0.00001
NM_022436.3(ABCG5):c.365G>A (p.Arg122Gln) rs555463051 0.00001
NM_022436.3(ABCG5):c.411C>T (p.Thr137=) rs1454183075 0.00001
NM_022436.3(ABCG5):c.634A>G (p.Lys212Glu) rs772952717 0.00001
NM_022436.3(ABCG5):c.642G>A (p.Met214Ile) rs1369776473 0.00001
NM_022436.3(ABCG5):c.780T>C (p.Phe260=) rs765847597 0.00001
NM_022436.3(ABCG5):c.828G>A (p.Thr276=) rs539178581 0.00001
NM_022436.3(ABCG5):c.940C>T (p.Arg314Trp) rs142971825 0.00001
NM_022436.3(ABCG5):c.941G>A (p.Arg314Gln) rs544541406 0.00001
NM_022436.3(ABCG5):c.975A>G (p.Ile325Met) rs1296464024 0.00001
NM_032634.4(PIGO):c.1046C>T (p.Ser349Leu) rs371657025 0.00001
NM_032634.4(PIGO):c.1049G>C (p.Gly350Ala) rs368691880 0.00001
NM_032634.4(PIGO):c.1083A>G (p.Leu361=) rs773370567 0.00001
NM_032634.4(PIGO):c.1087C>T (p.Gln363Ter) rs1829507609 0.00001
NM_032634.4(PIGO):c.1109A>G (p.Asn370Ser) rs1214104267 0.00001
NM_032634.4(PIGO):c.1119+11G>A rs781071758 0.00001
NM_032634.4(PIGO):c.1122G>A (p.Val374=) rs549662606 0.00001
NM_032634.4(PIGO):c.1136A>C (p.His379Pro) rs1285901155 0.00001
NM_032634.4(PIGO):c.113A>G (p.His38Arg) rs993053284 0.00001
NM_032634.4(PIGO):c.1151C>T (p.Ala384Val) rs745507962 0.00001
NM_032634.4(PIGO):c.1177C>T (p.Leu393Phe) rs748782878 0.00001
NM_032634.4(PIGO):c.1199T>C (p.Phe400Ser) rs1322962283 0.00001
NM_032634.4(PIGO):c.1222C>T (p.Gln408Ter) rs750636989 0.00001
NM_032634.4(PIGO):c.1255G>A (p.Ala419Thr) rs879658217 0.00001
NM_032634.4(PIGO):c.1256C>T (p.Ala419Val) rs777439274 0.00001
NM_032634.4(PIGO):c.1269T>C (p.Thr423=) rs1399537198 0.00001
NM_032634.4(PIGO):c.1283T>A (p.Leu428Gln) rs182396158 0.00001
NM_032634.4(PIGO):c.1307G>A (p.Arg436Gln) rs772960218 0.00001
NM_032634.4(PIGO):c.1321G>A (p.Glu441Lys) rs148970282 0.00001
NM_032634.4(PIGO):c.1333C>T (p.Arg445Cys) rs779260324 0.00001
NM_032634.4(PIGO):c.1348C>T (p.Arg450Cys) rs756670230 0.00001
NM_032634.4(PIGO):c.1355C>T (p.Ala452Val) rs767418527 0.00001
NM_032634.4(PIGO):c.1356G>C (p.Ala452=) rs759532728 0.00001
NM_032634.4(PIGO):c.1359G>A (p.Gly453=) rs368706055 0.00001
NM_032634.4(PIGO):c.1363A>G (p.Thr455Ala) rs766309374 0.00001
NM_032634.4(PIGO):c.1367C>T (p.Ala456Val) rs202109643 0.00001
NM_032634.4(PIGO):c.1369C>G (p.Leu457Val) rs769460289 0.00001
NM_032634.4(PIGO):c.1416A>T (p.Ala472=) rs749630366 0.00001
NM_032634.4(PIGO):c.1441C>T (p.Pro481Ser) rs146556990 0.00001
NM_032634.4(PIGO):c.1444C>T (p.Leu482=) rs1348890946 0.00001
NM_032634.4(PIGO):c.1526A>T (p.Asp509Val) rs1307463691 0.00001
NM_032634.4(PIGO):c.1549G>A (p.Ala517Thr) rs781222643 0.00001
NM_032634.4(PIGO):c.1607A>G (p.Lys536Arg) rs559748160 0.00001
NM_032634.4(PIGO):c.1612C>G (p.Pro538Ala) rs763462649 0.00001
NM_032634.4(PIGO):c.1618G>C (p.Ala540Pro) rs1404216766 0.00001
NM_032634.4(PIGO):c.1622C>T (p.Thr541Ile) rs748438924 0.00001
NM_032634.4(PIGO):c.1644C>T (p.Pro548=) rs776953036 0.00001
NM_032634.4(PIGO):c.1708G>A (p.Ala570Thr) rs767046819 0.00001
NM_032634.4(PIGO):c.1718C>T (p.Thr573Ile) rs185911232 0.00001
NM_032634.4(PIGO):c.1720C>T (p.Pro574Ser) rs765632190 0.00001
NM_032634.4(PIGO):c.1737A>G (p.Ser579=) rs775812284 0.00001
NM_032634.4(PIGO):c.1809C>T (p.Pro603=) rs148443358 0.00001
NM_032634.4(PIGO):c.1844G>A (p.Arg615Gln) rs142897141 0.00001
NM_032634.4(PIGO):c.1869G>A (p.Arg623=) rs1377334648 0.00001
NM_032634.4(PIGO):c.1884G>A (p.Leu628=) rs746618634 0.00001
NM_032634.4(PIGO):c.1904C>G (p.Ala635Gly) rs1829445064 0.00001
NM_032634.4(PIGO):c.1916A>G (p.His639Arg) rs1829444705 0.00001
NM_032634.4(PIGO):c.1945C>T (p.His649Tyr) rs759688557 0.00001
NM_032634.4(PIGO):c.1955C>A (p.Pro652His) rs375182208 0.00001
NM_032634.4(PIGO):c.2030T>C (p.Leu677Pro) rs1587164392 0.00001
NM_032634.4(PIGO):c.2039T>C (p.Leu680Pro) rs766592273 0.00001
NM_032634.4(PIGO):c.2050G>A (p.Val684Met) rs761745437 0.00001
NM_032634.4(PIGO):c.2065C>T (p.Arg689Cys) rs775041042 0.00001
NM_032634.4(PIGO):c.2069G>A (p.Arg690His) rs778578535 0.00001
NM_032634.4(PIGO):c.206G>A (p.Arg69Gln) rs1479047885 0.00001
NM_032634.4(PIGO):c.2080C>A (p.Leu694Ile) rs1489661507 0.00001
NM_032634.4(PIGO):c.2082C>G (p.Leu694=) rs781688792 0.00001
NM_032634.4(PIGO):c.2091C>T (p.Pro697=) rs751948800 0.00001
NM_032634.4(PIGO):c.2113C>T (p.Arg705Cys) rs551682667 0.00001
NM_032634.4(PIGO):c.2114G>A (p.Arg705His) rs761836966 0.00001
NM_032634.4(PIGO):c.2119G>A (p.Gly707Arg) rs1013394440 0.00001
NM_032634.4(PIGO):c.2168C>T (p.Ser723Leu) rs1554672556 0.00001
NM_032634.4(PIGO):c.217G>T (p.Val73Leu) rs371057978 0.00001
NM_032634.4(PIGO):c.2233C>T (p.Arg745Trp) rs762428877 0.00001
NM_032634.4(PIGO):c.2234G>A (p.Arg745Gln) rs371317684 0.00001
NM_032634.4(PIGO):c.2235G>A (p.Arg745=) rs1286743624 0.00001
NM_032634.4(PIGO):c.2253T>C (p.Ala751=) rs775929587 0.00001
NM_032634.4(PIGO):c.2285C>T (p.Pro762Leu) rs767539954 0.00001
NM_032634.4(PIGO):c.2313A>G (p.Ala771=) rs764827608 0.00001
NM_032634.4(PIGO):c.2316C>T (p.Gly772=) rs761210725 0.00001
NM_032634.4(PIGO):c.2347T>C (p.Phe783Leu) rs1314015092 0.00001
NM_032634.4(PIGO):c.2355C>T (p.Gly785=) rs766309673 0.00001
NM_032634.4(PIGO):c.2360C>G (p.Pro787Arg) rs1396329353 0.00001
NM_032634.4(PIGO):c.237A>G (p.Arg79=) rs376966684 0.00001
NM_032634.4(PIGO):c.2405G>A (p.Arg802Gln) rs771347652 0.00001
NM_032634.4(PIGO):c.2411T>G (p.Met804Arg) rs763204004 0.00001
NM_032634.4(PIGO):c.2435T>C (p.Leu812Ser) rs746967719 0.00001
NM_032634.4(PIGO):c.2458C>T (p.Pro820Ser) rs1413004957 0.00001
NM_032634.4(PIGO):c.2461C>T (p.Leu821=) rs758257961 0.00001
NM_032634.4(PIGO):c.2474C>T (p.Ala825Val) rs750185627 0.00001
NM_032634.4(PIGO):c.2485G>A (p.Gly829Arg) rs149950408 0.00001
NM_032634.4(PIGO):c.2497T>G (p.Ser833Ala) rs931445470 0.00001
NM_032634.4(PIGO):c.2506A>G (p.Met836Val) rs752108320 0.00001
NM_032634.4(PIGO):c.2526G>T (p.Leu842=) rs1587161908 0.00001
NM_032634.4(PIGO):c.2555C>T (p.Ala852Val) rs768909165 0.00001
NM_032634.4(PIGO):c.2556G>A (p.Ala852=) rs1237736509 0.00001
NM_032634.4(PIGO):c.2574G>C (p.Val858=) rs188635839 0.00001
NM_032634.4(PIGO):c.2584C>G (p.Leu862Val) rs377645902 0.00001
NM_032634.4(PIGO):c.258G>A (p.Gln86=) rs113007517 0.00001
NM_032634.4(PIGO):c.2612A>C (p.His871Pro) rs909488930 0.00001
NM_032634.4(PIGO):c.2647+8T>C rs1413916804 0.00001
NM_032634.4(PIGO):c.2648-18G>A rs1187825054 0.00001
NM_032634.4(PIGO):c.2648-1G>A rs755750516 0.00001
NM_032634.4(PIGO):c.2663C>A (p.Pro888Gln) rs1829377572 0.00001
NM_032634.4(PIGO):c.2664A>G (p.Pro888=) rs780598733 0.00001
NM_032634.4(PIGO):c.2673A>G (p.Ala891=) rs754462625 0.00001
NM_032634.4(PIGO):c.2696C>G (p.Ala899Gly) rs774193694 0.00001
NM_032634.4(PIGO):c.2699C>T (p.Thr900Ile) rs770850061 0.00001
NM_032634.4(PIGO):c.272C>G (p.Pro91Arg) rs995820474 0.00001
NM_032634.4(PIGO):c.2747A>G (p.His916Arg) rs1331077224 0.00001
NM_032634.4(PIGO):c.2764G>A (p.Val922Met) rs756455405 0.00001
NM_032634.4(PIGO):c.2767G>A (p.Gly923Arg) rs1285786753 0.00001
NM_032634.4(PIGO):c.2773C>T (p.Pro925Ser) rs767750872 0.00001
NM_032634.4(PIGO):c.2792G>A (p.Cys931Tyr) rs891303491 0.00001
NM_032634.4(PIGO):c.2793T>C (p.Cys931=) rs1829368380 0.00001
NM_032634.4(PIGO):c.2803C>T (p.Pro935Ser) rs1160072970 0.00001
NM_032634.4(PIGO):c.2811G>A (p.Leu937=) rs1829367601 0.00001
NM_032634.4(PIGO):c.2817G>A (p.Val939=) rs371834214 0.00001
NM_032634.4(PIGO):c.2826C>T (p.Asn942=) rs1197727015 0.00001
NM_032634.4(PIGO):c.2852C>T (p.Ala951Val) rs761635526 0.00001
NM_032634.4(PIGO):c.2855-3C>T rs746026821 0.00001
NM_032634.4(PIGO):c.2874G>C (p.Leu958=) rs1269359376 0.00001
NM_032634.4(PIGO):c.2891G>A (p.Cys964Tyr) rs148648652 0.00001
NM_032634.4(PIGO):c.2995C>T (p.Arg999Trp) rs61746764 0.00001
NM_032634.4(PIGO):c.2996G>A (p.Arg999Gln) rs1160814644 0.00001
NM_032634.4(PIGO):c.3014T>C (p.Phe1005Ser) rs1829344388 0.00001
NM_032634.4(PIGO):c.3061G>A (p.Gly1021Ser) rs1006221471 0.00001
NM_032634.4(PIGO):c.3062G>C (p.Gly1021Ala) rs139423183 0.00001
NM_032634.4(PIGO):c.3069G>T (p.Gln1023His) rs746286276 0.00001
NM_032634.4(PIGO):c.3070-18C>T rs757401378 0.00001
NM_032634.4(PIGO):c.3135C>T (p.Ala1045=) rs771048903 0.00001
NM_032634.4(PIGO):c.3141-13C>T rs1308554473 0.00001
NM_032634.4(PIGO):c.3169G>T (p.Val1057Leu) rs1374835915 0.00001
NM_032634.4(PIGO):c.3198A>G (p.Ile1066Met) rs1205267378 0.00001
NM_032634.4(PIGO):c.324G>T (p.Gln108His) rs773937388 0.00001
NM_032634.4(PIGO):c.333G>A (p.Leu111=) rs1334218397 0.00001
NM_032634.4(PIGO):c.342G>T (p.Gln114His) rs1470054515 0.00001
NM_032634.4(PIGO):c.348C>T (p.His116=) rs1180613769 0.00001
NM_032634.4(PIGO):c.362A>G (p.Tyr121Cys) rs1283775272 0.00001
NM_032634.4(PIGO):c.371A>C (p.Gln124Pro) rs1204483753 0.00001
NM_032634.4(PIGO):c.372G>T (p.Gln124His) rs952844998 0.00001
NM_032634.4(PIGO):c.398A>G (p.Gln133Arg) rs1384669720 0.00001
NM_032634.4(PIGO):c.448G>A (p.Gly150Ser) rs774734630 0.00001
NM_032634.4(PIGO):c.459C>T (p.Phe153=) rs201331400 0.00001
NM_032634.4(PIGO):c.460G>A (p.Ala154Thr) rs201813691 0.00001
NM_032634.4(PIGO):c.469G>A (p.Ala157Thr) rs542399310 0.00001
NM_032634.4(PIGO):c.477G>A (p.Val159=) rs761159621 0.00001
NM_032634.4(PIGO):c.484A>G (p.Asn162Asp) rs776095449 0.00001
NM_032634.4(PIGO):c.490A>G (p.Ile164Val) rs1425816362 0.00001
NM_032634.4(PIGO):c.511G>T (p.Gly171Ter) rs1247927038 0.00001
NM_032634.4(PIGO):c.512-7C>T rs760113080 0.00001
NM_032634.4(PIGO):c.531G>A (p.Met177Ile) rs769886723 0.00001
NM_032634.4(PIGO):c.579T>C (p.Ala193=) rs778672240 0.00001
NM_032634.4(PIGO):c.588C>T (p.Phe196=) rs753452597 0.00001
NM_032634.4(PIGO):c.594C>A (p.Ser198=) rs945097037 0.00001
NM_032634.4(PIGO):c.618A>G (p.Thr206=) rs1829567186 0.00001
NM_032634.4(PIGO):c.651C>A (p.Pro217=) rs1215068157 0.00001
NM_032634.4(PIGO):c.655+12G>A rs1396401104 0.00001
NM_032634.4(PIGO):c.693C>G (p.Phe231Leu) rs1587173214 0.00001
NM_032634.4(PIGO):c.698G>A (p.Gly233Asp) rs1210708486 0.00001
NM_032634.4(PIGO):c.710G>T (p.Cys237Phe) rs773052205 0.00001
NM_032634.4(PIGO):c.739G>A (p.Glu247Lys) rs1266167213 0.00001
NM_032634.4(PIGO):c.749A>G (p.Lys250Arg) rs200782253 0.00001
NM_032634.4(PIGO):c.773del (p.Val258fs) rs765723177 0.00001
NM_032634.4(PIGO):c.777C>T (p.Ile259=) rs752829826 0.00001
NM_032634.4(PIGO):c.780-17C>T rs201657567 0.00001
NM_032634.4(PIGO):c.780-7C>T rs751631767 0.00001
NM_032634.4(PIGO):c.782G>C (p.Gly261Ala) rs762970543 0.00001
NM_032634.4(PIGO):c.793C>T (p.Arg265Cys) rs765131021 0.00001
NM_032634.4(PIGO):c.817G>A (p.Val273Ile) rs776286607 0.00001
NM_032634.4(PIGO):c.828G>C (p.Gly276=) rs1487288215 0.00001
NM_032634.4(PIGO):c.852A>G (p.Gly284=) rs1371825838 0.00001
NM_032634.4(PIGO):c.890C>G (p.Ala297Gly) rs760357843 0.00001
NM_032634.4(PIGO):c.902A>G (p.Tyr301Cys) rs771571749 0.00001
NM_032634.4(PIGO):c.907C>T (p.Pro303Ser) rs1175305039 0.00001
NM_032634.4(PIGO):c.937G>C (p.Glu313Gln) rs747260799 0.00001
NM_032634.4(PIGO):c.939+10G>A rs1587170803 0.00001
NM_032634.4(PIGO):c.939+18C>T rs1173858609 0.00001
NM_032634.4(PIGO):c.95G>A (p.Arg32His) rs550039576 0.00001
NM_032634.4(PIGO):c.961G>C (p.Val321Leu) rs1829514232 0.00001
NM_032634.4(PIGO):c.978G>A (p.Thr326=) rs1423655238 0.00001
NM_032634.4(PIGO):c.984C>T (p.Ala328=) rs774644826 0.00001
NC_000002.11:g.(?_219646906)_(219647180_?)del
NC_000002.11:g.(?_219646906)_(219738567_?)del
NC_000002.11:g.(?_219674280)_(219674510_?)del
NC_000002.11:g.(?_219674280)_(219677492_?)del
NC_000002.11:g.(?_219674280)_(219679753_?)del
NC_000002.11:g.(?_219679083)_(219679753_?)del
NC_000002.11:g.(?_219679093)_(219679763_?)del
NC_000002.11:g.(?_44001278)_(44209593_?)dup
NC_000002.11:g.(?_44040255)_(44041748_?)del
NC_000002.11:g.(?_44047034)_(44047259_?)del
NC_000002.11:g.(?_44047116)_(44053814_?)del
NC_000002.11:g.(?_44065656)_(44105052_?)del
NC_000002.12:g.(?_218809567)_(218809777_?)del
NC_000002.12:g.218812223dup
NC_000004.11:g.(?_124553)_(502759_?)dup
NC_000004.11:g.(?_493105)_(499736_?)dup
NC_000004.11:g.(?_493105)_(502779_?)dup
NC_000004.11:g.(?_493105)_(533178_?)del
NC_000004.11:g.(?_493105)_(533178_?)dup
NC_000004.11:g.(?_493125)_(499726_?)dup
NC_000004.11:g.(?_493125)_(499736_?)dup
NC_000004.11:g.(?_493125)_(501402_?)del
NC_000004.11:g.(?_493125)_(517722_?)dup
NC_000004.11:g.(?_493125)_(533158_?)dup
NC_000004.11:g.(?_493125)_(663896_?)del
NC_000004.11:g.(?_493125)_(998181_?)del
NC_000004.11:g.(?_494165)_(494410_?)del
NC_000004.11:g.(?_501174)_(533158_?)del
NC_000004.11:g.(?_502598)_(509994_?)del
NC_000004.11:g.(?_509742)_(533158_?)del
NC_000004.11:g.(?_514825)_(533158_?)dup
NC_000004.11:g.(?_520808)_(1020391_?)del
NC_000004.11:g.(?_524205)_(527790_?)del
NC_000004.11:g.(?_524205)_(533158_?)dup
NC_000004.11:g.(?_527587)_(533178_?)del
NC_000004.11:g.(?_532922)_(533158_?)del
NC_000009.11:g.(?_34458984)_(35809462_?)del
NC_000009.11:g.(?_34458984)_(35809462_?)dup
NC_000009.11:g.(?_34459004)_(36276941_?)del
NC_000010.10:g.(?_90974565)_(91007425_?)del
NC_000010.10:g.(?_90974575)_(90975776_?)del
NC_000010.10:g.(?_90974585)_(90974838_?)del
NC_000010.10:g.(?_90974585)_(90975786_?)del
NC_000010.10:g.(?_90974585)_(90988175_?)del
NC_000010.10:g.(?_90974585)_(91007408_?)del
NC_000010.10:g.(?_90974585)_(91222335_?)dup
NC_000010.10:g.(?_90982258)_(90988165_?)del
NC_000010.10:g.(?_90988092)_(90997504_?)del
NC_000010.10:g.(?_91005423)_(91007415_?)del
NC_000010.11:g.(?_89214808)_(89216029_?)del
NC_000010.11:g.(?_89228180)_(89228418_?)del
NC_000010.11:g.(?_89228190)_(89228408_?)del
NC_000011.10:g.(?_71441217)_(71441450_?)del
NC_000011.10:g.(?_71441217)_(71444962_?)del
NC_000011.10:g.(?_71443983)_(71444962_?)del
NC_000011.9:g.(?_71146411)_(71146895_?)del
NC_000011.9:g.(?_71146411)_(71152496_?)del
NC_000011.9:g.(?_71146411)_(71156008_?)del
NC_000011.9:g.(?_71146421)_(71149009_?)del
NC_000011.9:g.(?_71146674)_(71155299_?)del
NC_000011.9:g.(?_71148848)_(71148999_?)del
NC_000011.9:g.(?_71152249)_(71153318_?)del
NC_000012.11:g.(?_109921357)_(110034382_?)dup
NC_000012.11:g.(?_110012646)_110013970del
NC_000012.11:g.(?_110013783)_(110013970_?)del
NC_000012.11:g.(?_110028556)_(110029182_?)del
NC_000012.11:g.(?_110032813)_(110034382_?)del
NC_000012.11:g.(?_110032813)_(110034402_?)del
NC_000017.10:g.(?_34856670)_(35478412_?)del
NC_000017.10:g.(?_34863642)_(34916711_?)dup
NC_000017.10:g.(?_34892951)_(34894465_?)dup
NC_000017.10:g.(?_34892951)_(36104875_?)del
NC_000017.10:g.(?_34892951)_(36104875_?)dup
NC_000017.11:g.(?_36537082)_(36538636_?)del
NC_000019.10:g.7535556G>A rs200591590
NC_000019.10:g.7535557G>A
NC_000019.10:g.7535562G>A
NC_000019.10:g.7535563_7535564delinsGG rs2022812491
NC_000019.10:g.7535564T>A rs1035379229
NC_000019.10:g.7535573G>A
NC_000019.10:g.7535576T>C
NC_000019.10:g.7535588G>C rs764534459
NC_000019.10:g.7535591C>A
NC_000019.10:g.7535591C>T rs2022814781
NC_000019.10:g.7535595G>A
NC_000019.10:g.7555609dup rs2146105309
NC_000019.9:g.(?_7527018)_(7624057_?)dup
NC_000019.9:g.(?_7604804)_(7607970_?)del
NC_000019.9:g.(?_7617787)_(7622096_?)del
NC_000019.9:g.(?_7618738)_(7619178_?)del
NC_000023.10:g.(?_14861689)_(15870650_?)del
NC_000023.10:g.(?_152014869)_(155171615_?)del
NC_000023.10:g.(?_152954030)_(154005142_?)del
NC_000023.10:g.(?_15339628)_(15870650_?)dup
NC_000023.10:g.(?_15349318)_(15353655_?)dup
NC_000023.10:g.(?_153592370)_(153775961_?)dup
NC_000023.10:g.(?_153639844)_(153642537_?)del
NC_000023.10:g.(?_153640161)_(153649363_?)del
NC_000023.10:g.(?_153640161)_(153649363_?)dup
NC_000023.10:g.(?_153640181)_(153642547_?)dup
NC_000023.10:g.(?_153640181)_(153775961_?)dup
NC_000023.10:g.(?_153641545)_(153648084_?)dup
NC_000023.10:g.(?_153647862)_(153649343_?)dup
NC_000023.10:g.(?_153647872)_(153650075_?)del
NC_000023.11:g.(?_15321486)_(15335533_?)dup
NM_000116.5(TAFAZZIN):c.100T>A (p.Phe34Ile)
NM_000116.5(TAFAZZIN):c.102C>T (p.Phe34=)
NM_000116.5(TAFAZZIN):c.109+15G>A
NM_000116.5(TAFAZZIN):c.109+15del
NM_000116.5(TAFAZZIN):c.109+20G>A
NM_000116.5(TAFAZZIN):c.109+5G>A rs2148185111
NM_000116.5(TAFAZZIN):c.109+8G>A rs2068315794
NM_000116.5(TAFAZZIN):c.110-15C>G
NM_000116.5(TAFAZZIN):c.110-18C>T
NM_000116.5(TAFAZZIN):c.110-19A>C
NM_000116.5(TAFAZZIN):c.110-20G>T
NM_000116.5(TAFAZZIN):c.110-2A>G rs1603376833
NM_000116.5(TAFAZZIN):c.113A>G (p.Tyr38Cys)
NM_000116.5(TAFAZZIN):c.117G>A (p.Met39Ile)
NM_000116.5(TAFAZZIN):c.127A>T (p.Thr43Ser)
NM_000116.5(TAFAZZIN):c.129C>A (p.Thr43=)
NM_000116.5(TAFAZZIN):c.129C>G (p.Thr43=)
NM_000116.5(TAFAZZIN):c.129del (p.Val44fs) rs2148186224
NM_000116.5(TAFAZZIN):c.132G>A (p.Val44=)
NM_000116.5(TAFAZZIN):c.135C>T (p.His45=)
NM_000116.5(TAFAZZIN):c.138C>T (p.Asn46=)
NM_000116.5(TAFAZZIN):c.13G>A (p.Val5Met)
NM_000116.5(TAFAZZIN):c.145G>C (p.Val49Leu)
NM_000116.5(TAFAZZIN):c.145del (p.Val49fs) rs1557191074
NM_000116.5(TAFAZZIN):c.150G>A (p.Leu50=)
NM_000116.5(TAFAZZIN):c.153C>A (p.Tyr51Ter)
NM_000116.5(TAFAZZIN):c.154G>C (p.Glu52Gln)
NM_000116.5(TAFAZZIN):c.154G>T (p.Glu52Ter) rs794729166
NM_000116.5(TAFAZZIN):c.162C>G (p.Ile54Met)
NM_000116.5(TAFAZZIN):c.177G>A (p.Pro59=)
NM_000116.5(TAFAZZIN):c.179C>T (p.Ala60Val)
NM_000116.5(TAFAZZIN):c.182C>T (p.Thr61Met)
NM_000116.5(TAFAZZIN):c.184C>T (p.Pro62Ser) rs2068328744
NM_000116.5(TAFAZZIN):c.186C>G (p.Pro62=)
NM_000116.5(TAFAZZIN):c.189C>T (p.Leu63=)
NM_000116.5(TAFAZZIN):c.18G>T (p.Lys6Asn)
NM_000116.5(TAFAZZIN):c.190A>C (p.Ile64Leu) rs1322365208
NM_000116.5(TAFAZZIN):c.1A>G (p.Met1Val)
NM_000116.5(TAFAZZIN):c.205C>A (p.His69Asn) rs2068329796
NM_000116.5(TAFAZZIN):c.216C>T (p.Cys72=) rs1557191148
NM_000116.5(TAFAZZIN):c.222C>G (p.Asp74Glu)
NM_000116.5(TAFAZZIN):c.223G>T (p.Asp75Tyr)
NM_000116.5(TAFAZZIN):c.227C>G (p.Pro76Arg) rs878853654
NM_000116.5(TAFAZZIN):c.227C>T (p.Pro76Leu) rs878853654
NM_000116.5(TAFAZZIN):c.228T>G (p.Pro76=)
NM_000116.5(TAFAZZIN):c.230A>G (p.His77Arg) rs794729173
NM_000116.5(TAFAZZIN):c.233T>A (p.Leu78His)
NM_000116.5(TAFAZZIN):c.236_238+5del rs2068331233
NM_000116.5(TAFAZZIN):c.238+10C>A
NM_000116.5(TAFAZZIN):c.238+14T>G
NM_000116.5(TAFAZZIN):c.238+1del
NM_000116.5(TAFAZZIN):c.238+2_238+9del rs1603376938
NM_000116.5(TAFAZZIN):c.238+6C>T rs781786197
NM_000116.5(TAFAZZIN):c.238+7G>A
NM_000116.5(TAFAZZIN):c.238+9G>C
NM_000116.5(TAFAZZIN):c.238G>A (p.Gly80Arg) rs1557191170
NM_000116.5(TAFAZZIN):c.239-11C>T
NM_000116.5(TAFAZZIN):c.239-16C>T
NM_000116.5(TAFAZZIN):c.239-17C>G
NM_000116.5(TAFAZZIN):c.239-17C>T
NM_000116.5(TAFAZZIN):c.239-18G>A
NM_000116.5(TAFAZZIN):c.239-19A>G
NM_000116.5(TAFAZZIN):c.239-6C>T
NM_000116.5(TAFAZZIN):c.239-6del rs1064794479
NM_000116.5(TAFAZZIN):c.239-7C>T rs2148190472
NM_000116.5(TAFAZZIN):c.243C>G (p.Ile81Met)
NM_000116.5(TAFAZZIN):c.24G>T (p.Pro8=)
NM_000116.5(TAFAZZIN):c.250C>T (p.Leu84Phe)
NM_000116.5(TAFAZZIN):c.252C>T (p.Leu84=)
NM_000116.5(TAFAZZIN):c.255C>T (p.Arg85=)
NM_000116.5(TAFAZZIN):c.258C>T (p.His86=)
NM_000116.5(TAFAZZIN):c.267C>T (p.Asn89=)
NM_000116.5(TAFAZZIN):c.273G>A (p.Lys91=)
NM_000116.5(TAFAZZIN):c.280C>T (p.Arg94Cys) rs104894942
NM_000116.5(TAFAZZIN):c.281G>A (p.Arg94His) rs1060500044
NM_000116.5(TAFAZZIN):c.281G>T (p.Arg94Leu) rs1060500044
NM_000116.5(TAFAZZIN):c.284+17C>T
NM_000116.5(TAFAZZIN):c.284+3G>C rs1569552708
NM_000116.5(TAFAZZIN):c.284+4A>T rs1603377638
NM_000116.5(TAFAZZIN):c.284+5G>A
NM_000116.5(TAFAZZIN):c.284+8_284+10del
NM_000116.5(TAFAZZIN):c.285-14C>T
NM_000116.5(TAFAZZIN):c.285-19T>C
NM_000116.5(TAFAZZIN):c.285-5C>T
NM_000116.5(TAFAZZIN):c.28C>T (p.Pro10Ser)
NM_000116.5(TAFAZZIN):c.293C>T (p.Ala98Val)
NM_000116.5(TAFAZZIN):c.293_294insTTAGGACCCC (p.Ala98_Ala99insTer) rs2148191858
NM_000116.5(TAFAZZIN):c.294A>T (p.Ala98=) rs2148191873
NM_000116.5(TAFAZZIN):c.299C>T (p.Ala100Val) rs1569552722
NM_000116.5(TAFAZZIN):c.29C>G (p.Pro10Arg) rs781941217
NM_000116.5(TAFAZZIN):c.308G>A (p.Cys103Tyr)
NM_000116.5(TAFAZZIN):c.30C>T (p.Pro10=)
NM_000116.5(TAFAZZIN):c.314C>T (p.Thr105Ile)
NM_000116.5(TAFAZZIN):c.322C>A (p.Leu108Ile)
NM_000116.5(TAFAZZIN):c.322C>T (p.Leu108=)
NM_000116.5(TAFAZZIN):c.327C>T (p.His109=) rs1569552726
NM_000116.5(TAFAZZIN):c.334T>C (p.Phe112Leu) rs1281729528
NM_000116.5(TAFAZZIN):c.348C>G (p.Gly116=)
NM_000116.5(TAFAZZIN):c.360T>C (p.Pro120=)
NM_000116.5(TAFAZZIN):c.363G>A (p.Val121=)
NM_000116.5(TAFAZZIN):c.367C>T (p.Arg123Ter) rs1569552731
NM_000116.5(TAFAZZIN):c.368G>C (p.Arg123Pro)
NM_000116.5(TAFAZZIN):c.370+11C>T
NM_000116.5(TAFAZZIN):c.370+12del
NM_000116.5(TAFAZZIN):c.370+16A>G
NM_000116.5(TAFAZZIN):c.370+18C>T
NM_000116.5(TAFAZZIN):c.370+19G>A
NM_000116.5(TAFAZZIN):c.370+2T>A
NM_000116.5(TAFAZZIN):c.370+8G>T
NM_000116.5(TAFAZZIN):c.370G>A (p.Gly124Arg)
NM_000116.5(TAFAZZIN):c.370G>T (p.Gly124Ter) rs1603377945
NM_000116.5(TAFAZZIN):c.371-13C>G rs397515742
NM_000116.5(TAFAZZIN):c.371-17T>C
NM_000116.5(TAFAZZIN):c.371-19A>T
NM_000116.5(TAFAZZIN):c.371-4G>A
NM_000116.5(TAFAZZIN):c.371G>A (p.Gly124Glu)
NM_000116.5(TAFAZZIN):c.379T>G (p.Phe127Val)
NM_000116.5(TAFAZZIN):c.37C>T (p.Pro13Ser)
NM_000116.5(TAFAZZIN):c.380T>G (p.Phe127Cys) rs2068411768
NM_000116.5(TAFAZZIN):c.385C>T (p.Gln129Ter)
NM_000116.5(TAFAZZIN):c.387A>G (p.Gln129=)
NM_000116.5(TAFAZZIN):c.394A>T (p.Asn132Tyr)
NM_000116.5(TAFAZZIN):c.39G>T (p.Pro13=)
NM_000116.5(TAFAZZIN):c.3G>A (p.Met1Ile)
NM_000116.5(TAFAZZIN):c.408T>G (p.Gly136=)
NM_000116.5(TAFAZZIN):c.409G>A (p.Val137Ile) rs2068412679
NM_000116.5(TAFAZZIN):c.416A>T (p.Asp139Val) rs1603378339
NM_000116.5(TAFAZZIN):c.425_428del (p.Arg142fs) rs782253789
NM_000116.5(TAFAZZIN):c.429C>G (p.His143Gln)
NM_000116.5(TAFAZZIN):c.42G>T (p.Pro14=)
NM_000116.5(TAFAZZIN):c.456G>A (p.Glu152=)
NM_000116.5(TAFAZZIN):c.45C>T (p.Leu15=)
NM_000116.5(TAFAZZIN):c.460+10G>A
NM_000116.5(TAFAZZIN):c.460+10G>T
NM_000116.5(TAFAZZIN):c.460+17G>A
NM_000116.5(TAFAZZIN):c.460G>A (p.Gly154Arg) rs2068414496
NM_000116.5(TAFAZZIN):c.461-10_461-5del
NM_000116.5(TAFAZZIN):c.461-13C>A
NM_000116.5(TAFAZZIN):c.461-14C>A
NM_000116.5(TAFAZZIN):c.461-15G>A
NM_000116.5(TAFAZZIN):c.461-18G>A
NM_000116.5(TAFAZZIN):c.461-19A>G
NM_000116.5(TAFAZZIN):c.461-22_461-14del
NM_000116.5(TAFAZZIN):c.461-3C>A
NM_000116.5(TAFAZZIN):c.461-7C>T
NM_000116.5(TAFAZZIN):c.461-9T>G
NM_000116.5(TAFAZZIN):c.47C>G (p.Thr16Ser) rs1227132566
NM_000116.5(TAFAZZIN):c.483G>A (p.Gly161=) rs2148210856
NM_000116.5(TAFAZZIN):c.496T>C (p.Leu166=)
NM_000116.5(TAFAZZIN):c.504G>A (p.Lys168=) rs1057515818
NM_000116.5(TAFAZZIN):c.510C>T (p.Asn170=)
NM_000116.5(TAFAZZIN):c.517G>A (p.Asp173Asn)
NM_000116.5(TAFAZZIN):c.51G>T (p.Trp17Cys) rs1603376560
NM_000116.5(TAFAZZIN):c.524T>G (p.Val175Gly)
NM_000116.5(TAFAZZIN):c.528_541+7del rs2068570435
NM_000116.5(TAFAZZIN):c.534C>T (p.Phe178=)
NM_000116.5(TAFAZZIN):c.536del (p.Pro179fs)
NM_000116.5(TAFAZZIN):c.53C>T (p.Thr18Ile)
NM_000116.5(TAFAZZIN):c.541+10G>A rs1396794207
NM_000116.5(TAFAZZIN):c.541+13G>A
NM_000116.5(TAFAZZIN):c.541+13_541+28del
NM_000116.5(TAFAZZIN):c.541+16T>C
NM_000116.5(TAFAZZIN):c.541+20_541+40dup
NM_000116.5(TAFAZZIN):c.541+3C>G rs1557193865
NM_000116.5(TAFAZZIN):c.541+5G>A rs2068571041
NM_000116.5(TAFAZZIN):c.541+8G>A
NM_000116.5(TAFAZZIN):c.541G>A (p.Gly181Arg)
NM_000116.5(TAFAZZIN):c.542-10C>T
NM_000116.5(TAFAZZIN):c.542-2A>G rs2068574381
NM_000116.5(TAFAZZIN):c.542-3C>T
NM_000116.5(TAFAZZIN):c.542-6C>T
NM_000116.5(TAFAZZIN):c.542-9T>C
NM_000116.5(TAFAZZIN):c.542G>A (p.Gly181Glu) rs2068574531
NM_000116.5(TAFAZZIN):c.543G>C (p.Gly181=)
NM_000116.5(TAFAZZIN):c.549G>T (p.Val183=)
NM_000116.5(TAFAZZIN):c.552C>T (p.Asn184=)
NM_000116.5(TAFAZZIN):c.553A>G (p.Met185Val)
NM_000116.5(TAFAZZIN):c.561C>T (p.Ser187=) rs36005334
NM_000116.5(TAFAZZIN):c.562G>T (p.Glu188Ter)
NM_000116.5(TAFAZZIN):c.572G>A (p.Arg191His) rs876661034
NM_000116.5(TAFAZZIN):c.572G>C (p.Arg191Pro)
NM_000116.5(TAFAZZIN):c.575del (p.Phe192fs)
NM_000116.5(TAFAZZIN):c.578A>T (p.Lys193Met)
NM_000116.5(TAFAZZIN):c.579G>A (p.Lys193=)
NM_000116.5(TAFAZZIN):c.580_583+10del
NM_000116.5(TAFAZZIN):c.582G>A (p.Trp194Ter) rs794729167
NM_000116.5(TAFAZZIN):c.583G>A (p.Gly195Arg) rs878853656
NM_000116.5(TAFAZZIN):c.584-10C>T
NM_000116.5(TAFAZZIN):c.584-11C>A
NM_000116.5(TAFAZZIN):c.584-15C>G
NM_000116.5(TAFAZZIN):c.584-1G>A
NM_000116.5(TAFAZZIN):c.584-8C>T
NM_000116.5(TAFAZZIN):c.584-9C>A rs2068583124
NM_000116.5(TAFAZZIN):c.584-9C>G
NM_000116.5(TAFAZZIN):c.584-9C>T
NM_000116.5(TAFAZZIN):c.584G>A (p.Gly195Glu)
NM_000116.5(TAFAZZIN):c.585A>T (p.Gly195=)
NM_000116.5(TAFAZZIN):c.586A>G (p.Ile196Val)
NM_000116.5(TAFAZZIN):c.586del (p.Ile196fs)
NM_000116.5(TAFAZZIN):c.588C>T (p.Ile196=)
NM_000116.5(TAFAZZIN):c.589G>A (p.Gly197Arg) rs132630277
NM_000116.5(TAFAZZIN):c.590G>A (p.Gly197Glu) rs397515746
NM_000116.5(TAFAZZIN):c.594C>A (p.Arg198=) rs797040235
NM_000116.5(TAFAZZIN):c.594C>G (p.Arg198=) rs797040235
NM_000116.5(TAFAZZIN):c.594C>T (p.Arg198=) rs797040235
NM_000116.5(TAFAZZIN):c.597G>C (p.Leu199=)
NM_000116.5(TAFAZZIN):c.608G>A (p.Cys203Tyr)
NM_000116.5(TAFAZZIN):c.611A>G (p.His204Arg)
NM_000116.5(TAFAZZIN):c.613C>A (p.Leu205Ile)
NM_000116.5(TAFAZZIN):c.628C>T (p.Leu210=) rs782162647
NM_000116.5(TAFAZZIN):c.633C>T (p.Pro211=)
NM_000116.5(TAFAZZIN):c.642T>C (p.His214=)
NM_000116.5(TAFAZZIN):c.645C>T (p.Val215=)
NM_000116.5(TAFAZZIN):c.646+12G>A
NM_000116.5(TAFAZZIN):c.646+12del
NM_000116.5(TAFAZZIN):c.646+13A>T
NM_000116.5(TAFAZZIN):c.646+15G>A
NM_000116.5(TAFAZZIN):c.646+18G>A
NM_000116.5(TAFAZZIN):c.646+20C>G
NM_000116.5(TAFAZZIN):c.646+5G>T
NM_000116.5(TAFAZZIN):c.646+7C>T
NM_000116.5(TAFAZZIN):c.646+8T>C
NM_000116.5(TAFAZZIN):c.646G>A (p.Gly216Arg) rs1085307797
NM_000116.5(TAFAZZIN):c.647-14C>G
NM_000116.5(TAFAZZIN):c.647-16G>C
NM_000116.5(TAFAZZIN):c.647-9G>C
NM_000116.5(TAFAZZIN):c.647G>A (p.Gly216Glu) rs727504431
NM_000116.5(TAFAZZIN):c.657C>G (p.Asp219Glu) rs140751478
NM_000116.5(TAFAZZIN):c.658G>A (p.Val220Ile)
NM_000116.5(TAFAZZIN):c.678C>T (p.Pro226=) rs1603381820
NM_000116.5(TAFAZZIN):c.682T>C (p.Phe228Leu)
NM_000116.5(TAFAZZIN):c.684C>T (p.Phe228=)
NM_000116.5(TAFAZZIN):c.687C>T (p.Pro229=)
NM_000116.5(TAFAZZIN):c.690C>A (p.Arg230=)
NM_000116.5(TAFAZZIN):c.696A>G (p.Gly232=)
NM_000116.5(TAFAZZIN):c.697C>T (p.Gln233Ter) rs1603381860
NM_000116.5(TAFAZZIN):c.699+15C>T
NM_000116.5(TAFAZZIN):c.699+17G>A
NM_000116.5(TAFAZZIN):c.699+19C>T
NM_000116.5(TAFAZZIN):c.699+6T>G
NM_000116.5(TAFAZZIN):c.699+6del
NM_000116.5(TAFAZZIN):c.69C>G (p.Val23=)
NM_000116.5(TAFAZZIN):c.700-13G>A
NM_000116.5(TAFAZZIN):c.700-14C>T
NM_000116.5(TAFAZZIN):c.700-19C>G
NM_000116.5(TAFAZZIN):c.700-1del
NM_000116.5(TAFAZZIN):c.702A>G (p.Lys234=)
NM_000116.5(TAFAZZIN):c.705C>A (p.Ile235=)
NM_000116.5(TAFAZZIN):c.707C>T (p.Thr236Ile)
NM_000116.5(TAFAZZIN):c.708T>C (p.Thr236=)
NM_000116.5(TAFAZZIN):c.709G>A (p.Val237Met)
NM_000116.5(TAFAZZIN):c.711G>C (p.Val237=)
NM_000116.5(TAFAZZIN):c.717C>T (p.Ile239=)
NM_000116.5(TAFAZZIN):c.718G>A (p.Gly240Arg) rs387907218
NM_000116.5(TAFAZZIN):c.718G>T (p.Gly240Trp)
NM_000116.5(TAFAZZIN):c.723G>A (p.Lys241=) rs2148214484
NM_000116.5(TAFAZZIN):c.725C>T (p.Pro242Leu)
NM_000116.5(TAFAZZIN):c.727T>A (p.Phe243Ile)
NM_000116.5(TAFAZZIN):c.735C>T (p.Ala245=)
NM_000116.5(TAFAZZIN):c.745C>A (p.Leu249Ile)
NM_000116.5(TAFAZZIN):c.747C>G (p.Leu249=) rs376379156
NM_000116.5(TAFAZZIN):c.747C>T (p.Leu249=) rs376379156
NM_000116.5(TAFAZZIN):c.751C>G (p.Arg251Gly) rs372689133
NM_000116.5(TAFAZZIN):c.752G>A (p.Arg251Gln)
NM_000116.5(TAFAZZIN):c.754_763del (p.Leu252fs) rs1557194381
NM_000116.5(TAFAZZIN):c.757C>T (p.Arg253Trp) rs2068605582
NM_000116.5(TAFAZZIN):c.759G>A (p.Arg253=)
NM_000116.5(TAFAZZIN):c.773C>T (p.Ser258Leu) rs2068606445
NM_000116.5(TAFAZZIN):c.776C>T (p.Ala259Val)
NM_000116.5(TAFAZZIN):c.777+18T>C
NM_000116.5(TAFAZZIN):c.777+19C>T
NM_000116.5(TAFAZZIN):c.777+1G>A rs2068606932
NM_000116.5(TAFAZZIN):c.777+20C>T
NM_000116.5(TAFAZZIN):c.777+3G>A rs2068606988
NM_000116.5(TAFAZZIN):c.777+6T>C rs782175712
NM_000116.5(TAFAZZIN):c.778-17C>T
NM_000116.5(TAFAZZIN):c.778-63_778-51del rs782249471
NM_000116.5(TAFAZZIN):c.778-6C>A
NM_000116.5(TAFAZZIN):c.778-8del
NM_000116.5(TAFAZZIN):c.787C>T (p.Arg263Trp)
NM_000116.5(TAFAZZIN):c.788G>A (p.Arg263Gln)
NM_000116.5(TAFAZZIN):c.790A>G (p.Lys264Glu) rs1557194488
NM_000116.5(TAFAZZIN):c.796C>G (p.Leu266Val) rs1557194499
NM_000116.5(TAFAZZIN):c.800C>T (p.Thr267Met) rs1557194504
NM_000116.5(TAFAZZIN):c.801G>T (p.Thr267=)
NM_000116.5(TAFAZZIN):c.804del (p.Phe269fs)
NM_000116.5(TAFAZZIN):c.811C>T (p.Gln271Ter) rs1298362744
NM_000116.5(TAFAZZIN):c.812A>C (p.Gln271Pro)
NM_000116.5(TAFAZZIN):c.813A>G (p.Gln271=)
NM_000116.5(TAFAZZIN):c.816G>A (p.Glu272=)
NM_000116.5(TAFAZZIN):c.81G>T (p.Leu27Phe)
NM_000116.5(TAFAZZIN):c.823C>T (p.Gln275Ter) rs397515750
NM_000116.5(TAFAZZIN):c.836C>T (p.Thr279Ile)
NM_000116.5(TAFAZZIN):c.843_850del (p.Glu282fs)
NM_000116.5(TAFAZZIN):c.846G>A (p.Glu282=)
NM_000116.5(TAFAZZIN):c.849G>A (p.Gln283=)
NM_000116.5(TAFAZZIN):c.849G>C (p.Gln283His) rs1025920600
NM_000116.5(TAFAZZIN):c.84G>A (p.Val28=)
NM_000116.5(TAFAZZIN):c.855C>A (p.His285Gln)
NM_000116.5(TAFAZZIN):c.85G>C (p.Gly29Arg)
NM_000116.5(TAFAZZIN):c.861C>T (p.His287=)
NM_000116.5(TAFAZZIN):c.864C>G (p.Leu288=) rs1603382441
NM_000116.5(TAFAZZIN):c.872G>A (p.Gly291Glu)
NM_000116.5(TAFAZZIN):c.89C>T (p.Thr30Ile) rs2068315101
NM_000116.5(TAFAZZIN):c.90C>T (p.Thr30=)
NM_000116.5(TAFAZZIN):c.92A>G (p.Tyr31Cys)
NM_000116.5(TAFAZZIN):c.93C>T (p.Tyr31=)
NM_000116.5(TAFAZZIN):c.98G>T (p.Cys33Phe)
NM_000235.4(LIPA):c.1002T>C (p.Leu334=) rs1842606079
NM_000235.4(LIPA):c.1004T>C (p.Val335Ala)
NM_000235.4(LIPA):c.1005G>A (p.Val335=) rs1564748606
NM_000235.4(LIPA):c.1007C>T (p.Pro336Leu)
NM_000235.4(LIPA):c.1020G>T (p.Trp340Cys) rs1842605430
NM_000235.4(LIPA):c.1024G>C (p.Gly342Arg) rs776472526
NM_000235.4(LIPA):c.1026G>C (p.Gly342=)
NM_000235.4(LIPA):c.1027_1029dup (p.Gly343dup) rs2133411859
NM_000235.4(LIPA):c.1028G>A (p.Gly343Asp)
NM_000235.4(LIPA):c.1031A>G (p.His344Arg)
NM_000235.4(LIPA):c.1032C>G (p.His344Gln) rs779601441
NM_000235.4(LIPA):c.1032C>T (p.His344=) rs779601441
NM_000235.4(LIPA):c.1033G>A (p.Asp345Asn) rs1446626293
NM_000235.4(LIPA):c.1035C>T (p.Asp345=) rs2133411821
NM_000235.4(LIPA):c.1039C>A (p.Leu347Ile) rs1455189146
NM_000235.4(LIPA):c.1043C>T (p.Ala348Val) rs757819577
NM_000235.4(LIPA):c.1052ACG[1] (p.Asp352del) rs767207643
NM_000235.4(LIPA):c.1059C>T (p.Val353=) rs1589548205
NM_000235.4(LIPA):c.1066T>C (p.Leu356=) rs1281069681
NM_000235.4(LIPA):c.1067T>G (p.Leu356Ter) rs2133411704
NM_000235.4(LIPA):c.1071G>A (p.Leu357=) rs1589548180
NM_000235.4(LIPA):c.1083C>T (p.Thr361=) rs753553813
NM_000235.4(LIPA):c.1105A>G (p.Ile369Val)
NM_000235.4(LIPA):c.1107T>G (p.Ile369Met)
NM_000235.4(LIPA):c.1108C>G (p.Pro370Ala)
NM_000235.4(LIPA):c.1109C>T (p.Pro370Leu)
NM_000235.4(LIPA):c.111+16T>C
NM_000235.4(LIPA):c.111+19T>A
NM_000235.4(LIPA):c.111+19T>C rs2133467761
NM_000235.4(LIPA):c.111+8T>C
NM_000235.4(LIPA):c.112-11T>C
NM_000235.4(LIPA):c.112-18C>T
NM_000235.4(LIPA):c.112-1G>C
NM_000235.4(LIPA):c.112-4A>G
NM_000235.4(LIPA):c.112-6C>A
NM_000235.4(LIPA):c.1122T>C (p.His374=)
NM_000235.4(LIPA):c.1125T>G (p.Leu375=)
NM_000235.4(LIPA):c.1133T>C (p.Ile378Thr) rs778013279
NM_000235.4(LIPA):c.1140C>T (p.Gly380=) rs1842601536
NM_000235.4(LIPA):c.1145A>T (p.Asp382Val)
NM_000235.4(LIPA):c.1158G>A (p.Arg386=)
NM_000235.4(LIPA):c.1158G>C (p.Arg386Ser) rs529668674
NM_000235.4(LIPA):c.1174A>T (p.Ile392Phe) rs1842600415
NM_000235.4(LIPA):c.1179T>C (p.Asn393=) rs1842600280
NM_000235.4(LIPA):c.1185G>A (p.Met395Ile) rs1842600141
NM_000235.4(LIPA):c.1193A>G (p.Tyr398Cys) rs2133411240
NM_000235.4(LIPA):c.1194T>C (p.Tyr398=)
NM_000235.4(LIPA):c.129C>G (p.Tyr43Ter) rs121965087
NM_000235.4(LIPA):c.130T>G (p.Trp44Gly)
NM_000235.4(LIPA):c.131G>A (p.Trp44Ter)
NM_000235.4(LIPA):c.132G>A (p.Trp44Ter)
NM_000235.4(LIPA):c.134G>C (p.Gly45Ala)
NM_000235.4(LIPA):c.138C>T (p.Phe46=)
NM_000235.4(LIPA):c.140C>A (p.Pro47His) rs775608408
NM_000235.4(LIPA):c.143G>T (p.Ser48Ile) rs1289804335
NM_000235.4(LIPA):c.144T>C (p.Ser48=)
NM_000235.4(LIPA):c.150A>G (p.Glu50=)
NM_000235.4(LIPA):c.158T>A (p.Val53Asp)
NM_000235.4(LIPA):c.159T>A (p.Val53=)
NM_000235.4(LIPA):c.16T>C (p.Leu6=)
NM_000235.4(LIPA):c.174A>G (p.Gly58=)
NM_000235.4(LIPA):c.176A>G (p.Tyr59Cys)
NM_000235.4(LIPA):c.177T>C (p.Tyr59=) rs2133464296
NM_000235.4(LIPA):c.183G>A (p.Leu61=)
NM_000235.4(LIPA):c.185G>T (p.Cys62Phe)
NM_000235.4(LIPA):c.186C>T (p.Cys62=) rs902722005
NM_000235.4(LIPA):c.192C>T (p.Asn64=)
NM_000235.4(LIPA):c.195A>G (p.Arg65=)
NM_000235.4(LIPA):c.203A>G (p.His68Arg)
NM_000235.4(LIPA):c.204T>G (p.His68Gln)
NM_000235.4(LIPA):c.21G>C (p.Gly7=)
NM_000235.4(LIPA):c.225C>T (p.Asp75=) rs2133464059
NM_000235.4(LIPA):c.229+10G>A rs2133463997
NM_000235.4(LIPA):c.229+10G>T rs2133463997
NM_000235.4(LIPA):c.229+11G>T
NM_000235.4(LIPA):c.229+12C>T
NM_000235.4(LIPA):c.229+13T>C
NM_000235.4(LIPA):c.229+20A>C
NM_000235.4(LIPA):c.229+7G>A
NM_000235.4(LIPA):c.229+9del rs1399049755
NM_000235.4(LIPA):c.230-15A>G rs199978109
NM_000235.4(LIPA):c.230-16A>C
NM_000235.4(LIPA):c.230-18A>C
NM_000235.4(LIPA):c.230-20A>G
NM_000235.4(LIPA):c.230-2del
NM_000235.4(LIPA):c.230-4dup
NM_000235.4(LIPA):c.237A>G (p.Lys79=) rs2133436869
NM_000235.4(LIPA):c.245T>C (p.Val82Ala) rs1298273048
NM_000235.4(LIPA):c.245del (p.Val82fs)
NM_000235.4(LIPA):c.246C>T (p.Val82=) rs2133436821
NM_000235.4(LIPA):c.249C>T (p.Phe83=) rs2133436811
NM_000235.4(LIPA):c.252G>T (p.Leu84=) rs2133436797
NM_000235.4(LIPA):c.253C>A (p.Gln85Lys) rs797045094
NM_000235.4(LIPA):c.254A>G (p.Gln85Arg) rs1589558414
NM_000235.4(LIPA):c.257A>G (p.His86Arg) rs1842798350
NM_000235.4(LIPA):c.264G>A (p.Leu88=) rs755847301
NM_000235.4(LIPA):c.264G>T (p.Leu88Phe)
NM_000235.4(LIPA):c.266T>C (p.Leu89Pro) rs2133436727
NM_000235.4(LIPA):c.267G>T (p.Leu89=)
NM_000235.4(LIPA):c.276T>C (p.Ser92=) rs2133436705
NM_000235.4(LIPA):c.282C>A (p.Asn94Lys)
NM_000235.4(LIPA):c.293_295del (p.Asn98_Leu99delinsIle)
NM_000235.4(LIPA):c.302A>G (p.Asn101Ser)
NM_000235.4(LIPA):c.309C>A (p.Ser103Arg) rs766364179
NM_000235.4(LIPA):c.30C>G (p.Val10=) rs1843045493
NM_000235.4(LIPA):c.33T>C (p.Cys11=)
NM_000235.4(LIPA):c.345G>A (p.Val115=)
NM_000235.4(LIPA):c.361A>G (p.Arg121Gly) rs912441212
NM_000235.4(LIPA):c.365G>T (p.Gly122Val)
NM_000235.4(LIPA):c.366A>G (p.Gly122=)
NM_000235.4(LIPA):c.369T>C (p.Asn123=)
NM_000235.4(LIPA):c.379C>A (p.Arg127=)
NM_000235.4(LIPA):c.37G>A (p.Val13Ile)
NM_000235.4(LIPA):c.37del (p.Val13fs) rs2133468040
NM_000235.4(LIPA):c.382A>T (p.Lys128Ter)
NM_000235.4(LIPA):c.392C>A (p.Thr131Lys)
NM_000235.4(LIPA):c.402T>G (p.Val134=) rs2133436164
NM_000235.4(LIPA):c.404C>T (p.Ser135Phe)
NM_000235.4(LIPA):c.406C>T (p.Gln136Ter) rs1842794747
NM_000235.4(LIPA):c.408G>A (p.Gln136=)
NM_000235.4(LIPA):c.416T>G (p.Phe139Cys) rs2133436092
NM_000235.4(LIPA):c.417C>T (p.Phe139=)
NM_000235.4(LIPA):c.423T>C (p.Ala141=) rs2133436048
NM_000235.4(LIPA):c.423T>G (p.Ala141=) rs2133436048
NM_000235.4(LIPA):c.428+12T>C
NM_000235.4(LIPA):c.428+2T>C
NM_000235.4(LIPA):c.428+7A>G rs2133436002
NM_000235.4(LIPA):c.428+8T>G rs554238064
NM_000235.4(LIPA):c.428+9G>C rs376015823
NM_000235.4(LIPA):c.429-15T>C
NM_000235.4(LIPA):c.429-16C>T
NM_000235.4(LIPA):c.429-18T>C
NM_000235.4(LIPA):c.429-19T>C
NM_000235.4(LIPA):c.429-8G>A rs112248349
NM_000235.4(LIPA):c.42C>G (p.Leu14=) rs1314994550
NM_000235.4(LIPA):c.432T>C (p.Tyr144=)
NM_000235.4(LIPA):c.444A>G (p.Ala148=)
NM_000235.4(LIPA):c.450T>C (p.Tyr150=)
NM_000235.4(LIPA):c.459A>G (p.Pro153=)
NM_000235.4(LIPA):c.468T>C (p.Ile156=) rs1589556945
NM_000235.4(LIPA):c.471C>T (p.Asn157=)
NM_000235.4(LIPA):c.473T>G (p.Phe158Cys)
NM_000235.4(LIPA):c.478C>T (p.Leu160=)
NM_000235.4(LIPA):c.481A>T (p.Asn161Tyr)
NM_000235.4(LIPA):c.482del (p.Asn161fs) rs762559980
NM_000235.4(LIPA):c.489T>C (p.Thr163=) rs2133433185
NM_000235.4(LIPA):c.48C>T (p.Thr16=)
NM_000235.4(LIPA):c.498A>G (p.Glu166=)
NM_000235.4(LIPA):c.49C>T (p.Leu17=)
NM_000235.4(LIPA):c.504G>T (p.Val168=) rs2133433160
NM_000235.4(LIPA):c.507T>C (p.Tyr169=)
NM_000235.4(LIPA):c.50T>C (p.Leu17Pro) rs886047472
NM_000235.4(LIPA):c.511G>T (p.Val171Leu)
NM_000235.4(LIPA):c.511del (p.Val171fs)
NM_000235.4(LIPA):c.521C>T (p.Ser174Phe) rs1842777072
NM_000235.4(LIPA):c.534T>C (p.Thr178=) rs746817834
NM_000235.4(LIPA):c.538+17G>A
NM_000235.4(LIPA):c.538+20C>T
NM_000235.4(LIPA):c.538+4T>A rs779872404
NM_000235.4(LIPA):c.538+5G>A
NM_000235.4(LIPA):c.538+7A>T rs2133432994
NM_000235.4(LIPA):c.538+8T>A
NM_000235.4(LIPA):c.539-11T>C
NM_000235.4(LIPA):c.539-12T>C
NM_000235.4(LIPA):c.539-16T>C
NM_000235.4(LIPA):c.539-20dup
NM_000235.4(LIPA):c.539-2A>G rs762143630
NM_000235.4(LIPA):c.539-5C>A rs2297472
NM_000235.4(LIPA):c.539-5C>G
NM_000235.4(LIPA):c.539-5C>T rs2297472
NM_000235.4(LIPA):c.539-6_539-5delinsCT rs1589555777
NM_000235.4(LIPA):c.539-7C>G
NM_000235.4(LIPA):c.539-7C>T
NM_000235.4(LIPA):c.539-8T>C
NM_000235.4(LIPA):c.547G>T (p.Ala183Ser)
NM_000235.4(LIPA):c.549A>T (p.Ala183=) rs746094174
NM_000235.4(LIPA):c.558G>A (p.Gln186=)
NM_000235.4(LIPA):c.566A>C (p.Glu189Ala) rs2133429645
NM_000235.4(LIPA):c.56C>T (p.Ser19Phe)
NM_000235.4(LIPA):c.585A>G (p.Lys195=)
NM_000235.4(LIPA):c.591T>G (p.Phe197Leu)
NM_000235.4(LIPA):c.594dup (p.Ala199fs) rs780495201
NM_000235.4(LIPA):c.600G>A (p.Leu200=) rs1172318248
NM_000235.4(LIPA):c.600G>C (p.Leu200=)
NM_000235.4(LIPA):c.600_603dup (p.Pro202fs) rs2133429569
NM_000235.4(LIPA):c.611C>T (p.Ala204Val)
NM_000235.4(LIPA):c.615C>A (p.Ser205=)
NM_000235.4(LIPA):c.615C>G (p.Ser205=) rs143930279
NM_000235.4(LIPA):c.615C>T (p.Ser205=) rs143930279
NM_000235.4(LIPA):c.616G>A (p.Val206Ile) rs756878837
NM_000235.4(LIPA):c.616dup (p.Val206fs)
NM_000235.4(LIPA):c.617_619dup (p.Val206dup) rs2133429462
NM_000235.4(LIPA):c.618C>G (p.Val206=) rs763651849
NM_000235.4(LIPA):c.618C>T (p.Val206=) rs763651849
NM_000235.4(LIPA):c.618_627del (p.Ala207fs)
NM_000235.4(LIPA):c.618dup (p.Ala207fs)
NM_000235.4(LIPA):c.619G>A (p.Ala207Thr)
NM_000235.4(LIPA):c.621C>A (p.Ala207=) rs373314455
NM_000235.4(LIPA):c.624C>G (p.Phe208Leu)
NM_000235.4(LIPA):c.636T>C (p.Pro212=)
NM_000235.4(LIPA):c.637A>T (p.Met213Leu)
NM_000235.4(LIPA):c.648A>C (p.Leu216Phe)
NM_000235.4(LIPA):c.653G>A (p.Arg218Gln)
NM_000235.4(LIPA):c.656T>G (p.Leu219Ter) rs1554865576
NM_000235.4(LIPA):c.656_657insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGTAAGGAGACAGTGCCTCTGGCAGGTATNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAATTAGGACGATT (p.Leu219_Pro220insAlaGlyArgGlyGlySerArgLeuTer)
NM_000235.4(LIPA):c.658C>T (p.Pro220Ser)
NM_000235.4(LIPA):c.660A>C (p.Pro220=) rs2133429315
NM_000235.4(LIPA):c.660A>G (p.Pro220=) rs2133429315
NM_000235.4(LIPA):c.666T>A (p.His222Gln)
NM_000235.4(LIPA):c.667C>T (p.Leu223Phe) rs1161698310
NM_000235.4(LIPA):c.669C>A (p.Leu223=) rs932100691
NM_000235.4(LIPA):c.675+11C>T
NM_000235.4(LIPA):c.675+12C>A
NM_000235.4(LIPA):c.675+12C>T
NM_000235.4(LIPA):c.675+13C>T
NM_000235.4(LIPA):c.675+19T>C
NM_000235.4(LIPA):c.675+7G>A
NM_000235.4(LIPA):c.675+7G>C rs2133429253
NM_000235.4(LIPA):c.676-14T>A rs886047471
NM_000235.4(LIPA):c.676-19G>A rs2133427422
NM_000235.4(LIPA):c.676-19G>C
NM_000235.4(LIPA):c.676-19G>T
NM_000235.4(LIPA):c.676-2A>T rs747508159
NM_000235.4(LIPA):c.676-4G>T
NM_000235.4(LIPA):c.676-9A>G rs2133427412
NM_000235.4(LIPA):c.683T>C (p.Phe228Ser) rs2228159
NM_000235.4(LIPA):c.684del (p.Phe228fs) rs770074196
NM_000235.4(LIPA):c.687A>G (p.Gly229=)
NM_000235.4(LIPA):c.690C>T (p.Asp230=) rs1409978506
NM_000235.4(LIPA):c.694G>T (p.Glu232Ter)
NM_000235.4(LIPA):c.697T>C (p.Phe233Leu)
NM_000235.4(LIPA):c.699T>C (p.Phe233=)
NM_000235.4(LIPA):c.69A>G (p.Gly23=) rs1843044295
NM_000235.4(LIPA):c.6A>G (p.Lys2=) rs138408240
NM_000235.4(LIPA):c.705C>G (p.Pro235=) rs1203005431
NM_000235.4(LIPA):c.705C>T (p.Pro235=)
NM_000235.4(LIPA):c.712G>A (p.Ala238Thr) rs1842732425
NM_000235.4(LIPA):c.714G>T (p.Ala238=)
NM_000235.4(LIPA):c.718T>C (p.Leu240=)
NM_000235.4(LIPA):c.723G>A (p.Lys241=)
NM_000235.4(LIPA):c.729G>T (p.Leu243=) rs1422320148
NM_000235.4(LIPA):c.732T>A (p.Gly244=)
NM_000235.4(LIPA):c.735C>T (p.Thr245=)
NM_000235.4(LIPA):c.739G>A (p.Val247Ile)
NM_000235.4(LIPA):c.744C>T (p.Cys248=) rs761924047
NM_000235.4(LIPA):c.749A>C (p.His250Pro) rs747792993
NM_000235.4(LIPA):c.749A>G (p.His250Arg)
NM_000235.4(LIPA):c.770G>A (p.Cys257Tyr)
NM_000235.4(LIPA):c.771T>C (p.Cys257=)
NM_000235.4(LIPA):c.771_774del (p.Leu256_Cys257insTer) rs2133427073
NM_000235.4(LIPA):c.780C>T (p.Leu260=)
NM_000235.4(LIPA):c.780_781del (p.Cys261fs)
NM_000235.4(LIPA):c.781T>C (p.Cys261Arg) rs1842730482
NM_000235.4(LIPA):c.78dup (p.Thr27fs)
NM_000235.4(LIPA):c.792G>A (p.Leu264=)
NM_000235.4(LIPA):c.792G>C (p.Leu264=) rs780855549
NM_000235.4(LIPA):c.792G>T (p.Leu264=)
NM_000235.4(LIPA):c.798A>T (p.Gly266=) rs1589554283
NM_000235.4(LIPA):c.804del (p.Asn268fs) rs1410809018
NM_000235.4(LIPA):c.813T>C (p.Asn271=) rs1842729565
NM_000235.4(LIPA):c.819T>C (p.Asn273=)
NM_000235.4(LIPA):c.822+13A>T
NM_000235.4(LIPA):c.822+14T>C
NM_000235.4(LIPA):c.822+14_822+15insGC
NM_000235.4(LIPA):c.822+16del
NM_000235.4(LIPA):c.822+1G>T
NM_000235.4(LIPA):c.822+37T>A
NM_000235.4(LIPA):c.822+37T>C
NM_000235.4(LIPA):c.822+37del rs752384602
NM_000235.4(LIPA):c.822+37dup rs752384602
NM_000235.4(LIPA):c.822+38A>T
NM_000235.4(LIPA):c.822+7A>G
NM_000235.4(LIPA):c.823-14T>C
NM_000235.4(LIPA):c.823-14del
NM_000235.4(LIPA):c.823-15G>T
NM_000235.4(LIPA):c.823-1G>A
NM_000235.4(LIPA):c.823-2A>G
NM_000235.4(LIPA):c.823-4G>T
NM_000235.4(LIPA):c.831G>T (p.Val277=)
NM_000235.4(LIPA):c.837A>G (p.Val279=) rs2133424899
NM_000235.4(LIPA):c.840T>C (p.Tyr280=)
NM_000235.4(LIPA):c.843A>T (p.Thr281=)
NM_000235.4(LIPA):c.84T>C (p.Ala28=) rs2133467876
NM_000235.4(LIPA):c.850T>C (p.Ser284Pro) rs2133424861
NM_000235.4(LIPA):c.853C>T (p.Pro285Ser) rs1564752079
NM_000235.4(LIPA):c.854del (p.Pro285fs) rs2133424815
NM_000235.4(LIPA):c.877A>C (p.Met293Leu) rs764343762
NM_000235.4(LIPA):c.881T>C (p.Leu294Ser) rs756310979
NM_000235.4(LIPA):c.884A>C (p.His295Pro)
NM_000235.4(LIPA):c.885C>T (p.His295=) rs886044197
NM_000235.4(LIPA):c.890dup (p.Ser297fs)
NM_000235.4(LIPA):c.892C>T (p.Gln298Ter) rs1554865206
NM_000235.4(LIPA):c.892del (p.Gln298fs)
NM_000235.4(LIPA):c.894+10C>T
NM_000235.4(LIPA):c.894+11C>T
NM_000235.4(LIPA):c.894+17T>C
NM_000235.4(LIPA):c.894+18G>A
NM_000235.4(LIPA):c.894+1G>A rs1564751995
NM_000235.4(LIPA):c.894+6C>T
NM_000235.4(LIPA):c.894+8T>C
NM_000235.4(LIPA):c.894G>C (p.Gln298His) rs116928232
NM_000235.4(LIPA):c.895-13A>G
NM_000235.4(LIPA):c.895-14T>C
NM_000235.4(LIPA):c.895-16A>G
NM_000235.4(LIPA):c.895-20C>G
NM_000235.4(LIPA):c.895-20C>T
NM_000235.4(LIPA):c.895-3T>A
NM_000235.4(LIPA):c.895-8_895-6del rs2133413717
NM_000235.4(LIPA):c.897T>C (p.Ala299=) rs2133413699
NM_000235.4(LIPA):c.898_901del (p.Val300fs)
NM_000235.4(LIPA):c.8T>G (p.Met3Arg) rs1589573225
NM_000235.4(LIPA):c.904T>G (p.Phe302Val) rs1187189503
NM_000235.4(LIPA):c.906C>T (p.Phe302=) rs1842621631
NM_000235.4(LIPA):c.921C>G (p.Ala307=)
NM_000235.4(LIPA):c.922T>G (p.Phe308Val) rs751625944
NM_000235.4(LIPA):c.929G>A (p.Trp310Ter) rs2133413584
NM_000235.4(LIPA):c.939T>C (p.Ser313=) rs1842621064
NM_000235.4(LIPA):c.93T>C (p.Pro31=)
NM_000235.4(LIPA):c.940G>A (p.Ala314Thr)
NM_000235.4(LIPA):c.944A>G (p.Lys315Arg)
NM_000235.4(LIPA):c.948T>C (p.Asn316=) rs2133413524
NM_000235.4(LIPA):c.951T>A (p.Tyr317Ter) rs760413481
NM_000235.4(LIPA):c.956A>C (p.His319Pro) rs1842620342
NM_000235.4(LIPA):c.956A>G (p.His319Arg) rs1842620342
NM_000235.4(LIPA):c.960C>T (p.Tyr320=) rs1554864404
NM_000235.4(LIPA):c.964C>T (p.Gln322Ter)
NM_000235.4(LIPA):c.966+10T>G rs2133413429
NM_000235.4(LIPA):c.966+12A>T
NM_000235.4(LIPA):c.966+14T>C
NM_000235.4(LIPA):c.966+15C>A
NM_000235.4(LIPA):c.966+15C>T
NM_000235.4(LIPA):c.967-10T>G
NM_000235.4(LIPA):c.967-13C>T
NM_000235.4(LIPA):c.967-14C>T rs2133412154
NM_000235.4(LIPA):c.967-17G>T
NM_000235.4(LIPA):c.980C>T (p.Thr327Ile)
NM_000235.4(LIPA):c.980del (p.Thr327fs) rs2133412083
NM_000235.4(LIPA):c.981A>G (p.Thr327=)
NM_000235.4(LIPA):c.984C>A (p.Tyr328Ter)
NM_000235.4(LIPA):c.999G>A (p.Met333Ile)
NM_000235.4(LIPA):c.99A>G (p.Thr33=)
NM_000431.4(MVK):c.*58dup rs397714540
NM_000431.4(MVK):c.1008T>C (p.Gly336=)
NM_000431.4(MVK):c.1014C>G (p.Gly338=)
NM_000431.4(MVK):c.1019G>A (p.Gly340Asp)
NM_000431.4(MVK):c.1019G>C (p.Gly340Ala)
NM_000431.4(MVK):c.1027C>T (p.Leu343Phe)
NM_000431.4(MVK):c.1029C>T (p.Leu343=)
NM_000431.4(MVK):c.1039+12G>A
NM_000431.4(MVK):c.1039+7dup
NM_000431.4(MVK):c.1039+8G>A
NM_000431.4(MVK):c.1039+8G>C rs765989100
NM_000431.4(MVK):c.1040-15C>T
NM_000431.4(MVK):c.1040-19C>T
NM_000431.4(MVK):c.1040-5C>T rs150276185
NM_000431.4(MVK):c.1040-6_1040-5inv
NM_000431.4(MVK):c.1042C>T (p.Leu348=)
NM_000431.4(MVK):c.1045G>C (p.Glu349Gln)
NM_000431.4(MVK):c.1046A>C (p.Glu349Ala)
NM_000431.4(MVK):c.1049A>C (p.Gln350Pro)
NM_000431.4(MVK):c.1055A>C (p.Glu352Ala) rs879219256
NM_000431.4(MVK):c.1059G>A (p.Val353=) rs2136257119
NM_000431.4(MVK):c.1062G>A (p.Glu354=)
NM_000431.4(MVK):c.1063del (p.Ala355fs)
NM_000431.4(MVK):c.1066A>G (p.Thr356Ala)
NM_000431.4(MVK):c.1067C>A (p.Thr356Lys) rs104895342
NM_000431.4(MVK):c.1068G>A (p.Thr356=)
NM_000431.4(MVK):c.1071G>A (p.Lys357=)
NM_000431.4(MVK):c.1072C>T (p.Gln358Ter)
NM_000431.4(MVK):c.1073A>C (p.Gln358Pro) rs1885916592
NM_000431.4(MVK):c.1075G>C (p.Ala359Pro)
NM_000431.4(MVK):c.1076C>A (p.Ala359Asp)
NM_000431.4(MVK):c.1078C>G (p.Leu360Val) rs2136257244
NM_000431.4(MVK):c.1078C>T (p.Leu360=)
NM_000431.4(MVK):c.1088G>A (p.Cys363Tyr)
NM_000431.4(MVK):c.1090_1091del (p.Gly364fs)
NM_000431.4(MVK):c.1092C>T (p.Gly364=)
NM_000431.4(MVK):c.1096G>C (p.Asp366His) rs1566153793
NM_000431.4(MVK):c.1096G>T (p.Asp366Tyr)
NM_000431.4(MVK):c.1098C>T (p.Asp366=)
NM_000431.4(MVK):c.1101C>T (p.Cys367=)
NM_000431.4(MVK):c.1102T>C (p.Leu368=)
NM_000431.4(MVK):c.1110C>T (p.Thr370=) rs2136257338
NM_000431.4(MVK):c.1113C>T (p.Ser371=)
NM_000431.4(MVK):c.1122C>T (p.Ala374=)
NM_000431.4(MVK):c.1124C>T (p.Pro375Leu)
NM_000431.4(MVK):c.1135A>G (p.Ile379Val)
NM_000431.4(MVK):c.1137C>T (p.Ile379=)
NM_000431.4(MVK):c.1140C>T (p.His380=)
NM_000431.4(MVK):c.1142C>T (p.Ser381Leu)
NM_000431.4(MVK):c.1143A>C (p.Ser381=)
NM_000431.4(MVK):c.1143A>T (p.Ser381=)
NM_000431.4(MVK):c.1149C>T (p.Thr383=)
NM_000431.4(MVK):c.1161C>T (p.Ser387=)
NM_000431.4(MVK):c.1167C>T (p.Val389=)
NM_000431.4(MVK):c.1175C>T (p.Ala392Val) rs1189179026
NM_000431.4(MVK):c.1176C>A (p.Ala392=)
NM_000431.4(MVK):c.1189T>C (p.Ter397Arg) rs1555279757
NM_000431.4(MVK):c.1190G>A (p.Ter397=)
NM_000431.4(MVK):c.119G>A (p.Arg40Gln) rs373095009
NM_000431.4(MVK):c.119G>T (p.Arg40Leu) rs373095009
NM_000431.4(MVK):c.125A>C (p.Gln42Pro)
NM_000431.4(MVK):c.126A>G (p.Gln42=)
NM_000431.4(MVK):c.129C>A (p.Pro43=)
NM_000431.4(MVK):c.129_130del (p.His44fs) rs104895368
NM_000431.4(MVK):c.134_135delinsAA (p.Ser45Lys)
NM_000431.4(MVK):c.135C>T (p.Ser45=)
NM_000431.4(MVK):c.144A>G (p.Lys48=) rs2136218745
NM_000431.4(MVK):c.147G>A (p.Val49=)
NM_000431.4(MVK):c.153C>T (p.Leu51=)
NM_000431.4(MVK):c.15C>T (p.Val5=)
NM_000431.4(MVK):c.162C>T (p.Pro54=) rs2136218809
NM_000431.4(MVK):c.168T>C (p.Ile56=)
NM_000431.4(MVK):c.172A>G (p.Ile58Val)
NM_000431.4(MVK):c.179G>A (p.Arg60Gln)
NM_000431.4(MVK):c.185G>A (p.Trp62Ter) rs104895306
NM_000431.4(MVK):c.187G>A (p.Asp63Asn) rs1884939365
NM_000431.4(MVK):c.192G>A (p.Val64=)
NM_000431.4(MVK):c.194C>G (p.Ala65Gly)
NM_000431.4(MVK):c.194C>T (p.Ala65Val)
NM_000431.4(MVK):c.1A>C (p.Met1Leu)
NM_000431.4(MVK):c.203A>G (p.Gln68Arg)
NM_000431.4(MVK):c.207A>G (p.Ser69=)
NM_000431.4(MVK):c.207_208del (p.Leu70fs)
NM_000431.4(MVK):c.226+17G>C
NM_000431.4(MVK):c.226+7G>A rs781670680
NM_000431.4(MVK):c.226+7G>T
NM_000431.4(MVK):c.226+9A>G
NM_000431.4(MVK):c.227-10T>G
NM_000431.4(MVK):c.227-15T>C
NM_000431.4(MVK):c.227-17G>A
NM_000431.4(MVK):c.227-20C>A
NM_000431.4(MVK):c.227-7G>A
NM_000431.4(MVK):c.230A>G (p.Gln77Arg)
NM_000431.4(MVK):c.240C>T (p.Val80=)
NM_000431.4(MVK):c.244A>G (p.Thr82Ala) rs2136224465
NM_000431.4(MVK):c.24G>A (p.Val8=)
NM_000431.4(MVK):c.252C>A (p.Thr84=)
NM_000431.4(MVK):c.254C>T (p.Ser85Leu) rs1885131607
NM_000431.4(MVK):c.264G>C (p.Val88=)
NM_000431.4(MVK):c.274A>C (p.Lys92Gln)
NM_000431.4(MVK):c.277_283del (p.Glu93fs) rs104895369
NM_000431.4(MVK):c.279G>A (p.Glu93=) rs2136224503
NM_000431.4(MVK):c.27T>C (p.Ser9=)
NM_000431.4(MVK):c.280G>A (p.Val94Ile)
NM_000431.4(MVK):c.288C>T (p.Gly96=) rs2136224524
NM_000431.4(MVK):c.289T>C (p.Leu97=)
NM_000431.4(MVK):c.294T>C (p.Pro98=) rs1566143735
NM_000431.4(MVK):c.300C>T (p.Asp100=)
NM_000431.4(MVK):c.307G>A (p.Val103Ile)
NM_000431.4(MVK):c.312C>T (p.Thr104=)
NM_000431.4(MVK):c.316C>T (p.Arg106Cys)
NM_000431.4(MVK):c.318C>G (p.Arg106=)
NM_000431.4(MVK):c.319C>T (p.Leu107=)
NM_000431.4(MVK):c.321G>C (p.Leu107=)
NM_000431.4(MVK):c.330G>A (p.Leu110=)
NM_000431.4(MVK):c.336T>C (p.Phe112=)
NM_000431.4(MVK):c.33G>A (p.Pro11=) rs779289416
NM_000431.4(MVK):c.341A>G (p.Tyr114Cys)
NM_000431.4(MVK):c.342C>T (p.Tyr114=)
NM_000431.4(MVK):c.345A>G (p.Leu115=) rs2136224671
NM_000431.4(MVK):c.345dup (p.Tyr116fs)
NM_000431.4(MVK):c.349C>G (p.Leu117Val) rs374204972
NM_000431.4(MVK):c.350T>C (p.Leu117Pro)
NM_000431.4(MVK):c.366G>A (p.Lys122=)
NM_000431.4(MVK):c.368A>T (p.Gln123Leu) rs978964462
NM_000431.4(MVK):c.36G>T (p.Gly12=) rs1884860868
NM_000431.4(MVK):c.371+19G>C
NM_000431.4(MVK):c.371+1GT[4] rs1337419856
NM_000431.4(MVK):c.371+20A>T
NM_000431.4(MVK):c.371+20_371+22del
NM_000431.4(MVK):c.371+4T>C rs1885141606
NM_000431.4(MVK):c.371+8C>A rs67886029
NM_000431.4(MVK):c.372-12G>C
NM_000431.4(MVK):c.372-14C>T
NM_000431.4(MVK):c.372-15C>T
NM_000431.4(MVK):c.372-16C>A
NM_000431.4(MVK):c.372-16C>G
NM_000431.4(MVK):c.372-18C>T
NM_000431.4(MVK):c.372G>A (p.Arg124=)
NM_000431.4(MVK):c.378G>A (p.Leu126=)
NM_000431.4(MVK):c.37A>C (p.Lys13Gln) rs104895307
NM_000431.4(MVK):c.381_385del (p.Ser128fs)
NM_000431.4(MVK):c.384C>T (p.Ser128=)
NM_000431.4(MVK):c.386_422del (p.Leu129fs)
NM_000431.4(MVK):c.387G>A (p.Leu129=)
NM_000431.4(MVK):c.393C>T (p.Ile131=) rs762282184
NM_000431.4(MVK):c.395del (p.Val132fs)
NM_000431.4(MVK):c.398T>G (p.Val133Gly)
NM_000431.4(MVK):c.3G>A (p.Met1Ile)
NM_000431.4(MVK):c.415C>G (p.Pro139Ala)
NM_000431.4(MVK):c.417C>A (p.Pro139=)
NM_000431.4(MVK):c.417C>G (p.Pro139=) rs754441368
NM_000431.4(MVK):c.417C>T (p.Pro139=)
NM_000431.4(MVK):c.417del (p.Ala141fs)
NM_000431.4(MVK):c.417dup (p.Gly140fs) rs104895373
NM_000431.4(MVK):c.419G>T (p.Gly140Val)
NM_000431.4(MVK):c.420G>A (p.Gly140=) rs2136227153
NM_000431.4(MVK):c.423G>C (p.Ala141=)
NM_000431.4(MVK):c.426C>A (p.Gly142=)
NM_000431.4(MVK):c.42C>T (p.Val14=)
NM_000431.4(MVK):c.435C>T (p.Ser145=)
NM_000431.4(MVK):c.439G>A (p.Ala147Thr) rs104895363
NM_000431.4(MVK):c.441C>A (p.Ala147=) rs138342076
NM_000431.4(MVK):c.450G>A (p.Ser150=) rs201123232
NM_000431.4(MVK):c.450G>C (p.Ser150=) rs201123232
NM_000431.4(MVK):c.450G>T (p.Ser150=)
NM_000431.4(MVK):c.451G>T (p.Val151Leu) rs1885215026
NM_000431.4(MVK):c.453G>T (p.Val151=)
NM_000431.4(MVK):c.457C>T (p.Leu153=)
NM_000431.4(MVK):c.458T>C (p.Leu153Pro)
NM_000431.4(MVK):c.459G>A (p.Leu153=)
NM_000431.4(MVK):c.46_49del (p.Leu16fs)
NM_000431.4(MVK):c.477T>A (p.Thr159=)
NM_000431.4(MVK):c.479T>A (p.Val160Glu)
NM_000431.4(MVK):c.481_482del (p.Cys161fs)
NM_000431.4(MVK):c.486G>A (p.Glu162=)
NM_000431.4(MVK):c.491T>A (p.Ile164Asn)
NM_000431.4(MVK):c.494C>T (p.Pro165Leu) rs121917790
NM_000431.4(MVK):c.500C>A (p.Pro167Gln)
NM_000431.4(MVK):c.501G>A (p.Pro167=)
NM_000431.4(MVK):c.504G>A (p.Leu168=) rs767075641
NM_000431.4(MVK):c.507G>A (p.Lys169=)
NM_000431.4(MVK):c.513G>A (p.Gly171=)
NM_000431.4(MVK):c.518G>A (p.Cys173Tyr) rs1267793765
NM_000431.4(MVK):c.520G>A (p.Val174Ile) rs369227329
NM_000431.4(MVK):c.520G>T (p.Val174Phe)
NM_000431.4(MVK):c.527+11T>A
NM_000431.4(MVK):c.527+17C>G
NM_000431.4(MVK):c.527+17C>T
NM_000431.4(MVK):c.527+20G>A
NM_000431.4(MVK):c.527+7A>G
NM_000431.4(MVK):c.527+9G>A rs1593017698
NM_000431.4(MVK):c.528-10G>T
NM_000431.4(MVK):c.528-10_528-7del
NM_000431.4(MVK):c.528-14A>G
NM_000431.4(MVK):c.528-15C>T rs895927591
NM_000431.4(MVK):c.528-17A>G rs1885416136
NM_000431.4(MVK):c.528-18G>A rs1885416038
NM_000431.4(MVK):c.528-3C>T
NM_000431.4(MVK):c.528-7T>C
NM_000431.4(MVK):c.534C>A (p.Thr178=)
NM_000431.4(MVK):c.534C>G (p.Thr178=) rs749860412
NM_000431.4(MVK):c.545T>A (p.Leu182Ter) rs1566147222
NM_000431.4(MVK):c.549G>A (p.Glu183=)
NM_000431.4(MVK):c.558C>T (p.Asn186=)
NM_000431.4(MVK):c.560_561del (p.Lys187fs)
NM_000431.4(MVK):c.562T>G (p.Trp188Gly)
NM_000431.4(MVK):c.573A>G (p.Gln191=)
NM_000431.4(MVK):c.577G>A (p.Glu193Lys)
NM_000431.4(MVK):c.581G>T (p.Arg194Ile)
NM_000431.4(MVK):c.592G>A (p.Gly198Arg) rs202172198
NM_000431.4(MVK):c.595A>T (p.Asn199Tyr) rs1566147301
NM_000431.4(MVK):c.600C>T (p.Pro200=)
NM_000431.4(MVK):c.605dup (p.Val203fs) rs2136236945
NM_000431.4(MVK):c.60T>A (p.His20Gln) rs104895335
NM_000431.4(MVK):c.621C>A (p.Val207=)
NM_000431.4(MVK):c.621C>T (p.Val207=)
NM_000431.4(MVK):c.621_630del (p.Ser208fs)
NM_000431.4(MVK):c.626C>T (p.Thr209Ile)
NM_000431.4(MVK):c.629G>A (p.Trp210Ter)
NM_000431.4(MVK):c.631+14C>T
NM_000431.4(MVK):c.631+16G>A
NM_000431.4(MVK):c.631+3A>T
NM_000431.4(MVK):c.632-11T>C
NM_000431.4(MVK):c.632-12T>G rs1885451097
NM_000431.4(MVK):c.632-13T>C
NM_000431.4(MVK):c.632-14G>A
NM_000431.4(MVK):c.632-18A>T
NM_000431.4(MVK):c.632-19_632-18inv
NM_000431.4(MVK):c.632-2A>C
NM_000431.4(MVK):c.632-3T>A rs2136238080
NM_000431.4(MVK):c.632-3del rs1885451714
NM_000431.4(MVK):c.632-6C>T
NM_000431.4(MVK):c.632-8C>T
NM_000431.4(MVK):c.632-9T>C
NM_000431.4(MVK):c.63C>T (p.Ala21=)
NM_000431.4(MVK):c.641T>A (p.Leu214His)
NM_000431.4(MVK):c.643C>T (p.Arg215Ter) rs758026399
NM_000431.4(MVK):c.64G>C (p.Val22Leu) rs1217259118
NM_000431.4(MVK):c.651T>C (p.His217=)
NM_000431.4(MVK):c.653A>C (p.Gln218Pro) rs2136238122
NM_000431.4(MVK):c.659A>C (p.Lys220Thr)
NM_000431.4(MVK):c.661_668dup (p.Leu224fs)
NM_000431.4(MVK):c.664del (p.Ser222fs)
NM_000431.4(MVK):c.666A>G (p.Ser222=)
NM_000431.4(MVK):c.669C>T (p.Ser223=)
NM_000431.4(MVK):c.670T>C (p.Leu224=)
NM_000431.4(MVK):c.671T>G (p.Leu224Ter)
NM_000431.4(MVK):c.672A>G (p.Leu224=)
NM_000431.4(MVK):c.677+11G>A
NM_000431.4(MVK):c.677+12G>A rs539146613
NM_000431.4(MVK):c.677+12G>T rs539146613
NM_000431.4(MVK):c.677+12del rs774948892
NM_000431.4(MVK):c.677+13T>G
NM_000431.4(MVK):c.677+15G>A
NM_000431.4(MVK):c.677+19A>C
NM_000431.4(MVK):c.677+1G>A
NM_000431.4(MVK):c.677+1G>T
NM_000431.4(MVK):c.677+5C>A
NM_000431.4(MVK):c.677+7del rs2136238231
NM_000431.4(MVK):c.677+8G>T
NM_000431.4(MVK):c.677+9G>A
NM_000431.4(MVK):c.677+9G>T
NM_000431.4(MVK):c.677G>A (p.Arg226Lys)
NM_000431.4(MVK):c.678-15_678-13del
NM_000431.4(MVK):c.678-16C>G rs368844823
NM_000431.4(MVK):c.678-16C>T
NM_000431.4(MVK):c.678-3C>A rs1885632836
NM_000431.4(MVK):c.678-4G>A
NM_000431.4(MVK):c.678-8C>A rs1451676951
NM_000431.4(MVK):c.678G>A (p.Arg226=)
NM_000431.4(MVK):c.67G>A (p.Val23Ile) rs2136216776
NM_000431.4(MVK):c.680C>G (p.Ser227Trp)
NM_000431.4(MVK):c.686C>T (p.Ala229Val)
NM_000431.4(MVK):c.690C>G (p.Leu230=)
NM_000431.4(MVK):c.699G>A (p.Leu233=)
NM_000431.4(MVK):c.6G>C (p.Leu2Phe)
NM_000431.4(MVK):c.705C>T (p.Thr235=)
NM_000431.4(MVK):c.709A>G (p.Thr237Ala)
NM_000431.4(MVK):c.712A>T (p.Lys238Ter)
NM_000431.4(MVK):c.717C>T (p.Val239=)
NM_000431.4(MVK):c.719C>G (p.Pro240Arg) rs1458254066
NM_000431.4(MVK):c.71A>C (p.His24Pro)
NM_000431.4(MVK):c.723C>T (p.Arg241=)
NM_000431.4(MVK):c.724A>G (p.Asn242Asp) rs1885636019
NM_000431.4(MVK):c.738T>A (p.Leu246=)
NM_000431.4(MVK):c.747C>A (p.Gly249=) rs144788669
NM_000431.4(MVK):c.748G>T (p.Val250Phe)
NM_000431.4(MVK):c.752G>A (p.Arg251Lys) rs1885638229
NM_000431.4(MVK):c.762G>A (p.Leu254=)
NM_000431.4(MVK):c.768+14C>G
NM_000431.4(MVK):c.768+18C>T
NM_000431.4(MVK):c.768+1G>T
NM_000431.4(MVK):c.769-10T>C
NM_000431.4(MVK):c.769-14_769-12del
NM_000431.4(MVK):c.769-18C>T
NM_000431.4(MVK):c.769-5T>A
NM_000431.4(MVK):c.769-5T>C
NM_000431.4(MVK):c.769-6dup
NM_000431.4(MVK):c.769-7T>C
NM_000431.4(MVK):c.775G>A (p.Glu259Lys) rs1885663402
NM_000431.4(MVK):c.778A>T (p.Ile260Phe)
NM_000431.4(MVK):c.78+10C>A
NM_000431.4(MVK):c.78+10C>T
NM_000431.4(MVK):c.78+11G>T
NM_000431.4(MVK):c.78+18C>T
NM_000431.4(MVK):c.78+19C>G
NM_000431.4(MVK):c.78+1G>A rs1884864809
NM_000431.4(MVK):c.78+20T>C
NM_000431.4(MVK):c.78+20T>G
NM_000431.4(MVK):c.780C>A (p.Ile260=) rs34975996
NM_000431.4(MVK):c.780C>T (p.Ile260=) rs34975996
NM_000431.4(MVK):c.781G>A (p.Val261Met)
NM_000431.4(MVK):c.783G>A (p.Val261=)
NM_000431.4(MVK):c.784G>T (p.Ala262Ser) rs1386402188
NM_000431.4(MVK):c.789C>A (p.Pro263=) rs146181903
NM_000431.4(MVK):c.789C>T (p.Pro263=)
NM_000431.4(MVK):c.79-11T>G
NM_000431.4(MVK):c.79-16G>A
NM_000431.4(MVK):c.79-2A>G rs1884932883
NM_000431.4(MVK):c.79-4A>G
NM_000431.4(MVK):c.790C>G (p.Leu264Val)
NM_000431.4(MVK):c.790dup (p.Leu264fs)
NM_000431.4(MVK):c.795G>A (p.Leu265=)
NM_000431.4(MVK):c.799T>C (p.Ser267Pro) rs1885666876
NM_000431.4(MVK):c.805G>A (p.Asp269Asn)
NM_000431.4(MVK):c.807T>C (p.Asp269=)
NM_000431.4(MVK):c.809C>A (p.Ala270Asp) rs866006959
NM_000431.4(MVK):c.80T>G (p.Val27Gly) rs770136482
NM_000431.4(MVK):c.815C>T (p.Ser272Phe) rs104895318
NM_000431.4(MVK):c.824G>A (p.Cys275Tyr)
NM_000431.4(MVK):c.832G>A (p.Val278Met) rs574045811
NM_000431.4(MVK):c.832G>C (p.Val278Leu)
NM_000431.4(MVK):c.835C>T (p.Leu279=)
NM_000431.4(MVK):c.846G>A (p.Met282Ile)
NM_000431.4(MVK):c.84A>G (p.Ala28=)
NM_000431.4(MVK):c.861C>A (p.Ala287=) rs774340599
NM_000431.4(MVK):c.865G>C (p.Glu289Gln) rs1406107674
NM_000431.4(MVK):c.86T>C (p.Leu29Pro)
NM_000431.4(MVK):c.870G>A (p.Gln290=)
NM_000431.4(MVK):c.885+15G>A
NM_000431.4(MVK):c.885+8C>T
NM_000431.4(MVK):c.886-11T>A
NM_000431.4(MVK):c.886-12C>T
NM_000431.4(MVK):c.886-19A>G
NM_000431.4(MVK):c.886-19A>T rs745941736
NM_000431.4(MVK):c.886-22_886-20del
NM_000431.4(MVK):c.886-7C>T
NM_000431.4(MVK):c.888G>A (p.Glu296=) rs2136253284
NM_000431.4(MVK):c.893T>C (p.Ile298Thr)
NM_000431.4(MVK):c.898A>G (p.Met300Val)
NM_000431.4(MVK):c.901A>C (p.Asn301His)
NM_000431.4(MVK):c.904C>T (p.Gln302Ter) rs886048933
NM_000431.4(MVK):c.90T>C (p.Ala30=)
NM_000431.4(MVK):c.924C>A (p.Leu308=)
NM_000431.4(MVK):c.936C>T (p.His312=) rs1212639017
NM_000431.4(MVK):c.938C>A (p.Ala313Asp)
NM_000431.4(MVK):c.938C>T (p.Ala313Val)
NM_000431.4(MVK):c.943_944del (p.Leu315fs) rs776735249
NM_000431.4(MVK):c.951G>A (p.Gln317=)
NM_000431.4(MVK):c.952C>A (p.Leu318Ile)
NM_000431.4(MVK):c.96C>T (p.Ser32=)
NM_000431.4(MVK):c.973C>T (p.Arg325Cys)
NM_000431.4(MVK):c.976G>A (p.Gly326Arg) rs104895308
NM_000431.4(MVK):c.976G>T (p.Gly326Ter)
NM_000431.4(MVK):c.986G>A (p.Ser329Asn) rs104895350
NM_000431.4(MVK):c.987C>G (p.Ser329Arg) rs104895326
NM_000431.4(MVK):c.998G>A (p.Gly333Asp)
NM_000431.4(MVK):c.9A>G (p.Ser3=)
NM_000784.4(CYP27A1):c.1005del (p.Gly336fs) rs1575206357
NM_000784.4(CYP27A1):c.1010T>C (p.Val337Ala) rs759622995
NM_000784.4(CYP27A1):c.1016C>A (p.Thr339Lys)
NM_000784.4(CYP27A1):c.1017+10G>T
NM_000784.4(CYP27A1):c.1017+11G>C rs766039123
NM_000784.4(CYP27A1):c.1017+11G>T rs766039123
NM_000784.4(CYP27A1):c.1017+14G>C rs1196582375
NM_000784.4(CYP27A1):c.1017+14del rs372792485
NM_000784.4(CYP27A1):c.1017+15_1017+18del rs1679085939
NM_000784.4(CYP27A1):c.1017+16G>T
NM_000784.4(CYP27A1):c.1017+17G>A rs1431354879
NM_000784.4(CYP27A1):c.1017+17G>T
NM_000784.4(CYP27A1):c.1017+18G>C
NM_000784.4(CYP27A1):c.1017+18G>T
NM_000784.4(CYP27A1):c.1017+1del rs1559392904
NM_000784.4(CYP27A1):c.1017+5G>C rs370304209
NM_000784.4(CYP27A1):c.1018-11C>G
NM_000784.4(CYP27A1):c.1018-13C>T
NM_000784.4(CYP27A1):c.1018-16C>T
NM_000784.4(CYP27A1):c.1018-19C>A
NM_000784.4(CYP27A1):c.1018-19C>T
NM_000784.4(CYP27A1):c.1018-1G>C rs1575206658
NM_000784.4(CYP27A1):c.1018-4C>G
NM_000784.4(CYP27A1):c.1018-4C>T
NM_000784.4(CYP27A1):c.1018-8T>C rs1943753198
NM_000784.4(CYP27A1):c.1026C>T (p.Asn342=)
NM_000784.4(CYP27A1):c.1028C>G (p.Thr343Arg) rs372194079
NM_000784.4(CYP27A1):c.1029G>T (p.Thr343=) rs771343931
NM_000784.4(CYP27A1):c.102C>T (p.Ala34=) rs773208703
NM_000784.4(CYP27A1):c.1030C>T (p.Leu344=)
NM_000784.4(CYP27A1):c.1035A>G (p.Thr345=)
NM_000784.4(CYP27A1):c.1037G>A (p.Trp346Ter)
NM_000784.4(CYP27A1):c.1041C>T (p.Ala347=)
NM_000784.4(CYP27A1):c.1044G>A (p.Leu348=) rs776794344
NM_000784.4(CYP27A1):c.1048C>T (p.His350Tyr)
NM_000784.4(CYP27A1):c.104T>C (p.Leu35Pro) rs2106479125
NM_000784.4(CYP27A1):c.1052T>G (p.Leu351Arg) rs1470602732
NM_000784.4(CYP27A1):c.1053C>G (p.Leu351=)
NM_000784.4(CYP27A1):c.105C>T (p.Leu35=)
NM_000784.4(CYP27A1):c.1060G>A (p.Asp354Asn) rs2105980881
NM_000784.4(CYP27A1):c.1064del (p.Pro355fs) rs1575206688
NM_000784.4(CYP27A1):c.1065T>C (p.Pro355=)
NM_000784.4(CYP27A1):c.1068_1072dup (p.Gln358fs)
NM_000784.4(CYP27A1):c.1074G>A (p.Gln358=) rs2105980889
NM_000784.4(CYP27A1):c.1075G>A (p.Glu359Lys) rs760471205
NM_000784.4(CYP27A1):c.1076A>C (p.Glu359Ala)
NM_000784.4(CYP27A1):c.1078G>C (p.Ala360Pro) rs1463950337
NM_000784.4(CYP27A1):c.1080C>T (p.Ala360=)
NM_000784.4(CYP27A1):c.1081T>C (p.Leu361=)
NM_000784.4(CYP27A1):c.1085A>G (p.His362Arg) rs886043798
NM_000784.4(CYP27A1):c.1086C>A (p.His362Gln) rs139426361
NM_000784.4(CYP27A1):c.1087G>A (p.Glu363Lys)
NM_000784.4(CYP27A1):c.1087G>T (p.Glu363Ter) rs72551321
NM_000784.4(CYP27A1):c.108C>G (p.Pro36=)
NM_000784.4(CYP27A1):c.108C>T (p.Pro36=) rs760334139
NM_000784.4(CYP27A1):c.1095G>A (p.Val365=) rs1045010358
NM_000784.4(CYP27A1):c.1099_1102dup (p.Val368fs)
NM_000784.4(CYP27A1):c.1107G>A (p.Val369=) rs2105980920
NM_000784.4(CYP27A1):c.1109C>T (p.Pro370Leu) rs2105980922
NM_000784.4(CYP27A1):c.110C>G (p.Ser37Trp) rs1559384559
NM_000784.4(CYP27A1):c.1112C>T (p.Ala371Val)
NM_000784.4(CYP27A1):c.1113C>G (p.Ala371=)
NM_000784.4(CYP27A1):c.1114G>T (p.Gly372Trp) rs369969903
NM_000784.4(CYP27A1):c.1116G>A (p.Gly372=)
NM_000784.4(CYP27A1):c.1116G>C (p.Gly372=) rs1943755876
NM_000784.4(CYP27A1):c.1116G>T (p.Gly372=) rs1943755876
NM_000784.4(CYP27A1):c.1116del (p.Gln373fs)
NM_000784.4(CYP27A1):c.1117C>A (p.Gln373Lys) rs536176295
NM_000784.4(CYP27A1):c.111G>C (p.Ser37=)
NM_000784.4(CYP27A1):c.1121T>A (p.Val374Glu) rs1943755995
NM_000784.4(CYP27A1):c.1126del (p.Gln376fs)
NM_000784.4(CYP27A1):c.1130A>G (p.His377Arg)
NM_000784.4(CYP27A1):c.1134G>A (p.Lys378=)
NM_000784.4(CYP27A1):c.1140del (p.Phe380fs)
NM_000784.4(CYP27A1):c.1145A>C (p.His382Pro)
NM_000784.4(CYP27A1):c.1146C>T (p.His382=)
NM_000784.4(CYP27A1):c.1155G>A (p.Leu385=)
NM_000784.4(CYP27A1):c.115A>T (p.Lys39Ter)
NM_000784.4(CYP27A1):c.1162G>T (p.Ala388Ser)
NM_000784.4(CYP27A1):c.1165G>A (p.Val389Met) rs2105980957
NM_000784.4(CYP27A1):c.1167G>A (p.Val389=)
NM_000784.4(CYP27A1):c.1170T>G (p.Leu390=)
NM_000784.4(CYP27A1):c.1170del (p.Lys391fs)
NM_000784.4(CYP27A1):c.1174G>C (p.Glu392Gln)
NM_000784.4(CYP27A1):c.117G>A (p.Lys39=)
NM_000784.4(CYP27A1):c.1180_1181del (p.Leu394fs) rs1178393503
NM_000784.4(CYP27A1):c.1182G>A (p.Leu394=) rs1421364979
NM_000784.4(CYP27A1):c.1183C>A (p.Arg395Ser) rs121908096
NM_000784.4(CYP27A1):c.1184+16G>A
NM_000784.4(CYP27A1):c.1184+16G>C rs1445661658
NM_000784.4(CYP27A1):c.1184+16G>T rs1445661658
NM_000784.4(CYP27A1):c.1184+1G>C rs587778777
NM_000784.4(CYP27A1):c.1184+20T>C
NM_000784.4(CYP27A1):c.1184+3A>G rs1943757633
NM_000784.4(CYP27A1):c.1184+7C>G rs1575206765
NM_000784.4(CYP27A1):c.1184+7C>T rs1575206765
NM_000784.4(CYP27A1):c.1184+9G>A rs200457116
NM_000784.4(CYP27A1):c.1184+9G>C rs200457116
NM_000784.4(CYP27A1):c.1185-18A>G
NM_000784.4(CYP27A1):c.1185-19G>A
NM_000784.4(CYP27A1):c.1185-1G>T rs587778779
NM_000784.4(CYP27A1):c.1185-2A>G rs1553616457
NM_000784.4(CYP27A1):c.1185-2A>T rs1553616457
NM_000784.4(CYP27A1):c.1185-4G>A rs776459243
NM_000784.4(CYP27A1):c.1185-4G>T rs776459243
NM_000784.4(CYP27A1):c.1185-5T>C rs2105981044
NM_000784.4(CYP27A1):c.1188C>T (p.Leu396=) rs1271161678
NM_000784.4(CYP27A1):c.1191C>A (p.Tyr397Ter) rs2105981050
NM_000784.4(CYP27A1):c.1191C>T (p.Tyr397=)
NM_000784.4(CYP27A1):c.1193del (p.Pro398fs)
NM_000784.4(CYP27A1):c.1196T>C (p.Val399Ala) rs2105981055
NM_000784.4(CYP27A1):c.1196T>G (p.Val399Gly)
NM_000784.4(CYP27A1):c.11_20dup (p.Arg8fs) rs886041342
NM_000784.4(CYP27A1):c.1203C>A (p.Pro401=)
NM_000784.4(CYP27A1):c.1209C>G (p.Asn403Lys) rs587778781
NM_000784.4(CYP27A1):c.1210T>C (p.Ser404Pro)
NM_000784.4(CYP27A1):c.1212C>T (p.Ser404=)
NM_000784.4(CYP27A1):c.1215G>A (p.Arg405=)
NM_000784.4(CYP27A1):c.1215G>T (p.Arg405=)
NM_000784.4(CYP27A1):c.1218C>T (p.Ile406=)
NM_000784.4(CYP27A1):c.1221A>T (p.Ile407=) rs767002858
NM_000784.4(CYP27A1):c.1231A>T (p.Ile411Phe) rs1943764288
NM_000784.4(CYP27A1):c.1232T>C (p.Ile411Thr)
NM_000784.4(CYP27A1):c.1238T>C (p.Val413Ala)
NM_000784.4(CYP27A1):c.1239T>G (p.Val413=)
NM_000784.4(CYP27A1):c.1239dup (p.Asp414Ter) rs2105981099
NM_000784.4(CYP27A1):c.123C>T (p.Thr41=) rs2106479141
NM_000784.4(CYP27A1):c.1241A>G (p.Asp414Gly) rs2105981100
NM_000784.4(CYP27A1):c.1244G>C (p.Gly415Ala) rs755343859
NM_000784.4(CYP27A1):c.1247T>C (p.Phe416Ser)
NM_000784.4(CYP27A1):c.124G>A (p.Gly42Arg) rs2106479143
NM_000784.4(CYP27A1):c.1257C>A (p.Pro419=)
NM_000784.4(CYP27A1):c.1263+10del rs765426068
NM_000784.4(CYP27A1):c.1263+14G>C
NM_000784.4(CYP27A1):c.1263+16G>A
NM_000784.4(CYP27A1):c.1263+19C>T
NM_000784.4(CYP27A1):c.1263+1G>T
NM_000784.4(CYP27A1):c.1263+21del
NM_000784.4(CYP27A1):c.1263+5G>A
NM_000784.4(CYP27A1):c.1263+9G>A
NM_000784.4(CYP27A1):c.1264-14A>G rs1285698631
NM_000784.4(CYP27A1):c.1264-1G>A rs587778785
NM_000784.4(CYP27A1):c.1264-5T>G
NM_000784.4(CYP27A1):c.1264-6T>C rs2105981164
NM_000784.4(CYP27A1):c.1264-7T>G
NM_000784.4(CYP27A1):c.1264-8C>T rs2105981161
NM_000784.4(CYP27A1):c.1266C>A (p.Thr422=) rs2105981167
NM_000784.4(CYP27A1):c.1266C>T (p.Thr422=)
NM_000784.4(CYP27A1):c.1269G>A (p.Gln423=)
NM_000784.4(CYP27A1):c.1273G>C (p.Val425Leu)
NM_000784.4(CYP27A1):c.1273G>T (p.Val425Leu)
NM_000784.4(CYP27A1):c.1275G>A (p.Val425=)
NM_000784.4(CYP27A1):c.1281C>T (p.Cys427=)
NM_000784.4(CYP27A1):c.1282C>T (p.His428Tyr) rs749202662
NM_000784.4(CYP27A1):c.1284C>T (p.His428=) rs1653127444
NM_000784.4(CYP27A1):c.1286A>C (p.Tyr429Ser) rs774127681
NM_000784.4(CYP27A1):c.1293G>A (p.Val431=)
NM_000784.4(CYP27A1):c.1296C>T (p.Ser432=) rs1943766681
NM_000784.4(CYP27A1):c.1300G>C (p.Asp434His)
NM_000784.4(CYP27A1):c.1301A>C (p.Asp434Ala)
NM_000784.4(CYP27A1):c.130C>T (p.Pro44Ser) rs923201483
NM_000784.4(CYP27A1):c.1312T>G (p.Phe438Val)
NM_000784.4(CYP27A1):c.1320G>A (p.Glu440=)
NM_000784.4(CYP27A1):c.1323T>C (p.Pro441=) rs2105981217
NM_000784.4(CYP27A1):c.1328G>T (p.Ser443Ile)
NM_000784.4(CYP27A1):c.1329C>T (p.Ser443=) rs2105981221
NM_000784.4(CYP27A1):c.132C>G (p.Pro44=) rs933195273
NM_000784.4(CYP27A1):c.132C>T (p.Pro44=) rs933195273
NM_000784.4(CYP27A1):c.1330_1333del (p.Phe444fs)
NM_000784.4(CYP27A1):c.1332C>T (p.Phe444=) rs760024535
NM_000784.4(CYP27A1):c.1333C>T (p.Gln445Ter) rs1325218192
NM_000784.4(CYP27A1):c.1336C>G (p.Pro446Ala) rs753166698
NM_000784.4(CYP27A1):c.1336C>T (p.Pro446Ser)
NM_000784.4(CYP27A1):c.1339_1342dup (p.Arg448fs) rs2105981231
NM_000784.4(CYP27A1):c.1342C>A (p.Arg448Ser) rs730882199
NM_000784.4(CYP27A1):c.1343G>T (p.Arg448Leu)
NM_000784.4(CYP27A1):c.1348C>G (p.Leu450Val) rs1039198612
NM_000784.4(CYP27A1):c.1356C>T (p.Asn452=) rs527395716
NM_000784.4(CYP27A1):c.1368T>A (p.Ala456=)
NM_000784.4(CYP27A1):c.1371C>T (p.Thr457=) rs1177463640
NM_000784.4(CYP27A1):c.1374C>T (p.Pro458=)
NM_000784.4(CYP27A1):c.1374del (p.Arg459fs) rs751969035
NM_000784.4(CYP27A1):c.1375del (p.Arg459fs)
NM_000784.4(CYP27A1):c.1379T>G (p.Ile460Ser)
NM_000784.4(CYP27A1):c.1380C>T (p.Ile460=)
NM_000784.4(CYP27A1):c.1381C>T (p.Gln461Ter) rs771819245
NM_000784.4(CYP27A1):c.1388del (p.Pro463fs)
NM_000784.4(CYP27A1):c.1391T>G (p.Phe464Cys) rs2105981257
NM_000784.4(CYP27A1):c.1394G>A (p.Gly465Asp) rs777432192
NM_000784.4(CYP27A1):c.1394G>T (p.Gly465Val) rs777432192
NM_000784.4(CYP27A1):c.1399G>C (p.Val467Leu) rs2105981259
NM_000784.4(CYP27A1):c.1404C>T (p.Pro468=)
NM_000784.4(CYP27A1):c.1409G>T (p.Gly470Val)
NM_000784.4(CYP27A1):c.1410C>T (p.Gly470=) rs770435184
NM_000784.4(CYP27A1):c.1412A>T (p.Tyr471Phe)
NM_000784.4(CYP27A1):c.1415G>A (p.Gly472Glu) rs200883871
NM_000784.4(CYP27A1):c.1416G>A (p.Gly472=)
NM_000784.4(CYP27A1):c.1416G>T (p.Gly472=)
NM_000784.4(CYP27A1):c.1416_1423del (p.Val473fs)
NM_000784.4(CYP27A1):c.141G>A (p.Gly47=)
NM_000784.4(CYP27A1):c.1421G>C (p.Arg474Pro)
NM_000784.4(CYP27A1):c.1422G>A (p.Arg474=)
NM_000784.4(CYP27A1):c.1425C>A (p.Ala475=) rs1008075672
NM_000784.4(CYP27A1):c.1425C>T (p.Ala475=)
NM_000784.4(CYP27A1):c.1427G>A (p.Cys476Tyr) rs1372707807
NM_000784.4(CYP27A1):c.1434_1435delinsAA (p.Arg479Ser) rs2105981299
NM_000784.4(CYP27A1):c.1435C>A (p.Arg479Ser) rs72551322
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly) rs72551322
NM_000784.4(CYP27A1):c.1435C>T (p.Arg479Cys) rs72551322
NM_000784.4(CYP27A1):c.1436G>A (p.Arg479His) rs199638075
NM_000784.4(CYP27A1):c.1436G>C (p.Arg479Pro)
NM_000784.4(CYP27A1):c.1436G>T (p.Arg479Leu) rs199638075
NM_000784.4(CYP27A1):c.1440G>A (p.Arg480=)
NM_000784.4(CYP27A1):c.1440G>C (p.Arg480Ser)
NM_000784.4(CYP27A1):c.1444G>T (p.Ala482Ser)
NM_000784.4(CYP27A1):c.1446A>G (p.Ala482=) rs2105981315
NM_000784.4(CYP27A1):c.1449G>A (p.Glu483=)
NM_000784.4(CYP27A1):c.1452G>C (p.Leu484=)
NM_000784.4(CYP27A1):c.1456A>T (p.Met486Leu) rs150585977
NM_000784.4(CYP27A1):c.1457T>C (p.Met486Thr) rs2105981320
NM_000784.4(CYP27A1):c.1459C>T (p.Gln487Ter) rs1943770060
NM_000784.4(CYP27A1):c.1461G>A (p.Gln487=)
NM_000784.4(CYP27A1):c.1462C>T (p.Leu488=) rs1943770169
NM_000784.4(CYP27A1):c.1463T>C (p.Leu488Pro)
NM_000784.4(CYP27A1):c.1464A>G (p.Leu488=)
NM_000784.4(CYP27A1):c.1466T>A (p.Leu489His) rs2105981325
NM_000784.4(CYP27A1):c.1467C>G (p.Leu489=)
NM_000784.4(CYP27A1):c.1467C>T (p.Leu489=) rs1324313458
NM_000784.4(CYP27A1):c.1468del (p.Leu490fs)
NM_000784.4(CYP27A1):c.1470C>G (p.Leu490=)
NM_000784.4(CYP27A1):c.1471G>A (p.Ala491Thr) rs72551323
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser) rs72551323
NM_000784.4(CYP27A1):c.1472C>T (p.Ala491Val) rs1024898619
NM_000784.4(CYP27A1):c.1473A>C (p.Ala491=)
NM_000784.4(CYP27A1):c.1473A>G (p.Ala491=)
NM_000784.4(CYP27A1):c.1476+10G>A rs1358508044
NM_000784.4(CYP27A1):c.1476+14G>A
NM_000784.4(CYP27A1):c.1476+15G>C
NM_000784.4(CYP27A1):c.1476+17T>C
NM_000784.4(CYP27A1):c.1476+18A>G
NM_000784.4(CYP27A1):c.1476+20T>C rs1575207079
NM_000784.4(CYP27A1):c.1476+2T>A
NM_000784.4(CYP27A1):c.1476+2T>C rs1165952837
NM_000784.4(CYP27A1):c.1477-13C>G
NM_000784.4(CYP27A1):c.1477-13C>T
NM_000784.4(CYP27A1):c.1477-16G>T
NM_000784.4(CYP27A1):c.1477-19T>A
NM_000784.4(CYP27A1):c.1477-19T>C
NM_000784.4(CYP27A1):c.1477-20A>G
NM_000784.4(CYP27A1):c.1477-20A>T rs757019811
NM_000784.4(CYP27A1):c.1477-2A>C rs111570247
NM_000784.4(CYP27A1):c.1477-3C>A rs78938783
NM_000784.4(CYP27A1):c.1477-3C>G rs78938783
NM_000784.4(CYP27A1):c.1477-3C>T rs78938783
NM_000784.4(CYP27A1):c.1477-3del rs2105981409
NM_000784.4(CYP27A1):c.1477-3dup
NM_000784.4(CYP27A1):c.1477-4C>A
NM_000784.4(CYP27A1):c.1477-4C>G
NM_000784.4(CYP27A1):c.1477-4C>T
NM_000784.4(CYP27A1):c.1477-5C>G
NM_000784.4(CYP27A1):c.1477-5C>T rs890298373
NM_000784.4(CYP27A1):c.1477-6C>A
NM_000784.4(CYP27A1):c.1477-6C>T rs1182127092
NM_000784.4(CYP27A1):c.1477-7C>A rs2105981410
NM_000784.4(CYP27A1):c.1477-7C>T
NM_000784.4(CYP27A1):c.1477-8C>A rs1461082000
NM_000784.4(CYP27A1):c.1477-8C>G
NM_000784.4(CYP27A1):c.1477-9A>G rs2105981405
NM_000784.4(CYP27A1):c.1477C>A (p.Leu493Met)
NM_000784.4(CYP27A1):c.147T>C (p.Gly49=)
NM_000784.4(CYP27A1):c.1486A>G (p.Lys496Glu)
NM_000784.4(CYP27A1):c.1497G>C (p.Val499=)
NM_000784.4(CYP27A1):c.1497G>T (p.Val499=) rs1943773164
NM_000784.4(CYP27A1):c.1499T>C (p.Val500Ala)
NM_000784.4(CYP27A1):c.14G>A (p.Gly5Asp) rs1943396793
NM_000784.4(CYP27A1):c.1500C>T (p.Val500=) rs1268917075
NM_000784.4(CYP27A1):c.1506C>T (p.Ala502=)
NM_000784.4(CYP27A1):c.1508C>T (p.Pro503Leu) rs776752717
NM_000784.4(CYP27A1):c.150C>T (p.Val50=) rs1408697261
NM_000784.4(CYP27A1):c.1514C>A (p.Thr505Lys) rs76822427
NM_000784.4(CYP27A1):c.1514C>T (p.Thr505Met) rs76822427
NM_000784.4(CYP27A1):c.1517G>A (p.Gly506Glu)
NM_000784.4(CYP27A1):c.1518G>A (p.Gly506=)
NM_000784.4(CYP27A1):c.1519del (p.Glu507fs) rs2105981467
NM_000784.4(CYP27A1):c.1521G>A (p.Glu507=)
NM_000784.4(CYP27A1):c.1524G>A (p.Leu508=) rs970661282
NM_000784.4(CYP27A1):c.1524G>C (p.Leu508Phe) rs970661282
NM_000784.4(CYP27A1):c.152G>A (p.Arg51Gln)
NM_000784.4(CYP27A1):c.152G>C (p.Arg51Pro) rs1333445399
NM_000784.4(CYP27A1):c.1533G>A (p.Val511=)
NM_000784.4(CYP27A1):c.1534G>C (p.Ala512Pro)
NM_000784.4(CYP27A1):c.1538G>A (p.Arg513His) rs144701596
NM_000784.4(CYP27A1):c.1538G>T (p.Arg513Leu) rs144701596
NM_000784.4(CYP27A1):c.1538_1539delinsTT (p.Arg513Leu) rs2105981476
NM_000784.4(CYP27A1):c.1539C>T (p.Arg513=) rs1575207204
NM_000784.4(CYP27A1):c.1540A>G (p.Ile514Val) rs1178180058
NM_000784.4(CYP27A1):c.1542T>C (p.Ile514=)
NM_000784.4(CYP27A1):c.1545C>T (p.Val515=)
NM_000784.4(CYP27A1):c.1547T>A (p.Leu516Gln)
NM_000784.4(CYP27A1):c.1548G>T (p.Leu516=) rs2105981481
NM_000784.4(CYP27A1):c.1550T>C (p.Val517Ala)
NM_000784.4(CYP27A1):c.1559A>C (p.Lys520Thr) rs1943774432
NM_000784.4(CYP27A1):c.1559A>G (p.Lys520Arg)
NM_000784.4(CYP27A1):c.1563del (p.Val522fs)
NM_000784.4(CYP27A1):c.1568_*118del (p.Gly523_Ter532delinsXaa)
NM_000784.4(CYP27A1):c.1573C>T (p.Gln525Ter) rs374507635
NM_000784.4(CYP27A1):c.1575G>A (p.Gln525=)
NM_000784.4(CYP27A1):c.157C>G (p.Arg53Gly) rs757522001
NM_000784.4(CYP27A1):c.157C>T (p.Arg53Trp)
NM_000784.4(CYP27A1):c.1581G>A (p.Leu527=)
NM_000784.4(CYP27A1):c.1589A>G (p.Gln530Arg) rs911127639
NM_000784.4(CYP27A1):c.1591T>G (p.Cys531Gly) rs1943775075
NM_000784.4(CYP27A1):c.1593C>T (p.Cys531=) rs1481894464
NM_000784.4(CYP27A1):c.15C>T (p.Gly5=) rs1943396825
NM_000784.4(CYP27A1):c.165G>A (p.Arg55=) rs2106479159
NM_000784.4(CYP27A1):c.172GAG[1] (p.Glu59del) rs766316288
NM_000784.4(CYP27A1):c.175G>A (p.Glu59Lys)
NM_000784.4(CYP27A1):c.181C>A (p.Pro61Thr)
NM_000784.4(CYP27A1):c.183A>C (p.Pro61=)
NM_000784.4(CYP27A1):c.185G>A (p.Arg62His)
NM_000784.4(CYP27A1):c.185G>C (p.Arg62Pro)
NM_000784.4(CYP27A1):c.187C>T (p.Leu63=)
NM_000784.4(CYP27A1):c.189A>C (p.Leu63=)
NM_000784.4(CYP27A1):c.193C>G (p.Gln65Glu) rs1553614310
NM_000784.4(CYP27A1):c.197T>C (p.Leu66Pro) rs1191317525
NM_000784.4(CYP27A1):c.199C>T (p.Arg67Cys) rs1943400890
NM_000784.4(CYP27A1):c.200G>A (p.Arg67His)
NM_000784.4(CYP27A1):c.201C>T (p.Arg67=)
NM_000784.4(CYP27A1):c.201CTT[2] (p.Phe70del) rs774193477
NM_000784.4(CYP27A1):c.205T>C (p.Phe69Leu) rs2106479175
NM_000784.4(CYP27A1):c.219C>A (p.Phe73Leu)
NM_000784.4(CYP27A1):c.219C>T (p.Phe73=)
NM_000784.4(CYP27A1):c.21G>A (p.Ala7=) rs1289665937
NM_000784.4(CYP27A1):c.21G>C (p.Ala7=) rs1289665937
NM_000784.4(CYP27A1):c.220G>C (p.Val74Leu)
NM_000784.4(CYP27A1):c.223C>A (p.Gln75Lys)
NM_000784.4(CYP27A1):c.223C>G (p.Gln75Glu)
NM_000784.4(CYP27A1):c.230A>G (p.Tyr77Cys)
NM_000784.4(CYP27A1):c.231T>C (p.Tyr77=)
NM_000784.4(CYP27A1):c.232G>C (p.Ala78Pro)
NM_000784.4(CYP27A1):c.233C>G (p.Ala78Gly) rs867496731
NM_000784.4(CYP27A1):c.235C>T (p.Leu79=) rs1387640811
NM_000784.4(CYP27A1):c.237G>C (p.Leu79=) rs1295302612
NM_000784.4(CYP27A1):c.238C>T (p.Gln80Ter)
NM_000784.4(CYP27A1):c.246C>T (p.His82=)
NM_000784.4(CYP27A1):c.247C>G (p.Gln83Glu) rs2106479200
NM_000784.4(CYP27A1):c.24G>A (p.Arg8=)
NM_000784.4(CYP27A1):c.24dup (p.Leu9fs) rs1163340926
NM_000784.4(CYP27A1):c.252dup (p.Gln85fs)
NM_000784.4(CYP27A1):c.253C>T (p.Gln85Ter) rs1333458369
NM_000784.4(CYP27A1):c.255+10G>A
NM_000784.4(CYP27A1):c.255+14G>A
NM_000784.4(CYP27A1):c.255+14G>T rs767761739
NM_000784.4(CYP27A1):c.255+15C>T
NM_000784.4(CYP27A1):c.255+20C>A rs1943402023
NM_000784.4(CYP27A1):c.255+7C>G
NM_000784.4(CYP27A1):c.255+7del
NM_000784.4(CYP27A1):c.255G>A (p.Gln85=)
NM_000784.4(CYP27A1):c.256-10A>G rs2105978797
NM_000784.4(CYP27A1):c.256-16T>G
NM_000784.4(CYP27A1):c.256-17T>G
NM_000784.4(CYP27A1):c.256-1G>T rs886556800
NM_000784.4(CYP27A1):c.256-20G>A
NM_000784.4(CYP27A1):c.256-2A>G rs1559391390
NM_000784.4(CYP27A1):c.256-5C>T rs768029983
NM_000784.4(CYP27A1):c.256-6C>T
NM_000784.4(CYP27A1):c.256-9A>C
NM_000784.4(CYP27A1):c.256G>T (p.Val86Leu)
NM_000784.4(CYP27A1):c.258G>A (p.Val86=) rs2105978806
NM_000784.4(CYP27A1):c.259C>T (p.Leu87Phe) rs1170171291
NM_000784.4(CYP27A1):c.25C>T (p.Leu9=) rs2106479038
NM_000784.4(CYP27A1):c.26T>C (p.Leu9Pro)
NM_000784.4(CYP27A1):c.279T>C (p.Gly93=) rs773872361
NM_000784.4(CYP27A1):c.287G>A (p.Trp96Ter) rs1943689766
NM_000784.4(CYP27A1):c.290T>G (p.Met97Arg)
NM_000784.4(CYP27A1):c.29G>A (p.Arg10Lys)
NM_000784.4(CYP27A1):c.303G>T (p.Gly101=) rs2105978833
NM_000784.4(CYP27A1):c.303del (p.Pro102fs)
NM_000784.4(CYP27A1):c.309G>A (p.Gln103=) rs1306558952
NM_000784.4(CYP27A1):c.315C>A (p.His105Gln) rs753981913
NM_000784.4(CYP27A1):c.316G>A (p.Val106Met) rs374769409
NM_000784.4(CYP27A1):c.321C>T (p.Asn107=) rs755282568
NM_000784.4(CYP27A1):c.327C>G (p.Ala109=) rs2105978849
NM_000784.4(CYP27A1):c.332C>A (p.Ala111Asp)
NM_000784.4(CYP27A1):c.332C>G (p.Ala111Gly) rs1441761338
NM_000784.4(CYP27A1):c.335C>G (p.Pro112Arg) rs531504325
NM_000784.4(CYP27A1):c.338T>C (p.Leu113Pro)
NM_000784.4(CYP27A1):c.339C>G (p.Leu113=)
NM_000784.4(CYP27A1):c.339C>T (p.Leu113=)
NM_000784.4(CYP27A1):c.345G>A (p.Glu115=) rs919883150
NM_000784.4(CYP27A1):c.350T>C (p.Val117Ala)
NM_000784.4(CYP27A1):c.351G>C (p.Val117=)
NM_000784.4(CYP27A1):c.351G>T (p.Val117=)
NM_000784.4(CYP27A1):c.355C>A (p.Arg119=)
NM_000784.4(CYP27A1):c.356G>A (p.Arg119Gln)
NM_000784.4(CYP27A1):c.358C>T (p.Gln120Ter) rs1943690848
NM_000784.4(CYP27A1):c.363G>A (p.Glu121=)
NM_000784.4(CYP27A1):c.369G>A (p.Lys123=) rs2105978882
NM_000784.4(CYP27A1):c.36G>A (p.Ala12=)
NM_000784.4(CYP27A1):c.36G>C (p.Ala12=)
NM_000784.4(CYP27A1):c.371A>T (p.Tyr124Phe)
NM_000784.4(CYP27A1):c.372C>T (p.Tyr124=)
NM_000784.4(CYP27A1):c.373_379del (p.Pro125fs) rs587778794
NM_000784.4(CYP27A1):c.375A>G (p.Pro125=)
NM_000784.4(CYP27A1):c.383A>G (p.Asn128Ser)
NM_000784.4(CYP27A1):c.385G>A (p.Asp129Asn)
NM_000784.4(CYP27A1):c.390G>A (p.Met130Ile)
NM_000784.4(CYP27A1):c.393G>A (p.Glu131=) rs911534514
NM_000784.4(CYP27A1):c.394C>T (p.Leu132=) rs1237307385
NM_000784.4(CYP27A1):c.396A>G (p.Leu132=)
NM_000784.4(CYP27A1):c.398G>A (p.Trp133Ter) rs1559391480
NM_000784.4(CYP27A1):c.39G>A (p.Leu13=) rs2106479059
NM_000784.4(CYP27A1):c.401A>C (p.Lys134Thr)
NM_000784.4(CYP27A1):c.409C>A (p.Arg137=)
NM_000784.4(CYP27A1):c.410G>C (p.Arg137Pro)
NM_000784.4(CYP27A1):c.411G>A (p.Arg137=) rs1275203092
NM_000784.4(CYP27A1):c.412G>C (p.Asp138His)
NM_000784.4(CYP27A1):c.417G>A (p.Gln139=)
NM_000784.4(CYP27A1):c.420C>A (p.His140Gln) rs139415581
NM_000784.4(CYP27A1):c.421G>A (p.Asp141Asn)
NM_000784.4(CYP27A1):c.423C>T (p.Asp141=) rs1943692779
NM_000784.4(CYP27A1):c.426G>A (p.Leu142=)
NM_000784.4(CYP27A1):c.426G>T (p.Leu142=)
NM_000784.4(CYP27A1):c.426del (p.Thr143fs) rs2105978931
NM_000784.4(CYP27A1):c.429C>G (p.Thr143=)
NM_000784.4(CYP27A1):c.42A>T (p.Arg14=)
NM_000784.4(CYP27A1):c.433G>A (p.Gly145Arg) rs587778795
NM_000784.4(CYP27A1):c.435G>A (p.Gly145=)
NM_000784.4(CYP27A1):c.437C>T (p.Pro146Leu)
NM_000784.4(CYP27A1):c.440_446+2del rs2105978950
NM_000784.4(CYP27A1):c.444C>T (p.Thr148=) rs2105978956
NM_000784.4(CYP27A1):c.446+10G>A rs200400166
NM_000784.4(CYP27A1):c.446+18G>A
NM_000784.4(CYP27A1):c.446+18G>C
NM_000784.4(CYP27A1):c.446+1G>T rs587778797
NM_000784.4(CYP27A1):c.446+20_446+25del
NM_000784.4(CYP27A1):c.446+8G>A rs950113577
NM_000784.4(CYP27A1):c.446+9G>T
NM_000784.4(CYP27A1):c.447-12G>T
NM_000784.4(CYP27A1):c.447-13T>G
NM_000784.4(CYP27A1):c.447-15T>C
NM_000784.4(CYP27A1):c.447-1G>A rs2105979879
NM_000784.4(CYP27A1):c.447-3C>A
NM_000784.4(CYP27A1):c.447-4G>T rs2105979874
NM_000784.4(CYP27A1):c.447-8C>A
NM_000784.4(CYP27A1):c.447-8C>G
NM_000784.4(CYP27A1):c.447-9T>A
NM_000784.4(CYP27A1):c.447-9T>C
NM_000784.4(CYP27A1):c.450A>G (p.Glu150=) rs749515902
NM_000784.4(CYP27A1):c.453A>G (p.Gly151=) rs2105979882
NM_000784.4(CYP27A1):c.455A>C (p.His152Pro) rs768932304
NM_000784.4(CYP27A1):c.455A>T (p.His152Leu)
NM_000784.4(CYP27A1):c.456C>T (p.His152=) rs1943723875
NM_000784.4(CYP27A1):c.45G>C (p.Gly15=)
NM_000784.4(CYP27A1):c.45_46del (p.Ala16fs) rs1413976755
NM_000784.4(CYP27A1):c.461G>A (p.Trp154Ter)
NM_000784.4(CYP27A1):c.465C>A (p.Tyr155Ter)
NM_000784.4(CYP27A1):c.465C>T (p.Tyr155=) rs553140875
NM_000784.4(CYP27A1):c.46dup (p.Ala16fs) rs1413976755
NM_000784.4(CYP27A1):c.470T>C (p.Leu157Pro) rs1270373689
NM_000784.4(CYP27A1):c.473G>T (p.Arg158Leu)
NM_000784.4(CYP27A1):c.478G>A (p.Ala160Thr) rs2105979908
NM_000784.4(CYP27A1):c.481C>G (p.Leu161Val) rs759338714
NM_000784.4(CYP27A1):c.48C>A (p.Ala16=) rs2106479063
NM_000784.4(CYP27A1):c.48C>G (p.Ala16=) rs2106479063
NM_000784.4(CYP27A1):c.48C>T (p.Ala16=)
NM_000784.4(CYP27A1):c.491G>A (p.Arg164Gln) rs148417330
NM_000784.4(CYP27A1):c.491G>C (p.Arg164Pro) rs148417330
NM_000784.4(CYP27A1):c.492G>T (p.Arg164=) rs2105979919
NM_000784.4(CYP27A1):c.498G>A (p.Leu166=)
NM_000784.4(CYP27A1):c.4dup (p.Ala2fs)
NM_000784.4(CYP27A1):c.506C>A (p.Ala169Glu) rs59443548
NM_000784.4(CYP27A1):c.506C>G (p.Ala169Gly) rs59443548
NM_000784.4(CYP27A1):c.506C>T (p.Ala169Val) rs59443548
NM_000784.4(CYP27A1):c.506_507delinsA (p.Ala169fs) rs1559392331
NM_000784.4(CYP27A1):c.517C>T (p.Leu173Phe)
NM_000784.4(CYP27A1):c.51C>T (p.Gly17=)
NM_000784.4(CYP27A1):c.522T>C (p.Tyr174=)
NM_000784.4(CYP27A1):c.525G>T (p.Thr175=) rs200506778
NM_000784.4(CYP27A1):c.526del (p.Asp176fs) rs765512351
NM_000784.4(CYP27A1):c.52C>T (p.Arg18Cys)
NM_000784.4(CYP27A1):c.530C>T (p.Ala177Val) rs773103625
NM_000784.4(CYP27A1):c.536del (p.Asn179fs)
NM_000784.4(CYP27A1):c.538G>A (p.Glu180Lys) rs1943725580
NM_000784.4(CYP27A1):c.540G>A (p.Glu180=) rs1238433654
NM_000784.4(CYP27A1):c.543G>T (p.Val181=) rs2105979971
NM_000784.4(CYP27A1):c.547del (p.Asp183fs)
NM_000784.4(CYP27A1):c.54T>C (p.Arg18=)
NM_000784.4(CYP27A1):c.550G>A (p.Asp184Asn)
NM_000784.4(CYP27A1):c.555del (p.Phe185fs)
NM_000784.4(CYP27A1):c.559A>G (p.Thr187Ala)
NM_000784.4(CYP27A1):c.55G>A (p.Gly19Ser)
NM_000784.4(CYP27A1):c.563G>T (p.Arg188Leu)
NM_000784.4(CYP27A1):c.564A>T (p.Arg188=) rs2105979989
NM_000784.4(CYP27A1):c.565C>T (p.Leu189=)
NM_000784.4(CYP27A1):c.56G>C (p.Gly19Ala) rs1203579586
NM_000784.4(CYP27A1):c.574C>T (p.Leu192=)
NM_000784.4(CYP27A1):c.577C>A (p.Arg193=)
NM_000784.4(CYP27A1):c.57C>A (p.Gly19=)
NM_000784.4(CYP27A1):c.580G>A (p.Ala194Thr)
NM_000784.4(CYP27A1):c.582A>G (p.Ala194=)
NM_000784.4(CYP27A1):c.586_587del (p.Ser196fs) rs758739930
NM_000784.4(CYP27A1):c.590C>G (p.Ala197Gly)
NM_000784.4(CYP27A1):c.594G>C (p.Ser198=)
NM_000784.4(CYP27A1):c.595G>A (p.Gly199Arg) rs2105980019
NM_000784.4(CYP27A1):c.597G>A (p.Gly199=) rs2105980020
NM_000784.4(CYP27A1):c.597G>T (p.Gly199=) rs2105980020
NM_000784.4(CYP27A1):c.5dup (p.Ala3fs) rs587778802
NM_000784.4(CYP27A1):c.606G>A (p.Val202=) rs1451997056
NM_000784.4(CYP27A1):c.606G>T (p.Val202=) rs1451997056
NM_000784.4(CYP27A1):c.621A>G (p.Gln207=)
NM_000784.4(CYP27A1):c.624C>A (p.Leu208=)
NM_000784.4(CYP27A1):c.628T>C (p.Tyr210His)
NM_000784.4(CYP27A1):c.630C>T (p.Tyr210=) rs2105980041
NM_000784.4(CYP27A1):c.639C>T (p.Ala213=)
NM_000784.4(CYP27A1):c.639del (p.Leu214fs)
NM_000784.4(CYP27A1):c.63C>T (p.Cys21=) rs781222632
NM_000784.4(CYP27A1):c.641T>C (p.Leu214Ser) rs2105980045
NM_000784.4(CYP27A1):c.642G>A (p.Leu214=)
NM_000784.4(CYP27A1):c.643G>T (p.Glu215Ter) rs761663976
NM_000784.4(CYP27A1):c.646+10C>T
NM_000784.4(CYP27A1):c.646+11T>C
NM_000784.4(CYP27A1):c.646+13G>T
NM_000784.4(CYP27A1):c.646+19G>A
NM_000784.4(CYP27A1):c.646+1G>A
NM_000784.4(CYP27A1):c.646+2T>C rs1553616253
NM_000784.4(CYP27A1):c.646+8T>C
NM_000784.4(CYP27A1):c.646+8del rs1943728243
NM_000784.4(CYP27A1):c.646+9G>C rs760140162
NM_000784.4(CYP27A1):c.647-10C>T
NM_000784.4(CYP27A1):c.647-16T>G
NM_000784.4(CYP27A1):c.647-17C>A
NM_000784.4(CYP27A1):c.647-17C>T rs774331706
NM_000784.4(CYP27A1):c.647-18C>A
NM_000784.4(CYP27A1):c.647-18C>T
NM_000784.4(CYP27A1):c.647-19G>A
NM_000784.4(CYP27A1):c.647-1G>A
NM_000784.4(CYP27A1):c.647-3C>A rs1943729710
NM_000784.4(CYP27A1):c.647-7T>C
NM_000784.4(CYP27A1):c.647-9A>G
NM_000784.4(CYP27A1):c.649A>C (p.Ile217Leu) rs886042256
NM_000784.4(CYP27A1):c.654del (p.Tyr219fs)
NM_000784.4(CYP27A1):c.657C>T (p.Tyr219=) rs1414259537
NM_000784.4(CYP27A1):c.659T>A (p.Ile220Asn) rs1559392536
NM_000784.4(CYP27A1):c.660C>T (p.Ile220=) rs1400244740
NM_000784.4(CYP27A1):c.663G>A (p.Leu221=)
NM_000784.4(CYP27A1):c.666_678del (p.Phe222fs) rs755532803
NM_000784.4(CYP27A1):c.667G>C (p.Glu223Gln) rs760323157
NM_000784.4(CYP27A1):c.667G>T (p.Glu223Ter)
NM_000784.4(CYP27A1):c.669G>A (p.Glu223=) rs2105980119
NM_000784.4(CYP27A1):c.66C>G (p.Pro22=) rs1423345815
NM_000784.4(CYP27A1):c.66C>T (p.Pro22=) rs1423345815
NM_000784.4(CYP27A1):c.672A>G (p.Lys224=)
NM_000784.4(CYP27A1):c.674G>T (p.Arg225Leu)
NM_000784.4(CYP27A1):c.675C>T (p.Arg225=)
NM_000784.4(CYP27A1):c.678T>C (p.Ile226=)
NM_000784.4(CYP27A1):c.67dup (p.His23fs) rs1559384522
NM_000784.4(CYP27A1):c.682T>C (p.Cys228Arg) rs1553616268
NM_000784.4(CYP27A1):c.684C>T (p.Cys228=) rs1180200717
NM_000784.4(CYP27A1):c.689dup (p.Arg231fs)
NM_000784.4(CYP27A1):c.692G>A (p.Arg231Gln)
NM_000784.4(CYP27A1):c.693A>T (p.Arg231=) rs1187804477
NM_000784.4(CYP27A1):c.696C>T (p.Ser232=)
NM_000784.4(CYP27A1):c.69_82del (p.His23fs) rs1943398587
NM_000784.4(CYP27A1):c.6T>G (p.Ala2=)
NM_000784.4(CYP27A1):c.700C>A (p.Pro234Thr) rs2105980154
NM_000784.4(CYP27A1):c.701C>T (p.Pro234Leu) rs1943733556
NM_000784.4(CYP27A1):c.702C>G (p.Pro234=)
NM_000784.4(CYP27A1):c.702del (p.Glu235fs) rs2105980153
NM_000784.4(CYP27A1):c.706G>A (p.Asp236Asn) rs144068826
NM_000784.4(CYP27A1):c.710C>T (p.Thr237Ile)
NM_000784.4(CYP27A1):c.713_716dup (p.Phe240fs)
NM_000784.4(CYP27A1):c.717C>G (p.Thr239=)
NM_000784.4(CYP27A1):c.717C>T (p.Thr239=)
NM_000784.4(CYP27A1):c.721G>A (p.Val241Ile) rs369660141
NM_000784.4(CYP27A1):c.721G>T (p.Val241Phe)
NM_000784.4(CYP27A1):c.735G>A (p.Gly245=) rs770631614
NM_000784.4(CYP27A1):c.735G>T (p.Gly245=) rs770631614
NM_000784.4(CYP27A1):c.738A>G (p.Leu246=)
NM_000784.4(CYP27A1):c.746A>T (p.Gln249Leu)
NM_000784.4(CYP27A1):c.749A>G (p.Asn250Ser)
NM_000784.4(CYP27A1):c.750C>T (p.Asn250=)
NM_000784.4(CYP27A1):c.751T>C (p.Ser251Pro)
NM_000784.4(CYP27A1):c.753_754del (p.Tyr253fs) rs1559392634
NM_000784.4(CYP27A1):c.756C>A (p.Leu252=) rs1559392636
NM_000784.4(CYP27A1):c.758A>G (p.Tyr253Cys)
NM_000784.4(CYP27A1):c.759T>C (p.Tyr253=) rs2105980208
NM_000784.4(CYP27A1):c.75C>G (p.Ala25=)
NM_000784.4(CYP27A1):c.765C>G (p.Thr255=) rs1431924945
NM_000784.4(CYP27A1):c.765C>T (p.Thr255=) rs1431924945
NM_000784.4(CYP27A1):c.765_766del (p.Phe256fs) rs2105980214
NM_000784.4(CYP27A1):c.767T>G (p.Phe256Cys) rs2105980216
NM_000784.4(CYP27A1):c.769C>T (p.Leu257Phe) rs763461546
NM_000784.4(CYP27A1):c.777G>A (p.Lys259=)
NM_000784.4(CYP27A1):c.785G>A (p.Arg262His) rs757682669
NM_000784.4(CYP27A1):c.785G>T (p.Arg262Leu) rs757682669
NM_000784.4(CYP27A1):c.786C>T (p.Arg262=)
NM_000784.4(CYP27A1):c.794T>C (p.Leu265Pro)
NM_000784.4(CYP27A1):c.795G>A (p.Leu265=)
NM_000784.4(CYP27A1):c.798T>C (p.Pro266=) rs1575206137
NM_000784.4(CYP27A1):c.79dup (p.Ala27fs)
NM_000784.4(CYP27A1):c.801C>T (p.Phe267=) rs2105980247
NM_000784.4(CYP27A1):c.802T>C (p.Trp268Arg) rs535323883
NM_000784.4(CYP27A1):c.803G>A (p.Trp268Ter) rs1943736070
NM_000784.4(CYP27A1):c.804G>T (p.Trp268Cys) rs1943736101
NM_000784.4(CYP27A1):c.808C>T (p.Arg270Ter) rs72551318
NM_000784.4(CYP27A1):c.813C>G (p.Tyr271Ter) rs532134925
NM_000784.4(CYP27A1):c.813C>T (p.Tyr271=) rs532134925
NM_000784.4(CYP27A1):c.816G>C (p.Leu272=)
NM_000784.4(CYP27A1):c.816G>T (p.Leu272=)
NM_000784.4(CYP27A1):c.819del (p.Asp273fs) rs587778812
NM_000784.4(CYP27A1):c.821G>C (p.Gly274Ala) rs1167915356
NM_000784.4(CYP27A1):c.825G>A (p.Trp275Ter)
NM_000784.4(CYP27A1):c.828T>G (p.Asn276Lys) rs774999308
NM_000784.4(CYP27A1):c.831C>T (p.Ala277=)
NM_000784.4(CYP27A1):c.834C>A (p.Ile278=)
NM_000784.4(CYP27A1):c.844+10C>T
NM_000784.4(CYP27A1):c.844+13A>T
NM_000784.4(CYP27A1):c.844+14G>C
NM_000784.4(CYP27A1):c.844+1G>A rs397515354
NM_000784.4(CYP27A1):c.844+1G>T
NM_000784.4(CYP27A1):c.844+4A>G rs1016174396
NM_000784.4(CYP27A1):c.844+5_844+6insATGTGGTGAGAGTCTGAGAGGACTTTCCTTTGGTGAGAGTCTGAGAG
NM_000784.4(CYP27A1):c.844+6G>A rs1943737223
NM_000784.4(CYP27A1):c.844+9T>G
NM_000784.4(CYP27A1):c.845-10G>A
NM_000784.4(CYP27A1):c.845-11T>C
NM_000784.4(CYP27A1):c.845-12T>C
NM_000784.4(CYP27A1):c.845-13G>A rs1398037639
NM_000784.4(CYP27A1):c.845-1G>C
NM_000784.4(CYP27A1):c.845-2A>G rs1553616312
NM_000784.4(CYP27A1):c.845-6T>C rs2105980379
NM_000784.4(CYP27A1):c.847A>T (p.Lys283Ter) rs1057519469
NM_000784.4(CYP27A1):c.851A>G (p.Lys284Arg)
NM_000784.4(CYP27A1):c.855G>A (p.Leu285=)
NM_000784.4(CYP27A1):c.855G>T (p.Leu285=)
NM_000784.4(CYP27A1):c.858T>C (p.Ile286=) rs2105980390
NM_000784.4(CYP27A1):c.85G>A (p.Ala29Thr)
NM_000784.4(CYP27A1):c.861T>C (p.Asp287=) rs762359911
NM_000784.4(CYP27A1):c.862G>A (p.Glu288Lys) rs2105980394
NM_000784.4(CYP27A1):c.864G>A (p.Glu288=)
NM_000784.4(CYP27A1):c.868C>T (p.Leu290Phe) rs2105980402
NM_000784.4(CYP27A1):c.869T>C (p.Leu290Pro)
NM_000784.4(CYP27A1):c.870C>G (p.Leu290=) rs202136743
NM_000784.4(CYP27A1):c.876T>C (p.Asp292=)
NM_000784.4(CYP27A1):c.877A>T (p.Met293Leu) rs1412455358
NM_000784.4(CYP27A1):c.87C>T (p.Ala29=) rs1310841339
NM_000784.4(CYP27A1):c.884C>A (p.Ala295Asp)
NM_000784.4(CYP27A1):c.884C>T (p.Ala295Val) rs1417655712
NM_000784.4(CYP27A1):c.903G>C (p.Gly301=) rs2105980427
NM_000784.4(CYP27A1):c.903G>T (p.Gly301=)
NM_000784.4(CYP27A1):c.905C>A (p.Pro302Gln)
NM_000784.4(CYP27A1):c.909T>C (p.Asp303=) rs1316018823
NM_000784.4(CYP27A1):c.912C>T (p.Gly304=)
NM_000784.4(CYP27A1):c.917A>G (p.Gln306Arg)
NM_000784.4(CYP27A1):c.918G>A (p.Gln306=)
NM_000784.4(CYP27A1):c.923C>T (p.Ser308Phe) rs2105980439
NM_000784.4(CYP27A1):c.931C>T (p.Leu311=)
NM_000784.4(CYP27A1):c.932T>A (p.Leu311Gln)
NM_000784.4(CYP27A1):c.933G>A (p.Leu311=)
NM_000784.4(CYP27A1):c.935A>C (p.His312Pro) rs1275856308
NM_000784.4(CYP27A1):c.939C>T (p.Phe313=)
NM_000784.4(CYP27A1):c.942A>T (p.Leu314Phe)
NM_000784.4(CYP27A1):c.944_948del (p.Leu315fs) rs397515356
NM_000784.4(CYP27A1):c.955C>T (p.Gln319Ter) rs1943741125
NM_000784.4(CYP27A1):c.957G>A (p.Gln319=) rs1943741154
NM_000784.4(CYP27A1):c.967C>A (p.Arg323=)
NM_000784.4(CYP27A1):c.969G>A (p.Arg323=)
NM_000784.4(CYP27A1):c.970G>A (p.Glu324Lys) rs2105980462
NM_000784.4(CYP27A1):c.975C>T (p.Ala325=) rs2105980465
NM_000784.4(CYP27A1):c.976A>G (p.Met326Val)
NM_000784.4(CYP27A1):c.978G>A (p.Met326Ile)
NM_000784.4(CYP27A1):c.97G>A (p.Ala33Thr) rs1275043449
NM_000784.4(CYP27A1):c.981C>A (p.Gly327=) rs1400093675
NM_000784.4(CYP27A1):c.984C>T (p.Ser328=)
NM_000784.4(CYP27A1):c.987G>A (p.Leu329=) rs2105980473
NM_000784.4(CYP27A1):c.987G>C (p.Leu329=)
NM_000784.4(CYP27A1):c.988C>T (p.Pro330Ser) rs1399829248
NM_000784.4(CYP27A1):c.995T>G (p.Leu332Arg)
NM_000784.4(CYP27A1):c.996G>T (p.Leu332=)
NM_000784.4(CYP27A1):c.99C>T (p.Ala33=) rs967210940
NM_000784.4(CYP27A1):c.9G>A (p.Ala3=)
NM_000784.4(CYP27A1):c.9G>T (p.Ala3=) rs971599666
NM_000784.4(CYP27A1):c.9_10delinsAA (p.Leu4Met)
NM_001127178.3(PIGG):c.1002C>T (p.Leu334=)
NM_001127178.3(PIGG):c.1026A>G (p.Arg342=) rs2108885146
NM_001127178.3(PIGG):c.102C>A (p.Ser34=)
NM_001127178.3(PIGG):c.1030A>C (p.Met344Leu) rs757141700
NM_001127178.3(PIGG):c.1031T>G (p.Met344Arg) rs1371886997
NM_001127178.3(PIGG):c.1039C>G (p.Gln347Glu) rs750397454
NM_001127178.3(PIGG):c.1040A>T (p.Gln347Leu) rs1372573213
NM_001127178.3(PIGG):c.1044G>A (p.Leu348=) rs779739089
NM_001127178.3(PIGG):c.1046_1060dup (p.Arg349_Leu353dup) rs2108885433
NM_001127178.3(PIGG):c.1058T>G (p.Leu353Trp)
NM_001127178.3(PIGG):c.105T>C (p.Ser35=)
NM_001127178.3(PIGG):c.1065A>G (p.Thr355=) rs771388894
NM_001127178.3(PIGG):c.1067T>C (p.Val356Ala)
NM_001127178.3(PIGG):c.1068G>A (p.Val356=) rs2108885747
NM_001127178.3(PIGG):c.1080A>G (p.Lys360=)
NM_001127178.3(PIGG):c.1081C>G (p.Leu361Val)
NM_001127178.3(PIGG):c.108C>T (p.Ala36=) rs2108737500
NM_001127178.3(PIGG):c.1095T>C (p.Asn365=)
NM_001127178.3(PIGG):c.1100C>T (p.Pro367Leu)
NM_001127178.3(PIGG):c.1101G>T (p.Pro367=) rs190524353
NM_001127178.3(PIGG):c.1106_1107del (p.Ser368_Tyr369insTer) rs1560313832
NM_001127178.3(PIGG):c.110G>C (p.Arg37Thr) rs782188298
NM_001127178.3(PIGG):c.1114+16G>C
NM_001127178.3(PIGG):c.1114+20C>G
NM_001127178.3(PIGG):c.1114+20C>T rs754586587
NM_001127178.3(PIGG):c.1114+2T>G
NM_001127178.3(PIGG):c.1114+3C>T rs2108886203
NM_001127178.3(PIGG):c.1115-14dup
NM_001127178.3(PIGG):c.1115-17_1115-14del rs752193728
NM_001127178.3(PIGG):c.1115-3T>C rs780224249
NM_001127178.3(PIGG):c.1117C>G (p.Pro373Ala)
NM_001127178.3(PIGG):c.1120G>C (p.Gly374Arg)
NM_001127178.3(PIGG):c.1126G>A (p.Glu376Lys)
NM_001127178.3(PIGG):c.1131G>A (p.Gln377=)
NM_001127178.3(PIGG):c.1140G>T (p.Met380Ile)
NM_001127178.3(PIGG):c.1148G>T (p.Arg383Ile) rs748283787
NM_001127178.3(PIGG):c.1158G>A (p.Gly386=) rs2108939856
NM_001127178.3(PIGG):c.1163G>A (p.Trp388Ter) rs1560330387
NM_001127178.3(PIGG):c.1167C>G (p.Ile389Met)
NM_001127178.3(PIGG):c.1167C>T (p.Ile389=) rs1453400174
NM_001127178.3(PIGG):c.1173_1174del (p.Tyr392fs) rs2108940028
NM_001127178.3(PIGG):c.1175A>G (p.Tyr392Cys) rs2108940084
NM_001127178.3(PIGG):c.1176C>T (p.Tyr392=)
NM_001127178.3(PIGG):c.1177T>C (p.Leu393=)
NM_001127178.3(PIGG):c.1191T>C (p.His397=) rs770865979
NM_001127178.3(PIGG):c.1199T>C (p.Val400Ala) rs2108940330
NM_001127178.3(PIGG):c.1203A>G (p.Leu401=)
NM_001127178.3(PIGG):c.1208A>G (p.Asn403Ser) rs139826164
NM_001127178.3(PIGG):c.1210C>G (p.Leu404Val) rs1347377154
NM_001127178.3(PIGG):c.1210C>T (p.Leu404=)
NM_001127178.3(PIGG):c.1211T>C (p.Leu404Pro) rs1725738658
NM_001127178.3(PIGG):c.1216T>G (p.Ser406Ala)
NM_001127178.3(PIGG):c.1220A>G (p.Lys407Arg)
NM_001127178.3(PIGG):c.1221G>T (p.Lys407Asn) rs763590962
NM_001127178.3(PIGG):c.1227C>G (p.Leu409=) rs202149146
NM_001127178.3(PIGG):c.1231C>T (p.Gln411Ter) rs780498908
NM_001127178.3(PIGG):c.1233G>A (p.Gln411=) rs751820711
NM_001127178.3(PIGG):c.1239G>A (p.Leu413=)
NM_001127178.3(PIGG):c.1243G>T (p.Ala415Ser) rs1725754692
NM_001127178.3(PIGG):c.1244C>T (p.Ala415Val)
NM_001127178.3(PIGG):c.1246C>T (p.Leu416=)
NM_001127178.3(PIGG):c.1255C>A (p.Leu419Met)
NM_001127178.3(PIGG):c.1258A>C (p.Ser420Arg) rs2108941260
NM_001127178.3(PIGG):c.1269G>C (p.Leu423=)
NM_001127178.3(PIGG):c.1275A>T (p.Ala425=) rs774227481
NM_001127178.3(PIGG):c.1277A>G (p.Gln426Arg) rs2108941430
NM_001127178.3(PIGG):c.1281G>A (p.Val427=) rs775475582
NM_001127178.3(PIGG):c.1285dup (p.Gln429fs)
NM_001127178.3(PIGG):c.1291_1293del (p.Asp431del) rs748953729
NM_001127178.3(PIGG):c.1296C>T (p.Ile432=)
NM_001127178.3(PIGG):c.1302G>A (p.Ser434=)
NM_001127178.3(PIGG):c.1306A>G (p.Met436Val) rs755361495
NM_001127178.3(PIGG):c.1307T>C (p.Met436Thr) rs2108941959
NM_001127178.3(PIGG):c.131C>A (p.Pro44His) rs1192177850
NM_001127178.3(PIGG):c.131C>G (p.Pro44Arg)
NM_001127178.3(PIGG):c.1321G>C (p.Val441Leu) rs202037650
NM_001127178.3(PIGG):c.1332+15A>G
NM_001127178.3(PIGG):c.1332+1G>T rs779043705
NM_001127178.3(PIGG):c.1332+5A>G rs2108942421
NM_001127178.3(PIGG):c.1333-11C>T
NM_001127178.3(PIGG):c.1333-16T>C rs1268674775
NM_001127178.3(PIGG):c.1333-1G>A
NM_001127178.3(PIGG):c.1333-7G>C
NM_001127178.3(PIGG):c.1333-7_1333-6del
NM_001127178.3(PIGG):c.1342C>T (p.Leu448=) rs1725931618
NM_001127178.3(PIGG):c.1347C>T (p.Leu449=)
NM_001127178.3(PIGG):c.135A>C (p.Pro45=) rs1553874215
NM_001127178.3(PIGG):c.1364A>T (p.Gln455Leu) rs1390150253
NM_001127178.3(PIGG):c.1365G>A (p.Gln455=)
NM_001127178.3(PIGG):c.1373G>C (p.Arg458Pro) rs13115344
NM_001127178.3(PIGG):c.1375A>G (p.Arg459Gly)
NM_001127178.3(PIGG):c.1378A>C (p.Lys460Gln)
NM_001127178.3(PIGG):c.1386G>A (p.Glu462=)
NM_001127178.3(PIGG):c.138G>A (p.Ala46=) rs782100682
NM_001127178.3(PIGG):c.1403C>T (p.Ser468Leu) rs2108947315
NM_001127178.3(PIGG):c.1408C>T (p.Pro470Ser) rs2108947384
NM_001127178.3(PIGG):c.1413G>T (p.Gly471=)
NM_001127178.3(PIGG):c.1428T>C (p.Phe476=) rs766083746
NM_001127178.3(PIGG):c.1431T>C (p.Tyr477=) rs376095352
NM_001127178.3(PIGG):c.1437G>A (p.Val479=)
NM_001127178.3(PIGG):c.1443G>C (p.Leu481=)
NM_001127178.3(PIGG):c.1449T>C (p.Leu483=)
NM_001127178.3(PIGG):c.1455C>A (p.Ala485=) rs780294885
NM_001127178.3(PIGG):c.1455C>T (p.Ala485=)
NM_001127178.3(PIGG):c.1457T>C (p.Val486Ala) rs2108948014
NM_001127178.3(PIGG):c.1465A>G (p.Ile489Val)
NM_001127178.3(PIGG):c.1470G>A (p.Val490=)
NM_001127178.3(PIGG):c.147C>G (p.Pro49=)
NM_001127178.3(PIGG):c.1489dup (p.Ser497fs) rs1577094794
NM_001127178.3(PIGG):c.1490C>T (p.Ser497Leu) rs755547556
NM_001127178.3(PIGG):c.1491G>A (p.Ser497=) rs748881412
NM_001127178.3(PIGG):c.14C>A (p.Ser5Tyr) rs2108736193
NM_001127178.3(PIGG):c.1502G>C (p.Cys501Ser) rs1560334514
NM_001127178.3(PIGG):c.151G>T (p.Ala51Ser)
NM_001127178.3(PIGG):c.1528G>A (p.Gly510Arg) rs1560334774
NM_001127178.3(PIGG):c.1530G>A (p.Gly510=)
NM_001127178.3(PIGG):c.1533_1534delinsTT (p.Met512Leu) rs2108949014
NM_001127178.3(PIGG):c.154+11dup rs782776784
NM_001127178.3(PIGG):c.154+13C>G
NM_001127178.3(PIGG):c.154+13C>T
NM_001127178.3(PIGG):c.154+16C>A
NM_001127178.3(PIGG):c.154+16C>T
NM_001127178.3(PIGG):c.154+18G>A rs1716753285
NM_001127178.3(PIGG):c.154+20G>C rs370898043
NM_001127178.3(PIGG):c.154+2T>C
NM_001127178.3(PIGG):c.154+6G>C rs1716739603
NM_001127178.3(PIGG):c.1543G>A (p.Ala515Thr) rs749179747
NM_001127178.3(PIGG):c.1544_1545del (p.Ala515fs) rs2108949204
NM_001127178.3(PIGG):c.155-16T>C rs2108746700
NM_001127178.3(PIGG):c.155-19T>A
NM_001127178.3(PIGG):c.155-6A>G rs1576990758
NM_001127178.3(PIGG):c.155-7C>A
NM_001127178.3(PIGG):c.155-7C>T
NM_001127178.3(PIGG):c.155-9_155-6del
NM_001127178.3(PIGG):c.1562_1563del (p.Val521fs)
NM_001127178.3(PIGG):c.1563G>A (p.Val521=)
NM_001127178.3(PIGG):c.1573G>C (p.Val525Leu) rs1726031358
NM_001127178.3(PIGG):c.1580C>T (p.Thr527Ile) rs763389573
NM_001127178.3(PIGG):c.1584C>T (p.Asn528=)
NM_001127178.3(PIGG):c.1603dup (p.Thr535fs)
NM_001127178.3(PIGG):c.1605C>G (p.Thr535=) rs2108950258
NM_001127178.3(PIGG):c.1607C>T (p.Pro536Leu) rs2108950276
NM_001127178.3(PIGG):c.1614+4C>T
NM_001127178.3(PIGG):c.1614+9G>A rs188737876
NM_001127178.3(PIGG):c.1614+9G>C rs188737876
NM_001127178.3(PIGG):c.1615-10C>G
NM_001127178.3(PIGG):c.1615-11C>A rs549072538
NM_001127178.3(PIGG):c.1615-13_1615-12del
NM_001127178.3(PIGG):c.1615-20G>C rs2108964616
NM_001127178.3(PIGG):c.1618C>A (p.Pro540Thr) rs768849981
NM_001127178.3(PIGG):c.1619C>A (p.Pro540His)
NM_001127178.3(PIGG):c.1626T>C (p.His542=) rs1056393067
NM_001127178.3(PIGG):c.1629C>T (p.Pro543=)
NM_001127178.3(PIGG):c.1632C>A (p.Ser544Arg) rs2108965084
NM_001127178.3(PIGG):c.1633T>C (p.Ser545Pro) rs1577104001
NM_001127178.3(PIGG):c.1640G>T (p.Trp547Leu) rs547951371
NM_001127178.3(PIGG):c.1641G>A (p.Trp547Ter)
NM_001127178.3(PIGG):c.164C>A (p.Ser55Tyr) rs34120878
NM_001127178.3(PIGG):c.164C>G (p.Ser55Cys) rs34120878
NM_001127178.3(PIGG):c.1654CTT[1] (p.Leu553del) rs774246524
NM_001127178.3(PIGG):c.1663C>T (p.Leu555=)
NM_001127178.3(PIGG):c.1666T>A (p.Leu556Met)
NM_001127178.3(PIGG):c.1684G>A (p.Val562Ile)
NM_001127178.3(PIGG):c.1684G>T (p.Val562Phe) rs747534317
NM_001127178.3(PIGG):c.1686C>T (p.Val562=)
NM_001127178.3(PIGG):c.1689G>A (p.Leu563=)
NM_001127178.3(PIGG):c.1692C>T (p.Ser564=)
NM_001127178.3(PIGG):c.1694T>C (p.Leu565Pro)
NM_001127178.3(PIGG):c.1695G>C (p.Leu565=) rs2108965831
NM_001127178.3(PIGG):c.1702dup (p.Ser568fs)
NM_001127178.3(PIGG):c.1704C>T (p.Ser568=) rs1726665430
NM_001127178.3(PIGG):c.1706G>C (p.Ser569Thr)
NM_001127178.3(PIGG):c.1711G>A (p.Val571Met) rs770091281
NM_001127178.3(PIGG):c.1733_1734del (p.Trp578fs) rs2108966214
NM_001127178.3(PIGG):c.1736A>C (p.Tyr579Ser) rs2108966234
NM_001127178.3(PIGG):c.1736_1758del (p.Tyr579fs)
NM_001127178.3(PIGG):c.1740C>G (p.Phe580Leu) rs1361645394
NM_001127178.3(PIGG):c.1740_1743del (p.Phe580fs) rs1726676630
NM_001127178.3(PIGG):c.1752C>G (p.Thr584=)
NM_001127178.3(PIGG):c.1753C>G (p.Leu585Val)
NM_001127178.3(PIGG):c.1753C>T (p.Leu585=)
NM_001127178.3(PIGG):c.1754_1755insTGT (p.Leu585_Cys586insVal)
NM_001127178.3(PIGG):c.1773A>C (p.Gln591His)
NM_001127178.3(PIGG):c.1773A>G (p.Gln591=)
NM_001127178.3(PIGG):c.177G>A (p.Thr59=)
NM_001127178.3(PIGG):c.1782C>T (p.Tyr594=)
NM_001127178.3(PIGG):c.178C>G (p.Leu60Val)
NM_001127178.3(PIGG):c.178C>T (p.Leu60=)
NM_001127178.3(PIGG):c.1797G>A (p.Leu599=) rs2108966785
NM_001127178.3(PIGG):c.17G>A (p.Gly6Glu)
NM_001127178.3(PIGG):c.1800A>G (p.Gly600=) rs2108966802
NM_001127178.3(PIGG):c.1803T>C (p.Asp601=)
NM_001127178.3(PIGG):c.1811_1812del (p.Glu604fs)
NM_001127178.3(PIGG):c.1818G>C (p.Pro606=) rs748286066
NM_001127178.3(PIGG):c.1824_1834del (p.Leu609fs)
NM_001127178.3(PIGG):c.1827C>G (p.Leu609=) rs2108967070
NM_001127178.3(PIGG):c.1833G>A (p.Val611=)
NM_001127178.3(PIGG):c.184C>T (p.Pro62Ser) rs528446220
NM_001127178.3(PIGG):c.1857A>G (p.Thr619=)
NM_001127178.3(PIGG):c.1858G>C (p.Ala620Pro) rs1726727453
NM_001127178.3(PIGG):c.1872C>T (p.Asp624=)
NM_001127178.3(PIGG):c.1876C>T (p.Pro626Ser) rs1726732803
NM_001127178.3(PIGG):c.1887T>C (p.Asp629=) rs753253439
NM_001127178.3(PIGG):c.1897C>T (p.Arg633Ter)
NM_001127178.3(PIGG):c.1900G>A (p.Asp634Asn) rs145542247
NM_001127178.3(PIGG):c.1902C>A (p.Asp634Glu)
NM_001127178.3(PIGG):c.190C>T (p.Leu64Phe)
NM_001127178.3(PIGG):c.191T>A (p.Leu64His)
NM_001127178.3(PIGG):c.1920C>G (p.Pro640=)
NM_001127178.3(PIGG):c.1923dup (p.Thr642fs) rs2108968160
NM_001127178.3(PIGG):c.1926C>A (p.Thr642=) rs919506470
NM_001127178.3(PIGG):c.1926C>G (p.Thr642=) rs919506470
NM_001127178.3(PIGG):c.1929C>T (p.Ser643=) rs1205921842
NM_001127178.3(PIGG):c.192C>T (p.Leu64=)
NM_001127178.3(PIGG):c.1932A>G (p.Glu644=)
NM_001127178.3(PIGG):c.1933G>A (p.Val645Met)
NM_001127178.3(PIGG):c.1933G>T (p.Val645Leu) rs142545574
NM_001127178.3(PIGG):c.1936C>T (p.Leu646Phe) rs1726759465
NM_001127178.3(PIGG):c.1938C>T (p.Leu646=) rs772966387
NM_001127178.3(PIGG):c.1947C>T (p.Arg649=)
NM_001127178.3(PIGG):c.1950G>A (p.Glu650=) rs1290248636
NM_001127178.3(PIGG):c.1974G>A (p.Pro658=)
NM_001127178.3(PIGG):c.1996C>T (p.Arg666Trp)
NM_001127178.3(PIGG):c.1997G>T (p.Arg666Leu) rs1162996177
NM_001127178.3(PIGG):c.2004G>A (p.Leu668=)
NM_001127178.3(PIGG):c.2011C>T (p.Leu671=)
NM_001127178.3(PIGG):c.2019G>C (p.Gln673His) rs1205397074
NM_001127178.3(PIGG):c.2052C>T (p.Leu684=)
NM_001127178.3(PIGG):c.2054G>A (p.Gly685Asp)
NM_001127178.3(PIGG):c.2069+16C>G
NM_001127178.3(PIGG):c.2069+17G>A
NM_001127178.3(PIGG):c.2069+1G>C rs2108969826
NM_001127178.3(PIGG):c.2069+2T>G
NM_001127178.3(PIGG):c.2069+8C>G rs750645445
NM_001127178.3(PIGG):c.2069+8C>T rs750645445
NM_001127178.3(PIGG):c.2069+9G>A rs149305291
NM_001127178.3(PIGG):c.2069+9G>T rs149305291
NM_001127178.3(PIGG):c.2070-10C>G
NM_001127178.3(PIGG):c.2070-14C>G rs2108994586
NM_001127178.3(PIGG):c.2070-20C>T
NM_001127178.3(PIGG):c.2070C>T (p.Ser690=)
NM_001127178.3(PIGG):c.2075A>G (p.Asp692Gly) rs1727829781
NM_001127178.3(PIGG):c.2078_2098dup (p.Val699_Leu700insHisLysAlaGluLeuSerVal)
NM_001127178.3(PIGG):c.2088G>C (p.Glu696Asp) rs1203666288
NM_001127178.3(PIGG):c.2091C>T (p.Leu697=) rs752686273
NM_001127178.3(PIGG):c.2093C>G (p.Ser698Cys)
NM_001127178.3(PIGG):c.2093C>T (p.Ser698Phe)
NM_001127178.3(PIGG):c.2094T>C (p.Ser698=) rs2108994868
NM_001127178.3(PIGG):c.2103T>A (p.Ala701=)
NM_001127178.3(PIGG):c.2113C>G (p.Leu705Val)
NM_001127178.3(PIGG):c.211G>A (p.Val71Ile) rs1717246275
NM_001127178.3(PIGG):c.2123T>G (p.Val708Gly) rs2108995068
NM_001127178.3(PIGG):c.2129_2130del (p.Val710fs)
NM_001127178.3(PIGG):c.2131C>G (p.Leu711Val) rs1727844860
NM_001127178.3(PIGG):c.2139G>A (p.Gln713=) rs2108995151
NM_001127178.3(PIGG):c.2140A>G (p.Arg714Gly) rs745497751
NM_001127178.3(PIGG):c.2142G>T (p.Arg714Ser) rs769065983
NM_001127178.3(PIGG):c.2148C>T (p.Cys716=) rs2108995247
NM_001127178.3(PIGG):c.214C>G (p.Leu72Val) rs113634981
NM_001127178.3(PIGG):c.2150C>T (p.Ser717Phe)
NM_001127178.3(PIGG):c.2157G>C (p.Val719=)
NM_001127178.3(PIGG):c.2174C>G (p.Ala725Gly) rs1471613469
NM_001127178.3(PIGG):c.2174C>T (p.Ala725Val) rs1471613469
NM_001127178.3(PIGG):c.2195A>G (p.Tyr732Cys) rs2108995670
NM_001127178.3(PIGG):c.2196C>T (p.Tyr732=)
NM_001127178.3(PIGG):c.2199C>T (p.Cys733=)
NM_001127178.3(PIGG):c.2202C>T (p.Tyr734=)
NM_001127178.3(PIGG):c.2205GGC[1] (p.Ala737del)
NM_001127178.3(PIGG):c.2208G>A (p.Ala736=)
NM_001127178.3(PIGG):c.2209del (p.Ala737fs) rs2108995799
NM_001127178.3(PIGG):c.2214C>T (p.Ile738=) rs142756716
NM_001127178.3(PIGG):c.2217G>C (p.Gly739=)
NM_001127178.3(PIGG):c.221A>G (p.Asp74Gly)
NM_001127178.3(PIGG):c.2222T>C (p.Val741Ala)
NM_001127178.3(PIGG):c.2236C>G (p.Arg746Gly) rs1368574950
NM_001127178.3(PIGG):c.2240C>T (p.Pro747Leu) rs1329504961
NM_001127178.3(PIGG):c.2244dup (p.Ser749fs)
NM_001127178.3(PIGG):c.2248A>C (p.Lys750Gln) rs1560356446
NM_001127178.3(PIGG):c.2248_2250del (p.Lys750del) rs2108996176
NM_001127178.3(PIGG):c.225C>T (p.Ala75=)
NM_001127178.3(PIGG):c.2261+13C>A rs760444554
NM_001127178.3(PIGG):c.2261+16A>G rs1185179766
NM_001127178.3(PIGG):c.2261+1G>C rs869320773
NM_001127178.3(PIGG):c.2261+20G>A
NM_001127178.3(PIGG):c.2261+7G>A
NM_001127178.3(PIGG):c.2262-14T>A
NM_001127178.3(PIGG):c.2262-17_2262-15del rs2109013844
NM_001127178.3(PIGG):c.2262-3T>C
NM_001127178.3(PIGG):c.2262-7T>C rs2109013960
NM_001127178.3(PIGG):c.2262-9_2262-7del
NM_001127178.3(PIGG):c.2263G>A (p.Gly755Ser)
NM_001127178.3(PIGG):c.2266ATT[1] (p.Ile757del) rs769896861
NM_001127178.3(PIGG):c.2276C>T (p.Ala759Val) rs2109014084
NM_001127178.3(PIGG):c.2288_2289del (p.Tyr763fs) rs1728769445
NM_001127178.3(PIGG):c.228G>T (p.Leu76Phe) rs782727523
NM_001127178.3(PIGG):c.2294_2295del (p.Phe765fs)
NM_001127178.3(PIGG):c.2305A>T (p.Ile769Phe)
NM_001127178.3(PIGG):c.2310G>C (p.Leu770=) rs1577135305
NM_001127178.3(PIGG):c.2315C>T (p.Thr772Met)
NM_001127178.3(PIGG):c.2319C>T (p.Gly773=)
NM_001127178.3(PIGG):c.2328C>G (p.Asp776Glu)
NM_001127178.3(PIGG):c.2330T>G (p.Leu777Ter)
NM_001127178.3(PIGG):c.2332C>T (p.Leu778Phe) rs2109014450
NM_001127178.3(PIGG):c.2332del (p.Lys779fs)
NM_001127178.3(PIGG):c.2334del (p.Lys779fs)
NM_001127178.3(PIGG):c.2343A>G (p.Gln781=)
NM_001127178.3(PIGG):c.2346C>G (p.Val782=)
NM_001127178.3(PIGG):c.2348_2350dup (p.Ile783_Ala784insVal)
NM_001127178.3(PIGG):c.2349T>C (p.Ile783=)
NM_001127178.3(PIGG):c.2356G>T (p.Asp786Tyr)
NM_001127178.3(PIGG):c.2361C>A (p.Phe787Leu) rs1486646970
NM_001127178.3(PIGG):c.2363A>G (p.Lys788Arg)
NM_001127178.3(PIGG):c.2367C>G (p.Leu789=)
NM_001127178.3(PIGG):c.2370G>A (p.Lys790=)
NM_001127178.3(PIGG):c.2377G>C (p.Gly793Arg)
NM_001127178.3(PIGG):c.2397T>G (p.Ser799Arg)
NM_001127178.3(PIGG):c.2413G>T (p.Ala805Ser) rs1577135737
NM_001127178.3(PIGG):c.2415A>G (p.Ala805=)
NM_001127178.3(PIGG):c.2418C>T (p.Ala806=)
NM_001127178.3(PIGG):c.2423T>C (p.Leu808Pro)
NM_001127178.3(PIGG):c.2432C>T (p.Pro811Leu)
NM_001127178.3(PIGG):c.2444del (p.Pro815fs)
NM_001127178.3(PIGG):c.2445G>A (p.Pro815=)
NM_001127178.3(PIGG):c.2445G>T (p.Pro815=) rs202141322
NM_001127178.3(PIGG):c.2448C>T (p.Val816=)
NM_001127178.3(PIGG):c.244T>C (p.Phe82Leu) rs551114887
NM_001127178.3(PIGG):c.2452G>C (p.Ala818Pro)
NM_001127178.3(PIGG):c.2454A>G (p.Ala818=) rs2109015040
NM_001127178.3(PIGG):c.2475T>C (p.Thr825=) rs2109015111
NM_001127178.3(PIGG):c.2484T>A (p.Thr828=)
NM_001127178.3(PIGG):c.2493C>G (p.Ile831Met)
NM_001127178.3(PIGG):c.2511C>T (p.His837=)
NM_001127178.3(PIGG):c.2529T>C (p.Thr843=)
NM_001127178.3(PIGG):c.2535G>A (p.Met845Ile) rs1373017326
NM_001127178.3(PIGG):c.2540A>G (p.Tyr847Cys) rs1728841934
NM_001127178.3(PIGG):c.2548G>A (p.Gly850Ser)
NM_001127178.3(PIGG):c.256G>A (p.Gly86Ser)
NM_001127178.3(PIGG):c.256G>T (p.Gly86Cys)
NM_001127178.3(PIGG):c.2571+16_2571+18del
NM_001127178.3(PIGG):c.2571+19C>T
NM_001127178.3(PIGG):c.2571+20A>G
NM_001127178.3(PIGG):c.2571+4G>C rs2109015694
NM_001127178.3(PIGG):c.2571+5G>A rs1728851870
NM_001127178.3(PIGG):c.2571G>A (p.Gln857=) rs2109015681
NM_001127178.3(PIGG):c.2572-12C>T
NM_001127178.3(PIGG):c.2572-12_2572-10del rs759400985
NM_001127178.3(PIGG):c.2572-17C>G rs1279682903
NM_001127178.3(PIGG):c.2572-20G>A
NM_001127178.3(PIGG):c.2572-20G>T
NM_001127178.3(PIGG):c.2572-3C>T
NM_001127178.3(PIGG):c.2572-7A>T rs2109033301
NM_001127178.3(PIGG):c.2573G>A (p.Gly858Asp)
NM_001127178.3(PIGG):c.2574C>T (p.Gly858=)
NM_001127178.3(PIGG):c.2575A>G (p.Asn859Asp) rs1729680182
NM_001127178.3(PIGG):c.2576A>C (p.Asn859Thr) rs745840866
NM_001127178.3(PIGG):c.2576A>G (p.Asn859Ser) rs745840866
NM_001127178.3(PIGG):c.257G>C (p.Gly86Ala)
NM_001127178.3(PIGG):c.2585A>G (p.Asn862Ser) rs1480114110
NM_001127178.3(PIGG):c.2586C>T (p.Asn862=)
NM_001127178.3(PIGG):c.2595C>T (p.Thr865=) rs1729687600
NM_001127178.3(PIGG):c.2613C>T (p.Gly871=)
NM_001127178.3(PIGG):c.2616C>A (p.Phe872Leu)
NM_001127178.3(PIGG):c.2616C>T (p.Phe872=) rs764023905
NM_001127178.3(PIGG):c.2624_2625del (p.Gly874_Leu875insTer) rs771819481
NM_001127178.3(PIGG):c.2627A>T (p.Asp876Val) rs2109033908
NM_001127178.3(PIGG):c.2628C>T (p.Asp876=)
NM_001127178.3(PIGG):c.2633A>G (p.Tyr878Cys)
NM_001127178.3(PIGG):c.263A>T (p.Lys88Ile)
NM_001127178.3(PIGG):c.2644C>G (p.Pro882Ala)
NM_001127178.3(PIGG):c.2646A>G (p.Pro882=) rs1425182590
NM_001127178.3(PIGG):c.2657T>C (p.Leu886Pro) rs2109034166
NM_001127178.3(PIGG):c.2660C>T (p.Thr887Ile) rs769618986
NM_001127178.3(PIGG):c.2663C>A (p.Ala888Glu) rs571763092
NM_001127178.3(PIGG):c.2664G>A (p.Ala888=)
NM_001127178.3(PIGG):c.2670G>A (p.Gly890=) rs1359225962
NM_001127178.3(PIGG):c.2672C>A (p.Thr891Lys) rs761022630
NM_001127178.3(PIGG):c.2673G>A (p.Thr891=) rs115590778
NM_001127178.3(PIGG):c.2676C>T (p.Tyr892=)
NM_001127178.3(PIGG):c.2677G>A (p.Ala893Thr)
NM_001127178.3(PIGG):c.2679A>G (p.Ala893=) rs943899243
NM_001127178.3(PIGG):c.2682G>T (p.Gly894=)
NM_001127178.3(PIGG):c.2691G>T (p.Leu897=)
NM_001127178.3(PIGG):c.2703C>T (p.His901=)
NM_001127178.3(PIGG):c.2710C>T (p.His904Tyr) rs1401973942
NM_001127178.3(PIGG):c.2715C>T (p.Phe905=) rs1729729369
NM_001127178.3(PIGG):c.2723C>G (p.Ser908Ter) rs1729731097
NM_001127178.3(PIGG):c.2730A>G (p.Thr910=)
NM_001127178.3(PIGG):c.2735+11T>C
NM_001127178.3(PIGG):c.2735+8G>A
NM_001127178.3(PIGG):c.2735+9C>T
NM_001127178.3(PIGG):c.2736-12_2736-9del rs760567369
NM_001127178.3(PIGG):c.2736-14T>C
NM_001127178.3(PIGG):c.2736-2A>G
NM_001127178.3(PIGG):c.2738G>T (p.Gly913Val)
NM_001127178.3(PIGG):c.2748G>C (p.Leu916=) rs769891393
NM_001127178.3(PIGG):c.2750G>C (p.Ser917Thr)
NM_001127178.3(PIGG):c.2760del (p.Phe921fs)
NM_001127178.3(PIGG):c.2766C>G (p.Cys922Trp)
NM_001127178.3(PIGG):c.2767T>C (p.Tyr923His) rs2109073250
NM_001127178.3(PIGG):c.2771C>T (p.Ala924Val) rs1363023259
NM_001127178.3(PIGG):c.2778_2782del (p.Cys927fs)
NM_001127178.3(PIGG):c.2780G>A (p.Cys927Tyr) rs774627627
NM_001127178.3(PIGG):c.2780G>C (p.Cys927Ser) rs774627627
NM_001127178.3(PIGG):c.2791G>A (p.Val931Ile)
NM_001127178.3(PIGG):c.2793T>C (p.Val931=)
NM_001127178.3(PIGG):c.2797A>G (p.Thr933Ala) rs2109073463
NM_001127178.3(PIGG):c.2801A>G (p.Tyr934Cys) rs999292149
NM_001127178.3(PIGG):c.2818T>C (p.Ser940Pro) rs1553903178
NM_001127178.3(PIGG):c.2821C>G (p.Leu941Val)
NM_001127178.3(PIGG):c.2823G>C (p.Leu941=)
NM_001127178.3(PIGG):c.2831A>G (p.His944Arg)
NM_001127178.3(PIGG):c.2834T>C (p.Leu945Ser) rs1731498967
NM_001127178.3(PIGG):c.2841A>T (p.Ile947=)
NM_001127178.3(PIGG):c.2843G>A (p.Trp948Ter)
NM_001127178.3(PIGG):c.2850A>G (p.Val950=)
NM_001127178.3(PIGG):c.2861A>C (p.Lys954Thr)
NM_001127178.3(PIGG):c.2866C>T (p.Leu956Phe) rs1245132642
NM_001127178.3(PIGG):c.286C>G (p.Leu96Val)
NM_001127178.3(PIGG):c.2874G>C (p.Glu958Asp) rs760527742
NM_001127178.3(PIGG):c.2880G>A (p.Met960Ile) rs1320342687
NM_001127178.3(PIGG):c.2880_2881delinsAT (p.Met960_His961delinsIleTyr)
NM_001127178.3(PIGG):c.2890A>G (p.Ile964Val)
NM_001127178.3(PIGG):c.2897C>A (p.Ala966Asp)
NM_001127178.3(PIGG):c.2899G>A (p.Ala967Thr)
NM_001127178.3(PIGG):c.2919G>A (p.Thr973=) rs372154748
NM_001127178.3(PIGG):c.2923A>G (p.Met975Val) rs566081568
NM_001127178.3(PIGG):c.2925G>A (p.Met975Ile) rs1731527446
NM_001127178.3(PIGG):c.292G>A (p.Glu98Lys)
NM_001127178.3(PIGG):c.29C>A (p.Thr10Asn)
NM_001127178.3(PIGG):c.302C>G (p.Ala101Gly) rs1717288126
NM_001127178.3(PIGG):c.309_310del (p.His103fs) rs1553875180
NM_001127178.3(PIGG):c.30C>T (p.Thr10=)
NM_001127178.3(PIGG):c.315T>C (p.Phe105=) rs2108748198
NM_001127178.3(PIGG):c.318G>A (p.Val106=)
NM_001127178.3(PIGG):c.321T>C (p.Ala107=)
NM_001127178.3(PIGG):c.33T>C (p.Cys11=)
NM_001127178.3(PIGG):c.341T>G (p.Val114Gly)
NM_001127178.3(PIGG):c.342T>C (p.Val114=) rs2108748464
NM_001127178.3(PIGG):c.342dup (p.Thr115fs) rs886041687
NM_001127178.3(PIGG):c.351T>C (p.Pro117=)
NM_001127178.3(PIGG):c.358A>G (p.Lys120Glu)
NM_001127178.3(PIGG):c.35G>A (p.Cys12Tyr)
NM_001127178.3(PIGG):c.35G>C (p.Cys12Ser) rs1289974701
NM_001127178.3(PIGG):c.360+8T>A
NM_001127178.3(PIGG):c.361-8G>A
NM_001127178.3(PIGG):c.361-8G>C
NM_001127178.3(PIGG):c.366_381del (p.Leu122fs) rs1719440437
NM_001127178.3(PIGG):c.36C>T (p.Cys12=)
NM_001127178.3(PIGG):c.371C>A (p.Thr124Lys) rs370385328
NM_001127178.3(PIGG):c.371C>G (p.Thr124Arg) rs370385328
NM_001127178.3(PIGG):c.371C>T (p.Thr124Met) rs370385328
NM_001127178.3(PIGG):c.393C>G (p.Val131=) rs145420533
NM_001127178.3(PIGG):c.39A>G (p.Val13=)
NM_001127178.3(PIGG):c.405G>A (p.Arg135=) rs782043045
NM_001127178.3(PIGG):c.405G>T (p.Arg135Ser) rs782043045
NM_001127178.3(PIGG):c.408C>G (p.Asn136Lys)
NM_001127178.3(PIGG):c.411C>T (p.Leu137=)
NM_001127178.3(PIGG):c.413A>G (p.Asn138Ser)
NM_001127178.3(PIGG):c.423A>G (p.Ala141=)
NM_001127178.3(PIGG):c.429G>A (p.Leu143=) rs782338957
NM_001127178.3(PIGG):c.42G>T (p.Ala14=) rs1323767476
NM_001127178.3(PIGG):c.460G>A (p.Ala154Thr) rs1719479054
NM_001127178.3(PIGG):c.47A>C (p.Glu16Ala)
NM_001127178.3(PIGG):c.489T>C (p.Asp163=)
NM_001127178.3(PIGG):c.4C>A (p.Arg2=) rs1207825909
NM_001127178.3(PIGG):c.510C>T (p.Phe170=)
NM_001127178.3(PIGG):c.518A>G (p.His173Arg) rs1290208512
NM_001127178.3(PIGG):c.532G>A (p.Asp178Asn) rs1553878870
NM_001127178.3(PIGG):c.534T>C (p.Asp178=)
NM_001127178.3(PIGG):c.553G>A (p.Val185Met) rs782554486
NM_001127178.3(PIGG):c.553G>T (p.Val185Leu)
NM_001127178.3(PIGG):c.565A>C (p.Thr189Pro) rs1719512243
NM_001127178.3(PIGG):c.570+11A>C
NM_001127178.3(PIGG):c.570+16A>T rs2108789698
NM_001127178.3(PIGG):c.570+1G>A rs1719513784
NM_001127178.3(PIGG):c.570+5G>A rs2108789615
NM_001127178.3(PIGG):c.571-17G>A
NM_001127178.3(PIGG):c.571-19GT[2]
NM_001127178.3(PIGG):c.571-4A>C rs2108800983
NM_001127178.3(PIGG):c.571del rs1553880098
NM_001127178.3(PIGG):c.58A>G (p.Ile20Val) rs1716673781
NM_001127178.3(PIGG):c.590G>A (p.Arg197Lys)
NM_001127178.3(PIGG):c.610A>G (p.Lys204Glu)
NM_001127178.3(PIGG):c.623G>A (p.Trp208Ter) rs1720118439
NM_001127178.3(PIGG):c.636C>T (p.Ile212=)
NM_001127178.3(PIGG):c.641A>G (p.His214Arg)
NM_001127178.3(PIGG):c.653T>C (p.Leu218Pro)
NM_001127178.3(PIGG):c.66C>T (p.Val22=) rs2108736952
NM_001127178.3(PIGG):c.670A>G (p.Ile224Val)
NM_001127178.3(PIGG):c.678G>A (p.Gly226=) rs748676621
NM_001127178.3(PIGG):c.678G>T (p.Gly226=) rs748676621
NM_001127178.3(PIGG):c.680C>T (p.Pro227Leu)
NM_001127178.3(PIGG):c.681C>T (p.Pro227=)
NM_001127178.3(PIGG):c.683A>G (p.Asn228Ser) rs1553880271
NM_001127178.3(PIGG):c.690C>T (p.Pro230=)
NM_001127178.3(PIGG):c.691C>T (p.Leu231=)
NM_001127178.3(PIGG):c.708G>A (p.Leu236=)
NM_001127178.3(PIGG):c.711C>T (p.Ser237=)
NM_001127178.3(PIGG):c.715A>T (p.Met239Leu)
NM_001127178.3(PIGG):c.735G>T (p.Lys245Asn) rs1720175322
NM_001127178.3(PIGG):c.738C>G (p.Ile246Met)
NM_001127178.3(PIGG):c.747A>G (p.Ser249=)
NM_001127178.3(PIGG):c.748C>A (p.Leu250Met) rs2108802312
NM_001127178.3(PIGG):c.751C>G (p.Gln251Glu) rs782797418
NM_001127178.3(PIGG):c.759+11C>T
NM_001127178.3(PIGG):c.759+12C>T
NM_001127178.3(PIGG):c.759+13G>A rs201035016
NM_001127178.3(PIGG):c.759+13G>T rs201035016
NM_001127178.3(PIGG):c.759+15C>T
NM_001127178.3(PIGG):c.759+16G>T
NM_001127178.3(PIGG):c.759+2T>C rs1720189292
NM_001127178.3(PIGG):c.759+7C>T
NM_001127178.3(PIGG):c.759+9C>T rs1553880496
NM_001127178.3(PIGG):c.760-13C>G
NM_001127178.3(PIGG):c.760-15T>C
NM_001127178.3(PIGG):c.760-2A>G
NM_001127178.3(PIGG):c.760-4A>C rs782480970
NM_001127178.3(PIGG):c.760-8C>T
NM_001127178.3(PIGG):c.766G>T (p.Glu256Ter)
NM_001127178.3(PIGG):c.768_769del (p.Glu256fs)
NM_001127178.3(PIGG):c.768_769dup (p.Thr257fs) rs1229339759
NM_001127178.3(PIGG):c.774T>C (p.Pro258=)
NM_001127178.3(PIGG):c.779C>A (p.Pro260His)
NM_001127178.3(PIGG):c.784T>C (p.Leu262=)
NM_001127178.3(PIGG):c.785del (p.Leu262fs) rs2108814954
NM_001127178.3(PIGG):c.786G>T (p.Leu262Phe) rs2108814975
NM_001127178.3(PIGG):c.787C>T (p.Leu263=) rs781921375
NM_001127178.3(PIGG):c.797G>A (p.Cys266Tyr)
NM_001127178.3(PIGG):c.801del (p.Asp268fs)
NM_001127178.3(PIGG):c.813G>A (p.Met271Ile) rs2108815187
NM_001127178.3(PIGG):c.837C>G (p.Ala279=) rs2108815430
NM_001127178.3(PIGG):c.845C>G (p.Thr282Ser) rs781867858
NM_001127178.3(PIGG):c.846C>A (p.Thr282=) rs144638389
NM_001127178.3(PIGG):c.846C>T (p.Thr282=) rs144638389
NM_001127178.3(PIGG):c.84C>T (p.Phe28=)
NM_001127178.3(PIGG):c.861A>G (p.Thr287=)
NM_001127178.3(PIGG):c.87G>A (p.Pro29=)
NM_001127178.3(PIGG):c.884C>T (p.Ala295Val) rs1294170424
NM_001127178.3(PIGG):c.8T>G (p.Leu3Arg) rs1553873943
NM_001127178.3(PIGG):c.900C>T (p.Pro300=) rs1343365553
NM_001127178.3(PIGG):c.901+10T>G rs782012518
NM_001127178.3(PIGG):c.901+16T>C
NM_001127178.3(PIGG):c.901+18T>C
NM_001127178.3(PIGG):c.901+19T>C
NM_001127178.3(PIGG):c.901+1del rs782318668
NM_001127178.3(PIGG):c.902-14T>G
NM_001127178.3(PIGG):c.902-19A>G
NM_001127178.3(PIGG):c.902-5T>G
NM_001127178.3(PIGG):c.902-8_902-5del rs762801893
NM_001127178.3(PIGG):c.907A>G (p.Ile303Val)
NM_001127178.3(PIGG):c.908T>A (p.Ile303Asn) rs1459250449
NM_001127178.3(PIGG):c.918A>G (p.Pro306=)
NM_001127178.3(PIGG):c.924C>T (p.His308=)
NM_001127178.3(PIGG):c.927C>T (p.Val309=)
NM_001127178.3(PIGG):c.931C>T (p.Gln311Ter)
NM_001127178.3(PIGG):c.932A>G (p.Gln311Arg) rs1723704333
NM_001127178.3(PIGG):c.94G>T (p.Val32Phe) rs1366589970
NM_001127178.3(PIGG):c.951A>G (p.Thr317=)
NM_001127178.3(PIGG):c.974C>G (p.Pro325Arg) rs746660978
NM_001127178.3(PIGG):c.975G>A (p.Pro325=)
NM_001127178.3(PIGG):c.989G>A (p.Ser330Asn) rs1189967347
NM_001127178.3(PIGG):c.989G>T (p.Ser330Ile)
NM_001166114.2(PNPLA6):c.1005+13C>G
NM_001166114.2(PNPLA6):c.1005+14G>C
NM_001166114.2(PNPLA6):c.1005+15G>A rs2146055558
NM_001166114.2(PNPLA6):c.1005+17G>C rs2146055581
NM_001166114.2(PNPLA6):c.1005+1G>T rs772913881
NM_001166114.2(PNPLA6):c.1005+20C>A
NM_001166114.2(PNPLA6):c.1006-15G>A rs1224962546
NM_001166114.2(PNPLA6):c.1006-19A>G
NM_001166114.2(PNPLA6):c.1006-20A>T rs2146055827
NM_001166114.2(PNPLA6):c.1006-4C>G
NM_001166114.2(PNPLA6):c.1010T>A (p.Ile337Asn)
NM_001166114.2(PNPLA6):c.1016C>A (p.Pro339His)
NM_001166114.2(PNPLA6):c.1020G>T (p.Leu340=)
NM_001166114.2(PNPLA6):c.1022G>C (p.Arg341Pro) rs745677326
NM_001166114.2(PNPLA6):c.1022G>T (p.Arg341Leu) rs745677326
NM_001166114.2(PNPLA6):c.1030C>T (p.Pro344Ser) rs2146056016
NM_001166114.2(PNPLA6):c.1048A>C (p.Thr350Pro)
NM_001166114.2(PNPLA6):c.1049C>T (p.Thr350Ile)
NM_001166114.2(PNPLA6):c.1054A>C (p.Thr352Pro) rs751885710
NM_001166114.2(PNPLA6):c.1059C>T (p.Ser353=) rs374546823
NM_001166114.2(PNPLA6):c.1061C>G (p.Pro354Arg)
NM_001166114.2(PNPLA6):c.1104C>G (p.Asp368Glu) rs1490230776
NM_001166114.2(PNPLA6):c.1109C>A (p.Pro370His) rs200897068
NM_001166114.2(PNPLA6):c.1119C>T (p.Thr373=)
NM_001166114.2(PNPLA6):c.1122A>C (p.Pro374=)
NM_001166114.2(PNPLA6):c.1122A>T (p.Pro374=) rs964715857
NM_001166114.2(PNPLA6):c.1125G>C (p.Gly375=) rs1157365527
NM_001166114.2(PNPLA6):c.1126C>T (p.Arg376Trp) rs780122556
NM_001166114.2(PNPLA6):c.1129C>A (p.Pro377Thr)
NM_001166114.2(PNPLA6):c.1151C>T (p.Pro384Leu)
NM_001166114.2(PNPLA6):c.1152G>A (p.Pro384=)
NM_001166114.2(PNPLA6):c.1152G>C (p.Pro384=) rs538277794
NM_001166114.2(PNPLA6):c.1168+10G>A
NM_001166114.2(PNPLA6):c.1168+14C>G
NM_001166114.2(PNPLA6):c.1168+14C>T
NM_001166114.2(PNPLA6):c.1168+1G>C
NM_001166114.2(PNPLA6):c.1168+20C>A
NM_001166114.2(PNPLA6):c.1168+7A>C
NM_001166114.2(PNPLA6):c.1168+8G>A
NM_001166114.2(PNPLA6):c.1169-12T>G
NM_001166114.2(PNPLA6):c.1199C>A (p.Thr400Asn)
NM_001166114.2(PNPLA6):c.1201C>A (p.Pro401Thr)
NM_001166114.2(PNPLA6):c.1206G>A (p.Ser402=)
NM_001166114.2(PNPLA6):c.1211dup (p.Leu405fs) rs765307463
NM_001166114.2(PNPLA6):c.1229dup (p.Ser411fs) rs2146058319
NM_001166114.2(PNPLA6):c.1234A>C (p.Met412Leu)
NM_001166114.2(PNPLA6):c.1237C>T (p.Pro413Ser)
NM_001166114.2(PNPLA6):c.1246A>C (p.Ile416Leu)
NM_001166114.2(PNPLA6):c.1252+19G>T
NM_001166114.2(PNPLA6):c.1252+8G>A
NM_001166114.2(PNPLA6):c.1253-14del rs1318985494
NM_001166114.2(PNPLA6):c.1253-15C>T
NM_001166114.2(PNPLA6):c.1253-16C>T rs2146060047
NM_001166114.2(PNPLA6):c.1253-18C>T
NM_001166114.2(PNPLA6):c.1253-19C>G
NM_001166114.2(PNPLA6):c.1253-3C>A
NM_001166114.2(PNPLA6):c.1253-4G>T
NM_001166114.2(PNPLA6):c.1266C>A (p.Gly422=)
NM_001166114.2(PNPLA6):c.1268C>G (p.Pro423Arg) rs1245401993
NM_001166114.2(PNPLA6):c.1282G>A (p.Asp428Asn)
NM_001166114.2(PNPLA6):c.1290C>G (p.Ala430=)
NM_001166114.2(PNPLA6):c.1292A>G (p.Tyr431Cys) rs373050796
NM_001166114.2(PNPLA6):c.1298G>A (p.Arg433His)
NM_001166114.2(PNPLA6):c.129G>A (p.Val43=)
NM_001166114.2(PNPLA6):c.1302C>T (p.Gly434=)
NM_001166114.2(PNPLA6):c.130C>T (p.Pro44Ser) rs908461148
NM_001166114.2(PNPLA6):c.1311C>T (p.Ser437=)
NM_001166114.2(PNPLA6):c.1312G>T (p.Val438Leu) rs752915572
NM_001166114.2(PNPLA6):c.1321C>T (p.Gln441Ter) rs2023204790
NM_001166114.2(PNPLA6):c.132G>A (p.Pro44=)
NM_001166114.2(PNPLA6):c.1331C>A (p.Ala444Asp) rs1599277847
NM_001166114.2(PNPLA6):c.1335C>G (p.Ser445=)
NM_001166114.2(PNPLA6):c.1339G>A (p.Gly447Arg) rs373883256
NM_001166114.2(PNPLA6):c.1339G>T (p.Gly447Trp) rs373883256
NM_001166114.2(PNPLA6):c.1341G>A (p.Gly447=) rs775254099
NM_001166114.2(PNPLA6):c.1356C>T (p.Pro452=) rs776524852
NM_001166114.2(PNPLA6):c.1362+17T>A
NM_001166114.2(PNPLA6):c.1363-10C>T rs762897981
NM_001166114.2(PNPLA6):c.1363-13C>G
NM_001166114.2(PNPLA6):c.1363-14C>T
NM_001166114.2(PNPLA6):c.1363-7C>G rs767541631
NM_001166114.2(PNPLA6):c.1365C>A (p.Thr455=)
NM_001166114.2(PNPLA6):c.1366C>T (p.Pro456Ser)
NM_001166114.2(PNPLA6):c.1369A>G (p.Thr457Ala) rs2023214810
NM_001166114.2(PNPLA6):c.136G>T (p.Val46Phe)
NM_001166114.2(PNPLA6):c.1372C>T (p.Gln458Ter)
NM_001166114.2(PNPLA6):c.1379_1381del (p.Pro460del) rs762850838
NM_001166114.2(PNPLA6):c.138C>T (p.Val46=)
NM_001166114.2(PNPLA6):c.1401C>G (p.Ala467=)
NM_001166114.2(PNPLA6):c.140C>T (p.Pro47Leu)
NM_001166114.2(PNPLA6):c.1427A>G (p.Glu476Gly) rs1242705662
NM_001166114.2(PNPLA6):c.1428G>A (p.Glu476=)
NM_001166114.2(PNPLA6):c.1428G>C (p.Glu476Asp) rs1555745911
NM_001166114.2(PNPLA6):c.1429T>G (p.Ser477Ala) rs2023217607
NM_001166114.2(PNPLA6):c.1431G>A (p.Ser477=)
NM_001166114.2(PNPLA6):c.1438G>C (p.Gly480Arg) rs2146061174
NM_001166114.2(PNPLA6):c.1448C>T (p.Pro483Leu) rs937353646
NM_001166114.2(PNPLA6):c.1452C>T (p.Phe484=)
NM_001166114.2(PNPLA6):c.1463A>T (p.Gln488Leu) rs2023219350
NM_001166114.2(PNPLA6):c.1468C>T (p.Arg490Cys) rs1458269938
NM_001166114.2(PNPLA6):c.1481G>C (p.Ser494Thr)
NM_001166114.2(PNPLA6):c.1489G>C (p.Glu497Gln) rs372128647
NM_001166114.2(PNPLA6):c.1497A>G (p.Ala499=) rs2146061450
NM_001166114.2(PNPLA6):c.1522C>T (p.Arg508Trp) rs777484615
NM_001166114.2(PNPLA6):c.1524G>T (p.Arg508=) rs2146061516
NM_001166114.2(PNPLA6):c.1530+10C>T
NM_001166114.2(PNPLA6):c.1531-10_1537dup rs770365418
NM_001166114.2(PNPLA6):c.1531-17C>A
NM_001166114.2(PNPLA6):c.1531-17C>T rs199515082
NM_001166114.2(PNPLA6):c.1531-3C>T rs2023226974
NM_001166114.2(PNPLA6):c.1544T>C (p.Leu515Pro)
NM_001166114.2(PNPLA6):c.1545G>A (p.Leu515=) rs958794349
NM_001166114.2(PNPLA6):c.154G>A (p.Val52Met)
NM_001166114.2(PNPLA6):c.156G>T (p.Val52=)
NM_001166114.2(PNPLA6):c.1572C>T (p.Ala524=)
NM_001166114.2(PNPLA6):c.1581C>T (p.Gly527=)
NM_001166114.2(PNPLA6):c.1584C>T (p.Thr528=) rs2146062147
NM_001166114.2(PNPLA6):c.1585A>G (p.Ile529Val) rs756934322
NM_001166114.2(PNPLA6):c.1606C>T (p.Gln536Ter) rs1416173690
NM_001166114.2(PNPLA6):c.1608+11C>A rs368627125
NM_001166114.2(PNPLA6):c.1608+11C>T rs368627125
NM_001166114.2(PNPLA6):c.1608+13_1608+19del rs1456240555
NM_001166114.2(PNPLA6):c.1608+17_1608+18inv
NM_001166114.2(PNPLA6):c.1608+18C>G rs568133745
NM_001166114.2(PNPLA6):c.1608+2T>C rs2023231095
NM_001166114.2(PNPLA6):c.1608+3G>T
NM_001166114.2(PNPLA6):c.1608+5G>A
NM_001166114.2(PNPLA6):c.1609-13C>G
NM_001166114.2(PNPLA6):c.1609-14C>T rs1394275867
NM_001166114.2(PNPLA6):c.1609-4A>C rs2146086386
NM_001166114.2(PNPLA6):c.1614G>A (p.Val538=)
NM_001166114.2(PNPLA6):c.1632C>T (p.Leu544=)
NM_001166114.2(PNPLA6):c.1638C>T (p.Gly546=) rs2146086468
NM_001166114.2(PNPLA6):c.163_186dup (p.Gly55_Val62dup) rs753682780
NM_001166114.2(PNPLA6):c.166G>T (p.Ala56Ser)
NM_001166114.2(PNPLA6):c.1673C>A (p.Ala558Glu) rs1473620669
NM_001166114.2(PNPLA6):c.1678G>A (p.Asp560Asn) rs1568415448
NM_001166114.2(PNPLA6):c.1678G>T (p.Asp560Tyr)
NM_001166114.2(PNPLA6):c.1681G>A (p.Val561Met)
NM_001166114.2(PNPLA6):c.1684_1685del (p.Cys562fs) rs1395700335
NM_001166114.2(PNPLA6):c.1687C>T (p.Leu563=) rs2146086630
NM_001166114.2(PNPLA6):c.1692dup (p.Val565fs) rs2023573141
NM_001166114.2(PNPLA6):c.1693G>A (p.Val565Ile) rs777182371
NM_001166114.2(PNPLA6):c.1695A>T (p.Val565=)
NM_001166114.2(PNPLA6):c.169G>C (p.Gly57Arg) rs867376735
NM_001166114.2(PNPLA6):c.1702C>G (p.Pro568Ala) rs2023573612
NM_001166114.2(PNPLA6):c.1704C>T (p.Pro568=) rs62111288
NM_001166114.2(PNPLA6):c.1705G>A (p.Gly569Arg)
NM_001166114.2(PNPLA6):c.1720C>T (p.Gln574Ter)
NM_001166114.2(PNPLA6):c.1746_1748del (p.Leu583del)
NM_001166114.2(PNPLA6):c.1749C>T (p.Leu583=) rs2046990440
NM_001166114.2(PNPLA6):c.1751del (p.Ile584fs)
NM_001166114.2(PNPLA6):c.1770A>G (p.Gln590=) rs780340075
NM_001166114.2(PNPLA6):c.1773C>A (p.Arg591=) rs769077760
NM_001166114.2(PNPLA6):c.1773C>T (p.Arg591=) rs769077760
NM_001166114.2(PNPLA6):c.1803C>G (p.Ser601=)
NM_001166114.2(PNPLA6):c.1806C>T (p.Asp602=)
NM_001166114.2(PNPLA6):c.1814+12C>G
NM_001166114.2(PNPLA6):c.1814+13G>T
NM_001166114.2(PNPLA6):c.1814+9G>A rs780227432
NM_001166114.2(PNPLA6):c.1815-16A>C
NM_001166114.2(PNPLA6):c.1815-19C>T
NM_001166114.2(PNPLA6):c.1815-6C>A
NM_001166114.2(PNPLA6):c.1815-6del
NM_001166114.2(PNPLA6):c.1824C>T (p.Arg608=) rs759282932
NM_001166114.2(PNPLA6):c.1831C>T (p.Pro611Ser) rs775359901
NM_001166114.2(PNPLA6):c.1867G>A (p.Ala623Thr) rs2146087711
NM_001166114.2(PNPLA6):c.1879C>A (p.Pro627Thr) rs781473840
NM_001166114.2(PNPLA6):c.1888C>T (p.Arg630Cys)
NM_001166114.2(PNPLA6):c.188C>T (p.Thr63Met)
NM_001166114.2(PNPLA6):c.1899C>T (p.Asp633=)
NM_001166114.2(PNPLA6):c.1913G>A (p.Trp638Ter)
NM_001166114.2(PNPLA6):c.1927G>C (p.Ala643Pro)
NM_001166114.2(PNPLA6):c.192C>G (p.Ala64=)
NM_001166114.2(PNPLA6):c.1938G>A (p.Ala646=)
NM_001166114.2(PNPLA6):c.193G>A (p.Val65Met)
NM_001166114.2(PNPLA6):c.1946+11C>T
NM_001166114.2(PNPLA6):c.1946+12A>G
NM_001166114.2(PNPLA6):c.1946+13C>T
NM_001166114.2(PNPLA6):c.1946+16C>T rs2146087993
NM_001166114.2(PNPLA6):c.1946+19T>C rs2146088015
NM_001166114.2(PNPLA6):c.1946+2T>G
NM_001166114.2(PNPLA6):c.1946+8T>C
NM_001166114.2(PNPLA6):c.1947-10G>A
NM_001166114.2(PNPLA6):c.1947-13C>T
NM_001166114.2(PNPLA6):c.1947-17C>T
NM_001166114.2(PNPLA6):c.1947-6A>C rs752932750
NM_001166114.2(PNPLA6):c.1947-6A>G rs752932750
NM_001166114.2(PNPLA6):c.1947-7C>T rs1219660248
NM_001166114.2(PNPLA6):c.1947-9C>T
NM_001166114.2(PNPLA6):c.1962C>G (p.Ser654=) rs757870828
NM_001166114.2(PNPLA6):c.1963G>A (p.Asp655Asn) rs2023598411
NM_001166114.2(PNPLA6):c.1968C>A (p.Cys656Ter)
NM_001166114.2(PNPLA6):c.1969A>T (p.Thr657Ser)
NM_001166114.2(PNPLA6):c.1974C>A (p.Tyr658Ter)
NM_001166114.2(PNPLA6):c.197T>G (p.Leu66Arg) rs2146037449
NM_001166114.2(PNPLA6):c.1982T>G (p.Leu661Arg) rs2023598783
NM_001166114.2(PNPLA6):c.1986T>A (p.Asn662Lys) rs1568416066
NM_001166114.2(PNPLA6):c.2007C>T (p.Ile669=)
NM_001166114.2(PNPLA6):c.2013A>G (p.Arg671=)
NM_001166114.2(PNPLA6):c.2015G>C (p.Gly672Ala)
NM_001166114.2(PNPLA6):c.202C>T (p.Leu68Phe) rs2022847854
NM_001166114.2(PNPLA6):c.2043G>A (p.Glu681=) rs1338272029
NM_001166114.2(PNPLA6):c.2046C>A (p.Tyr682Ter) rs768438032
NM_001166114.2(PNPLA6):c.2058C>T (p.Asp686=)
NM_001166114.2(PNPLA6):c.2061C>T (p.Leu687=)
NM_001166114.2(PNPLA6):c.2070+11C>T
NM_001166114.2(PNPLA6):c.2070+7G>A rs2146088587
NM_001166114.2(PNPLA6):c.2070+8C>G rs2146088599
NM_001166114.2(PNPLA6):c.2070+9G>C rs752908818
NM_001166114.2(PNPLA6):c.2071-12G>A
NM_001166114.2(PNPLA6):c.2071-16G>A
NM_001166114.2(PNPLA6):c.2071-3del rs1568416371
NM_001166114.2(PNPLA6):c.2076G>A (p.Glu692=) rs2146089764
NM_001166114.2(PNPLA6):c.207G>A (p.Leu69=)
NM_001166114.2(PNPLA6):c.2086C>T (p.Arg696Trp) rs1252365178
NM_001166114.2(PNPLA6):c.2088G>T (p.Arg696=)
NM_001166114.2(PNPLA6):c.2098G>C (p.Ala700Pro) rs931291219
NM_001166114.2(PNPLA6):c.2100C>T (p.Ala700=) rs2023620224
NM_001166114.2(PNPLA6):c.2115G>A (p.Ala705=)
NM_001166114.2(PNPLA6):c.2122G>C (p.Asp708His) rs2023621348
NM_001166114.2(PNPLA6):c.2126C>G (p.Thr709Arg)
NM_001166114.2(PNPLA6):c.2145C>T (p.Pro715=) rs772124781
NM_001166114.2(PNPLA6):c.2149G>A (p.Gly717Ser) rs2146090036
NM_001166114.2(PNPLA6):c.2154C>T (p.Thr718=)
NM_001166114.2(PNPLA6):c.215G>A (p.Arg72Gln)
NM_001166114.2(PNPLA6):c.2170C>A (p.Arg724Ser) rs2146090101
NM_001166114.2(PNPLA6):c.2172C>T (p.Arg724=) rs2023623281
NM_001166114.2(PNPLA6):c.2176T>C (p.Tyr726His)
NM_001166114.2(PNPLA6):c.2178C>T (p.Tyr726=)
NM_001166114.2(PNPLA6):c.2183A>G (p.Gln728Arg)
NM_001166114.2(PNPLA6):c.2184+16G>A
NM_001166114.2(PNPLA6):c.2184+1G>A
NM_001166114.2(PNPLA6):c.2184+20G>A
NM_001166114.2(PNPLA6):c.2184+2T>G
NM_001166114.2(PNPLA6):c.2184+3_2184+4delinsTT
NM_001166114.2(PNPLA6):c.2184+4C>A
NM_001166114.2(PNPLA6):c.2184+8C>T
NM_001166114.2(PNPLA6):c.2184G>C (p.Gln728His) rs2023623991
NM_001166114.2(PNPLA6):c.2185-1G>T rs606231249
NM_001166114.2(PNPLA6):c.2185-20C>G rs2023642040
NM_001166114.2(PNPLA6):c.2185-6C>T
NM_001166114.2(PNPLA6):c.2185-7C>T
NM_001166114.2(PNPLA6):c.2193C>A (p.Thr731=)
NM_001166114.2(PNPLA6):c.219G>C (p.Arg73Ser)
NM_001166114.2(PNPLA6):c.2204A>G (p.His735Arg) rs2146091516
NM_001166114.2(PNPLA6):c.220C>T (p.Leu74=) rs2146037532
NM_001166114.2(PNPLA6):c.2213G>A (p.Ser738Asn)
NM_001166114.2(PNPLA6):c.2239C>G (p.Gln747Glu) rs2023644797
NM_001166114.2(PNPLA6):c.224G>A (p.Arg75Gln)
NM_001166114.2(PNPLA6):c.2256C>T (p.Phe752=)
NM_001166114.2(PNPLA6):c.2260+14G>A
NM_001166114.2(PNPLA6):c.2260+15G>A
NM_001166114.2(PNPLA6):c.2260+16C>T
NM_001166114.2(PNPLA6):c.2260+1G>C
NM_001166114.2(PNPLA6):c.2260+6A>C
NM_001166114.2(PNPLA6):c.2260G>C (p.Gly754Arg)
NM_001166114.2(PNPLA6):c.2261-12G>C
NM_001166114.2(PNPLA6):c.2261-13G>A
NM_001166114.2(PNPLA6):c.2272G>A (p.Gly758Ser)
NM_001166114.2(PNPLA6):c.2284C>A (p.His762Asn) rs2146099472
NM_001166114.2(PNPLA6):c.2285_2286dup (p.Ser763fs) rs2146099465
NM_001166114.2(PNPLA6):c.2289G>A (p.Ser763=)
NM_001166114.2(PNPLA6):c.2293C>G (p.Leu765Val) rs1374962353
NM_001166114.2(PNPLA6):c.232+15G>A
NM_001166114.2(PNPLA6):c.232+16G>T
NM_001166114.2(PNPLA6):c.233-11C>G
NM_001166114.2(PNPLA6):c.233-16C>G
NM_001166114.2(PNPLA6):c.233-16C>T
NM_001166114.2(PNPLA6):c.233-2A>G
NM_001166114.2(PNPLA6):c.2331C>G (p.Ile777Met)
NM_001166114.2(PNPLA6):c.2343T>C (p.Cys781=)
NM_001166114.2(PNPLA6):c.2349G>A (p.Glu783=)
NM_001166114.2(PNPLA6):c.2356A>G (p.Met786Val) rs2146099595
NM_001166114.2(PNPLA6):c.2373G>A (p.Leu791=)
NM_001166114.2(PNPLA6):c.2386G>T (p.Ala796Ser) rs144206674
NM_001166114.2(PNPLA6):c.2401+10G>C
NM_001166114.2(PNPLA6):c.2401+13del
NM_001166114.2(PNPLA6):c.2402-15C>A
NM_001166114.2(PNPLA6):c.2402-4del rs1467386153
NM_001166114.2(PNPLA6):c.2402-6C>T
NM_001166114.2(PNPLA6):c.2405dup (p.Thr803fs) rs1555749683
NM_001166114.2(PNPLA6):c.2406G>A (p.Pro802=)
NM_001166114.2(PNPLA6):c.2406G>T (p.Pro802=) rs779055692
NM_001166114.2(PNPLA6):c.2411T>C (p.Leu804Pro) rs148308965
NM_001166114.2(PNPLA6):c.2415C>G (p.Leu805=)
NM_001166114.2(PNPLA6):c.2415C>T (p.Leu805=) rs535490318
NM_001166114.2(PNPLA6):c.2422A>G (p.Ser808Gly) rs1402183916
NM_001166114.2(PNPLA6):c.2442C>T (p.Arg814=)
NM_001166114.2(PNPLA6):c.2455G>A (p.Ala819Thr) rs2146100619
NM_001166114.2(PNPLA6):c.2456C>T (p.Ala819Val)
NM_001166114.2(PNPLA6):c.2460G>A (p.Leu820=)
NM_001166114.2(PNPLA6):c.2465+11C>T
NM_001166114.2(PNPLA6):c.2465+12A>C
NM_001166114.2(PNPLA6):c.2466-13del
NM_001166114.2(PNPLA6):c.2466-13dup rs2146101488
NM_001166114.2(PNPLA6):c.2466-17C>T
NM_001166114.2(PNPLA6):c.2466-20C>G
NM_001166114.2(PNPLA6):c.2466-5C>A
NM_001166114.2(PNPLA6):c.246G>A (p.Pro82=) rs1160912108
NM_001166114.2(PNPLA6):c.2475G>A (p.Glu825=)
NM_001166114.2(PNPLA6):c.2518C>T (p.Arg840Cys) rs1599303242
NM_001166114.2(PNPLA6):c.2519G>C (p.Arg840Pro)
NM_001166114.2(PNPLA6):c.2523C>A (p.Ile841=) rs375484169
NM_001166114.2(PNPLA6):c.252C>A (p.Gly84=)
NM_001166114.2(PNPLA6):c.2533C>G (p.Gln845Glu) rs774188638
NM_001166114.2(PNPLA6):c.2533C>T (p.Gln845Ter)
NM_001166114.2(PNPLA6):c.2541C>G (p.Asp847Glu)
NM_001166114.2(PNPLA6):c.2542del (p.Ala848fs)
NM_001166114.2(PNPLA6):c.2555C>T (p.Pro852Leu)
NM_001166114.2(PNPLA6):c.2562C>T (p.Thr854=) rs1215386917
NM_001166114.2(PNPLA6):c.2566C>T (p.Arg856Cys) rs755352257
NM_001166114.2(PNPLA6):c.2571C>T (p.Cys857=) rs2146101890
NM_001166114.2(PNPLA6):c.2575C>A (p.Arg859=)
NM_001166114.2(PNPLA6):c.2583C>T (p.Ala861=)
NM_001166114.2(PNPLA6):c.2586C>T (p.Asp862=)
NM_001166114.2(PNPLA6):c.2587T>C (p.Cys863Arg) rs2146101950
NM_001166114.2(PNPLA6):c.2623A>C (p.Thr875Pro) rs1333226218
NM_001166114.2(PNPLA6):c.2628C>T (p.Leu876=)
NM_001166114.2(PNPLA6):c.2634+12G>A
NM_001166114.2(PNPLA6):c.2634G>A (p.Gln878=)
NM_001166114.2(PNPLA6):c.2635-11G>A rs764568947
NM_001166114.2(PNPLA6):c.2635-12C>T
NM_001166114.2(PNPLA6):c.2635-15G>A
NM_001166114.2(PNPLA6):c.2635-15G>C
NM_001166114.2(PNPLA6):c.2635-16C>T
NM_001166114.2(PNPLA6):c.2635-4G>A
NM_001166114.2(PNPLA6):c.264G>A (p.Arg88=)
NM_001166114.2(PNPLA6):c.2657C>T (p.Thr886Met)
NM_001166114.2(PNPLA6):c.2664G>A (p.Val888=)
NM_001166114.2(PNPLA6):c.266del (p.Phe89fs) rs2022862975
NM_001166114.2(PNPLA6):c.267C>T (p.Phe89=) rs2146038207
NM_001166114.2(PNPLA6):c.2680C>G (p.Leu894Val) rs2146102825
NM_001166114.2(PNPLA6):c.2685C>T (p.Val895=) rs1431448444
NM_001166114.2(PNPLA6):c.2688G>C (p.Leu896=) rs779565587
NM_001166114.2(PNPLA6):c.2707G>A (p.Ala903Thr)
NM_001166114.2(PNPLA6):c.2708C>T (p.Ala903Val) rs1319203305
NM_001166114.2(PNPLA6):c.2711G>T (p.Gly904Val)
NM_001166114.2(PNPLA6):c.2714C>T (p.Pro905Leu) rs1301640279
NM_001166114.2(PNPLA6):c.2715C>G (p.Pro905=) rs547174697
NM_001166114.2(PNPLA6):c.2718G>C (p.Thr906=) rs372391232
NM_001166114.2(PNPLA6):c.2727G>C (p.Val909=)
NM_001166114.2(PNPLA6):c.2746A>G (p.Ser916Gly) rs2023809980
NM_001166114.2(PNPLA6):c.2760G>T (p.Gly920=)
NM_001166114.2(PNPLA6):c.2774G>A (p.Arg925His)
NM_001166114.2(PNPLA6):c.2775C>T (p.Arg925=) rs2023810985
NM_001166114.2(PNPLA6):c.2782C>T (p.Arg928Cys) rs765924753
NM_001166114.2(PNPLA6):c.2787_2800dup (p.Arg934fs)
NM_001166114.2(PNPLA6):c.2794T>C (p.Ser932Pro)
NM_001166114.2(PNPLA6):c.2797C>T (p.Arg933Cys)
NM_001166114.2(PNPLA6):c.2799C>T (p.Arg933=)
NM_001166114.2(PNPLA6):c.2809_2810delinsAA (p.Ala937Asn)
NM_001166114.2(PNPLA6):c.2817+13C>G
NM_001166114.2(PNPLA6):c.2817+14C>T rs752461935
NM_001166114.2(PNPLA6):c.2817+15G>T rs1330741916
NM_001166114.2(PNPLA6):c.2817+16G>A rs2146103325
NM_001166114.2(PNPLA6):c.2817+16del
NM_001166114.2(PNPLA6):c.2817+19C>T
NM_001166114.2(PNPLA6):c.2817+21del
NM_001166114.2(PNPLA6):c.2817+8G>A
NM_001166114.2(PNPLA6):c.2818-12C>A
NM_001166114.2(PNPLA6):c.2818-16A>C rs2023822747
NM_001166114.2(PNPLA6):c.2818-20G>A
NM_001166114.2(PNPLA6):c.2818-20_2818-19delinsCG
NM_001166114.2(PNPLA6):c.2833A>G (p.Lys945Glu) rs958813626
NM_001166114.2(PNPLA6):c.2839_2840dup (p.Arg949fs) rs1168679768
NM_001166114.2(PNPLA6):c.2843C>T (p.Ser948Phe)
NM_001166114.2(PNPLA6):c.2850C>A (p.Arg950=)
NM_001166114.2(PNPLA6):c.2855A>G (p.Asp952Gly) rs2023826142
NM_001166114.2(PNPLA6):c.2877C>T (p.Arg959=) rs1479075714
NM_001166114.2(PNPLA6):c.2886G>T (p.Arg962Ser)
NM_001166114.2(PNPLA6):c.2908G>A (p.Ala970Thr) rs2023828884
NM_001166114.2(PNPLA6):c.2910C>T (p.Ala970=)
NM_001166114.2(PNPLA6):c.2913T>G (p.Leu971=) rs1599305283
NM_001166114.2(PNPLA6):c.2921G>T (p.Gly974Val) rs2023829631
NM_001166114.2(PNPLA6):c.2924G>A (p.Gly975Glu) rs1599305317
NM_001166114.2(PNPLA6):c.2928C>A (p.Gly976=)
NM_001166114.2(PNPLA6):c.2929G>A (p.Gly977Arg) rs1161640444
NM_001166114.2(PNPLA6):c.2930G>C (p.Gly977Ala)
NM_001166114.2(PNPLA6):c.2934_2936+13del rs1167314561
NM_001166114.2(PNPLA6):c.2934_2936+13dup
NM_001166114.2(PNPLA6):c.2936+12G>A
NM_001166114.2(PNPLA6):c.2936+14_2936+33del
NM_001166114.2(PNPLA6):c.2936+16G>A
NM_001166114.2(PNPLA6):c.2936+16G>C rs2023831779
NM_001166114.2(PNPLA6):c.2936+19C>T
NM_001166114.2(PNPLA6):c.2936+2T>C
NM_001166114.2(PNPLA6):c.2936+4A>G
NM_001166114.2(PNPLA6):c.2936+4A>T
NM_001166114.2(PNPLA6):c.2936+8C>T
NM_001166114.2(PNPLA6):c.2936+9G>A rs1599305430
NM_001166114.2(PNPLA6):c.2937-13A>G
NM_001166114.2(PNPLA6):c.2937-13A>T rs2146105279
NM_001166114.2(PNPLA6):c.2937-3C>T
NM_001166114.2(PNPLA6):c.2937-4G>A rs1178206789
NM_001166114.2(PNPLA6):c.2937-5G>A rs776211274
NM_001166114.2(PNPLA6):c.2937-7C>T
NM_001166114.2(PNPLA6):c.2946G>A (p.Ser982=)
NM_001166114.2(PNPLA6):c.2952C>A (p.Ile984=) rs767654280
NM_001166114.2(PNPLA6):c.2953G>C (p.Gly985Arg)
NM_001166114.2(PNPLA6):c.2964G>A (p.Lys988=)
NM_001166114.2(PNPLA6):c.2988C>A (p.Pro996=)
NM_001166114.2(PNPLA6):c.2991G>C (p.Val997=)
NM_001166114.2(PNPLA6):c.3004G>C (p.Gly1002Arg) rs772547801
NM_001166114.2(PNPLA6):c.3013A>T (p.Ile1005Phe) rs1335354975
NM_001166114.2(PNPLA6):c.3016G>A (p.Gly1006Ser)
NM_001166114.2(PNPLA6):c.3028G>A (p.Gly1010Arg) rs768107851
NM_001166114.2(PNPLA6):c.3041C>T (p.Ala1014Val)
NM_001166114.2(PNPLA6):c.3058_3061dup (p.Arg1021fs) rs606231167
NM_001166114.2(PNPLA6):c.3063C>T (p.Arg1021=)
NM_001166114.2(PNPLA6):c.306T>A (p.Ile102=) rs554346890
NM_001166114.2(PNPLA6):c.3077C>T (p.Ala1026Val)
NM_001166114.2(PNPLA6):c.3093+11C>T rs376813156
NM_001166114.2(PNPLA6):c.3093+17G>A
NM_001166114.2(PNPLA6):c.3093+19G>T
NM_001166114.2(PNPLA6):c.3093+20A>G
NM_001166114.2(PNPLA6):c.3093+6T>C rs1487510973
NM_001166114.2(PNPLA6):c.3094-11C>T
NM_001166114.2(PNPLA6):c.3094-11dup rs2146107854
NM_001166114.2(PNPLA6):c.3094-4C>T rs770724357
NM_001166114.2(PNPLA6):c.3094-6C>A rs202063739
NM_001166114.2(PNPLA6):c.3100A>G (p.Thr1034Ala)
NM_001166114.2(PNPLA6):c.3102T>C (p.Thr1034=)
NM_001166114.2(PNPLA6):c.3104C>A (p.Ser1035Ter)
NM_001166114.2(PNPLA6):c.3105G>T (p.Ser1035=) rs779667737
NM_001166114.2(PNPLA6):c.3112G>A (p.Glu1038Lys)
NM_001166114.2(PNPLA6):c.3131C>T (p.Thr1044Met)
NM_001166114.2(PNPLA6):c.3143C>T (p.Thr1048Ile) rs587777181
NM_001166114.2(PNPLA6):c.3147C>T (p.Ser1049=) rs2146108058
NM_001166114.2(PNPLA6):c.315+13C>G
NM_001166114.2(PNPLA6):c.315+15C>T
NM_001166114.2(PNPLA6):c.315+16C>T rs2146038392
NM_001166114.2(PNPLA6):c.315+1G>T
NM_001166114.2(PNPLA6):c.3152T>A (p.Phe1051Tyr) rs755407437
NM_001166114.2(PNPLA6):c.3153C>T (p.Phe1051=) rs2146108088
NM_001166114.2(PNPLA6):c.316-10_316-7dup rs758551500
NM_001166114.2(PNPLA6):c.316-12_316-11delinsAT rs2146038902
NM_001166114.2(PNPLA6):c.316-14C>T
NM_001166114.2(PNPLA6):c.316-16G>A
NM_001166114.2(PNPLA6):c.316-17C>T
NM_001166114.2(PNPLA6):c.3177C>T (p.Ser1059=) rs2023886520
NM_001166114.2(PNPLA6):c.3210+13C>T
NM_001166114.2(PNPLA6):c.3210+16C>T rs2146108294
NM_001166114.2(PNPLA6):c.3210+17C>T
NM_001166114.2(PNPLA6):c.3210+19C>T
NM_001166114.2(PNPLA6):c.3210+8C>T
NM_001166114.2(PNPLA6):c.3211-11T>C
NM_001166114.2(PNPLA6):c.3211-12del rs2146108627
NM_001166114.2(PNPLA6):c.3211-14C>A
NM_001166114.2(PNPLA6):c.3211-16A>T rs948743187
NM_001166114.2(PNPLA6):c.3211-17G>A
NM_001166114.2(PNPLA6):c.3211-18C>A
NM_001166114.2(PNPLA6):c.3211-20C>T
NM_001166114.2(PNPLA6):c.3211-4G>A rs779851141
NM_001166114.2(PNPLA6):c.3211-4G>T
NM_001166114.2(PNPLA6):c.3237G>A (p.Val1079=)
NM_001166114.2(PNPLA6):c.3255C>T (p.Ala1085=) rs1274449529
NM_001166114.2(PNPLA6):c.3265C>T (p.Arg1089Ter) rs562113164
NM_001166114.2(PNPLA6):c.3266G>A (p.Arg1089Gln) rs786201037
NM_001166114.2(PNPLA6):c.3270C>A (p.Val1090=)
NM_001166114.2(PNPLA6):c.3270C>T (p.Val1090=)
NM_001166114.2(PNPLA6):c.3276A>G (p.Lys1092=) rs2146108820
NM_001166114.2(PNPLA6):c.327C>A (p.Ser109=) rs2146038949
NM_001166114.2(PNPLA6):c.3280+13G>A
NM_001166114.2(PNPLA6):c.3281-3C>T rs2023917516
NM_001166114.2(PNPLA6):c.3281-5C>G rs370676290
NM_001166114.2(PNPLA6):c.3281-5C>T rs370676290
NM_001166114.2(PNPLA6):c.3281G>A (p.Gly1094Asp)
NM_001166114.2(PNPLA6):c.3292C>T (p.Arg1098Trp)
NM_001166114.2(PNPLA6):c.3296A>G (p.Tyr1099Cys) rs2146110600
NM_001166114.2(PNPLA6):c.3298G>A (p.Val1100Met) rs587777182
NM_001166114.2(PNPLA6):c.3301C>T (p.Arg1101Cys) rs2146110637
NM_001166114.2(PNPLA6):c.3309C>T (p.Ser1103=)
NM_001166114.2(PNPLA6):c.3310A>G (p.Met1104Val) rs1176866323
NM_001166114.2(PNPLA6):c.3315G>A (p.Thr1105=)
NM_001166114.2(PNPLA6):c.331TCC[1] (p.Ser112del)
NM_001166114.2(PNPLA6):c.3321G>A (p.Ser1107=)
NM_001166114.2(PNPLA6):c.3323G>T (p.Gly1108Val)
NM_001166114.2(PNPLA6):c.3335C>A (p.Pro1112Gln) rs748506175
NM_001166114.2(PNPLA6):c.3335C>T (p.Pro1112Leu) rs748506175
NM_001166114.2(PNPLA6):c.3336G>A (p.Pro1112=)
NM_001166114.2(PNPLA6):c.3337C>A (p.Leu1113Met) rs1210970179
NM_001166114.2(PNPLA6):c.3349A>G (p.Lys1117Glu) rs2146110782
NM_001166114.2(PNPLA6):c.334T>A (p.Ser112Thr) rs1193422027
NM_001166114.2(PNPLA6):c.3355G>C (p.Gly1119Arg) rs773955314
NM_001166114.2(PNPLA6):c.3361del (p.Leu1121fs) rs766796997
NM_001166114.2(PNPLA6):c.3390T>G (p.Asn1130Lys)
NM_001166114.2(PNPLA6):c.3394C>G (p.Pro1132Ala)
NM_001166114.2(PNPLA6):c.3397+11G>A rs370597983
NM_001166114.2(PNPLA6):c.3397+11G>C
NM_001166114.2(PNPLA6):c.3397+14C>G
NM_001166114.2(PNPLA6):c.3397+14C>T
NM_001166114.2(PNPLA6):c.3397+15G>A
NM_001166114.2(PNPLA6):c.3398-12del rs780867273
NM_001166114.2(PNPLA6):c.3398-19G>C
NM_001166114.2(PNPLA6):c.3398-7C>A
NM_001166114.2(PNPLA6):c.3398C>T (p.Ala1133Val) rs1361220718
NM_001166114.2(PNPLA6):c.339C>T (p.Leu113=)
NM_001166114.2(PNPLA6):c.3405C>A (p.Ile1135=) rs371848168
NM_001166114.2(PNPLA6):c.3405C>T (p.Ile1135=) rs371848168
NM_001166114.2(PNPLA6):c.3406G>A (p.Ala1136Thr) rs765257753
NM_001166114.2(PNPLA6):c.3414C>T (p.Ser1138=)
NM_001166114.2(PNPLA6):c.3417G>A (p.Met1139Ile)
NM_001166114.2(PNPLA6):c.3429G>A (p.Thr1143=) rs373083668
NM_001166114.2(PNPLA6):c.3436G>A (p.Ala1146Thr)
NM_001166114.2(PNPLA6):c.3444C>T (p.Asp1148=)
NM_001166114.2(PNPLA6):c.3458A>G (p.Asp1153Gly) rs1333307739
NM_001166114.2(PNPLA6):c.3461A>G (p.Glu1154Gly) rs1176067979
NM_001166114.2(PNPLA6):c.3464C>T (p.Thr1155Met) rs1404148214
NM_001166114.2(PNPLA6):c.3465G>A (p.Thr1155=)
NM_001166114.2(PNPLA6):c.3473G>A (p.Ser1158Asn)
NM_001166114.2(PNPLA6):c.347C>T (p.Thr116Ile) rs769226316
NM_001166114.2(PNPLA6):c.3483G>A (p.Gly1161=)
NM_001166114.2(PNPLA6):c.3484G>T (p.Asp1162Tyr) rs2023998335
NM_001166114.2(PNPLA6):c.3489C>G (p.Ser1163Arg)
NM_001166114.2(PNPLA6):c.3492G>C (p.Leu1164=) rs577065342
NM_001166114.2(PNPLA6):c.3501G>A (p.Trp1167Ter)
NM_001166114.2(PNPLA6):c.3503G>A (p.Trp1168Ter) rs1555751597
NM_001166114.2(PNPLA6):c.3507G>T (p.Leu1169=)
NM_001166114.2(PNPLA6):c.3517C>T (p.Arg1173Trp) rs766389806
NM_001166114.2(PNPLA6):c.3526C>T (p.Pro1176Ser)
NM_001166114.2(PNPLA6):c.3531G>C (p.Trp1177Cys) rs150230845
NM_001166114.2(PNPLA6):c.3541G>A (p.Val1181Ile) rs2146116601
NM_001166114.2(PNPLA6):c.3548T>G (p.Val1183Gly) rs757555345
NM_001166114.2(PNPLA6):c.3556A>T (p.Met1186Leu)
NM_001166114.2(PNPLA6):c.3574C>T (p.Arg1192Cys)
NM_001166114.2(PNPLA6):c.3585C>T (p.Tyr1195=)
NM_001166114.2(PNPLA6):c.3587T>C (p.Val1196Ala) rs2146116726
NM_001166114.2(PNPLA6):c.3598C>T (p.Arg1200Trp) rs754590075
NM_001166114.2(PNPLA6):c.3609G>A (p.Glu1203=)
NM_001166114.2(PNPLA6):c.3609G>T (p.Glu1203Asp)
NM_001166114.2(PNPLA6):c.3614T>C (p.Val1205Ala) rs1211079280
NM_001166114.2(PNPLA6):c.3621C>T (p.Ser1207=) rs2146116848
NM_001166114.2(PNPLA6):c.3626C>T (p.Ser1209Phe)
NM_001166114.2(PNPLA6):c.3627C>G (p.Ser1209=) rs1568423844
NM_001166114.2(PNPLA6):c.3643C>T (p.Arg1215Cys)
NM_001166114.2(PNPLA6):c.3644G>A (p.Arg1215His)
NM_001166114.2(PNPLA6):c.365C>G (p.Ser122Cys)
NM_001166114.2(PNPLA6):c.3666G>A (p.Lys1222=)
NM_001166114.2(PNPLA6):c.3668_3669insTT (p.Met1224fs)
NM_001166114.2(PNPLA6):c.366C>T (p.Ser122=)
NM_001166114.2(PNPLA6):c.3681G>A (p.Gly1227=)
NM_001166114.2(PNPLA6):c.3690C>T (p.Asp1230=) rs2146117085
NM_001166114.2(PNPLA6):c.3699+13G>A rs2146117176
NM_001166114.2(PNPLA6):c.3699+18G>T
NM_001166114.2(PNPLA6):c.3699+7G>T
NM_001166114.2(PNPLA6):c.3699+8G>T
NM_001166114.2(PNPLA6):c.3699T>C (p.Tyr1233=) rs2024006172
NM_001166114.2(PNPLA6):c.3700-3C>T rs766686613
NM_001166114.2(PNPLA6):c.3701A>T (p.Asp1234Val) rs778792847
NM_001166114.2(PNPLA6):c.3709T>C (p.Tyr1237His) rs2146121420
NM_001166114.2(PNPLA6):c.3711C>T (p.Tyr1237=)
NM_001166114.2(PNPLA6):c.3712C>A (p.Gln1238Lys) rs143072391
NM_001166114.2(PNPLA6):c.3720G>A (p.Gly1240=)
NM_001166114.2(PNPLA6):c.3723G>C (p.Lys1241Asn) rs1347589242
NM_001166114.2(PNPLA6):c.3725C>T (p.Ala1242Val)
NM_001166114.2(PNPLA6):c.3726G>A (p.Ala1242=) rs146121276
NM_001166114.2(PNPLA6):c.3726G>T (p.Ala1242=)
NM_001166114.2(PNPLA6):c.3750C>T (p.Gly1250=)
NM_001166114.2(PNPLA6):c.3768G>C (p.Met1256Ile) rs878854905
NM_001166114.2(PNPLA6):c.376A>C (p.Met126Leu)
NM_001166114.2(PNPLA6):c.3781C>T (p.Arg1261Trp)
NM_001166114.2(PNPLA6):c.3782G>A (p.Arg1261Gln) rs1354670102
NM_001166114.2(PNPLA6):c.3816+8T>C
NM_001166114.2(PNPLA6):c.3817-17C>A rs772520041
NM_001166114.2(PNPLA6):c.3819G>A (p.Val1273=)
NM_001166114.2(PNPLA6):c.381G>A (p.Arg127=) rs759341701
NM_001166114.2(PNPLA6):c.3823G>A (p.Ala1275Thr) rs139102273
NM_001166114.2(PNPLA6):c.3828C>T (p.Phe1276=)
NM_001166114.2(PNPLA6):c.384G>A (p.Lys128=)
NM_001166114.2(PNPLA6):c.3851T>A (p.Leu1284Ter)
NM_001166114.2(PNPLA6):c.3864G>T (p.Val1288=) rs1453431720
NM_001166114.2(PNPLA6):c.3876G>C (p.Glu1292Asp)
NM_001166114.2(PNPLA6):c.3881C>T (p.Pro1294Leu)
NM_001166114.2(PNPLA6):c.3882C>G (p.Pro1294=) rs202070445
NM_001166114.2(PNPLA6):c.3883A>G (p.Thr1295Ala) rs2146122983
NM_001166114.2(PNPLA6):c.3884C>G (p.Thr1295Arg)
NM_001166114.2(PNPLA6):c.3903C>T (p.Gly1301=)
NM_001166114.2(PNPLA6):c.3910G>A (p.Asp1304Asn)
NM_001166114.2(PNPLA6):c.3913+15G>A rs2146123108
NM_001166114.2(PNPLA6):c.3913+17_3913+18del
NM_001166114.2(PNPLA6):c.3913+1G>A
NM_001166114.2(PNPLA6):c.3913+23del rs11307097
NM_001166114.2(PNPLA6):c.3913+23dup rs11307097
NM_001166114.2(PNPLA6):c.3913+8G>C
NM_001166114.2(PNPLA6):c.3914-12C>G
NM_001166114.2(PNPLA6):c.3917A>G (p.Glu1306Gly)
NM_001166114.2(PNPLA6):c.3925del (p.Asp1309fs) rs1060502664
NM_001166114.2(PNPLA6):c.3938A>C (p.Glu1313Ala) rs2024087885
NM_001166114.2(PNPLA6):c.3951C>G (p.Asp1317Glu)
NM_001166114.2(PNPLA6):c.3952G>A (p.Ala1318Thr)
NM_001166114.2(PNPLA6):c.3958C>A (p.Pro1320Thr)
NM_001166114.2(PNPLA6):c.3960C>T (p.Pro1320=)
NM_001166114.2(PNPLA6):c.3969G>C (p.Ser1323=) rs141360025
NM_001166114.2(PNPLA6):c.3973G>A (p.Asp1325Asn) rs1269084486
NM_001166114.2(PNPLA6):c.3977A>C (p.Glu1326Ala) rs2024089279
NM_001166114.2(PNPLA6):c.3979G>T (p.Gly1327Trp) rs1555752329
NM_001166114.2(PNPLA6):c.3983G>T (p.Gly1328Val)
NM_001166114.2(PNPLA6):c.3984dup (p.Ser1329fs) rs753221489
NM_001166114.2(PNPLA6):c.3989_4005del (p.Pro1330fs)
NM_001166114.2(PNPLA6):c.3990C>A (p.Pro1330=) rs535388759
NM_001166114.2(PNPLA6):c.3998C>A (p.Ala1333Glu) rs1385761016
NM_001166114.2(PNPLA6):c.3999A>C (p.Ala1333=) rs2146123842
NM_001166114.2(PNPLA6):c.4006A>C (p.Ser1336Arg)
NM_001166114.2(PNPLA6):c.401A>C (p.Asn134Thr) rs2022879793
NM_001166114.2(PNPLA6):c.401A>G (p.Asn134Ser)
NM_001166114.2(PNPLA6):c.4023+16C>T
NM_001166114.2(PNPLA6):c.4023+17C>T
NM_001166114.2(PNPLA6):c.4023+7G>A
NM_001166114.2(PNPLA6):c.4024-19G>A
NM_001166114.2(PNPLA6):c.4024-1G>A
NM_001166114.2(PNPLA6):c.4024-4G>A
NM_001166114.2(PNPLA6):c.4024-5C>T
NM_001166114.2(PNPLA6):c.4024-7C>T
NM_001166114.2(PNPLA6):c.4024-8C>A
NM_001166114.2(PNPLA6):c.4028A>T (p.Glu1343Val) rs2024099174
NM_001166114.2(PNPLA6):c.4032G>A (p.Glu1344=) rs1399231771
NM_001166114.2(PNPLA6):c.4038G>A (p.Ser1346=) rs757676882
NM_001166114.2(PNPLA6):c.4049A>G (p.Gln1350Arg) rs2146124636
NM_001166114.2(PNPLA6):c.4055G>A (p.Arg1352His) rs746687452
NM_001166114.2(PNPLA6):c.4055G>C (p.Arg1352Pro) rs746687452
NM_001166114.2(PNPLA6):c.4055_4056delinsAT (p.Arg1352His) rs2024100609
NM_001166114.2(PNPLA6):c.4060C>G (p.Leu1354Val) rs150392453
NM_001166114.2(PNPLA6):c.4071G>T (p.Glu1357Asp) rs1198155966
NM_001166114.2(PNPLA6):c.4074G>T (p.Pro1358=)
NM_001166114.2(PNPLA6):c.4078G>T (p.Gly1360Cys)
NM_001166114.2(PNPLA6):c.4095del (p.Ter1366GluextTer?) rs2024103130
NM_001166114.2(PNPLA6):c.4097G>A (p.Ter1366=)
NM_001166114.2(PNPLA6):c.413+11G>C
NM_001166114.2(PNPLA6):c.413+13T>G
NM_001166114.2(PNPLA6):c.413+1G>A
NM_001166114.2(PNPLA6):c.413+8T>A rs997735081
NM_001166114.2(PNPLA6):c.414-10C>G
NM_001166114.2(PNPLA6):c.414-14T>A rs953147743
NM_001166114.2(PNPLA6):c.414-17C>T
NM_001166114.2(PNPLA6):c.414-4C>A
NM_001166114.2(PNPLA6):c.414-4_414-2del rs771196056
NM_001166114.2(PNPLA6):c.417C>A (p.Ile139=)
NM_001166114.2(PNPLA6):c.418C>T (p.Leu140=)
NM_001166114.2(PNPLA6):c.421C>T (p.Arg141Cys) rs764125789
NM_001166114.2(PNPLA6):c.438G>A (p.Thr146=)
NM_001166114.2(PNPLA6):c.438G>C (p.Thr146=) rs559066236
NM_001166114.2(PNPLA6):c.441C>T (p.Pro147=)
NM_001166114.2(PNPLA6):c.469G>A (p.Ala157Thr)
NM_001166114.2(PNPLA6):c.469G>T (p.Ala157Ser) rs767940871
NM_001166114.2(PNPLA6):c.475C>T (p.Leu159=)
NM_001166114.2(PNPLA6):c.486C>T (p.Asp162=)
NM_001166114.2(PNPLA6):c.493G>A (p.Glu165Lys) rs1370160653
NM_001166114.2(PNPLA6):c.498C>T (p.Gly166=)
NM_001166114.2(PNPLA6):c.554+12_554+16dup
NM_001166114.2(PNPLA6):c.554+13G>T
NM_001166114.2(PNPLA6):c.554+17A>T rs1170781714
NM_001166114.2(PNPLA6):c.554+7G>T
NM_001166114.2(PNPLA6):c.555-11C>T
NM_001166114.2(PNPLA6):c.555-14C>G
NM_001166114.2(PNPLA6):c.555-14C>T rs772339510
NM_001166114.2(PNPLA6):c.555-3C>T rs764501990
NM_001166114.2(PNPLA6):c.555G>T (p.Arg185=) rs1329932060
NM_001166114.2(PNPLA6):c.579A>C (p.Pro193=) rs762342193
NM_001166114.2(PNPLA6):c.579A>T (p.Pro193=) rs762342193
NM_001166114.2(PNPLA6):c.598C>T (p.Arg200Cys) rs2146050796
NM_001166114.2(PNPLA6):c.609C>T (p.Val203=) rs1599271966
NM_001166114.2(PNPLA6):c.643C>A (p.Arg215=)
NM_001166114.2(PNPLA6):c.656C>G (p.Pro219Arg) rs1246188701
NM_001166114.2(PNPLA6):c.672C>T (p.Tyr224=)
NM_001166114.2(PNPLA6):c.675G>A (p.Val225=)
NM_001166114.2(PNPLA6):c.678_679delinsAA (p.Gln227Lys) rs2146051181
NM_001166114.2(PNPLA6):c.685G>A (p.Gly229Arg) rs1174515690
NM_001166114.2(PNPLA6):c.690G>C (p.Leu230=)
NM_001166114.2(PNPLA6):c.696G>A (p.Glu232=) rs1334721979
NM_001166114.2(PNPLA6):c.697C>T (p.Leu233Phe)
NM_001166114.2(PNPLA6):c.699C>T (p.Leu233=)
NM_001166114.2(PNPLA6):c.699_700del (p.Cys234fs) rs2146051234
NM_001166114.2(PNPLA6):c.703C>T (p.Leu235=)
NM_001166114.2(PNPLA6):c.706C>T (p.Pro236Ser) rs2023070805
NM_001166114.2(PNPLA6):c.710G>A (p.Gly237Glu) rs765649401
NM_001166114.2(PNPLA6):c.711G>C (p.Gly237=) rs773675660
NM_001166114.2(PNPLA6):c.714+1G>A
NM_001166114.2(PNPLA6):c.714+8G>A
NM_001166114.2(PNPLA6):c.715-13_715-12del
NM_001166114.2(PNPLA6):c.715-16G>T
NM_001166114.2(PNPLA6):c.715-17G>C rs372017403
NM_001166114.2(PNPLA6):c.715-1G>A
NM_001166114.2(PNPLA6):c.721A>C (p.Lys241Gln)
NM_001166114.2(PNPLA6):c.726G>A (p.Glu242=)
NM_001166114.2(PNPLA6):c.741A>G (p.Glu247=) rs773587782
NM_001166114.2(PNPLA6):c.759C>T (p.Ser253=) rs757493256
NM_001166114.2(PNPLA6):c.782T>G (p.Leu261Arg) rs2023091581
NM_001166114.2(PNPLA6):c.786T>C (p.Asp262=)
NM_001166114.2(PNPLA6):c.795+18G>A rs2146052894
NM_001166114.2(PNPLA6):c.796-16C>T
NM_001166114.2(PNPLA6):c.796-18C>T
NM_001166114.2(PNPLA6):c.797G>A (p.Gly266Asp) rs2146053653
NM_001166114.2(PNPLA6):c.801C>T (p.His267=)
NM_001166114.2(PNPLA6):c.805C>T (p.His269Tyr)
NM_001166114.2(PNPLA6):c.806A>C (p.His269Pro)
NM_001166114.2(PNPLA6):c.811C>T (p.Gln271Ter)
NM_001166114.2(PNPLA6):c.819C>T (p.Thr273=)
NM_001166114.2(PNPLA6):c.829C>T (p.Arg277Trp)
NM_001166114.2(PNPLA6):c.833C>G (p.Ala278Gly) rs1433313104
NM_001166114.2(PNPLA6):c.834G>A (p.Ala278=)
NM_001166114.2(PNPLA6):c.836C>T (p.Ala279Val)
NM_001166114.2(PNPLA6):c.839G>A (p.Arg280Gln)
NM_001166114.2(PNPLA6):c.848C>G (p.Thr283Arg) rs772665971
NM_001166114.2(PNPLA6):c.848C>T (p.Thr283Met)
NM_001166114.2(PNPLA6):c.849G>T (p.Thr283=)
NM_001166114.2(PNPLA6):c.852G>A (p.Val284=) rs2146053863
NM_001166114.2(PNPLA6):c.859C>T (p.Leu287=)
NM_001166114.2(PNPLA6):c.860T>A (p.Leu287Gln)
NM_001166114.2(PNPLA6):c.864G>C (p.Pro288=)
NM_001166114.2(PNPLA6):c.864G>T (p.Pro288=) rs369082833
NM_001166114.2(PNPLA6):c.878C>T (p.Ser293Phe) rs1441967962
NM_001166114.2(PNPLA6):c.882G>A (p.Ala294=) rs2023111489
NM_001166114.2(PNPLA6):c.890C>A (p.Thr297Asn) rs777868937
NM_001166114.2(PNPLA6):c.898C>A (p.Pro300Thr) rs1057518936
NM_001166114.2(PNPLA6):c.899C>T (p.Pro300Leu)
NM_001166114.2(PNPLA6):c.913C>T (p.Arg305Trp) rs866964055
NM_001166114.2(PNPLA6):c.919G>C (p.Val307Leu)
NM_001166114.2(PNPLA6):c.925-12C>A
NM_001166114.2(PNPLA6):c.925-12C>T rs370904772
NM_001166114.2(PNPLA6):c.925-19C>T rs759517233
NM_001166114.2(PNPLA6):c.925-20A>G rs2023129445
NM_001166114.2(PNPLA6):c.925-6C>T
NM_001166114.2(PNPLA6):c.930C>T (p.Ile310=)
NM_001166114.2(PNPLA6):c.938G>A (p.Arg313Gln) rs2023131773
NM_001166114.2(PNPLA6):c.939G>T (p.Arg313=)
NM_001166114.2(PNPLA6):c.945G>T (p.Gln315His)
NM_001166114.2(PNPLA6):c.975C>T (p.Tyr325=)
NM_001166114.2(PNPLA6):c.978G>A (p.Leu326=)
NM_001346754.2(PIGW):c.1003_1004del (p.Asp335fs)
NM_001346754.2(PIGW):c.100C>T (p.Leu34=) rs1599476133
NM_001346754.2(PIGW):c.1016_1018del (p.Val339del)
NM_001346754.2(PIGW):c.102G>A (p.Leu34=)
NM_001346754.2(PIGW):c.1030T>C (p.Leu344=)
NM_001346754.2(PIGW):c.1030T>G (p.Leu344Val) rs371945461
NM_001346754.2(PIGW):c.1060_1061del (p.Tyr355fs) rs749338692
NM_001346754.2(PIGW):c.1062_1063del (p.Tyr355fs)
NM_001346754.2(PIGW):c.1063T>C (p.Tyr355His) rs758655367
NM_001346754.2(PIGW):c.106dup (p.Arg36fs)
NM_001346754.2(PIGW):c.1097G>A (p.Arg366Gln) rs769740282
NM_001346754.2(PIGW):c.1110T>C (p.Asn370=) rs1203780630
NM_001346754.2(PIGW):c.1112T>C (p.Leu371Ser)
NM_001346754.2(PIGW):c.1115_1121del (p.Ala372fs) rs779029016
NM_001346754.2(PIGW):c.1132G>A (p.Val378Ile) rs79448900
NM_001346754.2(PIGW):c.1136C>G (p.Ala379Gly) rs1183657483
NM_001346754.2(PIGW):c.1141A>C (p.Ser381Arg) rs2142620901
NM_001346754.2(PIGW):c.116T>C (p.Leu39Pro)
NM_001346754.2(PIGW):c.1172G>A (p.Gly391Asp)
NM_001346754.2(PIGW):c.1178T>C (p.Ile393Thr)
NM_001346754.2(PIGW):c.1183T>C (p.Leu395=) rs2074171167
NM_001346754.2(PIGW):c.1185G>A (p.Leu395=)
NM_001346754.2(PIGW):c.1194C>T (p.Ala398=)
NM_001346754.2(PIGW):c.1202del (p.Leu401fs)
NM_001346754.2(PIGW):c.1238T>C (p.Leu413Pro) rs2142621502
NM_001346754.2(PIGW):c.1238T>G (p.Leu413Arg)
NM_001346754.2(PIGW):c.1240A>C (p.Ile414Leu) rs2142621523
NM_001346754.2(PIGW):c.1242C>T (p.Ile414=)
NM_001346754.2(PIGW):c.1246T>C (p.Ser416Pro)
NM_001346754.2(PIGW):c.1249C>G (p.Pro417Ala)
NM_001346754.2(PIGW):c.1256C>A (p.Thr419Lys) rs2142621645
NM_001346754.2(PIGW):c.1266G>A (p.Lys422=)
NM_001346754.2(PIGW):c.1269T>C (p.His423=)
NM_001346754.2(PIGW):c.126C>T (p.Phe42=)
NM_001346754.2(PIGW):c.1271C>G (p.Ser424Ter) rs2074172383
NM_001346754.2(PIGW):c.1277C>T (p.Ser426Phe) rs770369186
NM_001346754.2(PIGW):c.1284C>A (p.Val428=)
NM_001346754.2(PIGW):c.1286C>T (p.Pro429Leu)
NM_001346754.2(PIGW):c.1290A>G (p.Glu430=)
NM_001346754.2(PIGW):c.1297A>C (p.Arg433=) rs1240970102
NM_001346754.2(PIGW):c.12G>A (p.Lys4=)
NM_001346754.2(PIGW):c.1307C>A (p.Pro436His)
NM_001346754.2(PIGW):c.132G>A (p.Gln44=)
NM_001346754.2(PIGW):c.1334A>C (p.Asn445Thr) rs1407125462
NM_001346754.2(PIGW):c.1335C>T (p.Asn445=)
NM_001346754.2(PIGW):c.1349T>C (p.Ile450Thr)
NM_001346754.2(PIGW):c.1359G>A (p.Leu453=)
NM_001346754.2(PIGW):c.1364C>G (p.Ser455Ter)
NM_001346754.2(PIGW):c.1369A>G (p.Ile457Val) rs2142622297
NM_001346754.2(PIGW):c.1388A>C (p.Asn463Thr) rs2142622453
NM_001346754.2(PIGW):c.1411A>G (p.Ser471Gly)
NM_001346754.2(PIGW):c.1421T>C (p.Leu474Ser)
NM_001346754.2(PIGW):c.1426G>A (p.Ala476Thr)
NM_001346754.2(PIGW):c.1433T>C (p.Phe478Ser) rs2074175043
NM_001346754.2(PIGW):c.1446_1447del (p.Met484fs) rs1223732394
NM_001346754.2(PIGW):c.1449T>C (p.Tyr483=)
NM_001346754.2(PIGW):c.144T>C (p.Ser48=)
NM_001346754.2(PIGW):c.1450A>G (p.Met484Val) rs1290721958
NM_001346754.2(PIGW):c.1450_1451del (p.Met484fs) rs768711087
NM_001346754.2(PIGW):c.1476T>C (p.Tyr492=)
NM_001346754.2(PIGW):c.1479A>C (p.Val493=)
NM_001346754.2(PIGW):c.147T>C (p.Phe49=)
NM_001346754.2(PIGW):c.1482A>G (p.Leu494=)
NM_001346754.2(PIGW):c.1501_1502del (p.Val501fs)
NM_001346754.2(PIGW):c.1514G>A (p.Ter505=)
NM_001346754.2(PIGW):c.156C>G (p.Thr52=)
NM_001346754.2(PIGW):c.158G>A (p.Trp53Ter)
NM_001346754.2(PIGW):c.159G>A (p.Trp53Ter)
NM_001346754.2(PIGW):c.15G>C (p.Gln5His)
NM_001346754.2(PIGW):c.15G>T (p.Gln5His)
NM_001346754.2(PIGW):c.171C>T (p.Phe57=)
NM_001346754.2(PIGW):c.190C>T (p.Leu64=)
NM_001346754.2(PIGW):c.213T>G (p.Thr71=) rs764647885
NM_001346754.2(PIGW):c.216G>A (p.Leu72=)
NM_001346754.2(PIGW):c.21G>A (p.Lys7=)
NM_001346754.2(PIGW):c.222T>C (p.Ile74=)
NM_001346754.2(PIGW):c.234T>A (p.Phe78Leu)
NM_001346754.2(PIGW):c.234T>C (p.Phe78=) rs767714420
NM_001346754.2(PIGW):c.252C>T (p.Leu84=)
NM_001346754.2(PIGW):c.262A>G (p.Ile88Val)
NM_001346754.2(PIGW):c.271_272delinsAT (p.Ala91Ile) rs2142614917
NM_001346754.2(PIGW):c.291del (p.Tyr98fs)
NM_001346754.2(PIGW):c.294C>T (p.Tyr98=)
NM_001346754.2(PIGW):c.296G>A (p.Arg99Gln)
NM_001346754.2(PIGW):c.296G>C (p.Arg99Pro) rs769619152
NM_001346754.2(PIGW):c.308G>T (p.Cys103Phe) rs2142615234
NM_001346754.2(PIGW):c.309C>G (p.Cys103Trp)
NM_001346754.2(PIGW):c.322C>T (p.Pro108Ser)
NM_001346754.2(PIGW):c.323C>T (p.Pro108Leu)
NM_001346754.2(PIGW):c.328C>G (p.Leu110Val) rs2074157511
NM_001346754.2(PIGW):c.345A>G (p.Lys115=)
NM_001346754.2(PIGW):c.359G>A (p.Ser120Asn) rs1433821334
NM_001346754.2(PIGW):c.360T>C (p.Ser120=) rs1191251061
NM_001346754.2(PIGW):c.369A>C (p.Ser123=)
NM_001346754.2(PIGW):c.385A>G (p.Ile129Val)
NM_001346754.2(PIGW):c.400G>A (p.Val134Ile)
NM_001346754.2(PIGW):c.407C>G (p.Thr136Ser) rs762208126
NM_001346754.2(PIGW):c.408C>T (p.Thr136=)
NM_001346754.2(PIGW):c.410G>A (p.Ser137Asn) rs2142615931
NM_001346754.2(PIGW):c.413C>T (p.Ala138Val)
NM_001346754.2(PIGW):c.414G>A (p.Ala138=)
NM_001346754.2(PIGW):c.436G>T (p.Ala146Ser)
NM_001346754.2(PIGW):c.455T>G (p.Phe152Cys)
NM_001346754.2(PIGW):c.460AGA[1] (p.Arg155del) rs763712145
NM_001346754.2(PIGW):c.465A>C (p.Arg155Ser) rs2142616280
NM_001346754.2(PIGW):c.485A>G (p.Tyr162Cys) rs757111382
NM_001346754.2(PIGW):c.488G>T (p.Gly163Val) rs2142616351
NM_001346754.2(PIGW):c.495A>G (p.Gly165=)
NM_001346754.2(PIGW):c.501G>C (p.Met167Ile)
NM_001346754.2(PIGW):c.530G>A (p.Gly177Glu) rs2142616545
NM_001346754.2(PIGW):c.537A>G (p.Ala179=)
NM_001346754.2(PIGW):c.547C>G (p.Leu183Val)
NM_001346754.2(PIGW):c.54C>G (p.Thr18=) rs529378174
NM_001346754.2(PIGW):c.54C>T (p.Thr18=) rs529378174
NM_001346754.2(PIGW):c.558dup (p.Arg187fs) rs2142616752
NM_001346754.2(PIGW):c.55G>A (p.Val19Met)
NM_001346754.2(PIGW):c.563G>C (p.Arg188Thr)
NM_001346754.2(PIGW):c.58C>T (p.Leu20=) rs1439603716
NM_001346754.2(PIGW):c.5C>A (p.Ser2Tyr)
NM_001346754.2(PIGW):c.600A>G (p.Thr200=)
NM_001346754.2(PIGW):c.606_608del (p.Leu203del) rs2074161776
NM_001346754.2(PIGW):c.607T>C (p.Leu203=)
NM_001346754.2(PIGW):c.608T>C (p.Leu203Ser)
NM_001346754.2(PIGW):c.613T>G (p.Ser205Ala)
NM_001346754.2(PIGW):c.617_620del (p.Val206fs) rs753385776
NM_001346754.2(PIGW):c.619T>A (p.Trp207Arg) rs1334939813
NM_001346754.2(PIGW):c.623C>T (p.Pro208Leu)
NM_001346754.2(PIGW):c.634C>T (p.Leu212=)
NM_001346754.2(PIGW):c.643G>A (p.Gly215Arg)
NM_001346754.2(PIGW):c.660A>G (p.Ile220Met)
NM_001346754.2(PIGW):c.677A>G (p.Gln226Arg) rs1337758912
NM_001346754.2(PIGW):c.683A>G (p.His228Arg)
NM_001346754.2(PIGW):c.684T>C (p.His228=) rs1426728899
NM_001346754.2(PIGW):c.699A>T (p.Gly233=)
NM_001346754.2(PIGW):c.704A>G (p.His235Arg) rs1157493972
NM_001346754.2(PIGW):c.708del (p.His235_Trp236insTer) rs764773930
NM_001346754.2(PIGW):c.723C>A (p.Thr241=)
NM_001346754.2(PIGW):c.723C>T (p.Thr241=)
NM_001346754.2(PIGW):c.728T>C (p.Ile243Thr)
NM_001346754.2(PIGW):c.749C>T (p.Pro250Leu) rs1201986978
NM_001346754.2(PIGW):c.74G>A (p.Gly25Glu) rs2142613690
NM_001346754.2(PIGW):c.750A>G (p.Pro250=)
NM_001346754.2(PIGW):c.759G>A (p.Leu253=)
NM_001346754.2(PIGW):c.768T>C (p.Phe256=)
NM_001346754.2(PIGW):c.775_776del (p.Leu258_Asn259insTer)
NM_001346754.2(PIGW):c.776A>G (p.Asn259Ser)
NM_001346754.2(PIGW):c.801C>T (p.Gly267=)
NM_001346754.2(PIGW):c.806C>G (p.Thr269Ser) rs2142618358
NM_001346754.2(PIGW):c.810A>G (p.Val270=)
NM_001346754.2(PIGW):c.813A>G (p.Leu271=)
NM_001346754.2(PIGW):c.820C>T (p.Leu274=)
NM_001346754.2(PIGW):c.826C>T (p.Leu276Phe) rs2074165401
NM_001346754.2(PIGW):c.833T>G (p.Phe278Cys)
NM_001346754.2(PIGW):c.840A>G (p.Ser280=)
NM_001346754.2(PIGW):c.841C>T (p.Leu281=) rs2142618552
NM_001346754.2(PIGW):c.849G>A (p.Arg283=)
NM_001346754.2(PIGW):c.856T>C (p.Leu286=) rs2074165957
NM_001346754.2(PIGW):c.858A>G (p.Leu286=) rs750915031
NM_001346754.2(PIGW):c.863G>T (p.Gly288Val) rs1745821520
NM_001346754.2(PIGW):c.863del (p.Gly288fs) rs753213838
NM_001346754.2(PIGW):c.870T>C (p.Asp290=)
NM_001346754.2(PIGW):c.871G>T (p.Gly291Cys) rs2142618795
NM_001346754.2(PIGW):c.879C>T (p.Gly293=)
NM_001346754.2(PIGW):c.885G>C (p.Arg295=)
NM_001346754.2(PIGW):c.891T>G (p.Gly297=)
NM_001346754.2(PIGW):c.894A>C (p.Leu298=) rs1483319678
NM_001346754.2(PIGW):c.901G>T (p.Ala301Ser)
NM_001346754.2(PIGW):c.905A>G (p.Asn302Ser) rs773486077
NM_001346754.2(PIGW):c.905A>T (p.Asn302Ile) rs773486077
NM_001346754.2(PIGW):c.906C>T (p.Asn302=)
NM_001346754.2(PIGW):c.907C>T (p.Arg303Cys)
NM_001346754.2(PIGW):c.915AAT[1] (p.Ile307del) rs2142619101
NM_001346754.2(PIGW):c.924T>C (p.Ser308=)
NM_001346754.2(PIGW):c.925A>G (p.Thr309Ala)
NM_001346754.2(PIGW):c.937G>C (p.Val313Leu) rs2142619250
NM_001346754.2(PIGW):c.965C>T (p.Thr322Ile) rs2074167451
NM_001346754.2(PIGW):c.966A>G (p.Thr322=) rs754169928
NM_001346754.2(PIGW):c.966A>T (p.Thr322=)
NM_001346754.2(PIGW):c.979C>T (p.His327Tyr)
NM_001346754.2(PIGW):c.980A>G (p.His327Arg) rs528500343
NM_001346754.2(PIGW):c.989G>A (p.Arg330Gln) rs147971755
NM_001346754.2(PIGW):c.989G>T (p.Arg330Leu) rs147971755
NM_001360.3(DHCR7):c.1001C>T (p.Thr334Ile)
NM_001360.3(DHCR7):c.1004C>T (p.Pro335Leu)
NM_001360.3(DHCR7):c.1004del (p.Pro335fs) rs1555145646
NM_001360.3(DHCR7):c.1005G>C (p.Pro335=) rs768765843
NM_001360.3(DHCR7):c.1011C>G (p.Ala337=) rs369382960
NM_001360.3(DHCR7):c.1012del (p.Val338fs)
NM_001360.3(DHCR7):c.1017C>G (p.Gly339=)
NM_001360.3(DHCR7):c.1020C>T (p.Val340=) rs763165078
NM_001360.3(DHCR7):c.1022T>C (p.Leu341Pro) rs1317526744
NM_001360.3(DHCR7):c.1031G>A (p.Gly344Asp) rs1409887214
NM_001360.3(DHCR7):c.1031del (p.Gly344fs)
NM_001360.3(DHCR7):c.1035G>C (p.Leu345=)
NM_001360.3(DHCR7):c.1039G>A (p.Gly347Ser)
NM_001360.3(DHCR7):c.1040G>T (p.Gly347Val)
NM_001360.3(DHCR7):c.1041C>T (p.Gly347=)
NM_001360.3(DHCR7):c.1047C>T (p.Tyr349=)
NM_001360.3(DHCR7):c.1050C>T (p.Ile350=)
NM_001360.3(DHCR7):c.1055G>A (p.Arg352Gln) rs121909768
NM_001360.3(DHCR7):c.1056G>A (p.Arg352=)
NM_001360.3(DHCR7):c.1056G>T (p.Arg352=) rs1214267485
NM_001360.3(DHCR7):c.1057del (p.Val353fs) rs759720450
NM_001360.3(DHCR7):c.105G>A (p.Val35=)
NM_001360.3(DHCR7):c.105G>T (p.Val35=)
NM_001360.3(DHCR7):c.1062C>G (p.Ala354=)
NM_001360.3(DHCR7):c.1066del (p.His356fs) rs774291653
NM_001360.3(DHCR7):c.106G>A (p.Asp36Asn) rs2120355049
NM_001360.3(DHCR7):c.1077C>T (p.Asp359=) rs1346912055
NM_001360.3(DHCR7):c.1079T>C (p.Leu360Pro) rs1555145619
NM_001360.3(DHCR7):c.1083C>G (p.Phe361Leu) rs780088227
NM_001360.3(DHCR7):c.1084C>G (p.Arg362Gly) rs371302153
NM_001360.3(DHCR7):c.1086C>T (p.Arg362=) rs1459497627
NM_001360.3(DHCR7):c.1089C>T (p.Arg363=)
NM_001360.3(DHCR7):c.108C>T (p.Asp36=)
NM_001360.3(DHCR7):c.1097G>T (p.Gly366Val) rs1555145614
NM_001360.3(DHCR7):c.1098G>A (p.Gly366=) rs2135939894
NM_001360.3(DHCR7):c.109T>G (p.Trp37Gly)
NM_001360.3(DHCR7):c.1107C>T (p.Leu369=)
NM_001360.3(DHCR7):c.110G>A (p.Trp37Ter)
NM_001360.3(DHCR7):c.1110C>T (p.Ile370=) rs2135939865
NM_001360.3(DHCR7):c.1112G>A (p.Trp371Ter) rs1591107421
NM_001360.3(DHCR7):c.1113G>A (p.Trp371Ter)
NM_001360.3(DHCR7):c.1131C>A (p.Val377=) rs2135939836
NM_001360.3(DHCR7):c.1137G>A (p.Glu379=)
NM_001360.3(DHCR7):c.1146C>T (p.Tyr382=) rs1555145605
NM_001360.3(DHCR7):c.1156G>C (p.Asp386His)
NM_001360.3(DHCR7):c.1161G>A (p.Gly387=)
NM_001360.3(DHCR7):c.1161G>T (p.Gly387=)
NM_001360.3(DHCR7):c.1167G>A (p.Arg389=) rs1258190343
NM_001360.3(DHCR7):c.1170C>T (p.His390=) rs2135939762
NM_001360.3(DHCR7):c.1172A>C (p.His391Pro)
NM_001360.3(DHCR7):c.1173C>T (p.His391=) rs2135939758
NM_001360.3(DHCR7):c.1176C>T (p.Ser392=)
NM_001360.3(DHCR7):c.117A>C (p.Ser39=) rs1464844855
NM_001360.3(DHCR7):c.1182G>A (p.Leu394=) rs2135939745
NM_001360.3(DHCR7):c.1188G>A (p.Val396=) rs1468084166
NM_001360.3(DHCR7):c.1190C>T (p.Ser397Leu) rs773134475
NM_001360.3(DHCR7):c.1191G>A (p.Ser397=) rs767847651
NM_001360.3(DHCR7):c.1191G>C (p.Ser397=) rs767847651
NM_001360.3(DHCR7):c.1194C>T (p.Gly398=)
NM_001360.3(DHCR7):c.1204G>A (p.Val402Met)
NM_001360.3(DHCR7):c.1209C>T (p.Ala403=) rs1321822921
NM_001360.3(DHCR7):c.1210C>A (p.Arg404Ser) rs61757582
NM_001360.3(DHCR7):c.1210C>G (p.Arg404Gly) rs61757582
NM_001360.3(DHCR7):c.1210del (p.Arg404fs)
NM_001360.3(DHCR7):c.1211G>A (p.Arg404His) rs1949268223
NM_001360.3(DHCR7):c.1211G>T (p.Arg404Leu)
NM_001360.3(DHCR7):c.1212C>T (p.Arg404=)
NM_001360.3(DHCR7):c.1214del (p.His405fs)
NM_001360.3(DHCR7):c.1215C>G (p.His405Gln)
NM_001360.3(DHCR7):c.1218C>G (p.Phe406Leu) rs1949268068
NM_001360.3(DHCR7):c.121G>C (p.Ala41Pro)
NM_001360.3(DHCR7):c.1223A>T (p.Tyr408Phe) rs1219026826
NM_001360.3(DHCR7):c.1224C>G (p.Tyr408Ter)
NM_001360.3(DHCR7):c.1228G>C (p.Gly410Arg) rs80338862
NM_001360.3(DHCR7):c.1230C>T (p.Gly410=)
NM_001360.3(DHCR7):c.1234C>T (p.Leu412=) rs1591107212
NM_001360.3(DHCR7):c.1236G>C (p.Leu412=)
NM_001360.3(DHCR7):c.123G>T (p.Ala41=)
NM_001360.3(DHCR7):c.1242C>T (p.Gly414=) rs2135939651
NM_001360.3(DHCR7):c.1254C>T (p.Tyr418=) rs1949267339
NM_001360.3(DHCR7):c.1260G>A (p.Leu420=)
NM_001360.3(DHCR7):c.1269C>A (p.Gly423=) rs145374203
NM_001360.3(DHCR7):c.1270G>A (p.Gly424Ser) rs368150818
NM_001360.3(DHCR7):c.1270G>T (p.Gly424Cys)
NM_001360.3(DHCR7):c.1273G>A (p.Gly425Ser) rs760242
NM_001360.3(DHCR7):c.1278C>T (p.His426=) rs770971876
NM_001360.3(DHCR7):c.1284G>C (p.Leu428=)
NM_001360.3(DHCR7):c.1287C>T (p.Pro429=) rs2135939588
NM_001360.3(DHCR7):c.1290C>G (p.Tyr430Ter) rs140791666
NM_001360.3(DHCR7):c.1290C>T (p.Tyr430=) rs140791666
NM_001360.3(DHCR7):c.1293_1307del (p.Phe431_Met436delinsLeu)
NM_001360.3(DHCR7):c.1294T>C (p.Tyr432His) rs747656720
NM_001360.3(DHCR7):c.1295A>G (p.Tyr432Cys) rs1565584679
NM_001360.3(DHCR7):c.1299C>T (p.Ile433=) rs1385048868
NM_001360.3(DHCR7):c.129C>T (p.Val43=)
NM_001360.3(DHCR7):c.12A>G (p.Lys4=) rs757934834
NM_001360.3(DHCR7):c.1305C>T (p.Tyr435=)
NM_001360.3(DHCR7):c.1314C>T (p.Ile438=) rs778750039
NM_001360.3(DHCR7):c.1315C>T (p.Leu439=) rs2135939551
NM_001360.3(DHCR7):c.1318C>T (p.Leu440=) rs1381722107
NM_001360.3(DHCR7):c.1321A>G (p.Thr441Ala) rs749728888
NM_001360.3(DHCR7):c.1323C>T (p.Thr441=)
NM_001360.3(DHCR7):c.1324C>G (p.His442Asp) rs2135939533
NM_001360.3(DHCR7):c.1325A>G (p.His442Arg) rs1949265616
NM_001360.3(DHCR7):c.1326C>T (p.His442=)
NM_001360.3(DHCR7):c.1328G>A (p.Arg443His) rs781687341
NM_001360.3(DHCR7):c.1328G>C (p.Arg443Pro) rs781687341
NM_001360.3(DHCR7):c.1334_1336dup (p.Leu445dup) rs766416330
NM_001360.3(DHCR7):c.1337G>C (p.Arg446Pro) rs751604696
NM_001360.3(DHCR7):c.1342G>C (p.Glu448Gln) rs80338864
NM_001360.3(DHCR7):c.1347C>T (p.His449=) rs963669095
NM_001360.3(DHCR7):c.1348C>T (p.Arg450Cys)
NM_001360.3(DHCR7):c.1348del (p.Arg450fs) rs886042362
NM_001360.3(DHCR7):c.1349_1350delinsTG (p.Arg450Leu) rs1591107040
NM_001360.3(DHCR7):c.1351T>C (p.Cys451Arg)
NM_001360.3(DHCR7):c.1352G>T (p.Cys451Phe)
NM_001360.3(DHCR7):c.1356C>T (p.Ala452=)
NM_001360.3(DHCR7):c.1359C>T (p.Ser453=)
NM_001360.3(DHCR7):c.1360A>T (p.Lys454Ter) rs2135939478
NM_001360.3(DHCR7):c.1364A>T (p.Tyr455Phe) rs1949264089
NM_001360.3(DHCR7):c.1365C>A (p.Tyr455Ter)
NM_001360.3(DHCR7):c.1373A>G (p.Asp458Gly)
NM_001360.3(DHCR7):c.1376G>A (p.Trp459Ter) rs1555145550
NM_001360.3(DHCR7):c.1379A>G (p.Glu460Gly)
NM_001360.3(DHCR7):c.1384T>C (p.Tyr462His) rs201270451
NM_001360.3(DHCR7):c.1385A>G (p.Tyr462Cys)
NM_001360.3(DHCR7):c.1386C>T (p.Tyr462=)
NM_001360.3(DHCR7):c.138A>G (p.Leu46=)
NM_001360.3(DHCR7):c.138A>T (p.Leu46=) rs2120355030
NM_001360.3(DHCR7):c.1393G>T (p.Ala465Ser)
NM_001360.3(DHCR7):c.1395A>T (p.Ala465=)
NM_001360.3(DHCR7):c.1397T>C (p.Val466Ala)
NM_001360.3(DHCR7):c.1398G>A (p.Val466=) rs2135939416
NM_001360.3(DHCR7):c.1399C>T (p.Pro467Ser)
NM_001360.3(DHCR7):c.1404C>G (p.Tyr468Ter)
NM_001360.3(DHCR7):c.1406G>C (p.Arg469Pro) rs201150384
NM_001360.3(DHCR7):c.1407C>T (p.Arg469=)
NM_001360.3(DHCR7):c.1408C>T (p.Leu470=) rs1323783706
NM_001360.3(DHCR7):c.1413G>A (p.Leu471=) rs1466027170
NM_001360.3(DHCR7):c.1416T>A (p.Pro472=)
NM_001360.3(DHCR7):c.1416T>G (p.Pro472=) rs2135939380
NM_001360.3(DHCR7):c.1419A>T (p.Gly473=)
NM_001360.3(DHCR7):c.148G>A (p.Ala50Thr)
NM_001360.3(DHCR7):c.14C>G (p.Ser5Trp)
NM_001360.3(DHCR7):c.14C>T (p.Ser5Leu) rs1127869
NM_001360.3(DHCR7):c.150C>T (p.Ala50=) rs540098203
NM_001360.3(DHCR7):c.152C>T (p.Pro51Leu)
NM_001360.3(DHCR7):c.162C>T (p.Val54=) rs755869989
NM_001360.3(DHCR7):c.165C>T (p.Tyr55=) rs374941029
NM_001360.3(DHCR7):c.16C>T (p.Gln6Ter) rs1057516977
NM_001360.3(DHCR7):c.174C>T (p.Ile58=)
NM_001360.3(DHCR7):c.186C>T (p.Asp62=)
NM_001360.3(DHCR7):c.187C>T (p.Gln63Ter)
NM_001360.3(DHCR7):c.187del (p.Gln63fs)
NM_001360.3(DHCR7):c.18A>G (p.Gln6=)
NM_001360.3(DHCR7):c.192C>T (p.Tyr64=)
NM_001360.3(DHCR7):c.201C>T (p.Ala67=)
NM_001360.3(DHCR7):c.207_208delinsCC (p.Gly70Arg) rs2120355002
NM_001360.3(DHCR7):c.207_208inv (p.Gly70Ser)
NM_001360.3(DHCR7):c.210C>T (p.Gly70=) rs747544280
NM_001360.3(DHCR7):c.213T>C (p.Pro71=) rs1418528138
NM_001360.3(DHCR7):c.21C>A (p.Pro7=)
NM_001360.3(DHCR7):c.21C>G (p.Pro7=) rs766817989
NM_001360.3(DHCR7):c.21C>T (p.Pro7=) rs766817989
NM_001360.3(DHCR7):c.220G>A (p.Asp74Asn)
NM_001360.3(DHCR7):c.228C>T (p.Val76=) rs2135947126
NM_001360.3(DHCR7):c.230C>T (p.Thr77Ile)
NM_001360.3(DHCR7):c.231C>G (p.Thr77=) rs4316537
NM_001360.3(DHCR7):c.237T>C (p.His79=) rs1316013264
NM_001360.3(DHCR7):c.246C>G (p.Leu82=) rs2135947085
NM_001360.3(DHCR7):c.248C>A (p.Ser83Ter)
NM_001360.3(DHCR7):c.249G>A (p.Ser83=)
NM_001360.3(DHCR7):c.266del (p.Thr89fs)
NM_001360.3(DHCR7):c.267T>C (p.Thr89=)
NM_001360.3(DHCR7):c.270A>G (p.Pro90=)
NM_001360.3(DHCR7):c.273T>A (p.Pro91=) rs772671149
NM_001360.3(DHCR7):c.278C>A (p.Thr93Lys)
NM_001360.3(DHCR7):c.282G>A (p.Arg94=) rs541593878
NM_001360.3(DHCR7):c.296T>C (p.Leu99Pro) rs104886041
NM_001360.3(DHCR7):c.297C>T (p.Leu99=)
NM_001360.3(DHCR7):c.299A>G (p.Tyr100Cys)
NM_001360.3(DHCR7):c.304T>C (p.Leu102=) rs1591113264
NM_001360.3(DHCR7):c.30C>G (p.Pro10=) rs775421040
NM_001360.3(DHCR7):c.315C>T (p.Thr105=)
NM_001360.3(DHCR7):c.321+11C>T
NM_001360.3(DHCR7):c.321+15C>T
NM_001360.3(DHCR7):c.321+19G>A
NM_001360.3(DHCR7):c.321+8G>T rs2135946938
NM_001360.3(DHCR7):c.321+8del rs2135946943
NM_001360.3(DHCR7):c.321+9C>T rs1591113228
NM_001360.3(DHCR7):c.322-13T>C
NM_001360.3(DHCR7):c.322-15G>A
NM_001360.3(DHCR7):c.322-17C>A
NM_001360.3(DHCR7):c.322-18G>A
NM_001360.3(DHCR7):c.322-18G>T
NM_001360.3(DHCR7):c.322-1G>A rs1565588719
NM_001360.3(DHCR7):c.322-1G>C rs1565588719
NM_001360.3(DHCR7):c.322-1_334del
NM_001360.3(DHCR7):c.322-9G>A rs2135945639
NM_001360.3(DHCR7):c.327T>C (p.Leu109=)
NM_001360.3(DHCR7):c.330G>A (p.Leu110=)
NM_001360.3(DHCR7):c.330G>C (p.Leu110=) rs2135945611
NM_001360.3(DHCR7):c.335C>T (p.Thr112Met)
NM_001360.3(DHCR7):c.33A>G (p.Lys11=)
NM_001360.3(DHCR7):c.348C>T (p.Asp116=) rs373808237
NM_001360.3(DHCR7):c.353G>A (p.Cys118Tyr)
NM_001360.3(DHCR7):c.354C>T (p.Cys118=) rs1377670887
NM_001360.3(DHCR7):c.355del (p.His119fs) rs747827699
NM_001360.3(DHCR7):c.356A>G (p.His119Arg) rs28938174
NM_001360.3(DHCR7):c.356A>T (p.His119Leu) rs28938174
NM_001360.3(DHCR7):c.359_374del (p.Lys120fs)
NM_001360.3(DHCR7):c.360G>A (p.Lys120=)
NM_001360.3(DHCR7):c.369C>A (p.Pro123=)
NM_001360.3(DHCR7):c.369C>G (p.Pro123=) rs373452254
NM_001360.3(DHCR7):c.369C>T (p.Pro123=) rs373452254
NM_001360.3(DHCR7):c.36C>T (p.Ala12=) rs2120355292
NM_001360.3(DHCR7):c.373T>C (p.Tyr125His)
NM_001360.3(DHCR7):c.374A>G (p.Tyr125Cys) rs2135945513
NM_001360.3(DHCR7):c.375C>A (p.Tyr125Ter)
NM_001360.3(DHCR7):c.375C>G (p.Tyr125Ter)
NM_001360.3(DHCR7):c.378A>G (p.Val126=)
NM_001360.3(DHCR7):c.37A>G (p.Lys13Glu)
NM_001360.3(DHCR7):c.381A>G (p.Gly127=)
NM_001360.3(DHCR7):c.385_412+5del rs746482788
NM_001360.3(DHCR7):c.388C>T (p.Gln130Ter) rs1949357136
NM_001360.3(DHCR7):c.393G>A (p.Glu131=) rs2135945482
NM_001360.3(DHCR7):c.412+10T>G rs2135945434
NM_001360.3(DHCR7):c.412+16C>T
NM_001360.3(DHCR7):c.412+17C>T
NM_001360.3(DHCR7):c.412+19C>T
NM_001360.3(DHCR7):c.412+20C>G
NM_001360.3(DHCR7):c.412+2T>C
NM_001360.3(DHCR7):c.412+3A>G rs786200926
NM_001360.3(DHCR7):c.412+8C>T
NM_001360.3(DHCR7):c.412+9C>T rs2135945436
NM_001360.3(DHCR7):c.413-12C>T
NM_001360.3(DHCR7):c.413-17G>C
NM_001360.3(DHCR7):c.413-18T>C
NM_001360.3(DHCR7):c.413-19C>T
NM_001360.3(DHCR7):c.413-6C>A
NM_001360.3(DHCR7):c.413-8A>G
NM_001360.3(DHCR7):c.413-8A>T
NM_001360.3(DHCR7):c.415G>C (p.Val139Leu)
NM_001360.3(DHCR7):c.42T>C (p.Ser14=) rs2120355286
NM_001360.3(DHCR7):c.433A>C (p.Ile145Leu) rs1555146475
NM_001360.3(DHCR7):c.435C>A (p.Ile145=)
NM_001360.3(DHCR7):c.438T>G (p.Asn146Lys) rs949177
NM_001360.3(DHCR7):c.438_439inv (p.Gly147Ser)
NM_001360.3(DHCR7):c.444G>A (p.Leu148=)
NM_001360.3(DHCR7):c.44T>C (p.Leu15Pro) rs1949390350
NM_001360.3(DHCR7):c.450C>A (p.Ala150=)
NM_001360.3(DHCR7):c.461C>T (p.Thr154Met) rs143312232
NM_001360.3(DHCR7):c.462G>A (p.Thr154=) rs1203189676
NM_001360.3(DHCR7):c.462G>T (p.Thr154=) rs1203189676
NM_001360.3(DHCR7):c.465C>T (p.His155=) rs1949346657
NM_001360.3(DHCR7):c.471C>G (p.Leu157=)
NM_001360.3(DHCR7):c.474G>A (p.Trp158Ter)
NM_001360.3(DHCR7):c.475T>C (p.Phe159Leu)
NM_001360.3(DHCR7):c.480A>G (p.Ala160=) rs2135944718
NM_001360.3(DHCR7):c.486T>C (p.Ala162=)
NM_001360.3(DHCR7):c.486T>G (p.Ala162=)
NM_001360.3(DHCR7):c.488A>G (p.His163Arg)
NM_001360.3(DHCR7):c.48_78del (p.Asp16fs)
NM_001360.3(DHCR7):c.492C>G (p.Leu164=) rs759538408
NM_001360.3(DHCR7):c.492C>T (p.Leu164=) rs759538408
NM_001360.3(DHCR7):c.496T>G (p.Ser166Ala)
NM_001360.3(DHCR7):c.507G>T (p.Ser169=)
NM_001360.3(DHCR7):c.533T>A (p.Ile178Asn)
NM_001360.3(DHCR7):c.534C>T (p.Ile178=) rs1349721227
NM_001360.3(DHCR7):c.537A>G (p.Pro179=)
NM_001360.3(DHCR7):c.543GTG[1] (p.Trp182del)
NM_001360.3(DHCR7):c.546G>C (p.Trp182Cys)
NM_001360.3(DHCR7):c.546G>T (p.Trp182Cys)
NM_001360.3(DHCR7):c.548G>A (p.Cys183Tyr) rs2135944619
NM_001360.3(DHCR7):c.550G>A (p.Ala184Thr)
NM_001360.3(DHCR7):c.552C>T (p.Ala184=)
NM_001360.3(DHCR7):c.555C>T (p.Asn185=)
NM_001360.3(DHCR7):c.570C>G (p.Ala190=) rs74909468
NM_001360.3(DHCR7):c.573C>G (p.Val191=) rs2135944579
NM_001360.3(DHCR7):c.573C>T (p.Val191=)
NM_001360.3(DHCR7):c.575C>T (p.Ser192Phe) rs766299724
NM_001360.3(DHCR7):c.576C>T (p.Ser192=) rs760123718
NM_001360.3(DHCR7):c.578C>G (p.Thr193Ser)
NM_001360.3(DHCR7):c.585C>T (p.Ala195=) rs2135944558
NM_001360.3(DHCR7):c.600C>G (p.Tyr200Ter) rs2135944550
NM_001360.3(DHCR7):c.609C>T (p.Pro203=)
NM_001360.3(DHCR7):c.612C>T (p.Thr204=)
NM_001360.3(DHCR7):c.624C>T (p.Asp208=)
NM_001360.3(DHCR7):c.626+14A>T
NM_001360.3(DHCR7):c.626+16C>A
NM_001360.3(DHCR7):c.626+16C>T
NM_001360.3(DHCR7):c.626+17G>A
NM_001360.3(DHCR7):c.626+18G>T
NM_001360.3(DHCR7):c.626+19G>T
NM_001360.3(DHCR7):c.626+2del
NM_001360.3(DHCR7):c.626+3A>G
NM_001360.3(DHCR7):c.626+8C>T
NM_001360.3(DHCR7):c.627-11A>C
NM_001360.3(DHCR7):c.627-14T>C
NM_001360.3(DHCR7):c.627-15A>C
NM_001360.3(DHCR7):c.627-15A>G
NM_001360.3(DHCR7):c.627-17T>A
NM_001360.3(DHCR7):c.627-17T>G
NM_001360.3(DHCR7):c.627-20C>G
NM_001360.3(DHCR7):c.627-4T>A rs1300133134
NM_001360.3(DHCR7):c.627-9A>G rs2135942933
NM_001360.3(DHCR7):c.634del (p.Thr212fs) rs1565586916
NM_001360.3(DHCR7):c.636A>G (p.Thr212=)
NM_001360.3(DHCR7):c.636A>T (p.Thr212=)
NM_001360.3(DHCR7):c.644_659del (p.Asn214_Phe215insTer) rs2135942891
NM_001360.3(DHCR7):c.646T>G (p.Phe216Val)
NM_001360.3(DHCR7):c.651C>G (p.Tyr217Ter)
NM_001360.3(DHCR7):c.654C>A (p.Asn218Lys) rs1949321790
NM_001360.3(DHCR7):c.657C>T (p.Tyr219=)
NM_001360.3(DHCR7):c.658A>G (p.Met220Val)
NM_001360.3(DHCR7):c.660G>C (p.Met220Ile) rs767377692
NM_001360.3(DHCR7):c.660G>T (p.Met220Ile)
NM_001360.3(DHCR7):c.661A>G (p.Met221Val)
NM_001360.3(DHCR7):c.676A>G (p.Asn226Asp)
NM_001360.3(DHCR7):c.683G>A (p.Arg228Gln)
NM_001360.3(DHCR7):c.687C>G (p.Ile229Met) rs267603172
NM_001360.3(DHCR7):c.687C>T (p.Ile229=) rs267603172
NM_001360.3(DHCR7):c.694T>C (p.Trp232Arg)
NM_001360.3(DHCR7):c.695_701dup (p.Asp234delinsGluValTer)
NM_001360.3(DHCR7):c.696G>A (p.Trp232Ter) rs1591109892
NM_001360.3(DHCR7):c.69C>A (p.Thr23=)
NM_001360.3(DHCR7):c.704T>C (p.Phe235Ser) rs1555146061
NM_001360.3(DHCR7):c.705C>T (p.Phe235=)
NM_001360.3(DHCR7):c.708G>A (p.Lys236=)
NM_001360.3(DHCR7):c.70G>T (p.Ala24Ser) rs146867923
NM_001360.3(DHCR7):c.711G>A (p.Leu237=)
NM_001360.3(DHCR7):c.711G>T (p.Leu237=)
NM_001360.3(DHCR7):c.717C>T (p.Phe239=)
NM_001360.3(DHCR7):c.720_735del (p.Asn240fs)
NM_001360.3(DHCR7):c.723G>A (p.Gly241=)
NM_001360.3(DHCR7):c.725G>C (p.Arg242Pro)
NM_001360.3(DHCR7):c.725G>T (p.Arg242Leu)
NM_001360.3(DHCR7):c.726C>T (p.Arg242=) rs1289838516
NM_001360.3(DHCR7):c.730G>A (p.Gly244Arg) rs121909764
NM_001360.3(DHCR7):c.735C>A (p.Ile245=) rs12800
NM_001360.3(DHCR7):c.739G>A (p.Ala247Thr) rs767031102
NM_001360.3(DHCR7):c.739G>T (p.Ala247Ser) rs767031102
NM_001360.3(DHCR7):c.740C>T (p.Ala247Val) rs886041354
NM_001360.3(DHCR7):c.744G>A (p.Trp248Ter) rs104894212
NM_001360.3(DHCR7):c.747C>G (p.Thr249=) rs2135942748
NM_001360.3(DHCR7):c.748del (p.Leu250fs)
NM_001360.3(DHCR7):c.750C>G (p.Leu250=) rs2135942744
NM_001360.3(DHCR7):c.753C>T (p.Ile251=) rs1949319705
NM_001360.3(DHCR7):c.757C>T (p.Leu253=)
NM_001360.3(DHCR7):c.762C>T (p.Ser254=)
NM_001360.3(DHCR7):c.766G>T (p.Ala256Ser) rs772639348
NM_001360.3(DHCR7):c.768A>G (p.Ala256=)
NM_001360.3(DHCR7):c.76C>T (p.Gln26Ter)
NM_001360.3(DHCR7):c.770C>G (p.Ala257Gly)
NM_001360.3(DHCR7):c.774G>A (p.Lys258=)
NM_001360.3(DHCR7):c.778C>A (p.Arg260=) rs777617141
NM_001360.3(DHCR7):c.779G>A (p.Arg260Gln)
NM_001360.3(DHCR7):c.782A>G (p.Glu261Gly) rs1406131499
NM_001360.3(DHCR7):c.789C>T (p.His263=) rs754320411
NM_001360.3(DHCR7):c.791G>A (p.Ser264Asn)
NM_001360.3(DHCR7):c.803del (p.Asn268fs) rs1555146023
NM_001360.3(DHCR7):c.804T>C (p.Asn268=)
NM_001360.3(DHCR7):c.807C>A (p.Ala269=)
NM_001360.3(DHCR7):c.808A>G (p.Met270Val) rs1555146021
NM_001360.3(DHCR7):c.814C>T (p.Leu272=)
NM_001360.3(DHCR7):c.816G>T (p.Leu272=)
NM_001360.3(DHCR7):c.817G>A (p.Val273Ile)
NM_001360.3(DHCR7):c.818T>G (p.Val273Gly)
NM_001360.3(DHCR7):c.820_825del (p.Asn274_Val275del) rs757697462
NM_001360.3(DHCR7):c.821A>C (p.Asn274Thr) rs774275482
NM_001360.3(DHCR7):c.822C>A (p.Asn274Lys) rs139787408
NM_001360.3(DHCR7):c.825C>T (p.Val275=)
NM_001360.3(DHCR7):c.831+13G>A
NM_001360.3(DHCR7):c.831+14C>T
NM_001360.3(DHCR7):c.831+15T>C
NM_001360.3(DHCR7):c.832-14C>T
NM_001360.3(DHCR7):c.832-15G>A
NM_001360.3(DHCR7):c.832-17C>A
NM_001360.3(DHCR7):c.832-19G>A
NM_001360.3(DHCR7):c.832-20C>T
NM_001360.3(DHCR7):c.832-4G>A rs757845039
NM_001360.3(DHCR7):c.832-4G>T rs757845039
NM_001360.3(DHCR7):c.832-7C>G rs781410864
NM_001360.3(DHCR7):c.832-7C>T
NM_001360.3(DHCR7):c.832-9G>A rs2135941963
NM_001360.3(DHCR7):c.835A>G (p.Ile279Val)
NM_001360.3(DHCR7):c.837C>T (p.Ile279=) rs1949304955
NM_001360.3(DHCR7):c.838T>G (p.Tyr280Asp)
NM_001360.3(DHCR7):c.839A>G (p.Tyr280Cys) rs121909766
NM_001360.3(DHCR7):c.849C>T (p.Asp283=)
NM_001360.3(DHCR7):c.851TCT[1] (p.Phe285del)
NM_001360.3(DHCR7):c.852C>A (p.Phe284Leu) rs184297154
NM_001360.3(DHCR7):c.858G>T (p.Trp286Cys)
NM_001360.3(DHCR7):c.861C>T (p.Asn287=) rs766495775
NM_001360.3(DHCR7):c.862G>T (p.Glu288Ter)
NM_001360.3(DHCR7):c.874C>T (p.Leu292=)
NM_001360.3(DHCR7):c.874del (p.Tyr291_Leu292insTer) rs1555145874
NM_001360.3(DHCR7):c.876G>A (p.Leu292=)
NM_001360.3(DHCR7):c.877A>T (p.Lys293Ter)
NM_001360.3(DHCR7):c.879G>A (p.Lys293=) rs1001301126
NM_001360.3(DHCR7):c.882C>A (p.Thr294=) rs748858240
NM_001360.3(DHCR7):c.88G>A (p.Gly30Ser)
NM_001360.3(DHCR7):c.891C>T (p.Ile297=) rs2135941843
NM_001360.3(DHCR7):c.89G>A (p.Gly30Asp)
NM_001360.3(DHCR7):c.89del (p.Gly30fs) rs1949389544
NM_001360.3(DHCR7):c.901C>A (p.His301Asn)
NM_001360.3(DHCR7):c.902A>G (p.His301Arg) rs1565586067
NM_001360.3(DHCR7):c.903C>T (p.His301=) rs1949302945
NM_001360.3(DHCR7):c.904T>G (p.Phe302Val)
NM_001360.3(DHCR7):c.906C>G (p.Phe302Leu) rs80338858
NM_001360.3(DHCR7):c.906C>T (p.Phe302=) rs80338858
NM_001360.3(DHCR7):c.907G>C (p.Gly303Arg)
NM_001360.3(DHCR7):c.907G>T (p.Gly303Trp) rs142808899
NM_001360.3(DHCR7):c.908G>A (p.Gly303Glu)
NM_001360.3(DHCR7):c.909G>T (p.Gly303=) rs2135941816
NM_001360.3(DHCR7):c.90C>A (p.Gly30=) rs2120355252
NM_001360.3(DHCR7):c.90C>T (p.Gly30=) rs2120355252
NM_001360.3(DHCR7):c.915C>G (p.Tyr305Ter) rs1555145867
NM_001360.3(DHCR7):c.915C>T (p.Tyr305=) rs1555145867
NM_001360.3(DHCR7):c.91C>T (p.Arg31Cys) rs367585401
NM_001360.3(DHCR7):c.925G>A (p.Gly309Ser) rs2135941811
NM_001360.3(DHCR7):c.926G>A (p.Gly309Asp)
NM_001360.3(DHCR7):c.927C>T (p.Gly309=)
NM_001360.3(DHCR7):c.928G>A (p.Asp310Asn)
NM_001360.3(DHCR7):c.930C>T (p.Asp310=)
NM_001360.3(DHCR7):c.936C>G (p.Val312=)
NM_001360.3(DHCR7):c.938G>A (p.Trp313Ter)
NM_001360.3(DHCR7):c.939G>A (p.Trp313Ter) rs1555145862
NM_001360.3(DHCR7):c.939G>C (p.Trp313Cys) rs1555145862
NM_001360.3(DHCR7):c.942G>A (p.Leu314=)
NM_001360.3(DHCR7):c.949del (p.Leu317fs) rs2135941775
NM_001360.3(DHCR7):c.952T>A (p.Tyr318Asn) rs1177326550
NM_001360.3(DHCR7):c.952T>C (p.Tyr318His)
NM_001360.3(DHCR7):c.952del (p.Tyr318fs) rs1555145859
NM_001360.3(DHCR7):c.953A>G (p.Tyr318Cys) rs1457166572
NM_001360.3(DHCR7):c.957G>T (p.Thr319=) rs200157761
NM_001360.3(DHCR7):c.958C>T (p.Leu320=) rs2135941747
NM_001360.3(DHCR7):c.960G>T (p.Leu320=) rs2135941742
NM_001360.3(DHCR7):c.963+14C>A
NM_001360.3(DHCR7):c.963+16G>T
NM_001360.3(DHCR7):c.963+19C>T
NM_001360.3(DHCR7):c.963+2T>G rs1057517070
NM_001360.3(DHCR7):c.963+9G>T rs759043350
NM_001360.3(DHCR7):c.964-12C>G
NM_001360.3(DHCR7):c.964-13C>G
NM_001360.3(DHCR7):c.964-14C>G
NM_001360.3(DHCR7):c.964-15C>G
NM_001360.3(DHCR7):c.964-16C>G
NM_001360.3(DHCR7):c.964-16C>T
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001360.3(DHCR7):c.964-1G>T rs138659167
NM_001360.3(DHCR7):c.964-23_964-20dup
NM_001360.3(DHCR7):c.964-2A>C
NM_001360.3(DHCR7):c.964-5C>G
NM_001360.3(DHCR7):c.964-7C>A
NM_001360.3(DHCR7):c.964-7C>G
NM_001360.3(DHCR7):c.964-7C>T
NM_001360.3(DHCR7):c.964-8dup rs1305056733
NM_001360.3(DHCR7):c.969_970del (p.Tyr324fs) rs2135940147
NM_001360.3(DHCR7):c.970T>C (p.Tyr324His) rs1173707321
NM_001360.3(DHCR7):c.977T>G (p.Val326Gly) rs1333822866
NM_001360.3(DHCR7):c.978G>A (p.Val326=)
NM_001360.3(DHCR7):c.98+12G>T
NM_001360.3(DHCR7):c.98+16G>A
NM_001360.3(DHCR7):c.98+19C>T
NM_001360.3(DHCR7):c.98+1G>T
NM_001360.3(DHCR7):c.98+2T>C
NM_001360.3(DHCR7):c.98+2_98+6del rs1301873688
NM_001360.3(DHCR7):c.98+7A>C
NM_001360.3(DHCR7):c.98+9C>T rs2120355238
NM_001360.3(DHCR7):c.986C>T (p.Pro329Leu)
NM_001360.3(DHCR7):c.987C>A (p.Pro329=)
NM_001360.3(DHCR7):c.987C>G (p.Pro329=) rs145901607
NM_001360.3(DHCR7):c.99-11C>G
NM_001360.3(DHCR7):c.99-12C>T
NM_001360.3(DHCR7):c.99-14A>T
NM_001360.3(DHCR7):c.99-17T>C
NM_001360.3(DHCR7):c.99-19C>A
NM_001360.3(DHCR7):c.99-20G>A
NM_001360.3(DHCR7):c.99-4G>T
NM_001360.3(DHCR7):c.99-8C>T
NM_001360.3(DHCR7):c.990G>A (p.Val330=) rs2135940099
NM_001360.3(DHCR7):c.991C>T (p.Gln331Ter) rs1057516610
NM_001360.3(DHCR7):c.996G>A (p.Leu332=)
NM_001360.3(DHCR7):c.996G>C (p.Leu332=)
NM_001360.3(DHCR7):c.999C>T (p.Ser333=)
NM_001360.3(DHCR7):c.9A>G (p.Ala3=) rs2120355320
NM_002641.4(PIGA):c.1022C>T (p.Pro341Leu) rs2147717491
NM_002641.4(PIGA):c.1027A>G (p.Asn343Asp)
NM_002641.4(PIGA):c.1028del (p.Asn343fs)
NM_002641.4(PIGA):c.1048C>T (p.Pro350Ser) rs372966902
NM_002641.4(PIGA):c.1062T>C (p.Ser354=)
NM_002641.4(PIGA):c.1063T>A (p.Leu355Met)
NM_002641.4(PIGA):c.1065G>T (p.Leu355Phe)
NM_002641.4(PIGA):c.1087A>G (p.Ile363Val)
NM_002641.4(PIGA):c.1095A>G (p.Gln365=) rs1555944375
NM_002641.4(PIGA):c.112G>A (p.Val38Ile) rs1555945533
NM_002641.4(PIGA):c.1131C>G (p.Ile377Met) rs2147717377
NM_002641.4(PIGA):c.1131_1139del (p.His378_Ile380del) rs1921919751
NM_002641.4(PIGA):c.1135A>G (p.Asn379Asp)
NM_002641.4(PIGA):c.1143A>G (p.Val381=)
NM_002641.4(PIGA):c.1149T>C (p.Thr383=)
NM_002641.4(PIGA):c.1159T>A (p.Trp387Arg) rs2147717335
NM_002641.4(PIGA):c.1183G>A (p.Glu395Lys) rs1060499666
NM_002641.4(PIGA):c.1184A>G (p.Glu395Gly) rs1921917016
NM_002641.4(PIGA):c.1185A>G (p.Glu395=) rs1234870253
NM_002641.4(PIGA):c.1188+14T>A
NM_002641.4(PIGA):c.1188+20A>G
NM_002641.4(PIGA):c.1188+3A>G
NM_002641.4(PIGA):c.1189-17G>T
NM_002641.4(PIGA):c.1200G>A (p.Arg400=)
NM_002641.4(PIGA):c.1201G>A (p.Val401Ile) rs759697480
NM_002641.4(PIGA):c.1201G>C (p.Val401Leu) rs759697480
NM_002641.4(PIGA):c.1213G>C (p.Ala405Pro)
NM_002641.4(PIGA):c.1219T>C (p.Leu407=)
NM_002641.4(PIGA):c.1225A>G (p.Met409Val) rs1921823118
NM_002641.4(PIGA):c.1234C>T (p.Arg412Ter) rs387906726
NM_002641.4(PIGA):c.1235G>A (p.Arg412Gln) rs1602206653
NM_002641.4(PIGA):c.1293G>A (p.Leu431=)
NM_002641.4(PIGA):c.1311C>T (p.Leu437=) rs2147714758
NM_002641.4(PIGA):c.1315C>G (p.Leu439Val) rs2147714748
NM_002641.4(PIGA):c.1319T>C (p.Ile440Thr)
NM_002641.4(PIGA):c.132A>G (p.Pro44=)
NM_002641.4(PIGA):c.1348A>G (p.Ile450Val)
NM_002641.4(PIGA):c.1350C>T (p.Ile450=)
NM_002641.4(PIGA):c.1352T>C (p.Ile451Thr) rs2147714706
NM_002641.4(PIGA):c.1354G>A (p.Asp452Asn) rs1921817809
NM_002641.4(PIGA):c.1363A>G (p.Ile455Val)
NM_002641.4(PIGA):c.1369G>A (p.Ala457Thr) rs1440750558
NM_002641.4(PIGA):c.1386T>C (p.Gly462=)
NM_002641.4(PIGA):c.1399_1401del (p.Asn467del)
NM_002641.4(PIGA):c.1426G>A (p.Glu476Lys)
NM_002641.4(PIGA):c.1433A>G (p.Asn478Ser)
NM_002641.4(PIGA):c.144C>T (p.Gly48=) rs1922168318
NM_002641.4(PIGA):c.145G>A (p.Val49Met) rs1569180100
NM_002641.4(PIGA):c.154C>T (p.His52Tyr)
NM_002641.4(PIGA):c.188G>C (p.Arg63Thr)
NM_002641.4(PIGA):c.193C>T (p.His65Tyr) rs1602212285
NM_002641.4(PIGA):c.19G>A (p.Ala7Thr) rs1922178646
NM_002641.4(PIGA):c.215A>G (p.His72Arg) rs1922164501
NM_002641.4(PIGA):c.216T>C (p.His72=)
NM_002641.4(PIGA):c.227A>G (p.Asn76Ser) rs2147723949
NM_002641.4(PIGA):c.236G>A (p.Gly79Asp) rs2147723922
NM_002641.4(PIGA):c.238A>G (p.Ile80Val) rs1922163411
NM_002641.4(PIGA):c.23G>A (p.Gly8Glu) rs1602212451
NM_002641.4(PIGA):c.241C>T (p.Arg81Cys) rs1569180071
NM_002641.4(PIGA):c.242G>A (p.Arg81His) rs1922162801
NM_002641.4(PIGA):c.252C>T (p.Thr84=)
NM_002641.4(PIGA):c.263A>G (p.Lys88Arg)
NM_002641.4(PIGA):c.26A>G (p.Asn9Ser) rs1922178080
NM_002641.4(PIGA):c.272A>G (p.Tyr91Cys)
NM_002641.4(PIGA):c.281T>C (p.Leu94Pro) rs1922159995
NM_002641.4(PIGA):c.289A>C (p.Met97Leu)
NM_002641.4(PIGA):c.291G>T (p.Met97Ile)
NM_002641.4(PIGA):c.296A>G (p.Asn99Ser)
NM_002641.4(PIGA):c.29G>A (p.Gly10Asp) rs1602212448
NM_002641.4(PIGA):c.300G>A (p.Gln100=) rs757482806
NM_002641.4(PIGA):c.301T>G (p.Ser101Ala)
NM_002641.4(PIGA):c.304A>G (p.Thr102Ala)
NM_002641.4(PIGA):c.317T>C (p.Leu106Pro)
NM_002641.4(PIGA):c.322C>A (p.His108Asn) rs1922156380
NM_002641.4(PIGA):c.328C>G (p.Leu110Val)
NM_002641.4(PIGA):c.32A>G (p.His11Arg)
NM_002641.4(PIGA):c.332C>T (p.Pro111Leu) rs2147723769
NM_002641.4(PIGA):c.339C>G (p.Leu113=)
NM_002641.4(PIGA):c.342G>C (p.Arg114Ser)
NM_002641.4(PIGA):c.342G>T (p.Arg114Ser) rs1569180012
NM_002641.4(PIGA):c.348A>G (p.Ile116Met) rs1555945484
NM_002641.4(PIGA):c.34C>T (p.Arg12Cys)
NM_002641.4(PIGA):c.356G>A (p.Arg119Gln)
NM_002641.4(PIGA):c.368C>T (p.Thr123Met) rs1555945480
NM_002641.4(PIGA):c.371T>A (p.Ile124Lys)
NM_002641.4(PIGA):c.387T>C (p.Ser129=) rs2147723733
NM_002641.4(PIGA):c.390T>C (p.Ser130=) rs2147723729
NM_002641.4(PIGA):c.392T>A (p.Phe131Tyr) rs1922155142
NM_002641.4(PIGA):c.399T>C (p.Ala133=) rs2147723722
NM_002641.4(PIGA):c.407A>G (p.His136Arg) rs1602212104
NM_002641.4(PIGA):c.417C>T (p.Leu139=) rs2147723711
NM_002641.4(PIGA):c.420C>T (p.Phe140=) rs760682734
NM_002641.4(PIGA):c.423C>T (p.His141=)
NM_002641.4(PIGA):c.424G>A (p.Ala142Thr) rs1569179995
NM_002641.4(PIGA):c.430A>T (p.Thr144Ser)
NM_002641.4(PIGA):c.433A>G (p.Met145Val) rs1922153772
NM_002641.4(PIGA):c.43G>C (p.Ala15Pro) rs369608621
NM_002641.4(PIGA):c.441T>C (p.Leu147=) rs2147723672
NM_002641.4(PIGA):c.443A>G (p.Gln148Arg)
NM_002641.4(PIGA):c.446C>T (p.Thr149Ile)
NM_002641.4(PIGA):c.447A>G (p.Thr149=)
NM_002641.4(PIGA):c.47C>T (p.Thr16Ile) rs1922176302
NM_002641.4(PIGA):c.481G>T (p.Asp161Tyr) rs1569179975
NM_002641.4(PIGA):c.49C>T (p.Leu17Phe)
NM_002641.4(PIGA):c.4G>A (p.Ala2Thr)
NM_002641.4(PIGA):c.514A>G (p.Thr172Ala) rs375707235
NM_002641.4(PIGA):c.530A>G (p.Asp177Gly)
NM_002641.4(PIGA):c.538C>T (p.His180Tyr) rs1922149677
NM_002641.4(PIGA):c.541A>G (p.Ile181Val)
NM_002641.4(PIGA):c.557A>G (p.Tyr186Cys)
NM_002641.4(PIGA):c.565A>G (p.Lys189Glu) rs1922149379
NM_002641.4(PIGA):c.568G>A (p.Glu190Lys) rs1922149223
NM_002641.4(PIGA):c.56G>A (p.Arg19Gln) rs1555945553
NM_002641.4(PIGA):c.586G>A (p.Ala196Thr)
NM_002641.4(PIGA):c.591A>G (p.Ala197=)
NM_002641.4(PIGA):c.599C>T (p.Pro200Leu) rs1922148351
NM_002641.4(PIGA):c.613G>A (p.Val205Ile) rs1064796260
NM_002641.4(PIGA):c.62G>A (p.Ser21Asn)
NM_002641.4(PIGA):c.640G>C (p.Asp214His) rs1922147618
NM_002641.4(PIGA):c.651A>G (p.Pro217=)
NM_002641.4(PIGA):c.661A>G (p.Arg221Gly) rs1602211939
NM_002641.4(PIGA):c.671A>G (p.Asp224Gly)
NM_002641.4(PIGA):c.676A>G (p.Ile226Val) rs1922146269
NM_002641.4(PIGA):c.677T>C (p.Ile226Thr) rs2147723521
NM_002641.4(PIGA):c.680C>G (p.Thr227Ser) rs767267768
NM_002641.4(PIGA):c.682A>G (p.Ile228Val)
NM_002641.4(PIGA):c.707A>T (p.Tyr236Phe)
NM_002641.4(PIGA):c.715+18A>G
NM_002641.4(PIGA):c.715+7A>C rs1233865208
NM_002641.4(PIGA):c.721G>A (p.Asp241Asn) rs2147718542
NM_002641.4(PIGA):c.732T>C (p.Ser244=)
NM_002641.4(PIGA):c.73C>A (p.Leu25Ile)
NM_002641.4(PIGA):c.744T>G (p.Pro248=) rs2147718511
NM_002641.4(PIGA):c.748C>G (p.Leu250Val)
NM_002641.4(PIGA):c.754C>G (p.Gln252Glu) rs2147718485
NM_002641.4(PIGA):c.783T>G (p.Ile261Met) rs1921959886
NM_002641.4(PIGA):c.789A>T (p.Gly263=)
NM_002641.4(PIGA):c.790G>C (p.Glu264Gln) rs755799077
NM_002641.4(PIGA):c.811T>C (p.Leu271=)
NM_002641.4(PIGA):c.823C>T (p.Arg275Trp) rs1057524256
NM_002641.4(PIGA):c.848+15C>G
NM_002641.4(PIGA):c.848+20T>A
NM_002641.4(PIGA):c.848+20T>C
NM_002641.4(PIGA):c.849-16_849-15del rs2147717767
NM_002641.4(PIGA):c.849-20C>T
NM_002641.4(PIGA):c.852G>T (p.Val284=)
NM_002641.4(PIGA):c.853C>T (p.Arg285Cys) rs1921932909
NM_002641.4(PIGA):c.85A>G (p.Arg29Gly)
NM_002641.4(PIGA):c.864A>T (p.Gly288=)
NM_002641.4(PIGA):c.908A>G (p.His303Arg)
NM_002641.4(PIGA):c.91C>G (p.Arg31Gly)
NM_002641.4(PIGA):c.924C>G (p.Thr308=) rs144162396
NM_002641.4(PIGA):c.930T>C (p.Leu310=)
NM_002641.4(PIGA):c.954C>T (p.Ile318=) rs1353341156
NM_002641.4(PIGA):c.960A>G (p.Glu320=)
NM_002641.4(PIGA):c.968G>A (p.Ser323Asn)
NM_002641.4(PIGA):c.981+11T>A
NM_002641.4(PIGA):c.982-17CTTT[2] rs763470538
NM_002641.4(PIGA):c.982-4T>A rs1555944399
NM_002641.4(PIGA):c.982-4T>G rs1555944399
NM_002641.4(PIGA):c.982-9C>G
NM_002641.4(PIGA):c.982-9del rs1555944408
NM_002641.4(PIGA):c.984T>C (p.Val328=) rs2147717510
NM_002641.4(PIGA):c.98A>G (p.His33Arg) rs797044924
NM_006702.4(PNPLA6):c.3916_3918delGAG rs532776939
NM_022436.3(ABCG5):c.1008T>C (p.His336=)
NM_022436.3(ABCG5):c.1015T>G (p.Leu339Val)
NM_022436.3(ABCG5):c.1043T>C (p.Leu348Pro)
NM_022436.3(ABCG5):c.1082C>G (p.Ser361Cys) rs776365033
NM_022436.3(ABCG5):c.1113C>T (p.Leu371=)
NM_022436.3(ABCG5):c.1118+17T>C
NM_022436.3(ABCG5):c.1118+20G>A
NM_022436.3(ABCG5):c.1119-11T>C
NM_022436.3(ABCG5):c.1119-15del
NM_022436.3(ABCG5):c.1119-8_1119-5del
NM_022436.3(ABCG5):c.1128A>C (p.Thr376=)
NM_022436.3(ABCG5):c.1128A>G (p.Thr376=) rs781466225
NM_022436.3(ABCG5):c.1138del (p.Leu379_Val380insTer) rs755809709
NM_022436.3(ABCG5):c.1146T>C (p.Asn382=)
NM_022436.3(ABCG5):c.1164G>A (p.Thr388=)
NM_022436.3(ABCG5):c.1165C>T (p.Arg389Cys)
NM_022436.3(ABCG5):c.1179T>C (p.Asn393=)
NM_022436.3(ABCG5):c.1180C>A (p.Leu394Met)
NM_022436.3(ABCG5):c.1185C>T (p.Ile395=)
NM_022436.3(ABCG5):c.1188G>C (p.Met396Ile)
NM_022436.3(ABCG5):c.1189G>T (p.Gly397Cys)
NM_022436.3(ABCG5):c.1197C>T (p.Phe399=) rs868540610
NM_022436.3(ABCG5):c.1205T>C (p.Phe402Ser)
NM_022436.3(ABCG5):c.1209C>T (p.Phe403=)
NM_022436.3(ABCG5):c.1213C>T (p.Leu405=)
NM_022436.3(ABCG5):c.1215G>A (p.Leu405=)
NM_022436.3(ABCG5):c.1217G>A (p.Arg406Gln)
NM_022436.3(ABCG5):c.1228A>C (p.Asn410His) rs115590670
NM_022436.3(ABCG5):c.1228A>G (p.Asn410Asp) rs115590670
NM_022436.3(ABCG5):c.1255C>T (p.Arg419Cys) rs771475759
NM_022436.3(ABCG5):c.1259T>G (p.Val420Gly)
NM_022436.3(ABCG5):c.1262G>C (p.Gly421Ala)
NM_022436.3(ABCG5):c.126T>C (p.His42=)
NM_022436.3(ABCG5):c.1271A>C (p.Tyr424Ser)
NM_022436.3(ABCG5):c.1273C>T (p.Gln425Ter)
NM_022436.3(ABCG5):c.1293G>A (p.Pro431=)
NM_022436.3(ABCG5):c.1311C>G (p.Asn437Lys)
NM_022436.3(ABCG5):c.1311C>T (p.Asn437=) rs575266356
NM_022436.3(ABCG5):c.1323_1324+2del rs780744534
NM_022436.3(ABCG5):c.1324+12C>T
NM_022436.3(ABCG5):c.1324+8C>T
NM_022436.3(ABCG5):c.1324_1324+15del
NM_022436.3(ABCG5):c.1325-4C>G
NM_022436.3(ABCG5):c.1325-8A>G rs1667331562
NM_022436.3(ABCG5):c.1327C>T (p.Pro443Ser)
NM_022436.3(ABCG5):c.1329C>T (p.Pro443=)
NM_022436.3(ABCG5):c.1330G>A (p.Val444Met)
NM_022436.3(ABCG5):c.1348G>C (p.Asp450His) rs530616214
NM_022436.3(ABCG5):c.1365C>A (p.Asp455Glu)
NM_022436.3(ABCG5):c.1381T>C (p.Trp461Arg)
NM_022436.3(ABCG5):c.138C>T (p.Ser46=)
NM_022436.3(ABCG5):c.139G>A (p.Val47Ile) rs72542426
NM_022436.3(ABCG5):c.139G>T (p.Val47Phe) rs72542426
NM_022436.3(ABCG5):c.1425C>T (p.Ser475=)
NM_022436.3(ABCG5):c.143+13C>A
NM_022436.3(ABCG5):c.143+7C>T rs746799324
NM_022436.3(ABCG5):c.1437C>T (p.Thr479=)
NM_022436.3(ABCG5):c.144-17T>G
NM_022436.3(ABCG5):c.144-1G>A
NM_022436.3(ABCG5):c.1452T>G (p.Ser484Arg)
NM_022436.3(ABCG5):c.1458C>T (p.Cys486=) rs779676205
NM_022436.3(ABCG5):c.145del (p.His49fs)
NM_022436.3(ABCG5):c.1460A>G (p.Tyr487Cys)
NM_022436.3(ABCG5):c.1463+20A>T
NM_022436.3(ABCG5):c.1464-15C>A
NM_022436.3(ABCG5):c.1464-16G>A
NM_022436.3(ABCG5):c.1464-17A>G
NM_022436.3(ABCG5):c.1488T>G (p.Val496=)
NM_022436.3(ABCG5):c.1514C>A (p.Ala505Asp)
NM_022436.3(ABCG5):c.1527C>T (p.Pro509=)
NM_022436.3(ABCG5):c.1528C>G (p.His510Asp) rs199984328
NM_022436.3(ABCG5):c.1528del (p.His510fs)
NM_022436.3(ABCG5):c.1528dup (p.His510fs)
NM_022436.3(ABCG5):c.1537G>C (p.Gly513Arg) rs1418170362
NM_022436.3(ABCG5):c.153G>A (p.Val51=)
NM_022436.3(ABCG5):c.1573C>T (p.Gln525Ter)
NM_022436.3(ABCG5):c.158C>T (p.Pro53Leu)
NM_022436.3(ABCG5):c.1593C>A (p.Asn531Lys)
NM_022436.3(ABCG5):c.1606C>T (p.Leu536=)
NM_022436.3(ABCG5):c.1620G>A (p.Ala540=) rs145527220
NM_022436.3(ABCG5):c.1621G>T (p.Gly541Trp) rs142109022
NM_022436.3(ABCG5):c.1649+10C>A
NM_022436.3(ABCG5):c.1649+10_1649+12del
NM_022436.3(ABCG5):c.1649+9T>A rs770594428
NM_022436.3(ABCG5):c.1650-14T>C
NM_022436.3(ABCG5):c.1657C>T (p.Gln553Ter)
NM_022436.3(ABCG5):c.1681dup (p.Ile561fs)
NM_022436.3(ABCG5):c.1735G>T (p.Glu579Ter)
NM_022436.3(ABCG5):c.1758T>C (p.Thr586=)
NM_022436.3(ABCG5):c.1762+11T>C
NM_022436.3(ABCG5):c.1762+14T>C
NM_022436.3(ABCG5):c.1762+15T>C
NM_022436.3(ABCG5):c.1763-16A>C
NM_022436.3(ABCG5):c.1763-18C>T
NM_022436.3(ABCG5):c.1763-1G>A
NM_022436.3(ABCG5):c.1770A>T (p.Ser590=)
NM_022436.3(ABCG5):c.1776T>G (p.Val592=)
NM_022436.3(ABCG5):c.177T>C (p.Ser59=) rs1390030417
NM_022436.3(ABCG5):c.1799G>A (p.Cys600Tyr)
NM_022436.3(ABCG5):c.1827T>G (p.Ile609Met)
NM_022436.3(ABCG5):c.1838G>A (p.Cys613Tyr) rs1572735428
NM_022436.3(ABCG5):c.1846G>A (p.Ala616Thr)
NM_022436.3(ABCG5):c.187C>T (p.Gln63Ter)
NM_022436.3(ABCG5):c.1886C>G (p.Ser629Ter) rs772295351
NM_022436.3(ABCG5):c.1890del (p.Phe630fs) rs769429015
NM_022436.3(ABCG5):c.1913G>A (p.Gly638Glu)
NM_022436.3(ABCG5):c.1953G>A (p.Arg651=)
NM_022436.3(ABCG5):c.195C>G (p.Thr65=)
NM_022436.3(ABCG5):c.1A>G (p.Met1Val)
NM_022436.3(ABCG5):c.207C>T (p.Leu69=)
NM_022436.3(ABCG5):c.225C>T (p.Tyr75=)
NM_022436.3(ABCG5):c.237G>A (p.Gly79=)
NM_022436.3(ABCG5):c.242T>C (p.Ile81Thr)
NM_022436.3(ABCG5):c.265+16A>T
NM_022436.3(ABCG5):c.265+7T>A
NM_022436.3(ABCG5):c.266-13T>G
NM_022436.3(ABCG5):c.266-2A>G
NM_022436.3(ABCG5):c.266-5C>G
NM_022436.3(ABCG5):c.266-9G>T
NM_022436.3(ABCG5):c.273G>A (p.Gly91=)
NM_022436.3(ABCG5):c.274A>G (p.Lys92Glu)
NM_022436.3(ABCG5):c.301G>T (p.Gly101Trp) rs1010631695
NM_022436.3(ABCG5):c.331G>T (p.Gly111Trp)
NM_022436.3(ABCG5):c.336G>A (p.Glu112=)
NM_022436.3(ABCG5):c.343G>A (p.Val115Met)
NM_022436.3(ABCG5):c.357G>A (p.Ala119=)
NM_022436.3(ABCG5):c.366G>C (p.Arg122=)
NM_022436.3(ABCG5):c.367G>T (p.Glu123Ter)
NM_022436.3(ABCG5):c.384C>T (p.Cys128=)
NM_022436.3(ABCG5):c.402+13C>T
NM_022436.3(ABCG5):c.402+18A>T
NM_022436.3(ABCG5):c.402+19C>A rs2104864932
NM_022436.3(ABCG5):c.402+20C>A
NM_022436.3(ABCG5):c.402+3G>T
NM_022436.3(ABCG5):c.402+6CG[3]
NM_022436.3(ABCG5):c.403-13G>A
NM_022436.3(ABCG5):c.403-2A>T
NM_022436.3(ABCG5):c.405C>T (p.Ser135=)
NM_022436.3(ABCG5):c.421A>C (p.Ser141Arg)
NM_022436.3(ABCG5):c.429C>T (p.Thr143=) rs1667964581
NM_022436.3(ABCG5):c.436G>T (p.Glu146Ter)
NM_022436.3(ABCG5):c.43C>A (p.Leu15Ile)
NM_022436.3(ABCG5):c.43C>G (p.Leu15Val) rs372312214
NM_022436.3(ABCG5):c.43C>T (p.Leu15Phe)
NM_022436.3(ABCG5):c.451A>C (p.Thr151Pro) rs1667962481
NM_022436.3(ABCG5):c.452C>G (p.Thr151Ser)
NM_022436.3(ABCG5):c.453C>A (p.Thr151=)
NM_022436.3(ABCG5):c.459G>A (p.Leu153=)
NM_022436.3(ABCG5):c.45C>G (p.Leu15=) rs932531973
NM_022436.3(ABCG5):c.501+11C>A
NM_022436.3(ABCG5):c.501+11C>T rs530079060
NM_022436.3(ABCG5):c.501+11dup rs200655485
NM_022436.3(ABCG5):c.501+14C>G
NM_022436.3(ABCG5):c.501+16C>T
NM_022436.3(ABCG5):c.501+16del
NM_022436.3(ABCG5):c.501+1G>A
NM_022436.3(ABCG5):c.502-7C>T
NM_022436.3(ABCG5):c.531G>C (p.Leu177=)
NM_022436.3(ABCG5):c.537T>A (p.His179Gln)
NM_022436.3(ABCG5):c.539T>A (p.Val180Glu)
NM_022436.3(ABCG5):c.543A>C (p.Ala181=)
NM_022436.3(ABCG5):c.547C>T (p.Arg183Ter)
NM_022436.3(ABCG5):c.550C>T (p.Leu184=) rs762951266
NM_022436.3(ABCG5):c.575del (p.Gly192fs) rs762031825
NM_022436.3(ABCG5):c.595C>T (p.Arg199Cys) rs376129056
NM_022436.3(ABCG5):c.598C>T (p.Arg200Trp)
NM_022436.3(ABCG5):c.600G>A (p.Arg200=)
NM_022436.3(ABCG5):c.606C>T (p.Ser202=)
NM_022436.3(ABCG5):c.609C>T (p.Ile203=)
NM_022436.3(ABCG5):c.634+19T>C
NM_022436.3(ABCG5):c.634+1G>A rs370368811
NM_022436.3(ABCG5):c.634+1G>C rs370368811
NM_022436.3(ABCG5):c.634+6T>G rs1397305308
NM_022436.3(ABCG5):c.635-153_1588del
NM_022436.3(ABCG5):c.635-15C>T
NM_022436.3(ABCG5):c.64C>T (p.Gln22Ter)
NM_022436.3(ABCG5):c.651T>C (p.Asp217=)
NM_022436.3(ABCG5):c.656C>G (p.Pro219Arg)
NM_022436.3(ABCG5):c.676A>G (p.Met226Val)
NM_022436.3(ABCG5):c.680C>G (p.Thr227Ser)
NM_022436.3(ABCG5):c.686A>C (p.Asn229Thr)
NM_022436.3(ABCG5):c.697G>A (p.Val233Ile)
NM_022436.3(ABCG5):c.706G>C (p.Val236Leu)
NM_022436.3(ABCG5):c.711A>G (p.Glu237=)
NM_022436.3(ABCG5):c.718C>T (p.Arg240Cys) rs1018070975
NM_022436.3(ABCG5):c.719G>A (p.Arg240His)
NM_022436.3(ABCG5):c.719G>T (p.Arg240Leu)
NM_022436.3(ABCG5):c.720C>T (p.Arg240=)
NM_022436.3(ABCG5):c.723G>T (p.Arg241Ser)
NM_022436.3(ABCG5):c.731T>C (p.Ile244Thr)
NM_022436.3(ABCG5):c.735G>T (p.Val245=)
NM_022436.3(ABCG5):c.736G>A (p.Val246Ile)
NM_022436.3(ABCG5):c.757C>T (p.Arg253Cys)
NM_022436.3(ABCG5):c.75G>A (p.Leu25=)
NM_022436.3(ABCG5):c.761C>T (p.Ser254Phe)
NM_022436.3(ABCG5):c.774+13A>T
NM_022436.3(ABCG5):c.774+17G>A
NM_022436.3(ABCG5):c.775-16T>A
NM_022436.3(ABCG5):c.775-18C>G rs200416765
NM_022436.3(ABCG5):c.775-18C>T rs200416765
NM_022436.3(ABCG5):c.803T>A (p.Phe268Tyr) rs770103215
NM_022436.3(ABCG5):c.805G>A (p.Gly269Arg)
NM_022436.3(ABCG5):c.82G>T (p.Ala28Ser) rs980495592
NM_022436.3(ABCG5):c.832G>A (p.Ala278Thr) rs1479033652
NM_022436.3(ABCG5):c.849C>T (p.Phe283=)
NM_022436.3(ABCG5):c.862G>T (p.Gly288Cys) rs139264483
NM_022436.3(ABCG5):c.866A>G (p.Tyr289Cys) rs759892269
NM_022436.3(ABCG5):c.901T>C (p.Tyr301His)
NM_022436.3(ABCG5):c.904+17C>T
NM_022436.3(ABCG5):c.904+1G>A
NM_022436.3(ABCG5):c.904+3_904+6del
NM_022436.3(ABCG5):c.905-13G>C
NM_022436.3(ABCG5):c.905-20C>A
NM_022436.3(ABCG5):c.905-3T>C
NM_022436.3(ABCG5):c.905-3dup rs142037828
NM_022436.3(ABCG5):c.914C>G (p.Thr305Arg) rs143740796
NM_022436.3(ABCG5):c.914C>T (p.Thr305Met)
NM_022436.3(ABCG5):c.918A>C (p.Ser306=)
NM_022436.3(ABCG5):c.922G>C (p.Asp308His) rs767648807
NM_022436.3(ABCG5):c.933C>T (p.Ser311=) rs774304589
NM_022436.3(ABCG5):c.939A>G (p.Glu313=)
NM_022436.3(ABCG5):c.962G>A (p.Arg321Lys) rs1348348567
NM_022436.3(ABCG5):c.963A>C (p.Arg321Ser) rs1667456050
NM_022436.3(ABCG5):c.978A>G (p.Glu326=)
NM_022436.3(ABCG5):c.978del (p.Glu326fs) rs869025350
NM_022436.3(ABCG5):c.988A>G (p.Lys330Glu)
NM_022436.3(ABCG5):c.98C>T (p.Pro33Leu)
NM_032634.4(PIGO):c.1008A>G (p.Pro336=)
NM_032634.4(PIGO):c.1011T>C (p.Phe337=)
NM_032634.4(PIGO):c.1028T>C (p.Val343Ala) rs2131078846
NM_032634.4(PIGO):c.1035T>G (p.Ala345=) rs962272098
NM_032634.4(PIGO):c.1045T>G (p.Ser349Ala) rs1554673142
NM_032634.4(PIGO):c.1073C>T (p.Ser358Phe) rs376445701
NM_032634.4(PIGO):c.1079C>A (p.Ala360Asp)
NM_032634.4(PIGO):c.1086C>G (p.Ala362=)
NM_032634.4(PIGO):c.1094C>T (p.Ser365Leu) rs1262476458
NM_032634.4(PIGO):c.1095A>T (p.Ser365=) rs771034645
NM_032634.4(PIGO):c.1113T>C (p.Ala371=)
NM_032634.4(PIGO):c.1114C>T (p.Gln372Ter)
NM_032634.4(PIGO):c.1119+10C>T
NM_032634.4(PIGO):c.1120-12T>C
NM_032634.4(PIGO):c.1120-15C>T rs77344591
NM_032634.4(PIGO):c.1120-16A>C
NM_032634.4(PIGO):c.1120-17G>C
NM_032634.4(PIGO):c.1120-20_1120-18del
NM_032634.4(PIGO):c.1120-29_1120-9del
NM_032634.4(PIGO):c.1120-5G>C rs1829493650
NM_032634.4(PIGO):c.1120G>C (p.Val374Leu) rs1587168605
NM_032634.4(PIGO):c.1126C>T (p.Arg376Ter)
NM_032634.4(PIGO):c.1127G>C (p.Arg376Pro) rs768552303
NM_032634.4(PIGO):c.1127G>T (p.Arg376Leu) rs768552303
NM_032634.4(PIGO):c.1135C>T (p.His379Tyr) rs771838559
NM_032634.4(PIGO):c.1152T>C (p.Ala384=)
NM_032634.4(PIGO):c.1167A>G (p.Gln389=)
NM_032634.4(PIGO):c.1184del (p.Gln395fs)
NM_032634.4(PIGO):c.1187del (p.Leu396fs) rs1657564568
NM_032634.4(PIGO):c.1189C>T (p.Gln397Ter)
NM_032634.4(PIGO):c.119G>A (p.Ser40Asn)
NM_032634.4(PIGO):c.1213G>A (p.Ala405Thr)
NM_032634.4(PIGO):c.1225T>C (p.Trp409Arg) rs2131077871
NM_032634.4(PIGO):c.1233C>T (p.Leu411=)
NM_032634.4(PIGO):c.1236G>A (p.Gln412=)
NM_032634.4(PIGO):c.1241C>G (p.Pro414Arg) rs944789603
NM_032634.4(PIGO):c.1244A>G (p.Lys415Arg) rs1265730676
NM_032634.4(PIGO):c.1247G>A (p.Gly416Glu) rs774194698
NM_032634.4(PIGO):c.1257G>A (p.Ala419=)
NM_032634.4(PIGO):c.1261C>T (p.Leu421=)
NM_032634.4(PIGO):c.1266G>A (p.Pro422=) rs758742085
NM_032634.4(PIGO):c.1270G>A (p.Val424Met)
NM_032634.4(PIGO):c.1271_1272del (p.Val424fs) rs1563998317
NM_032634.4(PIGO):c.1281G>A (p.Glu427=) rs1829484190
NM_032634.4(PIGO):c.1297C>T (p.Arg433Trp)
NM_032634.4(PIGO):c.1316G>A (p.Cys439Tyr)
NM_032634.4(PIGO):c.1327T>C (p.Trp443Arg)
NM_032634.4(PIGO):c.1329G>A (p.Trp443Ter) rs2131077198
NM_032634.4(PIGO):c.132C>G (p.Pro44=)
NM_032634.4(PIGO):c.1334G>A (p.Arg445His)
NM_032634.4(PIGO):c.1335T>A (p.Arg445=) rs2131077185
NM_032634.4(PIGO):c.1335T>C (p.Arg445=)
NM_032634.4(PIGO):c.1339T>C (p.Ser447Pro)
NM_032634.4(PIGO):c.1344G>C (p.Leu448=)
NM_032634.4(PIGO):c.1348del (p.Arg450fs)
NM_032634.4(PIGO):c.1351A>G (p.Met451Val) rs1477371877
NM_032634.4(PIGO):c.1355C>G (p.Ala452Gly) rs767418527
NM_032634.4(PIGO):c.1356G>A (p.Ala452=) rs759532728
NM_032634.4(PIGO):c.1356G>T (p.Ala452=) rs759532728
NM_032634.4(PIGO):c.1359G>T (p.Gly453=) rs368706055
NM_032634.4(PIGO):c.135dup (p.Gly46fs) rs1287376106
NM_032634.4(PIGO):c.1361G>T (p.Gly454Val) rs751477063
NM_032634.4(PIGO):c.1361del (p.Gly454fs)
NM_032634.4(PIGO):c.1361dup (p.Thr455fs)
NM_032634.4(PIGO):c.1365T>G (p.Thr455=) rs2131077068
NM_032634.4(PIGO):c.1391T>G (p.Ile464Ser) rs982318294
NM_032634.4(PIGO):c.1396C>G (p.Leu466Val) rs1829476284
NM_032634.4(PIGO):c.1400T>C (p.Leu467Pro)
NM_032634.4(PIGO):c.1407_1421del (p.Gln470_Ser474del) rs756923468
NM_032634.4(PIGO):c.1421C>G (p.Ser474Cys) rs1829474910
NM_032634.4(PIGO):c.1424C>G (p.Pro475Arg) rs370166497
NM_032634.4(PIGO):c.1428C>T (p.Gly476=)
NM_032634.4(PIGO):c.1433C>T (p.Pro478Leu) rs1829474467
NM_032634.4(PIGO):c.1434A>T (p.Pro478=)
NM_032634.4(PIGO):c.1442C>G (p.Pro481Arg) rs1563997847
NM_032634.4(PIGO):c.1445_1449del (p.Leu482fs) rs1209271799
NM_032634.4(PIGO):c.1449C>T (p.Leu483=)
NM_032634.4(PIGO):c.148C>T (p.Leu50=)
NM_032634.4(PIGO):c.1493C>T (p.Ala498Val) rs139997527
NM_032634.4(PIGO):c.14C>T (p.Ser5Leu) rs1829634211
NM_032634.4(PIGO):c.1500C>A (p.Leu500=)
NM_032634.4(PIGO):c.1502T>A (p.Leu501Gln) rs1829470218
NM_032634.4(PIGO):c.1505G>A (p.Gly502Glu) rs1486039779
NM_032634.4(PIGO):c.1510A>G (p.Ile504Val) rs868736867
NM_032634.4(PIGO):c.1512T>G (p.Ile504Met)
NM_032634.4(PIGO):c.1528C>G (p.Leu510Val)
NM_032634.4(PIGO):c.152C>T (p.Pro51Leu) rs1829626741
NM_032634.4(PIGO):c.153A>C (p.Pro51=) rs758429983
NM_032634.4(PIGO):c.153A>G (p.Pro51=)
NM_032634.4(PIGO):c.1549del (p.Ala517fs) rs1587166550
NM_032634.4(PIGO):c.154T>C (p.Trp52Arg) rs1829626477
NM_032634.4(PIGO):c.1569C>T (p.Leu523=)
NM_032634.4(PIGO):c.1574T>A (p.Phe525Tyr) rs935550232
NM_032634.4(PIGO):c.1575T>C (p.Phe525=) rs2131076597
NM_032634.4(PIGO):c.1578G>T (p.Leu526=)
NM_032634.4(PIGO):c.1587C>T (p.Ala529=)
NM_032634.4(PIGO):c.1591G>A (p.Ala531Thr) rs1416430595
NM_032634.4(PIGO):c.159G>T (p.Gly53=) rs2131084364
NM_032634.4(PIGO):c.1615C>T (p.Leu539=)
NM_032634.4(PIGO):c.1638T>C (p.Pro546=)
NM_032634.4(PIGO):c.1647C>G (p.Val549=) rs2131076353
NM_032634.4(PIGO):c.1648C>T (p.Leu550=) rs2131076346
NM_032634.4(PIGO):c.1653A>G (p.Leu551=)
NM_032634.4(PIGO):c.1657C>T (p.Leu553=) rs1794940212
NM_032634.4(PIGO):c.1657CTG[1] (p.Leu554del)
NM_032634.4(PIGO):c.1666C>T (p.Arg556Cys) rs754771826
NM_032634.4(PIGO):c.1667G>A (p.Arg556His)
NM_032634.4(PIGO):c.1667G>T (p.Arg556Leu)
NM_032634.4(PIGO):c.1673C>T (p.Ala558Val) rs544432298
NM_032634.4(PIGO):c.1674T>C (p.Ala558=)
NM_032634.4(PIGO):c.1686T>C (p.Ser562=)
NM_032634.4(PIGO):c.1701A>G (p.Val567=)
NM_032634.4(PIGO):c.1703C>T (p.Ala568Val)
NM_032634.4(PIGO):c.1707G>C (p.Glu569Asp) rs752287920
NM_032634.4(PIGO):c.1719C>T (p.Thr573=) rs2131076194
NM_032634.4(PIGO):c.1722C>T (p.Pro574=)
NM_032634.4(PIGO):c.1729T>C (p.Leu577=) rs2131076165
NM_032634.4(PIGO):c.1730T>C (p.Leu577Ser) rs1396494796
NM_032634.4(PIGO):c.1740C>T (p.Phe580=)
NM_032634.4(PIGO):c.1741A>G (p.Ile581Val) rs1390829462
NM_032634.4(PIGO):c.1747C>T (p.Leu583Phe) rs778946017
NM_032634.4(PIGO):c.1751T>C (p.Leu584Pro) rs1829452882
NM_032634.4(PIGO):c.1758C>G (p.Val586=) rs144103228
NM_032634.4(PIGO):c.1758C>T (p.Val586=) rs144103228
NM_032634.4(PIGO):c.1761G>A (p.Gln587=) rs1587165620
NM_032634.4(PIGO):c.1789C>A (p.Pro597Thr) rs1829451050
NM_032634.4(PIGO):c.178del (p.Ala60fs) rs1378962389
NM_032634.4(PIGO):c.1801A>G (p.Thr601Ala) rs2131075982
NM_032634.4(PIGO):c.1810dup (p.Arg604fs) rs774508288
NM_032634.4(PIGO):c.1817G>A (p.Gly606Asp)
NM_032634.4(PIGO):c.1818C>G (p.Gly606=)
NM_032634.4(PIGO):c.1820C>A (p.Thr607Asn) rs1829449172
NM_032634.4(PIGO):c.1821T>G (p.Thr607=)
NM_032634.4(PIGO):c.1824A>C (p.Ser608=)
NM_032634.4(PIGO):c.1837C>A (p.Pro613Thr)
NM_032634.4(PIGO):c.1840C>T (p.Pro614Ser) rs2131075851
NM_032634.4(PIGO):c.1841C>G (p.Pro614Arg) rs749184960
NM_032634.4(PIGO):c.1841dup (p.Arg615fs)
NM_032634.4(PIGO):c.1847A>C (p.His616Pro)
NM_032634.4(PIGO):c.1857A>G (p.Ala619=) rs1278167055
NM_032634.4(PIGO):c.1861G>T (p.Ala621Ser)
NM_032634.4(PIGO):c.1862C>G (p.Ala621Gly)
NM_032634.4(PIGO):c.1887T>C (p.Leu629=)
NM_032634.4(PIGO):c.1907G>A (p.Gly636Glu)
NM_032634.4(PIGO):c.1919G>A (p.Arg640His) rs918368312
NM_032634.4(PIGO):c.1919G>T (p.Arg640Leu) rs918368312
NM_032634.4(PIGO):c.1923C>A (p.Cys641Ter)
NM_032634.4(PIGO):c.1927G>A (p.Glu643Lys) rs369499442
NM_032634.4(PIGO):c.1930G>A (p.Glu644Lys)
NM_032634.4(PIGO):c.1930G>C (p.Glu644Gln) rs1237579146
NM_032634.4(PIGO):c.1932G>A (p.Glu644=)
NM_032634.4(PIGO):c.1936C>T (p.Pro646Ser) rs1829443313
NM_032634.4(PIGO):c.193T>A (p.Ser65Thr) rs2131084267
NM_032634.4(PIGO):c.1942del (p.Cys648fs) rs2131075608
NM_032634.4(PIGO):c.1949C>T (p.Ser650Phe) rs1587164764
NM_032634.4(PIGO):c.1952C>T (p.Ser651Phe) rs1441207104
NM_032634.4(PIGO):c.1956C>T (p.Pro652=)
NM_032634.4(PIGO):c.1959G>A (p.Trp653Ter) rs1391418639
NM_032634.4(PIGO):c.1960C>G (p.Leu654Val) rs766400679
NM_032634.4(PIGO):c.1966C>T (p.Pro656Ser)
NM_032634.4(PIGO):c.196C>T (p.Arg66Ter) rs763992668
NM_032634.4(PIGO):c.1982T>C (p.Val661Ala)
NM_032634.4(PIGO):c.1982T>G (p.Val661Gly) rs769720030
NM_032634.4(PIGO):c.1991G>C (p.Arg664Pro) rs371923881
NM_032634.4(PIGO):c.2002T>G (p.Leu668Val)
NM_032634.4(PIGO):c.2003T>G (p.Leu668Trp) rs746676621
NM_032634.4(PIGO):c.2007G>A (p.Trp669Ter) rs1563996824
NM_032634.4(PIGO):c.2018G>C (p.Cys673Ser) rs1829439353
NM_032634.4(PIGO):c.2025G>T (p.Ala675=)
NM_032634.4(PIGO):c.2026G>A (p.Ala676Thr) rs1465665122
NM_032634.4(PIGO):c.2027C>T (p.Ala676Val)
NM_032634.4(PIGO):c.2028G>A (p.Ala676=)
NM_032634.4(PIGO):c.2030T>G (p.Leu677Arg) rs1587164392
NM_032634.4(PIGO):c.2038C>T (p.Leu680=) rs2131075299
NM_032634.4(PIGO):c.2040G>A (p.Leu680=) rs41274877
NM_032634.4(PIGO):c.2048C>T (p.Ala683Val) rs1436127368
NM_032634.4(PIGO):c.204G>A (p.Ser68=)
NM_032634.4(PIGO):c.204dup (p.Arg69fs) rs751086453
NM_032634.4(PIGO):c.2054G>A (p.Arg685His) rs537260013
NM_032634.4(PIGO):c.2054_2055delinsTT (p.Arg685Leu) rs1829436323
NM_032634.4(PIGO):c.2064T>G (p.Leu688=)
NM_032634.4(PIGO):c.2066G>C (p.Arg689Pro) rs771748735
NM_032634.4(PIGO):c.2068C>T (p.Arg690Cys)
NM_032634.4(PIGO):c.2070C>T (p.Arg690=) rs770497870
NM_032634.4(PIGO):c.2075G>A (p.Gly692Asp) rs1829434904
NM_032634.4(PIGO):c.2084_2086del (p.Lys695del) rs1436537334
NM_032634.4(PIGO):c.2106C>G (p.Leu702=) rs1829433013
NM_032634.4(PIGO):c.2106C>T (p.Leu702=)
NM_032634.4(PIGO):c.210T>C (p.Val70=) rs1829622496
NM_032634.4(PIGO):c.2114G>C (p.Arg705Pro) rs761836966
NM_032634.4(PIGO):c.2117G>A (p.Trp706Ter)
NM_032634.4(PIGO):c.211G>A (p.Val71Met) rs540103270
NM_032634.4(PIGO):c.2132T>C (p.Met711Thr) rs2131074970
NM_032634.4(PIGO):c.2144C>A (p.Thr715Asn)
NM_032634.4(PIGO):c.2158G>A (p.Ala720Thr) rs1829430826
NM_032634.4(PIGO):c.2165C>T (p.Ala722Val) rs895003968
NM_032634.4(PIGO):c.2166G>A (p.Ala722=)
NM_032634.4(PIGO):c.2169G>T (p.Ser723=) rs780502790
NM_032634.4(PIGO):c.2176G>A (p.Asp726Asn) rs1306054354
NM_032634.4(PIGO):c.2182G>C (p.Ala728Pro) rs1221803789
NM_032634.4(PIGO):c.2182G>T (p.Ala728Ser) rs1221803789
NM_032634.4(PIGO):c.2185C>A (p.Pro729Thr) rs925153680
NM_032634.4(PIGO):c.2188C>T (p.Pro730Ser) rs747418653
NM_032634.4(PIGO):c.2189C>A (p.Pro730His) rs561174794
NM_032634.4(PIGO):c.2189C>G (p.Pro730Arg)
NM_032634.4(PIGO):c.2189C>T (p.Pro730Leu) rs561174794
NM_032634.4(PIGO):c.2191del (p.Arg731fs) rs760848629
NM_032634.4(PIGO):c.2191dup (p.Arg731fs) rs760848629
NM_032634.4(PIGO):c.2192G>A (p.Arg731His) rs946030670
NM_032634.4(PIGO):c.2192G>T (p.Arg731Leu)
NM_032634.4(PIGO):c.2193T>G (p.Arg731=)
NM_032634.4(PIGO):c.2197C>G (p.Arg733Gly) rs748093757
NM_032634.4(PIGO):c.219G>A (p.Val73=)
NM_032634.4(PIGO):c.2205G>C (p.Leu735=) rs565127635
NM_032634.4(PIGO):c.2217del (p.Ser740fs)
NM_032634.4(PIGO):c.221T>C (p.Leu74Pro) rs1829622098
NM_032634.4(PIGO):c.2220C>G (p.Ser740=) rs752508027
NM_032634.4(PIGO):c.2222T>C (p.Met741Thr)
NM_032634.4(PIGO):c.2245G>A (p.Gly749Arg) rs1829424417
NM_032634.4(PIGO):c.2252C>T (p.Ala751Val) rs1461400949
NM_032634.4(PIGO):c.2257T>A (p.Ser753Thr) rs2131074572
NM_032634.4(PIGO):c.2257del (p.Ser753fs) rs2131074579
NM_032634.4(PIGO):c.2258C>T (p.Ser753Leu) rs1473159434
NM_032634.4(PIGO):c.2261G>A (p.Gly754Glu) rs1424475122
NM_032634.4(PIGO):c.2261G>C (p.Gly754Ala) rs1424475122
NM_032634.4(PIGO):c.2265C>T (p.Leu755=) rs746204138
NM_032634.4(PIGO):c.226G>A (p.Asp76Asn) rs1829621859
NM_032634.4(PIGO):c.2273T>C (p.Leu758Pro) rs1332591691
NM_032634.4(PIGO):c.2279G>A (p.Trp760Ter)
NM_032634.4(PIGO):c.2281A>C (p.Lys761Gln) rs2131074474
NM_032634.4(PIGO):c.2284C>G (p.Pro762Ala) rs752700560
NM_032634.4(PIGO):c.2289G>A (p.Val763=) rs751387350
NM_032634.4(PIGO):c.2299G>T (p.Val767Leu) rs1237902622
NM_032634.4(PIGO):c.2307T>C (p.Ala769=) rs1829420389
NM_032634.4(PIGO):c.2308G>A (p.Gly770Arg) rs2131074356
NM_032634.4(PIGO):c.2309G>C (p.Gly770Ala)
NM_032634.4(PIGO):c.230C>T (p.Ala77Val) rs1489992993
NM_032634.4(PIGO):c.2315G>A (p.Gly772Asp) rs2131074331
NM_032634.4(PIGO):c.2325G>A (p.Arg775=)
NM_032634.4(PIGO):c.2325G>T (p.Arg775Ser) rs367815008
NM_032634.4(PIGO):c.2326A>G (p.Thr776Ala) rs1829419277
NM_032634.4(PIGO):c.2331G>A (p.Arg777=)
NM_032634.4(PIGO):c.2335G>C (p.Val779Leu)
NM_032634.4(PIGO):c.2340C>T (p.Leu780=) rs1437561417
NM_032634.4(PIGO):c.2345C>T (p.Pro782Leu)
NM_032634.4(PIGO):c.2352A>G (p.Ser784=) rs1013303269
NM_032634.4(PIGO):c.2360_2363del (p.Pro787fs) rs2131074060
NM_032634.4(PIGO):c.2361C>A (p.Pro787=) rs144233446
NM_032634.4(PIGO):c.2361C>G (p.Pro787=)
NM_032634.4(PIGO):c.2361C>T (p.Pro787=) rs144233446
NM_032634.4(PIGO):c.2361dup (p.Thr788fs) rs770591449
NM_032634.4(PIGO):c.2363C>A (p.Thr788Asn) rs1390807512
NM_032634.4(PIGO):c.2364T>C (p.Thr788=)
NM_032634.4(PIGO):c.2364T>G (p.Thr788=) rs571101716
NM_032634.4(PIGO):c.2368C>T (p.Gln790Ter)
NM_032634.4(PIGO):c.2370A>G (p.Gln790=)
NM_032634.4(PIGO):c.2371G>A (p.Ala791Thr)
NM_032634.4(PIGO):c.2379G>A (p.Leu793=)
NM_032634.4(PIGO):c.2380G>A (p.Asp794Asn) rs1394125837
NM_032634.4(PIGO):c.23T>C (p.Leu8Pro) rs755191263
NM_032634.4(PIGO):c.2400C>A (p.Ile800=)
NM_032634.4(PIGO):c.2404C>T (p.Arg802Ter) rs1199247059
NM_032634.4(PIGO):c.2406A>G (p.Arg802=) rs2131073918
NM_032634.4(PIGO):c.240T>C (p.Phe80=)
NM_032634.4(PIGO):c.2413C>T (p.Gln805Ter)
NM_032634.4(PIGO):c.2414A>G (p.Gln805Arg) rs1829412566
NM_032634.4(PIGO):c.2426G>A (p.Arg809Gln)
NM_032634.4(PIGO):c.2431C>G (p.Arg811Gly) rs140470862
NM_032634.4(PIGO):c.2433G>T (p.Arg811=)
NM_032634.4(PIGO):c.2435T>G (p.Leu812Ter) rs746967719
NM_032634.4(PIGO):c.2442_2457del (p.Arg814fs)
NM_032634.4(PIGO):c.2447A>C (p.Lys816Thr)
NM_032634.4(PIGO):c.2448A>G (p.Lys816=)
NM_032634.4(PIGO):c.244T>G (p.Phe82Val)
NM_032634.4(PIGO):c.246C>T (p.Phe82=) rs748671184
NM_032634.4(PIGO):c.2470G>A (p.Ala824Thr) rs1452787176
NM_032634.4(PIGO):c.2471C>G (p.Ala824Gly) rs1248760414
NM_032634.4(PIGO):c.247G>A (p.Ala83Thr) rs1171298718
NM_032634.4(PIGO):c.2488A>G (p.Ser830Gly) rs1201442869
NM_032634.4(PIGO):c.2490T>C (p.Ser830=)
NM_032634.4(PIGO):c.2499A>G (p.Ser833=)
NM_032634.4(PIGO):c.2499A>T (p.Ser833=) rs2131073558
NM_032634.4(PIGO):c.2503G>A (p.Ala835Thr)
NM_032634.4(PIGO):c.2520C>T (p.Leu840=) rs537796918
NM_032634.4(PIGO):c.2524C>T (p.Leu842=) rs1381492177
NM_032634.4(PIGO):c.252G>C (p.Gln84His) rs1829620198
NM_032634.4(PIGO):c.253C>G (p.Pro85Ala) rs745754359
NM_032634.4(PIGO):c.2553T>C (p.His851=) rs776946348
NM_032634.4(PIGO):c.2555_2572del (p.Ala852_Leu857del) rs1829403799
NM_032634.4(PIGO):c.2560C>T (p.Arg854Cys)
NM_032634.4(PIGO):c.2563A>G (p.Ile855Val)
NM_032634.4(PIGO):c.2564T>C (p.Ile855Thr)
NM_032634.4(PIGO):c.2568C>T (p.Ser856=)
NM_032634.4(PIGO):c.2574G>A (p.Val858=)
NM_032634.4(PIGO):c.2598C>T (p.Ser866=) rs2131073379
NM_032634.4(PIGO):c.259C>T (p.His87Tyr) rs1014636057
NM_032634.4(PIGO):c.2602_2605del (p.Leu868fs) rs2131073372
NM_032634.4(PIGO):c.2607C>T (p.Leu869=) rs1587161703
NM_032634.4(PIGO):c.2607_2609del (p.Leu870del) rs1829402902
NM_032634.4(PIGO):c.2616G>C (p.Leu872=)
NM_032634.4(PIGO):c.2621C>A (p.Ala874Asp)
NM_032634.4(PIGO):c.2627G>A (p.Gly876Glu) rs1057524330
NM_032634.4(PIGO):c.2634C>G (p.Pro878=)
NM_032634.4(PIGO):c.2647+13G>T
NM_032634.4(PIGO):c.2647+14C>T
NM_032634.4(PIGO):c.2647+15T>C
NM_032634.4(PIGO):c.2647+7A>T rs763374350
NM_032634.4(PIGO):c.2648-16A>G
NM_032634.4(PIGO):c.2648-7C>T
NM_032634.4(PIGO):c.2649T>C (p.Gly883=)
NM_032634.4(PIGO):c.2670G>T (p.Gln890His) rs2131072103
NM_032634.4(PIGO):c.2674G>A (p.Val892Ile)
NM_032634.4(PIGO):c.267C>T (p.His89=) rs781454559
NM_032634.4(PIGO):c.2682T>C (p.Ala894=)
NM_032634.4(PIGO):c.2693T>C (p.Met898Thr) rs1829374920
NM_032634.4(PIGO):c.2700A>C (p.Thr900=) rs749138418
NM_032634.4(PIGO):c.2707T>G (p.Phe903Val) rs1009399563
NM_032634.4(PIGO):c.2708_2710del (p.Phe903del)
NM_032634.4(PIGO):c.270G>A (p.Val90=)
NM_032634.4(PIGO):c.270G>T (p.Val90=)
NM_032634.4(PIGO):c.2711_2713del (p.Tyr904del)
NM_032634.4(PIGO):c.2725C>T (p.Gln909Ter) rs1829372756
NM_032634.4(PIGO):c.2731G>A (p.Val911Ile) rs779624264
NM_032634.4(PIGO):c.2741C>T (p.Ala914Val)
NM_032634.4(PIGO):c.2743A>G (p.Ile915Val) rs1554672147
NM_032634.4(PIGO):c.2748T>C (p.His916=)
NM_032634.4(PIGO):c.2779G>A (p.Gly927Ser) rs1444732315
NM_032634.4(PIGO):c.2784T>C (p.His928=)
NM_032634.4(PIGO):c.279G>A (p.Glu93=) rs1192285768
NM_032634.4(PIGO):c.2815G>C (p.Val939Leu) rs2131071645
NM_032634.4(PIGO):c.2818G>A (p.Gly940Arg) rs900520761
NM_032634.4(PIGO):c.2832T>C (p.Phe944=)
NM_032634.4(PIGO):c.2833G>T (p.Ala945Ser)
NM_032634.4(PIGO):c.2838C>T (p.Ser946=)
NM_032634.4(PIGO):c.283C>T (p.Pro95Ser)
NM_032634.4(PIGO):c.2842CTC[1] (p.Leu949del)
NM_032634.4(PIGO):c.2845C>G (p.Leu949Val) rs2131071575
NM_032634.4(PIGO):c.2851G>T (p.Ala951Ser) rs1243487347
NM_032634.4(PIGO):c.2854+19C>T
NM_032634.4(PIGO):c.2854+7C>G rs768338180
NM_032634.4(PIGO):c.2854+8del rs756312077
NM_032634.4(PIGO):c.2855-17_2855-16dup
NM_032634.4(PIGO):c.2855-19A>G rs1829357503
NM_032634.4(PIGO):c.2855-20C>T
NM_032634.4(PIGO):c.2869C>T (p.Leu957Phe) rs142164373
NM_032634.4(PIGO):c.2871C>T (p.Leu957=) rs760439971
NM_032634.4(PIGO):c.2872C>A (p.Leu958Met) rs991755076
NM_032634.4(PIGO):c.2881C>T (p.Pro961Ser) rs771759492
NM_032634.4(PIGO):c.2886C>G (p.Phe962Leu)
NM_032634.4(PIGO):c.2889G>A (p.Leu963=) rs959471469
NM_032634.4(PIGO):c.2890T>C (p.Cys964Arg) rs1829353889
NM_032634.4(PIGO):c.2895G>A (p.Glu965=)
NM_032634.4(PIGO):c.28C>T (p.Leu10=) rs2131084852
NM_032634.4(PIGO):c.28del (p.Leu10fs)
NM_032634.4(PIGO):c.2901A>G (p.Gln967=)
NM_032634.4(PIGO):c.2912A>G (p.Lys971Arg) rs1829352416
NM_032634.4(PIGO):c.2921del (p.Gln974fs) rs1829352034
NM_032634.4(PIGO):c.2930G>A (p.Gly977Glu) rs1587158391
NM_032634.4(PIGO):c.2934T>G (p.Asn978Lys) rs780217709
NM_032634.4(PIGO):c.2940T>C (p.Ala980=)
NM_032634.4(PIGO):c.2943T>A (p.Asp981Glu) rs1829350572
NM_032634.4(PIGO):c.2944G>A (p.Ala982Thr) rs1183627091
NM_032634.4(PIGO):c.2945C>T (p.Ala982Val)
NM_032634.4(PIGO):c.2947A>G (p.Arg983Gly)
NM_032634.4(PIGO):c.2953A>T (p.Arg985Ter)
NM_032634.4(PIGO):c.2957C>A (p.Pro986His) rs1255026795
NM_032634.4(PIGO):c.2958C>T (p.Pro986=) rs368361555
NM_032634.4(PIGO):c.2959G>A (p.Glu987Lys) rs550176742
NM_032634.4(PIGO):c.2967A>G (p.Glu989=)
NM_032634.4(PIGO):c.2979G>A (p.Leu993=) rs1554672011
NM_032634.4(PIGO):c.297C>T (p.Pro99=)
NM_032634.4(PIGO):c.2988G>C (p.Met996Ile) rs759177338
NM_032634.4(PIGO):c.298T>C (p.Phe100Leu) rs1564002038
NM_032634.4(PIGO):c.298T>G (p.Phe100Val) rs1564002038
NM_032634.4(PIGO):c.2990G>T (p.Arg997Leu) rs770280569
NM_032634.4(PIGO):c.2991G>C (p.Arg997=)
NM_032634.4(PIGO):c.299T>C (p.Phe100Ser)
NM_032634.4(PIGO):c.3002C>A (p.Ala1001Glu)
NM_032634.4(PIGO):c.3003G>A (p.Ala1001=) rs1367586941
NM_032634.4(PIGO):c.3020C>G (p.Ala1007Gly)
NM_032634.4(PIGO):c.3038G>T (p.Gly1013Val) rs1829343312
NM_032634.4(PIGO):c.3048C>T (p.Tyr1016=) rs1587157717
NM_032634.4(PIGO):c.3066T>A (p.Ile1022=)
NM_032634.4(PIGO):c.3067C>T (p.Gln1023Ter)
NM_032634.4(PIGO):c.3069+2T>C rs1064795758
NM_032634.4(PIGO):c.3070-12C>T
NM_032634.4(PIGO):c.3070-12CTC[2] rs1462457627
NM_032634.4(PIGO):c.3070-14_3070-12del rs2131069422
NM_032634.4(PIGO):c.3073C>T (p.Leu1025=)
NM_032634.4(PIGO):c.3078C>T (p.Ala1026=) rs2131069378
NM_032634.4(PIGO):c.3086T>C (p.Leu1029Ser) rs1829316706
NM_032634.4(PIGO):c.3098T>C (p.Ile1033Thr) rs1587155838
NM_032634.4(PIGO):c.3099C>G (p.Ile1033Met) rs1587155827
NM_032634.4(PIGO):c.3099C>T (p.Ile1033=)
NM_032634.4(PIGO):c.309del (p.Lys103fs)
NM_032634.4(PIGO):c.3104G>T (p.Arg1035Leu) rs763001837
NM_032634.4(PIGO):c.3107G>A (p.Arg1036Lys) rs764658486
NM_032634.4(PIGO):c.3118G>T (p.Val1040Phe)
NM_032634.4(PIGO):c.3126A>G (p.Lys1042=)
NM_032634.4(PIGO):c.3138del (p.Lys1047fs)
NM_032634.4(PIGO):c.3140+11T>A
NM_032634.4(PIGO):c.3141-19T>G
NM_032634.4(PIGO):c.3141-9T>A rs374227554
NM_032634.4(PIGO):c.3141-9T>C rs374227554
NM_032634.4(PIGO):c.3141-9T>G
NM_032634.4(PIGO):c.3154_3155delinsTT (p.Ala1052Phe) rs1829305473
NM_032634.4(PIGO):c.3167T>G (p.Ile1056Ser) rs1563992694
NM_032634.4(PIGO):c.3174C>T (p.Ser1058=) rs1587155037
NM_032634.4(PIGO):c.3178G>C (p.Val1060Leu)
NM_032634.4(PIGO):c.317C>T (p.Ser106Phe) rs1346782397
NM_032634.4(PIGO):c.3192G>C (p.Leu1064=)
NM_032634.4(PIGO):c.3198A>T (p.Ile1066=)
NM_032634.4(PIGO):c.3199G>C (p.Ala1067Pro)
NM_032634.4(PIGO):c.3207G>A (p.Val1069=) rs2131068725
NM_032634.4(PIGO):c.3212G>A (p.Arg1071Lys) rs1829302818
NM_032634.4(PIGO):c.3216G>T (p.Val1072=)
NM_032634.4(PIGO):c.3219T>C (p.Asp1073=)
NM_032634.4(PIGO):c.322C>T (p.Gln108Ter)
NM_032634.4(PIGO):c.3231C>T (p.Ser1077=) rs766677182
NM_032634.4(PIGO):c.3233C>G (p.Ser1078Cys)
NM_032634.4(PIGO):c.3253C>A (p.Leu1085Met) rs1829299184
NM_032634.4(PIGO):c.3259C>T (p.Gln1087Ter) rs768738759
NM_032634.4(PIGO):c.3261_3262delinsAG (p.Gln1088Glu)
NM_032634.4(PIGO):c.3262C>G (p.Gln1088Glu) rs771799139
NM_032634.4(PIGO):c.3267G>A (p.Arg1089=) rs771354621
NM_032634.4(PIGO):c.327G>A (p.Arg109=)
NM_032634.4(PIGO):c.327_336del (p.Ile110fs)
NM_032634.4(PIGO):c.350A>G (p.His117Arg)
NM_032634.4(PIGO):c.355C>T (p.Arg119Trp)
NM_032634.4(PIGO):c.361T>A (p.Tyr121Asn) rs2131083704
NM_032634.4(PIGO):c.366A>G (p.Arg122=)
NM_032634.4(PIGO):c.36G>A (p.Trp12Ter)
NM_032634.4(PIGO):c.370C>G (p.Gln124Glu)
NM_032634.4(PIGO):c.387C>A (p.Thr129=) rs765968784
NM_032634.4(PIGO):c.390C>G (p.Thr130=)
NM_032634.4(PIGO):c.399G>A (p.Gln133=) rs1829608764
NM_032634.4(PIGO):c.412C>T (p.Leu138Phe) rs1057518551
NM_032634.4(PIGO):c.414C>T (p.Leu138=)
NM_032634.4(PIGO):c.417C>A (p.Thr139=) rs1829607462
NM_032634.4(PIGO):c.418A>G (p.Thr140Ala) rs1564001736
NM_032634.4(PIGO):c.420T>G (p.Thr140=)
NM_032634.4(PIGO):c.429G>A (p.Leu143=)
NM_032634.4(PIGO):c.433A>G (p.Thr145Ala) rs1038361434
NM_032634.4(PIGO):c.437T>G (p.Phe146Cys) rs2131083426
NM_032634.4(PIGO):c.438del (p.Phe146fs) rs1587176440
NM_032634.4(PIGO):c.445dup (p.Ala149fs)
NM_032634.4(PIGO):c.452G>A (p.Ser151Asn) rs771252279
NM_032634.4(PIGO):c.470C>T (p.Ala157Val) rs764817207
NM_032634.4(PIGO):c.485A>G (p.Asn162Ser) rs1480805750
NM_032634.4(PIGO):c.505dup (p.Ser169fs)
NM_032634.4(PIGO):c.511+7G>A
NM_032634.4(PIGO):c.511_511+1delinsTT
NM_032634.4(PIGO):c.512-11T>C
NM_032634.4(PIGO):c.512-17C>T rs2240116
NM_032634.4(PIGO):c.512-20T>C
NM_032634.4(PIGO):c.512-3C>A rs2131081917
NM_032634.4(PIGO):c.512-5T>A
NM_032634.4(PIGO):c.513A>G (p.Gly171=) rs2131081904
NM_032634.4(PIGO):c.517C>T (p.Arg173Cys)
NM_032634.4(PIGO):c.523G>T (p.Val175Phe) rs1829572491
NM_032634.4(PIGO):c.530T>C (p.Met177Thr) rs1829572371
NM_032634.4(PIGO):c.534A>G (p.Gly178=)
NM_032634.4(PIGO):c.540T>A (p.Asp180Glu) rs776571289
NM_032634.4(PIGO):c.558C>T (p.Phe186=) rs2131081766
NM_032634.4(PIGO):c.55G>T (p.Ala19Ser) rs765218861
NM_032634.4(PIGO):c.565G>T (p.Ala189Ser) rs746960142
NM_032634.4(PIGO):c.56C>T (p.Ala19Val) rs1554673856
NM_032634.4(PIGO):c.572C>T (p.Ser191Phe) rs779897930
NM_032634.4(PIGO):c.583T>C (p.Phe195Leu) rs1421287635
NM_032634.4(PIGO):c.588C>G (p.Phe196Leu)
NM_032634.4(PIGO):c.589_590del (p.Pro197fs) rs763591247
NM_032634.4(PIGO):c.590del (p.Pro197fs) rs763591247
NM_032634.4(PIGO):c.591A>G (p.Pro197=)
NM_032634.4(PIGO):c.591A>T (p.Pro197=) rs1564000769
NM_032634.4(PIGO):c.613G>A (p.Asp205Asn)
NM_032634.4(PIGO):c.615C>T (p.Asp205=) rs763427139
NM_032634.4(PIGO):c.617C>T (p.Thr206Ile)
NM_032634.4(PIGO):c.628G>A (p.Gly210Ser)
NM_032634.4(PIGO):c.629G>A (p.Gly210Asp) rs2131081522
NM_032634.4(PIGO):c.636G>C (p.Leu212=)
NM_032634.4(PIGO):c.63T>G (p.Ile21Met) rs776535706
NM_032634.4(PIGO):c.655+1G>A
NM_032634.4(PIGO):c.655+4A>T
NM_032634.4(PIGO):c.655+7A>G rs118002220
NM_032634.4(PIGO):c.656-10C>T rs2131081122
NM_032634.4(PIGO):c.656-16G>T
NM_032634.4(PIGO):c.656-9C>T
NM_032634.4(PIGO):c.66C>T (p.Ala22=)
NM_032634.4(PIGO):c.672G>T (p.Trp224Cys) rs760792660
NM_032634.4(PIGO):c.679C>G (p.Leu227Val)
NM_032634.4(PIGO):c.67C>T (p.Leu23Phe) rs1396810510
NM_032634.4(PIGO):c.681G>A (p.Leu227=) rs1169009367
NM_032634.4(PIGO):c.681G>C (p.Leu227=) rs1169009367
NM_032634.4(PIGO):c.687T>C (p.Ala229=) rs375778167
NM_032634.4(PIGO):c.696G>T (p.Leu232=)
NM_032634.4(PIGO):c.69C>A (p.Leu23=)
NM_032634.4(PIGO):c.714C>G (p.Gly238=) rs148186264
NM_032634.4(PIGO):c.714C>T (p.Gly238=) rs148186264
NM_032634.4(PIGO):c.715C>T (p.His239Tyr) rs1273593671
NM_032634.4(PIGO):c.728C>T (p.Pro243Leu) rs1829553189
NM_032634.4(PIGO):c.737C>G (p.Pro246Arg) rs746364157
NM_032634.4(PIGO):c.737C>T (p.Pro246Leu)
NM_032634.4(PIGO):c.764T>C (p.Met255Thr) rs1829550983
NM_032634.4(PIGO):c.765G>T (p.Met255Ile) rs1829550863
NM_032634.4(PIGO):c.779+10G>C
NM_032634.4(PIGO):c.779+12G>A
NM_032634.4(PIGO):c.779+17G>T
NM_032634.4(PIGO):c.779A>G (p.Gln260Arg)
NM_032634.4(PIGO):c.780-16A>G
NM_032634.4(PIGO):c.780-6C>A
NM_032634.4(PIGO):c.781G>A (p.Gly261Arg)
NM_032634.4(PIGO):c.787G>A (p.Val263Met) rs1829535554
NM_032634.4(PIGO):c.79G>A (p.Gly27Ser) rs1829630935
NM_032634.4(PIGO):c.829G>C (p.Asp277His) rs1265192200
NM_032634.4(PIGO):c.838A>T (p.Met280Leu) rs755227595
NM_032634.4(PIGO):c.856C>A (p.His286Asn) rs1587171258
NM_032634.4(PIGO):c.866A>G (p.Asp289Gly)
NM_032634.4(PIGO):c.879G>A (p.Glu293=) rs753637423
NM_032634.4(PIGO):c.888T>C (p.Ala296=) rs2131079797
NM_032634.4(PIGO):c.894_895del (p.Phe299fs)
NM_032634.4(PIGO):c.899T>A (p.Leu300Gln)
NM_032634.4(PIGO):c.908C>G (p.Pro303Arg) rs1587170972
NM_032634.4(PIGO):c.91dup (p.Thr31fs) rs1587178357
NM_032634.4(PIGO):c.927C>T (p.Ser309=)
NM_032634.4(PIGO):c.929C>A (p.Thr310Asn) rs770257536
NM_032634.4(PIGO):c.936A>G (p.Pro312=) rs148844555
NM_032634.4(PIGO):c.939+15G>A
NM_032634.4(PIGO):c.939+15G>T
NM_032634.4(PIGO):c.939+17T>G
NM_032634.4(PIGO):c.939+4_939+5dup
NM_032634.4(PIGO):c.940-13C>T
NM_032634.4(PIGO):c.940-15G>A
NM_032634.4(PIGO):c.940-18A>G
NM_032634.4(PIGO):c.942G>T (p.Glu314Asp) rs764488316
NM_032634.4(PIGO):c.946G>A (p.Glu316Lys) rs377198873
NM_032634.4(PIGO):c.94C>T (p.Arg32Cys) rs1057180311
NM_032634.4(PIGO):c.951G>T (p.Val317=)
NM_032634.4(PIGO):c.962T>C (p.Val321Ala) rs1829514099
NM_032634.4(PIGO):c.966C>T (p.Ser322=) rs2131078980
NM_032634.4(PIGO):c.972G>C (p.Val324=)
NM_032634.4(PIGO):c.974C>G (p.Pro325Arg) rs1364028691
NM_032634.4(PIGO):c.985del (p.Leu329fs)
NM_032634.4(PIGO):c.996C>T (p.Gly332=)
NM_032634.4(PIGO):c.9A>G (p.Lys3=) rs2131084921

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