ClinVar Miner

List of variants studied for canthal anomaly

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2404
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HGVS dbSNP
46;XX;t(5;7)(q12.2;q21.2)mat
46;XX;t(6;15)(q23;q22)dn
46;XY;t(1;9;5)(compleX)dn
DHCR7, 1-BP INS, 505C
DHCR7, 1-BP INS, 586T
DHCR7, 96-BP DEL
DHCR7, TRP37TER
GRCh37/hg19 5p15.33-14.1(chr5:140474-26906925)
GRCh37/hg19 5p15.33-14.3(chr5:71904-22078969)
GRCh37/hg19 5p15.33-15.31(chr5:140474-9792158)
GRCh37/hg19 7q11.22-11.23(chr7:71847968-73391310)
GRCh37/hg19 7q11.23(chr7:72700996-74142190)
GRCh37/hg19 7q11.23(chr7:72721449-73959106)
GRCh37/hg19 7q11.23(chr7:72744494-74339044)
GRCh37/hg19 7q11.23(chr7:72744494-76038818)
GRCh37/hg19 7q11.23(chr7:72772522-74133319)
MID1, 24-BP DUP
MID1, EX1 DUP
NC_000001.10:g.(?_155870159)_(155880696_?)dup
NC_000001.10:g.(?_155874092)_(155880686_?)dup
NC_000001.10:g.(?_155880221)_(156109650_?)del
NC_000003.12:g.12664140G>C
NC_000005.10:g.(?_150387882)_(150399068_?)del
NC_000005.10:g.(?_150396282)_(150399070_?)del
NC_000005.10:g.(?_150399002)_(150399068_?)del
NC_000005.9:g.(?_149775825)_(149778631_?)del
NC_000005.9:g.(?_149776191_149778631del
NC_000007.14:g.73773313_74086695del
NC_000011.10:g.(?_71441217)_(71441450_?)del
NC_000011.10:g.(?_71441217)_(71444962_?)del
NC_000011.10:g.(?_71443983)_(71444962_?)del
NC_000011.9:g.(?_71146411)_(71146895_?)del
NC_000011.9:g.(?_71146411)_(71152496_?)del
NC_000012.12:g.112418936G>T
NC_000013.11:g.46968080_87381985del40413906
NC_000014.8:g.(?_50092240)_(50698021_?)dup
NC_000014.9:g.(?_50188487)_(50204419_?)dup
NC_000023.10:g.168551_155233098del
NM_000356.4(TCOF1):c.1011C>T (p.Ser337=) rs151344569
NM_000356.4(TCOF1):c.1047+1G>A rs886041506
NM_000356.4(TCOF1):c.1047+60G>C rs143713714
NM_000356.4(TCOF1):c.1050G>A (p.Ala350=) rs113299143
NM_000356.4(TCOF1):c.1069C>T (p.Pro357Ser) rs143519179
NM_000356.4(TCOF1):c.108+62_108+68del rs151344564
NM_000356.4(TCOF1):c.109-28T>C rs144149485
NM_000356.4(TCOF1):c.1127dup (p.Ala377fs) rs1554136123
NM_000356.4(TCOF1):c.1146_1147del (p.Gly383fs) rs1562347303
NM_000356.4(TCOF1):c.1148G>T (p.Gly383Val) rs369804013
NM_000356.4(TCOF1):c.1217_1220del (p.Asp406fs) rs1064794474
NM_000356.4(TCOF1):c.122C>T (p.Ala41Val) rs56180593
NM_000356.4(TCOF1):c.1347C>T (p.Pro449=) rs2071238
NM_000356.4(TCOF1):c.1359G>A (p.Gly453=) rs145539529
NM_000356.4(TCOF1):c.1367C>T (p.Thr456Ile) rs377521530
NM_000356.4(TCOF1):c.1440T>C (p.Asp480=) rs142758482
NM_000356.4(TCOF1):c.1474G>A (p.Glu492Lys) rs764314276
NM_000356.4(TCOF1):c.149A>G (p.Tyr50Cys) rs28941769
NM_000356.4(TCOF1):c.1530G>T (p.Gly510=) rs7701163
NM_000356.4(TCOF1):c.1552G>A (p.Val518Ile) rs75583421
NM_000356.4(TCOF1):c.1611A>G (p.Ser537=) rs2071239
NM_000356.4(TCOF1):c.1623G>A (p.Ala541=) rs151344570
NM_000356.4(TCOF1):c.162A>G (p.Gln54=) rs73270831
NM_000356.4(TCOF1):c.1722T>C (p.Thr574=) rs151344571
NM_000356.4(TCOF1):c.1759C>T (p.Gln587Ter) rs896979080
NM_000356.4(TCOF1):c.1762G>C (p.Ala588Pro) rs2071240
NM_000356.4(TCOF1):c.1769G>A (p.Arg590Gln) rs146735293
NM_000356.4(TCOF1):c.1857T>G (p.Ser619Arg) rs140334121
NM_000356.4(TCOF1):c.1862A>T (p.Glu621Val) rs760265000
NM_000356.4(TCOF1):c.1863A>G (p.Glu621=) rs34796297
NM_000356.4(TCOF1):c.187C>T (p.Arg63Trp) rs367964727
NM_000356.4(TCOF1):c.1911+22C>T rs151344572
NM_000356.4(TCOF1):c.1915_1916del (p.Lys639fs) rs1554137419
NM_000356.4(TCOF1):c.2014C>T (p.Pro672Ser) rs73270846
NM_000356.4(TCOF1):c.2344C>G (p.Gln782Glu) rs201043592
NM_000356.4(TCOF1):c.2429T>C (p.Val810Ala) rs7713638
NM_000356.4(TCOF1):c.2531C>T (p.Pro844Leu) rs150515843
NM_000356.4(TCOF1):c.2534C>T (p.Ser845Leu) rs114689020
NM_000356.4(TCOF1):c.2535G>A (p.Ser845=) rs369562565
NM_000356.4(TCOF1):c.2564C>G (p.Ser855Ter) rs1554138811
NM_000356.4(TCOF1):c.2565_2566del (p.Gly856fs) rs1554138819
NM_000356.4(TCOF1):c.2611G>T (p.Ala871Ser) rs181102251
NM_000356.4(TCOF1):c.2628+26A>G rs151344574
NM_000356.4(TCOF1):c.2628+3303G>A rs112447402
NM_000356.4(TCOF1):c.2628+3389G>T rs151344575
NM_000356.4(TCOF1):c.2731C>T (p.Arg911Ter) rs119470017
NM_000356.4(TCOF1):c.2739G>A (p.Ser913=) rs370130791
NM_000356.4(TCOF1):c.2785G>A (p.Val929Met) rs368011460
NM_000356.4(TCOF1):c.2876dup (p.Ser959fs) rs587777314
NM_000356.4(TCOF1):c.2902dup (p.Glu968fs) rs1554078461
NM_000356.4(TCOF1):c.295G>A (p.Ala99Thr) rs112332762
NM_000356.4(TCOF1):c.305-52A>G rs41287124
NM_000356.4(TCOF1):c.3108G>A (p.Gln1036=) rs147074393
NM_000356.4(TCOF1):c.3195C>T (p.Ser1065=) rs138291748
NM_000356.4(TCOF1):c.3262G>C (p.Gly1088Arg) rs141095369
NM_000356.4(TCOF1):c.3279C>T (p.His1093=) rs116354094
NM_000356.4(TCOF1):c.3296C>G (p.Pro1099Arg) rs1136103
NM_000356.4(TCOF1):c.3297C>T (p.Pro1099=) rs149395927
NM_000356.4(TCOF1):c.3369+64dup rs151344577
NM_000356.4(TCOF1):c.3370-3C>T rs11743855
NM_000356.4(TCOF1):c.3389T>A (p.Met1130Lys) rs139081024
NM_000356.4(TCOF1):c.3449C>T (p.Ser1150Phe) rs1554079581
NM_000356.4(TCOF1):c.3455C>T (p.Pro1152Leu) rs768747268
NM_000356.4(TCOF1):c.3478G>A (p.Ala1160Thr) rs137960641
NM_000356.4(TCOF1):c.3550+8A>G rs151344578
NM_000356.4(TCOF1):c.3557_3558del (p.Lys1186fs) rs1581223107
NM_000356.4(TCOF1):c.3652A>G (p.Ile1218Val) rs1297478685
NM_000356.4(TCOF1):c.3711A>C (p.Ser1237=) rs146509895
NM_000356.4(TCOF1):c.3739dup (p.Glu1247fs) rs1554080460
NM_000356.4(TCOF1):c.376_378+15del rs587776584
NM_000356.4(TCOF1):c.3773A>G (p.Lys1258Arg) rs55980697
NM_000356.4(TCOF1):c.378+1G>A rs1581064385
NM_000356.4(TCOF1):c.3789G>A (p.Lys1263=) rs199890846
NM_000356.4(TCOF1):c.3819G>A (p.Ser1273=) rs114169102
NM_000356.4(TCOF1):c.3865A>C (p.Lys1289Gln) rs201234047
NM_000356.4(TCOF1):c.386_387del (p.Thr129fs) rs797046037
NM_000356.4(TCOF1):c.3938C>T (p.Ala1313Val) rs15251
NM_000356.4(TCOF1):c.3987dup (p.Ser1330fs) rs1561540623
NM_000356.4(TCOF1):c.4061G>C (p.Gly1354Ala) rs45491898
NM_000356.4(TCOF1):c.4064_4065delinsGA (p.Asp1355Gly) rs151344580
NM_000356.4(TCOF1):c.4124_4125del (p.Lys1375fs) rs1554081108
NM_000356.4(TCOF1):c.4126_4129del (p.Glu1376fs) rs1554081112
NM_000356.4(TCOF1):c.4127A>G (p.Glu1376Gly) rs1561543582
NM_000356.4(TCOF1):c.4130_4134del (p.Lys1377fs) rs587776585
NM_000356.4(TCOF1):c.4134del (p.Glu1379fs) rs587776585
NM_000356.4(TCOF1):c.4134dup (p.Glu1379fs) rs587776585
NM_000356.4(TCOF1):c.4154A>G (p.Lys1385Arg) rs200645401
NM_000356.4(TCOF1):c.4175_4176del (p.Asp1391_Ser1392insTer) rs1554081168
NM_000356.4(TCOF1):c.4184C>T (p.Pro1395Leu) rs148367422
NM_000356.4(TCOF1):c.4209+106G>T rs151344582
NM_000356.4(TCOF1):c.4209+108C>A rs111365835
NM_000356.4(TCOF1):c.4224G>A (p.Glu1408=) rs116268092
NM_000356.4(TCOF1):c.422dup (p.His141fs) rs587776580
NM_000356.4(TCOF1):c.449A>G (p.Asn150Ser) rs141805606
NM_000356.4(TCOF1):c.497_500del (p.Asn166fs) rs587776581
NM_000356.4(TCOF1):c.503C>T (p.Thr168Met) rs181203524
NM_000356.4(TCOF1):c.50A>G (p.His17Arg) rs1057521108
NM_000356.4(TCOF1):c.534C>T (p.Ser178=) rs141250614
NM_000356.4(TCOF1):c.579G>A (p.Ala193=) rs142965998
NM_000356.4(TCOF1):c.640-1946C>T rs748805008
NM_000356.4(TCOF1):c.640-1973A>G rs1562326677
NM_000356.4(TCOF1):c.640-1981_640-1964del rs528897827
NM_000356.4(TCOF1):c.754C>T (p.Gln252Ter) rs119470016
NM_000356.4(TCOF1):c.768G>A (p.Gly256=) rs55918703
NM_000356.4(TCOF1):c.797G>A (p.Ser266Asn) rs144327167
NM_000356.4(TCOF1):c.852+39G>A rs56113366
NM_000356.4(TCOF1):c.855G>A (p.Ala285=) rs151344568
NM_000356.4(TCOF1):c.889G>T (p.Ala297Ser) rs112039991
NM_000356.4(TCOF1):c.902C>T (p.Ala301Val) rs75181211
NM_000356.4(TCOF1):c.998C>T (p.Ser333Leu) rs114326915
NM_000381.4(MID1):c.107G>A (p.Arg36His)
NM_000381.4(MID1):c.1142-1G>T
NM_000381.4(MID1):c.1311GAT[1] (p.Met438del) rs1569270035
NM_000381.4(MID1):c.1361A>G (p.Gln454Arg) rs1556004400
NM_000381.4(MID1):c.1393G>C (p.Ala465Pro) rs1556004366
NM_000381.4(MID1):c.1454del (p.Pro485fs) rs1556003200
NM_000381.4(MID1):c.1483C>T (p.Arg495Ter) rs745554420
NM_000381.4(MID1):c.1495G>A (p.Val499Met) rs868016081
NM_000381.4(MID1):c.1546_1547del (p.Thr518_Pro519insTer) rs1569268029
NM_000381.4(MID1):c.1558dup (p.Glu520fs) rs1569268013
NM_000381.4(MID1):c.1608_1611dup (p.Ser538Ter) rs1556003095
NM_000381.4(MID1):c.1655+1G>A
NM_000381.4(MID1):c.1663A>G (p.Ile555Val) rs398123341
NM_000381.4(MID1):c.1725G>A (p.Trp575Ter) rs1556001968
NM_000381.4(MID1):c.1798dup (p.His600fs) rs398123342
NM_000381.4(MID1):c.1877T>C (p.Leu626Pro) rs28934611
NM_000381.4(MID1):c.1881C>A (p.Tyr627Ter) rs1556001856
NM_000381.4(MID1):c.1917del (p.Thr640fs) rs1569265497
NM_000381.4(MID1):c.2000C>T (p.Pro667Leu) rs147106995
NM_000381.4(MID1):c.343G>T (p.Glu115Ter) rs104894865
NM_000381.4(MID1):c.388G>A (p.Ala130Thr)
NM_000381.4(MID1):c.476A>G (p.His159Arg)
NM_000381.4(MID1):c.712G>T (p.Glu238Ter) rs387906719
NM_000381.4(MID1):c.757-1G>C rs1555895725
NM_000381.4(MID1):c.757-5831A>G rs1555896387
NM_000381.4(MID1):c.829C>T (p.Arg277Ter) rs1555895704
NM_000381.4(MID1):c.884T>C (p.Leu295Pro) rs104894866
NM_000381.4(MID1):c.922del (p.Arg308fs) rs1555894390
NM_000393.5(COL5A2):c.754G>T (p.Gly252Cys) rs1553517323
NM_000501.4(ELN):c.1104_1105del (p.Ser369fs)
NM_000501.4(ELN):c.134-16T>C
NM_000501.4(ELN):c.1675G>A (p.Val559Ile) rs560081099
NM_000501.4(ELN):c.1909G>A (p.Ala637Thr) rs536177240
NM_000501.4(ELN):c.1943G>A (p.Gly648Glu) rs140085632
NM_000501.4(ELN):c.647G>T (p.Gly216Val) rs145612009
NM_000501.4(ELN):c.893T>C (p.Val298Ala)
NM_000527.5(LDLR):c.1617C>T (p.Pro539=) rs5929
NM_000527.5(LDLR):c.81C>T (p.Cys27=) rs2228671
NM_001085049.3(MRAS):c.203C>T (p.Thr68Ile) rs1576387876
NM_001085049.3(MRAS):c.212A>G (p.Gln71Arg) rs1576387885
NM_001085049.3(MRAS):c.68G>T (p.Gly23Val) rs1576359216
NM_001135243.1(TCOF1):c.-59G>A rs151344563
NM_001145468.3(SPECC1L):c.1292T>C (p.Leu431Pro) rs1556226291
NM_001163817.2(DHCR7):c.1012G>A (p.Val338Met) rs72954276
NM_001163817.2(DHCR7):c.1328G>A (p.Arg443His) rs781687341
NM_001163817.2(DHCR7):c.1341C>T (p.Asp447=) rs139721775
NM_001163817.2(DHCR7):c.1A>G (p.Met1Val) rs104886033
NM_001163817.2(DHCR7):c.278C>T (p.Thr93Met) rs80338853
NM_001163817.2(DHCR7):c.289G>A (p.Ala97Thr) rs150563256
NM_001163817.2(DHCR7):c.296T>C (p.Leu99Pro) rs104886041
NM_001163817.2(DHCR7):c.58A>G (p.Asn20Asp) rs772572550
NM_001163817.2(DHCR7):c.725G>A (p.Arg242His) rs80338857
NM_001163817.2(DHCR7):c.89G>C (p.Gly30Ala) rs200334114
NM_001163817.2(DHCR7):c.964-1G>T rs138659167
NM_001320141.2(RPL6):c.-296G>C
NM_001320141.2(RPL6):c.-322C>T
NM_001320141.2(RPL6):c.-326C>G rs377496292
NM_001354689.3(RAF1):c.*110T>C
NM_001354689.3(RAF1):c.*113T>G rs886057914
NM_001354689.3(RAF1):c.*120C>A
NM_001354689.3(RAF1):c.*160C>T rs5746246
NM_001354689.3(RAF1):c.*162T>C rs886057913
NM_001354689.3(RAF1):c.*190G>A rs528863135
NM_001354689.3(RAF1):c.*266C>T rs1051208
NM_001354689.3(RAF1):c.*348T>C rs5746247
NM_001354689.3(RAF1):c.*404G>A
NM_001354689.3(RAF1):c.*410A>G
NM_001354689.3(RAF1):c.*495C>T rs12808
NM_001354689.3(RAF1):c.*556G>A rs187286358
NM_001354689.3(RAF1):c.*606A>G rs556460176
NM_001354689.3(RAF1):c.*627C>T rs879160471
NM_001354689.3(RAF1):c.*628G>T
NM_001354689.3(RAF1):c.*630A>G
NM_001354689.3(RAF1):c.*640T>C rs759464247
NM_001354689.3(RAF1):c.*643C>G
NM_001354689.3(RAF1):c.*647G>T
NM_001354689.3(RAF1):c.*706C>T
NM_001354689.3(RAF1):c.*729_*732AACA[4] rs371820097
NM_001354689.3(RAF1):c.*729_*732AACA[6] rs371820097
NM_001354689.3(RAF1):c.*73T>A
NM_001354689.3(RAF1):c.*83C>T rs2229757
NM_001354689.3(RAF1):c.*840A>T
NM_001354689.3(RAF1):c.*841C>T
NM_001354689.3(RAF1):c.-107C>T
NM_001354689.3(RAF1):c.-110G>A rs886057917
NM_001354689.3(RAF1):c.-139T>G rs886057918
NM_001354689.3(RAF1):c.-146C>G rs886057919
NM_001354689.3(RAF1):c.-181T>C rs886057920
NM_001354689.3(RAF1):c.-201C>A rs532668125
NM_001354689.3(RAF1):c.-204G>C rs547543588
NM_001354689.3(RAF1):c.-209G>A rs727504351
NM_001354689.3(RAF1):c.-264C>G
NM_001354689.3(RAF1):c.-267G>A rs116247741
NM_001354689.3(RAF1):c.-27+7G>A rs886057916
NM_001354689.3(RAF1):c.-281C>G rs61761285
NM_001354689.3(RAF1):c.-53G>A
NM_001354689.3(RAF1):c.-59C>G
NM_001354689.3(RAF1):c.1139T>C (p.Phe380Ser)
NM_001354689.3(RAF1):c.1142G>C (p.Gly381Ala) rs397516813
NM_001354689.3(RAF1):c.1168+9_1168+21del rs727504451
NM_001354689.3(RAF1):c.119G>A (p.Arg40His) rs192632236
NM_001354689.3(RAF1):c.1201G>A (p.Asp401Asn) rs559632360
NM_001354689.3(RAF1):c.122G>A (p.Arg41Gln) rs145611571
NM_001354689.3(RAF1):c.1232G>T (p.Arg411Met) rs587782972
NM_001354689.3(RAF1):c.124G>A (p.Ala42Thr) rs200856000
NM_001354689.3(RAF1):c.1253G>T (p.Arg418Leu) rs730880382
NM_001354689.3(RAF1):c.125C>T (p.Ala42Val) rs11549992
NM_001354689.3(RAF1):c.1352A>C (p.Lys451Thr)
NM_001354689.3(RAF1):c.1478A>G (p.Asn493Ser)
NM_001354689.3(RAF1):c.1483T>C (p.Phe495Leu) rs730881003
NM_001354689.3(RAF1):c.1492G>A (p.Glu498Lys)
NM_001354689.3(RAF1):c.1517A>G (p.Asp506Gly) rs397516815
NM_001354689.3(RAF1):c.1526T>C (p.Leu509Ser)
NM_001354689.3(RAF1):c.1527G>C (p.Leu509Phe) rs1553610155
NM_001354689.3(RAF1):c.1527G>T (p.Leu509Phe) rs1553610155
NM_001354689.3(RAF1):c.1532C>G (p.Thr511Arg) rs80338799
NM_001354689.3(RAF1):c.1532C>T (p.Thr511Ile) rs80338799
NM_001354689.3(RAF1):c.1689G>C (p.Thr563=) rs5746244
NM_001354689.3(RAF1):c.1729-13T>C rs147475396
NM_001354689.3(RAF1):c.176G>A (p.Arg59His) rs1559447623
NM_001354689.3(RAF1):c.1781A>G (p.Tyr594Cys) rs370242565
NM_001354689.3(RAF1):c.1815A>G (p.Val605=) rs3730296
NM_001354689.3(RAF1):c.1874C>T (p.Ser625Phe) rs730881004
NM_001354689.3(RAF1):c.1890A>G (p.Gln630=) rs141791080
NM_001354689.3(RAF1):c.1897C>G (p.Leu633Val) rs80338797
NM_001354689.3(RAF1):c.1974G>A (p.Thr658=) rs144876026
NM_001354689.3(RAF1):c.2001C>T (p.Val667=) rs3730297
NM_001354689.3(RAF1):c.21T>C (p.Ala7=) rs886057915
NM_001354689.3(RAF1):c.220A>G (p.Asn74Asp)
NM_001354689.3(RAF1):c.226A>G (p.Met76Val) rs730880999
NM_001354689.3(RAF1):c.231C>T (p.Ser77=) rs1450510914
NM_001354689.3(RAF1):c.285C>G (p.Cys95Trp) rs727503384
NM_001354689.3(RAF1):c.293T>C (p.Val98Ala) rs763559779
NM_001354689.3(RAF1):c.31A>T (p.Ile11Phe) rs779001930
NM_001354689.3(RAF1):c.321-14T>A rs3730270
NM_001354689.3(RAF1):c.321-21dup rs202103447
NM_001354689.3(RAF1):c.325_327del (p.Lys109del) rs1418886913
NM_001354689.3(RAF1):c.445C>T (p.Leu149Phe) rs1559433480
NM_001354689.3(RAF1):c.452T>C (p.Phe151Ser) rs587782971
NM_001354689.3(RAF1):c.462C>G (p.Ile154Met) rs367732360
NM_001354689.3(RAF1):c.505G>C (p.Gly169Arg) rs886039607
NM_001354689.3(RAF1):c.524A>G (p.His175Arg) rs397516822
NM_001354689.3(RAF1):c.600T>C (p.Thr200=) rs779808613
NM_001354689.3(RAF1):c.601A>G (p.Ile201Val) rs757700986
NM_001354689.3(RAF1):c.61G>A (p.Val21Met)
NM_001354689.3(RAF1):c.654A>G (p.Arg218=)
NM_001354689.3(RAF1):c.659_660del (p.Ser220fs) rs1575577384
NM_001354689.3(RAF1):c.680+6T>C rs371846795
NM_001354689.3(RAF1):c.766A>G (p.Arg256Gly) rs397516825
NM_001354689.3(RAF1):c.767G>C (p.Arg256Thr)
NM_001354689.3(RAF1):c.768G>C (p.Arg256Ser) rs397516826
NM_001354689.3(RAF1):c.768G>T (p.Arg256Ser) rs397516826
NM_001354689.3(RAF1):c.769T>C (p.Ser257Pro) rs727505017
NM_001354689.3(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_001354689.3(RAF1):c.775T>A (p.Ser259Thr) rs3730271
NM_001354689.3(RAF1):c.775T>C (p.Ser259Pro) rs3730271
NM_001354689.3(RAF1):c.775_778delinsAGGG (p.Ser259_Thr260delinsArgAla)
NM_001354689.3(RAF1):c.776C>A (p.Ser259Tyr) rs397516827
NM_001354689.3(RAF1):c.776C>G (p.Ser259Cys) rs397516827
NM_001354689.3(RAF1):c.776C>T (p.Ser259Phe) rs397516827
NM_001354689.3(RAF1):c.779C>A (p.Thr260Lys) rs869025501
NM_001354689.3(RAF1):c.781C>A (p.Pro261Thr) rs121434594
NM_001354689.3(RAF1):c.781C>G (p.Pro261Ala) rs121434594
NM_001354689.3(RAF1):c.781C>T (p.Pro261Ser) rs121434594
NM_001354689.3(RAF1):c.782C>G (p.Pro261Arg) rs397516828
NM_001354689.3(RAF1):c.782C>T (p.Pro261Leu) rs397516828
NM_001354689.3(RAF1):c.784A>C (p.Asn262His)
NM_001354689.3(RAF1):c.786T>A (p.Asn262Lys) rs397516829
NM_001354689.3(RAF1):c.788T>A (p.Val263Asp) rs397516830
NM_001354689.3(RAF1):c.788T>C (p.Val263Ala) rs397516830
NM_001354689.3(RAF1):c.788T>G (p.Val263Gly) rs397516830
NM_001354689.3(RAF1):c.903T>A (p.Ile301=)
NM_001354689.3(RAF1):c.913A>G (p.Ser305Gly) rs150054973
NM_001354689.3(RAF1):c.969A>C (p.Thr323=) rs5746219
NM_001354689.3(RAF1):c.977C>T (p.Ser326Leu) rs886041231
NM_001354689.3(RAF1):c.983C>T (p.Pro328Leu) rs5746220
NM_001354689.3(RAF1):c.993C>T (p.Pro331=) rs1553613022
NM_001354689.3(RAF1):c.994G>A (p.Val332Met) rs555034652
NM_001360.2(DHCR7):c.*119G>A rs151230950
NM_001360.2(DHCR7):c.*161_*172del rs141483210
NM_001360.2(DHCR7):c.*25G>A rs778207094
NM_001360.2(DHCR7):c.*261G>A rs886048617
NM_001360.2(DHCR7):c.*324C>T rs759058043
NM_001360.2(DHCR7):c.*417C>T rs537429160
NM_001360.2(DHCR7):c.*424G>A rs886048616
NM_001360.2(DHCR7):c.*438G>A rs886048615
NM_001360.2(DHCR7):c.*451A>G rs11233662
NM_001360.2(DHCR7):c.*480C>T rs1790345
NM_001360.2(DHCR7):c.*643C>T rs1044535
NM_001360.2(DHCR7):c.*644G>A rs886048614
NM_001360.2(DHCR7):c.*681T>C rs886048613
NM_001360.2(DHCR7):c.*700G>A rs886048612
NM_001360.2(DHCR7):c.*734A>G rs7690
NM_001360.2(DHCR7):c.*761A>T rs886048611
NM_001360.2(DHCR7):c.*765G>A rs777137931
NM_001360.2(DHCR7):c.*779T>C rs541282653
NM_001360.2(DHCR7):c.*790C>T rs12407
NM_001360.2(DHCR7):c.-132+3G>A rs886048618
NM_001360.2(DHCR7):c.-192C>T rs886048619
NM_001360.2(DHCR7):c.-209G>A rs886048620
NM_001360.2(DHCR7):c.-225C>G rs4944946
NM_001360.2(DHCR7):c.-225C>T rs4944946
NM_001360.2(DHCR7):c.-23T>C rs12573951
NM_001360.2(DHCR7):c.-34T>G rs145915789
NM_001360.2(DHCR7):c.-35C>T rs75974711
NM_001360.2(DHCR7):c.-6-4G>A rs183610891
NM_001360.2(DHCR7):c.1004del (p.Pro335fs) rs1555145646
NM_001360.2(DHCR7):c.1008C>T (p.His336=) rs75225632
NM_001360.2(DHCR7):c.1010_1018del (p.Ala337_Gly339del) rs1555145633
NM_001360.2(DHCR7):c.1011C>T (p.Ala337=) rs369382960
NM_001360.2(DHCR7):c.1018G>A (p.Val340Ile) rs148081697
NM_001360.2(DHCR7):c.1022T>C (p.Leu341Pro) rs1317526744
NM_001360.2(DHCR7):c.1025T>C (p.Leu342Pro) rs199957106
NM_001360.2(DHCR7):c.1054C>T (p.Arg352Trp) rs80338860
NM_001360.2(DHCR7):c.1055G>A (p.Arg352Gln) rs121909768
NM_001360.2(DHCR7):c.1057del (p.Val353fs) rs759720450
NM_001360.2(DHCR7):c.1066del (p.His356fs) rs774291653
NM_001360.2(DHCR7):c.1079T>C (p.Leu360Pro) rs1555145619
NM_001360.2(DHCR7):c.1080_1081del (p.Phe361fs) rs1057516517
NM_001360.2(DHCR7):c.1083C>A (p.Phe361Leu) rs780088227
NM_001360.2(DHCR7):c.1091C>T (p.Thr364Met) rs567600444
NM_001360.2(DHCR7):c.1092G>A (p.Thr364=) rs35946774
NM_001360.2(DHCR7):c.1097G>T (p.Gly366Val) rs1555145614
NM_001360.2(DHCR7):c.111G>A (p.Trp37Ter) rs750345068
NM_001360.2(DHCR7):c.1134C>T (p.Ile378=) rs773505265
NM_001360.2(DHCR7):c.1138T>C (p.Cys380Arg) rs373306653
NM_001360.2(DHCR7):c.1139G>A (p.Cys380Tyr) rs779709646
NM_001360.2(DHCR7):c.1146C>A (p.Tyr382Ter) rs1555145605
NM_001360.2(DHCR7):c.1152C>T (p.Ser384=) rs145084285
NM_001360.2(DHCR7):c.1155C>T (p.Ala385=) rs777517985
NM_001360.2(DHCR7):c.1158T>C (p.Asp386=) rs760241
NM_001360.2(DHCR7):c.1190C>T (p.Ser397Leu) rs773134475
NM_001360.2(DHCR7):c.1199G>A (p.Trp400Ter) rs1057516493
NM_001360.2(DHCR7):c.1210C>A (p.Arg404Ser) rs61757582
NM_001360.2(DHCR7):c.1210C>G (p.Arg404Gly) rs61757582
NM_001360.2(DHCR7):c.1210C>T (p.Arg404Cys) rs61757582
NM_001360.2(DHCR7):c.1222T>C (p.Tyr408His) rs1046560765
NM_001360.2(DHCR7):c.1228G>A (p.Gly410Ser) rs80338862
NM_001360.2(DHCR7):c.122C>T (p.Ala41Val) rs761265690
NM_001360.2(DHCR7):c.1231G>A (p.Asp411Asn) rs372055524
NM_001360.2(DHCR7):c.123G>A (p.Ala41=) rs376263149
NM_001360.2(DHCR7):c.1267G>A (p.Gly423Ser) rs902179640
NM_001360.2(DHCR7):c.126C>T (p.Ser42=) rs150928869
NM_001360.2(DHCR7):c.1272C>T (p.Gly424=) rs909217
NM_001360.2(DHCR7):c.1273G>A (p.Gly425Ser) rs760242
NM_001360.2(DHCR7):c.1277A>C (p.His426Pro) rs1354718634
NM_001360.2(DHCR7):c.131T>C (p.Ile44Thr) rs142897396
NM_001360.2(DHCR7):c.1327C>T (p.Arg443Cys) rs535561852
NM_001360.2(DHCR7):c.1336C>T (p.Arg446Trp) rs145043679
NM_001360.2(DHCR7):c.1337G>A (p.Arg446Gln) rs751604696
NM_001360.2(DHCR7):c.1342G>A (p.Glu448Lys) rs80338864
NM_001360.2(DHCR7):c.1342G>C (p.Glu448Gln) rs80338864
NM_001360.2(DHCR7):c.1348del (p.Arg450fs) rs886042362
NM_001360.2(DHCR7):c.1349G>A (p.Arg450His) rs542266962
NM_001360.2(DHCR7):c.1349_1350delinsTG (p.Arg450Leu) rs1591107040
NM_001360.2(DHCR7):c.1362G>A (p.Lys454=) rs147850435
NM_001360.2(DHCR7):c.1365C>T (p.Tyr455=) rs557097410
NM_001360.2(DHCR7):c.1368C>T (p.Gly456=) rs144562471
NM_001360.2(DHCR7):c.1370G>A (p.Arg457Gln) rs886043122
NM_001360.2(DHCR7):c.1376G>A (p.Trp459Ter) rs1555145550
NM_001360.2(DHCR7):c.1381C>T (p.Arg461Cys) rs199506852
NM_001360.2(DHCR7):c.1384T>C (p.Tyr462His) rs201270451
NM_001360.2(DHCR7):c.1386C>A (p.Tyr462Ter) rs1453500228
NM_001360.2(DHCR7):c.1389C>T (p.Thr463=) rs200477386
NM_001360.2(DHCR7):c.1396G>A (p.Val466Met) rs760428437
NM_001360.2(DHCR7):c.139C>T (p.Leu47=) rs140721259
NM_001360.2(DHCR7):c.1405C>T (p.Arg469Cys) rs148660993
NM_001360.2(DHCR7):c.1406G>A (p.Arg469His) rs201150384
NM_001360.2(DHCR7):c.1406G>C (p.Arg469Pro) rs201150384
NM_001360.2(DHCR7):c.1409T>A (p.Leu470Gln) rs1331331095
NM_001360.2(DHCR7):c.1410G>A (p.Leu470=) rs375993195
NM_001360.2(DHCR7):c.1426T>A (p.Ter476Lys) rs775034584
NM_001360.2(DHCR7):c.1426T>C (p.Ter476Gln) rs775034584
NM_001360.2(DHCR7):c.14C>T (p.Ser5Leu) rs1127869
NM_001360.2(DHCR7):c.151C>T (p.Pro51Ser) rs104886035
NM_001360.2(DHCR7):c.159C>T (p.Ile53=) rs752952700
NM_001360.2(DHCR7):c.15G>A (p.Ser5=) rs147038941
NM_001360.2(DHCR7):c.160G>A (p.Val54Ile) rs779222334
NM_001360.2(DHCR7):c.16C>T (p.Gln6Ter) rs1057516977
NM_001360.2(DHCR7):c.189G>A (p.Gln63=) rs1044482
NM_001360.2(DHCR7):c.198C>T (p.Cys66=) rs775127532
NM_001360.2(DHCR7):c.199G>A (p.Ala67Thr) rs143999854
NM_001360.2(DHCR7):c.1A>C (p.Met1Leu) rs104886033
NM_001360.2(DHCR7):c.207T>C (p.Thr69=) rs1790334
NM_001360.2(DHCR7):c.223A>T (p.Ile75Phe) rs370748173
NM_001360.2(DHCR7):c.226G>A (p.Val76Ile) rs368473756
NM_001360.2(DHCR7):c.231C>T (p.Thr77=) rs4316537
NM_001360.2(DHCR7):c.232G>A (p.Gly78Arg) rs373352413
NM_001360.2(DHCR7):c.241C>T (p.Arg81Trp) rs775735710
NM_001360.2(DHCR7):c.25A>T (p.Ile9Phe) rs115595829
NM_001360.2(DHCR7):c.288C>T (p.Ala96=) rs745595242
NM_001360.2(DHCR7):c.292C>T (p.Gln98Ter) rs104886039
NM_001360.2(DHCR7):c.318C>T (p.Phe106=) rs1386646132
NM_001360.2(DHCR7):c.321+10C>T rs377108406
NM_001360.2(DHCR7):c.321+34C>A rs76865413
NM_001360.2(DHCR7):c.322-2A>G rs1555146618
NM_001360.2(DHCR7):c.326T>C (p.Leu109Pro) rs121912195
NM_001360.2(DHCR7):c.356A>G (p.His119Arg) rs28938174
NM_001360.2(DHCR7):c.356A>T (p.His119Leu) rs28938174
NM_001360.2(DHCR7):c.375C>T (p.Tyr125=) rs779401555
NM_001360.2(DHCR7):c.376G>A (p.Val126Ile) rs143587828
NM_001360.2(DHCR7):c.385_412+5del rs746482788
NM_001360.2(DHCR7):c.397G>A (p.Ala133Thr) rs763333510
NM_001360.2(DHCR7):c.399C>T (p.Ala133=) rs147424205
NM_001360.2(DHCR7):c.3G>A (p.Met1Ile) rs121909767
NM_001360.2(DHCR7):c.400G>T (p.Val134Leu) rs201466849
NM_001360.2(DHCR7):c.412+3A>G rs786200926
NM_001360.2(DHCR7):c.412+3A>T rs786200926
NM_001360.2(DHCR7):c.413-1G>A rs1057517307
NM_001360.2(DHCR7):c.413-2A>G rs775575609
NM_001360.2(DHCR7):c.433A>C (p.Ile145Leu) rs1555146475
NM_001360.2(DHCR7):c.438T>C (p.Asn146=) rs949177
NM_001360.2(DHCR7):c.438T>G (p.Asn146Lys) rs949177
NM_001360.2(DHCR7):c.440G>A (p.Gly147Asp) rs777425801
NM_001360.2(DHCR7):c.453G>A (p.Trp151Ter) rs104894213
NM_001360.2(DHCR7):c.461C>G (p.Thr154Arg) rs143312232
NM_001360.2(DHCR7):c.461C>T (p.Thr154Met) rs143312232
NM_001360.2(DHCR7):c.470T>C (p.Leu157Pro) rs753960624
NM_001360.2(DHCR7):c.485C>T (p.Ala162Val) rs398123606
NM_001360.2(DHCR7):c.506C>T (p.Ser169Leu) rs80338855
NM_001360.2(DHCR7):c.521T>C (p.Phe174Ser) rs769218623
NM_001360.2(DHCR7):c.522C>T (p.Phe174=) rs140648594
NM_001360.2(DHCR7):c.523G>A (p.Asp175Asn) rs368269558
NM_001360.2(DHCR7):c.532A>T (p.Ile178Phe) rs1223603615
NM_001360.2(DHCR7):c.536C>T (p.Pro179Leu) rs1555146436
NM_001360.2(DHCR7):c.546G>A (p.Trp182Ter) rs1032242817
NM_001360.2(DHCR7):c.549C>T (p.Cys183=) rs115446684
NM_001360.2(DHCR7):c.570C>T (p.Ala190=) rs74909468
NM_001360.2(DHCR7):c.582C>T (p.Phe194=) rs150603941
NM_001360.2(DHCR7):c.615C>T (p.Ser205=) rs561379509
NM_001360.2(DHCR7):c.626+15G>A rs736894
NM_001360.2(DHCR7):c.626+1G>C rs1471145742
NM_001360.2(DHCR7):c.626+1G>T rs1471145742
NM_001360.2(DHCR7):c.627-1G>A rs1057517210
NM_001360.2(DHCR7):c.627-29T>G rs74742701
NM_001360.2(DHCR7):c.638G>A (p.Gly213Asp) rs769583377
NM_001360.2(DHCR7):c.651C>A (p.Tyr217Ter) rs749076525
NM_001360.2(DHCR7):c.655T>G (p.Tyr219Asp) rs779896782
NM_001360.2(DHCR7):c.670G>A (p.Glu224Lys) rs373121544
NM_001360.2(DHCR7):c.682C>T (p.Arg228Trp) rs775773057
NM_001360.2(DHCR7):c.69C>T (p.Thr23=) rs199798127
NM_001360.2(DHCR7):c.704T>C (p.Phe235Ser) rs1555146061
NM_001360.2(DHCR7):c.709C>T (p.Leu237=) rs755941916
NM_001360.2(DHCR7):c.70G>T (p.Ala24Ser) rs146867923
NM_001360.2(DHCR7):c.719A>G (p.Asn240Ser) rs148609143
NM_001360.2(DHCR7):c.723G>T (p.Gly241=) rs369654651
NM_001360.2(DHCR7):c.728C>G (p.Pro243Arg) rs777248132
NM_001360.2(DHCR7):c.729C>T (p.Pro243=) rs145284180
NM_001360.2(DHCR7):c.730G>A (p.Gly244Arg) rs121909764
NM_001360.2(DHCR7):c.740C>T (p.Ala247Val) rs886041354
NM_001360.2(DHCR7):c.742T>C (p.Trp248Arg) rs886044494
NM_001360.2(DHCR7):c.744G>T (p.Trp248Cys) rs104894212
NM_001360.2(DHCR7):c.770C>T (p.Ala257Val) rs770925697
NM_001360.2(DHCR7):c.771G>A (p.Ala257=) rs200232012
NM_001360.2(DHCR7):c.795T>C (p.His265=) rs1472363309
NM_001360.2(DHCR7):c.803del (p.Asn268fs) rs1555146023
NM_001360.2(DHCR7):c.804del (p.Asn268fs) rs1057516783
NM_001360.2(DHCR7):c.808A>G (p.Met270Val) rs1555146021
NM_001360.2(DHCR7):c.82C>T (p.Gln28Ter) rs756564881
NM_001360.2(DHCR7):c.831+2T>A rs1057516920
NM_001360.2(DHCR7):c.832-1G>C rs80338863
NM_001360.2(DHCR7):c.839A>G (p.Tyr280Cys) rs121909766
NM_001360.2(DHCR7):c.840C>T (p.Tyr280=) rs148468879
NM_001360.2(DHCR7):c.841G>A (p.Val281Met) rs398123607
NM_001360.2(DHCR7):c.852C>A (p.Phe284Leu) rs184297154
NM_001360.2(DHCR7):c.855C>T (p.Phe285=) rs781026169
NM_001360.2(DHCR7):c.858G>A (p.Trp286Ter) rs1555145877
NM_001360.2(DHCR7):c.861C>A (p.Asn287Lys) rs766495775
NM_001360.2(DHCR7):c.862G>A (p.Glu288Lys) rs565893436
NM_001360.2(DHCR7):c.866C>T (p.Thr289Ile) rs121909765
NM_001360.2(DHCR7):c.870G>A (p.Trp290Ter) rs774187452
NM_001360.2(DHCR7):c.874del (p.Tyr291_Leu292insTer) rs1555145874
NM_001360.2(DHCR7):c.882C>T (p.Thr294=) rs748858240
NM_001360.2(DHCR7):c.894C>A (p.Cys298Ter) rs769639753
NM_001360.2(DHCR7):c.902A>G (p.His301Arg) rs1565586067
NM_001360.2(DHCR7):c.906C>G (p.Phe302Leu) rs80338858
NM_001360.2(DHCR7):c.906C>T (p.Phe302=) rs80338858
NM_001360.2(DHCR7):c.907G>A (p.Gly303Arg) rs142808899
NM_001360.2(DHCR7):c.907G>T (p.Gly303Trp) rs142808899
NM_001360.2(DHCR7):c.915C>G (p.Tyr305Ter) rs1555145867
NM_001360.2(DHCR7):c.91C>T (p.Arg31Cys) rs367585401
NM_001360.2(DHCR7):c.927C>A (p.Gly309=) rs149974099
NM_001360.2(DHCR7):c.939G>A (p.Trp313Ter) rs1555145862
NM_001360.2(DHCR7):c.952del (p.Tyr318fs) rs1555145859
NM_001360.2(DHCR7):c.955A>G (p.Thr319Ala) rs1362583959
NM_001360.2(DHCR7):c.956C>T (p.Thr319Met) rs766583874
NM_001360.2(DHCR7):c.957G>A (p.Thr319=) rs200157761
NM_001360.2(DHCR7):c.963+1G>T rs1057516973
NM_001360.2(DHCR7):c.963+2T>G rs1057517070
NM_001360.2(DHCR7):c.970T>C (p.Tyr324His) rs1173707321
NM_001360.2(DHCR7):c.976G>T (p.Val326Leu) rs80338859
NM_001360.2(DHCR7):c.981C>A (p.Tyr327Ter) rs1057516375
NM_001360.2(DHCR7):c.987C>T (p.Pro329=) rs145901607
NM_001360.2(DHCR7):c.988G>A (p.Val330Met) rs139724817
NM_001360.2(DHCR7):c.99-1G>C rs1451108193
NM_001360.2(DHCR7):c.99-4G>A rs140748737
NM_001360.2(DHCR7):c.99-5C>T rs372886043
NM_001360.2(DHCR7):c.991C>T (p.Gln331Ter) rs1057516610
NM_001360.2(DHCR7):c.995del (p.Leu332fs) rs1057516618
NM_001360.3(DHCR7):c.*101C>G
NM_001360.3(DHCR7):c.*192C>T
NM_001360.3(DHCR7):c.*20G>T
NM_001360.3(DHCR7):c.*226C>T
NM_001360.3(DHCR7):c.*28G>T
NM_001360.3(DHCR7):c.*358C>T
NM_001360.3(DHCR7):c.*4C>T
NM_001360.3(DHCR7):c.*565G>A
NM_001360.3(DHCR7):c.*57C>T
NM_001360.3(DHCR7):c.*63G>T
NM_001360.3(DHCR7):c.*723C>A
NM_001360.3(DHCR7):c.*755C>T
NM_001360.3(DHCR7):c.*85C>T
NM_001360.3(DHCR7):c.-145C>G
NM_001360.3(DHCR7):c.-146C>T
NM_001360.3(DHCR7):c.-195G>T rs141057811
NM_001360.3(DHCR7):c.1002C>A (p.Thr334=)
NM_001360.3(DHCR7):c.1017C>T (p.Gly339=) rs774757811
NM_001360.3(DHCR7):c.1020C>T (p.Val340=)
NM_001360.3(DHCR7):c.1031G>A (p.Gly344Asp)
NM_001360.3(DHCR7):c.1048A>G (p.Ile350Val)
NM_001360.3(DHCR7):c.1056G>T (p.Arg352=)
NM_001360.3(DHCR7):c.1076_1077dup (p.Leu360fs) rs1318653026
NM_001360.3(DHCR7):c.1084C>G (p.Arg362Gly)
NM_001360.3(DHCR7):c.1086C>T (p.Arg362=)
NM_001360.3(DHCR7):c.1088G>A (p.Arg363His)
NM_001360.3(DHCR7):c.1112G>A (p.Trp371Ter) rs1591107421
NM_001360.3(DHCR7):c.1146C>T (p.Tyr382=)
NM_001360.3(DHCR7):c.1156G>A (p.Asp386Asn)
NM_001360.3(DHCR7):c.116C>G (p.Ser39Ter)
NM_001360.3(DHCR7):c.1188G>A (p.Val396=)
NM_001360.3(DHCR7):c.1191G>C (p.Ser397=)
NM_001360.3(DHCR7):c.1209C>T (p.Ala403=) rs1321822921
NM_001360.3(DHCR7):c.1218C>G (p.Phe406Leu)
NM_001360.3(DHCR7):c.1219A>T (p.Asn407Tyr) rs770819693
NM_001360.3(DHCR7):c.1221C>A (p.Asn407Lys)
NM_001360.3(DHCR7):c.1224C>T (p.Tyr408=)
NM_001360.3(DHCR7):c.1227C>T (p.Val409=) rs1012396683
NM_001360.3(DHCR7):c.1234C>T (p.Leu412=) rs1591107212
NM_001360.3(DHCR7):c.1269C>A (p.Gly423=)
NM_001360.3(DHCR7):c.1269C>T (p.Gly423=) rs145374203
NM_001360.3(DHCR7):c.1287C>T (p.Pro429=)
NM_001360.3(DHCR7):c.1290C>G (p.Tyr430Ter) rs140791666
NM_001360.3(DHCR7):c.1290C>T (p.Tyr430=)
NM_001360.3(DHCR7):c.1295A>G (p.Tyr432Cys)
NM_001360.3(DHCR7):c.1295A>T (p.Tyr432Phe)
NM_001360.3(DHCR7):c.1299C>T (p.Ile433=)
NM_001360.3(DHCR7):c.1314C>T (p.Ile438=) rs778750039
NM_001360.3(DHCR7):c.1315C>T (p.Leu439=)
NM_001360.3(DHCR7):c.1324C>G (p.His442Asp)
NM_001360.3(DHCR7):c.1325A>G (p.His442Arg)
NM_001360.3(DHCR7):c.1328G>C (p.Arg443Pro)
NM_001360.3(DHCR7):c.1328G>T (p.Arg443Leu)
NM_001360.3(DHCR7):c.1334_1336dup (p.Leu445dup)
NM_001360.3(DHCR7):c.1337G>C (p.Arg446Pro)
NM_001360.3(DHCR7):c.1342_1344delinsC (p.Glu448fs) rs1591107062
NM_001360.3(DHCR7):c.1353C>T (p.Cys451=) rs951313798
NM_001360.3(DHCR7):c.1364A>T (p.Tyr455Phe)
NM_001360.3(DHCR7):c.1392C>T (p.Ala464=)
NM_001360.3(DHCR7):c.1408C>T (p.Leu470=)
NM_001360.3(DHCR7):c.1416T>G (p.Pro472=)
NM_001360.3(DHCR7):c.147C>T (p.Phe49=) rs771419549
NM_001360.3(DHCR7):c.207_208inv (p.Gly70Ser)
NM_001360.3(DHCR7):c.208G>A (p.Gly70Ser) rs144512551
NM_001360.3(DHCR7):c.213T>C (p.Pro71=)
NM_001360.3(DHCR7):c.21C>G (p.Pro7=)
NM_001360.3(DHCR7):c.21C>T (p.Pro7=)
NM_001360.3(DHCR7):c.225C>T (p.Ile75=) rs755182484
NM_001360.3(DHCR7):c.231C>G (p.Thr77=)
NM_001360.3(DHCR7):c.237T>C (p.His79=)
NM_001360.3(DHCR7):c.239C>T (p.Ala80Val)
NM_001360.3(DHCR7):c.261C>A (p.Ala87=) rs1404109723
NM_001360.3(DHCR7):c.273T>A (p.Pro91=) rs772671149
NM_001360.3(DHCR7):c.273T>C (p.Pro91=)
NM_001360.3(DHCR7):c.279G>A (p.Thr93=)
NM_001360.3(DHCR7):c.282G>A (p.Arg94=) rs541593878
NM_001360.3(DHCR7):c.291C>T (p.Ala97=)
NM_001360.3(DHCR7):c.300T>A (p.Tyr100Ter)
NM_001360.3(DHCR7):c.303C>T (p.Thr101=) rs777709295
NM_001360.3(DHCR7):c.304T>C (p.Leu102=) rs1591113264
NM_001360.3(DHCR7):c.321+8G>T
NM_001360.3(DHCR7):c.321+8del
NM_001360.3(DHCR7):c.321+9C>T rs1591113228
NM_001360.3(DHCR7):c.321G>C (p.Gln107His) rs104886040
NM_001360.3(DHCR7):c.322-1G>A
NM_001360.3(DHCR7):c.322-7G>A rs1359774813
NM_001360.3(DHCR7):c.324G>A (p.Val108=)
NM_001360.3(DHCR7):c.336G>A (p.Thr112=) rs759750125
NM_001360.3(DHCR7):c.355del (p.His119fs) rs747827699
NM_001360.3(DHCR7):c.369C>G (p.Pro123=)
NM_001360.3(DHCR7):c.369C>T (p.Pro123=) rs373452254
NM_001360.3(DHCR7):c.36C>T (p.Ala12=)
NM_001360.3(DHCR7):c.374A>G (p.Tyr125Cys)
NM_001360.3(DHCR7):c.388C>T (p.Gln130Ter)
NM_001360.3(DHCR7):c.408T>G (p.Pro136=) rs772940271
NM_001360.3(DHCR7):c.418G>A (p.Val140Met)
NM_001360.3(DHCR7):c.442C>T (p.Leu148=)
NM_001360.3(DHCR7):c.44T>C (p.Leu15Pro)
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217
NM_001360.3(DHCR7):c.454C>T (p.Leu152Phe)
NM_001360.3(DHCR7):c.45A>G (p.Leu15=)
NM_001360.3(DHCR7):c.462G>T (p.Thr154=) rs1203189676
NM_001360.3(DHCR7):c.465C>T (p.His155=)
NM_001360.3(DHCR7):c.483C>T (p.Asn161=) rs750628746
NM_001360.3(DHCR7):c.484G>A (p.Ala162Thr)
NM_001360.3(DHCR7):c.492C>G (p.Leu164=)
NM_001360.3(DHCR7):c.492C>T (p.Leu164=)
NM_001360.3(DHCR7):c.501G>A (p.Trp167Ter)
NM_001360.3(DHCR7):c.507G>A (p.Ser169=)
NM_001360.3(DHCR7):c.513C>T (p.Thr171=) rs566499249
NM_001360.3(DHCR7):c.51C>T (p.Gly17=)
NM_001360.3(DHCR7):c.534C>T (p.Ile178=) rs1349721227
NM_001360.3(DHCR7):c.543G>C (p.Leu181=)
NM_001360.3(DHCR7):c.545G>A (p.Trp182Ter)
NM_001360.3(DHCR7):c.570C>G (p.Ala190=)
NM_001360.3(DHCR7):c.579C>G (p.Thr193=) rs778664009
NM_001360.3(DHCR7):c.585C>T (p.Ala195=)
NM_001360.3(DHCR7):c.586A>G (p.Met196Val)
NM_001360.3(DHCR7):c.600C>G (p.Tyr200Ter)
NM_001360.3(DHCR7):c.606C>T (p.Phe202=) rs1591111340
NM_001360.3(DHCR7):c.626+2dup rs1591111319
NM_001360.3(DHCR7):c.626+7T>A
NM_001360.3(DHCR7):c.627-4T>A
NM_001360.3(DHCR7):c.627-9A>G
NM_001360.3(DHCR7):c.627C>A (p.Cys209Ter)
NM_001360.3(DHCR7):c.634A>G (p.Thr212Ala)
NM_001360.3(DHCR7):c.654C>A (p.Asn218Lys)
NM_001360.3(DHCR7):c.662T>G (p.Met221Arg)
NM_001360.3(DHCR7):c.669C>T (p.Ile223=)
NM_001360.3(DHCR7):c.687C>G (p.Ile229Met)
NM_001360.3(DHCR7):c.690G>C (p.Gly230=) rs773393807
NM_001360.3(DHCR7):c.696G>A (p.Trp232Ter) rs1591109892
NM_001360.3(DHCR7):c.714C>T (p.Phe238=)
NM_001360.3(DHCR7):c.724C>T (p.Arg242Cys) rs80338856
NM_001360.3(DHCR7):c.726C>T (p.Arg242=)
NM_001360.3(DHCR7):c.735C>A (p.Ile245=)
NM_001360.3(DHCR7):c.735C>T (p.Ile245=) rs12800
NM_001360.3(DHCR7):c.736G>A (p.Val246Ile)
NM_001360.3(DHCR7):c.739G>A (p.Ala247Thr)
NM_001360.3(DHCR7):c.747C>G (p.Thr249=)
NM_001360.3(DHCR7):c.750C>G (p.Leu250=)
NM_001360.3(DHCR7):c.753C>T (p.Ile251=)
NM_001360.3(DHCR7):c.756C>T (p.Asn252=) rs774666247
NM_001360.3(DHCR7):c.765C>T (p.Phe255=) rs200132007
NM_001360.3(DHCR7):c.766G>T (p.Ala256Ser)
NM_001360.3(DHCR7):c.782A>G (p.Glu261Gly)
NM_001360.3(DHCR7):c.783G>A (p.Glu261=)
NM_001360.3(DHCR7):c.820_825del (p.Asn274_Val275del)
NM_001360.3(DHCR7):c.822C>T (p.Asn274=)
NM_001360.3(DHCR7):c.832-4G>A
NM_001360.3(DHCR7):c.832-4G>T
NM_001360.3(DHCR7):c.832-9G>A
NM_001360.3(DHCR7):c.837C>T (p.Ile279=)
NM_001360.3(DHCR7):c.861C>T (p.Asn287=)
NM_001360.3(DHCR7):c.879G>A (p.Lys293=)
NM_001360.3(DHCR7):c.882C>A (p.Thr294=)
NM_001360.3(DHCR7):c.888C>T (p.Asp296=)
NM_001360.3(DHCR7):c.891C>T (p.Ile297=)
NM_001360.3(DHCR7):c.89del (p.Gly30fs)
NM_001360.3(DHCR7):c.90C>T (p.Gly30=)
NM_001360.3(DHCR7):c.915C>T (p.Tyr305=)
NM_001360.3(DHCR7):c.934_935del (p.Val312fs) rs1469918162
NM_001360.3(DHCR7):c.939G>C (p.Trp313Cys)
NM_001360.3(DHCR7):c.944C>T (p.Pro315Leu)
NM_001360.3(DHCR7):c.952T>A (p.Tyr318Asn)
NM_001360.3(DHCR7):c.957G>T (p.Thr319=)
NM_001360.3(DHCR7):c.958C>T (p.Leu320=)
NM_001360.3(DHCR7):c.959T>C (p.Leu320Pro)
NM_001360.3(DHCR7):c.963+8G>A
NM_001360.3(DHCR7):c.963+9G>A
NM_001360.3(DHCR7):c.963+9G>T
NM_001360.3(DHCR7):c.964-10C>T
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001360.3(DHCR7):c.964-6C>T
NM_001360.3(DHCR7):c.964-8C>T
NM_001360.3(DHCR7):c.964-8dup
NM_001360.3(DHCR7):c.964-9G>A
NM_001360.3(DHCR7):c.98+10T>A
NM_001360.3(DHCR7):c.98+2_98+6del
NM_001360.3(DHCR7):c.98+9C>T
NM_001360.3(DHCR7):c.987C>G (p.Pro329=)
NM_001360.3(DHCR7):c.99-10G>A rs189549129
NM_001360.3(DHCR7):c.99-11C>T
NM_001360.3(DHCR7):c.99-16G>A
NM_001371623.1(TCOF1):c.1021_1022del (p.Ser341fs)
NM_001371623.1(TCOF1):c.109-3del
NM_001371623.1(TCOF1):c.1130C>T (p.Pro377Leu)
NM_001371623.1(TCOF1):c.117C>A (p.Phe39Leu)
NM_001371623.1(TCOF1):c.1204C>T (p.Gln402Ter)
NM_001371623.1(TCOF1):c.1217G>A (p.Arg406Gln) rs140204483
NM_001371623.1(TCOF1):c.1269G>A (p.Ala423=) rs72492454
NM_001371623.1(TCOF1):c.1328_1350del (p.Ala443fs)
NM_001371623.1(TCOF1):c.1330_1340del (p.Lys444fs)
NM_001371623.1(TCOF1):c.1361C>T (p.Ala454Val) rs375227693
NM_001371623.1(TCOF1):c.1389del (p.Ala464fs)
NM_001371623.1(TCOF1):c.1390G>A (p.Ala464Thr) rs150956690
NM_001371623.1(TCOF1):c.1425_1426del (p.Arg476fs)
NM_001371623.1(TCOF1):c.1504_1505insT (p.Lys502fs)
NM_001371623.1(TCOF1):c.1535T>C (p.Met512Thr)
NM_001371623.1(TCOF1):c.1545G>T (p.Gly515=) rs374664344
NM_001371623.1(TCOF1):c.1552G>A (p.Gly518Arg) rs201537012
NM_001371623.1(TCOF1):c.1560dup (p.Ala521fs) rs1581114957
NM_001371623.1(TCOF1):c.1563C>T (p.Ala521=)
NM_001371623.1(TCOF1):c.1578del (p.Lys528fs)
NM_001371623.1(TCOF1):c.1637_1640del (p.Glu546fs) rs587776583
NM_001371623.1(TCOF1):c.1639_1640del (p.Ser547fs) rs587776583
NM_001371623.1(TCOF1):c.1659dup (p.Asp554fs)
NM_001371623.1(TCOF1):c.1714T>C (p.Leu572=) rs111705180
NM_001371623.1(TCOF1):c.1723A>G (p.Ile575Val) rs35918007
NM_001371623.1(TCOF1):c.1845G>A (p.Ser615=) rs200075508
NM_001371623.1(TCOF1):c.1866_1873del (p.Glu622fs)
NM_001371623.1(TCOF1):c.2000G>C (p.Arg667Pro) rs146735293
NM_001371623.1(TCOF1):c.2103_2106del (p.Ser701fs)
NM_001371623.1(TCOF1):c.2142+1del
NM_001371623.1(TCOF1):c.2151T>A (p.Ser717=) rs141764046
NM_001371623.1(TCOF1):c.2248A>G (p.Thr750Ala) rs149384321
NM_001371623.1(TCOF1):c.2285_2286del (p.Asp761_Ser762insTer) rs1554137531
NM_001371623.1(TCOF1):c.2332C>T (p.Pro778Ser) rs368225177
NM_001371623.1(TCOF1):c.2353del (p.Ser784_Val785insTer) rs1581136492
NM_001371623.1(TCOF1):c.2361A>C (p.Lys787Asn)
NM_001371623.1(TCOF1):c.2384del (p.Ala795fs)
NM_001371623.1(TCOF1):c.2395G>T (p.Ala799Ser) rs373946807
NM_001371623.1(TCOF1):c.2464_2467dup (p.Ser823Ter)
NM_001371623.1(TCOF1):c.2490A>G (p.Pro830=)
NM_001371623.1(TCOF1):c.2515G>A (p.Val839Ile)
NM_001371623.1(TCOF1):c.25G>T (p.Glu9Ter)
NM_001371623.1(TCOF1):c.2659-18_2659-8del rs1581140872
NM_001371623.1(TCOF1):c.2709del (p.Lys904fs)
NM_001371623.1(TCOF1):c.3029C>T (p.Thr1010Ile)
NM_001371623.1(TCOF1):c.3046G>A (p.Gly1016Ser)
NM_001371623.1(TCOF1):c.3053G>T (p.Arg1018Ile) rs532465195
NM_001371623.1(TCOF1):c.3091del (p.Arg1030_Ile1031insTer)
NM_001371623.1(TCOF1):c.3301G>A (p.Asp1101Asn)
NM_001371623.1(TCOF1):c.3337_3338insCTCT (p.Gln1113fs)
NM_001371623.1(TCOF1):c.3352C>T (p.Gln1118Ter) rs1581203344
NM_001371623.1(TCOF1):c.3496dup (p.Ala1166fs)
NM_001371623.1(TCOF1):c.3593C>T (p.Ala1198Val)
NM_001371623.1(TCOF1):c.3625del (p.Thr1209fs) rs1581210464
NM_001371623.1(TCOF1):c.3698_3702del (p.Ser1233fs)
NM_001371623.1(TCOF1):c.3750C>T (p.Pro1250=)
NM_001371623.1(TCOF1):c.3784+1G>C
NM_001371623.1(TCOF1):c.3827G>A (p.Arg1276Gln)
NM_001371623.1(TCOF1):c.4064del (p.Pro1355fs) rs1581224630
NM_001371623.1(TCOF1):c.4070C>T (p.Ala1357Val)
NM_001371623.1(TCOF1):c.4087AAG[4] (p.Lys1367del) rs773205979
NM_001371623.1(TCOF1):c.4141G>T (p.Glu1381Ter)
NM_001371623.1(TCOF1):c.4210_4214del (p.Lys1404fs)
NM_001371623.1(TCOF1):c.4248C>T (p.Asp1416=) rs141159244
NM_001371623.1(TCOF1):c.42C>G (p.Ile14Met) rs1581000221
NM_001371623.1(TCOF1):c.4326GAA[2] (p.Lys1445del) rs574569798
NM_001371623.1(TCOF1):c.4342_4343del (p.Lys1448fs)
NM_001371623.1(TCOF1):c.4372_4376del (p.Lys1458fs) rs587776582
NM_001371623.1(TCOF1):c.4374GAA[1] (p.Lys1460_Lys1461del) rs151344581
NM_001371623.1(TCOF1):c.4374GAA[2] (p.Lys1461del) rs151344581
NM_001371623.1(TCOF1):c.4429A>T (p.Lys1477Ter)
NM_001371623.1(TCOF1):c.481G>T (p.Ala161Ser)
NM_001371623.1(TCOF1):c.520G>T (p.Glu174Ter)
NM_001371623.1(TCOF1):c.539C>T (p.Pro180Leu)
NM_001371623.1(TCOF1):c.600_620del (p.Glu201_Ser207del)
NM_001371623.1(TCOF1):c.630_631insCTG (p.Asp211_Val212insLeu) rs1581075276
NM_001371623.1(TCOF1):c.633_634del (p.Val212fs) rs1581075356
NM_001371623.1(TCOF1):c.651A>G (p.Ser217=) rs370179351
NM_001371623.1(TCOF1):c.866G>A (p.Ser289Asn) rs188279654
NM_001371623.1(TCOF1):c.89T>G (p.Val30Gly)
NM_001374258.1(BRAF):c.-12C>T
NM_001374258.1(BRAF):c.-19C>T rs71645935
NM_001374258.1(BRAF):c.-56C>T
NM_001374258.1(BRAF):c.101C>T (p.Ala34Val) rs1424449802
NM_001374258.1(BRAF):c.1056T>A (p.Asp352Glu)
NM_001374258.1(BRAF):c.1066C>G (p.Gln356Glu)
NM_001374258.1(BRAF):c.1068A>G (p.Gln356=) rs143335467
NM_001374258.1(BRAF):c.1300T>C (p.Ser434Pro)
NM_001374258.1(BRAF):c.1347A>G (p.Ser449=) rs145035762
NM_001374258.1(BRAF):c.1357G>A (p.Val453Met) rs377093637
NM_001374258.1(BRAF):c.1452G>A (p.Arg484=) rs56101602
NM_001374258.1(BRAF):c.1503A>G (p.Gln501=) rs56216404
NM_001374258.1(BRAF):c.1511G>A (p.Gly504Glu) rs121913348
NM_001374258.1(BRAF):c.1529C>G (p.Thr510Arg) rs397516891
NM_001374258.1(BRAF):c.1569A>C (p.Lys523Asn) rs727504375
NM_001374258.1(BRAF):c.1575G>C (p.Leu525Phe) rs180177036
NM_001374258.1(BRAF):c.1575G>T (p.Leu525Phe) rs180177036
NM_001374258.1(BRAF):c.1621G>A (p.Glu541Lys) rs180177038
NM_001374258.1(BRAF):c.1689A>G (p.Pro563=)
NM_001374258.1(BRAF):c.1712G>C (p.Trp571Ser) rs397507478
NM_001374258.1(BRAF):c.1814+14G>A rs184144181
NM_001374258.1(BRAF):c.1819T>G (p.Leu607Val)
NM_001374258.1(BRAF):c.1860T>C (p.Asn620=)
NM_001374258.1(BRAF):c.1863T>A (p.Asn621Lys) rs397516895
NM_001374258.1(BRAF):c.1907G>T (p.Gly636Val) rs397507483
NM_001374258.1(BRAF):c.1909C>G (p.Leu637Val) rs121913369
NM_001374258.1(BRAF):c.1921A>C (p.Lys641Gln) rs121913364
NM_001374258.1(BRAF):c.1922A>C (p.Lys641Thr) rs397507484
NM_001374258.1(BRAF):c.2034T>G (p.Asp678Glu) rs180177042
NM_001374258.1(BRAF):c.2049A>G (p.Gly683=) rs9648696
NM_001374258.1(BRAF):c.2063A>G (p.Glu688Gly)
NM_001374258.1(BRAF):c.2247+3A>G rs371976102
NM_001374258.1(BRAF):c.2248-5del rs373442098
NM_001374258.1(BRAF):c.2255C>A (p.Ala752Asp) rs727502904
NM_001374258.1(BRAF):c.2281T>G (p.Leu761Val)
NM_001374258.1(BRAF):c.2355A>G (p.Leu785=) rs56046546
NM_001374258.1(BRAF):c.2401+144G>C
NM_001374258.1(BRAF):c.2401+163A>G
NM_001374258.1(BRAF):c.2401+223A>G
NM_001374258.1(BRAF):c.2401+236T>C
NM_001374258.1(BRAF):c.2401+27T>C rs727502903
NM_001374258.1(BRAF):c.316G>A (p.Gly106Arg) rs749247588
NM_001374258.1(BRAF):c.375T>G (p.Ser125=) rs201507202
NM_001374258.1(BRAF):c.469G>A (p.Val157Ile) rs1258111302
NM_001374258.1(BRAF):c.563G>C (p.Arg188Thr)
NM_001374258.1(BRAF):c.64G>A (p.Asp22Asn) rs397507456
NM_001374258.1(BRAF):c.708C>T (p.Asn236=) rs138333692
NM_001374258.1(BRAF):c.721A>C (p.Thr241Pro) rs387906661
NM_001374258.1(BRAF):c.722C>A (p.Thr241Lys) rs387906660
NM_001374258.1(BRAF):c.722C>T (p.Thr241Met) rs387906660
NM_001374258.1(BRAF):c.735A>C (p.Leu245Phe) rs397507466
NM_001374258.1(BRAF):c.736G>C (p.Ala246Pro) rs180177034
NM_001374258.1(BRAF):c.739T>G (p.Phe247Val) rs397516903
NM_001374258.1(BRAF):c.769C>A (p.Gln257Lys) rs397507469
NM_001374258.1(BRAF):c.770A>G (p.Gln257Arg) rs180177035
NM_001374258.1(BRAF):c.785A>C (p.Gln262Pro) rs397516904
NM_001374258.1(BRAF):c.78G>T (p.Glu26Asp) rs371877084
NM_001374258.1(BRAF):c.793G>C (p.Gly265Arg) rs397516905
NM_001374258.1(BRAF):c.83GCGCCG[1] (p.28GA[1]) rs397507458
NM_001374258.1(BRAF):c.83GCGCCG[4] (p.28GA[4]) rs397507458
NM_001854.4(COL11A1):c.4048_4065del (p.Ser1350_Pro1355del) rs1553200431
NM_002524.4(NRAS):c.-132C>T rs886045109
NM_002524.4(NRAS):c.-179G>C rs886045110
NM_002524.4(NRAS):c.-208T>A rs2273267
NM_002524.4(NRAS):c.-209A>G rs886045111
NM_002524.4(NRAS):c.-242G>C rs886045112
NM_002524.4(NRAS):c.-245C>T rs886045113
NM_002524.5(NRAS):c.*1062_*1063del rs775070295
NM_002524.5(NRAS):c.*1105C>T
NM_002524.5(NRAS):c.*111A>G rs188272768
NM_002524.5(NRAS):c.*1382G>T rs886045105
NM_002524.5(NRAS):c.*1466A>T
NM_002524.5(NRAS):c.*1509A>G
NM_002524.5(NRAS):c.*1571A>G
NM_002524.5(NRAS):c.*1629C>G
NM_002524.5(NRAS):c.*1643G>C rs571329214
NM_002524.5(NRAS):c.*1656C>T rs886045104
NM_002524.5(NRAS):c.*1845T>C
NM_002524.5(NRAS):c.*1887T>C
NM_002524.5(NRAS):c.*1914A>G
NM_002524.5(NRAS):c.*1936C>G
NM_002524.5(NRAS):c.*1974T>C
NM_002524.5(NRAS):c.*2178G>A rs886045103
NM_002524.5(NRAS):c.*2188C>A
NM_002524.5(NRAS):c.*2226G>C
NM_002524.5(NRAS):c.*2327C>T rs533027827
NM_002524.5(NRAS):c.*2328G>A
NM_002524.5(NRAS):c.*2412G>A
NM_002524.5(NRAS):c.*2464A>G rs140878667
NM_002524.5(NRAS):c.*2510_*2515del rs549171175
NM_002524.5(NRAS):c.*2513T>A rs150969241
NM_002524.5(NRAS):c.*2517A>G
NM_002524.5(NRAS):c.*2523A>G
NM_002524.5(NRAS):c.*2546C>T rs778203603
NM_002524.5(NRAS):c.*2589G>A
NM_002524.5(NRAS):c.*2618A>G
NM_002524.5(NRAS):c.*2630G>A rs886045102
NM_002524.5(NRAS):c.*2662G>A rs148827219
NM_002524.5(NRAS):c.*2667T>C rs145382662
NM_002524.5(NRAS):c.*2677A>T rs886045101
NM_002524.5(NRAS):c.*2714G>T rs886045100
NM_002524.5(NRAS):c.*2767C>T
NM_002524.5(NRAS):c.*2784T>A rs374889066
NM_002524.5(NRAS):c.*2805T>C rs776606789
NM_002524.5(NRAS):c.*2811C>A
NM_002524.5(NRAS):c.*2816T>C
NM_002524.5(NRAS):c.*2844T>A rs530053161
NM_002524.5(NRAS):c.*2860G>A rs886045099
NM_002524.5(NRAS):c.*2965del rs61652108
NM_002524.5(NRAS):c.*3020A>G
NM_002524.5(NRAS):c.*3062C>T rs886045098
NM_002524.5(NRAS):c.*3103G>T
NM_002524.5(NRAS):c.*3219C>G rs72994441
NM_002524.5(NRAS):c.*3306A>G
NM_002524.5(NRAS):c.*3341A>T
NM_002524.5(NRAS):c.*3362T>C
NM_002524.5(NRAS):c.*3366G>T rs72994440
NM_002524.5(NRAS):c.*3384C>T rs140049110
NM_002524.5(NRAS):c.*3392T>C rs886045097
NM_002524.5(NRAS):c.*3404T>C rs185234485
NM_002524.5(NRAS):c.*340G>A
NM_002524.5(NRAS):c.*3430T>A
NM_002524.5(NRAS):c.*344A>G rs746680042
NM_002524.5(NRAS):c.*346G>A rs9724642
NM_002524.5(NRAS):c.*3499C>T rs147926293
NM_002524.5(NRAS):c.*3500G>A
NM_002524.5(NRAS):c.*416A>C rs9724643
NM_002524.5(NRAS):c.*536C>T rs886045108
NM_002524.5(NRAS):c.*583T>G rs555171083
NM_002524.5(NRAS):c.*651C>T
NM_002524.5(NRAS):c.*687A>G
NM_002524.5(NRAS):c.*740G>A rs372008962
NM_002524.5(NRAS):c.*774A>G rs886045107
NM_002524.5(NRAS):c.*872C>T rs14804
NM_002524.5(NRAS):c.*935dup rs886045106
NM_002524.5(NRAS):c.-106G>T rs755583487
NM_002524.5(NRAS):c.-50A>G rs61758211
NM_002524.5(NRAS):c.101C>T (p.Pro34Leu) rs397514553
NM_002524.5(NRAS):c.112-6C>G
NM_002524.5(NRAS):c.112-8A>G rs9724626
NM_002524.5(NRAS):c.149C>T (p.Thr50Ile) rs267606921
NM_002524.5(NRAS):c.176C>A (p.Ala59Asp) rs1570874751
NM_002524.5(NRAS):c.179G>A (p.Gly60Glu) rs267606920
NM_002524.5(NRAS):c.204A>T (p.Arg68Ser)
NM_002524.5(NRAS):c.225C>T (p.Gly75=) rs142739534
NM_002524.5(NRAS):c.235C>T (p.Leu79Phe)
NM_002524.5(NRAS):c.250A>G (p.Ile84Val) rs376177995
NM_002524.5(NRAS):c.317C>T (p.Ser106Leu) rs797045795
NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) rs121913250
NM_002524.5(NRAS):c.35G>T (p.Gly12Val) rs121913237
NM_002524.5(NRAS):c.360G>A (p.Leu120=) rs143020946
NM_002524.5(NRAS):c.36T>G (p.Gly12=) rs759764705
NM_002524.5(NRAS):c.380C>G (p.Thr127Arg) rs779899354
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) rs121434596
NM_002524.5(NRAS):c.443C>T (p.Thr148Ile)
NM_002524.5(NRAS):c.457G>A (p.Glu153Lys)
NM_002524.5(NRAS):c.553C>T (p.Pro185Ser) rs374061873
NM_002524.5(NRAS):c.71T>A (p.Ile24Asn) rs869025573
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg) rs886037952
NM_002709.3(PPP1CB):c.31C>G (p.Leu11Val)
NM_002709.3(PPP1CB):c.544A>G (p.Met182Val)
NM_002709.3(PPP1CB):c.545T>A (p.Met182Lys)
NM_002745.5(MAPK1):c.221T>A (p.Ile74Asn)
NM_002745.5(MAPK1):c.521C>T (p.Ala174Val)
NM_002745.5(MAPK1):c.952G>A (p.Asp318Asn)
NM_002745.5(MAPK1):c.953A>G (p.Asp318Gly)
NM_002755.3(MAP2K1):c.-216_-215dupCG rs141005341
NM_002755.3(MAP2K1):c.323G>T (p.Arg108Leu) rs727504819
NM_002755.3(MAP2K1):c.370C>T (p.Pro124Ser) rs1057519732
NM_002755.3(MAP2K1):c.608A>G rs727503996
NM_002755.3(MAP2K1):c.694-12TC[4] rs113913469
NM_002755.3(MAP2K1):c.961C>T (p.Pro321Ser) rs771613524
NM_002755.4(MAP2K1):c.1068+12_1068+15del rs397516788
NM_002755.4(MAP2K1):c.1072C>T (p.His358Tyr) rs1595889532
NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn) rs727504317
NM_002755.4(MAP2K1):c.308T>C (p.Ile103Thr)
NM_002755.4(MAP2K1):c.322C>T (p.Arg108Trp) rs1298033161
NM_002755.4(MAP2K1):c.364A>G (p.Asn122Asp) rs876657651
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_002755.4(MAP2K1):c.577C>G (p.Pro193Ala) rs1595884713
NM_002755.4(MAP2K1):c.608A>C (p.Glu203Ala)
NM_002755.4(MAP2K1):c.872G>A (p.Arg291Lys) rs1595886354
NM_002834.3(PTPN11):c.179_181delGTG (p.Gly60del) rs80338836
NM_002834.3:c.1-140delG
NM_002834.4(PTPN11):c.*1006del rs146940557
NM_002834.4(PTPN11):c.*1015C>G rs538946251
NM_002834.4(PTPN11):c.*1035A>G rs886048970
NM_002834.4(PTPN11):c.*1157_*1159ATG[13] rs80269561
NM_002834.4(PTPN11):c.*1157_*1159ATG[14] rs80269561
NM_002834.4(PTPN11):c.*1157_*1159ATG[16] rs80269561
NM_002834.4(PTPN11):c.*1157_*1159ATG[17] rs80269561
NM_002834.4(PTPN11):c.*1332G>A rs886048973
NM_002834.4(PTPN11):c.*1374G>C rs139266170
NM_002834.4(PTPN11):c.*1536T>C rs371375321
NM_002834.4(PTPN11):c.*1536T>G rs371375321
NM_002834.4(PTPN11):c.*1588C>G rs886048974
NM_002834.4(PTPN11):c.*1729A>G rs886048975
NM_002834.4(PTPN11):c.*1805C>T rs188162577
NM_002834.4(PTPN11):c.*1806G>A rs766598691
NM_002834.4(PTPN11):c.*1946G>A rs886048976
NM_002834.4(PTPN11):c.*2493C>T rs886048977
NM_002834.4(PTPN11):c.*2540G>T rs886048978
NM_002834.4(PTPN11):c.*2731G>A rs768622106
NM_002834.4(PTPN11):c.*2907A>C rs886048979
NM_002834.4(PTPN11):c.*2927T>A rs190612693
NM_002834.4(PTPN11):c.*2928A>T rs565075386
NM_002834.4(PTPN11):c.*3006G>A rs141870860
NM_002834.4(PTPN11):c.*3043C>T rs41307084
NM_002834.4(PTPN11):c.*3231T>G rs769489372
NM_002834.4(PTPN11):c.*3244A>G rs763237386
NM_002834.4(PTPN11):c.*325G>A rs192080780
NM_002834.4(PTPN11):c.*329T>C rs576039073
NM_002834.4(PTPN11):c.*3300T>C rs886048980
NM_002834.4(PTPN11):c.*3381A>G rs374962107
NM_002834.4(PTPN11):c.*3720T>C rs886048981
NM_002834.4(PTPN11):c.*4019C>T rs886048982
NM_002834.4(PTPN11):c.*41_*46del rs886048967
NM_002834.4(PTPN11):c.*50C>T rs730880328
NM_002834.4(PTPN11):c.*656del rs886048968
NM_002834.4(PTPN11):c.*670G>A rs112287134
NM_002834.4(PTPN11):c.*687C>T rs748512308
NM_002834.4(PTPN11):c.*740C>T rs886048969
NM_002834.4(PTPN11):c.*775G>A rs181946923
NM_002834.4(PTPN11):c.*838G>A rs142648640
NM_002834.4(PTPN11):c.-139G>A rs886048964
NM_002834.4(PTPN11):c.-179G>C rs545369072
NM_002834.4(PTPN11):c.-245C>G rs886048963
NM_002834.4(PTPN11):c.-273G>A rs58805176
NM_002834.4(PTPN11):c.1048T>G (p.Ser350Ala) rs146571700
NM_002834.4(PTPN11):c.1174G>A (p.Ala392Thr) rs774356443
NM_002834.4(PTPN11):c.1190C>T (p.Thr397Met) rs767503386
NM_002834.4(PTPN11):c.1221A>G (p.Gly407=) rs532529560
NM_002834.4(PTPN11):c.1232C>T (p.Thr411Met) rs121918467
NM_002834.4(PTPN11):c.1277A>C (p.His426Pro) rs727505389
NM_002834.4(PTPN11):c.1361C>T (p.Pro454Leu) rs1566185599
NM_002834.4(PTPN11):c.137+35G>A rs727505387
NM_002834.4(PTPN11):c.1379+6A>G rs746958309
NM_002834.4(PTPN11):c.1380-14C>G rs193922657
NM_002834.4(PTPN11):c.14+25G>C rs7972574
NM_002834.4(PTPN11):c.14+54C>A rs7973432
NM_002834.4(PTPN11):c.14+8G>T rs886048965
NM_002834.4(PTPN11):c.1468G>A (p.Val490Ile) rs781083623
NM_002834.4(PTPN11):c.15-38C>T rs727505378
NM_002834.4(PTPN11):c.15-4del rs1223869705
NM_002834.4(PTPN11):c.1520C>A (p.Thr507Lys) rs886039463
NM_002834.4(PTPN11):c.1529A>G (p.Gln510Arg) rs121918470
NM_002834.4(PTPN11):c.1579C>T (p.Arg527Cys) rs191525506
NM_002834.4(PTPN11):c.1599+26G>A rs727505390
NM_002834.4(PTPN11):c.1599+33A>G rs727505380
NM_002834.4(PTPN11):c.1599+4C>A rs142606486
NM_002834.4(PTPN11):c.1600-95C>T rs3741983
NM_002834.4(PTPN11):c.179G>T (p.Gly60Val) rs397507509
NM_002834.4(PTPN11):c.181G>C (p.Asp61His) rs397507510
NM_002834.4(PTPN11):c.181_183del (p.Asp61del) rs869025574
NM_002834.4(PTPN11):c.205G>A (p.Glu69Lys) rs397507511
NM_002834.4(PTPN11):c.226G>A (p.Glu76Lys) rs121918464
NM_002834.4(PTPN11):c.329A>C (p.Glu110Ala) rs397507519
NM_002834.4(PTPN11):c.455G>A (p.Arg152His) rs397507521
NM_002834.4(PTPN11):c.473G>C (p.Gly158Ala) rs1555267825
NM_002834.4(PTPN11):c.487G>A (p.Gly163Ser) rs730880992
NM_002834.4(PTPN11):c.53A>G (p.Asn18Ser) rs587778635
NM_002834.4(PTPN11):c.757-69T>C rs150087259
NM_002834.4(PTPN11):c.785T>G (p.Leu262Arg) rs397507526
NM_002834.4(PTPN11):c.824A>C (p.Asn275Thr)
NM_002834.4(PTPN11):c.827A>G (p.Lys276Arg) rs777603059
NM_002834.4(PTPN11):c.853+8T>C rs886048966
NM_002834.4(PTPN11):c.853T>G (p.Phe285Val) rs397507531
NM_002834.4(PTPN11):c.854-21C>T rs41279090
NM_002834.4(PTPN11):c.854-30T>C rs144391508
NM_002834.4(PTPN11):c.854T>A (p.Phe285Tyr) rs121918463
NM_002834.4(PTPN11):c.933+25T>C rs727505386
NM_002834.4(PTPN11):c.940T>C (p.Phe314Leu) rs968167995
NM_002834.4(PTPN11):c.951G>A (p.Lys317=) rs576405446
NM_002834.4(PTPN11):c.959A>G (p.Asn320Ser) rs1398859175
NM_002834.5(PTPN11):c.*1038G>A
NM_002834.5(PTPN11):c.*1419G>A
NM_002834.5(PTPN11):c.*1520C>T
NM_002834.5(PTPN11):c.*1616C>T
NM_002834.5(PTPN11):c.*1830G>A
NM_002834.5(PTPN11):c.*2078G>A
NM_002834.5(PTPN11):c.*2096T>G
NM_002834.5(PTPN11):c.*2150G>T
NM_002834.5(PTPN11):c.*2179C>T
NM_002834.5(PTPN11):c.*2608C>T
NM_002834.5(PTPN11):c.*2629A>G
NM_002834.5(PTPN11):c.*2822A>G
NM_002834.5(PTPN11):c.*3971A>G
NM_002834.5(PTPN11):c.*474A>G
NM_002834.5(PTPN11):c.*64C>G
NM_002834.5(PTPN11):c.*673G>A
NM_002834.5(PTPN11):c.*682T>C
NM_002834.5(PTPN11):c.*684G>A
NM_002834.5(PTPN11):c.*720C>T
NM_002834.5(PTPN11):c.*799G>A
NM_002834.5(PTPN11):c.*801C>T
NM_002834.5(PTPN11):c.*802G>A
NM_002834.5(PTPN11):c.-151C>A
NM_002834.5(PTPN11):c.-161T>A
NM_002834.5(PTPN11):c.-71C>T
NM_002834.5(PTPN11):c.-77G>A
NM_002834.5(PTPN11):c.1093-9C>A rs12301915
NM_002834.5(PTPN11):c.124A>G (p.Thr42Ala) rs397507501
NM_002834.5(PTPN11):c.1271C>T (p.Pro424Leu) rs1592852902
NM_002834.5(PTPN11):c.1381G>A (p.Ala461Thr) rs121918468
NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala) rs121918469
NM_002834.5(PTPN11):c.1402A>T (p.Thr468Ser)
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457
NM_002834.5(PTPN11):c.1409T>C (p.Ile470Thr)
NM_002834.5(PTPN11):c.1449T>G (p.Gly483=) rs143238917
NM_002834.5(PTPN11):c.1471C>A (p.Pro491Thr) rs397507539
NM_002834.5(PTPN11):c.1471C>G (p.Pro491Ala) rs397507539
NM_002834.5(PTPN11):c.1471C>T (p.Pro491Ser) rs397507539
NM_002834.5(PTPN11):c.1472C>A (p.Pro491His) rs397507540
NM_002834.5(PTPN11):c.1472C>T (p.Pro491Leu) rs397507540
NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp) rs397507541
NM_002834.5(PTPN11):c.1493G>T (p.Arg498Leu) rs397507542
NM_002834.5(PTPN11):c.1496C>T (p.Ser499Phe)
NM_002834.5(PTPN11):c.1500G>T (p.Gln500His)
NM_002834.5(PTPN11):c.1502G>A (p.Arg501Lys) rs397507543
NM_002834.5(PTPN11):c.1504T>A (p.Ser502Thr) rs121918458
NM_002834.5(PTPN11):c.1504T>G (p.Ser502Ala) rs121918458
NM_002834.5(PTPN11):c.1505C>T (p.Ser502Leu) rs397507544
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.1508G>A (p.Gly503Glu) rs397507546
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu) rs397507549
NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro) rs121918470
NM_002834.5(PTPN11):c.1529A>T (p.Gln510Leu)
NM_002834.5(PTPN11):c.1530G>T (p.Gln510His) rs397507550
NM_002834.5(PTPN11):c.155C>T (p.Thr52Ile) rs397507503
NM_002834.5(PTPN11):c.1620C>T (p.His540=) rs587781132
NM_002834.5(PTPN11):c.1650G>A (p.Ala550=) rs374896287
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met) rs148176616
NM_002834.5(PTPN11):c.166A>G (p.Ile56Val) rs397507504
NM_002834.5(PTPN11):c.1678C>T (p.Leu560Phe) rs397516797
NM_002834.5(PTPN11):c.1682C>T (p.Pro561Leu) rs141140214
NM_002834.5(PTPN11):c.171G>T (p.Gln57His)
NM_002834.5(PTPN11):c.172A>C (p.Asn58His) rs397507505
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp) rs397507505
NM_002834.5(PTPN11):c.174C>A (p.Asn58Lys) rs397507506
NM_002834.5(PTPN11):c.174C>G (p.Asn58Lys) rs397507506
NM_002834.5(PTPN11):c.175_186dup (p.Thr59_Tyr62dup)
NM_002834.5(PTPN11):c.178G>A (p.Gly60Ser) rs397507507
NM_002834.5(PTPN11):c.179G>A (p.Gly60Asp)
NM_002834.5(PTPN11):c.179G>C (p.Gly60Ala) rs397507509
NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn) rs397507510
NM_002834.5(PTPN11):c.182A>C (p.Asp61Ala) rs121918461
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) rs121918461
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp) rs121918460
NM_002834.5(PTPN11):c.186_188del (p.Tyr63del)
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459
NM_002834.5(PTPN11):c.205G>C (p.Glu69Gln) rs397507511
NM_002834.5(PTPN11):c.206A>T (p.Glu69Val) rs727503380
NM_002834.5(PTPN11):c.209A>G (p.Lys70Arg) rs397516801
NM_002834.5(PTPN11):c.211T>C (p.Phe71Leu) rs397507512
NM_002834.5(PTPN11):c.214G>A (p.Ala72Thr) rs121918453
NM_002834.5(PTPN11):c.214G>C (p.Ala72Pro) rs121918453
NM_002834.5(PTPN11):c.214G>T (p.Ala72Ser) rs121918453
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) rs121918454
NM_002834.5(PTPN11):c.217_218delinsCT (p.Thr73Leu) rs397516802
NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile) rs121918462
NM_002834.5(PTPN11):c.228G>C (p.Glu76Asp) rs397507514
NM_002834.5(PTPN11):c.228G>T (p.Glu76Asp) rs397507514
NM_002834.5(PTPN11):c.235C>A (p.Gln79Lys) rs397516803
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) rs121918466
NM_002834.5(PTPN11):c.255C>T (p.His85=) rs61736914
NM_002834.5(PTPN11):c.317A>C (p.Asp106Ala) rs397507517
NM_002834.5(PTPN11):c.317A>G (p.Asp106Gly)
NM_002834.5(PTPN11):c.325T>C (p.Ser109Pro)
NM_002834.5(PTPN11):c.328G>A (p.Glu110Lys) rs397507518
NM_002834.5(PTPN11):c.387A>C (p.Lys129Asn)
NM_002834.5(PTPN11):c.392A>G (p.Lys131Arg) rs397516805
NM_002834.5(PTPN11):c.395A>C (p.His132Pro)
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002834.5(PTPN11):c.417G>T (p.Glu139Asp) rs397507520
NM_002834.5(PTPN11):c.48A>G (p.Ala16=) rs372736227
NM_002834.5(PTPN11):c.525+12G>C rs41304351
NM_002834.5(PTPN11):c.526-8C>A rs184804143
NM_002834.5(PTPN11):c.556C>T (p.Arg186Trp) rs143433437
NM_002834.5(PTPN11):c.558G>T (p.Arg186=) rs200920312
NM_002834.5(PTPN11):c.598A>T (p.Asn200Tyr) rs727503381
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile) rs267606990
NM_002834.5(PTPN11):c.64A>G (p.Thr22Ala)
NM_002834.5(PTPN11):c.663A>G (p.Ile221Met)
NM_002834.5(PTPN11):c.762ACA[2] (p.Gln257del) rs397507524
NM_002834.5(PTPN11):c.762ACA[4] (p.Gln257dup) rs397507524
NM_002834.5(PTPN11):c.767A>G (p.Gln256Arg) rs397507523
NM_002834.5(PTPN11):c.772G>A (p.Glu258Lys)
NM_002834.5(PTPN11):c.774G>T (p.Glu258Asp) rs397516809
NM_002834.5(PTPN11):c.781C>T (p.Leu261Phe) rs397507525
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329
NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser) rs397507527
NM_002834.5(PTPN11):c.802G>T (p.Gly268Cys) rs397507527
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val) rs397507529
NM_002834.5(PTPN11):c.846C>G (p.Ile282Met) rs397507530
NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu) rs397507531
NM_002834.5(PTPN11):c.854-14T>A
NM_002834.5(PTPN11):c.854-32A>C rs187389813
NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser) rs121918463
NM_002834.5(PTPN11):c.854T>G (p.Phe285Cys) rs121918463
NM_002834.5(PTPN11):c.855T>G (p.Phe285Leu) rs397516810
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_002834.5(PTPN11):c.923A>C (p.Asn308Thr) rs121918455
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_002834.5(PTPN11):c.925A>G (p.Ile309Val) rs201787206
NM_002880.3(RAF1):c.-339_-338AG[1] rs527774250
NM_002880.3(RAF1):c.-415-1C>G rs61730434
NM_004004.6(GJB2):c.205T>C (p.Phe69Leu) rs1593351503
NM_004333.6(BRAF):c.*111C>T rs539860876
NM_004333.6(BRAF):c.*387G>A rs114105685
NM_004333.6(BRAF):c.*3C>T rs746680490
NM_004333.6(BRAF):c.-5A>G rs71645936
NM_004333.6(BRAF):c.1023A>G (p.Pro341=) rs56092510
NM_004333.6(BRAF):c.1024A>G (p.Ile342Val) rs201481342
NM_004333.6(BRAF):c.1166G>A (p.Arg389His) rs577372072
NM_004333.6(BRAF):c.1205C>A (p.Pro402His) rs199927105
NM_004333.6(BRAF):c.1205C>G (p.Pro402Arg) rs199927105
NM_004333.6(BRAF):c.1387A>G (p.Ile463Val) rs1562957000
NM_004333.6(BRAF):c.1502A>C (p.Glu501Ala) rs180177039
NM_004333.6(BRAF):c.1513C>T (p.Leu505Phe) rs397507477
NM_004333.6(BRAF):c.1593G>C (p.Trp531Cys) rs606231228
NM_004333.6(BRAF):c.1796C>T (p.Thr599Ile) rs121913375
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) rs180177042
NM_004333.6(BRAF):c.1940A>G (p.Tyr647Cys) rs1562939198
NM_004333.6(BRAF):c.2128-15dup rs373442098
NM_004333.6(BRAF):c.2128-16_2128-15del rs886062015
NM_004333.6(BRAF):c.2128-27_2128-16delinsTCT rs886062016
NM_004333.6(BRAF):c.2128-36dup rs60814637
NM_004333.6(BRAF):c.2128-4del rs886062014
NM_004333.6(BRAF):c.2191C>T (p.Pro731Ser) rs1562931107
NM_004333.6(BRAF):c.2196C>G (p.Ser732=) rs142592480
NM_004333.6(BRAF):c.36G>A (p.Ala12=) rs397507454
NM_004333.6(BRAF):c.437G>A (p.Arg146Gln) rs557241012
NM_004333.6(BRAF):c.722C>G (p.Thr241Arg) rs387906660
NM_004333.6(BRAF):c.72G>C (p.Glu24Asp) rs587778114
NM_004333.6(BRAF):c.739T>C (p.Phe247Leu) rs397516903
NM_004333.6(BRAF):c.741T>G (p.Phe247Leu) rs397509343
NM_004333.6(BRAF):c.977T>C (p.Ile326Thr) rs368435578
NM_004333.6(BRAF):c.981-14C>A rs200002171
NM_004409.5(DMPK):c.161-189T>C rs752437441
NM_004715.4(CTDP1):c.1461G>A (p.Pro487=) rs2126082
NM_004715.4(CTDP1):c.2817T>C (p.Asp939=) rs626169
NM_004715.4(CTDP1):c.863+389C>T rs113994102
NM_004715.4(CTDP1):c.978G>A (p.Thr326=) rs599554
NM_004715.5(CTDP1):c.2418-207_2418-165dup rs147933855
NM_004715.5(CTDP1):c.2649G>A (p.Glu883=)
NM_004859.4(CLTC):c.1912_1916delinsAGA (p.Ala639fs)
NM_004985.5(KRAS):c.-160A>G rs727503111
NM_004985.5(KRAS):c.101C>G (p.Pro34Arg) rs104894366
NM_004985.5(KRAS):c.101C>T (p.Pro34Leu) rs104894366
NM_004985.5(KRAS):c.108A>G (p.Ile36Met) rs727503109
NM_004985.5(KRAS):c.111+8T>G
NM_004985.5(KRAS):c.13A>G (p.Lys5Glu) rs193929331
NM_004985.5(KRAS):c.164T>G (p.Ile55Ser)
NM_004985.5(KRAS):c.173C>T (p.Thr58Ile) rs104894364
NM_004985.5(KRAS):c.178G>C (p.Gly60Arg) rs104894359
NM_004985.5(KRAS):c.179G>T (p.Gly60Val) rs727503108
NM_004985.5(KRAS):c.182A>G (p.Gln61Arg) rs121913240
NM_004985.5(KRAS):c.198A>G (p.Ala66=) rs200229810
NM_004985.5(KRAS):c.202_204del (p.Arg68del)
NM_004985.5(KRAS):c.214A>T (p.Met72Leu) rs727504662
NM_004985.5(KRAS):c.221C>T (p.Thr74Ile)
NM_004985.5(KRAS):c.264A>G (p.Lys88=) rs370920665
NM_004985.5(KRAS):c.40G>A (p.Val14Ile) rs104894365
NM_004985.5(KRAS):c.451-5600G>C
NM_004985.5(KRAS):c.451-5617= rs4362222
NM_004985.5(KRAS):c.451-5642A>C
NM_004985.5(KRAS):c.451-5642A>T rs1592798693
NM_004985.5(KRAS):c.451-9G>A rs12313763
NM_004985.5(KRAS):c.454G>T (p.Val152Phe) rs397517041
NM_004985.5(KRAS):c.458A>G (p.Asp153Gly) rs104894360
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) rs104894360
NM_004985.5(KRAS):c.466T>A (p.Phe156Ile) rs397517042
NM_004985.5(KRAS):c.466T>G (p.Phe156Val) rs397517042
NM_004985.5(KRAS):c.519T>C (p.Asp173=) rs1137282
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) rs727503110
NM_005188.3(CBL):c.1096-4_1096-1del rs397517077
NM_005188.3(CBL):c.1111T>A (p.Tyr371Asn) rs267606706
NM_005188.3(CBL):c.2519G>C (p.Cys840Ser) rs376536789
NM_005188.4(CBL):c.1096-1G>C rs397517076
NM_005188.4(CBL):c.1096-1G>T rs397517076
NM_005188.4(CBL):c.1099C>A (p.Gln367Lys) rs727504504
NM_005188.4(CBL):c.1228-2A>G rs727504426
NM_005343.4(HRAS):c.181C>A (p.Gln61Lys) rs28933406
NM_005343.4(HRAS):c.183G>T (p.Gln61His) rs121913496
NM_005343.4(HRAS):c.257A>C (p.Asn86Thr) rs138272051
NM_005343.4(HRAS):c.374T>C (p.Val125Ala)
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_005343.4(HRAS):c.450+107_450+112dup
NM_005343.4(HRAS):c.451-4C>T rs1589789708
NM_005343.4(HRAS):c.520C>G (p.Pro174Ala) rs397517144
NM_005343.4(HRAS):c.548G>A (p.Ser183Asn)
NM_005633.3(SOS1):c.*1094_*1097delTTTG rs886056016
NM_005633.3(SOS1):c.*1224A>G rs886056015
NM_005633.3(SOS1):c.*1303C>A rs115153488
NM_005633.3(SOS1):c.*1309A>G rs145273962
NM_005633.3(SOS1):c.*1333_*1336dup rs35969619
NM_005633.3(SOS1):c.*1385A>G rs868000333
NM_005633.3(SOS1):c.*1516G>A rs550823381
NM_005633.3(SOS1):c.*1552T>A rs139679723
NM_005633.3(SOS1):c.*1589T>G rs886056014
NM_005633.3(SOS1):c.*1606del rs34248802
NM_005633.3(SOS1):c.*1678C>A rs886056013
NM_005633.3(SOS1):c.*1684G>C rs886056012
NM_005633.3(SOS1):c.*1694del rs767903412
NM_005633.3(SOS1):c.*1731A>G rs79270739
NM_005633.3(SOS1):c.*1844A>G rs10166395
NM_005633.3(SOS1):c.*2048_*2050dup rs761591990
NM_005633.3(SOS1):c.*2063_*2066dup rs886056011
NM_005633.3(SOS1):c.*2208dup rs886056010
NM_005633.3(SOS1):c.*2218T>A rs886056009
NM_005633.3(SOS1):c.*223C>T rs886056022
NM_005633.3(SOS1):c.*2244_*2245dup rs3832123
NM_005633.3(SOS1):c.*2439del rs377250198
NM_005633.3(SOS1):c.*2497G>A rs886056008
NM_005633.3(SOS1):c.*2503_*2506dup rs886056007
NM_005633.3(SOS1):c.*2567T>A rs6704656
NM_005633.3(SOS1):c.*2983C>T rs190454003
NM_005633.3(SOS1):c.*298C>G rs886056021
NM_005633.3(SOS1):c.*3189_*3192del rs572584074
NM_005633.3(SOS1):c.*328A>G rs1059310
NM_005633.3(SOS1):c.*3416_*3417del rs200892895
NM_005633.3(SOS1):c.*3451A>T rs78411167
NM_005633.3(SOS1):c.*3463A>G rs886056006
NM_005633.3(SOS1):c.*3539T>C rs1037495
NM_005633.3(SOS1):c.*3566_*3568del rs886056005
NM_005633.3(SOS1):c.*3592C>T rs550315455
NM_005633.3(SOS1):c.*3724T>C rs11124658
NM_005633.3(SOS1):c.*3725T>C rs72799430
NM_005633.3(SOS1):c.*3727G>C rs886056004
NM_005633.3(SOS1):c.*3918T>C rs1043793
NM_005633.3(SOS1):c.*399_*400insCA rs144104838
NM_005633.3(SOS1):c.*4023T>C rs1043800
NM_005633.3(SOS1):c.*4110C>A rs886056003
NM_005633.3(SOS1):c.*4221C>T rs565544523
NM_005633.3(SOS1):c.*4265A>G rs377303107
NM_005633.3(SOS1):c.*4C>T rs188849286
NM_005633.3(SOS1):c.*534C>T rs773935049
NM_005633.3(SOS1):c.*544C>T rs886056020
NM_005633.3(SOS1):c.*642T>C rs886056019
NM_005633.3(SOS1):c.*696G>A rs886056018
NM_005633.3(SOS1):c.*758A>T rs182650589
NM_005633.3(SOS1):c.*766del rs533720751
NM_005633.3(SOS1):c.*805C>A rs1059313
NM_005633.3(SOS1):c.*855G>A rs886056017
NM_005633.3(SOS1):c.*909G>A rs147219108
NM_005633.3(SOS1):c.1018C>T (p.Pro340Ser) rs190222208
NM_005633.3(SOS1):c.1074+5G>C rs145155424
NM_005633.3(SOS1):c.1098T>A (p.Asp366Glu) rs730881040
NM_005633.3(SOS1):c.109A>G (p.Thr37Ala) rs150565592
NM_005633.3(SOS1):c.1132A>G (p.Thr378Ala) rs397517146
NM_005633.3(SOS1):c.1203-20T>C rs112906251
NM_005633.3(SOS1):c.1230G>A (p.Gln410=) rs141390073
NM_005633.3(SOS1):c.1271A>G (p.Glu424Gly) rs730881042
NM_005633.3(SOS1):c.1293_1294delinsGA (p.Trp432Arg) rs1572830693
NM_005633.3(SOS1):c.1294T>C (p.Trp432Arg) rs267607080
NM_005633.3(SOS1):c.1297G>A (p.Glu433Lys) rs397517147
NM_005633.3(SOS1):c.1300G>A (p.Gly434Arg) rs397517148
NM_005633.3(SOS1):c.1310T>C (p.Ile437Thr) rs397517150
NM_005633.3(SOS1):c.1310T>G (p.Ile437Ser) rs397517150
NM_005633.3(SOS1):c.1322G>A (p.Cys441Tyr) rs727504295
NM_005633.3(SOS1):c.1490G>A (p.Arg497Gln) rs371314838
NM_005633.3(SOS1):c.1528T>C (p.Tyr510His) rs201404055
NM_005633.3(SOS1):c.1564A>C (p.Asn522His) rs761094509
NM_005633.3(SOS1):c.1574T>C (p.Ile525Thr) rs146722878
NM_005633.3(SOS1):c.1642A>C (p.Ser548Arg) rs397517149
NM_005633.3(SOS1):c.1644T>A (p.Ser548Arg) rs730881045
NM_005633.3(SOS1):c.1647A>G (p.Thr549=) rs139683425
NM_005633.3(SOS1):c.1649T>C (p.Leu550Pro) rs397517153
NM_005633.3(SOS1):c.1653_1655del (p.Arg552del) rs1572830219
NM_005633.3(SOS1):c.1654A>G (p.Arg552Gly) rs137852814
NM_005633.3(SOS1):c.1655G>A (p.Arg552Lys) rs397517154
NM_005633.3(SOS1):c.1656G>C (p.Arg552Ser) rs267607079
NM_005633.3(SOS1):c.1656G>T (p.Arg552Ser) rs267607079
NM_005633.3(SOS1):c.1659G>A (p.Met553Ile) rs886056025
NM_005633.3(SOS1):c.1705C>G (p.Leu569Val) rs200786705
NM_005633.3(SOS1):c.1720G>A (p.Val574Ile) rs727504641
NM_005633.3(SOS1):c.1727G>T (p.Arg576Ile) rs1553356023
NM_005633.3(SOS1):c.1829T>C (p.Ile610Thr) rs776146535
NM_005633.3(SOS1):c.1867T>A (p.Phe623Ile) rs727505093
NM_005633.3(SOS1):c.1867T>G (p.Phe623Val) rs727505093
NM_005633.3(SOS1):c.195A>C (p.Arg65=) rs7609455
NM_005633.3(SOS1):c.1964C>T (p.Pro655Leu) rs56219475
NM_005633.3(SOS1):c.1989A>C (p.Ile663=) rs587781172
NM_005633.3(SOS1):c.2104T>C (p.Tyr702His) rs727505381
NM_005633.3(SOS1):c.2121T>C (p.Asp707=) rs571408451
NM_005633.3(SOS1):c.2122G>A (p.Ala708Thr) rs140811086
NM_005633.3(SOS1):c.2138G>A (p.Arg713Gln) rs483352826
NM_005633.3(SOS1):c.2167+6T>G rs186640807
NM_005633.3(SOS1):c.2183A>T (p.Lys728Ile) rs397517156
NM_005633.3(SOS1):c.2197A>T (p.Ile733Phe) rs574088829
NM_005633.3(SOS1):c.225A>G (p.Gln75=) rs560037748
NM_005633.3(SOS1):c.2316G>C (p.Glu772Asp) rs1176763588
NM_005633.3(SOS1):c.233T>G (p.Phe78Cys) rs201352584
NM_005633.3(SOS1):c.2371C>A (p.Leu791Ile) rs142004123
NM_005633.3(SOS1):c.244A>G (p.Ile82Val) rs397517157
NM_005633.3(SOS1):c.2511-13_2511-9del rs727503436
NM_005633.3(SOS1):c.2536G>A (p.Glu846Lys) rs397517159
NM_005633.3(SOS1):c.253T>C (p.Trp85Arg) rs730881054
NM_005633.3(SOS1):c.2671G>A (p.Glu891Lys) rs1553353452
NM_005633.3(SOS1):c.2673+14T>C rs183998234
NM_005633.3(SOS1):c.2760G>A (p.Arg920=) rs149092581
NM_005633.3(SOS1):c.2789T>C (p.Phe930Ser) rs886056024
NM_005633.3(SOS1):c.2791+53C>T rs7577088
NM_005633.3(SOS1):c.280A>G (p.Ile94Val) rs144757941
NM_005633.3(SOS1):c.2964+32T>G rs727505384
NM_005633.3(SOS1):c.2966G>A (p.Arg989Lys) rs202043599
NM_005633.3(SOS1):c.3022T>C (p.Tyr1008His) rs397517163
NM_005633.3(SOS1):c.3032A>G (p.Asn1011Ser) rs8192671
NM_005633.3(SOS1):c.3068C>G (p.Pro1023Arg) rs1572806229
NM_005633.3(SOS1):c.3081+26G>A rs186106971
NM_005633.3(SOS1):c.3081+32A>G rs6723430
NM_005633.3(SOS1):c.3197G>C (p.Ser1066Thr) rs1428068201
NM_005633.3(SOS1):c.322G>A (p.Glu108Lys) rs397517164
NM_005633.3(SOS1):c.3269C>T (p.Pro1090Leu) rs730881034
NM_005633.3(SOS1):c.3286T>A (p.Ser1096Thr) rs376722127
NM_005633.3(SOS1):c.3290G>C (p.Ser1097Thr) rs727505379
NM_005633.3(SOS1):c.3347-1G>A rs141565234
NM_005633.3(SOS1):c.3347-20T>G rs727505382
NM_005633.3(SOS1):c.3347-3C>T rs779326746
NM_005633.3(SOS1):c.335C>G (p.Pro112Arg) rs397517166
NM_005633.3(SOS1):c.3391+7A>G rs201982464
NM_005633.3(SOS1):c.3392G>A (p.Arg1131Lys) rs768113420
NM_005633.3(SOS1):c.3418T>A (p.Leu1140Ile) rs375550588
NM_005633.3(SOS1):c.3433G>A (p.Asp1145Asn) rs727505383
NM_005633.3(SOS1):c.3585A>G (p.Arg1195=) rs587781173
NM_005633.3(SOS1):c.3624T>C (p.Pro1208=) rs763107563
NM_005633.3(SOS1):c.3658G>A (p.Val1220Met) rs776814547
NM_005633.3(SOS1):c.3697C>A (p.Leu1233Ile) rs777373438
NM_005633.3(SOS1):c.3709C>G (p.Pro1237Ala) rs371408734
NM_005633.3(SOS1):c.3793T>G (p.Ser1265Ala) rs886056023
NM_005633.3(SOS1):c.3836C>T (p.Thr1279Ile) rs758258471
NM_005633.3(SOS1):c.396A>T (p.Ala132=) rs727505385
NM_005633.3(SOS1):c.487A>G (p.Lys163Glu) rs886042206
NM_005633.3(SOS1):c.508A>G (p.Lys170Glu) rs397517172
NM_005633.3(SOS1):c.512T>C (p.Val171Ala) rs397517174
NM_005633.3(SOS1):c.553A>G (p.Ile185Val) rs143962515
NM_005633.3(SOS1):c.570C>T (p.Asp190=) rs55980502
NM_005633.3(SOS1):c.571G>A (p.Glu191Lys) rs886041241
NM_005633.3(SOS1):c.587C>T (p.Ser196Leu) rs199898869
NM_005633.3(SOS1):c.5A>T (p.Gln2Leu) rs886056026
NM_005633.3(SOS1):c.643T>C (p.Tyr215His) rs730881039
NM_005633.3(SOS1):c.675T>G (p.Val225=) rs371482290
NM_005633.3(SOS1):c.698A>G (p.Asn233Ser) rs144934321
NM_005633.3(SOS1):c.720+25C>G rs997344
NM_005633.3(SOS1):c.749T>C (p.Val250Ala) rs139290271
NM_005633.3(SOS1):c.797C>A (p.Thr266Lys) rs137852812
NM_005633.3(SOS1):c.806T>C (p.Met269Thr) rs137852813
NM_005633.3(SOS1):c.806T>G (p.Met269Arg) rs137852813
NM_005633.3(SOS1):c.829C>A (p.Pro277Thr) rs1057517871
NM_005633.3(SOS1):c.848T>C (p.Phe283Ser) rs1572855029
NM_005633.3(SOS1):c.864+12A>C rs374379005
NM_005633.3(SOS1):c.865-4T>C rs750788947
NM_005633.3(SOS1):c.899G>A (p.Arg300Gln) rs754374236
NM_005633.3(SOS1):c.925G>T (p.Asp309Tyr) rs397517180
NM_005633.3(SOS1):c.929G>A (p.Arg310His) rs143481916
NM_005633.3(SOS1):c.979A>G (p.Ile327Val) rs758546951
NM_005633.3(SOS1):c.985G>A (p.Glu329Lys) rs756679265
NM_005633.3:c.213+15C>G
NM_005633.4(SOS1):c.*1049G>T
NM_005633.4(SOS1):c.*1085A>G
NM_005633.4(SOS1):c.*110C>A
NM_005633.4(SOS1):c.*1270T>C
NM_005633.4(SOS1):c.*1391C>T
NM_005633.4(SOS1):c.*1396G>T
NM_005633.4(SOS1):c.*1412A>G
NM_005633.4(SOS1):c.*1477G>A
NM_005633.4(SOS1):c.*1535G>A
NM_005633.4(SOS1):c.*1641A>G
NM_005633.4(SOS1):c.*1762A>C
NM_005633.4(SOS1):c.*185A>G
NM_005633.4(SOS1):c.*1998G>T
NM_005633.4(SOS1):c.*2056A>C
NM_005633.4(SOS1):c.*2138G>T
NM_005633.4(SOS1):c.*2160C>T
NM_005633.4(SOS1):c.*218T>G
NM_005633.4(SOS1):c.*21A>G
NM_005633.4(SOS1):c.*2246A>T
NM_005633.4(SOS1):c.*2257C>G
NM_005633.4(SOS1):c.*230T>C
NM_005633.4(SOS1):c.*2512C>A
NM_005633.4(SOS1):c.*2517C>T
NM_005633.4(SOS1):c.*2574A>G
NM_005633.4(SOS1):c.*2662G>A
NM_005633.4(SOS1):c.*2893C>A
NM_005633.4(SOS1):c.*3041A>C
NM_005633.4(SOS1):c.*3149C>T
NM_005633.4(SOS1):c.*3158T>C
NM_005633.4(SOS1):c.*3230T>C
NM_005633.4(SOS1):c.*3252A>C
NM_005633.4(SOS1):c.*3291C>T
NM_005633.4(SOS1):c.*3326T>C
NM_005633.4(SOS1):c.*3367G>A
NM_005633.4(SOS1):c.*3458A>C
NM_005633.4(SOS1):c.*3569T>C
NM_005633.4(SOS1):c.*3750T>C
NM_005633.4(SOS1):c.*3811T>C
NM_005633.4(SOS1):c.*3989G>C
NM_005633.4(SOS1):c.*4014T>C
NM_005633.4(SOS1):c.*4076C>T
NM_005633.4(SOS1):c.*4077G>T
NM_005633.4(SOS1):c.*408C>T
NM_005633.4(SOS1):c.*421A>G
NM_005633.4(SOS1):c.*44T>C
NM_005633.4(SOS1):c.*483A>C
NM_005633.4(SOS1):c.*559C>T
NM_005633.4(SOS1):c.*664C>T
NM_005633.4(SOS1):c.*873C>T
NM_005633.4(SOS1):c.1175C>G (p.Ser392Cys)
NM_005633.4(SOS1):c.1250T>C (p.Leu417Pro)
NM_005633.4(SOS1):c.1391T>C (p.Phe464Ser)
NM_005633.4(SOS1):c.1403T>C (p.Met468Thr)
NM_005633.4(SOS1):c.1405A>T (p.Ile469Phe)
NM_005633.4(SOS1):c.1422T>A (p.Asn474Lys)
NM_005633.4(SOS1):c.1477A>G (p.Lys493Glu)
NM_005633.4(SOS1):c.1522A>G (p.Asn508Asp)
NM_005633.4(SOS1):c.1607A>G (p.Asn536Ser)
NM_005633.4(SOS1):c.1635G>A (p.Gln545=)
NM_005633.4(SOS1):c.1655G>C rs397517154
NM_005633.4(SOS1):c.1660C>A (p.Leu554Ile)
NM_005633.4(SOS1):c.1663G>A (p.Asp555Asn)
NM_005633.4(SOS1):c.1681G>A (p.Glu561Lys)
NM_005633.4(SOS1):c.1708_1713del (p.Pro570_Ser571del)
NM_005633.4(SOS1):c.2158A>G (p.Thr720Ala)
NM_005633.4(SOS1):c.2183A>C (p.Lys728Thr)
NM_005633.4(SOS1):c.23A>T (p.Tyr8Phe)
NM_005633.4(SOS1):c.2674-7C>T
NM_005633.4(SOS1):c.2708A>C (p.Glu903Ala)
NM_005633.4(SOS1):c.3092A>G (p.Tyr1031Cys)
NM_005633.4(SOS1):c.3134C>G (p.Pro1045Arg)
NM_005633.4(SOS1):c.3298G>T (p.Asp1100Tyr)
NM_005633.4(SOS1):c.3370G>A (p.Val1124Ile)
NM_005633.4(SOS1):c.3391+5G>C
NM_005633.4(SOS1):c.3592A>G (p.Ile1198Val)
NM_005633.4(SOS1):c.427A>G (p.Lys143Glu)
NM_005633.4(SOS1):c.608A>G (p.Asp203Gly)
NM_005633.4(SOS1):c.670A>G (p.Lys224Glu)
NM_005633.4(SOS1):c.730A>G (p.Asn244Asp)
NM_005633.4(SOS1):c.797_799del (p.Thr266_Val267delinsIle)
NM_005633.4(SOS1):c.805A>G (p.Met269Val)
NM_005633.4(SOS1):c.809C>G (p.Thr270Arg)
NM_005633.4(SOS1):c.836T>C (p.Val279Ala)
NM_005850.4(SF3B4):c.-263dupA rs762430957
NM_005850.5(SF3B4):c.1006C>T (p.Arg336Ter) rs397515324
NM_005850.5(SF3B4):c.1060dup (p.Arg354fs) rs782357237
NM_005850.5(SF3B4):c.1147del (p.His383fs) rs387907186
NM_005850.5(SF3B4):c.1147dup (p.His383fs) rs387907186
NM_005850.5(SF3B4):c.1148dup (p.His383fs) rs797045124
NM_005850.5(SF3B4):c.1199del (p.Pro400fs) rs797045123
NM_005850.5(SF3B4):c.1230_1249del (p.Pro411fs) rs797045954
NM_005850.5(SF3B4):c.1232del (p.Pro411fs) rs797045122
NM_005850.5(SF3B4):c.1252_1258del (p.Leu418fs) rs797045121
NM_005850.5(SF3B4):c.193G>T (p.Glu65Ter) rs797045955
NM_005850.5(SF3B4):c.1A>G (p.Met1Val) rs387907185
NM_005850.5(SF3B4):c.2T>C (p.Met1Thr)
NM_005850.5(SF3B4):c.452C>A (p.Ser151Ter) rs797045133
NM_005850.5(SF3B4):c.45_46del (p.Tyr16fs) rs797045956
NM_005850.5(SF3B4):c.625C>T (p.Gln209Ter) rs797045132
NM_005850.5(SF3B4):c.661_664dup (p.Asn222fs) rs797045131
NM_005850.5(SF3B4):c.731_743del (p.Pro244fs) rs797045957
NM_005850.5(SF3B4):c.769del (p.Ile257fs) rs797045130
NM_005850.5(SF3B4):c.796dup (p.Met266fs) rs797045129
NM_005850.5(SF3B4):c.827dup (p.Ser277fs) rs797045128
NM_005850.5(SF3B4):c.836_837insGGGTATG (p.Thr280fs) rs797045127
NM_005850.5(SF3B4):c.864del (p.His288fs) rs797045126
NM_005850.5(SF3B4):c.88del (p.Trp30fs) rs797045134
NM_005850.5(SF3B4):c.913+1G>A rs797045125
NM_006049.4(SNAPC5):c.22-47_22-46del rs745540522
NM_006049.4(SNAPC5):c.22-806del rs886051370
NM_006049.4(SNAPC5):c.22-815dup rs886051370
NM_006270.5(RRAS):c.11G>C (p.Gly4Ala)
NM_006270.5(RRAS):c.145T>C (p.Phe49Leu) rs151014532
NM_006270.5(RRAS):c.147C>A (p.Phe49Leu)
NM_006270.5(RRAS):c.154-4C>G rs372925843
NM_006270.5(RRAS):c.154-5G>A
NM_006270.5(RRAS):c.158A>T (p.Tyr53Phe) rs908791453
NM_006270.5(RRAS):c.167C>G (p.Ser56Cys) rs537601977
NM_006270.5(RRAS):c.174C>T (p.Tyr58=) rs145282813
NM_006270.5(RRAS):c.175G>C (p.Asp59His) rs775437600
NM_006270.5(RRAS):c.201G>A (p.Thr67=) rs1421164782
NM_006270.5(RRAS):c.229G>A (p.Ala77Thr)
NM_006270.5(RRAS):c.231C>A (p.Ala77=) rs557964716
NM_006270.5(RRAS):c.241+5G>A
NM_006270.5(RRAS):c.241+6G>A
NM_006270.5(RRAS):c.241+9G>A
NM_006270.5(RRAS):c.242-8C>T
NM_006270.5(RRAS):c.243C>T (p.Ile81=) rs116683551
NM_006270.5(RRAS):c.255G>A (p.Ala85=) rs142801791
NM_006270.5(RRAS):c.307G>A (p.Gly103Ser)
NM_006270.5(RRAS):c.324C>T (p.Phe108=)
NM_006270.5(RRAS):c.333C>T (p.Asn111=) rs1865077
NM_006270.5(RRAS):c.338G>A (p.Arg113Gln) rs766259420
NM_006270.5(RRAS):c.344+6_344+7del
NM_006270.5(RRAS):c.345-4G>A rs377672475
NM_006270.5(RRAS):c.351C>T (p.Asn117=)
NM_006270.5(RRAS):c.352G>A (p.Glu118Lys)
NM_006270.5(RRAS):c.362A>G (p.Lys121Arg) rs138124318
NM_006270.5(RRAS):c.371C>G (p.Thr124Arg)
NM_006270.5(RRAS):c.371C>T (p.Thr124Met) rs369508242
NM_006270.5(RRAS):c.372G>A (p.Thr124=) rs368978550
NM_006270.5(RRAS):c.379C>T (p.Leu127=) rs145907892
NM_006270.5(RRAS):c.37C>A (p.Arg13=) rs1272875791
NM_006270.5(RRAS):c.394C>T (p.Arg132Cys)
NM_006270.5(RRAS):c.396C>T (p.Arg132=) rs748366671
NM_006270.5(RRAS):c.397G>A (p.Asp133Asn) rs61760904
NM_006270.5(RRAS):c.400G>A (p.Asp134Asn) rs374650566
NM_006270.5(RRAS):c.408C>G (p.Pro136=)
NM_006270.5(RRAS):c.408C>T (p.Pro136=) rs114187560
NM_006270.5(RRAS):c.409G>A (p.Val137Ile) rs757080959
NM_006270.5(RRAS):c.427A>T (p.Lys143Ter) rs896071517
NM_006270.5(RRAS):c.438G>T (p.Leu146=) rs1599813671
NM_006270.5(RRAS):c.448C>T (p.Arg150Cys)
NM_006270.5(RRAS):c.453+7G>A
NM_006270.5(RRAS):c.454-10C>G rs731861
NM_006270.5(RRAS):c.454-6C>T rs1568436933
NM_006270.5(RRAS):c.454-9T>A rs1490597941
NM_006270.5(RRAS):c.454-9T>C rs1490597941
NM_006270.5(RRAS):c.457C>A (p.Pro153Thr) rs1423079476
NM_006270.5(RRAS):c.472_473insTT (p.Ser158fs) rs760978291
NM_006270.5(RRAS):c.492C>T (p.His164=)
NM_006270.5(RRAS):c.495C>T (p.His165=)
NM_006270.5(RRAS):c.496G>A (p.Val166Met)
NM_006270.5(RRAS):c.49G>T (p.Gly17Trp) rs373359206
NM_006270.5(RRAS):c.509A>G (p.Glu170Gly)
NM_006270.5(RRAS):c.515C>T (p.Ser172Leu) rs754342165
NM_006270.5(RRAS):c.516G>C (p.Ser172=) rs199924228
NM_006270.5(RRAS):c.526C>T (p.Arg176Cys)
NM_006270.5(RRAS):c.533A>G (p.Asn178Ser)
NM_006270.5(RRAS):c.534C>T (p.Asn178=)
NM_006270.5(RRAS):c.540C>T (p.Asp180=)
NM_006270.5(RRAS):c.543G>A (p.Glu181=)
NM_006270.5(RRAS):c.54A>T (p.Gly18=) rs571103858
NM_006270.5(RRAS):c.553C>A (p.Gln185Lys)
NM_006270.5(RRAS):c.562C>T (p.Arg188Trp)
NM_006270.5(RRAS):c.568G>C (p.Val190Leu) rs2230917
NM_006270.5(RRAS):c.572G>A (p.Arg191Gln) rs759803129
NM_006270.5(RRAS):c.572G>T (p.Arg191Leu)
NM_006270.5(RRAS):c.598C>T (p.Pro200Ser)
NM_006270.5(RRAS):c.600G>A (p.Pro200=) rs183538580
NM_006270.5(RRAS):c.614C>T (p.Ala205Val)
NM_006270.5(RRAS):c.61C>T (p.Pro21Ser) rs1166281308
NM_006270.5(RRAS):c.623A>G (p.Lys208Arg) rs1568436746
NM_006270.5(RRAS):c.627G>T (p.Lys209Asn)
NM_006270.5(RRAS):c.631G>A (p.Gly211Arg) rs369588682
NM_006270.5(RRAS):c.649C>G (p.Leu217Val) rs988964363
NM_006270.5(RRAS):c.64G>T (p.Gly22Trp) rs754976061
NM_006270.5(RRAS):c.67G>A (p.Asp23Asn)
NM_006270.5(RRAS):c.69C>T (p.Asp23=)
NM_006270.5(RRAS):c.74C>T (p.Pro25Leu) rs558985706
NM_006270.5(RRAS):c.94C>T (p.Leu32=)
NM_006767.4(LZTR1):c.-38T>A rs1459786357
NM_006767.4(LZTR1):c.1018C>T (p.Arg340Ter) rs149850248
NM_006767.4(LZTR1):c.1030del (p.Ser344fs) rs1555928249
NM_006767.4(LZTR1):c.1055A>C (p.Tyr352Ser)
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter) rs189150283
NM_006767.4(LZTR1):c.1234C>T (p.Arg412Cys) rs747430075
NM_006767.4(LZTR1):c.1254G>C (p.Arg418Ser)
NM_006767.4(LZTR1):c.1254G>T (p.Arg418Ser)
NM_006767.4(LZTR1):c.1311G>A (p.Trp437Ter) rs770933647
NM_006767.4(LZTR1):c.1382C>A (p.Ala461Asp) rs1569156890
NM_006767.4(LZTR1):c.1385T>C (p.Ile462Thr) rs147684991
NM_006767.4(LZTR1):c.1407G>A (p.Trp469Ter) rs777243508
NM_006767.4(LZTR1):c.1585T>C (p.Tyr529His) rs767374538
NM_006767.4(LZTR1):c.1605C>A (p.Tyr535Ter)
NM_006767.4(LZTR1):c.1739T>C (p.Leu580Pro) rs1555928697
NM_006767.4(LZTR1):c.1785+1G>C
NM_006767.4(LZTR1):c.1904C>T (p.Pro635Leu) rs148677674
NM_006767.4(LZTR1):c.1943-256C>T rs761685529
NM_006767.4(LZTR1):c.1982G>A (p.Gly661Glu) rs750582696
NM_006767.4(LZTR1):c.2044A>G (p.Lys682Glu) rs758472207
NM_006767.4(LZTR1):c.2070-12C>A
NM_006767.4(LZTR1):c.2173C>T (p.Arg725Cys)
NM_006767.4(LZTR1):c.2178C>A (p.Tyr726Ter) rs1034395178
NM_006767.4(LZTR1):c.2220-17C>A rs1249726034
NM_006767.4(LZTR1):c.2245T>C (p.Tyr749His) rs1601723615
NM_006767.4(LZTR1):c.2246A>G (p.Tyr749Cys) rs755260815
NM_006767.4(LZTR1):c.2264G>A (p.Arg755Gln) rs762834512
NM_006767.4(LZTR1):c.2387T>C (p.Ile796Thr) rs141672122
NM_006767.4(LZTR1):c.2407-2A>G rs1158550690
NM_006767.4(LZTR1):c.2437A>C (p.Ser813Arg)
NM_006767.4(LZTR1):c.2462T>C (p.Ile821Thr) rs1275511136
NM_006767.4(LZTR1):c.2509G>A (p.Gly837Ser)
NM_006767.4(LZTR1):c.271A>G (p.Met91Val) rs1135401945
NM_006767.4(LZTR1):c.272T>C (p.Met91Thr) rs1555927321
NM_006767.4(LZTR1):c.322G>A (p.Ala108Thr)
NM_006767.4(LZTR1):c.360C>A (p.His120Gln) rs1249605552
NM_006767.4(LZTR1):c.361C>G (p.His121Asp) rs1569154492
NM_006767.4(LZTR1):c.510-2A>G rs1458682620
NM_006767.4(LZTR1):c.58G>A (p.Ala20Thr)
NM_006767.4(LZTR1):c.594-3C>T
NM_006767.4(LZTR1):c.628C>T (p.Arg210Ter) rs150419186
NM_006767.4(LZTR1):c.722T>C (p.Phe241Ser)
NM_006767.4(LZTR1):c.740G>A (p.Ser247Asn) rs797045166
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg) rs869320686
NM_006767.4(LZTR1):c.842C>T (p.Pro281Leu) rs1390048261
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln) rs1223430276
NM_006767.4(LZTR1):c.850C>T (p.Arg284Cys) rs797045165
NM_006767.4(LZTR1):c.993+1G>A
NM_006912.6(RIT1):c.104G>C (p.Ser35Thr) rs869025189
NM_006912.6(RIT1):c.106+10A>G rs781557110
NM_006912.6(RIT1):c.107-9C>G rs200597833
NM_006912.6(RIT1):c.112A>G (p.Thr38Ala) rs1557962699
NM_006912.6(RIT1):c.113C>A (p.Thr38Asn)
NM_006912.6(RIT1):c.113C>G (p.Thr38Ser)
NM_006912.6(RIT1):c.116T>A (p.Met39Lys)
NM_006912.6(RIT1):c.131A>T (p.His44Leu)
NM_006912.6(RIT1):c.134G>T (p.Arg45Leu)
NM_006912.6(RIT1):c.13A>T (p.Thr5Ser) rs771768320
NM_006912.6(RIT1):c.140C>T (p.Pro47Leu)
NM_006912.6(RIT1):c.151G>T (p.Asp51Tyr) rs869025190
NM_006912.6(RIT1):c.152A>T (p.Asp51Val)
NM_006912.6(RIT1):c.153T>G (p.Asp51Glu) rs1571999275
NM_006912.6(RIT1):c.163+5G>T
NM_006912.6(RIT1):c.170C>G (p.Ala57Gly) rs672601334
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr) rs869025191
NM_006912.6(RIT1):c.229G>C (p.Ala77Pro) rs869025191
NM_006912.6(RIT1):c.229_234dup (p.Ala77_Gly78dup)
NM_006912.6(RIT1):c.230C>G (p.Ala77Gly)
NM_006912.6(RIT1):c.233G>A (p.Gly78Glu) rs1557960268
NM_006912.6(RIT1):c.235C>G (p.Gln79Glu)
NM_006912.6(RIT1):c.237+10C>A rs367785615
NM_006912.6(RIT1):c.241G>C (p.Glu81Gln) rs869025192
NM_006912.6(RIT1):c.242A>G (p.Glu81Gly) rs869025193
NM_006912.6(RIT1):c.244T>A (p.Phe82Ile) rs869025194
NM_006912.6(RIT1):c.244T>C (p.Phe82Leu) rs869025194
NM_006912.6(RIT1):c.244T>G (p.Phe82Val) rs869025194
NM_006912.6(RIT1):c.245T>C (p.Phe82Ser) rs868208063
NM_006912.6(RIT1):c.246T>A (p.Phe82Leu) rs730881014
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu) rs730881014
NM_006912.6(RIT1):c.247A>C (p.Thr83Pro) rs869025195
NM_006912.6(RIT1):c.251C>T (p.Ala84Val) rs869025196
NM_006912.6(RIT1):c.257G>A (p.Arg86Gln)
NM_006912.6(RIT1):c.265T>C (p.Tyr89His) rs869025197
NM_006912.6(RIT1):c.268A>C (p.Met90Leu)
NM_006912.6(RIT1):c.268A>G (p.Met90Val) rs1557960039
NM_006912.6(RIT1):c.270G>A (p.Met90Ile) rs483352822
NM_006912.6(RIT1):c.270G>C (p.Met90Ile) rs483352822
NM_006912.6(RIT1):c.270G>T (p.Met90Ile) rs483352822
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala) rs672601335
NM_006912.6(RIT1):c.313C>T (p.Arg105Cys)
NM_006912.6(RIT1):c.321T>C (p.Ser107=)
NM_006912.6(RIT1):c.334C>T (p.Arg112Cys) rs375724784
NM_006912.6(RIT1):c.365G>T (p.Arg122Leu) rs777520196
NM_006912.6(RIT1):c.367C>T (p.Arg123Cys)
NM_006912.6(RIT1):c.368G>A (p.Arg123His)
NM_006912.6(RIT1):c.375C>T (p.Asp125=) rs34831194
NM_006912.6(RIT1):c.393T>C (p.Leu131=) rs34974790
NM_006912.6(RIT1):c.430-7C>T rs1749409
NM_006912.6(RIT1):c.461G>A (p.Arg154Gln) rs754596127
NM_006912.6(RIT1):c.498A>C (p.Ala166=)
NM_006912.6(RIT1):c.506A>G (p.Tyr169Cys)
NM_006912.6(RIT1):c.540G>A (p.Arg180=) rs369738767
NM_006912.6(RIT1):c.546A>G (p.Ile182Met)
NM_006912.6(RIT1):c.575C>T (p.Ala192Val) rs376391961
NM_006912.6(RIT1):c.594G>A (p.Lys198=) rs779457410
NM_006912.6(RIT1):c.603C>T (p.Asn201=)
NM_006912.6(RIT1):c.634C>T (p.Arg212Trp) rs563231684
NM_006912.6(RIT1):c.644_647del (p.Lys215fs) rs766063111
NM_006912.6(RIT1):c.649del (p.Ser217fs)
NM_006912.6(RIT1):c.67A>C (p.Lys23Gln) rs869312687
NM_006912.6(RIT1):c.69A>C (p.Lys23Asn) rs1557962794
NM_006912.6(RIT1):c.91G>C (p.Gly31Arg) rs1571999498
NM_006939.4(SOS2):c.1005T>C (p.Tyr335=) rs753698896
NM_006939.4(SOS2):c.1042T>G (p.Cys348Gly)
NM_006939.4(SOS2):c.1071A>G (p.Gln357=) rs111961549
NM_006939.4(SOS2):c.1126A>T (p.Thr376Ser) rs1594982548
NM_006939.4(SOS2):c.1127C>G (p.Thr376Ser) rs869320687
NM_006939.4(SOS2):c.1146A>G (p.Gln382=) rs1178247373
NM_006939.4(SOS2):c.1176T>C (p.Tyr392=) rs1555370242
NM_006939.4(SOS2):c.1181C>T (p.Pro394Leu)
NM_006939.4(SOS2):c.1197-8T>G
NM_006939.4(SOS2):c.1198G>A (p.Asp400Asn) rs200368064
NM_006939.4(SOS2):c.1263T>C (p.Asn421=) rs369267864
NM_006939.4(SOS2):c.1264G>A (p.Glu422Lys)
NM_006939.4(SOS2):c.1266A>C (p.Glu422Asp)
NM_006939.4(SOS2):c.1281C>T (p.Ile427=)
NM_006939.4(SOS2):c.1320T>A (p.Asn440Lys)
NM_006939.4(SOS2):c.1331T>C (p.Met444Thr)
NM_006939.4(SOS2):c.1339C>A (p.Pro447Thr)
NM_006939.4(SOS2):c.133_136del (p.Leu45fs)
NM_006939.4(SOS2):c.1344G>A (p.Leu448=) rs35530861
NM_006939.4(SOS2):c.13C>G (p.Pro5Ala)
NM_006939.4(SOS2):c.1427C>T (p.Thr476Ile)
NM_006939.4(SOS2):c.1429C>T (p.Arg477Trp) rs1555370121
NM_006939.4(SOS2):c.1446T>C (p.Ser482=)
NM_006939.4(SOS2):c.1448G>A (p.Ser483Asn) rs17122201
NM_006939.4(SOS2):c.147A>G (p.Glu49=) rs1030329651
NM_006939.4(SOS2):c.1515T>C (p.Thr505=)
NM_006939.4(SOS2):c.1521G>T (p.Glu507Asp) rs141604342
NM_006939.4(SOS2):c.1567A>G (p.Ile523Val)
NM_006939.4(SOS2):c.1593A>G (p.Glu531=) rs1414010933
NM_006939.4(SOS2):c.1634G>A (p.Arg545His)
NM_006939.4(SOS2):c.1669T>C (p.Leu557=)
NM_006939.4(SOS2):c.1815G>T (p.Val605=)
NM_006939.4(SOS2):c.1839T>C (p.Tyr613=)
NM_006939.4(SOS2):c.1853-10G>A
NM_006939.4(SOS2):c.1859A>G (p.Asn620Ser)
NM_006939.4(SOS2):c.185C>T (p.Ala62Val)
NM_006939.4(SOS2):c.1861T>G (p.Phe621Val) rs1555370029
NM_006939.4(SOS2):c.1868G>A (p.Arg623His) rs138459515
NM_006939.4(SOS2):c.1884A>C (p.Thr628=)
NM_006939.4(SOS2):c.1889G>A (p.Arg630His) rs754778456
NM_006939.4(SOS2):c.1900A>G (p.Lys634Glu)
NM_006939.4(SOS2):c.195G>A (p.Arg65=) rs1803661
NM_006939.4(SOS2):c.1976T>C (p.Leu659Ser)
NM_006939.4(SOS2):c.1989A>G (p.Lys663=)
NM_006939.4(SOS2):c.2010A>G (p.Ala670=)
NM_006939.4(SOS2):c.2014C>A (p.Leu672Ile) rs34139502
NM_006939.4(SOS2):c.2057+19_2057+20del rs111970905
NM_006939.4(SOS2):c.2058-10A>G
NM_006939.4(SOS2):c.2068G>A (p.Val690Ile)
NM_006939.4(SOS2):c.2115C>T (p.Asp705=)
NM_006939.4(SOS2):c.2120A>G (p.Glu707Gly) rs369462490
NM_006939.4(SOS2):c.2128G>C (p.Glu710Gln) rs768829374
NM_006939.4(SOS2):c.213+10A>G
NM_006939.4(SOS2):c.2137G>C (p.Glu713Gln) rs534384816
NM_006939.4(SOS2):c.2154T>C (p.Ser718=) rs568511771
NM_006939.4(SOS2):c.2161+10A>G rs201629454
NM_006939.4(SOS2):c.2162-10C>T rs375702667
NM_006939.4(SOS2):c.2162-4C>A rs57179949
NM_006939.4(SOS2):c.2168C>T (p.Ala723Val) rs1566827698
NM_006939.4(SOS2):c.220G>A (p.Val74Ile)
NM_006939.4(SOS2):c.2217G>A (p.Lys739=) rs186110427
NM_006939.4(SOS2):c.2220A>C (p.Gln740His)
NM_006939.4(SOS2):c.2221G>A (p.Ala741Thr) rs1594973893
NM_006939.4(SOS2):c.2232C>T (p.Asn744=) rs2229869
NM_006939.4(SOS2):c.2246A>G (p.Asn749Ser) rs761689009
NM_006939.4(SOS2):c.2261G>A (p.Ser754Asn) rs181275468
NM_006939.4(SOS2):c.2264C>T (p.Pro755Leu)
NM_006939.4(SOS2):c.2268T>G (p.Pro756=) rs1555369534
NM_006939.4(SOS2):c.2271A>G (p.Pro757=)
NM_006939.4(SOS2):c.2290A>G (p.Ser764Gly)
NM_006939.4(SOS2):c.2304G>T (p.Gln768His) rs778281839
NM_006939.4(SOS2):c.230C>G (p.Thr77Ser)
NM_006939.4(SOS2):c.2312_2313insTGTCCT (p.Phe772_Asp773insValLeu)
NM_006939.4(SOS2):c.2315T>G (p.Phe772Cys)
NM_006939.4(SOS2):c.2317G>C (p.Asp773His) rs114711076
NM_006939.4(SOS2):c.2318A>C (p.Asp773Ala)
NM_006939.4(SOS2):c.2347G>T (p.Ala783Ser)
NM_006939.4(SOS2):c.2366T>C (p.Leu789Ser) rs142863840
NM_006939.4(SOS2):c.2384+5A>G rs376903120
NM_006939.4(SOS2):c.2385-3T>C
NM_006939.4(SOS2):c.2396C>T (p.Pro799Leu) rs773672997
NM_006939.4(SOS2):c.2443A>G (p.Asn815Asp) rs886041958
NM_006939.4(SOS2):c.2520A>G (p.Ala840=) rs775682587
NM_006939.4(SOS2):c.257C>T (p.Ala86Val) rs146272145
NM_006939.4(SOS2):c.2586T>C (p.Asp862=) rs1594969928
NM_006939.4(SOS2):c.2600A>G (p.Asn867Ser) rs561495878
NM_006939.4(SOS2):c.2602G>A (p.Gly868Ser) rs751419448
NM_006939.4(SOS2):c.2604C>T (p.Gly868=) rs765945171
NM_006939.4(SOS2):c.2605G>A (p.Val869Ile) rs373143128
NM_006939.4(SOS2):c.2606T>C (p.Val869Ala) rs750095346
NM_006939.4(SOS2):c.2625A>T (p.Ala875=) rs761442415
NM_006939.4(SOS2):c.2640A>G (p.Ser880=) rs146730136
NM_006939.4(SOS2):c.2646C>T (p.Tyr882=) rs761205651
NM_006939.4(SOS2):c.2657A>G (p.His886Arg)
NM_006939.4(SOS2):c.2668-4T>C rs763298498
NM_006939.4(SOS2):c.2668-5T>C
NM_006939.4(SOS2):c.2700C>T (p.Asp900=)
NM_006939.4(SOS2):c.2707G>A (p.Val903Met)
NM_006939.4(SOS2):c.2712A>G (p.Glu904=) rs143332839
NM_006939.4(SOS2):c.2758A>G (p.Ile920Val) rs755783805
NM_006939.4(SOS2):c.2786-18_2786-17dup
NM_006939.4(SOS2):c.2786-18dup rs201957103
NM_006939.4(SOS2):c.2786-5dup
NM_006939.4(SOS2):c.2786-6T>A rs552609367
NM_006939.4(SOS2):c.2786-6del
NM_006939.4(SOS2):c.2849G>A (p.Gly950Glu)
NM_006939.4(SOS2):c.2854G>A (p.Asp952Asn) rs200387871
NM_006939.4(SOS2):c.290G>A (p.Arg97Gln) rs777574895
NM_006939.4(SOS2):c.294A>G (p.Lys98=) rs149713664
NM_006939.4(SOS2):c.2957G>A (p.Arg986Lys) rs772746106
NM_006939.4(SOS2):c.2969A>G (p.Glu990Gly) rs761320331
NM_006939.4(SOS2):c.2980C>G (p.Pro994Ala)
NM_006939.4(SOS2):c.2981C>G (p.Pro994Arg)
NM_006939.4(SOS2):c.2983A>G (p.Met995Val) rs933544183
NM_006939.4(SOS2):c.2986G>A (p.Gly996Arg)
NM_006939.4(SOS2):c.3066A>G (p.Pro1022=) rs201696354
NM_006939.4(SOS2):c.3075+7C>T rs144391749
NM_006939.4(SOS2):c.3076-3C>T
NM_006939.4(SOS2):c.3076C>T (p.Pro1026Ser) rs201874067
NM_006939.4(SOS2):c.3079A>C (p.Arg1027=)
NM_006939.4(SOS2):c.3088A>G (p.Thr1030Ala) rs550680554
NM_006939.4(SOS2):c.3114A>G (p.Ile1038Met)
NM_006939.4(SOS2):c.3138C>T (p.Gly1046=)
NM_006939.4(SOS2):c.315G>T (p.Leu105=) rs141575190
NM_006939.4(SOS2):c.3172C>T (p.Pro1058Ser)
NM_006939.4(SOS2):c.3190T>C (p.Cys1064Arg)
NM_006939.4(SOS2):c.3235A>G (p.Thr1079Ala) rs61755576
NM_006939.4(SOS2):c.3250A>G (p.Thr1084Ala) rs150752193
NM_006939.4(SOS2):c.3266C>A (p.Pro1089Gln) rs1409054252
NM_006939.4(SOS2):c.3275C>T (p.Pro1092Leu) rs1442962879
NM_006939.4(SOS2):c.3277C>T (p.Pro1093Ser)
NM_006939.4(SOS2):c.3289T>C (p.Ser1097Pro)
NM_006939.4(SOS2):c.3338-4A>G rs777684425
NM_006939.4(SOS2):c.3338-6C>G
NM_006939.4(SOS2):c.3338-8del
NM_006939.4(SOS2):c.3356C>T (p.Ala1119Val)
NM_006939.4(SOS2):c.3360A>C (p.Pro1120=)
NM_006939.4(SOS2):c.3380-3_3380-2del
NM_006939.4(SOS2):c.3383C>G (p.Ser1128Cys) rs1566815476
NM_006939.4(SOS2):c.338C>T (p.Ser113Leu)
NM_006939.4(SOS2):c.339G>A (p.Ser113=)
NM_006939.4(SOS2):c.3403A>G (p.Ser1135Gly) rs375478974
NM_006939.4(SOS2):c.3407T>C (p.Leu1136Ser)
NM_006939.4(SOS2):c.340T>C (p.Leu114=)
NM_006939.4(SOS2):c.3443_3454del (p.Pro1148_Pro1151del)
NM_006939.4(SOS2):c.346-10C>G rs146395803
NM_006939.4(SOS2):c.346-3C>T
NM_006939.4(SOS2):c.3490-13_3490-11dup
NM_006939.4(SOS2):c.3490-13_3490-12dup rs10658395
NM_006939.4(SOS2):c.3490-13dup rs10658395
NM_006939.4(SOS2):c.3490-4del rs10658395
NM_006939.4(SOS2):c.3495T>C (p.Asn1165=)
NM_006939.4(SOS2):c.3503C>A (p.Ser1168Tyr) rs143166880
NM_006939.4(SOS2):c.3520G>A (p.Ala1174Thr)
NM_006939.4(SOS2):c.3530C>T (p.Pro1177Leu) rs1566814839
NM_006939.4(SOS2):c.3540T>G (p.Pro1180=)
NM_006939.4(SOS2):c.3540TCC[4] (p.Pro1183dup) rs765097073
NM_006939.4(SOS2):c.3553G>T (p.Val1185Leu)
NM_006939.4(SOS2):c.3560C>T (p.Pro1187Leu) rs1594951526
NM_006939.4(SOS2):c.3571G>C (p.Val1191Leu)
NM_006939.4(SOS2):c.3573T>G (p.Val1191=)
NM_006939.4(SOS2):c.3584C>T (p.Ala1195Val) rs753151750
NM_006939.4(SOS2):c.3588T>C (p.Phe1196=)
NM_006939.4(SOS2):c.3602A>G (p.His1201Arg)
NM_006939.4(SOS2):c.3614C>T (p.Pro1205Leu) rs113660113
NM_006939.4(SOS2):c.3615G>A (p.Pro1205=)
NM_006939.4(SOS2):c.3644C>G (p.Thr1215Ser)
NM_006939.4(SOS2):c.364G>A (p.Val122Met)
NM_006939.4(SOS2):c.3741C>G (p.Asp1247Glu)
NM_006939.4(SOS2):c.3744G>T (p.Trp1248Cys) rs138133010
NM_006939.4(SOS2):c.3755_3757del (p.Ile1252del) rs775506222
NM_006939.4(SOS2):c.3758G>C (p.Ser1253Thr)
NM_006939.4(SOS2):c.3761C>G (p.Thr1254Arg) rs772587016
NM_006939.4(SOS2):c.3769A>G (p.Asn1257Asp) rs150393358
NM_006939.4(SOS2):c.3774G>A (p.Ser1258=) rs747521589
NM_006939.4(SOS2):c.3781A>C (p.Thr1261Pro) rs1555367637
NM_006939.4(SOS2):c.3788C>G (p.Pro1263Arg)
NM_006939.4(SOS2):c.3813G>A (p.Pro1271=) rs2227276
NM_006939.4(SOS2):c.3818G>A (p.Arg1273Gln)
NM_006939.4(SOS2):c.3830T>C (p.Leu1277Pro) rs146802994
NM_006939.4(SOS2):c.3845A>G (p.Asn1282Ser)
NM_006939.4(SOS2):c.3868C>G (p.Pro1290Ala)
NM_006939.4(SOS2):c.3902A>G (p.His1301Arg)
NM_006939.4(SOS2):c.390T>G (p.Ile130Met)
NM_006939.4(SOS2):c.3944C>T (p.Ser1315Leu)
NM_006939.4(SOS2):c.3952C>T (p.Pro1318Ser) rs140995728
NM_006939.4(SOS2):c.3954A>G (p.Pro1318=)
NM_006939.4(SOS2):c.3957G>T (p.Leu1319Phe)
NM_006939.4(SOS2):c.396T>C (p.Ala132=) rs774402309
NM_006939.4(SOS2):c.3981T>C (p.Asn1327=) rs527576404
NM_006939.4(SOS2):c.3997T>C (p.Ter1333Arg)
NM_006939.4(SOS2):c.399A>C (p.Val133=) rs144584870
NM_006939.4(SOS2):c.432G>A (p.Leu144=) rs1051166055
NM_006939.4(SOS2):c.453T>C (p.Asn151=)
NM_006939.4(SOS2):c.458G>A (p.Arg153Gln)
NM_006939.4(SOS2):c.496A>G (p.Met166Val) rs1555322175
NM_006939.4(SOS2):c.502G>A (p.Ala168Thr)
NM_006939.4(SOS2):c.516G>C (p.Leu172Phe)
NM_006939.4(SOS2):c.523A>C (p.Met175Leu)
NM_006939.4(SOS2):c.530A>G (p.Asp177Gly)
NM_006939.4(SOS2):c.533A>C (p.Gln178Pro) rs1273376869
NM_006939.4(SOS2):c.542T>C (p.Ile181Thr)
NM_006939.4(SOS2):c.549G>C (p.Leu183Phe) rs137961578
NM_006939.4(SOS2):c.572C>A (p.Pro191His)
NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) rs72681869
NM_006939.4(SOS2):c.574A>G (p.Ser192Gly)
NM_006939.4(SOS2):c.584G>C (p.Gly195Ala)
NM_006939.4(SOS2):c.591A>G (p.Leu197=) rs113460230
NM_006939.4(SOS2):c.599A>G (p.Tyr200Cys) rs148595463
NM_006939.4(SOS2):c.600T>C (p.Tyr200=) rs766470992
NM_006939.4(SOS2):c.621C>T (p.Ile207=) rs147109760
NM_006939.4(SOS2):c.622G>A (p.Ala208Thr) rs61755579
NM_006939.4(SOS2):c.622G>T (p.Ala208Ser) rs61755579
NM_006939.4(SOS2):c.643C>T (p.Arg215Trp)
NM_006939.4(SOS2):c.674G>A (p.Arg225Gln) rs780580623
NM_006939.4(SOS2):c.700C>T (p.Leu234=) rs145848231
NM_006939.4(SOS2):c.702G>A (p.Leu234=) rs200208472
NM_006939.4(SOS2):c.709C>A (p.Pro237Thr)
NM_006939.4(SOS2):c.714T>G (p.Ser238=) rs750665891
NM_006939.4(SOS2):c.720C>T (p.Ile240=) rs373852615
NM_006939.4(SOS2):c.721G>A (p.Glu241Lys) rs148747022
NM_006939.4(SOS2):c.753T>C (p.His251=)
NM_006939.4(SOS2):c.780G>T (p.Leu260Phe) rs1348457314
NM_006939.4(SOS2):c.791C>A (p.Thr264Lys) rs1595001710
NM_006939.4(SOS2):c.791C>G (p.Thr264Arg)
NM_006939.4(SOS2):c.798_800delinsCAA (p.Glu266_Met267delinsAspLys)
NM_006939.4(SOS2):c.800T>A (p.Met267Lys) rs797045167
NM_006939.4(SOS2):c.800T>C (p.Met267Thr) rs797045167
NM_006939.4(SOS2):c.800T>G (p.Met267Arg) rs797045167
NM_006939.4(SOS2):c.804T>C (p.Thr268=) rs750437794
NM_006939.4(SOS2):c.811A>G (p.Ser271Gly)
NM_006939.4(SOS2):c.813C>T (p.Ser271=)
NM_006939.4(SOS2):c.816T>C (p.Ser272=) rs35396088
NM_006939.4(SOS2):c.837C>T (p.Ser279=) rs542617984
NM_006939.4(SOS2):c.839G>C (p.Cys280Ser) rs530007285
NM_006939.4(SOS2):c.858+9A>G rs201701595
NM_006939.4(SOS2):c.859-10A>T rs761341096
NM_006939.4(SOS2):c.859-4del
NM_006939.4(SOS2):c.88-6T>C rs12888783
NM_006939.4(SOS2):c.894G>A (p.Gln298=)
NM_006939.4(SOS2):c.940G>A (p.Ala314Thr)
NM_007373.3(SHOC2):c.1231A>G (p.Thr411Ala) rs730881021
NM_007373.3(SHOC2):c.1741A>G (p.Met581Val) rs1470655019
NM_007373.3(SHOC2):c.74A>G (p.Glu25Gly) rs730881019
NM_007373.4(SHOC2):c.1159A>G (p.Lys387Glu)
NM_007373.4(SHOC2):c.1207A>G (p.Ser403Gly)
NM_007373.4(SHOC2):c.1477C>T (p.Leu493Phe)
NM_007373.4(SHOC2):c.187G>A (p.Gly63Arg)
NM_007373.4(SHOC2):c.307A>G (p.Met103Val)
NM_007373.4(SHOC2):c.323C>G (p.Ser108Cys)
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048
NM_007373.4(SHOC2):c.79G>C (p.Glu27Gln)
NM_012250.6(RRAS2):c.208G>A (p.Ala70Thr) rs782457908
NM_012250.6(RRAS2):c.215A>T (p.Gln72Leu) rs113954997
NM_012250.6(RRAS2):c.65_73dup (p.Gly22_Gly24dup) rs1591495776
NM_012250.6(RRAS2):c.68G>T (p.Gly23Val) rs1591495779
NM_012250.6(RRAS2):c.70_78dup (p.Gly24_Gly26dup) rs1591495767
NM_012330.4(KAT6B):c.3399_3402del (p.Arg1133fs) rs1554844486
NM_015330.5(SPECC1L):c.1189A>C (p.Thr397Pro) rs786201030
NM_015330.5(SPECC1L):c.3247G>A (p.Gly1083Ser) rs786201031
NM_015330.6(SPECC1L):c.1967A>C (p.Glu656Ala)
NM_015330.6(SPECC1L):c.2067_2071delinsTTGAAC (p.Ile690_Phe691delinsTer)
NM_015330.6(SPECC1L):c.2473del (p.Met825fs)
NM_015330.6(SPECC1L):c.2999A>T (p.Asp1000Val) rs1601294872
NM_015972.4(POLR1D):c.139G>A (p.Glu47Lys) rs767196650
NM_015972.4(POLR1D):c.152T>G (p.Leu51Arg) rs1593275448
NM_015972.4(POLR1D):c.163C>G (p.Leu55Val) rs587777841
NM_015972.4(POLR1D):c.214A>G (p.Thr72Ala)
NM_015972.4(POLR1D):c.259C>T (p.Arg87Ter) rs1593275599
NM_015972.4(POLR1D):c.262_263dup (p.Thr89fs) rs1593275616
NM_015972.4(POLR1D):c.88_89dup (p.Gln31fs) rs1593275363
NM_019014.6(POLR1B):c.2046T>A (p.Ser682Arg)
NM_019014.6(POLR1B):c.3007C>A (p.Arg1003Ser)
NM_019014.6(POLR1B):c.3007C>T (p.Arg1003Cys)
NM_022464.5(SIL1):c.*105C>T
NM_022464.5(SIL1):c.*265C>G
NM_022464.5(SIL1):c.*30C>T
NM_022464.5(SIL1):c.*349T>C
NM_022464.5(SIL1):c.*68del
NM_022464.5(SIL1):c.*80G>C
NM_022464.5(SIL1):c.-106G>C
NM_022464.5(SIL1):c.-1T>C
NM_022464.5(SIL1):c.-29C>G
NM_022464.5(SIL1):c.-6C>G rs11555154
NM_022464.5(SIL1):c.-92T>A
NM_022464.5(SIL1):c.-94G>C
NM_022464.5(SIL1):c.-98C>T
NM_022464.5(SIL1):c.1008C>G (p.Leu336=)
NM_022464.5(SIL1):c.1012G>A (p.Asp338Asn)
NM_022464.5(SIL1):c.1017G>C (p.Leu339=)
NM_022464.5(SIL1):c.1029+1G>A
NM_022464.5(SIL1):c.1029+6T>C rs57028146
NM_022464.5(SIL1):c.1030-14G>A rs184154914
NM_022464.5(SIL1):c.1038C>T (p.Ala346=)
NM_022464.5(SIL1):c.1039G>A (p.Glu347Lys) rs73265454
NM_022464.5(SIL1):c.1060C>T (p.Gln354Ter)
NM_022464.5(SIL1):c.1085A>T (p.Gln362Leu)
NM_022464.5(SIL1):c.1093C>T (p.Arg365Cys)
NM_022464.5(SIL1):c.1117del (p.Leu373fs)
NM_022464.5(SIL1):c.1120T>C (p.Trp374Arg) rs1021273983
NM_022464.5(SIL1):c.1122G>C (p.Trp374Cys)
NM_022464.5(SIL1):c.1160C>T (p.Ala387Val)
NM_022464.5(SIL1):c.1161G>A (p.Ala387=) rs140171020
NM_022464.5(SIL1):c.1167C>T (p.Pro389=) rs199890503
NM_022464.5(SIL1):c.1206C>T (p.Gly402=) rs146164392
NM_022464.5(SIL1):c.1231C>T (p.Arg411Cys)
NM_022464.5(SIL1):c.1232G>A (p.Arg411His) rs192255604
NM_022464.5(SIL1):c.1238G>A (p.Arg413His)
NM_022464.5(SIL1):c.1279G>T (p.Ala427Ser)
NM_022464.5(SIL1):c.1282G>C (p.Glu428Gln) rs761095369
NM_022464.5(SIL1):c.1286A>T (p.Tyr429Phe)
NM_022464.5(SIL1):c.1312C>T (p.Gln438Ter) rs119456966
NM_022464.5(SIL1):c.1321G>A (p.Glu441Lys) rs779649580
NM_022464.5(SIL1):c.1321G>T (p.Glu441Ter)
NM_022464.5(SIL1):c.132G>A (p.Glu44=)
NM_022464.5(SIL1):c.1351G>A (p.Gly451Ser) rs34214251
NM_022464.5(SIL1):c.1370T>C (p.Leu457Pro)
NM_022464.5(SIL1):c.152C>T (p.Thr51Ile) rs144192049
NM_022464.5(SIL1):c.153A>G (p.Thr51=) rs3088052
NM_022464.5(SIL1):c.158_159del (p.Arg53fs)
NM_022464.5(SIL1):c.164A>G (p.Glu55Gly)
NM_022464.5(SIL1):c.189T>G (p.Asp63Glu) rs115591710
NM_022464.5(SIL1):c.191C>T (p.Ala64Val)
NM_022464.5(SIL1):c.192C>T (p.Ala64=) rs148651377
NM_022464.5(SIL1):c.196G>A (p.Val66Ile)
NM_022464.5(SIL1):c.232G>T (p.Ala78Ser)
NM_022464.5(SIL1):c.239A>G (p.Gln80Arg) rs35581768
NM_022464.5(SIL1):c.274C>T (p.Arg92Trp) rs149242794
NM_022464.5(SIL1):c.331C>T (p.Arg111Ter)
NM_022464.5(SIL1):c.368C>T (p.Thr123Ile) rs115800498
NM_022464.5(SIL1):c.394A>C (p.Lys132Gln) rs61745568
NM_022464.5(SIL1):c.454-6C>T rs58624842
NM_022464.5(SIL1):c.458G>C (p.Arg153Thr)
NM_022464.5(SIL1):c.487C>T (p.Pro163Ser)
NM_022464.5(SIL1):c.506_509dup (p.Asp170fs)
NM_022464.5(SIL1):c.573G>A (p.Lys191=) rs148927511
NM_022464.5(SIL1):c.603_607del (p.Glu201fs)
NM_022464.5(SIL1):c.615G>A (p.Ala205=)
NM_022464.5(SIL1):c.624T>A (p.Asp208Glu)
NM_022464.5(SIL1):c.644A>G (p.Gln215Arg)
NM_022464.5(SIL1):c.645+15C>T
NM_022464.5(SIL1):c.645+1G>A
NM_022464.5(SIL1):c.645+2T>C
NM_022464.5(SIL1):c.699T>C (p.Asn233=) rs140891877
NM_022464.5(SIL1):c.724G>A (p.Val242Met) rs545999438
NM_022464.5(SIL1):c.741G>A (p.Ala247=) rs773520401
NM_022464.5(SIL1):c.753C>T (p.Gly251=)
NM_022464.5(SIL1):c.810G>A (p.Leu270=) rs1244661386
NM_022464.5(SIL1):c.819G>A (p.Leu273=) rs778802859
NM_022464.5(SIL1):c.865-7C>T rs141796576
NM_022464.5(SIL1):c.900C>T (p.Phe300=) rs35080367
NM_022464.5(SIL1):c.902C>T (p.Pro301Leu)
NM_022464.5(SIL1):c.930C>T (p.Leu310=)
NM_022464.5(SIL1):c.933G>A (p.Gly311=) rs61744666
NM_022464.5(SIL1):c.936dup (p.Leu313fs)
NM_022464.5(SIL1):c.938T>C (p.Leu313Pro)
NM_022464.5(SIL1):c.947dup (p.Arg317fs)
NM_022464.5(SIL1):c.984C>T (p.Leu328=) rs368666457
NM_022464.5(SIL1):c.985G>A (p.Ala329Thr)
NM_023067.3(FOXL2):c.661GCN[15_24] (p.Ala221[(15_24)])
NM_023067.4(FOXL2):c.1011del (p.Thr338fs) rs1057516185
NM_023067.4(FOXL2):c.102dup (p.Gly35fs) rs1553752945
NM_023067.4(FOXL2):c.1103del (p.Gly368fs) rs1559921677
NM_023067.4(FOXL2):c.142_173delinsGCGCT (p.Lys48_Ser58delinsAlaLeu) rs672601357
NM_023067.4(FOXL2):c.15C>A (p.Tyr5Ter) rs1057516139
NM_023067.4(FOXL2):c.160A>G (p.Lys54Glu) rs1559922657
NM_023067.4(FOXL2):c.169T>A (p.Tyr57Asn) rs1559922647
NM_023067.4(FOXL2):c.171C>G (p.Tyr57Ter) rs1057516141
NM_023067.4(FOXL2):c.173C>A (p.Ser58Ter) rs1057516142
NM_023067.4(FOXL2):c.173C>G (p.Ser58Trp) rs1057516142
NM_023067.4(FOXL2):c.174_186del (p.Tyr59fs) rs1559922628
NM_023067.4(FOXL2):c.175T>G (p.Tyr59Asp) rs1559922634
NM_023067.4(FOXL2):c.178_192dup (p.Val60_Ala64dup) rs863225452
NM_023067.4(FOXL2):c.184_198dup (p.Leu62_Ala66dup) rs1057516143
NM_023067.4(FOXL2):c.187A>C (p.Ile63Leu) rs1057516144
NM_023067.4(FOXL2):c.188T>A (p.Ile63Asn) rs1315073489
NM_023067.4(FOXL2):c.18del (p.Glu7fs) rs1559922829
NM_023067.4(FOXL2):c.193A>G (p.Met65Val) rs1559922621
NM_023067.4(FOXL2):c.195G>A (p.Met65Ile) rs1057516145
NM_023067.4(FOXL2):c.205G>T (p.Glu69Ter) rs387906920
NM_023067.4(FOXL2):c.208A>G (p.Ser70Gly) rs1057516146
NM_023067.4(FOXL2):c.230T>C (p.Leu77Pro) rs1559922577
NM_023067.4(FOXL2):c.233C>A (p.Ser78Tyr) rs1057516147
NM_023067.4(FOXL2):c.256G>C (p.Ala86Pro) rs1057516148
NM_023067.4(FOXL2):c.262T>A (p.Phe88Ile) rs1559922558
NM_023067.4(FOXL2):c.266C>A (p.Pro89Gln) rs1226344391
NM_023067.4(FOXL2):c.266C>G (p.Pro89Arg) rs1226344391
NM_023067.4(FOXL2):c.292T>C (p.Trp98Arg) rs1057516149
NM_023067.4(FOXL2):c.293G>A (p.Trp98Ter) rs1057516150
NM_023067.4(FOXL2):c.298A>G (p.Asn100Asp) rs1559922528
NM_023067.4(FOXL2):c.303C>G (p.Ser101Arg) rs1057516151
NM_023067.4(FOXL2):c.308G>A (p.Arg103His) rs1057516152
NM_023067.4(FOXL2):c.308G>T (p.Arg103Leu) rs1057516152
NM_023067.4(FOXL2):c.311A>G (p.His104Arg) rs1057516153
NM_023067.4(FOXL2):c.313_315del (p.Asn105del) rs1057516154
NM_023067.4(FOXL2):c.314_319del (p.Asn105_Leu106del) rs1057516155
NM_023067.4(FOXL2):c.316C>T (p.Leu106Phe) rs1057516156
NM_023067.4(FOXL2):c.319A>G (p.Ser107Gly) rs1057516157
NM_023067.4(FOXL2):c.335TCA[1] (p.Ile113del) rs1559922498
NM_023067.4(FOXL2):c.338del (p.Ile113fs) rs1057516158
NM_023067.4(FOXL2):c.340A>G (p.Lys114Glu) rs1057516159
NM_023067.4(FOXL2):c.353_476dup (p.His159fs) rs1553752890
NM_023067.4(FOXL2):c.377_380dup (p.Tyr127Ter) rs1559922476
NM_023067.4(FOXL2):c.384G>A (p.Trp128Ter) rs1559922472
NM_023067.4(FOXL2):c.384del (p.Tyr127_Trp128insTer) rs1559922473
NM_023067.4(FOXL2):c.387del (p.Leu130fs) rs1559922470
NM_023067.4(FOXL2):c.389T>A (p.Leu130Gln) rs1057516160
NM_023067.4(FOXL2):c.389T>C (p.Leu130Pro) rs1057516160
NM_023067.4(FOXL2):c.399del (p.Cys134fs) rs1559922462
NM_023067.4(FOXL2):c.43del (p.Leu15fs) rs1057516140
NM_023067.4(FOXL2):c.445_469dup (p.Pro157fs) rs1559922381
NM_023067.4(FOXL2):c.490A>T (p.Lys164Ter) rs1060499717
NM_023067.4(FOXL2):c.501C>T (p.Phe167=) rs61750361
NM_023067.4(FOXL2):c.525del (p.Cys176fs) rs1559922308
NM_023067.4(FOXL2):c.52_53del (p.Pro18fs) rs1559922782
NM_023067.4(FOXL2):c.536C>G (p.Ala179Gly) rs7432551
NM_023067.4(FOXL2):c.549dup (p.Asp184fs) rs1559922261
NM_023067.4(FOXL2):c.551dup (p.Asp184fs) rs1559922257
NM_023067.4(FOXL2):c.55G>T (p.Glu19Ter) rs759236439
NM_023067.4(FOXL2):c.560G>A (p.Gly187Asp) rs121908359
NM_023067.4(FOXL2):c.576dup (p.Lys193fs) rs1057516161
NM_023067.4(FOXL2):c.578A>G (p.Lys193Arg) rs1057516162
NM_023067.4(FOXL2):c.582C>G (p.Tyr194Ter) rs1057516163
NM_023067.4(FOXL2):c.586C>T (p.Gln196Ter) rs104893739
NM_023067.4(FOXL2):c.612G>A (p.Trp204Ter) rs1057516164
NM_023067.4(FOXL2):c.618del (p.Pro207fs) rs1057516165
NM_023067.4(FOXL2):c.630_651dup (p.Cys218fs) rs1057516166
NM_023067.4(FOXL2):c.632C>A (p.Ser211Ter) rs1057516167
NM_023067.4(FOXL2):c.644A>G (p.Tyr215Cys) rs1057516168
NM_023067.4(FOXL2):c.647C>T (p.Ala216Val) rs565208053
NM_023067.4(FOXL2):c.650C>T (p.Ser217Phe) rs797044527
NM_023067.4(FOXL2):c.655C>T (p.Gln219Ter) rs104893741
NM_023067.4(FOXL2):c.656A>T (p.Gln219Leu) rs1057516169
NM_023067.4(FOXL2):c.661_702= (p.Ala221_Ala234=)
NM_023067.4(FOXL2):c.662_689del (p.Ala221fs) rs1057516170
NM_023067.4(FOXL2):c.663_692dup (p.Ala225_Ala234dup) rs764243782
NM_023067.4(FOXL2):c.669_681del (p.Ala224fs) rs1559922136
NM_023067.4(FOXL2):c.672_701dup (p.Ala225_Ala234dup) rs387906321
NM_023067.4(FOXL2):c.674_695del (p.Ala225fs) rs1057516172
NM_023067.4(FOXL2):c.674_703dup (p.Ala225_Ala234dup) rs1057516173
NM_023067.4(FOXL2):c.675_769dup (p.Pro257fs) rs1559922033
NM_023067.4(FOXL2):c.678_705del (p.Ala227fs) rs1057516174
NM_023067.4(FOXL2):c.700_701insAGCGGCTGCAGCAGCTGCGGCTGCAGCCGC (p.Ala234delinsGluArgLeuGlnGlnLeuArgLeuGlnProPro) rs1553752849
NM_023067.4(FOXL2):c.718G>T (p.Gly240Cys) rs767088367
NM_023067.4(FOXL2):c.748_749del (p.Gly250fs) rs1057516175
NM_023067.4(FOXL2):c.772T>A (p.Tyr258Asn) rs28937885
NM_023067.4(FOXL2):c.773del (p.Tyr258fs) rs1559922026
NM_023067.4(FOXL2):c.777dup (p.Arg260fs) rs1057516176
NM_023067.4(FOXL2):c.784C>T (p.Gln262Ter) rs1559922013
NM_023067.4(FOXL2):c.799C>A (p.Pro267Thr) rs753641620
NM_023067.4(FOXL2):c.804del (p.Gly269fs) rs797044528
NM_023067.4(FOXL2):c.804dup (p.Gly269fs) rs797044528
NM_023067.4(FOXL2):c.818C>A (p.Ser273Ter) rs1559921973
NM_023067.4(FOXL2):c.827dup (p.Leu277fs) rs1057516178
NM_023067.4(FOXL2):c.840_871del (p.Ala283fs) rs1057516179
NM_023067.4(FOXL2):c.841_842insT (p.Pro281fs) rs1559921944
NM_023067.4(FOXL2):c.841_857dup (p.Pro287fs) rs797044529
NM_023067.4(FOXL2):c.843_859dup (p.Pro287fs) rs672601359
NM_023067.4(FOXL2):c.843_865dup (p.His289fs) rs797044530
NM_023067.4(FOXL2):c.854del (p.Pro285fs) rs797044531
NM_023067.4(FOXL2):c.855_871del (p.Pro287fs) rs797044532
NM_023067.4(FOXL2):c.855_871dup (p.His291fs) rs797044532
NM_023067.4(FOXL2):c.856_857delinsA (p.Pro286fs) rs1057516180
NM_023067.4(FOXL2):c.892dup (p.His298fs) rs1057516181
NM_023067.4(FOXL2):c.901_911dup (p.Pro305fs) rs1559921874
NM_023067.4(FOXL2):c.907_926dup (p.His312fs) rs1057516182
NM_023067.4(FOXL2):c.935_997delinsGGCGGCGGCG (p.His312fs) rs1559921800
NM_023067.4(FOXL2):c.937_944dup (p.Ala316fs) rs1559921849
NM_023067.4(FOXL2):c.948_955del (p.Pro317fs) rs1576469579
NM_023067.4(FOXL2):c.951_961dup (p.Gln321fs) rs1057516183
NM_023067.4(FOXL2):c.965_983dup (p.Thr329fs) rs672601358
NM_023067.4(FOXL2):c.982del (p.Ala328fs) rs1057516184
NM_023067.4(FOXL2):c.998dup (p.Ala334fs) rs1559921797
NM_030662.3(MAP2K2):c.26T>C (p.Leu9Pro) rs758307267
NM_030662.3(MAP2K2):c.325C>G (p.Pro109Ala) rs1060502983
NM_030662.3(MAP2K2):c.46C>A (p.Pro16Thr) rs904859028
NM_030662.3(MAP2K2):c.523A>G (p.Ile175Val) rs373325880
NM_030662.4(MAP2K2):c.1109A>G (p.Lys370Arg) rs1599278009
NM_030662.4(MAP2K2):c.1162C>T (p.Arg388Trp) rs144383241
NM_030662.4(MAP2K2):c.1187C>T (p.Thr396Met) rs117945277
NM_030662.4(MAP2K2):c.149A>G (p.Gln50Arg) rs1599307416
NM_030662.4(MAP2K2):c.401A>G (p.Tyr134Cys) rs727504370
NM_030662.4(MAP2K2):c.619G>A (p.Glu207Lys) rs727504382
NM_030662.4(MAP2K2):c.640G>A (p.Gly214Arg)
NM_030662.4(MAP2K2):c.643G>T (p.Val215Leu)
NM_030662.4(MAP2K2):c.844C>T (p.Pro282Ser) rs142307980
NM_030662.4(MAP2K2):c.853G>A (p.Asp285Asn) rs150369301
NM_030662.4(MAP2K2):c.938G>A (p.Arg313Gln) rs151133017
NM_033360.4(KRAS):c.*101_*106del rs1339924833
NM_033360.4(KRAS):c.*1094G>T rs61763590
NM_033360.4(KRAS):c.*1183G>A rs61763591
NM_033360.4(KRAS):c.*1204A>G rs7960917
NM_033360.4(KRAS):c.*1326C>T rs574966178
NM_033360.4(KRAS):c.*1539_*1541del rs200038818
NM_033360.4(KRAS):c.*1622G>A rs886049194
NM_033360.4(KRAS):c.*1661T>C rs61764366
NM_033360.4(KRAS):c.*16T>C rs779184057
NM_033360.4(KRAS):c.*1708T>C rs7973450
NM_033360.4(KRAS):c.*1748dup rs71065923
NM_033360.4(KRAS):c.*1752A>G rs763217196
NM_033360.4(KRAS):c.*1758_*1759del rs535478558
NM_033360.4(KRAS):c.*1759A>G rs4597149
NM_033360.4(KRAS):c.*1776C>T rs7973623
NM_033360.4(KRAS):c.*1777A>G rs886049193
NM_033360.4(KRAS):c.*180A>G rs886049198
NM_033360.4(KRAS):c.*1826C>G rs539213224
NM_033360.4(KRAS):c.*1831G>A rs531344668
NM_033360.4(KRAS):c.*1886T>C rs115968671
NM_033360.4(KRAS):c.*1893A>G rs886049192
NM_033360.4(KRAS):c.*1967del rs886049191
NM_033360.4(KRAS):c.*2012T>C rs886049190
NM_033360.4(KRAS):c.*2305A>G rs61764368
NM_033360.4(KRAS):c.*2360A>G rs886049189
NM_033360.4(KRAS):c.*2391_*2392insC rs886049188
NM_033360.4(KRAS):c.*2400dup rs56128001
NM_033360.4(KRAS):c.*2446G>A rs886049187
NM_033360.4(KRAS):c.*2492C>T rs61764369
NM_033360.4(KRAS):c.*2577G>A rs886049186
NM_033360.4(KRAS):c.*2605G>A rs779071703
NM_033360.4(KRAS):c.*2626T>G rs61764370
NM_033360.4(KRAS):c.*2815C>T rs886049185
NM_033360.4(KRAS):c.*297C>T rs886049197
NM_033360.4(KRAS):c.*298T>G rs712
NM_033360.4(KRAS):c.*3009A>G rs13096
NM_033360.4(KRAS):c.*3092_*3095del rs886049184
NM_033360.4(KRAS):c.*314C>T rs150334904
NM_033360.4(KRAS):c.*3269C>T rs886049183
NM_033360.4(KRAS):c.*3273G>A rs61764371
NM_033360.4(KRAS):c.*3323T>C rs886049182
NM_033360.4(KRAS):c.*3385del rs34176876
NM_033360.4(KRAS):c.*3498C>T rs1137188
NM_033360.4(KRAS):c.*3522T>A rs1137189
NM_033360.4(KRAS):c.*3575T>C rs749403585
NM_033360.4(KRAS):c.*3620C>T rs886049181
NM_033360.4(KRAS):c.*3623T>A rs61764372
NM_033360.4(KRAS):c.*3672C>G rs188922523
NM_033360.4(KRAS):c.*3766A>G rs529959450
NM_033360.4(KRAS):c.*3803_*3804dup rs142323886
NM_033360.4(KRAS):c.*3804dup rs142323886
NM_033360.4(KRAS):c.*3875_*3878del rs886049180
NM_033360.4(KRAS):c.*3881A>C rs1137196
NM_033360.4(KRAS):c.*3907A>G rs8720
NM_033360.4(KRAS):c.*4022A>C rs12587
NM_033360.4(KRAS):c.*4036A>G rs886049179
NM_033360.4(KRAS):c.*4186_*4187del rs34719539
NM_033360.4(KRAS):c.*4187del rs34719539
NM_033360.4(KRAS):c.*4195G>A rs886049177
NM_033360.4(KRAS):c.*4200T>A rs12245
NM_033360.4(KRAS):c.*4426_*4427dup rs61764373
NM_033360.4(KRAS):c.*4432A>G rs61764374
NM_033360.4(KRAS):c.*44C>T rs1555192443
NM_033360.4(KRAS):c.*4549G>C rs545014897
NM_033360.4(KRAS):c.*4604G>A rs577486152
NM_033360.4(KRAS):c.*4619T>C rs768891600
NM_033360.4(KRAS):c.*4643G>A rs886049176
NM_033360.4(KRAS):c.*491C>G rs886049196
NM_033360.4(KRAS):c.*525T>C rs140080026
NM_033360.4(KRAS):c.*633T>C rs9266
NM_033360.4(KRAS):c.*659del rs756307694
NM_033360.4(KRAS):c.*671C>T rs566222739
NM_033360.4(KRAS):c.*886A>G rs886049195
NM_033360.4(KRAS):c.*945T>C rs61763589
NM_033360.4(KRAS):c.*986T>C rs559143985
NM_033360.4(KRAS):c.*9T>G rs104894367
NM_033360.4(KRAS):c.-128C>G rs886049199
NM_033360.4(KRAS):c.-176_-174CGG[4] rs886049200
NM_033360.4(KRAS):c.-180G>A rs886049201
NM_033360.4(KRAS):c.112-5C>T rs376520586
NM_033360.4(KRAS):c.15A>T (p.Lys5Asn) rs104894361
NM_033360.4(KRAS):c.178G>A (p.Gly60Ser) rs104894359
NM_033360.4(KRAS):c.194G>T (p.Ser65Ile) rs1555194026
NM_033360.4(KRAS):c.347A>G (p.Asn116Ser) rs202247812
NM_033360.4(KRAS):c.355G>A (p.Asp119Asn) rs730880471
NM_033360.4(KRAS):c.389C>T (p.Ala130Val) rs730880473
NM_033360.4(KRAS):c.440A>G (p.Lys147Arg) rs1135401776
NM_144670.6(A2ML1):c.1417G>T (p.Asp473Tyr) rs201950472
NM_144670.6(A2ML1):c.2405G>A (p.Arg802His) rs201562272
NM_144670.6(A2ML1):c.3397A>C (p.Asn1133His) rs1466413438
NM_152594.3(SPRED1):c.1225_1226delinsTT (p.Ala409Phe) rs1566877075
NM_152594.3(SPRED1):c.1285T>C (p.Cys429Arg)
NM_152594.3(SPRED1):c.282T>G (p.Ile94Met)
NM_152594.3(SPRED1):c.47G>A (p.Arg16Gln)
NM_152594.3(SPRED1):c.535G>A (p.Glu179Lys)
NM_152594.3(SPRED1):c.836G>A (p.Ser279Asn)
NM_152594.3(SPRED1):c.854C>T (p.Pro285Leu)
NM_152594.3(SPRED1):c.997T>G (p.Ser333Ala)
NM_203290.4(POLR1C):c.*105G>C
NM_203290.4(POLR1C):c.*166C>T
NM_203290.4(POLR1C):c.*30T>C rs185499373
NM_203290.4(POLR1C):c.-15G>A
NM_203290.4(POLR1C):c.-21A>G rs190872536
NM_203290.4(POLR1C):c.-4G>A rs2231756
NM_203290.4(POLR1C):c.-8G>A
NM_203290.4(POLR1C):c.229C>T (p.Arg77Ter) rs886061427
NM_203290.4(POLR1C):c.325C>T (p.Arg109Cys) rs1255115751
NM_203290.4(POLR1C):c.326G>A (p.Arg109His) rs796052127
NM_203290.4(POLR1C):c.34A>G (p.Ser12Gly)
NM_203290.4(POLR1C):c.364T>A (p.Phe122Ile) rs1554131502
NM_203290.4(POLR1C):c.374G>A (p.Arg125Gln)
NM_203290.4(POLR1C):c.395G>A (p.Gly132Asp) rs201320592
NM_203290.4(POLR1C):c.421C>T (p.Arg141Cys) rs148385032
NM_203290.4(POLR1C):c.443G>A (p.Arg148Gln) rs144195949
NM_203290.4(POLR1C):c.480C>T (p.Asn160=)
NM_203290.4(POLR1C):c.489C>T (p.Tyr163=) rs187997427
NM_203290.4(POLR1C):c.490G>A (p.Val164Met)
NM_203290.4(POLR1C):c.525del (p.Thr174_Trp175insTer) rs780663139
NM_203290.4(POLR1C):c.561G>A (p.Glu187=) rs145813943
NM_203290.4(POLR1C):c.585T>C (p.Asp195=)
NM_203290.4(POLR1C):c.598G>A (p.Ala200Thr) rs148979835
NM_203290.4(POLR1C):c.616del (p.Gln206fs) rs1156407486
NM_203290.4(POLR1C):c.634A>G (p.Met212Val) rs79222964
NM_203290.4(POLR1C):c.639C>G (p.His213Gln)
NM_203290.4(POLR1C):c.656-9C>T rs113383614
NM_203290.4(POLR1C):c.70-7G>C rs886061425
NM_203290.4(POLR1C):c.70G>A (p.Val24Ile)
NM_203290.4(POLR1C):c.771C>T (p.Phe257=) rs776376952
NM_203290.4(POLR1C):c.809A>T (p.Lys270Ile) rs745835548
NM_203290.4(POLR1C):c.835C>T (p.Arg279Trp) rs141156009
NM_203290.4(POLR1C):c.836G>A (p.Arg279Gln) rs191582628
NM_203290.4(POLR1C):c.845C>G (p.Thr282Ser)
NM_203290.4(POLR1C):c.88C>T (p.Pro30Ser) rs1057519455
NM_203290.4(POLR1C):c.913C>A (p.His305Asn) rs886061428
NM_203290.4(POLR1C):c.938C>T (p.Thr313Met) rs181576159
NM_203290.4(POLR1C):c.979A>T (p.Lys327Ter) rs387907020
POLR1C, 1-BP DEL, 87T
POLR1C, IVS8, 4-BP DEL, +3
POLR1D, 2-BP DEL, 326CA
Single allele
nsv1197592

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