ClinVar Miner

List of variants in gene INVS

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 941
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HGVS dbSNP gnomAD frequency
NM_014425.5(INVS):c.3091+94T>G rs3813712 0.70444
NM_014425.5(INVS):c.3016+48A>G rs7864494 0.67174
NM_014425.5(INVS):c.1235-171C>T rs1338121 0.53441
NM_014425.5(INVS):c.2412T>C (p.Ser804=) rs2787374 0.53208
NM_014425.5(INVS):c.615+227C>T rs2806684 0.53077
NM_014425.5(INVS):c.616-273C>T rs9299337 0.31020
NM_014425.5(INVS):c.1235-5T>C rs2245216 0.30271
NM_014425.5(INVS):c.274-110G>A rs56840267 0.18848
NM_014425.5(INVS):c.615+292A>G rs7029981 0.18836
NM_014425.5(INVS):c.615+221C>T rs11789335 0.18793
NM_014425.5(INVS):c.274-15_274-14del rs61147858 0.18785
NM_014425.5(INVS):c.274-316A>T rs57734783 0.18721
NM_014425.5(INVS):c.274-308_274-307insG rs11384901 0.18702
NM_014425.5(INVS):c.2068+31G>A rs11790431 0.18400
NM_014425.5(INVS):c.797-306T>C rs10989027 0.18235
NM_014425.5(INVS):c.2787-23C>G rs41274951 0.13745
NM_014425.5(INVS):c.2787-268C>T rs10989047 0.13349
NM_014425.5(INVS):c.1571+237G>A rs75959792 0.04344
NM_014425.5(INVS):c.273+46C>T rs76975466 0.03524
NM_014425.5(INVS):c.2402G>A (p.Gly801Glu) rs76868679 0.02854
NM_014425.5(INVS):c.616-19T>C rs78038572 0.01891
NM_014425.5(INVS):c.*467A>T rs10819755 0.00948
NM_014425.5(INVS):c.2069-278C>A rs146454439 0.00863
NM_014425.5(INVS):c.-155C>T rs62577237 0.00805
NM_014425.5(INVS):c.102C>T (p.Ile34=) rs115640267 0.00549
NM_014425.5(INVS):c.740A>G (p.Asn247Ser) rs41312220 0.00526
NM_014425.5(INVS):c.725C>T (p.Ser242Leu) rs2491097 0.00485
NM_014425.5(INVS):c.1948G>C (p.Ala650Pro) rs147452898 0.00394
NM_014425.5(INVS):c.2116A>G (p.Arg706Gly) rs116222916 0.00384
NM_014425.5(INVS):c.1284T>C (p.His428=) rs77465715 0.00312
NM_014425.5(INVS):c.2803C>T (p.His935Tyr) rs139768159 0.00232
NM_014425.5(INVS):c.-17C>T rs181463817 0.00194
NM_014425.5(INVS):c.3017-5T>G rs201018893 0.00177
NM_014425.5(INVS):c.2193C>T (p.Gly731=) rs148758887 0.00158
NM_014425.5(INVS):c.913G>A (p.Val305Ile) rs116438342 0.00140
NM_014425.5(INVS):c.2310C>T (p.His770=) rs116606949 0.00118
NM_014425.5(INVS):c.1945G>A (p.Val649Met) rs115042730 0.00087
NM_014425.5(INVS):c.1925A>G (p.Lys642Arg) rs116314059 0.00076
NM_014425.5(INVS):c.2311G>A (p.Asp771Asn) rs115754570 0.00074
NM_014425.5(INVS):c.1704G>A (p.Gly568=) rs114645869 0.00073
NM_014425.5(INVS):c.2775C>T (p.Arg925=) rs146360442 0.00071
NM_014425.5(INVS):c.2517G>A (p.Lys839=) rs147041710 0.00070
NM_014425.5(INVS):c.2454G>A (p.Ala818=) rs115937161 0.00067
NM_014425.5(INVS):c.367C>T (p.Arg123Trp) rs149315279 0.00067
NM_014425.5(INVS):c.2313T>C (p.Asp771=) rs147112151 0.00059
NM_014425.5(INVS):c.2386C>G (p.Gln796Glu) rs147731667 0.00058
NM_014425.5(INVS):c.1971C>G (p.Asp657Glu) rs114942117 0.00048
NM_014425.5(INVS):c.2785A>G (p.Ser929Gly) rs116188920 0.00048
NM_014425.5(INVS):c.2056A>G (p.Arg686Gly) rs150001738 0.00034
NM_014425.5(INVS):c.118C>G (p.Leu40Val) rs148219510 0.00032
NM_014425.5(INVS):c.2278T>G (p.Ser760Ala) rs146901872 0.00032
NM_014425.5(INVS):c.1122G>A (p.Lys374=) rs140255233 0.00026
NM_014425.5(INVS):c.2664T>C (p.Ser888=) rs1052867 0.00026
NM_014425.5(INVS):c.114T>C (p.Ser38=) rs114056499 0.00022
NM_014425.5(INVS):c.2200C>T (p.Arg734Trp) rs370949695 0.00022
NM_014425.5(INVS):c.67G>A (p.Val23Ile) rs145303373 0.00021
NM_014425.5(INVS):c.1785-20T>G rs200028895 0.00018
NM_014425.5(INVS):c.1459A>C (p.Lys487Gln) rs398124271 0.00016
NM_014425.5(INVS):c.1220A>C (p.Gln407Pro) rs374662619 0.00014
NM_014425.5(INVS):c.1264G>C (p.Asp422His) rs145243134 0.00014
NM_014425.5(INVS):c.*469A>T rs886063279 0.00013
NM_014425.5(INVS):c.1787A>G (p.Lys596Arg) rs751587570 0.00012
NM_014425.5(INVS):c.198T>C (p.Ala66=) rs150557072 0.00012
NM_014425.5(INVS):c.*5C>T rs371839458 0.00011
NM_014425.5(INVS):c.*73T>A rs886063273 0.00011
NM_014425.5(INVS):c.2685C>T (p.Pro895=) rs371932940 0.00011
NM_014425.5(INVS):c.706G>A (p.Val236Met) rs150883233 0.00011
NM_014425.5(INVS):c.2776G>A (p.Ala926Thr) rs374891838 0.00010
NM_014425.5(INVS):c.1661T>C (p.Ile554Thr) rs748753412 0.00009
NM_014425.5(INVS):c.1675G>A (p.Ala559Thr) rs199553226 0.00009
NM_014425.5(INVS):c.2695C>T (p.Arg899Ter) rs200844390 0.00009
NM_014425.5(INVS):c.284G>A (p.Arg95His) rs372088206 0.00009
NM_014425.5(INVS):c.307C>T (p.Arg103Cys) rs750863293 0.00009
NM_014425.5(INVS):c.3099C>T (p.Asn1033=) rs368303175 0.00009
NM_014425.5(INVS):c.2335C>T (p.Arg779Trp) rs370643191 0.00008
NM_014425.5(INVS):c.2740C>T (p.Arg914Cys) rs201904771 0.00008
NM_014425.5(INVS):c.1374C>A (p.Thr458=) rs114912725 0.00007
NM_014425.5(INVS):c.1038G>A (p.Ser346=) rs372355067 0.00006
NM_014425.5(INVS):c.1453del (p.Gln485fs) rs753348470 0.00006
NM_014425.5(INVS):c.1943A>G (p.Asn648Ser) rs116686341 0.00006
NM_014425.5(INVS):c.2444G>A (p.Arg815Gln) rs200477298 0.00006
NM_014425.5(INVS):c.2643T>C (p.Pro881=) rs201128300 0.00006
NM_014425.5(INVS):c.2673T>G (p.Ile891Met) rs775260392 0.00006
NM_014425.5(INVS):c.2720G>A (p.Arg907Gln) rs781064013 0.00006
NM_014425.5(INVS):c.2764G>C (p.Val922Leu) rs375031657 0.00006
NM_014425.5(INVS):c.2919C>A (p.Phe973Leu) rs374199927 0.00006
NM_014425.5(INVS):c.103G>A (p.Val35Ile) rs368173855 0.00005
NM_014425.5(INVS):c.1373C>G (p.Thr458Ser) rs745648344 0.00005
NM_014425.5(INVS):c.2089A>G (p.Lys697Glu) rs374381370 0.00005
NM_014425.5(INVS):c.274-14T>G rs201366153 0.00005
NM_014425.5(INVS):c.2782C>T (p.Arg928Ter) rs376879175 0.00005
NM_014425.5(INVS):c.2907G>A (p.Leu969=) rs148601487 0.00005
NM_014425.5(INVS):c.524T>C (p.Ile175Thr) rs766187142 0.00005
NM_014425.5(INVS):c.800A>G (p.His267Arg) rs747248321 0.00005
NM_014425.5(INVS):c.912G>A (p.Thr304=) rs141109039 0.00005
NM_014425.5(INVS):c.1107T>C (p.His369=) rs760637052 0.00004
NM_014425.5(INVS):c.1111A>G (p.Ser371Gly) rs200546215 0.00004
NM_014425.5(INVS):c.1117G>A (p.Val373Met) rs759162487 0.00004
NM_014425.5(INVS):c.1336A>C (p.Lys446Gln) rs370549699 0.00004
NM_014425.5(INVS):c.1465-15T>G rs772436028 0.00004
NM_014425.5(INVS):c.1490G>A (p.Cys497Tyr) rs1296545586 0.00004
NM_014425.5(INVS):c.1653C>T (p.Ile551=) rs781357714 0.00004
NM_014425.5(INVS):c.1913G>A (p.Arg638Gln) rs761806481 0.00004
NM_014425.5(INVS):c.2307G>A (p.Pro769=) rs140706545 0.00004
NM_014425.5(INVS):c.2443C>T (p.Arg815Trp) rs564509196 0.00004
NM_014425.5(INVS):c.2453C>T (p.Ala818Val) rs115324411 0.00004
NM_014425.5(INVS):c.286T>C (p.Phe96Leu) rs375188577 0.00004
NM_014425.5(INVS):c.3028G>A (p.Glu1010Lys) rs375774619 0.00004
NM_014425.5(INVS):c.972A>G (p.Thr324=) rs779527994 0.00004
NM_014425.5(INVS):c.*297A>G rs190277417 0.00003
NM_014425.5(INVS):c.1017A>C (p.Arg339Ser) rs201043963 0.00003
NM_014425.5(INVS):c.1059T>G (p.Ala353=) rs764198130 0.00003
NM_014425.5(INVS):c.1065A>C (p.Lys355Asn) rs146667666 0.00003
NM_014425.5(INVS):c.1116C>T (p.Thr372=) rs757492226 0.00003
NM_014425.5(INVS):c.1175C>T (p.Thr392Ile) rs747812451 0.00003
NM_014425.5(INVS):c.1639G>C (p.Gly547Arg) rs368682890 0.00003
NM_014425.5(INVS):c.1654G>A (p.Ala552Thr) rs748693441 0.00003
NM_014425.5(INVS):c.1669A>G (p.Ile557Val) rs762519529 0.00003
NM_014425.5(INVS):c.1727G>A (p.Arg576Gln) rs758506682 0.00003
NM_014425.5(INVS):c.1815G>C (p.Glu605Asp) rs540466137 0.00003
NM_014425.5(INVS):c.1944C>T (p.Asn648=) rs369319343 0.00003
NM_014425.5(INVS):c.197C>T (p.Ala66Val) rs772644712 0.00003
NM_014425.5(INVS):c.2201G>A (p.Arg734Gln) rs558958395 0.00003
NM_014425.5(INVS):c.2272G>A (p.Glu758Lys) rs767989658 0.00003
NM_014425.5(INVS):c.2279C>T (p.Ser760Phe) rs1324519096 0.00003
NM_014425.5(INVS):c.2337G>C (p.Arg779=) rs779298889 0.00003
NM_014425.5(INVS):c.2429G>A (p.Arg810His) rs772496111 0.00003
NM_014425.5(INVS):c.2604C>T (p.Ser868=) rs751765105 0.00003
NM_014425.5(INVS):c.2819G>A (p.Arg940Gln) rs369751285 0.00003
NM_014425.5(INVS):c.3153T>C (p.Tyr1051=) rs764214687 0.00003
NM_014425.5(INVS):c.444C>T (p.Asn148=) rs755575787 0.00003
NM_014425.5(INVS):c.595C>A (p.His199Asn) rs751348020 0.00003
NM_014425.5(INVS):c.796+4C>T rs371310920 0.00003
NM_014425.5(INVS):c.815A>C (p.His272Pro) rs151080341 0.00003
NM_014425.5(INVS):c.817C>T (p.Leu273Phe) rs776929488 0.00003
NM_014425.5(INVS):c.1079-13G>C rs373264811 0.00002
NM_014425.5(INVS):c.1465-8G>A rs370130702 0.00002
NM_014425.5(INVS):c.1607G>A (p.Arg536His) rs752692382 0.00002
NM_014425.5(INVS):c.166G>A (p.Val56Met) rs778036236 0.00002
NM_014425.5(INVS):c.1995T>C (p.Ser665=) rs762888351 0.00002
NM_014425.5(INVS):c.2001C>T (p.Gly667=) rs536554704 0.00002
NM_014425.5(INVS):c.2009T>C (p.Leu670Pro) rs762112247 0.00002
NM_014425.5(INVS):c.2068+2T>C rs777556837 0.00002
NM_014425.5(INVS):c.2204G>A (p.Cys735Tyr) rs375485537 0.00002
NM_014425.5(INVS):c.2247G>A (p.Arg749=) rs769950635 0.00002
NM_014425.5(INVS):c.2263G>A (p.Glu755Lys) rs774692372 0.00002
NM_014425.5(INVS):c.2285G>A (p.Arg762Gln) rs753540322 0.00002
NM_014425.5(INVS):c.2696G>A (p.Arg899Gln) rs142177132 0.00002
NM_014425.5(INVS):c.2760A>G (p.Ala920=) rs745573372 0.00002
NM_014425.5(INVS):c.2774G>A (p.Arg925His) rs370713515 0.00002
NM_014425.5(INVS):c.2959T>C (p.Ser987Pro) rs779291688 0.00002
NM_014425.5(INVS):c.3079C>T (p.Arg1027Cys) rs771248759 0.00002
NM_014425.5(INVS):c.3080G>A (p.Arg1027His) rs774849762 0.00002
NM_014425.5(INVS):c.3103C>G (p.Gln1035Glu) rs776279048 0.00002
NM_014425.5(INVS):c.3106T>C (p.Cys1036Arg) rs1444531400 0.00002
NM_014425.5(INVS):c.337G>A (p.Glu113Lys) rs747572974 0.00002
NM_014425.5(INVS):c.515A>G (p.Asp172Gly) rs377683634 0.00002
NM_014425.5(INVS):c.*45G>A rs1481874573 0.00001
NM_014425.5(INVS):c.-176C>T rs1241040246 0.00001
NM_014425.5(INVS):c.1016G>A (p.Arg339Lys) rs768193321 0.00001
NM_014425.5(INVS):c.1024C>T (p.Leu342=) rs761575712 0.00001
NM_014425.5(INVS):c.1048A>G (p.Ile350Val) rs767638762 0.00001
NM_014425.5(INVS):c.1056G>C (p.Met352Ile) rs752714293 0.00001
NM_014425.5(INVS):c.1078+1G>A rs375416014 0.00001
NM_014425.5(INVS):c.1079-7C>T rs1185982706 0.00001
NM_014425.5(INVS):c.10T>G (p.Ser4Ala) rs1827109569 0.00001
NM_014425.5(INVS):c.1104C>T (p.Gly368=) rs775686671 0.00001
NM_014425.5(INVS):c.1177C>G (p.Pro393Ala) rs1441776664 0.00001
NM_014425.5(INVS):c.1186C>T (p.Arg396Ter) rs773049314 0.00001
NM_014425.5(INVS):c.1235-18A>G rs1438355327 0.00001
NM_014425.5(INVS):c.1256T>C (p.Val419Ala) rs1212072950 0.00001
NM_014425.5(INVS):c.1317C>T (p.Cys439=) rs886063266 0.00001
NM_014425.5(INVS):c.1361A>C (p.Tyr454Ser) rs756863097 0.00001
NM_014425.5(INVS):c.1379T>G (p.Leu460Trp) rs878854980 0.00001
NM_014425.5(INVS):c.1387G>A (p.Ala463Thr) rs770018625 0.00001
NM_014425.5(INVS):c.1436A>G (p.Asn479Ser) rs773285164 0.00001
NM_014425.5(INVS):c.1482T>C (p.His494=) rs577839314 0.00001
NM_014425.5(INVS):c.1484G>A (p.Trp495Ter) rs149055711 0.00001
NM_014425.5(INVS):c.1508A>G (p.Asp503Gly) rs1832737838 0.00001
NM_014425.5(INVS):c.154C>T (p.Leu52Phe) rs758283111 0.00001
NM_014425.5(INVS):c.1572A>G (p.Arg524=) rs187927206 0.00001
NM_014425.5(INVS):c.1595T>C (p.Leu532Ser) rs1446860684 0.00001
NM_014425.5(INVS):c.1606C>T (p.Arg536Cys) rs1228736160 0.00001
NM_014425.5(INVS):c.1633G>C (p.Glu545Gln) rs1832999935 0.00001
NM_014425.5(INVS):c.1671C>T (p.Ile557=) rs770524429 0.00001
NM_014425.5(INVS):c.1686C>G (p.Ile562Met) rs767346175 0.00001
NM_014425.5(INVS):c.1784+7A>T rs1036479094 0.00001
NM_014425.5(INVS):c.1789C>T (p.Arg597Ter) rs755288504 0.00001
NM_014425.5(INVS):c.1790G>T (p.Arg597Leu) rs1291135236 0.00001
NM_014425.5(INVS):c.1797A>G (p.Glu599=) rs1192378189 0.00001
NM_014425.5(INVS):c.1807C>T (p.Arg603Ter) rs121964994 0.00001
NM_014425.5(INVS):c.1976G>A (p.Arg659Lys) rs201738845 0.00001
NM_014425.5(INVS):c.1978G>A (p.Gly660Arg) rs1833374932 0.00001
NM_014425.5(INVS):c.1980A>G (p.Gly660=) rs139314036 0.00001
NM_014425.5(INVS):c.1992G>A (p.Gly664=) rs769810980 0.00001
NM_014425.5(INVS):c.2021A>G (p.Gln674Arg) rs750909979 0.00001
NM_014425.5(INVS):c.2031C>T (p.Ser677=) rs756240366 0.00001
NM_014425.5(INVS):c.2035G>T (p.Asp679Tyr) rs751056550 0.00001
NM_014425.5(INVS):c.2062C>T (p.Pro688Ser) rs769487492 0.00001
NM_014425.5(INVS):c.2108T>C (p.Val703Ala) rs1285423022 0.00001
NM_014425.5(INVS):c.2156T>C (p.Val719Ala) rs1379171622 0.00001
NM_014425.5(INVS):c.2189C>T (p.Ala730Val) rs763766362 0.00001
NM_014425.5(INVS):c.2210A>G (p.Lys737Arg) rs1008214234 0.00001
NM_014425.5(INVS):c.2224G>A (p.Val742Met) rs115598824 0.00001
NM_014425.5(INVS):c.2260G>A (p.Asp754Asn) rs115401137 0.00001
NM_014425.5(INVS):c.2284C>T (p.Arg762Trp) rs763460118 0.00001
NM_014425.5(INVS):c.2336G>A (p.Arg779Gln) rs771128055 0.00001
NM_014425.5(INVS):c.2380C>T (p.Arg794Cys) rs556807161 0.00001
NM_014425.5(INVS):c.2381G>A (p.Arg794His) rs766040970 0.00001
NM_014425.5(INVS):c.2394C>G (p.Leu798=) rs751531097 0.00001
NM_014425.5(INVS):c.2417C>T (p.Ala806Val) rs201824415 0.00001
NM_014425.5(INVS):c.2428C>T (p.Arg810Cys) rs984016152 0.00001
NM_014425.5(INVS):c.2468A>G (p.Gln823Arg) rs752586599 0.00001
NM_014425.5(INVS):c.2485C>T (p.Arg829Cys) rs780527510 0.00001
NM_014425.5(INVS):c.2519T>C (p.Leu840Pro) rs772783995 0.00001
NM_014425.5(INVS):c.2539C>T (p.His847Tyr) rs1041470924 0.00001
NM_014425.5(INVS):c.2570C>T (p.Ser857Leu) rs775418651 0.00001
NM_014425.5(INVS):c.2603C>T (p.Ser868Phe) rs1300344847 0.00001
NM_014425.5(INVS):c.2714G>A (p.Arg905Lys) rs753100317 0.00001
NM_014425.5(INVS):c.2783G>A (p.Arg928Gln) rs376463532 0.00001
NM_014425.5(INVS):c.2786+18T>C rs1362322226 0.00001
NM_014425.5(INVS):c.2786+1G>A rs935629850 0.00001
NM_014425.5(INVS):c.27T>C (p.Phe9=) rs777589570 0.00001
NM_014425.5(INVS):c.283C>T (p.Arg95Cys) rs1189239222 0.00001
NM_014425.5(INVS):c.2847T>C (p.Asp949=) rs144478818 0.00001
NM_014425.5(INVS):c.2850G>T (p.Val950=) rs765818859 0.00001
NM_014425.5(INVS):c.2851G>A (p.Asp951Asn) rs1833809920 0.00001
NM_014425.5(INVS):c.2888A>T (p.Gln963Leu) rs996350769 0.00001
NM_014425.5(INVS):c.3016+13C>A rs767170405 0.00001
NM_014425.5(INVS):c.3016+5C>T rs142606077 0.00001
NM_014425.5(INVS):c.3017-18del rs761040482 0.00001
NM_014425.5(INVS):c.301C>T (p.Leu101Phe) rs757623556 0.00001
NM_014425.5(INVS):c.3027C>T (p.His1009=) rs201136636 0.00001
NM_014425.5(INVS):c.3068C>T (p.Ser1023Phe) rs769993446 0.00001
NM_014425.5(INVS):c.3071C>T (p.Ser1024Phe) rs778164167 0.00001
NM_014425.5(INVS):c.3149C>T (p.Ser1050Phe) rs969660773 0.00001
NM_014425.5(INVS):c.3184A>G (p.Lys1062Glu) rs750609488 0.00001
NM_014425.5(INVS):c.319T>G (p.Trp107Gly) rs1831309953 0.00001
NM_014425.5(INVS):c.33T>C (p.Gly11=) rs1554713054 0.00001
NM_014425.5(INVS):c.349C>G (p.Pro117Ala) rs1021818693 0.00001
NM_014425.5(INVS):c.368G>A (p.Arg123Gln) rs757534991 0.00001
NM_014425.5(INVS):c.433C>A (p.Gln145Lys) rs745703727 0.00001
NM_014425.5(INVS):c.464G>A (p.Trp155Ter) rs1007394906 0.00001
NM_014425.5(INVS):c.48A>G (p.Ser16=) rs1827110732 0.00001
NM_014425.5(INVS):c.500T>C (p.Leu167Pro) rs374420212 0.00001
NM_014425.5(INVS):c.501G>A (p.Leu167=) rs767884283 0.00001
NM_014425.5(INVS):c.520A>C (p.Asn174His) rs370730139 0.00001
NM_014425.5(INVS):c.538G>A (p.Val180Ile) rs1206727122 0.00001
NM_014425.5(INVS):c.572A>G (p.Asn191Ser) rs1831448800 0.00001
NM_014425.5(INVS):c.590C>G (p.Ala197Gly) rs774469922 0.00001
NM_014425.5(INVS):c.625C>T (p.Pro209Ser) rs144729900 0.00001
NM_014425.5(INVS):c.646T>G (p.Trp216Gly) rs1446856893 0.00001
NM_014425.5(INVS):c.657C>T (p.Tyr219=) rs1424949239 0.00001
NM_014425.5(INVS):c.658G>A (p.Glu220Lys) rs759684253 0.00001
NM_014425.5(INVS):c.66C>T (p.Ala22=) rs1419957613 0.00001
NM_014425.5(INVS):c.727T>C (p.Tyr243His) rs1206942379 0.00001
NM_014425.5(INVS):c.747G>A (p.Thr249=) rs570134046 0.00001
NM_014425.5(INVS):c.796+5G>A rs1272619479 0.00001
NM_014425.5(INVS):c.819C>G (p.Leu273=) rs1448130159 0.00001
NM_014425.5(INVS):c.833A>G (p.Asn278Ser) rs1831914143 0.00001
NM_014425.5(INVS):c.867A>C (p.Gly289=) rs1227795087 0.00001
NM_014425.5(INVS):c.889G>A (p.Ala297Thr) rs116475199 0.00001
NM_014425.5(INVS):c.890C>T (p.Ala297Val) rs759327541 0.00001
NM_014425.5(INVS):c.900C>T (p.Asn300=) rs752481190 0.00001
NM_014425.5(INVS):c.907-4A>C rs765148031 0.00001
NM_014425.5(INVS):c.907-7C>G rs1299007196 0.00001
NM_014425.5(INVS):c.938C>T (p.Ser313Leu) rs756222867 0.00001
NM_014425.5(INVS):c.962A>G (p.Glu321Gly) rs749655348 0.00001
NM_014425.5(INVS):c.978T>G (p.Phe326Leu) rs1457973181 0.00001
NM_014425.5(INVS):c.986C>T (p.Ala329Val) rs1202806202 0.00001
NM_014425.5(INVS):c.997G>T (p.Gly333Cys) rs746333759 0.00001
GRCh37/hg19 9q31.1(chr9:102909159-102988115)x1
GRCh37/hg19 9q31.1(chr9:102911709-103044374)x1
GRCh37/hg19 9q31.1(chr9:102965586-103023946)x1
GRCh37/hg19 9q31.1(chr9:103059178-103060312)
NC_000009.11:g.(?_102866804)_(103035378_?)dup
NC_000009.11:g.(?_102988324)_(103062956_?)dup
NC_000009.11:g.(?_103004832)_(103009089_?)del
NC_000009.11:g.(?_103008898)_(103009069_?)del
NC_000009.11:g.(?_103014545)_(103015438_?)del
NC_000009.11:g.(?_103027084)_(103035378_?)del
NC_000009.12:g.(?_100104498)_(100104627_?)del
NC_000009.12:g.(?_100126363)_(100126569_?)del
NC_000009.12:g.(?_100226042)_(100226255_?)del
NM_014425.5(INVS):c.*158T>C rs1833944803
NM_014425.5(INVS):c.*323A>T rs1833949389
NM_014425.5(INVS):c.*352A>T rs1481868199
NM_014425.5(INVS):c.*415A>G rs1833951689
NM_014425.5(INVS):c.*466CA[18] rs10527613
NM_014425.5(INVS):c.*466CA[19] rs10527613
NM_014425.5(INVS):c.*466CA[21] rs10527613
NM_014425.5(INVS):c.*466CA[23] rs10527613
NM_014425.5(INVS):c.*466_*467insTCAC rs200314659
NM_014425.5(INVS):c.*466_*467insTCACAC rs200314659
NM_014425.5(INVS):c.*98A>G rs886063274
NM_014425.5(INVS):c.-178G>A rs886063263
NM_014425.5(INVS):c.1002T>C (p.Ser334=)
NM_014425.5(INVS):c.1005T>C (p.Asp335=)
NM_014425.5(INVS):c.1006G>A (p.Asp336Asn) rs760384200
NM_014425.5(INVS):c.1011C>T (p.Val337=)
NM_014425.5(INVS):c.1022T>G (p.Met341Arg) rs1397165748
NM_014425.5(INVS):c.1037C>A (p.Ser346Ter)
NM_014425.5(INVS):c.1041C>T (p.Asp347=)
NM_014425.5(INVS):c.104T>C (p.Val35Ala)
NM_014425.5(INVS):c.1051A>C (p.Asn351His) rs1564174503
NM_014425.5(INVS):c.106+14_106+15insAC
NM_014425.5(INVS):c.106+15T>G
NM_014425.5(INVS):c.106+17A>T
NM_014425.5(INVS):c.106+18G>A
NM_014425.5(INVS):c.106+19dup rs1564114408
NM_014425.5(INVS):c.106+20A>G
NM_014425.5(INVS):c.106+3A>C rs1827113455
NM_014425.5(INVS):c.106+6C>T rs1196750401
NM_014425.5(INVS):c.106+7A>G
NM_014425.5(INVS):c.1068T>C (p.Tyr356=)
NM_014425.5(INVS):c.107-17G>A
NM_014425.5(INVS):c.107-1G>A
NM_014425.5(INVS):c.107-7C>T rs1564123526
NM_014425.5(INVS):c.107-9T>C
NM_014425.5(INVS):c.1078+10G>T
NM_014425.5(INVS):c.1078+11G>A
NM_014425.5(INVS):c.1078+15A>G
NM_014425.5(INVS):c.1078+18C>T
NM_014425.5(INVS):c.1078+19A>G
NM_014425.5(INVS):c.1078+242C>T rs34314753
NM_014425.5(INVS):c.1078+6_1078+9dup rs1431121294
NM_014425.5(INVS):c.1078+9T>C
NM_014425.5(INVS):c.1079-10T>A
NM_014425.5(INVS):c.1079-13G>T
NM_014425.5(INVS):c.1079-6T>C
NM_014425.5(INVS):c.1099T>C (p.Ser367Pro)
NM_014425.5(INVS):c.1113C>T (p.Ser371=) rs2118558999
NM_014425.5(INVS):c.1128A>T (p.Leu376Phe) rs2118559115
NM_014425.5(INVS):c.1131G>A (p.Leu377=) rs780406236
NM_014425.5(INVS):c.1135A>G (p.Asn379Asp) rs1832262518
NM_014425.5(INVS):c.1140T>C (p.Asn380=)
NM_014425.5(INVS):c.1162_1163del (p.Val388fs)
NM_014425.5(INVS):c.1171C>T (p.His391Tyr) rs1181379253
NM_014425.5(INVS):c.1174A>G (p.Thr392Ala)
NM_014425.5(INVS):c.1189G>A (p.Ala397Thr)
NM_014425.5(INVS):c.118C>T (p.Leu40Phe) rs148219510
NM_014425.5(INVS):c.1200G>A (p.Met400Ile)
NM_014425.5(INVS):c.1208A>G (p.Lys403Arg) rs1564176658
NM_014425.5(INVS):c.1211del (p.Asp404fs)
NM_014425.5(INVS):c.1219C>T (p.Gln407Ter)
NM_014425.5(INVS):c.1223C>T (p.Thr408Ile)
NM_014425.5(INVS):c.1234+15G>A
NM_014425.5(INVS):c.1234+15G>C
NM_014425.5(INVS):c.1234+17A>T
NM_014425.5(INVS):c.1234+18C>T
NM_014425.5(INVS):c.1234+19T>C
NM_014425.5(INVS):c.1234+2T>G
NM_014425.5(INVS):c.1234+7T>C
NM_014425.5(INVS):c.1235-10G>A
NM_014425.5(INVS):c.1235-12G>A
NM_014425.5(INVS):c.1235-19_1235-17del
NM_014425.5(INVS):c.1235-4C>G
NM_014425.5(INVS):c.1252C>T (p.Leu418=)
NM_014425.5(INVS):c.1254A>G (p.Leu418=)
NM_014425.5(INVS):c.1255G>C (p.Val419Leu) rs2118562526
NM_014425.5(INVS):c.1262A>T (p.Gln421Leu)
NM_014425.5(INVS):c.1266T>C (p.Asp422=)
NM_014425.5(INVS):c.1272T>C (p.His424=) rs2118562757
NM_014425.5(INVS):c.1275T>C (p.Ser425=)
NM_014425.5(INVS):c.127_129del (p.Lys43del) rs757721719
NM_014425.5(INVS):c.1297G>A (p.Gly433Arg) rs2118562856
NM_014425.5(INVS):c.1308T>G (p.Ala436=)
NM_014425.5(INVS):c.1315T>G (p.Cys439Gly)
NM_014425.5(INVS):c.1317C>A (p.Cys439Ter)
NM_014425.5(INVS):c.131A>C (p.Glu44Ala) rs1564123563
NM_014425.5(INVS):c.1321A>C (p.Ile441Leu) rs1832286801
NM_014425.5(INVS):c.132A>G (p.Glu44=)
NM_014425.5(INVS):c.1342A>G (p.Asn448Asp) rs2118563086
NM_014425.5(INVS):c.1344T>C (p.Asn448=)
NM_014425.5(INVS):c.1345C>T (p.Pro449Ser) rs753443905
NM_014425.5(INVS):c.1346C>T (p.Pro449Leu) rs1832287614
NM_014425.5(INVS):c.1347A>T (p.Pro449=)
NM_014425.5(INVS):c.1353C>A (p.Val451=) rs1488900404
NM_014425.5(INVS):c.1353C>T (p.Val451=)
NM_014425.5(INVS):c.1354C>T (p.Gln452Ter)
NM_014425.5(INVS):c.1355A>C (p.Gln452Pro) rs2118563198
NM_014425.5(INVS):c.1356G>A (p.Gln452=)
NM_014425.5(INVS):c.1366G>C (p.Gly456Arg) rs1019928360
NM_014425.5(INVS):c.1367del (p.Gly456fs)
NM_014425.5(INVS):c.1378T>C (p.Leu460=)
NM_014425.5(INVS):c.1392A>C (p.Ala464=) rs1312406580
NM_014425.5(INVS):c.1392A>G (p.Ala464=)
NM_014425.5(INVS):c.1392A>T (p.Ala464=)
NM_014425.5(INVS):c.1396G>A (p.Gly466Arg) rs1554726564
NM_014425.5(INVS):c.1399G>C (p.Gly467Arg) rs2118563520
NM_014425.5(INVS):c.1401C>T (p.Gly467=) rs1377027576
NM_014425.5(INVS):c.1407C>T (p.Ile469=)
NM_014425.5(INVS):c.1413C>T (p.Cys471=)
NM_014425.5(INVS):c.1417del (p.Ala473fs) rs878855332
NM_014425.5(INVS):c.1420G>A (p.Val474Ile)
NM_014425.5(INVS):c.1422T>C (p.Val474=)
NM_014425.5(INVS):c.1423C>T (p.Leu475Phe)
NM_014425.5(INVS):c.1429G>A (p.Glu477Lys) rs1832291428
NM_014425.5(INVS):c.1440A>G (p.Ala480=)
NM_014425.5(INVS):c.1461A>G (p.Lys487=)
NM_014425.5(INVS):c.1464+10C>G
NM_014425.5(INVS):c.1464+12G>A
NM_014425.5(INVS):c.1464+1G>A rs375753623
NM_014425.5(INVS):c.1464+1G>T rs375753623
NM_014425.5(INVS):c.1464+289_1464+290del rs58891678
NM_014425.5(INVS):c.1464+290del rs58891678
NM_014425.5(INVS):c.1465-14G>A
NM_014425.5(INVS):c.1465-188del rs36049678
NM_014425.5(INVS):c.1465-19T>C
NM_014425.5(INVS):c.1465G>T (p.Gly489Ter)
NM_014425.5(INVS):c.1466G>A (p.Gly489Glu) rs1015507237
NM_014425.5(INVS):c.1473A>G (p.Thr491=)
NM_014425.5(INVS):c.1478T>C (p.Leu493Ser) rs121964995
NM_014425.5(INVS):c.1479G>C (p.Leu493Phe)
NM_014425.5(INVS):c.1492A>T (p.Asn498Tyr) rs1832737510
NM_014425.5(INVS):c.1494C>T (p.Asn498=)
NM_014425.5(INVS):c.1496A>G (p.Asn499Ser) rs1564182761
NM_014425.5(INVS):c.1497T>C (p.Asn499=)
NM_014425.5(INVS):c.149C>T (p.Thr50Ile)
NM_014425.5(INVS):c.1503C>G (p.Tyr501Ter)
NM_014425.5(INVS):c.1506T>C (p.Leu502=)
NM_014425.5(INVS):c.1508A>T (p.Asp503Val) rs1832737838
NM_014425.5(INVS):c.1536T>C (p.Ala512=)
NM_014425.5(INVS):c.1537G>A (p.Ala513Thr)
NM_014425.5(INVS):c.153A>G (p.Pro51=) rs1348116871
NM_014425.5(INVS):c.1544C>T (p.Pro515Leu) rs1173094879
NM_014425.5(INVS):c.1547A>G (p.Asn516Ser)
NM_014425.5(INVS):c.1548T>G (p.Asn516Lys)
NM_014425.5(INVS):c.1560C>T (p.Asn520=) rs201691547
NM_014425.5(INVS):c.1561A>C (p.Asn521His) rs2118629746
NM_014425.5(INVS):c.1566_1567AG[4] (p.Tyr525fs)
NM_014425.5(INVS):c.1571+15A>G
NM_014425.5(INVS):c.1571+17T>A
NM_014425.5(INVS):c.1571+2dup rs1554728033
NM_014425.5(INVS):c.1571+5G>A rs1832740394
NM_014425.5(INVS):c.1572-12C>T
NM_014425.5(INVS):c.1572-16C>A
NM_014425.5(INVS):c.1576A>G (p.Thr526Ala) rs1050540680
NM_014425.5(INVS):c.1578A>G (p.Thr526=)
NM_014425.5(INVS):c.1581C>T (p.Pro527=)
NM_014425.5(INVS):c.1584T>A (p.Leu528=) rs1832998425
NM_014425.5(INVS):c.158T>C (p.Met53Thr) rs748223529
NM_014425.5(INVS):c.1590T>C (p.Tyr530=)
NM_014425.5(INVS):c.1599T>C (p.Leu533=)
NM_014425.5(INVS):c.1604A>G (p.Glu535Gly) rs1832999071
NM_014425.5(INVS):c.1608C>A (p.Arg536=)
NM_014425.5(INVS):c.162T>C (p.Tyr54=)
NM_014425.5(INVS):c.1630T>C (p.Leu544=) rs1441867275
NM_014425.5(INVS):c.1632G>A (p.Leu544=)
NM_014425.5(INVS):c.1638C>T (p.His546=) rs758665047
NM_014425.5(INVS):c.1639G>A (p.Gly547Ser) rs368682890
NM_014425.5(INVS):c.1641T>C (p.Gly547=)
NM_014425.5(INVS):c.1659C>T (p.Ala553=)
NM_014425.5(INVS):c.165C>T (p.Cys55=)
NM_014425.5(INVS):c.1663C>T (p.Gln555Ter)
NM_014425.5(INVS):c.1667A>C (p.Asp556Ala)
NM_014425.5(INVS):c.1670T>G (p.Ile557Ser) rs1833001296
NM_014425.5(INVS):c.1672G>A (p.Ala558Thr)
NM_014425.5(INVS):c.1674C>A (p.Ala558=) rs143140689
NM_014425.5(INVS):c.1674C>T (p.Ala558=)
NM_014425.5(INVS):c.1683A>G (p.Lys561=)
NM_014425.5(INVS):c.1690del (p.Ala564fs)
NM_014425.5(INVS):c.1695C>G (p.Val565=)
NM_014425.5(INVS):c.1698C>T (p.Tyr566=) rs2118669089
NM_014425.5(INVS):c.1710G>A (p.Lys570=) rs750545598
NM_014425.5(INVS):c.1712T>C (p.Val571Ala) rs1236753815
NM_014425.5(INVS):c.1717A>T (p.Lys573Ter)
NM_014425.5(INVS):c.1726C>T (p.Arg576Ter)
NM_014425.5(INVS):c.1731C>T (p.Asp577=)
NM_014425.5(INVS):c.1758A>G (p.Glu586=)
NM_014425.5(INVS):c.1760del (p.Gln587fs) rs1833004339
NM_014425.5(INVS):c.1765A>C (p.Arg589=)
NM_014425.5(INVS):c.1773T>C (p.Asp591=)
NM_014425.5(INVS):c.1774G>C (p.Ala592Pro)
NM_014425.5(INVS):c.177_180dup (p.Leu61fs) rs1564123602
NM_014425.5(INVS):c.1784+15C>T
NM_014425.5(INVS):c.1784+16G>A
NM_014425.5(INVS):c.1784+19G>A
NM_014425.5(INVS):c.1784+6T>C
NM_014425.5(INVS):c.1784+8T>C rs781669059
NM_014425.5(INVS):c.1784+8T>G rs781669059
NM_014425.5(INVS):c.1784A>C (p.Lys595Thr) rs2118669515
NM_014425.5(INVS):c.1785-14G>A rs2118724157
NM_014425.5(INVS):c.1785-18C>G
NM_014425.5(INVS):c.1785-20T>C
NM_014425.5(INVS):c.178A>C (p.Arg60=) rs886038603
NM_014425.5(INVS):c.178A>G (p.Arg60Gly) rs886038603
NM_014425.5(INVS):c.1790G>A (p.Arg597Gln) rs1291135236
NM_014425.5(INVS):c.1793_1794del (p.Glu598fs)
NM_014425.5(INVS):c.1808G>A (p.Arg603Gln) rs372596288
NM_014425.5(INVS):c.1811_1812del (p.Lys604fs) rs1588145141
NM_014425.5(INVS):c.1812del (p.Glu605fs)
NM_014425.5(INVS):c.1813G>A (p.Glu605Lys)
NM_014425.5(INVS):c.1818A>C (p.Ala606=)
NM_014425.5(INVS):c.1821A>G (p.Glu607=)
NM_014425.5(INVS):c.1822del (p.Gln608fs)
NM_014425.5(INVS):c.1833A>G (p.Gly611=)
NM_014425.5(INVS):c.1836G>A (p.Arg612=) rs1442102915
NM_014425.5(INVS):c.1837C>A (p.Arg613=)
NM_014425.5(INVS):c.1837C>T (p.Arg613Trp) rs529208660
NM_014425.5(INVS):c.1838G>C (p.Arg613Pro) rs774635980
NM_014425.5(INVS):c.1842C>G (p.Ser614Arg) rs1564190202
NM_014425.5(INVS):c.1854C>T (p.Cys618=)
NM_014425.5(INVS):c.1865C>T (p.Ala622Val)
NM_014425.5(INVS):c.186T>C (p.Asp62=)
NM_014425.5(INVS):c.1882A>T (p.Ser628Cys)
NM_014425.5(INVS):c.1884C>T (p.Ser628=)
NM_014425.5(INVS):c.1896G>A (p.Val632=) rs746617240
NM_014425.5(INVS):c.1899CAG[1] (p.Ser634del) rs886063267
NM_014425.5(INVS):c.1903A>G (p.Arg635Gly)
NM_014425.5(INVS):c.1908G>A (p.Gln636=) rs1205359268
NM_014425.5(INVS):c.1911C>T (p.Ser637=)
NM_014425.5(INVS):c.1912C>T (p.Arg638Trp)
NM_014425.5(INVS):c.1916C>A (p.Ala639Asp) rs886063268
NM_014425.5(INVS):c.1920C>G (p.Pro640=)
NM_014425.5(INVS):c.1926G>A (p.Lys642=)
NM_014425.5(INVS):c.1941C>T (p.Gly647=)
NM_014425.5(INVS):c.194A>G (p.Asp65Gly)
NM_014425.5(INVS):c.1950C>G (p.Ala650=)
NM_014425.5(INVS):c.1950C>T (p.Ala650=) rs1833373353
NM_014425.5(INVS):c.1984C>G (p.Pro662Ala)
NM_014425.5(INVS):c.1986A>G (p.Pro662=) rs1176710652
NM_014425.5(INVS):c.1990G>A (p.Gly664Arg) rs1397635177
NM_014425.5(INVS):c.1994C>G (p.Ser665Cys) rs533008444
NM_014425.5(INVS):c.1994C>T (p.Ser665Phe) rs533008444
NM_014425.5(INVS):c.1996C>T (p.Leu666=) rs772048589
NM_014425.5(INVS):c.2001C>A (p.Gly667=)
NM_014425.5(INVS):c.2002G>A (p.Gly668Arg) rs764384987
NM_014425.5(INVS):c.2002G>T (p.Gly668Ter) rs764384987
NM_014425.5(INVS):c.2008C>T (p.Leu670Phe) rs754291892
NM_014425.5(INVS):c.2010C>T (p.Leu670=)
NM_014425.5(INVS):c.2012del (p.Gln671fs)
NM_014425.5(INVS):c.2017G>A (p.Glu673Lys)
NM_014425.5(INVS):c.2027T>A (p.Val676Asp) rs967224963
NM_014425.5(INVS):c.2029T>G (p.Ser677Ala)
NM_014425.5(INVS):c.2046A>C (p.Gly682=)
NM_014425.5(INVS):c.2049A>G (p.Thr683=)
NM_014425.5(INVS):c.2049A>T (p.Thr683=)
NM_014425.5(INVS):c.2056A>T (p.Arg686Ter) rs150001738
NM_014425.5(INVS):c.2065A>C (p.Asn689His) rs1355652364
NM_014425.5(INVS):c.2068+10T>C
NM_014425.5(INVS):c.2068+11T>C
NM_014425.5(INVS):c.2068+14C>T
NM_014425.5(INVS):c.2068+19T>A
NM_014425.5(INVS):c.2068+286T>C rs2065997
NM_014425.5(INVS):c.2068+7G>A
NM_014425.5(INVS):c.2068+7G>T
NM_014425.5(INVS):c.2069-11G>A
NM_014425.5(INVS):c.2069-11G>C
NM_014425.5(INVS):c.2069-18T>C
NM_014425.5(INVS):c.2069-18_2069-16del rs577372332
NM_014425.5(INVS):c.2069-1G>T
NM_014425.5(INVS):c.2069-8del
NM_014425.5(INVS):c.2073A>G (p.Thr691=)
NM_014425.5(INVS):c.2088T>C (p.Ser696=)
NM_014425.5(INVS):c.2097_2098del (p.Gln699fs) rs1564193130
NM_014425.5(INVS):c.2098T>C (p.Ser700Pro) rs1833645195
NM_014425.5(INVS):c.2102C>G (p.Ala701Gly)
NM_014425.5(INVS):c.2107G>A (p.Val703Ile) rs1564193132
NM_014425.5(INVS):c.2116del (p.Arg706fs)
NM_014425.5(INVS):c.2119C>T (p.Pro707Ser)
NM_014425.5(INVS):c.2123A>G (p.Asn708Ser) rs770047072
NM_014425.5(INVS):c.2143A>G (p.Arg715Gly) rs766691188
NM_014425.5(INVS):c.2149C>A (p.Pro717Thr)
NM_014425.5(INVS):c.2152G>C (p.Gly718Arg) rs1554730698
NM_014425.5(INVS):c.2160C>G (p.Pro720=)
NM_014425.5(INVS):c.2173T>C (p.Ser725Pro)
NM_014425.5(INVS):c.2185A>C (p.Thr729Pro)
NM_014425.5(INVS):c.2185A>G (p.Thr729Ala)
NM_014425.5(INVS):c.2186C>G (p.Thr729Arg)
NM_014425.5(INVS):c.2193C>A (p.Gly731=) rs148758887
NM_014425.5(INVS):c.2194G>A (p.Asp732Asn) rs1351418236
NM_014425.5(INVS):c.2208A>G (p.Ala736=) rs2118761192
NM_014425.5(INVS):c.2212G>C (p.Gly738Arg)
NM_014425.5(INVS):c.2219G>T (p.Gly740Val)
NM_014425.5(INVS):c.2223C>T (p.Phe741=)
NM_014425.5(INVS):c.2225dup (p.Lys743fs)
NM_014425.5(INVS):c.2230C>T (p.Gln744Ter)
NM_014425.5(INVS):c.2232G>C (p.Gln744His) rs748241492
NM_014425.5(INVS):c.2240G>A (p.Cys747Tyr)
NM_014425.5(INVS):c.2254G>A (p.Gly752Arg)
NM_014425.5(INVS):c.2283G>A (p.Arg761=)
NM_014425.5(INVS):c.2284C>A (p.Arg762=)
NM_014425.5(INVS):c.2286G>A (p.Arg762=)
NM_014425.5(INVS):c.2299C>T (p.Leu767Phe)
NM_014425.5(INVS):c.2299dup (p.Leu767fs)
NM_014425.5(INVS):c.2306C>T (p.Pro769Leu)
NM_014425.5(INVS):c.2322G>A (p.Trp774Ter)
NM_014425.5(INVS):c.2328C>G (p.Pro776=)
NM_014425.5(INVS):c.2334G>A (p.Arg778=)
NM_014425.5(INVS):c.2334G>C (p.Arg778Ser)
NM_014425.5(INVS):c.2340T>A (p.His780Gln)
NM_014425.5(INVS):c.234C>T (p.Asp78=)
NM_014425.5(INVS):c.2350C>T (p.Pro784Ser) rs772382992
NM_014425.5(INVS):c.2351C>T (p.Pro784Leu) rs1401794025
NM_014425.5(INVS):c.2361A>G (p.Lys787=)
NM_014425.5(INVS):c.2364T>C (p.Cys788=)
NM_014425.5(INVS):c.2367C>A (p.Ala789=)
NM_014425.5(INVS):c.2371C>T (p.Gln791Ter)
NM_014425.5(INVS):c.2372dup (p.Lys792fs) rs2118762244
NM_014425.5(INVS):c.2385T>A (p.Thr795=)
NM_014425.5(INVS):c.239G>A (p.Ser80Asn) rs1231356870
NM_014425.5(INVS):c.2412T>G (p.Ser804=) rs2787374
NM_014425.5(INVS):c.2414C>T (p.Pro805Leu) rs750979976
NM_014425.5(INVS):c.2415G>A (p.Pro805=) rs192492227
NM_014425.5(INVS):c.2415G>T (p.Pro805=)
NM_014425.5(INVS):c.2424T>C (p.Ser808=)
NM_014425.5(INVS):c.2436C>T (p.Gly812=)
NM_014425.5(INVS):c.2441C>T (p.Ala814Val) rs886063269
NM_014425.5(INVS):c.2445G>A (p.Arg815=)
NM_014425.5(INVS):c.2447G>T (p.Gly816Val)
NM_014425.5(INVS):c.2449dup (p.Glu817fs)
NM_014425.5(INVS):c.2457C>A (p.Val819=)
NM_014425.5(INVS):c.245del (p.Arg82fs)
NM_014425.5(INVS):c.2460T>C (p.His820=)
NM_014425.5(INVS):c.2463T>C (p.Ala821=)
NM_014425.5(INVS):c.2466G>C (p.Gly822=)
NM_014425.5(INVS):c.2489C>T (p.Thr830Ile) rs886063270
NM_014425.5(INVS):c.2501_2502del (p.Lys834fs) rs777723411
NM_014425.5(INVS):c.2509C>T (p.Gln837Ter) rs755549444
NM_014425.5(INVS):c.2520C>T (p.Leu840=) rs1833665397
NM_014425.5(INVS):c.2522C>G (p.Thr841Arg) rs1833665476
NM_014425.5(INVS):c.2523A>G (p.Thr841=)
NM_014425.5(INVS):c.2530C>T (p.Leu844Phe) rs2118763419
NM_014425.5(INVS):c.2532C>T (p.Leu844=)
NM_014425.5(INVS):c.2540A>G (p.His847Arg)
NM_014425.5(INVS):c.2543T>C (p.Leu848Ser) rs2118763519
NM_014425.5(INVS):c.2544G>A (p.Leu848=)
NM_014425.5(INVS):c.2557GAG[1] (p.Glu854del)
NM_014425.5(INVS):c.2563T>C (p.Leu855=)
NM_014425.5(INVS):c.2565G>A (p.Leu855=)
NM_014425.5(INVS):c.2568G>A (p.Arg856=) rs886038604
NM_014425.5(INVS):c.256C>G (p.His86Asp)
NM_014425.5(INVS):c.2576C>G (p.Ala859Gly)
NM_014425.5(INVS):c.2576C>T (p.Ala859Val) rs1554730793
NM_014425.5(INVS):c.2577T>G (p.Ala859=) rs2118763681
NM_014425.5(INVS):c.2582G>C (p.Arg861Thr) rs760537423
NM_014425.5(INVS):c.2584C>T (p.Leu862=)
NM_014425.5(INVS):c.2592A>G (p.Thr864=)
NM_014425.5(INVS):c.2595T>G (p.Ser865=)
NM_014425.5(INVS):c.2604C>G (p.Ser868=)
NM_014425.5(INVS):c.2605G>A (p.Glu869Lys)
NM_014425.5(INVS):c.2607G>A (p.Glu869=)
NM_014425.5(INVS):c.2610C>G (p.Asp870Glu)
NM_014425.5(INVS):c.2613T>C (p.Phe871=)
NM_014425.5(INVS):c.2614C>T (p.Gln872Ter)
NM_014425.5(INVS):c.2618dup (p.Ser874fs)
NM_014425.5(INVS):c.2619A>G (p.Val873=)
NM_014425.5(INVS):c.2620T>C (p.Ser874Pro) rs1564193747
NM_014425.5(INVS):c.2622dup (p.Lys875Ter)
NM_014425.5(INVS):c.2625G>A (p.Lys875=)
NM_014425.5(INVS):c.2630C>T (p.Thr877Ile) rs1411773135
NM_014425.5(INVS):c.2647C>A (p.Pro883Thr) rs1833670830
NM_014425.5(INVS):c.2652C>A (p.Leu884=)
NM_014425.5(INVS):c.2652C>G (p.Leu884=)
NM_014425.5(INVS):c.2658G>A (p.Gly886=)
NM_014425.5(INVS):c.2659C>T (p.Gln887Ter)
NM_014425.5(INVS):c.2665G>A (p.Val889Met) rs771857927
NM_014425.5(INVS):c.266C>T (p.Ala89Val) rs1341471827
NM_014425.5(INVS):c.2676C>T (p.Asp892=)
NM_014425.5(INVS):c.2679_2681del (p.Leu894del) rs1833672293
NM_014425.5(INVS):c.2686G>A (p.Val896Ile) rs114847355
NM_014425.5(INVS):c.2686G>C (p.Val896Leu) rs114847355
NM_014425.5(INVS):c.2695C>A (p.Arg899=) rs200844390
NM_014425.5(INVS):c.269A>G (p.Gln90Arg) rs1827890162
NM_014425.5(INVS):c.2700G>A (p.Leu900=) rs768063927
NM_014425.5(INVS):c.2716_2717del (p.Glu906fs)
NM_014425.5(INVS):c.2719C>A (p.Arg907=) rs267607185
NM_014425.5(INVS):c.2719C>T (p.Arg907Ter) rs267607185
NM_014425.5(INVS):c.2720G>T (p.Arg907Leu) rs781064013
NM_014425.5(INVS):c.2722A>G (p.Arg908Gly) rs1430951841
NM_014425.5(INVS):c.2727G>A (p.Arg909=)
NM_014425.5(INVS):c.2729del (p.Lys910fs) rs757019335
NM_014425.5(INVS):c.273+13del
NM_014425.5(INVS):c.273+15T>A
NM_014425.5(INVS):c.273+16T>C
NM_014425.5(INVS):c.273+1G>A
NM_014425.5(INVS):c.273+3G>A rs2118895764
NM_014425.5(INVS):c.273+5G>A rs1195767279
NM_014425.5(INVS):c.2730G>A (p.Lys910=)
NM_014425.5(INVS):c.274-13_274-9del
NM_014425.5(INVS):c.274-14T>C
NM_014425.5(INVS):c.274-153_274-152insTCTCA rs60607451
NM_014425.5(INVS):c.274-15T>A
NM_014425.5(INVS):c.274-16_274-15del
NM_014425.5(INVS):c.274-20_274-16del
NM_014425.5(INVS):c.274-2A>G
NM_014425.5(INVS):c.274-304del rs529005124
NM_014425.5(INVS):c.2750A>G (p.Asn917Ser)
NM_014425.5(INVS):c.2752A>G (p.Lys918Glu)
NM_014425.5(INVS):c.2757A>G (p.Ala919=)
NM_014425.5(INVS):c.2769C>A (p.Ile923=) rs2118765013
NM_014425.5(INVS):c.276A>C (p.Gly92=) rs1554724084
NM_014425.5(INVS):c.2772G>T (p.Gln924His)
NM_014425.5(INVS):c.2778C>A (p.Ala926=)
NM_014425.5(INVS):c.2779T>A (p.Trp927Arg)
NM_014425.5(INVS):c.2782C>A (p.Arg928=) rs376879175
NM_014425.5(INVS):c.2784A>C (p.Arg928=)
NM_014425.5(INVS):c.2786+10T>C
NM_014425.5(INVS):c.2786+14G>A
NM_014425.5(INVS):c.2786+14del
NM_014425.5(INVS):c.2786+2T>C rs1322951938
NM_014425.5(INVS):c.2787-17_2787-16del rs1317434637
NM_014425.5(INVS):c.2787-4C>A
NM_014425.5(INVS):c.2787-4C>T
NM_014425.5(INVS):c.2787-8C>T
NM_014425.5(INVS):c.2794C>T (p.Leu932Phe) rs2118781536
NM_014425.5(INVS):c.2799G>A (p.Arg933=)
NM_014425.5(INVS):c.2801del (p.Lys934fs) rs2118781593
NM_014425.5(INVS):c.2802G>A (p.Lys934=)
NM_014425.5(INVS):c.2805C>A (p.His935Gln) rs1265354401
NM_014425.5(INVS):c.2808G>T (p.Leu936=) rs2118781641
NM_014425.5(INVS):c.2818C>G (p.Arg940Gly)
NM_014425.5(INVS):c.2818C>T (p.Arg940Trp)
NM_014425.5(INVS):c.2822A>C (p.His941Pro) rs886042226
NM_014425.5(INVS):c.2822A>G (p.His941Arg) rs886042226
NM_014425.5(INVS):c.2822A>T (p.His941Leu) rs886042226
NM_014425.5(INVS):c.2829G>A (p.Lys943=)
NM_014425.5(INVS):c.282T>C (p.Tyr94=)
NM_014425.5(INVS):c.2832G>A (p.Gln944=)
NM_014425.5(INVS):c.2834T>A (p.Leu945His) rs757927270
NM_014425.5(INVS):c.2834T>C (p.Leu945Pro) rs757927270
NM_014425.5(INVS):c.2841T>G (p.Ala947=)
NM_014425.5(INVS):c.2843G>A (p.Gly948Glu) rs1564195393
NM_014425.5(INVS):c.2844A>G (p.Gly948=)
NM_014425.5(INVS):c.2844_2848del (p.Asp949fs)
NM_014425.5(INVS):c.2858G>A (p.Trp953Ter) rs1564195414
NM_014425.5(INVS):c.2861G>A (p.Arg954Lys) rs2118781948
NM_014425.5(INVS):c.2866G>A (p.Glu956Lys)
NM_014425.5(INVS):c.2868G>A (p.Glu956=)
NM_014425.5(INVS):c.2874A>G (p.Thr958=) rs886063271
NM_014425.5(INVS):c.2877A>G (p.Ala959=)
NM_014425.5(INVS):c.2887C>T (p.Gln963Ter) rs1425211517
NM_014425.5(INVS):c.2894G>A (p.Trp965Ter)
NM_014425.5(INVS):c.2898G>A (p.Arg966=)
NM_014425.5(INVS):c.2903A>C (p.Glu968Ala) rs1366429329
NM_014425.5(INVS):c.2905C>G (p.Leu969Val) rs1833811478
NM_014425.5(INVS):c.2933C>T (p.Ala978Val) rs794727147
NM_014425.5(INVS):c.2935G>A (p.Val979Ile)
NM_014425.5(INVS):c.2941A>G (p.Lys981Glu) rs1833812606
NM_014425.5(INVS):c.2947C>G (p.Pro983Ala) rs2118782522
NM_014425.5(INVS):c.2949C>G (p.Pro983=)
NM_014425.5(INVS):c.2949C>T (p.Pro983=)
NM_014425.5(INVS):c.2949dup (p.Lys984fs) rs1588153872
NM_014425.5(INVS):c.2958A>C (p.Pro986=)
NM_014425.5(INVS):c.2967C>T (p.Gly989=)
NM_014425.5(INVS):c.2972C>G (p.Ser991Ter) rs1329661241
NM_014425.5(INVS):c.2979A>G (p.Thr993=)
NM_014425.5(INVS):c.297C>G (p.Leu99=)
NM_014425.5(INVS):c.2984C>A (p.Ser995Tyr)
NM_014425.5(INVS):c.2985C>T (p.Ser995=)
NM_014425.5(INVS):c.2986A>G (p.Thr996Ala)
NM_014425.5(INVS):c.2995T>C (p.Ser999Pro) rs1833814101
NM_014425.5(INVS):c.2996C>G (p.Ser999Ter)
NM_014425.5(INVS):c.3000G>A (p.Val1000=)
NM_014425.5(INVS):c.3016+15G>A rs1270671278
NM_014425.5(INVS):c.3017-11del
NM_014425.5(INVS):c.3017-17T>G
NM_014425.5(INVS):c.3017-20_3017-19del rs2118786046
NM_014425.5(INVS):c.3017GTT[1] (p.Cys1007del)
NM_014425.5(INVS):c.3024T>C (p.Ser1008=)
NM_014425.5(INVS):c.302_305del (p.Leu101fs)
NM_014425.5(INVS):c.3033G>C (p.Gly1011=)
NM_014425.5(INVS):c.3038T>G (p.Ile1013Arg) rs1833838349
NM_014425.5(INVS):c.3044A>T (p.His1015Leu) rs2118786271
NM_014425.5(INVS):c.3051A>G (p.Thr1017=) rs1381275842
NM_014425.5(INVS):c.3052A>C (p.Arg1018=)
NM_014425.5(INVS):c.3056C>G (p.Ser1019Cys) rs886063272
NM_014425.5(INVS):c.3062_3063del (p.Lys1021fs)
NM_014425.5(INVS):c.3085A>G (p.Asn1029Asp)
NM_014425.5(INVS):c.3091+10C>G
NM_014425.5(INVS):c.3091+7C>T
NM_014425.5(INVS):c.3092-11_3092-6del rs1245384768
NM_014425.5(INVS):c.3092-11del
NM_014425.5(INVS):c.3092-17del
NM_014425.5(INVS):c.3092-19T>G
NM_014425.5(INVS):c.3092-6del rs886044279
NM_014425.5(INVS):c.3092-7T>C rs1588156673
NM_014425.5(INVS):c.309C>T (p.Arg103=)
NM_014425.5(INVS):c.3102A>G (p.Leu1034=) rs768286522
NM_014425.5(INVS):c.3104del (p.Gln1035fs) rs2118799345
NM_014425.5(INVS):c.3117_3119del (p.Leu1040del) rs1273204300
NM_014425.5(INVS):c.3125del (p.Asn1042fs) rs878855333
NM_014425.5(INVS):c.3128G>A (p.Ser1043Asn)
NM_014425.5(INVS):c.3129T>C (p.Ser1043=)
NM_014425.5(INVS):c.3137_3138insTTC (p.Ser1046dup) rs778453251
NM_014425.5(INVS):c.3138A>C (p.Ser1046=) rs889561540
NM_014425.5(INVS):c.3138A>G (p.Ser1046=)
NM_014425.5(INVS):c.3159G>A (p.Leu1053=)
NM_014425.5(INVS):c.3182A>C (p.Asn1061Thr)
NM_014425.5(INVS):c.3182dup (p.Asn1061fs) rs760013326
NM_014425.5(INVS):c.3185A>G (p.Lys1062Arg) rs758703044
NM_014425.5(INVS):c.3189A>C (p.Thr1063=)
NM_014425.5(INVS):c.3189_3193dup (p.Pro1065fs)
NM_014425.5(INVS):c.3193C>G (p.Pro1065Ala)
NM_014425.5(INVS):c.319T>C (p.Trp107Arg)
NM_014425.5(INVS):c.321G>A (p.Trp107Ter)
NM_014425.5(INVS):c.325C>T (p.Gln109Ter)
NM_014425.5(INVS):c.330G>A (p.Lys110=)
NM_014425.5(INVS):c.336G>A (p.Leu112=) rs1564165829
NM_014425.5(INVS):c.337del (p.Glu113fs)
NM_014425.5(INVS):c.342G>C (p.Glu114Asp)
NM_014425.5(INVS):c.342_343del (p.Glu114fs)
NM_014425.5(INVS):c.349C>T (p.Pro117Ser) rs1021818693
NM_014425.5(INVS):c.357C>T (p.His119=) rs138668044
NM_014425.5(INVS):c.360G>A (p.Leu120=)
NM_014425.5(INVS):c.360G>T (p.Leu120Phe)
NM_014425.5(INVS):c.363C>T (p.Thr121=) rs1588103260
NM_014425.5(INVS):c.366C>T (p.Thr122=)
NM_014425.5(INVS):c.367C>A (p.Arg123=)
NM_014425.5(INVS):c.371A>G (p.His124Arg) rs1251662430
NM_014425.5(INVS):c.372C>T (p.His124=) rs1588103280
NM_014425.5(INVS):c.39A>G (p.Ser13=)
NM_014425.5(INVS):c.400C>T (p.Leu134=)
NM_014425.5(INVS):c.402G>A (p.Leu134=)
NM_014425.5(INVS):c.406T>A (p.Phe136Ile) rs1831314008
NM_014425.5(INVS):c.410T>C (p.Met137Thr) rs375209595
NM_014425.5(INVS):c.431C>T (p.Thr144Ile)
NM_014425.5(INVS):c.447+13C>G
NM_014425.5(INVS):c.447+18T>C
NM_014425.5(INVS):c.447+4A>C
NM_014425.5(INVS):c.447+8A>C rs2118405041
NM_014425.5(INVS):c.447+9T>C
NM_014425.5(INVS):c.448-10G>A
NM_014425.5(INVS):c.448-11C>T
NM_014425.5(INVS):c.448-19G>T rs760646531
NM_014425.5(INVS):c.448-2A>G
NM_014425.5(INVS):c.459G>A (p.Leu153=)
NM_014425.5(INVS):c.461A>G (p.His154Arg) rs1386694263
NM_014425.5(INVS):c.462T>C (p.His154=)
NM_014425.5(INVS):c.469G>A (p.Ala157Thr) rs1831445347
NM_014425.5(INVS):c.476A>G (p.Tyr159Cys) rs2118428051
NM_014425.5(INVS):c.477C>T (p.Tyr159=)
NM_014425.5(INVS):c.484C>G (p.Pro162Ala) rs1564167356
NM_014425.5(INVS):c.486T>C (p.Pro162=)
NM_014425.5(INVS):c.487G>C (p.Glu163Gln) rs1831445837
NM_014425.5(INVS):c.48A>T (p.Ser16=)
NM_014425.5(INVS):c.491A>G (p.His164Arg) rs1831445914
NM_014425.5(INVS):c.497_512dup (p.His171fs) rs779545419
NM_014425.5(INVS):c.497del (p.Lys166fs)
NM_014425.5(INVS):c.504C>T (p.Leu168=)
NM_014425.5(INVS):c.512A>G (p.His171Arg)
NM_014425.5(INVS):c.513T>C (p.His171=)
NM_014425.5(INVS):c.522C>T (p.Asn174=) rs2118428478
NM_014425.5(INVS):c.525T>A (p.Ile175=)
NM_014425.5(INVS):c.536A>T (p.Asp179Val)
NM_014425.5(INVS):c.546C>G (p.Gly182=) rs1289228389
NM_014425.5(INVS):c.564G>A (p.Trp188Ter) rs1564167474
NM_014425.5(INVS):c.582T>A (p.Asp194Glu) rs2118429045
NM_014425.5(INVS):c.597C>T (p.His199=) rs2118429203
NM_014425.5(INVS):c.615+10A>G
NM_014425.5(INVS):c.615+12G>C
NM_014425.5(INVS):c.615+13G>T rs761240492
NM_014425.5(INVS):c.615+16C>A
NM_014425.5(INVS):c.615+1G>A rs955421639
NM_014425.5(INVS):c.615G>C (p.Leu205=) rs140664868
NM_014425.5(INVS):c.616-11C>T
NM_014425.5(INVS):c.616-15G>A rs2118493033
NM_014425.5(INVS):c.621T>C (p.Ala207=)
NM_014425.5(INVS):c.630dup (p.Glu211fs)
NM_014425.5(INVS):c.640C>T (p.Leu214=) rs2118493268
NM_014425.5(INVS):c.645C>G (p.Asn215Lys)
NM_014425.5(INVS):c.648G>A (p.Trp216Ter)
NM_014425.5(INVS):c.662dup (p.Arg222fs) rs769739938
NM_014425.5(INVS):c.663T>G (p.Gly221=)
NM_014425.5(INVS):c.664C>T (p.Arg222Ter)
NM_014425.5(INVS):c.66C>A (p.Ala22=)
NM_014425.5(INVS):c.671C>G (p.Pro224Arg)
NM_014425.5(INVS):c.673_674del (p.Leu225fs) rs1205325321
NM_014425.5(INVS):c.67G>C (p.Val23Leu) rs145303373
NM_014425.5(INVS):c.6C>A (p.Asn2Lys) rs1827109471
NM_014425.5(INVS):c.707T>C (p.Val236Ala)
NM_014425.5(INVS):c.708G>T (p.Val236=)
NM_014425.5(INVS):c.711T>C (p.Val237=)
NM_014425.5(INVS):c.717C>T (p.Val239=) rs2118493849
NM_014425.5(INVS):c.722C>T (p.Thr241Ile) rs1248564172
NM_014425.5(INVS):c.723C>T (p.Thr241=)
NM_014425.5(INVS):c.753T>G (p.Tyr251Ter) rs2118494165
NM_014425.5(INVS):c.756T>C (p.Asp252=)
NM_014425.5(INVS):c.766C>T (p.Arg256Ter)
NM_014425.5(INVS):c.772C>T (p.Pro258Ser) rs866679782
NM_014425.5(INVS):c.773C>G (p.Pro258Arg)
NM_014425.5(INVS):c.775C>T (p.Leu259=) rs886063264
NM_014425.5(INVS):c.777G>T (p.Leu259=)
NM_014425.5(INVS):c.778C>T (p.His260Tyr)
NM_014425.5(INVS):c.779A>C (p.His260Pro) rs747189159
NM_014425.5(INVS):c.786dup (p.Ala263fs) rs1564172023
NM_014425.5(INVS):c.796+11C>T
NM_014425.5(INVS):c.796+15G>A
NM_014425.5(INVS):c.796+17A>C
NM_014425.5(INVS):c.796+19C>T
NM_014425.5(INVS):c.796+20A>G
NM_014425.5(INVS):c.796+8A>G
NM_014425.5(INVS):c.797-14G>A
NM_014425.5(INVS):c.797-4T>C
NM_014425.5(INVS):c.797-5C>G
NM_014425.5(INVS):c.797-6T>C
NM_014425.5(INVS):c.797-9T>A
NM_014425.5(INVS):c.798C>A (p.Gly266=)
NM_014425.5(INVS):c.805_806del (p.Gln269fs)
NM_014425.5(INVS):c.809T>C (p.Ile270Thr) rs1564172870
NM_014425.5(INVS):c.822T>G (p.Leu274=)
NM_014425.5(INVS):c.830G>A (p.Arg277Lys) rs1230011174
NM_014425.5(INVS):c.832A>G (p.Asn278Asp)
NM_014425.5(INVS):c.832A>T (p.Asn278Tyr)
NM_014425.5(INVS):c.833del (p.Asn278fs)
NM_014425.5(INVS):c.83del (p.Gly28fs) rs763565647
NM_014425.5(INVS):c.849C>T (p.Ile283=) rs886038605
NM_014425.5(INVS):c.864A>G (p.Gln288=)
NM_014425.5(INVS):c.875C>T (p.Pro292Leu) rs1831916010
NM_014425.5(INVS):c.882C>T (p.His294=)
NM_014425.5(INVS):c.885T>C (p.Tyr295=)
NM_014425.5(INVS):c.88C>T (p.Leu30=)
NM_014425.5(INVS):c.906+14G>A
NM_014425.5(INVS):c.906+14del
NM_014425.5(INVS):c.906+16C>T
NM_014425.5(INVS):c.906+18A>G
NM_014425.5(INVS):c.906+1G>A
NM_014425.5(INVS):c.906+20G>C
NM_014425.5(INVS):c.907-11T>C
NM_014425.5(INVS):c.907-13dup rs750082874
NM_014425.5(INVS):c.907-19A>T
NM_014425.5(INVS):c.907-1G>A
NM_014425.5(INVS):c.907-3C>T
NM_014425.5(INVS):c.90A>G (p.Leu30=)
NM_014425.5(INVS):c.911C>T (p.Thr304Met)
NM_014425.5(INVS):c.912G>T (p.Thr304=) rs141109039
NM_014425.5(INVS):c.914T>G (p.Val305Gly)
NM_014425.5(INVS):c.915T>A (p.Val305=)
NM_014425.5(INVS):c.916A>G (p.Lys306Glu) rs878854981
NM_014425.5(INVS):c.92A>G (p.Gln31Arg) rs1003287751
NM_014425.5(INVS):c.954A>C (p.Ser318=)
NM_014425.5(INVS):c.954A>G (p.Ser318=) rs778265507
NM_014425.5(INVS):c.958C>T (p.Leu320=)
NM_014425.5(INVS):c.96G>A (p.Arg32=) rs1588000254
NM_014425.5(INVS):c.983G>A (p.Trp328Ter)
NM_014425.5(INVS):c.985G>T (p.Ala329Ser) rs1212648125
NM_014425.5(INVS):c.986C>A (p.Ala329Glu) rs1202806202
NM_014425.5(INVS):c.990T>G (p.Ala330=)
NM_014425.5(INVS):c.99C>G (p.Leu33=)
NM_014425.5(INVS):c.[796+5G>A;805_806del]

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