ClinVar Miner

List of variants reported as likely pathogenic for canthal anomaly

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 292
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HGVS dbSNP
46;XX;t(6;15)(q23;q22)dn
46;XY;t(1;9;5)(compleX)dn
GRCh37/hg19 7q11.22-11.23(chr7:71847968-73391310)
NC_000005.10:g.(?_150396282)_(150399070_?)del
NC_000005.10:g.(?_150399002)_(150399068_?)del
NC_000011.9:g.(?_71146411)_(71152496_?)del
NM_000356.4(TCOF1):c.1474G>A (p.Glu492Lys) rs764314276
NM_000356.4(TCOF1):c.378+1G>A rs1581064385
NM_000381.4(MID1):c.1142-1G>T
NM_000381.4(MID1):c.1361A>G (p.Gln454Arg) rs1556004400
NM_000381.4(MID1):c.1454del (p.Pro485fs) rs1556003200
NM_000381.4(MID1):c.1655+1G>A
NM_000381.4(MID1):c.1725G>A (p.Trp575Ter) rs1556001968
NM_000381.4(MID1):c.1881C>A (p.Tyr627Ter) rs1556001856
NM_000381.4(MID1):c.388G>A (p.Ala130Thr)
NM_000381.4(MID1):c.922del (p.Arg308fs) rs1555894390
NM_000393.5(COL5A2):c.754G>T (p.Gly252Cys) rs1553517323
NM_001145468.3(SPECC1L):c.1292T>C (p.Leu431Pro) rs1556226291
NM_001163817.2(DHCR7):c.1328G>A (p.Arg443His) rs781687341
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.89G>C (p.Gly30Ala) rs200334114
NM_001163817.2(DHCR7):c.964-1G>T rs138659167
NM_001354689.3(RAF1):c.1142G>C (p.Gly381Ala) rs397516813
NM_001354689.3(RAF1):c.1232G>T (p.Arg411Met) rs587782972
NM_001354689.3(RAF1):c.1253G>T (p.Arg418Leu) rs730880382
NM_001354689.3(RAF1):c.1483T>C (p.Phe495Leu) rs730881003
NM_001354689.3(RAF1):c.1517A>G (p.Asp506Gly) rs397516815
NM_001354689.3(RAF1):c.1532C>T (p.Thr511Ile) rs80338799
NM_001354689.3(RAF1):c.1897C>G (p.Leu633Val) rs80338797
NM_001354689.3(RAF1):c.285C>G (p.Cys95Trp) rs727503384
NM_001354689.3(RAF1):c.452T>C (p.Phe151Ser) rs587782971
NM_001354689.3(RAF1):c.524A>G (p.His175Arg) rs397516822
NM_001354689.3(RAF1):c.61G>A (p.Val21Met)
NM_001354689.3(RAF1):c.766A>G (p.Arg256Gly) rs397516825
NM_001354689.3(RAF1):c.768G>C (p.Arg256Ser) rs397516826
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>G (p.Ser259Cys) rs397516827
NM_001354689.3(RAF1):c.776C>T (p.Ser259Phe) rs397516827
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>T (p.Pro261Leu) rs397516828
NM_001354689.3(RAF1):c.784A>C (p.Asn262His)
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_001360.2(DHCR7):c.1004del (p.Pro335fs) rs1555145646
NM_001360.2(DHCR7):c.1057del (p.Val353fs) rs759720450
NM_001360.2(DHCR7):c.1066del (p.His356fs) rs774291653
NM_001360.2(DHCR7):c.1080_1081del (p.Phe361fs) rs1057516517
NM_001360.2(DHCR7):c.111G>A (p.Trp37Ter) rs750345068
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.1190C>T (p.Ser397Leu) rs773134475
NM_001360.2(DHCR7):c.1199G>A (p.Trp400Ter) rs1057516493
NM_001360.2(DHCR7):c.1222T>C (p.Tyr408His) rs1046560765
NM_001360.2(DHCR7):c.1327C>T (p.Arg443Cys) rs535561852
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.1384T>C (p.Tyr462His) rs201270451
NM_001360.2(DHCR7):c.1396G>A (p.Val466Met) rs760428437
NM_001360.2(DHCR7):c.1409T>A (p.Leu470Gln) rs1331331095
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.16C>T (p.Gln6Ter) rs1057516977
NM_001360.2(DHCR7):c.292C>T (p.Gln98Ter) rs104886039
NM_001360.2(DHCR7):c.322-2A>G rs1555146618
NM_001360.2(DHCR7):c.326T>C (p.Leu109Pro) rs121912195
NM_001360.2(DHCR7):c.385_412+5del rs746482788
NM_001360.2(DHCR7):c.3G>A (p.Met1Ile) rs121909767
NM_001360.2(DHCR7):c.413-1G>A rs1057517307
NM_001360.2(DHCR7):c.413-2A>G rs775575609
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.546G>A (p.Trp182Ter) rs1032242817
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.655T>G (p.Tyr219Asp) rs779896782
NM_001360.2(DHCR7):c.740C>T (p.Ala247Val) rs886041354
NM_001360.2(DHCR7):c.803del (p.Asn268fs) rs1555146023
NM_001360.2(DHCR7):c.804del (p.Asn268fs) rs1057516783
NM_001360.2(DHCR7):c.82C>T (p.Gln28Ter) rs756564881
NM_001360.2(DHCR7):c.831+2T>A rs1057516920
NM_001360.2(DHCR7):c.839A>G (p.Tyr280Cys) rs121909766
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.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.894C>A (p.Cys298Ter) rs769639753
NM_001360.2(DHCR7):c.906C>G (p.Phe302Leu) rs80338858
NM_001360.2(DHCR7):c.907G>A (p.Gly303Arg) rs142808899
NM_001360.2(DHCR7):c.915C>G (p.Tyr305Ter) rs1555145867
NM_001360.2(DHCR7):c.939G>A (p.Trp313Ter) rs1555145862
NM_001360.2(DHCR7):c.952del (p.Tyr318fs) rs1555145859
NM_001360.2(DHCR7):c.963+1G>T rs1057516973
NM_001360.2(DHCR7):c.963+2T>G rs1057517070
NM_001360.2(DHCR7):c.981C>A (p.Tyr327Ter) rs1057516375
NM_001360.2(DHCR7):c.99-1G>C rs1451108193
NM_001360.2(DHCR7):c.991C>T (p.Gln331Ter) rs1057516610
NM_001360.2(DHCR7):c.995del (p.Leu332fs) rs1057516618
NM_001360.3(DHCR7):c.1112G>A (p.Trp371Ter) rs1591107421
NM_001360.3(DHCR7):c.116C>G (p.Ser39Ter)
NM_001360.3(DHCR7):c.1219A>T (p.Asn407Tyr) rs770819693
NM_001360.3(DHCR7):c.1221C>A (p.Asn407Lys)
NM_001360.3(DHCR7):c.1290C>G (p.Tyr430Ter) rs140791666
NM_001360.3(DHCR7):c.1324C>G (p.His442Asp)
NM_001360.3(DHCR7):c.1328G>T (p.Arg443Leu)
NM_001360.3(DHCR7):c.1337G>C (p.Arg446Pro)
NM_001360.3(DHCR7):c.1342_1344delinsC (p.Glu448fs) rs1591107062
NM_001360.3(DHCR7):c.300T>A (p.Tyr100Ter)
NM_001360.3(DHCR7):c.321G>C (p.Gln107His) rs104886040
NM_001360.3(DHCR7):c.322-1G>A
NM_001360.3(DHCR7):c.374A>G (p.Tyr125Cys)
NM_001360.3(DHCR7):c.388C>T (p.Gln130Ter)
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217
NM_001360.3(DHCR7):c.501G>A (p.Trp167Ter)
NM_001360.3(DHCR7):c.627C>A (p.Cys209Ter)
NM_001360.3(DHCR7):c.724C>T (p.Arg242Cys) rs80338856
NM_001360.3(DHCR7):c.820_825del (p.Asn274_Val275del)
NM_001360.3(DHCR7):c.934_935del (p.Val312fs) rs1469918162
NM_001360.3(DHCR7):c.952T>A (p.Tyr318Asn)
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001360.3(DHCR7):c.98+2_98+6del
NM_001371623.1(TCOF1):c.109-3del
NM_001371623.1(TCOF1):c.3046G>A (p.Gly1016Ser)
NM_001371623.1(TCOF1):c.89T>G (p.Val30Gly)
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.1863T>A (p.Asn621Lys) rs397516895
NM_001374258.1(BRAF):c.2255C>A (p.Ala752Asp) rs727502904
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.739T>G (p.Phe247Val) rs397516903
NM_001374258.1(BRAF):c.769C>A (p.Gln257Lys) rs397507469
NM_001374258.1(BRAF):c.785A>C (p.Gln262Pro) rs397516904
NM_001374258.1(BRAF):c.793G>C (p.Gly265Arg) rs397516905
NM_001854.4(COL11A1):c.4048_4065del (p.Ser1350_Pro1355del) rs1553200431
NM_002524.5(NRAS):c.176C>A (p.Ala59Asp) rs1570874751
NM_002524.5(NRAS):c.204A>T (p.Arg68Ser)
NM_002709.3(PPP1CB):c.544A>G (p.Met182Val)
NM_002709.3(PPP1CB):c.545T>A (p.Met182Lys)
NM_002755.3(MAP2K1):c.608A>G rs727503996
NM_002755.4(MAP2K1):c.308T>C (p.Ile103Thr)
NM_002755.4(MAP2K1):c.364A>G (p.Asn122Asp) rs876657651
NM_002755.4(MAP2K1):c.608A>C (p.Glu203Ala)
NM_002834.4(PTPN11):c.179G>T (p.Gly60Val) rs397507509
NM_002834.4(PTPN11):c.205G>A (p.Glu69Lys) rs397507511
NM_002834.4(PTPN11):c.329A>C (p.Glu110Ala) rs397507519
NM_002834.4(PTPN11):c.853T>G (p.Phe285Val) rs397507531
NM_002834.4(PTPN11):c.959A>G (p.Asn320Ser) rs1398859175
NM_002834.5(PTPN11):c.1271C>T (p.Pro424Leu) rs1592852902
NM_002834.5(PTPN11):c.1409T>C (p.Ile470Thr)
NM_002834.5(PTPN11):c.1471C>A (p.Pro491Thr) rs397507539
NM_002834.5(PTPN11):c.1496C>T (p.Ser499Phe)
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
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.166A>G (p.Ile56Val) rs397507504
NM_002834.5(PTPN11):c.171G>T (p.Gln57His)
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.182A>C (p.Asp61Ala) rs121918461
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) rs121918461
NM_002834.5(PTPN11):c.186_188del (p.Tyr63del)
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.215C>G (p.Ala72Gly) rs121918454
NM_002834.5(PTPN11):c.235C>A (p.Gln79Lys) rs397516803
NM_002834.5(PTPN11):c.317A>G (p.Asp106Gly)
NM_002834.5(PTPN11):c.328G>A (p.Glu110Lys) rs397507518
NM_002834.5(PTPN11):c.762ACA[4] (p.Gln257dup) rs397507524
NM_002834.5(PTPN11):c.772G>A (p.Glu258Lys)
NM_002834.5(PTPN11):c.774G>T (p.Glu258Asp) rs397516809
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.846C>G (p.Ile282Met) rs397507530
NM_004333.6(BRAF):c.1387A>G (p.Ile463Val) rs1562957000
NM_004333.6(BRAF):c.1513C>T (p.Leu505Phe) rs397507477
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) rs180177042
NM_004333.6(BRAF):c.2191C>T (p.Pro731Ser) rs1562931107
NM_004333.6(BRAF):c.739T>C (p.Phe247Leu) rs397516903
NM_004333.6(BRAF):c.741T>G (p.Phe247Leu) rs397509343
NM_004985.5(KRAS):c.101C>G (p.Pro34Arg) rs104894366
NM_004985.5(KRAS):c.108A>G (p.Ile36Met) rs727503109
NM_004985.5(KRAS):c.13A>G (p.Lys5Glu) rs193929331
NM_004985.5(KRAS):c.179G>T (p.Gly60Val) rs727503108
NM_004985.5(KRAS):c.202_204del (p.Arg68del)
NM_004985.5(KRAS):c.221C>T (p.Thr74Ile)
NM_004985.5(KRAS):c.451-5642A>C
NM_004985.5(KRAS):c.451-5642A>T rs1592798693
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.466T>G (p.Phe156Val) rs397517042
NM_005188.3(CBL):c.1096-4_1096-1del rs397517077
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_005633.3(SOS1):c.1132A>G (p.Thr378Ala) rs397517146
NM_005633.3(SOS1):c.1293_1294delinsGA (p.Trp432Arg) rs1572830693
NM_005633.3(SOS1):c.1653_1655del (p.Arg552del) rs1572830219
NM_005633.3(SOS1):c.1867T>G (p.Phe623Val) rs727505093
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.2671G>A (p.Glu891Lys) rs1553353452
NM_005633.3(SOS1):c.3022T>C (p.Tyr1008His) rs397517163
NM_005633.3(SOS1):c.322G>A (p.Glu108Lys) rs397517164
NM_005633.3(SOS1):c.335C>G (p.Pro112Arg) rs397517166
NM_005633.3(SOS1):c.512T>C (p.Val171Ala) rs397517174
NM_005633.4(SOS1):c.1477A>G (p.Lys493Glu)
NM_005633.4(SOS1):c.1708_1713del (p.Pro570_Ser571del)
NM_006767.4(LZTR1):c.1030del (p.Ser344fs) rs1555928249
NM_006767.4(LZTR1):c.1904C>T (p.Pro635Leu) rs148677674
NM_006767.4(LZTR1):c.2044A>G (p.Lys682Glu) rs758472207
NM_006767.4(LZTR1):c.2387T>C (p.Ile796Thr) rs141672122
NM_006767.4(LZTR1):c.510-2A>G rs1458682620
NM_006767.4(LZTR1):c.722T>C (p.Phe241Ser)
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg) rs869320686
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln) rs1223430276
NM_006912.6(RIT1):c.151G>T (p.Asp51Tyr) rs869025190
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.233G>A (p.Gly78Glu) rs1557960268
NM_006912.6(RIT1):c.244T>G (p.Phe82Val) rs869025194
NM_006912.6(RIT1):c.251C>T (p.Ala84Val) rs869025196
NM_006912.6(RIT1):c.268A>C (p.Met90Leu)
NM_006912.6(RIT1):c.268A>G (p.Met90Val) rs1557960039
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.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>G (p.Met267Arg) rs797045167
NM_012330.4(KAT6B):c.3399_3402del (p.Arg1133fs) rs1554844486
NM_015330.6(SPECC1L):c.2999A>T (p.Asp1000Val) rs1601294872
NM_022464.5(SIL1):c.158_159del (p.Arg53fs)
NM_022464.5(SIL1):c.645+2T>C
NM_023067.4(FOXL2):c.169T>A (p.Tyr57Asn) rs1559922647
NM_023067.4(FOXL2):c.173C>G (p.Ser58Trp) rs1057516142
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.187A>C (p.Ile63Leu) rs1057516144
NM_023067.4(FOXL2):c.188T>A (p.Ile63Asn) rs1315073489
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.230T>C (p.Leu77Pro) rs1559922577
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.298A>G (p.Asn100Asp) rs1559922528
NM_023067.4(FOXL2):c.303C>G (p.Ser101Arg) rs1057516151
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.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.340A>G (p.Lys114Glu) rs1057516159
NM_023067.4(FOXL2):c.389T>C (p.Leu130Pro) rs1057516160
NM_023067.4(FOXL2):c.650C>T (p.Ser217Phe) rs797044527
NM_030662.4(MAP2K2):c.401A>G (p.Tyr134Cys) rs727504370
NM_030662.4(MAP2K2):c.619G>A (p.Glu207Lys) rs727504382
NM_033360.4(KRAS):c.194G>T (p.Ser65Ile) rs1555194026
NM_033360.4(KRAS):c.355G>A (p.Asp119Asn) rs730880471
NM_203290.4(POLR1C):c.326G>A (p.Arg109His) rs796052127
NM_203290.4(POLR1C):c.364T>A (p.Phe122Ile) rs1554131502
NM_203290.4(POLR1C):c.525del (p.Thr174_Trp175insTer) rs780663139
NM_203290.4(POLR1C):c.836G>A (p.Arg279Gln) rs191582628

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