ClinVar Miner

List of variants studied for canthal anomaly by Invitae

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 802
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HGVS dbSNP
NC_000001.10:g.(?_155870159)_(155880696_?)dup
NC_000001.10:g.(?_155874092)_(155880686_?)dup
NC_000001.10:g.(?_155880221)_(156109650_?)del
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_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_000014.8:g.(?_50092240)_(50698021_?)dup
NC_000014.9:g.(?_50188487)_(50204419_?)dup
NM_000356.4(TCOF1):c.1047+1G>A rs886041506
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.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.1440T>C (p.Asp480=) rs142758482
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.162A>G (p.Gln54=) rs73270831
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.1915_1916del (p.Lys639fs) rs1554137419
NM_000356.4(TCOF1):c.2014C>T (p.Pro672Ser) rs73270846
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.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.2902dup (p.Glu968fs) rs1554078461
NM_000356.4(TCOF1):c.295G>A (p.Ala99Thr) rs112332762
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.3370-3C>T rs11743855
NM_000356.4(TCOF1):c.3389T>A (p.Met1130Lys) rs139081024
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.3557_3558del (p.Lys1186fs) rs1581223107
NM_000356.4(TCOF1):c.3652A>G (p.Ile1218Val) rs1297478685
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.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.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.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.4224G>A (p.Glu1408=) rs116268092
NM_000356.4(TCOF1):c.449A>G (p.Asn150Ser) rs141805606
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.768G>A (p.Gly256=) rs55918703
NM_000356.4(TCOF1):c.797G>A (p.Ser266Asn) rs144327167
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_001163817.2(DHCR7):c.1012G>A (p.Val338Met) rs72954276
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.296T>C (p.Leu99Pro) rs104886041
NM_001163817.2(DHCR7):c.725G>A (p.Arg242His) rs80338857
NM_001163817.2(DHCR7):c.964-1G>T rs138659167
NM_001360.2(DHCR7):c.1008C>T (p.His336=) rs75225632
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.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.1091C>T (p.Thr364Met) rs567600444
NM_001360.2(DHCR7):c.1092G>A (p.Thr364=) rs35946774
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.1210C>T (p.Arg404Cys) rs61757582
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.123G>A (p.Ala41=) rs376263149
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.131T>C (p.Ile44Thr) rs142897396
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.1348del (p.Arg450fs) rs886042362
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.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.1410G>A (p.Leu470=) rs375993195
NM_001360.2(DHCR7):c.1426T>C (p.Ter476Gln) rs775034584
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.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.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.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.375C>T (p.Tyr125=) rs779401555
NM_001360.2(DHCR7):c.385_412+5del rs746482788
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.412+3A>G rs786200926
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.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.506C>T (p.Ser169Leu) rs80338855
NM_001360.2(DHCR7):c.522C>T (p.Phe174=) rs140648594
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.627-1G>A rs1057517210
NM_001360.2(DHCR7):c.651C>A (p.Tyr217Ter) rs749076525
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.771G>A (p.Ala257=) rs200232012
NM_001360.2(DHCR7):c.795T>C (p.His265=) rs1472363309
NM_001360.2(DHCR7):c.831+2T>A rs1057516920
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.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.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.927C>A (p.Gly309=) rs149974099
NM_001360.2(DHCR7):c.957G>A (p.Thr319=) rs200157761
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.987C>T (p.Pro329=) rs145901607
NM_001360.2(DHCR7):c.988G>A (p.Val330Met) rs139724817
NM_001360.2(DHCR7):c.99-4G>A rs140748737
NM_001360.2(DHCR7):c.99-5C>T rs372886043
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.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.1146C>T (p.Tyr382=)
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.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>T (p.Tyr430=)
NM_001360.3(DHCR7):c.1295A>G (p.Tyr432Cys)
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.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.237T>C (p.His79=)
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.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.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.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.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.627-4T>A
NM_001360.3(DHCR7):c.627-9A>G
NM_001360.3(DHCR7):c.654C>A (p.Asn218Lys)
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.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.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.939G>C (p.Trp313Cys)
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.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_001371623.1(TCOF1):c.1021_1022del (p.Ser341fs)
NM_001371623.1(TCOF1):c.109-3del
NM_001371623.1(TCOF1):c.117C>A (p.Phe39Leu)
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.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.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.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.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.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.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.4210_4214del (p.Lys1404fs)
NM_001371623.1(TCOF1):c.4248C>T (p.Asp1416=) rs141159244
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.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_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_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>G (p.Thr38Ser)
NM_006912.6(RIT1):c.116T>A (p.Met39Lys)
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.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.237+10C>A rs367785615
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>G (p.Phe82Val) rs869025194
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>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.284G>C (p.Gly95Ala) rs672601335
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.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_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.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.133_136del (p.Leu45fs)
NM_006939.4(SOS2):c.1344G>A (p.Leu448=) rs35530861
NM_006939.4(SOS2):c.1427C>T (p.Thr476Ile)
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.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.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.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.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.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.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.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.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.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.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.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.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.800T>A (p.Met267Lys) 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_022464.5(SIL1):c.1008C>G (p.Leu336=)
NM_022464.5(SIL1):c.1029+6T>C rs57028146
NM_022464.5(SIL1):c.1038C>T (p.Ala346=)
NM_022464.5(SIL1):c.1039G>A (p.Glu347Lys) rs73265454
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.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.1351G>A (p.Gly451Ser) rs34214251
NM_022464.5(SIL1):c.153A>G (p.Thr51=) rs3088052
NM_022464.5(SIL1):c.189T>G (p.Asp63Glu) rs115591710
NM_022464.5(SIL1):c.192C>T (p.Ala64=) rs148651377
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.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.573G>A (p.Lys191=) rs148927511
NM_022464.5(SIL1):c.624T>A (p.Asp208Glu)
NM_022464.5(SIL1):c.644A>G (p.Gln215Arg)
NM_022464.5(SIL1):c.699T>C (p.Asn233=) rs140891877
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.947dup (p.Arg317fs)
NM_022464.5(SIL1):c.984C>T (p.Leu328=) rs368666457
NM_022464.5(SIL1):c.985G>A (p.Ala329Thr)

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