ClinVar Miner

List of variants in gene NF1 reported as uncertain significance

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5674
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.*871del rs759306393 0.01272
NM_001042492.3(NF1):c.3198-3C>T rs777759972 0.00502
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu) rs112306990 0.00398
NM_001042492.3(NF1):c.3498C>T (p.Gly1166=) rs2066733 0.00392
NM_001042492.3(NF1):c.3198-4T>C rs587782218 0.00387
NM_001042492.3(NF1):c.1994C>T (p.Ser665Phe) rs145891889 0.00220
NM_001042492.3(NF1):c.5035A>G (p.Ile1679Val) rs147327414 0.00195
NM_001042492.3(NF1):c.*126G>A rs184715593 0.00185
NM_001042492.3(NF1):c.7584A>G (p.Gln2528=) rs55865524 0.00127
NM_001042492.3(NF1):c.*1899A>G rs547663480 0.00100
NM_001042492.3(NF1):c.3867C>T (p.Phe1289=) rs138186428 0.00089
NM_001042492.3(NF1):c.3270A>C (p.Gly1090=) rs150015024 0.00079
NM_001042492.3(NF1):c.*3189G>A rs548353495 0.00071
NM_001042492.3(NF1):c.*875T>A rs886052806 0.00070
NM_001042492.3(NF1):c.7595C>T (p.Ala2532Val) rs148154172 0.00066
NM_001042492.3(NF1):c.2033C>T (p.Pro678Leu) rs17881753 0.00058
NM_001042492.3(NF1):c.6379A>G (p.Ile2127Val) rs200022550 0.00053
NM_001042492.3(NF1):c.731-6A>C rs369366499 0.00037
NM_001042492.3(NF1):c.*3091A>C rs570154156 0.00032
NM_001042492.3(NF1):c.8041A>G (p.Ile2681Val) rs146315101 0.00031
NM_001042492.3(NF1):c.6922-16A>G rs202158964 0.00030
NM_001042492.3(NF1):c.1976G>A (p.Arg659Gln) rs151138158 0.00029
NM_001042492.3(NF1):c.5906A>T (p.Gln1969Leu) rs143502927 0.00029
NM_001042492.3(NF1):c.7998C>T (p.Asn2666=) rs747307832 0.00024
NM_001042492.3(NF1):c.*2247T>C rs745818146 0.00021
NM_001042492.3(NF1):c.1062+113A>G rs868553650 0.00021
NM_001042492.3(NF1):c.5269-9A>G rs544515671 0.00021
NM_001042492.3(NF1):c.*1208C>T rs556230487 0.00019
NM_001042492.3(NF1):c.1032A>G (p.Leu344=) rs199832006 0.00019
NM_001042492.3(NF1):c.4749A>G (p.Glu1583=) rs144091165 0.00019
NM_001042492.3(NF1):c.*3266G>A rs548117626 0.00018
NM_001042492.3(NF1):c.6172A>G (p.Ile2058Val) rs201712827 0.00017
NM_001042492.3(NF1):c.107C>G (p.Thr36Ser) rs199966218 0.00015
NM_001042492.3(NF1):c.3436G>A (p.Val1146Ile) rs201047812 0.00015
NM_001042492.3(NF1):c.6929C>T (p.Pro2310Leu) rs148736217 0.00015
NM_001042492.3(NF1):c.2133C>T (p.Arg711=) rs148085908 0.00014
NM_001042492.3(NF1):c.*3227A>G rs1050612282 0.00013
NM_001042492.3(NF1):c.2032C>G (p.Pro678Ala) rs758691069 0.00013
NM_001042492.3(NF1):c.61-13del rs1215659707 0.00013
NM_001042492.3(NF1):c.7026G>A (p.Leu2342=) rs371581213 0.00013
NM_001042492.3(NF1):c.2191C>T (p.Leu731Phe) rs185204667 0.00012
NM_001042492.3(NF1):c.5049C>T (p.Asn1683=) rs140994965 0.00012
NM_001042492.3(NF1):c.3621A>G (p.Arg1207=) rs141390152 0.00011
NM_001042492.3(NF1):c.7354C>T (p.Arg2452Cys) rs377662483 0.00011
NM_001042492.3(NF1):c.2178G>C (p.Val726=) rs369590240 0.00010
NM_001042492.3(NF1):c.*160A>T rs17882413 0.00009
NM_001042492.3(NF1):c.*3248G>A rs527971565 0.00009
NM_001042492.3(NF1):c.4724+11A>G rs368649260 0.00009
NM_001042492.3(NF1):c.4836-3T>C rs372460369 0.00009
NM_001042492.3(NF1):c.5513C>G (p.Ser1838Cys) rs368654378 0.00009
NM_001042492.3(NF1):c.5757G>A (p.Glu1919=) rs141077224 0.00009
NM_001042492.3(NF1):c.8105A>T (p.Tyr2702Phe) rs201824349 0.00008
NM_001042492.3(NF1):c.8377+1659C>T rs572658615 0.00008
NM_001042492.3(NF1):c.1392+5G>T rs199999754 0.00007
NM_001042492.3(NF1):c.1392+6A>T rs200798969 0.00007
NM_001042492.3(NF1):c.1528-10T>C rs376174484 0.00007
NM_001042492.3(NF1):c.4943C>T (p.Thr1648Ile) rs376655102 0.00007
NM_001042492.3(NF1):c.*101T>C rs962788938 0.00006
NM_001042492.3(NF1):c.*1A>C rs876658388 0.00006
NM_001042492.3(NF1):c.3217A>G (p.Met1073Val) rs199474740 0.00006
NM_001042492.3(NF1):c.3686A>G (p.Asn1229Ser) rs140523180 0.00006
NM_001042492.3(NF1):c.4526G>A (p.Arg1509His) rs546073780 0.00006
NM_001042492.3(NF1):c.5961G>A (p.Gln1987=) rs757536610 0.00006
NM_001042492.3(NF1):c.7006G>A (p.Ala2336Thr) rs587781428 0.00006
NM_001042492.3(NF1):c.7520C>T (p.Thr2507Ile) rs149055633 0.00006
NM_001042492.3(NF1):c.7870-8C>A rs372441422 0.00006
NM_001042492.3(NF1):c.8395G>A (p.Val2799Ile) rs377393842 0.00006
NM_001042492.3(NF1):c.1166A>G (p.His389Arg) rs149739570 0.00005
NM_001042492.3(NF1):c.1588G>A (p.Val530Ile) rs145191978 0.00005
NM_001042492.3(NF1):c.1894T>A (p.Cys632Ser) rs370789267 0.00005
NM_001042492.3(NF1):c.2188A>T (p.Asn730Tyr) rs758893131 0.00005
NM_001042492.3(NF1):c.4207G>A (p.Gly1403Ser) rs138227618 0.00005
NM_001042492.3(NF1):c.61-16301G>A rs1251741983 0.00005
NM_001042492.3(NF1):c.*1202A>C rs886052807 0.00004
NM_001042492.3(NF1):c.*2071G>A rs886052811 0.00004
NM_001042492.3(NF1):c.181A>G (p.Ile61Val) rs754295034 0.00004
NM_001042492.3(NF1):c.231A>T (p.Lys77Asn) rs373563053 0.00004
NM_001042492.3(NF1):c.2991-4A>G rs754414489 0.00004
NM_001042492.3(NF1):c.3358G>C (p.Val1120Leu) rs200594167 0.00004
NM_001042492.3(NF1):c.3371G>A (p.Ser1124Asn) rs374472758 0.00004
NM_001042492.3(NF1):c.3484A>G (p.Met1162Val) rs773968270 0.00004
NM_001042492.3(NF1):c.3690G>T (p.Val1230=) rs183296277 0.00004
NM_001042492.3(NF1):c.3883A>G (p.Thr1295Ala) rs143836226 0.00004
NM_001042492.3(NF1):c.3947A>G (p.His1316Arg) rs751023085 0.00004
NM_001042492.3(NF1):c.4111-4G>A rs764877783 0.00004
NM_001042492.3(NF1):c.4445T>C (p.Ile1482Thr) rs746994734 0.00004
NM_001042492.3(NF1):c.5255A>G (p.Lys1752Arg) rs864622373 0.00004
NM_001042492.3(NF1):c.5257G>A (p.Val1753Ile) rs148540952 0.00004
NM_001042492.3(NF1):c.61-9T>C rs780956522 0.00004
NM_001042492.3(NF1):c.6428-3C>T rs374014162 0.00004
NM_001042492.3(NF1):c.6643-13T>C rs764601493 0.00004
NM_001042492.3(NF1):c.6664A>G (p.Thr2222Ala) rs745945481 0.00004
NM_001042492.3(NF1):c.7046G>A (p.Arg2349His) rs864622065 0.00004
NM_001042492.3(NF1):c.7528A>G (p.Thr2510Ala) rs145794301 0.00004
NM_001042492.3(NF1):c.8490C>A (p.Phe2830Leu) rs760550772 0.00004
NM_001042492.3(NF1):c.898C>T (p.Leu300=) rs786201926 0.00004
NM_001042492.3(NF1):c.*2073T>C rs139460673 0.00003
NM_001042492.3(NF1):c.*506T>A rs886052804 0.00003
NM_001042492.3(NF1):c.100G>A (p.Val34Ile) rs772995929 0.00003
NM_001042492.3(NF1):c.1308G>A (p.Ser436=) rs765425127 0.00003
NM_001042492.3(NF1):c.134A>G (p.Asn45Ser) rs753189381 0.00003
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.1975C>T (p.Arg659Trp) rs757512142 0.00003
NM_001042492.3(NF1):c.2570A>G (p.Asn857Ser) rs1060500299 0.00003
NM_001042492.3(NF1):c.2585C>G (p.Thr862Ser) rs200302954 0.00003
NM_001042492.3(NF1):c.2747A>G (p.Asn916Ser) rs765043916 0.00003
NM_001042492.3(NF1):c.2821A>G (p.Ile941Val) rs876659888 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.3604G>T (p.Ala1202Ser) rs146641724 0.00003
NM_001042492.3(NF1):c.4185G>T (p.Gln1395His) rs775206746 0.00003
NM_001042492.3(NF1):c.4835+5G>C rs786201306 0.00003
NM_001042492.3(NF1):c.4942A>G (p.Thr1648Ala) rs770558820 0.00003
NM_001042492.3(NF1):c.6022G>A (p.Asp2008Asn) rs786201924 0.00003
NM_001042492.3(NF1):c.6082G>A (p.Ala2028Thr) rs767869530 0.00003
NM_001042492.3(NF1):c.6642+4T>C rs587781687 0.00003
NM_001042492.3(NF1):c.67A>G (p.Ile23Val) rs542824372 0.00003
NM_001042492.3(NF1):c.7003A>G (p.Thr2335Ala) rs370209920 0.00003
NM_001042492.3(NF1):c.7458-7C>T rs758106590 0.00003
NM_001042492.3(NF1):c.7910G>A (p.Arg2637Gln) rs560262404 0.00003
NM_001042492.3(NF1):c.8216T>C (p.Ile2739Thr) rs752541243 0.00003
NM_001042492.3(NF1):c.8479G>T (p.Ala2827Ser) rs199878086 0.00003
NM_001042492.3(NF1):c.864G>C (p.Val288=) rs201181517 0.00003
NM_001042492.3(NF1):c.*194A>C rs1445645953 0.00002
NM_001042492.3(NF1):c.*2540T>G rs896039933 0.00002
NM_001042492.3(NF1):c.1213A>G (p.Thr405Ala) rs587782233 0.00002
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.1620G>T (p.Glu540Asp) rs766748586 0.00002
NM_001042492.3(NF1):c.1701A>G (p.Val567=) rs786203819 0.00002
NM_001042492.3(NF1):c.1955G>A (p.Arg652His) rs587778549 0.00002
NM_001042492.3(NF1):c.2023G>A (p.Gly675Arg) rs779546178 0.00002
NM_001042492.3(NF1):c.212T>C (p.Phe71Ser) rs752396270 0.00002
NM_001042492.3(NF1):c.2282C>T (p.Ala761Val) rs746850653 0.00002
NM_001042492.3(NF1):c.2294G>A (p.Arg765His) rs199474777 0.00002
NM_001042492.3(NF1):c.2458G>A (p.Val820Met) rs761408020 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.2843A>G (p.Gln948Arg) rs746384536 0.00002
NM_001042492.3(NF1):c.3063A>C (p.Val1021=) rs768611775 0.00002
NM_001042492.3(NF1):c.3374C>T (p.Ala1125Val) rs902739109 0.00002
NM_001042492.3(NF1):c.367A>G (p.Thr123Ala) rs587781757 0.00002
NM_001042492.3(NF1):c.3765A>G (p.Gln1255=) rs766896025 0.00002
NM_001042492.3(NF1):c.3970A>G (p.Thr1324Ala) rs189522993 0.00002
NM_001042492.3(NF1):c.4009C>T (p.Arg1337Trp) rs146306756 0.00002
NM_001042492.3(NF1):c.4110+4T>C rs587781700 0.00002
NM_001042492.3(NF1):c.4262C>T (p.Pro1421Leu) rs753997885 0.00002
NM_001042492.3(NF1):c.4285A>G (p.Lys1429Glu) rs758915600 0.00002
NM_001042492.3(NF1):c.4286A>G (p.Lys1429Arg) rs778056258 0.00002
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) rs137854550 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.4958G>A (p.Arg1653His) rs763413441 0.00002
NM_001042492.3(NF1):c.512A>G (p.Asn171Ser) rs767500770 0.00002
NM_001042492.3(NF1):c.5225A>G (p.Asn1742Ser) rs745407845 0.00002
NM_001042492.3(NF1):c.5263A>G (p.Ile1755Val) rs370181275 0.00002
NM_001042492.3(NF1):c.5289A>G (p.Gln1763=) rs199703296 0.00002
NM_001042492.3(NF1):c.529A>G (p.Ile177Val) rs766213678 0.00002
NM_001042492.3(NF1):c.5381T>C (p.Val1794Ala) rs142867979 0.00002
NM_001042492.3(NF1):c.5423C>T (p.Thr1808Met) rs760649828 0.00002
NM_001042492.3(NF1):c.5426C>T (p.Pro1809Leu) rs587782220 0.00002
NM_001042492.3(NF1):c.5470A>G (p.Ile1824Val) rs370858405 0.00002
NM_001042492.3(NF1):c.5680G>C (p.Glu1894Gln) rs774893767 0.00002
NM_001042492.3(NF1):c.623C>T (p.Ala208Val) rs758624540 0.00002
NM_001042492.3(NF1):c.6851C>T (p.Thr2284Ile) rs747881072 0.00002
NM_001042492.3(NF1):c.7055A>G (p.Asn2352Ser) rs763082717 0.00002
NM_001042492.3(NF1):c.7457+8G>T rs376147282 0.00002
NM_001042492.3(NF1):c.7484C>T (p.Ser2495Phe) rs757245615 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.7869+6G>A rs864622318 0.00002
NM_001042492.3(NF1):c.8073T>G (p.His2691Gln) rs375468032 0.00002
NM_001042492.3(NF1):c.8456G>A (p.Ser2819Asn) rs934837854 0.00002
NM_001042492.3(NF1):c.847G>T (p.Asp283Tyr) rs200572531 0.00002
NM_001042492.3(NF1):c.8494C>T (p.Arg2832Cys) rs587782893 0.00002
NM_001042492.3(NF1):c.*1150C>T rs577642473 0.00001
NM_001042492.3(NF1):c.*1187C>A rs1184430338 0.00001
NM_001042492.3(NF1):c.*124C>T rs535911128 0.00001
NM_001042492.3(NF1):c.*887C>G rs2070712503 0.00001
NM_001042492.3(NF1):c.1004A>G (p.Asn335Ser) rs758212945 0.00001
NM_001042492.3(NF1):c.1019C>G (p.Ser340Cys) rs771089333 0.00001
NM_001042492.3(NF1):c.1048G>A (p.Val350Met) rs1185636269 0.00001
NM_001042492.3(NF1):c.1062+6A>G rs1060500291 0.00001
NM_001042492.3(NF1):c.1082G>C (p.Ser361Thr) rs876660103 0.00001
NM_001042492.3(NF1):c.1100G>A (p.Gly367Asp) rs1361040414 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.1153C>T (p.Arg385Cys) rs1322986962 0.00001
NM_001042492.3(NF1):c.1156A>G (p.Ile386Val) rs779930387 0.00001
NM_001042492.3(NF1):c.1219C>T (p.His407Tyr) rs1156614886 0.00001
NM_001042492.3(NF1):c.1241T>G (p.Leu414Arg) rs1334926587 0.00001
NM_001042492.3(NF1):c.1243C>T (p.His415Tyr) rs1415155749 0.00001
NM_001042492.3(NF1):c.1264G>A (p.Ala422Thr) rs786202145 0.00001
NM_001042492.3(NF1):c.1319G>A (p.Arg440Gln) rs1466678870 0.00001
NM_001042492.3(NF1):c.1337C>T (p.Thr446Ile) rs1389152072 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.1392+7T>C rs773017698 0.00001
NM_001042492.3(NF1):c.1392G>A (p.Pro464=) rs201604273 0.00001
NM_001042492.3(NF1):c.1410A>C (p.Glu470Asp) rs786203090 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.1541A>C (p.Gln514Pro) rs775369084 0.00001
NM_001042492.3(NF1):c.1549G>A (p.Glu517Lys) rs587778548 0.00001
NM_001042492.3(NF1):c.1553C>T (p.Thr518Ile) rs587782696 0.00001
NM_001042492.3(NF1):c.1573T>A (p.Leu525Ile) rs2066875204 0.00001
NM_001042492.3(NF1):c.1624G>T (p.Ala542Ser) rs1242297747 0.00001
NM_001042492.3(NF1):c.1641+3A>G rs754159326 0.00001
NM_001042492.3(NF1):c.1642-12T>A rs2066926774 0.00001
NM_001042492.3(NF1):c.1662G>T (p.Gln554His) rs147594815 0.00001
NM_001042492.3(NF1):c.1721+3dup rs1329765790 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.1756A>C (p.Thr586Pro) rs876659242 0.00001
NM_001042492.3(NF1):c.1769T>C (p.Met590Thr) rs761559887 0.00001
NM_001042492.3(NF1):c.1801C>T (p.Arg601Trp) rs587782592 0.00001
NM_001042492.3(NF1):c.1849G>A (p.Ala617Thr) rs1131691135 0.00001
NM_001042492.3(NF1):c.1870T>C (p.Phe624Leu) rs765060733 0.00001
NM_001042492.3(NF1):c.1891G>A (p.Gly631Arg) rs757424379 0.00001
NM_001042492.3(NF1):c.1900A>G (p.Ile634Val) rs745906742 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.1921A>G (p.Ser641Gly) rs769154907 0.00001
NM_001042492.3(NF1):c.1936G>T (p.Asp646Tyr) rs142079728 0.00001
NM_001042492.3(NF1):c.1972C>T (p.Leu658Phe) rs763901597 0.00001
NM_001042492.3(NF1):c.1985A>G (p.Lys662Arg) rs578141234 0.00001
NM_001042492.3(NF1):c.1987G>A (p.Gly663Arg) rs140653372 0.00001
NM_001042492.3(NF1):c.1991A>G (p.Asn664Ser) rs756145065 0.00001
NM_001042492.3(NF1):c.1999A>G (p.Met667Val) rs749833271 0.00001
NM_001042492.3(NF1):c.2002-14C>T rs928979051 0.00001
NM_001042492.3(NF1):c.200A>G (p.Asn67Ser) rs375038808 0.00001
NM_001042492.3(NF1):c.2045A>C (p.Gln682Pro) rs1304889984 0.00001
NM_001042492.3(NF1):c.205-13T>A rs886052797 0.00001
NM_001042492.3(NF1):c.2054C>G (p.Thr685Ser) rs876658190 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.2248A>G (p.Thr750Ala) rs748064845 0.00001
NM_001042492.3(NF1):c.2251+5A>G rs786201934 0.00001
NM_001042492.3(NF1):c.2257G>A (p.Ala753Thr) rs758325102 0.00001
NM_001042492.3(NF1):c.2293C>T (p.Arg765Cys) rs1383770460 0.00001
NM_001042492.3(NF1):c.2296A>G (p.Ile766Val) rs1303924124 0.00001
NM_001042492.3(NF1):c.2326-12C>T rs1028639542 0.00001
NM_001042492.3(NF1):c.2326-9T>A rs181838967 0.00001
NM_001042492.3(NF1):c.2342A>T (p.His781Leu) rs199474763 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.2381A>C (p.Tyr794Ser) rs773624220 0.00001
NM_001042492.3(NF1):c.2409+2T>C rs876660826 0.00001
NM_001042492.3(NF1):c.2409+5G>A rs763688567 0.00001
NM_001042492.3(NF1):c.2410-8G>A rs1060500270 0.00001
NM_001042492.3(NF1):c.2434A>C (p.Ile812Leu) rs587781899 0.00001
NM_001042492.3(NF1):c.2447G>A (p.Arg816Gln) rs762709897 0.00001
NM_001042492.3(NF1):c.2451G>A (p.Met817Ile) rs1300226301 0.00001
NM_001042492.3(NF1):c.2476A>C (p.Ile826Leu) rs767069721 0.00001
NM_001042492.3(NF1):c.2517C>T (p.Asn839=) rs876659543 0.00001
NM_001042492.3(NF1):c.2564G>C (p.Arg855Thr) rs786203716 0.00001
NM_001042492.3(NF1):c.256A>G (p.Ile86Val) rs757057811 0.00001
NM_001042492.3(NF1):c.2573C>G (p.Ser858Cys) rs369493270 0.00001
NM_001042492.3(NF1):c.2576G>C (p.Gly859Ala) rs876659829 0.00001
NM_001042492.3(NF1):c.2577C>T (p.Gly859=) rs746208651 0.00001
NM_001042492.3(NF1):c.2581G>C (p.Ala861Pro) rs768425956 0.00001
NM_001042492.3(NF1):c.2597C>T (p.Pro866Leu) rs767159555 0.00001
NM_001042492.3(NF1):c.2618G>A (p.Arg873His) rs949092641 0.00001
NM_001042492.3(NF1):c.2622G>A (p.Lys874=) rs77917884 0.00001
NM_001042492.3(NF1):c.2624G>T (p.Gly875Val) rs1060500361 0.00001
NM_001042492.3(NF1):c.2629A>G (p.Met877Val) rs764950557 0.00001
NM_001042492.3(NF1):c.2633T>C (p.Ile878Thr) rs372049168 0.00001
NM_001042492.3(NF1):c.2643G>A (p.Met881Ile) rs376666221 0.00001
NM_001042492.3(NF1):c.2659G>A (p.Ala887Thr) rs1251621684 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.2803A>C (p.Asn935His) rs786201823 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.2866A>G (p.Thr956Ala) rs2067082802 0.00001
NM_001042492.3(NF1):c.288G>T (p.Gly96=) rs1430988476 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.2902A>G (p.Met968Val) rs587781499 0.00001
NM_001042492.3(NF1):c.2927C>T (p.Thr976Ile) rs755404523 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.2995G>A (p.Val999Ile) rs2067090218 0.00001
NM_001042492.3(NF1):c.2998C>T (p.Arg1000Cys) rs367684252 0.00001
NM_001042492.3(NF1):c.3009G>T (p.Gly1003=) rs780895334 0.00001
NM_001042492.3(NF1):c.3011A>G (p.Asn1004Ser) rs1475800240 0.00001
NM_001042492.3(NF1):c.3013A>G (p.Met1005Val) rs1555614502 0.00001
NM_001042492.3(NF1):c.3030A>C (p.Gln1010His) rs1405071456 0.00001
NM_001042492.3(NF1):c.3038C>T (p.Thr1013Met) rs786203132 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.3103A>G (p.Met1035Val) rs771694969 0.00001
NM_001042492.3(NF1):c.3124G>A (p.Val1042Ile) rs1446427729 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.3242C>G (p.Ala1081Gly) rs769941435 0.00001
NM_001042492.3(NF1):c.3303G>A (p.Gln1101=) rs876659944 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.3352A>G (p.Ser1118Gly) rs201645318 0.00001
NM_001042492.3(NF1):c.3359T>C (p.Val1120Ala) rs751571517 0.00001
NM_001042492.3(NF1):c.3362A>G (p.Glu1121Gly) rs757222815 0.00001
NM_001042492.3(NF1):c.3394C>T (p.Arg1132Cys) rs587781725 0.00001
NM_001042492.3(NF1):c.3461A>G (p.Asn1154Ser) rs371544233 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.3490T>G (p.Ser1164Ala) rs750303863 0.00001
NM_001042492.3(NF1):c.3527G>T (p.Arg1176Ile) rs1227027709 0.00001
NM_001042492.3(NF1):c.3544G>A (p.Val1182Ile) rs1555615027 0.00001
NM_001042492.3(NF1):c.354C>T (p.Cys118=) rs768777585 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.3619A>C (p.Arg1207=) rs202208560 0.00001
NM_001042492.3(NF1):c.3694C>T (p.Pro1232Ser) rs1482085668 0.00001
NM_001042492.3(NF1):c.3722G>A (p.Arg1241Gln) rs543387071 0.00001
NM_001042492.3(NF1):c.3730G>A (p.Val1244Ile) rs2067186026 0.00001
NM_001042492.3(NF1):c.3732T>A (p.Val1244=) rs756653022 0.00001
NM_001042492.3(NF1):c.3748C>T (p.Arg1250Trp) rs1452005208 0.00001
NM_001042492.3(NF1):c.3749G>A (p.Arg1250Gln) rs199474765 0.00001
NM_001042492.3(NF1):c.374G>A (p.Arg125His) rs149003051 0.00001
NM_001042492.3(NF1):c.3778A>G (p.Met1260Val) rs1264981144 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.3871-4G>C rs558421445 0.00001
NM_001042492.3(NF1):c.3891A>G (p.Leu1297=) rs753036396 0.00001
NM_001042492.3(NF1):c.3906T>G (p.Asp1302Glu) rs549058591 0.00001
NM_001042492.3(NF1):c.3911T>C (p.Leu1304Ser) rs761512189 0.00001
NM_001042492.3(NF1):c.3916C>A (p.Arg1306=) rs376576925 0.00001
NM_001042492.3(NF1):c.3940T>C (p.Trp1314Arg) rs576687606 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.3975-4G>A rs760207624 0.00001
NM_001042492.3(NF1):c.3976T>A (p.Leu1326Ile) rs765957571 0.00001
NM_001042492.3(NF1):c.3988G>C (p.Glu1330Gln) rs1483311407 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.4055G>C (p.Ser1352Thr) rs876660908 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.4110+3A>G rs774669878 0.00001
NM_001042492.3(NF1):c.4118G>A (p.Cys1373Tyr) rs786202990 0.00001
NM_001042492.3(NF1):c.4120C>T (p.His1374Tyr) rs764123241 0.00001
NM_001042492.3(NF1):c.4153A>G (p.Lys1385Glu) rs1259436033 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.4213G>A (p.Val1405Ile) rs1256219174 0.00001
NM_001042492.3(NF1):c.4220G>A (p.Ser1407Asn) rs2067621332 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.4252A>G (p.Ile1418Val) rs369345045 0.00001
NM_001042492.3(NF1):c.4262C>A (p.Pro1421Gln) rs753997885 0.00001
NM_001042492.3(NF1):c.4306G>A (p.Glu1436Lys) rs876660428 0.00001
NM_001042492.3(NF1):c.4333-4G>A rs372709098 0.00001
NM_001042492.3(NF1):c.4346T>C (p.Ile1449Thr) rs1410459904 0.00001
NM_001042492.3(NF1):c.4352A>G (p.Asn1451Ser) rs199474754 0.00001
NM_001042492.3(NF1):c.4373A>G (p.Glu1458Gly) rs878853894 0.00001
NM_001042492.3(NF1):c.4378C>G (p.His1460Asp) rs377295676 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.4385G>A (p.Arg1462Gln) rs370852681 0.00001
NM_001042492.3(NF1):c.4409G>A (p.Ser1470Asn) rs876660093 0.00001
NM_001042492.3(NF1):c.4417G>A (p.Asp1473Asn) rs587781790 0.00001
NM_001042492.3(NF1):c.4421C>T (p.Ala1474Val) rs587781553 0.00001
NM_001042492.3(NF1):c.4446A>G (p.Ile1482Met) rs876658776 0.00001
NM_001042492.3(NF1):c.4460C>T (p.Pro1487Leu) rs2067663223 0.00001
NM_001042492.3(NF1):c.4489T>C (p.Ser1497Pro) rs763266925 0.00001
NM_001042492.3(NF1):c.4495A>G (p.Ile1499Val) rs764654925 0.00001
NM_001042492.3(NF1):c.4504G>A (p.Gly1502Ser) rs876659607 0.00001
NM_001042492.3(NF1):c.4508A>G (p.Asn1503Ser) rs587781445 0.00001
NM_001042492.3(NF1):c.451A>C (p.Asn151His) rs769391944 0.00001
NM_001042492.3(NF1):c.4523A>T (p.His1508Leu) rs1254695587 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.4594G>A (p.Gly1532Arg) rs2067689658 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.4682G>A (p.Ser1561Asn) rs751414513 0.00001
NM_001042492.3(NF1):c.4690C>T (p.Leu1564Phe) rs1427435078 0.00001
NM_001042492.3(NF1):c.4724+3A>G rs781147524 0.00001
NM_001042492.3(NF1):c.4736A>G (p.His1579Arg) rs1275751975 0.00001
NM_001042492.3(NF1):c.475A>G (p.Thr159Ala) rs371192107 0.00001
NM_001042492.3(NF1):c.4766C>T (p.Thr1589Met) rs185660700 0.00001
NM_001042492.3(NF1):c.479+4A>G rs1567818032 0.00001
NM_001042492.3(NF1):c.4793C>A (p.Thr1598Asn) rs753453385 0.00001
NM_001042492.3(NF1):c.4813A>G (p.Ile1605Val) rs199474766 0.00001
NM_001042492.3(NF1):c.4835+3A>G rs1417732851 0.00001
NM_001042492.3(NF1):c.4836G>A (p.Arg1612=) rs1555533268 0.00001
NM_001042492.3(NF1):c.4859G>A (p.Gly1620Asp) rs587782213 0.00001
NM_001042492.3(NF1):c.4870A>G (p.Ile1624Val) rs1555533280 0.00001
NM_001042492.3(NF1):c.4901A>G (p.Tyr1634Cys) rs1597829621 0.00001
NM_001042492.3(NF1):c.4920A>C (p.Glu1640Asp) rs1443684477 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.4948C>T (p.Pro1650Ser) rs1402198290 0.00001
NM_001042492.3(NF1):c.4957C>T (p.Arg1653Cys) rs876659922 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.5126T>C (p.Ile1709Thr) rs876660316 0.00001
NM_001042492.3(NF1):c.5146G>C (p.Ala1716Pro) rs767469374 0.00001
NM_001042492.3(NF1):c.5160G>T (p.Glu1720Asp) rs773378630 0.00001
NM_001042492.3(NF1):c.5161C>T (p.His1721Tyr) rs760936909 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.5290G>A (p.Val1764Ile) rs778427434 0.00001
NM_001042492.3(NF1):c.5293A>G (p.Thr1765Ala) rs747584987 0.00001
NM_001042492.3(NF1):c.5344A>G (p.Ile1782Val) rs1160436761 0.00001
NM_001042492.3(NF1):c.5351A>T (p.Tyr1784Phe) rs1060500280 0.00001
NM_001042492.3(NF1):c.5357C>T (p.Ser1786Leu) rs1555533569 0.00001
NM_001042492.3(NF1):c.5358G>A (p.Ser1786=) rs373313111 0.00001
NM_001042492.3(NF1):c.5407A>G (p.Ile1803Val) rs559910904 0.00001
NM_001042492.3(NF1):c.541C>G (p.Gln181Glu) rs753529924 0.00001
NM_001042492.3(NF1):c.5436C>T (p.Phe1812=) rs864622640 0.00001
NM_001042492.3(NF1):c.5458A>C (p.Ile1820Leu) rs786202459 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.551A>G (p.Asn184Ser) rs876659849 0.00001
NM_001042492.3(NF1):c.5536C>T (p.Arg1846Trp) rs769843989 0.00001
NM_001042492.3(NF1):c.5578C>G (p.Leu1860Val) rs746689492 0.00001
NM_001042492.3(NF1):c.5610-12G>A rs749499960 0.00001
NM_001042492.3(NF1):c.5610-4C>G rs1419030713 0.00001
NM_001042492.3(NF1):c.5610-7C>T rs553657123 0.00001
NM_001042492.3(NF1):c.5665G>A (p.Glu1889Lys) rs764782945 0.00001
NM_001042492.3(NF1):c.5731A>G (p.Ile1911Val) rs146523293 0.00001
NM_001042492.3(NF1):c.5753A>G (p.Asn1918Ser) rs534249104 0.00001
NM_001042492.3(NF1):c.575G>A (p.Arg192Gln) rs587781670 0.00001
NM_001042492.3(NF1):c.5768C>T (p.Thr1923Met) rs786203824 0.00001
NM_001042492.3(NF1):c.584A>G (p.Lys195Arg) rs587778552 0.00001
NM_001042492.3(NF1):c.587-3C>T rs375188075 0.00001
NM_001042492.3(NF1):c.5873G>T (p.Arg1958Leu) rs1296862549 0.00001
NM_001042492.3(NF1):c.5941A>G (p.Met1981Val) rs762935987 0.00001
NM_001042492.3(NF1):c.5947A>G (p.Ile1983Val) rs876658484 0.00001
NM_001042492.3(NF1):c.5951A>G (p.Asn1984Ser) rs764291252 0.00001
NM_001042492.3(NF1):c.6006+4T>C rs754909198 0.00001
NM_001042492.3(NF1):c.607G>T (p.Ala203Ser) rs904361724 0.00001
NM_001042492.3(NF1):c.6148G>T (p.Val2050Phe) rs1300330804 0.00001
NM_001042492.3(NF1):c.619G>A (p.Val207Ile) rs752959118 0.00001
NM_001042492.3(NF1):c.6262C>G (p.Leu2088Val) rs752569823 0.00001
NM_001042492.3(NF1):c.6316G>A (p.Val2106Ile) rs755791578 0.00001
NM_001042492.3(NF1):c.631G>A (p.Ala211Thr) rs781519491 0.00001
NM_001042492.3(NF1):c.6322A>T (p.Thr2108Ser) rs1024333224 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.6442G>A (p.Val2148Ile) rs770993581 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.6470C>T (p.Ser2157Leu) rs774161532 0.00001
NM_001042492.3(NF1):c.6480A>G (p.Lys2160=) rs1060503918 0.00001
NM_001042492.3(NF1):c.6488T>G (p.Leu2163Trp) rs1353492847 0.00001
NM_001042492.3(NF1):c.6643-8T>A rs752079977 0.00001
NM_001042492.3(NF1):c.6646T>A (p.Cys2216Ser) rs757736155 0.00001
NM_001042492.3(NF1):c.6665C>T (p.Thr2222Met) rs369803831 0.00001
NM_001042492.3(NF1):c.6667T>C (p.Cys2223Arg) rs1192120725 0.00001
NM_001042492.3(NF1):c.6671A>G (p.Lys2224Arg) rs749567006 0.00001
NM_001042492.3(NF1):c.6672G>A (p.Lys2224=) rs771835288 0.00001
NM_001042492.3(NF1):c.6704+3A>G rs375560135 0.00001
NM_001042492.3(NF1):c.6748G>A (p.Val2250Ile) rs1208488322 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.6779C>T (p.Ser2260Phe) rs876658775 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.6806G>A (p.Arg2269His) rs562367786 0.00001
NM_001042492.3(NF1):c.680A>T (p.Tyr227Phe) rs1555608742 0.00001
NM_001042492.3(NF1):c.6819+4C>T rs755135948 0.00001
NM_001042492.3(NF1):c.6819+6T>C rs1407700643 0.00001
NM_001042492.3(NF1):c.681T>C (p.Tyr227=) rs745804540 0.00001
NM_001042492.3(NF1):c.6837A>C (p.Leu2279Phe) rs144287929 0.00001
NM_001042492.3(NF1):c.6839A>G (p.Lys2280Arg) rs773858629 0.00001
NM_001042492.3(NF1):c.6921+5T>C rs370402788 0.00001
NM_001042492.3(NF1):c.6921+6T>C rs368541645 0.00001
NM_001042492.3(NF1):c.6922-13T>C rs199901687 0.00001
NM_001042492.3(NF1):c.6922-6T>G rs892776409 0.00001
NM_001042492.3(NF1):c.6936C>G (p.His2312Gln) rs1567618937 0.00001
NM_001042492.3(NF1):c.6958G>A (p.Val2320Met) rs766323701 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.703T>C (p.Tyr235His) rs864622465 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.7087A>G (p.Ile2363Val) rs137966859 0.00001
NM_001042492.3(NF1):c.7091G>A (p.Arg2364Gln) rs1555535407 0.00001
NM_001042492.3(NF1):c.7110C>T (p.His2370=) rs201881479 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.7213A>G (p.Ile2405Val) rs565708398 0.00001
NM_001042492.3(NF1):c.7241A>G (p.His2414Arg) rs876659855 0.00001
NM_001042492.3(NF1):c.7253C>T (p.Thr2418Ile) rs764022114 0.00001
NM_001042492.3(NF1):c.7280A>G (p.Asp2427Gly) rs1359563939 0.00001
NM_001042492.3(NF1):c.7298C>T (p.Thr2433Ile) rs755749772 0.00001
NM_001042492.3(NF1):c.730+16dup rs373999174 0.00001
NM_001042492.3(NF1):c.7306G>A (p.Val2436Met) rs876659856 0.00001
NM_001042492.3(NF1):c.731-5T>C rs1597659721 0.00001
NM_001042492.3(NF1):c.7323T>G (p.Ala2441=) rs765750009 0.00001
NM_001042492.3(NF1):c.7326A>G (p.Leu2442=) rs753224880 0.00001
NM_001042492.3(NF1):c.732A>C (p.Glu244Asp) rs1567826603 0.00001
NM_001042492.3(NF1):c.7341A>C (p.Glu2447Asp) rs878853915 0.00001
NM_001042492.3(NF1):c.7349G>A (p.Arg2450Gln) rs533110479 0.00001
NM_001042492.3(NF1):c.7359C>T (p.Cys2453=) rs1555536126 0.00001
NM_001042492.3(NF1):c.7370A>G (p.His2457Arg) rs863224664 0.00001
NM_001042492.3(NF1):c.7394A>G (p.Asp2465Gly) rs143474365 0.00001
NM_001042492.3(NF1):c.7396A>G (p.Ile2466Val) rs748027595 0.00001
NM_001042492.3(NF1):c.7397T>C (p.Ile2466Thr) rs771915484 0.00001
NM_001042492.3(NF1):c.7402A>G (p.Met2468Val) rs151211377 0.00001
NM_001042492.3(NF1):c.7432A>G (p.Ile2478Val) rs759307070 0.00001
NM_001042492.3(NF1):c.7439A>G (p.His2480Arg) rs371151718 0.00001
NM_001042492.3(NF1):c.7454A>G (p.Tyr2485Cys) rs1022605462 0.00001
NM_001042492.3(NF1):c.7456A>G (p.Arg2486Gly) rs752162999 0.00001
NM_001042492.3(NF1):c.7487C>G (p.Ser2496Cys) rs371773406 0.00001
NM_001042492.3(NF1):c.7493A>G (p.Lys2498Arg) rs1269264795 0.00001
NM_001042492.3(NF1):c.7496G>C (p.Gly2499Ala) rs375176282 0.00001
NM_001042492.3(NF1):c.7496G>T (p.Gly2499Val) rs375176282 0.00001
NM_001042492.3(NF1):c.7510C>G (p.Leu2504Val) rs876658333 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.7534G>A (p.Gly2512Ser) rs766496842 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.7600A>G (p.Thr2534Ala) rs779737221 0.00001
NM_001042492.3(NF1):c.7616-10T>C rs2070272477 0.00001
NM_001042492.3(NF1):c.7616-15A>C rs952554990 0.00001
NM_001042492.3(NF1):c.7643T>G (p.Ile2548Arg) rs864622266 0.00001
NM_001042492.3(NF1):c.7645T>C (p.Ser2549Pro) rs767458044 0.00001
NM_001042492.3(NF1):c.7668G>C (p.Arg2556Ser) rs876659035 0.00001
NM_001042492.3(NF1):c.7675A>G (p.Met2559Val) rs779373258 0.00001
NM_001042492.3(NF1):c.7700C>T (p.Pro2567Leu) rs754511534 0.00001
NM_001042492.3(NF1):c.7729T>C (p.Tyr2577His) rs778143477 0.00001
NM_001042492.3(NF1):c.7742C>G (p.Thr2581Ser) rs757632129 0.00001
NM_001042492.3(NF1):c.7757C>T (p.Ser2586Leu) rs769876049 0.00001
NM_001042492.3(NF1):c.7780C>T (p.Arg2594Cys) rs372787215 0.00001
NM_001042492.3(NF1):c.7781G>A (p.Arg2594His) rs774781617 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.781A>G (p.Lys261Glu) rs2066156804 0.00001
NM_001042492.3(NF1):c.7822G>C (p.Glu2608Gln) rs1597866487 0.00001
NM_001042492.3(NF1):c.7825G>A (p.Val2609Ile) rs786203848 0.00001
NM_001042492.3(NF1):c.7837C>T (p.Pro2613Ser) rs138839077 0.00001
NM_001042492.3(NF1):c.7841A>G (p.Lys2614Arg) rs587781502 0.00001
NM_001042492.3(NF1):c.7850C>T (p.Ala2617Val) rs375990655 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.78A>T (p.Gly26=) rs748018099 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.7951C>T (p.Pro2651Ser) rs367858662 0.00001
NM_001042492.3(NF1):c.8012T>C (p.Leu2671Ser) rs1207124870 0.00001
NM_001042492.3(NF1):c.8080T>C (p.Ser2694Pro) rs876658554 0.00001
NM_001042492.3(NF1):c.8092T>C (p.Tyr2698His) rs1405312220 0.00001
NM_001042492.3(NF1):c.8150C>T (p.Pro2717Leu) rs778799019 0.00001
NM_001042492.3(NF1):c.8182G>A (p.Ala2728Thr) rs750603086 0.00001
NM_001042492.3(NF1):c.8192T>C (p.Ile2731Thr) rs1567628605 0.00001
NM_001042492.3(NF1):c.8237T>C (p.Ile2746Thr) rs756800001 0.00001
NM_001042492.3(NF1):c.8238T>G (p.Ile2746Met) rs779789452 0.00001
NM_001042492.3(NF1):c.824T>C (p.Ile275Thr) rs1406698961 0.00001
NM_001042492.3(NF1):c.8296C>G (p.Leu2766Val) rs749647961 0.00001
NM_001042492.3(NF1):c.8298G>A (p.Leu2766=) rs768947696 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.8378-4C>T rs587782700 0.00001
NM_001042492.3(NF1):c.8378G>C (p.Gly2793Ala) rs1275285522 0.00001
NM_001042492.3(NF1):c.8386A>C (p.Lys2796Gln) rs1383658117 0.00001
NM_001042492.3(NF1):c.83A>C (p.Gln28Pro) rs587782686 0.00001
NM_001042492.3(NF1):c.8423G>C (p.Cys2808Ser) rs148473245 0.00001
NM_001042492.3(NF1):c.8446G>A (p.Gly2816Arg) rs778233452 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.848A>T (p.Asp283Val) rs878853921 0.00001
NM_001042492.3(NF1):c.8495G>A (p.Arg2832His) rs587781523 0.00001
NM_001042492.3(NF1):c.8497A>G (p.Asn2833Asp) rs786202863 0.00001
NM_001042492.3(NF1):c.8500A>G (p.Ser2834Gly) rs764858484 0.00001
NM_001042492.3(NF1):c.8515G>A (p.Val2839Met) rs368149035 0.00001
NM_001042492.3(NF1):c.853T>G (p.Ser285Ala) rs1555608981 0.00001
NM_001042492.3(NF1):c.862G>A (p.Val288Met) rs755670651 0.00001
NM_001042492.3(NF1):c.873A>C (p.Glu291Asp) rs754915138 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_001042492.3(NF1):c.91C>T (p.His31Tyr) rs786202864 0.00001
NM_001042492.3(NF1):c.964A>G (p.Ile322Val) rs755007999 0.00001
NM_001042492.3(NF1):c.970T>G (p.Cys324Gly) rs199474735 0.00001
GRCh37/hg19 17q11.2(chr17:29686894-29711411)x3
NC_000017.10:g.(29687722_29701030)_(29704696_?)dup
NC_000017.10:g.(?_29422048)_(29497025_?)dup
NC_000017.10:g.(?_29422048)_(29510472_?)dup
NC_000017.10:g.(?_29422048)_(29592367_?)dup
NC_000017.10:g.(?_29422055)_(29533409_?)dup
NC_000017.10:g.(?_29422055)_(29552288_?)dup
NC_000017.10:g.(?_29422322)_(29497021_?)dup
NC_000017.10:g.(?_29422322)_(29592363_?)dup
NC_000017.10:g.(?_29482991)_(29534143_?)dup
NC_000017.10:g.(?_29540877)_(29542762_?)dup
NC_000017.10:g.(?_29546017)_(29585526_?)dup
NC_000017.10:g.(?_29575992)_(29576147_?)dup
NC_000017.10:g.(?_29575992)_(29592367_?)dup
NC_000017.10:g.(?_29652818)_(29664918_?)dup
NC_000017.10:g.(?_29663341)_(29665833_?)dup
NC_000017.10:g.(?_29676126)_(29701173_?)dup
NC_000017.10:g.(?_29679265)_(29701183_?)dup
NC_000017.10:g.(?_29687495)_(29701173_?)dup
NC_000017.10:g.(?_29701011)_(29701193_?)dup
NC_000017.10:g.(?_29701021)_(29701183_?)dup
NC_000017.10:g.(?_29701025)_(29701178_?)dup
NC_000017.10:g.(?_29701031)_(29704695_?)dup
NC_000017.11:g.(31082496_31133240)dup
NC_000017.11:g.(?_31095030)_(31104404_?)dup
NC_000017.11:g.(?_31095300)_(31265349_?)dup
NC_000017.11:g.(?_31159000)_(31182675_?)dup
NC_000017.11:g.(?_31169881)_(31236031_?)dup
NC_000017.11:g.(?_31374003)_(31374155_?)del
NC_000017.11:g.(?_31374003)_(31374155_?)dup
NC_000017.11:g.31221839_31221853A[6]TTCAGGCTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAATTCAGGCTC[1]
NC_000017.11:g.31233003_31233008dup
NM_000267.3(NF1):c.7395-?_*3522+?dup
NM_000267.3:c.8455_8456insALU
NM_001042492.3(NF1):c.*11CTTT[1]
NM_001042492.3(NF1):c.*1425C>T rs886052808
NM_001042492.3(NF1):c.*1446T>C rs886052809
NM_001042492.3(NF1):c.*1479A>C rs866235175
NM_001042492.3(NF1):c.*1987C>T rs886052810
NM_001042492.3(NF1):c.*1delinsTCG
NM_001042492.3(NF1):c.*2010A>G rs2070728204
NM_001042492.3(NF1):c.*2132T>C rs551806545
NM_001042492.3(NF1):c.*2638_*2646delinsTTATG rs886052813
NM_001042492.3(NF1):c.*2777C>A rs185015732
NM_001042492.3(NF1):c.*2884T>A rs886052814
NM_001042492.3(NF1):c.*3174A>C rs886052815
NM_001042492.3(NF1):c.*3514G>C rs574282086
NM_001042492.3(NF1):c.*3514G>T rs574282086
NM_001042492.3(NF1):c.*385C>T rs1597883440
NM_001042492.3(NF1):c.*584G>C rs190144445
NM_001042492.3(NF1):c.*584G>T rs190144445
NM_001042492.3(NF1):c.*585G>A rs372804411
NM_001042492.3(NF1):c.*859AT[9] rs369548314
NM_001042492.3(NF1):c.1000A>C (p.Ile334Leu)
NM_001042492.3(NF1):c.1002C>A (p.Ile334=)
NM_001042492.3(NF1):c.1002C>G (p.Ile334Met) rs2143873647
NM_001042492.3(NF1):c.1009G>A (p.Glu337Lys)
NM_001042492.3(NF1):c.1017_1061dup (p.Asn339_Leu353dup) rs2143873915
NM_001042492.3(NF1):c.1018T>G (p.Ser340Ala) rs1567835228
NM_001042492.3(NF1):c.101T>C (p.Val34Ala) rs1217358160
NM_001042492.3(NF1):c.101T>G (p.Val34Gly)
NM_001042492.3(NF1):c.1021G>A (p.Val341Ile) rs1555610907
NM_001042492.3(NF1):c.1021_1038del (p.Val341_Val346del) rs2143874028
NM_001042492.3(NF1):c.1024A>G (p.Ile342Val) rs2066509214
NM_001042492.3(NF1):c.1024A>T (p.Ile342Phe)
NM_001042492.3(NF1):c.1025T>G (p.Ile342Ser)
NM_001042492.3(NF1):c.1029C>A (p.Phe343Leu) rs745914493
NM_001042492.3(NF1):c.1029C>G (p.Phe343Leu)
NM_001042492.3(NF1):c.1032A>T (p.Leu344=) rs199832006
NM_001042492.3(NF1):c.1033C>G (p.Leu345Val)
NM_001042492.3(NF1):c.1033C>T (p.Leu345Phe)
NM_001042492.3(NF1):c.1036G>A (p.Val346Ile)
NM_001042492.3(NF1):c.1037T>C (p.Val346Ala) rs1597681117
NM_001042492.3(NF1):c.1039C>G (p.Gln347Glu) rs1555610910
NM_001042492.3(NF1):c.103A>T (p.Ser35Cys) rs2143625843
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.104G>A (p.Ser35Asn) rs1060500282
NM_001042492.3(NF1):c.1050G>A (p.Val350=)
NM_001042492.3(NF1):c.1051G>A (p.Val351Ile) rs1597681173
NM_001042492.3(NF1):c.1051G>T (p.Val351Phe) rs1597681173
NM_001042492.3(NF1):c.1052T>A (p.Val351Asp) rs878853861
NM_001042492.3(NF1):c.1052T>C (p.Val351Ala) rs878853861
NM_001042492.3(NF1):c.1057C>G (p.Leu353Val) rs2066510027
NM_001042492.3(NF1):c.1057C>T (p.Leu353Phe)
NM_001042492.3(NF1):c.1057_1062del (p.Leu353_Lys354del)
NM_001042492.3(NF1):c.1058T>C (p.Leu353Pro) rs2066510063
NM_001042492.3(NF1):c.1058T>G (p.Leu353Arg)
NM_001042492.3(NF1):c.1061A>C (p.Lys354Thr) rs1135402801
NM_001042492.3(NF1):c.1061A>G (p.Lys354Arg) rs1135402801
NM_001042492.3(NF1):c.1062+2T>G rs2066510391
NM_001042492.3(NF1):c.1062+3A>C rs1057521098
NM_001042492.3(NF1):c.1062+3A>G rs1057521098
NM_001042492.3(NF1):c.1062+3A>T
NM_001042492.3(NF1):c.1062+4A>G rs1243650794
NM_001042492.3(NF1):c.1062+5C>T rs1555610916
NM_001042492.3(NF1):c.1062+6A>C rs1060500291
NM_001042492.3(NF1):c.1062+6A>T
NM_001042492.3(NF1):c.1062_1062+2dup
NM_001042492.3(NF1):c.1067T>C (p.Leu356Pro)
NM_001042492.3(NF1):c.1069C>A (p.Leu357Ile) rs1567835662
NM_001042492.3(NF1):c.1069C>G (p.Leu357Val) rs1567835662
NM_001042492.3(NF1):c.1069C>T (p.Leu357Phe) rs1567835662
NM_001042492.3(NF1):c.106A>C (p.Thr36Pro)
NM_001042492.3(NF1):c.1070T>G (p.Leu357Arg) rs137854563
NM_001042492.3(NF1):c.1073T>A (p.Phe358Tyr) rs2066518753
NM_001042492.3(NF1):c.1073T>C (p.Phe358Ser) rs2066518753
NM_001042492.3(NF1):c.1076A>G (p.Asn359Ser)
NM_001042492.3(NF1):c.1076A>T (p.Asn359Ile) rs2143878548
NM_001042492.3(NF1):c.1077T>A (p.Asn359Lys) rs2066518822
NM_001042492.3(NF1):c.1078C>A (p.Pro360Thr) rs1597681902
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.1080A>C (p.Pro360=) rs777642846
NM_001042492.3(NF1):c.1081A>G (p.Ser361Gly)
NM_001042492.3(NF1):c.1084A>G (p.Lys362Glu) rs2066519027
NM_001042492.3(NF1):c.1085A>G (p.Lys362Arg) rs1555610976
NM_001042492.3(NF1):c.1093T>C (p.Ser365Pro) rs2143878749
NM_001042492.3(NF1):c.1094C>T (p.Ser365Leu)
NM_001042492.3(NF1):c.1096A>G (p.Arg366Gly)
NM_001042492.3(NF1):c.1099G>A (p.Gly367Ser)
NM_001042492.3(NF1):c.109G>A (p.Glu37Lys) rs2143625963
NM_001042492.3(NF1):c.1102A>T (p.Ser368Cys)
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.1112C>T (p.Ala371Val) rs1597681991
NM_001042492.3(NF1):c.1115A>T (p.Asp372Val) rs2066519935
NM_001042492.3(NF1):c.1117G>A (p.Val373Met)
NM_001042492.3(NF1):c.1118T>C (p.Val373Ala) rs1597682016
NM_001042492.3(NF1):c.1120G>A (p.Asp374Asn) rs876658666
NM_001042492.3(NF1):c.1121A>T (p.Asp374Val) rs876660856
NM_001042492.3(NF1):c.1123C>A (p.Leu375Ile)
NM_001042492.3(NF1):c.1123C>G (p.Leu375Val)
NM_001042492.3(NF1):c.1128G>A (p.Met376Ile) rs2143879572
NM_001042492.3(NF1):c.1128G>T (p.Met376Ile)
NM_001042492.3(NF1):c.1129A>G (p.Ile377Val) rs2143879598
NM_001042492.3(NF1):c.1129A>T (p.Ile377Phe) rs2143879598
NM_001042492.3(NF1):c.1134C>G (p.Asp378Glu) rs781367679
NM_001042492.3(NF1):c.1137C>G (p.Cys379Trp)
NM_001042492.3(NF1):c.1138C>G (p.Leu380Val)
NM_001042492.3(NF1):c.1139T>G (p.Leu380Arg) rs1555611004
NM_001042492.3(NF1):c.1141G>A (p.Val381Ile) rs876660276
NM_001042492.3(NF1):c.1141G>T (p.Val381Phe) rs876660276
NM_001042492.3(NF1):c.1144T>C (p.Ser382Pro) rs2066520625
NM_001042492.3(NF1):c.1145C>T (p.Ser382Phe) rs1555611016
NM_001042492.3(NF1):c.1147T>A (p.Cys383Ser)
NM_001042492.3(NF1):c.1148G>T (p.Cys383Phe) rs1597682085
NM_001042492.3(NF1):c.1153C>A (p.Arg385Ser)
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.1154G>C (p.Arg385Pro) rs1350329837
NM_001042492.3(NF1):c.1157T>C (p.Ile386Thr) rs2143880084
NM_001042492.3(NF1):c.1160G>A (p.Ser387Asn) rs1555611025
NM_001042492.3(NF1):c.1160G>T (p.Ser387Ile)
NM_001042492.3(NF1):c.1162C>T (p.Pro388Ser) rs2143880229
NM_001042492.3(NF1):c.116A>G (p.Asn39Ser) rs1567814494
NM_001042492.3(NF1):c.116A>T (p.Asn39Ile) rs1567814494
NM_001042492.3(NF1):c.1172A>G (p.Asn391Ser)
NM_001042492.3(NF1):c.1175A>G (p.Gln392Arg)
NM_001042492.3(NF1):c.1177C>T (p.His393Tyr) rs199474768
NM_001042492.3(NF1):c.1178A>G (p.His393Arg) rs199474769
NM_001042492.3(NF1):c.1179C>A (p.His393Gln)
NM_001042492.3(NF1):c.1182T>A (p.Phe394Leu)
NM_001042492.3(NF1):c.1182T>G (p.Phe394Leu) rs786202581
NM_001042492.3(NF1):c.1183A>C (p.Lys395Gln) rs770767889
NM_001042492.3(NF1):c.1183A>G (p.Lys395Glu) rs770767889
NM_001042492.3(NF1):c.1185+20T>G rs2066522265
NM_001042492.3(NF1):c.1185+5G>A rs1597682182
NM_001042492.3(NF1):c.1185+5G>T
NM_001042492.3(NF1):c.1185+6A>G
NM_001042492.3(NF1):c.1185+6A>T
NM_001042492.3(NF1):c.1185+7G>C rs1322791959
NM_001042492.3(NF1):c.1186-17_1186-7del rs2143884997
NM_001042492.3(NF1):c.1186-3T>C rs2066527385
NM_001042492.3(NF1):c.1186A>C (p.Ile396Leu) rs1413735911
NM_001042492.3(NF1):c.1187T>A (p.Ile396Asn) rs2143885518
NM_001042492.3(NF1):c.1187T>G (p.Ile396Ser)
NM_001042492.3(NF1):c.1188C>G (p.Ile396Met)
NM_001042492.3(NF1):c.1190G>A (p.Cys397Tyr)
NM_001042492.3(NF1):c.1190G>C (p.Cys397Ser) rs786201937
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.1198C>G (p.Gln400Glu)
NM_001042492.3(NF1):c.1199A>G (p.Gln400Arg) rs2143885791
NM_001042492.3(NF1):c.119A>G (p.Lys40Arg)
NM_001042492.3(NF1):c.1200G>C (p.Gln400His) rs2066527837
NM_001042492.3(NF1):c.1204T>G (p.Ser402Ala) rs2143885887
NM_001042492.3(NF1):c.1207C>A (p.Pro403Thr) rs2066527867
NM_001042492.3(NF1):c.1207C>T (p.Pro403Ser) rs2066527867
NM_001042492.3(NF1):c.1208C>T (p.Pro403Leu)
NM_001042492.3(NF1):c.120G>C (p.Lys40Asn) rs2065656004
NM_001042492.3(NF1):c.1211C>A (p.Ser404Tyr) rs1597682758
NM_001042492.3(NF1):c.1213A>T (p.Thr405Ser)
NM_001042492.3(NF1):c.1214C>T (p.Thr405Ile) rs1555611082
NM_001042492.3(NF1):c.1216T>C (p.Phe406Leu)
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.1226T>A (p.Val409Glu) rs876660378
NM_001042492.3(NF1):c.1229T>G (p.Leu410Arg) rs1376759287
NM_001042492.3(NF1):c.122A>C (p.Glu41Ala) rs786203038
NM_001042492.3(NF1):c.1231G>A (p.Val411Ile) rs199703072
NM_001042492.3(NF1):c.1231G>C (p.Val411Leu)
NM_001042492.3(NF1):c.1233A>G (p.Val411=) rs2143886403
NM_001042492.3(NF1):c.1234A>T (p.Asn412Tyr) rs2143886448
NM_001042492.3(NF1):c.1235A>G (p.Asn412Ser) rs1567836090
NM_001042492.3(NF1):c.1237T>A (p.Ser413Thr) rs1555611093
NM_001042492.3(NF1):c.1238C>T (p.Ser413Leu)
NM_001042492.3(NF1):c.1241T>C (p.Leu414Pro)
NM_001042492.3(NF1):c.1244A>G (p.His415Arg) rs1555611097
NM_001042492.3(NF1):c.1246C>G (p.Arg416Gly)
NM_001042492.3(NF1):c.1247G>C (p.Arg416Pro)
NM_001042492.3(NF1):c.1252A>G (p.Ile418Val) rs1597682898
NM_001042492.3(NF1):c.1254C>T (p.Ile418=)
NM_001042492.3(NF1):c.1258A>C (p.Asn420His) rs2066529281
NM_001042492.3(NF1):c.1258A>G (p.Asn420Asp)
NM_001042492.3(NF1):c.1259A>G (p.Asn420Ser) rs1555611107
NM_001042492.3(NF1):c.125G>A (p.Cys42Tyr) rs2143626240
NM_001042492.3(NF1):c.1260+15T>C
NM_001042492.3(NF1):c.1260+3A>G
NM_001042492.3(NF1):c.1260+4A>G rs2066529521
NM_001042492.3(NF1):c.1260+4A>T rs2066529521
NM_001042492.3(NF1):c.1260+5G>T rs1060500253
NM_001042492.3(NF1):c.1260+6T>A
NM_001042492.3(NF1):c.1260+6T>C rs1555611111
NM_001042492.3(NF1):c.1260+6T>G rs1555611111
NM_001042492.3(NF1):c.1260T>C (p.Asn420=) rs2143887054
NM_001042492.3(NF1):c.1261-20T>A rs2143913090
NM_001042492.3(NF1):c.1261-3T>A rs761761583
NM_001042492.3(NF1):c.1261-3T>C
NM_001042492.3(NF1):c.1261-4C>G rs587781820
NM_001042492.3(NF1):c.1261T>A (p.Ser421Thr) rs878853864
NM_001042492.3(NF1):c.1261T>G (p.Ser421Ala) rs878853864
NM_001042492.3(NF1):c.1262C>T (p.Ser421Phe)
NM_001042492.3(NF1):c.1263C>A (p.Ser421=) rs767410768
NM_001042492.3(NF1):c.1264G>T (p.Ala422Ser) rs786202145
NM_001042492.3(NF1):c.1265C>T (p.Ala422Val) rs2143913535
NM_001042492.3(NF1):c.1268T>G (p.Leu423Trp)
NM_001042492.3(NF1):c.1270G>A (p.Asp424Asn) rs2066619067
NM_001042492.3(NF1):c.1273T>C (p.Trp425Arg)
NM_001042492.3(NF1):c.1274G>C (p.Trp425Ser) rs1597688734
NM_001042492.3(NF1):c.1280C>T (p.Pro427Leu) rs1597688746
NM_001042492.3(NF1):c.1282A>G (p.Lys428Glu) rs1597688751
NM_001042492.3(NF1):c.1286T>C (p.Ile429Thr) rs2143913858
NM_001042492.3(NF1):c.1289A>T (p.Asp430Val)
NM_001042492.3(NF1):c.128T>G (p.Leu43Arg)
NM_001042492.3(NF1):c.1291G>A (p.Ala431Thr) rs2066619337
NM_001042492.3(NF1):c.1291G>T (p.Ala431Ser)
NM_001042492.3(NF1):c.1295T>C (p.Val432Ala) rs866238485
NM_001042492.3(NF1):c.1298A>T (p.Tyr433Phe)
NM_001042492.3(NF1):c.129_131del (p.Ile44del) rs1597625973
NM_001042492.3(NF1):c.1303C>T (p.His435Tyr)
NM_001042492.3(NF1):c.1304A>G (p.His435Arg) rs1555611571
NM_001042492.3(NF1):c.1305C>A (p.His435Gln)
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.1310T>A (p.Val437Asp) rs876658642
NM_001042492.3(NF1):c.1310T>C (p.Val437Ala) rs876658642
NM_001042492.3(NF1):c.1315C>T (p.Leu439Phe)
NM_001042492.3(NF1):c.1316T>C (p.Leu439Pro) rs2143914353
NM_001042492.3(NF1):c.1316T>G (p.Leu439Arg)
NM_001042492.3(NF1):c.1319G>C (p.Arg440Pro)
NM_001042492.3(NF1):c.131T>A (p.Ile44Asn)
NM_001042492.3(NF1):c.1321A>G (p.Asn441Asp) rs2066620307
NM_001042492.3(NF1):c.1322A>G (p.Asn441Ser) rs370020114
NM_001042492.3(NF1):c.1324A>G (p.Met442Val) rs2066620431
NM_001042492.3(NF1):c.1325T>C (p.Met442Thr) rs1555611580
NM_001042492.3(NF1):c.1326G>A (p.Met442Ile)
NM_001042492.3(NF1):c.1328T>C (p.Phe443Ser) rs1555611581
NM_001042492.3(NF1):c.132C>G (p.Ile44Met)
NM_001042492.3(NF1):c.1330G>A (p.Gly444Ser)
NM_001042492.3(NF1):c.1330G>C (p.Gly444Arg) rs1162173842
NM_001042492.3(NF1):c.1331G>A (p.Gly444Asp) rs1555611582
NM_001042492.3(NF1):c.1331G>C (p.Gly444Ala)
NM_001042492.3(NF1):c.1336A>G (p.Thr446Ala)
NM_001042492.3(NF1):c.1339C>G (p.Leu447Val) rs2066620866
NM_001042492.3(NF1):c.1339C>T (p.Leu447Phe)
NM_001042492.3(NF1):c.1342C>A (p.His448Asn)
NM_001042492.3(NF1):c.1342C>T (p.His448Tyr) rs1131691257
NM_001042492.3(NF1):c.1343A>G (p.His448Arg)
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.134A>C (p.Asn45Thr)
NM_001042492.3(NF1):c.1351G>A (p.Val451Met)
NM_001042492.3(NF1):c.1352T>C (p.Val451Ala) rs747466938
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>A (p.Gly453Asp) rs876660915
NM_001042492.3(NF1):c.1358G>C (p.Gly453Ala)
NM_001042492.3(NF1):c.1358G>T (p.Gly453Val) rs876660915
NM_001042492.3(NF1):c.1361G>A (p.Cys454Tyr) rs983914251
NM_001042492.3(NF1):c.1363_1364delinsAA (p.Gly455Lys)
NM_001042492.3(NF1):c.1364G>A (p.Gly455Glu)
NM_001042492.3(NF1):c.1364G>T (p.Gly455Val)
NM_001042492.3(NF1):c.1367C>T (p.Ala456Val) rs1597688962
NM_001042492.3(NF1):c.1369C>G (p.His457Asp)
NM_001042492.3(NF1):c.1370A>T (p.His457Leu) rs786202763
NM_001042492.3(NF1):c.1370_1372del (p.His457del) rs1567838357
NM_001042492.3(NF1):c.1371C>A (p.His457Gln) rs1318894606
NM_001042492.3(NF1):c.1371C>G (p.His457Gln)
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>A (p.Ala459Glu) rs1131691070
NM_001042492.3(NF1):c.1376C>T (p.Ala459Val) rs1131691070
NM_001042492.3(NF1):c.1378A>G (p.Ile460Val)
NM_001042492.3(NF1):c.1379T>C (p.Ile460Thr) rs147417054
NM_001042492.3(NF1):c.1380A>G (p.Ile460Met)
NM_001042492.3(NF1):c.1381C>A (p.Arg461=) rs878853865
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.1384A>G (p.Met462Val)
NM_001042492.3(NF1):c.1386G>A (p.Met462Ile)
NM_001042492.3(NF1):c.1387G>A (p.Ala463Thr)
NM_001042492.3(NF1):c.1387G>C (p.Ala463Pro) rs1555611607
NM_001042492.3(NF1):c.1388C>T (p.Ala463Val)
NM_001042492.3(NF1):c.1390C>T (p.Pro464Ser)
NM_001042492.3(NF1):c.1391C>A (p.Pro464Gln) rs1269425503
NM_001042492.3(NF1):c.1391C>T (p.Pro464Leu) rs1269425503
NM_001042492.3(NF1):c.1392+4A>G rs1555611611
NM_001042492.3(NF1):c.1392+5G>A rs199999754
NM_001042492.3(NF1):c.1392+5_1392+6delinsTT rs587782851
NM_001042492.3(NF1):c.1392G>T (p.Pro464=) rs201604273
NM_001042492.3(NF1):c.1393-1555C>G
NM_001042492.3(NF1):c.1393-1G>T rs1131691131
NM_001042492.3(NF1):c.1393-2dup rs1394021280
NM_001042492.3(NF1):c.1393-9T>C rs1314978150
NM_001042492.3(NF1):c.1393A>G (p.Ser465Gly)
NM_001042492.3(NF1):c.1394G>A (p.Ser465Asn)
NM_001042492.3(NF1):c.1396C>G (p.Leu466Val) rs2143958637
NM_001042492.3(NF1):c.1399A>C (p.Thr467Pro)
NM_001042492.3(NF1):c.1400C>A (p.Thr467Lys) rs1567841729
NM_001042492.3(NF1):c.1400C>T (p.Thr467Ile) rs1567841729
NM_001042492.3(NF1):c.1404T>A (p.Phe468Leu)
NM_001042492.3(NF1):c.1405A>G (p.Lys469Glu) rs1555612271
NM_001042492.3(NF1):c.1406A>G (p.Lys469Arg) rs2066785596
NM_001042492.3(NF1):c.1407A>C (p.Lys469Asn)
NM_001042492.3(NF1):c.1407A>G (p.Lys469=) rs2143958833
NM_001042492.3(NF1):c.1409A>G (p.Glu470Gly)
NM_001042492.3(NF1):c.1414_1440dup (p.Val472_Lys480dup) rs1597698326
NM_001042492.3(NF1):c.1418C>T (p.Thr473Ile) rs2143958993
NM_001042492.3(NF1):c.1421G>A (p.Ser474Asn) rs2066785879
NM_001042492.3(NF1):c.1421G>C (p.Ser474Thr) rs2066785879
NM_001042492.3(NF1):c.1423C>G (p.Leu475Val)
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.1432A>G (p.Lys478Glu)
NM_001042492.3(NF1):c.1439A>C (p.Lys480Thr) rs587781675
NM_001042492.3(NF1):c.143A>C (p.Lys48Thr) rs1555604902
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.1448A>T (p.Asp483Val)
NM_001042492.3(NF1):c.1456A>T (p.Thr486Ser) rs1060500305
NM_001042492.3(NF1):c.1457C>T (p.Thr486Ile) rs1019393337
NM_001042492.3(NF1):c.1459A>G (p.Arg487Gly) rs1597698420
NM_001042492.3(NF1):c.145T>C (p.Tyr49His)
NM_001042492.3(NF1):c.1460G>A (p.Arg487Lys) rs1135402809
NM_001042492.3(NF1):c.1463G>A (p.Ser488Asn) rs2066786622
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.1465_1466insGGAGACAAGAAGAGA (p.Tyr489delinsTrpArgGlnGluGluAsn)
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.1469A>T (p.Lys490Met)
NM_001042492.3(NF1):c.146A>G (p.Tyr49Cys) rs2143626634
NM_001042492.3(NF1):c.146A>T (p.Tyr49Phe)
NM_001042492.3(NF1):c.1471T>A (p.Tyr491Asn) rs2143959726
NM_001042492.3(NF1):c.1477C>G (p.Leu493Val) rs1135402812
NM_001042492.3(NF1):c.1477C>T (p.Leu493Phe) rs1135402812
NM_001042492.3(NF1):c.1478T>G (p.Leu493Arg)
NM_001042492.3(NF1):c.1480T>A (p.Leu494Met) rs878853867
NM_001042492.3(NF1):c.1481T>C (p.Leu494Ser)
NM_001042492.3(NF1):c.1482G>T (p.Leu494Phe)
NM_001042492.3(NF1):c.1482_1499del (p.Leu494_Ile500delinsPhe) rs2143959924
NM_001042492.3(NF1):c.1486A>T (p.Met496Leu)
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.1491_1499del (p.Lys498_Ile500del) rs2143960093
NM_001042492.3(NF1):c.1493A>G (p.Lys498Arg)
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.1498_1500del (p.Ile500del) rs2143960261
NM_001042492.3(NF1):c.1499T>A (p.Ile500Asn) rs2066787362
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>C (p.Lys50Asn) rs1597626037
NM_001042492.3(NF1):c.150G>T (p.Lys50Asn)
NM_001042492.3(NF1):c.1510C>A (p.Pro504Thr) rs1597698495
NM_001042492.3(NF1):c.1510C>G (p.Pro504Ala)
NM_001042492.3(NF1):c.1510_1524del (p.Pro504_Leu508del) rs2143960475
NM_001042492.3(NF1):c.1515G>C (p.Lys505Asn)
NM_001042492.3(NF1):c.1517T>G (p.Leu506Arg)
NM_001042492.3(NF1):c.1522C>A (p.Leu508Ile)
NM_001042492.3(NF1):c.1522C>T (p.Leu508Phe) rs1597698512
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.1527+2dup rs1597698533
NM_001042492.3(NF1):c.1527+3A>C rs2066788106
NM_001042492.3(NF1):c.1527+5G>A rs1060500352
NM_001042492.3(NF1):c.1527+5G>C rs1060500352
NM_001042492.3(NF1):c.1527T>C (p.Cys509=)
NM_001042492.3(NF1):c.1528-1G>T rs876660595
NM_001042492.3(NF1):c.1528-3C>T rs1060500294
NM_001042492.3(NF1):c.1528-9dup rs776722942
NM_001042492.3(NF1):c.1529A>C (p.Asn510Thr) rs876660091
NM_001042492.3(NF1):c.1529A>G (p.Asn510Ser) rs876660091
NM_001042492.3(NF1):c.1535G>T (p.Arg512Ile)
NM_001042492.3(NF1):c.1536A>C (p.Arg512Ser)
NM_001042492.3(NF1):c.1538A>G (p.Lys513Arg) rs876659336
NM_001042492.3(NF1):c.1541A>G (p.Gln514Arg) rs775369084
NM_001042492.3(NF1):c.1543G>A (p.Gly515Arg)
NM_001042492.3(NF1):c.1544G>A (p.Gly515Glu) rs2143985792
NM_001042492.3(NF1):c.1546C>A (p.Pro516Thr)
NM_001042492.3(NF1):c.1546C>T (p.Pro516Ser)
NM_001042492.3(NF1):c.1547C>G (p.Pro516Arg)
NM_001042492.3(NF1):c.1547C>T (p.Pro516Leu)
NM_001042492.3(NF1):c.1551A>C (p.Glu517Asp)
NM_001042492.3(NF1):c.1559G>A (p.Gly520Asp)
NM_001042492.3(NF1):c.1560C>T (p.Gly520=) rs112168406
NM_001042492.3(NF1):c.1565C>T (p.Thr522Ile)
NM_001042492.3(NF1):c.1568C>A (p.Ala523Glu) rs2143986218
NM_001042492.3(NF1):c.1570G>A (p.Glu524Lys)
NM_001042492.3(NF1):c.1571A>G (p.Glu524Gly)
NM_001042492.3(NF1):c.1579A>T (p.Thr527Ser) rs1567843874
NM_001042492.3(NF1):c.1582G>A (p.Gly528Arg) rs2143986428
NM_001042492.3(NF1):c.1582G>T (p.Gly528Trp) rs2143986428
NM_001042492.3(NF1):c.1583G>A (p.Gly528Glu)
NM_001042492.3(NF1):c.1586T>A (p.Leu529His)
NM_001042492.3(NF1):c.1592A>T (p.Gln531Leu) rs2143986626
NM_001042492.3(NF1):c.1593A>C (p.Gln531His) rs773712266
NM_001042492.3(NF1):c.1594C>T (p.Leu532=) rs2143986669
NM_001042492.3(NF1):c.1595T>C (p.Leu532Pro) rs199474737
NM_001042492.3(NF1):c.1598T>A (p.Val533Asp)
NM_001042492.3(NF1):c.159G>C (p.Leu53Phe)
NM_001042492.3(NF1):c.1600C>T (p.Pro534Ser) rs1555612858
NM_001042492.3(NF1):c.1601C>G (p.Pro534Arg)
NM_001042492.3(NF1):c.1602_1603del (p.Gln535fs) rs2143986796
NM_001042492.3(NF1):c.1605G>A (p.Gln535=) rs1567843919
NM_001042492.3(NF1):c.1607C>T (p.Ser536Leu) rs1555612859
NM_001042492.3(NF1):c.1609C>T (p.His537Tyr) rs786203860
NM_001042492.3(NF1):c.160G>A (p.Val54Ile) rs1060500330
NM_001042492.3(NF1):c.160G>T (p.Val54Phe) rs1060500330
NM_001042492.3(NF1):c.1611C>A (p.His537Gln) rs1597703539
NM_001042492.3(NF1):c.1614G>A (p.Met538Ile)
NM_001042492.3(NF1):c.1615C>G (p.Pro539Ala) rs1060500366
NM_001042492.3(NF1):c.1621A>G (p.Ile541Val) rs876660632
NM_001042492.3(NF1):c.1624G>A (p.Ala542Thr)
NM_001042492.3(NF1):c.1627C>G (p.Gln543Glu)
NM_001042492.3(NF1):c.1629G>C (p.Gln543His) rs2143987265
NM_001042492.3(NF1):c.1630G>A (p.Glu544Lys)
NM_001042492.3(NF1):c.1631A>C (p.Glu544Ala)
NM_001042492.3(NF1):c.1633G>C (p.Ala545Pro) rs1567843945
NM_001042492.3(NF1):c.1633G>T (p.Ala545Ser)
NM_001042492.3(NF1):c.1633_1634delinsAA (p.Ala545Lys) rs2143987303
NM_001042492.3(NF1):c.1634C>T (p.Ala545Val)
NM_001042492.3(NF1):c.1636A>G (p.Met546Val) rs2066877456
NM_001042492.3(NF1):c.1640_1641+1del rs2143987443
NM_001042492.3(NF1):c.1641+12A>G
NM_001042492.3(NF1):c.1641+4A>C rs1597703610
NM_001042492.3(NF1):c.1641+4A>G rs1597703610
NM_001042492.3(NF1):c.1641+5G>C rs2066878047
NM_001042492.3(NF1):c.1641G>A (p.Glu547=)
NM_001042492.3(NF1):c.1642-12dup rs2144003305
NM_001042492.3(NF1):c.1642-3C>T rs1597706610
NM_001042492.3(NF1):c.1642-5T>A
NM_001042492.3(NF1):c.1642-9A>G rs1597706581
NM_001042492.3(NF1):c.1642G>C (p.Ala548Pro)
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.1649T>C (p.Leu550Pro) rs886052798
NM_001042492.3(NF1):c.164T>A (p.Ile55Lys) rs2065657050
NM_001042492.3(NF1):c.164T>C (p.Ile55Thr) rs2065657050
NM_001042492.3(NF1):c.1652T>C (p.Val551Ala) rs113867817
NM_001042492.3(NF1):c.1652T>G (p.Val551Gly)
NM_001042492.3(NF1):c.1655T>C (p.Leu552Pro) rs1555613193
NM_001042492.3(NF1):c.1655T>G (p.Leu552Arg) rs1555613193
NM_001042492.3(NF1):c.1657C>A (p.His553Asn)
NM_001042492.3(NF1):c.1657C>T (p.His553Tyr)
NM_001042492.3(NF1):c.1661A>G (p.Gln554Arg) rs863224656
NM_001042492.3(NF1):c.1663T>G (p.Leu555Val)
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.1669A>G (p.Ser557Gly)
NM_001042492.3(NF1):c.166A>G (p.Ser56Gly) rs751891720
NM_001042492.3(NF1):c.1670G>A (p.Ser557Asn) rs1567845046
NM_001042492.3(NF1):c.1672A>G (p.Ile558Val) rs2066928417
NM_001042492.3(NF1):c.1673T>C (p.Ile558Thr) rs2144004218
NM_001042492.3(NF1):c.1675G>A (p.Asp559Asn) rs2144004244
NM_001042492.3(NF1):c.1675G>T (p.Asp559Tyr)
NM_001042492.3(NF1):c.1677T>A (p.Asp559Glu) rs1209447028
NM_001042492.3(NF1):c.1677T>G (p.Asp559Glu)
NM_001042492.3(NF1):c.1685A>C (p.Asn562Thr) rs1597706709
NM_001042492.3(NF1):c.1687C>T (p.Pro563Ser) rs2066928705
NM_001042492.3(NF1):c.1690G>A (p.Asp564Asn) rs2144004484
NM_001042492.3(NF1):c.1690G>T (p.Asp564Tyr) rs2144004484
NM_001042492.3(NF1):c.1692T>G (p.Asp564Glu) rs1597706718
NM_001042492.3(NF1):c.1693G>A (p.Ala565Thr)
NM_001042492.3(NF1):c.1696C>G (p.Pro566Ala) rs2066928875
NM_001042492.3(NF1):c.1697C>T (p.Pro566Leu)
NM_001042492.3(NF1):c.1699G>A (p.Val567Ile) rs1555613200
NM_001042492.3(NF1):c.169G>T (p.Gly57Cys) rs779727341
NM_001042492.3(NF1):c.1700T>C (p.Val567Ala) rs2144004648
NM_001042492.3(NF1):c.1702G>C (p.Glu568Gln)
NM_001042492.3(NF1):c.1703A>G (p.Glu568Gly) rs1597706730
NM_001042492.3(NF1):c.1705A>G (p.Thr569Ala)
NM_001042492.3(NF1):c.170G>A (p.Gly57Asp) rs1555604925
NM_001042492.3(NF1):c.170G>T (p.Gly57Val)
NM_001042492.3(NF1):c.1711T>A (p.Trp571Arg) rs2144004785
NM_001042492.3(NF1):c.1714_1721+5del rs1135402821
NM_001042492.3(NF1):c.1716G>T (p.Glu572Asp) rs2066929357
NM_001042492.3(NF1):c.1717A>C (p.Ile573Leu) rs1597706766
NM_001042492.3(NF1):c.1717A>G (p.Ile573Val) rs1597706766
NM_001042492.3(NF1):c.1719T>G (p.Ile573Met) rs2144004922
NM_001042492.3(NF1):c.1720A>C (p.Ser574Arg) rs2066929440
NM_001042492.3(NF1):c.1720A>G (p.Ser574Gly)
NM_001042492.3(NF1):c.1721+19_1721+21del rs762735676
NM_001042492.3(NF1):c.1721+4T>A rs766836356
NM_001042492.3(NF1):c.1721+542A>G rs2066942173
NM_001042492.3(NF1):c.1721+5A>G rs876658961
NM_001042492.3(NF1):c.1721+6T>C rs2144005065
NM_001042492.3(NF1):c.1721+6T>G rs2144005065
NM_001042492.3(NF1):c.1722-13T>G
NM_001042492.3(NF1):c.1722-14_1722-5del rs2144015153
NM_001042492.3(NF1):c.1722-24A>G rs1567845793
NM_001042492.3(NF1):c.1722-24_1722-12del rs2144014907
NM_001042492.3(NF1):c.1722-3C>A rs770211384
NM_001042492.3(NF1):c.1722-3C>T
NM_001042492.3(NF1):c.1722-5_1765dup
NM_001042492.3(NF1):c.1722-8T>G
NM_001042492.3(NF1):c.1722-9T>G rs1567845805
NM_001042492.3(NF1):c.1722C>G (p.Ser574Arg) rs2144015494
NM_001042492.3(NF1):c.1727A>G (p.Gln576Arg)
NM_001042492.3(NF1):c.172C>G (p.Leu58Val)
NM_001042492.3(NF1):c.172C>T (p.Leu58Phe) rs2065657352
NM_001042492.3(NF1):c.1731G>A (p.Met577Ile)
NM_001042492.3(NF1):c.1735T>C (p.Phe579Leu) rs2066962078
NM_001042492.3(NF1):c.1741A>C (p.Ile581Leu)
NM_001042492.3(NF1):c.1741A>G (p.Ile581Val) rs2066962216
NM_001042492.3(NF1):c.1743C>G (p.Ile581Met)
NM_001042492.3(NF1):c.1744T>C (p.Cys582Arg) rs1597708661
NM_001042492.3(NF1):c.1744T>G (p.Cys582Gly) rs1597708661
NM_001042492.3(NF1):c.1745G>C (p.Cys582Ser) rs2066962321
NM_001042492.3(NF1):c.1746C>G (p.Cys582Trp) rs2066962353
NM_001042492.3(NF1):c.1747A>G (p.Lys583Glu)
NM_001042492.3(NF1):c.174C>T (p.Leu58=) rs2065657421
NM_001042492.3(NF1):c.1751A>G (p.Lys584Arg)
NM_001042492.3(NF1):c.1751A>T (p.Lys584Ile) rs1567845855
NM_001042492.3(NF1):c.1755A>C (p.Leu585Phe)
NM_001042492.3(NF1):c.1756A>G (p.Thr586Ala) rs876659242
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.175A>G (p.Thr59Ala) rs1567814586
NM_001042492.3(NF1):c.175A>T (p.Thr59Ser) rs1567814586
NM_001042492.3(NF1):c.1762C>A (p.His588Asn) rs2066962798
NM_001042492.3(NF1):c.1762C>T (p.His588Tyr)
NM_001042492.3(NF1):c.1765C>A (p.Gln589Lys) rs1282299543
NM_001042492.3(NF1):c.1767A>C (p.Gln589His)
NM_001042492.3(NF1):c.1767A>T (p.Gln589His)
NM_001042492.3(NF1):c.176C>G (p.Thr59Ser) rs876659891
NM_001042492.3(NF1):c.176CTA[1] (p.Thr60del) rs2143627187
NM_001042492.3(NF1):c.1770G>C (p.Met590Ile) rs2144016315
NM_001042492.3(NF1):c.1771C>G (p.Leu591Val) rs767247726
NM_001042492.3(NF1):c.1775G>A (p.Ser592Asn) rs760256377
NM_001042492.3(NF1):c.1778G>A (p.Ser593Asn) rs2066963100
NM_001042492.3(NF1):c.1778G>T (p.Ser593Ile)
NM_001042492.3(NF1):c.1780A>G (p.Thr594Ala) rs1555613419
NM_001042492.3(NF1):c.1788T>G (p.Ile596Met) rs2066963288
NM_001042492.3(NF1):c.1789C>T (p.Leu597Phe) rs2066963329
NM_001042492.3(NF1):c.1791C>T (p.Leu597=)
NM_001042492.3(NF1):c.1793A>C (p.Lys598Thr) rs2066963397
NM_001042492.3(NF1):c.1793A>G (p.Lys598Arg) rs2066963397
NM_001042492.3(NF1):c.1795T>C (p.Trp599Arg)
NM_001042492.3(NF1):c.179C>G (p.Thr60Ser) rs1007047958
NM_001042492.3(NF1):c.179C>T (p.Thr60Ile)
NM_001042492.3(NF1):c.1802G>A (p.Arg601Gln) rs1060500288
NM_001042492.3(NF1):c.1804G>C (p.Glu602Gln) rs1060500322
NM_001042492.3(NF1):c.1805A>T (p.Glu602Val) rs1597708772
NM_001042492.3(NF1):c.1806A>T (p.Glu602Asp) rs370454753
NM_001042492.3(NF1):c.1812G>T (p.Leu604Phe) rs2066963883
NM_001042492.3(NF1):c.1813A>G (p.Ile605Val) rs2144016888
NM_001042492.3(NF1):c.1814T>C (p.Ile605Thr) rs386833409
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.1819A>G (p.Arg607Gly)
NM_001042492.3(NF1):c.1825A>C (p.Lys609Gln)
NM_001042492.3(NF1):c.1826A>G (p.Lys609Arg) rs1597708810
NM_001042492.3(NF1):c.1829T>A (p.Phe610Tyr) rs2144017133
NM_001042492.3(NF1):c.1831C>T (p.Leu611Phe)
NM_001042492.3(NF1):c.1831CTT[1] (p.Leu612del) rs2066964109
NM_001042492.3(NF1):c.1839_1844del (p.Asn614_Lys615del) rs1597708816
NM_001042492.3(NF1):c.1845+3A>C rs2066964401
NM_001042492.3(NF1):c.1845+3A>T
NM_001042492.3(NF1):c.1845+4del
NM_001042492.3(NF1):c.1845+5G>A
NM_001042492.3(NF1):c.1846-1G>T rs1264981771
NM_001042492.3(NF1):c.1846-2A>G rs1567846609
NM_001042492.3(NF1):c.1846-3T>A rs1555613541
NM_001042492.3(NF1):c.1846-3T>C rs1555613541
NM_001042492.3(NF1):c.1846-8T>A rs886052799
NM_001042492.3(NF1):c.1846C>G (p.Gln616Glu) rs1555613543
NM_001042492.3(NF1):c.1850C>A (p.Ala617Glu) rs1461412558
NM_001042492.3(NF1):c.1852G>A (p.Asp618Asn)
NM_001042492.3(NF1):c.1853A>G (p.Asp618Gly)
NM_001042492.3(NF1):c.1854T>G (p.Asp618Glu) rs1184750227
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.1859_1861del (p.Ser620_Ser621delinsThr) rs2066989737
NM_001042492.3(NF1):c.1862C>T (p.Ser621Phe) rs760346063
NM_001042492.3(NF1):c.1864T>G (p.Cys622Gly)
NM_001042492.3(NF1):c.1865G>A (p.Cys622Tyr) rs535869486
NM_001042492.3(NF1):c.1866T>C (p.Cys622=) rs753245823
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.1869C>A (p.His623Gln)
NM_001042492.3(NF1):c.1869C>G (p.His623Gln) rs1555613556
NM_001042492.3(NF1):c.1871T>C (p.Phe624Ser) rs1597710397
NM_001042492.3(NF1):c.1873C>A (p.Leu625Ile) rs2066990176
NM_001042492.3(NF1):c.1873C>T (p.Leu625Phe)
NM_001042492.3(NF1):c.1877T>C (p.Leu626Pro) rs752591958
NM_001042492.3(NF1):c.1879T>A (p.Phe627Ile) rs2066990341
NM_001042492.3(NF1):c.1885G>C (p.Gly629Arg) rs199474738
NM_001042492.3(NF1):c.1886G>C (p.Gly629Ala)
NM_001042492.3(NF1):c.1886G>T (p.Gly629Val) rs1597710440
NM_001042492.3(NF1):c.1888G>A (p.Val630Ile) rs751795238
NM_001042492.3(NF1):c.1888G>T (p.Val630Leu) rs751795238
NM_001042492.3(NF1):c.1892G>A (p.Gly631Glu) rs876660272
NM_001042492.3(NF1):c.1892G>C (p.Gly631Ala) rs876660272
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.189G>T (p.Lys63Asn)
NM_001042492.3(NF1):c.1903C>T (p.Pro635Ser)
NM_001042492.3(NF1):c.1906T>C (p.Ser636Pro) rs2066991161
NM_001042492.3(NF1):c.1907C>A (p.Ser636Tyr) rs780412565
NM_001042492.3(NF1):c.1907C>T (p.Ser636Phe) rs780412565
NM_001042492.3(NF1):c.1910G>C (p.Ser637Thr) rs749745247
NM_001042492.3(NF1):c.1911T>G (p.Ser637Arg) rs1456848774
NM_001042492.3(NF1):c.1913G>T (p.Gly638Val)
NM_001042492.3(NF1):c.1915A>C (p.Asn639His)
NM_001042492.3(NF1):c.1915A>T (p.Asn639Tyr) rs2144026692
NM_001042492.3(NF1):c.1916A>G (p.Asn639Ser) rs1060500275
NM_001042492.3(NF1):c.1918A>G (p.Thr640Ala) rs2144026733
NM_001042492.3(NF1):c.1919C>A (p.Thr640Asn)
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.1921A>T (p.Ser641Cys) rs769154907
NM_001042492.3(NF1):c.1922G>A (p.Ser641Asn)
NM_001042492.3(NF1):c.1923T>A (p.Ser641Arg) rs1555613576
NM_001042492.3(NF1):c.1927A>G (p.Met643Val)
NM_001042492.3(NF1):c.1929G>A (p.Met643Ile) rs2144026901
NM_001042492.3(NF1):c.1930T>C (p.Ser644Pro)
NM_001042492.3(NF1):c.1930_1935del (p.Ser644_Met645del) rs1373021403
NM_001042492.3(NF1):c.1931C>A (p.Ser644Tyr) rs1174202288
NM_001042492.3(NF1):c.1931C>G (p.Ser644Cys) rs1174202288
NM_001042492.3(NF1):c.1934T>C (p.Met645Thr)
NM_001042492.3(NF1):c.1935G>A (p.Met645Ile) rs1597710605
NM_001042492.3(NF1):c.1936G>C (p.Asp646His) rs142079728
NM_001042492.3(NF1):c.1939C>A (p.His647Asn)
NM_001042492.3(NF1):c.1939C>T (p.His647Tyr) rs776251084
NM_001042492.3(NF1):c.1940A>C (p.His647Pro) rs1170252879
NM_001042492.3(NF1):c.1940A>G (p.His647Arg) rs1170252879
NM_001042492.3(NF1):c.1941T>A (p.His647Gln) rs1397958327
NM_001042492.3(NF1):c.1941T>G (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.1955G>C (p.Arg652Pro) rs587778549
NM_001042492.3(NF1):c.1955G>T (p.Arg652Leu) rs587778549
NM_001042492.3(NF1):c.1957A>G (p.Thr653Ala) rs1597710712
NM_001042492.3(NF1):c.1960C>A (p.Pro654Thr) rs765281937
NM_001042492.3(NF1):c.1960C>G (p.Pro654Ala) rs765281937
NM_001042492.3(NF1):c.1960C>T (p.Pro654Ser) rs765281937
NM_001042492.3(NF1):c.1960_1962del (p.Pro654del) rs2144027388
NM_001042492.3(NF1):c.1961C>T (p.Pro654Leu) rs1597710728
NM_001042492.3(NF1):c.1963G>C (p.Gly655Arg) rs2066993000
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.1967C>A (p.Ala656Asp) rs775414476
NM_001042492.3(NF1):c.1967C>T (p.Ala656Val) rs775414476
NM_001042492.3(NF1):c.1969T>A (p.Ser657Thr) rs1471484159
NM_001042492.3(NF1):c.1969T>G (p.Ser657Ala) rs1471484159
NM_001042492.3(NF1):c.1970C>G (p.Ser657Cys)
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.1988G>A (p.Gly663Glu) rs2066993661
NM_001042492.3(NF1):c.1989G>T (p.Gly663=)
NM_001042492.3(NF1):c.198_200del (p.Asn67del)
NM_001042492.3(NF1):c.1994_2001+7del
NM_001042492.3(NF1):c.1996T>A (p.Ser666Thr)
NM_001042492.3(NF1):c.1996T>C (p.Ser666Pro) rs876659281
NM_001042492.3(NF1):c.1996T>G (p.Ser666Ala) rs876659281
NM_001042492.3(NF1):c.1997C>T (p.Ser666Phe) rs2066993930
NM_001042492.3(NF1):c.1998T>C (p.Ser666=) rs1567846823
NM_001042492.3(NF1):c.2001+3C>G rs876659863
NM_001042492.3(NF1):c.2001+3C>T
NM_001042492.3(NF1):c.2001+4A>G
NM_001042492.3(NF1):c.2001+5G>A
NM_001042492.3(NF1):c.2001+5G>T rs2144028091
NM_001042492.3(NF1):c.2001+6C>T
NM_001042492.3(NF1):c.2001G>A (p.Met667Ile) rs1597710853
NM_001042492.3(NF1):c.2002-4_2002-3del rs786203664
NM_001042492.3(NF1):c.2002-5C>G rs1165625614
NM_001042492.3(NF1):c.2002-7_2002-3del
NM_001042492.3(NF1):c.2002G>A (p.Asp668Asn) rs1445299269
NM_001042492.3(NF1):c.2002G>C (p.Asp668His)
NM_001042492.3(NF1):c.2002G>T (p.Asp668Tyr) rs1445299269
NM_001042492.3(NF1):c.2006G>A (p.Ser669Asn) rs1288056326
NM_001042492.3(NF1):c.2009C>T (p.Ala670Val)
NM_001042492.3(NF1):c.2011G>A (p.Ala671Thr)
NM_001042492.3(NF1):c.2011G>T (p.Ala671Ser) rs2151425535
NM_001042492.3(NF1):c.2012C>G (p.Ala671Gly) rs760900648
NM_001042492.3(NF1):c.2014G>A (p.Gly672Arg) rs786202632
NM_001042492.3(NF1):c.2015G>A (p.Gly672Glu)
NM_001042492.3(NF1):c.2015G>T (p.Gly672Val) rs371817372
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.2022C>G (p.Ser674Arg) rs2230851
NM_001042492.3(NF1):c.2023G>C (p.Gly675Arg) rs779546178
NM_001042492.3(NF1):c.2026A>C (p.Thr676Pro) rs2067015355
NM_001042492.3(NF1):c.2027C>A (p.Thr676Asn)
NM_001042492.3(NF1):c.2027C>T (p.Thr676Ile) rs1294581001
NM_001042492.3(NF1):c.2029C>T (p.Pro677Ser)
NM_001042492.3(NF1):c.202A>G (p.Met68Val)
NM_001042492.3(NF1):c.2030C>T (p.Pro677Leu)
NM_001042492.3(NF1):c.2032C>A (p.Pro678Thr) rs758691069
NM_001042492.3(NF1):c.2032C>T (p.Pro678Ser) rs758691069
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.2034_2035delinsAG (p.Ile679Val) rs2067015935
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+3G>C
NM_001042492.3(NF1):c.204+3_204+6del rs1567814632
NM_001042492.3(NF1):c.204+4A>G rs1555604946
NM_001042492.3(NF1):c.204+4del rs1597626163
NM_001042492.3(NF1):c.204+5G>C rs1131691499
NM_001042492.3(NF1):c.204+6T>G rs1555604948
NM_001042492.3(NF1):c.2042G>A (p.Arg681Gln) rs786201768
NM_001042492.3(NF1):c.2042G>T (p.Arg681Leu) rs786201768
NM_001042492.3(NF1):c.2044C>A (p.Gln682Lys)
NM_001042492.3(NF1):c.2044C>G (p.Gln682Glu)
NM_001042492.3(NF1):c.2047G>A (p.Ala683Thr) rs2151425636
NM_001042492.3(NF1):c.2048C>T (p.Ala683Val) rs1284070052
NM_001042492.3(NF1):c.204G>A (p.Met68Ile) rs1441153485
NM_001042492.3(NF1):c.205-11_205-6delinsGGAAAA rs2065715987
NM_001042492.3(NF1):c.205-18_205-15dup
NM_001042492.3(NF1):c.205-9_205-8del rs2143645174
NM_001042492.3(NF1):c.2050C>G (p.Gln684Glu) rs2067016517
NM_001042492.3(NF1):c.2051A>C (p.Gln684Pro) rs201076784
NM_001042492.3(NF1):c.2054C>A (p.Thr685Asn) rs876658190
NM_001042492.3(NF1):c.2059C>G (p.Leu687Val) rs1597712422
NM_001042492.3(NF1):c.205A>G (p.Arg69Gly)
NM_001042492.3(NF1):c.2060T>A (p.Leu687Gln)
NM_001042492.3(NF1):c.2062G>C (p.Glu688Gln) rs1555613784
NM_001042492.3(NF1):c.2064A>T (p.Glu688Asp) rs1354039315
NM_001042492.3(NF1):c.2068G>A (p.Ala690Thr)
NM_001042492.3(NF1):c.2068G>T (p.Ala690Ser)
NM_001042492.3(NF1):c.2069C>T (p.Ala690Val) rs2067016932
NM_001042492.3(NF1):c.206G>T (p.Arg69Ile) rs1216707810
NM_001042492.3(NF1):c.2072T>C (p.Leu691Pro) rs1131691132
NM_001042492.3(NF1):c.2072delinsGGGC (p.Leu691delinsArgAla) rs2067017033
NM_001042492.3(NF1):c.2075A>T (p.Tyr692Phe) rs1555613792
NM_001042492.3(NF1):c.2075_2080dup (p.Tyr692_Met693dup) rs2067017065
NM_001042492.3(NF1):c.2077A>C (p.Met693Leu) rs1555613794
NM_001042492.3(NF1):c.2077A>G (p.Met693Val) rs1555613794
NM_001042492.3(NF1):c.2078T>C (p.Met693Thr) rs2067017258
NM_001042492.3(NF1):c.2079G>A (p.Met693Ile)
NM_001042492.3(NF1):c.2080T>C (p.Phe694Leu) rs1597712476
NM_001042492.3(NF1):c.2089A>G (p.Asn697Asp) rs2151425757
NM_001042492.3(NF1):c.2092C>A (p.Pro698Thr)
NM_001042492.3(NF1):c.2092C>G (p.Pro698Ala) rs1182909595
NM_001042492.3(NF1):c.2095G>C (p.Asp699His)
NM_001042492.3(NF1):c.2098A>G (p.Thr700Ala) rs1555613801
NM_001042492.3(NF1):c.2099C>G (p.Thr700Ser) rs1446159048
NM_001042492.3(NF1):c.2099C>T (p.Thr700Ile)
NM_001042492.3(NF1):c.2101G>A (p.Glu701Lys) rs1597712510
NM_001042492.3(NF1):c.2102A>C (p.Glu701Ala)
NM_001042492.3(NF1):c.2105C>T (p.Ala702Val) rs2067017751
NM_001042492.3(NF1):c.2107G>A (p.Val703Ile) rs876659251
NM_001042492.3(NF1):c.2110C>G (p.Leu704Val) rs1597712521
NM_001042492.3(NF1):c.2111T>C (p.Leu704Pro)
NM_001042492.3(NF1):c.2113_2121dup (p.Met707_Ser708insValAlaMet)
NM_001042492.3(NF1):c.2116G>A (p.Ala706Thr) rs876658232
NM_001042492.3(NF1):c.2116G>C (p.Ala706Pro)
NM_001042492.3(NF1):c.2116G>T (p.Ala706Ser) rs876658232
NM_001042492.3(NF1):c.2117C>T (p.Ala706Val) rs2151425819
NM_001042492.3(NF1):c.2119A>C (p.Met707Leu)
NM_001042492.3(NF1):c.2119A>G (p.Met707Val) rs2151425829
NM_001042492.3(NF1):c.2120T>C (p.Met707Thr)
NM_001042492.3(NF1):c.2123C>T (p.Ser708Phe) rs1567847493
NM_001042492.3(NF1):c.2126G>A (p.Cys709Tyr) rs864622547
NM_001042492.3(NF1):c.2126G>T (p.Cys709Phe)
NM_001042492.3(NF1):c.2128T>G (p.Phe710Val)
NM_001042492.3(NF1):c.2128_2142del (p.Phe710_Cys714del)
NM_001042492.3(NF1):c.2131C>T (p.Arg711Cys) rs1400902839
NM_001042492.3(NF1):c.2132G>C (p.Arg711Pro) rs1479669686
NM_001042492.3(NF1):c.2132_2134del (p.Arg711del) rs2151425862
NM_001042492.3(NF1):c.2134C>T (p.His712Tyr)
NM_001042492.3(NF1):c.2135A>G (p.His712Arg) rs199474727
NM_001042492.3(NF1):c.2136C>A (p.His712Gln)
NM_001042492.3(NF1):c.2137_2145del (p.Leu713_Glu715del)
NM_001042492.3(NF1):c.2140T>A (p.Cys714Ser) rs2067018640
NM_001042492.3(NF1):c.2141G>T (p.Cys714Phe)
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.2158C>T (p.Arg720Trp) rs759679443
NM_001042492.3(NF1):c.2159G>T (p.Arg720Leu) rs1350468182
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>A (p.Cys721Tyr)
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.2167G>A (p.Val723Met) rs2151425958
NM_001042492.3(NF1):c.2175A>C (p.Glu725Asp)
NM_001042492.3(NF1):c.2176G>T (p.Val726Leu) rs2067019399
NM_001042492.3(NF1):c.2177T>C (p.Val726Ala) rs2151425984
NM_001042492.3(NF1):c.2180C>T (p.Ser727Leu) rs2151425993
NM_001042492.3(NF1):c.2186A>C (p.His729Pro)
NM_001042492.3(NF1):c.2186A>T (p.His729Leu)
NM_001042492.3(NF1):c.2188A>C (p.Asn730His) rs758893131
NM_001042492.3(NF1):c.2190C>A (p.Asn730Lys) rs1176754107
NM_001042492.3(NF1):c.2196G>T (p.Leu732Phe) rs2067019832
NM_001042492.3(NF1):c.2198C>A (p.Pro733His)
NM_001042492.3(NF1):c.2198C>T (p.Pro733Leu)
NM_001042492.3(NF1):c.219A>T (p.Glu73Asp) rs1567816022
NM_001042492.3(NF1):c.2201_2215del (p.Asn734_Phe738del)
NM_001042492.3(NF1):c.2203T>C (p.Tyr735His) rs1555613827
NM_001042492.3(NF1):c.2204A>C (p.Tyr735Ser)
NM_001042492.3(NF1):c.2204A>G (p.Tyr735Cys)
NM_001042492.3(NF1):c.2206A>C (p.Asn736His) rs1567847621
NM_001042492.3(NF1):c.2207A>G (p.Asn736Ser)
NM_001042492.3(NF1):c.220G>C (p.Ala74Pro)
NM_001042492.3(NF1):c.220G>T (p.Ala74Ser) rs2065716371
NM_001042492.3(NF1):c.2210C>G (p.Thr737Arg)
NM_001042492.3(NF1):c.2210C>T (p.Thr737Ile)
NM_001042492.3(NF1):c.2212T>A (p.Phe738Ile)
NM_001042492.3(NF1):c.2212T>C (p.Phe738Leu) rs2151426076
NM_001042492.3(NF1):c.2215A>G (p.Met739Val)
NM_001042492.3(NF1):c.2219A>C (p.Glu740Ala)
NM_001042492.3(NF1):c.221C>T (p.Ala74Val) rs199474726
NM_001042492.3(NF1):c.2220G>C (p.Glu740Asp)
NM_001042492.3(NF1):c.2220G>T (p.Glu740Asp) rs2067020397
NM_001042492.3(NF1):c.2221T>A (p.Phe741Ile) rs533819802
NM_001042492.3(NF1):c.2230G>A (p.Val744Ile) rs786201833
NM_001042492.3(NF1):c.2230G>C (p.Val744Leu) rs786201833
NM_001042492.3(NF1):c.2233A>G (p.Ser745Gly) rs786201865
NM_001042492.3(NF1):c.2236A>G (p.Asn746Asp) rs2151426135
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.2240T>C (p.Met747Thr) rs2151426144
NM_001042492.3(NF1):c.2240T>G (p.Met747Arg) rs2151426144
NM_001042492.3(NF1):c.2241G>A (p.Met747Ile) rs1597712751
NM_001042492.3(NF1):c.2244G>A (p.Met748Ile) rs786202478
NM_001042492.3(NF1):c.2248A>T (p.Thr750Ser)
NM_001042492.3(NF1):c.2249C>T (p.Thr750Ile)
NM_001042492.3(NF1):c.2249_2251+4dup rs2067021029
NM_001042492.3(NF1):c.224C>G (p.Ala75Gly) rs2065716538
NM_001042492.3(NF1):c.2250A>G (p.Thr750=) rs876659061
NM_001042492.3(NF1):c.2251+11A>G
NM_001042492.3(NF1):c.2251+3A>G
NM_001042492.3(NF1):c.2251+4A>T rs2067021300
NM_001042492.3(NF1):c.2251+5A>T rs786201934
NM_001042492.3(NF1):c.2251+6T>A rs2067021412
NM_001042492.3(NF1):c.2252-14_2252-6del
NM_001042492.3(NF1):c.2252-9T>G rs1555613907
NM_001042492.3(NF1):c.2254A>G (p.Arg752Gly) rs2067030463
NM_001042492.3(NF1):c.2255G>A (p.Arg752Lys) rs2151426839
NM_001042492.3(NF1):c.2255G>C (p.Arg752Thr)
NM_001042492.3(NF1):c.2256A>T (p.Arg752Ser) rs2067030522
NM_001042492.3(NF1):c.2258C>A (p.Ala753Glu)
NM_001042492.3(NF1):c.2258C>T (p.Ala753Val)
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.2266C>G (p.Gln756Glu) rs1567847905
NM_001042492.3(NF1):c.2267A>C (p.Gln756Pro)
NM_001042492.3(NF1):c.2267A>G (p.Gln756Arg) rs1222770265
NM_001042492.3(NF1):c.2269A>G (p.Lys757Glu)
NM_001042492.3(NF1):c.2271A>T (p.Lys757Asn) rs1555613916
NM_001042492.3(NF1):c.2273G>C (p.Arg758Thr) rs2067030950
NM_001042492.3(NF1):c.2274A>T (p.Arg758Ser) rs1597713310
NM_001042492.3(NF1):c.2275G>C (p.Val759Leu)
NM_001042492.3(NF1):c.2275G>T (p.Val759Leu) rs978948341
NM_001042492.3(NF1):c.2276T>C (p.Val759Ala) rs2067031096
NM_001042492.3(NF1):c.2276T>G (p.Val759Gly)
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.2281G>C (p.Ala761Pro) rs786202504
NM_001042492.3(NF1):c.2287C>G (p.Leu763Val) rs1597713340
NM_001042492.3(NF1):c.2290A>T (p.Arg764Trp) rs2151426915
NM_001042492.3(NF1):c.2291G>A (p.Arg764Lys) rs1170184937
NM_001042492.3(NF1):c.2293C>G (p.Arg765Gly) rs1383770460
NM_001042492.3(NF1):c.2294G>T (p.Arg765Leu) rs199474777
NM_001042492.3(NF1):c.2297T>A (p.Ile766Asn)
NM_001042492.3(NF1):c.2297T>C (p.Ile766Thr)
NM_001042492.3(NF1):c.2297T>G (p.Ile766Ser) rs863224657
NM_001042492.3(NF1):c.2301G>T (p.Glu767Asp) rs746127097
NM_001042492.3(NF1):c.2303A>T (p.His768Leu) rs2067031890
NM_001042492.3(NF1):c.2304T>G (p.His768Gln) rs1597713390
NM_001042492.3(NF1):c.2305C>T (p.Pro769Ser) rs2067031963
NM_001042492.3(NF1):c.2306C>G (p.Pro769Arg) rs786203543
NM_001042492.3(NF1):c.2308A>T (p.Thr770Ser)
NM_001042492.3(NF1):c.230A>C (p.Lys77Thr) rs2065716657
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.2320A>T (p.Thr774Ser) rs2151427000
NM_001042492.3(NF1):c.2321C>T (p.Thr774Ile) rs917302286
NM_001042492.3(NF1):c.2325+3A>T
NM_001042492.3(NF1):c.2325+4T>C rs1555613934
NM_001042492.3(NF1):c.2325+5G>T rs1597713425
NM_001042492.3(NF1):c.2325+6C>A rs1567847979
NM_001042492.3(NF1):c.2325+6C>T rs1567847979
NM_001042492.3(NF1):c.2326-3T>G rs876658946
NM_001042492.3(NF1):c.2326-5T>C rs1131691086
NM_001042492.3(NF1):c.2326-5T>G
NM_001042492.3(NF1):c.2326G>A (p.Ala776Thr) rs199474771
NM_001042492.3(NF1):c.2326G>T (p.Ala776Ser) rs199474771
NM_001042492.3(NF1):c.2327C>A (p.Ala776Asp) rs2067037211
NM_001042492.3(NF1):c.232_234del (p.Asn78del) rs1555605367
NM_001042492.3(NF1):c.2331_2337delinsCAAAATGGGA (p.Trp777_Asp779delinsCysLysMetGly)
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.2342A>C (p.His781Pro) rs199474763
NM_001042492.3(NF1):c.2342A>G (p.His781Arg) rs199474763
NM_001042492.3(NF1):c.2344G>A (p.Ala782Thr) rs1352143970
NM_001042492.3(NF1):c.2344G>T (p.Ala782Ser) rs1352143970
NM_001042492.3(NF1):c.2345C>A (p.Ala782Glu)
NM_001042492.3(NF1):c.2347A>G (p.Lys783Glu)
NM_001042492.3(NF1):c.234T>A (p.Asn78Lys) rs876658354
NM_001042492.3(NF1):c.2351G>C (p.Trp784Ser) rs2067038047
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.2356C>G (p.Gln786Glu)
NM_001042492.3(NF1):c.2357A>G (p.Gln786Arg)
NM_001042492.3(NF1):c.2359G>A (p.Ala787Thr) rs2067038399
NM_001042492.3(NF1):c.235T>G (p.Leu79Val) rs764855221
NM_001042492.3(NF1):c.2360C>A (p.Ala787Glu)
NM_001042492.3(NF1):c.2360CAA[1] (p.Thr788del)
NM_001042492.3(NF1):c.2371A>C (p.Ile791Leu)
NM_001042492.3(NF1):c.2371A>G (p.Ile791Val) rs2067038542
NM_001042492.3(NF1):c.2374C>T (p.Leu792Phe) rs1555614005
NM_001042492.3(NF1):c.2375T>C (p.Leu792Pro) rs1597713777
NM_001042492.3(NF1):c.2377A>G (p.Asn793Asp) rs2067038668
NM_001042492.3(NF1):c.237A>T (p.Leu79Phe) rs752208826
NM_001042492.3(NF1):c.2380T>A (p.Tyr794Asn)
NM_001042492.3(NF1):c.2383C>A (p.Pro795Thr)
NM_001042492.3(NF1):c.2384C>T (p.Pro795Leu)
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>C (p.Lys798Thr) rs745498566
NM_001042492.3(NF1):c.2393A>G (p.Lys798Arg)
NM_001042492.3(NF1):c.2395A>G (p.Met799Val) rs1060500317
NM_001042492.3(NF1):c.2395A>T (p.Met799Leu) rs1060500317
NM_001042492.3(NF1):c.2396T>C (p.Met799Thr) rs2067039365
NM_001042492.3(NF1):c.239A>C (p.Tyr80Ser) rs4795581
NM_001042492.3(NF1):c.239A>G (p.Tyr80Cys) rs4795581
NM_001042492.3(NF1):c.239A>T (p.Tyr80Phe) rs4795581
NM_001042492.3(NF1):c.2405G>A (p.Gly802Asp) rs752404130
NM_001042492.3(NF1):c.2406C>T (p.Gly802=) rs2151427624
NM_001042492.3(NF1):c.2407C>G (p.Gln803Glu)
NM_001042492.3(NF1):c.2408A>C (p.Gln803Pro)
NM_001042492.3(NF1):c.2408A>G (p.Gln803Arg) rs786202976
NM_001042492.3(NF1):c.2409+15T>C rs2067039946
NM_001042492.3(NF1):c.2409+3A>G
NM_001042492.3(NF1):c.2409+4A>G rs536864173
NM_001042492.3(NF1):c.2409+4del
NM_001042492.3(NF1):c.2409+5G>C rs763688567
NM_001042492.3(NF1):c.2409G>A (p.Gln803=)
NM_001042492.3(NF1):c.2410-12T>C rs876657932
NM_001042492.3(NF1):c.2410-13A>G rs1567848711
NM_001042492.3(NF1):c.2410-3T>C
NM_001042492.3(NF1):c.2410-3T>G rs1450743199
NM_001042492.3(NF1):c.2410-5T>A rs2151428754
NM_001042492.3(NF1):c.2410-9T>G
NM_001042492.3(NF1):c.2410G>C (p.Ala804Pro) rs761109477
NM_001042492.3(NF1):c.2411C>T (p.Ala804Val)
NM_001042492.3(NF1):c.2412T>A (p.Ala804=)
NM_001042492.3(NF1):c.2413G>A (p.Ala805Thr) rs2067064287
NM_001042492.3(NF1):c.2414C>T (p.Ala805Val)
NM_001042492.3(NF1):c.2416G>A (p.Glu806Lys)
NM_001042492.3(NF1):c.241C>A (p.Leu81Ile) rs587782772
NM_001042492.3(NF1):c.241C>T (p.Leu81Phe)
NM_001042492.3(NF1):c.2420G>A (p.Ser807Asn) rs1597715090
NM_001042492.3(NF1):c.2421C>G (p.Ser807Arg)
NM_001042492.3(NF1):c.2422C>T (p.Leu808Phe) rs2067064463
NM_001042492.3(NF1):c.2426A>C (p.His809Pro) rs2151428826
NM_001042492.3(NF1):c.2428A>G (p.Lys810Glu) rs2151428832
NM_001042492.3(NF1):c.242T>C (p.Leu81Pro) rs2143646000
NM_001042492.3(NF1):c.2431A>G (p.Thr811Ala)
NM_001042492.3(NF1):c.2434A>G (p.Ile812Val) rs587781899
NM_001042492.3(NF1):c.2437G>A (p.Val813Ile) rs878853876
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.2441A>T (p.Lys814Met) 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.2445G>C (p.Arg815Ser)
NM_001042492.3(NF1):c.2446C>G (p.Arg816Gly)
NM_001042492.3(NF1):c.2447G>C (p.Arg816Pro) rs762709897
NM_001042492.3(NF1):c.2449A>G (p.Met817Val) rs2151428887
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>C (p.His819Pro) rs786202297
NM_001042492.3(NF1):c.2456A>G (p.His819Arg) rs786202297
NM_001042492.3(NF1):c.245C>T (p.Ser82Phe) rs199474729
NM_001042492.3(NF1):c.2462G>A (p.Ser821Asn) rs1303972238
NM_001042492.3(NF1):c.2462G>T (p.Ser821Ile) 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.2468G>A (p.Gly823Glu) rs1060500267
NM_001042492.3(NF1):c.2468G>T (p.Gly823Val) rs1060500267
NM_001042492.3(NF1):c.2470G>A (p.Gly824Arg) rs2067065609
NM_001042492.3(NF1):c.2471G>A (p.Gly824Glu) rs2067065647
NM_001042492.3(NF1):c.2471G>T (p.Gly824Val) rs2067065647
NM_001042492.3(NF1):c.2473T>G (p.Ser825Ala)
NM_001042492.3(NF1):c.2474C>G (p.Ser825Cys) rs1060500314
NM_001042492.3(NF1):c.2476A>G (p.Ile826Val) rs767069721
NM_001042492.3(NF1):c.2477T>C (p.Ile826Thr)
NM_001042492.3(NF1):c.2479G>A (p.Asp827Asn) rs1597715215
NM_001042492.3(NF1):c.247C>A (p.Gln83Lys)
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>G (p.Ser829Cys)
NM_001042492.3(NF1):c.2486C>T (p.Ser829Phe) rs1567848794
NM_001042492.3(NF1):c.2488G>C (p.Asp830His) rs2151428966
NM_001042492.3(NF1):c.248A>G (p.Gln83Arg) rs1060500360
NM_001042492.3(NF1):c.2491A>G (p.Thr831Ala) rs1555614204
NM_001042492.3(NF1):c.2492C>T (p.Thr831Ile)
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.2497T>C (p.Ser833Pro)
NM_001042492.3(NF1):c.2498C>A (p.Ser833Tyr)
NM_001042492.3(NF1):c.2498C>T (p.Ser833Phe) rs2067066207
NM_001042492.3(NF1):c.249G>C (p.Gln83His)
NM_001042492.3(NF1):c.2500C>G (p.Leu834Val)
NM_001042492.3(NF1):c.250T>G (p.Leu84Val)
NM_001042492.3(NF1):c.2512A>G (p.Ile838Val) rs1555614212
NM_001042492.3(NF1):c.2512A>T (p.Ile838Phe) rs1555614212
NM_001042492.3(NF1):c.2513T>C (p.Ile838Thr) rs1484277979
NM_001042492.3(NF1):c.2514C>G (p.Ile838Met) rs863224352
NM_001042492.3(NF1):c.2516A>T (p.Asn839Ile) rs1567848834
NM_001042492.3(NF1):c.2517C>A (p.Asn839Lys) rs876659543
NM_001042492.3(NF1):c.2517C>G (p.Asn839Lys)
NM_001042492.3(NF1):c.2518A>C (p.Met840Leu) rs779931789
NM_001042492.3(NF1):c.2518A>G (p.Met840Val) rs779931789
NM_001042492.3(NF1):c.2520G>A (p.Met840Ile)
NM_001042492.3(NF1):c.2521A>G (p.Thr841Ala)
NM_001042492.3(NF1):c.2523_2524insAAG (p.Thr841_Gly842insLys) rs1555614222
NM_001042492.3(NF1):c.2524G>A (p.Gly842Ser)
NM_001042492.3(NF1):c.2525G>A (p.Gly842Asp) rs1597715290
NM_001042492.3(NF1):c.2525G>C (p.Gly842Ala)
NM_001042492.3(NF1):c.2525G>T (p.Gly842Val)
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.2535T>G (p.Cys845Trp) rs2151429076
NM_001042492.3(NF1):c.2536G>A (p.Ala846Thr) rs1555614226
NM_001042492.3(NF1):c.2539C>G (p.Leu847Val) rs753552408
NM_001042492.3(NF1):c.2539C>T (p.Leu847Phe) rs753552408
NM_001042492.3(NF1):c.253_261del (p.Ile85_Leu87del) rs2065717507
NM_001042492.3(NF1):c.2548G>A (p.Val850Met) rs2151429112
NM_001042492.3(NF1):c.2549T>C (p.Val850Ala) rs1424956205
NM_001042492.3(NF1):c.2552G>T (p.Cys851Phe) rs2067067965
NM_001042492.3(NF1):c.2554C>T (p.Leu852Phe) rs747579293
NM_001042492.3(NF1):c.2555T>C (p.Leu852Pro)
NM_001042492.3(NF1):c.2555T>G (p.Leu852Arg) rs876659440
NM_001042492.3(NF1):c.2559G>T (p.Gln853His)
NM_001042492.3(NF1):c.2561A>G (p.Gln854Arg) rs2151429134
NM_001042492.3(NF1):c.2564G>A (p.Arg855Lys)
NM_001042492.3(NF1):c.2565A>C (p.Arg855Ser) rs2067068283
NM_001042492.3(NF1):c.2567G>A (p.Ser856Asn) rs2151429147
NM_001042492.3(NF1):c.2567G>C (p.Ser856Thr) rs2151429147
NM_001042492.3(NF1):c.2569A>C (p.Asn857His) rs1060500259
NM_001042492.3(NF1):c.2569A>G (p.Asn857Asp)
NM_001042492.3(NF1):c.256A>C (p.Ile86Leu)
NM_001042492.3(NF1):c.2572T>C (p.Ser858Pro) rs587778550
NM_001042492.3(NF1):c.2573C>T (p.Ser858Phe)
NM_001042492.3(NF1):c.2576G>A (p.Gly859Asp)
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.2585C>T (p.Thr862Ile)
NM_001042492.3(NF1):c.2588A>G (p.Tyr863Cys) rs1344682851
NM_001042492.3(NF1):c.258A>G (p.Ile86Met) rs2143646253
NM_001042492.3(NF1):c.2594C>T (p.Pro865Leu) rs786203084
NM_001042492.3(NF1):c.2596C>T (p.Pro866Ser) rs1555614272
NM_001042492.3(NF1):c.2599A>G (p.Met867Val) rs864622715
NM_001042492.3(NF1):c.259T>G (p.Leu87Val)
NM_001042492.3(NF1):c.2606C>T (p.Pro869Leu) rs878853878
NM_001042492.3(NF1):c.2608G>C (p.Val870Leu)
NM_001042492.3(NF1):c.2608G>T (p.Val870Phe)
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.2618G>T (p.Arg873Leu) rs949092641
NM_001042492.3(NF1):c.261G>C (p.Leu87Phe) rs876658691
NM_001042492.3(NF1):c.2623G>A (p.Gly875Ser) rs754734571
NM_001042492.3(NF1):c.2623G>C (p.Gly875Arg) rs754734571
NM_001042492.3(NF1):c.2623G>T (p.Gly875Cys) rs754734571
NM_001042492.3(NF1):c.2624G>A (p.Gly875Asp)
NM_001042492.3(NF1):c.262G>C (p.Asp88His) rs2065717750
NM_001042492.3(NF1):c.262G>T (p.Asp88Tyr)
NM_001042492.3(NF1):c.2630T>A (p.Met877Lys) rs2151429296
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.2633T>G (p.Ile878Ser)
NM_001042492.3(NF1):c.2635T>G (p.Ser879Ala)
NM_001042492.3(NF1):c.2636C>T (p.Ser879Leu) rs2151429314
NM_001042492.3(NF1):c.2638G>A (p.Val880Met) rs1156571421
NM_001042492.3(NF1):c.263A>G (p.Asp88Gly) rs2143646326
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.2647T>C (p.Ser883Pro) rs2151429342
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.2657A>G (p.Asn886Ser)
NM_001042492.3(NF1):c.2658C>A (p.Asn886Lys)
NM_001042492.3(NF1):c.2658C>G (p.Asn886Lys) rs781549970
NM_001042492.3(NF1):c.265A>G (p.Thr89Ala)
NM_001042492.3(NF1):c.2660C>G (p.Ala887Gly)
NM_001042492.3(NF1):c.2660C>T (p.Ala887Val) rs1567849029
NM_001042492.3(NF1):c.2662G>C (p.Asp888His)
NM_001042492.3(NF1):c.2663A>G (p.Asp888Gly)
NM_001042492.3(NF1):c.2665A>G (p.Thr889Ala) rs1314766383
NM_001042492.3(NF1):c.2666C>A (p.Thr889Lys)
NM_001042492.3(NF1):c.2666C>T (p.Thr889Ile)
NM_001042492.3(NF1):c.2668C>A (p.Pro890Thr) rs771012891
NM_001042492.3(NF1):c.2668C>T (p.Pro890Ser) rs771012891
NM_001042492.3(NF1):c.266C>A (p.Thr89Lys) rs1555605392
NM_001042492.3(NF1):c.2671G>A (p.Val891Ile) rs1060500256
NM_001042492.3(NF1):c.2671G>C (p.Val891Leu) rs1060500256
NM_001042492.3(NF1):c.2674A>C (p.Ser892Arg)
NM_001042492.3(NF1):c.2674A>T (p.Ser892Cys) rs746324091
NM_001042492.3(NF1):c.2677A>C (p.Lys893Gln) rs2151429419
NM_001042492.3(NF1):c.2678A>G (p.Lys893Arg) rs1597715604
NM_001042492.3(NF1):c.2681T>G (p.Phe894Cys)
NM_001042492.3(NF1):c.2683A>G (p.Met895Val) rs876659129
NM_001042492.3(NF1):c.2684T>G (p.Met895Arg) rs1555614301
NM_001042492.3(NF1):c.2685_2686delinsTA (p.Met895_Asp896delinsIleAsn) rs2151429433
NM_001042492.3(NF1):c.2686G>T (p.Asp896Tyr) rs1189816828
NM_001042492.3(NF1):c.268C>A (p.Leu90Met)
NM_001042492.3(NF1):c.2690G>C (p.Arg897Pro) rs863224658
NM_001042492.3(NF1):c.2698T>A (p.Ser900Thr)
NM_001042492.3(NF1):c.2699C>T (p.Ser900Phe)
NM_001042492.3(NF1):c.269T>G (p.Leu90Arg) rs1555605393
NM_001042492.3(NF1):c.2705T>C (p.Met902Thr)
NM_001042492.3(NF1):c.2705T>G (p.Met902Arg) rs1353007349
NM_001042492.3(NF1):c.2706G>A (p.Met902Ile) rs2067071823
NM_001042492.3(NF1):c.2707G>C (p.Val903Leu)
NM_001042492.3(NF1):c.270G>A (p.Leu90=) rs2065717955
NM_001042492.3(NF1):c.270G>C (p.Leu90=) rs2065717955
NM_001042492.3(NF1):c.2711G>A (p.Cys904Tyr)
NM_001042492.3(NF1):c.2711G>C (p.Cys904Ser) rs2151429496
NM_001042492.3(NF1):c.2714A>G (p.Asn905Ser)
NM_001042492.3(NF1):c.2716C>T (p.His906Tyr)
NM_001042492.3(NF1):c.2718T>A (p.His906Gln) rs2067072074
NM_001042492.3(NF1):c.2722A>G (p.Lys908Glu)
NM_001042492.3(NF1):c.2725G>A (p.Val909Met)
NM_001042492.3(NF1):c.2725G>T (p.Val909Leu) rs1567849105
NM_001042492.3(NF1):c.2726T>C (p.Val909Ala)
NM_001042492.3(NF1):c.2727G>A (p.Val909=) rs2151429530
NM_001042492.3(NF1):c.2728G>A (p.Gly910Arg) rs1555614314
NM_001042492.3(NF1):c.2728G>C (p.Gly910Arg)
NM_001042492.3(NF1):c.2729G>A (p.Gly910Glu)
NM_001042492.3(NF1):c.2732T>A (p.Leu911His) rs1555614315
NM_001042492.3(NF1):c.2737A>G (p.Ile913Val)
NM_001042492.3(NF1):c.2739A>G (p.Ile913Met) rs2151429561
NM_001042492.3(NF1):c.2746A>G (p.Asn916Asp) rs2067072617
NM_001042492.3(NF1):c.2747A>T (p.Asn916Ile) rs765043916
NM_001042492.3(NF1):c.274A>G (p.Lys92Glu) rs1555605396
NM_001042492.3(NF1):c.2752A>G (p.Lys918Glu)
NM_001042492.3(NF1):c.2753A>G (p.Lys918Arg)
NM_001042492.3(NF1):c.2755G>A (p.Asp919Asn) rs1597715708
NM_001042492.3(NF1):c.2755G>T (p.Asp919Tyr) 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.2758C>G (p.Leu920Val) rs2151429594
NM_001042492.3(NF1):c.2759T>A (p.Leu920Gln) rs199474775
NM_001042492.3(NF1):c.2759T>C (p.Leu920Pro) rs199474775
NM_001042492.3(NF1):c.275A>G (p.Lys92Arg) rs2065718099
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.2764G>A (p.Gly922Ser) rs1135402831
NM_001042492.3(NF1):c.2765G>C (p.Gly922Ala)
NM_001042492.3(NF1):c.2767C>A (p.Leu923Ile) rs1567849138
NM_001042492.3(NF1):c.2767C>G (p.Leu923Val)
NM_001042492.3(NF1):c.276A>T (p.Lys92Asn) rs1060503900
NM_001042492.3(NF1):c.2772A>C (p.Glu924Asp) rs2151429630
NM_001042492.3(NF1):c.2782G>A (p.Ala928Thr) rs1277935019
NM_001042492.3(NF1):c.2782G>T (p.Ala928Ser)
NM_001042492.3(NF1):c.2783C>T (p.Ala928Val) rs2067073386
NM_001042492.3(NF1):c.2791C>G (p.Pro931Ala) rs764290369
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.2798T>C (p.Leu933Pro) rs1555614342
NM_001042492.3(NF1):c.2800_2802del (p.Phe934del) rs1567849174
NM_001042492.3(NF1):c.2806A>G (p.Lys936Glu) rs1555614345
NM_001042492.3(NF1):c.2810T>G (p.Leu937Trp) rs1567849184
NM_001042492.3(NF1):c.2811GAA[1] (p.Lys938del) rs2151429739
NM_001042492.3(NF1):c.2812A>G (p.Lys938Glu) rs2067074174
NM_001042492.3(NF1):c.2815A>G (p.Asn939Asp)
NM_001042492.3(NF1):c.2817T>A (p.Asn939Lys) rs2151429754
NM_001042492.3(NF1):c.2818A>G (p.Thr940Ala) rs1443857560
NM_001042492.3(NF1):c.281T>C (p.Leu94Pro) rs1597629884
NM_001042492.3(NF1):c.281T>G (p.Leu94Arg) rs1597629884
NM_001042492.3(NF1):c.2821A>T (p.Ile941Phe)
NM_001042492.3(NF1):c.2822T>C (p.Ile941Thr) rs2067074387
NM_001042492.3(NF1):c.2824A>C (p.Ser942Arg) rs2151429775
NM_001042492.3(NF1):c.2825G>C (p.Ser942Thr) rs1555614350
NM_001042492.3(NF1):c.2826C>G (p.Ser942Arg) rs2151429785
NM_001042492.3(NF1):c.2826C>T (p.Ser942=)
NM_001042492.3(NF1):c.2827A>G (p.Lys943Glu) rs1567849199
NM_001042492.3(NF1):c.2831T>A (p.Phe944Tyr)
NM_001042492.3(NF1):c.2837A>G (p.Asp946Gly) rs2067074650
NM_001042492.3(NF1):c.2839T>A (p.Ser947Thr) rs1567849219
NM_001042492.3(NF1):c.2840C>G (p.Ser947Cys) rs878853879
NM_001042492.3(NF1):c.2843A>T (p.Gln948Leu)
NM_001042492.3(NF1):c.2844A>G (p.Gln948=)
NM_001042492.3(NF1):c.2846G>A (p.Gly949Glu)
NM_001042492.3(NF1):c.2848C>G (p.Gln950Glu)
NM_001042492.3(NF1):c.284C>A (p.Ala95Asp)
NM_001042492.3(NF1):c.284C>G (p.Ala95Gly) rs1567816119
NM_001042492.3(NF1):c.284C>T (p.Ala95Val) rs1567816119
NM_001042492.3(NF1):c.2850+17T>A
NM_001042492.3(NF1):c.2850+2T>C rs1597715880
NM_001042492.3(NF1):c.2850+5A>G rs864622633
NM_001042492.3(NF1):c.2850+6G>A rs756650807
NM_001042492.3(NF1):c.2850+6G>C
NM_001042492.3(NF1):c.2850G>T (p.Gln950His)
NM_001042492.3(NF1):c.2851-10C>G rs1555614412
NM_001042492.3(NF1):c.2851-23_2851-7del rs2067081767
NM_001042492.3(NF1):c.2851-3del rs876660379
NM_001042492.3(NF1):c.2851-4T>G
NM_001042492.3(NF1):c.2851G>A (p.Val951Ile) rs1597716277
NM_001042492.3(NF1):c.2852T>C (p.Val951Ala)
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.2869A>G (p.Asn957Asp)
NM_001042492.3(NF1):c.286G>T (p.Gly96Trp) rs1597629902
NM_001042492.3(NF1):c.2870A>G (p.Asn957Ser)
NM_001042492.3(NF1):c.2877A>G (p.Gln959=) rs1567849511
NM_001042492.3(NF1):c.2878T>G (p.Phe960Val)
NM_001042492.3(NF1):c.288+2dup
NM_001042492.3(NF1):c.288+3A>C rs2065718699
NM_001042492.3(NF1):c.288+3A>T rs2065718699
NM_001042492.3(NF1):c.288+4A>C
NM_001042492.3(NF1):c.288+4A>G rs781459468
NM_001042492.3(NF1):c.288+4A>T rs781459468
NM_001042492.3(NF1):c.288+594A>G
NM_001042492.3(NF1):c.288+6T>A
NM_001042492.3(NF1):c.288+9A>G rs1567816141
NM_001042492.3(NF1):c.2882T>A (p.Val961Glu)
NM_001042492.3(NF1):c.2885A>G (p.Glu962Gly) rs876659474
NM_001042492.3(NF1):c.2886_2897del (p.Glu962_Ala966delinsAsp) rs1135402835
NM_001042492.3(NF1):c.2887C>G (p.Gln963Glu)
NM_001042492.3(NF1):c.2888A>C (p.Gln963Pro)
NM_001042492.3(NF1):c.288G>A (p.Gly96=) rs1430988476
NM_001042492.3(NF1):c.289-1G>A
NM_001042492.3(NF1):c.289-22A>C rs2143669668
NM_001042492.3(NF1):c.289-6T>C rs757074803
NM_001042492.3(NF1):c.2890A>C (p.Thr964Pro)
NM_001042492.3(NF1):c.2891_2892delinsAG (p.Thr964Lys) rs2067083355
NM_001042492.3(NF1):c.2894T>A (p.Ile965Lys) rs1555614438
NM_001042492.3(NF1):c.2896G>A (p.Ala966Thr) rs876658849
NM_001042492.3(NF1):c.2896G>C (p.Ala966Pro)
NM_001042492.3(NF1):c.2896G>T (p.Ala966Ser)
NM_001042492.3(NF1):c.2897C>A (p.Ala966Asp)
NM_001042492.3(NF1):c.2897C>G (p.Ala966Gly) rs1567849533
NM_001042492.3(NF1):c.2899A>G (p.Ile967Val) rs876660279
NM_001042492.3(NF1):c.2900T>C (p.Ile967Thr) rs1289091384
NM_001042492.3(NF1):c.2901A>G (p.Ile967Met) rs2151430624
NM_001042492.3(NF1):c.2903T>A (p.Met968Lys) rs199474749
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.2908A>T (p.Asn970Tyr)
NM_001042492.3(NF1):c.2910C>G (p.Asn970Lys)
NM_001042492.3(NF1):c.2914C>A (p.Leu972Ile) rs2067083880
NM_001042492.3(NF1):c.2915T>A (p.Leu972Gln) rs1597716348
NM_001042492.3(NF1):c.2915T>C (p.Leu972Pro) rs1597716348
NM_001042492.3(NF1):c.2917G>A (p.Asp973Asn) rs2151430652
NM_001042492.3(NF1):c.2918A>G (p.Asp973Gly)
NM_001042492.3(NF1):c.291A>G (p.Gln97=) rs1555606044
NM_001042492.3(NF1):c.2921A>G (p.Asn974Ser) rs557875547
NM_001042492.3(NF1):c.2923C>A (p.His975Asn) rs2151430673
NM_001042492.3(NF1):c.2923C>T (p.His975Tyr)
NM_001042492.3(NF1):c.2924A>G (p.His975Arg)
NM_001042492.3(NF1):c.2927C>G (p.Thr976Ser) rs755404523
NM_001042492.3(NF1):c.292C>A (p.Pro98Thr)
NM_001042492.3(NF1):c.2932G>A (p.Gly978Ser) rs1597716367
NM_001042492.3(NF1):c.2932G>T (p.Gly978Cys) rs1597716367
NM_001042492.3(NF1):c.2933G>A (p.Gly978Asp) rs1597716371
NM_001042492.3(NF1):c.2935A>G (p.Ser979Gly) rs2067084249
NM_001042492.3(NF1):c.2936G>A (p.Ser979Asn) rs2151430704
NM_001042492.3(NF1):c.2939C>T (p.Ser980Phe) rs2067084275
NM_001042492.3(NF1):c.293C>A (p.Pro98Gln) rs780979519
NM_001042492.3(NF1):c.293C>G (p.Pro98Arg)
NM_001042492.3(NF1):c.293C>T (p.Pro98Leu)
NM_001042492.3(NF1):c.2941G>C (p.Glu981Gln) rs1555614449
NM_001042492.3(NF1):c.2942A>G (p.Glu981Gly) rs2067084366
NM_001042492.3(NF1):c.2948T>C (p.Leu983Pro)
NM_001042492.3(NF1):c.2951G>A (p.Gly984Glu)
NM_001042492.3(NF1):c.2954A>T (p.Gln985Leu) rs1567849565
NM_001042492.3(NF1):c.2956_2967del (p.Ala986_Glu989del)
NM_001042492.3(NF1):c.2957C>T (p.Ala986Val) rs876659417
NM_001042492.3(NF1):c.295A>C (p.Lys99Gln)
NM_001042492.3(NF1):c.295A>G (p.Lys99Glu)
NM_001042492.3(NF1):c.2960G>A (p.Ser987Asn) rs1060500329
NM_001042492.3(NF1):c.2962A>G (p.Ile988Val) rs587781936
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.2980A>T (p.Asn994Tyr) rs2067085170
NM_001042492.3(NF1):c.2981A>G (p.Asn994Ser) rs2067085209
NM_001042492.3(NF1):c.2984T>C (p.Leu995Pro) rs1597716466
NM_001042492.3(NF1):c.2984T>G (p.Leu995Arg) rs1597716466
NM_001042492.3(NF1):c.2985G>A (p.Leu995=) rs17881467
NM_001042492.3(NF1):c.2986G>T (p.Val996Phe) rs2151430840
NM_001042492.3(NF1):c.2987T>A (p.Val996Asp)
NM_001042492.3(NF1):c.2989A>G (p.Arg997Gly) rs2067085335
NM_001042492.3(NF1):c.2989A>T (p.Arg997Trp) rs2067085335
NM_001042492.3(NF1):c.298G>A (p.Asp100Asn)
NM_001042492.3(NF1):c.2990+3A>T rs1597716487
NM_001042492.3(NF1):c.2992T>A (p.Tyr998Asn)
NM_001042492.3(NF1):c.2992T>C (p.Tyr998His)
NM_001042492.3(NF1):c.2992T>G (p.Tyr998Asp)
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.2998C>G (p.Arg1000Gly)
NM_001042492.3(NF1):c.2999G>C (p.Arg1000Pro) rs753082620
NM_001042492.3(NF1):c.2999G>T (p.Arg1000Leu) rs753082620
NM_001042492.3(NF1):c.3004C>G (p.Leu1002Val) rs2151431496
NM_001042492.3(NF1):c.3008G>A (p.Gly1003Glu) rs2151431510
NM_001042492.3(NF1):c.3014T>C (p.Met1005Thr) rs1555614504
NM_001042492.3(NF1):c.3016G>A (p.Val1006Ile) rs1060500383
NM_001042492.3(NF1):c.3016G>T (p.Val1006Phe) rs1060500383
NM_001042492.3(NF1):c.3017T>C (p.Val1006Ala) rs755636107
NM_001042492.3(NF1):c.3017T>G (p.Val1006Gly)
NM_001042492.3(NF1):c.3019C>T (p.His1007Tyr)
NM_001042492.3(NF1):c.3023C>A (p.Ala1008Glu)
NM_001042492.3(NF1):c.3025A>G (p.Ile1009Val) rs1597716866
NM_001042492.3(NF1):c.3027T>G (p.Ile1009Met) rs2151431556
NM_001042492.3(NF1):c.3028C>A (p.Gln1010Lys)
NM_001042492.3(NF1):c.302C>A (p.Thr101Lys)
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.3038C>G (p.Thr1013Arg) rs786203132
NM_001042492.3(NF1):c.3040A>G (p.Lys1014Glu) rs1135402839
NM_001042492.3(NF1):c.3051A>C (p.Gln1017His) rs201891488
NM_001042492.3(NF1):c.3054A>C (p.Leu1018Phe) rs1237938582
NM_001042492.3(NF1):c.3055G>A (p.Val1019Ile) rs1567849826
NM_001042492.3(NF1):c.3056T>C (p.Val1019Ala) rs1555614520
NM_001042492.3(NF1):c.3059A>C (p.Glu1020Ala)
NM_001042492.3(NF1):c.3061G>A (p.Val1021Ile)
NM_001042492.3(NF1):c.3061G>C (p.Val1021Leu) rs1597716939
NM_001042492.3(NF1):c.3062T>C (p.Val1021Ala)
NM_001042492.3(NF1):c.3064A>G (p.Met1022Val) rs2067092180
NM_001042492.3(NF1):c.3065T>A (p.Met1022Lys)
NM_001042492.3(NF1):c.3065_3073dup (p.Met1022_Ala1024dup) rs1567849843
NM_001042492.3(NF1):c.3069G>A (p.Met1023Ile) rs2151431668
NM_001042492.3(NF1):c.3069G>T (p.Met1023Ile)
NM_001042492.3(NF1):c.306G>A (p.Met102Ile) rs2143670540
NM_001042492.3(NF1):c.3070G>A (p.Ala1024Thr) rs786203657
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.3073A>G (p.Arg1025Gly)
NM_001042492.3(NF1):c.3074G>A (p.Arg1025Lys) rs876659876
NM_001042492.3(NF1):c.3078A>C (p.Arg1026Ser) rs1597716965
NM_001042492.3(NF1):c.3080A>G (p.Asp1027Gly) rs2151431688
NM_001042492.3(NF1):c.3081_3083dup (p.Asp1028_Leu1029insAsp)
NM_001042492.3(NF1):c.3082_3083delinsTT (p.Asp1028Phe)
NM_001042492.3(NF1):c.3083A>G (p.Asp1028Gly)
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.3086T>G (p.Leu1029Arg) rs2067092609
NM_001042492.3(NF1):c.3089C>T (p.Ser1030Leu)
NM_001042492.3(NF1):c.308G>C (p.Arg103Thr)
NM_001042492.3(NF1):c.3095G>C (p.Cys1032Ser) rs2151431724
NM_001042492.3(NF1):c.3097C>G (p.Gln1033Glu)
NM_001042492.3(NF1):c.3099A>G (p.Gln1033=) rs2067092832
NM_001042492.3(NF1):c.309A>T (p.Arg103Ser) rs1225112706
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>C (p.Lys1036Thr) rs1555614540
NM_001042492.3(NF1):c.3107A>G (p.Lys1036Arg) rs1555614540
NM_001042492.3(NF1):c.3112A>T (p.Arg1038Trp) rs1597717017
NM_001042492.3(NF1):c.3113+2T>C rs876658997
NM_001042492.3(NF1):c.3113+4A>C
NM_001042492.3(NF1):c.3113G>A (p.Arg1038Lys)
NM_001042492.3(NF1):c.3113G>T (p.Arg1038Met) rs1060500313
NM_001042492.3(NF1):c.3114-11C>G rs2151432318
NM_001042492.3(NF1):c.3114-3T>C rs773097190
NM_001042492.3(NF1):c.3114-4A>C rs201550230
NM_001042492.3(NF1):c.3114-7T>G rs754931967
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.3117_3128dup (p.Val1042_Glu1043insAspLysMetVal)
NM_001042492.3(NF1):c.3118A>G (p.Lys1040Glu) rs1555614619
NM_001042492.3(NF1):c.3119A>C (p.Lys1040Thr)
NM_001042492.3(NF1):c.3119A>G (p.Lys1040Arg) rs2067101256
NM_001042492.3(NF1):c.3121A>C (p.Met1041Leu)
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.3131A>G (p.Tyr1044Cys) rs747274278
NM_001042492.3(NF1):c.3134T>C (p.Leu1045Pro) rs1567850142
NM_001042492.3(NF1):c.3137C>G (p.Thr1046Arg) rs2151432404
NM_001042492.3(NF1):c.3140A>G (p.Asp1047Gly) rs1555614631
NM_001042492.3(NF1):c.3140A>T (p.Asp1047Val) rs1555614631
NM_001042492.3(NF1):c.3140_3142dup (p.Asp1047_Trp1048insTyr) rs2067101647
NM_001042492.3(NF1):c.3145G>A (p.Val1049Ile) rs1060500343
NM_001042492.3(NF1):c.3145G>T (p.Val1049Phe)
NM_001042492.3(NF1):c.3148A>G (p.Met1050Val) rs2067101757
NM_001042492.3(NF1):c.3149T>A (p.Met1050Lys) rs1597717585
NM_001042492.3(NF1):c.3149T>C (p.Met1050Thr)
NM_001042492.3(NF1):c.3150G>A (p.Met1050Ile) rs1555614639
NM_001042492.3(NF1):c.3151G>A (p.Gly1051Arg)
NM_001042492.3(NF1):c.3154A>G (p.Thr1052Ala) rs1597717598
NM_001042492.3(NF1):c.3155C>T (p.Thr1052Ile) rs2067101916
NM_001042492.3(NF1):c.3157T>C (p.Ser1053Pro)
NM_001042492.3(NF1):c.3162C>G (p.Asn1054Lys)
NM_001042492.3(NF1):c.3163C>G (p.Gln1055Glu) rs866069972
NM_001042492.3(NF1):c.3167C>T (p.Ala1056Val) rs759655189
NM_001042492.3(NF1):c.3169G>A (p.Ala1057Thr) rs1367746167
NM_001042492.3(NF1):c.3169G>T (p.Ala1057Ser) rs1367746167
NM_001042492.3(NF1):c.3170C>A (p.Ala1057Glu) rs2151432494
NM_001042492.3(NF1):c.3171A>G (p.Ala1057=) rs2067102269
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>G (p.Asp1059Gly) rs1597717658
NM_001042492.3(NF1):c.3176A>T (p.Asp1059Val) rs1597717658
NM_001042492.3(NF1):c.3179A>G (p.Asp1060Gly) rs1597717664
NM_001042492.3(NF1):c.3179A>T (p.Asp1060Val) rs1597717664
NM_001042492.3(NF1):c.3180T>G (p.Asp1060Glu) rs1555614646
NM_001042492.3(NF1):c.3182T>C (p.Val1061Ala)
NM_001042492.3(NF1):c.3184A>G (p.Lys1062Glu) rs2151432521
NM_001042492.3(NF1):c.3185A>G (p.Lys1062Arg)
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.3190C>T (p.Leu1064Phe) rs2067102829
NM_001042492.3(NF1):c.3191T>C (p.Leu1064Pro)
NM_001042492.3(NF1):c.3191T>G (p.Leu1064Arg)
NM_001042492.3(NF1):c.3193A>C (p.Thr1065Pro)
NM_001042492.3(NF1):c.3194C>A (p.Thr1065Lys) rs2067102897
NM_001042492.3(NF1):c.3194C>G (p.Thr1065Arg)
NM_001042492.3(NF1):c.3195A>C (p.Thr1065=) rs1555614650
NM_001042492.3(NF1):c.3196A>G (p.Arg1066Gly) rs2067102998
NM_001042492.3(NF1):c.3197+3A>T rs1359512152
NM_001042492.3(NF1):c.3197G>A (p.Arg1066Lys) rs1555614652
NM_001042492.3(NF1):c.3197G>C (p.Arg1066Thr) rs1555614652
NM_001042492.3(NF1):c.3197G>T (p.Arg1066Ile) rs1555614652
NM_001042492.3(NF1):c.3198-312_3198-297del
NM_001042492.3(NF1):c.3198-330A>G
NM_001042492.3(NF1):c.3198-3C>A rs777759972
NM_001042492.3(NF1):c.3198-4_3198-3insAT rs745559136
NM_001042492.3(NF1):c.3198-4_3198-3insTTGT rs745559136
NM_001042492.3(NF1):c.3198-5T>G rs587782639
NM_001042492.3(NF1):c.3198-5_3198-3del rs2067120967
NM_001042492.3(NF1):c.3198-7_3198-4del rs371047262
NM_001042492.3(NF1):c.3198-8_3198-4del rs371047262
NM_001042492.3(NF1):c.3198A>T (p.Arg1066Ser) rs864622469
NM_001042492.3(NF1):c.3199G>A (p.Asp1067Asn)
NM_001042492.3(NF1):c.319A>G (p.Thr107Ala) rs2065792343
NM_001042492.3(NF1):c.3200A>G (p.Asp1067Gly) rs746785904
NM_001042492.3(NF1):c.3204G>C (p.Leu1068Phe) rs1258842007
NM_001042492.3(NF1):c.3209A>G (p.Gln1070Arg) rs2151433679
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.3210_3212dup (p.Ala1071_Ser1072insAla)
NM_001042492.3(NF1):c.3211G>A (p.Ala1071Thr)
NM_001042492.3(NF1):c.3212C>A (p.Ala1071Glu)
NM_001042492.3(NF1):c.3213A>G (p.Ala1071=) rs786202077
NM_001042492.3(NF1):c.3215G>A (p.Ser1072Asn) rs1597718741
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>C (p.Met1073Thr) rs1555614827
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.3223G>T (p.Ala1075Ser) rs1597718763
NM_001042492.3(NF1):c.3223_3225delinsAGG (p.Ala1075Arg)
NM_001042492.3(NF1):c.3226G>A (p.Val1076Ile)
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.3238C>G (p.Leu1080Val) rs1555614832
NM_001042492.3(NF1):c.323T>C (p.Met108Thr) rs780233935
NM_001042492.3(NF1):c.3241G>A (p.Ala1081Thr) rs1555614834
NM_001042492.3(NF1):c.3241G>C (p.Ala1081Pro) rs1555614834
NM_001042492.3(NF1):c.3244G>C (p.Gly1082Arg) rs2067123009
NM_001042492.3(NF1):c.3245G>A (p.Gly1082Asp)
NM_001042492.3(NF1):c.3245G>C (p.Gly1082Ala) rs1555614839
NM_001042492.3(NF1):c.3245_3247del (p.Gly1082_Leu1083delinsVal) rs1597718783
NM_001042492.3(NF1):c.3250C>T (p.Pro1084Ser) rs1555614848
NM_001042492.3(NF1):c.3251C>T (p.Pro1084Leu) rs1164081667
NM_001042492.3(NF1):c.3253C>G (p.Leu1085Val) rs145323424
NM_001042492.3(NF1):c.3254T>C (p.Leu1085Pro)
NM_001042492.3(NF1):c.3254T>G (p.Leu1085Arg) rs1555614849
NM_001042492.3(NF1):c.3256C>A (p.Gln1086Lys)
NM_001042492.3(NF1):c.3257A>G (p.Gln1086Arg)
NM_001042492.3(NF1):c.3264A>C (p.Glu1088Asp)
NM_001042492.3(NF1):c.3265G>A (p.Glu1089Lys) rs9907627
NM_001042492.3(NF1):c.3266A>G (p.Glu1089Gly)
NM_001042492.3(NF1):c.3268G>A (p.Gly1090Arg) rs2151433819
NM_001042492.3(NF1):c.3269G>A (p.Gly1090Glu)
NM_001042492.3(NF1):c.3271G>A (p.Asp1091Asn) rs2151433824
NM_001042492.3(NF1):c.3272A>G (p.Asp1091Gly)
NM_001042492.3(NF1):c.3272A>T (p.Asp1091Val)
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.3275G>A (p.Gly1092Asp) rs1597718838
NM_001042492.3(NF1):c.3275G>C (p.Gly1092Ala)
NM_001042492.3(NF1):c.3278T>C (p.Val1093Ala) rs2067124037
NM_001042492.3(NF1):c.3279G>A (p.Val1093=) rs769134583
NM_001042492.3(NF1):c.3287T>C (p.Met1096Thr) rs863224659
NM_001042492.3(NF1):c.3287_3295del (p.Met1096_Ala1098del)
NM_001042492.3(NF1):c.3289G>A (p.Glu1097Lys) rs1555614865
NM_001042492.3(NF1):c.3290A>G (p.Glu1097Gly)
NM_001042492.3(NF1):c.3292G>A (p.Ala1098Thr)
NM_001042492.3(NF1):c.3293C>T (p.Ala1098Val)
NM_001042492.3(NF1):c.3295A>C (p.Lys1099Gln)
NM_001042492.3(NF1):c.3296A>C (p.Lys1099Thr) rs2151433877
NM_001042492.3(NF1):c.3299C>T (p.Ser1100Leu) rs2067124341
NM_001042492.3(NF1):c.3302A>C (p.Gln1101Pro)
NM_001042492.3(NF1):c.3302A>G (p.Gln1101Arg)
NM_001042492.3(NF1):c.3304T>G (p.Leu1102Val)
NM_001042492.3(NF1):c.3308T>G (p.Phe1103Cys) rs1597718879
NM_001042492.3(NF1):c.3310C>G (p.Leu1104Val) rs140957113
NM_001042492.3(NF1):c.3310C>T (p.Leu1104Phe)
NM_001042492.3(NF1):c.3311T>C (p.Leu1104Pro) rs2151433910
NM_001042492.3(NF1):c.3313A>G (p.Lys1105Glu) rs1555614867
NM_001042492.3(NF1):c.3314A>G (p.Lys1105Arg)
NM_001042492.3(NF1):c.3315-11T>G
NM_001042492.3(NF1):c.3315-34_3315-4del rs2151434319
NM_001042492.3(NF1):c.3315-3C>T rs752318318
NM_001042492.3(NF1):c.3315A>G (p.Lys1105=) rs1555614915
NM_001042492.3(NF1):c.3315A>T (p.Lys1105Asn)
NM_001042492.3(NF1):c.3317A>G (p.Tyr1106Cys) rs1567850987
NM_001042492.3(NF1):c.3328T>A (p.Phe1110Ile) rs2067134298
NM_001042492.3(NF1):c.3328T>C (p.Phe1110Leu) rs2067134298
NM_001042492.3(NF1):c.3328T>G (p.Phe1110Val) rs2067134298
NM_001042492.3(NF1):c.3330T>G (p.Phe1110Leu)
NM_001042492.3(NF1):c.3332T>C (p.Met1111Thr) rs1555614920
NM_001042492.3(NF1):c.3334A>C (p.Asn1112His)
NM_001042492.3(NF1):c.3334A>G (p.Asn1112Asp)
NM_001042492.3(NF1):c.3335A>G (p.Asn1112Ser)
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.3338T>C (p.Leu1113Pro) rs2067134539
NM_001042492.3(NF1):c.333A>C (p.Lys111Asn)
NM_001042492.3(NF1):c.3346G>C (p.Asp1116His) rs1555614932
NM_001042492.3(NF1):c.3347A>C (p.Asp1116Ala) rs1597719439
NM_001042492.3(NF1):c.3349T>G (p.Cys1117Gly)
NM_001042492.3(NF1):c.334C>G (p.Gln112Glu)
NM_001042492.3(NF1):c.3350G>A (p.Cys1117Tyr) rs876660762
NM_001042492.3(NF1):c.3350G>T (p.Cys1117Phe)
NM_001042492.3(NF1):c.3358G>A (p.Val1120Ile) rs200594167
NM_001042492.3(NF1):c.3358G>T (p.Val1120Phe) rs200594167
NM_001042492.3(NF1):c.3359T>A (p.Val1120Asp)
NM_001042492.3(NF1):c.3361G>A (p.Glu1121Lys) rs1567851029
NM_001042492.3(NF1):c.3362A>C (p.Glu1121Ala) rs757222815
NM_001042492.3(NF1):c.3363_3365del (p.Glu1121del) rs2067135101
NM_001042492.3(NF1):c.3365A>G (p.Asp1122Gly) rs1597719461
NM_001042492.3(NF1):c.3366T>G (p.Asp1122Glu)
NM_001042492.3(NF1):c.3368A>G (p.Glu1123Gly) rs1410465727
NM_001042492.3(NF1):c.3369A>T (p.Glu1123Asp) rs2151434565
NM_001042492.3(NF1):c.3371G>T (p.Ser1124Ile) rs374472758
NM_001042492.3(NF1):c.3374C>G (p.Ala1125Gly) rs902739109
NM_001042492.3(NF1):c.337T>A (p.Leu113Met)
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.3383_3384insAACTTTTTG (p.Gly1128_Gly1129insThrPheCys)
NM_001042492.3(NF1):c.3387C>T (p.Gly1129=) rs1369392487
NM_001042492.3(NF1):c.3391A>C (p.Lys1131Gln) rs2067135932
NM_001042492.3(NF1):c.3394C>G (p.Arg1132Gly) rs587781725
NM_001042492.3(NF1):c.3395G>T (p.Arg1132Leu)
NM_001042492.3(NF1):c.3397G>A (p.Gly1133Ser)
NM_001042492.3(NF1):c.339G>C (p.Leu113Phe)
NM_001042492.3(NF1):c.3400A>G (p.Met1134Val) rs1597719532
NM_001042492.3(NF1):c.3402G>A (p.Met1134Ile) rs587782701
NM_001042492.3(NF1):c.3404C>T (p.Ser1135Phe) rs1555614952
NM_001042492.3(NF1):c.3406C>T (p.Arg1136Trp) rs1341314304
NM_001042492.3(NF1):c.3407G>A (p.Arg1136Gln) rs868407539
NM_001042492.3(NF1):c.3407G>C (p.Arg1136Pro) rs868407539
NM_001042492.3(NF1):c.3411G>C (p.Arg1137Ser)
NM_001042492.3(NF1):c.3412C>T (p.Leu1138=) rs1555614958
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>A (p.Ala1139Glu) rs1555614960
NM_001042492.3(NF1):c.3416C>T (p.Ala1139Val)
NM_001042492.3(NF1):c.341T>C (p.Leu114Pro)
NM_001042492.3(NF1):c.3425G>A (p.Arg1142Lys)
NM_001042492.3(NF1):c.3428A>G (p.His1143Arg) rs1555614965
NM_001042492.3(NF1):c.3429C>A (p.His1143Gln) rs2151434709
NM_001042492.3(NF1):c.3430T>C (p.Cys1144Arg) rs2067136902
NM_001042492.3(NF1):c.3431G>C (p.Cys1144Ser)
NM_001042492.3(NF1):c.3433A>G (p.Thr1145Ala) rs1450606511
NM_001042492.3(NF1):c.3437T>A (p.Val1146Asp) rs2067137147
NM_001042492.3(NF1):c.3437T>C (p.Val1146Ala)
NM_001042492.3(NF1):c.3437T>G (p.Val1146Gly)
NM_001042492.3(NF1):c.343C>G (p.Pro115Ala)
NM_001042492.3(NF1):c.3442G>A (p.Ala1148Thr)
NM_001042492.3(NF1):c.3442G>C (p.Ala1148Pro) rs2067137289
NM_001042492.3(NF1):c.3443C>T (p.Ala1148Val)
NM_001042492.3(NF1):c.3445A>T (p.Met1149Leu) rs1187097568
NM_001042492.3(NF1):c.3446T>G (p.Met1149Arg) rs1131691121
NM_001042492.3(NF1):c.3448T>C (p.Ser1150Pro) rs2067137547
NM_001042492.3(NF1):c.3449C>T (p.Ser1150Leu) rs1555614972
NM_001042492.3(NF1):c.3451A>G (p.Asn1151Asp) rs1567851125
NM_001042492.3(NF1):c.3452_3457del (p.Asn1151_Leu1153delinsIle) rs2067137679
NM_001042492.3(NF1):c.3453_3461dup (p.Asn1154_Ala1155insLeuLeuAsn)
NM_001042492.3(NF1):c.3454T>G (p.Leu1152Val) rs771258163
NM_001042492.3(NF1):c.3455T>C (p.Leu1152Ser)
NM_001042492.3(NF1):c.3456A>C (p.Leu1152Phe)
NM_001042492.3(NF1):c.3457C>T (p.Leu1153Phe) rs2151434781
NM_001042492.3(NF1):c.3458T>C (p.Leu1153Pro)
NM_001042492.3(NF1):c.3460A>G (p.Asn1154Asp) rs2067137878
NM_001042492.3(NF1):c.3460A>T (p.Asn1154Tyr)
NM_001042492.3(NF1):c.3461A>C (p.Asn1154Thr)
NM_001042492.3(NF1):c.3462T>A (p.Asn1154Lys) rs2067137994
NM_001042492.3(NF1):c.3463G>A (p.Ala1155Thr)
NM_001042492.3(NF1):c.3464C>G (p.Ala1155Gly) rs1597719654
NM_001042492.3(NF1):c.3464C>T (p.Ala1155Val)
NM_001042492.3(NF1):c.3466A>C (p.Asn1156His)
NM_001042492.3(NF1):c.3467A>G (p.Asn1156Ser) rs199474764
NM_001042492.3(NF1):c.3470T>C (p.Val1157Ala) rs2151434814
NM_001042492.3(NF1):c.3472G>A (p.Asp1158Asn) rs2151434821
NM_001042492.3(NF1):c.3473A>G (p.Asp1158Gly) rs2151434824
NM_001042492.3(NF1):c.3475A>G (p.Ser1159Gly) rs2067138274
NM_001042492.3(NF1):c.3475_3476insCTCACCTATGGA (p.Asp1158_Ser1159insThrHisLeuTrp)
NM_001042492.3(NF1):c.3476G>C (p.Ser1159Thr) rs2151434835
NM_001042492.3(NF1):c.3478G>C (p.Gly1160Arg)
NM_001042492.3(NF1):c.3478G>T (p.Gly1160Cys) rs786202815
NM_001042492.3(NF1):c.3479G>T (p.Gly1160Val)
NM_001042492.3(NF1):c.3484A>C (p.Met1162Leu)
NM_001042492.3(NF1):c.3484A>T (p.Met1162Leu) rs773968270
NM_001042492.3(NF1):c.3486G>T (p.Met1162Ile)
NM_001042492.3(NF1):c.3487C>A (p.His1163Asn)
NM_001042492.3(NF1):c.348A>C (p.Glu116Asp) rs1231174547
NM_001042492.3(NF1):c.3494T>C (p.Ile1165Thr) rs786204211
NM_001042492.3(NF1):c.3495A>G (p.Ile1165Met) rs876660814
NM_001042492.3(NF1):c.3496+3G>A rs1060500287
NM_001042492.3(NF1):c.3496+3G>C
NM_001042492.3(NF1):c.3496+4A>G
NM_001042492.3(NF1):c.3496+53T>C rs1555614994
NM_001042492.3(NF1):c.3496+5G>A rs786202564
NM_001042492.3(NF1):c.3496+5G>C rs786202564
NM_001042492.3(NF1):c.3496+5G>T
NM_001042492.3(NF1):c.3496+6A>C rs2151434908
NM_001042492.3(NF1):c.3497-12T>A rs753605564
NM_001042492.3(NF1):c.3497-16T>A
NM_001042492.3(NF1):c.3497-2A>G
NM_001042492.3(NF1):c.3497-3T>C rs2067140936
NM_001042492.3(NF1):c.3497-5A>G rs876660405
NM_001042492.3(NF1):c.3497G>T (p.Gly1166Val)
NM_001042492.3(NF1):c.349A>G (p.Ile117Val) rs1597635759
NM_001042492.3(NF1):c.3501A>C (p.Leu1167Phe) rs1555615008
NM_001042492.3(NF1):c.3503G>T (p.Gly1168Val)
NM_001042492.3(NF1):c.3505T>C (p.Tyr1169His) rs2067141225
NM_001042492.3(NF1):c.3506A>C (p.Tyr1169Ser) rs1555615014
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.3512A>G (p.Lys1171Arg)
NM_001042492.3(NF1):c.3515A>G (p.Asp1172Gly) rs1555615017
NM_001042492.3(NF1):c.3516T>A (p.Asp1172Glu) rs2067141430
NM_001042492.3(NF1):c.3517C>T (p.Leu1173Phe) rs1060500375
NM_001042492.3(NF1):c.3518T>C (p.Leu1173Pro) rs2151435305
NM_001042492.3(NF1):c.3521A>G (p.Gln1174Arg) rs1135402843
NM_001042492.3(NF1):c.3522G>T (p.Gln1174His) rs2151435319
NM_001042492.3(NF1):c.3524C>T (p.Thr1175Ile) rs1555615024
NM_001042492.3(NF1):c.3526A>G (p.Arg1176Gly) rs2067141694
NM_001042492.3(NF1):c.3528A>C (p.Arg1176Ser)
NM_001042492.3(NF1):c.3530C>A (p.Ala1177Asp)
NM_001042492.3(NF1):c.3530C>T (p.Ala1177Val) rs1597719920
NM_001042492.3(NF1):c.3532A>T (p.Thr1178Ser) rs2067141791
NM_001042492.3(NF1):c.3533C>A (p.Thr1178Lys) rs1555615025
NM_001042492.3(NF1):c.3533C>G (p.Thr1178Arg) rs1555615025
NM_001042492.3(NF1):c.3533_3538del (p.Thr1178_Phe1179del)
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.3540G>A (p.Met1180Ile)
NM_001042492.3(NF1):c.3543A>C (p.Glu1181Asp)
NM_001042492.3(NF1):c.3545T>C (p.Val1182Ala) rs2067142076
NM_001042492.3(NF1):c.3545T>G (p.Val1182Gly)
NM_001042492.3(NF1):c.3548T>C (p.Leu1183Pro) rs1555615028
NM_001042492.3(NF1):c.3550A>C (p.Thr1184Pro) rs2151435398
NM_001042492.3(NF1):c.3550A>G (p.Thr1184Ala) rs2151435398
NM_001042492.3(NF1):c.3551C>G (p.Thr1184Arg) rs752850053
NM_001042492.3(NF1):c.3553A>G (p.Lys1185Glu) rs2151435410
NM_001042492.3(NF1):c.3556A>T (p.Ile1186Phe)
NM_001042492.3(NF1):c.3557T>C (p.Ile1186Thr)
NM_001042492.3(NF1):c.3559C>G (p.Leu1187Val)
NM_001042492.3(NF1):c.3559C>T (p.Leu1187Phe) rs2067142260
NM_001042492.3(NF1):c.355C>A (p.His119Asn) rs1555606066
NM_001042492.3(NF1):c.355C>T (p.His119Tyr) rs1555606066
NM_001042492.3(NF1):c.3563A>G (p.Gln1188Arg) rs758419553
NM_001042492.3(NF1):c.3564A>T (p.Gln1188His)
NM_001042492.3(NF1):c.3565C>G (p.Gln1189Glu) rs878853884
NM_001042492.3(NF1):c.3567A>G (p.Gln1189=)
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.3571A>T (p.Thr1191Ser) rs1555615033
NM_001042492.3(NF1):c.3578T>C (p.Phe1193Ser) rs199474780
NM_001042492.3(NF1):c.3581A>G (p.Asp1194Gly)
NM_001042492.3(NF1):c.3582C>G (p.Asp1194Glu) rs1555615036
NM_001042492.3(NF1):c.3584C>T (p.Thr1195Ile)
NM_001042492.3(NF1):c.3589G>A (p.Ala1197Thr) rs2151435523
NM_001042492.3(NF1):c.3590C>T (p.Ala1197Val) rs370820478
NM_001042492.3(NF1):c.3592G>C (p.Glu1198Gln)
NM_001042492.3(NF1):c.3593A>G (p.Glu1198Gly)
NM_001042492.3(NF1):c.3595A>G (p.Thr1199Ala) rs1453504440
NM_001042492.3(NF1):c.3596C>G (p.Thr1199Arg) rs1555615047
NM_001042492.3(NF1):c.3596C>T (p.Thr1199Ile) rs1555615047
NM_001042492.3(NF1):c.3598G>A (p.Val1200Ile) rs1597720021
NM_001042492.3(NF1):c.3598G>T (p.Val1200Leu) rs1597720021
NM_001042492.3(NF1):c.3599T>C (p.Val1200Ala)
NM_001042492.3(NF1):c.359T>C (p.Phe120Ser)
NM_001042492.3(NF1):c.3602T>C (p.Leu1201Ser)
NM_001042492.3(NF1):c.3607G>A (p.Asp1203Asn) rs1555615051
NM_001042492.3(NF1):c.3608A>T (p.Asp1203Val)
NM_001042492.3(NF1):c.360T>G (p.Phe120Leu)
NM_001042492.3(NF1):c.3611G>A (p.Arg1204Gln) rs1057521848
NM_001042492.3(NF1):c.3613T>G (p.Phe1205Val)
NM_001042492.3(NF1):c.3614T>G (p.Phe1205Cys) rs1597720068
NM_001042492.3(NF1):c.3617A>G (p.Glu1206Gly) rs1597720070
NM_001042492.3(NF1):c.3623T>C (p.Leu1208Ser) rs1060500374
NM_001042492.3(NF1):c.3625G>C (p.Val1209Leu) rs1458579232
NM_001042492.3(NF1):c.3625G>T (p.Val1209Leu) rs1458579232
NM_001042492.3(NF1):c.3632T>C (p.Leu1211Pro)
NM_001042492.3(NF1):c.3632T>G (p.Leu1211Arg) rs1135402845
NM_001042492.3(NF1):c.3634G>A (p.Val1212Ile) rs1597720116
NM_001042492.3(NF1):c.3635T>A (p.Val1212Asp)
NM_001042492.3(NF1):c.3637A>T (p.Thr1213Ser)
NM_001042492.3(NF1):c.3643A>G (p.Met1215Val) rs2067143915
NM_001042492.3(NF1):c.3644T>A (p.Met1215Lys)
NM_001042492.3(NF1):c.3644T>C (p.Met1215Thr) rs1555615071
NM_001042492.3(NF1):c.3646G>T (p.Gly1216Cys) rs1567851424
NM_001042492.3(NF1):c.3647G>A (p.Gly1216Asp)
NM_001042492.3(NF1):c.364C>T (p.His122Tyr) rs587782107
NM_001042492.3(NF1):c.3653A>C (p.Gln1218Pro) rs876659541
NM_001042492.3(NF1):c.3653A>G (p.Gln1218Arg) rs876659541
NM_001042492.3(NF1):c.3655G>C (p.Gly1219Arg) rs2067144197
NM_001042492.3(NF1):c.3656_3658del (p.Gly1219del) rs1555615077
NM_001042492.3(NF1):c.3658G>A (p.Glu1220Lys) rs1597720155
NM_001042492.3(NF1):c.3658G>C (p.Glu1220Gln) rs1597720155
NM_001042492.3(NF1):c.3659A>C (p.Glu1220Ala) rs2067144350
NM_001042492.3(NF1):c.3660A>T (p.Glu1220Asp) rs1597720161
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.3665C>G (p.Pro1222Arg)
NM_001042492.3(NF1):c.3667A>G (p.Ile1223Val) rs1567851470
NM_001042492.3(NF1):c.3668T>C (p.Ile1223Thr)
NM_001042492.3(NF1):c.3668T>G (p.Ile1223Arg) rs1555615091
NM_001042492.3(NF1):c.366C>G (p.His122Gln) rs138952888
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.3674T>C (p.Met1225Thr)
NM_001042492.3(NF1):c.3675G>A (p.Met1225Ile)
NM_001042492.3(NF1):c.3678_3683del (p.Leu1227_Ala1228del) rs2151435745
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>G (p.Asn1229Asp) rs1555615102
NM_001042492.3(NF1):c.3685A>T (p.Asn1229Tyr) rs1555615102
NM_001042492.3(NF1):c.3686A>C (p.Asn1229Thr) rs140523180
NM_001042492.3(NF1):c.3689T>C (p.Val1230Ala) rs587782820
NM_001042492.3(NF1):c.368C>A (p.Thr123Asn) rs878853886
NM_001042492.3(NF1):c.368C>G (p.Thr123Ser)
NM_001042492.3(NF1):c.368C>T (p.Thr123Ile) rs878853886
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.3697T>C (p.Cys1233Arg) rs2151435803
NM_001042492.3(NF1):c.3698G>A (p.Cys1233Tyr)
NM_001042492.3(NF1):c.3698G>C (p.Cys1233Ser) rs2067145365
NM_001042492.3(NF1):c.3701C>T (p.Ser1234Phe)
NM_001042492.3(NF1):c.3706T>C (p.Trp1236Arg) rs1555615111
NM_001042492.3(NF1):c.3708+3A>G rs1555615114
NM_001042492.3(NF1):c.3708+3_3708+6del rs2151435840
NM_001042492.3(NF1):c.3708+4A>G rs2067145705
NM_001042492.3(NF1):c.3708+5G>C rs1597720280
NM_001042492.3(NF1):c.3709-3C>A rs1555615430
NM_001042492.3(NF1):c.3709-3C>T rs1555615430
NM_001042492.3(NF1):c.3709-5C>T rs1390680821
NM_001042492.3(NF1):c.370T>A (p.Cys124Ser) rs1555606074
NM_001042492.3(NF1):c.3711T>G (p.Asp1237Glu) rs876659917
NM_001042492.3(NF1):c.3712G>A (p.Glu1238Lys)
NM_001042492.3(NF1):c.3712G>C (p.Glu1238Gln) rs1060500346
NM_001042492.3(NF1):c.3713A>C (p.Glu1238Ala) rs2151437710
NM_001042492.3(NF1):c.3714A>T (p.Glu1238Asp)
NM_001042492.3(NF1):c.3718G>C (p.Ala1240Pro)
NM_001042492.3(NF1):c.3718G>T (p.Ala1240Ser) rs2151437719
NM_001042492.3(NF1):c.3719C>T (p.Ala1240Val) rs2067185676
NM_001042492.3(NF1):c.3721C>G (p.Arg1241Gly) rs137854562
NM_001042492.3(NF1):c.3722G>C (p.Arg1241Pro) rs543387071
NM_001042492.3(NF1):c.3725T>C (p.Val1242Ala)
NM_001042492.3(NF1):c.3725T>G (p.Val1242Gly) rs2067185801
NM_001042492.3(NF1):c.3727C>G (p.Leu1243Val)
NM_001042492.3(NF1):c.3733A>C (p.Thr1245Pro)
NM_001042492.3(NF1):c.3733A>G (p.Thr1245Ala) rs786203616
NM_001042492.3(NF1):c.3733A>T (p.Thr1245Ser) rs786203616
NM_001042492.3(NF1):c.3734C>G (p.Thr1245Ser) rs1363534157
NM_001042492.3(NF1):c.3734_3735delinsTC (p.Thr1245Ile) rs2151437761
NM_001042492.3(NF1):c.3736C>G (p.Leu1246Val) rs1567852501
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.373C>T (p.Arg125Cys) rs876659418
NM_001042492.3(NF1):c.373_375del (p.Arg125del) rs2143671923
NM_001042492.3(NF1):c.3740T>G (p.Phe1247Cys)
NM_001042492.3(NF1):c.3743A>G (p.Asp1248Gly) rs2067186495
NM_001042492.3(NF1):c.3745T>C (p.Ser1249Pro)
NM_001042492.3(NF1):c.3746C>G (p.Ser1249Cys)
NM_001042492.3(NF1):c.3748C>A (p.Arg1250=)
NM_001042492.3(NF1):c.3748C>G (p.Arg1250Gly)
NM_001042492.3(NF1):c.3749G>T (p.Arg1250Leu) rs199474765
NM_001042492.3(NF1):c.374G>C (p.Arg125Pro)
NM_001042492.3(NF1):c.374G>T (p.Arg125Leu) rs149003051
NM_001042492.3(NF1):c.3752A>C (p.His1251Pro) rs1567852526
NM_001042492.3(NF1):c.3752A>G (p.His1251Arg) rs1567852526
NM_001042492.3(NF1):c.3753T>A (p.His1251Gln) rs1597722470
NM_001042492.3(NF1):c.3757C>G (p.Leu1253Val) rs2067186931
NM_001042492.3(NF1):c.3757C>T (p.Leu1253Phe) rs2067186931
NM_001042492.3(NF1):c.3759_3767del (p.Tyr1254_Leu1256del) rs1597722477
NM_001042492.3(NF1):c.3760T>C (p.Tyr1254His) rs2067186968
NM_001042492.3(NF1):c.3761A>C (p.Tyr1254Ser)
NM_001042492.3(NF1):c.3763C>G (p.Gln1255Glu)
NM_001042492.3(NF1):c.3764A>G (p.Gln1255Arg) rs1555615453
NM_001042492.3(NF1):c.3765A>C (p.Gln1255His) rs766896025
NM_001042492.3(NF1):c.3765A>T (p.Gln1255His) rs766896025
NM_001042492.3(NF1):c.3765_3766insATT (p.Gln1255_Leu1256insIle)
NM_001042492.3(NF1):c.3767T>A (p.Leu1256Gln)
NM_001042492.3(NF1):c.3767T>G (p.Leu1256Arg) rs1555615457
NM_001042492.3(NF1):c.3769C>A (p.Leu1257Ile) rs2151437853
NM_001042492.3(NF1):c.3769C>T (p.Leu1257Phe)
NM_001042492.3(NF1):c.3773G>T (p.Trp1258Leu) rs1555615458
NM_001042492.3(NF1):c.3774G>C (p.Trp1258Cys) rs1597722516
NM_001042492.3(NF1):c.3776A>G (p.Asn1259Ser) rs2151437868
NM_001042492.3(NF1):c.3779T>C (p.Met1260Thr) rs1555615463
NM_001042492.3(NF1):c.3780G>T (p.Met1260Ile)
NM_001042492.3(NF1):c.3784T>G (p.Ser1262Ala) rs2067187603
NM_001042492.3(NF1):c.3787A>G (p.Lys1263Glu)
NM_001042492.3(NF1):c.378A>C (p.Glu126Asp) rs786201914
NM_001042492.3(NF1):c.3790G>A (p.Glu1264Lys) rs863224660
NM_001042492.3(NF1):c.3790G>C (p.Glu1264Gln)
NM_001042492.3(NF1):c.3791A>G (p.Glu1264Gly) rs200603400
NM_001042492.3(NF1):c.3793G>A (p.Val1265Ile) rs2151437905
NM_001042492.3(NF1):c.3793G>T (p.Val1265Leu) rs2151437905
NM_001042492.3(NF1):c.3794T>C (p.Val1265Ala)
NM_001042492.3(NF1):c.3794_3796del (p.Val1265del) rs2067187885
NM_001042492.3(NF1):c.3796G>C (p.Glu1266Gln) rs876660667
NM_001042492.3(NF1):c.3797A>G (p.Glu1266Gly)
NM_001042492.3(NF1):c.379_380delinsTT (p.Gly127Leu) rs2143672112
NM_001042492.3(NF1):c.3801G>T (p.Leu1267Phe) rs786201366
NM_001042492.3(NF1):c.3802G>T (p.Ala1268Ser) rs758051144
NM_001042492.3(NF1):c.3803C>G (p.Ala1268Gly) rs2067188136
NM_001042492.3(NF1):c.3803C>T (p.Ala1268Val) rs2067188136
NM_001042492.3(NF1):c.3805G>A (p.Asp1269Asn)
NM_001042492.3(NF1):c.3806A>G (p.Asp1269Gly) rs2151437934
NM_001042492.3(NF1):c.3808T>A (p.Ser1270Thr) rs1597722567
NM_001042492.3(NF1):c.3808T>C (p.Ser1270Pro) rs1597722567
NM_001042492.3(NF1):c.3809C>T (p.Ser1270Phe)
NM_001042492.3(NF1):c.380G>A (p.Gly127Glu)
NM_001042492.3(NF1):c.3811A>C (p.Met1271Leu) rs746583007
NM_001042492.3(NF1):c.3812T>C (p.Met1271Thr) rs876659801
NM_001042492.3(NF1):c.3813G>A (p.Met1271Ile) rs876658565
NM_001042492.3(NF1):c.3813G>C (p.Met1271Ile) rs876658565
NM_001042492.3(NF1):c.3814C>A (p.Gln1272Lys) rs2067188361
NM_001042492.3(NF1):c.3815A>G (p.Gln1272Arg) rs1597722580
NM_001042492.3(NF1):c.3815A>T (p.Gln1272Leu) rs1597722580
NM_001042492.3(NF1):c.3816G>C (p.Gln1272His)
NM_001042492.3(NF1):c.3817A>G (p.Thr1273Ala)
NM_001042492.3(NF1):c.3818C>A (p.Thr1273Asn)
NM_001042492.3(NF1):c.3818C>G (p.Thr1273Ser)
NM_001042492.3(NF1):c.3818C>T (p.Thr1273Ile)
NM_001042492.3(NF1):c.3818_3819delinsGA (p.Thr1273Arg) rs2067188491
NM_001042492.3(NF1):c.3820C>T (p.Leu1274Phe) rs2067188550
NM_001042492.3(NF1):c.3821T>C (p.Leu1274Pro)
NM_001042492.3(NF1):c.3823T>G (p.Phe1275Val)
NM_001042492.3(NF1):c.3826_3827delinsGA (p.Arg1276Glu)
NM_001042492.3(NF1):c.3830G>A (p.Gly1277Asp)
NM_001042492.3(NF1):c.3830G>C (p.Gly1277Ala)
NM_001042492.3(NF1):c.3830G>T (p.Gly1277Val) rs1555615480
NM_001042492.3(NF1):c.3831C>T (p.Gly1277=) rs1597722611
NM_001042492.3(NF1):c.3832A>G (p.Asn1278Asp)
NM_001042492.3(NF1):c.3833A>G (p.Asn1278Ser) rs2067188951
NM_001042492.3(NF1):c.3833A>T (p.Asn1278Ile) rs2067188951
NM_001042492.3(NF1):c.3834C>A (p.Asn1278Lys)
NM_001042492.3(NF1):c.3835A>T (p.Ser1279Cys)
NM_001042492.3(NF1):c.3836G>A (p.Ser1279Asn) rs1170788683
NM_001042492.3(NF1):c.3838T>G (p.Leu1280Val)
NM_001042492.3(NF1):c.383A>G (p.Asn128Ser)
NM_001042492.3(NF1):c.3840G>T (p.Leu1280Phe)
NM_001042492.3(NF1):c.3841G>A (p.Ala1281Thr) rs2151438011
NM_001042492.3(NF1):c.3841G>C (p.Ala1281Pro) rs2151438011
NM_001042492.3(NF1):c.3842C>A (p.Ala1281Asp)
NM_001042492.3(NF1):c.3842C>G (p.Ala1281Gly) rs1060500341
NM_001042492.3(NF1):c.3844A>G (p.Ser1282Gly)
NM_001042492.3(NF1):c.3847A>G (p.Lys1283Glu)
NM_001042492.3(NF1):c.3849A>G (p.Lys1283=) rs1597722644
NM_001042492.3(NF1):c.3849A>T (p.Lys1283Asn) rs1597722644
NM_001042492.3(NF1):c.3850A>G (p.Ile1284Val) rs775206529
NM_001042492.3(NF1):c.3852A>G (p.Ile1284Met) rs1597722650
NM_001042492.3(NF1):c.3853A>C (p.Met1285Leu) rs2151438030
NM_001042492.3(NF1):c.3853A>G (p.Met1285Val)
NM_001042492.3(NF1):c.3853A>T (p.Met1285Leu) rs2151438030
NM_001042492.3(NF1):c.3854T>C (p.Met1285Thr)
NM_001042492.3(NF1):c.3854T>G (p.Met1285Arg) rs2067189465
NM_001042492.3(NF1):c.3855G>C (p.Met1285Ile) rs2067189497
NM_001042492.3(NF1):c.3855G>T (p.Met1285Ile) rs2067189497
NM_001042492.3(NF1):c.3857C>T (p.Thr1286Ile) rs1060500306
NM_001042492.3(NF1):c.3859T>C (p.Phe1287Leu) rs1434858786
NM_001042492.3(NF1):c.3859T>G (p.Phe1287Val) rs1434858786
NM_001042492.3(NF1):c.3861C>A (p.Phe1287Leu) rs749107019
NM_001042492.3(NF1):c.3863G>A (p.Cys1288Tyr) rs1597722661
NM_001042492.3(NF1):c.3863G>T (p.Cys1288Phe)
NM_001042492.3(NF1):c.3866T>G (p.Phe1289Cys) rs2151438065
NM_001042492.3(NF1):c.3867C>G (p.Phe1289Leu) rs138186428
NM_001042492.3(NF1):c.3868A>G (p.Lys1290Glu) rs876658521
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.3871-15C>A
NM_001042492.3(NF1):c.3871-31_3871-8del
NM_001042492.3(NF1):c.3871-4G>A rs558421445
NM_001042492.3(NF1):c.3871-5T>G rs1597722882
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.3880G>A (p.Ala1294Thr) rs2067193484
NM_001042492.3(NF1):c.3881C>T (p.Ala1294Val) rs878853889
NM_001042492.3(NF1):c.3884C>T (p.Thr1295Ile) rs2151438517
NM_001042492.3(NF1):c.3887A>G (p.Tyr1296Cys)
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.3891_3899del (p.Gln1298_Leu1300del) rs2151438534
NM_001042492.3(NF1):c.3893A>G (p.Gln1298Arg) rs786203509
NM_001042492.3(NF1):c.3895A>C (p.Lys1299Gln) rs2067193845
NM_001042492.3(NF1):c.3896A>C (p.Lys1299Thr)
NM_001042492.3(NF1):c.3897A>T (p.Lys1299Asn)
NM_001042492.3(NF1):c.389A>C (p.His130Pro)
NM_001042492.3(NF1):c.389A>G (p.His130Arg) rs876660277
NM_001042492.3(NF1):c.389A>T (p.His130Leu) rs876660277
NM_001042492.3(NF1):c.3900_3902del (p.Leu1301del) rs2067193878
NM_001042492.3(NF1):c.3902T>C (p.Leu1301Pro) rs2151438576
NM_001042492.3(NF1):c.3904G>A (p.Asp1302Asn) rs1597722958
NM_001042492.3(NF1):c.3905A>G (p.Asp1302Gly) rs2067194038
NM_001042492.3(NF1):c.3906T>A (p.Asp1302Glu) rs549058591
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.390T>A (p.His130Gln) rs1597635884
NM_001042492.3(NF1):c.3912A>T (p.Leu1304Phe) rs2151438597
NM_001042492.3(NF1):c.3916C>T (p.Arg1306Ter) rs376576925
NM_001042492.3(NF1):c.3917G>A (p.Arg1306Gln) rs1306237220
NM_001042492.3(NF1):c.391G>A (p.Ala131Thr)
NM_001042492.3(NF1):c.3920T>G (p.Ile1307Ser) rs2067194362
NM_001042492.3(NF1):c.3921T>G (p.Ile1307Met) rs876660805
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.3928A>G (p.Thr1310Ala)
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.3937G>C (p.Asp1313His)
NM_001042492.3(NF1):c.393_394delinsCC (p.Ala132Pro) rs2065794141
NM_001042492.3(NF1):c.3941G>T (p.Trp1314Leu)
NM_001042492.3(NF1):c.3943C>A (p.Gln1315Lys) rs2067194846
NM_001042492.3(NF1):c.3944A>C (p.Gln1315Pro)
NM_001042492.3(NF1):c.3945A>C (p.Gln1315His)
NM_001042492.3(NF1):c.3946C>T (p.His1316Tyr) rs1218464470
NM_001042492.3(NF1):c.3947A>C (p.His1316Pro) rs751023085
NM_001042492.3(NF1):c.3947A>T (p.His1316Leu) rs751023085
NM_001042492.3(NF1):c.3949G>A (p.Val1317Ile) rs1555615560
NM_001042492.3(NF1):c.3949G>C (p.Val1317Leu) rs1555615560
NM_001042492.3(NF1):c.394G>A (p.Ala132Thr)
NM_001042492.3(NF1):c.394G>C (p.Ala132Pro)
NM_001042492.3(NF1):c.3950T>C (p.Val1317Ala)
NM_001042492.3(NF1):c.3952A>G (p.Ser1318Gly)
NM_001042492.3(NF1):c.3953G>A (p.Ser1318Asn) rs587781900
NM_001042492.3(NF1):c.3953G>C (p.Ser1318Thr)
NM_001042492.3(NF1):c.3955T>C (p.Phe1319Leu)
NM_001042492.3(NF1):c.3955T>G (p.Phe1319Val)
NM_001042492.3(NF1):c.3957T>G (p.Phe1319Leu)
NM_001042492.3(NF1):c.3958G>A (p.Glu1320Lys) rs1273280025
NM_001042492.3(NF1):c.3959A>C (p.Glu1320Ala) rs1555615562
NM_001042492.3(NF1):c.3959A>G (p.Glu1320Gly)
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.3964G>A (p.Asp1322Asn) rs1597723042
NM_001042492.3(NF1):c.3964G>C (p.Asp1322His) rs1597723042
NM_001042492.3(NF1):c.3964G>T (p.Asp1322Tyr)
NM_001042492.3(NF1):c.3965A>C (p.Asp1322Ala) rs1555615565
NM_001042492.3(NF1):c.3965A>G (p.Asp1322Gly)
NM_001042492.3(NF1):c.3965A>T (p.Asp1322Val) rs1555615565
NM_001042492.3(NF1):c.3967C>G (p.Pro1323Ala) rs2067195656
NM_001042492.3(NF1):c.3967C>T (p.Pro1323Ser) rs2067195656
NM_001042492.3(NF1):c.3968C>G (p.Pro1323Arg)
NM_001042492.3(NF1):c.3968C>T (p.Pro1323Leu)
NM_001042492.3(NF1):c.3971C>T (p.Thr1324Ile) rs2067195762
NM_001042492.3(NF1):c.3972C>T (p.Thr1324=) rs1597723059
NM_001042492.3(NF1):c.3973A>G (p.Arg1325Gly) rs2151438704
NM_001042492.3(NF1):c.3973A>T (p.Arg1325Trp)
NM_001042492.3(NF1):c.3974+260T>G rs1567853044
NM_001042492.3(NF1):c.3974+3T>G rs1597723069
NM_001042492.3(NF1):c.3975-2_4018dup rs2151451269
NM_001042492.3(NF1):c.3975-5dup rs786202231
NM_001042492.3(NF1):c.3975-7T>C rs2151451258
NM_001042492.3(NF1):c.3975-8T>C rs1470107394
NM_001042492.3(NF1):c.3975G>T (p.Arg1325Ser) rs1597734999
NM_001042492.3(NF1):c.3978A>T (p.Leu1326Phe) rs876660506
NM_001042492.3(NF1):c.397G>A (p.Glu133Lys) rs2065794225
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.3989A>G (p.Glu1330Gly) rs1256727206
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.3992G>C (p.Ser1331Thr) rs1567858266
NM_001042492.3(NF1):c.3993C>G (p.Ser1331Arg) rs2067448156
NM_001042492.3(NF1):c.3995T>C (p.Leu1332Pro)
NM_001042492.3(NF1):c.3997G>A (p.Glu1333Lys) rs2151451342
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.4004A>C (p.Asn1335Thr) rs1555617304
NM_001042492.3(NF1):c.4004A>G (p.Asn1335Ser) rs1555617304
NM_001042492.3(NF1):c.4005C>G (p.Asn1335Lys) rs2067448469
NM_001042492.3(NF1):c.4007A>C (p.Gln1336Pro) rs1597735043
NM_001042492.3(NF1):c.4008G>C (p.Gln1336His)
NM_001042492.3(NF1):c.4008G>T (p.Gln1336His) rs2067448530
NM_001042492.3(NF1):c.4010G>A (p.Arg1337Gln) rs1060500379
NM_001042492.3(NF1):c.4011G>C (p.Arg1337=) rs2067448681
NM_001042492.3(NF1):c.4012A>C (p.Asn1338His) rs864622202
NM_001042492.3(NF1):c.4014C>A (p.Asn1338Lys)
NM_001042492.3(NF1):c.4014CCT[1] (p.Leu1340del) rs863224834
NM_001042492.3(NF1):c.4015C>G (p.Leu1339Val) rs876660466
NM_001042492.3(NF1):c.4015C>T (p.Leu1339Phe) rs876660466
NM_001042492.3(NF1):c.4016T>C (p.Leu1339Pro) rs1567858306
NM_001042492.3(NF1):c.4018C>G (p.Leu1340Val)
NM_001042492.3(NF1):c.4018C>T (p.Leu1340Phe) rs876658268
NM_001042492.3(NF1):c.4022A>G (p.Gln1341Arg) rs1555617325
NM_001042492.3(NF1):c.4022A>T (p.Gln1341Leu) rs1555617325
NM_001042492.3(NF1):c.4023G>C (p.Gln1341His)
NM_001042492.3(NF1):c.4025T>C (p.Met1342Thr) rs1326621088
NM_001042492.3(NF1):c.4026G>A (p.Met1342Ile) rs2067449278
NM_001042492.3(NF1):c.4028C>G (p.Thr1343Ser) rs2151451433
NM_001042492.3(NF1):c.4029_4030insTTT (p.Thr1343_Glu1344insPhe)
NM_001042492.3(NF1):c.4030G>A (p.Glu1344Lys)
NM_001042492.3(NF1):c.4034A>G (p.Lys1345Arg)
NM_001042492.3(NF1):c.4035G>C (p.Lys1345Asn)
NM_001042492.3(NF1):c.4036T>A (p.Phe1346Ile) rs2151451451
NM_001042492.3(NF1):c.4038C>A (p.Phe1346Leu) rs2067449447
NM_001042492.3(NF1):c.403_405del (p.Arg135del) rs1597635919
NM_001042492.3(NF1):c.4041C>A (p.Phe1347Leu)
NM_001042492.3(NF1):c.4043A>C (p.His1348Pro)
NM_001042492.3(NF1):c.4043A>G (p.His1348Arg) rs786201844
NM_001042492.3(NF1):c.4043A>T (p.His1348Leu) rs786201844
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.4045G>T (p.Ala1349Ser) rs1555617332
NM_001042492.3(NF1):c.4046C>T (p.Ala1349Val) rs1229215269
NM_001042492.3(NF1):c.4048A>G (p.Ile1350Val) rs1567858357
NM_001042492.3(NF1):c.4049T>A (p.Ile1350Asn)
NM_001042492.3(NF1):c.4049T>C (p.Ile1350Thr)
NM_001042492.3(NF1):c.404G>T (p.Arg135Leu) rs1060500244
NM_001042492.3(NF1):c.4051A>C (p.Ile1351Leu) rs1233135542
NM_001042492.3(NF1):c.4051A>T (p.Ile1351Phe)
NM_001042492.3(NF1):c.4052T>A (p.Ile1351Asn)
NM_001042492.3(NF1):c.4054A>C (p.Ser1352Arg)
NM_001042492.3(NF1):c.4054A>T (p.Ser1352Cys) rs1337343400
NM_001042492.3(NF1):c.4055G>T (p.Ser1352Ile) rs876660908
NM_001042492.3(NF1):c.4058C>T (p.Ser1353Phe) rs1555617346
NM_001042492.3(NF1):c.4060T>A (p.Ser1354Thr)
NM_001042492.3(NF1):c.4061C>A (p.Ser1354Tyr) rs1555617348
NM_001042492.3(NF1):c.4061C>T (p.Ser1354Phe) rs1555617348
NM_001042492.3(NF1):c.4064C>T (p.Ser1355Leu) rs1131691087
NM_001042492.3(NF1):c.4067A>C (p.Glu1356Ala)
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.4069T>G (p.Phe1357Val)
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.4073C>T (p.Pro1358Leu) rs2067450726
NM_001042492.3(NF1):c.4074_4075delinsAA (p.Pro1359Thr) rs1555617362
NM_001042492.3(NF1):c.4075C>A (p.Pro1359Thr) rs745931495
NM_001042492.3(NF1):c.4075C>T (p.Pro1359Ser)
NM_001042492.3(NF1):c.4081C>A (p.Leu1361Ile)
NM_001042492.3(NF1):c.4081C>T (p.Leu1361Phe)
NM_001042492.3(NF1):c.4082T>G (p.Leu1361Arg)
NM_001042492.3(NF1):c.4084C>G (p.Arg1362Gly)
NM_001042492.3(NF1):c.4085G>A (p.Arg1362Gln) rs540108477
NM_001042492.3(NF1):c.4085G>T (p.Arg1362Leu) rs540108477
NM_001042492.3(NF1):c.4090G>A (p.Val1364Met) rs749748720
NM_001042492.3(NF1):c.4093T>C (p.Cys1365Arg) rs1364158639
NM_001042492.3(NF1):c.4095C>T (p.Cys1365=) rs1060503922
NM_001042492.3(NF1):c.4096C>T (p.His1366Tyr)
NM_001042492.3(NF1):c.4097A>G (p.His1366Arg) rs769042915
NM_001042492.3(NF1):c.4099T>C (p.Cys1367Arg) rs2151451647
NM_001042492.3(NF1):c.4100G>A (p.Cys1367Tyr) rs2151451650
NM_001042492.3(NF1):c.4103T>C (p.Leu1368Ser) rs1597735265
NM_001042492.3(NF1):c.4105T>C (p.Tyr1369His)
NM_001042492.3(NF1):c.4109A>C (p.Gln1370Pro) rs1135402853
NM_001042492.3(NF1):c.410C>T (p.Ser137Phe) rs1597635932
NM_001042492.3(NF1):c.4110+13T>G
NM_001042492.3(NF1):c.4110+3A>C rs774669878
NM_001042492.3(NF1):c.4110+4T>A rs587781700
NM_001042492.3(NF1):c.4110+4T>G rs587781700
NM_001042492.3(NF1):c.4110+5_4110+8del rs2067451835
NM_001042492.3(NF1):c.4110+6C>T rs2067451891
NM_001042492.3(NF1):c.4110G>A (p.Gln1370=) rs1135402854
NM_001042492.3(NF1):c.4110G>C (p.Gln1370His) rs1135402854
NM_001042492.3(NF1):c.4118G>C (p.Cys1373Ser)
NM_001042492.3(NF1):c.412G>A (p.Ala138Thr) rs1597635936
NM_001042492.3(NF1):c.4138G>C (p.Ala1380Pro) rs876658191
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.415T>G (p.Ser139Ala) rs1555606096
NM_001042492.3(NF1):c.4169A>G (p.Lys1390Arg)
NM_001042492.3(NF1):c.416C>G (p.Ser139Cys) rs1262333812
NM_001042492.3(NF1):c.416C>T (p.Ser139Phe) rs1262333812
NM_001042492.3(NF1):c.4174-15A>G
NM_001042492.3(NF1):c.4174-17_4174-16insCTTGTTTTTAGGTGGTTAGCCTAAA rs2151461675
NM_001042492.3(NF1):c.4174-22A>G
NM_001042492.3(NF1):c.4174-3T>C rs786202602
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.4177G>A (p.Val1393Ile)
NM_001042492.3(NF1):c.4178T>G (p.Val1393Gly) rs769555730
NM_001042492.3(NF1):c.4181G>A (p.Ser1394Asn)
NM_001042492.3(NF1):c.4183C>G (p.Gln1395Glu)
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.418G>A (p.Gly140Arg) rs2065794781
NM_001042492.3(NF1):c.4191C>A (p.Phe1397Leu) rs1555618498
NM_001042492.3(NF1):c.4191C>G (p.Phe1397Leu)
NM_001042492.3(NF1):c.4192C>T (p.Pro1398Ser)
NM_001042492.3(NF1):c.4193C>T (p.Pro1398Leu) rs864622299
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.4199A>G (p.Asn1400Ser)
NM_001042492.3(NF1):c.419G>A (p.Gly140Glu)
NM_001042492.3(NF1):c.4200C>G (p.Asn1400Lys)
NM_001042492.3(NF1):c.4200C>T (p.Asn1400=) rs2151461842
NM_001042492.3(NF1):c.4201A>G (p.Ser1401Gly) rs1060500310
NM_001042492.3(NF1):c.4202G>A (p.Ser1401Asn) rs1060500249
NM_001042492.3(NF1):c.4202G>C (p.Ser1401Thr) rs1060500249
NM_001042492.3(NF1):c.4202G>T (p.Ser1401Ile) rs1060500249
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.4207G>T (p.Gly1403Cys)
NM_001042492.3(NF1):c.4208G>A (p.Gly1403Asp)
NM_001042492.3(NF1):c.4208G>C (p.Gly1403Ala)
NM_001042492.3(NF1):c.4210G>T (p.Ala1404Ser)
NM_001042492.3(NF1):c.4211C>T (p.Ala1404Val) rs1060500257
NM_001042492.3(NF1):c.4211_4213dup (p.Ala1404dup) rs2067621081
NM_001042492.3(NF1):c.4213_4242dup (p.Ile1414_Asn1415insValGlySerAlaMetPheLeuArgPheIle)
NM_001042492.3(NF1):c.4214T>C (p.Val1405Ala) rs1186560791
NM_001042492.3(NF1):c.4217G>T (p.Gly1406Val) rs1555618505
NM_001042492.3(NF1):c.4219A>C (p.Ser1407Arg)
NM_001042492.3(NF1):c.4219A>G (p.Ser1407Gly) rs587781755
NM_001042492.3(NF1):c.421G>A (p.Val141Ile) rs2143672914
NM_001042492.3(NF1):c.4221T>A (p.Ser1407Arg)
NM_001042492.3(NF1):c.4221T>G (p.Ser1407Arg) rs2067621366
NM_001042492.3(NF1):c.4223C>A (p.Ala1408Asp) rs2151461922
NM_001042492.3(NF1):c.4226T>C (p.Met1409Thr) rs1555618508
NM_001042492.3(NF1):c.4226T>G (p.Met1409Arg) rs1555618508
NM_001042492.3(NF1):c.4227G>A (p.Met1409Ile) rs786201895
NM_001042492.3(NF1):c.4227G>C (p.Met1409Ile) rs786201895
NM_001042492.3(NF1):c.4227G>T (p.Met1409Ile)
NM_001042492.3(NF1):c.4228T>A (p.Phe1410Ile) rs2151461937
NM_001042492.3(NF1):c.4228T>G (p.Phe1410Val) rs2151461937
NM_001042492.3(NF1):c.4230C>A (p.Phe1410Leu)
NM_001042492.3(NF1):c.4230C>G (p.Phe1410Leu) rs750213850
NM_001042492.3(NF1):c.4235G>C (p.Arg1412Thr) rs1555618516
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.4240A>G (p.Ile1414Val) rs2151461966
NM_001042492.3(NF1):c.4241T>G (p.Ile1414Ser) rs2151461968
NM_001042492.3(NF1):c.4243A>C (p.Asn1415His) rs1555618518
NM_001042492.3(NF1):c.4243A>G (p.Asn1415Asp) rs1555618518
NM_001042492.3(NF1):c.4246C>G (p.Pro1416Ala) rs2151461990
NM_001042492.3(NF1):c.4247C>A (p.Pro1416His) rs1555618521
NM_001042492.3(NF1):c.4247C>G (p.Pro1416Arg) rs1555618521
NM_001042492.3(NF1):c.4247C>T (p.Pro1416Leu) rs1555618521
NM_001042492.3(NF1):c.4247_4248delinsTC (p.Pro1416Leu) rs2151461995
NM_001042492.3(NF1):c.4249G>T (p.Ala1417Ser) rs587781941
NM_001042492.3(NF1):c.4250C>T (p.Ala1417Val)
NM_001042492.3(NF1):c.4252_4253insCAA (p.Ala1417_Ile1418insThr) rs1783538929
NM_001042492.3(NF1):c.4252_4254del (p.Ile1418del) rs1597744672
NM_001042492.3(NF1):c.4253T>C (p.Ile1418Thr)
NM_001042492.3(NF1):c.4254T>A (p.Ile1418=)
NM_001042492.3(NF1):c.4255G>A (p.Val1419Ile) rs2067622413
NM_001042492.3(NF1):c.4256T>C (p.Val1419Ala)
NM_001042492.3(NF1):c.4256T>G (p.Val1419Gly)
NM_001042492.3(NF1):c.4258T>C (p.Ser1420Pro) rs1555618533
NM_001042492.3(NF1):c.4261C>G (p.Pro1421Ala) rs1347152182
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.4264T>A (p.Tyr1422Asn)
NM_001042492.3(NF1):c.4264T>C (p.Tyr1422His) rs17884349
NM_001042492.3(NF1):c.4265A>G (p.Tyr1422Cys) rs1555618544
NM_001042492.3(NF1):c.4267G>A (p.Glu1423Lys) rs2067622976
NM_001042492.3(NF1):c.426_437del (p.Leu142_Ser146delinsPhe) rs2143673002
NM_001042492.3(NF1):c.4271C>A (p.Ala1424Glu) rs2067623060
NM_001042492.3(NF1):c.4274G>A (p.Gly1425Glu) rs1555618547
NM_001042492.3(NF1):c.4275G>T (p.Gly1425=)
NM_001042492.3(NF1):c.4277T>C (p.Ile1426Thr) rs1555618549
NM_001042492.3(NF1):c.427T>A (p.Phe143Ile)
NM_001042492.3(NF1):c.427T>C (p.Phe143Leu) rs2065794956
NM_001042492.3(NF1):c.4282G>T (p.Asp1428Tyr) rs2151462089
NM_001042492.3(NF1):c.4284T>A (p.Asp1428Glu)
NM_001042492.3(NF1):c.4288A>C (p.Lys1430Gln) rs2151462099
NM_001042492.3(NF1):c.4288A>G (p.Lys1430Glu)
NM_001042492.3(NF1):c.4289A>G (p.Lys1430Arg)
NM_001042492.3(NF1):c.4290G>C (p.Lys1430Asn)
NM_001042492.3(NF1):c.4290G>T (p.Lys1430Asn) rs373086572
NM_001042492.3(NF1):c.4290_4291delinsCT (p.Lys1430_Pro1431delinsAsnSer) rs1567862024
NM_001042492.3(NF1):c.4291C>T (p.Pro1431Ser)
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>A (p.Pro1433His)
NM_001042492.3(NF1):c.4298C>G (p.Pro1433Arg) rs1310048288
NM_001042492.3(NF1):c.4298C>T (p.Pro1433Leu)
NM_001042492.3(NF1):c.4300A>G (p.Arg1434Gly) rs2067623934
NM_001042492.3(NF1):c.4301G>A (p.Arg1434Lys) rs1597744780
NM_001042492.3(NF1):c.4301G>T (p.Arg1434Ile) rs1597744780
NM_001042492.3(NF1):c.4303A>T (p.Ile1435Phe)
NM_001042492.3(NF1):c.4305C>G (p.Ile1435Met)
NM_001042492.3(NF1):c.4306G>C (p.Glu1436Gln) rs876660428
NM_001042492.3(NF1):c.4307A>T (p.Glu1436Val)
NM_001042492.3(NF1):c.4309A>T (p.Arg1437Trp) rs1555618558
NM_001042492.3(NF1):c.4310G>A (p.Arg1437Lys) rs1567862061
NM_001042492.3(NF1):c.4312G>A (p.Gly1438Ser) rs1555618559
NM_001042492.3(NF1):c.4312G>T (p.Gly1438Cys) rs1555618559
NM_001042492.3(NF1):c.4313G>A (p.Gly1438Asp)
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>C (p.Leu1439Ser) rs1567862071
NM_001042492.3(NF1):c.4316T>G (p.Leu1439Trp) rs1567862071
NM_001042492.3(NF1):c.4319A>G (p.Lys1440Arg) rs199474788
NM_001042492.3(NF1):c.431C>T (p.Ser144Phe) rs2065795028
NM_001042492.3(NF1):c.4321T>A (p.Leu1441Ile) rs786201458
NM_001042492.3(NF1):c.4322T>C (p.Leu1441Ser)
NM_001042492.3(NF1):c.4324A>G (p.Met1442Val)
NM_001042492.3(NF1):c.4325T>G (p.Met1442Arg) rs1131691097
NM_001042492.3(NF1):c.4328C>T (p.Ser1443Leu) rs1555618566
NM_001042492.3(NF1):c.4331A>T (p.Lys1444Met) rs199474781
NM_001042492.3(NF1):c.4332+22_4332+25del rs768273651
NM_001042492.3(NF1):c.4333-13_4333-4delinsAACAGGGTTATAAATA
NM_001042492.3(NF1):c.4333-230A>G
NM_001042492.3(NF1):c.4333-2dup
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.4333A>G (p.Ile1445Val)
NM_001042492.3(NF1):c.4333A>T (p.Ile1445Leu) rs1555618637
NM_001042492.3(NF1):c.4334T>C (p.Ile1445Thr)
NM_001042492.3(NF1):c.4334T>G (p.Ile1445Arg) rs1597745565
NM_001042492.3(NF1):c.4336C>G (p.Leu1446Val) rs1555618639
NM_001042492.3(NF1):c.4336C>T (p.Leu1446Phe) rs1555618639
NM_001042492.3(NF1):c.4337T>C (p.Leu1446Pro) rs199474733
NM_001042492.3(NF1):c.433C>G (p.Leu145Val) rs786203460
NM_001042492.3(NF1):c.433C>T (p.Leu145Phe) rs786203460
NM_001042492.3(NF1):c.4344T>G (p.Ser1448Arg) rs1555618644
NM_001042492.3(NF1):c.4346T>G (p.Ile1449Ser)
NM_001042492.3(NF1):c.4348G>T (p.Ala1450Ser)
NM_001042492.3(NF1):c.4349C>A (p.Ala1450Asp) rs2067636212
NM_001042492.3(NF1):c.4349C>T (p.Ala1450Val) rs2067636212
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.4352A>T (p.Asn1451Ile) 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>C (p.Val1453Leu) rs199474755
NM_001042492.3(NF1):c.4357G>T (p.Val1453Phe) rs199474755
NM_001042492.3(NF1):c.4358T>C (p.Val1453Ala) rs1306807858
NM_001042492.3(NF1):c.4360C>G (p.Leu1454Val) rs1408832954
NM_001042492.3(NF1):c.4360C>T (p.Leu1454Phe) rs1408832954
NM_001042492.3(NF1):c.4361T>C (p.Leu1454Pro) rs2067636896
NM_001042492.3(NF1):c.4367C>T (p.Thr1456Ile)
NM_001042492.3(NF1):c.4369_4371del (p.Lys1457del) rs1555618653
NM_001042492.3(NF1):c.436A>G (p.Ser146Gly) rs2143673178
NM_001042492.3(NF1):c.4370A>T (p.Lys1457Ile)
NM_001042492.3(NF1):c.4372G>C (p.Glu1458Gln)
NM_001042492.3(NF1):c.4373A>T (p.Glu1458Val)
NM_001042492.3(NF1):c.4374A>T (p.Glu1458Asp)
NM_001042492.3(NF1):c.4375G>C (p.Glu1459Gln) rs1597745663
NM_001042492.3(NF1):c.4378C>A (p.His1460Asn) rs377295676
NM_001042492.3(NF1):c.4378C>T (p.His1460Tyr) rs377295676
NM_001042492.3(NF1):c.4379A>G (p.His1460Arg) rs748990989
NM_001042492.3(NF1):c.4379A>T (p.His1460Leu) rs748990989
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.4382T>G (p.Met1461Arg) rs754639587
NM_001042492.3(NF1):c.4383G>A (p.Met1461Ile) rs1555618677
NM_001042492.3(NF1):c.4387C>A (p.Pro1463Thr) rs1597745703
NM_001042492.3(NF1):c.4387C>T (p.Pro1463Ser)
NM_001042492.3(NF1):c.438C>A (p.Ser146Arg)
NM_001042492.3(NF1):c.4390T>C (p.Phe1464Leu) rs2067638875
NM_001042492.3(NF1):c.4391T>C (p.Phe1464Ser)
NM_001042492.3(NF1):c.4394A>G (p.Asn1465Ser) rs786202492
NM_001042492.3(NF1):c.4395T>G (p.Asn1465Lys)
NM_001042492.3(NF1):c.4396G>T (p.Asp1466Tyr) rs878853895
NM_001042492.3(NF1):c.4398T>G (p.Asp1466Glu) rs2151463134
NM_001042492.3(NF1):c.439T>C (p.Cys147Arg) rs1555606104
NM_001042492.3(NF1):c.439_468dup (p.Cys147_Arg156dup) rs2143673214
NM_001042492.3(NF1):c.4400T>C (p.Phe1467Ser)
NM_001042492.3(NF1):c.4400T>G (p.Phe1467Cys) rs1555618685
NM_001042492.3(NF1):c.4402G>A (p.Val1468Met) rs876660320
NM_001042492.3(NF1):c.4405A>G (p.Lys1469Glu)
NM_001042492.3(NF1):c.4411_4416del (p.Asn1471_Phe1472del) rs2151463175
NM_001042492.3(NF1):c.4412A>C (p.Asn1471Thr) rs876658250
NM_001042492.3(NF1):c.4412A>G (p.Asn1471Ser) rs876658250
NM_001042492.3(NF1):c.4415T>C (p.Phe1472Ser)
NM_001042492.3(NF1):c.4415T>G (p.Phe1472Cys) rs1597745737
NM_001042492.3(NF1):c.4424C>G (p.Ala1475Gly)
NM_001042492.3(NF1):c.4424C>T (p.Ala1475Val) rs2151463210
NM_001042492.3(NF1):c.4427G>A (p.Arg1476His) rs1555618691
NM_001042492.3(NF1):c.4427G>T (p.Arg1476Leu) rs1555618691
NM_001042492.3(NF1):c.4428C>T (p.Arg1476=) rs2067640114
NM_001042492.3(NF1):c.4429A>G (p.Arg1477Gly) rs2067640173
NM_001042492.3(NF1):c.4430+14del rs774927748
NM_001042492.3(NF1):c.4430+1G>A rs773151680
NM_001042492.3(NF1):c.4430+20C>G rs2151463278
NM_001042492.3(NF1):c.4430+2dup
NM_001042492.3(NF1):c.4430+4A>C
NM_001042492.3(NF1):c.4430+6T>A rs1567862378
NM_001042492.3(NF1):c.4430G>A (p.Arg1477Lys) rs1060500293
NM_001042492.3(NF1):c.4430G>C (p.Arg1477Thr) rs1060500293
NM_001042492.3(NF1):c.4431-14_4431-13del
NM_001042492.3(NF1):c.4431G>A (p.Arg1477=) rs181462219
NM_001042492.3(NF1):c.4431G>T (p.Arg1477Ser) rs181462219
NM_001042492.3(NF1):c.4432T>C (p.Phe1478Leu)
NM_001042492.3(NF1):c.4432T>G (p.Phe1478Val) rs1555618802
NM_001042492.3(NF1):c.4433T>A (p.Phe1478Tyr)
NM_001042492.3(NF1):c.4433T>G (p.Phe1478Cys) rs1597746900
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>A (p.Phe1479Leu) rs757953485
NM_001042492.3(NF1):c.4437C>G (p.Phe1479Leu) rs757953485
NM_001042492.3(NF1):c.4442A>G (p.Asp1481Gly) rs777229737
NM_001042492.3(NF1):c.4444A>G (p.Ile1482Val) rs1060500362
NM_001042492.3(NF1):c.4445T>A (p.Ile1482Lys)
NM_001042492.3(NF1):c.4445T>G (p.Ile1482Arg) rs746994734
NM_001042492.3(NF1):c.4447G>A (p.Ala1483Thr) rs1555618808
NM_001042492.3(NF1):c.4447G>C (p.Ala1483Pro)
NM_001042492.3(NF1):c.4447G>T (p.Ala1483Ser) rs1555618808
NM_001042492.3(NF1):c.4448C>G (p.Ala1483Gly) rs564989006
NM_001042492.3(NF1):c.4450T>A (p.Ser1484Thr)
NM_001042492.3(NF1):c.4450T>C (p.Ser1484Pro) rs2067662922
NM_001042492.3(NF1):c.4453G>T (p.Asp1485Tyr) rs2067662991
NM_001042492.3(NF1):c.4454A>G (p.Asp1485Gly) rs1279391103
NM_001042492.3(NF1):c.4455T>G (p.Asp1485Glu)
NM_001042492.3(NF1):c.4456T>A (p.Cys1486Ser)
NM_001042492.3(NF1):c.4456T>C (p.Cys1486Arg)
NM_001042492.3(NF1):c.4457G>A (p.Cys1486Tyr)
NM_001042492.3(NF1):c.4459C>T (p.Pro1487Ser) rs1265291141
NM_001042492.3(NF1):c.445A>G (p.Asn149Asp) rs750974024
NM_001042492.3(NF1):c.4462A>C (p.Thr1488Pro) rs876660162
NM_001042492.3(NF1):c.4462A>G (p.Thr1488Ala) rs876660162
NM_001042492.3(NF1):c.4463C>T (p.Thr1488Ile) rs1597746958
NM_001042492.3(NF1):c.4466G>A (p.Ser1489Asn) rs2067663434
NM_001042492.3(NF1):c.4469A>G (p.Asp1490Gly) rs2067663471
NM_001042492.3(NF1):c.446A>C (p.Asn149Thr) rs2143673370
NM_001042492.3(NF1):c.446A>G (p.Asn149Ser) rs2143673370
NM_001042492.3(NF1):c.4470T>A (p.Asp1490Glu) rs745678532
NM_001042492.3(NF1):c.4471G>A (p.Ala1491Thr) rs2067663552
NM_001042492.3(NF1):c.4472C>T (p.Ala1491Val) rs876658334
NM_001042492.3(NF1):c.4475T>C (p.Val1492Ala) rs2067663652
NM_001042492.3(NF1):c.4478A>G (p.Asn1493Ser) rs1597746976
NM_001042492.3(NF1):c.4481A>G (p.His1494Arg) rs769417700
NM_001042492.3(NF1):c.4481A>T (p.His1494Leu) rs769417700
NM_001042492.3(NF1):c.4486C>A (p.Leu1496Ile)
NM_001042492.3(NF1):c.4486C>G (p.Leu1496Val)
NM_001042492.3(NF1):c.4486C>T (p.Leu1496Phe) rs1555618823
NM_001042492.3(NF1):c.448T>G (p.Phe150Val)
NM_001042492.3(NF1):c.4490C>A (p.Ser1497Tyr)
NM_001042492.3(NF1):c.4490C>T (p.Ser1497Phe) rs1597746999
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.4498A>G (p.Ser1500Gly) rs1135402862
NM_001042492.3(NF1):c.4499G>C (p.Ser1500Thr) rs1555618829
NM_001042492.3(NF1):c.4501G>A (p.Asp1501Asn) rs2067664389
NM_001042492.3(NF1):c.4501G>T (p.Asp1501Tyr)
NM_001042492.3(NF1):c.4502A>G (p.Asp1501Gly) rs1555618835
NM_001042492.3(NF1):c.4502_4503delinsTT (p.Asp1501Val)
NM_001042492.3(NF1):c.4504_4505delinsAA (p.Gly1502Asn)
NM_001042492.3(NF1):c.4505G>A (p.Gly1502Asp)
NM_001042492.3(NF1):c.4507A>C (p.Asn1503His) rs1555618837
NM_001042492.3(NF1):c.4507A>G (p.Asn1503Asp)
NM_001042492.3(NF1):c.450C>A (p.Phe150Leu) rs202142624
NM_001042492.3(NF1):c.4510G>A (p.Val1504Met) rs1555618839
NM_001042492.3(NF1):c.4516G>C (p.Ala1506Pro)
NM_001042492.3(NF1):c.4516_4517delinsTT (p.Ala1506Phe) rs1567862930
NM_001042492.3(NF1):c.4517C>T (p.Ala1506Val)
NM_001042492.3(NF1):c.4518_4544dup (p.Asn1514_Gln1515insHisLeuHisArgLeuLeuTrpAsnAsn)
NM_001042492.3(NF1):c.451A>G (p.Asn151Asp) rs769391944
NM_001042492.3(NF1):c.4520T>C (p.Leu1507Ser) rs1135402863
NM_001042492.3(NF1):c.4522C>G (p.His1508Asp) rs1393895345
NM_001042492.3(NF1):c.4523A>G (p.His1508Arg) rs1254695587
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.4529T>C (p.Leu1510Pro) rs1597747078
NM_001042492.3(NF1):c.4529T>G (p.Leu1510Arg)
NM_001042492.3(NF1):c.452A>T (p.Asn151Ile)
NM_001042492.3(NF1):c.4530A>G (p.Leu1510=) rs876660089
NM_001042492.3(NF1):c.4530_4531insATA (p.Leu1510_Leu1511insIle)
NM_001042492.3(NF1):c.4531C>G (p.Leu1511Val) rs2067665189
NM_001042492.3(NF1):c.4531C>T (p.Leu1511Phe) rs2067665189
NM_001042492.3(NF1):c.4532_4533delinsAT (p.Leu1511His)
NM_001042492.3(NF1):c.4536G>C (p.Trp1512Cys) rs878853897
NM_001042492.3(NF1):c.4538A>G (p.Asn1513Ser) rs113205862
NM_001042492.3(NF1):c.4539C>G (p.Asn1513Lys) rs2067665418
NM_001042492.3(NF1):c.4540A>C (p.Asn1514His) rs864622404
NM_001042492.3(NF1):c.4540A>G (p.Asn1514Asp) rs864622404
NM_001042492.3(NF1):c.4546G>A (p.Glu1516Lys)
NM_001042492.3(NF1):c.4546G>C (p.Glu1516Gln) rs786203390
NM_001042492.3(NF1):c.4548G>C (p.Glu1516Asp) rs1567863000
NM_001042492.3(NF1):c.4548G>T (p.Glu1516Asp) rs1567863000
NM_001042492.3(NF1):c.4549A>G (p.Lys1517Glu) rs2067665710
NM_001042492.3(NF1):c.454G>A (p.Ala152Thr) rs2065795636
NM_001042492.3(NF1):c.4555G>A (p.Gly1519Arg) rs1060500380
NM_001042492.3(NF1):c.4557_4558delinsTA (p.Gln1520Lys)
NM_001042492.3(NF1):c.4560G>C (p.Gln1520His) rs1555618859
NM_001042492.3(NF1):c.4560G>T (p.Gln1520His) rs1555618859
NM_001042492.3(NF1):c.4562A>G (p.Tyr1521Cys) rs2067665932
NM_001042492.3(NF1):c.4562A>T (p.Tyr1521Phe) rs2067665932
NM_001042492.3(NF1):c.4565T>C (p.Leu1522Pro)
NM_001042492.3(NF1):c.4567T>C (p.Ser1523Pro)
NM_001042492.3(NF1):c.4568C>A (p.Ser1523Tyr)
NM_001042492.3(NF1):c.4568C>G (p.Ser1523Cys)
NM_001042492.3(NF1):c.4570A>G (p.Ser1524Gly) rs2151464855
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.4573A>G (p.Asn1525Asp) rs1555618861
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+2T>C rs1597747184
NM_001042492.3(NF1):c.4577+2dup rs2067666266
NM_001042492.3(NF1):c.4577+4A>G rs1555618863
NM_001042492.3(NF1):c.4577+4del
NM_001042492.3(NF1):c.4577+6A>G rs2067666398
NM_001042492.3(NF1):c.4578-11_4578-10del
NM_001042492.3(NF1):c.4578-19A>C
NM_001042492.3(NF1):c.4578-31_4578-30insAGGGAAA
NM_001042492.3(NF1):c.4578-3T>A rs1597748656
NM_001042492.3(NF1):c.4578-3del rs1597748663
NM_001042492.3(NF1):c.4578-7T>A rs2067689107
NM_001042492.3(NF1):c.4578-8G>C rs375758486
NM_001042492.3(NF1):c.4578-9T>A rs2067688959
NM_001042492.3(NF1):c.4578G>T (p.Arg1526Ser) rs1356757316
NM_001042492.3(NF1):c.4579G>A (p.Asp1527Asn)
NM_001042492.3(NF1):c.4579G>T (p.Asp1527Tyr) rs587781542
NM_001042492.3(NF1):c.4580A>T (p.Asp1527Val)
NM_001042492.3(NF1):c.4582C>T (p.His1528Tyr)
NM_001042492.3(NF1):c.4585A>G (p.Lys1529Glu)
NM_001042492.3(NF1):c.4588G>A (p.Ala1530Thr) rs2151466206
NM_001042492.3(NF1):c.458T>A (p.Val153Asp) rs2143673698
NM_001042492.3(NF1):c.458T>C (p.Val153Ala) rs2143673698
NM_001042492.3(NF1):c.4591G>A (p.Val1531Ile)
NM_001042492.3(NF1):c.4591G>T (p.Val1531Phe)
NM_001042492.3(NF1):c.4595G>A (p.Gly1532Glu)
NM_001042492.3(NF1):c.4595G>T (p.Gly1532Val)
NM_001042492.3(NF1):c.4598G>A (p.Arg1533Lys)
NM_001042492.3(NF1):c.4599A>T (p.Arg1533Ser) rs1597748710
NM_001042492.3(NF1):c.4607T>C (p.Phe1536Ser)
NM_001042492.3(NF1):c.460T>C (p.Phe154Leu)
NM_001042492.3(NF1):c.4615A>G (p.Met1539Val)
NM_001042492.3(NF1):c.4616T>A (p.Met1539Lys) rs1567863578
NM_001042492.3(NF1):c.4616T>C (p.Met1539Thr) rs1567863578
NM_001042492.3(NF1):c.4618G>A (p.Ala1540Thr) rs2151466274
NM_001042492.3(NF1):c.4619C>A (p.Ala1540Glu) rs2151466279
NM_001042492.3(NF1):c.4621A>G (p.Thr1541Ala) rs2067690191
NM_001042492.3(NF1):c.4622C>T (p.Thr1541Ile) rs2151466288
NM_001042492.3(NF1):c.4624C>G (p.Leu1542Val) rs1555619011
NM_001042492.3(NF1):c.4624C>T (p.Leu1542Phe) rs1555619011
NM_001042492.3(NF1):c.4624CTT[1] (p.Leu1543del)
NM_001042492.3(NF1):c.4628T>C (p.Leu1543Pro)
NM_001042492.3(NF1):c.4631C>A (p.Ala1544Glu) rs1555619015
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.4637T>C (p.Leu1546Pro) rs876660760
NM_001042492.3(NF1):c.4637T>G (p.Leu1546Arg)
NM_001042492.3(NF1):c.4639G>A (p.Gly1547Ser)
NM_001042492.3(NF1):c.463A>T (p.Ser155Cys) rs1272106481
NM_001042492.3(NF1):c.4640G>A (p.Gly1547Asp) rs2151466343
NM_001042492.3(NF1):c.4642C>T (p.Pro1548Ser) rs876658396
NM_001042492.3(NF1):c.4645C>G (p.Pro1549Ala) rs1555619025
NM_001042492.3(NF1):c.4646C>G (p.Pro1549Arg) rs2151466351
NM_001042492.3(NF1):c.4649A>G (p.Glu1550Gly) rs2067690886
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.4658C>T (p.Pro1553Leu)
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.4666G>C (p.Asp1556His)
NM_001042492.3(NF1):c.4667A>T (p.Asp1556Val)
NM_001042492.3(NF1):c.466C>T (p.Arg156Cys) rs755890242
NM_001042492.3(NF1):c.4670C>A (p.Thr1557Lys) rs876660065
NM_001042492.3(NF1):c.4670C>G (p.Thr1557Arg) rs876660065
NM_001042492.3(NF1):c.4670C>T (p.Thr1557Ile) rs876660065
NM_001042492.3(NF1):c.4672C>T (p.His1558Tyr) rs1468638747
NM_001042492.3(NF1):c.4673A>G (p.His1558Arg) rs1597748910
NM_001042492.3(NF1):c.467G>C (p.Arg156Pro) rs754096545
NM_001042492.3(NF1):c.467G>T (p.Arg156Leu) rs754096545
NM_001042492.3(NF1):c.4681A>G (p.Ser1561Gly)
NM_001042492.3(NF1):c.4681A>T (p.Ser1561Cys) rs2151466435
NM_001042492.3(NF1):c.4682G>C (p.Ser1561Thr) rs751414513
NM_001042492.3(NF1):c.4682G>T (p.Ser1561Ile)
NM_001042492.3(NF1):c.4683C>G (p.Ser1561Arg) rs2067691723
NM_001042492.3(NF1):c.4684C>T (p.Leu1562Phe)
NM_001042492.3(NF1):c.4685T>A (p.Leu1562His)
NM_001042492.3(NF1):c.4688A>T (p.Asn1563Ile)
NM_001042492.3(NF1):c.4694C>G (p.Thr1565Ser) rs2067691859
NM_001042492.3(NF1):c.4696A>G (p.Ser1566Gly)
NM_001042492.3(NF1):c.469A>G (p.Ile157Val) rs1555606118
NM_001042492.3(NF1):c.4700C>T (p.Ser1567Leu) rs1555619051
NM_001042492.3(NF1):c.4706T>C (p.Phe1569Ser)
NM_001042492.3(NF1):c.470T>A (p.Ile157Asn) rs199474744
NM_001042492.3(NF1):c.4717A>G (p.Met1573Val)
NM_001042492.3(NF1):c.4721C>T (p.Thr1574Ile) rs1567863650
NM_001042492.3(NF1):c.4724+1102A>C
NM_001042492.3(NF1):c.4724+2_4724+3insTTT rs2151466559
NM_001042492.3(NF1):c.4724+3A>C
NM_001042492.3(NF1):c.4724+5A>G rs2151466564
NM_001042492.3(NF1):c.4724+6G>A rs2067692408
NM_001042492.3(NF1):c.4724+7T>G
NM_001042492.3(NF1):c.4724G>A (p.Arg1575Lys)
NM_001042492.3(NF1):c.4725-3T>C rs892441625
NM_001042492.3(NF1):c.4725G>A (p.Arg1575=) rs147755637
NM_001042492.3(NF1):c.4725G>T (p.Arg1575Ser)
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.4740A>T (p.Glu1580Asp)
NM_001042492.3(NF1):c.4749A>T (p.Glu1583Asp) rs144091165
NM_001042492.3(NF1):c.4754A>G (p.Lys1585Arg)
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.475A>C (p.Thr159Pro) rs371192107
NM_001042492.3(NF1):c.4760T>C (p.Leu1587Ser)
NM_001042492.3(NF1):c.4762A>G (p.Lys1588Glu) rs2067765422
NM_001042492.3(NF1):c.4765A>C (p.Thr1589Pro)
NM_001042492.3(NF1):c.4765A>G (p.Thr1589Ala) rs2067765502
NM_001042492.3(NF1):c.4768T>G (p.Leu1590Val) rs1567865010
NM_001042492.3(NF1):c.4769T>C (p.Leu1590Ser)
NM_001042492.3(NF1):c.476C>T (p.Thr159Ile)
NM_001042492.3(NF1):c.4770A>C (p.Leu1590Phe) rs1567865021
NM_001042492.3(NF1):c.4772G>A (p.Ser1591Asn) rs1597753246
NM_001042492.3(NF1):c.4772G>C (p.Ser1591Thr) rs1597753246
NM_001042492.3(NF1):c.4774A>G (p.Ile1592Val)
NM_001042492.3(NF1):c.4775T>C (p.Ile1592Thr) rs765799937
NM_001042492.3(NF1):c.4779C>A (p.Phe1593Leu) rs2151470179
NM_001042492.3(NF1):c.4781A>G (p.Tyr1594Cys) rs1060500303
NM_001042492.3(NF1):c.4784A>G (p.Gln1595Arg) rs2151470206
NM_001042492.3(NF1):c.4786G>C (p.Ala1596Pro) rs2151470213
NM_001042492.3(NF1):c.4787C>A (p.Ala1596Asp)
NM_001042492.3(NF1):c.4787C>G (p.Ala1596Gly) rs1567865042
NM_001042492.3(NF1):c.4789G>A (p.Gly1597Arg)
NM_001042492.3(NF1):c.478A>G (p.Arg160Gly) rs1555606128
NM_001042492.3(NF1):c.478A>T (p.Arg160Trp)
NM_001042492.3(NF1):c.479+3T>G rs876658752
NM_001042492.3(NF1):c.479+5G>T rs1567818033
NM_001042492.3(NF1):c.479+6T>C rs1567818036
NM_001042492.3(NF1):c.4790G>A (p.Gly1597Glu)
NM_001042492.3(NF1):c.4790G>C (p.Gly1597Ala)
NM_001042492.3(NF1):c.4790G>T (p.Gly1597Val) rs2067766230
NM_001042492.3(NF1):c.4791G>T (p.Gly1597=) rs1412795566
NM_001042492.3(NF1):c.4792A>G (p.Thr1598Ala)
NM_001042492.3(NF1):c.4793_4807del (p.Thr1598_Gly1602del)
NM_001042492.3(NF1):c.4795T>C (p.Ser1599Pro)
NM_001042492.3(NF1):c.4796C>A (p.Ser1599Tyr) rs1555619407
NM_001042492.3(NF1):c.4796C>G (p.Ser1599Cys) rs1555619407
NM_001042492.3(NF1):c.4796C>T (p.Ser1599Phe) rs1555619407
NM_001042492.3(NF1):c.480-2746A>G
NM_001042492.3(NF1):c.480-29A>G
NM_001042492.3(NF1):c.480-3del
NM_001042492.3(NF1):c.480-5T>C rs1555607069
NM_001042492.3(NF1):c.480-5T>G
NM_001042492.3(NF1):c.480-6T>G
NM_001042492.3(NF1):c.480-7T>C rs2143706752
NM_001042492.3(NF1):c.4801G>A (p.Ala1601Thr) rs754651519
NM_001042492.3(NF1):c.4801G>C (p.Ala1601Pro)
NM_001042492.3(NF1):c.4802C>A (p.Ala1601Asp) rs2151470269
NM_001042492.3(NF1):c.4804G>A (p.Gly1602Arg) rs878853898
NM_001042492.3(NF1):c.4805G>A (p.Gly1602Glu)
NM_001042492.3(NF1):c.4808A>G (p.Asn1603Ser) rs2067766672
NM_001042492.3(NF1):c.4808A>T (p.Asn1603Ile)
NM_001042492.3(NF1):c.480G>T (p.Arg160Ser) rs1555607071
NM_001042492.3(NF1):c.4811C>G (p.Pro1604Arg) rs2067766742
NM_001042492.3(NF1):c.4811C>T (p.Pro1604Leu) rs2067766742
NM_001042492.3(NF1):c.4813A>T (p.Ile1605Phe) rs199474766
NM_001042492.3(NF1):c.4814T>A (p.Ile1605Asn)
NM_001042492.3(NF1):c.4817T>C (p.Phe1606Ser)
NM_001042492.3(NF1):c.4819TAT[1] (p.Tyr1608del)
NM_001042492.3(NF1):c.4820A>G (p.Tyr1607Cys)
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.4825G>A (p.Val1609Ile) rs876658973
NM_001042492.3(NF1):c.4826T>C (p.Val1609Ala) rs876660303
NM_001042492.3(NF1):c.4828G>A (p.Ala1610Thr) rs2067767184
NM_001042492.3(NF1):c.4828G>T (p.Ala1610Ser) rs2067767184
NM_001042492.3(NF1):c.4829C>T (p.Ala1610Val)
NM_001042492.3(NF1):c.482T>C (p.Leu161Ser)
NM_001042492.3(NF1):c.4831C>T (p.Arg1611Trp) rs1060500316
NM_001042492.3(NF1):c.4832G>A (p.Arg1611Gln) rs876659197
NM_001042492.3(NF1):c.4834A>C (p.Arg1612=) rs755137259
NM_001042492.3(NF1):c.4834A>T (p.Arg1612Trp)
NM_001042492.3(NF1):c.4835+3_4835+10delinsT rs2067767641
NM_001042492.3(NF1):c.4835+4A>C
NM_001042492.3(NF1):c.4835+4A>G
NM_001042492.3(NF1):c.4835G>A (p.Arg1612Lys) rs1555619423
NM_001042492.3(NF1):c.4835G>C (p.Arg1612Thr) rs1555619423
NM_001042492.3(NF1):c.4835G>T (p.Arg1612Met) rs1555619423
NM_001042492.3(NF1):c.4836-15T>A rs2151537408
NM_001042492.3(NF1):c.4836-3T>A
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.4847G>A (p.Gly1616Asp) rs1597829516
NM_001042492.3(NF1):c.4849C>G (p.Gln1617Glu)
NM_001042492.3(NF1):c.484C>A (p.Gln162Lys) rs1555607073
NM_001042492.3(NF1):c.484C>G (p.Gln162Glu) rs1555607073
NM_001042492.3(NF1):c.4852A>G (p.Ile1618Val)
NM_001042492.3(NF1):c.4852A>T (p.Ile1618Phe) rs1208118952
NM_001042492.3(NF1):c.4856A>G (p.Asn1619Ser) rs1466167635
NM_001042492.3(NF1):c.4862A>C (p.Asp1621Ala) rs2151537564
NM_001042492.3(NF1):c.4865T>G (p.Leu1622Trp)
NM_001042492.3(NF1):c.4866G>T (p.Leu1622Phe)
NM_001042492.3(NF1):c.4868T>C (p.Leu1623Pro) rs2151537585
NM_001042492.3(NF1):c.4868T>G (p.Leu1623Arg)
NM_001042492.3(NF1):c.4871T>C (p.Ile1624Thr)
NM_001042492.3(NF1):c.4872A>G (p.Ile1624Met)
NM_001042492.3(NF1):c.487G>A (p.Glu163Lys)
NM_001042492.3(NF1):c.4880T>G (p.Val1627Gly) rs1567611231
NM_001042492.3(NF1):c.4881_4883del (p.Leu1629del)
NM_001042492.3(NF1):c.4884A>C (p.Leu1628Phe) rs2151537649
NM_001042492.3(NF1):c.4885C>G (p.Leu1629Val)
NM_001042492.3(NF1):c.4886T>C (p.Leu1629Pro) rs1555533288
NM_001042492.3(NF1):c.4889C>T (p.Thr1630Ile)
NM_001042492.3(NF1):c.488A>G (p.Glu163Gly)
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.4895A>G (p.Lys1632Arg) rs2069327086
NM_001042492.3(NF1):c.4897C>A (p.Pro1633Thr) rs1567611255
NM_001042492.3(NF1):c.4898C>T (p.Pro1633Leu)
NM_001042492.3(NF1):c.4900T>A (p.Tyr1634Asn)
NM_001042492.3(NF1):c.4903T>C (p.Tyr1635His)
NM_001042492.3(NF1):c.4903_4917dup (p.Tyr1635_Tyr1639dup) rs2069327013
NM_001042492.3(NF1):c.4904A>G (p.Tyr1635Cys) rs786202866
NM_001042492.3(NF1):c.4904A>T (p.Tyr1635Phe) rs786202866
NM_001042492.3(NF1):c.4916A>G (p.Tyr1639Cys)
NM_001042492.3(NF1):c.4921A>G (p.Ile1641Val) rs2151537768
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.4924G>T (p.Val1642Leu)
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.4929G>T (p.Val1643=) rs17880521
NM_001042492.3(NF1):c.4930G>C (p.Asp1644His) rs1131691123
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.4936A>T (p.Thr1646Ser)
NM_001042492.3(NF1):c.4937C>A (p.Thr1646Asn)
NM_001042492.3(NF1):c.4937C>T (p.Thr1646Ile) rs1597829686
NM_001042492.3(NF1):c.493A>G (p.Thr165Ala) rs786203186
NM_001042492.3(NF1):c.4940A>C (p.His1647Pro) rs1555533307
NM_001042492.3(NF1):c.4942A>C (p.Thr1648Pro)
NM_001042492.3(NF1):c.4942A>T (p.Thr1648Ser) rs770558820
NM_001042492.3(NF1):c.4945G>T (p.Gly1649Trp)
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.4949_4954del (p.Pro1650_Asn1652delinsHis) rs1567611339
NM_001042492.3(NF1):c.494C>G (p.Thr165Ser) rs876660009
NM_001042492.3(NF1):c.494C>T (p.Thr165Ile) rs876660009
NM_001042492.3(NF1):c.4951A>C (p.Ser1651Arg) rs1555533314
NM_001042492.3(NF1):c.4951A>G (p.Ser1651Gly) rs1555533314
NM_001042492.3(NF1):c.4951A>T (p.Ser1651Cys) rs1555533314
NM_001042492.3(NF1):c.4953C>G (p.Ser1651Arg)
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.4958G>T (p.Arg1653Leu) rs763413441
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.4970A>G (p.Asp1657Gly)
NM_001042492.3(NF1):c.4975C>G (p.Leu1659Val) rs786203709
NM_001042492.3(NF1):c.4975C>T (p.Leu1659Phe)
NM_001042492.3(NF1):c.4976T>C (p.Leu1659Pro) rs2151537955
NM_001042492.3(NF1):c.4978T>C (p.Ser1660Pro)
NM_001042492.3(NF1):c.4979C>G (p.Ser1660Cys) rs2069329686
NM_001042492.3(NF1):c.4979C>T (p.Ser1660Phe) rs2069329686
NM_001042492.3(NF1):c.497T>C (p.Val166Ala)
NM_001042492.3(NF1):c.4982A>T (p.Lys1661Met)
NM_001042492.3(NF1):c.4984T>A (p.Trp1662Arg) rs1555533328
NM_001042492.3(NF1):c.4984T>C (p.Trp1662Arg) rs1555533328
NM_001042492.3(NF1):c.4985G>C (p.Trp1662Ser) rs1567611375
NM_001042492.3(NF1):c.4985G>T (p.Trp1662Leu)
NM_001042492.3(NF1):c.4990G>T (p.Val1664Phe)
NM_001042492.3(NF1):c.4998T>A (p.Phe1666Leu) rs2151538054
NM_001042492.3(NF1):c.499T>G (p.Cys167Gly) rs2065903351
NM_001042492.3(NF1):c.5000C>T (p.Pro1667Leu)
NM_001042492.3(NF1):c.5001T>A (p.Pro1667=)
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.500G>C (p.Cys167Ser) rs2143707075
NM_001042492.3(NF1):c.5014G>A (p.Asp1672Asn) rs1483541195
NM_001042492.3(NF1):c.5015A>G (p.Asp1672Gly) rs1555533338
NM_001042492.3(NF1):c.5015A>T (p.Asp1672Val) rs1555533338
NM_001042492.3(NF1):c.5017_5019del (p.Asn1673del) rs2151538129
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.5024C>T (p.Ser1675Phe)
NM_001042492.3(NF1):c.5026G>T (p.Ala1676Ser) rs756450772
NM_001042492.3(NF1):c.5030T>A (p.Val1677Asp) rs1060500384
NM_001042492.3(NF1):c.5030T>C (p.Val1677Ala) rs1060500384
NM_001042492.3(NF1):c.5030TCTATA[3] (p.Ile1679_Tyr1680dup) rs1135402868
NM_001042492.3(NF1):c.5030_5031delinsAT (p.Val1677Asp)
NM_001042492.3(NF1):c.5032T>C (p.Tyr1678His) rs786203241
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.5036T>C (p.Ile1679Thr) rs2151538224
NM_001042492.3(NF1):c.5037C>G (p.Ile1679Met) rs1555533349
NM_001042492.3(NF1):c.5038T>G (p.Tyr1680Asp) rs2069331474
NM_001042492.3(NF1):c.5039A>C (p.Tyr1680Ser)
NM_001042492.3(NF1):c.5039A>G (p.Tyr1680Cys) rs758361270
NM_001042492.3(NF1):c.503C>T (p.Ser168Leu)
NM_001042492.3(NF1):c.5044T>C (p.Cys1682Arg) rs1597829901
NM_001042492.3(NF1):c.5050T>C (p.Ser1684Pro)
NM_001042492.3(NF1):c.5051C>G (p.Ser1684Cys) rs2151538280
NM_001042492.3(NF1):c.5055G>T (p.Trp1685Cys)
NM_001042492.3(NF1):c.5057T>A (p.Val1686Asp)
NM_001042492.3(NF1):c.5059A>G (p.Arg1687Gly) rs746461616
NM_001042492.3(NF1):c.5060G>A (p.Arg1687Lys) rs2151538312
NM_001042492.3(NF1):c.5060G>C (p.Arg1687Thr)
NM_001042492.3(NF1):c.5060_5069delinsTGTA (p.Arg1687_Thr1690delinsMetTyr)
NM_001042492.3(NF1):c.5061G>C (p.Arg1687Ser) rs2069332144
NM_001042492.3(NF1):c.5064G>T (p.Glu1688Asp) rs587781693
NM_001042492.3(NF1):c.5066A>G (p.Tyr1689Cys)
NM_001042492.3(NF1):c.5068A>C (p.Thr1690Pro) rs2069332520
NM_001042492.3(NF1):c.5069_5070insTTG (p.Thr1690_Lys1691insCys)
NM_001042492.3(NF1):c.5071A>G (p.Lys1691Glu)
NM_001042492.3(NF1):c.5072A>C (p.Lys1691Thr) rs863224661
NM_001042492.3(NF1):c.5072A>G (p.Lys1691Arg) rs863224661
NM_001042492.3(NF1):c.5073G>C (p.Lys1691Asn) rs1597829953
NM_001042492.3(NF1):c.5073G>T (p.Lys1691Asn)
NM_001042492.3(NF1):c.5074T>A (p.Tyr1692Asn) rs1597829956
NM_001042492.3(NF1):c.5075A>G (p.Tyr1692Cys)
NM_001042492.3(NF1):c.5077C>A (p.His1693Asn) rs2069332893
NM_001042492.3(NF1):c.5078A>G (p.His1693Arg) rs2151538392
NM_001042492.3(NF1):c.507A>C (p.Glu169Asp)
NM_001042492.3(NF1):c.5083C>T (p.Arg1695Trp) rs1567611500
NM_001042492.3(NF1):c.5084G>A (p.Arg1695Gln) rs1555533367
NM_001042492.3(NF1):c.508G>T (p.Asp170Tyr) rs2065903486
NM_001042492.3(NF1):c.5092A>T (p.Thr1698Ser) rs876659017
NM_001042492.3(NF1):c.5093C>G (p.Thr1698Ser) rs769469854
NM_001042492.3(NF1):c.5093C>T (p.Thr1698Ile)
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.5096G>C (p.Gly1699Ala) rs2069333669
NM_001042492.3(NF1):c.5096G>T (p.Gly1699Val) rs2069333669
NM_001042492.3(NF1):c.5101A>C (p.Lys1701Gln) rs876659279
NM_001042492.3(NF1):c.5101A>G (p.Lys1701Glu)
NM_001042492.3(NF1):c.5102A>C (p.Lys1701Thr) rs1597830021
NM_001042492.3(NF1):c.5102A>T (p.Lys1701Ile) rs1597830021
NM_001042492.3(NF1):c.5104G>A (p.Gly1702Ser)
NM_001042492.3(NF1):c.5105G>A (p.Gly1702Asp) rs2069333953
NM_001042492.3(NF1):c.5107A>G (p.Ser1703Gly) rs1555533374
NM_001042492.3(NF1):c.5108G>A (p.Ser1703Asn) rs876660159
NM_001042492.3(NF1):c.5108G>C (p.Ser1703Thr) rs876660159
NM_001042492.3(NF1):c.510C>A (p.Asp170Glu) rs1597643788
NM_001042492.3(NF1):c.510C>G (p.Asp170Glu)
NM_001042492.3(NF1):c.5110A>G (p.Lys1704Glu)
NM_001042492.3(NF1):c.5111A>G (p.Lys1704Arg)
NM_001042492.3(NF1):c.5113A>G (p.Arg1705Gly)
NM_001042492.3(NF1):c.5114G>A (p.Arg1705Lys) rs876660487
NM_001042492.3(NF1):c.5115G>T (p.Arg1705Ser)
NM_001042492.3(NF1):c.5119G>A (p.Val1707Ile) rs1302949776
NM_001042492.3(NF1):c.511A>C (p.Asn171His) rs1597643796
NM_001042492.3(NF1):c.511A>G (p.Asn171Asp) rs1597643796
NM_001042492.3(NF1):c.5123T>G (p.Phe1708Cys) rs1597830056
NM_001042492.3(NF1):c.5126T>A (p.Ile1709Lys) rs876660316
NM_001042492.3(NF1):c.5126T>G (p.Ile1709Arg) rs876660316
NM_001042492.3(NF1):c.5128G>A (p.Asp1710Asn) rs1428709938
NM_001042492.3(NF1):c.512A>C (p.Asn171Thr) rs767500770
NM_001042492.3(NF1):c.512A>T (p.Asn171Ile)
NM_001042492.3(NF1):c.5132G>C (p.Cys1711Ser) rs1567611549
NM_001042492.3(NF1):c.5132G>T (p.Cys1711Phe) rs1567611549
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.5137G>C (p.Gly1713Arg) rs2151538644
NM_001042492.3(NF1):c.5140A>G (p.Lys1714Glu) rs1597830089
NM_001042492.3(NF1):c.5141A>C (p.Lys1714Thr) rs2069334864
NM_001042492.3(NF1):c.5142A>C (p.Lys1714Asn) rs1555533379
NM_001042492.3(NF1):c.5142A>G (p.Lys1714=) rs1555533379
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.514G>A (p.Val172Ile) rs1555607083
NM_001042492.3(NF1):c.5152C>G (p.His1718Asp)
NM_001042492.3(NF1):c.5152C>T (p.His1718Tyr) rs1555533381
NM_001042492.3(NF1):c.5155A>C (p.Ile1719Leu)
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.5158G>A (p.Glu1720Lys)
NM_001042492.3(NF1):c.5158G>C (p.Glu1720Gln)
NM_001042492.3(NF1):c.5160G>C (p.Glu1720Asp) rs773378630
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.5163T>G (p.His1721Gln) rs267604792
NM_001042492.3(NF1):c.5164G>A (p.Glu1722Lys)
NM_001042492.3(NF1):c.5166A>T (p.Glu1722Asp) rs1597830174
NM_001042492.3(NF1):c.5168A>G (p.Gln1723Arg)
NM_001042492.3(NF1):c.5169A>T (p.Gln1723His) rs864622372
NM_001042492.3(NF1):c.5170C>G (p.Gln1724Glu) rs1567611587
NM_001042492.3(NF1):c.5175A>T (p.Lys1725Asn)
NM_001042492.3(NF1):c.5176C>T (p.Leu1726=)
NM_001042492.3(NF1):c.5177T>G (p.Leu1726Arg) rs2151538809
NM_001042492.3(NF1):c.5179C>T (p.Pro1727Ser)
NM_001042492.3(NF1):c.5180C>G (p.Pro1727Arg) rs2069336255
NM_001042492.3(NF1):c.5180C>T (p.Pro1727Leu)
NM_001042492.3(NF1):c.5185G>C (p.Ala1729Pro)
NM_001042492.3(NF1):c.5186C>T (p.Ala1729Val)
NM_001042492.3(NF1):c.5188A>C (p.Thr1730Pro)
NM_001042492.3(NF1):c.5188A>G (p.Thr1730Ala)
NM_001042492.3(NF1):c.5189C>G (p.Thr1730Ser) rs772831692
NM_001042492.3(NF1):c.5189C>T (p.Thr1730Ile) rs772831692
NM_001042492.3(NF1):c.518A>T (p.Asp173Val) rs1597643820
NM_001042492.3(NF1):c.5191T>A (p.Leu1731Met) rs876658602
NM_001042492.3(NF1):c.5191T>G (p.Leu1731Val) rs876658602
NM_001042492.3(NF1):c.5193_5194insAATGCCACCTTG (p.Leu1731_Ala1732insAsnAlaThrLeu) rs2151538831
NM_001042492.3(NF1):c.5194G>A (p.Ala1732Thr) rs2069336671
NM_001042492.3(NF1):c.5195C>G (p.Ala1732Gly) rs202037436
NM_001042492.3(NF1):c.519_520insCAA (p.Asp173_Val174insGln) rs2143707301
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>A (p.Leu1737Gln)
NM_001042492.3(NF1):c.5210T>C (p.Leu1737Pro)
NM_001042492.3(NF1):c.5212A>G (p.Lys1738Glu) rs2069337096
NM_001042492.3(NF1):c.5215G>A (p.Val1739Ile)
NM_001042492.3(NF1):c.5215G>C (p.Val1739Leu) rs876659956
NM_001042492.3(NF1):c.5217A>T (p.Val1739=)
NM_001042492.3(NF1):c.5221C>A (p.His1741Asn) rs780529277
NM_001042492.3(NF1):c.5221C>G (p.His1741Asp)
NM_001042492.3(NF1):c.5221C>T (p.His1741Tyr) rs780529277
NM_001042492.3(NF1):c.5222A>T (p.His1741Leu) rs1555533402
NM_001042492.3(NF1):c.5224A>G (p.Asn1742Asp) rs2069337415
NM_001042492.3(NF1):c.5226_5234del (p.Asn1742_Leu1744del)
NM_001042492.3(NF1):c.5227G>C (p.Ala1743Pro) rs878853900
NM_001042492.3(NF1):c.5227G>T (p.Ala1743Ser)
NM_001042492.3(NF1):c.5228C>G (p.Ala1743Gly)
NM_001042492.3(NF1):c.5230C>T (p.Leu1744Phe) rs1555533407
NM_001042492.3(NF1):c.5233A>C (p.Lys1745Gln) rs2151538985
NM_001042492.3(NF1):c.5236C>A (p.Leu1746Ile)
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.524A>G (p.His175Arg)
NM_001042492.3(NF1):c.5252C>A (p.Thr1751Asn)
NM_001042492.3(NF1):c.5252C>T (p.Thr1751Ile)
NM_001042492.3(NF1):c.5253C>A (p.Thr1751=) rs768884582
NM_001042492.3(NF1):c.5253C>G (p.Thr1751=)
NM_001042492.3(NF1):c.5254A>G (p.Lys1752Glu) rs2069338262
NM_001042492.3(NF1):c.5257G>C (p.Val1753Leu) rs148540952
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.5264T>G (p.Ile1755Ser)
NM_001042492.3(NF1):c.5267A>C (p.Lys1756Thr)
NM_001042492.3(NF1):c.5268+2T>A
NM_001042492.3(NF1):c.5268+2dup
NM_001042492.3(NF1):c.5268+3A>C
NM_001042492.3(NF1):c.5268+3A>T
NM_001042492.3(NF1):c.5268+4A>G rs1555533418
NM_001042492.3(NF1):c.5268+5del
NM_001042492.3(NF1):c.5269-11C>G
NM_001042492.3(NF1):c.5269-14C>G rs753463683
NM_001042492.3(NF1):c.5269-19C>A rs755620051
NM_001042492.3(NF1):c.5269-3C>G
NM_001042492.3(NF1):c.5269G>T (p.Val1757Phe)
NM_001042492.3(NF1):c.526G>T (p.Asp176Tyr)
NM_001042492.3(NF1):c.5270T>A (p.Val1757Asp) rs1021835871
NM_001042492.3(NF1):c.5271T>A (p.Val1757=) rs1399095966
NM_001042492.3(NF1):c.5273G>A (p.Gly1758Asp) rs1358882546
NM_001042492.3(NF1):c.5273G>C (p.Gly1758Ala) rs1358882546
NM_001042492.3(NF1):c.5275T>C (p.Ser1759Pro) rs2069375050
NM_001042492.3(NF1):c.5275T>G (p.Ser1759Ala) rs2069375050
NM_001042492.3(NF1):c.5276C>A (p.Ser1759Tyr)
NM_001042492.3(NF1):c.5278A>G (p.Thr1760Ala)
NM_001042492.3(NF1):c.527A>G (p.Asp176Gly) rs1567820732
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>G (p.Ala1761Gly) rs2069375331
NM_001042492.3(NF1):c.5282C>T (p.Ala1761Val)
NM_001042492.3(NF1):c.5283_5300del (p.Val1762_Ala1767del)
NM_001042492.3(NF1):c.5284G>A (p.Val1762Ile) rs1060500290
NM_001042492.3(NF1):c.5285T>A (p.Val1762Asp) rs1555533550
NM_001042492.3(NF1):c.5285T>C (p.Val1762Ala) rs1555533550
NM_001042492.3(NF1):c.5287C>G (p.Gln1763Glu)
NM_001042492.3(NF1):c.5290G>T (p.Val1764Leu) rs778427434
NM_001042492.3(NF1):c.5294C>T (p.Thr1765Ile) rs2151540847
NM_001042492.3(NF1):c.5299G>A (p.Ala1767Thr) rs529905904
NM_001042492.3(NF1):c.5299G>T (p.Ala1767Ser) rs529905904
NM_001042492.3(NF1):c.529A>C (p.Ile177Leu)
NM_001042492.3(NF1):c.5303A>G (p.Glu1768Gly) rs2151540883
NM_001042492.3(NF1):c.5304G>C (p.Glu1768Asp) rs2069376025
NM_001042492.3(NF1):c.5305C>G (p.Arg1769Gly)
NM_001042492.3(NF1):c.5306G>A (p.Arg1769Gln) rs1555533559
NM_001042492.3(NF1):c.5306G>C (p.Arg1769Pro)
NM_001042492.3(NF1):c.5310A>C (p.Thr1770=) rs2069376282
NM_001042492.3(NF1):c.5314G>A (p.Val1772Ile)
NM_001042492.3(NF1):c.5314G>C (p.Val1772Leu) rs1567612377
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.5324A>T (p.Gln1775Leu)
NM_001042492.3(NF1):c.5328_5329delinsTA (p.Val1777Ile) rs2069377113
NM_001042492.3(NF1):c.5329G>A (p.Val1777Ile) rs876658562
NM_001042492.3(NF1):c.5329G>T (p.Val1777Phe) rs876658562
NM_001042492.3(NF1):c.5332T>C (p.Phe1778Leu)
NM_001042492.3(NF1):c.5336T>G (p.Leu1779Arg) rs2151541015
NM_001042492.3(NF1):c.5339A>G (p.Asn1780Ser) rs1411525800
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.5350T>A (p.Tyr1784Asn)
NM_001042492.3(NF1):c.5350T>G (p.Tyr1784Asp) rs2151541060
NM_001042492.3(NF1):c.5351A>C (p.Tyr1784Ser) rs1060500280
NM_001042492.3(NF1):c.5351A>G (p.Tyr1784Cys) rs1060500280
NM_001042492.3(NF1):c.5353G>A (p.Ala1785Thr)
NM_001042492.3(NF1):c.5353G>T (p.Ala1785Ser) rs199474782
NM_001042492.3(NF1):c.5360A>C (p.Glu1787Ala) rs1555533570
NM_001042492.3(NF1):c.5361A>C (p.Glu1787Asp) rs2151541092
NM_001042492.3(NF1):c.5362A>G (p.Ile1788Val) rs2069378035
NM_001042492.3(NF1):c.5363T>C (p.Ile1788Thr) rs2069378120
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.5371A>T (p.Ile1791Phe) rs2151541120
NM_001042492.3(NF1):c.5373C>G (p.Ile1791Met) rs1597831996
NM_001042492.3(NF1):c.5375G>C (p.Cys1792Ser)
NM_001042492.3(NF1):c.5375G>T (p.Cys1792Phe) rs1263046457
NM_001042492.3(NF1):c.5377C>A (p.Leu1793Ile) rs761676110
NM_001042492.3(NF1):c.5378T>C (p.Leu1793Pro)
NM_001042492.3(NF1):c.537G>T (p.Leu179Phe)
NM_001042492.3(NF1):c.5380G>A (p.Val1794Ile) rs1555533574
NM_001042492.3(NF1):c.5381T>G (p.Val1794Gly)
NM_001042492.3(NF1):c.5384A>G (p.Asp1795Gly) rs1567612446
NM_001042492.3(NF1):c.5384_5410del (p.Asp1795_Ile1803del) rs2069378982
NM_001042492.3(NF1):c.5385T>A (p.Asp1795Glu) rs1135402870
NM_001042492.3(NF1):c.5385T>G (p.Asp1795Glu) rs1135402870
NM_001042492.3(NF1):c.5389A>G (p.Asn1797Asp)
NM_001042492.3(NF1):c.5390A>G (p.Asn1797Ser)
NM_001042492.3(NF1):c.5391_5393dup (p.Asn1797_Gln1798insHis)
NM_001042492.3(NF1):c.5407A>C (p.Ile1803Leu)
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.5410G>A (p.Ala1804Thr) rs2151541269
NM_001042492.3(NF1):c.5411C>G (p.Ala1804Gly)
NM_001042492.3(NF1):c.5413A>G (p.Asn1805Asp) rs1287561681
NM_001042492.3(NF1):c.5419G>A (p.Gly1807Ser) rs1443729188
NM_001042492.3(NF1):c.5419G>T (p.Gly1807Cys)
NM_001042492.3(NF1):c.5421C>T (p.Gly1807=) rs1060500279
NM_001042492.3(NF1):c.5422A>G (p.Thr1808Ala)
NM_001042492.3(NF1):c.5423C>A (p.Thr1808Lys) rs760649828
NM_001042492.3(NF1):c.5427G>A (p.Pro1809=) rs1281695642
NM_001042492.3(NF1):c.5428C>T (p.Leu1810Phe)
NM_001042492.3(NF1):c.5429T>C (p.Leu1810Pro)
NM_001042492.3(NF1):c.542A>G (p.Gln181Arg) rs2065904138
NM_001042492.3(NF1):c.5431A>G (p.Thr1811Ala)
NM_001042492.3(NF1):c.5432C>T (p.Thr1811Ile) rs2151541340
NM_001042492.3(NF1):c.5434T>C (p.Phe1812Leu) rs2069380487
NM_001042492.3(NF1):c.5438T>C (p.Met1813Thr)
NM_001042492.3(NF1):c.5439G>T (p.Met1813Ile)
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.5443C>G (p.Gln1815Glu) rs1555533587
NM_001042492.3(NF1):c.5447A>G (p.Glu1816Gly)
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.545A>T (p.Tyr182Phe)
NM_001042492.3(NF1):c.5461G>A (p.Val1821Ile)
NM_001042492.3(NF1):c.5461G>C (p.Val1821Leu) rs1597832135
NM_001042492.3(NF1):c.5462T>C (p.Val1821Ala) rs2151541436
NM_001042492.3(NF1):c.5462T>G (p.Val1821Gly)
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.5468C>A (p.Ser1823Tyr)
NM_001042492.3(NF1):c.5471T>G (p.Ile1824Ser)
NM_001042492.3(NF1):c.5473A>G (p.Ile1825Val) rs2069381682
NM_001042492.3(NF1):c.5476C>G (p.His1826Asp) rs1135402871
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>C (p.Ile1827Thr) rs1555533605
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>G (p.Arg1828Gly) rs1555533609
NM_001042492.3(NF1):c.5482C>T (p.Arg1828Trp) rs1555533609
NM_001042492.3(NF1):c.5483G>A (p.Arg1828Gln) rs876660298
NM_001042492.3(NF1):c.5483G>C (p.Arg1828Pro)
NM_001042492.3(NF1):c.5486C>A (p.Thr1829Asn)
NM_001042492.3(NF1):c.5489G>A (p.Arg1830His) rs771529172
NM_001042492.3(NF1):c.548T>A (p.Ile183Asn) rs2143707759
NM_001042492.3(NF1):c.5491T>C (p.Trp1831Arg) rs2069382435
NM_001042492.3(NF1):c.5491T>G (p.Trp1831Gly) rs2069382435
NM_001042492.3(NF1):c.5493G>C (p.Trp1831Cys)
NM_001042492.3(NF1):c.5494G>A (p.Glu1832Lys) rs2069382639
NM_001042492.3(NF1):c.5494G>C (p.Glu1832Gln)
NM_001042492.3(NF1):c.5497C>G (p.Leu1833Val) rs372932380
NM_001042492.3(NF1):c.5498T>C (p.Leu1833Pro) rs2151541565
NM_001042492.3(NF1):c.549C>G (p.Ile183Met) rs1597643884
NM_001042492.3(NF1):c.5503C>A (p.Gln1835Lys)
NM_001042492.3(NF1):c.5503C>G (p.Gln1835Glu) rs786202177
NM_001042492.3(NF1):c.5504A>G (p.Gln1835Arg) rs876660025
NM_001042492.3(NF1):c.5505G>T (p.Gln1835His) rs1555533615
NM_001042492.3(NF1):c.5509G>C (p.Asp1837His) rs771597781
NM_001042492.3(NF1):c.5510_5518del (p.Asp1837_Pro1840delinsAla) rs876660622
NM_001042492.3(NF1):c.5512T>C (p.Ser1838Pro) rs1555533619
NM_001042492.3(NF1):c.5515A>C (p.Ile1839Leu)
NM_001042492.3(NF1):c.5515A>G (p.Ile1839Val) rs2151541625
NM_001042492.3(NF1):c.5516T>C (p.Ile1839Thr) rs1597832296
NM_001042492.3(NF1):c.5518C>A (p.Pro1840Thr)
NM_001042492.3(NF1):c.5519C>G (p.Pro1840Arg)
NM_001042492.3(NF1):c.551A>T (p.Asn184Ile)
NM_001042492.3(NF1):c.5521C>A (p.Gln1841Lys) rs786203570
NM_001042492.3(NF1):c.5522A>G (p.Gln1841Arg)
NM_001042492.3(NF1):c.5523A>T (p.Gln1841His) rs151046636
NM_001042492.3(NF1):c.5524C>A (p.His1842Asn)
NM_001042492.3(NF1):c.5524C>G (p.His1842Asp) rs1597832336
NM_001042492.3(NF1):c.5524C>T (p.His1842Tyr)
NM_001042492.3(NF1):c.5525A>G (p.His1842Arg) rs876660928
NM_001042492.3(NF1):c.5528C>A (p.Thr1843Asn)
NM_001042492.3(NF1):c.5528C>T (p.Thr1843Ile) rs1567612632
NM_001042492.3(NF1):c.5530A>G (p.Lys1844Glu)
NM_001042492.3(NF1):c.5531A>G (p.Lys1844Arg) rs2069383981
NM_001042492.3(NF1):c.5532G>T (p.Lys1844Asn) rs2151541680
NM_001042492.3(NF1):c.5533A>T (p.Ile1845Phe) rs1567612641
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.5537G>T (p.Arg1846Leu)
NM_001042492.3(NF1):c.5539C>A (p.Pro1847Thr) rs2069384394
NM_001042492.3(NF1):c.5539C>G (p.Pro1847Ala) rs2069384394
NM_001042492.3(NF1):c.5539C>T (p.Pro1847Ser) rs2069384394
NM_001042492.3(NF1):c.553G>A (p.Val185Met)
NM_001042492.3(NF1):c.553G>T (p.Val185Leu)
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.5546A>T (p.Asp1849Val) rs1170679293
NM_001042492.3(NF1):c.5548G>A (p.Val1850Ile) rs1597832397
NM_001042492.3(NF1):c.5548G>T (p.Val1850Phe) rs1597832397
NM_001042492.3(NF1):c.5549T>A (p.Val1850Asp) rs1555533637
NM_001042492.3(NF1):c.5549T>C (p.Val1850Ala) rs1555533637
NM_001042492.3(NF1):c.5549T>G (p.Val1850Gly) rs1555533637
NM_001042492.3(NF1):c.5551_5552delinsTT (p.Pro1851Phe) rs2151541748
NM_001042492.3(NF1):c.5552C>G (p.Pro1851Arg) rs1555533638
NM_001042492.3(NF1):c.5552C>T (p.Pro1851Leu) rs1555533638
NM_001042492.3(NF1):c.5554G>A (p.Gly1852Arg) rs1436590774
NM_001042492.3(NF1):c.5558C>G (p.Thr1853Arg) rs2069385223
NM_001042492.3(NF1):c.5561T>A (p.Leu1854Gln) rs878853903
NM_001042492.3(NF1):c.5563C>T (p.Leu1855Phe) rs2069385474
NM_001042492.3(NF1):c.5564T>A (p.Leu1855His) rs2069385520
NM_001042492.3(NF1):c.5564T>C (p.Leu1855Pro) rs2069385520
NM_001042492.3(NF1):c.5566A>G (p.Asn1856Asp)
NM_001042492.3(NF1):c.5569A>G (p.Ile1857Val)
NM_001042492.3(NF1):c.556G>T (p.Asp186Tyr) rs1567820765
NM_001042492.3(NF1):c.5571C>G (p.Ile1857Met) rs771837192
NM_001042492.3(NF1):c.5572G>A (p.Ala1858Thr) rs786203416
NM_001042492.3(NF1):c.5572G>T (p.Ala1858Ser) rs786203416
NM_001042492.3(NF1):c.5577A>C (p.Leu1859Phe) rs876659180
NM_001042492.3(NF1):c.5578C>A (p.Leu1860Ile) rs746689492
NM_001042492.3(NF1):c.5582A>G (p.Asn1861Ser) rs1555533647
NM_001042492.3(NF1):c.5582A>T (p.Asn1861Ile) rs1555533647
NM_001042492.3(NF1):c.5587G>A (p.Gly1863Ser) rs1060500332
NM_001042492.3(NF1):c.5588G>A (p.Gly1863Asp) rs1597832460
NM_001042492.3(NF1):c.5590A>T (p.Ser1864Cys) rs2151541898
NM_001042492.3(NF1):c.5591G>A (p.Ser1864Asn) rs1567612716
NM_001042492.3(NF1):c.5591G>C (p.Ser1864Thr) rs1567612716
NM_001042492.3(NF1):c.5591G>T (p.Ser1864Ile)
NM_001042492.3(NF1):c.5594C>G (p.Ser1865Cys)
NM_001042492.3(NF1):c.5597A>G (p.Asp1866Gly)
NM_001042492.3(NF1):c.559T>A (p.Cys187Ser)
NM_001042492.3(NF1):c.5600C>T (p.Pro1867Leu)
NM_001042492.3(NF1):c.5605T>A (p.Leu1869Ile)
NM_001042492.3(NF1):c.5608C>A (p.Arg1870=) rs1049849034
NM_001042492.3(NF1):c.5608C>G (p.Arg1870Gly)
NM_001042492.3(NF1):c.5608C>T (p.Arg1870Trp)
NM_001042492.3(NF1):c.5609+3A>G rs2151541987
NM_001042492.3(NF1):c.5609+3A>T rs2151541987
NM_001042492.3(NF1):c.5609+4G>A
NM_001042492.3(NF1):c.5609+4G>C rs2069386889
NM_001042492.3(NF1):c.5609+5G>T rs1597832498
NM_001042492.3(NF1):c.5609G>C (p.Arg1870Pro)
NM_001042492.3(NF1):c.5610-13T>G
NM_001042492.3(NF1):c.5610-15T>G
NM_001042492.3(NF1):c.5610-17T>G
NM_001042492.3(NF1):c.5610-3T>C rs2069447812
NM_001042492.3(NF1):c.5610-5C>G rs2151544379
NM_001042492.3(NF1):c.5615C>T (p.Ala1872Val)
NM_001042492.3(NF1):c.5617G>A (p.Ala1873Thr) rs1597834618
NM_001042492.3(NF1):c.5619C>G (p.Ala1873=) rs786203335
NM_001042492.3(NF1):c.5621A>T (p.Tyr1874Phe)
NM_001042492.3(NF1):c.5625T>A (p.Asn1875Lys) rs1275173622
NM_001042492.3(NF1):c.5625TCT[1] (p.Leu1877del) rs1131691081
NM_001042492.3(NF1):c.5627T>C (p.Leu1876Pro)
NM_001042492.3(NF1):c.562G>A (p.Ala188Thr) rs778975931
NM_001042492.3(NF1):c.562G>C (p.Ala188Pro)
NM_001042492.3(NF1):c.5630T>G (p.Leu1877Arg) rs2069448419
NM_001042492.3(NF1):c.5636C>T (p.Ala1879Val) rs1555533845
NM_001042492.3(NF1):c.5639T>C (p.Leu1880Ser) rs1567613595
NM_001042492.3(NF1):c.563C>A (p.Ala188Glu) rs1060500309
NM_001042492.3(NF1):c.5641A>C (p.Thr1881Pro)
NM_001042492.3(NF1):c.5642C>A (p.Thr1881Asn) rs876658349
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.5646T>G (p.Cys1882Trp) rs1597834659
NM_001042492.3(NF1):c.5648C>T (p.Thr1883Ile)
NM_001042492.3(NF1):c.5650T>G (p.Phe1884Val) rs1060500378
NM_001042492.3(NF1):c.5651T>G (p.Phe1884Cys)
NM_001042492.3(NF1):c.5654A>G (p.Asn1885Ser)
NM_001042492.3(NF1):c.5654A>T (p.Asn1885Ile)
NM_001042492.3(NF1):c.5661A>G (p.Lys1887=) rs149759456
NM_001042492.3(NF1):c.5662A>T (p.Ile1888Phe) rs863224662
NM_001042492.3(NF1):c.5668G>A (p.Gly1890Ser)
NM_001042492.3(NF1):c.5668G>T (p.Gly1890Cys) rs1597834706
NM_001042492.3(NF1):c.5669G>A (p.Gly1890Asp)
NM_001042492.3(NF1):c.5669G>T (p.Gly1890Val) rs1567613630
NM_001042492.3(NF1):c.5671C>G (p.Gln1891Glu)
NM_001042492.3(NF1):c.5672A>C (p.Gln1891Pro)
NM_001042492.3(NF1):c.5673G>T (p.Gln1891His) rs1555533857
NM_001042492.3(NF1):c.5676A>C (p.Leu1892Phe) rs876658130
NM_001042492.3(NF1):c.5676A>T (p.Leu1892Phe)
NM_001042492.3(NF1):c.5677C>G (p.Leu1893Val)
NM_001042492.3(NF1):c.5681A>G (p.Glu1894Gly)
NM_001042492.3(NF1):c.5682_5683delinsCT (p.Glu1894_Thr1895delinsAspSer) rs2151544601
NM_001042492.3(NF1):c.5689G>A (p.Gly1897Ser) rs368201829
NM_001042492.3(NF1):c.5690G>T (p.Gly1897Val) rs1597834751
NM_001042492.3(NF1):c.5694A>G (p.Leu1898=) rs1555533863
NM_001042492.3(NF1):c.5699T>C (p.Ile1900Thr)
NM_001042492.3(NF1):c.5702C>T (p.Pro1901Leu) rs2069451171
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.570A>T (p.Leu190Phe) rs2143708067
NM_001042492.3(NF1):c.5711A>C (p.Asn1904Thr) rs864622647
NM_001042492.3(NF1):c.5711A>G (p.Asn1904Ser) rs864622647
NM_001042492.3(NF1):c.5719T>C (p.Phe1907Leu) rs876660040
NM_001042492.3(NF1):c.5720T>A (p.Phe1907Tyr) rs1567613677
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.5729C>T (p.Ser1910Phe) rs751904277
NM_001042492.3(NF1):c.572A>C (p.Lys191Thr) rs1555607113
NM_001042492.3(NF1):c.5731A>T (p.Ile1911Phe)
NM_001042492.3(NF1):c.5732T>A (p.Ile1911Asn) rs1597834839
NM_001042492.3(NF1):c.5732T>C (p.Ile1911Thr) rs1597834839
NM_001042492.3(NF1):c.5733_5734delinsAC (p.Ser1912Arg) rs2069452266
NM_001042492.3(NF1):c.5734_5735insATA (p.Ile1911_Ser1912insAsn)
NM_001042492.3(NF1):c.5735G>A (p.Ser1912Asn)
NM_001042492.3(NF1):c.5736T>G (p.Ser1912Arg)
NM_001042492.3(NF1):c.5738_5740dup (p.Lys1913_Thr1914insLys)
NM_001042492.3(NF1):c.5740A>C (p.Thr1914Pro) rs2069452483
NM_001042492.3(NF1):c.5741C>A (p.Thr1914Lys) rs1555533873
NM_001042492.3(NF1):c.5742A>G (p.Thr1914=)
NM_001042492.3(NF1):c.5743C>G (p.Leu1915Val)
NM_001042492.3(NF1):c.5746G>C (p.Ala1916Pro) rs62070718
NM_001042492.3(NF1):c.5746G>T (p.Ala1916Ser) rs62070718
NM_001042492.3(NF1):c.5747C>T (p.Ala1916Val)
NM_001042492.3(NF1):c.5750C>A (p.Ala1917Asp) rs2069452996
NM_001042492.3(NF1):c.5750C>G (p.Ala1917Gly) rs2069452996
NM_001042492.3(NF1):c.5752A>C (p.Asn1918His) rs750915711
NM_001042492.3(NF1):c.5752A>G (p.Asn1918Asp)
NM_001042492.3(NF1):c.5755G>A (p.Glu1919Lys) rs1227869359
NM_001042492.3(NF1):c.5756A>T (p.Glu1919Val)
NM_001042492.3(NF1):c.5762A>G (p.His1921Arg) rs2151544881
NM_001042492.3(NF1):c.5764C>T (p.Leu1922Phe) rs1597834892
NM_001042492.3(NF1):c.5768C>A (p.Thr1923Lys) rs786203824
NM_001042492.3(NF1):c.5768C>G (p.Thr1923Arg) rs786203824
NM_001042492.3(NF1):c.5773G>C (p.Glu1925Gln)
NM_001042492.3(NF1):c.5775A>T (p.Glu1925Asp) rs2151544922
NM_001042492.3(NF1):c.5780T>G (p.Leu1927Trp) rs2151544934
NM_001042492.3(NF1):c.5783A>G (p.Glu1928Gly) rs2069453957
NM_001042492.3(NF1):c.5785G>A (p.Glu1929Lys) rs2069454068
NM_001042492.3(NF1):c.5785G>C (p.Glu1929Gln)
NM_001042492.3(NF1):c.5786A>C (p.Glu1929Ala)
NM_001042492.3(NF1):c.5787G>C (p.Glu1929Asp) rs786202591
NM_001042492.3(NF1):c.5787G>T (p.Glu1929Asp) rs786202591
NM_001042492.3(NF1):c.5788T>A (p.Cys1930Ser) rs2069454402
NM_001042492.3(NF1):c.5789G>A (p.Cys1930Tyr) rs755138009
NM_001042492.3(NF1):c.5792T>A (p.Ile1931Asn)
NM_001042492.3(NF1):c.5797G>A (p.Gly1933Arg)
NM_001042492.3(NF1):c.5800T>A (p.Phe1934Ile)
NM_001042492.3(NF1):c.5800T>C (p.Phe1934Leu) rs2151544983
NM_001042492.3(NF1):c.5801T>G (p.Phe1934Cys) rs2151544987
NM_001042492.3(NF1):c.5807A>G (p.Lys1936Arg) rs2069454728
NM_001042492.3(NF1):c.5810C>A (p.Ser1937Tyr)
NM_001042492.3(NF1):c.5812+2dup rs1597834973
NM_001042492.3(NF1):c.5812+3A>C rs1597834976
NM_001042492.3(NF1):c.5812+3A>G rs1597834976
NM_001042492.3(NF1):c.5812+3_5812+4del rs1555533888
NM_001042492.3(NF1):c.5812+489C>G
NM_001042492.3(NF1):c.5812+4A>G
NM_001042492.3(NF1):c.5812+5G>T
NM_001042492.3(NF1):c.5812+5_5812+8del
NM_001042492.3(NF1):c.5812+6T>G rs1555533893
NM_001042492.3(NF1):c.5812A>G (p.Ser1938Gly) rs1555533885
NM_001042492.3(NF1):c.5813-1042A>G
NM_001042492.3(NF1):c.5813-3C>T rs2151550224
NM_001042492.3(NF1):c.5813-5T>C rs2151550215
NM_001042492.3(NF1):c.5813G>A (p.Ser1938Asn) rs906075234
NM_001042492.3(NF1):c.5814_5815insTTTTT (p.Ile1939fs) rs1481408918
NM_001042492.3(NF1):c.5815A>G (p.Ile1939Val) rs1173859882
NM_001042492.3(NF1):c.5815A>T (p.Ile1939Phe) rs1173859882
NM_001042492.3(NF1):c.5816T>C (p.Ile1939Thr) rs1304057833
NM_001042492.3(NF1):c.5816T>G (p.Ile1939Ser) rs1304057833
NM_001042492.3(NF1):c.5825A>G (p.Lys1942Arg) rs2069601534
NM_001042492.3(NF1):c.5831T>C (p.Leu1944Pro) rs2069601725
NM_001042492.3(NF1):c.5834G>A (p.Cys1945Tyr)
NM_001042492.3(NF1):c.5836T>A (p.Leu1946Met) rs1422333640
NM_001042492.3(NF1):c.5836T>G (p.Leu1946Val)
NM_001042492.3(NF1):c.5837T>G (p.Leu1946Trp) rs1597840024
NM_001042492.3(NF1):c.5842T>C (p.Tyr1948His) rs1057520575
NM_001042492.3(NF1):c.5845A>T (p.Met1949Leu) rs1597840049
NM_001042492.3(NF1):c.584A>C (p.Lys195Thr)
NM_001042492.3(NF1):c.5851C>G (p.Pro1951Ala) rs1555534391
NM_001042492.3(NF1):c.5852C>A (p.Pro1951Gln)
NM_001042492.3(NF1):c.5858T>C (p.Leu1953Pro) rs199474792
NM_001042492.3(NF1):c.5858T>G (p.Leu1953Arg) rs199474792
NM_001042492.3(NF1):c.586+10_586+15del rs1555607130
NM_001042492.3(NF1):c.586+3A>G rs2065905008
NM_001042492.3(NF1):c.586+3A>T
NM_001042492.3(NF1):c.586+4A>G rs1597644028
NM_001042492.3(NF1):c.586+4dup rs2143708312
NM_001042492.3(NF1):c.586+5G>C rs1060500284
NM_001042492.3(NF1):c.586+5del rs1567820838
NM_001042492.3(NF1):c.586+664A>G
NM_001042492.3(NF1):c.5861C>T (p.Ser1954Leu) rs2069602711
NM_001042492.3(NF1):c.5863A>T (p.Asn1955Tyr) rs1567615782
NM_001042492.3(NF1):c.5864A>G (p.Asn1955Ser)
NM_001042492.3(NF1):c.5866C>A (p.Leu1956Ile) rs747678243
NM_001042492.3(NF1):c.5866C>G (p.Leu1956Val)
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.586G>A (p.Glu196Lys) rs876659079
NM_001042492.3(NF1):c.586G>C (p.Glu196Gln) rs876659079
NM_001042492.3(NF1):c.587-12T>C
NM_001042492.3(NF1):c.587-14T>A rs940581106
NM_001042492.3(NF1):c.587-3C>G rs375188075
NM_001042492.3(NF1):c.587-5dup rs759349569
NM_001042492.3(NF1):c.5870T>C (p.Val1957Ala) rs2069602993
NM_001042492.3(NF1):c.5870T>G (p.Val1957Gly)
NM_001042492.3(NF1):c.5873G>A (p.Arg1958His)
NM_001042492.3(NF1):c.5882A>G (p.Lys1961Arg) rs2069603347
NM_001042492.3(NF1):c.5885A>C (p.His1962Pro) rs1555534402
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.5890G>A (p.Asp1964Asn)
NM_001042492.3(NF1):c.5893G>A (p.Asp1965Asn)
NM_001042492.3(NF1):c.5894A>T (p.Asp1965Val) rs2151550455
NM_001042492.3(NF1):c.5896_5897delinsAT (p.Ala1966Ile) rs2151550467
NM_001042492.3(NF1):c.5897C>T (p.Ala1966Val)
NM_001042492.3(NF1):c.589A>G (p.Thr197Ala) rs1171626658
NM_001042492.3(NF1):c.5900A>G (p.Lys1967Arg) rs1567615807
NM_001042492.3(NF1):c.5903G>A (p.Arg1968Gln)
NM_001042492.3(NF1):c.5906A>G (p.Gln1969Arg)
NM_001042492.3(NF1):c.590C>G (p.Thr197Arg) rs1597658021
NM_001042492.3(NF1):c.590C>T (p.Thr197Ile)
NM_001042492.3(NF1):c.5911G>A (p.Val1971Ile) rs2069605938
NM_001042492.3(NF1):c.5918C>G (p.Ala1973Gly) rs1597840153
NM_001042492.3(NF1):c.5918C>T (p.Ala1973Val) rs1597840153
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.5924T>C (p.Leu1975Pro) rs1555534411
NM_001042492.3(NF1):c.5926G>C (p.Asp1976His)
NM_001042492.3(NF1):c.5928C>A (p.Asp1976Glu) rs568852704
NM_001042492.3(NF1):c.5928C>G (p.Asp1976Glu) rs568852704
NM_001042492.3(NF1):c.592G>A (p.Ala198Thr) rs1555608643
NM_001042492.3(NF1):c.5930A>G (p.Lys1977Arg) rs1555534416
NM_001042492.3(NF1):c.5933T>C (p.Leu1978Pro) rs2069606635
NM_001042492.3(NF1):c.5933T>G (p.Leu1978Arg) rs2069606635
NM_001042492.3(NF1):c.5935A>G (p.Ile1979Val) rs775480099
NM_001042492.3(NF1):c.5935A>T (p.Ile1979Leu) rs775480099
NM_001042492.3(NF1):c.5936T>G (p.Ile1979Arg)
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.593C>A (p.Ala198Glu) rs863224663
NM_001042492.3(NF1):c.593C>T (p.Ala198Val) rs863224663
NM_001042492.3(NF1):c.5943G>T (p.Met1981Ile)
NM_001042492.3(NF1):c.5945C>A (p.Thr1982Asn) rs1336219677
NM_001042492.3(NF1):c.5945C>G (p.Thr1982Ser)
NM_001042492.3(NF1):c.5953G>A (p.Glu1985Lys) rs1567615890
NM_001042492.3(NF1):c.5954A>T (p.Glu1985Val)
NM_001042492.3(NF1):c.5957A>G (p.Lys1986Arg) rs2069607779
NM_001042492.3(NF1):c.5959C>G (p.Gln1987Glu) rs876659070
NM_001042492.3(NF1):c.5960A>G (p.Gln1987Arg) rs2151550646
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.5974A>G (p.Ile1992Val)
NM_001042492.3(NF1):c.5974A>T (p.Ile1992Phe) rs1597840279
NM_001042492.3(NF1):c.5977C>G (p.Gln1993Glu)
NM_001042492.3(NF1):c.5984A>G (p.Lys1995Arg) rs1567615913
NM_001042492.3(NF1):c.5988A>G (p.Ile1996Met)
NM_001042492.3(NF1):c.5989T>C (p.Trp1997Arg) rs1597840306
NM_001042492.3(NF1):c.5992G>A (p.Gly1998Arg) rs1555534426
NM_001042492.3(NF1):c.5995A>T (p.Ser1999Cys) rs753703741
NM_001042492.3(NF1):c.5997C>A (p.Ser1999Arg) rs2069608865
NM_001042492.3(NF1):c.5997C>G (p.Ser1999Arg)
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.5999T>C (p.Leu2000Pro) rs2069608977
NM_001042492.3(NF1):c.599A>C (p.Lys200Thr)
NM_001042492.3(NF1):c.599A>T (p.Lys200Ile) rs1597658055
NM_001042492.3(NF1):c.60+29485G>A
NM_001042492.3(NF1):c.6001G>C (p.Gly2001Arg) rs199474751
NM_001042492.3(NF1):c.6002G>A (p.Gly2001Glu) rs878853905
NM_001042492.3(NF1):c.6002G>T (p.Gly2001Val) rs878853905
NM_001042492.3(NF1):c.6005A>C (p.Gln2002Pro)
NM_001042492.3(NF1):c.6006+5T>C
NM_001042492.3(NF1):c.6006+5_6006+25del rs1555534435
NM_001042492.3(NF1):c.6006+6G>T
NM_001042492.3(NF1):c.6006G>C (p.Gln2002His) rs1555534432
NM_001042492.3(NF1):c.6006G>T (p.Gln2002His) rs1555534432
NM_001042492.3(NF1):c.6009T>G (p.Ile2003Met)
NM_001042492.3(NF1):c.600A>C (p.Lys200Asn)
NM_001042492.3(NF1):c.6010A>G (p.Thr2004Ala)
NM_001042492.3(NF1):c.6010A>T (p.Thr2004Ser) rs2069668251
NM_001042492.3(NF1):c.6011C>T (p.Thr2004Ile) rs1597842207
NM_001042492.3(NF1):c.6013G>A (p.Asp2005Asn) rs876658702
NM_001042492.3(NF1):c.6013G>C (p.Asp2005His) rs876658702
NM_001042492.3(NF1):c.6014A>T (p.Asp2005Val) rs2151553171
NM_001042492.3(NF1):c.6015T>G (p.Asp2005Glu) rs2151553173
NM_001042492.3(NF1):c.6016C>G (p.Leu2006Val) rs2151553176
NM_001042492.3(NF1):c.6018_6020del (p.Leu2007del) rs2151553179
NM_001042492.3(NF1):c.6019C>G (p.Leu2007Val)
NM_001042492.3(NF1):c.6020T>C (p.Leu2007Pro)
NM_001042492.3(NF1):c.6020T>G (p.Leu2007Arg) rs2069668597
NM_001042492.3(NF1):c.6023A>T (p.Asp2008Val) rs2069668717
NM_001042492.3(NF1):c.6024TGT[1] (p.Val2010del) rs2069668833
NM_001042492.3(NF1):c.6025G>T (p.Val2009Phe)
NM_001042492.3(NF1):c.6028G>A (p.Val2010Ile)
NM_001042492.3(NF1):c.6028G>C (p.Val2010Leu)
NM_001042492.3(NF1):c.6029T>A (p.Val2010Glu) rs2151553215
NM_001042492.3(NF1):c.602T>G (p.Phe201Cys) rs2066131098
NM_001042492.3(NF1):c.6031C>G (p.Leu2011Val) rs1567616649
NM_001042492.3(NF1):c.6032T>C (p.Leu2011Pro) rs878853906
NM_001042492.3(NF1):c.6034G>C (p.Asp2012His) rs199474783
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.6041T>G (p.Phe2014Cys) rs1000572454
NM_001042492.3(NF1):c.6043A>G (p.Ile2015Val) rs2151553260
NM_001042492.3(NF1):c.6044T>C (p.Ile2015Thr) rs2069669370
NM_001042492.3(NF1):c.6047A>C (p.Lys2016Thr)
NM_001042492.3(NF1):c.6049A>C (p.Thr2017Pro)
NM_001042492.3(NF1):c.604A>G (p.Lys202Glu) rs2143774078
NM_001042492.3(NF1):c.6050C>T (p.Thr2017Ile)
NM_001042492.3(NF1):c.6052A>C (p.Ser2018Arg) rs2151553286
NM_001042492.3(NF1):c.6052A>G (p.Ser2018Gly) rs2151553286
NM_001042492.3(NF1):c.6053G>A (p.Ser2018Asn) rs2069669492
NM_001042492.3(NF1):c.6055G>C (p.Ala2019Pro) rs2069669625
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.6061G>A (p.Gly2021Ser)
NM_001042492.3(NF1):c.6061G>C (p.Gly2021Arg) rs2151553314
NM_001042492.3(NF1):c.6061G>T (p.Gly2021Cys)
NM_001042492.3(NF1):c.6062G>A (p.Gly2021Asp) rs1555534605
NM_001042492.3(NF1):c.6062G>C (p.Gly2021Ala)
NM_001042492.3(NF1):c.6062G>T (p.Gly2021Val)
NM_001042492.3(NF1):c.6065G>T (p.Gly2022Val) rs1555534606
NM_001042492.3(NF1):c.6069G>C (p.Leu2023Phe) rs1555534607
NM_001042492.3(NF1):c.6076A>G (p.Ile2026Val) rs1376868609
NM_001042492.3(NF1):c.607G>A (p.Ala203Thr) rs904361724
NM_001042492.3(NF1):c.6082G>C (p.Ala2028Pro) rs767869530
NM_001042492.3(NF1):c.6089T>C (p.Val2030Ala)
NM_001042492.3(NF1):c.608C>G (p.Ala203Gly)
NM_001042492.3(NF1):c.6091A>T (p.Met2031Leu)
NM_001042492.3(NF1):c.6092T>A (p.Met2031Lys) rs753624907
NM_001042492.3(NF1):c.6092T>G (p.Met2031Arg)
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.61-13_61-12del rs2143624815
NM_001042492.3(NF1):c.61-3del
NM_001042492.3(NF1):c.61-7464_61-7440del rs1479491862
NM_001042492.3(NF1):c.61-7486G>C
NM_001042492.3(NF1):c.6101C>T (p.Thr2034Ile) rs1567616695
NM_001042492.3(NF1):c.6103G>C (p.Ala2035Pro)
NM_001042492.3(NF1):c.6104C>A (p.Ala2035Asp) rs2151553465
NM_001042492.3(NF1):c.6109G>A (p.Ala2037Thr) rs1555534612
NM_001042492.3(NF1):c.610C>G (p.Leu204Val) rs1460076498
NM_001042492.3(NF1):c.6116C>T (p.Ala2039Val) rs1555534614
NM_001042492.3(NF1):c.6118T>C (p.Ser2040Pro) rs1567616704
NM_001042492.3(NF1):c.6119C>T (p.Ser2040Phe) rs2069671270
NM_001042492.3(NF1):c.6121G>A (p.Gly2041Arg) rs1555534616
NM_001042492.3(NF1):c.6122G>A (p.Gly2041Glu) rs2151553528
NM_001042492.3(NF1):c.6124A>G (p.Asn2042Asp) rs2151553540
NM_001042492.3(NF1):c.6127G>A (p.Val2043Met)
NM_001042492.3(NF1):c.6130A>G (p.Lys2044Glu)
NM_001042492.3(NF1):c.6137T>C (p.Val2046Ala)
NM_001042492.3(NF1):c.6137T>G (p.Val2046Gly)
NM_001042492.3(NF1):c.6141A>C (p.Ser2047=) rs2069671830
NM_001042492.3(NF1):c.6143G>A (p.Ser2048Asn) rs2151553604
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.6147+5T>A rs1597842332
NM_001042492.3(NF1):c.6147+5T>C rs1597842332
NM_001042492.3(NF1):c.6147G>A (p.Lys2049=)
NM_001042492.3(NF1):c.6147G>C (p.Lys2049Asn) rs1135402882
NM_001042492.3(NF1):c.6148-12G>C rs562331001
NM_001042492.3(NF1):c.6148-16T>G rs769223408
NM_001042492.3(NF1):c.6148-3C>G rs1597842697
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.6151A>G (p.Ile2051Val)
NM_001042492.3(NF1):c.6154G>A (p.Gly2052Arg) rs2069681516
NM_001042492.3(NF1):c.6157A>G (p.Arg2053Gly)
NM_001042492.3(NF1):c.6158G>A (p.Arg2053Lys) rs1060500289
NM_001042492.3(NF1):c.6158G>C (p.Arg2053Thr) rs1060500289
NM_001042492.3(NF1):c.6159G>C (p.Arg2053Ser)
NM_001042492.3(NF1):c.615G>A (p.Lys205=) rs1135402794
NM_001042492.3(NF1):c.6160A>G (p.Met2054Val) rs1037341012
NM_001042492.3(NF1):c.6160A>T (p.Met2054Leu) rs1037341012
NM_001042492.3(NF1):c.6161T>A (p.Met2054Lys) rs1555534665
NM_001042492.3(NF1):c.6161T>C (p.Met2054Thr) rs1555534665
NM_001042492.3(NF1):c.6162G>A (p.Met2054Ile) rs876660651
NM_001042492.3(NF1):c.6162G>T (p.Met2054Ile) rs876660651
NM_001042492.3(NF1):c.6164G>C (p.Cys2055Ser) rs1597842735
NM_001042492.3(NF1):c.6166A>C (p.Lys2056Gln) rs1555534667
NM_001042492.3(NF1):c.6169A>G (p.Ile2057Val)
NM_001042492.3(NF1):c.616A>G (p.Lys206Glu) rs1060500269
NM_001042492.3(NF1):c.6170T>C (p.Ile2057Thr)
NM_001042492.3(NF1):c.6175G>A (p.Asp2059Asn) rs761029453
NM_001042492.3(NF1):c.6179A>G (p.Lys2060Arg) rs1597842757
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.6190T>A (p.Ser2064Thr)
NM_001042492.3(NF1):c.6190T>C (p.Ser2064Pro)
NM_001042492.3(NF1):c.6191C>T (p.Ser2064Phe) rs2069682819
NM_001042492.3(NF1):c.6196A>G (p.Thr2066Ala) rs1567616928
NM_001042492.3(NF1):c.6196A>T (p.Thr2066Ser)
NM_001042492.3(NF1):c.619G>T (p.Val207Phe)
NM_001042492.3(NF1):c.61C>A (p.Leu21Ile)
NM_001042492.3(NF1):c.61C>G (p.Leu21Val) rs779453629
NM_001042492.3(NF1):c.6200C>A (p.Pro2067His) rs2151554428
NM_001042492.3(NF1):c.6203C>G (p.Thr2068Ser) rs876659172
NM_001042492.3(NF1):c.6203C>T (p.Thr2068Ile) rs876659172
NM_001042492.3(NF1):c.6212A>G (p.Gln2071Arg) rs1597842800
NM_001042492.3(NF1):c.6214C>T (p.His2072Tyr)
NM_001042492.3(NF1):c.6217C>T (p.Leu2073Phe) rs1026776734
NM_001042492.3(NF1):c.6220A>T (p.Met2074Leu)
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.6229G>T (p.Asp2077Tyr) rs1597842830
NM_001042492.3(NF1):c.6230A>G (p.Asp2077Gly) rs1555534684
NM_001042492.3(NF1):c.6230A>T (p.Asp2077Val) rs1555534684
NM_001042492.3(NF1):c.6235G>C (p.Ala2079Pro)
NM_001042492.3(NF1):c.6238A>G (p.Ile2080Val) rs2069684102
NM_001042492.3(NF1):c.6247C>T (p.Arg2083Cys)
NM_001042492.3(NF1):c.6249C>G (p.Arg2083=) rs1567616975
NM_001042492.3(NF1):c.624_632del (p.Gln209_Ala211del) rs1555608666
NM_001042492.3(NF1):c.6251A>G (p.Tyr2084Cys)
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.6268_6279del (p.Phe2090_Ser2093del) rs2151554649
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.6276T>G (p.Asn2092Lys) rs2069685829
NM_001042492.3(NF1):c.6278C>G (p.Ser2093Cys) rs1555534698
NM_001042492.3(NF1):c.6280C>T (p.Leu2094Phe) rs2069686019
NM_001042492.3(NF1):c.6283G>A (p.Asp2095Asn) rs1254820959
NM_001042492.3(NF1):c.6283G>T (p.Asp2095Tyr)
NM_001042492.3(NF1):c.6289G>T (p.Ala2097Ser)
NM_001042492.3(NF1):c.6292G>A (p.Ala2098Thr) rs894460960
NM_001042492.3(NF1):c.6292G>C (p.Ala2098Pro) rs894460960
NM_001042492.3(NF1):c.6293C>T (p.Ala2098Val) rs764106639
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.6296A>T (p.His2099Leu)
NM_001042492.3(NF1):c.6298C>A (p.Leu2100Ile) rs2069686615
NM_001042492.3(NF1):c.6298C>G (p.Leu2100Val)
NM_001042492.3(NF1):c.6299T>A (p.Leu2100His)
NM_001042492.3(NF1):c.6299T>C (p.Leu2100Pro) rs1555534708
NM_001042492.3(NF1):c.6299T>G (p.Leu2100Arg) rs1555534708
NM_001042492.3(NF1):c.6299_6304del (p.Leu2100_Tyr2102delinsHis)
NM_001042492.3(NF1):c.62T>A (p.Leu21His) rs1567814403
NM_001042492.3(NF1):c.62T>C (p.Leu21Pro) rs1567814403
NM_001042492.3(NF1):c.6302C>G (p.Pro2101Arg) rs756746198
NM_001042492.3(NF1):c.6302C>T (p.Pro2101Leu) rs756746198
NM_001042492.3(NF1):c.6305A>G (p.Tyr2102Cys)
NM_001042492.3(NF1):c.6305A>T (p.Tyr2102Phe) rs1162388561
NM_001042492.3(NF1):c.6307C>A (p.Leu2103Ile)
NM_001042492.3(NF1):c.6307C>T (p.Leu2103Phe) rs1555534719
NM_001042492.3(NF1):c.6308T>A (p.Leu2103His) rs2069687450
NM_001042492.3(NF1):c.6310T>C (p.Phe2104Leu) rs876660000
NM_001042492.3(NF1):c.6312C>G (p.Phe2104Leu) rs780728198
NM_001042492.3(NF1):c.6314A>C (p.His2105Pro) rs1555534726
NM_001042492.3(NF1):c.6316G>C (p.Val2106Leu) rs755791578
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.6319G>A (p.Val2107Ile) rs2151554822
NM_001042492.3(NF1):c.6323C>T (p.Thr2108Ile) rs876658920
NM_001042492.3(NF1):c.6325T>A (p.Phe2109Ile) rs786203627
NM_001042492.3(NF1):c.6327C>G (p.Phe2109Leu) rs2069688250
NM_001042492.3(NF1):c.632C>T (p.Ala211Val) rs1555608675
NM_001042492.3(NF1):c.6338C>A (p.Thr2113Lys) rs768982249
NM_001042492.3(NF1):c.6338C>T (p.Thr2113Ile) rs768982249
NM_001042492.3(NF1):c.6340G>T (p.Gly2114Cys) rs1567617070
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.634G>A (p.Val212Ile) rs2143774495
NM_001042492.3(NF1):c.6352C>G (p.Leu2118Val) rs2151554931
NM_001042492.3(NF1):c.6364A>G (p.Thr2122Ala) rs139387354
NM_001042492.3(NF1):c.6365C>T (p.Thr2122Ile) rs878853907
NM_001042492.3(NF1):c.6368A>G (p.His2123Arg) rs112546213
NM_001042492.3(NF1):c.6368A>T (p.His2123Leu) rs112546213
NM_001042492.3(NF1):c.6370G>A (p.Gly2124Arg)
NM_001042492.3(NF1):c.6373C>G (p.Leu2125Val) rs786204236
NM_001042492.3(NF1):c.6374T>C (p.Leu2125Pro) rs1597843129
NM_001042492.3(NF1):c.6376G>A (p.Val2126Ile) rs1567617114
NM_001042492.3(NF1):c.6377T>A (p.Val2126Asp) rs1597843145
NM_001042492.3(NF1):c.6377T>G (p.Val2126Gly) rs1597843145
NM_001042492.3(NF1):c.6379A>T (p.Ile2127Phe)
NM_001042492.3(NF1):c.637A>G (p.Ile213Val) rs2066132329
NM_001042492.3(NF1):c.6382A>T (p.Asn2128Tyr) rs2151555041
NM_001042492.3(NF1):c.6385A>G (p.Ile2129Val) rs2151555054
NM_001042492.3(NF1):c.6386T>C (p.Ile2129Thr) rs1287981187
NM_001042492.3(NF1):c.6388A>C (p.Ile2130Leu) rs2069690351
NM_001042492.3(NF1):c.638T>C (p.Ile213Thr)
NM_001042492.3(NF1):c.6394T>C (p.Ser2132Pro) rs2151555087
NM_001042492.3(NF1):c.6398T>A (p.Leu2133Gln)
NM_001042492.3(NF1):c.6398T>C (p.Leu2133Pro) rs2069690617
NM_001042492.3(NF1):c.6400T>G (p.Cys2134Gly)
NM_001042492.3(NF1):c.6403A>C (p.Thr2135Pro) rs1555534767
NM_001042492.3(NF1):c.6403A>G (p.Thr2135Ala)
NM_001042492.3(NF1):c.6403A>T (p.Thr2135Ser) rs1555534767
NM_001042492.3(NF1):c.6404C>T (p.Thr2135Ile) rs1555534770
NM_001042492.3(NF1):c.640A>C (p.Asn214His) rs2143774553
NM_001042492.3(NF1):c.6415C>T (p.Leu2139Phe)
NM_001042492.3(NF1):c.6416T>C (p.Leu2139Pro)
NM_001042492.3(NF1):c.641A>G (p.Asn214Ser) rs746291745
NM_001042492.3(NF1):c.6421T>G (p.Phe2141Val) rs2069691314
NM_001042492.3(NF1):c.6424A>C (p.Ser2142Arg) rs1135402886
NM_001042492.3(NF1):c.6425G>A (p.Ser2142Asn) rs876658896
NM_001042492.3(NF1):c.6425G>T (p.Ser2142Ile)
NM_001042492.3(NF1):c.6426T>C (p.Ser2142=) rs1060500251
NM_001042492.3(NF1):c.6427+3A>G
NM_001042492.3(NF1):c.6427+5G>A rs1060500311
NM_001042492.3(NF1):c.6427+5G>C rs1060500311
NM_001042492.3(NF1):c.6427+5G>T
NM_001042492.3(NF1):c.6427+8C>A rs864622598
NM_001042492.3(NF1):c.6428-3C>A rs374014162
NM_001042492.3(NF1):c.6428-5T>C rs1597843627
NM_001042492.3(NF1):c.6430G>A (p.Glu2144Lys)
NM_001042492.3(NF1):c.6430G>C (p.Glu2144Gln)
NM_001042492.3(NF1):c.6431A>G (p.Glu2144Gly) rs2069703452
NM_001042492.3(NF1):c.6432G>C (p.Glu2144Asp)
NM_001042492.3(NF1):c.6432G>T (p.Glu2144Asp)
NM_001042492.3(NF1):c.6434C>T (p.Thr2145Ile) rs1597843658
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.6439C>A (p.Gln2147Lys) rs1555534859
NM_001042492.3(NF1):c.643A>T (p.Ser215Cys) rs1331838002
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.6449_6460del (p.Arg2150_Leu2153del) rs1555534860
NM_001042492.3(NF1):c.644G>A (p.Ser215Asn) rs2143774620
NM_001042492.3(NF1):c.644G>C (p.Ser215Thr)
NM_001042492.3(NF1):c.6458T>C (p.Leu2153Pro) rs2069704188
NM_001042492.3(NF1):c.6461C>T (p.Thr2154Ile) rs876658495
NM_001042492.3(NF1):c.6466T>C (p.Phe2156Leu)
NM_001042492.3(NF1):c.646C>G (p.Leu216Val) rs1597658201
NM_001042492.3(NF1):c.6475C>T (p.Pro2159Ser) rs2151556095
NM_001042492.3(NF1):c.6478A>C (p.Lys2160Gln) rs2151556114
NM_001042492.3(NF1):c.6479A>G (p.Lys2160Arg) rs2151556119
NM_001042492.3(NF1):c.647T>C (p.Leu216Pro) rs199474756
NM_001042492.3(NF1):c.647T>G (p.Leu216Arg) rs199474756
NM_001042492.3(NF1):c.6480A>T (p.Lys2160Asn)
NM_001042492.3(NF1):c.6482T>A (p.Phe2161Tyr)
NM_001042492.3(NF1):c.6488T>C (p.Leu2163Ser) rs1353492847
NM_001042492.3(NF1):c.6489G>C (p.Leu2163Phe) rs2151556147
NM_001042492.3(NF1):c.6497G>T (p.Gly2166Val)
NM_001042492.3(NF1):c.6499A>C (p.Ile2167Leu) rs2069704731
NM_001042492.3(NF1):c.6499A>T (p.Ile2167Phe)
NM_001042492.3(NF1):c.64C>G (p.Pro22Ala) rs1597625794
NM_001042492.3(NF1):c.64C>T (p.Pro22Ser) rs1597625794
NM_001042492.3(NF1):c.6508G>A (p.Val2170Ile) rs2069704816
NM_001042492.3(NF1):c.6520G>A (p.Ala2174Thr) rs2069705000
NM_001042492.3(NF1):c.6521C>T (p.Ala2174Val) rs1555534865
NM_001042492.3(NF1):c.6522T>C (p.Ala2174=)
NM_001042492.3(NF1):c.6523G>A (p.Val2175Ile)
NM_001042492.3(NF1):c.6523G>C (p.Val2175Leu)
NM_001042492.3(NF1):c.6526A>G (p.Ile2176Val) rs2069705304
NM_001042492.3(NF1):c.6527T>C (p.Ile2176Thr) rs2069705362
NM_001042492.3(NF1):c.6534C>T (p.Phe2178=)
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.6536G>T (p.Arg2179Leu) rs772639479
NM_001042492.3(NF1):c.653A>G (p.Lys218Arg) rs1332171832
NM_001042492.3(NF1):c.654+2dup
NM_001042492.3(NF1):c.654+4del rs1555608683
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.6548G>C (p.Arg2183Pro) rs2069706142
NM_001042492.3(NF1):c.655-3T>G rs746584147
NM_001042492.3(NF1):c.655-5T>C rs377264487
NM_001042492.3(NF1):c.655-9T>C rs2143777099
NM_001042492.3(NF1):c.6550G>A (p.Asp2184Asn) rs1597843887
NM_001042492.3(NF1):c.6550G>C (p.Asp2184His)
NM_001042492.3(NF1):c.6555G>A (p.Arg2185=) rs786203189
NM_001042492.3(NF1):c.6556T>C (p.Ser2186Pro) rs765867354
NM_001042492.3(NF1):c.6559T>C (p.Phe2187Leu) rs1555534876
NM_001042492.3(NF1):c.6559T>G (p.Phe2187Val)
NM_001042492.3(NF1):c.655G>C (p.Ala219Pro) rs2066137928
NM_001042492.3(NF1):c.6563C>G (p.Ser2188Cys)
NM_001042492.3(NF1):c.6563C>T (p.Ser2188Phe) rs1555534877
NM_001042492.3(NF1):c.6566C>T (p.Pro2189Leu) rs2069706766
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>C (p.Ser2191Pro) rs754630324
NM_001042492.3(NF1):c.6571T>G (p.Ser2191Ala)
NM_001042492.3(NF1):c.6572C>G (p.Ser2191Cys) rs765598479
NM_001042492.3(NF1):c.6572C>T (p.Ser2191Phe) rs765598479
NM_001042492.3(NF1):c.6574T>C (p.Tyr2192His) rs267606598
NM_001042492.3(NF1):c.6575A>G (p.Tyr2192Cys)
NM_001042492.3(NF1):c.6575A>T (p.Tyr2192Phe)
NM_001042492.3(NF1):c.6577G>C (p.Glu2193Gln) rs1135402891
NM_001042492.3(NF1):c.6581G>A (p.Arg2194Lys) rs2069707550
NM_001042492.3(NF1):c.6583G>C (p.Glu2195Gln) rs1597843959
NM_001042492.3(NF1):c.6585G>C (p.Glu2195Asp)
NM_001042492.3(NF1):c.6586A>G (p.Thr2196Ala) rs372169109
NM_001042492.3(NF1):c.6587C>T (p.Thr2196Ile) rs2151556471
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.65C>T (p.Pro22Leu) rs2065654347
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.6616A>G (p.Thr2206Ala) rs781167415
NM_001042492.3(NF1):c.6617C>T (p.Thr2206Ile) rs1555534885
NM_001042492.3(NF1):c.6620_6622del (p.Glu2207del) rs2069708499
NM_001042492.3(NF1):c.6621A>C (p.Glu2207Asp) rs111405163
NM_001042492.3(NF1):c.6622G>A (p.Ala2208Thr) rs2151556592
NM_001042492.3(NF1):c.6623C>G (p.Ala2208Gly) rs1555534886
NM_001042492.3(NF1):c.6623C>T (p.Ala2208Val) rs1555534886
NM_001042492.3(NF1):c.6625T>G (p.Leu2209Val) rs2151556602
NM_001042492.3(NF1):c.6630G>A (p.Leu2210=) rs886052801
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.6637A>G (p.Met2213Val) rs864622330
NM_001042492.3(NF1):c.6638T>C (p.Met2213Thr)
NM_001042492.3(NF1):c.6641A>G (p.Glu2214Gly)
NM_001042492.3(NF1):c.6642+11C>G rs375446476
NM_001042492.3(NF1):c.6642+18A>G rs1555534893
NM_001042492.3(NF1):c.6642+26C>G
NM_001042492.3(NF1):c.6642+3A>G rs1555534891
NM_001042492.3(NF1):c.6642+3A>T
NM_001042492.3(NF1):c.6642+5A>G rs1567617536
NM_001042492.3(NF1):c.6642+6G>A rs2069709590
NM_001042492.3(NF1):c.6642+6del rs1597844152
NM_001042492.3(NF1):c.6642G>A (p.Glu2214=) rs876660207
NM_001042492.3(NF1):c.6643-10C>T rs1597844527
NM_001042492.3(NF1):c.6643-18G>C
NM_001042492.3(NF1):c.6643-3T>A rs1326745383
NM_001042492.3(NF1):c.6643-3T>G rs1326745383
NM_001042492.3(NF1):c.6643-4T>C rs1555534908
NM_001042492.3(NF1):c.6643-5T>G rs1555534907
NM_001042492.3(NF1):c.6644C>T (p.Ala2215Val) rs2069716487
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.6648C>T (p.Cys2216=) rs1597844556
NM_001042492.3(NF1):c.6649A>G (p.Met2217Val) rs876658255
NM_001042492.3(NF1):c.664A>G (p.Asn222Asp) rs2143777490
NM_001042492.3(NF1):c.6650T>A (p.Met2217Lys) rs2069716815
NM_001042492.3(NF1):c.6656A>G (p.Asp2219Gly)
NM_001042492.3(NF1):c.6656A>T (p.Asp2219Val) rs1567617676
NM_001042492.3(NF1):c.6657T>G (p.Asp2219Glu) rs786203831
NM_001042492.3(NF1):c.6658A>C (p.Ile2220Leu) rs781284066
NM_001042492.3(NF1):c.6658A>G (p.Ile2220Val) rs781284066
NM_001042492.3(NF1):c.665A>C (p.Asn222Thr) rs587781709
NM_001042492.3(NF1):c.6664A>T (p.Thr2222Ser)
NM_001042492.3(NF1):c.6679G>A (p.Asp2227Asn) rs993364800
NM_001042492.3(NF1):c.6680A>T (p.Asp2227Val) rs1485756462
NM_001042492.3(NF1):c.6681C>A (p.Asp2227Glu) rs876659371
NM_001042492.3(NF1):c.6681C>G (p.Asp2227Glu) rs876659371
NM_001042492.3(NF1):c.6683A>G (p.Gln2228Arg)
NM_001042492.3(NF1):c.6687G>C (p.Trp2229Cys)
NM_001042492.3(NF1):c.6691G>A (p.Glu2231Lys) rs1024484381
NM_001042492.3(NF1):c.6691G>C (p.Glu2231Gln)
NM_001042492.3(NF1):c.6693A>C (p.Glu2231Asp) rs777588905
NM_001042492.3(NF1):c.6694C>G (p.Leu2232Val) rs1597844673
NM_001042492.3(NF1):c.6697G>A (p.Ala2233Thr) rs2069718829
NM_001042492.3(NF1):c.6698C>T (p.Ala2233Val)
NM_001042492.3(NF1):c.669G>T (p.Trp223Cys) rs1057517967
NM_001042492.3(NF1):c.6700C>G (p.Gln2234Glu) rs1567617727
NM_001042492.3(NF1):c.6701A>G (p.Gln2234Arg) rs1597844689
NM_001042492.3(NF1):c.6702A>G (p.Gln2234=)
NM_001042492.3(NF1):c.6704+4T>C rs1555534930
NM_001042492.3(NF1):c.6704+5G>A rs2069719353
NM_001042492.3(NF1):c.6704G>T (p.Arg2235Ile) rs2069719031
NM_001042492.3(NF1):c.6705-14T>G
NM_001042492.3(NF1):c.6705-17G>A rs1064795966
NM_001042492.3(NF1):c.6705-3C>T
NM_001042492.3(NF1):c.6705-4del
NM_001042492.3(NF1):c.6705-5T>G rs1597844956
NM_001042492.3(NF1):c.6705-9T>G
NM_001042492.3(NF1):c.6705-9_6705-8insGCAGATTG rs2069723972
NM_001042492.3(NF1):c.6706T>A (p.Phe2236Ile) rs2151558031
NM_001042492.3(NF1):c.6706T>C (p.Phe2236Leu)
NM_001042492.3(NF1):c.670G>C (p.Val224Leu) rs1567826116
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.6716A>T (p.Gln2239Leu) rs1597844989
NM_001042492.3(NF1):c.6717A>G (p.Gln2239=) rs2069724967
NM_001042492.3(NF1):c.6725C>T (p.Pro2242Leu)
NM_001042492.3(NF1):c.6728C>G (p.Ser2243Cys) rs2151558088
NM_001042492.3(NF1):c.6730C>G (p.Leu2244Val)
NM_001042492.3(NF1):c.6736C>A (p.Pro2246Thr) rs2151558118
NM_001042492.3(NF1):c.6745C>T (p.Leu2249Phe)
NM_001042492.3(NF1):c.6746T>G (p.Leu2249Arg) rs2151558158
NM_001042492.3(NF1):c.6748G>C (p.Val2250Leu)
NM_001042492.3(NF1):c.6748G>T (p.Val2250Phe)
NM_001042492.3(NF1):c.6749T>C (p.Val2250Ala) rs1567617869
NM_001042492.3(NF1):c.6751G>T (p.Val2251Phe)
NM_001042492.3(NF1):c.6756T>G (p.Phe2252Leu) rs1597845056
NM_001042492.3(NF1):c.6757G>C (p.Gly2253Arg)
NM_001042492.3(NF1):c.6758G>A (p.Gly2253Glu) rs876659295
NM_001042492.3(NF1):c.6762T>G (p.Cys2254Trp)
NM_001042492.3(NF1):c.6763A>C (p.Ile2255Leu)
NM_001042492.3(NF1):c.6763A>T (p.Ile2255Phe)
NM_001042492.3(NF1):c.6764T>G (p.Ile2255Ser) rs2069726396
NM_001042492.3(NF1):c.6766A>G (p.Ser2256Gly)
NM_001042492.3(NF1):c.6768C>A (p.Ser2256Arg)
NM_001042492.3(NF1):c.676A>G (p.Asn226Asp)
NM_001042492.3(NF1):c.6771A>T (p.Lys2257Asn) rs2151558249
NM_001042492.3(NF1):c.6772C>G (p.Arg2258Gly)
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.6781C>G (p.His2261Asp) rs750869272
NM_001042492.3(NF1):c.6781C>T (p.His2261Tyr) rs750869272
NM_001042492.3(NF1):c.6782A>C (p.His2261Pro) rs201336602
NM_001042492.3(NF1):c.6782A>G (p.His2261Arg) rs201336602
NM_001042492.3(NF1):c.6782A>T (p.His2261Leu)
NM_001042492.3(NF1):c.6784G>T (p.Gly2262Trp) rs1392981001
NM_001042492.3(NF1):c.6784_6801dup (p.Gly2262_Ile2267dup) rs2151558293
NM_001042492.3(NF1):c.6787C>A (p.Gln2263Lys) rs2069727121
NM_001042492.3(NF1):c.6790A>G (p.Ile2264Val) rs761213794
NM_001042492.3(NF1):c.6791T>A (p.Ile2264Lys)
NM_001042492.3(NF1):c.6792A>G (p.Ile2264Met)
NM_001042492.3(NF1):c.6793A>G (p.Lys2265Glu)
NM_001042492.3(NF1):c.6794A>G (p.Lys2265Arg) rs1060500258
NM_001042492.3(NF1):c.6794A>T (p.Lys2265Met) rs1060500258
NM_001042492.3(NF1):c.6798G>T (p.Gln2266His)
NM_001042492.3(NF1):c.6799A>G (p.Ile2267Val)
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.6801A>G (p.Ile2267Met) rs876659381
NM_001042492.3(NF1):c.6805C>G (p.Arg2269Gly) rs1555534961
NM_001042492.3(NF1):c.6805C>T (p.Arg2269Cys) rs1555534961
NM_001042492.3(NF1):c.6808A>G (p.Ile2270Val)
NM_001042492.3(NF1):c.680A>G (p.Tyr227Cys)
NM_001042492.3(NF1):c.6811C>G (p.Leu2271Val)
NM_001042492.3(NF1):c.6811C>T (p.Leu2271Phe) rs2151558388
NM_001042492.3(NF1):c.6815G>C (p.Ser2272Thr)
NM_001042492.3(NF1):c.6818A>G (p.Lys2273Arg) rs1060500344
NM_001042492.3(NF1):c.6819+3_6819+4del
NM_001042492.3(NF1):c.6819+3del rs2069728377
NM_001042492.3(NF1):c.6819+4C>A rs755135948
NM_001042492.3(NF1):c.6819+5C>A rs876659499
NM_001042492.3(NF1):c.6819G>T (p.Lys2273Asn) rs1060500373
NM_001042492.3(NF1):c.6820-10T>G rs1597845883
NM_001042492.3(NF1):c.6820-14T>G
NM_001042492.3(NF1):c.6820-29_6820-5del
NM_001042492.3(NF1):c.6820-3A>G
NM_001042492.3(NF1):c.6820-6T>C rs1597845896
NM_001042492.3(NF1):c.6820-7C>A rs1555535020
NM_001042492.3(NF1):c.6820-8C>G rs1060503909
NM_001042492.3(NF1):c.6820-8C>T rs1060503909
NM_001042492.3(NF1):c.6821C>G (p.Ala2274Gly) rs2069742248
NM_001042492.3(NF1):c.6826G>A (p.Glu2276Lys) rs2069742475
NM_001042492.3(NF1):c.6830G>A (p.Ser2277Asn) rs1597845918
NM_001042492.3(NF1):c.6832T>A (p.Cys2278Ser) rs2069742802
NM_001042492.3(NF1):c.6832T>G (p.Cys2278Gly)
NM_001042492.3(NF1):c.6835T>A (p.Leu2279Ile)
NM_001042492.3(NF1):c.6841G>A (p.Gly2281Arg)
NM_001042492.3(NF1):c.6845C>G (p.Pro2282Arg) rs2069743547
NM_001042492.3(NF1):c.6850A>G (p.Thr2284Ala) rs1597845953
NM_001042492.3(NF1):c.6853T>C (p.Tyr2285His)
NM_001042492.3(NF1):c.6854ACA[1] (p.Asn2286del)
NM_001042492.3(NF1):c.6854_6855insTGA (p.Tyr2285_Asn2286insAsp)
NM_001042492.3(NF1):c.6855C>T (p.Tyr2285=) rs772295894
NM_001042492.3(NF1):c.6856A>C (p.Asn2286His)
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.6861T>G (p.Ser2287Arg) rs2069744324
NM_001042492.3(NF1):c.6864A>G (p.Gln2288=) rs1064794756
NM_001042492.3(NF1):c.6865G>C (p.Val2289Leu) rs943381724
NM_001042492.3(NF1):c.6869T>C (p.Leu2290Pro)
NM_001042492.3(NF1):c.6869T>G (p.Leu2290Arg)
NM_001042492.3(NF1):c.686A>G (p.Asp229Gly) rs1060500285
NM_001042492.3(NF1):c.686A>T (p.Asp229Val)
NM_001042492.3(NF1):c.6871A>C (p.Ile2291Leu) rs876659722
NM_001042492.3(NF1):c.6871A>T (p.Ile2291Leu) rs876659722
NM_001042492.3(NF1):c.6872T>C (p.Ile2291Thr)
NM_001042492.3(NF1):c.6877_6878delinsAG (p.Ala2293Ser)
NM_001042492.3(NF1):c.6881C>T (p.Thr2294Ile) rs786201902
NM_001042492.3(NF1):c.6883G>T (p.Val2295Leu) rs2151559300
NM_001042492.3(NF1):c.6886_6903del (p.Ile2296_Leu2301del) rs2069744859
NM_001042492.3(NF1):c.6887T>C (p.Ile2296Thr) rs1212022548
NM_001042492.3(NF1):c.6889G>A (p.Ala2297Thr) rs2151559310
NM_001042492.3(NF1):c.688G>C (p.Glu230Gln)
NM_001042492.3(NF1):c.6890C>G (p.Ala2297Gly) rs2069744965
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.6896C>T (p.Thr2299Ile)
NM_001042492.3(NF1):c.6898A>G (p.Lys2300Glu)
NM_001042492.3(NF1):c.689A>G (p.Glu230Gly)
NM_001042492.3(NF1):c.6900A>C (p.Lys2300Asn) rs786203861
NM_001042492.3(NF1):c.6900A>T (p.Lys2300Asn) rs786203861
NM_001042492.3(NF1):c.6905A>G (p.Gln2302Arg)
NM_001042492.3(NF1):c.6906G>T (p.Gln2302His)
NM_001042492.3(NF1):c.6908C>T (p.Pro2303Leu) rs2151559381
NM_001042492.3(NF1):c.690A>C (p.Glu230Asp) rs2066138707
NM_001042492.3(NF1):c.6917A>G (p.Asn2306Ser) rs1597846107
NM_001042492.3(NF1):c.6917A>T (p.Asn2306Ile)
NM_001042492.3(NF1):c.6918T>A (p.Asn2306Lys) rs1597846111
NM_001042492.3(NF1):c.6919_6921del (p.Lys2307del) rs587782819
NM_001042492.3(NF1):c.691T>G (p.Phe231Val) rs2143777882
NM_001042492.3(NF1):c.6920A>G (p.Lys2307Arg) rs765418194
NM_001042492.3(NF1):c.6921+10G>A rs767166725
NM_001042492.3(NF1):c.6921+2_6921+3dup
NM_001042492.3(NF1):c.6921+3A>C rs1085307885
NM_001042492.3(NF1):c.6921+3_6921+64dup rs2151559419
NM_001042492.3(NF1):c.6921+6T>G rs368541645
NM_001042492.3(NF1):c.6921G>T (p.Lys2307Asn) rs1057523533
NM_001042492.3(NF1):c.6922-13T>A rs199901687
NM_001042492.3(NF1):c.6922-3C>T rs876659438
NM_001042492.3(NF1):c.6922-4C>T rs2069789284
NM_001042492.3(NF1):c.6922-9_6922-7del rs2151561376
NM_001042492.3(NF1):c.6922G>A (p.Asp2308Asn) rs775660003
NM_001042492.3(NF1):c.6922G>T (p.Asp2308Tyr)
NM_001042492.3(NF1):c.6925T>G (p.Ser2309Ala) rs2151561428
NM_001042492.3(NF1):c.6926C>T (p.Ser2309Leu) rs1555535159
NM_001042492.3(NF1):c.6928C>G (p.Pro2310Ala)
NM_001042492.3(NF1):c.6928C>T (p.Pro2310Ser) rs2069789708
NM_001042492.3(NF1):c.6931C>A (p.Leu2311Met) rs1044698498
NM_001042492.3(NF1):c.6931C>G (p.Leu2311Val) rs1044698498
NM_001042492.3(NF1):c.6935A>C (p.His2312Pro) rs2151561492
NM_001042492.3(NF1):c.6938A>G (p.Lys2313Arg) rs2069790077
NM_001042492.3(NF1):c.693_694delinsCT (p.Thr232Ser) rs1555608748
NM_001042492.3(NF1):c.6941C>T (p.Ala2314Val) rs2151561523
NM_001042492.3(NF1):c.6943C>G (p.Leu2315Val) rs1361377546
NM_001042492.3(NF1):c.6946T>C (p.Phe2316Leu)
NM_001042492.3(NF1):c.6948T>G (p.Phe2316Leu) rs1597847958
NM_001042492.3(NF1):c.6949T>G (p.Trp2317Gly) rs1060500297
NM_001042492.3(NF1):c.694A>G (p.Thr232Ala) rs876660027
NM_001042492.3(NF1):c.694A>T (p.Thr232Ser) rs876660027
NM_001042492.3(NF1):c.6951G>C (p.Trp2317Cys) rs2069790642
NM_001042492.3(NF1):c.6952G>T (p.Val2318Leu) rs760528229
NM_001042492.3(NF1):c.6953T>A (p.Val2318Glu)
NM_001042492.3(NF1):c.6953T>C (p.Val2318Ala) rs2069790813
NM_001042492.3(NF1):c.6955G>A (p.Ala2319Thr) rs786203881
NM_001042492.3(NF1):c.6955G>C (p.Ala2319Pro) rs786203881
NM_001042492.3(NF1):c.6955G>T (p.Ala2319Ser) rs786203881
NM_001042492.3(NF1):c.6955_6969del (p.Ala2319_Leu2323del) rs2069790969
NM_001042492.3(NF1):c.6956C>T (p.Ala2319Val)
NM_001042492.3(NF1):c.6959T>C (p.Val2320Ala) rs2069791087
NM_001042492.3(NF1):c.6959T>G (p.Val2320Gly)
NM_001042492.3(NF1):c.695C>G (p.Thr232Arg) rs769719064
NM_001042492.3(NF1):c.695C>T (p.Thr232Ile) rs769719064
NM_001042492.3(NF1):c.6968T>C (p.Leu2323Pro) rs1131691267
NM_001042492.3(NF1):c.6971A>G (p.Gln2324Arg)
NM_001042492.3(NF1):c.6972G>C (p.Gln2324His)
NM_001042492.3(NF1):c.6973C>A (p.Leu2325Ile) rs1597848038
NM_001042492.3(NF1):c.6976G>A (p.Asp2326Asn) rs1374858930
NM_001042492.3(NF1):c.6976G>C (p.Asp2326His)
NM_001042492.3(NF1):c.6977A>G (p.Asp2326Gly)
NM_001042492.3(NF1):c.6977A>T (p.Asp2326Val) rs2069791654
NM_001042492.3(NF1):c.6978T>C (p.Asp2326=) rs1135402896
NM_001042492.3(NF1):c.6979G>A (p.Glu2327Lys) rs2151561691
NM_001042492.3(NF1):c.697A>C (p.Lys233Gln) rs922257267
NM_001042492.3(NF1):c.697A>G (p.Lys233Glu) rs922257267
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.6986A>G (p.Asn2329Ser) rs1597848079
NM_001042492.3(NF1):c.698A>G (p.Lys233Arg) rs2066138986
NM_001042492.3(NF1):c.6990_6991insATGAGG (p.Leu2330_Tyr2331insMetArg) rs1597848085
NM_001042492.3(NF1):c.6992A>T (p.Tyr2331Phe) rs1060500304
NM_001042492.3(NF1):c.6994T>G (p.Ser2332Ala)
NM_001042492.3(NF1):c.6995CAG[1] (p.Ala2333del) rs2151561758
NM_001042492.3(NF1):c.6996A>C (p.Ser2332=)
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.7000G>C (p.Gly2334Arg) rs1597848100
NM_001042492.3(NF1):c.7001G>T (p.Gly2334Val)
NM_001042492.3(NF1):c.7002T>G (p.Gly2334=)
NM_001042492.3(NF1):c.7003A>C (p.Thr2335Pro) rs370209920
NM_001042492.3(NF1):c.7004C>A (p.Thr2335Asn)
NM_001042492.3(NF1):c.7004C>T (p.Thr2335Ile)
NM_001042492.3(NF1):c.7006G>C (p.Ala2336Pro) rs587781428
NM_001042492.3(NF1):c.7006G>T (p.Ala2336Ser) rs587781428
NM_001042492.3(NF1):c.7007C>A (p.Ala2336Glu) rs886052802
NM_001042492.3(NF1):c.7010T>G (p.Leu2337Arg) rs1555535179
NM_001042492.3(NF1):c.7012C>G (p.Leu2338Val) rs1597848149
NM_001042492.3(NF1):c.7012C>T (p.Leu2338Phe) rs1597848149
NM_001042492.3(NF1):c.7025T>C (p.Leu2342Pro)
NM_001042492.3(NF1):c.7025T>G (p.Leu2342Arg) rs2151561874
NM_001042492.3(NF1):c.7027C>T (p.His2343Tyr) rs781578248
NM_001042492.3(NF1):c.7028A>G (p.His2343Arg)
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>G (p.Thr2344Ser)
NM_001042492.3(NF1):c.7031C>T (p.Thr2344Ile) rs2069793613
NM_001042492.3(NF1):c.7033T>G (p.Leu2345Val)
NM_001042492.3(NF1):c.7034T>C (p.Leu2345Ser) rs1555535195
NM_001042492.3(NF1):c.7036G>A (p.Asp2346Asn) rs2069793959
NM_001042492.3(NF1):c.7036G>C (p.Asp2346His) rs2069793959
NM_001042492.3(NF1):c.7036G>T (p.Asp2346Tyr)
NM_001042492.3(NF1):c.7037A>G (p.Asp2346Gly) rs2151561935
NM_001042492.3(NF1):c.7037A>T (p.Asp2346Val) 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.7045C>G (p.Arg2349Gly) rs56013763
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.704A>G (p.Tyr235Cys)
NM_001042492.3(NF1):c.7050A>G (p.Ile2350Met)
NM_001042492.3(NF1):c.7052T>A (p.Phe2351Tyr)
NM_001042492.3(NF1):c.7052T>C (p.Phe2351Ser)
NM_001042492.3(NF1):c.7054A>G (p.Asn2352Asp) rs1441937734
NM_001042492.3(NF1):c.7057_7059del (p.Asp2353del) rs786203558
NM_001042492.3(NF1):c.7060A>G (p.Lys2354Glu) rs2069795315
NM_001042492.3(NF1):c.7062+17T>G rs2151562120
NM_001042492.3(NF1):c.7062+3A>G
NM_001042492.3(NF1):c.7062+3A>T
NM_001042492.3(NF1):c.7062+3_7062+31del
NM_001042492.3(NF1):c.7062+6C>G rs2069795623
NM_001042492.3(NF1):c.7062+6C>T
NM_001042492.3(NF1):c.7062G>A (p.Lys2354=) rs184142864
NM_001042492.3(NF1):c.7063-3T>C rs1241158120
NM_001042492.3(NF1):c.7063-3T>G rs1241158120
NM_001042492.3(NF1):c.7063-4A>G rs749805168
NM_001042492.3(NF1):c.7063-4_7063-2del rs1597851237
NM_001042492.3(NF1):c.7063-7T>A
NM_001042492.3(NF1):c.7063-9C>G rs1555535398
NM_001042492.3(NF1):c.7063-9_7063-7del
NM_001042492.3(NF1):c.7063A>C (p.Ser2355Arg)
NM_001042492.3(NF1):c.7064G>A (p.Ser2355Asn) rs1555535399
NM_001042492.3(NF1):c.7064G>T (p.Ser2355Ile)
NM_001042492.3(NF1):c.7065T>A (p.Ser2355Arg)
NM_001042492.3(NF1):c.7065T>G (p.Ser2355Arg) rs1567620376
NM_001042492.3(NF1):c.7066C>T (p.Pro2356Ser) rs2151564948
NM_001042492.3(NF1):c.7067C>A (p.Pro2356Gln) rs1555535402
NM_001042492.3(NF1):c.7067C>G (p.Pro2356Arg)
NM_001042492.3(NF1):c.7067C>T (p.Pro2356Leu) rs1555535402
NM_001042492.3(NF1):c.7069G>A (p.Glu2357Lys) rs199474784
NM_001042492.3(NF1):c.706C>G (p.Gln236Glu) rs1597658664
NM_001042492.3(NF1):c.7070A>G (p.Glu2357Gly) rs786203596
NM_001042492.3(NF1):c.7070A>T (p.Glu2357Val) rs786203596
NM_001042492.3(NF1):c.7072G>A (p.Glu2358Lys) rs2069865899
NM_001042492.3(NF1):c.7072G>C (p.Glu2358Gln) rs2069865899
NM_001042492.3(NF1):c.7073A>G (p.Glu2358Gly)
NM_001042492.3(NF1):c.7074A>T (p.Glu2358Asp)
NM_001042492.3(NF1):c.7078T>C (p.Phe2360Leu) rs2069866148
NM_001042492.3(NF1):c.7078T>G (p.Phe2360Val) rs2069866148
NM_001042492.3(NF1):c.7079T>G (p.Phe2360Cys) rs1567620390
NM_001042492.3(NF1):c.707A>G (p.Gln236Arg) rs1321998864
NM_001042492.3(NF1):c.7081A>G (p.Met2361Val) rs1022562410
NM_001042492.3(NF1):c.7082T>C (p.Met2361Thr)
NM_001042492.3(NF1):c.7083G>A (p.Met2361Ile) rs1293010884
NM_001042492.3(NF1):c.7089C>G (p.Ile2363Met) rs2069866501
NM_001042492.3(NF1):c.7090C>T (p.Arg2364Trp) rs1567620403
NM_001042492.3(NF1):c.7097C>G (p.Pro2366Arg) rs1597851311
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.709A>G (p.Ile237Val)
NM_001042492.3(NF1):c.7102G>A (p.Glu2368Lys) rs2151565046
NM_001042492.3(NF1):c.7102G>C (p.Glu2368Gln)
NM_001042492.3(NF1):c.7108C>T (p.His2370Tyr) rs587781479
NM_001042492.3(NF1):c.7110C>G (p.His2370Gln)
NM_001042492.3(NF1):c.7113C>T (p.Cys2371=) rs2069867490
NM_001042492.3(NF1):c.711C>G (p.Ile237Met) rs2066139444
NM_001042492.3(NF1):c.7120A>G (p.Met2374Val) rs2069867800
NM_001042492.3(NF1):c.7120A>T (p.Met2374Leu)
NM_001042492.3(NF1):c.7121T>G (p.Met2374Arg)
NM_001042492.3(NF1):c.7122G>A (p.Met2374Ile) rs2151565097
NM_001042492.3(NF1):c.7125T>A (p.Asp2375Glu) rs1597851343
NM_001042492.3(NF1):c.712C>G (p.Pro238Ala) rs1060500365
NM_001042492.3(NF1):c.7138C>T (p.Leu2380Phe) rs2069868324
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.7144T>A (p.Phe2382Ile) rs2069868688
NM_001042492.3(NF1):c.7146C>G (p.Phe2382Leu) rs2151565177
NM_001042492.3(NF1):c.7148A>C (p.Asn2383Thr)
NM_001042492.3(NF1):c.7150T>C (p.Ser2384Pro) rs1555535429
NM_001042492.3(NF1):c.7153A>C (p.Asn2385His)
NM_001042492.3(NF1):c.7153A>G (p.Asn2385Asp) rs1597851405
NM_001042492.3(NF1):c.7156T>G (p.Phe2386Val) rs1597851418
NM_001042492.3(NF1):c.7157T>C (p.Phe2386Ser) rs1555535439
NM_001042492.3(NF1):c.7159A>T (p.Asn2387Tyr) rs763556723
NM_001042492.3(NF1):c.7160A>C (p.Asn2387Thr) rs2069869339
NM_001042492.3(NF1):c.7160A>G (p.Asn2387Ser)
NM_001042492.3(NF1):c.7161C>G (p.Asn2387Lys) rs1555535444
NM_001042492.3(NF1):c.7162T>A (p.Phe2388Ile) rs1425642121
NM_001042492.3(NF1):c.7162T>C (p.Phe2388Leu) rs1425642121
NM_001042492.3(NF1):c.7162T>G (p.Phe2388Val)
NM_001042492.3(NF1):c.7170G>C (p.Leu2390Phe) rs751081026
NM_001042492.3(NF1):c.7170G>T (p.Leu2390Phe) rs751081026
NM_001042492.3(NF1):c.7172T>C (p.Val2391Ala) rs2069869918
NM_001042492.3(NF1):c.7174G>A (p.Gly2392Arg)
NM_001042492.3(NF1):c.7174G>C (p.Gly2392Arg) rs1357330262
NM_001042492.3(NF1):c.7175G>A (p.Gly2392Glu) rs2151565294
NM_001042492.3(NF1):c.7177C>T (p.His2393Tyr) rs1597851468
NM_001042492.3(NF1):c.7178A>C (p.His2393Pro)
NM_001042492.3(NF1):c.7178A>G (p.His2393Arg) rs2069870134
NM_001042492.3(NF1):c.7179C>A (p.His2393Gln) rs2069870191
NM_001042492.3(NF1):c.7179C>G (p.His2393Gln) rs2069870191
NM_001042492.3(NF1):c.7180C>A (p.Leu2394Ile) rs1555535452
NM_001042492.3(NF1):c.7180C>G (p.Leu2394Val) rs1555535452
NM_001042492.3(NF1):c.7181T>A (p.Leu2394His) rs1135402899
NM_001042492.3(NF1):c.7183T>G (p.Leu2395Val) rs1567620503
NM_001042492.3(NF1):c.7188A>G (p.Lys2396=) rs202067626
NM_001042492.3(NF1):c.7189+4A>C rs756834212
NM_001042492.3(NF1):c.7189+6A>C
NM_001042492.3(NF1):c.7189G>C (p.Gly2397Arg) rs1135402900
NM_001042492.3(NF1):c.7190-10_7190-3delinsCTTTTGG rs2151572443
NM_001042492.3(NF1):c.7190-34C>A rs1757582806
NM_001042492.3(NF1):c.7190-3T>C rs2070073286
NM_001042492.3(NF1):c.7190-5T>C rs748245325
NM_001042492.3(NF1):c.7190-5T>G rs748245325
NM_001042492.3(NF1):c.7190-5del rs769290414
NM_001042492.3(NF1):c.7190-6T>C rs1597858313
NM_001042492.3(NF1):c.7190G>A (p.Gly2397Glu) rs2070073482
NM_001042492.3(NF1):c.7193A>G (p.Tyr2398Cys) rs1567623401
NM_001042492.3(NF1):c.7195A>G (p.Arg2399Gly)
NM_001042492.3(NF1):c.7196G>A (p.Arg2399Lys)
NM_001042492.3(NF1):c.7197G>T (p.Arg2399Ser)
NM_001042492.3(NF1):c.7198C>T (p.His2400Tyr) rs1567623421
NM_001042492.3(NF1):c.7199A>G (p.His2400Arg) rs1597858362
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.7204T>G (p.Ser2402Ala) rs1287571228
NM_001042492.3(NF1):c.7210G>A (p.Ala2404Thr) rs2151572526
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.7219G>C (p.Ala2407Pro) rs2151572572
NM_001042492.3(NF1):c.721G>A (p.Asp241Asn) rs2066139718
NM_001042492.3(NF1):c.721G>T (p.Asp241Tyr)
NM_001042492.3(NF1):c.7220C>G (p.Ala2407Gly) rs2151572575
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.7228G>C (p.Val2410Leu) rs1060500372
NM_001042492.3(NF1):c.722A>C (p.Asp241Ala)
NM_001042492.3(NF1):c.7233A>T (p.Arg2411Ser)
NM_001042492.3(NF1):c.7235T>G (p.Ile2412Ser)
NM_001042492.3(NF1):c.7237T>G (p.Leu2413Val)
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.7241A>C (p.His2414Pro) rs876659855
NM_001042492.3(NF1):c.7243A>G (p.Thr2415Ala)
NM_001042492.3(NF1):c.7244C>A (p.Thr2415Lys)
NM_001042492.3(NF1):c.7246C>G (p.Leu2416Val) rs786201310
NM_001042492.3(NF1):c.7246C>T (p.Leu2416=) rs786201310
NM_001042492.3(NF1):c.7246CTA[1] (p.Leu2417del) rs1555536023
NM_001042492.3(NF1):c.7249C>G (p.Leu2417Val) rs2070075539
NM_001042492.3(NF1):c.724A>G (p.Met242Val) rs1555608762
NM_001042492.3(NF1):c.7253C>G (p.Thr2418Ser)
NM_001042492.3(NF1):c.7256T>C (p.Leu2419Pro)
NM_001042492.3(NF1):c.7256T>G (p.Leu2419Arg) rs2070075780
NM_001042492.3(NF1):c.7258G>A (p.Val2420Ile) rs1597858484
NM_001042492.3(NF1):c.7258G>C (p.Val2420Leu) rs1597858484
NM_001042492.3(NF1):c.725T>C (p.Met242Thr) rs1555608765
NM_001042492.3(NF1):c.725T>G (p.Met242Arg) rs1555608765
NM_001042492.3(NF1):c.7262A>C (p.Asn2421Thr) rs774339063
NM_001042492.3(NF1):c.7262A>G (p.Asn2421Ser) rs774339063
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.7269C>A (p.His2423Gln)
NM_001042492.3(NF1):c.7269C>G (p.His2423Gln)
NM_001042492.3(NF1):c.726G>A (p.Met242Ile)
NM_001042492.3(NF1):c.7271G>T (p.Arg2424Ile) rs1555536029
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.727G>A (p.Ala243Thr)
NM_001042492.3(NF1):c.7281C>A (p.Asp2427Glu) rs1567623519
NM_001042492.3(NF1):c.7282A>C (p.Lys2428Gln)
NM_001042492.3(NF1):c.7283A>T (p.Lys2428Ile) rs2070077385
NM_001042492.3(NF1):c.7286T>C (p.Phe2429Ser)
NM_001042492.3(NF1):c.7289A>C (p.Glu2430Ala) rs876659449
NM_001042492.3(NF1):c.7291G>A (p.Val2431Met)
NM_001042492.3(NF1):c.7292T>C (p.Val2431Ala)
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.730+3A>T rs762029774
NM_001042492.3(NF1):c.730+4A>G rs767510113
NM_001042492.3(NF1):c.730+5G>A rs1567826200
NM_001042492.3(NF1):c.730+6G>C rs1444298546
NM_001042492.3(NF1):c.730+6G>T
NM_001042492.3(NF1):c.7301A>C (p.Gln2434Pro)
NM_001042492.3(NF1):c.7302G>C (p.Gln2434His)
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.7304G>A (p.Ser2435Asn) rs2151572910
NM_001042492.3(NF1):c.7306G>C (p.Val2436Leu) rs876659856
NM_001042492.3(NF1):c.7309G>A (p.Ala2437Thr)
NM_001042492.3(NF1):c.730G>A (p.Glu244Lys) rs1567826188
NM_001042492.3(NF1):c.731-3C>G
NM_001042492.3(NF1):c.731-8del rs1438618408
NM_001042492.3(NF1):c.7310C>A (p.Ala2437Asp) rs2070078591
NM_001042492.3(NF1):c.7310C>T (p.Ala2437Val)
NM_001042492.3(NF1):c.7313A>G (p.Tyr2438Cys) rs876660597
NM_001042492.3(NF1):c.7315T>A (p.Leu2439Ile) rs1597858629
NM_001042492.3(NF1):c.7315T>G (p.Leu2439Val)
NM_001042492.3(NF1):c.7316T>C (p.Leu2439Ser) rs2070078996
NM_001042492.3(NF1):c.7317A>C (p.Leu2439Phe) rs1597858633
NM_001042492.3(NF1):c.7317AGC[1] (p.Ala2441del) rs1085307506
NM_001042492.3(NF1):c.731A>G (p.Glu244Gly)
NM_001042492.3(NF1):c.7321+3A>G rs1597858650
NM_001042492.3(NF1):c.7321+3A>T rs1597858650
NM_001042492.3(NF1):c.7321+4A>G rs1597858660
NM_001042492.3(NF1):c.7321+6A>G rs1597858669
NM_001042492.3(NF1):c.7322-14C>A
NM_001042492.3(NF1):c.7324T>A (p.Leu2442Ile)
NM_001042492.3(NF1):c.7327C>G (p.Leu2443Val)
NM_001042492.3(NF1):c.7330A>G (p.Thr2444Ala) rs2070103253
NM_001042492.3(NF1):c.7334T>C (p.Val2445Ala) rs1567623931
NM_001042492.3(NF1):c.7334T>G (p.Val2445Gly) rs1567623931
NM_001042492.3(NF1):c.7336T>G (p.Ser2446Ala) rs2151574285
NM_001042492.3(NF1):c.7339G>C (p.Glu2447Gln) rs878853914
NM_001042492.3(NF1):c.7340AAG[1] (p.Glu2448del) rs587781961
NM_001042492.3(NF1):c.7343A>C (p.Glu2448Ala) rs1597859599
NM_001042492.3(NF1):c.7343A>G (p.Glu2448Gly)
NM_001042492.3(NF1):c.7346T>C (p.Val2449Ala)
NM_001042492.3(NF1):c.734G>A (p.Cys245Tyr) rs587781869
NM_001042492.3(NF1):c.734G>C (p.Cys245Ser)
NM_001042492.3(NF1):c.734G>T (p.Cys245Phe) rs587781869
NM_001042492.3(NF1):c.7355G>A (p.Arg2452His) rs1555536122
NM_001042492.3(NF1):c.7355G>C (p.Arg2452Pro)
NM_001042492.3(NF1):c.7355G>T (p.Arg2452Leu) rs1555536122
NM_001042492.3(NF1):c.7357T>C (p.Cys2453Arg)
NM_001042492.3(NF1):c.7357_7359del (p.Cys2453del)
NM_001042492.3(NF1):c.7358G>A (p.Cys2453Tyr)
NM_001042492.3(NF1):c.7358G>T (p.Cys2453Phe)
NM_001042492.3(NF1):c.7361G>C (p.Ser2454Thr) rs1555536127
NM_001042492.3(NF1):c.7364T>C (p.Leu2455Pro) rs1555536128
NM_001042492.3(NF1):c.7366A>C (p.Lys2456Gln) rs2151574384
NM_001042492.3(NF1):c.7368A>C (p.Lys2456Asn) rs201287021
NM_001042492.3(NF1):c.7368A>T (p.Lys2456Asn) rs201287021
NM_001042492.3(NF1):c.7369C>T (p.His2457Tyr) rs768404575
NM_001042492.3(NF1):c.736G>T (p.Ala246Ser) rs1597659751
NM_001042492.3(NF1):c.7373G>A (p.Arg2458Lys) rs1555536130
NM_001042492.3(NF1):c.7373G>T (p.Arg2458Ile)
NM_001042492.3(NF1):c.7374A>C (p.Arg2458Ser) rs2070105352
NM_001042492.3(NF1):c.7379C>T (p.Ser2460Leu) rs2151574431
NM_001042492.3(NF1):c.7381C>G (p.Leu2461Val) rs1199046022
NM_001042492.3(NF1):c.7381C>T (p.Leu2461Phe) rs1199046022
NM_001042492.3(NF1):c.7381CTT[2] (p.Leu2463del) rs786203184
NM_001042492.3(NF1):c.7382T>A (p.Leu2461His) rs2070105653
NM_001042492.3(NF1):c.7382T>C (p.Leu2461Pro)
NM_001042492.3(NF1):c.7384C>A (p.Leu2462Ile)
NM_001042492.3(NF1):c.7385T>C (p.Leu2462Pro) rs1060500302
NM_001042492.3(NF1):c.7387C>G (p.Leu2463Val) rs2070105859
NM_001042492.3(NF1):c.7387C>T (p.Leu2463Phe)
NM_001042492.3(NF1):c.7390A>C (p.Thr2464Pro)
NM_001042492.3(NF1):c.7391C>A (p.Thr2464Asn)
NM_001042492.3(NF1):c.7391C>T (p.Thr2464Ile) rs1597859696
NM_001042492.3(NF1):c.7396A>C (p.Ile2466Leu) rs748027595
NM_001042492.3(NF1):c.7399T>G (p.Ser2467Ala)
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.740A>G (p.Glu247Gly) rs864622385
NM_001042492.3(NF1):c.740A>T (p.Glu247Val)
NM_001042492.3(NF1):c.7411G>A (p.Val2471Ile) rs876660126
NM_001042492.3(NF1):c.7412T>C (p.Val2471Ala)
NM_001042492.3(NF1):c.7414C>T (p.Pro2472Ser) rs2151574519
NM_001042492.3(NF1):c.7415C>G (p.Pro2472Arg) rs786202184
NM_001042492.3(NF1):c.7415C>T (p.Pro2472Leu) rs786202184
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.7421A>G (p.Asp2474Gly) rs2070107259
NM_001042492.3(NF1):c.7421A>T (p.Asp2474Val)
NM_001042492.3(NF1):c.7423A>G (p.Thr2475Ala) rs1597859789
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.7429C>G (p.Pro2477Ala) rs876658722
NM_001042492.3(NF1):c.7429C>T (p.Pro2477Ser) rs876658722
NM_001042492.3(NF1):c.742A>G (p.Lys248Glu) rs876658252
NM_001042492.3(NF1):c.7435C>T (p.His2479Tyr) rs587782119
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.7444G>T (p.Asp2482Tyr) rs2151574641
NM_001042492.3(NF1):c.7446C>A (p.Asp2482Glu) rs876660614
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.7448C>T (p.Pro2483Leu) rs2070108464
NM_001042492.3(NF1):c.744G>T (p.Lys248Asn)
NM_001042492.3(NF1):c.7450_7451delinsAT (p.Ser2484Ile)
NM_001042492.3(NF1):c.7454A>C (p.Tyr2485Ser)
NM_001042492.3(NF1):c.7456A>C (p.Arg2486=) rs752162999
NM_001042492.3(NF1):c.7456A>T (p.Arg2486Trp)
NM_001042492.3(NF1):c.7457+1G>C rs2151574698
NM_001042492.3(NF1):c.7457+3A>G rs1555536170
NM_001042492.3(NF1):c.7457+5G>A rs1555536171
NM_001042492.3(NF1):c.7457+5G>C
NM_001042492.3(NF1):c.7457G>T (p.Arg2486Met)
NM_001042492.3(NF1):c.7458-16T>A
NM_001042492.3(NF1):c.7458-339G>A rs2151576361
NM_001042492.3(NF1):c.7458-3C>A rs1158267419
NM_001042492.3(NF1):c.7458-3C>G rs1158267419
NM_001042492.3(NF1):c.7458-5T>G
NM_001042492.3(NF1):c.7458G>A (p.Arg2486=) rs2070166426
NM_001042492.3(NF1):c.7458G>T (p.Arg2486Ser) rs2070166426
NM_001042492.3(NF1):c.7459A>G (p.Thr2487Ala) rs2070166547
NM_001042492.3(NF1):c.745C>G (p.Leu249Val) rs2143785034
NM_001042492.3(NF1):c.7460C>T (p.Thr2487Ile) rs2070166606
NM_001042492.3(NF1):c.7462C>G (p.Leu2488Val) rs876660345
NM_001042492.3(NF1):c.7463T>C (p.Leu2488Pro) rs2070166801
NM_001042492.3(NF1):c.7465A>G (p.Lys2489Glu) rs1555536338
NM_001042492.3(NF1):c.7466A>C (p.Lys2489Thr) rs864622249
NM_001042492.3(NF1):c.7466A>G (p.Lys2489Arg) rs864622249
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.7472C>T (p.Thr2491Ile) rs2151576935
NM_001042492.3(NF1):c.7475A>T (p.Gln2492Leu)
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.7495_7496delinsCT (p.Gly2499Leu) rs2070167904
NM_001042492.3(NF1):c.7496G>A (p.Gly2499Asp) rs375176282
NM_001042492.3(NF1):c.7499C>A (p.Ser2500Tyr) rs2070168165
NM_001042492.3(NF1):c.749T>C (p.Phe250Ser)
NM_001042492.3(NF1):c.74C>G (p.Thr25Arg) rs1555604874
NM_001042492.3(NF1):c.74C>T (p.Thr25Ile) rs1555604874
NM_001042492.3(NF1):c.7504G>C (p.Gly2502Arg) rs1555536357
NM_001042492.3(NF1):c.7505G>T (p.Gly2502Val)
NM_001042492.3(NF1):c.7509C>T (p.Tyr2503=) rs1555536359
NM_001042492.3(NF1):c.750T>A (p.Phe250Leu) rs2143785091
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.7511T>C (p.Leu2504Pro) rs2151577076
NM_001042492.3(NF1):c.7513G>C (p.Ala2505Pro) rs786202955
NM_001042492.3(NF1):c.7514C>G (p.Ala2505Gly) rs1567625126
NM_001042492.3(NF1):c.7514C>T (p.Ala2505Val) rs1567625126
NM_001042492.3(NF1):c.7517C>A (p.Ala2506Asp)
NM_001042492.3(NF1):c.7519A>G (p.Thr2507Ala) rs1597862129
NM_001042492.3(NF1):c.7523A>T (p.Tyr2508Phe) rs762169098
NM_001042492.3(NF1):c.7525C>A (p.Pro2509Thr) rs886052803
NM_001042492.3(NF1):c.7526C>G (p.Pro2509Arg) rs786202146
NM_001042492.3(NF1):c.7526C>T (p.Pro2509Leu) rs786202146
NM_001042492.3(NF1):c.752A>G (p.Asp251Gly) rs2143785113
NM_001042492.3(NF1):c.7531G>A (p.Val2511Ile)
NM_001042492.3(NF1):c.7539G>C (p.Gln2513His) rs2070170345
NM_001042492.3(NF1):c.753C>G (p.Asp251Glu) rs1567826636
NM_001042492.3(NF1):c.7540A>G (p.Thr2514Ala) rs1597862168
NM_001042492.3(NF1):c.7543A>C (p.Ser2515Arg)
NM_001042492.3(NF1):c.7543A>G (p.Ser2515Gly) rs2070170553
NM_001042492.3(NF1):c.7544G>T (p.Ser2515Ile) rs1597862174
NM_001042492.3(NF1):c.7546C>T (p.Pro2516Ser) rs753977783
NM_001042492.3(NF1):c.7547C>A (p.Pro2516His)
NM_001042492.3(NF1):c.754T>G (p.Leu252Val)
NM_001042492.3(NF1):c.7550G>A (p.Arg2517Gln) rs755260088
NM_001042492.3(NF1):c.7550G>C (p.Arg2517Pro)
NM_001042492.3(NF1):c.7553C>A (p.Ala2518Asp) rs1060500265
NM_001042492.3(NF1):c.7564A>G (p.Met2522Val) rs1597862205
NM_001042492.3(NF1):c.7566G>A (p.Met2522Ile) rs2070171212
NM_001042492.3(NF1):c.7568G>A (p.Ser2523Asn)
NM_001042492.3(NF1):c.7568_7615+1494del
NM_001042492.3(NF1):c.7570C>G (p.Leu2524Val)
NM_001042492.3(NF1):c.7579G>A (p.Gly2527Arg) rs2151577333
NM_001042492.3(NF1):c.757G>A (p.Val253Met) rs786203607
NM_001042492.3(NF1):c.757G>C (p.Val253Leu) rs786203607
NM_001042492.3(NF1):c.757G>T (p.Val253Leu) rs786203607
NM_001042492.3(NF1):c.7580G>A (p.Gly2527Glu) rs2151577339
NM_001042492.3(NF1):c.7588T>C (p.Ser2530Pro) rs1567625190
NM_001042492.3(NF1):c.758T>A (p.Val253Glu) rs2066156105
NM_001042492.3(NF1):c.7593G>C (p.Gln2531His) rs2070172055
NM_001042492.3(NF1):c.7594G>A (p.Ala2532Thr) rs1555536373
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.7608G>T (p.Lys2536Asn) rs1597862283
NM_001042492.3(NF1):c.7609T>G (p.Leu2537Val)
NM_001042492.3(NF1):c.7610T>C (p.Leu2537Ser) rs876658670
NM_001042492.3(NF1):c.7615+1_7615+5dup
NM_001042492.3(NF1):c.7615+5G>A rs1555536382
NM_001042492.3(NF1):c.7615+6T>C
NM_001042492.3(NF1):c.7615G>A (p.Gly2539Arg)
NM_001042492.3(NF1):c.7616-13C>G
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.761A>G (p.Asp254Gly) rs2066156209
NM_001042492.3(NF1):c.7623_7625del (p.Lys2542del) rs2151581007
NM_001042492.3(NF1):c.7633G>T (p.Asp2545Tyr)
NM_001042492.3(NF1):c.7635T>A (p.Asp2545Glu) rs876659530
NM_001042492.3(NF1):c.7637A>C (p.His2546Pro)
NM_001042492.3(NF1):c.763G>A (p.Gly255Ser) rs773207833
NM_001042492.3(NF1):c.7642A>G (p.Ile2548Val) rs1555536636
NM_001042492.3(NF1):c.7642A>T (p.Ile2548Leu)
NM_001042492.3(NF1):c.7643T>A (p.Ile2548Lys) rs864622266
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.7660C>T (p.Pro2554Ser)
NM_001042492.3(NF1):c.7663A>G (p.Lys2555Glu) rs786203792
NM_001042492.3(NF1):c.7667G>T (p.Arg2556Met) rs1597865787
NM_001042492.3(NF1):c.7669C>G (p.Gln2557Glu) rs2151581157
NM_001042492.3(NF1):c.7670A>C (p.Gln2557Pro) rs2070273995
NM_001042492.3(NF1):c.7674A>T (p.Glu2558Asp)
NM_001042492.3(NF1):c.7676T>C (p.Met2559Thr) rs2070274119
NM_001042492.3(NF1):c.7684G>A (p.Gly2562Arg) rs1555536647
NM_001042492.3(NF1):c.7685G>T (p.Gly2562Val) rs2070274448
NM_001042492.3(NF1):c.7687A>C (p.Ile2563Leu) rs1555536648
NM_001042492.3(NF1):c.7687A>G (p.Ile2563Val) rs1555536648
NM_001042492.3(NF1):c.7688T>A (p.Ile2563Asn)
NM_001042492.3(NF1):c.768T>G (p.Phe256Leu) rs1597659838
NM_001042492.3(NF1):c.7690A>C (p.Thr2564Pro) rs2151581238
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.7694C>T (p.Thr2565Ile)
NM_001042492.3(NF1):c.7696C>A (p.Pro2566Thr)
NM_001042492.3(NF1):c.7696C>G (p.Pro2566Ala) rs2151581259
NM_001042492.3(NF1):c.7697C>T (p.Pro2566Leu) rs1218492217
NM_001042492.3(NF1):c.769G>C (p.Ala257Pro) rs2066156448
NM_001042492.3(NF1):c.76G>A (p.Gly26Arg) rs778973022
NM_001042492.3(NF1):c.7700C>A (p.Pro2567His) rs754511534
NM_001042492.3(NF1):c.7700C>G (p.Pro2567Arg) rs754511534
NM_001042492.3(NF1):c.7703A>C (p.Lys2568Thr)
NM_001042492.3(NF1):c.7704A>C (p.Lys2568Asn)
NM_001042492.3(NF1):c.7705A>G (p.Met2569Val) rs2070275038
NM_001042492.3(NF1):c.7706T>C (p.Met2569Thr) rs2151581300
NM_001042492.3(NF1):c.7706T>G (p.Met2569Arg)
NM_001042492.3(NF1):c.7708A>G (p.Arg2570Gly) rs786202086
NM_001042492.3(NF1):c.7709G>A (p.Arg2570Lys) rs2151581311
NM_001042492.3(NF1):c.770C>G (p.Ala257Gly)
NM_001042492.3(NF1):c.770C>T (p.Ala257Val) rs2143785365
NM_001042492.3(NF1):c.7711A>C (p.Arg2571=)
NM_001042492.3(NF1):c.7712G>A (p.Arg2571Lys) rs1597865842
NM_001042492.3(NF1):c.7712G>C (p.Arg2571Thr)
NM_001042492.3(NF1):c.7714G>C (p.Val2572Leu) rs1555536652
NM_001042492.3(NF1):c.7717G>A (p.Ala2573Thr) rs1555536654
NM_001042492.3(NF1):c.7718C>A (p.Ala2573Glu) rs2070275358
NM_001042492.3(NF1):c.7718C>G (p.Ala2573Gly)
NM_001042492.3(NF1):c.7724C>T (p.Thr2575Ile) rs1597865850
NM_001042492.3(NF1):c.7727A>G (p.Asp2576Gly) rs2151581354
NM_001042492.3(NF1):c.7729T>G (p.Tyr2577Asp)
NM_001042492.3(NF1):c.7735A>G (p.Met2579Val)
NM_001042492.3(NF1):c.7737G>A (p.Met2579Ile) rs587781834
NM_001042492.3(NF1):c.7738+3G>A rs771445239
NM_001042492.3(NF1):c.7738+6A>T rs2070275951
NM_001042492.3(NF1):c.7739-11T>G
NM_001042492.3(NF1):c.7739-19_7739-11del
NM_001042492.3(NF1):c.7739-3C>A rs747382969
NM_001042492.3(NF1):c.7739-3C>T rs747382969
NM_001042492.3(NF1):c.7741A>G (p.Thr2581Ala)
NM_001042492.3(NF1):c.7741A>T (p.Thr2581Ser) rs1597866308
NM_001042492.3(NF1):c.7744C>A (p.Gln2582Lys) rs587781651
NM_001042492.3(NF1):c.7744C>G (p.Gln2582Glu)
NM_001042492.3(NF1):c.7745A>G (p.Gln2582Arg) rs2151582173
NM_001042492.3(NF1):c.7748G>A (p.Arg2583Lys) rs2151582191
NM_001042492.3(NF1):c.7751T>G (p.Ile2584Ser) rs1597866331
NM_001042492.3(NF1):c.7754C>T (p.Ser2585Phe)
NM_001042492.3(NF1):c.7762C>G (p.Gln2588Glu)
NM_001042492.3(NF1):c.7763A>G (p.Gln2588Arg)
NM_001042492.3(NF1):c.7763A>T (p.Gln2588Leu)
NM_001042492.3(NF1):c.7767G>C (p.Gln2589His) rs587782168
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>A (p.Ser259Asn) rs2066156591
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>G (p.His2592Arg)
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.7776T>G (p.His2592Gln)
NM_001042492.3(NF1):c.7781G>C (p.Arg2594Pro)
NM_001042492.3(NF1):c.7781G>T (p.Arg2594Leu) rs774781617
NM_001042492.3(NF1):c.7783A>G (p.Lys2595Glu) rs2151582291
NM_001042492.3(NF1):c.7786G>A (p.Val2596Ile)
NM_001042492.3(NF1):c.7789T>C (p.Ser2597Pro) rs864622364
NM_001042492.3(NF1):c.778A>G (p.Thr260Ala) rs1466892954
NM_001042492.3(NF1):c.7792G>A (p.Val2598Met)
NM_001042492.3(NF1):c.7792G>C (p.Val2598Leu)
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.77G>A (p.Gly26Glu) rs2143625375
NM_001042492.3(NF1):c.7804A>G (p.Asn2602Asp) rs150657839
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.7807G>C (p.Val2603Leu) rs766135206
NM_001042492.3(NF1):c.7808T>C (p.Val2603Ala) rs1597866454
NM_001042492.3(NF1):c.7810C>T (p.Leu2604Phe) rs776602307
NM_001042492.3(NF1):c.7815G>A (p.Leu2605=) rs1555536703
NM_001042492.3(NF1):c.7816G>A (p.Asp2606Asn) rs2151582401
NM_001042492.3(NF1):c.7818T>A (p.Asp2606Glu)
NM_001042492.3(NF1):c.781A>C (p.Lys261Gln) rs2066156804
NM_001042492.3(NF1):c.7820A>C (p.Glu2607Ala) rs1597866483
NM_001042492.3(NF1):c.7820A>G (p.Glu2607Gly) rs1597866483
NM_001042492.3(NF1):c.7820AAG[1] (p.Glu2608del) rs2070288954
NM_001042492.3(NF1):c.7822G>A (p.Glu2608Lys) rs1597866487
NM_001042492.3(NF1):c.7823A>G (p.Glu2608Gly) rs2070289110
NM_001042492.3(NF1):c.7823A>T (p.Glu2608Val)
NM_001042492.3(NF1):c.7824A>T (p.Glu2608Asp) rs1567626984
NM_001042492.3(NF1):c.7825G>C (p.Val2609Leu) rs786203848
NM_001042492.3(NF1):c.7826T>C (p.Val2609Ala)
NM_001042492.3(NF1):c.7828C>G (p.Leu2610Val)
NM_001042492.3(NF1):c.7828C>T (p.Leu2610Phe)
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.7840A>G (p.Lys2614Glu)
NM_001042492.3(NF1):c.7842G>T (p.Lys2614Asn) rs1555536710
NM_001042492.3(NF1):c.7844T>A (p.Ile2615Asn) rs1555536711
NM_001042492.3(NF1):c.7844T>G (p.Ile2615Ser)
NM_001042492.3(NF1):c.7845_7847del (p.Ile2615_Gln2616delinsMet) rs2070290251
NM_001042492.3(NF1):c.7846C>G (p.Gln2616Glu) rs1555536713
NM_001042492.3(NF1):c.7847A>G (p.Gln2616Arg) rs876659308
NM_001042492.3(NF1):c.784C>T (p.Arg262Cys) rs754343223
NM_001042492.3(NF1):c.7855C>T (p.Leu2619Phe) rs781437770
NM_001042492.3(NF1):c.7855CTT[1] (p.Leu2620del)
NM_001042492.3(NF1):c.7856T>G (p.Leu2619Arg) rs916881278
NM_001042492.3(NF1):c.7859T>G (p.Leu2620Arg) rs2151582531
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+4A>G rs1567627046
NM_001042492.3(NF1):c.7869+5G>A rs1555536725
NM_001042492.3(NF1):c.7869+5G>C rs1555536725
NM_001042492.3(NF1):c.7869A>G (p.Leu2623=) rs876659536
NM_001042492.3(NF1):c.7870-13dup rs369360556
NM_001042492.3(NF1):c.7870-19C>G
NM_001042492.3(NF1):c.7870-20A>G rs574898272
NM_001042492.3(NF1):c.7870-3C>T rs1597866792
NM_001042492.3(NF1):c.7870-5G>T rs1169181885
NM_001042492.3(NF1):c.7870-6T>A rs2151583143
NM_001042492.3(NF1):c.7870G>A (p.Ala2624Thr) rs1597866802
NM_001042492.3(NF1):c.7870G>C (p.Ala2624Pro) 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.7877T>A (p.Leu2626Gln) rs2151583174
NM_001042492.3(NF1):c.7888A>G (p.Thr2630Ala) rs1567627155
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.7902T>A (p.Phe2634Leu) rs2151583253
NM_001042492.3(NF1):c.7903G>A (p.Asp2635Asn) rs2151583254
NM_001042492.3(NF1):c.7904A>T (p.Asp2635Val) rs2070297198
NM_001042492.3(NF1):c.7905T>A (p.Asp2635Glu)
NM_001042492.3(NF1):c.7905T>G (p.Asp2635Glu)
NM_001042492.3(NF1):c.7906C>G (p.Gln2636Glu)
NM_001042492.3(NF1):c.7907A>C (p.Gln2636Pro) rs1597866867
NM_001042492.3(NF1):c.790G>A (p.Ala264Thr)
NM_001042492.3(NF1):c.7910G>T (p.Arg2637Leu) rs560262404
NM_001042492.3(NF1):c.7912A>C (p.Ile2638Leu)
NM_001042492.3(NF1):c.7912A>G (p.Ile2638Val) rs2151583282
NM_001042492.3(NF1):c.7913T>G (p.Ile2638Ser) rs2151583287
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>G (p.Leu2639Val) rs1057518362
NM_001042492.3(NF1):c.7915C>T (p.Leu2639Phe) rs1057518362
NM_001042492.3(NF1):c.7919A>G (p.Tyr2640Cys) rs1597866901
NM_001042492.3(NF1):c.7919A>T (p.Tyr2640Phe) rs1597866901
NM_001042492.3(NF1):c.791C>T (p.Ala264Val) rs2143785708
NM_001042492.3(NF1):c.7921G>A (p.Glu2641Lys) rs2151583310
NM_001042492.3(NF1):c.7922A>C (p.Glu2641Ala) rs876658205
NM_001042492.3(NF1):c.7922A>G (p.Glu2641Gly)
NM_001042492.3(NF1):c.7922A>T (p.Glu2641Val) rs876658205
NM_001042492.3(NF1):c.7930G>C (p.Ala2644Pro) rs2070298197
NM_001042492.3(NF1):c.7933G>A (p.Glu2645Lys)
NM_001042492.3(NF1):c.7934A>G (p.Glu2645Gly)
NM_001042492.3(NF1):c.7937C>T (p.Ala2646Val)
NM_001042492.3(NF1):c.7940G>A (p.Ser2647Asn)
NM_001042492.3(NF1):c.7943T>C (p.Val2648Ala)
NM_001042492.3(NF1):c.7945G>A (p.Val2649Met) rs1555536761
NM_001042492.3(NF1):c.7945G>C (p.Val2649Leu) rs1555536761
NM_001042492.3(NF1):c.7946T>G (p.Val2649Gly)
NM_001042492.3(NF1):c.7948T>C (p.Phe2650Leu)
NM_001042492.3(NF1):c.7948T>G (p.Phe2650Val)
NM_001042492.3(NF1):c.7949T>G (p.Phe2650Cys) rs754443238
NM_001042492.3(NF1):c.794C>T (p.Ala265Val)
NM_001042492.3(NF1):c.7954A>G (p.Lys2652Glu)
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>A (p.Pro2655Thr) rs587781791
NM_001042492.3(NF1):c.7963C>G (p.Pro2655Ala) rs587781791
NM_001042492.3(NF1):c.7963C>T (p.Pro2655Ser) rs587781791
NM_001042492.3(NF1):c.7964C>T (p.Pro2655Leu) rs2070299592
NM_001042492.3(NF1):c.7966G>A (p.Val2656Ile)
NM_001042492.3(NF1):c.7969G>A (p.Val2657Met)
NM_001042492.3(NF1):c.7969G>C (p.Val2657Leu) rs1597867034
NM_001042492.3(NF1):c.796G>A (p.Val266Ile) rs2066157267
NM_001042492.3(NF1):c.7970+3A>G rs1567627282
NM_001042492.3(NF1):c.7970+3_7970+4del rs2151583488
NM_001042492.3(NF1):c.7970+4_7970+7del rs1064794279
NM_001042492.3(NF1):c.7970+5G>A rs1567627286
NM_001042492.3(NF1):c.7970+6T>G rs1555536775
NM_001042492.3(NF1):c.7970+7A>G rs1597867052
NM_001042492.3(NF1):c.7971-1G>T rs1417908560
NM_001042492.3(NF1):c.7971-3T>G rs2151584771
NM_001042492.3(NF1):c.7971-4T>G rs1555536865
NM_001042492.3(NF1):c.7972C>A (p.His2658Asn) rs1555536868
NM_001042492.3(NF1):c.7975A>C (p.Asn2659His) rs1177245412
NM_001042492.3(NF1):c.7976A>C (p.Asn2659Thr) rs1597868051
NM_001042492.3(NF1):c.797T>G (p.Val266Gly) rs2143785789
NM_001042492.3(NF1):c.7981T>G (p.Leu2661Val)
NM_001042492.3(NF1):c.7987T>A (p.Ser2663Thr) rs2151584821
NM_001042492.3(NF1):c.7988C>A (p.Ser2663Tyr)
NM_001042492.3(NF1):c.7988C>G (p.Ser2663Cys) rs786202579
NM_001042492.3(NF1):c.7988C>T (p.Ser2663Phe) rs786202579
NM_001042492.3(NF1):c.7990A>G (p.Lys2664Glu)
NM_001042492.3(NF1):c.7992G>C (p.Lys2664Asn) rs1060500377
NM_001042492.3(NF1):c.7992G>T (p.Lys2664Asn)
NM_001042492.3(NF1):c.7995C>G (p.Ile2665Met) rs1037082087
NM_001042492.3(NF1):c.7996A>G (p.Asn2666Asp) rs1555536888
NM_001042492.3(NF1):c.7997A>G (p.Asn2666Ser)
NM_001042492.3(NF1):c.7999A>G (p.Thr2667Ala) rs995645937
NM_001042492.3(NF1):c.7999A>T (p.Thr2667Ser)
NM_001042492.3(NF1):c.799_802del (p.Trp267fs) rs1567826683
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>A (p.Leu2668Met) rs1060503905
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.8009C>T (p.Ser2670Leu) rs1131691074
NM_001042492.3(NF1):c.8009_8011del (p.Ser2670del)
NM_001042492.3(NF1):c.8011T>A (p.Leu2671Met) rs2070326229
NM_001042492.3(NF1):c.8020G>A (p.Asp2674Asn) rs1597868123
NM_001042492.3(NF1):c.8023C>A (p.Pro2675Thr) rs1597868132
NM_001042492.3(NF1):c.8024C>T (p.Pro2675Leu) rs1260740048
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.8036A>C (p.Asn2679Thr)
NM_001042492.3(NF1):c.8039C>G (p.Pro2680Arg) rs2151584968
NM_001042492.3(NF1):c.8039C>T (p.Pro2680Leu)
NM_001042492.3(NF1):c.803C>A (p.Pro268Gln) rs1441060549
NM_001042492.3(NF1):c.803C>G (p.Pro268Arg)
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.8048G>A (p.Gly2683Glu) rs2070327151
NM_001042492.3(NF1):c.8048G>C (p.Gly2683Ala)
NM_001042492.3(NF1):c.8050A>C (p.Ile2684Leu) rs1555536913
NM_001042492.3(NF1):c.8057A>G (p.Gln2686Arg) rs890017184
NM_001042492.3(NF1):c.8058G>C (p.Gln2686His)
NM_001042492.3(NF1):c.8059A>T (p.Ser2687Cys) rs2070327470
NM_001042492.3(NF1):c.8060G>T (p.Ser2687Ile) rs1555536916
NM_001042492.3(NF1):c.8062G>A (p.Val2688Met)
NM_001042492.3(NF1):c.8062G>T (p.Val2688Leu) rs1567627780
NM_001042492.3(NF1):c.8065G>A (p.Val2689Met) rs761214867
NM_001042492.3(NF1):c.8072A>G (p.His2691Arg) rs1597868213
NM_001042492.3(NF1):c.8075A>T (p.Glu2692Val)
NM_001042492.3(NF1):c.8080T>A (p.Ser2694Thr) rs876658554
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.8086C>A (p.Pro2696Thr) rs764508546
NM_001042492.3(NF1):c.8086C>T (p.Pro2696Ser)
NM_001042492.3(NF1):c.8087C>G (p.Pro2696Arg) rs1597868252
NM_001042492.3(NF1):c.808C>G (p.Gln270Glu) rs1555608970
NM_001042492.3(NF1):c.8090A>C (p.Gln2697Pro) rs2151585121
NM_001042492.3(NF1):c.8091A>C (p.Gln2697His)
NM_001042492.3(NF1):c.8095C>G (p.Gln2699Glu) rs786203443
NM_001042492.3(NF1):c.809A>G (p.Gln270Arg) rs1597659939
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.8108T>C (p.Leu2703Pro)
NM_001042492.3(NF1):c.810A>G (p.Gln270=) rs2066157647
NM_001042492.3(NF1):c.8111A>C (p.Gln2704Pro) rs2151585162
NM_001042492.3(NF1):c.8113+12T>C
NM_001042492.3(NF1):c.8113+6T>G
NM_001042492.3(NF1):c.8113+93A>T
NM_001042492.3(NF1):c.8113A>G (p.Ser2705Gly) rs1597868305
NM_001042492.3(NF1):c.8114-3C>G
NM_001042492.3(NF1):c.8114G>A (p.Ser2705Asn)
NM_001042492.3(NF1):c.8124T>A (p.Phe2708Leu) rs2151585975
NM_001042492.3(NF1):c.8126A>G (p.Asn2709Ser) rs2070339296
NM_001042492.3(NF1):c.8128G>A (p.Gly2710Ser)
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.8139dup (p.Phe2714fs) rs1567628013
NM_001042492.3(NF1):c.8141T>A (p.Phe2714Tyr) rs2151586035
NM_001042492.3(NF1):c.8143G>A (p.Ala2715Thr) rs2070340047
NM_001042492.3(NF1):c.8144C>T (p.Ala2715Val) rs1597868802
NM_001042492.3(NF1):c.8148A>T (p.Gly2716=) rs2151586062
NM_001042492.3(NF1):c.814A>G (p.Ile272Val) rs1555608971
NM_001042492.3(NF1):c.814_819del (p.Ile272_Leu273del) rs2143785976
NM_001042492.3(NF1):c.8152T>C (p.Phe2718Leu)
NM_001042492.3(NF1):c.8156C>T (p.Ser2719Leu)
NM_001042492.3(NF1):c.8158A>G (p.Lys2720Glu) rs1597868832
NM_001042492.3(NF1):c.8160+2T>G rs1135402909
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>A (p.Lys2720=) rs1555537030
NM_001042492.3(NF1):c.8160G>C (p.Lys2720Asn) rs1555537030
NM_001042492.3(NF1):c.8161-3C>T rs786203684
NM_001042492.3(NF1):c.8161-4A>G rs2151587589
NM_001042492.3(NF1):c.8161C>G (p.Gln2721Glu) rs2070372971
NM_001042492.3(NF1):c.8162A>G (p.Gln2721Arg) rs876657933
NM_001042492.3(NF1):c.8163A>C (p.Gln2721His)
NM_001042492.3(NF1):c.8176G>A (p.Asp2726Asn) rs1135402910
NM_001042492.3(NF1):c.8177A>G (p.Asp2726Gly)
NM_001042492.3(NF1):c.8179T>C (p.Tyr2727His) rs876660178
NM_001042492.3(NF1):c.8183C>T (p.Ala2728Val) rs760973918
NM_001042492.3(NF1):c.8188C>T (p.Leu2730Phe) rs2151587710
NM_001042492.3(NF1):c.8198A>C (p.Lys2733Thr) rs2070373730
NM_001042492.3(NF1):c.8203C>G (p.Leu2735Val)
NM_001042492.3(NF1):c.8206G>A (p.Asp2736Asn) rs1597870148
NM_001042492.3(NF1):c.8207A>G (p.Asp2736Gly)
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.8215A>G (p.Ile2739Val)
NM_001042492.3(NF1):c.8217_8218delinsAA (p.Asp2740Asn)
NM_001042492.3(NF1):c.8218G>A (p.Asp2740Asn) rs1555537228
NM_001042492.3(NF1):c.821T>A (p.Leu274His) rs2066157974
NM_001042492.3(NF1):c.821T>C (p.Leu274Pro) rs2066157974
NM_001042492.3(NF1):c.821T>G (p.Leu274Arg) rs2066157974
NM_001042492.3(NF1):c.8220C>G (p.Asp2740Glu) rs2070374242
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.8231C>G (p.Pro2744Arg)
NM_001042492.3(NF1):c.8239G>A (p.Asp2747Asn) rs745472917
NM_001042492.3(NF1):c.823A>C (p.Ile275Leu) rs786202464
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.8240A>G (p.Asp2747Gly) rs2151587891
NM_001042492.3(NF1):c.8241T>A (p.Asp2747Glu)
NM_001042492.3(NF1):c.8243A>C (p.Glu2748Ala)
NM_001042492.3(NF1):c.8244A>T (p.Glu2748Asp) rs878853919
NM_001042492.3(NF1):c.8248A>G (p.Thr2750Ala)
NM_001042492.3(NF1):c.8249C>G (p.Thr2750Ser) rs2070374835
NM_001042492.3(NF1):c.8249C>T (p.Thr2750Ile)
NM_001042492.3(NF1):c.8252G>A (p.Ser2751Asn) rs2151587925
NM_001042492.3(NF1):c.8252G>T (p.Ser2751Ile) rs2151587925
NM_001042492.3(NF1):c.8259A>C (p.Glu2753Asp) rs2070374976
NM_001042492.3(NF1):c.825C>G (p.Ile275Met)
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.8263C>T (p.Leu2755Phe)
NM_001042492.3(NF1):c.8267T>A (p.Leu2756Gln) rs1555537241
NM_001042492.3(NF1):c.8267T>G (p.Leu2756Arg) rs1555537241
NM_001042492.3(NF1):c.8269A>G (p.Thr2757Ala)
NM_001042492.3(NF1):c.8269_8293dup (p.Ala2765fs) rs2151587957
NM_001042492.3(NF1):c.8270C>T (p.Thr2757Ile) rs1555537244
NM_001042492.3(NF1):c.8270_8294dup (p.Leu2766fs) rs1597870232
NM_001042492.3(NF1):c.8273C>G (p.Pro2758Arg) rs2151588007
NM_001042492.3(NF1):c.8276C>T (p.Thr2759Ile)
NM_001042492.3(NF1):c.8278T>G (p.Ser2760Ala) rs2151588025
NM_001042492.3(NF1):c.827T>C (p.Leu276Ser)
NM_001042492.3(NF1):c.8281C>T (p.Pro2761Ser) rs2151588032
NM_001042492.3(NF1):c.8285A>C (p.Tyr2762Ser) rs1597870238
NM_001042492.3(NF1):c.8287C>A (p.Pro2763Thr) rs2070375557
NM_001042492.3(NF1):c.8288C>A (p.Pro2763His) rs878853920
NM_001042492.3(NF1):c.8290C>T (p.Pro2764Ser)
NM_001042492.3(NF1):c.8293G>C (p.Ala2765Pro)
NM_001042492.3(NF1):c.8294C>T (p.Ala2765Val)
NM_001042492.3(NF1):c.829T>C (p.Cys277Arg)
NM_001042492.3(NF1):c.8300A>G (p.Gln2767Arg) rs2151588076
NM_001042492.3(NF1):c.8301_8322dup (p.Asn2775delinsGluProAlaTer) rs1597870268
NM_001042492.3(NF1):c.8303G>T (p.Ser2768Ile) rs2151588087
NM_001042492.3(NF1):c.8307G>C (p.Gln2769His)
NM_001042492.3(NF1):c.830G>A (p.Cys277Tyr) rs2066158274
NM_001042492.3(NF1):c.8312G>C (p.Ser2771Thr) rs2070376310
NM_001042492.3(NF1):c.8314A>G (p.Ile2772Val) rs762336662
NM_001042492.3(NF1):c.8318C>T (p.Thr2773Ile) rs1597870290
NM_001042492.3(NF1):c.8321C>T (p.Ala2774Val)
NM_001042492.3(NF1):c.8323A>T (p.Asn2775Tyr) rs1555537252
NM_001042492.3(NF1):c.8324A>C (p.Asn2775Thr) rs772090874
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.8336C>G (p.Ser2779Cys)
NM_001042492.3(NF1):c.8340T>G (p.Asn2780Lys)
NM_001042492.3(NF1):c.8348C>T (p.Thr2783Ile)
NM_001042492.3(NF1):c.8350_8351del (p.Ser2784fs)
NM_001042492.3(NF1):c.8357C>T (p.Ala2786Val) rs2070377037
NM_001042492.3(NF1):c.835G>C (p.Glu279Gln)
NM_001042492.3(NF1):c.8360C>T (p.Thr2787Ile)
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.8366A>G (p.Gln2789Arg) rs1454723879
NM_001042492.3(NF1):c.8366A>T (p.Gln2789Leu) rs1454723879
NM_001042492.3(NF1):c.8369A>T (p.His2790Leu)
NM_001042492.3(NF1):c.8372C>T (p.Ser2791Phe) rs1597870350
NM_001042492.3(NF1):c.8374C>T (p.Pro2792Ser) rs2070377546
NM_001042492.3(NF1):c.8375C>T (p.Pro2792Leu)
NM_001042492.3(NF1):c.8376A>C (p.Pro2792=) rs1028961967
NM_001042492.3(NF1):c.8377+4A>C
NM_001042492.3(NF1):c.8377+5G>A
NM_001042492.3(NF1):c.8377+6T>C
NM_001042492.3(NF1):c.8378-13T>C rs903336927
NM_001042492.3(NF1):c.8378-3C>T
NM_001042492.3(NF1):c.8378-5214A>G
NM_001042492.3(NF1):c.8380A>G (p.Ile2794Val) rs2151601231
NM_001042492.3(NF1):c.8381T>C (p.Ile2794Thr) rs2151601235
NM_001042492.3(NF1):c.8381T>G (p.Ile2794Ser)
NM_001042492.3(NF1):c.8383G>A (p.Asp2795Asn) rs1475978079
NM_001042492.3(NF1):c.8383G>C (p.Asp2795His) rs1475978079
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.8392A>T (p.Asn2798Tyr) rs1555538514
NM_001042492.3(NF1):c.8393A>G (p.Asn2798Ser) rs1555538515
NM_001042492.3(NF1):c.8394C>G (p.Asn2798Lys) rs376136174
NM_001042492.3(NF1):c.8395G>C (p.Val2799Leu) rs377393842
NM_001042492.3(NF1):c.8395G>T (p.Val2799Phe) rs377393842
NM_001042492.3(NF1):c.8396T>C (p.Val2799Ala) rs2070695501
NM_001042492.3(NF1):c.8398G>A (p.Glu2800Lys) rs1597882991
NM_001042492.3(NF1):c.8398G>C (p.Glu2800Gln) rs1597882991
NM_001042492.3(NF1):c.8399A>C (p.Glu2800Ala) rs753479281
NM_001042492.3(NF1):c.839T>C (p.Ile280Thr) rs1555608976
NM_001042492.3(NF1):c.8404T>C (p.Ser2802Pro) rs1597883017
NM_001042492.3(NF1):c.8405C>A (p.Ser2802Tyr) rs754638282
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.8408C>T (p.Pro2803Leu) rs2151601322
NM_001042492.3(NF1):c.8412C>T (p.Thr2804=) rs1555538531
NM_001042492.3(NF1):c.8420A>G (p.His2807Arg) rs2070695954
NM_001042492.3(NF1):c.8420A>T (p.His2807Leu) rs2070695954
NM_001042492.3(NF1):c.8421C>A (p.His2807Gln) rs1326795798
NM_001042492.3(NF1):c.8421C>G (p.His2807Gln)
NM_001042492.3(NF1):c.8422T>C (p.Cys2808Arg) rs1597883056
NM_001042492.3(NF1):c.8422_8427del (p.Cys2808_Asn2809del) rs2070696010
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.8429G>A (p.Ser2810Asn)
NM_001042492.3(NF1):c.8434C>T (p.Arg2812Ter)
NM_001042492.3(NF1):c.8437A>T (p.Thr2813Ser) rs1597883075
NM_001042492.3(NF1):c.8438C>G (p.Thr2813Ser) rs2070696371
NM_001042492.3(NF1):c.8438C>T (p.Thr2813Ile)
NM_001042492.3(NF1):c.8440C>T (p.Arg2814Cys) rs876658139
NM_001042492.3(NF1):c.8443C>T (p.His2815Tyr) rs2070696484
NM_001042492.3(NF1):c.8444A>C (p.His2815Pro)
NM_001042492.3(NF1):c.8445C>A (p.His2815Gln) rs1597883082
NM_001042492.3(NF1):c.8448A>G (p.Gly2816=) rs2070696565
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.8458C>G (p.Gln2820Glu) rs2151601501
NM_001042492.3(NF1):c.8461G>A (p.Val2821Met) rs1567634549
NM_001042492.3(NF1):c.8465A>G (p.Gln2822Arg)
NM_001042492.3(NF1):c.8465A>T (p.Gln2822Leu)
NM_001042492.3(NF1):c.8467A>G (p.Lys2823Glu) rs2151601529
NM_001042492.3(NF1):c.8469G>A (p.Lys2823=) rs1203883572
NM_001042492.3(NF1):c.8469G>T (p.Lys2823Asn) rs1203883572
NM_001042492.3(NF1):c.8471A>C (p.Gln2824Pro)
NM_001042492.3(NF1):c.8471A>G (p.Gln2824Arg)
NM_001042492.3(NF1):c.8472A>C (p.Gln2824His)
NM_001042492.3(NF1):c.8475A>C (p.Arg2825Ser)
NM_001042492.3(NF1):c.8477G>C (p.Ser2826Thr) rs1057523477
NM_001042492.3(NF1):c.8477G>T (p.Ser2826Ile)
NM_001042492.3(NF1):c.8479G>A (p.Ala2827Thr) rs199878086
NM_001042492.3(NF1):c.847G>A (p.Asp283Asn) rs200572531
NM_001042492.3(NF1):c.847G>C (p.Asp283His)
NM_001042492.3(NF1):c.8482G>A (p.Gly2828Ser) rs2070697456
NM_001042492.3(NF1):c.8485A>G (p.Ser2829Gly)
NM_001042492.3(NF1):c.8486G>A (p.Ser2829Asn)
NM_001042492.3(NF1):c.8489_8493del (p.Phe2830fs)
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.8494C>A (p.Arg2832Ser)
NM_001042492.3(NF1):c.8495G>T (p.Arg2832Leu)
NM_001042492.3(NF1):c.8497A>C (p.Asn2833His) rs786202863
NM_001042492.3(NF1):c.8498A>G (p.Asn2833Ser) rs1567634576
NM_001042492.3(NF1):c.8498dup (p.Asn2833fs)
NM_001042492.3(NF1):c.8499T>G (p.Asn2833Lys) rs142636150
NM_001042492.3(NF1):c.8500A>C (p.Ser2834Arg)
NM_001042492.3(NF1):c.8501G>A (p.Ser2834Asn)
NM_001042492.3(NF1):c.8501G>C (p.Ser2834Thr)
NM_001042492.3(NF1):c.8501G>T (p.Ser2834Ile) rs2151601621
NM_001042492.3(NF1):c.8502C>G (p.Ser2834Arg)
NM_001042492.3(NF1):c.8503A>C (p.Ile2835Leu)
NM_001042492.3(NF1):c.8503A>G (p.Ile2835Val) rs2151601629
NM_001042492.3(NF1):c.8507AGA[1] (p.Lys2837del) rs1555538565
NM_001042492.3(NF1):c.8509A>C (p.Lys2837Gln) rs2070698110
NM_001042492.3(NF1):c.8511G>T (p.Lys2837Asn)
NM_001042492.3(NF1):c.8512A>T (p.Ile2838Phe)
NM_001042492.3(NF1):c.8514C>G (p.Ile2838Met) rs1567634589
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.8516T>C (p.Val2839Ala) rs2151601671
NM_001042492.3(NF1):c.851T>C (p.Ile284Thr) rs2066158910
NM_001042492.3(NF1):c.852A>G (p.Ile284Met) rs1567826762
NM_001042492.3(NF1):c.854C>T (p.Ser285Phe) rs2066159067
NM_001042492.3(NF1):c.861C>A (p.Asp287Glu)
NM_001042492.3(NF1):c.862G>C (p.Val288Leu)
NM_001042492.3(NF1):c.865G>A (p.Val289Ile) rs1326607708
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.86A>G (p.Asn29Ser)
NM_001042492.3(NF1):c.871G>A (p.Glu291Lys) rs2143786875
NM_001042492.3(NF1):c.872A>C (p.Glu291Ala) rs876660171
NM_001042492.3(NF1):c.875A>C (p.Asn292Thr) rs2143786939
NM_001042492.3(NF1):c.875A>G (p.Asn292Ser)
NM_001042492.3(NF1):c.877A>G (p.Asn293Asp) rs2143786964
NM_001042492.3(NF1):c.87C>A (p.Asn29Lys)
NM_001042492.3(NF1):c.880A>G (p.Met294Val) rs1597660112
NM_001042492.3(NF1):c.884A>G (p.Asn295Ser) rs1555608994
NM_001042492.3(NF1):c.885T>A (p.Asn295Lys) rs864622300
NM_001042492.3(NF1):c.886A>G (p.Lys296Glu)
NM_001042492.3(NF1):c.886A>T (p.Lys296Ter) rs1135402798
NM_001042492.3(NF1):c.888+2T>C rs2066160116
NM_001042492.3(NF1):c.888+652G>A
NM_001042492.3(NF1):c.888+6G>A rs1555609000
NM_001042492.3(NF1):c.888+744A>G rs1597660915
NM_001042492.3(NF1):c.888+789A>G rs1597660974
NM_001042492.3(NF1):c.888G>A (p.Lys296=) rs1597660134
NM_001042492.3(NF1):c.889-11_889-6delinsAAATT rs2143871690
NM_001042492.3(NF1):c.889-18T>G
NM_001042492.3(NF1):c.889-21C>A rs753797445
NM_001042492.3(NF1):c.889-2A>G rs878853922
NM_001042492.3(NF1):c.889-458T>C rs2143869041
NM_001042492.3(NF1):c.889-5del rs1555610837
NM_001042492.3(NF1):c.889-6C>G
NM_001042492.3(NF1):c.889-8T>G rs1452485831
NM_001042492.3(NF1):c.889-9A>G
NM_001042492.3(NF1):c.889A>C (p.Lys297Gln) rs786202384
NM_001042492.3(NF1):c.88A>C (p.Thr30Pro) rs1555604881
NM_001042492.3(NF1):c.88A>G (p.Thr30Ala)
NM_001042492.3(NF1):c.893T>C (p.Leu298Ser)
NM_001042492.3(NF1):c.894A>C (p.Leu298Phe)
NM_001042492.3(NF1):c.894A>T (p.Leu298Phe)
NM_001042492.3(NF1):c.895T>C (p.Phe299Leu) rs2143872037
NM_001042492.3(NF1):c.899T>C (p.Leu300Pro) rs2066505649
NM_001042492.3(NF1):c.901G>A (p.Asp301Asn) rs2066505718
NM_001042492.3(NF1):c.901G>C (p.Asp301His)
NM_001042492.3(NF1):c.902A>T (p.Asp301Val)
NM_001042492.3(NF1):c.903C>G (p.Asp301Glu)
NM_001042492.3(NF1):c.905G>A (p.Ser302Asn) rs786202746
NM_001042492.3(NF1):c.907C>G (p.Leu303Val) rs1555610847
NM_001042492.3(NF1):c.908T>C (p.Leu303Pro)
NM_001042492.3(NF1):c.910C>G (p.Arg304Gly) rs786203950
NM_001042492.3(NF1):c.911G>T (p.Arg304Leu) rs76015786
NM_001042492.3(NF1):c.913A>G (p.Lys305Glu) rs1567835041
NM_001042492.3(NF1):c.917C>T (p.Ala306Val) rs1597680783
NM_001042492.3(NF1):c.919C>T (p.Leu307Phe)
NM_001042492.3(NF1):c.91C>G (p.His31Asp) rs786202864
NM_001042492.3(NF1):c.922_923delinsTT (p.Ala308Phe) rs1597680797
NM_001042492.3(NF1):c.923C>G (p.Ala308Gly) rs876660836
NM_001042492.3(NF1):c.923C>T (p.Ala308Val)
NM_001042492.3(NF1):c.925G>A (p.Gly309Ser)
NM_001042492.3(NF1):c.925_926delinsAT (p.Gly309Ile)
NM_001042492.3(NF1):c.926G>A (p.Gly309Asp) rs1555610862
NM_001042492.3(NF1):c.926G>T (p.Gly309Val)
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.930T>G (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.937A>G (p.Ser313Gly) rs373320953
NM_001042492.3(NF1):c.938G>C (p.Ser313Thr) rs2066506773
NM_001042492.3(NF1):c.938G>T (p.Ser313Ile)
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.955A>G (p.Ser319Gly)
NM_001042492.3(NF1):c.958G>C (p.Ala320Pro) rs2066507272
NM_001042492.3(NF1):c.958_959delinsTT (p.Ala320Phe)
NM_001042492.3(NF1):c.959C>A (p.Ala320Asp) rs1555610884
NM_001042492.3(NF1):c.95C>A (p.Thr32Asn) rs2065655236
NM_001042492.3(NF1):c.961G>C (p.Ala321Pro) rs2066507408
NM_001042492.3(NF1):c.962C>T (p.Ala321Val) rs2143873023
NM_001042492.3(NF1):c.965T>C (p.Ile322Thr) rs1417994243
NM_001042492.3(NF1):c.967G>A (p.Ala323Thr) rs2143873082
NM_001042492.3(NF1):c.971G>T (p.Cys324Phe)
NM_001042492.3(NF1):c.974T>G (p.Val325Gly) rs1422095982
NM_001042492.3(NF1):c.976A>G (p.Lys326Glu) rs1597680956
NM_001042492.3(NF1):c.977A>G (p.Lys326Arg) rs2066507912
NM_001042492.3(NF1):c.978_980del (p.Leu327del) rs2066507983
NM_001042492.3(NF1):c.97A>G (p.Lys33Glu) rs1060500324
NM_001042492.3(NF1):c.980T>A (p.Leu327Gln)
NM_001042492.3(NF1):c.980T>C (p.Leu327Pro) rs201624827
NM_001042492.3(NF1):c.983G>A (p.Cys328Tyr) rs2143873368
NM_001042492.3(NF1):c.984T>G (p.Cys328Trp)
NM_001042492.3(NF1):c.986A>G (p.Lys329Arg) rs1555610894
NM_001042492.3(NF1):c.987A>G (p.Lys329=) rs2066508210
NM_001042492.3(NF1):c.988G>C (p.Ala330Pro) rs199474767
NM_001042492.3(NF1):c.989C>A (p.Ala330Glu) rs1555610898
NM_001042492.3(NF1):c.98A>G (p.Lys33Arg) rs1555604887
NM_001042492.3(NF1):c.992G>A (p.Ser331Asn) rs1555610899
NM_001042492.3(NF1):c.992G>C (p.Ser331Thr) rs1555610899
NM_001042492.3(NF1):c.996T>G (p.Thr332=)
NM_001042492.3(NF1):c.997T>C (p.Tyr333His) rs2066508508
NM_001042492.3(NF1):c.99A>G (p.Lys33=) rs786203280

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