ClinVar Miner

List of variants in gene WHRN studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 759
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HGVS dbSNP gnomAD frequency
NM_015404.4(WHRN):c.2256= (p.Gln752=) rs6478078 0.99456
NM_015404.4(WHRN):c.1091= (p.His364=) rs10817610 0.98173
NM_015404.4(WHRN):c.1699-128T>C rs2236388 0.87038
NM_015404.4(WHRN):c.1353T>C (p.Gly451=) rs4979387 0.76260
NM_015404.4(WHRN):c.1626+199T>C rs2181928 0.56084
NM_015404.4(WHRN):c.1838T>C (p.Met613Thr) rs942519 0.47944
NM_015404.4(WHRN):c.1416+151A>G rs4979385 0.44586
NM_015404.4(WHRN):c.2348T>C (p.Val783Ala) rs2274159 0.40624
NM_015404.4(WHRN):c.2418+142A>G rs10739410 0.40617
NM_015404.4(WHRN):c.963+206G>A rs1535970 0.36724
NM_015404.4(WHRN):c.-510G>A rs10759714 0.36192
NM_015404.4(WHRN):c.-391C>A rs4527950 0.35348
NM_015404.4(WHRN):c.-91C>T rs2297814 0.33038
NM_015404.4(WHRN):c.117G>A (p.Val39=) rs2297815 0.33019
NM_015404.4(WHRN):c.964-21A>G rs2274163 0.31128
NM_015404.4(WHRN):c.1627-12G>A rs2274160 0.23283
NM_015404.4(WHRN):c.2419-118G>A rs55833018 0.20991
NM_015404.4(WHRN):c.1417-224A>G rs2274161 0.20119
NM_015404.4(WHRN):c.1318G>A (p.Ala440Thr) rs4978584 0.19569
NM_015404.4(WHRN):c.1416+22A>T rs4979386 0.19539
NM_015404.4(WHRN):c.2237-190T>C rs766835 0.19491
NM_015404.4(WHRN):c.1698+292G>T rs10982201 0.19211
NM_015404.4(WHRN):c.2388C>A (p.Asn796Lys) rs2274158 0.19185
NM_015404.4(WHRN):c.2283C>T (p.Ser761=) rs34963246 0.12235
NM_015404.4(WHRN):c.1684C>G (p.Pro562Ala) rs12339210 0.09351
NM_015404.4(WHRN):c.1167-264G>A rs10122624 0.06418
NM_015404.4(WHRN):c.963+314T>A rs73656118 0.03998
NM_015404.4(WHRN):c.963+315G>C rs73656117 0.03996
NM_015404.2(WHRN):c.-695A>T rs56085454 0.03180
NM_015404.4(WHRN):c.1515G>A (p.Ala505=) rs34252199 0.03118
NM_015404.4(WHRN):c.-257C>G rs73555447 0.02919
NM_015404.4(WHRN):c.-204C>G rs145985595 0.02512
NM_015404.4(WHRN):c.1167-90G>A rs114621936 0.02033
NM_015404.4(WHRN):c.1091A>G (p.His364Arg) rs10817610 0.01827
NM_015404.4(WHRN):c.-295C>G rs7861589 0.01478
NM_015404.4(WHRN):c.1699-178G>A rs116320508 0.01438
NM_015404.4(WHRN):c.1203+20_1203+21dup rs147319712 0.01375
NM_015404.4(WHRN):c.963+280dup rs138194289 0.01122
NM_015404.4(WHRN):c.2541+134C>T rs41278663 0.01053
NM_015404.4(WHRN):c.1166+43A>T rs115632847 0.00813
NM_015404.4(WHRN):c.963+180A>G rs146916265 0.00713
NM_015404.4(WHRN):c.229A>T (p.Thr77Ser) rs56204273 0.00613
NM_015404.4(WHRN):c.667C>T (p.Arg223Cys) rs76593842 0.00578
NM_015404.4(WHRN):c.2046G>C (p.Arg682=) rs35258467 0.00555
NM_015404.4(WHRN):c.2439G>A (p.Thr813=) rs61743618 0.00545
NM_015404.4(WHRN):c.2256G>C (p.Gln752His) rs6478078 0.00544
NM_015404.4(WHRN):c.1166+191A>G rs150121300 0.00500
NM_015404.4(WHRN):c.764G>A (p.Gly255Asp) rs79509430 0.00475
NM_015404.4(WHRN):c.1166+18G>A rs149202009 0.00456
NM_015404.4(WHRN):c.1166+23A>G rs56050936 0.00444
NM_015404.4(WHRN):c.2586C>A (p.His862Gln) rs117592152 0.00424
NM_015404.4(WHRN):c.838-48A>C rs199902215 0.00376
NM_015404.4(WHRN):c.1454C>T (p.Pro485Leu) rs79572315 0.00364
NM_015404.4(WHRN):c.1365T>C (p.Ser455=) rs111033459 0.00294
NM_015404.4(WHRN):c.1627-5T>A rs187221008 0.00184
NM_015404.4(WHRN):c.1305C>T (p.Asn435=) rs150407952 0.00177
NM_015404.4(WHRN):c.-34C>T rs545201037 0.00165
NM_015404.4(WHRN):c.1048C>T (p.Arg350Trp) rs142990800 0.00147
NM_015404.4(WHRN):c.19G>C (p.Gly7Arg) rs572671060 0.00141
NM_015404.4(WHRN):c.1204-33G>A rs78371346 0.00130
NM_015404.4(WHRN):c.33C>G (p.Ser11Arg) rs45527543 0.00130
NM_015404.4(WHRN):c.668G>A (p.Arg223His) rs146273185 0.00122
NM_015404.4(WHRN):c.1352G>A (p.Gly451Asp) rs117352600 0.00120
NM_015404.4(WHRN):c.1870C>T (p.Pro624Ser) rs140759343 0.00105
NM_015404.4(WHRN):c.234G>A (p.Leu78=) rs148785227 0.00099
NM_015404.4(WHRN):c.75C>T (p.Gly25=) rs771128098 0.00099
NM_015404.4(WHRN):c.1149C>T (p.Thr383=) rs149558159 0.00098
NM_015404.4(WHRN):c.1204-17A>G rs200002920 0.00098
NM_015404.4(WHRN):c.1943C>A (p.Ser648Tyr) rs142653982 0.00098
NM_015404.4(WHRN):c.1992G>A (p.Pro664=) rs142568702 0.00084
NM_015404.4(WHRN):c.1135C>T (p.Arg379Trp) rs56059137 0.00083
NM_015404.4(WHRN):c.1533C>T (p.Pro511=) rs143271849 0.00079
NM_015404.4(WHRN):c.2438C>T (p.Thr813Met) rs143728180 0.00078
NM_015404.4(WHRN):c.2027C>G (p.Pro676Arg) rs139279977 0.00067
NM_015404.4(WHRN):c.2322C>T (p.Ser774=) rs55966714 0.00062
NM_015404.4(WHRN):c.1455G>A (p.Pro485=) rs141807746 0.00055
NM_015404.4(WHRN):c.1525C>G (p.Pro509Ala) rs199867371 0.00054
NM_015404.4(WHRN):c.1075G>A (p.Val359Ile) rs147500559 0.00053
NM_015404.4(WHRN):c.191C>A (p.Ala64Asp) rs146655362 0.00053
NM_015404.4(WHRN):c.2510G>A (p.Arg837His) rs55749855 0.00053
NM_015404.4(WHRN):c.1148C>A (p.Thr383Asn) rs147283064 0.00052
NM_015404.4(WHRN):c.837+190A>G rs116554365 0.00050
NM_015404.4(WHRN):c.2101G>C (p.Gly701Arg) rs111373159 0.00047
NM_015404.4(WHRN):c.995G>A (p.Arg332Gln) rs139193948 0.00045
NM_015404.4(WHRN):c.1161G>A (p.Ser387=) rs201105262 0.00039
NM_015404.4(WHRN):c.1678G>A (p.Ala560Thr) rs182072601 0.00039
NM_015404.4(WHRN):c.2417C>T (p.Pro806Leu) rs149897775 0.00036
NM_015404.4(WHRN):c.1029C>A (p.Val343=) rs151112714 0.00035
NM_015404.4(WHRN):c.1887G>A (p.Pro629=) rs143443833 0.00035
NM_015404.4(WHRN):c.1568G>A (p.Ser523Asn) rs140954343 0.00026
NM_015404.4(WHRN):c.2237-10C>G rs200131193 0.00026
NM_015404.4(WHRN):c.2469G>A (p.Ala823=) rs144207463 0.00026
NM_015404.4(WHRN):c.1608C>G (p.Thr536=) rs139337135 0.00024
NM_015404.4(WHRN):c.1381A>C (p.Met461Leu) rs144878400 0.00022
NM_015404.4(WHRN):c.2183G>A (p.Arg728His) rs138767834 0.00021
NM_015404.4(WHRN):c.2354C>T (p.Thr785Ile) rs201555289 0.00019
NM_015404.4(WHRN):c.2461A>C (p.Lys821Gln) rs147387623 0.00016
NM_015404.4(WHRN):c.2060C>T (p.Pro687Leu) rs534523640 0.00014
NM_015404.4(WHRN):c.1620G>T (p.Ser540=) rs142855585 0.00013
NM_015404.4(WHRN):c.1893G>A (p.Ala631=) rs147952299 0.00013
NM_015404.4(WHRN):c.900C>T (p.Tyr300=) rs140268888 0.00012
NM_015404.4(WHRN):c.1017C>T (p.His339=) rs375732074 0.00011
NM_015404.4(WHRN):c.1049G>A (p.Arg350Gln) rs529362314 0.00011
NM_015404.4(WHRN):c.2061G>A (p.Pro687=) rs142268865 0.00011
NM_015404.4(WHRN):c.2112G>T (p.Leu704=) rs535492772 0.00011
NM_015404.4(WHRN):c.879G>A (p.Thr293=) rs139337254 0.00011
NM_015404.4(WHRN):c.998G>A (p.Ser333Asn) rs200073414 0.00011
NM_015404.4(WHRN):c.1625G>A (p.Arg542Lys) rs200040563 0.00010
NM_015404.4(WHRN):c.1696G>C (p.Val566Leu) rs189654215 0.00010
NM_015404.4(WHRN):c.1999G>A (p.Ala667Thr) rs202161016 0.00010
NM_015404.4(WHRN):c.2384G>A (p.Arg795Gln) rs143763650 0.00010
NM_015404.4(WHRN):c.2390A>G (p.Glu797Gly) rs375820423 0.00010
NM_015404.4(WHRN):c.2571G>T (p.Gln857His) rs776712642 0.00010
NM_015404.4(WHRN):c.409G>C (p.Glu137Gln) rs41297175 0.00010
NM_015404.4(WHRN):c.1222C>A (p.Pro408Thr) rs368241259 0.00009
NM_015404.4(WHRN):c.1575G>A (p.Thr525=) rs147266255 0.00009
NM_015404.4(WHRN):c.1611C>T (p.Thr537=) rs201280818 0.00009
NM_015404.4(WHRN):c.1699-14G>C rs746633124 0.00009
NM_015404.4(WHRN):c.2690A>C (p.Asp897Ala) rs781583583 0.00009
NM_015404.4(WHRN):c.1493G>A (p.Arg498His) rs753082098 0.00008
NM_015404.4(WHRN):c.1681C>T (p.Leu561Phe) rs899962077 0.00008
NM_015404.4(WHRN):c.1713C>T (p.Ser571=) rs753605610 0.00008
NM_015404.4(WHRN):c.1938C>A (p.Pro646=) rs144952955 0.00008
NM_015404.4(WHRN):c.2323G>A (p.Ala775Thr) rs145782014 0.00008
NM_015404.4(WHRN):c.1348C>T (p.Arg450Cys) rs373094583 0.00007
NM_015404.4(WHRN):c.1349G>A (p.Arg450His) rs200377723 0.00007
NM_015404.4(WHRN):c.1716C>T (p.Thr572=) rs760471578 0.00007
NM_015404.4(WHRN):c.2093T>A (p.Val698Glu) rs201184915 0.00007
NM_015404.4(WHRN):c.1072G>A (p.Asp358Asn) rs369521178 0.00006
NM_015404.4(WHRN):c.1331A>G (p.Tyr444Cys) rs45530335 0.00006
NM_015404.4(WHRN):c.1597G>A (p.Gly533Ser) rs752659496 0.00006
NM_015404.4(WHRN):c.1795C>T (p.Pro599Ser) rs748473403 0.00006
NM_015404.4(WHRN):c.1808G>T (p.Gly603Val) rs368141295 0.00006
NM_015404.4(WHRN):c.1879C>T (p.Arg627Cys) rs373652923 0.00006
NM_015404.4(WHRN):c.1960G>A (p.Val654Ile) rs572609043 0.00006
NM_015404.4(WHRN):c.1965C>T (p.Ser655=) rs780418034 0.00006
NM_015404.4(WHRN):c.2250C>T (p.Leu750=) rs766286407 0.00006
NM_015404.4(WHRN):c.2307C>T (p.Gly769=) rs148971049 0.00006
NM_015404.4(WHRN):c.2499C>T (p.Gly833=) rs755304293 0.00006
NM_015404.4(WHRN):c.255G>A (p.Pro85=) rs372046806 0.00006
NM_015404.4(WHRN):c.2665A>G (p.Lys889Glu) rs200354989 0.00006
NM_015404.4(WHRN):c.695A>C (p.His232Pro) rs533374297 0.00006
NM_015404.4(WHRN):c.1228G>A (p.Gly410Ser) rs745818473 0.00005
NM_015404.4(WHRN):c.1677C>T (p.Asn559=) rs138127153 0.00005
NM_015404.4(WHRN):c.1886C>T (p.Pro629Leu) rs752516364 0.00005
NM_015404.4(WHRN):c.1892C>T (p.Ala631Val) rs141168514 0.00005
NM_015404.4(WHRN):c.1988G>A (p.Arg663Lys) rs145308682 0.00005
NM_015404.4(WHRN):c.2418G>A (p.Pro806=) rs373754936 0.00005
NM_015404.4(WHRN):c.2641G>A (p.Ala881Thr) rs200551948 0.00005
NM_015404.4(WHRN):c.716C>T (p.Pro239Leu) rs180882127 0.00005
NM_015404.4(WHRN):c.73G>T (p.Gly25Cys) rs774198237 0.00005
NM_015404.4(WHRN):c.1125C>T (p.Ile375=) rs565175361 0.00004
NM_015404.4(WHRN):c.1176C>T (p.Gly392=) rs200276167 0.00004
NM_015404.4(WHRN):c.1193G>A (p.Gly398Glu) rs201612708 0.00004
NM_015404.4(WHRN):c.1417-19C>G rs780306772 0.00004
NM_015404.4(WHRN):c.1417-8G>A rs202228471 0.00004
NM_015404.4(WHRN):c.1543G>A (p.Asp515Asn) rs778064776 0.00004
NM_015404.4(WHRN):c.1554C>T (p.Ser518=) rs752882310 0.00004
NM_015404.4(WHRN):c.1555A>G (p.Met519Val) rs768008029 0.00004
NM_015404.4(WHRN):c.156G>A (p.Glu52=) rs201025266 0.00004
NM_015404.4(WHRN):c.1626+8T>G rs547616329 0.00004
NM_015404.4(WHRN):c.1699-10C>T rs150534136 0.00004
NM_015404.4(WHRN):c.2073C>T (p.Ser691=) rs768690928 0.00004
NM_015404.4(WHRN):c.2085G>A (p.Glu695=) rs140043085 0.00004
NM_015404.4(WHRN):c.2193C>T (p.Ser731=) rs147358257 0.00004
NM_015404.4(WHRN):c.2203G>A (p.Val735Ile) rs373552185 0.00004
NM_015404.4(WHRN):c.2246C>T (p.Thr749Met) rs767100303 0.00004
NM_015404.4(WHRN):c.2474C>G (p.Thr825Ser) rs200422759 0.00004
NM_015404.4(WHRN):c.2485G>A (p.Ala829Thr) rs139597771 0.00004
NM_015404.4(WHRN):c.2540A>G (p.Gln847Arg) rs545326842 0.00004
NM_015404.4(WHRN):c.2686A>G (p.Ile896Val) rs756666810 0.00004
NM_015404.4(WHRN):c.350C>T (p.Pro117Leu) rs772689669 0.00004
NM_015404.4(WHRN):c.498C>T (p.Ile166=) rs370018667 0.00004
NM_015404.4(WHRN):c.606G>T (p.Ala202=) rs551412674 0.00004
NM_015404.4(WHRN):c.724C>T (p.Arg242Cys) rs372265292 0.00004
NM_015404.4(WHRN):c.743C>T (p.Ser248Leu) rs141863996 0.00004
NM_015404.4(WHRN):c.763G>A (p.Gly255Ser) rs375934001 0.00004
NM_015404.4(WHRN):c.793C>T (p.Arg265Trp) rs373856120 0.00004
NM_015404.4(WHRN):c.933A>C (p.Pro311=) rs569159249 0.00004
NM_015404.4(WHRN):c.958C>T (p.Leu320Phe) rs780855079 0.00004
NM_015404.4(WHRN):c.1020C>T (p.Asp340=) rs745837106 0.00003
NM_015404.4(WHRN):c.113A>G (p.Asn38Ser) rs781494777 0.00003
NM_015404.4(WHRN):c.1417-9C>T rs369486137 0.00003
NM_015404.4(WHRN):c.1473C>T (p.Phe491=) rs886044241 0.00003
NM_015404.4(WHRN):c.1596C>T (p.His532=) rs775240892 0.00003
NM_015404.4(WHRN):c.2044C>T (p.Arg682Trp) rs753228548 0.00003
NM_015404.4(WHRN):c.2163T>C (p.Phe721=) rs752026052 0.00003
NM_015404.4(WHRN):c.2182C>T (p.Arg728Cys) rs371321396 0.00003
NM_015404.4(WHRN):c.2188G>A (p.Asp730Asn) rs533697311 0.00003
NM_015404.4(WHRN):c.2237-8C>T rs539923677 0.00003
NM_015404.4(WHRN):c.2261C>T (p.Ser754Leu) rs768714315 0.00003
NM_015404.4(WHRN):c.2268C>T (p.Ser756=) rs137977468 0.00003
NM_015404.4(WHRN):c.2345C>T (p.Ser782Leu) rs372472927 0.00003
NM_015404.4(WHRN):c.2349G>A (p.Val783=) rs771368811 0.00003
NM_015404.4(WHRN):c.2412C>T (p.Asn804=) rs752996781 0.00003
NM_015404.4(WHRN):c.2652C>T (p.Ile884=) rs1474851442 0.00003
NM_015404.4(WHRN):c.2653G>A (p.Ala885Thr) rs143464875 0.00003
NM_015404.4(WHRN):c.35C>T (p.Ser12Leu) rs760261757 0.00003
NM_015404.4(WHRN):c.44C>T (p.Thr15Ile) rs727502957 0.00003
NM_015404.4(WHRN):c.533A>C (p.Glu178Ala) rs745376483 0.00003
NM_015404.4(WHRN):c.592C>T (p.Arg198Trp) rs377053825 0.00003
NM_015404.4(WHRN):c.762C>T (p.His254=) rs201171374 0.00003
NM_015404.4(WHRN):c.827A>T (p.Asp276Val) rs143202640 0.00003
NM_015404.4(WHRN):c.859G>A (p.Gly287Ser) rs539341462 0.00003
NM_015404.4(WHRN):c.878C>T (p.Thr293Met) rs373608204 0.00003
NM_015404.4(WHRN):c.990T>C (p.Asn330=) rs774665932 0.00003
NM_015404.4(WHRN):c.1136G>A (p.Arg379Gln) rs777759706 0.00002
NM_015404.4(WHRN):c.1166+7C>T rs1043061213 0.00002
NM_015404.4(WHRN):c.1227C>T (p.Ala409=) rs758129253 0.00002
NM_015404.4(WHRN):c.1360G>A (p.Val454Ile) rs370178817 0.00002
NM_015404.4(WHRN):c.1372G>A (p.Ala458Thr) rs769022650 0.00002
NM_015404.4(WHRN):c.139A>G (p.Thr47Ala) rs556585167 0.00002
NM_015404.4(WHRN):c.1486C>T (p.Leu496=) rs758197889 0.00002
NM_015404.4(WHRN):c.1514C>T (p.Ala505Val) rs774765831 0.00002
NM_015404.4(WHRN):c.1517G>A (p.Arg506Gln) rs371938756 0.00002
NM_015404.4(WHRN):c.1612G>A (p.Val538Ile) rs781298298 0.00002
NM_015404.4(WHRN):c.1630A>G (p.Thr544Ala) rs767294488 0.00002
NM_015404.4(WHRN):c.1712C>T (p.Ser571Phe) rs200908854 0.00002
NM_015404.4(WHRN):c.1757C>T (p.Pro586Leu) rs771542666 0.00002
NM_015404.4(WHRN):c.179A>G (p.His60Arg) rs773260450 0.00002
NM_015404.4(WHRN):c.1853G>A (p.Gly618Asp) rs200812302 0.00002
NM_015404.4(WHRN):c.1863_1865del (p.Phe621_Ser622delinsLeu) rs757702620 0.00002
NM_015404.4(WHRN):c.1959C>T (p.Ser653=) rs376355638 0.00002
NM_015404.4(WHRN):c.1991C>T (p.Pro664Leu) rs749497671 0.00002
NM_015404.4(WHRN):c.2001C>A (p.Ala667=) rs371767583 0.00002
NM_015404.4(WHRN):c.207C>T (p.Arg69=) rs1226146050 0.00002
NM_015404.4(WHRN):c.2202C>T (p.Asp734=) rs777975664 0.00002
NM_015404.4(WHRN):c.2234G>A (p.Arg745His) rs555619169 0.00002
NM_015404.4(WHRN):c.2240C>A (p.Ala747Asp) rs755883346 0.00002
NM_015404.4(WHRN):c.2259C>T (p.Leu753=) rs776869555 0.00002
NM_015404.4(WHRN):c.2299G>T (p.Asp767Tyr) rs200583397 0.00002
NM_015404.4(WHRN):c.2554G>A (p.Ala852Thr) rs762342970 0.00002
NM_015404.4(WHRN):c.2645G>A (p.Arg882His) rs760928525 0.00002
NM_015404.4(WHRN):c.2655C>T (p.Ala885=) rs775402871 0.00002
NM_015404.4(WHRN):c.314T>C (p.Leu105Pro) rs751083422 0.00002
NM_015404.4(WHRN):c.321C>A (p.Asp107Glu) rs766238813 0.00002
NM_015404.4(WHRN):c.324A>G (p.Gln108=) rs763014940 0.00002
NM_015404.4(WHRN):c.437C>T (p.Ala146Val) rs778841607 0.00002
NM_015404.4(WHRN):c.49T>C (p.Ser17Pro) rs918836104 0.00002
NM_015404.4(WHRN):c.508C>G (p.Leu170Val) rs748546471 0.00002
NM_015404.4(WHRN):c.549G>A (p.Arg183=) rs147477922 0.00002
NM_015404.4(WHRN):c.627G>A (p.Lys209=) rs143079837 0.00002
NM_015404.4(WHRN):c.838-15C>G rs769277233 0.00002
NM_015404.4(WHRN):c.862C>T (p.Arg288Trp) rs777415661 0.00002
NM_015404.4(WHRN):c.863G>A (p.Arg288Gln) rs377606858 0.00002
NM_015404.4(WHRN):c.99G>T (p.Arg33=) rs1239459878 0.00002
NM_015404.4(WHRN):c.*37C>G rs549195233 0.00001
NM_015404.4(WHRN):c.*51C>T rs529176890 0.00001
NM_015404.4(WHRN):c.1006A>G (p.Asn336Asp) rs1836861926 0.00001
NM_015404.4(WHRN):c.1074C>T (p.Asp358=) rs922352240 0.00001
NM_015404.4(WHRN):c.1097G>A (p.Arg366His) rs763238664 0.00001
NM_015404.4(WHRN):c.1111G>A (p.Glu371Lys) rs760297351 0.00001
NM_015404.4(WHRN):c.1139T>C (p.Ile380Thr) rs756328473 0.00001
NM_015404.4(WHRN):c.1154C>T (p.Ala385Val) rs766869083 0.00001
NM_015404.4(WHRN):c.1155G>A (p.Ala385=) rs758965209 0.00001
NM_015404.4(WHRN):c.1166G>A (p.Gly389Glu) rs759109990 0.00001
NM_015404.4(WHRN):c.1192G>A (p.Gly398Arg) rs1483589525 0.00001
NM_015404.4(WHRN):c.1239G>A (p.Val413=) rs1444785631 0.00001
NM_015404.4(WHRN):c.1266A>G (p.Thr422=) rs1246623266 0.00001
NM_015404.4(WHRN):c.1268G>A (p.Arg423Gln) rs35003670 0.00001
NM_015404.4(WHRN):c.1278G>A (p.Leu426=) rs774461811 0.00001
NM_015404.4(WHRN):c.1292G>A (p.Arg431Gln) rs770481636 0.00001
NM_015404.4(WHRN):c.1306G>A (p.Glu436Lys) rs757963300 0.00001
NM_015404.4(WHRN):c.1308G>A (p.Glu436=) rs745473400 0.00001
NM_015404.4(WHRN):c.1317C>T (p.His439=) rs756715564 0.00001
NM_015404.4(WHRN):c.1359C>T (p.Ser453=) rs148677152 0.00001
NM_015404.4(WHRN):c.1378G>A (p.Val460Ile) rs373389359 0.00001
NM_015404.4(WHRN):c.1385C>T (p.Ala462Val) rs778565930 0.00001
NM_015404.4(WHRN):c.140C>T (p.Thr47Ile) rs1282235356 0.00001
NM_015404.4(WHRN):c.1434G>A (p.Glu478=) rs753918358 0.00001
NM_015404.4(WHRN):c.1468C>T (p.Arg490Cys) rs769494605 0.00001
NM_015404.4(WHRN):c.1474G>A (p.Asp492Asn) rs375229693 0.00001
NM_015404.4(WHRN):c.1516C>T (p.Arg506Trp) rs1311654091 0.00001
NM_015404.4(WHRN):c.1534G>A (p.Gly512Arg) rs368452983 0.00001
NM_015404.4(WHRN):c.153C>G (p.Ser51Arg) rs753390670 0.00001
NM_015404.4(WHRN):c.1541G>A (p.Gly514Glu) rs1233678073 0.00001
NM_015404.4(WHRN):c.1547C>T (p.Thr516Ile) rs756090687 0.00001
NM_015404.4(WHRN):c.1578T>C (p.Gly526=) rs111033438 0.00001
NM_015404.4(WHRN):c.1591A>C (p.Ser531Arg) rs1217731688 0.00001
NM_015404.4(WHRN):c.1603T>C (p.Ser535Pro) rs1292972674 0.00001
NM_015404.4(WHRN):c.1626+16C>A rs1311465688 0.00001
NM_015404.4(WHRN):c.1632T>C (p.Thr544=) rs759107735 0.00001
NM_015404.4(WHRN):c.1676A>G (p.Asn559Ser) rs772432304 0.00001
NM_015404.4(WHRN):c.167A>G (p.Glu56Gly) rs767351109 0.00001
NM_015404.4(WHRN):c.1698+8C>T rs757877261 0.00001
NM_015404.4(WHRN):c.1750C>T (p.Arg584Cys) rs551155761 0.00001
NM_015404.4(WHRN):c.1751G>A (p.Arg584His) rs372230625 0.00001
NM_015404.4(WHRN):c.1776C>T (p.Asn592=) rs749765866 0.00001
NM_015404.4(WHRN):c.1784C>A (p.Pro595Gln) rs1287573798 0.00001
NM_015404.4(WHRN):c.1810A>G (p.Arg604Gly) rs373975842 0.00001
NM_015404.4(WHRN):c.1865C>T (p.Ser622Leu) rs745460020 0.00001
NM_015404.4(WHRN):c.1903C>T (p.Pro635Ser) rs1225086825 0.00001
NM_015404.4(WHRN):c.1909C>A (p.Pro637Thr) rs750597763 0.00001
NM_015404.4(WHRN):c.190G>T (p.Ala64Ser) rs1373938113 0.00001
NM_015404.4(WHRN):c.192T>C (p.Ala64=) rs1312082449 0.00001
NM_015404.4(WHRN):c.1969G>C (p.Ala657Pro) rs758733083 0.00001
NM_015404.4(WHRN):c.1998C>T (p.Asp666=) rs368299838 0.00001
NM_015404.4(WHRN):c.2031C>T (p.Ile677=) rs576364705 0.00001
NM_015404.4(WHRN):c.2032G>A (p.Gly678Ser) rs200037348 0.00001
NM_015404.4(WHRN):c.2054C>T (p.Ser685Leu) rs1370011915 0.00001
NM_015404.4(WHRN):c.2056C>A (p.Pro686Thr) rs201690920 0.00001
NM_015404.4(WHRN):c.2072G>A (p.Ser691Asn) rs1314831998 0.00001
NM_015404.4(WHRN):c.2115C>T (p.Pro705=) rs373760153 0.00001
NM_015404.4(WHRN):c.2118A>G (p.Pro706=) rs756217407 0.00001
NM_015404.4(WHRN):c.2189A>G (p.Asp730Gly) rs772190770 0.00001
NM_015404.4(WHRN):c.2207A>G (p.Asn736Ser) rs1418671868 0.00001
NM_015404.4(WHRN):c.2219C>T (p.Ala740Val) rs976736112 0.00001
NM_015404.4(WHRN):c.2231C>T (p.Thr744Met) rs751846994 0.00001
NM_015404.4(WHRN):c.2233C>T (p.Arg745Cys) rs760384450 0.00001
NM_015404.4(WHRN):c.2236+18A>T rs752298678 0.00001
NM_015404.4(WHRN):c.2237-20C>T rs1164145416 0.00001
NM_015404.4(WHRN):c.2247G>A (p.Thr749=) rs143997286 0.00001
NM_015404.4(WHRN):c.2284G>A (p.Glu762Lys) rs757731586 0.00001
NM_015404.4(WHRN):c.2308G>A (p.Glu770Lys) rs750380719 0.00001
NM_015404.4(WHRN):c.2340G>T (p.Arg780Ser) rs935520648 0.00001
NM_015404.4(WHRN):c.2343G>A (p.Gln781=) rs1302919018 0.00001
NM_015404.4(WHRN):c.2383C>T (p.Arg795Trp) rs545286422 0.00001
NM_015404.4(WHRN):c.2389G>A (p.Glu797Lys) rs753642608 0.00001
NM_015404.4(WHRN):c.2419C>G (p.Pro807Ala) rs569112844 0.00001
NM_015404.4(WHRN):c.2453G>A (p.Arg818His) rs762248099 0.00001
NM_015404.4(WHRN):c.2484C>T (p.Ile828=) rs777780045 0.00001
NM_015404.4(WHRN):c.2490C>T (p.Ile830=) rs1439979867 0.00001
NM_015404.4(WHRN):c.2541+3A>G rs1243315918 0.00001
NM_015404.4(WHRN):c.2548G>A (p.Gly850Ser) rs766123228 0.00001
NM_015404.4(WHRN):c.2567G>T (p.Gly856Val) rs371373433 0.00001
NM_015404.4(WHRN):c.2611A>G (p.Thr871Ala) rs779001003 0.00001
NM_015404.4(WHRN):c.2617C>T (p.Arg873Trp) rs267602096 0.00001
NM_015404.4(WHRN):c.2633G>A (p.Arg878Gln) rs138731082 0.00001
NM_015404.4(WHRN):c.2640C>T (p.Ala880=) rs1164818851 0.00001
NM_015404.4(WHRN):c.2656G>A (p.Glu886Lys) rs920350403 0.00001
NM_015404.4(WHRN):c.2673G>C (p.Lys891Asn) rs1834766525 0.00001
NM_015404.4(WHRN):c.2678G>A (p.Arg893His) rs773620841 0.00001
NM_015404.4(WHRN):c.26C>T (p.Ser9Leu) rs776268964 0.00001
NM_015404.4(WHRN):c.277A>T (p.Met93Leu) rs1428144829 0.00001
NM_015404.4(WHRN):c.318C>A (p.Phe106Leu) rs1218681189 0.00001
NM_015404.4(WHRN):c.360C>T (p.Thr120=) rs749635819 0.00001
NM_015404.4(WHRN):c.368G>A (p.Arg123Lys) rs1844213480 0.00001
NM_015404.4(WHRN):c.376G>A (p.Ala126Thr) rs1444564272 0.00001
NM_015404.4(WHRN):c.387C>T (p.Gly129=) rs758249538 0.00001
NM_015404.4(WHRN):c.390C>A (p.Pro130=) rs186148643 0.00001
NM_015404.4(WHRN):c.435T>A (p.Arg145=) rs745394370 0.00001
NM_015404.4(WHRN):c.553G>A (p.Gly185Arg) rs755922335 0.00001
NM_015404.4(WHRN):c.559C>T (p.Gln187Ter) rs1230382008 0.00001
NM_015404.4(WHRN):c.585C>T (p.Ser195=) rs565202482 0.00001
NM_015404.4(WHRN):c.596T>G (p.Val199Gly) rs750894411 0.00001
NM_015404.4(WHRN):c.599C>T (p.Thr200Ile) rs765757659 0.00001
NM_015404.4(WHRN):c.618+18A>G rs1474860451 0.00001
NM_015404.4(WHRN):c.634A>G (p.Lys212Glu) rs769843003 0.00001
NM_015404.4(WHRN):c.643G>A (p.Val215Met) rs375459436 0.00001
NM_015404.4(WHRN):c.664G>A (p.Gly222Arg) rs1841867800 0.00001
NM_015404.4(WHRN):c.684C>T (p.Tyr228=) rs377363590 0.00001
NM_015404.4(WHRN):c.690C>T (p.Thr230=) rs779112096 0.00001
NM_015404.4(WHRN):c.703A>G (p.Thr235Ala) rs754256328 0.00001
NM_015404.4(WHRN):c.725G>A (p.Arg242His) rs727505127 0.00001
NM_015404.4(WHRN):c.729C>T (p.Ser243=) rs1428346203 0.00001
NM_015404.4(WHRN):c.735C>T (p.Ser245=) rs1418229557 0.00001
NM_015404.4(WHRN):c.792C>T (p.Asp264=) rs1589229419 0.00001
NM_015404.4(WHRN):c.802A>G (p.Thr268Ala) rs1413974305 0.00001
NM_015404.4(WHRN):c.837+9G>A rs1032547196 0.00001
NM_015404.4(WHRN):c.856G>A (p.Asp286Asn) rs1840694003 0.00001
NM_015404.4(WHRN):c.858C>T (p.Asp286=) rs772431008 0.00001
NM_015404.4(WHRN):c.886G>A (p.Gly296Arg) rs748878766 0.00001
NM_015404.4(WHRN):c.901G>A (p.Gly301Ser) rs1226455178 0.00001
NM_015404.4(WHRN):c.945A>G (p.Ala315=) rs772458908 0.00001
NM_015404.4(WHRN):c.963+11G>C rs1295366771 0.00001
NC_000009.12:g.114505662G>T rs10817631
NM_015404.4(WHRN):c.-608_-601del rs150944893
NM_015404.4(WHRN):c.1005C>T (p.Leu335=)
NM_015404.4(WHRN):c.1008C>T (p.Asn336=) rs2132408391
NM_015404.4(WHRN):c.1017C>G (p.His339Gln) rs375732074
NM_015404.4(WHRN):c.1024G>T (p.Ala342Ser) rs1269773796
NM_015404.4(WHRN):c.1025C>T (p.Ala342Val) rs2132407937
NM_015404.4(WHRN):c.1040A>T (p.Lys347Met) rs1564139980
NM_015404.4(WHRN):c.1054C>G (p.Leu352Val) rs1836855238
NM_015404.4(WHRN):c.1054C>T (p.Leu352Phe) rs1836855238
NM_015404.4(WHRN):c.1080G>C (p.Gly360=) rs2132406880
NM_015404.4(WHRN):c.108T>C (p.Ser36=)
NM_015404.4(WHRN):c.1096C>G (p.Arg366Gly) rs530868944
NM_015404.4(WHRN):c.1096C>T (p.Arg366Cys)
NM_015404.4(WHRN):c.1110C>T (p.Asp370=)
NM_015404.4(WHRN):c.1126G>A (p.Ala376Thr) rs545251395
NM_015404.4(WHRN):c.1126G>T (p.Ala376Ser) rs545251395
NM_015404.4(WHRN):c.1128C>T (p.Ala376=) rs1202342697
NM_015404.4(WHRN):c.112A>G (p.Asn38Asp)
NM_015404.4(WHRN):c.1143G>C (p.Arg381Ser) rs748279121
NM_015404.4(WHRN):c.1162G>A (p.Ala388Thr)
NM_015404.4(WHRN):c.1164A>C (p.Ala388=) rs1181065976
NM_015404.4(WHRN):c.1166+17C>T
NM_015404.4(WHRN):c.1167-18G>A
NM_015404.4(WHRN):c.1167-265C>A rs2274162
NM_015404.4(WHRN):c.1177G>A (p.Asp393Asn) rs138164522
NM_015404.4(WHRN):c.1177G>C (p.Asp393His)
NM_015404.4(WHRN):c.1177G>T (p.Asp393Tyr)
NM_015404.4(WHRN):c.1199A>G (p.Asn400Ser) rs2132385900
NM_015404.4(WHRN):c.1203+13C>G
NM_015404.4(WHRN):c.1203+13C>T
NM_015404.4(WHRN):c.1203+20G>A
NM_015404.4(WHRN):c.1203+2T>C
NM_015404.4(WHRN):c.1203+8A>G
NM_015404.4(WHRN):c.1204-19C>G rs1176057337
NM_015404.4(WHRN):c.1231T>G (p.Ser411Ala) rs2132378594
NM_015404.4(WHRN):c.1232C>T (p.Ser411Phe) rs1836632084
NM_015404.4(WHRN):c.1238T>A (p.Val413Glu) rs1836631124
NM_015404.4(WHRN):c.1265dup (p.Arg423fs)
NM_015404.4(WHRN):c.1312del (p.Glu438fs) rs2132376874
NM_015404.4(WHRN):c.1317_1318delinsTA (p.Ala440Thr) rs2132376652
NM_015404.4(WHRN):c.131A>G (p.Gln44Arg) rs766912207
NM_015404.4(WHRN):c.1320C>A (p.Ala440=) rs2132376529
NM_015404.4(WHRN):c.1325T>C (p.Met442Thr)
NM_015404.4(WHRN):c.1329C>T (p.Ala443=)
NM_015404.4(WHRN):c.1334A>G (p.Tyr445Cys) rs777908643
NM_015404.4(WHRN):c.1348C>A (p.Arg450Ser) rs373094583
NM_015404.4(WHRN):c.1352_1353inv (p.Gly451Asp)
NM_015404.4(WHRN):c.1365T>G (p.Ser455=)
NM_015404.4(WHRN):c.136C>T (p.Leu46=)
NM_015404.4(WHRN):c.1371G>A (p.Glu457=)
NM_015404.4(WHRN):c.1374C>G (p.Ala458=)
NM_015404.4(WHRN):c.1377C>T (p.Leu459=)
NM_015404.4(WHRN):c.1381A>G (p.Met461Val)
NM_015404.4(WHRN):c.1389G>T (p.Leu463=) rs748769354
NM_015404.4(WHRN):c.1398G>A (p.Leu466=)
NM_015404.4(WHRN):c.1410C>T (p.His470=)
NM_015404.4(WHRN):c.1411G>A (p.Ala471Thr) rs1589107090
NM_015404.4(WHRN):c.1413C>T (p.Ala471=) rs2132374147
NM_015404.4(WHRN):c.1416+13C>G
NM_015404.4(WHRN):c.1416+15G>T rs763305432
NM_015404.4(WHRN):c.1417-1G>A rs779760634
NM_015404.4(WHRN):c.1417-3C>T
NM_015404.4(WHRN):c.1417-8G>C
NM_015404.4(WHRN):c.141C>A (p.Thr47=)
NM_015404.4(WHRN):c.1423C>T (p.Leu475Phe) rs1156730577
NM_015404.4(WHRN):c.1432G>A (p.Glu478Lys)
NM_015404.4(WHRN):c.1435G>A (p.Val479Met)
NM_015404.4(WHRN):c.143C>T (p.Ala48Val) rs1844248272
NM_015404.4(WHRN):c.1440A>G (p.Arg480=) rs2132360865
NM_015404.4(WHRN):c.1446C>T (p.Thr482=)
NM_015404.4(WHRN):c.1449T>A (p.Ile483=) rs2132360713
NM_015404.4(WHRN):c.1453C>T (p.Pro485Ser) rs1836509946
NM_015404.4(WHRN):c.1465G>A (p.Glu489Lys)
NM_015404.4(WHRN):c.1466A>G (p.Glu489Gly)
NM_015404.4(WHRN):c.1469G>A (p.Arg490His) rs587776360
NM_015404.4(WHRN):c.1482G>T (p.Leu494=) rs199930051
NM_015404.4(WHRN):c.1488G>A (p.Leu496=) rs2132359602
NM_015404.4(WHRN):c.1491G>C (p.Arg497Ser) rs558895210
NM_015404.4(WHRN):c.1491G>T (p.Arg497Ser)
NM_015404.4(WHRN):c.1507A>C (p.Met503Leu) rs201138894
NM_015404.4(WHRN):c.1507A>G (p.Met503Val) rs201138894
NM_015404.4(WHRN):c.1519C>T (p.Gln507Ter)
NM_015404.4(WHRN):c.1520A>T (p.Gln507Leu)
NM_015404.4(WHRN):c.1523C>T (p.Pro508Leu)
NM_015404.4(WHRN):c.1527A>G (p.Pro509=)
NM_015404.4(WHRN):c.1537G>C (p.Ala513Pro)
NM_015404.4(WHRN):c.1537G>T (p.Ala513Ser) rs749433283
NM_015404.4(WHRN):c.154G>T (p.Glu52Ter)
NM_015404.4(WHRN):c.1560C>G (p.Val520=) rs2132357579
NM_015404.4(WHRN):c.1562C>T (p.Ser521Phe)
NM_015404.4(WHRN):c.1563del (p.Tyr522fs)
NM_015404.4(WHRN):c.1565A>C (p.Tyr522Ser) rs755519779
NM_015404.4(WHRN):c.1565A>G (p.Tyr522Cys)
NM_015404.4(WHRN):c.1566C>T (p.Tyr522=)
NM_015404.4(WHRN):c.1573_1574del (p.Thr525fs) rs2132357300
NM_015404.4(WHRN):c.1574C>T (p.Thr525Met)
NM_015404.4(WHRN):c.1577G>C (p.Gly526Ala)
NM_015404.4(WHRN):c.1577G>T (p.Gly526Val)
NM_015404.4(WHRN):c.157_166del (p.Ala53fs) rs2133482258
NM_015404.4(WHRN):c.1586C>T (p.Thr529Ile)
NM_015404.4(WHRN):c.1598G>T (p.Gly533Val) rs772100554
NM_015404.4(WHRN):c.1612G>C (p.Val538Leu) rs781298298
NM_015404.4(WHRN):c.1619C>T (p.Ser540Leu)
NM_015404.4(WHRN):c.1620G>A (p.Ser540=) rs142855585
NM_015404.4(WHRN):c.1625G>C (p.Arg542Thr)
NM_015404.4(WHRN):c.1626+287del rs370330247
NM_015404.4(WHRN):c.1627-10C>A
NM_015404.4(WHRN):c.1627-13C>T
NM_015404.4(WHRN):c.1627-868_2312del
NM_015404.4(WHRN):c.1627A>G (p.Asn543Asp) rs2132222713
NM_015404.4(WHRN):c.1629C>T (p.Asn543=)
NM_015404.4(WHRN):c.1649C>G (p.Thr550Ser)
NM_015404.4(WHRN):c.164G>C (p.Arg55Pro) rs775066754
NM_015404.4(WHRN):c.1653C>A (p.Gly551=)
NM_015404.4(WHRN):c.1653C>T (p.Gly551=) rs149352129
NM_015404.4(WHRN):c.1662C>A (p.Val554=) rs2132222332
NM_015404.4(WHRN):c.1670A>G (p.Asn557Ser) rs1402399400
NM_015404.4(WHRN):c.1675A>C (p.Asn559His)
NM_015404.4(WHRN):c.1687G>C (p.Asp563His) rs1476809484
NM_015404.4(WHRN):c.1688_1690del (p.Asp563del) rs1835155734
NM_015404.4(WHRN):c.168G>A (p.Glu56=)
NM_015404.4(WHRN):c.1695C>G (p.Ser565=)
NM_015404.4(WHRN):c.1696G>A (p.Val566Met) rs189654215
NM_015404.4(WHRN):c.1698+253_1698+254insTGACTT rs56699228
NM_015404.4(WHRN):c.1698G>A (p.Val566=) rs765864891
NM_015404.4(WHRN):c.1699-17G>C
NM_015404.4(WHRN):c.171G>A (p.Gln57=) rs578204125
NM_015404.4(WHRN):c.1724G>T (p.Gly575Val)
NM_015404.4(WHRN):c.172T>C (p.Phe58Leu)
NM_015404.4(WHRN):c.1755A>C (p.Pro585=) rs1589065401
NM_015404.4(WHRN):c.1766C>T (p.Ala589Val) rs1835071299
NM_015404.4(WHRN):c.1777G>T (p.Asp593Tyr)
NM_015404.4(WHRN):c.1781T>C (p.Leu594Pro) rs1589065297
NM_015404.4(WHRN):c.1786C>T (p.Leu596=) rs943711317
NM_015404.4(WHRN):c.1803G>A (p.Lys601=)
NM_015404.4(WHRN):c.180C>T (p.His60=) rs2133481932
NM_015404.4(WHRN):c.1822C>T (p.Gln608Ter) rs1049970703
NM_015404.4(WHRN):c.1831T>A (p.Ser611Thr) rs2132213090
NM_015404.4(WHRN):c.1850C>G (p.Ser617Trp) rs150146590
NM_015404.4(WHRN):c.1850C>T (p.Ser617Leu) rs150146590
NM_015404.4(WHRN):c.1860C>T (p.Val620=) rs545711776
NM_015404.4(WHRN):c.1868C>A (p.Ala623Asp)
NM_015404.4(WHRN):c.1880G>A (p.Arg627His)
NM_015404.4(WHRN):c.1880G>T (p.Arg627Leu) rs191854666
NM_015404.4(WHRN):c.1890A>G (p.Pro630=)
NM_015404.4(WHRN):c.1917C>T (p.Thr639=) rs765742359
NM_015404.4(WHRN):c.1922C>G (p.Ser641Cys)
NM_015404.4(WHRN):c.1928A>T (p.Gln643Leu)
NM_015404.4(WHRN):c.1930G>A (p.Asp644Asn) rs201707482
NM_015404.4(WHRN):c.1930G>C (p.Asp644His) rs201707482
NM_015404.4(WHRN):c.1936C>T (p.Pro646Ser)
NM_015404.4(WHRN):c.1939T>C (p.Ser647Pro) rs2132211748
NM_015404.4(WHRN):c.1958C>G (p.Ser653Cys)
NM_015404.4(WHRN):c.1958_1959dup (p.Val654fs) rs2132211574
NM_015404.4(WHRN):c.1966C>T (p.Pro656Ser) rs1835051594
NM_015404.4(WHRN):c.1975C>T (p.Pro659Ser)
NM_015404.4(WHRN):c.1977C>T (p.Pro659=)
NM_015404.4(WHRN):c.1979G>A (p.Ser660Asn) rs1835050062
NM_015404.4(WHRN):c.2000C>T (p.Ala667Val) rs765997191
NM_015404.4(WHRN):c.2009C>T (p.Ala670Val) rs1378146164
NM_015404.4(WHRN):c.2010C>G (p.Ala670=) rs1177624878
NM_015404.4(WHRN):c.2010C>T (p.Ala670=) rs1177624878
NM_015404.4(WHRN):c.2018A>G (p.Asn673Ser)
NM_015404.4(WHRN):c.2025C>T (p.His675=)
NM_015404.4(WHRN):c.2037C>T (p.Pro679=)
NM_015404.4(WHRN):c.2045G>A (p.Arg682Gln)
NM_015404.4(WHRN):c.2045G>C (p.Arg682Pro) rs759899337
NM_015404.4(WHRN):c.2045G>T (p.Arg682Leu)
NM_015404.4(WHRN):c.2062C>T (p.His688Tyr) rs957399804
NM_015404.4(WHRN):c.2065C>G (p.Leu689Val)
NM_015404.4(WHRN):c.2070A>G (p.Lys690=) rs1835039919
NM_015404.4(WHRN):c.2074C>A (p.Pro692Thr) rs1835039409
NM_015404.4(WHRN):c.209del (p.Asn70fs) rs1844239683
NM_015404.4(WHRN):c.2100G>C (p.Gly700=) rs1220942085
NM_015404.4(WHRN):c.2102G>A (p.Gly701Asp)
NM_015404.4(WHRN):c.2118_2121del (p.Ser707fs)
NM_015404.4(WHRN):c.2137G>C (p.Asp713His)
NM_015404.4(WHRN):c.2139C>T (p.Asp713=) rs2132209625
NM_015404.4(WHRN):c.2173G>A (p.Glu725Lys) rs376805417
NM_015404.4(WHRN):c.2187del (p.Asp730fs) rs1835030174
NM_015404.4(WHRN):c.2194G>A (p.Glu732Lys) rs142857132
NM_015404.4(WHRN):c.219C>G (p.Asp73Glu) rs1321762587
NM_015404.4(WHRN):c.219C>T (p.Asp73=) rs1321762587
NM_015404.4(WHRN):c.2208T>C (p.Asn736=) rs2132209014
NM_015404.4(WHRN):c.2220G>A (p.Ala740=)
NM_015404.4(WHRN):c.2220G>T (p.Ala740=)
NM_015404.4(WHRN):c.2223G>C (p.Leu741=)
NM_015404.4(WHRN):c.2225C>T (p.Pro742Leu)
NM_015404.4(WHRN):c.2232G>A (p.Thr744=)
NM_015404.4(WHRN):c.2234G>C (p.Arg745Pro)
NM_015404.4(WHRN):c.2236+13A>C rs2132208650
NM_015404.4(WHRN):c.2236+17C>T rs2132208584
NM_015404.4(WHRN):c.2236+6T>A rs1835024592
NM_015404.4(WHRN):c.2236+84G>T rs10982200
NM_015404.4(WHRN):c.2237-15T>C rs1834861281
NM_015404.4(WHRN):c.2237-16del
NM_015404.4(WHRN):c.2237-17C>G rs758727396
NM_015404.4(WHRN):c.2237-17C>T
NM_015404.4(WHRN):c.2237-9C>A
NM_015404.4(WHRN):c.2262G>A (p.Ser754=)
NM_015404.4(WHRN):c.2269G>A (p.Gly757Arg)
NM_015404.4(WHRN):c.2274G>C (p.Gln758His) rs1466978390
NM_015404.4(WHRN):c.2277T>G (p.Thr759=) rs955966679
NM_015404.4(WHRN):c.2281A>G (p.Ser761Gly) rs2132191257
NM_015404.4(WHRN):c.228C>T (p.Arg76=)
NM_015404.4(WHRN):c.2290A>G (p.Ser764Gly) rs1834853946
NM_015404.4(WHRN):c.2291G>A (p.Ser764Asn) rs1319848263
NM_015404.4(WHRN):c.2304T>C (p.Ala768=)
NM_015404.4(WHRN):c.2309A>T (p.Glu770Val) rs1168947739
NM_015404.4(WHRN):c.2314G>A (p.Glu772Lys)
NM_015404.4(WHRN):c.231C>T (p.Thr77=) rs752135647
NM_015404.4(WHRN):c.2332C>T (p.Arg778Ter) rs137852839
NM_015404.4(WHRN):c.2333G>A (p.Arg778Gln) rs727505188
NM_015404.4(WHRN):c.2341C>G (p.Gln781Glu)
NM_015404.4(WHRN):c.2346G>A (p.Ser782=) rs145815879
NM_015404.4(WHRN):c.2346G>T (p.Ser782=)
NM_015404.4(WHRN):c.2348T>A (p.Val783Glu) rs2274159
NM_015404.4(WHRN):c.2348_2349inv (p.Val783Ala)
NM_015404.4(WHRN):c.2351C>G (p.Ser784Cys)
NM_015404.4(WHRN):c.2355C>T (p.Thr785=) rs1589058523
NM_015404.4(WHRN):c.2377C>G (p.Leu793Val)
NM_015404.4(WHRN):c.2379G>A (p.Leu793=)
NM_015404.4(WHRN):c.2388C>T (p.Asn796=) rs2274158
NM_015404.4(WHRN):c.2394G>A (p.Arg798=)
NM_015404.4(WHRN):c.2397C>T (p.Pro799=)
NM_015404.4(WHRN):c.2399C>T (p.Thr800Ile)
NM_015404.4(WHRN):c.2410A>C (p.Asn804His) rs1834841769
NM_015404.4(WHRN):c.2418+11_2418+12dup
NM_015404.4(WHRN):c.2418+14A>G
NM_015404.4(WHRN):c.2418+17A>C rs2132189654
NM_015404.4(WHRN):c.2419-18C>T rs1834804965
NM_015404.4(WHRN):c.2429T>C (p.Leu810Pro)
NM_015404.4(WHRN):c.2448G>A (p.Leu816=) rs1834802444
NM_015404.4(WHRN):c.2451C>T (p.Val817=)
NM_015404.4(WHRN):c.2457G>A (p.Val819=) rs2132185657
NM_015404.4(WHRN):c.2476C>T (p.Leu826=)
NM_015404.4(WHRN):c.2485G>T (p.Ala829Ser) rs139597771
NM_015404.4(WHRN):c.2491G>A (p.Glu831Lys)
NM_015404.4(WHRN):c.2492A>G (p.Glu831Gly) rs781538079
NM_015404.4(WHRN):c.2514_2515delinsTT (p.Gln838_Pro839delinsHisSer) rs2132185121
NM_015404.4(WHRN):c.252T>G (p.Ser84Arg) rs1274920421
NM_015404.4(WHRN):c.2541+13G>A rs985879604
NM_015404.4(WHRN):c.2541+13G>C rs985879604
NM_015404.4(WHRN):c.2541+15G>T
NM_015404.4(WHRN):c.2541+16C>T
NM_015404.4(WHRN):c.2541+17C>T
NM_015404.4(WHRN):c.2542-15G>T
NM_015404.4(WHRN):c.2542-8C>G
NM_015404.4(WHRN):c.2547C>T (p.Gly849=) rs751201674
NM_015404.4(WHRN):c.2556T>C (p.Ala852=) rs2132183000
NM_015404.4(WHRN):c.255G>C (p.Pro85=) rs372046806
NM_015404.4(WHRN):c.2562C>A (p.Asn854Lys) rs772831300
NM_015404.4(WHRN):c.257T>C (p.Val86Ala)
NM_015404.4(WHRN):c.2582G>A (p.Gly861Asp)
NM_015404.4(WHRN):c.258C>T (p.Val86=)
NM_015404.4(WHRN):c.2613G>A (p.Thr871=)
NM_015404.4(WHRN):c.2613G>T (p.Thr871=)
NM_015404.4(WHRN):c.2616T>G (p.Leu872=) rs144559047
NM_015404.4(WHRN):c.2618G>A (p.Arg873Gln) rs1301232723
NM_015404.4(WHRN):c.2620G>A (p.Gly874Ser) rs142732176
NM_015404.4(WHRN):c.262C>T (p.Arg88Trp)
NM_015404.4(WHRN):c.2631C>T (p.His877=) rs765930159
NM_015404.4(WHRN):c.2644C>A (p.Arg882Ser) rs150586098
NM_015404.4(WHRN):c.2644C>T (p.Arg882Cys) rs150586098
NM_015404.4(WHRN):c.2653G>C (p.Ala885Pro)
NM_015404.4(WHRN):c.2677C>G (p.Arg893Gly)
NM_015404.4(WHRN):c.2677C>T (p.Arg893Cys) rs138323921
NM_015404.4(WHRN):c.26C>A (p.Ser9Ter) rs776268964
NM_015404.4(WHRN):c.2701A>C (p.Thr901Pro)
NM_015404.4(WHRN):c.2722T>C (p.Ter908Gln) rs727505255
NM_015404.4(WHRN):c.277A>G (p.Met93Val)
NM_015404.4(WHRN):c.284G>C (p.Arg95Pro) rs2133479249
NM_015404.4(WHRN):c.291C>G (p.Val97=) rs755698714
NM_015404.4(WHRN):c.301T>G (p.Ser101Ala)
NM_015404.4(WHRN):c.310C>G (p.Leu104Val) rs2133478444
NM_015404.4(WHRN):c.315C>T (p.Leu105=)
NM_015404.4(WHRN):c.327C>A (p.Tyr109Ter)
NM_015404.4(WHRN):c.328A>G (p.Thr110Ala) rs572312301
NM_015404.4(WHRN):c.334G>A (p.Glu112Lys)
NM_015404.4(WHRN):c.348G>A (p.Leu116=)
NM_015404.4(WHRN):c.348G>C (p.Leu116=)
NM_015404.4(WHRN):c.348G>T (p.Leu116=)
NM_015404.4(WHRN):c.351C>T (p.Pro117=)
NM_015404.4(WHRN):c.35C>G (p.Ser12Trp) rs760261757
NM_015404.4(WHRN):c.362C>A (p.Pro121His) rs549584611
NM_015404.4(WHRN):c.362C>G (p.Pro121Arg) rs549584611
NM_015404.4(WHRN):c.366C>A (p.Tyr122Ter)
NM_015404.4(WHRN):c.390C>G (p.Pro130=)
NM_015404.4(WHRN):c.399G>C (p.Ala133=) rs753687219
NM_015404.4(WHRN):c.3G>C (p.Met1Ile)
NM_015404.4(WHRN):c.3G>T (p.Met1Ile) rs2133485628
NM_015404.4(WHRN):c.400G>A (p.Gly134Arg) rs761031396
NM_015404.4(WHRN):c.406G>A (p.Gly136Arg) rs775689658
NM_015404.4(WHRN):c.406G>C (p.Gly136Arg)
NM_015404.4(WHRN):c.413T>G (p.Val138Gly)
NM_015404.4(WHRN):c.443C>T (p.Ala148Val)
NM_015404.4(WHRN):c.444C>T (p.Ala148=)
NM_015404.4(WHRN):c.454T>C (p.Leu152=)
NM_015404.4(WHRN):c.464G>C (p.Ser155Thr) rs2133474681
NM_015404.4(WHRN):c.46G>A (p.Gly16Ser)
NM_015404.4(WHRN):c.489C>T (p.Gly163=) rs1844198299
NM_015404.4(WHRN):c.499T>G (p.Tyr167Asp)
NM_015404.4(WHRN):c.501del (p.Ile166_Tyr167insTer) rs2133473949
NM_015404.4(WHRN):c.506C>G (p.Ser169Cys) rs1844196010
NM_015404.4(WHRN):c.511G>A (p.Val171Met)
NM_015404.4(WHRN):c.512T>C (p.Val171Ala) rs2133473658
NM_015404.4(WHRN):c.519A>G (p.Pro173=) rs2133473537
NM_015404.4(WHRN):c.524C>G (p.Ser175Cys) rs2133473387
NM_015404.4(WHRN):c.540A>G (p.Glu180=) rs2133473118
NM_015404.4(WHRN):c.546G>T (p.Leu182=)
NM_015404.4(WHRN):c.552C>T (p.Val184=)
NM_015404.4(WHRN):c.553_565del (p.Gly185fs) rs1844189531
NM_015404.4(WHRN):c.55G>T (p.Gly19Cys) rs1344881617
NM_015404.4(WHRN):c.571G>T (p.Val191Phe) rs781410100
NM_015404.4(WHRN):c.584C>T (p.Ser195Phe)
NM_015404.4(WHRN):c.586C>G (p.Leu196Val)
NM_015404.4(WHRN):c.587T>C (p.Leu196Pro) rs1844185912
NM_015404.4(WHRN):c.603C>A (p.His201Gln) rs762111375
NM_015404.4(WHRN):c.612C>A (p.Ala204=) rs1484152634
NM_015404.4(WHRN):c.616A>G (p.Lys206Glu)
NM_015404.4(WHRN):c.618+125T>A rs76016219
NM_015404.4(WHRN):c.618+125_618+126del rs5900094
NM_015404.4(WHRN):c.618+126del rs5900094
NM_015404.4(WHRN):c.618+17G>A
NM_015404.4(WHRN):c.618+20A>C rs2133470915
NM_015404.4(WHRN):c.618+6G>C
NM_015404.4(WHRN):c.618+7C>T rs2133471156
NM_015404.4(WHRN):c.619-12C>G
NM_015404.4(WHRN):c.619-18G>T
NM_015404.4(WHRN):c.619-4C>G rs2133135036
NM_015404.4(WHRN):c.619-54C>T rs56168690
NM_015404.4(WHRN):c.619-66G>T rs7874870
NM_015404.4(WHRN):c.643G>T (p.Val215Leu) rs375459436
NM_015404.4(WHRN):c.654G>A (p.Val218=)
NM_015404.4(WHRN):c.667C>G (p.Arg223Gly)
NM_015404.4(WHRN):c.66C>T (p.Ala22=)
NM_015404.4(WHRN):c.680dup (p.Tyr228fs) rs1306987034
NM_015404.4(WHRN):c.683A>G (p.Tyr228Cys)
NM_015404.4(WHRN):c.685G>T (p.Val229Phe) rs1199178665
NM_015404.4(WHRN):c.696C>T (p.His232=) rs200605297
NM_015404.4(WHRN):c.699C>G (p.Ile233Met) rs1441658113
NM_015404.4(WHRN):c.69G>T (p.Gly23=) rs1474453921
NM_015404.4(WHRN):c.6C>T (p.Asn2=)
NM_015404.4(WHRN):c.70G>A (p.Ala24Thr)
NM_015404.4(WHRN):c.715_717delinsAAA (p.Pro239Lys)
NM_015404.4(WHRN):c.717G>A (p.Pro239=)
NM_015404.4(WHRN):c.718C>G (p.Gln240Glu) rs2133132912
NM_015404.4(WHRN):c.721G>C (p.Gly241Arg)
NM_015404.4(WHRN):c.722G>A (p.Gly241Asp) rs2133132806
NM_015404.4(WHRN):c.737C>T (p.Pro246Leu) rs1841857897
NM_015404.4(WHRN):c.737del (p.Pro246fs) rs1589229634
NM_015404.4(WHRN):c.73_88del (p.Gly25fs)
NM_015404.4(WHRN):c.740C>G (p.Pro247Arg) rs1478823101
NM_015404.4(WHRN):c.744G>A (p.Ser248=) rs397517259
NM_015404.4(WHRN):c.747C>G (p.Gly249=)
NM_015404.4(WHRN):c.74dup (p.Gly26fs) rs1844258324
NM_015404.4(WHRN):c.753C>T (p.Pro251=) rs368785016
NM_015404.4(WHRN):c.759C>T (p.Pro253=)
NM_015404.4(WHRN):c.75CGG[2] (p.Gly29del) rs757435431
NM_015404.4(WHRN):c.774G>A (p.Leu258=)
NM_015404.4(WHRN):c.793C>A (p.Arg265=)
NM_015404.4(WHRN):c.794G>A (p.Arg265Gln)
NM_015404.4(WHRN):c.7G>A (p.Ala3Thr) rs1844267552
NM_015404.4(WHRN):c.809A>G (p.His270Arg)
NM_015404.4(WHRN):c.812_826del (p.Leu271_Asp276delinsHis)
NM_015404.4(WHRN):c.816G>A (p.Leu272=) rs988074871
NM_015404.4(WHRN):c.837+10G>A
NM_015404.4(WHRN):c.837+7G>A
NM_015404.4(WHRN):c.838-11C>T
NM_015404.4(WHRN):c.838-13C>T
NM_015404.4(WHRN):c.838-5G>T rs775889426
NM_015404.4(WHRN):c.838-9C>T rs2132957378
NM_015404.4(WHRN):c.851T>C (p.Leu284Pro)
NM_015404.4(WHRN):c.852G>A (p.Leu284=) rs2132957097
NM_015404.4(WHRN):c.855G>A (p.Gly285=)
NM_015404.4(WHRN):c.856dup (p.Asp286fs) rs1064794551
NM_015404.4(WHRN):c.872G>T (p.Gly291Val)
NM_015404.4(WHRN):c.876C>T (p.Leu292=) rs1252438116
NM_015404.4(WHRN):c.884G>A (p.Arg295His)
NM_015404.4(WHRN):c.886G>T (p.Gly296Trp)
NM_015404.4(WHRN):c.894T>C (p.Ala298=) rs1840688688
NM_015404.4(WHRN):c.925G>A (p.Val309Met)
NM_015404.4(WHRN):c.929_948dup (p.Gly317fs) rs2132954843
NM_015404.4(WHRN):c.931C>T (p.Pro311Ser) rs2132955094
NM_015404.4(WHRN):c.943G>C (p.Ala315Pro) rs876657774
NM_015404.4(WHRN):c.955G>T (p.Gly319Trp) rs143165834
NM_015404.4(WHRN):c.963+6_963+7dup rs376737397
NM_015404.4(WHRN):c.963+9G>C rs1840681565
NM_015404.4(WHRN):c.964-4_964-3delinsTT rs1836866622
NM_015404.4(WHRN):c.978T>G (p.Ile326Met) rs2132408817
NM_015404.4(WHRN):c.979C>T (p.Leu327=)
NM_015404.4(WHRN):c.97_105dup (p.Leu35_Ser36insArgLeuLeu)
NM_015404.4(WHRN):c.993G>A (p.Gly331=) rs1026262740

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