ClinVar Miner

List of variants reported as likely benign for Cone-rod dystrophy 6; Leber congenital amaurosis 1 by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 642
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000180.4(GUCY2D):c.74C>T (p.Ser25Phe) rs557108466 0.00228
NM_000180.4(GUCY2D):c.369C>T (p.Gly123=) rs529594203 0.00117
NM_000180.4(GUCY2D):c.2164C>T (p.Arg722Trp) rs34331388 0.00111
NM_000180.4(GUCY2D):c.3098C>T (p.Ser1033Leu) rs146149224 0.00106
NM_000180.4(GUCY2D):c.306C>G (p.Pro102=) rs540877830 0.00103
NM_000180.4(GUCY2D):c.1093C>T (p.Arg365Trp) rs138836357 0.00069
NM_000180.4(GUCY2D):c.1537C>T (p.Leu513Phe) rs61749682 0.00055
NM_000180.4(GUCY2D):c.730A>C (p.Met244Leu) rs141956583 0.00049
NM_000180.4(GUCY2D):c.2181C>A (p.Gly727=) rs140628227 0.00032
NM_000180.4(GUCY2D):c.337G>A (p.Ala113Thr) rs1445892049 0.00032
NM_000180.4(GUCY2D):c.921C>T (p.Ala307=) rs148136213 0.00030
NM_000180.4(GUCY2D):c.2769+15G>A rs377279983 0.00029
NM_000180.4(GUCY2D):c.2676C>T (p.Ile892=) rs140661218 0.00027
NM_000180.4(GUCY2D):c.343T>C (p.Ser115Pro) rs562248093 0.00026
NM_000180.4(GUCY2D):c.1938C>T (p.Leu646=) rs201196538 0.00025
NM_000180.4(GUCY2D):c.488C>T (p.Pro163Leu) rs200586401 0.00018
NM_000180.4(GUCY2D):c.1584A>G (p.Arg528=) rs144659131 0.00016
NM_000180.4(GUCY2D):c.1776G>C (p.Val592=) rs376508683 0.00013
NM_000180.4(GUCY2D):c.2616G>A (p.Glu872=) rs369035095 0.00012
NM_000180.4(GUCY2D):c.1432C>T (p.Leu478=) rs138298187 0.00011
NM_000180.4(GUCY2D):c.2945-20G>A rs376439753 0.00011
NM_000180.4(GUCY2D):c.1138C>T (p.Arg380Cys) rs775105018 0.00009
NM_000180.4(GUCY2D):c.1624G>A (p.Gly542Ser) rs146570135 0.00009
NM_000180.4(GUCY2D):c.2184C>T (p.Asp728=) rs150422660 0.00009
NM_000180.4(GUCY2D):c.3129G>A (p.Thr1043=) rs200403362 0.00009
NM_000180.4(GUCY2D):c.2763C>A (p.Val921=) rs776152947 0.00008
NM_000180.4(GUCY2D):c.3043+12G>A rs369315814 0.00008
NM_000180.4(GUCY2D):c.1379-8C>T rs757158931 0.00007
NM_000180.4(GUCY2D):c.1556C>T (p.Thr519Ile) rs549834851 0.00007
NM_000180.4(GUCY2D):c.1315G>A (p.Gly439Arg) rs140638938 0.00006
NM_000180.4(GUCY2D):c.2031A>G (p.Arg677=) rs200700723 0.00006
NM_000180.4(GUCY2D):c.2061C>T (p.His687=) rs140366544 0.00006
NM_000180.4(GUCY2D):c.2178C>T (p.Ala726=) rs377648185 0.00006
NM_000180.4(GUCY2D):c.219G>A (p.Pro73=) rs1324115702 0.00006
NM_000180.4(GUCY2D):c.2263+17C>T rs377349549 0.00006
NM_000180.4(GUCY2D):c.2331T>C (p.Pro777=) rs147201985 0.00006
NM_000180.4(GUCY2D):c.912C>A (p.Ala304=) rs534270598 0.00006
NM_000180.4(GUCY2D):c.1134G>A (p.Val378=) rs577806343 0.00005
NM_000180.4(GUCY2D):c.1160T>A (p.Val387Asp) rs755223158 0.00005
NM_000180.4(GUCY2D):c.1278C>T (p.Ser426=) rs746671374 0.00005
NM_000180.4(GUCY2D):c.1750-15C>T rs374969713 0.00005
NM_000180.4(GUCY2D):c.1869G>A (p.Thr623=) rs150797198 0.00005
NM_000180.4(GUCY2D):c.1956+15G>A rs367711120 0.00005
NM_000180.4(GUCY2D):c.2334C>T (p.Val778=) rs371541944 0.00005
NM_000180.4(GUCY2D):c.1227G>A (p.Ala409=) rs148448937 0.00004
NM_000180.4(GUCY2D):c.1463+20A>G rs371533971 0.00004
NM_000180.4(GUCY2D):c.1524C>T (p.Asp508=) rs200651999 0.00004
NM_000180.4(GUCY2D):c.1536T>C (p.Phe512=) rs376601845 0.00004
NM_000180.4(GUCY2D):c.1773C>T (p.Asn591=) rs758841128 0.00004
NM_000180.4(GUCY2D):c.1983C>T (p.Gly661=) rs756393266 0.00004
NM_000180.4(GUCY2D):c.2271G>A (p.Val757=) rs143607596 0.00004
NM_000180.4(GUCY2D):c.3195C>G (p.Pro1065=) rs765119055 0.00004
NM_000180.4(GUCY2D):c.3282G>A (p.Leu1094=) rs281865413 0.00004
NM_000180.4(GUCY2D):c.885C>T (p.Leu295=) rs746924059 0.00004
NM_000180.4(GUCY2D):c.1180C>T (p.Leu394=) rs1207668008 0.00003
NM_000180.4(GUCY2D):c.1463+17G>A rs756787049 0.00003
NM_000180.4(GUCY2D):c.1494C>T (p.Ser498=) rs369663256 0.00003
NM_000180.4(GUCY2D):c.1750-12dup rs970707871 0.00003
NM_000180.4(GUCY2D):c.1824G>A (p.Ala608=) rs765774591 0.00003
NM_000180.4(GUCY2D):c.24G>T (p.Ala8=) rs987666168 0.00003
NM_000180.4(GUCY2D):c.2784G>C (p.Gly928=) rs763444638 0.00003
NM_000180.4(GUCY2D):c.3006G>A (p.Thr1002=) rs764749298 0.00003
NM_000180.4(GUCY2D):c.3051C>G (p.Arg1017=) rs143761257 0.00003
NM_000180.4(GUCY2D):c.3102C>T (p.Gly1034=) rs749621660 0.00003
NM_000180.4(GUCY2D):c.42C>T (p.Pro14=) rs1442219873 0.00003
NM_000180.4(GUCY2D):c.438G>A (p.Ala146=) rs765243245 0.00003
NM_000180.4(GUCY2D):c.483G>A (p.Thr161=) rs762618243 0.00003
NM_000180.4(GUCY2D):c.510T>C (p.Asp170=) rs753886745 0.00003
NM_000180.4(GUCY2D):c.525G>A (p.Leu175=) rs570251619 0.00003
NM_000180.4(GUCY2D):c.69T>A (p.Ala23=) rs937378694 0.00003
NM_000180.4(GUCY2D):c.726G>A (p.Val242=) rs886038268 0.00003
NM_000180.4(GUCY2D):c.751C>T (p.Leu251=) rs753468278 0.00003
NM_000180.4(GUCY2D):c.1101C>T (p.Ala367=) rs374658427 0.00002
NM_000180.4(GUCY2D):c.1230G>A (p.Ala410=) rs542570988 0.00002
NM_000180.4(GUCY2D):c.1518C>T (p.Thr506=) rs779132852 0.00002
NM_000180.4(GUCY2D):c.1668+17C>T rs755056200 0.00002
NM_000180.4(GUCY2D):c.1669-17C>T rs570329813 0.00002
NM_000180.4(GUCY2D):c.1669-18C>G rs1413482493 0.00002
NM_000180.4(GUCY2D):c.180C>T (p.Gly60=) rs753766842 0.00002
NM_000180.4(GUCY2D):c.1836G>A (p.Glu612=) rs1287364718 0.00002
NM_000180.4(GUCY2D):c.1957-17A>G rs931385450 0.00002
NM_000180.4(GUCY2D):c.2034C>T (p.Phe678=) rs776298636 0.00002
NM_000180.4(GUCY2D):c.2094G>A (p.Pro698=) rs747807494 0.00002
NM_000180.4(GUCY2D):c.2113+9C>G rs201717870 0.00002
NM_000180.4(GUCY2D):c.2172G>A (p.Thr724=) rs760472338 0.00002
NM_000180.4(GUCY2D):c.2250G>A (p.Glu750=) rs149560134 0.00002
NM_000180.4(GUCY2D):c.2259C>T (p.Pro753=) rs1240523035 0.00002
NM_000180.4(GUCY2D):c.2263+18G>A rs547968529 0.00002
NM_000180.4(GUCY2D):c.2457G>C (p.Ser819=) rs149866657 0.00002
NM_000180.4(GUCY2D):c.2601G>C (p.Thr867=) rs760202269 0.00002
NM_000180.4(GUCY2D):c.2664C>T (p.Gly888=) rs764336613 0.00002
NM_000180.4(GUCY2D):c.2718C>T (p.Asn906=) rs1299729703 0.00002
NM_000180.4(GUCY2D):c.2770-7C>T rs745761477 0.00002
NM_000180.4(GUCY2D):c.2802C>T (p.Ala934=) rs1346164552 0.00002
NM_000180.4(GUCY2D):c.3012C>T (p.Asn1004=) rs563005151 0.00002
NM_000180.4(GUCY2D):c.3138+17A>G rs761543634 0.00002
NM_000180.4(GUCY2D):c.3150C>T (p.Ala1050=) rs775007490 0.00002
NM_000180.4(GUCY2D):c.3224+10C>T rs778736663 0.00002
NM_000180.4(GUCY2D):c.3225-12C>G rs999074662 0.00002
NM_000180.4(GUCY2D):c.3273A>G (p.Arg1091=) rs375105072 0.00002
NM_000180.4(GUCY2D):c.507G>T (p.Ala169=) rs551713029 0.00002
NM_000180.4(GUCY2D):c.573G>A (p.Gln191=) rs747611318 0.00002
NM_000180.4(GUCY2D):c.57C>G (p.Pro19=) rs1296984909 0.00002
NM_000180.4(GUCY2D):c.609G>A (p.Thr203=) rs546417010 0.00002
NM_000180.4(GUCY2D):c.711C>A (p.Pro237=) rs750484873 0.00002
NM_000180.4(GUCY2D):c.807C>T (p.Thr269=) rs773415492 0.00002
NM_000180.4(GUCY2D):c.813C>T (p.Gly271=) rs1205298158 0.00002
NM_000180.4(GUCY2D):c.964C>T (p.Leu322=) rs563208176 0.00002
NM_000180.4(GUCY2D):c.999G>A (p.Glu333=) rs779241028 0.00002
NM_000180.4(GUCY2D):c.1000C>T (p.Leu334=) rs978857243 0.00001
NM_000180.4(GUCY2D):c.1026+12C>T rs1229432106 0.00001
NM_000180.4(GUCY2D):c.1026+15G>A rs556242786 0.00001
NM_000180.4(GUCY2D):c.102C>T (p.Pro34=) rs1262337868 0.00001
NM_000180.4(GUCY2D):c.1044C>T (p.Gly348=) rs748665297 0.00001
NM_000180.4(GUCY2D):c.1056C>T (p.Asp352=) rs763350634 0.00001
NM_000180.4(GUCY2D):c.111G>A (p.Pro37=) rs1157641159 0.00001
NM_000180.4(GUCY2D):c.1146C>T (p.Ile382=) rs776042543 0.00001
NM_000180.4(GUCY2D):c.1149G>C (p.Arg383=) rs1975741252 0.00001
NM_000180.4(GUCY2D):c.1224C>T (p.Asp408=) rs201054971 0.00001
NM_000180.4(GUCY2D):c.126G>T (p.Leu42=) rs1323200790 0.00001
NM_000180.4(GUCY2D):c.1287C>T (p.Ser429=) rs532466020 0.00001
NM_000180.4(GUCY2D):c.129T>C (p.Leu43=) rs1975662596 0.00001
NM_000180.4(GUCY2D):c.1312C>T (p.Arg438Cys) rs565948960 0.00001
NM_000180.4(GUCY2D):c.1317G>A (p.Gly439=) rs56056557 0.00001
NM_000180.4(GUCY2D):c.1323A>T (p.Ser441=) rs780550917 0.00001
NM_000180.4(GUCY2D):c.1329C>T (p.Pro443=) rs1292562609 0.00001
NM_000180.4(GUCY2D):c.1344G>A (p.Ser448=) rs1256989662 0.00001
NM_000180.4(GUCY2D):c.1347C>T (p.Cys449=) rs1246455684 0.00001
NM_000180.4(GUCY2D):c.1359A>G (p.Pro453=) rs749240455 0.00001
NM_000180.4(GUCY2D):c.1368C>T (p.Ile456=) rs1288235406 0.00001
NM_000180.4(GUCY2D):c.1378+12C>T rs759370090 0.00001
NM_000180.4(GUCY2D):c.1378+16C>G rs963135195 0.00001
NM_000180.4(GUCY2D):c.1378+19G>C rs1567958546 0.00001
NM_000180.4(GUCY2D):c.1378+20del rs1311411801 0.00001
NM_000180.4(GUCY2D):c.1379-16G>T rs553866555 0.00001
NM_000180.4(GUCY2D):c.1379-19C>T rs538719629 0.00001
NM_000180.4(GUCY2D):c.1379-5T>C rs778875311 0.00001
NM_000180.4(GUCY2D):c.1389G>A (p.Pro463=) rs1482765004 0.00001
NM_000180.4(GUCY2D):c.1395C>T (p.Leu465=) rs745618018 0.00001
NM_000180.4(GUCY2D):c.1440G>A (p.Gly480=) rs1445195113 0.00001
NM_000180.4(GUCY2D):c.1449G>A (p.Leu483=) rs141346556 0.00001
NM_000180.4(GUCY2D):c.1463+15G>T rs753328828 0.00001
NM_000180.4(GUCY2D):c.1463+8G>C rs1265017982 0.00001
NM_000180.4(GUCY2D):c.1464-14T>G rs1035031167 0.00001
NM_000180.4(GUCY2D):c.1464-6C>T rs865850943 0.00001
NM_000180.4(GUCY2D):c.1566+12A>C rs1230554373 0.00001
NM_000180.4(GUCY2D):c.1572C>T (p.Ala524=) rs1975777197 0.00001
NM_000180.4(GUCY2D):c.1626C>T (p.Gly542=) rs753620111 0.00001
NM_000180.4(GUCY2D):c.165G>T (p.Thr55=) rs1225559381 0.00001
NM_000180.4(GUCY2D):c.1669-13C>A rs766557426 0.00001
NM_000180.4(GUCY2D):c.1669-14C>G rs761529451 0.00001
NM_000180.4(GUCY2D):c.1719C>A (p.Ile573=) rs377287956 0.00001
NM_000180.4(GUCY2D):c.1728A>G (p.Ala576=) rs1975810760 0.00001
NM_000180.4(GUCY2D):c.1749+11G>A rs759723474 0.00001
NM_000180.4(GUCY2D):c.174C>T (p.Val58=) rs964109390 0.00001
NM_000180.4(GUCY2D):c.1750-7C>G rs918147589 0.00001
NM_000180.4(GUCY2D):c.1791G>A (p.Gly597=) rs756031060 0.00001
NM_000180.4(GUCY2D):c.1851G>A (p.Val617=) rs754581545 0.00001
NM_000180.4(GUCY2D):c.1893C>T (p.Leu631=) rs763522643 0.00001
NM_000180.4(GUCY2D):c.1935C>T (p.Ser645=) rs1417691404 0.00001
NM_000180.4(GUCY2D):c.1956+9C>T rs1975869254 0.00001
NM_000180.4(GUCY2D):c.195C>T (p.Asp65=) rs1174980290 0.00001
NM_000180.4(GUCY2D):c.2046C>T (p.Ile682=) rs772640099 0.00001
NM_000180.4(GUCY2D):c.2055C>T (p.His685=) rs762943482 0.00001
NM_000180.4(GUCY2D):c.2076A>G (p.Glu692=) rs779017511 0.00001
NM_000180.4(GUCY2D):c.2114-15C>T rs560225721 0.00001
NM_000180.4(GUCY2D):c.2114-18C>A rs1280430354 0.00001
NM_000180.4(GUCY2D):c.2114-9C>T rs908880265 0.00001
NM_000180.4(GUCY2D):c.2133G>A (p.Pro711=) rs750635086 0.00001
NM_000180.4(GUCY2D):c.2163C>T (p.Arg721=) rs770747229 0.00001
NM_000180.4(GUCY2D):c.2264-10A>G rs1975905316 0.00001
NM_000180.4(GUCY2D):c.2264-16C>A rs747899948 0.00001
NM_000180.4(GUCY2D):c.2268G>C (p.Val756=) rs746058533 0.00001
NM_000180.4(GUCY2D):c.2280G>T (p.Val760=) rs898895746 0.00001
NM_000180.4(GUCY2D):c.235C>T (p.Leu79=) rs1370068755 0.00001
NM_000180.4(GUCY2D):c.2400C>T (p.His800=) rs759158538 0.00001
NM_000180.4(GUCY2D):c.2409C>T (p.Asp803=) rs756031378 0.00001
NM_000180.4(GUCY2D):c.240C>A (p.Ala80=) rs979318508 0.00001
NM_000180.4(GUCY2D):c.2412+10T>C rs1446169314 0.00001
NM_000180.4(GUCY2D):c.2412+13G>A rs1286154718 0.00001
NM_000180.4(GUCY2D):c.2412+8G>A rs753507183 0.00001
NM_000180.4(GUCY2D):c.2413-18G>T rs530328021 0.00001
NM_000180.4(GUCY2D):c.2475G>A (p.Glu825=) rs746244895 0.00001
NM_000180.4(GUCY2D):c.2493G>A (p.Leu831=) rs1975926047 0.00001
NM_000180.4(GUCY2D):c.2496G>A (p.Glu832=) rs1430681738 0.00001
NM_000180.4(GUCY2D):c.2544G>A (p.Lys848=) rs559924290 0.00001
NM_000180.4(GUCY2D):c.2550C>T (p.Asp850=) rs752946790 0.00001
NM_000180.4(GUCY2D):c.255C>T (p.Asn85=) rs1481027097 0.00001
NM_000180.4(GUCY2D):c.2577-11G>A rs757310094 0.00001
NM_000180.4(GUCY2D):c.2613G>A (p.Val871=) rs1160373310 0.00001
NM_000180.4(GUCY2D):c.2619C>T (p.Pro873=) rs772890193 0.00001
NM_000180.4(GUCY2D):c.2628T>C (p.Phe876=) rs146855363 0.00001
NM_000180.4(GUCY2D):c.2641C>T (p.Leu881=) rs759253167 0.00001
NM_000180.4(GUCY2D):c.2667C>T (p.Phe889=) rs1254573188 0.00001
NM_000180.4(GUCY2D):c.2682C>T (p.Ala894=) rs765266637 0.00001
NM_000180.4(GUCY2D):c.270G>A (p.Leu90=) rs1411984596 0.00001
NM_000180.4(GUCY2D):c.2710C>T (p.Leu904=) rs755324667 0.00001
NM_000180.4(GUCY2D):c.2769+14G>C rs761934425 0.00001
NM_000180.4(GUCY2D):c.2769+9T>G rs771741738 0.00001
NM_000180.4(GUCY2D):c.276C>T (p.Gly92=) rs1180162649 0.00001
NM_000180.4(GUCY2D):c.2770-4C>T rs1975943374 0.00001
NM_000180.4(GUCY2D):c.2775G>A (p.Glu925=) rs1237298043 0.00001
NM_000180.4(GUCY2D):c.2787C>T (p.Asp929=) rs746827007 0.00001
NM_000180.4(GUCY2D):c.2805G>A (p.Ser935=) rs774560137 0.00001
NM_000180.4(GUCY2D):c.2811G>A (p.Leu937=) rs759949982 0.00001
NM_000180.4(GUCY2D):c.2838G>A (p.Ala946=) rs143730352 0.00001
NM_000180.4(GUCY2D):c.2850C>A (p.Ala950=) rs750005559 0.00001
NM_000180.4(GUCY2D):c.2877C>A (p.Ala959=) rs1314415204 0.00001
NM_000180.4(GUCY2D):c.2892C>G (p.Arg964=) rs151052136 0.00001
NM_000180.4(GUCY2D):c.2916C>T (p.Pro972=) rs1263342867 0.00001
NM_000180.4(GUCY2D):c.2928C>T (p.Arg976=) rs761309365 0.00001
NM_000180.4(GUCY2D):c.2944+11G>A rs1042812567 0.00001
NM_000180.4(GUCY2D):c.2944+15T>G rs995953710 0.00001
NM_000180.4(GUCY2D):c.2944+18C>T rs553072849 0.00001
NM_000180.4(GUCY2D):c.2944+9C>T rs1309171387 0.00001
NM_000180.4(GUCY2D):c.2945-14C>T rs541055967 0.00001
NM_000180.4(GUCY2D):c.2945-18C>G rs573455326 0.00001
NM_000180.4(GUCY2D):c.2961C>T (p.Gly987=) rs140936694 0.00001
NM_000180.4(GUCY2D):c.2992C>T (p.Leu998=) rs2545427324 0.00001
NM_000180.4(GUCY2D):c.3036C>T (p.Thr1012=) rs376759049 0.00001
NM_000180.4(GUCY2D):c.3043+14G>A rs1178871111 0.00001
NM_000180.4(GUCY2D):c.3044-20G>A rs773787822 0.00001
NM_000180.4(GUCY2D):c.3084C>G (p.Leu1028=) rs755088085 0.00001
NM_000180.4(GUCY2D):c.3126C>T (p.Arg1042=) rs1343668874 0.00001
NM_000180.4(GUCY2D):c.3133C>T (p.Leu1045=) rs1360004509 0.00001
NM_000180.4(GUCY2D):c.3139-6C>A rs745511852 0.00001
NM_000180.4(GUCY2D):c.3147C>G (p.Gly1049=) rs890534429 0.00001
NM_000180.4(GUCY2D):c.3207G>A (p.Pro1069=) rs967321415 0.00001
NM_000180.4(GUCY2D):c.3219A>G (p.Gln1073=) rs1342165901 0.00001
NM_000180.4(GUCY2D):c.3225-15G>A rs775550206 0.00001
NM_000180.4(GUCY2D):c.3225-8C>T rs890588604 0.00001
NM_000180.4(GUCY2D):c.3228C>T (p.Ser1076=) rs2545428161 0.00001
NM_000180.4(GUCY2D):c.3237C>T (p.His1079=) rs529348303 0.00001
NM_000180.4(GUCY2D):c.3289G>A (p.Ala1097Thr) rs569402782 0.00001
NM_000180.4(GUCY2D):c.3291G>A (p.Ala1097=) rs1490101887 0.00001
NM_000180.4(GUCY2D):c.330G>T (p.Ser110=) rs1975670717 0.00001
NM_000180.4(GUCY2D):c.339C>T (p.Ala113=) rs567463643 0.00001
NM_000180.4(GUCY2D):c.363G>A (p.Val121=) rs917247032 0.00001
NM_000180.4(GUCY2D):c.366G>C (p.Ser122=) rs1975671932 0.00001
NM_000180.4(GUCY2D):c.372C>A (p.Leu124=) rs1436426669 0.00001
NM_000180.4(GUCY2D):c.381G>A (p.Pro127=) rs1400180995 0.00001
NM_000180.4(GUCY2D):c.393G>A (p.Ala131=) rs1431229289 0.00001
NM_000180.4(GUCY2D):c.420C>T (p.Ala140=) rs1349409262 0.00001
NM_000180.4(GUCY2D):c.429C>T (p.Ala143=) rs941216139 0.00001
NM_000180.4(GUCY2D):c.435C>A (p.Ile145=) rs904414208 0.00001
NM_000180.4(GUCY2D):c.471G>A (p.Ala157=) rs1410109074 0.00001
NM_000180.4(GUCY2D):c.492C>T (p.Ala164=) rs752804462 0.00001
NM_000180.4(GUCY2D):c.516C>T (p.Leu172=) rs1175698198 0.00001
NM_000180.4(GUCY2D):c.54T>G (p.Gly18=) rs9905393 0.00001
NM_000180.4(GUCY2D):c.603G>C (p.Leu201=) rs369547545 0.00001
NM_000180.4(GUCY2D):c.621C>T (p.Ala207=) rs757257247 0.00001
NM_000180.4(GUCY2D):c.624G>A (p.Arg208=) rs2545418270 0.00001
NM_000180.4(GUCY2D):c.628C>T (p.Leu210=) rs2545418278 0.00001
NM_000180.4(GUCY2D):c.630G>A (p.Leu210=) rs766837655 0.00001
NM_000180.4(GUCY2D):c.636C>T (p.Val212=) rs1191757655 0.00001
NM_000180.4(GUCY2D):c.717C>G (p.Val239=) rs1393562044 0.00001
NM_000180.4(GUCY2D):c.722-12C>T rs760426420 0.00001
NM_000180.4(GUCY2D):c.722-17C>A rs1598144504 0.00001
NM_000180.4(GUCY2D):c.750G>A (p.Leu250=) rs777436847 0.00001
NM_000180.4(GUCY2D):c.777C>A (p.Leu259=) rs778378811 0.00001
NM_000180.4(GUCY2D):c.786C>T (p.Ala262=) rs1975688868 0.00001
NM_000180.4(GUCY2D):c.81C>T (p.Pro27=) rs1361790718 0.00001
NM_000180.4(GUCY2D):c.840G>A (p.Thr280=) rs370291650 0.00001
NM_000180.4(GUCY2D):c.87C>G (p.Leu29=) rs920824717 0.00001
NM_000180.4(GUCY2D):c.969C>T (p.Asp323=) rs1209687919 0.00001
NM_000180.4(GUCY2D):c.996C>T (p.Arg332=) rs370166526 0.00001
NM_000180.4(GUCY2D):c.1005C>T (p.Pro335=) rs2545418925
NM_000180.4(GUCY2D):c.1026+11C>G rs2545418969
NM_000180.4(GUCY2D):c.1026+11C>T rs2545418969
NM_000180.4(GUCY2D):c.1026+13G>A rs769017393
NM_000180.4(GUCY2D):c.1026+13G>C rs769017393
NM_000180.4(GUCY2D):c.1026+20G>A rs2545418975
NM_000180.4(GUCY2D):c.1026+7G>A rs747148534
NM_000180.4(GUCY2D):c.1026+9T>C rs1975697140
NM_000180.4(GUCY2D):c.1027-12C>G rs1598145891
NM_000180.4(GUCY2D):c.1027-5T>A rs2545420060
NM_000180.4(GUCY2D):c.1027-7T>G rs780368194
NM_000180.4(GUCY2D):c.1027-7_1027-5del rs760494327
NM_000180.4(GUCY2D):c.1059G>A (p.Ala353=) rs372011559
NM_000180.4(GUCY2D):c.105G>A (p.Arg35=) rs2545417342
NM_000180.4(GUCY2D):c.1069C>T (p.Leu357=) rs2545420109
NM_000180.4(GUCY2D):c.1080C>T (p.Gly360=) rs1264540934
NM_000180.4(GUCY2D):c.1092G>A (p.Ala364=) rs2545420156
NM_000180.4(GUCY2D):c.1092G>T (p.Ala364=) rs2545420156
NM_000180.4(GUCY2D):c.1101C>A (p.Ala367=) rs374658427
NM_000180.4(GUCY2D):c.1122C>T (p.Ser374=) rs376364350
NM_000180.4(GUCY2D):c.1147C>A (p.Arg383=) rs545271894
NM_000180.4(GUCY2D):c.1155G>A (p.Ala385=) rs149722832
NM_000180.4(GUCY2D):c.1155G>T (p.Ala385=) rs149722832
NM_000180.4(GUCY2D):c.1173C>T (p.Cys391=) rs1268578360
NM_000180.4(GUCY2D):c.1176G>C (p.Gly392=) rs1975742573
NM_000180.4(GUCY2D):c.1191C>T (p.Asp397=) rs756210907
NM_000180.4(GUCY2D):c.1221G>A (p.Thr407=) rs768284541
NM_000180.4(GUCY2D):c.1230G>T (p.Ala410=) rs542570988
NM_000180.4(GUCY2D):c.1242T>C (p.Leu414=) rs756123157
NM_000180.4(GUCY2D):c.1269C>T (p.Ala423=) rs2545420427
NM_000180.4(GUCY2D):c.1275C>A (p.Gly425=) rs779783880
NM_000180.4(GUCY2D):c.1284C>A (p.Leu428=) rs769023061
NM_000180.4(GUCY2D):c.1284C>T (p.Leu428=) rs769023061
NM_000180.4(GUCY2D):c.1290C>T (p.Ala430=) rs141967896
NM_000180.4(GUCY2D):c.129_134del (p.Leu44_Leu45del) rs552184470
NM_000180.4(GUCY2D):c.1305C>T (p.His435=) rs770719238
NM_000180.4(GUCY2D):c.1311G>A (p.Pro437=) rs775635196
NM_000180.4(GUCY2D):c.1311G>C (p.Pro437=) rs775635196
NM_000180.4(GUCY2D):c.1315G>C (p.Gly439Arg) rs140638938
NM_000180.4(GUCY2D):c.1320A>G (p.Gly440=) rs2151800598
NM_000180.4(GUCY2D):c.132G>A (p.Leu44=) rs1385302975
NM_000180.4(GUCY2D):c.1335T>C (p.Pro445=) rs2545420546
NM_000180.4(GUCY2D):c.1344G>T (p.Ser448=) rs1256989662
NM_000180.4(GUCY2D):c.1365C>T (p.Asn455=) rs770915628
NM_000180.4(GUCY2D):c.1378+14C>T rs2545420636
NM_000180.4(GUCY2D):c.1378+15C>A rs1449509349
NM_000180.4(GUCY2D):c.1378+8C>A rs1457493139
NM_000180.4(GUCY2D):c.1378+8C>G rs1457493139
NM_000180.4(GUCY2D):c.1378+9G>T rs1333086687
NM_000180.4(GUCY2D):c.1379-16G>A rs553866555
NM_000180.4(GUCY2D):c.1379-17T>C rs2545420891
NM_000180.4(GUCY2D):c.1379-20T>G rs373533477
NM_000180.4(GUCY2D):c.1379-6C>T rs1221128063
NM_000180.4(GUCY2D):c.1416G>C (p.Leu472=) rs2545420943
NM_000180.4(GUCY2D):c.141C>G (p.Pro47=) rs1482857964
NM_000180.4(GUCY2D):c.1431G>A (p.Gly477=)
NM_000180.4(GUCY2D):c.1446C>T (p.Phe482=) rs572166519
NM_000180.4(GUCY2D):c.144C>A (p.Pro48=)
NM_000180.4(GUCY2D):c.144C>G (p.Pro48=) rs749800225
NM_000180.4(GUCY2D):c.144C>T (p.Pro48=) rs749800225
NM_000180.4(GUCY2D):c.1458T>C (p.Tyr486=) rs2545420994
NM_000180.4(GUCY2D):c.1463+11G>T
NM_000180.4(GUCY2D):c.1463+16A>G rs2545421021
NM_000180.4(GUCY2D):c.1464-15del rs761213112
NM_000180.4(GUCY2D):c.1464-19T>C rs2545421255
NM_000180.4(GUCY2D):c.1464-4C>T rs1422728100
NM_000180.4(GUCY2D):c.1464-7C>T rs2545421270
NM_000180.4(GUCY2D):c.1464-8T>C rs2545421265
NM_000180.4(GUCY2D):c.1479C>T (p.His493=) rs377622295
NM_000180.4(GUCY2D):c.1497C>A (p.Gly499=)
NM_000180.4(GUCY2D):c.1497C>T (p.Gly499=) rs754833828
NM_000180.4(GUCY2D):c.1503C>T (p.Asn501=) rs1479771628
NM_000180.4(GUCY2D):c.1506G>A (p.Lys502=) rs2545421332
NM_000180.4(GUCY2D):c.1518C>A (p.Thr506=) rs779132852
NM_000180.4(GUCY2D):c.1527C>T (p.Asp509=) rs769018282
NM_000180.4(GUCY2D):c.1533C>A (p.Thr511=)
NM_000180.4(GUCY2D):c.1542C>T (p.His514=) rs2151800915
NM_000180.4(GUCY2D):c.1557C>T (p.Thr519=) rs1975769915
NM_000180.4(GUCY2D):c.1560T>C (p.Ser520=) rs1975769997
NM_000180.4(GUCY2D):c.1566+12AG[2] rs2545421435
NM_000180.4(GUCY2D):c.1566+7G>A rs757525165
NM_000180.4(GUCY2D):c.1567-13C>T rs2545421660
NM_000180.4(GUCY2D):c.1567-14C>T
NM_000180.4(GUCY2D):c.1567-20C>T rs374566845
NM_000180.4(GUCY2D):c.1567-9A>G rs765520038
NM_000180.4(GUCY2D):c.1581T>C (p.Ser527=) rs2545421685
NM_000180.4(GUCY2D):c.1593G>A (p.Leu531=) rs770148893
NM_000180.4(GUCY2D):c.159G>A (p.Val53=) rs2545417437
NM_000180.4(GUCY2D):c.1620C>T (p.Arg540=) rs2545421724
NM_000180.4(GUCY2D):c.1623C>T (p.Ser541=)
NM_000180.4(GUCY2D):c.1626C>A (p.Gly542=)
NM_000180.4(GUCY2D):c.1626C>G (p.Gly542=) rs753620111
NM_000180.4(GUCY2D):c.165G>A (p.Thr55=) rs1225559381
NM_000180.4(GUCY2D):c.1668+11C>A rs751582497
NM_000180.4(GUCY2D):c.1668+17C>A rs755056200
NM_000180.4(GUCY2D):c.1668+22_1668+25del rs1567959048
NM_000180.4(GUCY2D):c.1669-13C>T rs766557426
NM_000180.4(GUCY2D):c.1669-14C>A rs761529451
NM_000180.4(GUCY2D):c.1669-15T>A rs2545422469
NM_000180.4(GUCY2D):c.1669-17C>G
NM_000180.4(GUCY2D):c.1669-18C>A rs1413482493
NM_000180.4(GUCY2D):c.1669-19C>G rs2545422464
NM_000180.4(GUCY2D):c.1669-4G>T
NM_000180.4(GUCY2D):c.1669-5T>C rs1224494757
NM_000180.4(GUCY2D):c.1669-9_1669-8del rs757259115
NM_000180.4(GUCY2D):c.1731C>A (p.Thr577=) rs776439113
NM_000180.4(GUCY2D):c.1737G>A (p.Thr579=) rs761631031
NM_000180.4(GUCY2D):c.1740C>G (p.Ala580=)
NM_000180.4(GUCY2D):c.1749+14C>T rs2151801565
NM_000180.4(GUCY2D):c.1749+16G>A rs2545422602
NM_000180.4(GUCY2D):c.1750-16A>G rs772221900
NM_000180.4(GUCY2D):c.1750-16A>T rs772221900
NM_000180.4(GUCY2D):c.1750-5C>T rs2151802315
NM_000180.4(GUCY2D):c.1750-8C>G rs760765585
NM_000180.4(GUCY2D):c.1752C>A (p.Leu584=) rs764099561
NM_000180.4(GUCY2D):c.1752C>T (p.Leu584=)
NM_000180.4(GUCY2D):c.1779C>T (p.Ala593=) rs1598148950
NM_000180.4(GUCY2D):c.177G>T (p.Leu59=) rs1056763147
NM_000180.4(GUCY2D):c.1804C>A (p.Arg602=) rs770740012
NM_000180.4(GUCY2D):c.1827C>T (p.Ala609=) rs902356553
NM_000180.4(GUCY2D):c.1842C>T (p.Asn614=) rs2545424023
NM_000180.4(GUCY2D):c.1854C>T (p.Val618=) rs2151802387
NM_000180.4(GUCY2D):c.1863C>T (p.His621=) rs2545424038
NM_000180.4(GUCY2D):c.1893C>A (p.Leu631=) rs763522643
NM_000180.4(GUCY2D):c.1947C>T (p.Asp649=) rs1723716669
NM_000180.4(GUCY2D):c.1953C>T (p.Ile651=) rs2545424122
NM_000180.4(GUCY2D):c.1956+11G>A rs1179230445
NM_000180.4(GUCY2D):c.1956+11G>C rs1179230445
NM_000180.4(GUCY2D):c.1956+13G>A rs1251486299
NM_000180.4(GUCY2D):c.1956+14G>T rs1975869462
NM_000180.4(GUCY2D):c.1956+19T>G rs1191859493
NM_000180.4(GUCY2D):c.1956+7G>A rs2545424130
NM_000180.4(GUCY2D):c.1957-11C>T rs2545424206
NM_000180.4(GUCY2D):c.1957-7T>C rs2545424212
NM_000180.4(GUCY2D):c.1957-9C>A rs1170909829
NM_000180.4(GUCY2D):c.1957-9C>G rs1170909829
NM_000180.4(GUCY2D):c.1971G>A (p.Leu657=)
NM_000180.4(GUCY2D):c.1977T>C (p.His659=) rs2151802500
NM_000180.4(GUCY2D):c.2052C>T (p.Asp684=)
NM_000180.4(GUCY2D):c.2067A>G (p.Arg689=) rs754134176
NM_000180.4(GUCY2D):c.2073G>A (p.Leu691=) rs757466277
NM_000180.4(GUCY2D):c.207T>C (p.Ser69=) rs765331376
NM_000180.4(GUCY2D):c.207T>G (p.Ser69=) rs765331376
NM_000180.4(GUCY2D):c.2082G>A (p.Gln694=) rs897891966
NM_000180.4(GUCY2D):c.2103C>T (p.Pro701=) rs2545424347
NM_000180.4(GUCY2D):c.2113+10C>T rs1975877852
NM_000180.4(GUCY2D):c.2113+13T>C rs2545424380
NM_000180.4(GUCY2D):c.2113+9C>A rs201717870
NM_000180.4(GUCY2D):c.2113+9C>T rs201717870
NM_000180.4(GUCY2D):c.2114-14T>C rs1378683870
NM_000180.4(GUCY2D):c.2114-17C>A rs770587800
NM_000180.4(GUCY2D):c.2114-17C>T rs770587800
NM_000180.4(GUCY2D):c.2114-17_2114-16delinsTT rs2151802757
NM_000180.4(GUCY2D):c.2114-7T>A rs2545424742
NM_000180.4(GUCY2D):c.2114-8A>C rs1166536888
NM_000180.4(GUCY2D):c.2114-8A>G rs1166536888
NM_000180.4(GUCY2D):c.2127A>G (p.Thr709=) rs2151802773
NM_000180.4(GUCY2D):c.2142T>G (p.Leu714=) rs2545424776
NM_000180.4(GUCY2D):c.2145G>A (p.Arg715=) rs751705225
NM_000180.4(GUCY2D):c.2157G>A (p.Leu719=) rs2151802788
NM_000180.4(GUCY2D):c.216C>T (p.Arg72=) rs1345026585
NM_000180.4(GUCY2D):c.2181C>T (p.Gly727=) rs140628227
NM_000180.4(GUCY2D):c.2190T>C (p.Phe730=) rs2545424828
NM_000180.4(GUCY2D):c.2193C>T (p.Ser731=) rs2545424832
NM_000180.4(GUCY2D):c.2223C>T (p.Cys741=)
NM_000180.4(GUCY2D):c.2238T>C (p.Tyr746=) rs2545424875
NM_000180.4(GUCY2D):c.2241C>T (p.Ala747=) rs2151802845
NM_000180.4(GUCY2D):c.2247G>A (p.Leu749=) rs746893543
NM_000180.4(GUCY2D):c.2263+20G>A rs1180607847
NM_000180.4(GUCY2D):c.2264-11C>T rs1318920712
NM_000180.4(GUCY2D):c.2264-14C>T rs2545425303
NM_000180.4(GUCY2D):c.2264-18G>C rs2545425298
NM_000180.4(GUCY2D):c.2264-7C>A rs1200683449
NM_000180.4(GUCY2D):c.2280G>A (p.Val760=) rs898895746
NM_000180.4(GUCY2D):c.2286C>T (p.Ser762=) rs777306136
NM_000180.4(GUCY2D):c.228C>T (p.Ala76=) rs1309007524
NM_000180.4(GUCY2D):c.2292T>C (p.Pro764=) rs1393165151
NM_000180.4(GUCY2D):c.2301T>C (p.Cys767=) rs2151803063
NM_000180.4(GUCY2D):c.2304G>A (p.Arg768=) rs2545425343
NM_000180.4(GUCY2D):c.2307C>G (p.Pro769=) rs892594922
NM_000180.4(GUCY2D):c.2313G>A (p.Val771=) rs138162268
NM_000180.4(GUCY2D):c.2343C>T (p.Ile781=) rs2545425392
NM_000180.4(GUCY2D):c.2345_2346delinsAT (p.Leu782His) rs2545425402
NM_000180.4(GUCY2D):c.2376G>A (p.Pro792=) rs770484034
NM_000180.4(GUCY2D):c.2376G>C (p.Pro792=) rs770484034
NM_000180.4(GUCY2D):c.2412+11G>A rs774430952
NM_000180.4(GUCY2D):c.2412+16T>A rs780088411
NM_000180.4(GUCY2D):c.2412+8G>C rs753507183
NM_000180.4(GUCY2D):c.2413-12T>C rs2545425911
NM_000180.4(GUCY2D):c.2413-13C>T rs2545425908
NM_000180.4(GUCY2D):c.2413-14C>G rs189559705
NM_000180.4(GUCY2D):c.2413-4C>T rs765079532
NM_000180.4(GUCY2D):c.2413-6T>C rs1054794686
NM_000180.4(GUCY2D):c.2421C>T (p.Asn807=) rs2545425930
NM_000180.4(GUCY2D):c.2442G>A (p.Thr814=) rs1426236694
NM_000180.4(GUCY2D):c.2457G>A (p.Ser819=) rs149866657
NM_000180.4(GUCY2D):c.2491C>T (p.Leu831=) rs771641368
NM_000180.4(GUCY2D):c.2505C>T (p.Ile835=) rs1216216065
NM_000180.4(GUCY2D):c.2514C>T (p.Arg838=) rs2545426035
NM_000180.4(GUCY2D):c.2517G>C (p.Thr839=) rs56316238
NM_000180.4(GUCY2D):c.2526G>A (p.Leu842=) rs1477684822
NM_000180.4(GUCY2D):c.2556G>A (p.Leu852=) rs1975928491
NM_000180.4(GUCY2D):c.2562A>G (p.Thr854=) rs1172818170
NM_000180.4(GUCY2D):c.2576+15G>A rs1975929368
NM_000180.4(GUCY2D):c.2576+20G>A rs1975929620
NM_000180.4(GUCY2D):c.2576+7G>T rs2545426116
NM_000180.4(GUCY2D):c.2577-6C>T rs2545426215
NM_000180.4(GUCY2D):c.2592C>T (p.Ala864=) rs758941038
NM_000180.4(GUCY2D):c.2601G>A (p.Thr867=) rs760202269
NM_000180.4(GUCY2D):c.261C>T (p.Asp87=) rs1392838271
NM_000180.4(GUCY2D):c.264C>A (p.Pro88=) rs756121043
NM_000180.4(GUCY2D):c.264C>T (p.Pro88=) rs756121043
NM_000180.4(GUCY2D):c.2655C>T (p.Asp885=) rs55687426
NM_000180.4(GUCY2D):c.267C>T (p.Gly89=) rs2545417656
NM_000180.4(GUCY2D):c.2694C>T (p.Pro898=)
NM_000180.4(GUCY2D):c.2700G>A (p.Glu900=) rs1379084211
NM_000180.4(GUCY2D):c.2769+15G>C rs377279983
NM_000180.4(GUCY2D):c.2769+16G>A
NM_000180.4(GUCY2D):c.2769+16G>C rs773211045
NM_000180.4(GUCY2D):c.2769+8G>A rs1221336629
NM_000180.4(GUCY2D):c.2770-10C>T rs1359016577
NM_000180.4(GUCY2D):c.2770-13C>T rs2545426731
NM_000180.4(GUCY2D):c.2770-14_2770-12del rs766104084
NM_000180.4(GUCY2D):c.2770-16C>T rs1975942786
NM_000180.4(GUCY2D):c.2770-20A>C rs2545426722
NM_000180.4(GUCY2D):c.2770-4C>G rs1975943374
NM_000180.4(GUCY2D):c.2770-7C>A rs745761477
NM_000180.4(GUCY2D):c.2770-9_2770-7del rs1425779028
NM_000180.4(GUCY2D):c.2793T>C (p.Tyr931=)
NM_000180.4(GUCY2D):c.2808G>C (p.Gly936=) rs1183105719
NM_000180.4(GUCY2D):c.2823T>C (p.Asn941=) rs752935089
NM_000180.4(GUCY2D):c.2835C>T (p.His945=) rs2545426831
NM_000180.4(GUCY2D):c.2838G>C (p.Ala946=) rs143730352
NM_000180.4(GUCY2D):c.2859A>T (p.Ser953=) rs2545426850
NM_000180.4(GUCY2D):c.2860C>T (p.Leu954=) rs780072959
NM_000180.4(GUCY2D):c.2865C>T (p.Asp955=)
NM_000180.4(GUCY2D):c.2871C>A (p.Leu957=) rs2545426867
NM_000180.4(GUCY2D):c.2877C>T (p.Ala959=) rs1314415204
NM_000180.4(GUCY2D):c.2892C>A (p.Arg964=) rs151052136
NM_000180.4(GUCY2D):c.2928C>A (p.Arg976=) rs761309365
NM_000180.4(GUCY2D):c.2940C>T (p.His980=)
NM_000180.4(GUCY2D):c.2944+10G>C rs779480027
NM_000180.4(GUCY2D):c.2944+14_2944+23dup rs1329177766
NM_000180.4(GUCY2D):c.2944+17C>G rs1216408934
NM_000180.4(GUCY2D):c.2944+18C>G rs553072849
NM_000180.4(GUCY2D):c.2944+19_2944+26del rs2545427009
NM_000180.4(GUCY2D):c.2944+7C>T rs1975950069
NM_000180.4(GUCY2D):c.2945-11C>A rs1164106802
NM_000180.4(GUCY2D):c.2945-15C>T rs1975955681
NM_000180.4(GUCY2D):c.2945-16C>A rs2545427232
NM_000180.4(GUCY2D):c.2945-16C>T
NM_000180.4(GUCY2D):c.2945-18C>A rs573455326
NM_000180.4(GUCY2D):c.2946T>A (p.Gly982=) rs1290360925
NM_000180.4(GUCY2D):c.2946T>C (p.Gly982=) rs1290360925
NM_000180.4(GUCY2D):c.2961C>A (p.Gly987=) rs140936694
NM_000180.4(GUCY2D):c.297G>T (p.Ala99=)
NM_000180.4(GUCY2D):c.2994G>A (p.Leu998=) rs757657345
NM_000180.4(GUCY2D):c.3009C>T (p.Val1003=) rs1322441705
NM_000180.4(GUCY2D):c.3015C>T (p.Thr1005=) rs1364152269
NM_000180.4(GUCY2D):c.3018C>G (p.Ala1006=) rs2545427352
NM_000180.4(GUCY2D):c.3018C>T (p.Ala1006=) rs2545427352
NM_000180.4(GUCY2D):c.3043+11C>A rs116870332
NM_000180.4(GUCY2D):c.3043+14G>C rs1178871111
NM_000180.4(GUCY2D):c.3043+17_3043+27dup rs2545427386
NM_000180.4(GUCY2D):c.3043+9G>C
NM_000180.4(GUCY2D):c.3044-10A>G rs1488090747
NM_000180.4(GUCY2D):c.3044-5C>T rs1270696873
NM_000180.4(GUCY2D):c.3048C>T (p.Tyr1016=)
NM_000180.4(GUCY2D):c.3051C>A (p.Arg1017=) rs143761257
NM_000180.4(GUCY2D):c.3054C>A (p.Ile1018=) rs2151803924
NM_000180.4(GUCY2D):c.3057C>T (p.His1019=) rs780426461
NM_000180.4(GUCY2D):c.306C>A (p.Pro102=) rs540877830
NM_000180.4(GUCY2D):c.306C>T (p.Pro102=) rs540877830
NM_000180.4(GUCY2D):c.309G>A (p.Glu103=) rs2545417718
NM_000180.4(GUCY2D):c.3129G>C (p.Thr1043=) rs200403362
NM_000180.4(GUCY2D):c.3139-12A>G
NM_000180.4(GUCY2D):c.3139-13C>T rs1258857507
NM_000180.4(GUCY2D):c.3139-14C>T rs771261012
NM_000180.4(GUCY2D):c.3139-4C>T rs2545427823
NM_000180.4(GUCY2D):c.3139-7dup rs2545427815
NM_000180.4(GUCY2D):c.3144G>A (p.Lys1048=) rs1406899978
NM_000180.4(GUCY2D):c.3166C>T (p.Leu1056=)
NM_000180.4(GUCY2D):c.3180C>G (p.Arg1060=)
NM_000180.4(GUCY2D):c.3186C>T (p.Phe1062=) rs1421587079
NM_000180.4(GUCY2D):c.3198C>T (p.Ile1066=) rs1406444022
NM_000180.4(GUCY2D):c.321G>T (p.Thr107=) rs2151799365
NM_000180.4(GUCY2D):c.3222G>A (p.Pro1074=) rs777954711
NM_000180.4(GUCY2D):c.3224+11_3224+44del rs2545427959
NM_000180.4(GUCY2D):c.3224+16C>A rs2545427972
NM_000180.4(GUCY2D):c.3224+20G>A rs2545427979
NM_000180.4(GUCY2D):c.3224+7G>A rs2151804152
NM_000180.4(GUCY2D):c.3225-10C>G rs200705417
NM_000180.4(GUCY2D):c.3225-11C>A rs1261330161
NM_000180.4(GUCY2D):c.3225-11C>G rs1261330161
NM_000180.4(GUCY2D):c.3225-11C>T rs1261330161
NM_000180.4(GUCY2D):c.3225-14C>A rs1351613687
NM_000180.4(GUCY2D):c.3225-16C>G rs1975977506
NM_000180.4(GUCY2D):c.3225-19C>T rs2545428138
NM_000180.4(GUCY2D):c.3234C>T (p.Asn1078=) rs1975978537
NM_000180.4(GUCY2D):c.324G>T (p.Pro108=) rs1214940387
NM_000180.4(GUCY2D):c.3264C>G (p.Pro1088=) rs754717527
NM_000180.4(GUCY2D):c.3264C>T (p.Pro1088=)
NM_000180.4(GUCY2D):c.3274C>A (p.Arg1092=) rs746525316
NM_000180.4(GUCY2D):c.327C>G (p.Gly109=) rs2151799371
NM_000180.4(GUCY2D):c.327C>T (p.Gly109=) rs2151799371
NM_000180.4(GUCY2D):c.3297G>C (p.Pro1099=) rs142351773
NM_000180.4(GUCY2D):c.348C>T (p.Ser116=) rs1598144036
NM_000180.4(GUCY2D):c.352C>T (p.Leu118=) rs2545417789
NM_000180.4(GUCY2D):c.357C>T (p.Ala119=)
NM_000180.4(GUCY2D):c.36G>A (p.Pro12=) rs753855098
NM_000180.4(GUCY2D):c.372C>T (p.Leu124=) rs1436426669
NM_000180.4(GUCY2D):c.375G>A (p.Val125=)
NM_000180.4(GUCY2D):c.381G>C (p.Pro127=) rs1400180995
NM_000180.4(GUCY2D):c.408C>A (p.Ala136=) rs886998148
NM_000180.4(GUCY2D):c.414G>C (p.Leu138=) rs1380266915
NM_000180.4(GUCY2D):c.417C>A (p.Leu139=) rs2545417886
NM_000180.4(GUCY2D):c.417C>T (p.Leu139=) rs2545417886
NM_000180.4(GUCY2D):c.438G>T (p.Ala146=) rs765243245
NM_000180.4(GUCY2D):c.456C>T (p.Cys152=) rs2545418014
NM_000180.4(GUCY2D):c.459C>T (p.Pro153=) rs2151799423
NM_000180.4(GUCY2D):c.45G>T (p.Gly15=) rs1342484355
NM_000180.4(GUCY2D):c.468G>A (p.Gln156=) rs2545418031
NM_000180.4(GUCY2D):c.489T>G (p.Pro163=) rs1567957174
NM_000180.4(GUCY2D):c.492C>G (p.Ala164=) rs752804462
NM_000180.4(GUCY2D):c.516C>G (p.Leu172=) rs1175698198
NM_000180.4(GUCY2D):c.519C>T (p.Tyr173=) rs794727237
NM_000180.4(GUCY2D):c.531C>T (p.Arg177=) rs1975677702
NM_000180.4(GUCY2D):c.534A>G (p.Ala178=) rs758629545
NM_000180.4(GUCY2D):c.534A>T (p.Ala178=) rs758629545
NM_000180.4(GUCY2D):c.549C>T (p.Arg183=)
NM_000180.4(GUCY2D):c.556C>T (p.Leu186=) rs780449707
NM_000180.4(GUCY2D):c.567C>G (p.Ala189=) rs878957425
NM_000180.4(GUCY2D):c.591G>C (p.Ala197=) rs1460265846
NM_000180.4(GUCY2D):c.60G>C (p.Ala20=) rs1975659801
NM_000180.4(GUCY2D):c.618G>A (p.Arg206=) rs2545418262
NM_000180.4(GUCY2D):c.636C>G (p.Val212=)
NM_000180.4(GUCY2D):c.642C>G (p.Ser214=) rs758939310
NM_000180.4(GUCY2D):c.660C>T (p.Pro220=) rs2545418318
NM_000180.4(GUCY2D):c.667C>T (p.Leu223=) rs772765835
NM_000180.4(GUCY2D):c.669G>T (p.Leu223=) rs2545418328
NM_000180.4(GUCY2D):c.672T>C (p.Ser224=) rs1298131011
NM_000180.4(GUCY2D):c.679C>A (p.Arg227=) rs1366343667
NM_000180.4(GUCY2D):c.681G>A (p.Arg227=) rs2545418336
NM_000180.4(GUCY2D):c.705C>T (p.Asp235=) rs1460692143
NM_000180.4(GUCY2D):c.708G>T (p.Gly236=) rs899659483
NM_000180.4(GUCY2D):c.711C>T (p.Pro237=) rs750484873
NM_000180.4(GUCY2D):c.714G>A (p.Arg238=) rs1427944844
NM_000180.4(GUCY2D):c.721+10C>T rs2545418413
NM_000180.4(GUCY2D):c.721+17G>A rs978420396
NM_000180.4(GUCY2D):c.721+17G>T rs978420396
NM_000180.4(GUCY2D):c.721+8C>G rs1458579129
NM_000180.4(GUCY2D):c.721+9C>T rs755329222
NM_000180.4(GUCY2D):c.722-4G>A rs770035607
NM_000180.4(GUCY2D):c.722-5C>T rs1975686416
NM_000180.4(GUCY2D):c.723A>G (p.Ala241=) rs1288920920
NM_000180.4(GUCY2D):c.735G>A (p.Val245=) rs2545418544
NM_000180.4(GUCY2D):c.744G>C (p.Ser248=) rs1253202034
NM_000180.4(GUCY2D):c.75C>T (p.Ser25=) rs2545417282
NM_000180.4(GUCY2D):c.78G>T (p.Leu26=) rs2151799217
NM_000180.4(GUCY2D):c.804G>A (p.Leu268=) rs746769693
NM_000180.4(GUCY2D):c.819G>A (p.Leu273=) rs2545418653
NM_000180.4(GUCY2D):c.822C>G (p.Val274=) rs2151799672
NM_000180.4(GUCY2D):c.822C>T (p.Val274=) rs2151799672
NM_000180.4(GUCY2D):c.834C>T (p.Phe278=) rs1248892843
NM_000180.4(GUCY2D):c.840G>T (p.Thr280=) rs370291650
NM_000180.4(GUCY2D):c.843C>A (p.Ile281=) rs2545418681
NM_000180.4(GUCY2D):c.849C>T (p.Tyr283=) rs143745703
NM_000180.4(GUCY2D):c.858C>G (p.Ser286=) rs2545418706
NM_000180.4(GUCY2D):c.879C>T (p.Ala293=) rs1975691535
NM_000180.4(GUCY2D):c.909G>A (p.Arg303=) rs772311336
NM_000180.4(GUCY2D):c.915C>T (p.His305=) rs1975693104
NM_000180.4(GUCY2D):c.93G>T (p.Arg31=) rs2151799230
NM_000180.4(GUCY2D):c.954A>G (p.Glu318=) rs757835419
NM_000180.4(GUCY2D):c.978C>T (p.Arg326=) rs2151799758
NM_000180.4(GUCY2D):c.990G>A (p.Glu330=) rs2151799762
NM_000180.4(GUCY2D):c.993C>T (p.Arg331=) rs1469682064

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.