ClinVar Miner

List of variants reported as uncertain significance 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: 2481
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HGVS dbSNP gnomAD frequency
NM_001127178.3(PIGG):c.1699G>A (p.Ala567Thr) rs141442388 0.00060
NM_001166114.2(PNPLA6):c.795+3G>A rs375930477 0.00053
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_001127178.3(PIGG):c.2515G>A (p.Ala839Thr) rs375229286 0.00043
NM_001127178.3(PIGG):c.1372C>T (p.Arg458Cys) rs201636801 0.00041
NM_000784.4(CYP27A1):c.958C>T (p.Leu320Phe) rs367855115 0.00038
NM_022436.3(ABCG5):c.431T>C (p.Val144Ala) rs376797531 0.00032
NM_001346754.2(PIGW):c.106A>G (p.Arg36Gly) rs142067039 0.00031
NM_001360.3(DHCR7):c.988G>A (p.Val330Met) rs139724817 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_001127178.3(PIGG):c.826A>G (p.Ser276Gly) rs373951989 0.00027
NM_022436.3(ABCG5):c.1171C>T (p.Leu391Phe) rs148997255 0.00027
NM_022436.3(ABCG5):c.634+3A>G rs374755597 0.00026
NM_022436.3(ABCG5):c.1528C>A (p.His510Asn) rs199984328 0.00025
NM_032634.4(PIGO):c.794G>A (p.Arg265His) rs200924324 0.00024
NM_000431.4(MVK):c.680C>T (p.Ser227Leu) rs201360189 0.00022
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_000784.4(CYP27A1):c.1028C>T (p.Thr343Met) rs372194079 0.00020
NM_001346754.2(PIGW):c.1241T>C (p.Ile414Thr) rs201893415 0.00020
NM_032634.4(PIGO):c.3103C>T (p.Arg1035Cys) rs376829041 0.00020
NM_001127178.3(PIGG):c.1614+6T>G rs200917876 0.00019
NM_001127178.3(PIGG):c.2798C>T (p.Thr933Met) rs372561507 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_000431.4(MVK):c.663T>G (p.Ile221Met) rs757289914 0.00018
NM_001166114.2(PNPLA6):c.3397+6T>C rs764082245 0.00018
NM_000784.4(CYP27A1):c.1017+5G>A rs370304209 0.00016
NM_000784.4(CYP27A1):c.1343G>A (p.Arg448His) rs370868184 0.00016
NM_001127178.3(PIGG):c.1614+4C>G rs377462432 0.00016
NM_001127178.3(PIGG):c.712G>A (p.Glu238Lys) rs781997463 0.00016
NM_001346754.2(PIGW):c.1478T>C (p.Val493Ala) rs144246473 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_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.3428C>T (p.Thr1143Met) rs142294971 0.00015
NM_022436.3(ABCG5):c.1163C>T (p.Thr388Met) rs149418765 0.00015
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_001166114.2(PNPLA6):c.3997G>A (p.Ala1333Thr) rs143280550 0.00014
NM_022436.3(ABCG5):c.226G>A (p.Val76Met) rs368811625 0.00014
NM_000431.4(MVK):c.877G>A (p.Val293Met) rs104895356 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.3712C>G (p.Gln1238Glu) rs143072391 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.253C>A (p.Pro85Thr) rs745754359 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_001127178.3(PIGG):c.1948G>A (p.Glu650Lys) rs147598047 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_001360.3(DHCR7):c.1088G>A (p.Arg363His) rs200539324 0.00012
NM_002641.4(PIGA):c.1198C>T (p.Arg400Trp) rs772225061 0.00012
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_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.860C>T (p.Thr287Ile) rs749995536 0.00011
NM_001166114.2(PNPLA6):c.3691C>G (p.Gln1231Glu) rs375024068 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_000784.4(CYP27A1):c.1017G>A (p.Thr339=) rs200553205 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_001346754.2(PIGW):c.883C>T (p.Arg295Trp) rs367592728 0.00010
NM_032634.4(PIGO):c.394A>G (p.Met132Val) rs772678647 0.00010
NM_000431.4(MVK):c.361C>T (p.Arg121Trp) rs368026034 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_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_001346754.2(PIGW):c.491C>T (p.Thr164Ile) rs543242274 0.00009
NM_001346754.2(PIGW):c.874A>G (p.Ser292Gly) rs148837720 0.00009
NM_022436.3(ABCG5):c.112C>G (p.Leu38Val) rs375829761 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_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_001346754.2(PIGW):c.1438G>A (p.Val480Ile) rs758231021 0.00008
NM_001360.3(DHCR7):c.122C>T (p.Ala41Val) rs761265690 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_000431.4(MVK):c.331G>A (p.Ala111Thr) rs371257609 0.00007
NM_000784.4(CYP27A1):c.878T>C (p.Met293Thr) rs368735609 0.00007
NM_001127178.3(PIGG):c.1253C>T (p.Thr418Met) rs144656165 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.85C>G (p.Pro29Ala) rs201934688 0.00007
NM_001166114.2(PNPLA6):c.1270C>T (p.Arg424Cys) rs763561590 0.00007
NM_001166114.2(PNPLA6):c.217A>G (p.Arg73Gly) rs781291417 0.00007
NM_001360.3(DHCR7):c.1405C>T (p.Arg469Cys) rs148660993 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_032634.4(PIGO):c.257A>G (p.Gln86Arg) rs112670103 0.00007
NM_032634.4(PIGO):c.590C>T (p.Pro197Leu) rs150734953 0.00007
NM_000116.5(TAFAZZIN):c.751C>T (p.Arg251Trp) rs372689133 0.00006
NM_000235.4(LIPA):c.539-3C>T rs376809019 0.00006
NM_000431.4(MVK):c.889C>A (p.Leu297Ile) rs1047311477 0.00006
NM_000784.4(CYP27A1):c.425T>C (p.Leu142Pro) rs369363177 0.00006
NM_000784.4(CYP27A1):c.546T>G (p.Ile182Met) rs149366157 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.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.394G>A (p.Asp132Asn) rs144294537 0.00006
NM_001127178.3(PIGG):c.589A>G (p.Arg197Gly) rs151220901 0.00006
NM_001127178.3(PIGG):c.979C>G (p.Pro327Ala) rs773467896 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.3634G>A (p.Glu1212Lys) rs138454923 0.00006
NM_001346754.2(PIGW):c.646C>T (p.Arg216Ter) rs147622852 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_022436.3(ABCG5):c.1216C>T (p.Arg406Trp) rs752962014 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.1864C>A (p.Leu622Met) rs149262338 0.00006
NM_032634.4(PIGO):c.2908C>T (p.Arg970Trp) rs748546962 0.00006
NM_032634.4(PIGO):c.581T>G (p.Phe194Cys) rs61755365 0.00006
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.394G>A (p.Val132Ile) rs104895336 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.283A>G (p.Met95Val) rs372772968 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.61T>C (p.Cys21Arg) rs751804153 0.00005
NM_001127178.3(PIGG):c.1547C>T (p.Ser516Leu) rs749178545 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.1271G>A (p.Arg424His) rs369286019 0.00005
NM_001166114.2(PNPLA6):c.1492G>A (p.Ala498Thr) rs375397452 0.00005
NM_001166114.2(PNPLA6):c.3109C>G (p.Leu1037Val) rs765313440 0.00005
NM_001166114.2(PNPLA6):c.4018G>A (p.Glu1340Lys) rs376402887 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.418G>A (p.Val140Met) rs373908315 0.00005
NM_001360.3(DHCR7):c.571G>A (p.Val191Ile) rs532635888 0.00005
NM_002641.4(PIGA):c.908A>C (p.His303Pro) rs139991272 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.2191C>T (p.Arg731Cys) rs148341577 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_000235.4(LIPA):c.807G>C (p.Glu269Asp) rs746973509 0.00004
NM_000235.4(LIPA):c.823-17A>G rs747852495 0.00004
NM_000431.4(MVK):c.14T>C (p.Val5Ala) rs141765653 0.00004
NM_000431.4(MVK):c.449C>T (p.Ser150Leu) rs747116992 0.00004
NM_000431.4(MVK):c.722G>A (p.Arg241His) rs372166675 0.00004
NM_000431.4(MVK):c.863C>T (p.Pro288Leu) rs104895355 0.00004
NM_000431.4(MVK):c.874C>T (p.Leu292Phe) rs145586352 0.00004
NM_000784.4(CYP27A1):c.1582C>T (p.Gln528Ter) rs376609492 0.00004
NM_000784.4(CYP27A1):c.613A>G (p.Met205Val) rs147321244 0.00004
NM_001127178.3(PIGG):c.120C>G (p.His40Gln) rs782126872 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.2078A>G (p.His693Arg) rs376309515 0.00004
NM_001127178.3(PIGG):c.2237G>A (p.Arg746Gln) rs962499498 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.397G>A (p.Val133Ile) rs782516530 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_001166114.2(PNPLA6):c.1223G>T (p.Arg408Leu) rs150500586 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.2634+4G>C rs751744206 0.00004
NM_001166114.2(PNPLA6):c.3122T>C (p.Leu1041Ser) rs1291359628 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.3809G>A (p.Arg1270His) rs150754330 0.00004
NM_001166114.2(PNPLA6):c.3955G>A (p.Gly1319Arg) rs140568070 0.00004
NM_001166114.2(PNPLA6):c.617G>A (p.Arg206Gln) rs535890270 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.1366G>A (p.Gly456Ser) rs201847193 0.00004
NM_001360.3(DHCR7):c.160G>A (p.Val54Ile) rs779222334 0.00004
NM_001360.3(DHCR7):c.241C>T (p.Arg81Trp) rs775735710 0.00004
NM_001360.3(DHCR7):c.770C>T (p.Ala257Val) rs770925697 0.00004
NM_002641.4(PIGA):c.1387G>A (p.Ala463Thr) rs774546648 0.00004
NM_002641.4(PIGA):c.982-3A>C rs370316738 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.433C>T (p.Arg145Cys) rs866515397 0.00004
NM_022436.3(ABCG5):c.658A>G (p.Thr220Ala) rs781732933 0.00004
NM_032634.4(PIGO):c.1013G>A (p.Gly338Glu) rs749274989 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.2053C>T (p.Arg685Cys) rs138547909 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.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.575A>G (p.Lys192Arg) rs138004232 0.00004
NM_032634.4(PIGO):c.662G>C (p.Ser221Thr) rs754088095 0.00004
NM_000116.5(TAFAZZIN):c.27C>G (p.Phe9Leu) rs1223065368 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.763G>A (p.Glu255Lys) rs782498694 0.00003
NM_000235.4(LIPA):c.232C>A (p.Pro78Thr) rs903291078 0.00003
NM_000431.4(MVK):c.362G>A (p.Arg121Gln) rs371511147 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_000784.4(CYP27A1):c.1055C>T (p.Ser352Leu) rs780927834 0.00003
NM_000784.4(CYP27A1):c.1286A>G (p.Tyr429Cys) rs774127681 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.473G>A (p.Arg158His) rs761927223 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.871G>A (p.Glu291Lys) rs190012697 0.00003
NM_000784.4(CYP27A1):c.967C>T (p.Arg323Trp) rs371603253 0.00003
NM_001127178.3(PIGG):c.1456G>A (p.Val486Ile) rs747223582 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.2806G>A (p.Val936Ile) rs921678414 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.1529A>T (p.Glu510Val) rs1017141420 0.00003
NM_001166114.2(PNPLA6):c.1594C>T (p.Arg532Cys) rs745665473 0.00003
NM_001166114.2(PNPLA6):c.2256C>A (p.Phe752Leu) rs773741175 0.00003
NM_001166114.2(PNPLA6):c.2408C>T (p.Thr803Met) rs374789348 0.00003
NM_001166114.2(PNPLA6):c.3095G>C (p.Ser1032Thr) rs377449787 0.00003
NM_001166114.2(PNPLA6):c.3655G>A (p.Asp1219Asn) rs370060935 0.00003
NM_001166114.2(PNPLA6):c.3884C>T (p.Thr1295Met) rs758549829 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.289G>A (p.Ala97Thr) rs150563256 0.00003
NM_002641.4(PIGA):c.286G>C (p.Val96Leu) rs146801580 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.181C>T (p.Arg61Trp) rs766545187 0.00003
NM_022436.3(ABCG5):c.182G>A (p.Arg61Gln) rs149599171 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.1991G>A (p.Arg664Gln) rs371923881 0.00003
NM_032634.4(PIGO):c.2186C>T (p.Pro729Leu) rs140561049 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.2909G>A (p.Arg970Gln) rs781623319 0.00003
NM_032634.4(PIGO):c.356G>A (p.Arg119Gln) rs753918558 0.00003
NM_032634.4(PIGO):c.655+6C>T rs901654668 0.00003
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.331C>T (p.His111Tyr) rs200405157 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.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_000235.4(LIPA):c.256C>T (p.His86Tyr) rs749180806 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_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.870G>T (p.Gln290His) rs376025633 0.00002
NM_000784.4(CYP27A1):c.1083G>T (p.Leu361Phe) rs1215745374 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.1494G>C (p.Lys498Asn) rs377290147 0.00002
NM_000784.4(CYP27A1):c.368A>C (p.Lys123Thr) rs778424069 0.00002
NM_000784.4(CYP27A1):c.518T>C (p.Leu173Pro) rs1378044084 0.00002
NM_000784.4(CYP27A1):c.919G>T (p.Val307Leu) rs779794737 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.1627C>T (p.Pro543Ser) rs781363662 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.2041C>T (p.Arg681Trp) rs899791968 0.00002
NM_001127178.3(PIGG):c.2236C>T (p.Arg746Trp) rs1368574950 0.00002
NM_001127178.3(PIGG):c.2621G>T (p.Gly874Val) rs1456279365 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.2886del (p.Leu963fs) rs1395740921 0.00002
NM_001127178.3(PIGG):c.337A>G (p.Thr113Ala) rs782263436 0.00002
NM_001166114.2(PNPLA6):c.1005C>T (p.His335=) rs769241929 0.00002
NM_001166114.2(PNPLA6):c.1181A>G (p.Lys394Arg) rs764509267 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.2488G>C (p.Gly830Arg) rs1244234383 0.00002
NM_001166114.2(PNPLA6):c.3344A>G (p.Asp1115Gly) rs762434726 0.00002
NM_001166114.2(PNPLA6):c.3439A>G (p.Ile1147Val) rs754198302 0.00002
NM_001166114.2(PNPLA6):c.3688G>A (p.Asp1230Asn) rs747752100 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.4054C>T (p.Arg1352Cys) rs1204274988 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.881C>T (p.Ala294Val) rs756180538 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.34A>G (p.Ser12Gly) rs745967175 0.00002
NM_001346754.2(PIGW):c.398G>A (p.Arg133His) rs997305566 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.994C>T (p.His332Tyr) rs141448923 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.321G>C (p.Gln107His) rs104886040 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.517G>A (p.Val173Met) rs752395232 0.00002
NM_002641.4(PIGA):c.715+5T>C rs762891698 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.1337G>A (p.Arg446Gln) rs536081800 0.00002
NM_022436.3(ABCG5):c.599G>A (p.Arg200Gln) rs751809765 0.00002
NM_022436.3(ABCG5):c.827C>T (p.Thr276Met) rs368800131 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.17T>C (p.Val6Ala) rs767770355 0.00002
NM_032634.4(PIGO):c.1831A>G (p.Thr611Ala) rs774281466 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.3113T>G (p.Leu1038Arg) rs761199326 0.00002
NM_032634.4(PIGO):c.3178G>A (p.Val1060Met) rs551920425 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.859G>A (p.Gly287Arg) rs780295527 0.00002
NM_000116.5(TAFAZZIN):c.210G>C (p.Gln70His) rs977521848 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.535C>G (p.Pro179Ala) rs397515744 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.689G>A (p.Arg230His) rs782655300 0.00001
NM_000116.5(TAFAZZIN):c.850C>T (p.Leu284Phe) rs782523340 0.00001
NM_000235.4(LIPA):c.1106T>C (p.Ile369Thr) rs747214463 0.00001
NM_000235.4(LIPA):c.1120C>T (p.His374Tyr) rs367664486 0.00001
NM_000235.4(LIPA):c.229+6G>A rs778866130 0.00001
NM_000235.4(LIPA):c.558G>T (p.Gln186His) rs1357894906 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.746C>T (p.Thr249Ile) rs373857537 0.00001
NM_000235.4(LIPA):c.761A>T (p.Lys254Met) rs779125462 0.00001
NM_000431.4(MVK):c.1006G>A (p.Gly336Ser) rs104895358 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.118C>T (p.Arg40Trp) rs1055952433 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.197G>A (p.Arg66Lys) rs757565098 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.372-3C>T rs104895354 0.00001
NM_000431.4(MVK):c.380C>T (p.Pro127Leu) rs775474803 0.00001
NM_000431.4(MVK):c.484G>A (p.Glu162Lys) rs200457031 0.00001
NM_000431.4(MVK):c.565G>T (p.Ala189Ser) rs1403009347 0.00001
NM_000431.4(MVK):c.592G>C (p.Gly198Arg) rs202172198 0.00001
NM_000431.4(MVK):c.631+3A>G rs1178525841 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.886-2dup rs1332047942 0.00001
NM_000431.4(MVK):c.89C>T (p.Ala30Val) rs769000203 0.00001
NM_000431.4(MVK):c.961G>A (p.Val321Met) rs779869991 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.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.1195G>T (p.Val399Leu) rs1453048118 0.00001
NM_000784.4(CYP27A1):c.1263C>T (p.Asn421=) rs748358246 0.00001
NM_000784.4(CYP27A1):c.1309G>T (p.Ala437Ser) rs1337764272 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.1520A>T (p.Glu507Val) rs767162764 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.1573C>A (p.Gln525Lys) rs374507635 0.00001
NM_000784.4(CYP27A1):c.158G>T (p.Arg53Leu) rs376993392 0.00001
NM_000784.4(CYP27A1):c.1591del (p.Cys531fs) rs755723759 0.00001
NM_000784.4(CYP27A1):c.203T>G (p.Phe68Cys) rs587780327 0.00001
NM_000784.4(CYP27A1):c.256-3C>T rs1559391389 0.00001
NM_000784.4(CYP27A1):c.2T>C (p.Met1Thr) rs759003992 0.00001
NM_000784.4(CYP27A1):c.335C>T (p.Pro112Leu) rs531504325 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.416A>G (p.Gln139Arg) rs1253807962 0.00001
NM_000784.4(CYP27A1):c.443C>G (p.Thr148Ser) rs1404621754 0.00001
NM_000784.4(CYP27A1):c.484A>C (p.Asn162His) rs1235744900 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.667G>A (p.Glu223Lys) rs760323157 0.00001
NM_000784.4(CYP27A1):c.68A>C (p.His23Pro) rs1943398664 0.00001
NM_000784.4(CYP27A1):c.733G>A (p.Gly245Arg) rs746666035 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.883G>C (p.Ala295Pro) rs371133296 0.00001
NM_000784.4(CYP27A1):c.968G>A (p.Arg323Gln) rs769640126 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.1331A>G (p.Glu444Gly) rs1215019860 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.1462G>A (p.Val488Ile) rs780904126 0.00001
NM_001127178.3(PIGG):c.1511C>T (p.Ser504Leu) rs770538814 0.00001
NM_001127178.3(PIGG):c.1568T>C (p.Val523Ala) rs1385893204 0.00001
NM_001127178.3(PIGG):c.1622T>C (p.Met541Thr) rs181098265 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.182C>G (p.Pro61Arg) rs561293197 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.1880G>A (p.Gly627Asp) rs768176283 0.00001
NM_001127178.3(PIGG):c.1925C>T (p.Thr642Ile) rs1222148392 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.2030A>C (p.Gln677Pro) rs773058327 0.00001
NM_001127178.3(PIGG):c.2042G>A (p.Arg681Gln) rs996876333 0.00001
NM_001127178.3(PIGG):c.2122G>A (p.Val708Ile) rs1727843012 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.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.2261A>G (p.Lys754Arg) rs1460635221 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.2499G>C (p.Lys833Asn) rs1056486559 0.00001
NM_001127178.3(PIGG):c.251C>T (p.Ser84Leu) rs1576991286 0.00001
NM_001127178.3(PIGG):c.2527A>T (p.Thr843Ser) rs767057575 0.00001
NM_001127178.3(PIGG):c.2555C>A (p.Ala852Glu) rs749071064 0.00001
NM_001127178.3(PIGG):c.2618T>C (p.Val873Ala) rs757434253 0.00001
NM_001127178.3(PIGG):c.2635G>A (p.Val879Met) rs780094078 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.2731C>T (p.Arg911Cys) rs781165955 0.00001
NM_001127178.3(PIGG):c.2872G>A (p.Glu958Lys) rs775379047 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.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.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.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.940G>A (p.Val314Met) rs1335469607 0.00001
NM_001127178.3(PIGG):c.974C>T (p.Pro325Leu) rs746660978 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.1147G>A (p.Ala383Thr) rs774683671 0.00001
NM_001166114.2(PNPLA6):c.1304G>A (p.Arg435Gln) rs376174058 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.1537T>G (p.Ser513Ala) rs1306308836 0.00001
NM_001166114.2(PNPLA6):c.1538C>T (p.Ser513Phe) rs1351660925 0.00001
NM_001166114.2(PNPLA6):c.1570G>A (p.Ala524Thr) rs763642095 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.1696G>A (p.Ala566Thr) rs200855333 0.00001
NM_001166114.2(PNPLA6):c.1759C>G (p.Leu587Val) rs757260835 0.00001
NM_001166114.2(PNPLA6):c.1853C>T (p.Ala618Val) rs568356836 0.00001
NM_001166114.2(PNPLA6):c.1876T>G (p.Ser626Ala) rs1484050135 0.00001
NM_001166114.2(PNPLA6):c.2107G>T (p.Val703Leu) rs979155811 0.00001
NM_001166114.2(PNPLA6):c.2148G>T (p.Glu716Asp) rs1425497937 0.00001
NM_001166114.2(PNPLA6):c.2184+4C>T rs569845262 0.00001
NM_001166114.2(PNPLA6):c.226G>A (p.Val76Met) rs749575421 0.00001
NM_001166114.2(PNPLA6):c.2329A>G (p.Ile777Val) rs752227045 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.238C>T (p.Pro80Ser) rs772575811 0.00001
NM_001166114.2(PNPLA6):c.2401+6T>C rs368277076 0.00001
NM_001166114.2(PNPLA6):c.2440C>T (p.Arg814Cys) rs531445564 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.2543C>T (p.Ala848Val) rs760534400 0.00001
NM_001166114.2(PNPLA6):c.2632C>G (p.Gln878Glu) rs369420098 0.00001
NM_001166114.2(PNPLA6):c.2956G>A (p.Val986Ile) rs1400699469 0.00001
NM_001166114.2(PNPLA6):c.3019T>G (p.Ser1007Ala) rs775899903 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.3146C>T (p.Ser1049Phe) rs2023885542 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.3210+3A>G rs1167974266 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.3314C>T (p.Thr1105Met) rs1202026658 0.00001
NM_001166114.2(PNPLA6):c.3376G>A (p.Gly1126Ser) rs1204028385 0.00001
NM_001166114.2(PNPLA6):c.3481G>A (p.Gly1161Arg) rs776490050 0.00001
NM_001166114.2(PNPLA6):c.3590C>A (p.Ser1197Tyr) rs746492824 0.00001
NM_001166114.2(PNPLA6):c.3633C>T (p.Cys1211=) rs200413993 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.3703G>A (p.Val1235Met) rs745714280 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.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.4064C>T (p.Pro1355Leu) rs2024101144 0.00001
NM_001166114.2(PNPLA6):c.414-3C>G rs1312058418 0.00001
NM_001166114.2(PNPLA6):c.599G>A (p.Arg200His) rs749879325 0.00001
NM_001166114.2(PNPLA6):c.647C>T (p.Pro216Leu) rs777837588 0.00001
NM_001166114.2(PNPLA6):c.713C>T (p.Pro238Leu) rs763499274 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.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.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.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.637G>A (p.Gly213Arg) rs145283085 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.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.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.1225G>A (p.Val409Ile) rs757861528 0.00001
NM_001360.3(DHCR7):c.232G>A (p.Gly78Arg) rs373352413 0.00001
NM_001360.3(DHCR7):c.412+4G>A rs776841323 0.00001
NM_001360.3(DHCR7):c.484G>A (p.Ala162Thr) rs767716202 0.00001
NM_001360.3(DHCR7):c.52G>A (p.Val18Ile) rs770947907 0.00001
NM_001360.3(DHCR7):c.616G>A (p.Ala206Thr) rs542744675 0.00001
NM_001360.3(DHCR7):c.658A>T (p.Met220Leu) rs200659923 0.00001
NM_001360.3(DHCR7):c.823G>A (p.Val275Ile) rs775628929 0.00001
NM_001360.3(DHCR7):c.947A>G (p.Tyr316Cys) rs754992933 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.1418G>C (p.Arg473Thr) rs773189052 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.300G>T (p.Gln100His) rs757482806 0.00001
NM_002641.4(PIGA):c.305C>T (p.Thr102Ile) rs754050083 0.00001
NM_002641.4(PIGA):c.400A>G (p.Met134Val) rs1922154798 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.854G>A (p.Arg285His) rs1569178381 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_022436.3(ABCG5):c.1049C>T (p.Thr350Met) rs148131742 0.00001
NM_022436.3(ABCG5):c.121C>G (p.Leu41Val) rs1030894919 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.1711T>C (p.Cys571Arg) rs370371131 0.00001
NM_022436.3(ABCG5):c.1775T>C (p.Val592Ala) rs777055543 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.365G>A (p.Arg122Gln) rs555463051 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.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.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.1255G>A (p.Ala419Thr) rs879658217 0.00001
NM_032634.4(PIGO):c.1256C>T (p.Ala419Val) rs777439274 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.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.1441C>T (p.Pro481Ser) rs146556990 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.1708G>A (p.Ala570Thr) rs767046819 0.00001
NM_032634.4(PIGO):c.1720C>T (p.Pro574Ser) rs765632190 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.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.2285C>T (p.Pro762Leu) rs767539954 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.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.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.2555C>T (p.Ala852Val) rs768909165 0.00001
NM_032634.4(PIGO):c.2584C>G (p.Leu862Val) rs377645902 0.00001
NM_032634.4(PIGO):c.2612A>C (p.His871Pro) rs909488930 0.00001
NM_032634.4(PIGO):c.2663C>A (p.Pro888Gln) rs1829377572 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.2803C>T (p.Pro935Ser) rs1160072970 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.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.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.342G>T (p.Gln114His) rs1470054515 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.460G>A (p.Ala154Thr) rs201813691 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.531G>A (p.Met177Ile) rs769886723 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.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.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.95G>A (p.Arg32His) rs550039576 0.00001
NM_032634.4(PIGO):c.961G>C (p.Val321Leu) rs1829514232 0.00001
NC_000002.11:g.(?_44001278)_(44209593_?)dup
NC_000002.11:g.(?_44047034)_(44047259_?)del
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)_(517722_?)dup
NC_000004.11:g.(?_493125)_(533158_?)dup
NC_000004.11:g.(?_514825)_(533158_?)dup
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_?)dup
NC_000010.10:g.(?_90974585)_(91222335_?)dup
NC_000012.11:g.(?_109921357)_(110034382_?)dup
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.7535557G>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_000019.9:g.(?_7527018)_(7624057_?)dup
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.(?_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_000023.11:g.(?_15321486)_(15335533_?)dup
NM_000116.5(TAFAZZIN):c.100T>A (p.Phe34Ile)
NM_000116.5(TAFAZZIN):c.110-18C>T
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.13G>A (p.Val5Met)
NM_000116.5(TAFAZZIN):c.145G>C (p.Val49Leu)
NM_000116.5(TAFAZZIN):c.154G>C (p.Glu52Gln)
NM_000116.5(TAFAZZIN):c.162C>G (p.Ile54Met)
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.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.222C>G (p.Asp74Glu)
NM_000116.5(TAFAZZIN):c.223G>T (p.Asp75Tyr)
NM_000116.5(TAFAZZIN):c.227C>T (p.Pro76Leu) rs878853654
NM_000116.5(TAFAZZIN):c.230A>G (p.His77Arg) rs794729173
NM_000116.5(TAFAZZIN):c.233T>A (p.Leu78His)
NM_000116.5(TAFAZZIN):c.238+6C>T rs781786197
NM_000116.5(TAFAZZIN):c.243C>G (p.Ile81Met)
NM_000116.5(TAFAZZIN):c.250C>T (p.Leu84Phe)
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.28C>T (p.Pro10Ser)
NM_000116.5(TAFAZZIN):c.293C>T (p.Ala98Val)
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.314C>T (p.Thr105Ile)
NM_000116.5(TAFAZZIN):c.322C>A (p.Leu108Ile)
NM_000116.5(TAFAZZIN):c.334T>C (p.Phe112Leu) rs1281729528
NM_000116.5(TAFAZZIN):c.368G>C (p.Arg123Pro)
NM_000116.5(TAFAZZIN):c.370+2T>A
NM_000116.5(TAFAZZIN):c.370G>A (p.Gly124Arg)
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.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.460G>A (p.Gly154Arg) rs2068414496
NM_000116.5(TAFAZZIN):c.461-10_461-5del
NM_000116.5(TAFAZZIN):c.461-3C>A
NM_000116.5(TAFAZZIN):c.47C>G (p.Thr16Ser) rs1227132566
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.53C>T (p.Thr18Ile)
NM_000116.5(TAFAZZIN):c.541+13_541+28del
NM_000116.5(TAFAZZIN):c.541+3C>G rs1557193865
NM_000116.5(TAFAZZIN):c.541+5G>A rs2068571041
NM_000116.5(TAFAZZIN):c.541G>A (p.Gly181Arg)
NM_000116.5(TAFAZZIN):c.542-3C>T
NM_000116.5(TAFAZZIN):c.542-9T>C
NM_000116.5(TAFAZZIN):c.542G>A (p.Gly181Glu) rs2068574531
NM_000116.5(TAFAZZIN):c.549G>T (p.Val183=)
NM_000116.5(TAFAZZIN):c.572G>A (p.Arg191His) rs876661034
NM_000116.5(TAFAZZIN):c.572G>C (p.Arg191Pro)
NM_000116.5(TAFAZZIN):c.578A>T (p.Lys193Met)
NM_000116.5(TAFAZZIN):c.583G>A (p.Gly195Arg) rs878853656
NM_000116.5(TAFAZZIN):c.584G>A (p.Gly195Glu)
NM_000116.5(TAFAZZIN):c.586A>G (p.Ile196Val)
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.645C>T (p.Val215=)
NM_000116.5(TAFAZZIN):c.646+5G>T
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.682T>C (p.Phe228Leu)
NM_000116.5(TAFAZZIN):c.696A>G (p.Gly232=)
NM_000116.5(TAFAZZIN):c.699+6T>G
NM_000116.5(TAFAZZIN):c.699+6del
NM_000116.5(TAFAZZIN):c.700-13G>A
NM_000116.5(TAFAZZIN):c.702A>G (p.Lys234=)
NM_000116.5(TAFAZZIN):c.707C>T (p.Thr236Ile)
NM_000116.5(TAFAZZIN):c.709G>A (p.Val237Met)
NM_000116.5(TAFAZZIN):c.718G>T (p.Gly240Trp)
NM_000116.5(TAFAZZIN):c.725C>T (p.Pro242Leu)
NM_000116.5(TAFAZZIN):c.727T>A (p.Phe243Ile)
NM_000116.5(TAFAZZIN):c.745C>A (p.Leu249Ile)
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.773C>T (p.Ser258Leu) rs2068606445
NM_000116.5(TAFAZZIN):c.776C>T (p.Ala259Val)
NM_000116.5(TAFAZZIN):c.777+3G>A rs2068606988
NM_000116.5(TAFAZZIN):c.777+6T>C rs782175712
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.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.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.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.872G>A (p.Gly291Glu)
NM_000116.5(TAFAZZIN):c.89C>T (p.Thr30Ile) rs2068315101
NM_000116.5(TAFAZZIN):c.92A>G (p.Tyr31Cys)
NM_000116.5(TAFAZZIN):c.98G>T (p.Cys33Phe)
NM_000235.4(LIPA):c.1004T>C (p.Val335Ala)
NM_000235.4(LIPA):c.1007C>T (p.Pro336Leu)
NM_000235.4(LIPA):c.1020G>T (p.Trp340Cys) rs1842605430
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.1039C>A (p.Leu347Ile) rs1455189146
NM_000235.4(LIPA):c.1043C>T (p.Ala348Val) rs757819577
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.1133T>C (p.Ile378Thr) rs778013279
NM_000235.4(LIPA):c.1145A>T (p.Asp382Val)
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.1185G>A (p.Met395Ile) rs1842600141
NM_000235.4(LIPA):c.1193A>G (p.Tyr398Cys) rs2133411240
NM_000235.4(LIPA):c.130T>G (p.Trp44Gly)
NM_000235.4(LIPA):c.134G>C (p.Gly45Ala)
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.158T>A (p.Val53Asp)
NM_000235.4(LIPA):c.176A>G (p.Tyr59Cys)
NM_000235.4(LIPA):c.185G>T (p.Cys62Phe)
NM_000235.4(LIPA):c.204T>G (p.His68Gln)
NM_000235.4(LIPA):c.245T>C (p.Val82Ala) rs1298273048
NM_000235.4(LIPA):c.257A>G (p.His86Arg) rs1842798350
NM_000235.4(LIPA):c.264G>T (p.Leu88Phe)
NM_000235.4(LIPA):c.266T>C (p.Leu89Pro) rs2133436727
NM_000235.4(LIPA):c.282C>A (p.Asn94Lys)
NM_000235.4(LIPA):c.302A>G (p.Asn101Ser)
NM_000235.4(LIPA):c.361A>G (p.Arg121Gly) rs912441212
NM_000235.4(LIPA):c.365G>T (p.Gly122Val)
NM_000235.4(LIPA):c.392C>A (p.Thr131Lys)
NM_000235.4(LIPA):c.404C>T (p.Ser135Phe)
NM_000235.4(LIPA):c.416T>G (p.Phe139Cys) rs2133436092
NM_000235.4(LIPA):c.473T>G (p.Phe158Cys)
NM_000235.4(LIPA):c.481A>T (p.Asn161Tyr)
NM_000235.4(LIPA):c.50T>C (p.Leu17Pro) rs886047472
NM_000235.4(LIPA):c.511G>T (p.Val171Leu)
NM_000235.4(LIPA):c.538+4T>A rs779872404
NM_000235.4(LIPA):c.547G>T (p.Ala183Ser)
NM_000235.4(LIPA):c.566A>C (p.Glu189Ala) rs2133429645
NM_000235.4(LIPA):c.56C>T (p.Ser19Phe)
NM_000235.4(LIPA):c.591T>G (p.Phe197Leu)
NM_000235.4(LIPA):c.611C>T (p.Ala204Val)
NM_000235.4(LIPA):c.616G>A (p.Val206Ile) rs756878837
NM_000235.4(LIPA):c.619G>A (p.Ala207Thr)
NM_000235.4(LIPA):c.624C>G (p.Phe208Leu)
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.658C>T (p.Pro220Ser)
NM_000235.4(LIPA):c.666T>A (p.His222Gln)
NM_000235.4(LIPA):c.667C>T (p.Leu223Phe) rs1161698310
NM_000235.4(LIPA):c.697T>C (p.Phe233Leu)
NM_000235.4(LIPA):c.712G>A (p.Ala238Thr) rs1842732425
NM_000235.4(LIPA):c.739G>A (p.Val247Ile)
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.781T>C (p.Cys261Arg) rs1842730482
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.877A>C (p.Met293Leu) rs764343762
NM_000235.4(LIPA):c.894+6C>T
NM_000235.4(LIPA):c.895-3T>A
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.922T>G (p.Phe308Val) rs751625944
NM_000235.4(LIPA):c.940G>A (p.Ala314Thr)
NM_000235.4(LIPA):c.944A>G (p.Lys315Arg)
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.980C>T (p.Thr327Ile)
NM_000235.4(LIPA):c.999G>A (p.Met333Ile)
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.1040-6_1040-5inv
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.1066A>G (p.Thr356Ala)
NM_000431.4(MVK):c.1067C>A (p.Thr356Lys) rs104895342
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.1088G>A (p.Cys363Tyr)
NM_000431.4(MVK):c.1096G>C (p.Asp366His) rs1566153793
NM_000431.4(MVK):c.1096G>T (p.Asp366Tyr)
NM_000431.4(MVK):c.1124C>T (p.Pro375Leu)
NM_000431.4(MVK):c.1135A>G (p.Ile379Val)
NM_000431.4(MVK):c.1142C>T (p.Ser381Leu)
NM_000431.4(MVK):c.1175C>T (p.Ala392Val) rs1189179026
NM_000431.4(MVK):c.1189T>C (p.Ter397Arg) rs1555279757
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.134_135delinsAA (p.Ser45Lys)
NM_000431.4(MVK):c.172A>G (p.Ile58Val)
NM_000431.4(MVK):c.179G>A (p.Arg60Gln)
NM_000431.4(MVK):c.187G>A (p.Asp63Asn) rs1884939365
NM_000431.4(MVK):c.194C>G (p.Ala65Gly)
NM_000431.4(MVK):c.194C>T (p.Ala65Val)
NM_000431.4(MVK):c.203A>G (p.Gln68Arg)
NM_000431.4(MVK):c.227-7G>A
NM_000431.4(MVK):c.230A>G (p.Gln77Arg)
NM_000431.4(MVK):c.244A>G (p.Thr82Ala) rs2136224465
NM_000431.4(MVK):c.254C>T (p.Ser85Leu) rs1885131607
NM_000431.4(MVK):c.274A>C (p.Lys92Gln)
NM_000431.4(MVK):c.280G>A (p.Val94Ile)
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.341A>G (p.Tyr114Cys)
NM_000431.4(MVK):c.349C>G (p.Leu117Val) rs374204972
NM_000431.4(MVK):c.350T>C (p.Leu117Pro)
NM_000431.4(MVK):c.368A>T (p.Gln123Leu) rs978964462
NM_000431.4(MVK):c.371+1GT[4] rs1337419856
NM_000431.4(MVK):c.371+4T>C rs1885141606
NM_000431.4(MVK):c.372G>A (p.Arg124=)
NM_000431.4(MVK):c.37A>C (p.Lys13Gln) rs104895307
NM_000431.4(MVK):c.398T>G (p.Val133Gly)
NM_000431.4(MVK):c.415C>G (p.Pro139Ala)
NM_000431.4(MVK):c.419G>T (p.Gly140Val)
NM_000431.4(MVK):c.451G>T (p.Val151Leu) rs1885215026
NM_000431.4(MVK):c.458T>C (p.Leu153Pro)
NM_000431.4(MVK):c.479T>A (p.Val160Glu)
NM_000431.4(MVK):c.491T>A (p.Ile164Asn)
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.528-3C>T
NM_000431.4(MVK):c.562T>G (p.Trp188Gly)
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.621C>A (p.Val207=)
NM_000431.4(MVK):c.626C>T (p.Thr209Ile)
NM_000431.4(MVK):c.631+3A>T
NM_000431.4(MVK):c.632-19_632-18inv
NM_000431.4(MVK):c.632-3T>A rs2136238080
NM_000431.4(MVK):c.632-3del rs1885451714
NM_000431.4(MVK):c.641T>A (p.Leu214His)
NM_000431.4(MVK):c.64G>C (p.Val22Leu) rs1217259118
NM_000431.4(MVK):c.653A>C (p.Gln218Pro) rs2136238122
NM_000431.4(MVK):c.659A>C (p.Lys220Thr)
NM_000431.4(MVK):c.677+5C>A
NM_000431.4(MVK):c.677G>A (p.Arg226Lys)
NM_000431.4(MVK):c.678-3C>A rs1885632836
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.6G>C (p.Leu2Phe)
NM_000431.4(MVK):c.709A>G (p.Thr237Ala)
NM_000431.4(MVK):c.719C>G (p.Pro240Arg) rs1458254066
NM_000431.4(MVK):c.71A>C (p.His24Pro)
NM_000431.4(MVK):c.724A>G (p.Asn242Asp) rs1885636019
NM_000431.4(MVK):c.748G>T (p.Val250Phe)
NM_000431.4(MVK):c.752G>A (p.Arg251Lys) rs1885638229
NM_000431.4(MVK):c.775G>A (p.Glu259Lys) rs1885663402
NM_000431.4(MVK):c.778A>T (p.Ile260Phe)
NM_000431.4(MVK):c.781G>A (p.Val261Met)
NM_000431.4(MVK):c.784G>T (p.Ala262Ser) rs1386402188
NM_000431.4(MVK):c.790C>G (p.Leu264Val)
NM_000431.4(MVK):c.805G>A (p.Asp269Asn)
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.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.846G>A (p.Met282Ile)
NM_000431.4(MVK):c.865G>C (p.Glu289Gln) rs1406107674
NM_000431.4(MVK):c.86T>C (p.Leu29Pro)
NM_000431.4(MVK):c.898A>G (p.Met300Val)
NM_000431.4(MVK):c.901A>C (p.Asn301His)
NM_000431.4(MVK):c.938C>A (p.Ala313Asp)
NM_000431.4(MVK):c.938C>T (p.Ala313Val)
NM_000431.4(MVK):c.952C>A (p.Leu318Ile)
NM_000431.4(MVK):c.973C>T (p.Arg325Cys)
NM_000431.4(MVK):c.986G>A (p.Ser329Asn) rs104895350
NM_000431.4(MVK):c.998G>A (p.Gly333Asp)
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+5G>C rs370304209
NM_000784.4(CYP27A1):c.1028C>G (p.Thr343Arg) rs372194079
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.1060G>A (p.Asp354Asn) rs2105980881
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.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.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.1114G>T (p.Gly372Trp) rs369969903
NM_000784.4(CYP27A1):c.1117C>A (p.Gln373Lys) rs536176295
NM_000784.4(CYP27A1):c.1121T>A (p.Val374Glu) rs1943755995
NM_000784.4(CYP27A1):c.1130A>G (p.His377Arg)
NM_000784.4(CYP27A1):c.1145A>C (p.His382Pro)
NM_000784.4(CYP27A1):c.1162G>T (p.Ala388Ser)
NM_000784.4(CYP27A1):c.1165G>A (p.Val389Met) rs2105980957
NM_000784.4(CYP27A1):c.1174G>C (p.Glu392Gln)
NM_000784.4(CYP27A1):c.1184+3A>G rs1943757633
NM_000784.4(CYP27A1):c.1196T>C (p.Val399Ala) rs2105981055
NM_000784.4(CYP27A1):c.1196T>G (p.Val399Gly)
NM_000784.4(CYP27A1):c.1210T>C (p.Ser404Pro)
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.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.1263+5G>A
NM_000784.4(CYP27A1):c.1264-14A>G rs1285698631
NM_000784.4(CYP27A1):c.1273G>C (p.Val425Leu)
NM_000784.4(CYP27A1):c.1273G>T (p.Val425Leu)
NM_000784.4(CYP27A1):c.1282C>T (p.His428Tyr) rs749202662
NM_000784.4(CYP27A1):c.1286A>C (p.Tyr429Ser) rs774127681
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.1328G>T (p.Ser443Ile)
NM_000784.4(CYP27A1):c.1336C>G (p.Pro446Ala) rs753166698
NM_000784.4(CYP27A1):c.1336C>T (p.Pro446Ser)
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.1379T>G (p.Ile460Ser)
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.1409G>T (p.Gly470Val)
NM_000784.4(CYP27A1):c.1412A>T (p.Tyr471Phe)
NM_000784.4(CYP27A1):c.1415G>A (p.Gly472Glu) rs200883871
NM_000784.4(CYP27A1):c.1427G>A (p.Cys476Tyr) rs1372707807
NM_000784.4(CYP27A1):c.1440G>C (p.Arg480Ser)
NM_000784.4(CYP27A1):c.1444G>T (p.Ala482Ser)
NM_000784.4(CYP27A1):c.1457T>C (p.Met486Thr) rs2105981320
NM_000784.4(CYP27A1):c.1463T>C (p.Leu488Pro)
NM_000784.4(CYP27A1):c.1466T>A (p.Leu489His) rs2105981325
NM_000784.4(CYP27A1):c.1472C>T (p.Ala491Val) rs1024898619
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.1477-8C>G
NM_000784.4(CYP27A1):c.1477C>A (p.Leu493Met)
NM_000784.4(CYP27A1):c.1499T>C (p.Val500Ala)
NM_000784.4(CYP27A1):c.14G>A (p.Gly5Asp) rs1943396793
NM_000784.4(CYP27A1):c.1508C>T (p.Pro503Leu) rs776752717
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.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.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.1540A>G (p.Ile514Val) rs1178180058
NM_000784.4(CYP27A1):c.1547T>A (p.Leu516Gln)
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.157C>G (p.Arg53Gly) rs757522001
NM_000784.4(CYP27A1):c.157C>T (p.Arg53Trp)
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.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.185G>A (p.Arg62His)
NM_000784.4(CYP27A1):c.185G>C (p.Arg62Pro)
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.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.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.232G>C (p.Ala78Pro)
NM_000784.4(CYP27A1):c.233C>G (p.Ala78Gly) rs867496731
NM_000784.4(CYP27A1):c.247C>G (p.Gln83Glu) rs2106479200
NM_000784.4(CYP27A1):c.255G>A (p.Gln85=)
NM_000784.4(CYP27A1):c.256G>T (p.Val86Leu)
NM_000784.4(CYP27A1):c.259C>T (p.Leu87Phe) rs1170171291
NM_000784.4(CYP27A1):c.26T>C (p.Leu9Pro)
NM_000784.4(CYP27A1):c.290T>G (p.Met97Arg)
NM_000784.4(CYP27A1):c.29G>A (p.Arg10Lys)
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.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.350T>C (p.Val117Ala)
NM_000784.4(CYP27A1):c.356G>A (p.Arg119Gln)
NM_000784.4(CYP27A1):c.371A>T (p.Tyr124Phe)
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.401A>C (p.Lys134Thr)
NM_000784.4(CYP27A1):c.412G>C (p.Asp138His)
NM_000784.4(CYP27A1):c.420C>A (p.His140Gln) rs139415581
NM_000784.4(CYP27A1):c.421G>A (p.Asp141Asn)
NM_000784.4(CYP27A1):c.437C>T (p.Pro146Leu)
NM_000784.4(CYP27A1):c.447-3C>A
NM_000784.4(CYP27A1):c.455A>C (p.His152Pro) rs768932304
NM_000784.4(CYP27A1):c.455A>T (p.His152Leu)
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.506C>G (p.Ala169Gly) rs59443548
NM_000784.4(CYP27A1):c.517C>T (p.Leu173Phe)
NM_000784.4(CYP27A1):c.52C>T (p.Arg18Cys)
NM_000784.4(CYP27A1):c.530C>T (p.Ala177Val) rs773103625
NM_000784.4(CYP27A1):c.538G>A (p.Glu180Lys) rs1943725580
NM_000784.4(CYP27A1):c.550G>A (p.Asp184Asn)
NM_000784.4(CYP27A1):c.559A>G (p.Thr187Ala)
NM_000784.4(CYP27A1):c.563G>T (p.Arg188Leu)
NM_000784.4(CYP27A1):c.56G>C (p.Gly19Ala) rs1203579586
NM_000784.4(CYP27A1):c.580G>A (p.Ala194Thr)
NM_000784.4(CYP27A1):c.590C>G (p.Ala197Gly)
NM_000784.4(CYP27A1):c.595G>A (p.Gly199Arg) rs2105980019
NM_000784.4(CYP27A1):c.628T>C (p.Tyr210His)
NM_000784.4(CYP27A1):c.641T>C (p.Leu214Ser) rs2105980045
NM_000784.4(CYP27A1):c.647-3C>A rs1943729710
NM_000784.4(CYP27A1):c.649A>C (p.Ile217Leu) rs886042256
NM_000784.4(CYP27A1):c.659T>A (p.Ile220Asn) rs1559392536
NM_000784.4(CYP27A1):c.667G>C (p.Glu223Gln) rs760323157
NM_000784.4(CYP27A1):c.674G>T (p.Arg225Leu)
NM_000784.4(CYP27A1):c.682T>C (p.Cys228Arg) rs1553616268
NM_000784.4(CYP27A1):c.692G>A (p.Arg231Gln)
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.706G>A (p.Asp236Asn) rs144068826
NM_000784.4(CYP27A1):c.710C>T (p.Thr237Ile)
NM_000784.4(CYP27A1):c.721G>A (p.Val241Ile) rs369660141
NM_000784.4(CYP27A1):c.721G>T (p.Val241Phe)
NM_000784.4(CYP27A1):c.746A>T (p.Gln249Leu)
NM_000784.4(CYP27A1):c.749A>G (p.Asn250Ser)
NM_000784.4(CYP27A1):c.751T>C (p.Ser251Pro)
NM_000784.4(CYP27A1):c.758A>G (p.Tyr253Cys)
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.785G>A (p.Arg262His) rs757682669
NM_000784.4(CYP27A1):c.785G>T (p.Arg262Leu) rs757682669
NM_000784.4(CYP27A1):c.794T>C (p.Leu265Pro)
NM_000784.4(CYP27A1):c.802T>C (p.Trp268Arg) rs535323883
NM_000784.4(CYP27A1):c.821G>C (p.Gly274Ala) rs1167915356
NM_000784.4(CYP27A1):c.828T>G (p.Asn276Lys) rs774999308
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.851A>G (p.Lys284Arg)
NM_000784.4(CYP27A1):c.85G>A (p.Ala29Thr)
NM_000784.4(CYP27A1):c.862G>A (p.Glu288Lys) rs2105980394
NM_000784.4(CYP27A1):c.868C>T (p.Leu290Phe) rs2105980402
NM_000784.4(CYP27A1):c.869T>C (p.Leu290Pro)
NM_000784.4(CYP27A1):c.877A>T (p.Met293Leu) rs1412455358
NM_000784.4(CYP27A1):c.884C>A (p.Ala295Asp)
NM_000784.4(CYP27A1):c.884C>T (p.Ala295Val) rs1417655712
NM_000784.4(CYP27A1):c.905C>A (p.Pro302Gln)
NM_000784.4(CYP27A1):c.917A>G (p.Gln306Arg)
NM_000784.4(CYP27A1):c.923C>T (p.Ser308Phe) rs2105980439
NM_000784.4(CYP27A1):c.932T>A (p.Leu311Gln)
NM_000784.4(CYP27A1):c.935A>C (p.His312Pro) rs1275856308
NM_000784.4(CYP27A1):c.942A>T (p.Leu314Phe)
NM_000784.4(CYP27A1):c.970G>A (p.Glu324Lys) rs2105980462
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.988C>T (p.Pro330Ser) rs1399829248
NM_000784.4(CYP27A1):c.995T>G (p.Leu332Arg)
NM_000784.4(CYP27A1):c.9_10delinsAA (p.Leu4Met)
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.1046_1060dup (p.Arg349_Leu353dup) rs2108885433
NM_001127178.3(PIGG):c.1058T>G (p.Leu353Trp)
NM_001127178.3(PIGG):c.1067T>C (p.Val356Ala)
NM_001127178.3(PIGG):c.1081C>G (p.Leu361Val)
NM_001127178.3(PIGG):c.1100C>T (p.Pro367Leu)
NM_001127178.3(PIGG):c.110G>C (p.Arg37Thr) rs782188298
NM_001127178.3(PIGG):c.1114+3C>T rs2108886203
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.1140G>T (p.Met380Ile)
NM_001127178.3(PIGG):c.1148G>T (p.Arg383Ile) rs748283787
NM_001127178.3(PIGG):c.1167C>G (p.Ile389Met)
NM_001127178.3(PIGG):c.1175A>G (p.Tyr392Cys) rs2108940084
NM_001127178.3(PIGG):c.1199T>C (p.Val400Ala) rs2108940330
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.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.1243G>T (p.Ala415Ser) rs1725754692
NM_001127178.3(PIGG):c.1244C>T (p.Ala415Val)
NM_001127178.3(PIGG):c.1255C>A (p.Leu419Met)
NM_001127178.3(PIGG):c.1258A>C (p.Ser420Arg) rs2108941260
NM_001127178.3(PIGG):c.1277A>G (p.Gln426Arg) rs2108941430
NM_001127178.3(PIGG):c.1291_1293del (p.Asp431del) rs748953729
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+5A>G rs2108942421
NM_001127178.3(PIGG):c.1364A>T (p.Gln455Leu) rs1390150253
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.1403C>T (p.Ser468Leu) rs2108947315
NM_001127178.3(PIGG):c.1408C>T (p.Pro470Ser) rs2108947384
NM_001127178.3(PIGG):c.1455C>A (p.Ala485=) rs780294885
NM_001127178.3(PIGG):c.1457T>C (p.Val486Ala) rs2108948014
NM_001127178.3(PIGG):c.1465A>G (p.Ile489Val)
NM_001127178.3(PIGG):c.1490C>T (p.Ser497Leu) rs755547556
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.1533_1534delinsTT (p.Met512Leu) rs2108949014
NM_001127178.3(PIGG):c.154+6G>C rs1716739603
NM_001127178.3(PIGG):c.1543G>A (p.Ala515Thr) rs749179747
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.1607C>T (p.Pro536Leu) rs2108950276
NM_001127178.3(PIGG):c.1614+4C>T
NM_001127178.3(PIGG):c.1618C>A (p.Pro540Thr) rs768849981
NM_001127178.3(PIGG):c.1619C>A (p.Pro540His)
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.164C>G (p.Ser55Cys) rs34120878
NM_001127178.3(PIGG):c.1654CTT[1] (p.Leu553del) rs774246524
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.1694T>C (p.Leu565Pro)
NM_001127178.3(PIGG):c.1706G>C (p.Ser569Thr)
NM_001127178.3(PIGG):c.1711G>A (p.Val571Met) rs770091281
NM_001127178.3(PIGG):c.1736A>C (p.Tyr579Ser) rs2108966234
NM_001127178.3(PIGG):c.1740C>G (p.Phe580Leu) rs1361645394
NM_001127178.3(PIGG):c.1753C>G (p.Leu585Val)
NM_001127178.3(PIGG):c.1754_1755insTGT (p.Leu585_Cys586insVal)
NM_001127178.3(PIGG):c.1773A>C (p.Gln591His)
NM_001127178.3(PIGG):c.178C>G (p.Leu60Val)
NM_001127178.3(PIGG):c.17G>A (p.Gly6Glu)
NM_001127178.3(PIGG):c.184C>T (p.Pro62Ser) rs528446220
NM_001127178.3(PIGG):c.1858G>C (p.Ala620Pro) rs1726727453
NM_001127178.3(PIGG):c.1876C>T (p.Pro626Ser) rs1726732803
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.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.1996C>T (p.Arg666Trp)
NM_001127178.3(PIGG):c.1997G>T (p.Arg666Leu) rs1162996177
NM_001127178.3(PIGG):c.2019G>C (p.Gln673His) rs1205397074
NM_001127178.3(PIGG):c.2054G>A (p.Gly685Asp)
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.2093C>G (p.Ser698Cys)
NM_001127178.3(PIGG):c.2093C>T (p.Ser698Phe)
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.2131C>G (p.Leu711Val) rs1727844860
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.214C>G (p.Leu72Val) rs113634981
NM_001127178.3(PIGG):c.2150C>T (p.Ser717Phe)
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.2205GGC[1] (p.Ala737del)
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.2248A>C (p.Lys750Gln) rs1560356446
NM_001127178.3(PIGG):c.2248_2250del (p.Lys750del) rs2108996176
NM_001127178.3(PIGG):c.2262-3T>C
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.228G>T (p.Leu76Phe) rs782727523
NM_001127178.3(PIGG):c.2305A>T (p.Ile769Phe)
NM_001127178.3(PIGG):c.2315C>T (p.Thr772Met)
NM_001127178.3(PIGG):c.2328C>G (p.Asp776Glu)
NM_001127178.3(PIGG):c.2332C>T (p.Leu778Phe) rs2109014450
NM_001127178.3(PIGG):c.2348_2350dup (p.Ile783_Ala784insVal)
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.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.2423T>C (p.Leu808Pro)
NM_001127178.3(PIGG):c.2432C>T (p.Pro811Leu)
NM_001127178.3(PIGG):c.244T>C (p.Phe82Leu) rs551114887
NM_001127178.3(PIGG):c.2452G>C (p.Ala818Pro)
NM_001127178.3(PIGG):c.2493C>G (p.Ile831Met)
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+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.2572-3C>T
NM_001127178.3(PIGG):c.2573G>A (p.Gly858Asp)
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.2613C>T (p.Gly871=)
NM_001127178.3(PIGG):c.2616C>A (p.Phe872Leu)
NM_001127178.3(PIGG):c.2627A>T (p.Asp876Val) rs2109033908
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.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.2672C>A (p.Thr891Lys) rs761022630
NM_001127178.3(PIGG):c.2677G>A (p.Ala893Thr)
NM_001127178.3(PIGG):c.2710C>T (p.His904Tyr) rs1401973942
NM_001127178.3(PIGG):c.2723C>G (p.Ser908Ter) rs1729731097
NM_001127178.3(PIGG):c.2736-2A>G
NM_001127178.3(PIGG):c.2750G>C (p.Ser917Thr)
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.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.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.2831A>G (p.His944Arg)
NM_001127178.3(PIGG):c.2834T>C (p.Leu945Ser) rs1731498967
NM_001127178.3(PIGG):c.2843G>A (p.Trp948Ter)
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.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.341T>G (p.Val114Gly)
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.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.405G>T (p.Arg135Ser) rs782043045
NM_001127178.3(PIGG):c.408C>G (p.Asn136Lys)
NM_001127178.3(PIGG):c.413A>G (p.Asn138Ser)
NM_001127178.3(PIGG):c.460G>A (p.Ala154Thr) rs1719479054
NM_001127178.3(PIGG):c.47A>C (p.Glu16Ala)
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.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+5G>A rs2108789615
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.641A>G (p.His214Arg)
NM_001127178.3(PIGG):c.653T>C (p.Leu218Pro)
NM_001127178.3(PIGG):c.670A>G (p.Ile224Val)
NM_001127178.3(PIGG):c.680C>T (p.Pro227Leu)
NM_001127178.3(PIGG):c.683A>G (p.Asn228Ser) rs1553880271
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.748C>A (p.Leu250Met) rs2108802312
NM_001127178.3(PIGG):c.751C>G (p.Gln251Glu) rs782797418
NM_001127178.3(PIGG):c.779C>A (p.Pro260His)
NM_001127178.3(PIGG):c.786G>T (p.Leu262Phe) rs2108814975
NM_001127178.3(PIGG):c.797G>A (p.Cys266Tyr)
NM_001127178.3(PIGG):c.813G>A (p.Met271Ile) rs2108815187
NM_001127178.3(PIGG):c.845C>G (p.Thr282Ser) rs781867858
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.902-5T>G
NM_001127178.3(PIGG):c.907A>G (p.Ile303Val)
NM_001127178.3(PIGG):c.908T>A (p.Ile303Asn) rs1459250449
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.974C>G (p.Pro325Arg) rs746660978
NM_001127178.3(PIGG):c.989G>A (p.Ser330Asn) rs1189967347
NM_001127178.3(PIGG):c.989G>T (p.Ser330Ile)
NM_001166114.2(PNPLA6):c.1010T>A (p.Ile337Asn)
NM_001166114.2(PNPLA6):c.1016C>A (p.Pro339His)
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.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.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.1169-12T>G
NM_001166114.2(PNPLA6):c.1199C>A (p.Thr400Asn)
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.1253-3C>A
NM_001166114.2(PNPLA6):c.1268C>G (p.Pro423Arg) rs1245401993
NM_001166114.2(PNPLA6):c.1282G>A (p.Asp428Asn)
NM_001166114.2(PNPLA6):c.1292A>G (p.Tyr431Cys) rs373050796
NM_001166114.2(PNPLA6):c.1298G>A (p.Arg433His)
NM_001166114.2(PNPLA6):c.1312G>T (p.Val438Leu) rs752915572
NM_001166114.2(PNPLA6):c.1331C>A (p.Ala444Asp) rs1599277847
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.1366C>T (p.Pro456Ser)
NM_001166114.2(PNPLA6):c.1369A>G (p.Thr457Ala) rs2023214810
NM_001166114.2(PNPLA6):c.1379_1381del (p.Pro460del) rs762850838
NM_001166114.2(PNPLA6):c.1427A>G (p.Glu476Gly) rs1242705662
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.1438G>C (p.Gly480Arg) rs2146061174
NM_001166114.2(PNPLA6):c.1448C>T (p.Pro483Leu) rs937353646
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.1522C>T (p.Arg508Trp) rs777484615
NM_001166114.2(PNPLA6):c.1531-10_1537dup rs770365418
NM_001166114.2(PNPLA6):c.1531-3C>T rs2023226974
NM_001166114.2(PNPLA6):c.1544T>C (p.Leu515Pro)
NM_001166114.2(PNPLA6):c.154G>A (p.Val52Met)
NM_001166114.2(PNPLA6):c.1585A>G (p.Ile529Val) rs756934322
NM_001166114.2(PNPLA6):c.1608+17_1608+18inv
NM_001166114.2(PNPLA6):c.1608+3G>T
NM_001166114.2(PNPLA6):c.1608+5G>A
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.1681G>A (p.Val561Met)
NM_001166114.2(PNPLA6):c.1693G>A (p.Val565Ile) rs777182371
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.1705G>A (p.Gly569Arg)
NM_001166114.2(PNPLA6):c.1746_1748del (p.Leu583del)
NM_001166114.2(PNPLA6):c.1815-16A>C
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.1927G>C (p.Ala643Pro)
NM_001166114.2(PNPLA6):c.193G>A (p.Val65Met)
NM_001166114.2(PNPLA6):c.1963G>A (p.Asp655Asn) rs2023598411
NM_001166114.2(PNPLA6):c.1969A>T (p.Thr657Ser)
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.2015G>C (p.Gly672Ala)
NM_001166114.2(PNPLA6):c.202C>T (p.Leu68Phe) rs2022847854
NM_001166114.2(PNPLA6):c.2086C>T (p.Arg696Trp) rs1252365178
NM_001166114.2(PNPLA6):c.2098G>C (p.Ala700Pro) rs931291219
NM_001166114.2(PNPLA6):c.2122G>C (p.Asp708His) rs2023621348
NM_001166114.2(PNPLA6):c.2126C>G (p.Thr709Arg)
NM_001166114.2(PNPLA6):c.2149G>A (p.Gly717Ser) rs2146090036
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.2183A>G (p.Gln728Arg)
NM_001166114.2(PNPLA6):c.2184+3_2184+4delinsTT
NM_001166114.2(PNPLA6):c.2184+4C>A
NM_001166114.2(PNPLA6):c.2184G>C (p.Gln728His) rs2023623991
NM_001166114.2(PNPLA6):c.219G>C (p.Arg73Ser)
NM_001166114.2(PNPLA6):c.2204A>G (p.His735Arg) rs2146091516
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.2260+6A>C
NM_001166114.2(PNPLA6):c.2260G>C (p.Gly754Arg)
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.2289G>A (p.Ser763=)
NM_001166114.2(PNPLA6):c.2293C>G (p.Leu765Val) rs1374962353
NM_001166114.2(PNPLA6):c.233-11C>G
NM_001166114.2(PNPLA6):c.233-16C>G
NM_001166114.2(PNPLA6):c.2331C>G (p.Ile777Met)
NM_001166114.2(PNPLA6):c.2356A>G (p.Met786Val) rs2146099595
NM_001166114.2(PNPLA6):c.2386G>T (p.Ala796Ser) rs144206674
NM_001166114.2(PNPLA6):c.2401+13del
NM_001166114.2(PNPLA6):c.2411T>C (p.Leu804Pro) rs148308965
NM_001166114.2(PNPLA6):c.2422A>G (p.Ser808Gly) rs1402183916
NM_001166114.2(PNPLA6):c.2455G>A (p.Ala819Thr) rs2146100619
NM_001166114.2(PNPLA6):c.2456C>T (p.Ala819Val)
NM_001166114.2(PNPLA6):c.2518C>T (p.Arg840Cys) rs1599303242
NM_001166114.2(PNPLA6):c.2519G>C (p.Arg840Pro)
NM_001166114.2(PNPLA6):c.2533C>G (p.Gln845Glu) rs774188638
NM_001166114.2(PNPLA6):c.2541C>G (p.Asp847Glu)
NM_001166114.2(PNPLA6):c.2555C>T (p.Pro852Leu)
NM_001166114.2(PNPLA6):c.2566C>T (p.Arg856Cys) rs755352257
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.2634G>A (p.Gln878=)
NM_001166114.2(PNPLA6):c.2657C>T (p.Thr886Met)
NM_001166114.2(PNPLA6):c.2680C>G (p.Leu894Val) rs2146102825
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.2746A>G (p.Ser916Gly) rs2023809980
NM_001166114.2(PNPLA6):c.2774G>A (p.Arg925His)
NM_001166114.2(PNPLA6):c.2782C>T (p.Arg928Cys) rs765924753
NM_001166114.2(PNPLA6):c.2794T>C (p.Ser932Pro)
NM_001166114.2(PNPLA6):c.2797C>T (p.Arg933Cys)
NM_001166114.2(PNPLA6):c.2809_2810delinsAA (p.Ala937Asn)
NM_001166114.2(PNPLA6):c.2833A>G (p.Lys945Glu) rs958813626
NM_001166114.2(PNPLA6):c.2843C>T (p.Ser948Phe)
NM_001166114.2(PNPLA6):c.2855A>G (p.Asp952Gly) rs2023826142
NM_001166114.2(PNPLA6):c.2886G>T (p.Arg962Ser)
NM_001166114.2(PNPLA6):c.2908G>A (p.Ala970Thr) rs2023828884
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.2929G>A (p.Gly977Arg) rs1161640444
NM_001166114.2(PNPLA6):c.2930G>C (p.Gly977Ala)
NM_001166114.2(PNPLA6):c.2934_2936+13dup
NM_001166114.2(PNPLA6):c.2936+4A>G
NM_001166114.2(PNPLA6):c.2936+4A>T
NM_001166114.2(PNPLA6):c.2937-3C>T
NM_001166114.2(PNPLA6):c.2937-5G>A rs776211274
NM_001166114.2(PNPLA6):c.2953G>C (p.Gly985Arg)
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.3077C>T (p.Ala1026Val)
NM_001166114.2(PNPLA6):c.3093+19G>T
NM_001166114.2(PNPLA6):c.3093+6T>C rs1487510973
NM_001166114.2(PNPLA6):c.3112G>A (p.Glu1038Lys)
NM_001166114.2(PNPLA6):c.3131C>T (p.Thr1044Met)
NM_001166114.2(PNPLA6):c.3152T>A (p.Phe1051Tyr) rs755407437
NM_001166114.2(PNPLA6):c.3281-3C>T rs2023917516
NM_001166114.2(PNPLA6):c.3281G>A (p.Gly1094Asp)
NM_001166114.2(PNPLA6):c.3301C>T (p.Arg1101Cys) rs2146110637
NM_001166114.2(PNPLA6):c.3310A>G (p.Met1104Val) rs1176866323
NM_001166114.2(PNPLA6):c.331TCC[1] (p.Ser112del)
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.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.3390T>G (p.Asn1130Lys)
NM_001166114.2(PNPLA6):c.3394C>G (p.Pro1132Ala)
NM_001166114.2(PNPLA6):c.3398-7C>A
NM_001166114.2(PNPLA6):c.3398C>T (p.Ala1133Val) rs1361220718
NM_001166114.2(PNPLA6):c.3406G>A (p.Ala1136Thr) rs765257753
NM_001166114.2(PNPLA6):c.3417G>A (p.Met1139Ile)
NM_001166114.2(PNPLA6):c.3436G>A (p.Ala1146Thr)
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.3473G>A (p.Ser1158Asn)
NM_001166114.2(PNPLA6):c.347C>T (p.Thr116Ile) rs769226316
NM_001166114.2(PNPLA6):c.3484G>T (p.Asp1162Tyr) rs2023998335
NM_001166114.2(PNPLA6):c.3489C>G (p.Ser1163Arg)
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.3587T>C (p.Val1196Ala) rs2146116726
NM_001166114.2(PNPLA6):c.3598C>T (p.Arg1200Trp) rs754590075
NM_001166114.2(PNPLA6):c.3609G>T (p.Glu1203Asp)
NM_001166114.2(PNPLA6):c.3626C>T (p.Ser1209Phe)
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.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.3712C>A (p.Gln1238Lys) rs143072391
NM_001166114.2(PNPLA6):c.3723G>C (p.Lys1241Asn) rs1347589242
NM_001166114.2(PNPLA6):c.3725C>T (p.Ala1242Val)
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.3823G>A (p.Ala1275Thr) rs139102273
NM_001166114.2(PNPLA6):c.3876G>C (p.Glu1292Asp)
NM_001166114.2(PNPLA6):c.3881C>T (p.Pro1294Leu)
NM_001166114.2(PNPLA6):c.3883A>G (p.Thr1295Ala) rs2146122983
NM_001166114.2(PNPLA6):c.3884C>G (p.Thr1295Arg)
NM_001166114.2(PNPLA6):c.3910G>A (p.Asp1304Asn)
NM_001166114.2(PNPLA6):c.3917A>G (p.Glu1306Gly)
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.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.3998C>A (p.Ala1333Glu) rs1385761016
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.4024-1G>A
NM_001166114.2(PNPLA6):c.4028A>T (p.Glu1343Val) rs2024099174
NM_001166114.2(PNPLA6):c.4049A>G (p.Gln1350Arg) rs2146124636
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.4078G>T (p.Gly1360Cys)
NM_001166114.2(PNPLA6):c.4095del (p.Ter1366GluextTer?) rs2024103130
NM_001166114.2(PNPLA6):c.414-4_414-2del rs771196056
NM_001166114.2(PNPLA6):c.421C>T (p.Arg141Cys) rs764125789
NM_001166114.2(PNPLA6):c.469G>A (p.Ala157Thr)
NM_001166114.2(PNPLA6):c.469G>T (p.Ala157Ser) rs767940871
NM_001166114.2(PNPLA6):c.493G>A (p.Glu165Lys) rs1370160653
NM_001166114.2(PNPLA6):c.555-3C>T rs764501990
NM_001166114.2(PNPLA6):c.555G>T (p.Arg185=) rs1329932060
NM_001166114.2(PNPLA6):c.598C>T (p.Arg200Cys) rs2146050796
NM_001166114.2(PNPLA6):c.656C>G (p.Pro219Arg) rs1246188701
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.697C>T (p.Leu233Phe)
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.714+8G>A
NM_001166114.2(PNPLA6):c.721A>C (p.Lys241Gln)
NM_001166114.2(PNPLA6):c.782T>G (p.Leu261Arg) rs2023091581
NM_001166114.2(PNPLA6):c.797G>A (p.Gly266Asp) rs2146053653
NM_001166114.2(PNPLA6):c.805C>T (p.His269Tyr)
NM_001166114.2(PNPLA6):c.806A>C (p.His269Pro)
NM_001166114.2(PNPLA6):c.829C>T (p.Arg277Trp)
NM_001166114.2(PNPLA6):c.833C>G (p.Ala278Gly) rs1433313104
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.860T>A (p.Leu287Gln)
NM_001166114.2(PNPLA6):c.878C>T (p.Ser293Phe) rs1441967962
NM_001166114.2(PNPLA6):c.890C>A (p.Thr297Asn) rs777868937
NM_001166114.2(PNPLA6):c.899C>T (p.Pro300Leu)
NM_001166114.2(PNPLA6):c.919G>C (p.Val307Leu)
NM_001166114.2(PNPLA6):c.925-12C>A
NM_001166114.2(PNPLA6):c.938G>A (p.Arg313Gln) rs2023131773
NM_001166114.2(PNPLA6):c.945G>T (p.Gln315His)
NM_001166114.2(PNPLA6):c.978G>A (p.Leu326=)
NM_001346754.2(PIGW):c.1003_1004del (p.Asp335fs)
NM_001346754.2(PIGW):c.1016_1018del (p.Val339del)
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.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.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.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.1271C>G (p.Ser424Ter) rs2074172383
NM_001346754.2(PIGW):c.1277C>T (p.Ser426Phe) rs770369186
NM_001346754.2(PIGW):c.1286C>T (p.Pro429Leu)
NM_001346754.2(PIGW):c.1307C>A (p.Pro436His)
NM_001346754.2(PIGW):c.1334A>C (p.Asn445Thr) rs1407125462
NM_001346754.2(PIGW):c.1349T>C (p.Ile450Thr)
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.1450A>G (p.Met484Val) rs1290721958
NM_001346754.2(PIGW):c.1450_1451del (p.Met484fs) rs768711087
NM_001346754.2(PIGW):c.1501_1502del (p.Val501fs)
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.234T>A (p.Phe78Leu)
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.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.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.359G>A (p.Ser120Asn) rs1433821334
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.410G>A (p.Ser137Asn) rs2142615931
NM_001346754.2(PIGW):c.413C>T (p.Ala138Val)
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.501G>C (p.Met167Ile)
NM_001346754.2(PIGW):c.530G>A (p.Gly177Glu) rs2142616545
NM_001346754.2(PIGW):c.547C>G (p.Leu183Val)
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.5C>A (p.Ser2Tyr)
NM_001346754.2(PIGW):c.606_608del (p.Leu203del) rs2074161776
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.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.704A>G (p.His235Arg) rs1157493972
NM_001346754.2(PIGW):c.708del (p.His235_Trp236insTer) rs764773930
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.775_776del (p.Leu258_Asn259insTer)
NM_001346754.2(PIGW):c.776A>G (p.Asn259Ser)
NM_001346754.2(PIGW):c.806C>G (p.Thr269Ser) rs2142618358
NM_001346754.2(PIGW):c.826C>T (p.Leu276Phe) rs2074165401
NM_001346754.2(PIGW):c.833T>G (p.Phe278Cys)
NM_001346754.2(PIGW):c.863G>T (p.Gly288Val) rs1745821520
NM_001346754.2(PIGW):c.863del (p.Gly288fs) rs753213838
NM_001346754.2(PIGW):c.871G>T (p.Gly291Cys) rs2142618795
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.907C>T (p.Arg303Cys)
NM_001346754.2(PIGW):c.915AAT[1] (p.Ile307del) rs2142619101
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.979C>T (p.His327Tyr)
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.1031G>A (p.Gly344Asp) rs1409887214
NM_001360.3(DHCR7):c.106G>A (p.Asp36Asn) rs2120355049
NM_001360.3(DHCR7):c.109T>G (p.Trp37Gly)
NM_001360.3(DHCR7):c.1156G>C (p.Asp386His)
NM_001360.3(DHCR7):c.1172A>C (p.His391Pro)
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.1270G>T (p.Gly424Cys)
NM_001360.3(DHCR7):c.1321A>G (p.Thr441Ala) rs749728888
NM_001360.3(DHCR7):c.1334_1336dup (p.Leu445dup) rs766416330
NM_001360.3(DHCR7):c.1359C>T (p.Ser453=)
NM_001360.3(DHCR7):c.1364A>T (p.Tyr455Phe) rs1949264089
NM_001360.3(DHCR7):c.1373A>G (p.Asp458Gly)
NM_001360.3(DHCR7):c.1379A>G (p.Glu460Gly)
NM_001360.3(DHCR7):c.1393G>T (p.Ala465Ser)
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.207_208delinsCC (p.Gly70Arg) rs2120355002
NM_001360.3(DHCR7):c.220G>A (p.Asp74Asn)
NM_001360.3(DHCR7):c.230C>T (p.Thr77Ile)
NM_001360.3(DHCR7):c.299A>G (p.Tyr100Cys)
NM_001360.3(DHCR7):c.335C>T (p.Thr112Met)
NM_001360.3(DHCR7):c.353G>A (p.Cys118Tyr)
NM_001360.3(DHCR7):c.356A>G (p.His119Arg) rs28938174
NM_001360.3(DHCR7):c.37A>G (p.Lys13Glu)
NM_001360.3(DHCR7):c.412+3A>G rs786200926
NM_001360.3(DHCR7):c.415G>C (p.Val139Leu)
NM_001360.3(DHCR7):c.438_439inv (p.Gly147Ser)
NM_001360.3(DHCR7):c.44T>C (p.Leu15Pro) rs1949390350
NM_001360.3(DHCR7):c.475T>C (p.Phe159Leu)
NM_001360.3(DHCR7):c.488A>G (p.His163Arg)
NM_001360.3(DHCR7):c.496T>G (p.Ser166Ala)
NM_001360.3(DHCR7):c.550G>A (p.Ala184Thr)
NM_001360.3(DHCR7):c.578C>G (p.Thr193Ser)
NM_001360.3(DHCR7):c.626+3A>G
NM_001360.3(DHCR7):c.646T>G (p.Phe216Val)
NM_001360.3(DHCR7):c.654C>A (p.Asn218Lys) rs1949321790
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.687C>G (p.Ile229Met) rs267603172
NM_001360.3(DHCR7):c.694T>C (p.Trp232Arg)
NM_001360.3(DHCR7):c.766G>T (p.Ala256Ser) rs772639348
NM_001360.3(DHCR7):c.779G>A (p.Arg260Gln)
NM_001360.3(DHCR7):c.791G>A (p.Ser264Asn)
NM_001360.3(DHCR7):c.835A>G (p.Ile279Val)
NM_001360.3(DHCR7):c.851TCT[1] (p.Phe285del)
NM_001360.3(DHCR7):c.858G>T (p.Trp286Cys)
NM_001360.3(DHCR7):c.909G>T (p.Gly303=) rs2135941816
NM_001360.3(DHCR7):c.928G>A (p.Asp310Asn)
NM_001360.3(DHCR7):c.939G>C (p.Trp313Cys) rs1555145862
NM_002641.4(PIGA):c.1022C>T (p.Pro341Leu) rs2147717491
NM_002641.4(PIGA):c.1027A>G (p.Asn343Asp)
NM_002641.4(PIGA):c.1048C>T (p.Pro350Ser) rs372966902
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.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.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.1188+3A>G
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.1225A>G (p.Met409Val) rs1921823118
NM_002641.4(PIGA):c.1315C>G (p.Leu439Val) rs2147714748
NM_002641.4(PIGA):c.1319T>C (p.Ile440Thr)
NM_002641.4(PIGA):c.1348A>G (p.Ile450Val)
NM_002641.4(PIGA):c.1363A>G (p.Ile455Val)
NM_002641.4(PIGA):c.1369G>A (p.Ala457Thr) rs1440750558
NM_002641.4(PIGA):c.1399_1401del (p.Asn467del)
NM_002641.4(PIGA):c.1433A>G (p.Asn478Ser)
NM_002641.4(PIGA):c.154C>T (p.His52Tyr)
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.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.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.296A>G (p.Asn99Ser)
NM_002641.4(PIGA):c.29G>A (p.Gly10Asp) rs1602212448
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.332C>T (p.Pro111Leu) rs2147723769
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.368C>T (p.Thr123Met) rs1555945480
NM_002641.4(PIGA):c.371T>A (p.Ile124Lys)
NM_002641.4(PIGA):c.392T>A (p.Phe131Tyr) rs1922155142
NM_002641.4(PIGA):c.407A>G (p.His136Arg) rs1602212104
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.443A>G (p.Gln148Arg)
NM_002641.4(PIGA):c.446C>T (p.Thr149Ile)
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.586G>A (p.Ala196Thr)
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.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.707A>T (p.Tyr236Phe)
NM_002641.4(PIGA):c.721G>A (p.Asp241Asn) rs2147718542
NM_002641.4(PIGA):c.73C>A (p.Leu25Ile)
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.790G>C (p.Glu264Gln) rs755799077
NM_002641.4(PIGA):c.853C>T (p.Arg285Cys) rs1921932909
NM_002641.4(PIGA):c.85A>G (p.Arg29Gly)
NM_002641.4(PIGA):c.908A>G (p.His303Arg)
NM_002641.4(PIGA):c.91C>G (p.Arg31Gly)
NM_002641.4(PIGA):c.968G>A (p.Ser323Asn)
NM_002641.4(PIGA):c.98A>G (p.His33Arg) rs797044924
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.1165C>T (p.Arg389Cys)
NM_022436.3(ABCG5):c.1180C>A (p.Leu394Met)
NM_022436.3(ABCG5):c.1188G>C (p.Met396Ile)
NM_022436.3(ABCG5):c.1189G>T (p.Gly397Cys)
NM_022436.3(ABCG5):c.1205T>C (p.Phe402Ser)
NM_022436.3(ABCG5):c.1209C>T (p.Phe403=)
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.1271A>C (p.Tyr424Ser)
NM_022436.3(ABCG5):c.1327C>T (p.Pro443Ser)
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.139G>A (p.Val47Ile) rs72542426
NM_022436.3(ABCG5):c.1452T>G (p.Ser484Arg)
NM_022436.3(ABCG5):c.1460A>G (p.Tyr487Cys)
NM_022436.3(ABCG5):c.1514C>A (p.Ala505Asp)
NM_022436.3(ABCG5):c.1537G>C (p.Gly513Arg) rs1418170362
NM_022436.3(ABCG5):c.158C>T (p.Pro53Leu)
NM_022436.3(ABCG5):c.1593C>A (p.Asn531Lys)
NM_022436.3(ABCG5):c.1621G>T (p.Gly541Trp) rs142109022
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.1913G>A (p.Gly638Glu)
NM_022436.3(ABCG5):c.1A>G (p.Met1Val)
NM_022436.3(ABCG5):c.242T>C (p.Ile81Thr)
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.343G>A (p.Val115Met)
NM_022436.3(ABCG5):c.402+3G>T
NM_022436.3(ABCG5):c.421A>C (p.Ser141Arg)
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.537T>A (p.His179Gln)
NM_022436.3(ABCG5):c.539T>A (p.Val180Glu)
NM_022436.3(ABCG5):c.595C>T (p.Arg199Cys) rs376129056
NM_022436.3(ABCG5):c.598C>T (p.Arg200Trp)
NM_022436.3(ABCG5):c.634+6T>G rs1397305308
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.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.723G>T (p.Arg241Ser)
NM_022436.3(ABCG5):c.731T>C (p.Ile244Thr)
NM_022436.3(ABCG5):c.736G>A (p.Val246Ile)
NM_022436.3(ABCG5):c.757C>T (p.Arg253Cys)
NM_022436.3(ABCG5):c.761C>T (p.Ser254Phe)
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.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+3_904+6del
NM_022436.3(ABCG5):c.905-3T>C
NM_022436.3(ABCG5):c.914C>T (p.Thr305Met)
NM_022436.3(ABCG5):c.922G>C (p.Asp308His) rs767648807
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.988A>G (p.Lys330Glu)
NM_022436.3(ABCG5):c.98C>T (p.Pro33Leu)
NM_032634.4(PIGO):c.1028T>C (p.Val343Ala) rs2131078846
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.1094C>T (p.Ser365Leu) rs1262476458
NM_032634.4(PIGO):c.1120G>C (p.Val374Leu) rs1587168605
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.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.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.1270G>A (p.Val424Met)
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.1334G>A (p.Arg445His)
NM_032634.4(PIGO):c.1339T>C (p.Ser447Pro)
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.1361G>T (p.Gly454Val) rs751477063
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.1433C>T (p.Pro478Leu) rs1829474467
NM_032634.4(PIGO):c.1442C>G (p.Pro481Arg) rs1563997847
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.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.154T>C (p.Trp52Arg) rs1829626477
NM_032634.4(PIGO):c.1574T>A (p.Phe525Tyr) rs935550232
NM_032634.4(PIGO):c.1591G>A (p.Ala531Thr) rs1416430595
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.1703C>T (p.Ala568Val)
NM_032634.4(PIGO):c.1707G>C (p.Glu569Asp) rs752287920
NM_032634.4(PIGO):c.1730T>C (p.Leu577Ser) rs1396494796
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.1789C>A (p.Pro597Thr) rs1829451050
NM_032634.4(PIGO):c.1801A>G (p.Thr601Ala) rs2131075982
NM_032634.4(PIGO):c.1817G>A (p.Gly606Asp)
NM_032634.4(PIGO):c.1820C>A (p.Thr607Asn) rs1829449172
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.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.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.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.1936C>T (p.Pro646Ser) rs1829443313
NM_032634.4(PIGO):c.193T>A (p.Ser65Thr) rs2131084267
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.1960C>G (p.Leu654Val) rs766400679
NM_032634.4(PIGO):c.1966C>T (p.Pro656Ser)
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.2018G>C (p.Cys673Ser) rs1829439353
NM_032634.4(PIGO):c.2026G>A (p.Ala676Thr) rs1465665122
NM_032634.4(PIGO):c.2027C>T (p.Ala676Val)
NM_032634.4(PIGO):c.2030T>G (p.Leu677Arg) rs1587164392
NM_032634.4(PIGO):c.2048C>T (p.Ala683Val) rs1436127368
NM_032634.4(PIGO):c.204G>A (p.Ser68=)
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.2066G>C (p.Arg689Pro) rs771748735
NM_032634.4(PIGO):c.2068C>T (p.Arg690Cys)
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.2114G>C (p.Arg705Pro) rs761836966
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.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.2192G>A (p.Arg731His) rs946030670
NM_032634.4(PIGO):c.2192G>T (p.Arg731Leu)
NM_032634.4(PIGO):c.2197C>G (p.Arg733Gly) rs748093757
NM_032634.4(PIGO):c.221T>C (p.Leu74Pro) rs1829622098
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.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.226G>A (p.Asp76Asn) rs1829621859
NM_032634.4(PIGO):c.2273T>C (p.Leu758Pro) rs1332591691
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.2299G>T (p.Val767Leu) rs1237902622
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>T (p.Arg775Ser) rs367815008
NM_032634.4(PIGO):c.2326A>G (p.Thr776Ala) rs1829419277
NM_032634.4(PIGO):c.2335G>C (p.Val779Leu)
NM_032634.4(PIGO):c.2345C>T (p.Pro782Leu)
NM_032634.4(PIGO):c.2363C>A (p.Thr788Asn) rs1390807512
NM_032634.4(PIGO):c.2371G>A (p.Ala791Thr)
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.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.2447A>C (p.Lys816Thr)
NM_032634.4(PIGO):c.244T>G (p.Phe82Val)
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.2503G>A (p.Ala835Thr)
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.2555_2572del (p.Ala852_Leu857del) rs1829403799
NM_032634.4(PIGO):c.2560C>T (p.Arg854Cys)
NM_032634.4(PIGO):c.2564T>C (p.Ile855Thr)
NM_032634.4(PIGO):c.259C>T (p.His87Tyr) rs1014636057
NM_032634.4(PIGO):c.2607_2609del (p.Leu870del) rs1829402902
NM_032634.4(PIGO):c.2621C>A (p.Ala874Asp)
NM_032634.4(PIGO):c.2627G>A (p.Gly876Glu) rs1057524330
NM_032634.4(PIGO):c.2670G>T (p.Gln890His) rs2131072103
NM_032634.4(PIGO):c.2674G>A (p.Val892Ile)
NM_032634.4(PIGO):c.2693T>C (p.Met898Thr) rs1829374920
NM_032634.4(PIGO):c.2707T>G (p.Phe903Val) rs1009399563
NM_032634.4(PIGO):c.2708_2710del (p.Phe903del)
NM_032634.4(PIGO):c.2711_2713del (p.Tyr904del)
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.2779G>A (p.Gly927Ser) rs1444732315
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.2833G>T (p.Ala945Ser)
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.2855-17_2855-16dup
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.2890T>C (p.Cys964Arg) rs1829353889
NM_032634.4(PIGO):c.2895G>A (p.Glu965=)
NM_032634.4(PIGO):c.2912A>G (p.Lys971Arg) rs1829352416
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.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.2957C>A (p.Pro986His) rs1255026795
NM_032634.4(PIGO):c.2959G>A (p.Glu987Lys) rs550176742
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.299T>C (p.Phe100Ser)
NM_032634.4(PIGO):c.3002C>A (p.Ala1001Glu)
NM_032634.4(PIGO):c.3020C>G (p.Ala1007Gly)
NM_032634.4(PIGO):c.3038G>T (p.Gly1013Val) rs1829343312
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.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.3138del (p.Lys1047fs)
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.3178G>C (p.Val1060Leu)
NM_032634.4(PIGO):c.317C>T (p.Ser106Phe) rs1346782397
NM_032634.4(PIGO):c.3199G>C (p.Ala1067Pro)
NM_032634.4(PIGO):c.3212G>A (p.Arg1071Lys) rs1829302818
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.350A>G (p.His117Arg)
NM_032634.4(PIGO):c.361T>A (p.Tyr121Asn) rs2131083704
NM_032634.4(PIGO):c.370C>G (p.Gln124Glu)
NM_032634.4(PIGO):c.412C>T (p.Leu138Phe) rs1057518551
NM_032634.4(PIGO):c.418A>G (p.Thr140Ala) rs1564001736
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.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.512-3C>A rs2131081917
NM_032634.4(PIGO):c.512-5T>A
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.540T>A (p.Asp180Glu) rs776571289
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.583T>C (p.Phe195Leu) rs1421287635
NM_032634.4(PIGO):c.588C>G (p.Phe196Leu)
NM_032634.4(PIGO):c.613G>A (p.Asp205Asn)
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.63T>G (p.Ile21Met) rs776535706
NM_032634.4(PIGO):c.655+4A>T
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.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.779A>G (p.Gln260Arg)
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.899T>A (p.Leu300Gln)
NM_032634.4(PIGO):c.908C>G (p.Pro303Arg) rs1587170972
NM_032634.4(PIGO):c.929C>A (p.Thr310Asn) rs770257536
NM_032634.4(PIGO):c.939+4_939+5dup
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.962T>C (p.Val321Ala) rs1829514099
NM_032634.4(PIGO):c.974C>G (p.Pro325Arg) rs1364028691

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