ClinVar Miner

List of variants reported as uncertain significance for Hereditary cancer-predisposing syndrome; Cardiovascular phenotype by Ambry Genetics

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ClinVar version:
Total variants: 2839
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HGVS dbSNP gnomAD frequency
NM_006767.4(LZTR1):c.1412G>A (p.Arg471His) rs139031749 0.00021
NM_006767.4(LZTR1):c.1517C>T (p.Pro506Leu) rs763950976 0.00016
NM_006767.4(LZTR1):c.488C>T (p.Thr163Met) rs200806641 0.00014
NM_006767.4(LZTR1):c.1449+3G>A rs369605093 0.00012
NM_006767.4(LZTR1):c.410C>A (p.Thr137Asn) rs146627447 0.00010
NM_006767.4(LZTR1):c.2428C>T (p.Arg810Trp) rs776893978 0.00009
NM_006767.4(LZTR1):c.1303C>T (p.Arg435Trp) rs369722558 0.00008
NM_006767.4(LZTR1):c.1711G>A (p.Glu571Lys) rs5761750 0.00008
NM_006767.4(LZTR1):c.1855C>T (p.Arg619Cys) rs373488966 0.00008
NM_006767.4(LZTR1):c.2023G>A (p.Gly675Arg) rs369362070 0.00008
NM_006767.4(LZTR1):c.373G>A (p.Val125Ile) rs775434314 0.00007
NM_001042492.3(NF1):c.3217A>G (p.Met1073Val) rs199474740 0.00006
NM_006767.4(LZTR1):c.1354A>G (p.Lys452Glu) rs200296313 0.00006
NM_006767.4(LZTR1):c.1424C>T (p.Thr475Met) rs376046310 0.00006
NM_006767.4(LZTR1):c.1498G>C (p.Ala500Pro) rs377075596 0.00006
NM_006767.4(LZTR1):c.1852G>A (p.Glu618Lys) rs766345180 0.00006
NM_006767.4(LZTR1):c.2089C>T (p.Arg697Trp) rs751516987 0.00006
NM_006767.4(LZTR1):c.2232G>A (p.Ala744=) rs139261473 0.00006
NM_006767.4(LZTR1):c.2429G>A (p.Arg810Gln) rs200195452 0.00006
NM_006767.4(LZTR1):c.2131G>A (p.Gly711Arg) rs777021795 0.00005
NM_006767.4(LZTR1):c.2260A>C (p.Asn754His) rs745755957 0.00005
NM_006767.4(LZTR1):c.710G>A (p.Arg237Gln) rs773696598 0.00005
NM_006767.4(LZTR1):c.988A>G (p.Ser330Gly) rs777443417 0.00005
NM_001042492.3(NF1):c.181A>G (p.Ile61Val) rs754295034 0.00004
NM_001042492.3(NF1):c.3358G>C (p.Val1120Leu) rs200594167 0.00004
NM_001042492.3(NF1):c.3947A>G (p.His1316Arg) rs751023085 0.00004
NM_001042492.3(NF1):c.5255A>G (p.Lys1752Arg) rs864622373 0.00004
NM_006767.4(LZTR1):c.1019G>A (p.Arg340Gln) rs368589786 0.00004
NM_006767.4(LZTR1):c.1183G>A (p.Val395Ile) rs373591504 0.00004
NM_006767.4(LZTR1):c.1195G>A (p.Ala399Thr) rs778238285 0.00004
NM_006767.4(LZTR1):c.1318C>T (p.Arg440Cys) rs776696572 0.00004
NM_006767.4(LZTR1):c.1394C>T (p.Ala465Val) rs753757778 0.00004
NM_006767.4(LZTR1):c.1403G>A (p.Arg468His) rs146427018 0.00004
NM_006767.4(LZTR1):c.1433G>A (p.Arg478Gln) rs138036477 0.00004
NM_006767.4(LZTR1):c.1514G>A (p.Arg505Gln) rs201773172 0.00004
NM_006767.4(LZTR1):c.1615+5G>A rs758783465 0.00004
NM_006767.4(LZTR1):c.1942+3A>G rs763690028 0.00004
NM_006767.4(LZTR1):c.1978G>A (p.Glu660Lys) rs151000791 0.00004
NM_006767.4(LZTR1):c.2032C>T (p.Arg678Trp) rs780217270 0.00004
NM_006767.4(LZTR1):c.2306C>T (p.Thr769Met) rs531211534 0.00004
NM_006767.4(LZTR1):c.2317G>A (p.Val773Met) rs199586863 0.00004
NM_006767.4(LZTR1):c.23G>C (p.Gly8Ala) rs764439278 0.00004
NM_006767.4(LZTR1):c.824G>A (p.Arg275Gln) rs778001313 0.00004
NM_006767.4(LZTR1):c.946G>A (p.Val316Met) rs370315661 0.00004
NM_006767.4(LZTR1):c.970G>A (p.Val324Ile) rs140013693 0.00004
NM_001042492.3(NF1):c.169G>A (p.Gly57Ser) rs779727341 0.00003
NM_001042492.3(NF1):c.178A>G (p.Thr60Ala) rs546729596 0.00003
NM_001042492.3(NF1):c.2570A>G (p.Asn857Ser) rs1060500299 0.00003
NM_001042492.3(NF1):c.2856A>C (p.Leu952Phe) rs750488772 0.00003
NM_001042492.3(NF1):c.2999G>A (p.Arg1000His) rs753082620 0.00003
NM_001042492.3(NF1):c.6082G>A (p.Ala2028Thr) rs767869530 0.00003
NM_006767.4(LZTR1):c.1385T>C (p.Ile462Thr) rs147684991 0.00003
NM_006767.4(LZTR1):c.1549G>A (p.Glu517Lys) rs748528782 0.00003
NM_006767.4(LZTR1):c.1556G>A (p.Arg519Gln) rs149502567 0.00003
NM_006767.4(LZTR1):c.1591G>A (p.Asp531Asn) rs138615487 0.00003
NM_006767.4(LZTR1):c.1610G>A (p.Arg537Gln) rs769150226 0.00003
NM_006767.4(LZTR1):c.2401A>C (p.Thr801Pro) rs1215965010 0.00003
NM_006767.4(LZTR1):c.387C>T (p.Ser129=) rs368158143 0.00003
NM_006767.4(LZTR1):c.506G>A (p.Gly169Glu) rs751873839 0.00003
NM_006767.4(LZTR1):c.508C>T (p.Arg170Trp) rs757502214 0.00003
NM_006767.4(LZTR1):c.667G>A (p.Glu223Lys) rs369204535 0.00003
NM_006767.4(LZTR1):c.788A>G (p.Lys263Arg) rs144573377 0.00003
NM_006767.4(LZTR1):c.823C>T (p.Arg275Trp) rs758651123 0.00003
NM_006767.4(LZTR1):c.989G>T (p.Ser330Ile) rs376331457 0.00003
NM_001042492.3(NF1):c.1223A>G (p.Tyr408Cys) rs876660344 0.00002
NM_001042492.3(NF1):c.1247G>A (p.Arg416Gln) rs1343309278 0.00002
NM_001042492.3(NF1):c.145T>A (p.Tyr49Asn) rs764367878 0.00002
NM_001042492.3(NF1):c.2282C>T (p.Ala761Val) rs746850653 0.00002
NM_001042492.3(NF1):c.2617C>T (p.Arg873Cys) rs199474739 0.00002
NM_001042492.3(NF1):c.2819C>G (p.Thr940Ser) rs368995630 0.00002
NM_001042492.3(NF1):c.367A>G (p.Thr123Ala) rs587781757 0.00002
NM_001042492.3(NF1):c.4262C>T (p.Pro1421Leu) rs753997885 0.00002
NM_001042492.3(NF1):c.4286A>G (p.Lys1429Arg) rs778056258 0.00002
NM_001042492.3(NF1):c.4357G>A (p.Val1453Ile) rs199474755 0.00002
NM_001042492.3(NF1):c.4426C>T (p.Arg1476Cys) rs771420960 0.00002
NM_001042492.3(NF1):c.4657C>G (p.Pro1553Ala) rs1033427343 0.00002
NM_001042492.3(NF1):c.5263A>G (p.Ile1755Val) rs370181275 0.00002
NM_001042492.3(NF1):c.5423C>T (p.Thr1808Met) rs760649828 0.00002
NM_001042492.3(NF1):c.5470A>G (p.Ile1824Val) rs370858405 0.00002
NM_001042492.3(NF1):c.7523A>G (p.Tyr2508Cys) rs762169098 0.00002
NM_001042492.3(NF1):c.7838C>T (p.Pro2613Leu) rs750972729 0.00002
NM_001042492.3(NF1):c.8456G>A (p.Ser2819Asn) rs934837854 0.00002
NM_006767.4(LZTR1):c.1085G>A (p.Arg362Gln) rs745476291 0.00002
NM_006767.4(LZTR1):c.1175C>T (p.Ala392Val) rs767354230 0.00002
NM_006767.4(LZTR1):c.1360G>A (p.Glu454Lys) rs771525633 0.00002
NM_006767.4(LZTR1):c.1384A>G (p.Ile462Val) rs751597202 0.00002
NM_006767.4(LZTR1):c.1540C>T (p.Arg514Trp) rs779673877 0.00002
NM_006767.4(LZTR1):c.1678T>C (p.Cys560Arg) rs754093586 0.00002
NM_006767.4(LZTR1):c.1759G>A (p.Ala587Thr) rs1305693117 0.00002
NM_006767.4(LZTR1):c.1991C>T (p.Ala664Val) rs776112712 0.00002
NM_006767.4(LZTR1):c.2026C>A (p.His676Asn) rs756293448 0.00002
NM_006767.4(LZTR1):c.2063G>A (p.Arg688His) rs535779363 0.00002
NM_006767.4(LZTR1):c.2173C>T (p.Arg725Cys) rs778626874 0.00002
NM_006767.4(LZTR1):c.2174G>A (p.Arg725His) rs752191147 0.00002
NM_006767.4(LZTR1):c.2191G>A (p.Glu731Lys) rs377445349 0.00002
NM_006767.4(LZTR1):c.2263C>T (p.Arg755Trp) rs141161152 0.00002
NM_006767.4(LZTR1):c.2326-3C>T rs375845428 0.00002
NM_006767.4(LZTR1):c.2368C>T (p.Arg790Trp) rs767637944 0.00002
NM_006767.4(LZTR1):c.2463dup (p.Asp822fs) rs781251567 0.00002
NM_006767.4(LZTR1):c.344C>T (p.Pro115Leu) rs756852884 0.00002
NM_006767.4(LZTR1):c.613A>G (p.Ile205Val) rs1046322896 0.00002
NM_006767.4(LZTR1):c.635T>G (p.Leu212Arg) rs138301732 0.00002
NM_006767.4(LZTR1):c.905C>T (p.Ala302Val) rs765881289 0.00002
NM_001042492.3(NF1):c.1004A>G (p.Asn335Ser) rs758212945 0.00001
NM_001042492.3(NF1):c.1048G>A (p.Val350Met) rs1185636269 0.00001
NM_001042492.3(NF1):c.1130T>C (p.Ile377Thr) rs878853863 0.00001
NM_001042492.3(NF1):c.1138C>T (p.Leu380Phe) rs1426127948 0.00001
NM_001042492.3(NF1):c.1156A>G (p.Ile386Val) rs779930387 0.00001
NM_001042492.3(NF1):c.1357G>A (p.Gly453Ser) rs1273060925 0.00001
NM_001042492.3(NF1):c.1369C>T (p.His457Tyr) rs757560526 0.00001
NM_001042492.3(NF1):c.1413A>G (p.Lys471=) rs1309932338 0.00001
NM_001042492.3(NF1):c.1444A>G (p.Thr482Ala) rs770201871 0.00001
NM_001042492.3(NF1):c.1472A>G (p.Tyr491Cys) rs199474757 0.00001
NM_001042492.3(NF1):c.1573T>A (p.Leu525Ile) rs2066875204 0.00001
NM_001042492.3(NF1):c.1722-5T>C rs1458980212 0.00001
NM_001042492.3(NF1):c.1736T>G (p.Phe579Cys) rs1398363349 0.00001
NM_001042492.3(NF1):c.1769T>C (p.Met590Thr) rs761559887 0.00001
NM_001042492.3(NF1):c.17C>G (p.Pro6Arg) rs864622210 0.00001
NM_001042492.3(NF1):c.1849G>A (p.Ala617Thr) rs1131691135 0.00001
NM_001042492.3(NF1):c.1904C>T (p.Pro635Leu) rs1597710514 0.00001
NM_001042492.3(NF1):c.1907C>G (p.Ser636Cys) rs780412565 0.00001
NM_001042492.3(NF1):c.2045A>C (p.Gln682Pro) rs1304889984 0.00001
NM_001042492.3(NF1):c.2065G>A (p.Val689Met) rs771784652 0.00001
NM_001042492.3(NF1):c.2132G>A (p.Arg711His) rs1479669686 0.00001
NM_001042492.3(NF1):c.2156T>C (p.Ile719Thr) rs754025938 0.00001
NM_001042492.3(NF1):c.2159G>A (p.Arg720Gln) rs1350468182 0.00001
NM_001042492.3(NF1):c.2189A>C (p.Asn730Thr) rs778033578 0.00001
NM_001042492.3(NF1):c.2293C>T (p.Arg765Cys) rs1383770460 0.00001
NM_001042492.3(NF1):c.2345C>G (p.Ala782Gly) rs1203924788 0.00001
NM_001042492.3(NF1):c.2378A>C (p.Asn793Thr) rs772543826 0.00001
NM_001042492.3(NF1):c.2409+2T>C rs876660826 0.00001
NM_001042492.3(NF1):c.2447G>A (p.Arg816Gln) rs762709897 0.00001
NM_001042492.3(NF1):c.256A>G (p.Ile86Val) rs757057811 0.00001
NM_001042492.3(NF1):c.2618G>A (p.Arg873His) rs949092641 0.00001
NM_001042492.3(NF1):c.2624G>T (p.Gly875Val) rs1060500361 0.00001
NM_001042492.3(NF1):c.2666C>G (p.Thr889Arg) rs369912079 0.00001
NM_001042492.3(NF1):c.2689C>T (p.Arg897Trp) rs775949348 0.00001
NM_001042492.3(NF1):c.2690G>A (p.Arg897Gln) rs863224658 0.00001
NM_001042492.3(NF1):c.2740C>T (p.Arg914Trp) rs765848298 0.00001
NM_001042492.3(NF1):c.2741G>A (p.Arg914Gln) rs776447057 0.00001
NM_001042492.3(NF1):c.2749G>A (p.Val917Ile) rs752455591 0.00001
NM_001042492.3(NF1):c.2765G>A (p.Gly922Asp) rs1378141985 0.00001
NM_001042492.3(NF1):c.2794A>G (p.Met932Val) rs886052800 0.00001
NM_001042492.3(NF1):c.2795T>C (p.Met932Thr) rs876659779 0.00001
NM_001042492.3(NF1):c.2809T>G (p.Leu937Val) rs1567849181 0.00001
NM_001042492.3(NF1):c.2825G>A (p.Ser942Asn) rs1555614350 0.00001
NM_001042492.3(NF1):c.2850+5A>T rs864622633 0.00001
NM_001042492.3(NF1):c.289-3T>C rs1461646186 0.00001
NM_001042492.3(NF1):c.289-4T>G rs1258767746 0.00001
NM_001042492.3(NF1):c.2963T>C (p.Ile988Thr) rs746670929 0.00001
NM_001042492.3(NF1):c.2968A>C (p.Thr990Pro) rs876658299 0.00001
NM_001042492.3(NF1):c.2971A>G (p.Met991Val) rs1268543864 0.00001
NM_001042492.3(NF1):c.2998C>T (p.Arg1000Cys) rs367684252 0.00001
NM_001042492.3(NF1):c.304A>G (p.Met102Val) rs756370324 0.00001
NM_001042492.3(NF1):c.3062T>G (p.Val1021Gly) rs1355411201 0.00001
NM_001042492.3(NF1):c.3079G>A (p.Asp1027Asn) rs774066804 0.00001
NM_001042492.3(NF1):c.3166G>A (p.Ala1056Thr) rs776907522 0.00001
NM_001042492.3(NF1):c.3197+3A>G rs1359512152 0.00001
NM_001042492.3(NF1):c.3315-5C>T rs1266211447 0.00001
NM_001042492.3(NF1):c.3330T>A (p.Phe1110Leu) rs1256152851 0.00001
NM_001042492.3(NF1):c.3359T>C (p.Val1120Ala) rs751571517 0.00001
NM_001042492.3(NF1):c.3394C>T (p.Arg1132Cys) rs587781725 0.00001
NM_001042492.3(NF1):c.3469G>A (p.Val1157Ile) rs375845704 0.00001
NM_001042492.3(NF1):c.3485T>G (p.Met1162Arg) rs200732832 0.00001
NM_001042492.3(NF1):c.348A>T (p.Glu116Asp) rs1231174547 0.00001
NM_001042492.3(NF1):c.3527G>T (p.Arg1176Ile) rs1227027709 0.00001
NM_001042492.3(NF1):c.3586C>T (p.Leu1196Phe) rs1555615039 0.00001
NM_001042492.3(NF1):c.3590C>G (p.Ala1197Gly) rs370820478 0.00001
NM_001042492.3(NF1):c.3694C>T (p.Pro1232Ser) rs1482085668 0.00001
NM_001042492.3(NF1):c.3748C>T (p.Arg1250Trp) rs1452005208 0.00001
NM_001042492.3(NF1):c.3778A>G (p.Met1260Val) rs1264981144 0.00001
NM_001042492.3(NF1):c.37G>A (p.Val13Met) rs1060500261 0.00001
NM_001042492.3(NF1):c.3811A>G (p.Met1271Val) rs746583007 0.00001
NM_001042492.3(NF1):c.3845G>A (p.Ser1282Asn) rs1328592308 0.00001
NM_001042492.3(NF1):c.386A>G (p.Gln129Arg) rs1060500250 0.00001
NM_001042492.3(NF1):c.3911T>C (p.Leu1304Ser) rs761512189 0.00001
NM_001042492.3(NF1):c.3948T>A (p.His1316Gln) rs1418340346 0.00001
NM_001042492.3(NF1):c.3962T>C (p.Val1321Ala) rs1060500337 0.00001
NM_001042492.3(NF1):c.3989A>C (p.Glu1330Ala) rs1256727206 0.00001
NM_001042492.3(NF1):c.4010G>T (p.Arg1337Leu) rs1060500379 0.00001
NM_001042492.3(NF1):c.4024A>G (p.Met1342Val) rs1597735093 0.00001
NM_001042492.3(NF1):c.403C>T (p.Arg135Trp) rs775191883 0.00001
NM_001042492.3(NF1):c.4046C>A (p.Ala1349Asp) rs1229215269 0.00001
NM_001042492.3(NF1):c.404G>A (p.Arg135Gln) rs1060500244 0.00001
NM_001042492.3(NF1):c.4097A>T (p.His1366Leu) rs769042915 0.00001
NM_001042492.3(NF1):c.4098C>G (p.His1366Gln) rs1555617377 0.00001
NM_001042492.3(NF1):c.410C>G (p.Ser137Cys) rs1597635932 0.00001
NM_001042492.3(NF1):c.4187G>A (p.Arg1396His) rs368685980 0.00001
NM_001042492.3(NF1):c.4190T>A (p.Phe1397Tyr) rs768223279 0.00001
NM_001042492.3(NF1):c.4201A>T (p.Ser1401Cys) rs1060500310 0.00001
NM_001042492.3(NF1):c.4225A>G (p.Met1409Val) rs1060500369 0.00001
NM_001042492.3(NF1):c.4244A>G (p.Asn1415Ser) rs1406169018 0.00001
NM_001042492.3(NF1):c.4262C>A (p.Pro1421Gln) rs753997885 0.00001
NM_001042492.3(NF1):c.4333-4G>A rs372709098 0.00001
NM_001042492.3(NF1):c.4382T>C (p.Met1461Thr) rs754639587 0.00001
NM_001042492.3(NF1):c.4384C>T (p.Arg1462Trp) rs876658127 0.00001
NM_001042492.3(NF1):c.4460C>T (p.Pro1487Leu) rs2067663223 0.00001
NM_001042492.3(NF1):c.4495A>G (p.Ile1499Val) rs764654925 0.00001
NM_001042492.3(NF1):c.451A>C (p.Asn151His) rs769391944 0.00001
NM_001042492.3(NF1):c.452A>G (p.Asn151Ser) rs1567817981 0.00001
NM_001042492.3(NF1):c.4577+3A>G rs1060500246 0.00001
NM_001042492.3(NF1):c.4578G>A (p.Arg1526=) rs1356757316 0.00001
NM_001042492.3(NF1):c.4601G>A (p.Arg1534Gln) rs867955218 0.00001
NM_001042492.3(NF1):c.4655A>G (p.Lys1552Arg) rs1172780277 0.00001
NM_001042492.3(NF1):c.467G>A (p.Arg156His) rs754096545 0.00001
NM_001042492.3(NF1):c.4690C>T (p.Leu1564Phe) rs1427435078 0.00001
NM_001042492.3(NF1):c.4736A>G (p.His1579Arg) rs1275751975 0.00001
NM_001042492.3(NF1):c.4793C>A (p.Thr1598Asn) rs753453385 0.00001
NM_001042492.3(NF1):c.4870A>G (p.Ile1624Val) rs1555533280 0.00001
NM_001042492.3(NF1):c.4939C>T (p.His1647Tyr) rs2069328243 0.00001
NM_001042492.3(NF1):c.4945G>A (p.Gly1649Arg) rs770124316 0.00001
NM_001042492.3(NF1):c.5026G>A (p.Ala1676Thr) rs756450772 0.00001
NM_001042492.3(NF1):c.5079T>G (p.His1693Gln) rs1555533365 0.00001
NM_001042492.3(NF1):c.5087T>C (p.Leu1696Pro) rs745489489 0.00001
NM_001042492.3(NF1):c.5098C>T (p.Leu1700Phe) rs775786295 0.00001
NM_001042492.3(NF1):c.5115G>C (p.Arg1705Ser) rs749669269 0.00001
NM_001042492.3(NF1):c.5116C>T (p.Leu1706Phe) rs769087878 0.00001
NM_001042492.3(NF1):c.5125A>G (p.Ile1709Val) rs774720054 0.00001
NM_001042492.3(NF1):c.5167C>G (p.Gln1723Glu) rs766727694 0.00001
NM_001042492.3(NF1):c.5183C>T (p.Ala1728Val) rs1555533395 0.00001
NM_001042492.3(NF1):c.5270T>C (p.Val1757Ala) rs1021835871 0.00001
NM_001042492.3(NF1):c.5293A>G (p.Thr1765Ala) rs747584987 0.00001
NM_001042492.3(NF1):c.5351A>T (p.Tyr1784Phe) rs1060500280 0.00001
NM_001042492.3(NF1):c.5468C>G (p.Ser1823Cys) rs1597832156 0.00001
NM_001042492.3(NF1):c.5509G>A (p.Asp1837Asn) rs771597781 0.00001
NM_001042492.3(NF1):c.550A>C (p.Asn184His) rs1555607101 0.00001
NM_001042492.3(NF1):c.5610-4C>G rs1419030713 0.00001
NM_001042492.3(NF1):c.5941A>G (p.Met1981Val) rs762935987 0.00001
NM_001042492.3(NF1):c.5951A>G (p.Asn1984Ser) rs764291252 0.00001
NM_001042492.3(NF1):c.607G>T (p.Ala203Ser) rs904361724 0.00001
NM_001042492.3(NF1):c.6262C>G (p.Leu2088Val) rs752569823 0.00001
NM_001042492.3(NF1):c.631G>A (p.Ala211Thr) rs781519491 0.00001
NM_001042492.3(NF1):c.6334G>A (p.Ala2112Thr) rs749672954 0.00001
NM_001042492.3(NF1):c.6377T>C (p.Val2126Ala) rs1597843145 0.00001
NM_001042492.3(NF1):c.6449G>C (p.Arg2150Thr) rs2069704009 0.00001
NM_001042492.3(NF1):c.6468C>G (p.Phe2156Leu) rs768464936 0.00001
NM_001042492.3(NF1):c.6646T>A (p.Cys2216Ser) rs757736155 0.00001
NM_001042492.3(NF1):c.6667T>C (p.Cys2223Arg) rs1192120725 0.00001
NM_001042492.3(NF1):c.6761G>A (p.Cys2254Tyr) rs1361250850 0.00001
NM_001042492.3(NF1):c.6773G>A (p.Arg2258Gln) rs786202030 0.00001
NM_001042492.3(NF1):c.6785G>A (p.Gly2262Glu) rs997781719 0.00001
NM_001042492.3(NF1):c.6790A>T (p.Ile2264Leu) rs761213794 0.00001
NM_001042492.3(NF1):c.680A>T (p.Tyr227Phe) rs1555608742 0.00001
NM_001042492.3(NF1):c.6839A>G (p.Lys2280Arg) rs773858629 0.00001
NM_001042492.3(NF1):c.7009C>T (p.Leu2337Phe) rs367734104 0.00001
NM_001042492.3(NF1):c.7039A>G (p.Ser2347Gly) rs1060500318 0.00001
NM_001042492.3(NF1):c.7045C>T (p.Arg2349Cys) rs56013763 0.00001
NM_001042492.3(NF1):c.7080T>A (p.Phe2360Leu) rs2069866250 0.00001
NM_001042492.3(NF1):c.7091G>A (p.Arg2364Gln) rs1555535407 0.00001
NM_001042492.3(NF1):c.7135G>A (p.Gly2379Arg) rs775476318 0.00001
NM_001042492.3(NF1):c.7142A>G (p.Asn2381Ser) rs878853912 0.00001
NM_001042492.3(NF1):c.7148A>G (p.Asn2383Ser) rs146296921 0.00001
NM_001042492.3(NF1):c.7211C>T (p.Ala2404Val) rs771706364 0.00001
NM_001042492.3(NF1):c.7253C>T (p.Thr2418Ile) rs764022114 0.00001
NM_001042492.3(NF1):c.731-5T>C rs1597659721 0.00001
NM_001042492.3(NF1):c.732A>C (p.Glu244Asp) rs1567826603 0.00001
NM_001042492.3(NF1):c.7370A>G (p.His2457Arg) rs863224664 0.00001
NM_001042492.3(NF1):c.7397T>C (p.Ile2466Thr) rs771915484 0.00001
NM_001042492.3(NF1):c.7432A>G (p.Ile2478Val) rs759307070 0.00001
NM_001042492.3(NF1):c.7454A>G (p.Tyr2485Cys) rs1022605462 0.00001
NM_001042492.3(NF1):c.7493A>G (p.Lys2498Arg) rs1269264795 0.00001
NM_001042492.3(NF1):c.7496G>T (p.Gly2499Val) rs375176282 0.00001
NM_001042492.3(NF1):c.7513G>A (p.Ala2505Thr) rs786202955 0.00001
NM_001042492.3(NF1):c.7525C>T (p.Pro2509Ser) rs886052803 0.00001
NM_001042492.3(NF1):c.7552G>A (p.Ala2518Thr) rs1567625163 0.00001
NM_001042492.3(NF1):c.7585C>T (p.Pro2529Ser) rs1555536370 0.00001
NM_001042492.3(NF1):c.7675A>G (p.Met2559Val) rs779373258 0.00001
NM_001042492.3(NF1):c.7780C>T (p.Arg2594Cys) rs372787215 0.00001
NM_001042492.3(NF1):c.7793T>C (p.Val2598Ala) rs760531845 0.00001
NM_001042492.3(NF1):c.7810C>G (p.Leu2604Val) rs776602307 0.00001
NM_001042492.3(NF1):c.7822G>C (p.Glu2608Gln) rs1597866487 0.00001
NM_001042492.3(NF1):c.7837C>T (p.Pro2613Ser) rs138839077 0.00001
NM_001042492.3(NF1):c.7876C>G (p.Leu2626Val) rs1555536748 0.00001
NM_001042492.3(NF1):c.7889C>G (p.Thr2630Ser) rs1283946778 0.00001
NM_001042492.3(NF1):c.7891A>G (p.Thr2631Ala) rs199474793 0.00001
NM_001042492.3(NF1):c.7897G>A (p.Glu2633Lys) rs750754640 0.00001
NM_001042492.3(NF1):c.7901T>C (p.Phe2634Ser) rs756567782 0.00001
NM_001042492.3(NF1):c.7931C>G (p.Ala2644Gly) rs766494934 0.00001
NM_001042492.3(NF1):c.7943T>G (p.Val2648Gly) rs1487025591 0.00001
NM_001042492.3(NF1):c.8012T>C (p.Leu2671Ser) rs1207124870 0.00001
NM_001042492.3(NF1):c.824T>C (p.Ile275Thr) rs1406698961 0.00001
NM_001042492.3(NF1):c.8324A>G (p.Asn2775Ser) rs772090874 0.00001
NM_001042492.3(NF1):c.8377+4A>G rs1224454019 0.00001
NM_001042492.3(NF1):c.8378G>C (p.Gly2793Ala) rs1275285522 0.00001
NM_001042492.3(NF1):c.8423G>C (p.Cys2808Ser) rs148473245 0.00001
NM_001042492.3(NF1):c.844C>A (p.Gln282Lys) rs753054046 0.00001
NM_001042492.3(NF1):c.845A>G (p.Gln282Arg) rs779034900 0.00001
NM_001042492.3(NF1):c.8500A>G (p.Ser2834Gly) rs764858484 0.00001
NM_001042492.3(NF1):c.853T>G (p.Ser285Ala) rs1555608981 0.00001
NM_001042492.3(NF1):c.890A>G (p.Lys297Arg) rs1219929525 0.00001
NM_001042492.3(NF1):c.911G>A (p.Arg304Gln) rs76015786 0.00001
NM_006767.4(LZTR1):c.-38T>A rs1459786357 0.00001
NM_006767.4(LZTR1):c.1001G>C (p.Gly334Ala) rs777494767 0.00001
NM_006767.4(LZTR1):c.1067T>C (p.Val356Ala) rs777546040 0.00001
NM_006767.4(LZTR1):c.1104C>G (p.Asp368Glu) rs1271934002 0.00001
NM_006767.4(LZTR1):c.1149+3A>G rs542715642 0.00001
NM_006767.4(LZTR1):c.118T>C (p.Tyr40His) rs146436209 0.00001
NM_006767.4(LZTR1):c.1210G>A (p.Gly404Arg) rs1470449160 0.00001
NM_006767.4(LZTR1):c.1260+1G>A rs143868364 0.00001
NM_006767.4(LZTR1):c.1283C>T (p.Thr428Met) rs1253225013 0.00001
NM_006767.4(LZTR1):c.1304G>A (p.Arg435Gln) rs1157807812 0.00001
NM_006767.4(LZTR1):c.1330G>A (p.Asp444Asn) rs775051211 0.00001
NM_006767.4(LZTR1):c.1353+5G>A rs544140578 0.00001
NM_006767.4(LZTR1):c.1354-5T>A rs368421766 0.00001
NM_006767.4(LZTR1):c.1387G>A (p.Val463Ile) rs1269398431 0.00001
NM_006767.4(LZTR1):c.1411C>T (p.Arg471Cys) rs1366650212 0.00001
NM_006767.4(LZTR1):c.1432C>T (p.Arg478Trp) rs150365548 0.00001
NM_006767.4(LZTR1):c.1469C>A (p.Ala490Asp) rs751255482 0.00001
NM_006767.4(LZTR1):c.1492G>A (p.Gly498Ser) rs779080464 0.00001
NM_006767.4(LZTR1):c.1519C>T (p.Pro507Ser) rs1461135179 0.00001
NM_006767.4(LZTR1):c.1520C>T (p.Pro507Leu) rs983395423 0.00001
NM_006767.4(LZTR1):c.1541G>A (p.Arg514Gln) rs201687217 0.00001
NM_006767.4(LZTR1):c.1570C>T (p.Leu524Phe) rs1268689557 0.00001
NM_006767.4(LZTR1):c.1609C>T (p.Arg537Trp) rs754507552 0.00001
NM_006767.4(LZTR1):c.1615G>A (p.Gly539Ser) rs1232362523 0.00001
NM_006767.4(LZTR1):c.1621G>A (p.Val541Met) rs1009167232 0.00001
NM_006767.4(LZTR1):c.1624G>A (p.Glu542Lys) rs745516367 0.00001
NM_006767.4(LZTR1):c.1717T>C (p.Ser573Pro) rs1269824662 0.00001
NM_006767.4(LZTR1):c.1735G>A (p.Val579Met) rs765416902 0.00001
NM_006767.4(LZTR1):c.1786G>A (p.Glu596Lys) rs1035245166 0.00001
NM_006767.4(LZTR1):c.1842G>A (p.Met614Ile) rs763044573 0.00001
NM_006767.4(LZTR1):c.1874T>C (p.Ile625Thr) rs757928335 0.00001
NM_006767.4(LZTR1):c.1889G>A (p.Arg630Gln) rs781776791 0.00001
NM_006767.4(LZTR1):c.1892G>A (p.Arg631Gln) rs372970613 0.00001
NM_006767.4(LZTR1):c.1894A>C (p.Lys632Gln) rs1353029152 0.00001
NM_006767.4(LZTR1):c.1907C>T (p.Pro636Leu) rs553579098 0.00001
NM_006767.4(LZTR1):c.1912C>T (p.Arg638Cys) rs1213535694 0.00001
NM_006767.4(LZTR1):c.1919C>T (p.Pro640Leu) rs866139168 0.00001
NM_006767.4(LZTR1):c.1934T>G (p.Val645Gly) rs1190268151 0.00001
NM_006767.4(LZTR1):c.1964T>C (p.Met655Thr) rs199696566 0.00001
NM_006767.4(LZTR1):c.1982G>A (p.Gly661Glu) rs750582696 0.00001
NM_006767.4(LZTR1):c.2002G>T (p.Asp668Tyr) rs776005012 0.00001
NM_006767.4(LZTR1):c.2033G>A (p.Arg678Gln) rs752699291 0.00001
NM_006767.4(LZTR1):c.2044A>G (p.Lys682Glu) rs758472207 0.00001
NM_006767.4(LZTR1):c.2059G>A (p.Ala687Thr) rs780915875 0.00001
NM_006767.4(LZTR1):c.2069+3G>T rs1924822444 0.00001
NM_006767.4(LZTR1):c.2069G>C (p.Ser690Thr) rs774921494 0.00001
NM_006767.4(LZTR1):c.2071T>C (p.Tyr691His) rs1924826632 0.00001
NM_006767.4(LZTR1):c.2075T>C (p.Phe692Ser) rs766752047 0.00001
NM_006767.4(LZTR1):c.2098A>G (p.Met700Val) rs755871821 0.00001
NM_006767.4(LZTR1):c.2101C>T (p.Pro701Ser) rs1215936951 0.00001
NM_006767.4(LZTR1):c.2138T>C (p.Met713Thr) rs371920401 0.00001
NM_006767.4(LZTR1):c.2161G>A (p.Glu721Lys) rs570948606 0.00001
NM_006767.4(LZTR1):c.2188G>A (p.Gly730Ser) rs199625022 0.00001
NM_006767.4(LZTR1):c.2220-5C>T rs979427939 0.00001
NM_006767.4(LZTR1):c.2246A>G (p.Tyr749Cys) rs755260815 0.00001
NM_006767.4(LZTR1):c.2278T>C (p.Cys760Arg) rs1419388177 0.00001
NM_006767.4(LZTR1):c.2296A>G (p.Met766Val) rs766793703 0.00001
NM_006767.4(LZTR1):c.2309T>C (p.Val770Ala) rs752880731 0.00001
NM_006767.4(LZTR1):c.2343C>G (p.Asp781Glu) rs763193690 0.00001
NM_006767.4(LZTR1):c.2406+1G>A rs770322736 0.00001
NM_006767.4(LZTR1):c.2407-2A>G rs1158550690 0.00001
NM_006767.4(LZTR1):c.2456A>C (p.Asp819Ala) rs765969026 0.00001
NM_006767.4(LZTR1):c.2471T>C (p.Leu824Pro) rs752239353 0.00001
NM_006767.4(LZTR1):c.2487dup (p.Asp830fs) rs745630993 0.00001
NM_006767.4(LZTR1):c.2500G>A (p.Ala834Thr) rs894106897 0.00001
NM_006767.4(LZTR1):c.2512G>A (p.Ala838Thr) rs749366666 0.00001
NM_006767.4(LZTR1):c.260A>G (p.Asn87Ser) rs971970608 0.00001
NM_006767.4(LZTR1):c.321-5C>G rs758140794 0.00001
NM_006767.4(LZTR1):c.361C>T (p.His121Tyr) rs1569154492 0.00001
NM_006767.4(LZTR1):c.365C>T (p.Ser122Leu) rs587777177 0.00001
NM_006767.4(LZTR1):c.400+3A>G rs371956748 0.00001
NM_006767.4(LZTR1):c.47T>C (p.Leu16Pro) rs578100969 0.00001
NM_006767.4(LZTR1):c.533A>G (p.His178Arg) rs775028367 0.00001
NM_006767.4(LZTR1):c.539C>T (p.Ala180Val) rs1404043176 0.00001
NM_006767.4(LZTR1):c.542C>T (p.Thr181Met) rs774992323 0.00001
NM_006767.4(LZTR1):c.548A>T (p.Tyr183Phe) rs538624569 0.00001
NM_006767.4(LZTR1):c.55G>C (p.Gly19Arg) rs375788038 0.00001
NM_006767.4(LZTR1):c.589G>A (p.Ala197Thr) rs371522487 0.00001
NM_006767.4(LZTR1):c.59C>T (p.Ala20Val) rs770762358 0.00001
NM_006767.4(LZTR1):c.614T>C (p.Ile205Thr) rs1287917092 0.00001
NM_006767.4(LZTR1):c.689A>G (p.Asn230Ser) rs752439876 0.00001
NM_006767.4(LZTR1):c.704T>C (p.Val235Ala) rs1413588941 0.00001
NM_006767.4(LZTR1):c.73G>T (p.Ala25Ser) rs780281625 0.00001
NM_006767.4(LZTR1):c.784G>A (p.Asp262Asn) rs772266158 0.00001
NM_006767.4(LZTR1):c.791C>T (p.Thr264Met) rs775102121 0.00001
NM_006767.4(LZTR1):c.820C>T (p.Leu274Phe) rs1200675291 0.00001
NM_006767.4(LZTR1):c.836C>T (p.Pro279Leu) rs373707826 0.00001
NM_006767.4(LZTR1):c.856G>A (p.Gly286Arg) rs773016962 0.00001
NM_000267.3:c.8455_8456insALU
NM_001042492.3(NF1):c.-2A>G rs876659342
NM_001042492.3(NF1):c.-4G>A
NM_001042492.3(NF1):c.1002C>G (p.Ile334Met) rs2143873647
NM_001042492.3(NF1):c.1024A>G (p.Ile342Val) rs2066509214
NM_001042492.3(NF1):c.1024A>T (p.Ile342Phe)
NM_001042492.3(NF1):c.1029C>G (p.Phe343Leu)
NM_001042492.3(NF1):c.1033C>G (p.Leu345Val)
NM_001042492.3(NF1):c.1033C>T (p.Leu345Phe)
NM_001042492.3(NF1):c.1037T>C (p.Val346Ala) rs1597681117
NM_001042492.3(NF1):c.1040A>T (p.Gln347Leu) rs1597681131
NM_001042492.3(NF1):c.1042T>C (p.Ser348Pro) rs864622064
NM_001042492.3(NF1):c.1045A>G (p.Met349Val) rs776050648
NM_001042492.3(NF1):c.1050G>A (p.Val350=)
NM_001042492.3(NF1):c.1051G>T (p.Val351Phe) rs1597681173
NM_001042492.3(NF1):c.1052T>C (p.Val351Ala) rs878853861
NM_001042492.3(NF1):c.1062+2T>G rs2066510391
NM_001042492.3(NF1):c.1062+5C>T rs1555610916
NM_001042492.3(NF1):c.1067T>C (p.Leu356Pro)
NM_001042492.3(NF1):c.1069C>T (p.Leu357Phe) rs1567835662
NM_001042492.3(NF1):c.1078C>T (p.Pro360Ser) rs1597681902
NM_001042492.3(NF1):c.107C>T (p.Thr36Ile) rs199966218
NM_001042492.3(NF1):c.1081A>G (p.Ser361Gly)
NM_001042492.3(NF1):c.1085A>G (p.Lys362Arg) rs1555610976
NM_001042492.3(NF1):c.1094C>T (p.Ser365Leu)
NM_001042492.3(NF1):c.1099G>A (p.Gly367Ser)
NM_001042492.3(NF1):c.1103G>A (p.Ser368Asn) rs1597681975
NM_001042492.3(NF1):c.1108C>A (p.Pro370Thr)
NM_001042492.3(NF1):c.1108C>T (p.Pro370Ser) rs878853862
NM_001042492.3(NF1):c.1123C>A (p.Leu375Ile)
NM_001042492.3(NF1):c.1128G>A (p.Met376Ile) rs2143879572
NM_001042492.3(NF1):c.1128G>T (p.Met376Ile)
NM_001042492.3(NF1):c.1137C>G (p.Cys379Trp)
NM_001042492.3(NF1):c.1153C>G (p.Arg385Gly) rs1322986962
NM_001042492.3(NF1):c.1154G>A (p.Arg385His) rs1350329837
NM_001042492.3(NF1):c.1160G>A (p.Ser387Asn) rs1555611025
NM_001042492.3(NF1):c.1160G>T (p.Ser387Ile)
NM_001042492.3(NF1):c.116A>G (p.Asn39Ser) rs1567814494
NM_001042492.3(NF1):c.1182T>G (p.Phe394Leu) rs786202581
NM_001042492.3(NF1):c.1186A>C (p.Ile396Leu) rs1413735911
NM_001042492.3(NF1):c.1188C>G (p.Ile396Met)
NM_001042492.3(NF1):c.1190G>A (p.Cys397Tyr)
NM_001042492.3(NF1):c.1190G>T (p.Cys397Phe) rs786201937
NM_001042492.3(NF1):c.1192C>G (p.Leu398Val)
NM_001042492.3(NF1):c.1193T>A (p.Leu398Gln)
NM_001042492.3(NF1):c.119A>G (p.Lys40Arg)
NM_001042492.3(NF1):c.1200G>C (p.Gln400His) rs2066527837
NM_001042492.3(NF1):c.1211C>A (p.Ser404Tyr) rs1597682758
NM_001042492.3(NF1):c.1222T>G (p.Tyr408Asp) rs2066528210
NM_001042492.3(NF1):c.1225G>A (p.Val409Met) rs2143886228
NM_001042492.3(NF1):c.1231G>A (p.Val411Ile) rs199703072
NM_001042492.3(NF1):c.1238C>T (p.Ser413Leu)
NM_001042492.3(NF1):c.1252A>G (p.Ile418Val) rs1597682898
NM_001042492.3(NF1):c.1258A>G (p.Asn420Asp)
NM_001042492.3(NF1):c.1259A>G (p.Asn420Ser) rs1555611107
NM_001042492.3(NF1):c.1260+3A>G
NM_001042492.3(NF1):c.1261-3T>C
NM_001042492.3(NF1):c.1261T>G (p.Ser421Ala) rs878853864
NM_001042492.3(NF1):c.1264G>T (p.Ala422Ser) rs786202145
NM_001042492.3(NF1):c.1268T>G (p.Leu423Trp)
NM_001042492.3(NF1):c.1273T>C (p.Trp425Arg)
NM_001042492.3(NF1):c.1274G>C (p.Trp425Ser) rs1597688734
NM_001042492.3(NF1):c.1282A>G (p.Lys428Glu) rs1597688751
NM_001042492.3(NF1):c.1291G>A (p.Ala431Thr) rs2066619337
NM_001042492.3(NF1):c.1298A>T (p.Tyr433Phe)
NM_001042492.3(NF1):c.1303C>T (p.His435Tyr)
NM_001042492.3(NF1):c.1304A>G (p.His435Arg) rs1555611571
NM_001042492.3(NF1):c.1307C>T (p.Ser436Leu) rs755190083
NM_001042492.3(NF1):c.1309G>T (p.Val437Phe) rs1555611574
NM_001042492.3(NF1):c.130A>G (p.Ile44Val) rs1597625982
NM_001042492.3(NF1):c.1315C>T (p.Leu439Phe)
NM_001042492.3(NF1):c.1316T>G (p.Leu439Arg)
NM_001042492.3(NF1):c.1319G>C (p.Arg440Pro)
NM_001042492.3(NF1):c.1325T>C (p.Met442Thr) rs1555611580
NM_001042492.3(NF1):c.1331G>A (p.Gly444Asp) rs1555611582
NM_001042492.3(NF1):c.1342C>T (p.His448Tyr) rs1131691257
NM_001042492.3(NF1):c.1347A>C (p.Lys449Asn) rs2143914827
NM_001042492.3(NF1):c.1348G>A (p.Ala450Thr) rs2143914842
NM_001042492.3(NF1):c.1352T>G (p.Val451Gly) rs747466938
NM_001042492.3(NF1):c.1355A>T (p.Gln452Leu) rs2066621372
NM_001042492.3(NF1):c.1356A>C (p.Gln452His) rs1324833228
NM_001042492.3(NF1):c.1358G>C (p.Gly453Ala)
NM_001042492.3(NF1):c.1367C>T (p.Ala456Val) rs1597688962
NM_001042492.3(NF1):c.1372C>G (p.Pro458Ala) rs1597688990
NM_001042492.3(NF1):c.1372C>T (p.Pro458Ser)
NM_001042492.3(NF1):c.1373C>A (p.Pro458Gln) rs781555047
NM_001042492.3(NF1):c.1373C>T (p.Pro458Leu) rs781555047
NM_001042492.3(NF1):c.1376C>T (p.Ala459Val) rs1131691070
NM_001042492.3(NF1):c.1379T>C (p.Ile460Thr) rs147417054
NM_001042492.3(NF1):c.1382G>A (p.Arg461Gln) rs1555611606
NM_001042492.3(NF1):c.1382G>T (p.Arg461Leu) rs1555611606
NM_001042492.3(NF1):c.1386G>A (p.Met462Ile)
NM_001042492.3(NF1):c.1387G>C (p.Ala463Pro) rs1555611607
NM_001042492.3(NF1):c.1391C>T (p.Pro464Leu) rs1269425503
NM_001042492.3(NF1):c.1392+4A>G rs1555611611
NM_001042492.3(NF1):c.13A>G (p.Arg5Gly) rs1598173775
NM_001042492.3(NF1):c.13A>T (p.Arg5Trp) rs1598173775
NM_001042492.3(NF1):c.1400C>T (p.Thr467Ile) rs1567841729
NM_001042492.3(NF1):c.1404T>A (p.Phe468Leu)
NM_001042492.3(NF1):c.1429T>C (p.Phe477Leu) rs1555612276
NM_001042492.3(NF1):c.1431T>A (p.Phe477Leu) rs1555612278
NM_001042492.3(NF1):c.1442C>T (p.Pro481Leu) rs1355572914
NM_001042492.3(NF1):c.1445C>T (p.Thr482Ile) rs1004943800
NM_001042492.3(NF1):c.1447G>A (p.Asp483Asn)
NM_001042492.3(NF1):c.1459A>G (p.Arg487Gly) rs1597698420
NM_001042492.3(NF1):c.145T>C (p.Tyr49His)
NM_001042492.3(NF1):c.1465T>C (p.Tyr489His) rs2066786672
NM_001042492.3(NF1):c.1465T>G (p.Tyr489Asp) rs2066786672
NM_001042492.3(NF1):c.1466A>C (p.Tyr489Ser)
NM_001042492.3(NF1):c.1468A>G (p.Lys490Glu) rs1181298067
NM_001042492.3(NF1):c.1469A>G (p.Lys490Arg) rs1060500260
NM_001042492.3(NF1):c.1478T>G (p.Leu493Arg)
NM_001042492.3(NF1):c.1487T>A (p.Met496Lys)
NM_001042492.3(NF1):c.1489G>A (p.Val497Met)
NM_001042492.3(NF1):c.1490T>A (p.Val497Glu)
NM_001042492.3(NF1):c.1496T>C (p.Leu499Pro) rs1555612288
NM_001042492.3(NF1):c.1496T>G (p.Leu499Arg) rs1555612288
NM_001042492.3(NF1):c.149A>G (p.Lys50Arg) rs1555604907
NM_001042492.3(NF1):c.1502A>T (p.His501Leu) rs1597698479
NM_001042492.3(NF1):c.1503T>G (p.His501Gln)
NM_001042492.3(NF1):c.1504G>C (p.Ala502Pro)
NM_001042492.3(NF1):c.1505C>G (p.Ala502Gly)
NM_001042492.3(NF1):c.150G>T (p.Lys50Asn)
NM_001042492.3(NF1):c.1510C>A (p.Pro504Thr) rs1597698495
NM_001042492.3(NF1):c.1515G>C (p.Lys505Asn)
NM_001042492.3(NF1):c.1522C>A (p.Leu508Ile)
NM_001042492.3(NF1):c.1523T>A (p.Leu508His)
NM_001042492.3(NF1):c.1523T>G (p.Leu508Arg)
NM_001042492.3(NF1):c.1526G>A (p.Cys509Tyr) rs1597698521
NM_001042492.3(NF1):c.1535G>T (p.Arg512Ile)
NM_001042492.3(NF1):c.1546C>A (p.Pro516Thr)
NM_001042492.3(NF1):c.1551A>C (p.Glu517Asp)
NM_001042492.3(NF1):c.1565C>T (p.Thr522Ile)
NM_001042492.3(NF1):c.159G>C (p.Leu53Phe)
NM_001042492.3(NF1):c.1600C>T (p.Pro534Ser) rs1555612858
NM_001042492.3(NF1):c.1611C>A (p.His537Gln) rs1597703539
NM_001042492.3(NF1):c.1614G>A (p.Met538Ile)
NM_001042492.3(NF1):c.1624G>A (p.Ala542Thr)
NM_001042492.3(NF1):c.1633G>T (p.Ala545Ser)
NM_001042492.3(NF1):c.1636A>G (p.Met546Val) rs2066877456
NM_001042492.3(NF1):c.1641+4A>G rs1597703610
NM_001042492.3(NF1):c.1641G>A (p.Glu547=)
NM_001042492.3(NF1):c.1642-5T>A
NM_001042492.3(NF1):c.1642G>T (p.Ala548Ser) rs2066927450
NM_001042492.3(NF1):c.1643C>T (p.Ala548Val) rs1567844997
NM_001042492.3(NF1):c.1652T>C (p.Val551Ala) rs113867817
NM_001042492.3(NF1):c.1657C>A (p.His553Asn)
NM_001042492.3(NF1):c.1666G>C (p.Asp556His)
NM_001042492.3(NF1):c.1667A>G (p.Asp556Gly) rs2144004099
NM_001042492.3(NF1):c.1668T>G (p.Asp556Glu)
NM_001042492.3(NF1):c.1670G>A (p.Ser557Asn) rs1567845046
NM_001042492.3(NF1):c.1675G>A (p.Asp559Asn) rs2144004244
NM_001042492.3(NF1):c.1677T>G (p.Asp559Glu)
NM_001042492.3(NF1):c.1685A>C (p.Asn562Thr) rs1597706709
NM_001042492.3(NF1):c.1696C>G (p.Pro566Ala) rs2066928875
NM_001042492.3(NF1):c.1700T>C (p.Val567Ala) rs2144004648
NM_001042492.3(NF1):c.1702G>C (p.Glu568Gln)
NM_001042492.3(NF1):c.170G>A (p.Gly57Asp) rs1555604925
NM_001042492.3(NF1):c.1720A>G (p.Ser574Gly)
NM_001042492.3(NF1):c.172C>G (p.Leu58Val)
NM_001042492.3(NF1):c.1747A>G (p.Lys583Glu)
NM_001042492.3(NF1):c.1755A>C (p.Leu585Phe)
NM_001042492.3(NF1):c.1757C>G (p.Thr586Ser)
NM_001042492.3(NF1):c.1759A>C (p.Ser587Arg) rs1597708695
NM_001042492.3(NF1):c.1759A>G (p.Ser587Gly) rs1597708695
NM_001042492.3(NF1):c.1762C>T (p.His588Tyr)
NM_001042492.3(NF1):c.1767A>T (p.Gln589His)
NM_001042492.3(NF1):c.1771C>G (p.Leu591Val) rs767247726
NM_001042492.3(NF1):c.1778G>A (p.Ser593Asn) rs2066963100
NM_001042492.3(NF1):c.1778G>T (p.Ser593Ile)
NM_001042492.3(NF1):c.1789C>T (p.Leu597Phe) rs2066963329
NM_001042492.3(NF1):c.179C>G (p.Thr60Ser) rs1007047958
NM_001042492.3(NF1):c.179C>T (p.Thr60Ile)
NM_001042492.3(NF1):c.17C>A (p.Pro6Gln)
NM_001042492.3(NF1):c.17C>T (p.Pro6Leu) rs864622210
NM_001042492.3(NF1):c.1802G>A (p.Arg601Gln) rs1060500288
NM_001042492.3(NF1):c.1805A>T (p.Glu602Val) rs1597708772
NM_001042492.3(NF1):c.1817G>A (p.Cys606Tyr)
NM_001042492.3(NF1):c.1817G>T (p.Cys606Phe)
NM_001042492.3(NF1):c.1818C>T (p.Cys606=) rs1567845937
NM_001042492.3(NF1):c.1845+5G>A
NM_001042492.3(NF1):c.1846-3T>C rs1555613541
NM_001042492.3(NF1):c.1846C>G (p.Gln616Glu) rs1555613543
NM_001042492.3(NF1):c.1852G>A (p.Asp618Asn)
NM_001042492.3(NF1):c.1855A>G (p.Arg619Gly) rs587781821
NM_001042492.3(NF1):c.1859G>A (p.Ser620Asn) rs1597710354
NM_001042492.3(NF1):c.1864T>G (p.Cys622Gly)
NM_001042492.3(NF1):c.1867C>T (p.His623Tyr) rs759555122
NM_001042492.3(NF1):c.1868A>G (p.His623Arg) rs1555613555
NM_001042492.3(NF1):c.1871T>C (p.Phe624Ser) rs1597710397
NM_001042492.3(NF1):c.1877T>C (p.Leu626Pro) rs752591958
NM_001042492.3(NF1):c.1888G>A (p.Val630Ile) rs751795238
NM_001042492.3(NF1):c.1892G>T (p.Gly631Val) rs876660272
NM_001042492.3(NF1):c.1895G>A (p.Cys632Tyr) rs1567846698
NM_001042492.3(NF1):c.1898A>C (p.Asp633Ala)
NM_001042492.3(NF1):c.189G>C (p.Lys63Asn) rs2143627434
NM_001042492.3(NF1):c.1911T>G (p.Ser637Arg) rs1456848774
NM_001042492.3(NF1):c.1919C>G (p.Thr640Ser) rs1555613573
NM_001042492.3(NF1):c.1919C>T (p.Thr640Ile) rs1555613573
NM_001042492.3(NF1):c.1923T>A (p.Ser641Arg) rs1555613576
NM_001042492.3(NF1):c.1930T>C (p.Ser644Pro)
NM_001042492.3(NF1):c.1935G>A (p.Met645Ile) rs1597710605
NM_001042492.3(NF1):c.1939C>T (p.His647Tyr) rs776251084
NM_001042492.3(NF1):c.1941T>A (p.His647Gln) rs1397958327
NM_001042492.3(NF1):c.1949TAC[1] (p.Leu651del)
NM_001042492.3(NF1):c.1950A>C (p.Leu650Phe) rs1597710650
NM_001042492.3(NF1):c.1954C>G (p.Arg652Gly)
NM_001042492.3(NF1):c.1954C>T (p.Arg652Cys) rs786202436
NM_001042492.3(NF1):c.1960C>T (p.Pro654Ser) rs765281937
NM_001042492.3(NF1):c.1961C>T (p.Pro654Leu) rs1597710728
NM_001042492.3(NF1):c.1964G>A (p.Gly655Glu)
NM_001042492.3(NF1):c.1964G>C (p.Gly655Ala) rs1555613596
NM_001042492.3(NF1):c.1966G>A (p.Ala656Thr) rs1555613598
NM_001042492.3(NF1):c.1966G>T (p.Ala656Ser)
NM_001042492.3(NF1):c.1970C>T (p.Ser657Phe)
NM_001042492.3(NF1):c.1976G>T (p.Arg659Leu)
NM_001042492.3(NF1):c.197A>G (p.Asn66Ser)
NM_001042492.3(NF1):c.1981G>A (p.Gly661Arg) rs2066993430
NM_001042492.3(NF1):c.1984A>G (p.Lys662Glu) rs1597710793
NM_001042492.3(NF1):c.1994_2001+7del
NM_001042492.3(NF1):c.1996T>A (p.Ser666Thr)
NM_001042492.3(NF1):c.2001+4A>G
NM_001042492.3(NF1):c.2001+5G>A
NM_001042492.3(NF1):c.2001G>A (p.Met667Ile) rs1597710853
NM_001042492.3(NF1):c.2002-5C>G rs1165625614
NM_001042492.3(NF1):c.2002G>A (p.Asp668Asn) rs1445299269
NM_001042492.3(NF1):c.2002G>C (p.Asp668His)
NM_001042492.3(NF1):c.2012C>G (p.Ala671Gly) rs760900648
NM_001042492.3(NF1):c.2018G>A (p.Cys673Tyr) rs878853872
NM_001042492.3(NF1):c.2020A>G (p.Ser674Gly) rs1555613753
NM_001042492.3(NF1):c.2027C>A (p.Thr676Asn)
NM_001042492.3(NF1):c.2027C>T (p.Thr676Ile) rs1294581001
NM_001042492.3(NF1):c.2032_2034delinsACA (p.Pro678Thr) rs1597712318
NM_001042492.3(NF1):c.2032_2034delinsGCA (p.Pro678Ala) rs1597712318
NM_001042492.3(NF1):c.2032_2034delinsTCA (p.Pro678Ser) rs1597712318
NM_001042492.3(NF1):c.2033_2034delinsTA (p.Pro678Leu) rs1597712334
NM_001042492.3(NF1):c.2035A>G (p.Ile679Val)
NM_001042492.3(NF1):c.2038T>C (p.Cys680Arg) rs1555613775
NM_001042492.3(NF1):c.203T>C (p.Met68Thr) rs779063198
NM_001042492.3(NF1):c.204+4A>G rs1555604946
NM_001042492.3(NF1):c.2042G>T (p.Arg681Leu) rs786201768
NM_001042492.3(NF1):c.2044C>G (p.Gln682Glu)
NM_001042492.3(NF1):c.2047G>A (p.Ala683Thr) rs2151425636
NM_001042492.3(NF1):c.204G>A (p.Met68Ile) rs1441153485
NM_001042492.3(NF1):c.2050C>G (p.Gln684Glu) rs2067016517
NM_001042492.3(NF1):c.2054C>A (p.Thr685Asn) rs876658190
NM_001042492.3(NF1):c.2060T>A (p.Leu687Gln)
NM_001042492.3(NF1):c.2062G>C (p.Glu688Gln) rs1555613784
NM_001042492.3(NF1):c.2068G>A (p.Ala690Thr)
NM_001042492.3(NF1):c.2068G>T (p.Ala690Ser)
NM_001042492.3(NF1):c.206G>T (p.Arg69Ile) rs1216707810
NM_001042492.3(NF1):c.2075A>T (p.Tyr692Phe) rs1555613792
NM_001042492.3(NF1):c.2077A>G (p.Met693Val) rs1555613794
NM_001042492.3(NF1):c.2079G>A (p.Met693Ile)
NM_001042492.3(NF1):c.2080T>C (p.Phe694Leu) rs1597712476
NM_001042492.3(NF1):c.2098A>G (p.Thr700Ala) rs1555613801
NM_001042492.3(NF1):c.2102A>C (p.Glu701Ala)
NM_001042492.3(NF1):c.2110C>G (p.Leu704Val) rs1597712521
NM_001042492.3(NF1):c.2111T>C (p.Leu704Pro)
NM_001042492.3(NF1):c.2116G>T (p.Ala706Ser) rs876658232
NM_001042492.3(NF1):c.2119A>C (p.Met707Leu)
NM_001042492.3(NF1):c.2120T>C (p.Met707Thr)
NM_001042492.3(NF1):c.2126G>T (p.Cys709Phe)
NM_001042492.3(NF1):c.2128T>G (p.Phe710Val)
NM_001042492.3(NF1):c.2131C>T (p.Arg711Cys) rs1400902839
NM_001042492.3(NF1):c.2134C>T (p.His712Tyr)
NM_001042492.3(NF1):c.2135A>G (p.His712Arg) rs199474727
NM_001042492.3(NF1):c.2144A>T (p.Glu715Val) rs2067018762
NM_001042492.3(NF1):c.214G>A (p.Gly72Arg)
NM_001042492.3(NF1):c.2155A>G (p.Ile719Val)
NM_001042492.3(NF1):c.215G>C (p.Gly72Ala)
NM_001042492.3(NF1):c.2161T>A (p.Cys721Ser) rs1597712637
NM_001042492.3(NF1):c.2161T>C (p.Cys721Arg) rs1597712637
NM_001042492.3(NF1):c.2162G>T (p.Cys721Phe) rs2067019239
NM_001042492.3(NF1):c.2164G>C (p.Gly722Arg)
NM_001042492.3(NF1):c.2165G>A (p.Gly722Glu) rs2151425948
NM_001042492.3(NF1):c.2186A>T (p.His729Leu)
NM_001042492.3(NF1):c.2198C>T (p.Pro733Leu)
NM_001042492.3(NF1):c.2201_2215del (p.Asn734_Phe738del)
NM_001042492.3(NF1):c.2206A>C (p.Asn736His) rs1567847621
NM_001042492.3(NF1):c.2212T>A (p.Phe738Ile)
NM_001042492.3(NF1):c.221C>T (p.Ala74Val) rs199474726
NM_001042492.3(NF1):c.2220G>T (p.Glu740Asp) rs2067020397
NM_001042492.3(NF1):c.2237A>G (p.Asn746Ser) rs1176567641
NM_001042492.3(NF1):c.2239A>G (p.Met747Val) rs1471232737
NM_001042492.3(NF1):c.223G>A (p.Ala75Thr) rs1597629733
NM_001042492.3(NF1):c.2241G>A (p.Met747Ile) rs1597712751
NM_001042492.3(NF1):c.2251+4A>T rs2067021300
NM_001042492.3(NF1):c.2255G>C (p.Arg752Thr)
NM_001042492.3(NF1):c.2260G>A (p.Ala754Thr) rs1597713272
NM_001042492.3(NF1):c.2261C>G (p.Ala754Gly) rs1555613912
NM_001042492.3(NF1):c.2275G>C (p.Val759Leu)
NM_001042492.3(NF1):c.2275G>T (p.Val759Leu) rs978948341
NM_001042492.3(NF1):c.2278A>G (p.Met760Val)
NM_001042492.3(NF1):c.2278A>T (p.Met760Leu) rs1191883088
NM_001042492.3(NF1):c.2278_2286dup (p.Leu762_Leu763insMetAlaLeu)
NM_001042492.3(NF1):c.2281G>A (p.Ala761Thr) rs786202504
NM_001042492.3(NF1):c.2287C>G (p.Leu763Val) rs1597713340
NM_001042492.3(NF1):c.2294G>T (p.Arg765Leu) rs199474777
NM_001042492.3(NF1):c.2304T>G (p.His768Gln) rs1597713390
NM_001042492.3(NF1):c.2308A>T (p.Thr770Ser)
NM_001042492.3(NF1):c.2312C>T (p.Ala771Val) rs1555613928
NM_001042492.3(NF1):c.2320A>G (p.Thr774Ala) rs2151427000
NM_001042492.3(NF1):c.2321C>T (p.Thr774Ile) rs917302286
NM_001042492.3(NF1):c.2325+4T>C rs1555613934
NM_001042492.3(NF1):c.2325+5G>T rs1597713425
NM_001042492.3(NF1):c.2326-5T>C rs1131691086
NM_001042492.3(NF1):c.2326G>T (p.Ala776Ser) rs199474771
NM_001042492.3(NF1):c.232_234del (p.Asn78del) rs1555605367
NM_001042492.3(NF1):c.2337T>G (p.Asp779Glu) rs1555613989
NM_001042492.3(NF1):c.2338A>G (p.Thr780Ala) rs1205746953
NM_001042492.3(NF1):c.233A>G (p.Asn78Ser) rs561555410
NM_001042492.3(NF1):c.2341C>T (p.His781Tyr) rs1443362216
NM_001042492.3(NF1):c.2344G>T (p.Ala782Ser) rs1352143970
NM_001042492.3(NF1):c.2353G>A (p.Glu785Lys) rs1597713756
NM_001042492.3(NF1):c.2355A>C (p.Glu785Asp)
NM_001042492.3(NF1):c.2356C>A (p.Gln786Lys) rs1555613999
NM_001042492.3(NF1):c.2357A>G (p.Gln786Arg)
NM_001042492.3(NF1):c.2374C>T (p.Leu792Phe) rs1555614005
NM_001042492.3(NF1):c.237A>T (p.Leu79Phe) rs752208826
NM_001042492.3(NF1):c.2390C>T (p.Ala797Val) rs1181350360
NM_001042492.3(NF1):c.2392A>G (p.Lys798Glu) rs1135402830
NM_001042492.3(NF1):c.2393A>G (p.Lys798Arg)
NM_001042492.3(NF1):c.2395A>T (p.Met799Leu) rs1060500317
NM_001042492.3(NF1):c.239A>C (p.Tyr80Ser) rs4795581
NM_001042492.3(NF1):c.2405G>A (p.Gly802Asp) rs752404130
NM_001042492.3(NF1):c.2407C>G (p.Gln803Glu)
NM_001042492.3(NF1):c.2408A>C (p.Gln803Pro)
NM_001042492.3(NF1):c.2409+3A>G
NM_001042492.3(NF1):c.2410G>C (p.Ala804Pro) rs761109477
NM_001042492.3(NF1):c.241C>T (p.Leu81Phe)
NM_001042492.3(NF1):c.2420G>A (p.Ser807Asn) rs1597715090
NM_001042492.3(NF1):c.2428A>G (p.Lys810Glu) rs2151428832
NM_001042492.3(NF1):c.2440A>G (p.Lys814Glu) rs1555614184
NM_001042492.3(NF1):c.2441A>C (p.Lys814Thr) rs1555614185
NM_001042492.3(NF1):c.2443A>G (p.Arg815Gly)
NM_001042492.3(NF1):c.2444G>A (p.Arg815Lys) rs1597715123
NM_001042492.3(NF1):c.2450T>C (p.Met817Thr) rs1597715147
NM_001042492.3(NF1):c.2455C>T (p.His819Tyr) rs1597715162
NM_001042492.3(NF1):c.2456A>G (p.His819Arg) rs786202297
NM_001042492.3(NF1):c.2462G>A (p.Ser821Asn) rs1303972238
NM_001042492.3(NF1):c.2464G>A (p.Gly822Arg) rs2067065463
NM_001042492.3(NF1):c.2464GGA[2] (p.Gly824del)
NM_001042492.3(NF1):c.2467G>A (p.Gly823Arg) rs1597715196
NM_001042492.3(NF1):c.2473T>G (p.Ser825Ala)
NM_001042492.3(NF1):c.2476A>G (p.Ile826Val) rs767069721
NM_001042492.3(NF1):c.2479G>A (p.Asp827Asn) rs1597715215
NM_001042492.3(NF1):c.2482T>G (p.Leu828Val)
NM_001042492.3(NF1):c.2485T>G (p.Ser829Ala) rs1555614202
NM_001042492.3(NF1):c.2486C>T (p.Ser829Phe) rs1567848794
NM_001042492.3(NF1):c.2491A>G (p.Thr831Ala) rs1555614204
NM_001042492.3(NF1):c.2492_2493delinsAATCT (p.Thr831delinsLysSer) rs1597715231
NM_001042492.3(NF1):c.2495A>G (p.Asp832Gly) rs1060500283
NM_001042492.3(NF1):c.2498C>A (p.Ser833Tyr)
NM_001042492.3(NF1):c.250T>G (p.Leu84Val)
NM_001042492.3(NF1):c.2512A>G (p.Ile838Val) rs1555614212
NM_001042492.3(NF1):c.2517C>G (p.Asn839Lys)
NM_001042492.3(NF1):c.2518A>G (p.Met840Val) rs779931789
NM_001042492.3(NF1):c.2520G>A (p.Met840Ile)
NM_001042492.3(NF1):c.2525G>A (p.Gly842Asp) rs1597715290
NM_001042492.3(NF1):c.2527T>G (p.Phe843Val) rs2151429055
NM_001042492.3(NF1):c.2527_2528delinsGA (p.Phe843Asp)
NM_001042492.3(NF1):c.2528T>A (p.Phe843Tyr)
NM_001042492.3(NF1):c.252G>T (p.Leu84Phe) rs1597629835
NM_001042492.3(NF1):c.2549T>C (p.Val850Ala) rs1424956205
NM_001042492.3(NF1):c.2554C>T (p.Leu852Phe) rs747579293
NM_001042492.3(NF1):c.2567G>A (p.Ser856Asn) rs2151429147
NM_001042492.3(NF1):c.2569A>C (p.Asn857His) rs1060500259
NM_001042492.3(NF1):c.2578C>G (p.Leu860Val) rs1597715404
NM_001042492.3(NF1):c.2581G>A (p.Ala861Thr) rs768425956
NM_001042492.3(NF1):c.2582C>A (p.Ala861Glu) rs1555614266
NM_001042492.3(NF1):c.2584A>G (p.Thr862Ala) rs1597715417
NM_001042492.3(NF1):c.2588A>G (p.Tyr863Cys) rs1344682851
NM_001042492.3(NF1):c.2599A>G (p.Met867Val) rs864622715
NM_001042492.3(NF1):c.2608G>C (p.Val870Leu)
NM_001042492.3(NF1):c.2611A>G (p.Ser871Gly) rs2067069318
NM_001042492.3(NF1):c.2614G>A (p.Glu872Lys)
NM_001042492.3(NF1):c.2615A>G (p.Glu872Gly)
NM_001042492.3(NF1):c.2617C>A (p.Arg873Ser)
NM_001042492.3(NF1):c.2618G>C (p.Arg873Pro) rs949092641
NM_001042492.3(NF1):c.2623G>A (p.Gly875Ser) rs754734571
NM_001042492.3(NF1):c.2623G>T (p.Gly875Cys) rs754734571
NM_001042492.3(NF1):c.2630T>C (p.Met877Thr) rs2151429296
NM_001042492.3(NF1):c.2631G>T (p.Met877Ile) rs1597715515
NM_001042492.3(NF1):c.2635T>G (p.Ser879Ala)
NM_001042492.3(NF1):c.2641A>G (p.Met881Val) rs1060500263
NM_001042492.3(NF1):c.2642T>C (p.Met881Thr) rs777868654
NM_001042492.3(NF1):c.2648C>T (p.Ser883Leu) rs2151429346
NM_001042492.3(NF1):c.2652G>T (p.Glu884Asp) rs757843283
NM_001042492.3(NF1):c.2653G>A (p.Gly885Arg) rs1060500272
NM_001042492.3(NF1):c.2654G>C (p.Gly885Ala)
NM_001042492.3(NF1):c.2658C>A (p.Asn886Lys)
NM_001042492.3(NF1):c.2660C>G (p.Ala887Gly)
NM_001042492.3(NF1):c.2666C>A (p.Thr889Lys)
NM_001042492.3(NF1):c.266C>A (p.Thr89Lys) rs1555605392
NM_001042492.3(NF1):c.2681T>G (p.Phe894Cys)
NM_001042492.3(NF1):c.268C>A (p.Leu90Met)
NM_001042492.3(NF1):c.2698T>A (p.Ser900Thr)
NM_001042492.3(NF1):c.2705T>C (p.Met902Thr)
NM_001042492.3(NF1):c.2707G>C (p.Val903Leu)
NM_001042492.3(NF1):c.2711G>A (p.Cys904Tyr)
NM_001042492.3(NF1):c.2714A>G (p.Asn905Ser)
NM_001042492.3(NF1):c.2726T>C (p.Val909Ala)
NM_001042492.3(NF1):c.2728G>A (p.Gly910Arg) rs1555614314
NM_001042492.3(NF1):c.2729G>A (p.Gly910Glu)
NM_001042492.3(NF1):c.2732T>A (p.Leu911His) rs1555614315
NM_001042492.3(NF1):c.274A>G (p.Lys92Glu) rs1555605396
NM_001042492.3(NF1):c.2755G>A (p.Asp919Asn) rs1597715708
NM_001042492.3(NF1):c.2757T>A (p.Asp919Glu) rs1131691110
NM_001042492.3(NF1):c.2758C>A (p.Leu920Met)
NM_001042492.3(NF1):c.2761G>A (p.Val921Met) rs567023433
NM_001042492.3(NF1):c.2761G>T (p.Val921Leu)
NM_001042492.3(NF1):c.2763G>A (p.Val921=) rs1597715725
NM_001042492.3(NF1):c.2767C>A (p.Leu923Ile) rs1567849138
NM_001042492.3(NF1):c.2782G>T (p.Ala928Ser)
NM_001042492.3(NF1):c.2794A>C (p.Met932Leu) rs886052800
NM_001042492.3(NF1):c.2794A>T (p.Met932Leu) rs886052800
NM_001042492.3(NF1):c.2806A>G (p.Lys936Glu) rs1555614345
NM_001042492.3(NF1):c.2815A>G (p.Asn939Asp)
NM_001042492.3(NF1):c.2825G>C (p.Ser942Thr) rs1555614350
NM_001042492.3(NF1):c.2827A>G (p.Lys943Glu) rs1567849199
NM_001042492.3(NF1):c.2831T>A (p.Phe944Tyr)
NM_001042492.3(NF1):c.2839T>A (p.Ser947Thr) rs1567849219
NM_001042492.3(NF1):c.284C>G (p.Ala95Gly) rs1567816119
NM_001042492.3(NF1):c.2850+2T>C rs1597715880
NM_001042492.3(NF1):c.2855_3113+154dup
NM_001042492.3(NF1):c.2867C>G (p.Thr956Ser) rs1323973848
NM_001042492.3(NF1):c.2867C>T (p.Thr956Ile) rs1323973848
NM_001042492.3(NF1):c.2869A>C (p.Asn957His)
NM_001042492.3(NF1):c.286G>T (p.Gly96Trp) rs1597629902
NM_001042492.3(NF1):c.2870A>G (p.Asn957Ser)
NM_001042492.3(NF1):c.2878T>G (p.Phe960Val)
NM_001042492.3(NF1):c.288+4A>C
NM_001042492.3(NF1):c.2887C>G (p.Gln963Glu)
NM_001042492.3(NF1):c.288G>A (p.Gly96=) rs1430988476
NM_001042492.3(NF1):c.2897C>G (p.Ala966Gly) rs1567849533
NM_001042492.3(NF1):c.2901A>G (p.Ile967Met) rs2151430624
NM_001042492.3(NF1):c.2903T>C (p.Met968Thr)
NM_001042492.3(NF1):c.2904G>A (p.Met968Ile) rs1597716342
NM_001042492.3(NF1):c.2907G>T (p.Lys969Asn)
NM_001042492.3(NF1):c.2915T>C (p.Leu972Pro) rs1597716348
NM_001042492.3(NF1):c.2918A>G (p.Asp973Gly)
NM_001042492.3(NF1):c.2927C>G (p.Thr976Ser) rs755404523
NM_001042492.3(NF1):c.2933G>A (p.Gly978Asp) rs1597716371
NM_001042492.3(NF1):c.293C>A (p.Pro98Gln) rs780979519
NM_001042492.3(NF1):c.293C>G (p.Pro98Arg)
NM_001042492.3(NF1):c.2941G>C (p.Glu981Gln) rs1555614449
NM_001042492.3(NF1):c.2948T>C (p.Leu983Pro)
NM_001042492.3(NF1):c.2951G>A (p.Gly984Glu)
NM_001042492.3(NF1):c.295A>G (p.Lys99Glu)
NM_001042492.3(NF1):c.2972T>C (p.Met991Thr) rs1060500298
NM_001042492.3(NF1):c.2973G>T (p.Met991Ile)
NM_001042492.3(NF1):c.2975T>C (p.Met992Thr) rs1567849596
NM_001042492.3(NF1):c.2981A>G (p.Asn994Ser) rs2067085209
NM_001042492.3(NF1):c.2993A>C (p.Tyr998Ser) rs1555614496
NM_001042492.3(NF1):c.2993A>G (p.Tyr998Cys) rs1555614496
NM_001042492.3(NF1):c.2993A>T (p.Tyr998Phe)
NM_001042492.3(NF1):c.3014T>C (p.Met1005Thr) rs1555614504
NM_001042492.3(NF1):c.3017T>C (p.Val1006Ala) rs755636107
NM_001042492.3(NF1):c.3017T>G (p.Val1006Gly)
NM_001042492.3(NF1):c.3023C>A (p.Ala1008Glu)
NM_001042492.3(NF1):c.3025A>G (p.Ile1009Val) rs1597716866
NM_001042492.3(NF1):c.3028C>A (p.Gln1010Lys)
NM_001042492.3(NF1):c.3030A>T (p.Gln1010His)
NM_001042492.3(NF1):c.3033A>G (p.Ile1011Met) rs2151431575
NM_001042492.3(NF1):c.3035A>G (p.Lys1012Arg) rs1597716883
NM_001042492.3(NF1):c.3036A>C (p.Lys1012Asn)
NM_001042492.3(NF1):c.3037A>C (p.Thr1013Pro) rs1597716888
NM_001042492.3(NF1):c.3059A>C (p.Glu1020Ala)
NM_001042492.3(NF1):c.3061G>A (p.Val1021Ile)
NM_001042492.3(NF1):c.3062T>C (p.Val1021Ala)
NM_001042492.3(NF1):c.3069G>T (p.Met1023Ile)
NM_001042492.3(NF1):c.3070G>T (p.Ala1024Ser) rs786203657
NM_001042492.3(NF1):c.3071C>T (p.Ala1024Val) rs1555614525
NM_001042492.3(NF1):c.3078A>C (p.Arg1026Ser) rs1597716965
NM_001042492.3(NF1):c.3084C>A (p.Asp1028Glu)
NM_001042492.3(NF1):c.3085C>T (p.Leu1029Phe) rs1597716976
NM_001042492.3(NF1):c.3086T>C (p.Leu1029Pro) rs2067092609
NM_001042492.3(NF1):c.308G>C (p.Arg103Thr)
NM_001042492.3(NF1):c.3104T>C (p.Met1035Thr) rs137854553
NM_001042492.3(NF1):c.3105G>A (p.Met1035Ile)
NM_001042492.3(NF1):c.3107A>G (p.Lys1036Arg) rs1555614540
NM_001042492.3(NF1):c.3114-4A>C rs201550230
NM_001042492.3(NF1):c.3114G>C (p.Arg1038Ser) rs1555614616
NM_001042492.3(NF1):c.3117T>A (p.Asn1039Lys) rs1597717516
NM_001042492.3(NF1):c.3119A>C (p.Lys1040Thr)
NM_001042492.3(NF1):c.3121A>G (p.Met1041Val)
NM_001042492.3(NF1):c.3122T>A (p.Met1041Lys) rs2151432359
NM_001042492.3(NF1):c.3129A>C (p.Glu1043Asp) rs1597717530
NM_001042492.3(NF1):c.3130T>A (p.Tyr1044Asn) rs1597717533
NM_001042492.3(NF1):c.3130T>C (p.Tyr1044His)
NM_001042492.3(NF1):c.3145G>A (p.Val1049Ile) rs1060500343
NM_001042492.3(NF1):c.3150G>A (p.Met1050Ile) rs1555614639
NM_001042492.3(NF1):c.3167C>T (p.Ala1056Val) rs759655189
NM_001042492.3(NF1):c.3172G>A (p.Asp1058Asn) rs1597717634
NM_001042492.3(NF1):c.3173A>G (p.Asp1058Gly) rs1387858614
NM_001042492.3(NF1):c.3173ATG[2] (p.Asp1060del) rs1597717639
NM_001042492.3(NF1):c.3173_3174delinsCA (p.Asp1058Ala) rs2067102400
NM_001042492.3(NF1):c.3175G>A (p.Asp1059Asn) rs765164994
NM_001042492.3(NF1):c.3176A>T (p.Asp1059Val) rs1597717658
NM_001042492.3(NF1):c.3179A>T (p.Asp1060Val) rs1597717664
NM_001042492.3(NF1):c.3184A>G (p.Lys1062Glu) rs2151432521
NM_001042492.3(NF1):c.3185A>T (p.Lys1062Ile) rs1314168961
NM_001042492.3(NF1):c.3187T>C (p.Cys1063Arg) rs776079267
NM_001042492.3(NF1):c.3194C>G (p.Thr1065Arg)
NM_001042492.3(NF1):c.3197G>C (p.Arg1066Thr) rs1555614652
NM_001042492.3(NF1):c.3198-330A>G
NM_001042492.3(NF1):c.3198-5T>G rs587782639
NM_001042492.3(NF1):c.320C>G (p.Thr107Arg) rs1567817857
NM_001042492.3(NF1):c.320C>T (p.Thr107Met) rs1567817857
NM_001042492.3(NF1):c.3212C>A (p.Ala1071Glu)
NM_001042492.3(NF1):c.3216C>A (p.Ser1072Arg) rs1567850647
NM_001042492.3(NF1):c.3216C>G (p.Ser1072Arg) rs1567850647
NM_001042492.3(NF1):c.3218T>G (p.Met1073Arg) rs1555614827
NM_001042492.3(NF1):c.3219G>C (p.Met1073Ile)
NM_001042492.3(NF1):c.3220G>A (p.Glu1074Lys)
NM_001042492.3(NF1):c.3229G>C (p.Val1077Leu)
NM_001042492.3(NF1):c.3235C>A (p.Leu1079Ile)
NM_001042492.3(NF1):c.3235C>T (p.Leu1079Phe)
NM_001042492.3(NF1):c.323T>C (p.Met108Thr) rs780233935
NM_001042492.3(NF1):c.3241G>C (p.Ala1081Pro) rs1555614834
NM_001042492.3(NF1):c.3250C>T (p.Pro1084Ser) rs1555614848
NM_001042492.3(NF1):c.3269G>A (p.Gly1090Glu)
NM_001042492.3(NF1):c.3273T>A (p.Asp1091Glu) rs1131691124
NM_001042492.3(NF1):c.3274G>A (p.Gly1092Ser) rs1457169236
NM_001042492.3(NF1):c.3274G>C (p.Gly1092Arg) rs1457169236
NM_001042492.3(NF1):c.3289G>A (p.Glu1097Lys) rs1555614865
NM_001042492.3(NF1):c.3292G>A (p.Ala1098Thr)
NM_001042492.3(NF1):c.3295A>C (p.Lys1099Gln)
NM_001042492.3(NF1):c.3308T>G (p.Phe1103Cys) rs1597718879
NM_001042492.3(NF1):c.3315A>T (p.Lys1105Asn)
NM_001042492.3(NF1):c.3336C>A (p.Asn1112Lys) rs1060500262
NM_001042492.3(NF1):c.3336C>G (p.Asn1112Lys) rs1060500262
NM_001042492.3(NF1):c.3347A>C (p.Asp1116Ala) rs1597719439
NM_001042492.3(NF1):c.3358G>A (p.Val1120Ile) rs200594167
NM_001042492.3(NF1):c.3361G>A (p.Glu1121Lys) rs1567851029
NM_001042492.3(NF1):c.3365A>G (p.Asp1122Gly) rs1597719461
NM_001042492.3(NF1):c.3368A>G (p.Glu1123Gly) rs1410465727
NM_001042492.3(NF1):c.3371G>T (p.Ser1124Ile) rs374472758
NM_001042492.3(NF1):c.3383G>A (p.Gly1128Asp) rs1060500325
NM_001042492.3(NF1):c.3383G>C (p.Gly1128Ala) rs1060500325
NM_001042492.3(NF1):c.3391A>C (p.Lys1131Gln) rs2067135932
NM_001042492.3(NF1):c.3397G>A (p.Gly1133Ser)
NM_001042492.3(NF1):c.3407G>C (p.Arg1136Pro) rs868407539
NM_001042492.3(NF1):c.3415G>A (p.Ala1139Thr) rs587778551
NM_001042492.3(NF1):c.3415G>C (p.Ala1139Pro)
NM_001042492.3(NF1):c.3416C>T (p.Ala1139Val)
NM_001042492.3(NF1):c.3428A>G (p.His1143Arg) rs1555614965
NM_001042492.3(NF1):c.3430T>C (p.Cys1144Arg) rs2067136902
NM_001042492.3(NF1):c.3433A>G (p.Thr1145Ala) rs1450606511
NM_001042492.3(NF1):c.3437T>C (p.Val1146Ala)
NM_001042492.3(NF1):c.3437T>G (p.Val1146Gly)
NM_001042492.3(NF1):c.3443C>T (p.Ala1148Val)
NM_001042492.3(NF1):c.3446T>G (p.Met1149Arg) rs1131691121
NM_001042492.3(NF1):c.3457C>T (p.Leu1153Phe) rs2151434781
NM_001042492.3(NF1):c.3460A>T (p.Asn1154Tyr)
NM_001042492.3(NF1):c.3484A>T (p.Met1162Leu) rs773968270
NM_001042492.3(NF1):c.3487C>A (p.His1163Asn)
NM_001042492.3(NF1):c.3494T>C (p.Ile1165Thr) rs786204211
NM_001042492.3(NF1):c.3496+3G>A rs1060500287
NM_001042492.3(NF1):c.3497-2A>G
NM_001042492.3(NF1):c.3503G>T (p.Gly1168Val)
NM_001042492.3(NF1):c.3506A>G (p.Tyr1169Cys) rs1555615014
NM_001042492.3(NF1):c.3509A>T (p.His1170Leu) rs1597719889
NM_001042492.3(NF1):c.3510C>G (p.His1170Gln)
NM_001042492.3(NF1):c.3515A>G (p.Asp1172Gly) rs1555615017
NM_001042492.3(NF1):c.3517C>T (p.Leu1173Phe) rs1060500375
NM_001042492.3(NF1):c.3524C>T (p.Thr1175Ile) rs1555615024
NM_001042492.3(NF1):c.3530C>A (p.Ala1177Asp)
NM_001042492.3(NF1):c.3533C>G (p.Thr1178Arg) rs1555615025
NM_001042492.3(NF1):c.3538A>G (p.Met1180Val) rs786203658
NM_001042492.3(NF1):c.3538A>T (p.Met1180Leu) rs786203658
NM_001042492.3(NF1):c.3543A>C (p.Glu1181Asp)
NM_001042492.3(NF1):c.3550A>G (p.Thr1184Ala) rs2151435398
NM_001042492.3(NF1):c.3553A>G (p.Lys1185Glu) rs2151435410
NM_001042492.3(NF1):c.3557T>C (p.Ile1186Thr)
NM_001042492.3(NF1):c.3563A>G (p.Gln1188Arg) rs758419553
NM_001042492.3(NF1):c.3565C>G (p.Gln1189Glu) rs878853884
NM_001042492.3(NF1):c.356A>G (p.His119Arg) rs150080742
NM_001042492.3(NF1):c.3571A>G (p.Thr1191Ala) rs1555615033
NM_001042492.3(NF1):c.3581A>G (p.Asp1194Gly)
NM_001042492.3(NF1):c.3584C>T (p.Thr1195Ile)
NM_001042492.3(NF1):c.3596C>T (p.Thr1199Ile) rs1555615047
NM_001042492.3(NF1):c.35C>T (p.Ala12Val) rs1911554964
NM_001042492.3(NF1):c.3611G>A (p.Arg1204Gln) rs1057521848
NM_001042492.3(NF1):c.3617A>G (p.Glu1206Gly) rs1597720070
NM_001042492.3(NF1):c.3625G>T (p.Val1209Leu) rs1458579232
NM_001042492.3(NF1):c.3634G>A (p.Val1212Ile) rs1597720116
NM_001042492.3(NF1):c.3646G>T (p.Gly1216Cys) rs1567851424
NM_001042492.3(NF1):c.3661C>T (p.Leu1221Phe)
NM_001042492.3(NF1):c.3662T>C (p.Leu1221Pro) rs1597720167
NM_001042492.3(NF1):c.3664C>G (p.Pro1222Ala) rs1555615088
NM_001042492.3(NF1):c.3664C>T (p.Pro1222Ser) rs1555615088
NM_001042492.3(NF1):c.3667A>G (p.Ile1223Val) rs1567851470
NM_001042492.3(NF1):c.3668T>C (p.Ile1223Thr)
NM_001042492.3(NF1):c.3671C>G (p.Ala1224Gly) rs1060500340
NM_001042492.3(NF1):c.3671C>T (p.Ala1224Val) rs1060500340
NM_001042492.3(NF1):c.3673A>G (p.Met1225Val) rs770837892
NM_001042492.3(NF1):c.3675G>A (p.Met1225Ile)
NM_001042492.3(NF1):c.3679C>G (p.Leu1227Val) rs876660431
NM_001042492.3(NF1):c.3683C>T (p.Ala1228Val) rs1060500315
NM_001042492.3(NF1):c.3685A>T (p.Asn1229Tyr) rs1555615102
NM_001042492.3(NF1):c.368C>A (p.Thr123Asn) rs878853886
NM_001042492.3(NF1):c.368C>G (p.Thr123Ser)
NM_001042492.3(NF1):c.3691G>A (p.Val1231Ile)
NM_001042492.3(NF1):c.3691G>C (p.Val1231Leu)
NM_001042492.3(NF1):c.3691G>T (p.Val1231Phe) rs1597720248
NM_001042492.3(NF1):c.3695C>T (p.Pro1232Leu) rs2067145287
NM_001042492.3(NF1):c.3706T>C (p.Trp1236Arg) rs1555615111
NM_001042492.3(NF1):c.3709-5C>T rs1390680821
NM_001042492.3(NF1):c.3712G>A (p.Glu1238Lys)
NM_001042492.3(NF1):c.3714A>T (p.Glu1238Asp)
NM_001042492.3(NF1):c.3718G>C (p.Ala1240Pro)
NM_001042492.3(NF1):c.3719C>T (p.Ala1240Val) rs2067185676
NM_001042492.3(NF1):c.3727C>G (p.Leu1243Val)
NM_001042492.3(NF1):c.3734C>G (p.Thr1245Ser) rs1363534157
NM_001042492.3(NF1):c.373C>A (p.Arg125Ser) rs876659418
NM_001042492.3(NF1):c.373C>G (p.Arg125Gly) rs876659418
NM_001042492.3(NF1):c.3748C>A (p.Arg1250=)
NM_001042492.3(NF1):c.374G>T (p.Arg125Leu) rs149003051
NM_001042492.3(NF1):c.3765_3766insATT (p.Gln1255_Leu1256insIle)
NM_001042492.3(NF1):c.3767T>A (p.Leu1256Gln)
NM_001042492.3(NF1):c.3774G>C (p.Trp1258Cys) rs1597722516
NM_001042492.3(NF1):c.3779T>C (p.Met1260Thr) rs1555615463
NM_001042492.3(NF1):c.3780G>T (p.Met1260Ile)
NM_001042492.3(NF1):c.378A>C (p.Glu126Asp) rs786201914
NM_001042492.3(NF1):c.3790G>C (p.Glu1264Gln)
NM_001042492.3(NF1):c.3794T>C (p.Val1265Ala)
NM_001042492.3(NF1):c.3797A>G (p.Glu1266Gly)
NM_001042492.3(NF1):c.37G>T (p.Val13Leu) rs1060500261
NM_001042492.3(NF1):c.3808T>A (p.Ser1270Thr) rs1597722567
NM_001042492.3(NF1):c.3809C>T (p.Ser1270Phe)
NM_001042492.3(NF1):c.3816G>C (p.Gln1272His)
NM_001042492.3(NF1):c.3830G>C (p.Gly1277Ala)
NM_001042492.3(NF1):c.3832A>G (p.Asn1278Asp)
NM_001042492.3(NF1):c.3834C>A (p.Asn1278Lys)
NM_001042492.3(NF1):c.3838T>G (p.Leu1280Val)
NM_001042492.3(NF1):c.3840G>T (p.Leu1280Phe)
NM_001042492.3(NF1):c.3841G>A (p.Ala1281Thr) rs2151438011
NM_001042492.3(NF1):c.3842C>G (p.Ala1281Gly) rs1060500341
NM_001042492.3(NF1):c.3844A>G (p.Ser1282Gly)
NM_001042492.3(NF1):c.3849A>G (p.Lys1283=) rs1597722644
NM_001042492.3(NF1):c.3853A>C (p.Met1285Leu) rs2151438030
NM_001042492.3(NF1):c.3859T>C (p.Phe1287Leu) rs1434858786
NM_001042492.3(NF1):c.386A>T (p.Gln129Leu) rs1060500250
NM_001042492.3(NF1):c.3870+3T>A
NM_001042492.3(NF1):c.3870+5G>A
NM_001042492.3(NF1):c.3871G>A (p.Val1291Ile)
NM_001042492.3(NF1):c.3872T>C (p.Val1291Ala)
NM_001042492.3(NF1):c.3875A>G (p.Tyr1292Cys) rs1060500243
NM_001042492.3(NF1):c.3877G>A (p.Gly1293Ser)
NM_001042492.3(NF1):c.3878G>A (p.Gly1293Asp) rs2067193448
NM_001042492.3(NF1):c.387G>C (p.Gln129His) rs1390215440
NM_001042492.3(NF1):c.3889C>A (p.Leu1297Ile)
NM_001042492.3(NF1):c.388C>T (p.His130Tyr)
NM_001042492.3(NF1):c.3890T>C (p.Leu1297Pro) rs1597722927
NM_001042492.3(NF1):c.389A>C (p.His130Pro)
NM_001042492.3(NF1):c.389A>G (p.His130Arg) rs876660277
NM_001042492.3(NF1):c.38T>C (p.Val13Ala) rs1911556061
NM_001042492.3(NF1):c.3904G>A (p.Asp1302Asn) rs1597722958
NM_001042492.3(NF1):c.3907C>T (p.Pro1303Ser)
NM_001042492.3(NF1):c.3908C>G (p.Pro1303Arg) rs1597722962
NM_001042492.3(NF1):c.3908C>T (p.Pro1303Leu)
NM_001042492.3(NF1):c.391G>A (p.Ala131Thr)
NM_001042492.3(NF1):c.3925A>G (p.Ile1309Val) rs1350012235
NM_001042492.3(NF1):c.3926T>A (p.Ile1309Asn) rs1567852796
NM_001042492.3(NF1):c.3929C>A (p.Thr1310Lys) rs1555615554
NM_001042492.3(NF1):c.3929C>T (p.Thr1310Ile) rs1555615554
NM_001042492.3(NF1):c.392C>T (p.Ala131Val) rs1567817930
NM_001042492.3(NF1):c.3932C>A (p.Ser1311Tyr) rs587782894
NM_001042492.3(NF1):c.3932C>T (p.Ser1311Phe) rs587782894
NM_001042492.3(NF1):c.3947A>C (p.His1316Pro) rs751023085
NM_001042492.3(NF1):c.3949G>A (p.Val1317Ile) rs1555615560
NM_001042492.3(NF1):c.394G>A (p.Ala132Thr)
NM_001042492.3(NF1):c.3953G>C (p.Ser1318Thr)
NM_001042492.3(NF1):c.3959A>C (p.Glu1320Ala) rs1555615562
NM_001042492.3(NF1):c.3960A>C (p.Glu1320Asp) rs1555615564
NM_001042492.3(NF1):c.3962T>G (p.Val1321Gly) rs1060500337
NM_001042492.3(NF1):c.3980A>G (p.Glu1327Gly) rs2067447715
NM_001042492.3(NF1):c.3982C>T (p.Pro1328Ser) rs2151451297
NM_001042492.3(NF1):c.3986C>T (p.Ser1329Leu) rs1060500319
NM_001042492.3(NF1):c.3988G>A (p.Glu1330Lys) rs1483311407
NM_001042492.3(NF1):c.3991A>G (p.Ser1331Gly) rs1411796317
NM_001042492.3(NF1):c.3992G>A (p.Ser1331Asn) rs1567858266
NM_001042492.3(NF1):c.3995T>C (p.Leu1332Pro)
NM_001042492.3(NF1):c.3998A>G (p.Glu1333Gly) rs200618072
NM_001042492.3(NF1):c.4000G>A (p.Glu1334Lys) rs878853892
NM_001042492.3(NF1):c.4003A>T (p.Asn1335Tyr)
NM_001042492.3(NF1):c.4007A>C (p.Gln1336Pro) rs1597735043
NM_001042492.3(NF1):c.4010G>A (p.Arg1337Gln) rs1060500379
NM_001042492.3(NF1):c.4015C>T (p.Leu1339Phe) rs876660466
NM_001042492.3(NF1):c.4022A>T (p.Gln1341Leu) rs1555617325
NM_001042492.3(NF1):c.4030G>A (p.Glu1344Lys)
NM_001042492.3(NF1):c.4034A>G (p.Lys1345Arg)
NM_001042492.3(NF1):c.4041C>A (p.Phe1347Leu)
NM_001042492.3(NF1):c.4043A>C (p.His1348Pro)
NM_001042492.3(NF1):c.4044T>A (p.His1348Gln) rs1315375188
NM_001042492.3(NF1):c.4045G>A (p.Ala1349Thr) rs1555617332
NM_001042492.3(NF1):c.4046C>T (p.Ala1349Val) rs1229215269
NM_001042492.3(NF1):c.4049T>A (p.Ile1350Asn)
NM_001042492.3(NF1):c.4051A>T (p.Ile1351Phe)
NM_001042492.3(NF1):c.4054A>C (p.Ser1352Arg)
NM_001042492.3(NF1):c.4054A>T (p.Ser1352Cys) rs1337343400
NM_001042492.3(NF1):c.4058C>T (p.Ser1353Phe) rs1555617346
NM_001042492.3(NF1):c.4064C>T (p.Ser1355Leu) rs1131691087
NM_001042492.3(NF1):c.4069T>A (p.Phe1357Ile) rs1207255352
NM_001042492.3(NF1):c.4069T>C (p.Phe1357Leu) rs1207255352
NM_001042492.3(NF1):c.4071C>A (p.Phe1357Leu)
NM_001042492.3(NF1):c.4071C>G (p.Phe1357Leu) rs747272290
NM_001042492.3(NF1):c.4072C>A (p.Pro1358Thr)
NM_001042492.3(NF1):c.4072C>G (p.Pro1358Ala) rs1555617359
NM_001042492.3(NF1):c.4072C>T (p.Pro1358Ser) rs1555617359
NM_001042492.3(NF1):c.4075C>A (p.Pro1359Thr) rs745931495
NM_001042492.3(NF1):c.4075C>T (p.Pro1359Ser)
NM_001042492.3(NF1):c.4085G>A (p.Arg1362Gln) rs540108477
NM_001042492.3(NF1):c.4097A>G (p.His1366Arg) rs769042915
NM_001042492.3(NF1):c.40G>T (p.Val14Phe) rs2143145306
NM_001042492.3(NF1):c.4103T>C (p.Leu1368Ser) rs1597735265
NM_001042492.3(NF1):c.4109A>C (p.Gln1370Pro) rs1135402853
NM_001042492.3(NF1):c.4110+3A>C rs774669878
NM_001042492.3(NF1):c.4110+4T>A rs587781700
NM_001042492.3(NF1):c.4110G>A (p.Gln1370=) rs1135402854
NM_001042492.3(NF1):c.413C>T (p.Ala138Val) rs1597635942
NM_001042492.3(NF1):c.415T>A (p.Ser139Thr) rs1555606096
NM_001042492.3(NF1):c.415T>C (p.Ser139Pro) rs1555606096
NM_001042492.3(NF1):c.4174G>A (p.Val1392Met) rs1597744525
NM_001042492.3(NF1):c.4174G>T (p.Val1392Leu) rs1597744525
NM_001042492.3(NF1):c.4184A>G (p.Gln1395Arg) rs2151461782
NM_001042492.3(NF1):c.4186C>T (p.Arg1396Cys) rs1555618495
NM_001042492.3(NF1):c.4191C>A (p.Phe1397Leu) rs1555618498
NM_001042492.3(NF1):c.4196A>G (p.Gln1399Arg)
NM_001042492.3(NF1):c.4197G>C (p.Gln1399His) rs1355988609
NM_001042492.3(NF1):c.4197G>T (p.Gln1399His) rs1355988609
NM_001042492.3(NF1):c.4198A>G (p.Asn1400Asp)
NM_001042492.3(NF1):c.4204A>T (p.Ile1402Phe)
NM_001042492.3(NF1):c.4206C>G (p.Ile1402Met) rs864622406
NM_001042492.3(NF1):c.4207G>C (p.Gly1403Arg) rs138227618
NM_001042492.3(NF1):c.4208G>C (p.Gly1403Ala)
NM_001042492.3(NF1):c.4210G>T (p.Ala1404Ser)
NM_001042492.3(NF1):c.4213_4242dup (p.Ile1414_Asn1415insValGlySerAlaMetPheLeuArgPheIle)
NM_001042492.3(NF1):c.4221T>A (p.Ser1407Arg)
NM_001042492.3(NF1):c.4226T>C (p.Met1409Thr) rs1555618508
NM_001042492.3(NF1):c.4227G>A (p.Met1409Ile) rs786201895
NM_001042492.3(NF1):c.4228T>A (p.Phe1410Ile) rs2151461937
NM_001042492.3(NF1):c.4237T>C (p.Phe1413Leu) rs1190777334
NM_001042492.3(NF1):c.4239T>G (p.Phe1413Leu) rs1597744644
NM_001042492.3(NF1):c.4243A>G (p.Asn1415Asp) rs1555618518
NM_001042492.3(NF1):c.4247C>T (p.Pro1416Leu) rs1555618521
NM_001042492.3(NF1):c.4250C>T (p.Ala1417Val)
NM_001042492.3(NF1):c.4252_4254del (p.Ile1418del) rs1597744672
NM_001042492.3(NF1):c.4253T>C (p.Ile1418Thr)
NM_001042492.3(NF1):c.4255G>A (p.Val1419Ile) rs2067622413
NM_001042492.3(NF1):c.4261C>T (p.Pro1421Ser) rs1347152182
NM_001042492.3(NF1):c.4262C>G (p.Pro1421Arg) rs753997885
NM_001042492.3(NF1):c.4265A>G (p.Tyr1422Cys) rs1555618544
NM_001042492.3(NF1):c.4275G>T (p.Gly1425=)
NM_001042492.3(NF1):c.4277T>C (p.Ile1426Thr) rs1555618549
NM_001042492.3(NF1):c.4288A>G (p.Lys1430Glu)
NM_001042492.3(NF1):c.4292C>T (p.Pro1431Leu) rs2067623603
NM_001042492.3(NF1):c.4294C>T (p.Pro1432Ser) rs1597744750
NM_001042492.3(NF1):c.4295C>T (p.Pro1432Leu) rs1597744755
NM_001042492.3(NF1):c.4298C>G (p.Pro1433Arg) rs1310048288
NM_001042492.3(NF1):c.4301G>A (p.Arg1434Lys) rs1597744780
NM_001042492.3(NF1):c.4305C>G (p.Ile1435Met)
NM_001042492.3(NF1):c.4306G>C (p.Glu1436Gln) rs876660428
NM_001042492.3(NF1):c.4312G>A (p.Gly1438Ser) rs1555618559
NM_001042492.3(NF1):c.4313G>C (p.Gly1438Ala) rs748901190
NM_001042492.3(NF1):c.4313G>T (p.Gly1438Val) rs748901190
NM_001042492.3(NF1):c.4315T>A (p.Leu1439Met) rs1555618562
NM_001042492.3(NF1):c.4316T>G (p.Leu1439Trp) rs1567862071
NM_001042492.3(NF1):c.4324A>G (p.Met1442Val)
NM_001042492.3(NF1):c.4328C>T (p.Ser1443Leu) rs1555618566
NM_001042492.3(NF1):c.4333-13_4333-4delinsAACAGGGTTATAAATA
NM_001042492.3(NF1):c.4333-3T>C rs1597745535
NM_001042492.3(NF1):c.4333-5T>G rs1455774859
NM_001042492.3(NF1):c.4333A>C (p.Ile1445Leu) rs1555618637
NM_001042492.3(NF1):c.4336C>T (p.Leu1446Phe) rs1555618639
NM_001042492.3(NF1):c.433C>T (p.Leu145Phe) rs786203460
NM_001042492.3(NF1):c.4346T>G (p.Ile1449Ser)
NM_001042492.3(NF1):c.434T>A (p.Leu145His) rs199474734
NM_001042492.3(NF1):c.4351A>T (p.Asn1451Tyr)
NM_001042492.3(NF1):c.4352A>C (p.Asn1451Thr) rs199474754
NM_001042492.3(NF1):c.4355A>C (p.His1452Pro)
NM_001042492.3(NF1):c.4355A>G (p.His1452Arg) rs1567862291
NM_001042492.3(NF1):c.4357G>T (p.Val1453Phe) rs199474755
NM_001042492.3(NF1):c.4360C>G (p.Leu1454Val) rs1408832954
NM_001042492.3(NF1):c.4367C>T (p.Thr1456Ile)
NM_001042492.3(NF1):c.4381A>C (p.Met1461Leu)
NM_001042492.3(NF1):c.4381A>G (p.Met1461Val) rs1555618675
NM_001042492.3(NF1):c.4381A>T (p.Met1461Leu) rs1555618675
NM_001042492.3(NF1):c.4395T>G (p.Asn1465Lys)
NM_001042492.3(NF1):c.4396G>T (p.Asp1466Tyr) rs878853895
NM_001042492.3(NF1):c.439T>C (p.Cys147Arg) rs1555606104
NM_001042492.3(NF1):c.4400T>G (p.Phe1467Cys) rs1555618685
NM_001042492.3(NF1):c.4415T>G (p.Phe1472Cys) rs1597745737
NM_001042492.3(NF1):c.4424C>G (p.Ala1475Gly)
NM_001042492.3(NF1):c.4427G>A (p.Arg1476His) rs1555618691
NM_001042492.3(NF1):c.4430+2dup
NM_001042492.3(NF1):c.4430G>A (p.Arg1477Lys) rs1060500293
NM_001042492.3(NF1):c.4431G>A (p.Arg1477=) rs181462219
NM_001042492.3(NF1):c.4435T>C (p.Phe1479Leu)
NM_001042492.3(NF1):c.4436T>C (p.Phe1479Ser) rs2067662458
NM_001042492.3(NF1):c.4437C>G (p.Phe1479Leu) rs757953485
NM_001042492.3(NF1):c.4444A>G (p.Ile1482Val) rs1060500362
NM_001042492.3(NF1):c.4447G>A (p.Ala1483Thr) rs1555618808
NM_001042492.3(NF1):c.4450T>C (p.Ser1484Pro) rs2067662922
NM_001042492.3(NF1):c.4454A>G (p.Asp1485Gly) rs1279391103
NM_001042492.3(NF1):c.4456T>A (p.Cys1486Ser)
NM_001042492.3(NF1):c.4457G>A (p.Cys1486Tyr)
NM_001042492.3(NF1):c.4459C>T (p.Pro1487Ser) rs1265291141
NM_001042492.3(NF1):c.4463C>T (p.Thr1488Ile) rs1597746958
NM_001042492.3(NF1):c.4481A>G (p.His1494Arg) rs769417700
NM_001042492.3(NF1):c.4486C>A (p.Leu1496Ile)
NM_001042492.3(NF1):c.4486C>G (p.Leu1496Val)
NM_001042492.3(NF1):c.4495A>C (p.Ile1499Leu) rs764654925
NM_001042492.3(NF1):c.4495A>T (p.Ile1499Leu) rs764654925
NM_001042492.3(NF1):c.4499G>C (p.Ser1500Thr) rs1555618829
NM_001042492.3(NF1):c.44G>A (p.Ser15Asn) rs1598173852
NM_001042492.3(NF1):c.4502A>G (p.Asp1501Gly) rs1555618835
NM_001042492.3(NF1):c.4507A>C (p.Asn1503His) rs1555618837
NM_001042492.3(NF1):c.4507A>G (p.Asn1503Asp)
NM_001042492.3(NF1):c.4510G>A (p.Val1504Met) rs1555618839
NM_001042492.3(NF1):c.4517C>T (p.Ala1506Val)
NM_001042492.3(NF1):c.4520T>C (p.Leu1507Ser) rs1135402863
NM_001042492.3(NF1):c.4525C>T (p.Arg1509Cys) rs864622348
NM_001042492.3(NF1):c.4528C>G (p.Leu1510Val) rs1597747076
NM_001042492.3(NF1):c.4536G>C (p.Trp1512Cys) rs878853897
NM_001042492.3(NF1):c.4546G>A (p.Glu1516Lys)
NM_001042492.3(NF1):c.4548G>C (p.Glu1516Asp) rs1567863000
NM_001042492.3(NF1):c.4562A>G (p.Tyr1521Cys) rs2067665932
NM_001042492.3(NF1):c.4568C>G (p.Ser1523Cys)
NM_001042492.3(NF1):c.4571_4572delinsAA (p.Ser1524Lys) rs1555618860
NM_001042492.3(NF1):c.4572C>A (p.Ser1524Arg) rs1597747170
NM_001042492.3(NF1):c.4574A>G (p.Asn1525Ser)
NM_001042492.3(NF1):c.4575C>A (p.Asn1525Lys)
NM_001042492.3(NF1):c.4576A>G (p.Arg1526Gly)
NM_001042492.3(NF1):c.4577+4A>G rs1555618863
NM_001042492.3(NF1):c.4580A>T (p.Asp1527Val)
NM_001042492.3(NF1):c.4582C>T (p.His1528Tyr)
NM_001042492.3(NF1):c.4591G>T (p.Val1531Phe)
NM_001042492.3(NF1):c.4607T>C (p.Phe1536Ser)
NM_001042492.3(NF1):c.4615A>G (p.Met1539Val)
NM_001042492.3(NF1):c.4616T>A (p.Met1539Lys) rs1567863578
NM_001042492.3(NF1):c.4628T>C (p.Leu1543Pro)
NM_001042492.3(NF1):c.4633T>C (p.Tyr1545His) rs1555619019
NM_001042492.3(NF1):c.4634A>G (p.Tyr1545Cys) rs1597748795
NM_001042492.3(NF1):c.464G>A (p.Ser155Asn) rs1555606113
NM_001042492.3(NF1):c.4657C>T (p.Pro1553Ser) rs1033427343
NM_001042492.3(NF1):c.4658C>G (p.Pro1553Arg) rs1597748857
NM_001042492.3(NF1):c.4660G>A (p.Val1554Met) rs1319687326
NM_001042492.3(NF1):c.4663G>A (p.Ala1555Thr) rs1597748868
NM_001042492.3(NF1):c.466C>T (p.Arg156Cys) rs755890242
NM_001042492.3(NF1):c.4670C>T (p.Thr1557Ile) rs876660065
NM_001042492.3(NF1):c.4673A>G (p.His1558Arg) rs1597748910
NM_001042492.3(NF1):c.4681A>G (p.Ser1561Gly)
NM_001042492.3(NF1):c.4694C>G (p.Thr1565Ser) rs2067691859
NM_001042492.3(NF1):c.469A>G (p.Ile157Val) rs1555606118
NM_001042492.3(NF1):c.46C>T (p.Arg16Cys) rs1057520334
NM_001042492.3(NF1):c.4700C>T (p.Ser1567Leu) rs1555619051
NM_001042492.3(NF1):c.4706T>C (p.Phe1569Ser)
NM_001042492.3(NF1):c.4721C>T (p.Thr1574Ile) rs1567863650
NM_001042492.3(NF1):c.4725-3T>C rs892441625
NM_001042492.3(NF1):c.4729C>G (p.Gln1577Glu)
NM_001042492.3(NF1):c.4732G>A (p.Val1578Ile) rs1597753156
NM_001042492.3(NF1):c.4736A>C (p.His1579Pro) rs1275751975
NM_001042492.3(NF1):c.4756G>A (p.Ala1586Thr) rs767438491
NM_001042492.3(NF1):c.4756G>T (p.Ala1586Ser) rs767438491
NM_001042492.3(NF1):c.4769T>C (p.Leu1590Ser)
NM_001042492.3(NF1):c.4772G>A (p.Ser1591Asn) rs1597753246
NM_001042492.3(NF1):c.4781A>G (p.Tyr1594Cys) rs1060500303
NM_001042492.3(NF1):c.4787C>G (p.Ala1596Gly) rs1567865042
NM_001042492.3(NF1):c.4789G>A (p.Gly1597Arg)
NM_001042492.3(NF1):c.4790G>A (p.Gly1597Glu)
NM_001042492.3(NF1):c.4792A>G (p.Thr1598Ala)
NM_001042492.3(NF1):c.4795T>C (p.Ser1599Pro)
NM_001042492.3(NF1):c.4796C>G (p.Ser1599Cys) rs1555619407
NM_001042492.3(NF1):c.47G>C (p.Arg16Pro) rs1555594493
NM_001042492.3(NF1):c.480-5T>C rs1555607069
NM_001042492.3(NF1):c.4801G>A (p.Ala1601Thr) rs754651519
NM_001042492.3(NF1):c.4804G>A (p.Gly1602Arg) rs878853898
NM_001042492.3(NF1):c.4805G>A (p.Gly1602Glu)
NM_001042492.3(NF1):c.480G>T (p.Arg160Ser) rs1555607071
NM_001042492.3(NF1):c.4813A>T (p.Ile1605Phe) rs199474766
NM_001042492.3(NF1):c.4822T>G (p.Tyr1608Asp) rs2067766985
NM_001042492.3(NF1):c.4823A>C (p.Tyr1608Ser) rs1555619417
NM_001042492.3(NF1):c.4823A>G (p.Tyr1608Cys) rs1555619417
NM_001042492.3(NF1):c.4829C>T (p.Ala1610Val)
NM_001042492.3(NF1):c.4835G>A (p.Arg1612Lys) rs1555619423
NM_001042492.3(NF1):c.4836G>T (p.Arg1612Ser) rs1555533268
NM_001042492.3(NF1):c.4838T>G (p.Phe1613Cys) rs2151537477
NM_001042492.3(NF1):c.4841A>G (p.Lys1614Arg)
NM_001042492.3(NF1):c.4846G>A (p.Gly1616Ser) rs1555533271
NM_001042492.3(NF1):c.484C>G (p.Gln162Glu) rs1555607073
NM_001042492.3(NF1):c.4856A>G (p.Asn1619Ser) rs1466167635
NM_001042492.3(NF1):c.487G>A (p.Glu163Lys)
NM_001042492.3(NF1):c.4885C>G (p.Leu1629Val)
NM_001042492.3(NF1):c.4889C>T (p.Thr1630Ile)
NM_001042492.3(NF1):c.4892T>C (p.Leu1631Ser) rs1555533292
NM_001042492.3(NF1):c.4894A>C (p.Lys1632Gln) rs1597829604
NM_001042492.3(NF1):c.4922T>C (p.Ile1641Thr) rs1567611281
NM_001042492.3(NF1):c.4924G>A (p.Val1642Ile) rs2151537778
NM_001042492.3(NF1):c.4925T>A (p.Val1642Glu) rs1555533301
NM_001042492.3(NF1):c.4927G>A (p.Val1643Met) rs1060500381
NM_001042492.3(NF1):c.4927_4929delinsATA (p.Val1643Ile) rs1597829655
NM_001042492.3(NF1):c.4928T>C (p.Val1643Ala)
NM_001042492.3(NF1):c.4933C>G (p.Leu1645Val) rs2069328058
NM_001042492.3(NF1):c.4934T>C (p.Leu1645Pro) rs1555533305
NM_001042492.3(NF1):c.4934T>G (p.Leu1645Arg) rs1555533305
NM_001042492.3(NF1):c.4936A>G (p.Thr1646Ala)
NM_001042492.3(NF1):c.4937C>A (p.Thr1646Asn)
NM_001042492.3(NF1):c.4937C>T (p.Thr1646Ile) rs1597829686
NM_001042492.3(NF1):c.4946G>A (p.Gly1649Glu) rs1597829715
NM_001042492.3(NF1):c.4949C>T (p.Pro1650Leu) rs1597829723
NM_001042492.3(NF1):c.494C>G (p.Thr165Ser) rs876660009
NM_001042492.3(NF1):c.4955A>G (p.Asn1652Ser) rs775874538
NM_001042492.3(NF1):c.4956T>A (p.Asn1652Lys) rs1597829740
NM_001042492.3(NF1):c.4961T>C (p.Phe1654Ser) rs1597829760
NM_001042492.3(NF1):c.4966A>G (p.Thr1656Ala)
NM_001042492.3(NF1):c.4967C>T (p.Thr1656Ile)
NM_001042492.3(NF1):c.4969_4970delinsTT (p.Asp1657Phe) rs1597829765
NM_001042492.3(NF1):c.496G>A (p.Val166Ile)
NM_001042492.3(NF1):c.4G>T (p.Ala2Ser) rs2143144232
NM_001042492.3(NF1):c.4_5delinsTT (p.Ala2Phe) rs1555594471
NM_001042492.3(NF1):c.5000C>T (p.Pro1667Leu)
NM_001042492.3(NF1):c.5003G>T (p.Gly1668Val) rs1555533332
NM_001042492.3(NF1):c.5007T>G (p.Phe1669Leu) rs761807609
NM_001042492.3(NF1):c.5015A>T (p.Asp1672Val) rs1555533338
NM_001042492.3(NF1):c.5018A>G (p.Asn1673Ser) rs1201910133
NM_001042492.3(NF1):c.5020G>A (p.Val1674Ile) rs1555533342
NM_001042492.3(NF1):c.5026G>T (p.Ala1676Ser) rs756450772
NM_001042492.3(NF1):c.5033A>C (p.Tyr1678Ser) rs1555533347
NM_001042492.3(NF1):c.5033A>G (p.Tyr1678Cys) rs1555533347
NM_001042492.3(NF1):c.5039A>G (p.Tyr1680Cys) rs758361270
NM_001042492.3(NF1):c.5057T>A (p.Val1686Asp)
NM_001042492.3(NF1):c.5059A>G (p.Arg1687Gly) rs746461616
NM_001042492.3(NF1):c.5060_5069delinsTGTA (p.Arg1687_Thr1690delinsMetTyr)
NM_001042492.3(NF1):c.5073G>T (p.Lys1691Asn)
NM_001042492.3(NF1):c.5074T>A (p.Tyr1692Asn) rs1597829956
NM_001042492.3(NF1):c.5083C>T (p.Arg1695Trp) rs1567611500
NM_001042492.3(NF1):c.5095G>A (p.Gly1699Ser) rs1597830004
NM_001042492.3(NF1):c.5096G>A (p.Gly1699Asp) rs2069333669
NM_001042492.3(NF1):c.50T>C (p.Phe17Ser) rs1911557433
NM_001042492.3(NF1):c.5101A>G (p.Lys1701Glu)
NM_001042492.3(NF1):c.5107A>G (p.Ser1703Gly) rs1555533374
NM_001042492.3(NF1):c.510C>A (p.Asp170Glu) rs1597643788
NM_001042492.3(NF1):c.5110A>G (p.Lys1704Glu)
NM_001042492.3(NF1):c.5111A>G (p.Lys1704Arg)
NM_001042492.3(NF1):c.512A>T (p.Asn171Ile)
NM_001042492.3(NF1):c.5134C>A (p.Pro1712Thr) rs1567611556
NM_001042492.3(NF1):c.5134C>T (p.Pro1712Ser) rs1567611556
NM_001042492.3(NF1):c.5135C>T (p.Pro1712Leu)
NM_001042492.3(NF1):c.5143C>G (p.Leu1715Val)
NM_001042492.3(NF1):c.5144T>C (p.Leu1715Pro) rs2151538677
NM_001042492.3(NF1):c.5146G>A (p.Ala1716Thr) rs767469374
NM_001042492.3(NF1):c.5152C>T (p.His1718Tyr) rs1555533381
NM_001042492.3(NF1):c.5155A>G (p.Ile1719Val) rs1434439252
NM_001042492.3(NF1):c.5156T>C (p.Ile1719Thr) rs1597830137
NM_001042492.3(NF1):c.5162A>C (p.His1721Pro)
NM_001042492.3(NF1):c.5162A>G (p.His1721Arg) rs1597830164
NM_001042492.3(NF1):c.5162A>T (p.His1721Leu)
NM_001042492.3(NF1):c.5166A>T (p.Glu1722Asp) rs1597830174
NM_001042492.3(NF1):c.5168A>G (p.Gln1723Arg)
NM_001042492.3(NF1):c.5175A>T (p.Lys1725Asn)
NM_001042492.3(NF1):c.5179C>T (p.Pro1727Ser)
NM_001042492.3(NF1):c.5180C>T (p.Pro1727Leu)
NM_001042492.3(NF1):c.5186C>T (p.Ala1729Val)
NM_001042492.3(NF1):c.5188A>G (p.Thr1730Ala)
NM_001042492.3(NF1):c.5195C>G (p.Ala1732Gly) rs202037436
NM_001042492.3(NF1):c.520G>A (p.Val174Ile) rs1555607084
NM_001042492.3(NF1):c.520G>T (p.Val174Phe) rs1555607084
NM_001042492.3(NF1):c.5210T>C (p.Leu1737Pro)
NM_001042492.3(NF1):c.5215G>A (p.Val1739Ile)
NM_001042492.3(NF1):c.5221C>A (p.His1741Asn) rs780529277
NM_001042492.3(NF1):c.5222A>T (p.His1741Leu) rs1555533402
NM_001042492.3(NF1):c.5227G>C (p.Ala1743Pro) rs878853900
NM_001042492.3(NF1):c.5228C>G (p.Ala1743Gly)
NM_001042492.3(NF1):c.5240C>G (p.Ala1747Gly)
NM_001042492.3(NF1):c.5240C>T (p.Ala1747Val)
NM_001042492.3(NF1):c.5244C>G (p.His1748Gln)
NM_001042492.3(NF1):c.5245A>G (p.Lys1749Glu) rs2069338050
NM_001042492.3(NF1):c.5246A>G (p.Lys1749Arg)
NM_001042492.3(NF1):c.5252C>T (p.Thr1751Ile)
NM_001042492.3(NF1):c.5253C>A (p.Thr1751=) rs768884582
NM_001042492.3(NF1):c.5260T>C (p.Ser1754Pro)
NM_001042492.3(NF1):c.5260T>G (p.Ser1754Ala)
NM_001042492.3(NF1):c.5261C>A (p.Ser1754Tyr)
NM_001042492.3(NF1):c.5261C>G (p.Ser1754Cys)
NM_001042492.3(NF1):c.5268+2T>A
NM_001042492.3(NF1):c.5268+2dup
NM_001042492.3(NF1):c.5268+3A>T
NM_001042492.3(NF1):c.526G>T (p.Asp176Tyr)
NM_001042492.3(NF1):c.5275T>C (p.Ser1759Pro) rs2069375050
NM_001042492.3(NF1):c.5276C>A (p.Ser1759Tyr)
NM_001042492.3(NF1):c.5281G>A (p.Ala1761Thr) rs2069375243
NM_001042492.3(NF1):c.5281G>C (p.Ala1761Pro) rs2069375243
NM_001042492.3(NF1):c.5282C>T (p.Ala1761Val)
NM_001042492.3(NF1):c.5290G>T (p.Val1764Leu) rs778427434
NM_001042492.3(NF1):c.5299G>A (p.Ala1767Thr) rs529905904
NM_001042492.3(NF1):c.5306G>A (p.Arg1769Gln) rs1555533559
NM_001042492.3(NF1):c.5317C>G (p.Leu1773Val)
NM_001042492.3(NF1):c.5318T>C (p.Leu1773Pro) rs1597831917
NM_001042492.3(NF1):c.531A>G (p.Ile177Met)
NM_001042492.3(NF1):c.5321G>A (p.Gly1774Glu)
NM_001042492.3(NF1):c.5332T>C (p.Phe1778Leu)
NM_001042492.3(NF1):c.5344A>C (p.Ile1782Leu) rs1160436761
NM_001042492.3(NF1):c.5348A>G (p.Tyr1783Cys) rs1597831963
NM_001042492.3(NF1):c.5351A>G (p.Tyr1784Cys) rs1060500280
NM_001042492.3(NF1):c.5353G>A (p.Ala1785Thr)
NM_001042492.3(NF1):c.5365G>A (p.Glu1789Lys)
NM_001042492.3(NF1):c.5365G>C (p.Glu1789Gln) rs1555533571
NM_001042492.3(NF1):c.5366A>G (p.Glu1789Gly) rs1555533573
NM_001042492.3(NF1):c.5371A>G (p.Ile1791Val)
NM_001042492.3(NF1):c.5377C>A (p.Leu1793Ile) rs761676110
NM_001042492.3(NF1):c.537G>T (p.Leu179Phe)
NM_001042492.3(NF1):c.5380G>A (p.Val1794Ile) rs1555533574
NM_001042492.3(NF1):c.5385T>G (p.Asp1795Glu) rs1135402870
NM_001042492.3(NF1):c.5390A>G (p.Asn1797Ser)
NM_001042492.3(NF1):c.5391_5393dup (p.Asn1797_Gln1798insHis)
NM_001042492.3(NF1):c.53A>G (p.Asp18Gly)
NM_001042492.3(NF1):c.5407A>T (p.Ile1803Phe)
NM_001042492.3(NF1):c.5409T>G (p.Ile1803Met) rs2069379800
NM_001042492.3(NF1):c.540A>C (p.Leu180Phe) rs1597643865
NM_001042492.3(NF1):c.5413A>G (p.Asn1805Asp) rs1287561681
NM_001042492.3(NF1):c.5423C>A (p.Thr1808Lys) rs760649828
NM_001042492.3(NF1):c.5429T>C (p.Leu1810Pro)
NM_001042492.3(NF1):c.5431A>G (p.Thr1811Ala)
NM_001042492.3(NF1):c.5438T>C (p.Met1813Thr)
NM_001042492.3(NF1):c.5440C>T (p.His1814Tyr) rs1036523228
NM_001042492.3(NF1):c.5442C>G (p.His1814Gln) rs991848606
NM_001042492.3(NF1):c.544T>G (p.Tyr182Asp) rs1597643876
NM_001042492.3(NF1):c.5450G>A (p.Cys1817Tyr) rs1555533589
NM_001042492.3(NF1):c.5450G>T (p.Cys1817Phe) rs1555533589
NM_001042492.3(NF1):c.5456C>T (p.Ala1819Val) rs1555533590
NM_001042492.3(NF1):c.5458A>G (p.Ile1820Val) rs786202459
NM_001042492.3(NF1):c.5459T>C (p.Ile1820Thr) rs1597832129
NM_001042492.3(NF1):c.545A>G (p.Tyr182Cys) rs2143707725
NM_001042492.3(NF1):c.5461G>A (p.Val1821Ile)
NM_001042492.3(NF1):c.5461G>C (p.Val1821Leu) rs1597832135
NM_001042492.3(NF1):c.5465A>C (p.Gln1822Pro) rs1060500328
NM_001042492.3(NF1):c.5467T>C (p.Ser1823Pro) rs1555533592
NM_001042492.3(NF1):c.5471T>G (p.Ile1824Ser)
NM_001042492.3(NF1):c.5476C>T (p.His1826Tyr)
NM_001042492.3(NF1):c.5477A>G (p.His1826Arg) rs878853902
NM_001042492.3(NF1):c.5479A>G (p.Ile1827Val) rs1299780528
NM_001042492.3(NF1):c.5480T>G (p.Ile1827Ser)
NM_001042492.3(NF1):c.5481C>G (p.Ile1827Met) rs1555533607
NM_001042492.3(NF1):c.5482C>T (p.Arg1828Trp) rs1555533609
NM_001042492.3(NF1):c.5486C>A (p.Thr1829Asn)
NM_001042492.3(NF1):c.5489G>A (p.Arg1830His) rs771529172
NM_001042492.3(NF1):c.5494G>C (p.Glu1832Gln)
NM_001042492.3(NF1):c.5497C>G (p.Leu1833Val) rs372932380
NM_001042492.3(NF1):c.5505G>T (p.Gln1835His) rs1555533615
NM_001042492.3(NF1):c.5516T>C (p.Ile1839Thr) rs1597832296
NM_001042492.3(NF1):c.551A>T (p.Asn184Ile)
NM_001042492.3(NF1):c.5522A>G (p.Gln1841Arg)
NM_001042492.3(NF1):c.5524C>G (p.His1842Asp) rs1597832336
NM_001042492.3(NF1):c.5524C>T (p.His1842Tyr)
NM_001042492.3(NF1):c.5532G>T (p.Lys1844Asn) rs2151541680
NM_001042492.3(NF1):c.5536C>G (p.Arg1846Gly) rs769843989
NM_001042492.3(NF1):c.5537G>A (p.Arg1846Gln) rs2069384348
NM_001042492.3(NF1):c.5539C>T (p.Pro1847Ser) rs2069384394
NM_001042492.3(NF1):c.5540C>G (p.Pro1847Arg) rs1555533631
NM_001042492.3(NF1):c.5545G>C (p.Asp1849His)
NM_001042492.3(NF1):c.5546A>G (p.Asp1849Gly)
NM_001042492.3(NF1):c.5548G>A (p.Val1850Ile) rs1597832397
NM_001042492.3(NF1):c.5563C>T (p.Leu1855Phe) rs2069385474
NM_001042492.3(NF1):c.5564T>C (p.Leu1855Pro) rs2069385520
NM_001042492.3(NF1):c.5566A>G (p.Asn1856Asp)
NM_001042492.3(NF1):c.5571C>G (p.Ile1857Met) rs771837192
NM_001042492.3(NF1):c.5572G>T (p.Ala1858Ser) rs786203416
NM_001042492.3(NF1):c.5582A>G (p.Asn1861Ser) rs1555533647
NM_001042492.3(NF1):c.5588G>A (p.Gly1863Asp) rs1597832460
NM_001042492.3(NF1):c.5594C>G (p.Ser1865Cys)
NM_001042492.3(NF1):c.5597A>G (p.Asp1866Gly)
NM_001042492.3(NF1):c.55G>A (p.Glu19Lys) rs786203307
NM_001042492.3(NF1):c.5610-5C>G rs2151544379
NM_001042492.3(NF1):c.5617G>A (p.Ala1873Thr) rs1597834618
NM_001042492.3(NF1):c.5621A>T (p.Tyr1874Phe)
NM_001042492.3(NF1):c.5636C>T (p.Ala1879Val) rs1555533845
NM_001042492.3(NF1):c.5642C>T (p.Thr1881Ile) rs876658349
NM_001042492.3(NF1):c.5645G>A (p.Cys1882Tyr) rs1597834656
NM_001042492.3(NF1):c.5648C>T (p.Thr1883Ile)
NM_001042492.3(NF1):c.5668G>A (p.Gly1890Ser)
NM_001042492.3(NF1):c.5669G>T (p.Gly1890Val) rs1567613630
NM_001042492.3(NF1):c.5673G>T (p.Gln1891His) rs1555533857
NM_001042492.3(NF1):c.5677C>G (p.Leu1893Val)
NM_001042492.3(NF1):c.5690G>T (p.Gly1897Val) rs1597834751
NM_001042492.3(NF1):c.5705C>A (p.Ala1902Asp) rs1465309384
NM_001042492.3(NF1):c.5705C>G (p.Ala1902Gly)
NM_001042492.3(NF1):c.5705C>T (p.Ala1902Val) rs1465309384
NM_001042492.3(NF1):c.5709C>G (p.Asn1903Lys) rs1597834780
NM_001042492.3(NF1):c.5721T>A (p.Phe1907Leu) rs1555533868
NM_001042492.3(NF1):c.5725G>A (p.Val1909Ile)
NM_001042492.3(NF1):c.5729C>G (p.Ser1910Cys) rs751904277
NM_001042492.3(NF1):c.5743C>G (p.Leu1915Val)
NM_001042492.3(NF1):c.5747C>T (p.Ala1916Val)
NM_001042492.3(NF1):c.5750C>A (p.Ala1917Asp) rs2069452996
NM_001042492.3(NF1):c.5752A>G (p.Asn1918Asp)
NM_001042492.3(NF1):c.5764C>T (p.Leu1922Phe) rs1597834892
NM_001042492.3(NF1):c.5785G>C (p.Glu1929Gln)
NM_001042492.3(NF1):c.5788T>A (p.Cys1930Ser) rs2069454402
NM_001042492.3(NF1):c.5792T>A (p.Ile1931Asn)
NM_001042492.3(NF1):c.5801T>G (p.Phe1934Cys) rs2151544987
NM_001042492.3(NF1):c.5810C>A (p.Ser1937Tyr)
NM_001042492.3(NF1):c.5812+2dup rs1597834973
NM_001042492.3(NF1):c.5812+3A>G rs1597834976
NM_001042492.3(NF1):c.5812A>G (p.Ser1938Gly) rs1555533885
NM_001042492.3(NF1):c.5813-3C>T rs2151550224
NM_001042492.3(NF1):c.5813G>A (p.Ser1938Asn) rs906075234
NM_001042492.3(NF1):c.5815A>G (p.Ile1939Val) rs1173859882
NM_001042492.3(NF1):c.5816T>C (p.Ile1939Thr) rs1304057833
NM_001042492.3(NF1):c.5834G>A (p.Cys1945Tyr)
NM_001042492.3(NF1):c.5837T>G (p.Leu1946Trp) rs1597840024
NM_001042492.3(NF1):c.5851C>G (p.Pro1951Ala) rs1555534391
NM_001042492.3(NF1):c.5852C>A (p.Pro1951Gln)
NM_001042492.3(NF1):c.586+4A>G rs1597644028
NM_001042492.3(NF1):c.5866C>A (p.Leu1956Ile) rs747678243
NM_001042492.3(NF1):c.5867T>C (p.Leu1956Pro) rs1597840087
NM_001042492.3(NF1):c.5867T>G (p.Leu1956Arg) rs1597840087
NM_001042492.3(NF1):c.587-3C>G rs375188075
NM_001042492.3(NF1):c.5870T>G (p.Val1957Gly)
NM_001042492.3(NF1):c.5885A>G (p.His1962Arg) rs1555534402
NM_001042492.3(NF1):c.5887_5889del (p.Asn1963del) rs1555534403
NM_001042492.3(NF1):c.589A>G (p.Thr197Ala) rs1171626658
NM_001042492.3(NF1):c.58C>G (p.Gln20Glu) rs1567786905
NM_001042492.3(NF1):c.5900A>G (p.Lys1967Arg) rs1567615807
NM_001042492.3(NF1):c.5903G>A (p.Arg1968Gln)
NM_001042492.3(NF1):c.5920A>G (p.Ile1974Val) rs1597840159
NM_001042492.3(NF1):c.5924T>A (p.Leu1975His) rs1555534411
NM_001042492.3(NF1):c.592G>A (p.Ala198Thr) rs1555608643
NM_001042492.3(NF1):c.5937A>G (p.Ile1979Met) rs1555534418
NM_001042492.3(NF1):c.5939C>T (p.Thr1980Ile) rs1060500336
NM_001042492.3(NF1):c.5961G>C (p.Gln1987His) rs757536610
NM_001042492.3(NF1):c.596T>A (p.Phe199Tyr)
NM_001042492.3(NF1):c.5971T>A (p.Ser1991Thr)
NM_001042492.3(NF1):c.5989T>C (p.Trp1997Arg) rs1597840306
NM_001042492.3(NF1):c.5995A>T (p.Ser1999Cys) rs753703741
NM_001042492.3(NF1):c.5998C>G (p.Leu2000Val) rs1555534429
NM_001042492.3(NF1):c.5998C>T (p.Leu2000Phe) rs1555534429
NM_001042492.3(NF1):c.59A>G (p.Gln20Arg) rs1598173901
NM_001042492.3(NF1):c.60+4A>G rs1911560774
NM_001042492.3(NF1):c.6009T>G (p.Ile2003Met)
NM_001042492.3(NF1):c.6011C>T (p.Thr2004Ile) rs1597842207
NM_001042492.3(NF1):c.6028G>C (p.Val2010Leu)
NM_001042492.3(NF1):c.6037A>G (p.Ser2013Gly) rs876658710
NM_001042492.3(NF1):c.6038G>A (p.Ser2013Asn) rs1567616663
NM_001042492.3(NF1):c.6052A>C (p.Ser2018Arg) rs2151553286
NM_001042492.3(NF1):c.6056C>T (p.Ala2019Val) rs1567616673
NM_001042492.3(NF1):c.6058A>G (p.Thr2020Ala) rs1597842258
NM_001042492.3(NF1):c.6062G>A (p.Gly2021Asp) rs1555534605
NM_001042492.3(NF1):c.6065G>T (p.Gly2022Val) rs1555534606
NM_001042492.3(NF1):c.6076A>G (p.Ile2026Val) rs1376868609
NM_001042492.3(NF1):c.6089T>C (p.Val2030Ala)
NM_001042492.3(NF1):c.6091A>T (p.Met2031Leu)
NM_001042492.3(NF1):c.6093G>A (p.Met2031Ile) rs1597842296
NM_001042492.3(NF1):c.6099T>A (p.Asp2033Glu) rs1597842300
NM_001042492.3(NF1):c.60G>A (p.Gln20=)
NM_001042492.3(NF1):c.6116C>T (p.Ala2039Val) rs1555534614
NM_001042492.3(NF1):c.6121G>A (p.Gly2041Arg) rs1555534616
NM_001042492.3(NF1):c.6124A>G (p.Asn2042Asp) rs2151553540
NM_001042492.3(NF1):c.6130A>G (p.Lys2044Glu)
NM_001042492.3(NF1):c.6146A>C (p.Lys2049Thr)
NM_001042492.3(NF1):c.6146A>T (p.Lys2049Met)
NM_001042492.3(NF1):c.6147+3A>G rs1014307120
NM_001042492.3(NF1):c.6147G>C (p.Lys2049Asn) rs1135402882
NM_001042492.3(NF1):c.6148-4A>T rs1597842686
NM_001042492.3(NF1):c.6148-5T>C rs1597842678
NM_001042492.3(NF1):c.6148G>A (p.Val2050Ile)
NM_001042492.3(NF1):c.614A>G (p.Lys205Arg) rs1555608659
NM_001042492.3(NF1):c.6159G>C (p.Arg2053Ser)
NM_001042492.3(NF1):c.615G>A (p.Lys205=) rs1135402794
NM_001042492.3(NF1):c.6162G>A (p.Met2054Ile) rs876660651
NM_001042492.3(NF1):c.6166A>C (p.Lys2056Gln) rs1555534667
NM_001042492.3(NF1):c.6170T>C (p.Ile2057Thr)
NM_001042492.3(NF1):c.6175G>A (p.Asp2059Asn) rs761029453
NM_001042492.3(NF1):c.6185G>C (p.Cys2062Ser) rs1555534668
NM_001042492.3(NF1):c.618G>C (p.Lys206Asn) rs1567825917
NM_001042492.3(NF1):c.61C>A (p.Leu21Ile)
NM_001042492.3(NF1):c.6203C>G (p.Thr2068Ser) rs876659172
NM_001042492.3(NF1):c.6212A>G (p.Gln2071Arg) rs1597842800
NM_001042492.3(NF1):c.6226G>T (p.Asp2076Tyr)
NM_001042492.3(NF1):c.6227A>G (p.Asp2076Gly) rs1597842820
NM_001042492.3(NF1):c.6229G>A (p.Asp2077Asn) rs1597842830
NM_001042492.3(NF1):c.6230A>T (p.Asp2077Val) rs1555534684
NM_001042492.3(NF1):c.6238A>G (p.Ile2080Val) rs2069684102
NM_001042492.3(NF1):c.6257T>C (p.Leu2086Pro)
NM_001042492.3(NF1):c.6263T>C (p.Leu2088Pro) rs137854561
NM_001042492.3(NF1):c.6268T>C (p.Phe2090Leu) rs2069685496
NM_001042492.3(NF1):c.6270C>G (p.Phe2090Leu) rs1597842872
NM_001042492.3(NF1):c.6272A>G (p.Asn2091Ser) rs1555534696
NM_001042492.3(NF1):c.6295C>G (p.His2099Asp)
NM_001042492.3(NF1):c.6295C>T (p.His2099Tyr) rs1060500382
NM_001042492.3(NF1):c.6296A>G (p.His2099Arg)
NM_001042492.3(NF1):c.6302C>G (p.Pro2101Arg) rs756746198
NM_001042492.3(NF1):c.6305A>T (p.Tyr2102Phe) rs1162388561
NM_001042492.3(NF1):c.6307C>T (p.Leu2103Phe) rs1555534719
NM_001042492.3(NF1):c.6316GTT[3] (p.Val2107_Thr2108insVal)
NM_001042492.3(NF1):c.6317T>C (p.Val2106Ala) rs1597843007
NM_001042492.3(NF1):c.632C>T (p.Ala211Val) rs1555608675
NM_001042492.3(NF1):c.6344C>G (p.Pro2115Arg) rs867091831
NM_001042492.3(NF1):c.6344C>T (p.Pro2115Leu) rs867091831
NM_001042492.3(NF1):c.6346C>G (p.Leu2116Val)
NM_001042492.3(NF1):c.6365C>T (p.Thr2122Ile) rs878853907
NM_001042492.3(NF1):c.6368A>T (p.His2123Leu) rs112546213
NM_001042492.3(NF1):c.6370G>A (p.Gly2124Arg)
NM_001042492.3(NF1):c.6379A>T (p.Ile2127Phe)
NM_001042492.3(NF1):c.6385A>G (p.Ile2129Val) rs2151555054
NM_001042492.3(NF1):c.638T>C (p.Ile213Thr)
NM_001042492.3(NF1):c.6403A>C (p.Thr2135Pro) rs1555534767
NM_001042492.3(NF1):c.6403A>T (p.Thr2135Ser) rs1555534767
NM_001042492.3(NF1):c.6424A>C (p.Ser2142Arg) rs1135402886
NM_001042492.3(NF1):c.6425G>T (p.Ser2142Ile)
NM_001042492.3(NF1):c.6427+3A>G
NM_001042492.3(NF1):c.6427+5G>A rs1060500311
NM_001042492.3(NF1):c.6428-5T>C rs1597843627
NM_001042492.3(NF1):c.6432G>C (p.Glu2144Asp)
NM_001042492.3(NF1):c.6436A>G (p.Lys2146Glu) rs1597843675
NM_001042492.3(NF1):c.6437A>G (p.Lys2146Arg) rs1597843678
NM_001042492.3(NF1):c.6440A>G (p.Gln2147Arg) rs1597843700
NM_001042492.3(NF1):c.6441A>C (p.Gln2147His) rs1597843705
NM_001042492.3(NF1):c.644G>C (p.Ser215Thr)
NM_001042492.3(NF1):c.6482T>A (p.Phe2161Tyr)
NM_001042492.3(NF1):c.6488T>C (p.Leu2163Ser) rs1353492847
NM_001042492.3(NF1):c.6497G>T (p.Gly2166Val)
NM_001042492.3(NF1):c.6499A>C (p.Ile2167Leu) rs2069704731
NM_001042492.3(NF1):c.6520G>A (p.Ala2174Thr) rs2069705000
NM_001042492.3(NF1):c.6523G>A (p.Val2175Ile)
NM_001042492.3(NF1):c.6526A>G (p.Ile2176Val) rs2069705304
NM_001042492.3(NF1):c.6535C>T (p.Arg2179Cys) rs878853908
NM_001042492.3(NF1):c.6536G>A (p.Arg2179His) rs772639479
NM_001042492.3(NF1):c.6545A>G (p.Tyr2182Cys) rs2069705839
NM_001042492.3(NF1):c.6548G>A (p.Arg2183Gln) rs2069706142
NM_001042492.3(NF1):c.655-5T>C rs377264487
NM_001042492.3(NF1):c.6550G>A (p.Asp2184Asn) rs1597843887
NM_001042492.3(NF1):c.6550G>C (p.Asp2184His)
NM_001042492.3(NF1):c.6559T>G (p.Phe2187Val)
NM_001042492.3(NF1):c.6563C>T (p.Ser2188Phe) rs1555534877
NM_001042492.3(NF1):c.6569G>T (p.Gly2190Val)
NM_001042492.3(NF1):c.656C>G (p.Ala219Gly) rs1160353919
NM_001042492.3(NF1):c.656C>T (p.Ala219Val) rs1160353919
NM_001042492.3(NF1):c.6571T>G (p.Ser2191Ala)
NM_001042492.3(NF1):c.6572C>G (p.Ser2191Cys) rs765598479
NM_001042492.3(NF1):c.6574T>C (p.Tyr2192His) rs267606598
NM_001042492.3(NF1):c.6583G>C (p.Glu2195Gln) rs1597843959
NM_001042492.3(NF1):c.6592G>A (p.Ala2198Thr) rs1555534882
NM_001042492.3(NF1):c.6593C>G (p.Ala2198Gly) rs1597843976
NM_001042492.3(NF1):c.6597G>C (p.Leu2199Phe) rs2151556504
NM_001042492.3(NF1):c.6602C>T (p.Ser2201Phe) rs2151556524
NM_001042492.3(NF1):c.6611C>T (p.Thr2204Ile) rs1597843996
NM_001042492.3(NF1):c.6616A>C (p.Thr2206Pro)
NM_001042492.3(NF1):c.6630G>C (p.Leu2210Phe) rs886052801
NM_001042492.3(NF1):c.6635T>A (p.Ile2212Asn) rs1597844075
NM_001042492.3(NF1):c.6642+3A>G rs1555534891
NM_001042492.3(NF1):c.6642+5A>G rs1567617536
NM_001042492.3(NF1):c.6643-4T>C rs1555534908
NM_001042492.3(NF1):c.6643-5T>G rs1555534907
NM_001042492.3(NF1):c.6646T>C (p.Cys2216Arg) rs757736155
NM_001042492.3(NF1):c.6647G>A (p.Cys2216Tyr)
NM_001042492.3(NF1):c.6647G>T (p.Cys2216Phe) rs1567617669
NM_001042492.3(NF1):c.6656A>G (p.Asp2219Gly)
NM_001042492.3(NF1):c.6657T>G (p.Asp2219Glu) rs786203831
NM_001042492.3(NF1):c.6679G>A (p.Asp2227Asn) rs993364800
NM_001042492.3(NF1):c.6681C>A (p.Asp2227Glu) rs876659371
NM_001042492.3(NF1):c.6683A>G (p.Gln2228Arg)
NM_001042492.3(NF1):c.6691G>A (p.Glu2231Lys) rs1024484381
NM_001042492.3(NF1):c.6691G>C (p.Glu2231Gln)
NM_001042492.3(NF1):c.6694C>G (p.Leu2232Val) rs1597844673
NM_001042492.3(NF1):c.6698C>T (p.Ala2233Val)
NM_001042492.3(NF1):c.6701A>G (p.Gln2234Arg) rs1597844689
NM_001042492.3(NF1):c.6704+4T>C rs1555534930
NM_001042492.3(NF1):c.6704G>T (p.Arg2235Ile) rs2069719031
NM_001042492.3(NF1):c.6705-4del
NM_001042492.3(NF1):c.6713T>C (p.Phe2238Ser) rs1555534947
NM_001042492.3(NF1):c.6714C>A (p.Phe2238Leu) rs2069724756
NM_001042492.3(NF1):c.6746T>G (p.Leu2249Arg) rs2151558158
NM_001042492.3(NF1):c.6756T>G (p.Phe2252Leu) rs1597845056
NM_001042492.3(NF1):c.6763A>C (p.Ile2255Leu)
NM_001042492.3(NF1):c.6775G>A (p.Val2259Met) rs1348782175
NM_001042492.3(NF1):c.6775G>T (p.Val2259Leu)
NM_001042492.3(NF1):c.6776T>C (p.Val2259Ala) rs1597845104
NM_001042492.3(NF1):c.677A>C (p.Asn226Thr) rs770339628
NM_001042492.3(NF1):c.6782A>T (p.His2261Leu)
NM_001042492.3(NF1):c.6784G>T (p.Gly2262Trp) rs1392981001
NM_001042492.3(NF1):c.6790A>G (p.Ile2264Val) rs761213794
NM_001042492.3(NF1):c.6793A>G (p.Lys2265Glu)
NM_001042492.3(NF1):c.679T>C (p.Tyr227His) rs780682850
NM_001042492.3(NF1):c.6800T>C (p.Ile2267Thr) rs1555534957
NM_001042492.3(NF1):c.6805C>T (p.Arg2269Cys) rs1555534961
NM_001042492.3(NF1):c.6808A>G (p.Ile2270Val)
NM_001042492.3(NF1):c.6811C>G (p.Leu2271Val)
NM_001042492.3(NF1):c.6819+4C>A rs755135948
NM_001042492.3(NF1):c.6820-3A>G
NM_001042492.3(NF1):c.6826G>A (p.Glu2276Lys) rs2069742475
NM_001042492.3(NF1):c.6845C>G (p.Pro2282Arg) rs2069743547
NM_001042492.3(NF1):c.6853T>C (p.Tyr2285His)
NM_001042492.3(NF1):c.6854_6855insTGA (p.Tyr2285_Asn2286insAsp)
NM_001042492.3(NF1):c.6858C>G (p.Asn2286Lys) rs2151559216
NM_001042492.3(NF1):c.685G>C (p.Asp229His) rs2066138591
NM_001042492.3(NF1):c.6869T>G (p.Leu2290Arg)
NM_001042492.3(NF1):c.686A>G (p.Asp229Gly) rs1060500285
NM_001042492.3(NF1):c.6872T>C (p.Ile2291Thr)
NM_001042492.3(NF1):c.6887T>C (p.Ile2296Thr) rs1212022548
NM_001042492.3(NF1):c.688G>C (p.Glu230Gln)
NM_001042492.3(NF1):c.6892C>A (p.Leu2298Ile) rs1555535049
NM_001042492.3(NF1):c.6893T>C (p.Leu2298Pro) rs1597846070
NM_001042492.3(NF1):c.6896C>A (p.Thr2299Asn)
NM_001042492.3(NF1):c.689A>G (p.Glu230Gly)
NM_001042492.3(NF1):c.6905A>G (p.Gln2302Arg)
NM_001042492.3(NF1):c.6906G>T (p.Gln2302His)
NM_001042492.3(NF1):c.6917A>G (p.Asn2306Ser) rs1597846107
NM_001042492.3(NF1):c.6918T>A (p.Asn2306Lys) rs1597846111
NM_001042492.3(NF1):c.6922-4C>T rs2069789284
NM_001042492.3(NF1):c.6922G>A (p.Asp2308Asn) rs775660003
NM_001042492.3(NF1):c.6926C>T (p.Ser2309Leu) rs1555535159
NM_001042492.3(NF1):c.6931C>G (p.Leu2311Val) rs1044698498
NM_001042492.3(NF1):c.693_694delinsCT (p.Thr232Ser) rs1555608748
NM_001042492.3(NF1):c.6946T>C (p.Phe2316Leu)
NM_001042492.3(NF1):c.6948T>G (p.Phe2316Leu) rs1597847958
NM_001042492.3(NF1):c.694A>G (p.Thr232Ala) rs876660027
NM_001042492.3(NF1):c.6952G>T (p.Val2318Leu) rs760528229
NM_001042492.3(NF1):c.6955G>T (p.Ala2319Ser) rs786203881
NM_001042492.3(NF1):c.695C>T (p.Thr232Ile) rs769719064
NM_001042492.3(NF1):c.6973C>A (p.Leu2325Ile) rs1597848038
NM_001042492.3(NF1):c.6976G>C (p.Asp2326His)
NM_001042492.3(NF1):c.6980A>T (p.Glu2327Val) rs1555535175
NM_001042492.3(NF1):c.6982G>A (p.Val2328Ile) rs1597848066
NM_001042492.3(NF1):c.6985A>G (p.Asn2329Asp) rs1597848075
NM_001042492.3(NF1):c.6994T>G (p.Ser2332Ala)
NM_001042492.3(NF1):c.6997G>T (p.Ala2333Ser) rs1555535178
NM_001042492.3(NF1):c.699A>C (p.Lys233Asn) rs1597658628
NM_001042492.3(NF1):c.69A>G (p.Ile23Met) rs1555604870
NM_001042492.3(NF1):c.7000G>A (p.Gly2334Ser) rs1597848100
NM_001042492.3(NF1):c.7001G>T (p.Gly2334Val)
NM_001042492.3(NF1):c.7004C>T (p.Thr2335Ile)
NM_001042492.3(NF1):c.7006G>T (p.Ala2336Ser) rs587781428
NM_001042492.3(NF1):c.702_703inv (p.Tyr235His)
NM_001042492.3(NF1):c.7030A>G (p.Thr2344Ala) rs1555535189
NM_001042492.3(NF1):c.7031C>T (p.Thr2344Ile) rs2069793613
NM_001042492.3(NF1):c.7033T>G (p.Leu2345Val)
NM_001042492.3(NF1):c.7036G>T (p.Asp2346Tyr)
NM_001042492.3(NF1):c.7037A>G (p.Asp2346Gly) rs2151561935
NM_001042492.3(NF1):c.7038T>G (p.Asp2346Glu)
NM_001042492.3(NF1):c.7040G>C (p.Ser2347Thr) rs1567619102
NM_001042492.3(NF1):c.7042C>T (p.Leu2348Phe)
NM_001042492.3(NF1):c.7043T>G (p.Leu2348Arg) rs1597848222
NM_001042492.3(NF1):c.7046G>T (p.Arg2349Leu) rs864622065
NM_001042492.3(NF1):c.7048A>C (p.Ile2350Leu) rs1381254564
NM_001042492.3(NF1):c.7048A>G (p.Ile2350Val)
NM_001042492.3(NF1):c.7048A>T (p.Ile2350Leu)
NM_001042492.3(NF1):c.7049T>A (p.Ile2350Lys) rs2069794814
NM_001042492.3(NF1):c.7049T>C (p.Ile2350Thr)
NM_001042492.3(NF1):c.7052T>A (p.Phe2351Tyr)
NM_001042492.3(NF1):c.7052T>C (p.Phe2351Ser)
NM_001042492.3(NF1):c.7062G>A (p.Lys2354=) rs184142864
NM_001042492.3(NF1):c.7063-3T>C rs1241158120
NM_001042492.3(NF1):c.7063-4_7063-2del rs1597851237
NM_001042492.3(NF1):c.706C>G (p.Gln236Glu) rs1597658664
NM_001042492.3(NF1):c.7070A>T (p.Glu2357Val) rs786203596
NM_001042492.3(NF1):c.7078T>G (p.Phe2360Val) rs2069866148
NM_001042492.3(NF1):c.7083G>A (p.Met2361Ile) rs1293010884
NM_001042492.3(NF1):c.7090C>T (p.Arg2364Trp) rs1567620403
NM_001042492.3(NF1):c.7097C>T (p.Pro2366Leu) rs1597851311
NM_001042492.3(NF1):c.7099C>G (p.Leu2367Val) rs1259241665
NM_001042492.3(NF1):c.7110C>G (p.His2370Gln)
NM_001042492.3(NF1):c.7139T>C (p.Leu2380Pro) rs1597851364
NM_001042492.3(NF1):c.713C>T (p.Pro238Leu) rs1567826152
NM_001042492.3(NF1):c.7146C>G (p.Phe2382Leu) rs2151565177
NM_001042492.3(NF1):c.7153A>G (p.Asn2385Asp) rs1597851405
NM_001042492.3(NF1):c.7159A>T (p.Asn2387Tyr) rs763556723
NM_001042492.3(NF1):c.7160A>G (p.Asn2387Ser)
NM_001042492.3(NF1):c.7172T>C (p.Val2391Ala) rs2069869918
NM_001042492.3(NF1):c.7174G>A (p.Gly2392Arg)
NM_001042492.3(NF1):c.7178A>C (p.His2393Pro)
NM_001042492.3(NF1):c.7179C>A (p.His2393Gln) rs2069870191
NM_001042492.3(NF1):c.7180C>A (p.Leu2394Ile) rs1555535452
NM_001042492.3(NF1):c.7188A>G (p.Lys2396=) rs202067626
NM_001042492.3(NF1):c.7189+4A>C rs756834212
NM_001042492.3(NF1):c.7190-5T>G rs748245325
NM_001042492.3(NF1):c.7195A>G (p.Arg2399Gly)
NM_001042492.3(NF1):c.7198C>T (p.His2400Tyr) rs1567623421
NM_001042492.3(NF1):c.71A>G (p.Lys24Arg)
NM_001042492.3(NF1):c.7201C>T (p.Pro2401Ser) rs1597858372
NM_001042492.3(NF1):c.7202C>T (p.Pro2401Leu)
NM_001042492.3(NF1):c.7214T>C (p.Ile2405Thr)
NM_001042492.3(NF1):c.7214T>G (p.Ile2405Ser)
NM_001042492.3(NF1):c.7217T>C (p.Val2406Ala) rs950181978
NM_001042492.3(NF1):c.721G>T (p.Asp241Tyr)
NM_001042492.3(NF1):c.7222A>G (p.Arg2408Gly)
NM_001042492.3(NF1):c.7223G>A (p.Arg2408Lys) rs1597858407
NM_001042492.3(NF1):c.7225A>G (p.Thr2409Ala) rs1555536021
NM_001042492.3(NF1):c.7226C>T (p.Thr2409Ile) rs1597858415
NM_001042492.3(NF1):c.7228G>A (p.Val2410Ile) rs1060500372
NM_001042492.3(NF1):c.723T>A (p.Asp241Glu)
NM_001042492.3(NF1):c.7240C>G (p.His2414Asp)
NM_001042492.3(NF1):c.7240C>T (p.His2414Tyr) rs2070075234
NM_001042492.3(NF1):c.7244C>A (p.Thr2415Lys)
NM_001042492.3(NF1):c.7246C>G (p.Leu2416Val) rs786201310
NM_001042492.3(NF1):c.724A>G (p.Met242Val) rs1555608762
NM_001042492.3(NF1):c.7256T>C (p.Leu2419Pro)
NM_001042492.3(NF1):c.725T>C (p.Met242Thr) rs1555608765
NM_001042492.3(NF1):c.7265A>G (p.Lys2422Arg) rs1597858501
NM_001042492.3(NF1):c.7266A>T (p.Lys2422Asn)
NM_001042492.3(NF1):c.7267C>T (p.His2423Tyr) rs761299521
NM_001042492.3(NF1):c.726G>A (p.Met242Ile)
NM_001042492.3(NF1):c.7272A>C (p.Arg2424Ser) rs139997141
NM_001042492.3(NF1):c.7274A>C (p.Asn2425Thr)
NM_001042492.3(NF1):c.7274A>G (p.Asn2425Ser) rs2070076752
NM_001042492.3(NF1):c.7276T>G (p.Cys2426Gly) rs767059035
NM_001042492.3(NF1):c.7279G>C (p.Asp2427His) rs1230353186
NM_001042492.3(NF1):c.7282A>C (p.Lys2428Gln)
NM_001042492.3(NF1):c.7283A>T (p.Lys2428Ile) rs2070077385
NM_001042492.3(NF1):c.7292T>G (p.Val2431Gly) rs2070077893
NM_001042492.3(NF1):c.7294A>C (p.Asn2432His)
NM_001042492.3(NF1):c.7295A>G (p.Asn2432Ser) rs2070077965
NM_001042492.3(NF1):c.7297A>G (p.Thr2433Ala) rs1597858568
NM_001042492.3(NF1):c.7303A>G (p.Ser2435Gly) rs1555536038
NM_001042492.3(NF1):c.7303A>T (p.Ser2435Cys) rs1555536038
NM_001042492.3(NF1):c.731-3C>G
NM_001042492.3(NF1):c.7315T>A (p.Leu2439Ile) rs1597858629
NM_001042492.3(NF1):c.7315T>G (p.Leu2439Val)
NM_001042492.3(NF1):c.7317A>C (p.Leu2439Phe) rs1597858633
NM_001042492.3(NF1):c.731A>G (p.Glu244Gly)
NM_001042492.3(NF1):c.7321+3A>G rs1597858650
NM_001042492.3(NF1):c.7321+4A>G rs1597858660
NM_001042492.3(NF1):c.7324T>A (p.Leu2442Ile)
NM_001042492.3(NF1):c.7346T>C (p.Val2449Ala)
NM_001042492.3(NF1):c.7355G>A (p.Arg2452His) rs1555536122
NM_001042492.3(NF1):c.7368A>C (p.Lys2456Asn) rs201287021
NM_001042492.3(NF1):c.7369C>T (p.His2457Tyr) rs768404575
NM_001042492.3(NF1):c.7373G>A (p.Arg2458Lys) rs1555536130
NM_001042492.3(NF1):c.7373G>T (p.Arg2458Ile)
NM_001042492.3(NF1):c.7381C>G (p.Leu2461Val) rs1199046022
NM_001042492.3(NF1):c.7382T>C (p.Leu2461Pro)
NM_001042492.3(NF1):c.7384C>A (p.Leu2462Ile)
NM_001042492.3(NF1):c.7387C>G (p.Leu2463Val) rs2070105859
NM_001042492.3(NF1):c.7387C>T (p.Leu2463Phe)
NM_001042492.3(NF1):c.7391C>T (p.Thr2464Ile) rs1597859696
NM_001042492.3(NF1):c.7400C>T (p.Ser2467Leu) rs1555536135
NM_001042492.3(NF1):c.7406A>G (p.Glu2469Gly) rs1281096294
NM_001042492.3(NF1):c.7406A>T (p.Glu2469Val) rs1281096294
NM_001042492.3(NF1):c.7417A>G (p.Met2473Val) rs1555536144
NM_001042492.3(NF1):c.7419G>A (p.Met2473Ile)
NM_001042492.3(NF1):c.7420G>T (p.Asp2474Tyr) rs1405212000
NM_001042492.3(NF1):c.7424C>A (p.Thr2475Lys)
NM_001042492.3(NF1):c.7424C>T (p.Thr2475Ile) rs770532573
NM_001042492.3(NF1):c.7426T>C (p.Tyr2476His) rs864622745
NM_001042492.3(NF1):c.7427A>T (p.Tyr2476Phe)
NM_001042492.3(NF1):c.7438C>T (p.His2480Tyr) rs1555536166
NM_001042492.3(NF1):c.7442G>T (p.Gly2481Val) rs786202540
NM_001042492.3(NF1):c.7444G>A (p.Asp2482Asn)
NM_001042492.3(NF1):c.7447C>T (p.Pro2483Ser) rs1291550449
NM_001042492.3(NF1):c.7448C>G (p.Pro2483Arg) rs2070108464
NM_001042492.3(NF1):c.744G>T (p.Lys248Asn)
NM_001042492.3(NF1):c.7454A>C (p.Tyr2485Ser)
NM_001042492.3(NF1):c.7456A>T (p.Arg2486Trp)
NM_001042492.3(NF1):c.7457+5G>A rs1555536171
NM_001042492.3(NF1):c.7457G>T (p.Arg2486Met)
NM_001042492.3(NF1):c.7458-3C>G rs1158267419
NM_001042492.3(NF1):c.7458-5T>G
NM_001042492.3(NF1):c.7458G>T (p.Arg2486Ser) rs2070166426
NM_001042492.3(NF1):c.746T>C (p.Leu249Pro) rs1567826623
NM_001042492.3(NF1):c.746T>G (p.Leu249Arg) rs1567826623
NM_001042492.3(NF1):c.7477C>T (p.Pro2493Ser) rs2070167112
NM_001042492.3(NF1):c.7478C>T (p.Pro2493Leu) rs2151576963
NM_001042492.3(NF1):c.7487C>T (p.Ser2496Phe) rs371773406
NM_001042492.3(NF1):c.7490C>T (p.Pro2497Leu) rs1555536347
NM_001042492.3(NF1):c.7494A>C (p.Lys2498Asn) rs2070167780
NM_001042492.3(NF1):c.7510C>A (p.Leu2504Ile) rs876658333
NM_001042492.3(NF1):c.7510C>T (p.Leu2504Phe) rs876658333
NM_001042492.3(NF1):c.7525C>A (p.Pro2509Thr) rs886052803
NM_001042492.3(NF1):c.7531G>A (p.Val2511Ile)
NM_001042492.3(NF1):c.753C>G (p.Asp251Glu) rs1567826636
NM_001042492.3(NF1):c.7543A>C (p.Ser2515Arg)
NM_001042492.3(NF1):c.7544G>T (p.Ser2515Ile) rs1597862174
NM_001042492.3(NF1):c.7550G>A (p.Arg2517Gln) rs755260088
NM_001042492.3(NF1):c.7564A>G (p.Met2522Val) rs1597862205
NM_001042492.3(NF1):c.7568G>A (p.Ser2523Asn)
NM_001042492.3(NF1):c.7568_7615+1494del
NM_001042492.3(NF1):c.757G>T (p.Val253Leu) rs786203607
NM_001042492.3(NF1):c.7597A>T (p.Asn2533Tyr) rs2151577390
NM_001042492.3(NF1):c.7598A>G (p.Asn2533Ser)
NM_001042492.3(NF1):c.7603A>G (p.Lys2535Glu)
NM_001042492.3(NF1):c.7616G>C (p.Gly2539Ala) rs1597865736
NM_001042492.3(NF1):c.7618A>G (p.Thr2540Ala) rs1555536632
NM_001042492.3(NF1):c.7619C>A (p.Thr2540Lys) rs1555536633
NM_001042492.3(NF1):c.7633G>T (p.Asp2545Tyr)
NM_001042492.3(NF1):c.7637A>C (p.His2546Pro)
NM_001042492.3(NF1):c.763G>A (p.Gly255Ser) rs773207833
NM_001042492.3(NF1):c.7644A>G (p.Ile2548Met) rs2070273405
NM_001042492.3(NF1):c.7648G>C (p.Asp2550His) rs2151581078
NM_001042492.3(NF1):c.7649A>C (p.Asp2550Ala)
NM_001042492.3(NF1):c.7651A>G (p.Thr2551Ala) rs2151581089
NM_001042492.3(NF1):c.7657G>C (p.Ala2553Pro) rs1555536644
NM_001042492.3(NF1):c.7657G>T (p.Ala2553Ser) rs1555536644
NM_001042492.3(NF1):c.7667G>T (p.Arg2556Met) rs1597865787
NM_001042492.3(NF1):c.7674A>T (p.Glu2558Asp)
NM_001042492.3(NF1):c.7684G>A (p.Gly2562Arg) rs1555536647
NM_001042492.3(NF1):c.7687A>G (p.Ile2563Val) rs1555536648
NM_001042492.3(NF1):c.7688T>A (p.Ile2563Asn)
NM_001042492.3(NF1):c.7693A>C (p.Thr2565Pro) rs786202548
NM_001042492.3(NF1):c.7693A>G (p.Thr2565Ala) rs786202548
NM_001042492.3(NF1):c.7696C>A (p.Pro2566Thr)
NM_001042492.3(NF1):c.76G>A (p.Gly26Arg) rs778973022
NM_001042492.3(NF1):c.770C>T (p.Ala257Val) rs2143785365
NM_001042492.3(NF1):c.7714G>C (p.Val2572Leu) rs1555536652
NM_001042492.3(NF1):c.7718C>G (p.Ala2573Gly)
NM_001042492.3(NF1):c.7724C>T (p.Thr2575Ile) rs1597865850
NM_001042492.3(NF1):c.7739-3C>T rs747382969
NM_001042492.3(NF1):c.7741A>T (p.Thr2581Ser) rs1597866308
NM_001042492.3(NF1):c.7744C>G (p.Gln2582Glu)
NM_001042492.3(NF1):c.7751T>G (p.Ile2584Ser) rs1597866331
NM_001042492.3(NF1):c.7768C>T (p.His2590Tyr) rs1555536690
NM_001042492.3(NF1):c.7769A>C (p.His2590Pro)
NM_001042492.3(NF1):c.776G>T (p.Ser259Ile)
NM_001042492.3(NF1):c.7770C>A (p.His2590Gln) rs1060503906
NM_001042492.3(NF1):c.7772C>G (p.Pro2591Arg)
NM_001042492.3(NF1):c.7774C>A (p.His2592Asn) rs749460130
NM_001042492.3(NF1):c.7774C>G (p.His2592Asp)
NM_001042492.3(NF1):c.7774C>T (p.His2592Tyr)
NM_001042492.3(NF1):c.7775A>T (p.His2592Leu) rs1597866394
NM_001042492.3(NF1):c.7775_7780del (p.His2592_Leu2593del)
NM_001042492.3(NF1):c.7776T>A (p.His2592Gln) rs1555536692
NM_001042492.3(NF1):c.7792G>T (p.Val2598Leu) rs2151582315
NM_001042492.3(NF1):c.779C>T (p.Thr260Ile) rs1567826665
NM_001042492.3(NF1):c.7804A>T (p.Asn2602Tyr) rs150657839
NM_001042492.3(NF1):c.7805A>G (p.Asn2602Ser) rs2151582358
NM_001042492.3(NF1):c.7806T>A (p.Asn2602Lys)
NM_001042492.3(NF1):c.7807G>A (p.Val2603Ile) rs766135206
NM_001042492.3(NF1):c.7808T>C (p.Val2603Ala) rs1597866454
NM_001042492.3(NF1):c.7816G>A (p.Asp2606Asn) rs2151582401
NM_001042492.3(NF1):c.7820A>G (p.Glu2607Gly) rs1597866483
NM_001042492.3(NF1):c.7822G>A (p.Glu2608Lys) rs1597866487
NM_001042492.3(NF1):c.7828C>G (p.Leu2610Val)
NM_001042492.3(NF1):c.7829T>C (p.Leu2610Pro)
NM_001042492.3(NF1):c.782A>G (p.Lys261Arg)
NM_001042492.3(NF1):c.7831A>G (p.Thr2611Ala) rs759424718
NM_001042492.3(NF1):c.7834G>A (p.Asp2612Asn)
NM_001042492.3(NF1):c.7837C>A (p.Pro2613Thr) rs138839077
NM_001042492.3(NF1):c.7838C>A (p.Pro2613Gln) rs750972729
NM_001042492.3(NF1):c.7842G>T (p.Lys2614Asn) rs1555536710
NM_001042492.3(NF1):c.7846C>G (p.Gln2616Glu) rs1555536713
NM_001042492.3(NF1):c.784C>T (p.Arg262Cys) rs754343223
NM_001042492.3(NF1):c.7855CTT[1] (p.Leu2620del)
NM_001042492.3(NF1):c.785G>A (p.Arg262His) rs1555608957
NM_001042492.3(NF1):c.785G>C (p.Arg262Pro) rs1555608957
NM_001042492.3(NF1):c.7864G>A (p.Val2622Ile) rs1471144465
NM_001042492.3(NF1):c.7864G>C (p.Val2622Leu) rs1471144465
NM_001042492.3(NF1):c.7867C>A (p.Leu2623Ile)
NM_001042492.3(NF1):c.7867C>G (p.Leu2623Val) rs1555536721
NM_001042492.3(NF1):c.7869+5G>C rs1555536725
NM_001042492.3(NF1):c.7870-3C>T rs1597866792
NM_001042492.3(NF1):c.7870-5G>T rs1169181885
NM_001042492.3(NF1):c.7870G>A (p.Ala2624Thr) rs1597866802
NM_001042492.3(NF1):c.7873A>G (p.Thr2625Ala) rs2070296220
NM_001042492.3(NF1):c.7874C>T (p.Thr2625Ile) rs2151583169
NM_001042492.3(NF1):c.7876C>A (p.Leu2626Met) rs1555536748
NM_001042492.3(NF1):c.7889C>T (p.Thr2630Ile) rs1283946778
NM_001042492.3(NF1):c.7896T>A (p.Asp2632Glu) rs1277560744
NM_001042492.3(NF1):c.7898A>T (p.Glu2633Val)
NM_001042492.3(NF1):c.7905T>G (p.Asp2635Glu)
NM_001042492.3(NF1):c.790G>A (p.Ala264Thr)
NM_001042492.3(NF1):c.7910G>T (p.Arg2637Leu) rs560262404
NM_001042492.3(NF1):c.7914T>G (p.Ile2638Met) rs1597866892
NM_001042492.3(NF1):c.7915C>A (p.Leu2639Ile) rs1057518362
NM_001042492.3(NF1):c.7915C>T (p.Leu2639Phe) rs1057518362
NM_001042492.3(NF1):c.7940G>A (p.Ser2647Asn)
NM_001042492.3(NF1):c.7943T>C (p.Val2648Ala)
NM_001042492.3(NF1):c.7948T>C (p.Phe2650Leu)
NM_001042492.3(NF1):c.7949T>G (p.Phe2650Cys) rs754443238
NM_001042492.3(NF1):c.794C>T (p.Ala265Val)
NM_001042492.3(NF1):c.7955A>G (p.Lys2652Arg) rs1597866986
NM_001042492.3(NF1):c.7962T>G (p.Phe2654Leu) rs1597867008
NM_001042492.3(NF1):c.7963C>G (p.Pro2655Ala) rs587781791
NM_001042492.3(NF1):c.7966G>A (p.Val2656Ile)
NM_001042492.3(NF1):c.7969G>A (p.Val2657Met)
NM_001042492.3(NF1):c.7970+4_7970+7del rs1064794279
NM_001042492.3(NF1):c.7971-4T>G rs1555536865
NM_001042492.3(NF1):c.7988C>G (p.Ser2663Cys) rs786202579
NM_001042492.3(NF1):c.7992G>T (p.Lys2664Asn)
NM_001042492.3(NF1):c.7996A>G (p.Asn2666Asp) rs1555536888
NM_001042492.3(NF1):c.7G>A (p.Ala3Thr) rs1598173770
NM_001042492.3(NF1):c.8000C>G (p.Thr2667Ser) rs786203669
NM_001042492.3(NF1):c.8000C>T (p.Thr2667Ile) rs786203669
NM_001042492.3(NF1):c.8002C>G (p.Leu2668Val) rs1060503905
NM_001042492.3(NF1):c.8005T>A (p.Leu2669Ile)
NM_001042492.3(NF1):c.8008T>C (p.Ser2670Pro) rs1597868102
NM_001042492.3(NF1):c.8009_8011del (p.Ser2670del)
NM_001042492.3(NF1):c.8011T>A (p.Leu2671Met) rs2070326229
NM_001042492.3(NF1):c.8023C>A (p.Pro2675Thr) rs1597868132
NM_001042492.3(NF1):c.8026A>G (p.Asn2676Asp) rs1555536902
NM_001042492.3(NF1):c.8032T>A (p.Leu2678Ile) rs1597868148
NM_001042492.3(NF1):c.803C>A (p.Pro268Gln) rs1441060549
NM_001042492.3(NF1):c.803C>T (p.Pro268Leu) rs1441060549
NM_001042492.3(NF1):c.8046T>A (p.His2682Gln) rs1184642602
NM_001042492.3(NF1):c.8057A>G (p.Gln2686Arg) rs890017184
NM_001042492.3(NF1):c.8058G>C (p.Gln2686His)
NM_001042492.3(NF1):c.8065G>A (p.Val2689Met) rs761214867
NM_001042492.3(NF1):c.8075A>T (p.Glu2692Val)
NM_001042492.3(NF1):c.8081C>A (p.Ser2694Tyr) rs1597868223
NM_001042492.3(NF1):c.8083C>T (p.Pro2695Ser) rs772707560
NM_001042492.3(NF1):c.8084C>T (p.Pro2695Leu) rs2070328290
NM_001042492.3(NF1):c.8087C>G (p.Pro2696Arg) rs1597868252
NM_001042492.3(NF1):c.8095C>G (p.Gln2699Glu) rs786203443
NM_001042492.3(NF1):c.809A>T (p.Gln270Leu)
NM_001042492.3(NF1):c.8104T>C (p.Tyr2702His)
NM_001042492.3(NF1):c.8107C>A (p.Leu2703Met) rs955074155
NM_001042492.3(NF1):c.8113+93A>T
NM_001042492.3(NF1):c.8113A>G (p.Ser2705Gly) rs1597868305
NM_001042492.3(NF1):c.8114G>A (p.Ser2705Asn)
NM_001042492.3(NF1):c.8129G>A (p.Gly2710Asp) rs1597868740
NM_001042492.3(NF1):c.8129G>T (p.Gly2710Val) rs1597868740
NM_001042492.3(NF1):c.812T>C (p.Ile271Thr) rs1597659948
NM_001042492.3(NF1):c.8137C>T (p.Arg2713Trp) rs757391670
NM_001042492.3(NF1):c.8138G>A (p.Arg2713Gln) rs1170836879
NM_001042492.3(NF1):c.8144C>T (p.Ala2715Val) rs1597868802
NM_001042492.3(NF1):c.8156C>T (p.Ser2719Leu)
NM_001042492.3(NF1):c.8160+4A>C rs1555537033
NM_001042492.3(NF1):c.8160+4A>G rs1555537033
NM_001042492.3(NF1):c.8160+5G>A
NM_001042492.3(NF1):c.8160G>C (p.Lys2720Asn) rs1555537030
NM_001042492.3(NF1):c.8161-4A>G rs2151587589
NM_001042492.3(NF1):c.8163A>C (p.Gln2721His)
NM_001042492.3(NF1):c.8206G>A (p.Asp2736Asn) rs1597870148
NM_001042492.3(NF1):c.8209G>A (p.Ala2737Thr) rs2151587791
NM_001042492.3(NF1):c.8210C>G (p.Ala2737Gly)
NM_001042492.3(NF1):c.8214G>C (p.Leu2738Phe) rs786201597
NM_001042492.3(NF1):c.8222C>A (p.Thr2741Lys) rs144178015
NM_001042492.3(NF1):c.8222C>T (p.Thr2741Met) rs144178015
NM_001042492.3(NF1):c.8227C>A (p.Leu2743Met)
NM_001042492.3(NF1):c.8227C>G (p.Leu2743Val) rs1597870180
NM_001042492.3(NF1):c.8230C>T (p.Pro2744Ser)
NM_001042492.3(NF1):c.823A>G (p.Ile275Val) rs786202464
NM_001042492.3(NF1):c.823A>T (p.Ile275Phe) rs786202464
NM_001042492.3(NF1):c.8241T>A (p.Asp2747Glu)
NM_001042492.3(NF1):c.8243A>C (p.Glu2748Ala)
NM_001042492.3(NF1):c.8249C>T (p.Thr2750Ile)
NM_001042492.3(NF1):c.8252G>A (p.Ser2751Asn) rs2151587925
NM_001042492.3(NF1):c.825C>T (p.Ile275=) rs1597659985
NM_001042492.3(NF1):c.8261C>T (p.Ser2754Phe) rs2151587952
NM_001042492.3(NF1):c.8263C>G (p.Leu2755Val)
NM_001042492.3(NF1):c.8267T>A (p.Leu2756Gln) rs1555537241
NM_001042492.3(NF1):c.8269A>G (p.Thr2757Ala)
NM_001042492.3(NF1):c.8270C>T (p.Thr2757Ile) rs1555537244
NM_001042492.3(NF1):c.8285A>C (p.Tyr2762Ser) rs1597870238
NM_001042492.3(NF1):c.8294C>T (p.Ala2765Val)
NM_001042492.3(NF1):c.8318C>T (p.Thr2773Ile) rs1597870290
NM_001042492.3(NF1):c.8323A>T (p.Asn2775Tyr) rs1555537252
NM_001042492.3(NF1):c.8324A>T (p.Asn2775Ile)
NM_001042492.3(NF1):c.8327T>G (p.Leu2776Arg)
NM_001042492.3(NF1):c.8333T>G (p.Leu2778Arg) rs1555537253
NM_001042492.3(NF1):c.8362T>G (p.Ser2788Ala) rs374004608
NM_001042492.3(NF1):c.8363C>T (p.Ser2788Phe) rs1567628713
NM_001042492.3(NF1):c.8369A>T (p.His2790Leu)
NM_001042492.3(NF1):c.8372C>T (p.Ser2791Phe) rs1597870350
NM_001042492.3(NF1):c.8377+4A>C
NM_001042492.3(NF1):c.8377+5G>A
NM_001042492.3(NF1):c.8378-3C>T
NM_001042492.3(NF1):c.8389G>A (p.Glu2797Lys)
NM_001042492.3(NF1):c.8389_8391del (p.Glu2797del) rs1555538511
NM_001042492.3(NF1):c.8391dup (p.Asn2798fs) rs1555538513
NM_001042492.3(NF1):c.8393A>G (p.Asn2798Ser) rs1555538515
NM_001042492.3(NF1):c.8396T>C (p.Val2799Ala) rs2070695501
NM_001042492.3(NF1):c.8398G>C (p.Glu2800Gln) rs1597882991
NM_001042492.3(NF1):c.8407C>A (p.Pro2803Thr) rs779180729
NM_001042492.3(NF1):c.8407C>G (p.Pro2803Ala) rs779180729
NM_001042492.3(NF1):c.8407C>T (p.Pro2803Ser) rs779180729
NM_001042492.3(NF1):c.8420A>G (p.His2807Arg) rs2070695954
NM_001042492.3(NF1):c.8421C>A (p.His2807Gln) rs1326795798
NM_001042492.3(NF1):c.8423G>A (p.Cys2808Tyr)
NM_001042492.3(NF1):c.8423G>T (p.Cys2808Phe)
NM_001042492.3(NF1):c.8423_8424delinsTC (p.Cys2808Phe)
NM_001042492.3(NF1):c.8428A>G (p.Ser2810Gly) rs1597883071
NM_001042492.3(NF1):c.8434C>T (p.Arg2812Ter)
NM_001042492.3(NF1):c.8437A>T (p.Thr2813Ser) rs1597883075
NM_001042492.3(NF1):c.8444A>C (p.His2815Pro)
NM_001042492.3(NF1):c.8445C>A (p.His2815Gln) rs1597883082
NM_001042492.3(NF1):c.8450C>T (p.Ser2817Phe) rs1048863798
NM_001042492.3(NF1):c.8452G>A (p.Ala2818Thr) rs771006452
NM_001042492.3(NF1):c.8452G>T (p.Ala2818Ser) rs771006452
NM_001042492.3(NF1):c.8469G>T (p.Lys2823Asn) rs1203883572
NM_001042492.3(NF1):c.8472A>C (p.Gln2824His)
NM_001042492.3(NF1):c.8482G>A (p.Gly2828Ser) rs2070697456
NM_001042492.3(NF1):c.848A>G (p.Asp283Gly) rs878853921
NM_001042492.3(NF1):c.8490C>G (p.Phe2830Leu) rs760550772
NM_001042492.3(NF1):c.8499T>G (p.Asn2833Lys) rs142636150
NM_001042492.3(NF1):c.8501G>C (p.Ser2834Thr)
NM_001042492.3(NF1):c.8503A>C (p.Ile2835Leu)
NM_001042492.3(NF1):c.8507AGA[1] (p.Lys2837del) rs1555538565
NM_001042492.3(NF1):c.8512A>T (p.Ile2838Phe)
NM_001042492.3(NF1):c.8515G>C (p.Val2839Leu) rs368149035
NM_001042492.3(NF1):c.8515G>T (p.Val2839Leu) rs368149035
NM_001042492.3(NF1):c.852A>G (p.Ile284Met) rs1567826762
NM_001042492.3(NF1):c.861C>A (p.Asp287Glu)
NM_001042492.3(NF1):c.866T>C (p.Val289Ala) rs749251299
NM_001042492.3(NF1):c.868G>A (p.Asp290Asn) rs1597660081
NM_001042492.3(NF1):c.875A>G (p.Asn292Ser)
NM_001042492.3(NF1):c.880A>G (p.Met294Val) rs1597660112
NM_001042492.3(NF1):c.885T>A (p.Asn295Lys) rs864622300
NM_001042492.3(NF1):c.888+2T>C rs2066160116
NM_001042492.3(NF1):c.888+744A>G rs1597660915
NM_001042492.3(NF1):c.889-5del rs1555610837
NM_001042492.3(NF1):c.88A>C (p.Thr30Pro) rs1555604881
NM_001042492.3(NF1):c.894A>C (p.Leu298Phe)
NM_001042492.3(NF1):c.8C>A (p.Ala3Glu)
NM_001042492.3(NF1):c.8C>T (p.Ala3Val) rs1911550821
NM_001042492.3(NF1):c.901G>A (p.Asp301Asn) rs2066505718
NM_001042492.3(NF1):c.903C>G (p.Asp301Glu)
NM_001042492.3(NF1):c.907C>G (p.Leu303Val) rs1555610847
NM_001042492.3(NF1):c.917C>T (p.Ala306Val) rs1597680783
NM_001042492.3(NF1):c.919C>T (p.Leu307Phe)
NM_001042492.3(NF1):c.922_923delinsTT (p.Ala308Phe) rs1597680797
NM_001042492.3(NF1):c.925G>A (p.Gly309Ser)
NM_001042492.3(NF1):c.925_926delinsAT (p.Gly309Ile)
NM_001042492.3(NF1):c.928C>T (p.His310Tyr) rs1597680837
NM_001042492.3(NF1):c.929A>G (p.His310Arg)
NM_001042492.3(NF1):c.92A>C (p.His31Pro)
NM_001042492.3(NF1):c.92A>G (p.His31Arg) rs199474725
NM_001042492.3(NF1):c.930T>A (p.His310Gln) rs1555610865
NM_001042492.3(NF1):c.935G>A (p.Gly312Glu) rs1555610868
NM_001042492.3(NF1):c.935G>T (p.Gly312Val) rs1555610868
NM_001042492.3(NF1):c.936A>G (p.Gly312=)
NM_001042492.3(NF1):c.93T>A (p.His31Gln) rs2143625630
NM_001042492.3(NF1):c.940A>G (p.Arg314Gly)
NM_001042492.3(NF1):c.945G>C (p.Gln315His)
NM_001042492.3(NF1):c.94A>G (p.Thr32Ala)
NM_001042492.3(NF1):c.950C>T (p.Thr317Ile)
NM_001042492.3(NF1):c.962C>T (p.Ala321Val) rs2143873023
NM_001042492.3(NF1):c.971G>T (p.Cys324Phe)
NM_001042492.3(NF1):c.976A>G (p.Lys326Glu) rs1597680956
NM_001042492.3(NF1):c.980T>A (p.Leu327Gln)
NM_001042492.3(NF1):c.986A>G (p.Lys329Arg) rs1555610894
NM_001042492.3(NF1):c.98A>G (p.Lys33Arg) rs1555604887
NM_001042492.3(NF1):c.992G>A (p.Ser331Asn) rs1555610899
NM_006767.4(LZTR1):c.-3G>A
NM_006767.4(LZTR1):c.-5C>T
NM_006767.4(LZTR1):c.1010T>G (p.Val337Gly)
NM_006767.4(LZTR1):c.1021G>A (p.Ala341Thr)
NM_006767.4(LZTR1):c.1025G>A (p.Cys342Tyr)
NM_006767.4(LZTR1):c.1027G>A (p.Ala343Thr)
NM_006767.4(LZTR1):c.1031C>A (p.Ser344Tyr)
NM_006767.4(LZTR1):c.1031C>T (p.Ser344Phe)
NM_006767.4(LZTR1):c.1033G>A (p.Glu345Lys)
NM_006767.4(LZTR1):c.1037A>G (p.Glu346Gly)
NM_006767.4(LZTR1):c.1039G>T (p.Val347Leu)
NM_006767.4(LZTR1):c.1042C>T (p.Pro348Ser)
NM_006767.4(LZTR1):c.1046C>T (p.Thr349Ile)
NM_006767.4(LZTR1):c.1048C>A (p.Leu350Met)
NM_006767.4(LZTR1):c.1048C>G (p.Leu350Val)
NM_006767.4(LZTR1):c.1055A>G (p.Tyr352Cys)
NM_006767.4(LZTR1):c.1062G>C (p.Glu354Asp)
NM_006767.4(LZTR1):c.1063C>T (p.Arg355Trp)
NM_006767.4(LZTR1):c.1066G>T (p.Val356Phe)
NM_006767.4(LZTR1):c.1090G>A (p.Val364Met)
NM_006767.4(LZTR1):c.1097G>T (p.Gly366Val)
NM_006767.4(LZTR1):c.1099C>G (p.Leu367Val)
NM_006767.4(LZTR1):c.1109_1110delinsTT (p.Gly370Val)
NM_006767.4(LZTR1):c.1112C>T (p.Thr371Ile)
NM_006767.4(LZTR1):c.1115C>T (p.Thr372Ile)
NM_006767.4(LZTR1):c.1129C>A (p.Pro377Thr) rs1223628431
NM_006767.4(LZTR1):c.112G>A (p.Val38Ile)
NM_006767.4(LZTR1):c.1133C>T (p.Thr378Ile)
NM_006767.4(LZTR1):c.1143_1149+8del
NM_006767.4(LZTR1):c.1145C>T (p.Ser382Leu) rs762889850
NM_006767.4(LZTR1):c.1150-5C>T rs992627026
NM_006767.4(LZTR1):c.1164G>T (p.Arg388Ser)
NM_006767.4(LZTR1):c.1165C>T (p.Leu389Phe)
NM_006767.4(LZTR1):c.1166T>C (p.Leu389Pro)
NM_006767.4(LZTR1):c.1173C>A (p.His391Gln)
NM_006767.4(LZTR1):c.1174G>A (p.Ala392Thr)
NM_006767.4(LZTR1):c.1180G>C (p.Ala394Pro)
NM_006767.4(LZTR1):c.1190C>T (p.Ser397Leu) rs1241079044
NM_006767.4(LZTR1):c.1194C>A (p.Asp398Glu)
NM_006767.4(LZTR1):c.1199T>C (p.Met400Thr)
NM_006767.4(LZTR1):c.11C>A (p.Pro4Gln)
NM_006767.4(LZTR1):c.1200G>A (p.Met400Ile)
NM_006767.4(LZTR1):c.1200G>C (p.Met400Ile)
NM_006767.4(LZTR1):c.1201T>G (p.Tyr401Asp)
NM_006767.4(LZTR1):c.1210G>C (p.Gly404Arg)
NM_006767.4(LZTR1):c.1214G>A (p.Gly405Asp)
NM_006767.4(LZTR1):c.1217C>A (p.Thr406Lys)
NM_006767.4(LZTR1):c.1217C>T (p.Thr406Met)
NM_006767.4(LZTR1):c.1219G>A (p.Val407Met)
NM_006767.4(LZTR1):c.1220T>C (p.Val407Ala)
NM_006767.4(LZTR1):c.1227C>A (p.Asn409Lys)
NM_006767.4(LZTR1):c.1229A>G (p.Asn410Ser)
NM_006767.4(LZTR1):c.1235G>A (p.Arg412His) rs935736801
NM_006767.4(LZTR1):c.1237A>G (p.Ser413Gly)
NM_006767.4(LZTR1):c.1247T>G (p.Met416Arg)
NM_006767.4(LZTR1):c.1250A>G (p.Tyr417Cys)
NM_006767.4(LZTR1):c.1250A>T (p.Tyr417Phe)
NM_006767.4(LZTR1):c.1253G>C (p.Arg418Thr)
NM_006767.4(LZTR1):c.1254G>T (p.Arg418Ser) rs746064505
NM_006767.4(LZTR1):c.1259A>G (p.Gln420Arg)
NM_006767.4(LZTR1):c.1260+2T>C
NM_006767.4(LZTR1):c.1260+2T>G
NM_006767.4(LZTR1):c.1260+4T>A
NM_006767.4(LZTR1):c.1260+5G>A
NM_006767.4(LZTR1):c.1260G>A (p.Gln420=)
NM_006767.4(LZTR1):c.1261-2A>T
NM_006767.4(LZTR1):c.1261-3C>T rs770882185
NM_006767.4(LZTR1):c.1265C>T (p.Ser422Phe)
NM_006767.4(LZTR1):c.1265_1267del (p.Ser422del)
NM_006767.4(LZTR1):c.1274C>G (p.Pro425Arg)
NM_006767.4(LZTR1):c.1274C>T (p.Pro425Leu)
NM_006767.4(LZTR1):c.1279T>C (p.Cys427Arg)
NM_006767.4(LZTR1):c.1291G>A (p.Glu431Lys)
NM_006767.4(LZTR1):c.1297T>C (p.Tyr433His)
NM_006767.4(LZTR1):c.1300G>A (p.Gly434Arg)
NM_006767.4(LZTR1):c.1307T>G (p.Leu436Arg)
NM_006767.4(LZTR1):c.1310G>C (p.Trp437Ser)
NM_006767.4(LZTR1):c.1319G>A (p.Arg440His)
NM_006767.4(LZTR1):c.1322A>G (p.Gln441Arg) rs1660437007
NM_006767.4(LZTR1):c.1328G>A (p.Cys443Tyr)
NM_006767.4(LZTR1):c.1330G>T (p.Asp444Tyr)
NM_006767.4(LZTR1):c.1332C>G (p.Asp444Glu)
NM_006767.4(LZTR1):c.1334_1336del (p.Val445del)
NM_006767.4(LZTR1):c.1336G>A (p.Glu446Lys)
NM_006767.4(LZTR1):c.1336G>C (p.Glu446Gln)
NM_006767.4(LZTR1):c.1342G>A (p.Val448Met)
NM_006767.4(LZTR1):c.1348G>A (p.Gly450Ser)
NM_006767.4(LZTR1):c.1348G>C (p.Gly450Arg)
NM_006767.4(LZTR1):c.1353+1G>A
NM_006767.4(LZTR1):c.1353+1G>T
NM_006767.4(LZTR1):c.1353+4G>A
NM_006767.4(LZTR1):c.1353G>A (p.Glu451=)
NM_006767.4(LZTR1):c.1354-2A>G
NM_006767.4(LZTR1):c.1354-5T>C
NM_006767.4(LZTR1):c.1357G>A (p.Glu453Lys)
NM_006767.4(LZTR1):c.1357GAG[1] (p.Glu454del)
NM_006767.4(LZTR1):c.135C>A (p.Phe45Leu)
NM_006767.4(LZTR1):c.135C>G (p.Phe45Leu)
NM_006767.4(LZTR1):c.1364G>T (p.Cys455Phe)
NM_006767.4(LZTR1):c.1366G>A (p.Val456Met) rs565109294
NM_006767.4(LZTR1):c.136G>A (p.Gly46Arg) rs1273423585
NM_006767.4(LZTR1):c.1370A>T (p.Gln457Leu)
NM_006767.4(LZTR1):c.1372G>A (p.Gly458Ser)
NM_006767.4(LZTR1):c.1373G>A (p.Gly458Asp) rs1303528589
NM_006767.4(LZTR1):c.1373G>C (p.Gly458Ala)
NM_006767.4(LZTR1):c.1373G>T (p.Gly458Val)
NM_006767.4(LZTR1):c.1375C>G (p.His459Asp)
NM_006767.4(LZTR1):c.1378G>A (p.Val460Ile)
NM_006767.4(LZTR1):c.1379T>C (p.Val460Ala) rs982153864
NM_006767.4(LZTR1):c.1379T>G (p.Val460Gly)
NM_006767.4(LZTR1):c.1388T>A (p.Val463Asp)
NM_006767.4(LZTR1):c.1393G>A (p.Ala465Thr) rs2147967038
NM_006767.4(LZTR1):c.1393G>C (p.Ala465Pro)
NM_006767.4(LZTR1):c.1397G>C (p.Arg466Pro)
NM_006767.4(LZTR1):c.1397G>T (p.Arg466Leu) rs587777180
NM_006767.4(LZTR1):c.139C>A (p.Pro47Thr)
NM_006767.4(LZTR1):c.139C>T (p.Pro47Ser)
NM_006767.4(LZTR1):c.1400_1426del (p.Ser467_Gln476delinsLys)
NM_006767.4(LZTR1):c.1401C>A (p.Ser467Arg)
NM_006767.4(LZTR1):c.140C>T (p.Pro47Leu)
NM_006767.4(LZTR1):c.1412G>C (p.Arg471Pro) rs139031749
NM_006767.4(LZTR1):c.1421T>A (p.Ile474Asn)
NM_006767.4(LZTR1):c.1427A>G (p.Gln476Arg)
NM_006767.4(LZTR1):c.1429G>C (p.Ala477Pro)
NM_006767.4(LZTR1):c.1430C>G (p.Ala477Gly)
NM_006767.4(LZTR1):c.1430C>T (p.Ala477Val) rs762005490
NM_006767.4(LZTR1):c.1435G>A (p.Glu479Lys)
NM_006767.4(LZTR1):c.1439G>A (p.Arg480Lys)
NM_006767.4(LZTR1):c.1444G>A (p.Ala482Thr)
NM_006767.4(LZTR1):c.1448A>C (p.Gln483Pro)
NM_006767.4(LZTR1):c.144C>G (p.Phe48Leu)
NM_006767.4(LZTR1):c.1450-1G>A
NM_006767.4(LZTR1):c.1450-3C>A
NM_006767.4(LZTR1):c.1450-3C>T
NM_006767.4(LZTR1):c.1450-5C>G
NM_006767.4(LZTR1):c.1450-5C>T rs760733168
NM_006767.4(LZTR1):c.1451A>C (p.Lys484Thr)
NM_006767.4(LZTR1):c.1463A>C (p.Glu488Ala)
NM_006767.4(LZTR1):c.1466C>G (p.Ala489Gly)
NM_006767.4(LZTR1):c.1466C>T (p.Ala489Val)
NM_006767.4(LZTR1):c.146A>C (p.Glu49Ala)
NM_006767.4(LZTR1):c.1474G>A (p.Val492Ile)
NM_006767.4(LZTR1):c.1477C>T (p.Pro493Ser)
NM_006767.4(LZTR1):c.1478C>A (p.Pro493His) rs2147967251
NM_006767.4(LZTR1):c.1480A>G (p.Arg494Gly) rs2147967253
NM_006767.4(LZTR1):c.1485G>T (p.Glu495Asp)
NM_006767.4(LZTR1):c.1486G>C (p.Ala496Pro)
NM_006767.4(LZTR1):c.1486G>T (p.Ala496Ser)
NM_006767.4(LZTR1):c.1486_1487delinsTA (p.Ala496Tyr) rs2147967267
NM_006767.4(LZTR1):c.1487C>A (p.Ala496Asp)
NM_006767.4(LZTR1):c.1487C>T (p.Ala496Val)
NM_006767.4(LZTR1):c.1490C>T (p.Pro497Leu)
NM_006767.4(LZTR1):c.1492G>T (p.Gly498Cys)
NM_006767.4(LZTR1):c.1493G>C (p.Gly498Ala)
NM_006767.4(LZTR1):c.1495G>A (p.Val499Met)
NM_006767.4(LZTR1):c.1495G>T (p.Val499Leu)
NM_006767.4(LZTR1):c.1496T>C (p.Val499Ala)
NM_006767.4(LZTR1):c.14G>A (p.Gly5Asp)
NM_006767.4(LZTR1):c.1504G>T (p.Gly502Cys)
NM_006767.4(LZTR1):c.1507G>A (p.Gly503Arg)
NM_006767.4(LZTR1):c.1513C>T (p.Arg505Trp) rs770974858
NM_006767.4(LZTR1):c.1516C>T (p.Pro506Ser)
NM_006767.4(LZTR1):c.1526T>G (p.Leu509Arg)
NM_006767.4(LZTR1):c.1532T>C (p.Val511Ala)
NM_006767.4(LZTR1):c.1534G>C (p.Ala512Pro)
NM_006767.4(LZTR1):c.1537A>T (p.Ile513Phe)
NM_006767.4(LZTR1):c.1538T>C (p.Ile513Thr)
NM_006767.4(LZTR1):c.1544A>T (p.Glu515Val)
NM_006767.4(LZTR1):c.154C>T (p.His52Tyr)
NM_006767.4(LZTR1):c.1556G>C (p.Arg519Pro)
NM_006767.4(LZTR1):c.1561T>C (p.Phe521Leu)
NM_006767.4(LZTR1):c.1562T>G (p.Phe521Cys)
NM_006767.4(LZTR1):c.1567G>A (p.Val523Met)
NM_006767.4(LZTR1):c.1567G>T (p.Val523Leu)
NM_006767.4(LZTR1):c.1569G>A (p.Val523=)
NM_006767.4(LZTR1):c.1571T>C (p.Leu524Pro)
NM_006767.4(LZTR1):c.1573A>G (p.Met525Val)
NM_006767.4(LZTR1):c.1574T>C (p.Met525Thr)
NM_006767.4(LZTR1):c.1577A>C (p.Gln526Pro)
NM_006767.4(LZTR1):c.1579T>C (p.Phe527Leu)
NM_006767.4(LZTR1):c.1580T>C (p.Phe527Ser)
NM_006767.4(LZTR1):c.1581C>G (p.Phe527Leu) rs2147967432
NM_006767.4(LZTR1):c.1582C>G (p.Leu528Val) rs1331354829
NM_006767.4(LZTR1):c.1582C>T (p.Leu528Phe)
NM_006767.4(LZTR1):c.1583T>G (p.Leu528Arg)
NM_006767.4(LZTR1):c.1585T>A (p.Tyr529Asn)
NM_006767.4(LZTR1):c.1585T>G (p.Tyr529Asp)
NM_006767.4(LZTR1):c.1586A>G (p.Tyr529Cys)
NM_006767.4(LZTR1):c.1587C>T (p.Tyr529=) rs371015800
NM_006767.4(LZTR1):c.1589C>T (p.Thr530Ile)
NM_006767.4(LZTR1):c.1591G>T (p.Asp531Tyr)
NM_006767.4(LZTR1):c.1598T>A (p.Ile533Asn)
NM_006767.4(LZTR1):c.1603T>C (p.Tyr535His)
NM_006767.4(LZTR1):c.160T>C (p.Trp54Arg)
NM_006767.4(LZTR1):c.1616-4G>C rs368206951
NM_006767.4(LZTR1):c.1616-4del
NM_006767.4(LZTR1):c.1616G>A (p.Gly539Asp) rs746896119
NM_006767.4(LZTR1):c.1620T>A (p.His540Gln) rs141610191
NM_006767.4(LZTR1):c.1621G>T (p.Val541Leu) rs1009167232
NM_006767.4(LZTR1):c.1622T>G (p.Val541Gly) rs2147967847
NM_006767.4(LZTR1):c.1625A>G (p.Glu542Gly)