ClinVar Miner

Variants with conflicting interpretations studied for Neurofibromatosis, type 1

Coded as:
Minimum review status of the submission for Neurofibromatosis, type 1: Collection method of the submission for Neurofibromatosis, type 1:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
10834 1844 0 462 540 0 148 1113

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
Neurofibromatosis, type 1 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 392 94 1 0
likely pathogenic 392 0 77 4 0
uncertain significance 94 77 0 371 178
likely benign 1 4 371 0 70
benign 0 0 178 70 0

Condition to condition summary #

Total conditions: 2
Download table as spreadsheet
Condition Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
Neurofibromatosis, type 1 10836 1842 0 462 540 0 148 1113
Neurofibromatosis, type 1; Tibial pseudarthrosis 0 18 0 6 1 0 1 8

All variants with conflicting interpretations #

Total variants: 1113
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.3496+19T>C rs9890283 0.00628
NM_001042492.3(NF1):c.3498C>T (p.Gly1166=) rs2066733 0.00392
NM_001042492.3(NF1):c.-22G>C rs556823296 0.00381
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu) rs112306990 0.00380
NM_001042492.3(NF1):c.3198-4T>C rs587782218 0.00365
NM_001042492.3(NF1):c.5235G>A (p.Lys1745=) rs17887014 0.00305
NM_001042492.3(NF1):c.340C>T (p.Leu114=) rs7207410 0.00283
NM_001042492.3(NF1):c.846G>A (p.Gln282=) rs138840528 0.00237
NM_001042492.3(NF1):c.4269A>G (p.Glu1423=) rs17886566 0.00220
NM_001042492.3(NF1):c.4836-21229G>C rs17884293 0.00215
NM_001042492.3(NF1):c.1994C>T (p.Ser665Phe) rs145891889 0.00197
NM_001042492.3(NF1):c.5035A>G (p.Ile1679Val) rs147327414 0.00195
NM_001042492.3(NF1):c.7584A>G (p.Gln2528=) rs55865524 0.00125
NM_001042492.3(NF1):c.1810T>C (p.Leu604=) rs142712751 0.00123
NM_001042492.3(NF1):c.4577+11C>G rs190614908 0.00123
NM_001042492.3(NF1):c.3867C>T (p.Phe1289=) rs138186428 0.00088
NM_001042492.3(NF1):c.3468C>T (p.Asn1156=) rs147955381 0.00083
NM_001042492.3(NF1):c.3270A>C (p.Gly1090=) rs150015024 0.00079
NM_001042492.3(NF1):c.7595C>T (p.Ala2532Val) rs148154172 0.00066
NM_001042492.3(NF1):c.7410T>C (p.Asn2470=) rs17881903 0.00052
NM_001042492.3(NF1):c.7461A>G (p.Thr2487=) rs149924365 0.00052
NM_001042492.3(NF1):c.369C>G (p.Thr123=) rs146691765 0.00037
NM_001042492.3(NF1):c.731-6A>C rs369366499 0.00037
NM_001042492.3(NF1):c.4851A>G (p.Gln1617=) rs150309802 0.00032
NM_001042492.3(NF1):c.1137C>T (p.Cys379=) rs139648455 0.00031
NM_001042492.3(NF1):c.6922-16A>G rs202158964 0.00030
NM_001042492.3(NF1):c.7322-16A>G rs369168102 0.00029
NM_001042492.3(NF1):c.8041A>G (p.Ile2681Val) rs146315101 0.00029
NM_001042492.3(NF1):c.8499T>C (p.Asn2833=) rs142636150 0.00027
NM_001042492.3(NF1):c.7554C>G (p.Ala2518=) rs141897690 0.00023
NM_001042492.3(NF1):c.4749A>G (p.Glu1583=) rs144091165 0.00018
NM_001042492.3(NF1):c.1032A>G (p.Leu344=) rs199832006 0.00017
NM_001042492.3(NF1):c.6172A>G (p.Ile2058Val) rs201712827 0.00017
NM_001042492.3(NF1):c.3672G>A (p.Ala1224=) rs151293900 0.00016
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.7368A>G (p.Lys2456=) rs201287021 0.00014
NM_001042492.3(NF1):c.2032C>G (p.Pro678Ala) rs758691069 0.00013
NM_001042492.3(NF1):c.7026G>A (p.Leu2342=) rs371581213 0.00013
NM_001042492.3(NF1):c.5049C>T (p.Asn1683=) rs140994965 0.00012
NM_001042492.3(NF1):c.1599C>G (p.Val533=) rs369458366 0.00011
NM_001042492.3(NF1):c.2178G>C (p.Val726=) rs369590240 0.00011
NM_001042492.3(NF1):c.7354C>T (p.Arg2452Cys) rs377662483 0.00011
NM_001042492.3(NF1):c.960T>A (p.Ala320=) rs376447070 0.00011
NM_001042492.3(NF1):c.2541T>C (p.Leu847=) rs147433258 0.00009
NM_001042492.3(NF1):c.4724+11A>G rs368649260 0.00009
NM_001042492.3(NF1):c.5513C>G (p.Ser1838Cys) rs368654378 0.00009
NM_001042492.3(NF1):c.5757G>A (p.Glu1919=) rs141077224 0.00008
NM_001042492.3(NF1):c.6171A>T (p.Ile2057=) rs140733963 0.00008
NM_001042492.3(NF1):c.1392+6A>T rs200798969 0.00007
NM_001042492.3(NF1):c.4836-3T>C rs372460369 0.00007
NM_001042492.3(NF1):c.4943C>T (p.Thr1648Ile) rs376655102 0.00007
NM_001042492.3(NF1):c.3217A>G (p.Met1073Val) rs199474740 0.00006
NM_001042492.3(NF1):c.6033A>G (p.Leu2011=) rs147995863 0.00006
NM_001042492.3(NF1):c.7006G>A (p.Ala2336Thr) rs587781428 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.3213A>G (p.Ala1071=) rs786202077 0.00005
NM_001042492.3(NF1):c.4207G>A (p.Gly1403Ser) rs138227618 0.00005
NM_001042492.3(NF1):c.7870-8C>A rs372441422 0.00005
NM_001042492.3(NF1):c.8238T>G (p.Ile2746Met) rs779789452 0.00005
NM_001042492.3(NF1):c.231A>T (p.Lys77Asn) rs373563053 0.00004
NM_001042492.3(NF1):c.3358G>C (p.Val1120Leu) rs200594167 0.00004
NM_001042492.3(NF1):c.3883A>G (p.Thr1295Ala) rs143836226 0.00004
NM_001042492.3(NF1):c.4445T>C (p.Ile1482Thr) rs746994734 0.00004
NM_001042492.3(NF1):c.5160G>T (p.Glu1720Asp) rs773378630 0.00004
NM_001042492.3(NF1):c.5255A>G (p.Lys1752Arg) rs864622373 0.00004
NM_001042492.3(NF1):c.5812+8A>G rs372075322 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.*4T>C rs201044568 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.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.2999G>A (p.Arg1000His) rs753082620 0.00003
NM_001042492.3(NF1):c.3145G>A (p.Val1049Ile) rs1060500343 0.00003
NM_001042492.3(NF1):c.3604G>T (p.Ala1202Ser) rs146641724 0.00003
NM_001042492.3(NF1):c.3947A>G (p.His1316Arg) rs751023085 0.00003
NM_001042492.3(NF1):c.3975-12A>G rs750100751 0.00003
NM_001042492.3(NF1):c.4835+5G>C rs786201306 0.00003
NM_001042492.3(NF1):c.5793T>C (p.Ile1931=) rs779114598 0.00003
NM_001042492.3(NF1):c.6082G>A (p.Ala2028Thr) rs767869530 0.00003
NM_001042492.3(NF1):c.6781C>T (p.His2261Tyr) rs750869272 0.00003
NM_001042492.3(NF1):c.696A>G (p.Thr232=) rs368691517 0.00003
NM_001042492.3(NF1):c.7003A>G (p.Thr2335Ala) rs370209920 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.1223A>G (p.Tyr408Cys) rs876660344 0.00002
NM_001042492.3(NF1):c.145T>A (p.Tyr49Asn) rs764367878 0.00002
NM_001042492.3(NF1):c.1472A>G (p.Tyr491Cys) rs199474757 0.00002
NM_001042492.3(NF1):c.1620G>T (p.Glu540Asp) rs766748586 0.00002
NM_001042492.3(NF1):c.1901T>C (p.Ile634Thr) rs527563505 0.00002
NM_001042492.3(NF1):c.1939C>T (p.His647Tyr) rs776251084 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.2282C>T (p.Ala761Val) rs746850653 0.00002
NM_001042492.3(NF1):c.2294G>A (p.Arg765His) rs199474777 0.00002
NM_001042492.3(NF1):c.2617C>T (p.Arg873Cys) rs199474739 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.4009C>T (p.Arg1337Trp) rs146306756 0.00002
NM_001042492.3(NF1):c.4185G>T (p.Gln1395His) rs775206746 0.00002
NM_001042492.3(NF1):c.4219A>G (p.Ser1407Gly) rs587781755 0.00002
NM_001042492.3(NF1):c.4262C>T (p.Pro1421Leu) rs753997885 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.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.5423C>T (p.Thr1808Met) rs760649828 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.7087A>G (p.Ile2363Val) rs137966859 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.1004A>G (p.Asn335Ser) rs758212945 0.00001
NM_001042492.3(NF1):c.1062+6A>G rs1060500291 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.1213A>G (p.Thr405Ala) rs587782233 0.00001
NM_001042492.3(NF1):c.1241T>G (p.Leu414Arg) rs1334926587 0.00001
NM_001042492.3(NF1):c.1247G>A (p.Arg416Gln) rs1343309278 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.1370A>T (p.His457Leu) rs786202763 0.00001
NM_001042492.3(NF1):c.1392G>A (p.Pro464=) rs201604273 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.1549G>A (p.Glu517Lys) rs587778548 0.00001
NM_001042492.3(NF1):c.1553C>T (p.Thr518Ile) rs587782696 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.178A>G (p.Thr60Ala) rs546729596 0.00001
NM_001042492.3(NF1):c.1801C>T (p.Arg601Trp) rs587782592 0.00001
NM_001042492.3(NF1):c.1846-8T>A rs886052799 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.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.1960C>T (p.Pro654Ser) rs765281937 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.1999A>G (p.Met667Val) rs749833271 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.2097C>T (p.Asp699=) rs547905840 0.00001
NM_001042492.3(NF1):c.212T>C (p.Phe71Ser) rs752396270 0.00001
NM_001042492.3(NF1):c.2156T>C (p.Ile719Thr) rs754025938 0.00001
NM_001042492.3(NF1):c.2158C>T (p.Arg720Trp) rs759679443 0.00001
NM_001042492.3(NF1):c.2159G>A (p.Arg720Gln) rs1350468182 0.00001
NM_001042492.3(NF1):c.2244G>A (p.Met748Ile) rs786202478 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.2342A>T (p.His781Leu) rs199474763 0.00001
NM_001042492.3(NF1):c.2350T>C (p.Trp784Arg) rs199474730 0.00001
NM_001042492.3(NF1):c.2378A>C (p.Asn793Thr) rs772543826 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.2476A>C (p.Ile826Leu) rs767069721 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.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.2623G>A (p.Gly875Ser) rs754734571 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.2741G>A (p.Arg914Gln) rs776447057 0.00001
NM_001042492.3(NF1):c.2749G>A (p.Val917Ile) rs752455591 0.00001
NM_001042492.3(NF1):c.278G>A (p.Cys93Tyr) rs199474728 0.00001
NM_001042492.3(NF1):c.2794A>G (p.Met932Val) rs886052800 0.00001
NM_001042492.3(NF1):c.2803A>C (p.Asn935His) rs786201823 0.00001
NM_001042492.3(NF1):c.2902A>G (p.Met968Val) rs587781499 0.00001
NM_001042492.3(NF1):c.2998C>T (p.Arg1000Cys) rs367684252 0.00001
NM_001042492.3(NF1):c.3013A>G (p.Met1005Val) rs1555614502 0.00001
NM_001042492.3(NF1):c.3039G>A (p.Thr1013=) rs876660168 0.00001
NM_001042492.3(NF1):c.3062T>G (p.Val1021Gly) rs1355411201 0.00001
NM_001042492.3(NF1):c.3103A>G (p.Met1035Val) rs771694969 0.00001
NM_001042492.3(NF1):c.323T>C (p.Met108Thr) rs780233935 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.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.3527G>T (p.Arg1176Ile) rs1227027709 0.00001
NM_001042492.3(NF1):c.354C>T (p.Cys118=) rs768777585 0.00001
NM_001042492.3(NF1):c.3590C>G (p.Ala1197Gly) rs370820478 0.00001
NM_001042492.3(NF1):c.3610C>T (p.Arg1204Trp) rs199474732 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.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.3779T>C (p.Met1260Thr) rs1555615463 0.00001
NM_001042492.3(NF1):c.3811A>G (p.Met1271Val) rs746583007 0.00001
NM_001042492.3(NF1):c.3826C>G (p.Arg1276Gly) rs199474742 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.3970A>G (p.Thr1324Ala) rs189522993 0.00001
NM_001042492.3(NF1):c.3974+9T>A rs368586596 0.00001
NM_001042492.3(NF1):c.3976T>A (p.Leu1326Ile) rs765957571 0.00001
NM_001042492.3(NF1):c.3989A>C (p.Glu1330Ala) rs1256727206 0.00001
NM_001042492.3(NF1):c.4000G>A (p.Glu1334Lys) rs878853892 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.4085G>A (p.Arg1362Gln) rs540108477 0.00001
NM_001042492.3(NF1):c.4098C>G (p.His1366Gln) rs1555617377 0.00001
NM_001042492.3(NF1):c.4110+4T>C rs587781700 0.00001
NM_001042492.3(NF1):c.4187G>A (p.Arg1396His) rs368685980 0.00001
NM_001042492.3(NF1):c.4201A>T (p.Ser1401Cys) rs1060500310 0.00001
NM_001042492.3(NF1):c.4306G>A (p.Glu1436Lys) rs876660428 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.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.4421C>T (p.Ala1474Val) rs587781553 0.00001
NM_001042492.3(NF1):c.4495A>G (p.Ile1499Val) rs764654925 0.00001
NM_001042492.3(NF1):c.4503C>T (p.Asp1501=) rs577394398 0.00001
NM_001042492.3(NF1):c.4504G>A (p.Gly1502Ser) rs876659607 0.00001
NM_001042492.3(NF1):c.4507A>C (p.Asn1503His) rs1555618837 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.452A>G (p.Asn151Ser) rs1567817981 0.00001
NM_001042492.3(NF1):c.4577+3A>G rs1060500246 0.00001
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter) rs760703505 0.00001
NM_001042492.3(NF1):c.4601G>A (p.Arg1534Gln) rs867955218 0.00001
NM_001042492.3(NF1):c.4682G>A (p.Ser1561Asn) rs751414513 0.00001
NM_001042492.3(NF1):c.4724+3A>G rs781147524 0.00001
NM_001042492.3(NF1):c.4766C>T (p.Thr1589Met) rs185660700 0.00001
NM_001042492.3(NF1):c.4813A>G (p.Ile1605Val) rs199474766 0.00001
NM_001042492.3(NF1):c.4957C>T (p.Arg1653Cys) rs876659922 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.5125A>G (p.Ile1709Val) rs774720054 0.00001
NM_001042492.3(NF1):c.5167C>G (p.Gln1723Glu) rs766727694 0.00001
NM_001042492.3(NF1):c.5270T>C (p.Val1757Ala) rs1021835871 0.00001
NM_001042492.3(NF1):c.5289A>G (p.Gln1763=) rs199703296 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.5299G>A (p.Ala1767Thr) rs529905904 0.00001
NM_001042492.3(NF1):c.529A>G (p.Ile177Val) rs766213678 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.5381T>C (p.Val1794Ala) rs142867979 0.00001
NM_001042492.3(NF1):c.5407A>G (p.Ile1803Val) rs559910904 0.00001
NM_001042492.3(NF1):c.5458A>C (p.Ile1820Leu) rs786202459 0.00001
NM_001042492.3(NF1):c.5470A>G (p.Ile1824Val) rs370858405 0.00001
NM_001042492.3(NF1):c.5482C>T (p.Arg1828Trp) rs1555533609 0.00001
NM_001042492.3(NF1):c.551A>G (p.Asn184Ser) rs876659849 0.00001
NM_001042492.3(NF1):c.5610-4C>G rs1419030713 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.5812+332A>G rs863224491 0.00001
NM_001042492.3(NF1):c.5813G>A (p.Ser1938Asn) rs906075234 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.5947A>G (p.Ile1983Val) rs876658484 0.00001
NM_001042492.3(NF1):c.5951A>G (p.Asn1984Ser) rs764291252 0.00001
NM_001042492.3(NF1):c.6148G>T (p.Val2050Phe) rs1300330804 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.6368A>T (p.His2123Leu) rs112546213 0.00001
NM_001042492.3(NF1):c.6442G>A (p.Val2148Ile) rs770993581 0.00001
NM_001042492.3(NF1):c.6555G>A (p.Arg2185=) rs786203189 0.00001
NM_001042492.3(NF1):c.6586A>G (p.Thr2196Ala) rs372169109 0.00001
NM_001042492.3(NF1):c.6637A>G (p.Met2213Val) rs864622330 0.00001
NM_001042492.3(NF1):c.6665C>T (p.Thr2222Met) rs369803831 0.00001
NM_001042492.3(NF1):c.6671A>G (p.Lys2224Arg) rs749567006 0.00001
NM_001042492.3(NF1):c.6674G>A (p.Trp2225Ter) rs1193716348 0.00001
NM_001042492.3(NF1):c.6717A>G (p.Gln2239=) rs2069724967 0.00001
NM_001042492.3(NF1):c.6773G>A (p.Arg2258Gln) rs786202030 0.00001
NM_001042492.3(NF1):c.67A>G (p.Ile23Val) rs542824372 0.00001
NM_001042492.3(NF1):c.6806G>A (p.Arg2269His) rs562367786 0.00001
NM_001042492.3(NF1):c.6819+6T>C rs1407700643 0.00001
NM_001042492.3(NF1):c.6837A>C (p.Leu2279Phe) rs144287929 0.00001
NM_001042492.3(NF1):c.7009C>T (p.Leu2337Phe) rs367734104 0.00001
NM_001042492.3(NF1):c.7045C>T (p.Arg2349Cys) rs56013763 0.00001
NM_001042492.3(NF1):c.7055A>G (p.Asn2352Ser) rs763082717 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.7211C>T (p.Ala2404Val) rs771706364 0.00001
NM_001042492.3(NF1):c.7213A>G (p.Ile2405Val) rs565708398 0.00001
NM_001042492.3(NF1):c.7253C>T (p.Thr2418Ile) rs764022114 0.00001
NM_001042492.3(NF1):c.7298C>T (p.Thr2433Ile) rs755749772 0.00001
NM_001042492.3(NF1):c.7305C>T (p.Ser2435=) rs369754180 0.00001
NM_001042492.3(NF1):c.7326A>G (p.Leu2442=) rs753224880 0.00001
NM_001042492.3(NF1):c.7349G>A (p.Arg2450Gln) rs533110479 0.00001
NM_001042492.3(NF1):c.734G>A (p.Cys245Tyr) rs587781869 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.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.7456A>G (p.Arg2486Gly) rs752162999 0.00001
NM_001042492.3(NF1):c.7466A>G (p.Lys2489Arg) rs864622249 0.00001
NM_001042492.3(NF1):c.747A>G (p.Leu249=) rs761964963 0.00001
NM_001042492.3(NF1):c.7487C>G (p.Ser2496Cys) rs371773406 0.00001
NM_001042492.3(NF1):c.7490C>T (p.Pro2497Leu) rs1555536347 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.7533C>T (p.Val2511=) rs760733171 0.00001
NM_001042492.3(NF1):c.7534G>A (p.Gly2512Ser) rs766496842 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.7700C>T (p.Pro2567Leu) rs754511534 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.7810C>G (p.Leu2604Val) rs776602307 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.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.7943T>G (p.Val2648Gly) rs1487025591 0.00001
NM_001042492.3(NF1):c.8080T>C (p.Ser2694Pro) rs876658554 0.00001
NM_001042492.3(NF1):c.8150C>T (p.Pro2717Leu) rs778799019 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.8386A>C (p.Lys2796Gln) rs1383658117 0.00001
NM_001042492.3(NF1):c.83A>C (p.Gln28Pro) rs587782686 0.00001
NM_001042492.3(NF1):c.8446G>A (p.Gly2816Arg) rs778233452 0.00001
NM_001042492.3(NF1):c.845A>G (p.Gln282Arg) rs779034900 0.00001
NM_001042492.3(NF1):c.8495G>A (p.Arg2832His) rs587781523 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.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.98A>G (p.Lys33Arg) rs1555604887 0.00001
NM_001042492.3(NF1):c.-272G>A rs1911510393
NM_001042492.3(NF1):c.1013A>G (p.Asp338Gly) rs199474773
NM_001042492.3(NF1):c.1019_1020del (p.Ser340fs) rs1555610903
NM_001042492.3(NF1):c.1021G>A (p.Val341Ile) rs1555610907
NM_001042492.3(NF1):c.1038del (p.Gln347fs) rs2143874352
NM_001042492.3(NF1):c.1061A>G (p.Lys354Arg) rs1135402801
NM_001042492.3(NF1):c.1062+2dup rs2066510417
NM_001042492.3(NF1):c.1062+3A>G rs1057521098
NM_001042492.3(NF1):c.1062G>A (p.Lys354=) rs1131691118
NM_001042492.3(NF1):c.1062G>T (p.Lys354Asn) rs1131691118
NM_001042492.3(NF1):c.1063-1G>C rs1555610955
NM_001042492.3(NF1):c.1069C>T (p.Leu357Phe) rs1567835662
NM_001042492.3(NF1):c.1077del (p.Pro360fs) rs1555610972
NM_001042492.3(NF1):c.1104_1107del (p.Gln369fs) rs1555610984
NM_001042492.3(NF1):c.1139T>G (p.Leu380Arg) rs1555611004
NM_001042492.3(NF1):c.1183_1185+2del rs1555611039
NM_001042492.3(NF1):c.1185+1G>T rs864622161
NM_001042492.3(NF1):c.1185+2T>C rs1555611043
NM_001042492.3(NF1):c.1185+5G>C rs1597682182
NM_001042492.3(NF1):c.1185+7G>C rs1322791959
NM_001042492.3(NF1):c.1185G>A (p.Lys395=) rs1567835847
NM_001042492.3(NF1):c.1186-1G>C rs876660782
NM_001042492.3(NF1):c.1186-1G>T rs876660782
NM_001042492.3(NF1):c.1186-2A>G rs1373365576
NM_001042492.3(NF1):c.1186-6C>T rs200684215
NM_001042492.3(NF1):c.122A>C (p.Glu41Ala) rs786203038
NM_001042492.3(NF1):c.1235A>G (p.Asn412Ser) rs1567836090
NM_001042492.3(NF1):c.1252A>G (p.Ile418Val) rs1597682898
NM_001042492.3(NF1):c.1260+1604A>G rs1131691067
NM_001042492.3(NF1):c.1260+1G>T rs267606603
NM_001042492.3(NF1):c.1260+2T>C rs1555611110
NM_001042492.3(NF1):c.1260+2T>G rs1555611110
NM_001042492.3(NF1):c.1260+5G>C rs1060500253
NM_001042492.3(NF1):c.1260+6T>C rs1555611111
NM_001042492.3(NF1):c.1261-19G>A rs1597688663
NM_001042492.3(NF1):c.1261T>G (p.Ser421Ala) rs878853864
NM_001042492.3(NF1):c.128T>C (p.Leu43Pro) rs1555604899
NM_001042492.3(NF1):c.1307C>T (p.Ser436Leu) rs755190083
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.1316T>C (p.Leu439Pro) rs2143914353
NM_001042492.3(NF1):c.1328T>C (p.Phe443Ser) rs1555611581
NM_001042492.3(NF1):c.1392+1G>A rs267604791
NM_001042492.3(NF1):c.1392+5_1392+6delinsTT rs587782851
NM_001042492.3(NF1):c.1393-1G>C rs1131691131
NM_001042492.3(NF1):c.1393-2A>G rs1555612266
NM_001042492.3(NF1):c.1393-2A>T rs1555612266
NM_001042492.3(NF1):c.1393-592A>G rs2066773116
NM_001042492.3(NF1):c.1405A>G (p.Lys469Glu) rs1555612271
NM_001042492.3(NF1):c.1426A>G (p.Lys476Glu) rs2066785949
NM_001042492.3(NF1):c.1465T>G (p.Tyr489Asp) rs2066786672
NM_001042492.3(NF1):c.1490del (p.Val497fs) rs1555612286
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.1527+1159C>T rs878853868
NM_001042492.3(NF1):c.1527+1G>C rs1060500331
NM_001042492.3(NF1):c.1527+2T>C rs1064796700
NM_001042492.3(NF1):c.1527+2dup rs1597698533
NM_001042492.3(NF1):c.1527+4_1527+7del rs1555612294
NM_001042492.3(NF1):c.1527+5G>A rs1060500352
NM_001042492.3(NF1):c.1527+5G>C rs1060500352
NM_001042492.3(NF1):c.1528-3C>T rs1060500294
NM_001042492.3(NF1):c.1585C>T (p.Leu529Phe) rs1135402816
NM_001042492.3(NF1):c.1595T>C (p.Leu532Pro) rs199474737
NM_001042492.3(NF1):c.1595T>G (p.Leu532Arg) rs199474737
NM_001042492.3(NF1):c.1598T>A (p.Val533Asp) rs1555612857
NM_001042492.3(NF1):c.1598T>G (p.Val533Gly) rs1555612857
NM_001042492.3(NF1):c.15del (p.Arg5fs) rs1057516197
NM_001042492.3(NF1):c.1607C>G (p.Ser536Ter) rs1555612859
NM_001042492.3(NF1):c.1636A>G (p.Met546Val) rs2066877456
NM_001042492.3(NF1):c.1641+1G>A rs1555612866
NM_001042492.3(NF1):c.1641+2T>C rs1555612867
NM_001042492.3(NF1):c.1642-449A>G rs863224655
NM_001042492.3(NF1):c.1642G>C (p.Ala548Pro) rs2066927450
NM_001042492.3(NF1):c.1646T>C (p.Leu549Pro) rs199474758
NM_001042492.3(NF1):c.1652TTC[1] (p.Leu552del) rs2144003808
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.1658A>C (p.His553Pro) rs1064794274
NM_001042492.3(NF1):c.1658A>G (p.His553Arg) rs1064794274
NM_001042492.3(NF1):c.1660C>T (p.Gln554Ter) rs953440640
NM_001042492.3(NF1):c.1661A>G (p.Gln554Arg) rs863224656
NM_001042492.3(NF1):c.1670G>A (p.Ser557Asn) rs1567845046
NM_001042492.3(NF1):c.1720A>C (p.Ser574Arg) rs2066929440
NM_001042492.3(NF1):c.1721G>A (p.Ser574Asn) rs1555613206
NM_001042492.3(NF1):c.1722-26T>C rs1597708542
NM_001042492.3(NF1):c.1722-2A>C rs763983337
NM_001042492.3(NF1):c.1722-3C>A rs770211384
NM_001042492.3(NF1):c.1733T>C (p.Leu578Pro) rs199474774
NM_001042492.3(NF1):c.1733T>G (p.Leu578Arg) rs199474774
NM_001042492.3(NF1):c.1738del (p.Tyr580fs) rs786204255
NM_001042492.3(NF1):c.1748A>G (p.Lys583Arg) rs199474760
NM_001042492.3(NF1):c.174C>T (p.Leu58=) rs2065657421
NM_001042492.3(NF1):c.179C>G (p.Thr60Ser) rs1007047958
NM_001042492.3(NF1):c.17C>T (p.Pro6Leu) rs864622210
NM_001042492.3(NF1):c.1802G>A (p.Arg601Gln) rs1060500288
NM_001042492.3(NF1):c.1818C>T (p.Cys606=) rs1567845937
NM_001042492.3(NF1):c.1833del (p.Asn614fs) rs2508126744
NM_001042492.3(NF1):c.1845+1_1845+5del rs1135402822
NM_001042492.3(NF1):c.1845+2T>C rs1555613430
NM_001042492.3(NF1):c.1845G>A (p.Lys615=) rs1131691080
NM_001042492.3(NF1):c.1846C>T (p.Gln616Ter) rs1555613543
NM_001042492.3(NF1):c.1855A>G (p.Arg619Gly) rs587781821
NM_001042492.3(NF1):c.1866T>C (p.Cys622=) rs753245823
NM_001042492.3(NF1):c.1868A>G (p.His623Arg) rs1555613555
NM_001042492.3(NF1):c.1884del (p.Phe627_Tyr628insTer) rs2066990429
NM_001042492.3(NF1):c.1885G>C (p.Gly629Arg) rs199474738
NM_001042492.3(NF1):c.1888G>A (p.Val630Ile) rs751795238
NM_001042492.3(NF1):c.188del (p.Lys63fs) rs1555604939
NM_001042492.3(NF1):c.1910G>C (p.Ser637Thr) rs749745247
NM_001042492.3(NF1):c.1950dup (p.Leu651fs)
NM_001042492.3(NF1):c.1954C>T (p.Arg652Cys) rs786202436
NM_001042492.3(NF1):c.1986del (p.Asn664fs) rs2066993468
NM_001042492.3(NF1):c.2002-4_2002-3del rs786203664
NM_001042492.3(NF1):c.2002-5C>G rs1165625614
NM_001042492.3(NF1):c.2015G>T (p.Gly672Val) rs371817372
NM_001042492.3(NF1):c.2028C>G (p.Thr676=) rs878853873
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.204+3_204+6del rs1567814632
NM_001042492.3(NF1):c.2042G>A (p.Arg681Gln) rs786201768
NM_001042492.3(NF1):c.2072T>C (p.Leu691Pro) rs1131691132
NM_001042492.3(NF1):c.2077A>G (p.Met693Val) rs1555613794
NM_001042492.3(NF1):c.2084T>C (p.Leu695Pro) rs199474761
NM_001042492.3(NF1):c.2087G>A (p.Trp696Ter) rs2151425754
NM_001042492.3(NF1):c.2098A>G (p.Thr700Ala) rs1555613801
NM_001042492.3(NF1):c.2116G>A (p.Ala706Thr) rs876658232
NM_001042492.3(NF1):c.2117C>T (p.Ala706Val) rs2151425819
NM_001042492.3(NF1):c.2125T>C (p.Cys709Arg) rs1131691095
NM_001042492.3(NF1):c.2131C>T (p.Arg711Cys) rs1400902839
NM_001042492.3(NF1):c.2135A>G (p.His712Arg) rs199474727
NM_001042492.3(NF1):c.2163T>A (p.Cys721Ter) rs1555613816
NM_001042492.3(NF1):c.2189A>C (p.Asn730Thr) rs778033578
NM_001042492.3(NF1):c.2233A>G (p.Ser745Gly) rs786201865
NM_001042492.3(NF1):c.2239A>G (p.Met747Val) rs1471232737
NM_001042492.3(NF1):c.2250A>G (p.Thr750=) rs876659061
NM_001042492.3(NF1):c.2251+1G>C rs1555613843
NM_001042492.3(NF1):c.2251+1G>T rs1555613843
NM_001042492.3(NF1):c.2251+5A>T rs786201934
NM_001042492.3(NF1):c.2251G>A (p.Gly751Arg) rs1567847681
NM_001042492.3(NF1):c.2251G>C (p.Gly751Arg) rs1567847681
NM_001042492.3(NF1):c.2252-1G>C rs587781577
NM_001042492.3(NF1):c.2252-1G>T rs587781577
NM_001042492.3(NF1):c.2252-2A>G rs1131691105
NM_001042492.3(NF1):c.2252-3T>G rs1057518842
NM_001042492.3(NF1):c.2288T>C (p.Leu763Pro) rs199474762
NM_001042492.3(NF1):c.2288T>G (p.Leu763Arg) rs199474762
NM_001042492.3(NF1):c.2325+3A>T rs1057517848
NM_001042492.3(NF1):c.2325+4T>C rs1555613934
NM_001042492.3(NF1):c.2325G>A (p.Glu775=) rs1555613932
NM_001042492.3(NF1):c.2326-1G>C rs1567848100
NM_001042492.3(NF1):c.2326-1G>T rs1567848100
NM_001042492.3(NF1):c.2326-2A>G rs1555613975
NM_001042492.3(NF1):c.2329T>A (p.Trp777Arg) rs876658853
NM_001042492.3(NF1):c.2329T>C (p.Trp777Arg) rs876658853
NM_001042492.3(NF1):c.2329T>G (p.Trp777Gly) rs876658853
NM_001042492.3(NF1):c.2330G>C (p.Trp777Ser) rs199474745
NM_001042492.3(NF1):c.2331G>A (p.Trp777Ter) rs1555613983
NM_001042492.3(NF1):c.2339C>A (p.Thr780Lys) rs199474746
NM_001042492.3(NF1):c.2339C>G (p.Thr780Arg) rs199474746
NM_001042492.3(NF1):c.2342A>C (p.His781Pro) rs199474763
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.2352G>C (p.Trp784Cys) rs199474778
NM_001042492.3(NF1):c.2353G>A (p.Glu785Lys) rs1597713756
NM_001042492.3(NF1):c.2378del (p.Asn793fs)
NM_001042492.3(NF1):c.2390C>T (p.Ala797Val) rs1181350360
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.2409+15T>C rs2067039946
NM_001042492.3(NF1):c.2409+1G>C rs1555614022
NM_001042492.3(NF1):c.2409+2T>A rs876660826
NM_001042492.3(NF1):c.2410-12T>G rs876657932
NM_001042492.3(NF1):c.2410-13A>G rs1567848711
NM_001042492.3(NF1):c.2410-15A>G rs1597715031
NM_001042492.3(NF1):c.2410-16A>G rs1567848704
NM_001042492.3(NF1):c.2410-18C>G rs533210843
NM_001042492.3(NF1):c.2410-3T>G rs1450743199
NM_001042492.3(NF1):c.2410G>C (p.Ala804Pro) rs761109477
NM_001042492.3(NF1):c.2440A>G (p.Lys814Glu) rs1555614184
NM_001042492.3(NF1):c.245C>T (p.Ser82Phe) rs199474729
NM_001042492.3(NF1):c.248A>C (p.Gln83Pro) rs1060500360
NM_001042492.3(NF1):c.2509T>C (p.Trp837Arg) rs587781747
NM_001042492.3(NF1):c.2521A>C (p.Thr841Pro) rs2067066952
NM_001042492.3(NF1):c.2530C>T (p.Leu844Phe) rs199474785
NM_001042492.3(NF1):c.2531T>C (p.Leu844Pro) rs137854566
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_001042492.3(NF1):c.2542G>A (p.Gly848Arg) rs1060500368
NM_001042492.3(NF1):c.2542G>C (p.Gly848Arg) rs1060500368
NM_001042492.3(NF1):c.2560C>T (p.Gln854Ter) rs1555614261
NM_001042492.3(NF1):c.2618G>C (p.Arg873Pro) rs949092641
NM_001042492.3(NF1):c.2623G>T (p.Gly875Cys) rs754734571
NM_001042492.3(NF1):c.2641A>G (p.Met881Val) rs1060500263
NM_001042492.3(NF1):c.2665dup (p.Thr889fs) rs886041348
NM_001042492.3(NF1):c.2674A>T (p.Ser892Cys) rs746324091
NM_001042492.3(NF1):c.2681T>C (p.Phe894Ser) rs1282493551
NM_001042492.3(NF1):c.2683A>G (p.Met895Val) rs876659129
NM_001042492.3(NF1):c.2693T>C (p.Leu898Pro) rs199474786
NM_001042492.3(NF1):c.269T>G (p.Leu90Arg) rs1555605393
NM_001042492.3(NF1):c.2710T>A (p.Cys904Ser) rs2151429494
NM_001042492.3(NF1):c.2761G>A (p.Val921Met) rs567023433
NM_001042492.3(NF1):c.2764G>A (p.Gly922Ser) rs1135402831
NM_001042492.3(NF1):c.2774del (p.Glu924_Leu925insTer) rs2508188482
NM_001042492.3(NF1):c.277T>C (p.Cys93Arg) rs1555605398
NM_001042492.3(NF1):c.2798T>C (p.Leu933Pro) rs1555614342
NM_001042492.3(NF1):c.279T>G (p.Cys93Trp) rs1597629882
NM_001042492.3(NF1):c.2823del (p.Ser942fs) rs2067074423
NM_001042492.3(NF1):c.2825G>C (p.Ser942Thr) rs1555614350
NM_001042492.3(NF1):c.2835del (p.Phe945fs) rs1567849208
NM_001042492.3(NF1):c.2846dup (p.Gln950fs) rs1555614358
NM_001042492.3(NF1):c.2851-21_2851-17del rs758020046
NM_001042492.3(NF1):c.2851-6_2851-3del rs1597716256
NM_001042492.3(NF1):c.2851G>T (p.Val951Phe) rs1597716277
NM_001042492.3(NF1):c.2870A>T (p.Asn957Ile) rs1135402834
NM_001042492.3(NF1):c.2877dup (p.Phe960fs)
NM_001042492.3(NF1):c.288+4A>G rs781459468
NM_001042492.3(NF1):c.288+5G>A rs1555605409
NM_001042492.3(NF1):c.2894T>A (p.Ile965Lys) rs1555614438
NM_001042492.3(NF1):c.2915T>C (p.Leu972Pro) rs1597716348
NM_001042492.3(NF1):c.2947_2948del (p.Leu983fs) rs1597716378
NM_001042492.3(NF1):c.2970_2972del (p.Met992del) rs267606606
NM_001042492.3(NF1):c.2989A>G (p.Arg997Gly) rs2067085335
NM_001042492.3(NF1):c.2990+1G>A rs1135402836
NM_001042492.3(NF1):c.2990+5G>A rs1555614464
NM_001042492.3(NF1):c.2991-2A>C rs1555614495
NM_001042492.3(NF1):c.2991-2A>G rs1555614495
NM_001042492.3(NF1):c.2998_2999del (p.Arg1000fs) rs1597716817
NM_001042492.3(NF1):c.2T>A (p.Met1Lys) rs886041346
NM_001042492.3(NF1):c.3044T>C (p.Leu1015Pro) rs1131691112
NM_001042492.3(NF1):c.3047G>A (p.Cys1016Tyr) rs2067091492
NM_001042492.3(NF1):c.3104T>A (p.Met1035Lys) rs137854553
NM_001042492.3(NF1):c.3104T>C (p.Met1035Thr) rs137854553
NM_001042492.3(NF1):c.3104T>G (p.Met1035Arg) rs137854553
NM_001042492.3(NF1):c.3113+1G>T rs267606599
NM_001042492.3(NF1):c.3113+2T>C rs876658997
NM_001042492.3(NF1):c.3113+2T>G rs876658997
NM_001042492.3(NF1):c.3113+5G>A rs1555614549
NM_001042492.3(NF1):c.3113+5G>C rs1555614549
NM_001042492.3(NF1):c.3113+5G>T rs1555614549
NM_001042492.3(NF1):c.3114-2A>G rs1428885377
NM_001042492.3(NF1):c.3114-8T>G rs1597717471
NM_001042492.3(NF1):c.3118A>G (p.Lys1040Glu) rs1555614619
NM_001042492.3(NF1):c.3142T>C (p.Trp1048Arg) rs1555614634
NM_001042492.3(NF1):c.3171A>G (p.Ala1057=) rs2067102269
NM_001042492.3(NF1):c.3197+1G>A rs1555614653
NM_001042492.3(NF1):c.3197+9dup rs755212937
NM_001042492.3(NF1):c.3198-1G>C rs1223905930
NM_001042492.3(NF1):c.3198-314G>A rs2067116490
NM_001042492.3(NF1):c.3198-5T>G rs587782639
NM_001042492.3(NF1):c.3211G>C (p.Ala1071Pro) rs2067122183
NM_001042492.3(NF1):c.3239T>C (p.Leu1080Pro) rs1555614833
NM_001042492.3(NF1):c.3250C>A (p.Pro1084Thr) rs1555614848
NM_001042492.3(NF1):c.3250C>T (p.Pro1084Ser) rs1555614848
NM_001042492.3(NF1):c.3251C>G (p.Pro1084Arg) rs1164081667
NM_001042492.3(NF1):c.3251C>T (p.Pro1084Leu) rs1164081667
NM_001042492.3(NF1):c.3277G>A (p.Val1093Met) rs1555614858
NM_001042492.3(NF1):c.3301_3302del (p.Gln1101fs) rs1555614866
NM_001042492.3(NF1):c.3313A>T (p.Lys1105Ter) rs1555614867
NM_001042492.3(NF1):c.3315-3C>G rs752318318
NM_001042492.3(NF1):c.3315-8T>G rs764783865
NM_001042492.3(NF1):c.3317dup (p.Tyr1106Ter)
NM_001042492.3(NF1):c.3318C>A (p.Tyr1106Ter) rs876659289
NM_001042492.3(NF1):c.3329_3332del (p.Leu1109_Phe1110insTer) rs2067134264
NM_001042492.3(NF1):c.332_335del (p.Lys111fs) rs1135402787
NM_001042492.3(NF1):c.3383G>A (p.Gly1128Asp) rs1060500325
NM_001042492.3(NF1):c.3427C>T (p.His1143Tyr) rs1555614963
NM_001042492.3(NF1):c.3428A>G (p.His1143Arg) rs1555614965
NM_001042492.3(NF1):c.3437T>A (p.Val1146Asp) rs2067137147
NM_001042492.3(NF1):c.3445A>G (p.Met1149Val) rs1187097568
NM_001042492.3(NF1):c.3447G>A (p.Met1149Ile) rs1064794277
NM_001042492.3(NF1):c.3447G>C (p.Met1149Ile) rs1064794277
NM_001042492.3(NF1):c.3447G>T (p.Met1149Ile) rs1064794277
NM_001042492.3(NF1):c.3448T>C (p.Ser1150Pro) rs2067137547
NM_001042492.3(NF1):c.3460A>G (p.Asn1154Asp) rs2067137878
NM_001042492.3(NF1):c.3461A>T (p.Asn1154Ile) rs371544233
NM_001042492.3(NF1):c.3467A>G (p.Asn1156Ser) rs199474764
NM_001042492.3(NF1):c.3479G>A (p.Gly1160Asp) rs2067138342
NM_001042492.3(NF1):c.3496+5G>C rs786202564
NM_001042492.3(NF1):c.3497-1G>A rs1555615004
NM_001042492.3(NF1):c.3502G>C (p.Gly1168Arg) rs878853883
NM_001042492.3(NF1):c.3544G>C (p.Val1182Leu) rs1555615027
NM_001042492.3(NF1):c.3545T>C (p.Val1182Ala) rs2067142076
NM_001042492.3(NF1):c.3545T>G (p.Val1182Gly) rs2067142076
NM_001042492.3(NF1):c.3569G>A (p.Gly1190Asp) rs1555615032
NM_001042492.3(NF1):c.356A>G (p.His119Arg) rs150080742
NM_001042492.3(NF1):c.3572C>G (p.Thr1191Arg) rs2151435462
NM_001042492.3(NF1):c.3578T>A (p.Phe1193Tyr) rs199474780
NM_001042492.3(NF1):c.3578T>C (p.Phe1193Ser) rs199474780
NM_001042492.3(NF1):c.3586C>G (p.Leu1196Val) rs1555615039
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.3596C>G (p.Thr1199Arg) rs1555615047
NM_001042492.3(NF1):c.3596C>T (p.Thr1199Ile) rs1555615047
NM_001042492.3(NF1):c.3610C>G (p.Arg1204Gly) rs199474732
NM_001042492.3(NF1):c.3623T>G (p.Leu1208Trp) rs1060500374
NM_001042492.3(NF1):c.3638del (p.Thr1213fs)
NM_001042492.3(NF1):c.3656G>A (p.Gly1219Glu) rs878853885
NM_001042492.3(NF1):c.3656_3658del (p.Gly1219del) rs1555615077
NM_001042492.3(NF1):c.3671C>T (p.Ala1224Val) rs1060500340
NM_001042492.3(NF1):c.3708+1G>A rs1420779915
NM_001042492.3(NF1):c.3736_3737del (p.Leu1246fs) rs2067186293
NM_001042492.3(NF1):c.373C>T (p.Arg125Cys) rs876659418
NM_001042492.3(NF1):c.3764A>G (p.Gln1255Arg) rs1555615453
NM_001042492.3(NF1):c.3778A>G (p.Met1260Val) rs1264981144
NM_001042492.3(NF1):c.3790G>A (p.Glu1264Lys) rs863224660
NM_001042492.3(NF1):c.3812T>C (p.Met1271Thr) rs876659801
NM_001042492.3(NF1):c.3826del (p.Arg1276fs) rs2067188667
NM_001042492.3(NF1):c.3827G>T (p.Arg1276Leu) rs137854556
NM_001042492.3(NF1):c.3831C>T (p.Gly1277=) rs1597722611
NM_001042492.3(NF1):c.3834C>G (p.Asn1278Lys) rs1135402850
NM_001042492.3(NF1):c.3841G>A (p.Ala1281Thr) rs2151438011
NM_001042492.3(NF1):c.3842C>G (p.Ala1281Gly) rs1060500341
NM_001042492.3(NF1):c.3864T>A (p.Cys1288Ter) rs1555615495
NM_001042492.3(NF1):c.386A>T (p.Gln129Leu) rs1060500250
NM_001042492.3(NF1):c.3870+1G>A rs1131691075
NM_001042492.3(NF1):c.3871-13T>A rs1597722866
NM_001042492.3(NF1):c.3875A>G (p.Tyr1292Cys) rs1060500243
NM_001042492.3(NF1):c.387G>C (p.Gln129His) rs1390215440
NM_001042492.3(NF1):c.3892C>T (p.Gln1298Ter) rs2067193761
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.38T>C (p.Val13Ala) rs1911556061
NM_001042492.3(NF1):c.3916C>T (p.Arg1306Ter) rs376576925
NM_001042492.3(NF1):c.3974G>C (p.Arg1325Thr) rs863224447
NM_001042492.3(NF1):c.3G>T (p.Met1Ile) rs1598173737
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.4016T>G (p.Leu1339Arg) rs1567858306
NM_001042492.3(NF1):c.4022A>T (p.Gln1341Leu) rs1555617325
NM_001042492.3(NF1):c.4043A>G (p.His1348Arg) rs786201844
NM_001042492.3(NF1):c.4054A>T (p.Ser1352Cys) rs1337343400
NM_001042492.3(NF1):c.4058C>T (p.Ser1353Phe) rs1555617346
NM_001042492.3(NF1):c.4069T>C (p.Phe1357Leu) rs1207255352
NM_001042492.3(NF1):c.4072C>T (p.Pro1358Ser) rs1555617359
NM_001042492.3(NF1):c.4074_4075delinsAA (p.Pro1359Thr) rs1555617362
NM_001042492.3(NF1):c.4099T>C (p.Cys1367Arg) rs2151451647
NM_001042492.3(NF1):c.4110+3A>C rs774669878
NM_001042492.3(NF1):c.4110+945A>G rs2067468999
NM_001042492.3(NF1):c.412G>C (p.Ala138Pro) rs1597635936
NM_001042492.3(NF1):c.4173+278A>G
NM_001042492.3(NF1):c.4174-8_4174-6del rs751729752
NM_001042492.3(NF1):c.4183C>T (p.Gln1395Ter) rs1555618494
NM_001042492.3(NF1):c.4186C>T (p.Arg1396Cys) rs1555618495
NM_001042492.3(NF1):c.4208del (p.Gly1403fs) rs2067621019
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.4231C>G (p.Leu1411Val) rs199474789
NM_001042492.3(NF1):c.4231C>T (p.Leu1411Phe) rs199474789
NM_001042492.3(NF1):c.4232T>C (p.Leu1411Pro) rs2067621676
NM_001042492.3(NF1):c.4235G>C (p.Arg1412Thr) rs1555618516
NM_001042492.3(NF1):c.4236A>T (p.Arg1412Ser) rs137854554
NM_001042492.3(NF1):c.4243A>C (p.Asn1415His) rs1555618518
NM_001042492.3(NF1):c.4243A>T (p.Asn1415Tyr) rs1555618518
NM_001042492.3(NF1):c.4277T>C (p.Ile1426Thr) rs1555618549
NM_001042492.3(NF1):c.4285A>T (p.Lys1429Ter) rs758915600
NM_001042492.3(NF1):c.4316T>A (p.Leu1439Ter) rs1567862071
NM_001042492.3(NF1):c.4321T>G (p.Leu1441Val) rs786201458
NM_001042492.3(NF1):c.4328C>T (p.Ser1443Leu) rs1555618566
NM_001042492.3(NF1):c.4330A>C (p.Lys1444Gln) rs137854550
NM_001042492.3(NF1):c.4331A>T (p.Lys1444Met) rs199474781
NM_001042492.3(NF1):c.4332+1G>T rs1555618572
NM_001042492.3(NF1):c.4332+2T>C rs786204207
NM_001042492.3(NF1):c.4332G>A (p.Lys1444=) rs199474750
NM_001042492.3(NF1):c.4332G>C (p.Lys1444Asn) rs199474750
NM_001042492.3(NF1):c.4339C>T (p.Gln1447Ter) rs1135402857
NM_001042492.3(NF1):c.4340A>C (p.Gln1447Pro) rs786204157
NM_001042492.3(NF1):c.4340A>G (p.Gln1447Arg) rs786204157
NM_001042492.3(NF1):c.4341G>C (p.Gln1447His) rs876660206
NM_001042492.3(NF1):c.4352A>T (p.Asn1451Ile) rs199474754
NM_001042492.3(NF1):c.4357G>T (p.Val1453Phe) rs199474755
NM_001042492.3(NF1):c.4360C>G (p.Leu1454Val) rs1408832954
NM_001042492.3(NF1):c.4367del (p.Thr1456fs) rs2067637088
NM_001042492.3(NF1):c.4369_4371del (p.Lys1457del) rs1555618653
NM_001042492.3(NF1):c.4372GAA[1] (p.Glu1459del) rs267606607
NM_001042492.3(NF1):c.4378C>T (p.His1460Tyr) rs377295676
NM_001042492.3(NF1):c.4381A>T (p.Met1461Leu) rs1555618675
NM_001042492.3(NF1):c.4381_4382del (p.Met1461fs) rs1135402859
NM_001042492.3(NF1):c.4382T>A (p.Met1461Lys) rs754639587
NM_001042492.3(NF1):c.4412A>G (p.Asn1471Ser) rs876658250
NM_001042492.3(NF1):c.4430+1G>C rs773151680
NM_001042492.3(NF1):c.4431-9T>G rs1597746884
NM_001042492.3(NF1):c.4462A>G (p.Thr1488Ala) rs876660162
NM_001042492.3(NF1):c.4489del (p.Ser1497fs) rs2067664000
NM_001042492.3(NF1):c.4498A>G (p.Ser1500Gly) rs1135402862
NM_001042492.3(NF1):c.4520del (p.Leu1507fs) rs2151464729
NM_001042492.3(NF1):c.4530A>G (p.Leu1510=) rs876660089
NM_001042492.3(NF1):c.4532T>C (p.Leu1511Pro) rs1135402864
NM_001042492.3(NF1):c.4536G>C (p.Trp1512Cys) rs878853897
NM_001042492.3(NF1):c.4544A>G (p.Gln1515Arg) rs1135402865
NM_001042492.3(NF1):c.4556G>A (p.Gly1519Glu) rs1567863004
NM_001042492.3(NF1):c.4571_4572delinsAA (p.Ser1524Lys) rs1555618860
NM_001042492.3(NF1):c.4577+1G>C rs1279529138
NM_001042492.3(NF1):c.4577+2T>G rs1597747184
NM_001042492.3(NF1):c.4578-14T>G
NM_001042492.3(NF1):c.4578-20_4578-18del rs1597748617
NM_001042492.3(NF1):c.4578-3del rs1597748663
NM_001042492.3(NF1):c.4578-8G>C rs375758486
NM_001042492.3(NF1):c.4578-9T>A rs2067688959
NM_001042492.3(NF1):c.4635C>A (p.Tyr1545Ter) rs754023358
NM_001042492.3(NF1):c.464G>A (p.Ser155Asn) rs1555606113
NM_001042492.3(NF1):c.4658del (p.Pro1553fs) rs1555619029
NM_001042492.3(NF1):c.4669dup (p.Thr1557fs) rs1555619033
NM_001042492.3(NF1):c.466C>T (p.Arg156Cys) rs755890242
NM_001042492.3(NF1):c.467G>T (p.Arg156Leu) rs754096545
NM_001042492.3(NF1):c.469A>G (p.Ile157Val) rs1555606118
NM_001042492.3(NF1):c.4720_4724del (p.Thr1574fs) rs2067692232
NM_001042492.3(NF1):c.4724+1G>A rs1555619056
NM_001042492.3(NF1):c.4738G>T (p.Glu1580Ter) rs2067764827
NM_001042492.3(NF1):c.4744_4745del (p.Glu1582fs) rs1555619395
NM_001042492.3(NF1):c.4786G>C (p.Ala1596Pro) rs2151470213
NM_001042492.3(NF1):c.4787C>G (p.Ala1596Gly) rs1567865042
NM_001042492.3(NF1):c.479+1G>T rs1555606137
NM_001042492.3(NF1):c.479+3T>G rs876658752
NM_001042492.3(NF1):c.479+5G>T rs1567818033
NM_001042492.3(NF1):c.4796C>A (p.Ser1599Tyr) rs1555619407
NM_001042492.3(NF1):c.47G>C (p.Arg16Pro) rs1555594493
NM_001042492.3(NF1):c.4801G>A (p.Ala1601Thr) rs754651519
NM_001042492.3(NF1):c.4804G>A (p.Gly1602Arg) rs878853898
NM_001042492.3(NF1):c.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.4835+1G>A rs1085307819
NM_001042492.3(NF1):c.4835+1G>T rs1085307819
NM_001042492.3(NF1):c.4836-1G>A rs1057518326
NM_001042492.3(NF1):c.4836-1G>T rs1057518326
NM_001042492.3(NF1):c.4836-2A>G rs1555533265
NM_001042492.3(NF1):c.484C>A (p.Gln162Lys) rs1555607073
NM_001042492.3(NF1):c.4856A>G (p.Asn1619Ser) rs1466167635
NM_001042492.3(NF1):c.4880T>A (p.Val1627Asp) rs1567611231
NM_001042492.3(NF1):c.4884dup (p.Leu1629fs) rs2508694547
NM_001042492.3(NF1):c.4886T>C (p.Leu1629Pro) rs1555533288
NM_001042492.3(NF1):c.4903_4917del (p.Tyr1635_Tyr1639del) rs2069327013
NM_001042492.3(NF1):c.4930G>A (p.Asp1644Asn) rs1131691123
NM_001042492.3(NF1):c.4934T>G (p.Leu1645Arg) rs1555533305
NM_001042492.3(NF1):c.494C>G (p.Thr165Ser) rs876660009
NM_001042492.3(NF1):c.4958G>A (p.Arg1653His) rs763413441
NM_001042492.3(NF1):c.4998del (p.Pro1667fs) rs1135402867
NM_001042492.3(NF1):c.5018A>G (p.Asn1673Ser) rs1201910133
NM_001042492.3(NF1):c.5020G>A (p.Val1674Ile) rs1555533342
NM_001042492.3(NF1):c.5026G>A (p.Ala1676Thr) rs756450772
NM_001042492.3(NF1):c.5030TCTATA[1] (p.Ile1679_Tyr1680del) rs1135402868
NM_001042492.3(NF1):c.5033A>G (p.Tyr1678Cys) rs1555533347
NM_001042492.3(NF1):c.5039A>G (p.Tyr1680Cys) rs758361270
NM_001042492.3(NF1):c.5040T>C (p.Tyr1680=) rs1555533351
NM_001042492.3(NF1):c.5040dup (p.Asn1681Ter) rs2508696394
NM_001042492.3(NF1):c.5044T>C (p.Cys1682Arg) rs1597829901
NM_001042492.3(NF1):c.5045_5046del (p.Asn1681_Cys1682insTer) rs1597829906
NM_001042492.3(NF1):c.5114G>A (p.Arg1705Lys) rs876660487
NM_001042492.3(NF1):c.5146G>A (p.Ala1716Thr) rs767469374
NM_001042492.3(NF1):c.5157dup (p.Glu1720fs) rs2508697639
NM_001042492.3(NF1):c.5169A>T (p.Gln1723His) rs864622372
NM_001042492.3(NF1):c.5191T>G (p.Leu1731Val) rs876658602
NM_001042492.3(NF1):c.5215G>C (p.Val1739Leu) rs876659956
NM_001042492.3(NF1):c.5221C>A (p.His1741Asn) rs780529277
NM_001042492.3(NF1):c.5268+2T>G rs1555533416
NM_001042492.3(NF1):c.5269-14C>G rs753463683
NM_001042492.3(NF1):c.5269-19C>A rs755620051
NM_001042492.3(NF1):c.5269-1G>C rs876660141
NM_001042492.3(NF1):c.5269-8C>G rs1597831805
NM_001042492.3(NF1):c.5270T>G (p.Val1757Gly) rs1021835871
NM_001042492.3(NF1):c.527A>G (p.Asp176Gly) rs1567820732
NM_001042492.3(NF1):c.5285T>A (p.Val1762Asp) rs1555533550
NM_001042492.3(NF1):c.5297C>G (p.Ser1766Ter) rs1555533555
NM_001042492.3(NF1):c.5311A>G (p.Lys1771Glu) rs1131691103
NM_001042492.3(NF1):c.5357C>A (p.Ser1786Ter) rs1555533569
NM_001042492.3(NF1):c.5374del (p.Cys1792fs) rs2069378463
NM_001042492.3(NF1):c.5450G>A (p.Cys1817Tyr) rs1555533589
NM_001042492.3(NF1):c.5483G>A (p.Arg1828Gln) rs876660298
NM_001042492.3(NF1):c.5488C>G (p.Arg1830Gly) rs797045139
NM_001042492.3(NF1):c.5489G>A (p.Arg1830His) rs771529172
NM_001042492.3(NF1):c.5489G>T (p.Arg1830Leu) rs771529172
NM_001042492.3(NF1):c.548T>A (p.Ile183Asn) rs2143707759
NM_001042492.3(NF1):c.5491T>G (p.Trp1831Gly) rs2069382435
NM_001042492.3(NF1):c.5509G>A (p.Asp1837Asn) rs771597781
NM_001042492.3(NF1):c.5517C>A (p.Ile1839=) rs865839207
NM_001042492.3(NF1):c.5521C>T (p.Gln1841Ter) rs786203570
NM_001042492.3(NF1):c.5534T>C (p.Ile1845Thr) rs1060500339
NM_001042492.3(NF1):c.5534T>G (p.Ile1845Ser) rs1060500339
NM_001042492.3(NF1):c.5546A>T (p.Asp1849Val) rs1170679293
NM_001042492.3(NF1):c.5548G>T (p.Val1850Phe) rs1597832397
NM_001042492.3(NF1):c.5552C>T (p.Pro1851Leu) rs1555533638
NM_001042492.3(NF1):c.556G>T (p.Asp186Tyr) rs1567820765
NM_001042492.3(NF1):c.5572G>T (p.Ala1858Ser) rs786203416
NM_001042492.3(NF1):c.5601G>A (p.Pro1867=) rs766322878
NM_001042492.3(NF1):c.5609+5G>T rs1597832498
NM_001042492.3(NF1):c.5609G>C (p.Arg1870Pro) rs786202112
NM_001042492.3(NF1):c.5610-2A>T rs1135402876
NM_001042492.3(NF1):c.5619C>G (p.Ala1873=) rs786203335
NM_001042492.3(NF1):c.5625TCT[1] (p.Leu1877del) rs1131691081
NM_001042492.3(NF1):c.5650T>C (p.Phe1884Leu) rs1060500378
NM_001042492.3(NF1):c.5651T>G (p.Phe1884Cys) rs2151544505
NM_001042492.3(NF1):c.5652T>G (p.Phe1884Leu) rs1567613616
NM_001042492.3(NF1):c.5662del (p.Ile1888fs) rs2069449497
NM_001042492.3(NF1):c.5668G>T (p.Gly1890Cys) rs1597834706
NM_001042492.3(NF1):c.5705C>T (p.Ala1902Val) rs1465309384
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.5729C>G (p.Ser1910Cys) rs751904277
NM_001042492.3(NF1):c.5741C>A (p.Thr1914Lys) rs1555533873
NM_001042492.3(NF1):c.5744T>C (p.Leu1915Pro) rs1555533875
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.5780del (p.Leu1927fs) rs1135402880
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>C (p.Cys1930Arg) rs2069454402
NM_001042492.3(NF1):c.5802del (p.Phe1934fs) rs1597834952
NM_001042492.3(NF1):c.5813-1G>A rs1057518974
NM_001042492.3(NF1):c.5813-279A>G
NM_001042492.3(NF1):c.5836T>A (p.Leu1946Met) rs1422333640
NM_001042492.3(NF1):c.5851C>G (p.Pro1951Ala) rs1555534391
NM_001042492.3(NF1):c.5854T>C (p.Trp1952Arg) rs199474791
NM_001042492.3(NF1):c.5858T>C (p.Leu1953Pro) rs199474792
NM_001042492.3(NF1):c.586+2T>C rs1135402791
NM_001042492.3(NF1):c.586+5G>C rs1060500284
NM_001042492.3(NF1):c.5867T>G (p.Leu1956Arg) rs1597840087
NM_001042492.3(NF1):c.587-14T>A rs940581106
NM_001042492.3(NF1):c.587-2A>G rs1057518360
NM_001042492.3(NF1):c.5872del (p.Arg1958fs) rs2069603045
NM_001042492.3(NF1):c.58C>T (p.Gln20Ter) rs1567786905
NM_001042492.3(NF1):c.590C>G (p.Thr197Arg) rs1597658021
NM_001042492.3(NF1):c.5924T>C (p.Leu1975Pro) rs1555534411
NM_001042492.3(NF1):c.592G>A (p.Ala198Thr) rs1555608643
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.5970A>G (p.Pro1990=) rs876658601
NM_001042492.3(NF1):c.5991G>A (p.Trp1997Ter) rs876660696
NM_001042492.3(NF1):c.59A>C (p.Gln20Pro) rs1598173901
NM_001042492.3(NF1):c.60+1G>C rs1555594500
NM_001042492.3(NF1):c.60+2T>C rs2143145948
NM_001042492.3(NF1):c.6001G>A (p.Gly2001Arg) rs199474751
NM_001042492.3(NF1):c.6006+4T>C rs754909198
NM_001042492.3(NF1):c.6006G>C (p.Gln2002His) rs1555534432
NM_001042492.3(NF1):c.6022G>C (p.Asp2008His) rs786201924
NM_001042492.3(NF1):c.6052A>C (p.Ser2018Arg) rs2151553286
NM_001042492.3(NF1):c.61-4del rs551568608
NM_001042492.3(NF1):c.61-7486G>T rs1597617010
NM_001042492.3(NF1):c.610dup (p.Leu204fs) rs1135402793
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.6147+2T>C rs1555534621
NM_001042492.3(NF1):c.6147+8C>G rs182709912
NM_001042492.3(NF1):c.6147G>A (p.Lys2049=) rs1135402882
NM_001042492.3(NF1):c.6147G>C (p.Lys2049Asn) rs1135402882
NM_001042492.3(NF1):c.6148-1G>C rs1555534661
NM_001042492.3(NF1):c.6148-2A>G rs2069681259
NM_001042492.3(NF1):c.615G>A (p.Lys205=) rs1135402794
NM_001042492.3(NF1):c.6162G>A (p.Met2054Ile) rs876660651
NM_001042492.3(NF1):c.6196A>G (p.Thr2066Ala) rs1567616928
NM_001042492.3(NF1):c.6221del (p.Met2074fs) rs2069683635
NM_001042492.3(NF1):c.6293C>T (p.Ala2098Val) rs764106639
NM_001042492.3(NF1):c.6295C>T (p.His2099Tyr) rs1060500382
NM_001042492.3(NF1):c.6304dup (p.Tyr2102fs) rs1555534712
NM_001042492.3(NF1):c.633A>G (p.Ala211=) rs876660800
NM_001042492.3(NF1):c.6355A>T (p.Arg2119Ter) rs2151554939
NM_001042492.3(NF1):c.6365C>T (p.Thr2122Ile) rs878853907
NM_001042492.3(NF1):c.6374T>C (p.Leu2125Pro) rs1597843129
NM_001042492.3(NF1):c.6401_6402del (p.Cys2134fs) rs1597843186
NM_001042492.3(NF1):c.6424A>C (p.Ser2142Arg) rs1135402886
NM_001042492.3(NF1):c.6428-11T>G rs2151555896
NM_001042492.3(NF1):c.6428-2A>C rs1060500312
NM_001042492.3(NF1):c.6428-3C>A rs374014162
NM_001042492.3(NF1):c.6428-3C>G rs374014162
NM_001042492.3(NF1):c.6462dup (p.Glu2155fs) rs1135402888
NM_001042492.3(NF1):c.6473T>A (p.Leu2158Ter) rs2151556088
NM_001042492.3(NF1):c.64C>T (p.Pro22Ser) rs1597625794
NM_001042492.3(NF1):c.6527T>C (p.Ile2176Thr) rs2069705362
NM_001042492.3(NF1):c.6535C>T (p.Arg2179Cys) rs878853908
NM_001042492.3(NF1):c.655-2A>C rs1555608734
NM_001042492.3(NF1):c.6571T>C (p.Ser2191Pro) rs754630324
NM_001042492.3(NF1):c.6600del (p.Ser2201fs) rs1135402892
NM_001042492.3(NF1):c.6623C>G (p.Ala2208Gly) rs1555534886
NM_001042492.3(NF1):c.6630G>A (p.Leu2210=) rs886052801
NM_001042492.3(NF1):c.6642+18A>G rs1555534893
NM_001042492.3(NF1):c.6642G>T (p.Glu2214Asp) rs876660207
NM_001042492.3(NF1):c.6643-1G>A
NM_001042492.3(NF1):c.6647G>T (p.Cys2216Phe) rs1567617669
NM_001042492.3(NF1):c.6657T>G (p.Asp2219Glu) rs786203831
NM_001042492.3(NF1):c.6669C>A (p.Cys2223Ter) rs1555534918
NM_001042492.3(NF1):c.6675G>A (p.Trp2225Ter) rs2069717916
NM_001042492.3(NF1):c.667T>C (p.Trp223Arg) rs1555608740
NM_001042492.3(NF1):c.6685T>C (p.Trp2229Arg) rs1060500342
NM_001042492.3(NF1):c.6691G>A (p.Glu2231Lys) rs1024484381
NM_001042492.3(NF1):c.6697G>A (p.Ala2233Thr) rs2069718829
NM_001042492.3(NF1):c.6704+4T>C rs1555534930
NM_001042492.3(NF1):c.6705-17G>A rs1064795966
NM_001042492.3(NF1):c.6705-1G>A rs1060500356
NM_001042492.3(NF1):c.6705-3C>A rs1131691079
NM_001042492.3(NF1):c.6705-5T>G rs1597844956
NM_001042492.3(NF1):c.6777del (p.Ser2260fs) rs2508759534
NM_001042492.3(NF1):c.677A>C (p.Asn226Thr) rs770339628
NM_001042492.3(NF1):c.6782A>G (p.His2261Arg) rs201336602
NM_001042492.3(NF1):c.6784G>T (p.Gly2262Trp) rs1392981001
NM_001042492.3(NF1):c.6805C>T (p.Arg2269Cys) rs1555534961
NM_001042492.3(NF1):c.6819+2T>C rs1135402894
NM_001042492.3(NF1):c.6819+3A>G rs1555534966
NM_001042492.3(NF1):c.6819G>A (p.Lys2273=) rs1060500373
NM_001042492.3(NF1):c.6819G>T (p.Lys2273Asn) rs1060500373
NM_001042492.3(NF1):c.681T>C (p.Tyr227=) rs745804540
NM_001042492.3(NF1):c.6820-10T>G rs1597845883
NM_001042492.3(NF1):c.6820-2A>G
NM_001042492.3(NF1):c.6820-6T>C rs1597845896
NM_001042492.3(NF1):c.6820-8C>T rs1060503909
NM_001042492.3(NF1):c.6833dup (p.Cys2278fs) rs1555535027
NM_001042492.3(NF1):c.6864A>G (p.Gln2288=) rs1064794756
NM_001042492.3(NF1):c.6893T>C (p.Leu2298Pro) rs1597846070
NM_001042492.3(NF1):c.6920A>G (p.Lys2307Arg) rs765418194
NM_001042492.3(NF1):c.6921+1G>A rs1060500355
NM_001042492.3(NF1):c.6921+3A>G rs1085307885
NM_001042492.3(NF1):c.6922-3C>T rs876659438
NM_001042492.3(NF1):c.6939del (p.Ala2314fs) rs2069790028
NM_001042492.3(NF1):c.6952G>T (p.Val2318Leu) rs760528229
NM_001042492.3(NF1):c.6968T>C (p.Leu2323Pro) rs1131691267
NM_001042492.3(NF1):c.6978T>C (p.Asp2326=) rs1135402896
NM_001042492.3(NF1):c.7000G>C (p.Gly2334Arg) rs1597848100
NM_001042492.3(NF1):c.7006G>T (p.Ala2336Ser) rs587781428
NM_001042492.3(NF1):c.7009CTT[1] (p.Leu2338del) rs2069792818
NM_001042492.3(NF1):c.7010T>G (p.Leu2337Arg) rs1555535179
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.702_703inv (p.Tyr235His)
NM_001042492.3(NF1):c.703T>C (p.Tyr235His) rs864622465
NM_001042492.3(NF1):c.7046G>T (p.Arg2349Leu) rs864622065
NM_001042492.3(NF1):c.7057_7059del (p.Asp2353del) rs786203558
NM_001042492.3(NF1):c.7062+2T>C rs1135402898
NM_001042492.3(NF1):c.7063-3T>G rs1241158120
NM_001042492.3(NF1):c.7063-4A>G rs749805168
NM_001042492.3(NF1):c.706C>G (p.Gln236Glu) rs1597658664
NM_001042492.3(NF1):c.7090C>T (p.Arg2364Trp) rs1567620403
NM_001042492.3(NF1):c.7153AACTTT[1] (p.2385NF[1]) rs864622639
NM_001042492.3(NF1):c.7157T>C (p.Phe2386Ser) rs1555535439
NM_001042492.3(NF1):c.7181T>G (p.Leu2394Arg) rs1135402899
NM_001042492.3(NF1):c.7184T>G (p.Leu2395Ter) rs2508780368
NM_001042492.3(NF1):c.7189+8dup rs753952604
NM_001042492.3(NF1):c.7189G>A (p.Gly2397Arg) rs1135402900
NM_001042492.3(NF1):c.7190-12T>A rs1597858284
NM_001042492.3(NF1):c.7190-1G>A rs2070073417
NM_001042492.3(NF1):c.7190-33TTGT[7] rs149197458
NM_001042492.3(NF1):c.7190-5T>G rs748245325
NM_001042492.3(NF1):c.7201C>T (p.Pro2401Ser) rs1597858372
NM_001042492.3(NF1):c.7225A>G (p.Thr2409Ala) rs1555536021
NM_001042492.3(NF1):c.7246C>T (p.Leu2416=) rs786201310
NM_001042492.3(NF1):c.7262A>G (p.Asn2421Ser) rs774339063
NM_001042492.3(NF1):c.7278_7279del (p.Cys2426_Asp2427delinsTer) rs2070076932
NM_001042492.3(NF1):c.7297A>G (p.Thr2433Ala) rs1597858568
NM_001042492.3(NF1):c.730+1G>T rs1060500274
NM_001042492.3(NF1):c.7317AGC[1] (p.Ala2441del) rs1085307506
NM_001042492.3(NF1):c.7321+1G>A rs1135402903
NM_001042492.3(NF1):c.7321+1G>T rs1135402903
NM_001042492.3(NF1):c.7322-2A>G rs2151574219
NM_001042492.3(NF1):c.7340AAG[1] (p.Glu2448del) rs587781961
NM_001042492.3(NF1):c.7368A>C (p.Lys2456Asn) rs201287021
NM_001042492.3(NF1):c.7369C>T (p.His2457Tyr) rs768404575
NM_001042492.3(NF1):c.7373G>A (p.Arg2458Lys) rs1555536130
NM_001042492.3(NF1):c.737C>A (p.Ala246Glu) rs2066155612
NM_001042492.3(NF1):c.7415C>G (p.Pro2472Arg) rs786202184
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.7429C>G (p.Pro2477Ala) rs876658722
NM_001042492.3(NF1):c.7442G>T (p.Gly2481Val) rs786202540
NM_001042492.3(NF1):c.7446C>A (p.Asp2482Glu) rs876660614
NM_001042492.3(NF1):c.7458-3C>G rs1158267419
NM_001042492.3(NF1):c.7481G>A (p.Trp2494Ter) rs2070167232
NM_001042492.3(NF1):c.7496G>T (p.Gly2499Val) rs375176282
NM_001042492.3(NF1):c.74C>T (p.Thr25Ile) rs1555604874
NM_001042492.3(NF1):c.7509C>T (p.Tyr2503=) rs1555536359
NM_001042492.3(NF1):c.7526C>T (p.Pro2509Leu) rs786202146
NM_001042492.3(NF1):c.7537C>T (p.Gln2513Ter) rs2070170274
NM_001042492.3(NF1):c.7550G>A (p.Arg2517Gln) rs755260088
NM_001042492.3(NF1):c.755TGG[1] (p.Val253del) rs1060500323
NM_001042492.3(NF1):c.7581del (p.Gln2528fs) rs878853917
NM_001042492.3(NF1):c.7594G>A (p.Ala2532Thr) rs1555536373
NM_001042492.3(NF1):c.7635T>A (p.Asp2545Glu) rs876659530
NM_001042492.3(NF1):c.7663A>G (p.Lys2555Glu) rs786203792
NM_001042492.3(NF1):c.7693A>G (p.Thr2565Ala) rs786202548
NM_001042492.3(NF1):c.7700C>G (p.Pro2567Arg) rs754511534
NM_001042492.3(NF1):c.7744C>T (p.Gln2582Ter) rs587781651
NM_001042492.3(NF1):c.7767G>C (p.Gln2589His) rs587782168
NM_001042492.3(NF1):c.7774C>A (p.His2592Asn) rs749460130
NM_001042492.3(NF1):c.7781G>T (p.Arg2594Leu) rs774781617
NM_001042492.3(NF1):c.7793T>C (p.Val2598Ala) rs760531845
NM_001042492.3(NF1):c.7804A>T (p.Asn2602Tyr) rs150657839
NM_001042492.3(NF1):c.7807G>C (p.Val2603Leu) rs766135206
NM_001042492.3(NF1):c.7830_7833del (p.Thr2611fs)
NM_001042492.3(NF1):c.7846C>T (p.Gln2616Ter) rs1555536713
NM_001042492.3(NF1):c.784C>T (p.Arg262Cys) rs754343223
NM_001042492.3(NF1):c.7867C>G (p.Leu2623Val) rs1555536721
NM_001042492.3(NF1):c.7870-13dup rs369360556
NM_001042492.3(NF1):c.7870-20A>G rs574898272
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter) rs786201367
NM_001042492.3(NF1):c.7915C>G (p.Leu2639Val) rs1057518362
NM_001042492.3(NF1):c.7920T>G (p.Tyr2640Ter) rs1060500333
NM_001042492.3(NF1):c.7931C>A (p.Ala2644Glu) rs766494934
NM_001042492.3(NF1):c.7947_7948del (p.Phe2650fs) rs2070298589
NM_001042492.3(NF1):c.7963C>A (p.Pro2655Thr) rs587781791
NM_001042492.3(NF1):c.7963C>T (p.Pro2655Ser) rs587781791
NM_001042492.3(NF1):c.7970+3A>G rs1567627282
NM_001042492.3(NF1):c.7970+4_7970+7del rs1064794279
NM_001042492.3(NF1):c.7970+5G>T rs1567627286
NM_001042492.3(NF1):c.7970+6T>C rs1555536775
NM_001042492.3(NF1):c.7971-17C>G
NM_001042492.3(NF1):c.7971-1G>T rs1417908560
NM_001042492.3(NF1):c.7971-321C>G rs2070316606
NM_001042492.3(NF1):c.8061T>C (p.Ser2687=) rs786202936
NM_001042492.3(NF1):c.808C>T (p.Gln270Ter) rs1555608970
NM_001042492.3(NF1):c.8138G>A (p.Arg2713Gln) rs1170836879
NM_001042492.3(NF1):c.8161-3C>G rs786203684
NM_001042492.3(NF1):c.8161-3C>T rs786203684
NM_001042492.3(NF1):c.8183C>T (p.Ala2728Val) rs760973918
NM_001042492.3(NF1):c.819_821del (p.Leu274del) rs2143786045
NM_001042492.3(NF1):c.8222C>T (p.Thr2741Met) rs144178015
NM_001042492.3(NF1):c.8227C>G (p.Leu2743Val) rs1597870180
NM_001042492.3(NF1):c.8477G>C (p.Ser2826Thr) rs1057523477
NM_001042492.3(NF1):c.848A>G (p.Asp283Gly) rs878853921
NM_001042492.3(NF1):c.8497A>C (p.Asn2833His) rs786202863
NM_001042492.3(NF1):c.8511G>A (p.Lys2837=) rs752398289
NM_001042492.3(NF1):c.872A>C (p.Glu291Ala) rs876660171
NM_001042492.3(NF1):c.885T>A (p.Asn295Lys) rs864622300
NM_001042492.3(NF1):c.886A>T (p.Lys296Ter) rs1135402798
NM_001042492.3(NF1):c.888+1G>C rs1135402799
NM_001042492.3(NF1):c.888+789A>G rs1597660974
NM_001042492.3(NF1):c.889-12T>A
NM_001042492.3(NF1):c.889-1G>A rs587781517
NM_001042492.3(NF1):c.889-21C>A rs753797445
NM_001042492.3(NF1):c.923C>G (p.Ala308Gly) rs876660836
NM_001042492.3(NF1):c.943C>T (p.Gln315Ter) rs766011053
NM_001042492.3(NF1):c.958G>C (p.Ala320Pro) rs2066507272
NM_001042492.3(NF1):c.965T>C (p.Ile322Thr) rs1417994243
NM_001042492.3(NF1):c.968C>A (p.Ala323Asp) rs2066507556
NM_001042492.3(NF1):c.980T>G (p.Leu327Arg) rs201624827
NM_001042492.3(NF1):c.987A>G (p.Lys329=) rs2066508210
NM_001042492.3(NF1):c.989C>T (p.Ala330Val) rs1555610898
NM_001042492.3(NF1):c.999C>A (p.Tyr333Ter) rs1466912192
NM_001042492.3(NF1):c.99A>G (p.Lys33=) rs786203280

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