ClinVar Miner

List of variants reported as uncertain significance for canthal anomaly

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1014
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HGVS dbSNP
46;XX;t(5;7)(q12.2;q21.2)mat
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_000012.12:g.112418936G>T
NC_000014.8:g.(?_50092240)_(50698021_?)dup
NC_000014.9:g.(?_50188487)_(50204419_?)dup
NM_000356.4(TCOF1):c.1148G>T (p.Gly383Val) rs369804013
NM_000356.4(TCOF1):c.1862A>T (p.Glu621Val) rs760265000
NM_000356.4(TCOF1):c.187C>T (p.Arg63Trp) rs367964727
NM_000356.4(TCOF1):c.2344C>G (p.Gln782Glu) rs201043592
NM_000356.4(TCOF1):c.2531C>T (p.Pro844Leu) rs150515843
NM_000356.4(TCOF1):c.2785G>A (p.Val929Met) rs368011460
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.3652A>G (p.Ile1218Val) rs1297478685
NM_000356.4(TCOF1):c.4127A>G (p.Glu1376Gly) rs1561543582
NM_000356.4(TCOF1):c.449A>G (p.Asn150Ser) rs141805606
NM_000356.4(TCOF1):c.640-1973A>G rs1562326677
NM_000381.4(MID1):c.107G>A (p.Arg36His)
NM_000381.4(MID1):c.1495G>A (p.Val499Met) rs868016081
NM_000381.4(MID1):c.2000C>T (p.Pro667Leu) rs147106995
NM_000381.4(MID1):c.476A>G (p.His159Arg)
NM_000381.4(MID1):c.757-5831A>G rs1555896387
NM_000501.4(ELN):c.134-16T>C
NM_000501.4(ELN):c.1675G>A (p.Val559Ile) rs560081099
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_001163817.2(DHCR7):c.1012G>A (p.Val338Met) rs72954276
NM_001163817.2(DHCR7):c.289G>A (p.Ala97Thr) rs150563256
NM_001163817.2(DHCR7):c.58A>G (p.Asn20Asp) rs772572550
NM_001163817.2(DHCR7):c.89G>C (p.Gly30Ala) rs200334114
NM_001320141.2(RPL6):c.-296G>C
NM_001320141.2(RPL6):c.-322C>T
NM_001354689.3(RAF1):c.*113T>G rs886057914
NM_001354689.3(RAF1):c.*120C>A
NM_001354689.3(RAF1):c.*162T>C rs886057913
NM_001354689.3(RAF1):c.*190G>A rs528863135
NM_001354689.3(RAF1):c.*410A>G
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.*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.-27+7G>A rs886057916
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.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.124G>A (p.Ala42Thr) rs200856000
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.1492G>A (p.Glu498Lys)
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.176G>A (p.Arg59His) rs1559447623
NM_001354689.3(RAF1):c.1781A>G (p.Tyr594Cys) rs370242565
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.21T>C (p.Ala7=) rs886057915
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.31A>T (p.Ile11Phe) rs779001930
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.462C>G (p.Ile154Met) rs367732360
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.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.776C>A (p.Ser259Tyr) rs397516827
NM_001354689.3(RAF1):c.903T>A (p.Ile301=)
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.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.*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.*644G>A rs886048614
NM_001360.2(DHCR7):c.*681T>C rs886048613
NM_001360.2(DHCR7):c.*700G>A rs886048612
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.-34T>G rs145915789
NM_001360.2(DHCR7):c.-6-4G>A rs183610891
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.1022T>C (p.Leu341Pro) rs1317526744
NM_001360.2(DHCR7):c.1025T>C (p.Leu342Pro) rs199957106
NM_001360.2(DHCR7):c.1079T>C (p.Leu360Pro) rs1555145619
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.1155C>T (p.Ala385=) rs777517985
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.122C>T (p.Ala41Val) rs761265690
NM_001360.2(DHCR7):c.1231G>A (p.Asp411Asn) rs372055524
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.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.1336C>T (p.Arg446Trp) rs145043679
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.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.1386C>A (p.Tyr462Ter) rs1453500228
NM_001360.2(DHCR7):c.1389C>T (p.Thr463=) rs200477386
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.1426T>C (p.Ter476Gln) rs775034584
NM_001360.2(DHCR7):c.14C>T (p.Ser5Leu) rs1127869
NM_001360.2(DHCR7):c.160G>A (p.Val54Ile) rs779222334
NM_001360.2(DHCR7):c.199G>A (p.Ala67Thr) rs143999854
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.232G>A (p.Gly78Arg) rs373352413
NM_001360.2(DHCR7):c.241C>T (p.Arg81Trp) rs775735710
NM_001360.2(DHCR7):c.321+10C>T rs377108406
NM_001360.2(DHCR7):c.356A>G (p.His119Arg) rs28938174
NM_001360.2(DHCR7):c.376G>A (p.Val126Ile) rs143587828
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.400G>T (p.Val134Leu) rs201466849
NM_001360.2(DHCR7):c.412+3A>G rs786200926
NM_001360.2(DHCR7):c.433A>C (p.Ile145Leu) rs1555146475
NM_001360.2(DHCR7):c.438T>G (p.Asn146Lys) rs949177
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.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.638G>A (p.Gly213Asp) rs769583377
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.704T>C (p.Phe235Ser) rs1555146061
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.728C>G (p.Pro243Arg) rs777248132
NM_001360.2(DHCR7):c.729C>T (p.Pro243=) rs145284180
NM_001360.2(DHCR7):c.742T>C (p.Trp248Arg) rs886044494
NM_001360.2(DHCR7):c.770C>T (p.Ala257Val) rs770925697
NM_001360.2(DHCR7):c.808A>G (p.Met270Val) rs1555146021
NM_001360.2(DHCR7):c.840C>T (p.Tyr280=) rs148468879
NM_001360.2(DHCR7):c.855C>T (p.Phe285=) rs781026169
NM_001360.2(DHCR7):c.862G>A (p.Glu288Lys) rs565893436
NM_001360.2(DHCR7):c.902A>G (p.His301Arg) rs1565586067
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.91C>T (p.Arg31Cys) rs367585401
NM_001360.2(DHCR7):c.927C>A (p.Gly309=) rs149974099
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.970T>C (p.Tyr324His) rs1173707321
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.99-5C>T rs372886043
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.*4C>T
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.1031G>A (p.Gly344Asp)
NM_001360.3(DHCR7):c.1048A>G (p.Ile350Val)
NM_001360.3(DHCR7):c.1084C>G (p.Arg362Gly)
NM_001360.3(DHCR7):c.1088G>A (p.Arg363His)
NM_001360.3(DHCR7):c.1156G>A (p.Asp386Asn)
NM_001360.3(DHCR7):c.1218C>G (p.Phe406Leu)
NM_001360.3(DHCR7):c.1295A>T (p.Tyr432Phe)
NM_001360.3(DHCR7):c.1334_1336dup (p.Leu445dup)
NM_001360.3(DHCR7):c.1364A>T (p.Tyr455Phe)
NM_001360.3(DHCR7):c.225C>T (p.Ile75=) rs755182484
NM_001360.3(DHCR7):c.231C>G (p.Thr77=)
NM_001360.3(DHCR7):c.239C>T (p.Ala80Val)
NM_001360.3(DHCR7):c.322-7G>A rs1359774813
NM_001360.3(DHCR7):c.418G>A (p.Val140Met)
NM_001360.3(DHCR7):c.44T>C (p.Leu15Pro)
NM_001360.3(DHCR7):c.454C>T (p.Leu152Phe)
NM_001360.3(DHCR7):c.484G>A (p.Ala162Thr)
NM_001360.3(DHCR7):c.51C>T (p.Gly17=)
NM_001360.3(DHCR7):c.626+7T>A
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.687C>G (p.Ile229Met)
NM_001360.3(DHCR7):c.735C>T (p.Ile245=) rs12800
NM_001360.3(DHCR7):c.736G>A (p.Val246Ile)
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.939G>C (p.Trp313Cys)
NM_001360.3(DHCR7):c.944C>T (p.Pro315Leu)
NM_001360.3(DHCR7):c.959T>C (p.Leu320Pro)
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.117C>A (p.Phe39Leu)
NM_001371623.1(TCOF1):c.2361A>C (p.Lys787Asn)
NM_001371623.1(TCOF1):c.2490A>G (p.Pro830=)
NM_001371623.1(TCOF1):c.3301G>A (p.Asp1101Asn)
NM_001371623.1(TCOF1):c.3593C>T (p.Ala1198Val)
NM_001371623.1(TCOF1):c.4070C>T (p.Ala1357Val)
NM_001371623.1(TCOF1):c.42C>G (p.Ile14Met) rs1581000221
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.481G>T (p.Ala161Ser)
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_001374258.1(BRAF):c.-12C>T
NM_001374258.1(BRAF):c.-56C>T
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.1357G>A (p.Val453Met) rs377093637
NM_001374258.1(BRAF):c.1452G>A (p.Arg484=) rs56101602
NM_001374258.1(BRAF):c.1529C>G (p.Thr510Arg) rs397516891
NM_001374258.1(BRAF):c.1575G>T (p.Leu525Phe) rs180177036
NM_001374258.1(BRAF):c.1689A>G (p.Pro563=)
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.2063A>G (p.Glu688Gly)
NM_001374258.1(BRAF):c.2281T>G (p.Leu761Val)
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.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.793G>C (p.Gly265Arg) rs397516905
NM_002524.4(NRAS):c.-132C>T rs886045109
NM_002524.4(NRAS):c.-179G>C rs886045110
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.*2328G>A
NM_002524.5(NRAS):c.*2412G>A
NM_002524.5(NRAS):c.*2513T>A rs150969241
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.*2677A>T rs886045101
NM_002524.5(NRAS):c.*2714G>T rs886045100
NM_002524.5(NRAS):c.*2767C>T
NM_002524.5(NRAS):c.*2805T>C rs776606789
NM_002524.5(NRAS):c.*2811C>A
NM_002524.5(NRAS):c.*2844T>A rs530053161
NM_002524.5(NRAS):c.*2860G>A rs886045099
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.*3341A>T
NM_002524.5(NRAS):c.*3362T>C
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.*536C>T rs886045108
NM_002524.5(NRAS):c.*651C>T
NM_002524.5(NRAS):c.*774A>G rs886045107
NM_002524.5(NRAS):c.*935dup rs886045106
NM_002524.5(NRAS):c.-106G>T rs755583487
NM_002524.5(NRAS):c.112-6C>G
NM_002524.5(NRAS):c.112-8A>G rs9724626
NM_002524.5(NRAS):c.235C>T (p.Leu79Phe)
NM_002524.5(NRAS):c.250A>G (p.Ile84Val) rs376177995
NM_002524.5(NRAS):c.360G>A (p.Leu120=) rs143020946
NM_002524.5(NRAS):c.380C>G (p.Thr127Arg) rs779899354
NM_002524.5(NRAS):c.457G>A (p.Glu153Lys)
NM_002524.5(NRAS):c.553C>T (p.Pro185Ser) rs374061873
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.961C>T (p.Pro321Ser) rs771613524
NM_002755.4(MAP2K1):c.1068+12_1068+15del rs397516788
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[16] rs80269561
NM_002834.4(PTPN11):c.*1157_*1159ATG[17] rs80269561
NM_002834.4(PTPN11):c.*1332G>A rs886048973
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.*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.*2928A>T rs565075386
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.*3300T>C rs886048980
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.*687C>T rs748512308
NM_002834.4(PTPN11):c.*740C>T rs886048969
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.1048T>G (p.Ser350Ala) rs146571700
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.1277A>C (p.His426Pro) rs727505389
NM_002834.4(PTPN11):c.1361C>T (p.Pro454Leu) rs1566185599
NM_002834.4(PTPN11):c.1379+6A>G rs746958309
NM_002834.4(PTPN11):c.1380-14C>G rs193922657
NM_002834.4(PTPN11):c.14+8G>T rs886048965
NM_002834.4(PTPN11):c.1468G>A (p.Val490Ile) rs781083623
NM_002834.4(PTPN11):c.15-4del rs1223869705
NM_002834.4(PTPN11):c.1579C>T (p.Arg527Cys) rs191525506
NM_002834.4(PTPN11):c.1599+4C>A rs142606486
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.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.854T>A (p.Phe285Tyr) rs121918463
NM_002834.4(PTPN11):c.940T>C (p.Phe314Leu) rs968167995
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.*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.*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.*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.1449T>G (p.Gly483=) rs143238917
NM_002834.5(PTPN11):c.1471C>G (p.Pro491Ala) rs397507539
NM_002834.5(PTPN11):c.1500G>T (p.Gln500His)
NM_002834.5(PTPN11):c.155C>T (p.Thr52Ile) rs397507503
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.1678C>T (p.Leu560Phe) rs397516797
NM_002834.5(PTPN11):c.1682C>T (p.Pro561Leu) rs141140214
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.48A>G (p.Ala16=) rs372736227
NM_002834.5(PTPN11):c.526-8C>A rs184804143
NM_002834.5(PTPN11):c.556C>T (p.Arg186Trp) rs143433437
NM_002834.5(PTPN11):c.598A>T (p.Asn200Tyr) rs727503381
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.854-14T>A
NM_002834.5(PTPN11):c.925A>G (p.Ile309Val) rs201787206
NM_002880.3(RAF1):c.-339_-338AG[1] rs527774250
NM_004333.6(BRAF):c.*3C>T rs746680490
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.1502A>C (p.Glu501Ala) rs180177039
NM_004333.6(BRAF):c.1796C>T (p.Thr599Ile) rs121913375
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.2196C>G (p.Ser732=) rs142592480
NM_004333.6(BRAF):c.437G>A (p.Arg146Gln) rs557241012
NM_004333.6(BRAF):c.72G>C (p.Glu24Asp) rs587778114
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_004985.5(KRAS):c.-160A>G rs727503111
NM_004985.5(KRAS):c.111+8T>G
NM_004985.5(KRAS):c.164T>G (p.Ile55Ser)
NM_004985.5(KRAS):c.198A>G (p.Ala66=) rs200229810
NM_004985.5(KRAS):c.264A>G (p.Lys88=) rs370920665
NM_005188.3(CBL):c.2519G>C (p.Cys840Ser) rs376536789
NM_005343.4(HRAS):c.374T>C (p.Val125Ala)
NM_005343.4(HRAS):c.450+107_450+112dup
NM_005343.4(HRAS):c.520C>G (p.Pro174Ala) rs397517144
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.*1385A>G rs868000333
NM_005633.3(SOS1):c.*1589T>G rs886056014
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.*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.*2497G>A rs886056008
NM_005633.3(SOS1):c.*2503_*2506dup rs886056007
NM_005633.3(SOS1):c.*298C>G rs886056021
NM_005633.3(SOS1):c.*3189_*3192del rs572584074
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.*3566_*3568del rs886056005
NM_005633.3(SOS1):c.*3725T>C rs72799430
NM_005633.3(SOS1):c.*3727G>C rs886056004
NM_005633.3(SOS1):c.*4023T>C rs1043800
NM_005633.3(SOS1):c.*4110C>A rs886056003
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.*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.1098T>A (p.Asp366Glu) rs730881040
NM_005633.3(SOS1):c.109A>G (p.Thr37Ala) rs150565592
NM_005633.3(SOS1):c.1271A>G (p.Glu424Gly) rs730881042
NM_005633.3(SOS1):c.1310T>G (p.Ile437Ser) rs397517150
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.1644T>A (p.Ser548Arg) rs730881045
NM_005633.3(SOS1):c.1659G>A (p.Met553Ile) rs886056025
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.1989A>C (p.Ile663=) rs587781172
NM_005633.3(SOS1):c.2121T>C (p.Asp707=) rs571408451
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.253T>C (p.Trp85Arg) rs730881054
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.280A>G (p.Ile94Val) rs144757941
NM_005633.3(SOS1):c.2966G>A (p.Arg989Lys) rs202043599
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.3197G>C (p.Ser1066Thr) rs1428068201
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.3347-3C>T rs779326746
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.3709C>G (p.Pro1237Ala) rs371408734
NM_005633.3(SOS1):c.3793T>G (p.Ser1265Ala) rs886056023
NM_005633.3(SOS1):c.487A>G (p.Lys163Glu) rs886042206
NM_005633.3(SOS1):c.553A>G (p.Ile185Val) rs143962515
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.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.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_005633.4(SOS1):c.*1049G>T
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.*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.*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.*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.*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.1607A>G (p.Asn536Ser)
NM_005633.4(SOS1):c.1635G>A (p.Gln545=)
NM_005633.4(SOS1):c.1660C>A (p.Leu554Ile)
NM_005633.4(SOS1):c.1681G>A (p.Glu561Lys)
NM_005633.4(SOS1):c.2158A>G (p.Thr720Ala)
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.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_005850.4(SF3B4):c.-263dupA rs762430957
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.147C>A (p.Phe49Leu)
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.175G>C (p.Asp59His) rs775437600
NM_006270.5(RRAS):c.241+5G>A
NM_006270.5(RRAS):c.241+6G>A
NM_006270.5(RRAS):c.307G>A (p.Gly103Ser)
NM_006270.5(RRAS):c.338G>A (p.Arg113Gln) rs766259420
NM_006270.5(RRAS):c.344+6_344+7del
NM_006270.5(RRAS):c.352G>A (p.Glu118Lys)
NM_006270.5(RRAS):c.371C>G (p.Thr124Arg)
NM_006270.5(RRAS):c.371C>T (p.Thr124Met) rs369508242
NM_006270.5(RRAS):c.394C>T (p.Arg132Cys)
NM_006270.5(RRAS):c.400G>A (p.Asp134Asn) rs374650566
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.448C>T (p.Arg150Cys)
NM_006270.5(RRAS):c.454-6C>T rs1568436933
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.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.526C>T (p.Arg176Cys)
NM_006270.5(RRAS):c.533A>G (p.Asn178Ser)
NM_006270.5(RRAS):c.553C>A (p.Gln185Lys)
NM_006270.5(RRAS):c.562C>T (p.Arg188Trp)
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.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.74C>T (p.Pro25Leu) rs558985706
NM_006270.5(RRAS):c.94C>T (p.Leu32=)
NM_006767.4(LZTR1):c.1055A>C (p.Tyr352Ser)
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.1382C>A (p.Ala461Asp) rs1569156890
NM_006767.4(LZTR1):c.1385T>C (p.Ile462Thr) rs147684991
NM_006767.4(LZTR1):c.1585T>C (p.Tyr529His) rs767374538
NM_006767.4(LZTR1):c.1739T>C (p.Leu580Pro) rs1555928697
NM_006767.4(LZTR1):c.1943-256C>T rs761685529
NM_006767.4(LZTR1):c.1982G>A (p.Gly661Glu) rs750582696
NM_006767.4(LZTR1):c.2070-12C>A
NM_006767.4(LZTR1):c.2173C>T (p.Arg725Cys)
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.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.58G>A (p.Ala20Thr)
NM_006767.4(LZTR1):c.594-3C>T
NM_006767.4(LZTR1):c.842C>T (p.Pro281Leu) rs1390048261
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.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.229_234dup (p.Ala77_Gly78dup)
NM_006912.6(RIT1):c.233G>A (p.Gly78Glu) rs1557960268
NM_006912.6(RIT1):c.235C>G (p.Gln79Glu)
NM_006912.6(RIT1):c.244T>A (p.Phe82Ile) rs869025194
NM_006912.6(RIT1):c.257G>A (p.Arg86Gln)
NM_006912.6(RIT1):c.334C>T (p.Arg112Cys) rs375724784
NM_006912.6(RIT1):c.367C>T (p.Arg123Cys)
NM_006912.6(RIT1):c.368G>A (p.Arg123His)
NM_006912.6(RIT1):c.461G>A (p.Arg154Gln) rs754596127
NM_006912.6(RIT1):c.506A>G (p.Tyr169Cys)
NM_006912.6(RIT1):c.546A>G (p.Ile182Met)
NM_006912.6(RIT1):c.575C>T (p.Ala192Val) rs376391961
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_006939.4(SOS2):c.1042T>G (p.Cys348Gly)
NM_006939.4(SOS2):c.1146A>G (p.Gln382=) rs1178247373
NM_006939.4(SOS2):c.1181C>T (p.Pro394Leu)
NM_006939.4(SOS2):c.1264G>A (p.Glu422Lys)
NM_006939.4(SOS2):c.1266A>C (p.Glu422Asp)
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.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.1567A>G (p.Ile523Val)
NM_006939.4(SOS2):c.1634G>A (p.Arg545His)
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.1900A>G (p.Lys634Glu)
NM_006939.4(SOS2):c.1976T>C (p.Leu659Ser)
NM_006939.4(SOS2):c.2068G>A (p.Val690Ile)
NM_006939.4(SOS2):c.2128G>C (p.Glu710Gln) rs768829374
NM_006939.4(SOS2):c.2161+10A>G rs201629454
NM_006939.4(SOS2):c.2168C>T (p.Ala723Val) rs1566827698
NM_006939.4(SOS2):c.220G>A (p.Val74Ile)
NM_006939.4(SOS2):c.2221G>A (p.Ala741Thr) rs1594973893
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.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.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.257C>T (p.Ala86Val) rs146272145
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.2606T>C (p.Val869Ala) rs750095346
NM_006939.4(SOS2):c.2657A>G (p.His886Arg)
NM_006939.4(SOS2):c.2668-5T>C
NM_006939.4(SOS2):c.2707G>A (p.Val903Met)
NM_006939.4(SOS2):c.2758A>G (p.Ile920Val) rs755783805
NM_006939.4(SOS2):c.2849G>A (p.Gly950Glu)
NM_006939.4(SOS2):c.290G>A (p.Arg97Gln) rs777574895
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.3076-3C>T
NM_006939.4(SOS2):c.3076C>T (p.Pro1026Ser) rs201874067
NM_006939.4(SOS2):c.3114A>G (p.Ile1038Met)
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.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.3338-4A>G rs777684425
NM_006939.4(SOS2):c.3338-6C>G
NM_006939.4(SOS2):c.3356C>T (p.Ala1119Val)
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.3403A>G (p.Ser1135Gly) rs375478974
NM_006939.4(SOS2):c.3407T>C (p.Leu1136Ser)
NM_006939.4(SOS2):c.3443_3454del (p.Pro1148_Pro1151del)
NM_006939.4(SOS2):c.346-3C>T
NM_006939.4(SOS2):c.3520G>A (p.Ala1174Thr)
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.3584C>T (p.Ala1195Val) rs753151750
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.3758G>C (p.Ser1253Thr)
NM_006939.4(SOS2):c.3761C>G (p.Thr1254Arg) rs772587016
NM_006939.4(SOS2):c.3781A>C (p.Thr1261Pro) rs1555367637
NM_006939.4(SOS2):c.3788C>G (p.Pro1263Arg)
NM_006939.4(SOS2):c.3818G>A (p.Arg1273Gln)
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.3957G>T (p.Leu1319Phe)
NM_006939.4(SOS2):c.3997T>C (p.Ter1333Arg)
NM_006939.4(SOS2):c.432G>A (p.Leu144=) rs1051166055
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.572C>A (p.Pro191His)
NM_006939.4(SOS2):c.574A>G (p.Ser192Gly)
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.714T>G (p.Ser238=) rs750665891
NM_006939.4(SOS2):c.721G>A (p.Glu241Lys) rs148747022
NM_006939.4(SOS2):c.780G>T (p.Leu260Phe) rs1348457314
NM_006939.4(SOS2):c.811A>G (p.Ser271Gly)
NM_006939.4(SOS2):c.839G>C (p.Cys280Ser) rs530007285
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.1477C>T (p.Leu493Phe)
NM_007373.4(SHOC2):c.187G>A (p.Gly63Arg)
NM_007373.4(SHOC2):c.307A>G (p.Met103Val)
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_015972.4(POLR1D):c.214A>G (p.Thr72Ala)
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.-92T>A
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.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.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.1167C>T (p.Pro389=) rs199890503
NM_022464.5(SIL1):c.1231C>T (p.Arg411Cys)
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.1321G>A (p.Glu441Lys) rs779649580
NM_022464.5(SIL1):c.132G>A (p.Glu44=)
NM_022464.5(SIL1):c.164A>G (p.Glu55Gly)
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.458G>C (p.Arg153Thr)
NM_022464.5(SIL1):c.487C>T (p.Pro163Ser)
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.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.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.938T>C (p.Leu313Pro)
NM_022464.5(SIL1):c.985G>A (p.Ala329Thr)
NM_023067.4(FOXL2):c.184_198dup (p.Leu62_Ala66dup) rs1057516143
NM_023067.4(FOXL2):c.208A>G (p.Ser70Gly) rs1057516146
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.308G>A (p.Arg103His) rs1057516152
NM_023067.4(FOXL2):c.308G>T (p.Arg103Leu) rs1057516152
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.389T>A (p.Leu130Gln) rs1057516160
NM_023067.4(FOXL2):c.389T>C (p.Leu130Pro) rs1057516160
NM_023067.4(FOXL2):c.578A>G (p.Lys193Arg) rs1057516162
NM_023067.4(FOXL2):c.647C>T (p.Ala216Val) rs565208053
NM_023067.4(FOXL2):c.656A>T (p.Gln219Leu) rs1057516169
NM_023067.4(FOXL2):c.718G>T (p.Gly240Cys) rs767088367
NM_023067.4(FOXL2):c.772T>A (p.Tyr258Asn) rs28937885
NM_030662.3(MAP2K2):c.26T>C (p.Leu9Pro) rs758307267
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.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.*1326C>T rs574966178
NM_033360.4(KRAS):c.*1622G>A rs886049194
NM_033360.4(KRAS):c.*16T>C rs779184057
NM_033360.4(KRAS):c.*1752A>G rs763217196
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.*1893A>G rs886049192
NM_033360.4(KRAS):c.*1967del rs886049191
NM_033360.4(KRAS):c.*2012T>C rs886049190
NM_033360.4(KRAS):c.*2360A>G rs886049189
NM_033360.4(KRAS):c.*2391_*2392insC rs886049188
NM_033360.4(KRAS):c.*2446G>A rs886049187
NM_033360.4(KRAS):c.*2577G>A rs886049186
NM_033360.4(KRAS):c.*2605G>A rs779071703
NM_033360.4(KRAS):c.*2815C>T rs886049185
NM_033360.4(KRAS):c.*297C>T rs886049197
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.*3323T>C rs886049182
NM_033360.4(KRAS):c.*3575T>C rs749403585
NM_033360.4(KRAS):c.*3620C>T rs886049181
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.*3875_*3878del rs886049180
NM_033360.4(KRAS):c.*4036A>G rs886049179
NM_033360.4(KRAS):c.*4187del rs34719539
NM_033360.4(KRAS):c.*4195G>A rs886049177
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.*659del rs756307694
NM_033360.4(KRAS):c.*671C>T rs566222739
NM_033360.4(KRAS):c.*886A>G rs886049195
NM_033360.4(KRAS):c.*986T>C rs559143985
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.389C>T (p.Ala130Val) rs730880473
NM_144670.6(A2ML1):c.1417G>T (p.Asp473Tyr) rs201950472
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.47G>A (p.Arg16Gln)
NM_152594.3(SPRED1):c.836G>A (p.Ser279Asn)
NM_152594.3(SPRED1):c.854C>T (p.Pro285Leu)
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.-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.34A>G (p.Ser12Gly)
NM_203290.4(POLR1C):c.374G>A (p.Arg125Gln)
NM_203290.4(POLR1C):c.395G>A (p.Gly132Asp) rs201320592
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.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.639C>G (p.His213Gln)
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.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

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