ClinVar Miner

List of variants reported as likely pathogenic for multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome

Included ClinVar conditions (181):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1205
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HGVS dbSNP gnomAD frequency
NM_004525.3(LRP2):c.6160G>A (p.Asp2054Asn) rs138269726 0.00078
NM_006767.4(LZTR1):c.1904C>T (p.Pro635Leu) rs148677674 0.00077
NM_022455.5(NSD1):c.4892A>G (p.Lys1631Arg) rs201857437 0.00038
NM_014321.4(ORC6):c.2T>C (p.Met1Thr) rs146795505 0.00028
NM_006767.4(LZTR1):c.264-13G>A rs587777176 0.00017
NM_004153.4(ORC1):c.314G>A (p.Arg105Gln) rs143141689 0.00016
NM_014321.4(ORC6):c.449+5G>A rs572314014 0.00016
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe) rs202020308 0.00016
NM_003504.5(CDC45):c.1416C>T (p.His472=) rs190155337 0.00014
NM_001379081.2(FREM1):c.3971T>G (p.Leu1324Arg) rs281875281 0.00013
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp) rs200546266 0.00010
NM_003504.5(CDC45):c.469C>T (p.Arg157Cys) rs540217942 0.00010
NM_006767.4(LZTR1):c.2428C>T (p.Arg810Trp) rs776893978 0.00009
NM_000540.3(RYR1):c.10648C>T (p.Arg3550Trp) rs536304635 0.00008
NM_001395413.1(POR):c.1816C>T (p.Gln606Ter) rs782261248 0.00006
NM_006767.4(LZTR1):c.1396C>T (p.Arg466Trp) rs550922200 0.00006
NM_006767.4(LZTR1):c.1397G>A (p.Arg466Gln) rs587777180 0.00006
NM_014285.7(EXOSC2):c.89G>T (p.Gly30Val) rs537467155 0.00006
NM_016111.4(TELO2):c.392G>A (p.Gly131Asp) rs187225056 0.00006
NM_006767.4(LZTR1):c.2387T>C (p.Ile796Thr) rs141672122 0.00005
NM_030928.4(CDT1):c.1385G>A (p.Arg462Gln) rs387906917 0.00005
NM_000540.3(RYR1):c.11763C>A (p.Tyr3921Ter) rs377178986 0.00004
NM_000540.3(RYR1):c.1250T>C (p.Leu417Pro) rs764262446 0.00004
NM_000540.3(RYR1):c.5340_5341del (p.Cys1781fs) rs779723153 0.00004
NM_000540.3(RYR1):c.6274+1G>A rs1226228092 0.00004
NM_001034852.3(SMOC1):c.584-2A>G rs772178551 0.00004
NM_001395413.1(POR):c.1640G>A (p.Arg547Gln) rs1320059073 0.00004
NM_003504.5(CDC45):c.1388C>T (p.Pro463Leu) rs751663397 0.00004
NM_006767.4(LZTR1):c.1943-1G>A rs1189015572 0.00004
NM_014285.7(EXOSC2):c.801+1G>A rs780641666 0.00004
NM_014321.4(ORC6):c.235T>A (p.Tyr79Asn) rs200089121 0.00004
NM_016111.4(TELO2):c.1772T>G (p.Val591Gly) rs142217951 0.00004
NM_181741.4(ORC4):c.521A>G (p.Tyr174Cys) rs387906847 0.00004
NM_000540.3(RYR1):c.1589G>A (p.Arg530His) rs111888148 0.00003
NM_000540.3(RYR1):c.7291G>A (p.Asp2431Asn) rs193922810 0.00003
NM_001034852.3(SMOC1):c.223C>T (p.Arg75Ter) rs370866589 0.00003
NM_001395413.1(POR):c.1651C>T (p.Arg551Ter) rs782336856 0.00003
NM_002834.5(PTPN11):c.1282G>A (p.Val428Met) rs397507536 0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NM_003504.5(CDC45):c.1021C>T (p.Arg341Trp) rs540900837 0.00003
NM_000540.3(RYR1):c.14173-2A>G rs1189024951 0.00002
NM_000540.3(RYR1):c.4674dup (p.Asn1559fs) rs759632485 0.00002
NM_000540.3(RYR1):c.6838G>A (p.Val2280Ile) rs193922797 0.00002
NM_001395413.1(POR):c.1837C>T (p.Arg613Ter) rs781946801 0.00002
NM_002745.5(MAPK1):c.763A>G (p.Ile255Val) rs375334289 0.00002
NM_003504.5(CDC45):c.677A>G (p.Asp226Gly) rs754080445 0.00002
NM_000165.5(GJA1):c.443G>A (p.Arg148Gln) rs962041031 0.00001
NM_000168.6(GLI3):c.1028+1G>A rs1375768446 0.00001
NM_000540.3(RYR1):c.11590+1G>T rs113928116 0.00001
NM_000540.3(RYR1):c.11708G>A (p.Arg3903Gln) rs148399313 0.00001
NM_000540.3(RYR1):c.13525_13531dup (p.Lys4511fs) rs928989953 0.00001
NM_000540.3(RYR1):c.14129+1G>A rs142929172 0.00001
NM_000540.3(RYR1):c.14474G>A (p.Arg4825His) rs193922875 0.00001
NM_000540.3(RYR1):c.14833C>T (p.Arg4945Ter) rs1432807966 0.00001
NM_000540.3(RYR1):c.14939C>T (p.Thr4980Met) rs398123471 0.00001
NM_000540.3(RYR1):c.3523G>A (p.Glu1175Lys) rs769744438 0.00001
NM_000540.3(RYR1):c.4160+1G>A rs113460156 0.00001
NM_000540.3(RYR1):c.46-10G>A rs1972632890 0.00001
NM_000540.3(RYR1):c.5183C>T (p.Ser1728Phe) rs193922781 0.00001
NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys) rs118192174 0.00001
NM_000540.3(RYR1):c.7282G>A (p.Ala2428Thr) rs193922809 0.00001
NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys) rs28933397 0.00001
NM_000540.3(RYR1):c.9472+1G>A rs776697656 0.00001
NM_001271938.2(MEGF8):c.4697G>A (p.Arg1566His) rs397515427 0.00001
NM_001395413.1(POR):c.1811A>G (p.Tyr604Cys) rs72557954 0.00001
NM_002834.5(PTPN11):c.166A>G (p.Ile56Val) rs397507504 0.00001
NM_002834.5(PTPN11):c.175A>G (p.Thr59Ala) rs886043790 0.00001
NM_002834.5(PTPN11):c.959A>G (p.Asn320Ser) rs1398859175 0.00001
NM_002880.4(RAF1):c.61G>A (p.Val21Met) rs752484962 0.00001
NM_002880.4(RAF1):c.709G>A (p.Ala237Thr) rs587777588 0.00001
NM_002880.4(RAF1):c.770C>G (p.Ser257Trp) rs80338796 0.00001
NM_003221.4(TFAP2B):c.917C>T (p.Thr306Met) rs1232197674 0.00001
NM_004525.3(LRP2):c.10660C>T (p.Arg3554Ter) rs768458485 0.00001
NM_004525.3(LRP2):c.188-2A>G rs760114690 0.00001
NM_004525.3(LRP2):c.2639+1G>A rs746752313 0.00001
NM_004525.3(LRP2):c.3667+1G>A rs752197557 0.00001
NM_004525.3(LRP2):c.863G>A (p.Gly288Glu) rs147110349 0.00001
NM_004525.3(LRP2):c.9575G>A (p.Arg3192Gln) rs753667280 0.00001
NM_004560.4(ROR2):c.175+1G>A rs753069829 0.00001
NM_004560.4(ROR2):c.1970G>A (p.Arg657His) rs529829552 0.00001
NM_004560.4(ROR2):c.904C>T (p.Arg302Cys) rs767372181 0.00001
NM_004560.4(ROR2):c.950A>G (p.Tyr317Cys) rs756479236 0.00001
NM_005199.5(CHRNG):c.1408C>T (p.Arg470Ter) rs121912671 0.00001
NM_005199.5(CHRNG):c.256C>T (p.Arg86Cys) rs777219451 0.00001
NM_005199.5(CHRNG):c.274C>T (p.Arg92Ter) rs1559302834 0.00001
NM_005199.5(CHRNG):c.715C>T (p.Arg239Cys) rs121912670 0.00001
NM_005633.4(SOS1):c.571G>A (p.Glu191Lys) rs886041241 0.00001
NM_006767.4(LZTR1):c.-38T>A rs1459786357 0.00001
NM_006767.4(LZTR1):c.1260+1G>A rs143868364 0.00001
NM_006767.4(LZTR1):c.1733_1734del (p.Asn578fs) rs1460026299 0.00001
NM_006767.4(LZTR1):c.1785+1G>A rs145594158 0.00001
NM_006767.4(LZTR1):c.2044A>G (p.Lys682Glu) rs758472207 0.00001
NM_006767.4(LZTR1):c.2407-2A>G rs1158550690 0.00001
NM_006767.4(LZTR1):c.263+1G>A rs761241914 0.00001
NM_006767.4(LZTR1):c.347C>G (p.Ala116Gly) rs1215353050 0.00001
NM_006767.4(LZTR1):c.365C>T (p.Ser122Leu) rs587777177 0.00001
NM_006767.4(LZTR1):c.465C>G (p.Tyr155Ter) rs753295968 0.00001
NM_006767.4(LZTR1):c.509G>A (p.Arg170Gln) rs781431741 0.00001
NM_006767.4(LZTR1):c.510-2A>G rs1458682620 0.00001
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln) rs1223430276 0.00001
NM_006767.4(LZTR1):c.850C>T (p.Arg284Cys) rs797045165 0.00001
NM_006912.6(RIT1):c.251C>T (p.Ala84Val) rs869025196 0.00001
NM_007373.4(SHOC2):c.1439A>C (p.Asn480Thr) rs995403413 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_012250.6(RRAS2):c.208G>A (p.Ala70Thr) rs782457908 0.00001
NM_016111.4(TELO2):c.682+1G>A rs779227414 0.00001
NM_016277.5(RAB23):c.145C>T (p.Arg49Ter) rs1049674573 0.00001
NM_016277.5(RAB23):c.82C>T (p.Arg28Ter) rs765443042 0.00001
NM_017780.4(CHD7):c.5390G>C (p.Gly1797Ala) rs780597592 0.00001
NM_017780.4(CHD7):c.6956G>A (p.Arg2319His) rs765943226 0.00001
NM_019066.5(MAGEL2):c.3559C>T (p.Arg1187Ter) rs368965952 0.00001
NM_022455.5(NSD1):c.4411C>G (p.Arg1471Gly) rs570278338 0.00001
NM_022455.5(NSD1):c.6043T>C (p.Tyr2015His) rs587784175 0.00001
GRCh37/hg19 17p13.3(chr17:1-1026797)x1
GRCh37/hg19 22q11.22-11.23(chr22:22989174-23657759)x1
GRCh37/hg19 2q31.1(chr2:170134234-170137049)
GRCh37/hg19 9q22.31(chr9:94381136-94851388)x1
GRCh37/hg19 9q22.31(chr9:94499721-94518293)x1
NC_000002.11:g.(170034537_170037957)_(170072941_170076963)del
NC_000005.9:g.(?_176618865)_(176619040_?)dup
NC_000005.9:g.(?_176631101)_(176631313_?)dup
NC_000005.9:g.(?_176662802)_(176662966_?)dup
NC_000007.13:g.(?_42017137)_(42079858_?)dup
NC_000007.13:g.(?_42063047)_(42066031_?)dup
NC_000007.13:g.(?_42116331)_(42116476_?)dup
NC_000019.9:g.(42830583_42837756)_(42838366_42839186)del
NC_000019.9:g.(?_13136156)_(13151380_?)del
NC_000022.10:g.(?_19748408)_(19748823_?)dup
NC_000023.10:g.(?_77289083)_(77301089_?)dup
NM_000052.7(ATP7A):c.1077del (p.Ser360fs)
NM_000052.7(ATP7A):c.1139_1142delinsGAA (p.Val380fs)
NM_000052.7(ATP7A):c.1172del (p.Cys391fs)
NM_000052.7(ATP7A):c.1257_1267del (p.Glu420fs)
NM_000052.7(ATP7A):c.1296_1297del (p.Gly433fs)
NM_000052.7(ATP7A):c.140dup (p.Asn47fs)
NM_000052.7(ATP7A):c.1415_1416insATACA (p.Lys473fs)
NM_000052.7(ATP7A):c.1419_1420insCTCT (p.Gly474fs)
NM_000052.7(ATP7A):c.1424_1425del (p.Met475fs)
NM_000052.7(ATP7A):c.1439_1443del (p.Asp480fs)
NM_000052.7(ATP7A):c.1465_1466del (p.Lys489fs)
NM_000052.7(ATP7A):c.1537dup (p.Glu513fs)
NM_000052.7(ATP7A):c.1544-1G>A rs797045331
NM_000052.7(ATP7A):c.1544-2A>T rs2077751404
NM_000052.7(ATP7A):c.1599_1603delinsGAGA (p.Asn533fs)
NM_000052.7(ATP7A):c.1605del (p.Val536fs)
NM_000052.7(ATP7A):c.1608_1611del (p.Ile537fs)
NM_000052.7(ATP7A):c.1614_1615delinsCAT (p.Gln538fs)
NM_000052.7(ATP7A):c.1697del (p.Leu566fs)
NM_000052.7(ATP7A):c.1768A>T (p.Arg590Ter)
NM_000052.7(ATP7A):c.1875_1876del (p.Gly626fs)
NM_000052.7(ATP7A):c.1924_1925del (p.Asp642fs)
NM_000052.7(ATP7A):c.1924del (p.Asp642fs)
NM_000052.7(ATP7A):c.2045_2046del (p.His682fs)
NM_000052.7(ATP7A):c.2051del (p.Asn684fs)
NM_000052.7(ATP7A):c.2086_2087del (p.His696fs)
NM_000052.7(ATP7A):c.2110C>T (p.Gln704Ter)
NM_000052.7(ATP7A):c.2164_2167del (p.Pro722fs)
NM_000052.7(ATP7A):c.2172+5G>A rs797045347
NM_000052.7(ATP7A):c.2172+5G>C rs797045347
NM_000052.7(ATP7A):c.2207del (p.Tyr736fs)
NM_000052.7(ATP7A):c.2224A>T (p.Lys742Ter)
NM_000052.7(ATP7A):c.2261_2262del (p.Thr754fs)
NM_000052.7(ATP7A):c.2334dup (p.Thr779fs)
NM_000052.7(ATP7A):c.2498+2T>G rs797045357
NM_000052.7(ATP7A):c.2557G>T (p.Gly853Ter) rs2149097380
NM_000052.7(ATP7A):c.256_262del (p.Asp86fs)
NM_000052.7(ATP7A):c.2773_2781+4del
NM_000052.7(ATP7A):c.2781_2781+1delinsTT
NM_000052.7(ATP7A):c.2916+3_2916+6del rs797045364
NM_000052.7(ATP7A):c.2917-4A>G rs2149104823
NM_000052.7(ATP7A):c.293T>A (p.Leu98Ter)
NM_000052.7(ATP7A):c.2953del (p.Ile985fs)
NM_000052.7(ATP7A):c.3002C>T (p.Pro1001Leu) rs797045365
NM_000052.7(ATP7A):c.3013G>T (p.Gly1005Ter)
NM_000052.7(ATP7A):c.3081del (p.Gly1028fs)
NM_000052.7(ATP7A):c.3111+1G>A rs1557236762
NM_000052.7(ATP7A):c.319_320insACTGTCTCTTA (p.Leu107fs)
NM_000052.7(ATP7A):c.3209_3210del (p.His1070fs)
NM_000052.7(ATP7A):c.3289A>T (p.Lys1097Ter)
NM_000052.7(ATP7A):c.338_339del (p.Val113fs)
NM_000052.7(ATP7A):c.348del (p.Ile118fs)
NM_000052.7(ATP7A):c.3499_3500delinsA (p.Ala1167fs)
NM_000052.7(ATP7A):c.349A>T (p.Lys117Ter)
NM_000052.7(ATP7A):c.3515_3522delinsAAG (p.Ala1172fs)
NM_000052.7(ATP7A):c.3518_3519del (p.Leu1173fs)
NM_000052.7(ATP7A):c.360_363delinsAA (p.Gln121fs)
NM_000052.7(ATP7A):c.3612_3613del (p.Glu1205fs)
NM_000052.7(ATP7A):c.3667_3669delinsA (p.Cys1223fs)
NM_000052.7(ATP7A):c.3692del (p.Thr1231fs)
NM_000052.7(ATP7A):c.3793_3794del (p.Ala1265fs)
NM_000052.7(ATP7A):c.380_381del (p.Val127fs)
NM_000052.7(ATP7A):c.3853A>T (p.Lys1285Ter)
NM_000052.7(ATP7A):c.3928del (p.Ala1310fs)
NM_000052.7(ATP7A):c.4005+1G>T rs797045391
NM_000052.7(ATP7A):c.4005+5G>A
NM_000052.7(ATP7A):c.4006-1G>A rs1557238665
NM_000052.7(ATP7A):c.4040T>A (p.Leu1347Ter)
NM_000052.7(ATP7A):c.4043C>A (p.Ser1348Ter)
NM_000052.7(ATP7A):c.412C>T (p.Gln138Ter)
NM_000052.7(ATP7A):c.420_423delinsCTGTCTCTTATACACAT (p.Lys140fs)
NM_000052.7(ATP7A):c.469_470del (p.Ser157fs)
NM_000052.7(ATP7A):c.520A>T (p.Lys174Ter)
NM_000052.7(ATP7A):c.526A>T (p.Lys176Ter)
NM_000052.7(ATP7A):c.610+2T>C
NM_000052.7(ATP7A):c.706_707insTC (p.Ala236fs)
NM_000052.7(ATP7A):c.753_755delinsA (p.Asp251fs)
NM_000052.7(ATP7A):c.973_974del (p.Val326fs)
NM_000141.5(FGFR2):c.1013G>A (p.Gly338Glu) rs1057519044
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) rs121918487
NM_000141.5(FGFR2):c.1694A>G (p.Glu565Gly) rs121918506
NM_000165.5(GJA1):c.121G>C (p.Val41Leu)
NM_000165.5(GJA1):c.131C>T (p.Ala44Val) rs794729675
NM_000165.5(GJA1):c.142G>A (p.Glu48Lys) rs1773899790
NM_000165.5(GJA1):c.179G>C (p.Gly60Ala)
NM_000165.5(GJA1):c.196T>C (p.Tyr66His) rs2114283106
NM_000165.5(GJA1):c.226C>A (p.Arg76Ser) rs267606845
NM_000165.5(GJA1):c.226C>T (p.Arg76Cys)
NM_000165.5(GJA1):c.235G>A (p.Val79Ile)
NM_000165.5(GJA1):c.246C>G (p.Ile82Met) rs1773901440
NM_000165.5(GJA1):c.413G>A (p.Gly138Asp) rs1554201019
NM_000165.5(GJA1):c.416T>A (p.Ile139Asn) rs2114283459
NM_000165.5(GJA1):c.436_441del (p.Lys146_Met147del) rs2114283487
NM_000165.5(GJA1):c.461C>A (p.Thr154Asn)
NM_000165.5(GJA1):c.577C>G (p.Pro193Ala) rs1773907180
NM_000165.5(GJA1):c.602C>A (p.Ser201Tyr) rs2114283819
NM_000165.5(GJA1):c.690T>G (p.Tyr230Ter)
NM_000168.6(GLI3):c.1325_1328dup (p.Ser445fs)
NM_000168.6(GLI3):c.1366G>T (p.Glu456Ter) rs200230864
NM_000168.6(GLI3):c.1622C>T (p.Thr541Met) rs1562667078
NM_000168.6(GLI3):c.1865G>A (p.Ser622Asn) rs2128710024
NM_000168.6(GLI3):c.2110C>T (p.Gln704Ter)
NM_000168.6(GLI3):c.2151del (p.Gln717fs)
NM_000168.6(GLI3):c.2876_2880dup (p.Gly961fs)
NM_000168.6(GLI3):c.367+1G>A
NM_000168.6(GLI3):c.368-1G>C
NM_000168.6(GLI3):c.368-2A>C
NM_000168.6(GLI3):c.827-2A>G rs2128738764
NM_000346.4(SOX9):c.1079dup (p.Gln361fs)
NM_000346.4(SOX9):c.1177C>T (p.Gln393Ter) rs1598176852
NM_000346.4(SOX9):c.1180C>T (p.Arg394Ter) rs1057518216
NM_000346.4(SOX9):c.1225G>T (p.Glu409Ter)
NM_000346.4(SOX9):c.1234C>T (p.Gln412Ter) rs1341243329
NM_000346.4(SOX9):c.1427T>C (p.Met476Thr) rs1057518669
NM_000346.4(SOX9):c.281_310del (p.Arg94_Pro103del) rs1908098789
NM_000346.4(SOX9):c.337A>T (p.Met113Leu)
NM_000346.4(SOX9):c.339G>A (p.Met113Ile) rs2143240113
NM_000346.4(SOX9):c.369dup (p.Ala124fs) rs2143240579
NM_000346.4(SOX9):c.419G>A (p.Gly140Asp) rs2143241065
NM_000346.4(SOX9):c.455G>C (p.Arg152Pro)
NM_000346.4(SOX9):c.503A>G (p.Asp168Gly) rs1908142618
NM_000346.4(SOX9):c.507_508delinsTA (p.Pro170Thr)
NM_000346.4(SOX9):c.508C>A (p.Pro170Thr) rs866706988
NM_000346.4(SOX9):c.508C>G (p.Pro170Ala) rs866706988
NM_000346.4(SOX9):c.508C>T (p.Pro170Ser) rs866706988
NM_000346.4(SOX9):c.515A>G (p.Tyr172Cys) rs1555629158
NM_000346.4(SOX9):c.527C>G (p.Pro176Arg) rs1555629170
NM_000346.4(SOX9):c.529C>T (p.Arg177Trp) rs2143246033
NM_000346.4(SOX9):c.557_560del (p.Gln186fs)
NM_000346.4(SOX9):c.816_817insTCCGTGAC (p.Val273fs)
NM_000346.4(SOX9):c.829G>T (p.Glu277Ter)
NM_000346.4(SOX9):c.957C>G (p.Tyr319Ter) rs1324081394
NM_000540.3(RYR1):c.10828G>T (p.Glu3610Ter)
NM_000540.3(RYR1):c.11359+1del
NM_000540.3(RYR1):c.11608+1G>A
NM_000540.3(RYR1):c.1198G>A (p.Ala400Thr) rs777016690
NM_000540.3(RYR1):c.12095-2A>G
NM_000540.3(RYR1):c.12319del (p.Ile4107fs) rs754572007
NM_000540.3(RYR1):c.12499G>T (p.Glu4167Ter) rs772494345
NM_000540.3(RYR1):c.12978del (p.Glu4327fs) rs1568582893
NM_000540.3(RYR1):c.130C>T (p.Arg44Cys) rs193922748
NM_000540.3(RYR1):c.13667T>C (p.Leu4556Pro)
NM_000540.3(RYR1):c.13913G>T (p.Gly4638Val)
NM_000540.3(RYR1):c.14210G>A (p.Arg4737Gln) rs193922868
NM_000540.3(RYR1):c.14677C>T (p.Arg4893Trp) rs118192150
NM_000540.3(RYR1):c.14678G>T (p.Arg4893Leu)
NM_000540.3(RYR1):c.14761TTC[3] (p.Phe4924del) rs1064794572
NM_000540.3(RYR1):c.2287G>A (p.Val763Met) rs369947687
NM_000540.3(RYR1):c.2449C>T (p.Arg817Ter)
NM_000540.3(RYR1):c.2984G>A (p.Trp995Ter) rs1440262870
NM_000540.3(RYR1):c.3382-1G>A
NM_000540.3(RYR1):c.3494G>A (p.Gly1165Asp) rs559581937
NM_000540.3(RYR1):c.3964_3982dup (p.Asp1328fs) rs1281542312
NM_000540.3(RYR1):c.5988C>T (p.Arg1996=) rs193922787
NM_000540.3(RYR1):c.6500T>G (p.Ile2167Ser)
NM_000540.3(RYR1):c.742G>T (p.Gly248Trp) rs1801086
NM_000540.3(RYR1):c.7835+1G>A rs1057524858
NM_000540.3(RYR1):c.7836-1G>A rs1568507354
NM_000540.3(RYR1):c.7927-1G>T
NM_000540.3(RYR1):c.7954dup (p.Trp2652fs) rs1600842678
NM_000540.3(RYR1):c.8196del (p.Gly2733fs) rs1600844997
NM_000540.3(RYR1):c.8541+1del
NM_000540.3(RYR1):c.8929_8932+4delinsAAGCGG rs1555786205
NM_000540.3(RYR1):c.9625C>T (p.Gln3209Ter)
NM_000540.3(RYR1):c.9886del (p.Leu3296fs)
NM_000612.6(IGF2):c.100G>T (p.Gly34Cys) rs1858937359
NM_000612.6(IGF2):c.106del (p.Glu36fs)
NM_000612.6(IGF2):c.195del (p.Ile66fs) rs1858779370
NM_000612.6(IGF2):c.252T>G (p.Cys84Trp)
NM_000612.6(IGF2):c.357G>A (p.Trp119Ter)
NM_000612.6(IGF2):c.59C>A (p.Ser20Ter) rs142012621
NM_001034852.3(SMOC1):c.1223G>A (p.Cys408Tyr) rs1326644602
NM_001034852.3(SMOC1):c.812G>A (p.Cys271Tyr) rs1566709825
NM_001042681.2(RERE):c.4307TCCACC[3] (p.1436LH[3]) rs1064793252
NM_001134673.4(NFIA):c.106C>T (p.Arg36Ter) rs2100414085
NM_001134673.4(NFIA):c.1086dup (p.Ala363fs) rs2100520890
NM_001134673.4(NFIA):c.1228C>T (p.Gln410Ter) rs1665711818
NM_001134673.4(NFIA):c.149_153del (p.Lys50fs) rs2100414172
NM_001134673.4(NFIA):c.297dup (p.Pro100fs) rs1553149202
NM_001134673.4(NFIA):c.352G>C (p.Asp118His) rs1570123287
NM_001134673.4(NFIA):c.373A>G (p.Lys125Glu) rs769522583
NM_001134673.4(NFIA):c.442G>T (p.Glu148Ter) rs2100414767
NM_001271938.2(MEGF8):c.1741C>T (p.Gln581Ter)
NM_001271938.2(MEGF8):c.1784_1788+3del
NM_001271938.2(MEGF8):c.2971C>T (p.Arg991Ter)
NM_001271938.2(MEGF8):c.319C>T (p.Arg107Ter)
NM_001271938.2(MEGF8):c.3351-2A>C rs2039397653
NM_001271938.2(MEGF8):c.3761+1G>C
NM_001271938.2(MEGF8):c.3761+2T>C
NM_001271938.2(MEGF8):c.3931G>T (p.Glu1311Ter)
NM_001271938.2(MEGF8):c.4830+1G>A
NM_001271938.2(MEGF8):c.7005+1G>T rs1224632697
NM_001271938.2(MEGF8):c.7024G>T (p.Glu2342Ter)
NM_001271938.2(MEGF8):c.739G>T (p.Gly247Cys) rs2039109372
NM_001271938.2(MEGF8):c.7948GTCTTCTTCTCC[1] (p.2650VFFS[1])
NM_001271938.2(MEGF8):c.7961TCT[2] (p.Phe2656del)
NM_001271938.2(MEGF8):c.7970_7972del (p.Ser2657del) rs775004286
NM_001271938.2(MEGF8):c.878T>C (p.Leu293Pro)
NM_001291415.2(KDM6A):c.250A>G (p.Ile84Val) rs1373790479
NM_001292034.3(TAB2):c.1764+1G>A rs1782223593
NM_001330311.2(DVL1):c.1571_1583del (p.Pro524fs) rs1553173420
NM_001330311.2(DVL1):c.1682_1683dup (p.Ser562fs) rs1643642110
NM_001330311.2(DVL1):c.1683_1698del (p.Ser562fs) rs1553173368
NM_001330311.2(DVL1):c.1687_1691dup (p.Ser564fs) rs1553173372
NM_001330311.2(DVL1):c.1698del (p.Ser567fs) rs1553173367
NM_001330311.2(DVL1):c.1715-1G>A rs2100704859
NM_001330311.2(DVL1):c.363-1G>C
NM_001365902.3(NFIX):c.1112del (p.Phe371fs)
NM_001365902.3(NFIX):c.113G>A (p.Arg38His) rs2013223468
NM_001365902.3(NFIX):c.1155_1156delinsAA (p.His386Asn)
NM_001365902.3(NFIX):c.1183del (p.His395fs) rs2145476207
NM_001365902.3(NFIX):c.143T>A (p.Met48Lys) rs1555696484
NM_001365902.3(NFIX):c.143T>C (p.Met48Thr) rs1555696484
NM_001365902.3(NFIX):c.1449del (p.Ile483fs) rs2018057322
NM_001365902.3(NFIX):c.1459del (p.Asp487fs)
NM_001365902.3(NFIX):c.187G>A (p.Glu63Lys)
NM_001365902.3(NFIX):c.195dup (p.Glu66fs)
NM_001365902.3(NFIX):c.220del (p.Arg74fs) rs2013235786
NM_001365902.3(NFIX):c.247_270del (p.Ile83_Asp90del) rs2145192041
NM_001365902.3(NFIX):c.250dup (p.Arg84fs)
NM_001365902.3(NFIX):c.274del (p.Val92fs)
NM_001365902.3(NFIX):c.28-12_28-11insAGCC rs2145190803
NM_001365902.3(NFIX):c.325G>T (p.Asp109Tyr) rs2145192459
NM_001365902.3(NFIX):c.335G>T (p.Gly112Val) rs2145192509
NM_001365902.3(NFIX):c.337A>G (p.Lys113Glu) rs1555696597
NM_001365902.3(NFIX):c.361C>T (p.Arg121Cys) rs797044911
NM_001365902.3(NFIX):c.383G>A (p.Arg128Gln)
NM_001365902.3(NFIX):c.410T>G (p.Phe137Cys)
NM_001365902.3(NFIX):c.467G>C (p.Cys156Ser) rs1555696641
NM_001365902.3(NFIX):c.486C>A (p.Cys162Ter)
NM_001365902.3(NFIX):c.629T>A (p.Leu210Ter)
NM_001365902.3(NFIX):c.637C>T (p.Gln213Ter) rs886041422
NM_001365902.3(NFIX):c.772del (p.Gln258fs) rs2016920143
NM_001365902.3(NFIX):c.818+1G>A rs2016923973
NM_001365902.3(NFIX):c.834del (p.Lys279fs) rs1568318540
NM_001365902.3(NFIX):c.88T>A (p.Trp30Arg)
NM_001365902.3(NFIX):c.912_921dup (p.Gln308fs) rs2145442806
NM_001365902.3(NFIX):c.955+2T>C rs1568318932
NM_001365902.3(NFIX):c.95del (p.Asn32fs)
NM_001375380.1(EBF3):c.577A>G (p.Lys193Glu) rs886040976
NM_001379081.2(FREM1):c.1261+1G>T
NM_001379081.2(FREM1):c.1441del (p.Val481fs)
NM_001379081.2(FREM1):c.1649_1650dup (p.Asp551fs)
NM_001379081.2(FREM1):c.1912dup (p.Asp638fs)
NM_001379081.2(FREM1):c.1934del (p.Pro645fs)
NM_001379081.2(FREM1):c.2079-1G>T
NM_001379081.2(FREM1):c.2212C>T (p.Gln738Ter)
NM_001379081.2(FREM1):c.2687del (p.Met896fs)
NM_001379081.2(FREM1):c.2827_2828delinsT (p.Ala942_Gly943insTer)
NM_001379081.2(FREM1):c.2883C>G (p.Tyr961Ter)
NM_001379081.2(FREM1):c.3165dup (p.Ala1056fs)
NM_001379081.2(FREM1):c.3274+1G>A
NM_001379081.2(FREM1):c.3747dup (p.Thr1250fs)
NM_001379081.2(FREM1):c.3758T>A (p.Leu1253Ter)
NM_001379081.2(FREM1):c.3840-2A>G
NM_001379081.2(FREM1):c.4027C>T (p.Gln1343Ter)
NM_001379081.2(FREM1):c.4200del (p.Lys1400fs)
NM_001379081.2(FREM1):c.4552del (p.Ala1518fs)
NM_001379081.2(FREM1):c.4857+1G>A
NM_001379081.2(FREM1):c.508G>T (p.Glu170Ter)
NM_001379081.2(FREM1):c.5205-1G>T rs1064797351
NM_001379081.2(FREM1):c.5205-2A>G
NM_001379081.2(FREM1):c.5761C>T (p.Gln1921Ter)
NM_001379081.2(FREM1):c.5845-2A>C
NM_001379081.2(FREM1):c.5925_5928del (p.Gln1976fs)
NM_001379081.2(FREM1):c.6105_6121delinsA (p.Ile2036fs)
NM_001379081.2(FREM1):c.6122G>A (p.Trp2041Ter)
NM_001379081.2(FREM1):c.6139-2A>C
NM_001379081.2(FREM1):c.6139-2A>G
NM_001379081.2(FREM1):c.741T>G (p.Tyr247Ter)
NM_001379200.1(TBX1):c.437+1G>C
NM_001379200.1(TBX1):c.503T>C (p.Leu168Pro) rs1936727304
NM_001379200.1(TBX1):c.61G>A (p.Ala21Thr)
NM_001379200.1(TBX1):c.711+1G>A rs1731409120
NM_001395413.1(POR):c.115del (p.Thr39fs)
NM_001395413.1(POR):c.1240-2A>G
NM_001395413.1(POR):c.1320dup (p.Ile441fs) rs786205875
NM_001395413.1(POR):c.1347del (p.Arg450fs)
NM_001395413.1(POR):c.1361G>T (p.Arg454Leu)
NM_001395413.1(POR):c.1477T>C (p.Trp493Arg) rs2116630442
NM_001395413.1(POR):c.1497_1501delinsGCC (p.Ala500fs)
NM_001395413.1(POR):c.1523_1542del (p.Leu508fs)
NM_001395413.1(POR):c.1617del (p.Phe540fs)
NM_001395413.1(POR):c.1685T>C (p.Leu562Pro)
NM_001395413.1(POR):c.1826_1849del (p.Leu609_Trp617delinsArg) rs786205876
NM_001395413.1(POR):c.191_192del (p.Val64fs)
NM_001395413.1(POR):c.40G>T (p.Glu14Ter)
NM_001395413.1(POR):c.671G>A (p.Trp224Ter)
NM_001395413.1(POR):c.723-1G>T
NM_001395413.1(POR):c.768del (p.Lys257fs)
NM_001395413.1(POR):c.808dup (p.Glu270fs)
NM_001395413.1(POR):c.880C>T (p.Gln294Ter)
NM_001429.4(EP300):c.3262-2A>G rs1555910114
NM_001466.4(FZD2):c.1130G>A (p.Trp377Ter) rs1555657045
NM_001466.4(FZD2):c.1300G>A (p.Gly434Ser) rs1223920489
NM_001466.4(FZD2):c.1301G>T (p.Gly434Val) rs1555657073
NM_001466.4(FZD2):c.1301_1302delinsTT (p.Gly434Val) rs1555657074
NM_001822.7(CHN1):c.643G>A (p.Gly215Arg)
NM_001873.4(CPE):c.1208dup (p.Ser404fs)
NM_002501.3(NFIX):c.[346C>T;348G>A]
NM_002524.5(NRAS):c.108A>G (p.Ile36Met) rs2101743991
NM_002524.5(NRAS):c.176C>A (p.Ala59Asp)
NM_002524.5(NRAS):c.182A>C (p.Gln61Pro) rs11554290
NM_002524.5(NRAS):c.204A>T (p.Arg68Ser)
NM_002524.5(NRAS):c.37G>C (p.Gly13Arg) rs121434595
NM_002524.5(NRAS):c.449A>G (p.Gln150Arg) rs2101738598
NM_002655.3(PLAG1):c.441_489del (p.Ser147fs) rs2129224609
NM_002655.3(PLAG1):c.478del (p.Glu160fs)
NM_002655.3(PLAG1):c.589C>T (p.Arg197Ter)
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg) rs886037952
NM_002709.3(PPP1CB):c.493G>A (p.Asp165Asn)
NM_002709.3(PPP1CB):c.493G>C (p.Asp165His)
NM_002709.3(PPP1CB):c.544A>G (p.Met182Val)
NM_002709.3(PPP1CB):c.545T>A (p.Met182Lys)
NM_002745.5(MAPK1):c.244A>G (p.Asn82Asp)
NM_002745.5(MAPK1):c.946T>C (p.Tyr316His)
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_002755.4(MAP2K1):c.608A>G (p.Glu203Gly) rs727503996
NM_002834.5(PTPN11):c.1187A>G (p.Tyr396Cys)
NM_002834.5(PTPN11):c.1271C>T (p.Pro424Leu) rs1592852902
NM_002834.5(PTPN11):c.1282G>T (p.Val428Leu) rs397507536
NM_002834.5(PTPN11):c.1409T>C (p.Ile470Thr) rs2038706856
NM_002834.5(PTPN11):c.1471C>A (p.Pro491Thr) rs397507539
NM_002834.5(PTPN11):c.1471C>G (p.Pro491Ala) rs397507539
NM_002834.5(PTPN11):c.1472C>A (p.Pro491His) rs397507540
NM_002834.5(PTPN11):c.1493G>A (p.Arg498Gln)
NM_002834.5(PTPN11):c.1495T>C (p.Ser499Pro)
NM_002834.5(PTPN11):c.1496C>T (p.Ser499Phe)
NM_002834.5(PTPN11):c.1502G>A (p.Arg501Lys) rs397507543
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)
NM_002834.5(PTPN11):c.155C>T (p.Thr52Ile) rs397507503
NM_002834.5(PTPN11):c.167T>C (p.Ile56Thr) rs1052382672
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.179G>T (p.Gly60Val) rs397507509
NM_002834.5(PTPN11):c.182A>C (p.Asp61Ala) rs121918461
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) rs121918461
NM_002834.5(PTPN11):c.184T>A (p.Tyr62Asn) rs121918460
NM_002834.5(PTPN11):c.184T>C (p.Tyr62His)
NM_002834.5(PTPN11):c.186_188del (p.Tyr63del)
NM_002834.5(PTPN11):c.205G>A (p.Glu69Lys) rs397507511
NM_002834.5(PTPN11):c.206A>T (p.Glu69Val) rs727503380
NM_002834.5(PTPN11):c.209A>G (p.Lys70Arg) rs397516801
NM_002834.5(PTPN11):c.211T>C (p.Phe71Leu) rs397507512
NM_002834.5(PTPN11):c.213T>A (p.Phe71Leu)
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.226G>C (p.Glu76Gln) rs121918464
NM_002834.5(PTPN11):c.235C>A (p.Gln79Lys) rs397516803
NM_002834.5(PTPN11):c.2T>G (p.Met1Arg)
NM_002834.5(PTPN11):c.317A>G (p.Asp106Gly)
NM_002834.5(PTPN11):c.328G>A (p.Glu110Lys) rs397507518
NM_002834.5(PTPN11):c.329A>C (p.Glu110Ala) rs397507519
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002834.5(PTPN11):c.663A>G (p.Ile221Met)
NM_002834.5(PTPN11):c.691C>T (p.Arg231Ter) rs2038154558
NM_002834.5(PTPN11):c.762ACA[4] (p.Gln257dup) rs397507524
NM_002834.5(PTPN11):c.772G>A (p.Glu258Lys) rs1279770165
NM_002834.5(PTPN11):c.774G>T (p.Glu258Asp) rs397516809
NM_002834.5(PTPN11):c.784C>T (p.Leu262Phe)
NM_002834.5(PTPN11):c.787T>A (p.Tyr263Asn)
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.841A>G (p.Asn281Asp)
NM_002834.5(PTPN11):c.846C>G (p.Ile282Met) rs397507530
NM_002834.5(PTPN11):c.853T>G (p.Phe285Val) rs397507531
NM_002880.4(RAF1):c.1082G>C (p.Gly361Ala) rs397516813
NM_002880.4(RAF1):c.1172G>T (p.Arg391Met) rs587782972
NM_002880.4(RAF1):c.1193G>T (p.Arg398Leu) rs730880382
NM_002880.4(RAF1):c.1423T>C (p.Phe475Leu) rs730881003
NM_002880.4(RAF1):c.1457A>G (p.Asp486Gly) rs397516815
NM_002880.4(RAF1):c.1837C>G (p.Leu613Val) rs80338797
NM_002880.4(RAF1):c.285C>G (p.Cys95Trp) rs727503384
NM_002880.4(RAF1):c.452T>C (p.Phe151Ser) rs587782971
NM_002880.4(RAF1):c.505G>C (p.Gly169Arg) rs886039607
NM_002880.4(RAF1):c.524A>G (p.His175Arg) rs397516822
NM_002880.4(RAF1):c.766A>G (p.Arg256Gly) rs397516825
NM_002880.4(RAF1):c.768G>C (p.Arg256Ser) rs397516826
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_002880.4(RAF1):c.775T>A (p.Ser259Thr) rs3730271
NM_002880.4(RAF1):c.775T>C (p.Ser259Pro) rs3730271
NM_002880.4(RAF1):c.775_778delinsAGGG (p.Ser259_Thr260delinsArgAla)
NM_002880.4(RAF1):c.776C>G (p.Ser259Cys) rs397516827
NM_002880.4(RAF1):c.779C>A (p.Thr260Lys) rs869025501
NM_002880.4(RAF1):c.784A>C (p.Asn262His) rs1575573204
NM_002880.4(RAF1):c.788T>A (p.Val263Asp) rs397516830
NM_002880.4(RAF1):c.788T>C (p.Val263Ala) rs397516830
NM_002880.4(RAF1):c.788T>G (p.Val263Gly) rs397516830
NM_003091.4(SNRPB):c.155+301G>C rs786201019
NM_003091.4(SNRPB):c.267+4dup
NM_003106.4(SOX2):c.142T>G (p.Phe48Val)
NM_003106.4(SOX2):c.143T>C (p.Phe48Ser) rs1714843059
NM_003106.4(SOX2):c.22G>T (p.Glu8Ter) rs1208628241
NM_003106.4(SOX2):c.241del (p.Leu81fs)
NM_003106.4(SOX2):c.287G>C (p.Arg96Pro) rs1714847764
NM_003106.4(SOX2):c.330C>G (p.Tyr110Ter) rs2108522196
NM_003106.4(SOX2):c.389G>C (p.Gly130Ala) rs121918652
NM_003106.4(SOX2):c.544C>T (p.Gln182Ter)
NM_003106.4(SOX2):c.600C>G (p.Tyr200Ter) rs1714865486
NM_003106.4(SOX2):c.70_89dup (p.Gly31fs)
NM_003106.4(SOX2):c.758del (p.Pro253fs)
NM_003106.4(SOX2):c.775_778del (p.Ser259fs)
NM_003221.4(TFAP2B):c.707G>A (p.Arg236His) rs1325125531
NM_003221.4(TFAP2B):c.981C>A (p.Cys327Ter)
NM_003392.7(WNT5A):c.247T>G (p.Cys83Gly) rs2106946273
NM_003392.7(WNT5A):c.248G>A (p.Cys83Tyr) rs786200925
NM_003392.7(WNT5A):c.41del (p.Leu14fs) rs2106955417
NM_003392.7(WNT5A):c.461G>T (p.Cys154Phe) rs2051315439
NM_003392.7(WNT5A):c.479C>G (p.Ser160Cys) rs1553677971
NM_003392.7(WNT5A):c.487G>C (p.Gly163Arg) rs587784562
NM_003392.7(WNT5A):c.487_492dup (p.Gly163_Cys164dup) rs1553677967
NM_003392.7(WNT5A):c.544T>C (p.Cys182Arg) rs387906663
NM_003482.4(KMT2D):c.9602dup (p.Ser3202fs) rs1555190375
NM_003483.6(HMGA2):c.44_48del (p.Ala15fs)
NM_003504.5(CDC45):c.203A>G (p.Gln68Arg) rs879255633
NM_003504.5(CDC45):c.204G>A (p.Gln68=)
NM_003504.5(CDC45):c.226A>C (p.Asn76His) rs879255632
NM_003504.5(CDC45):c.893C>T (p.Ala298Val) rs146559223
NM_004153.4(ORC1):c.313C>T (p.Arg105Trp) rs778980446
NM_004153.4(ORC1):c.688dup (p.Thr230fs)
NM_004153.4(ORC1):c.[2483C>T;2484del]
NM_004333.6(BRAF):c.1387A>G (p.Ile463Val) rs1562957000
NM_004333.6(BRAF):c.1391G>A (p.Gly464Glu) rs121913348
NM_004333.6(BRAF):c.1397G>A (p.Gly466Glu) rs121913351
NM_004333.6(BRAF):c.1409C>G (p.Thr470Arg) rs397516891
NM_004333.6(BRAF):c.1449A>C (p.Lys483Asn) rs727504375
NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser) rs397507475
NM_004333.6(BRAF):c.1513C>T (p.Leu505Phe) rs397507477
NM_004333.6(BRAF):c.1743T>A (p.Asn581Lys) rs397516895
NM_004333.6(BRAF):c.1802A>T (p.Lys601Ile) rs397507484
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) rs180177042
NM_004333.6(BRAF):c.2135C>A (p.Ala712Asp) rs727502904
NM_004333.6(BRAF):c.2191C>T (p.Pro731Ser)
NM_004333.6(BRAF):c.722C>T (p.Thr241Met) rs387906660
NM_004333.6(BRAF):c.735A>C (p.Leu245Phe) rs397507466
NM_004333.6(BRAF):c.739T>C (p.Phe247Leu) rs397516903
NM_004333.6(BRAF):c.739T>G (p.Phe247Val) rs397516903
NM_004333.6(BRAF):c.741T>G (p.Phe247Leu) rs397509343
NM_004333.6(BRAF):c.769C>A (p.Gln257Lys) rs397507469
NM_004333.6(BRAF):c.785A>C (p.Gln262Pro) rs397516904
NM_004333.6(BRAF):c.793G>C (p.Gly265Arg) rs397516905
NM_004333.6(BRAF):c.823G>A (p.Glu275Lys) rs2129044284
NM_004423.4(DVL3):c.1473C>G (p.Tyr491Ter) rs2109022762
NM_004423.4(DVL3):c.1617del (p.Gln539fs) rs1553811652
NM_004423.4(DVL3):c.1715-1G>A rs869025217
NM_004423.4(DVL3):c.1715-1G>C rs869025217
NM_004423.4(DVL3):c.1715-2del rs2109023862
NM_004423.4(DVL3):c.292del (p.Glu98fs)
NM_004525.3(LRP2):c.10501C>T (p.Gln3501Ter)
NM_004525.3(LRP2):c.10529_10536del (p.Pro3510fs)
NM_004525.3(LRP2):c.10572-1G>C
NM_004525.3(LRP2):c.11323C>T (p.Arg3775Ter) rs372938477
NM_004525.3(LRP2):c.11363C>G (p.Ser3788Ter)
NM_004525.3(LRP2):c.11483A>G (p.Asp3828Gly)
NM_004525.3(LRP2):c.11635+1G>A
NM_004525.3(LRP2):c.11648del (p.Cys3883fs)
NM_004525.3(LRP2):c.11868del (p.Trp3956fs)
NM_004525.3(LRP2):c.12019+1G>A
NM_004525.3(LRP2):c.12316C>T (p.Arg4106Ter)
NM_004525.3(LRP2):c.12445del (p.Val4149fs)
NM_004525.3(LRP2):c.12623C>A (p.Pro4208His) rs2105348670
NM_004525.3(LRP2):c.13139del (p.Pro4380fs) rs80338754
NM_004525.3(LRP2):c.13139dup (p.Cys4381fs) rs80338754
NM_004525.3(LRP2):c.13140dup (p.Cys4381fs)
NM_004525.3(LRP2):c.13291_13295dup (p.Leu4433fs)
NM_004525.3(LRP2):c.1341+1G>A
NM_004525.3(LRP2):c.13568del (p.Asn4523fs) rs1685554004
NM_004525.3(LRP2):c.13605_13620+17del
NM_004525.3(LRP2):c.13620+1G>A
NM_004525.3(LRP2):c.13620+1G>T
NM_004525.3(LRP2):c.1566-2A>G
NM_004525.3(LRP2):c.2006del (p.Gly669fs)
NM_004525.3(LRP2):c.223C>T (p.Gln75Ter)
NM_004525.3(LRP2):c.2557del (p.Arg853fs)
NM_004525.3(LRP2):c.279_280del (p.Cys93_Asp94delinsTer)
NM_004525.3(LRP2):c.2909-1G>T
NM_004525.3(LRP2):c.3171dup (p.Gln1058fs)
NM_004525.3(LRP2):c.3307_3313delinsTGCCTTGA (p.Thr1103fs)
NM_004525.3(LRP2):c.3431-2A>G
NM_004525.3(LRP2):c.3571C>T (p.Gln1191Ter)
NM_004525.3(LRP2):c.427+1del
NM_004525.3(LRP2):c.4797G>A (p.Trp1599Ter)
NM_004525.3(LRP2):c.5030C>A (p.Ser1677Ter)
NM_004525.3(LRP2):c.5857C>T (p.Arg1953Ter)
NM_004525.3(LRP2):c.6673C>T (p.Arg2225Ter) rs866520787
NM_004525.3(LRP2):c.7564T>C (p.Tyr2522His) rs80338747
NM_004525.3(LRP2):c.7840A>T (p.Arg2614Ter) rs2105329431
NM_004525.3(LRP2):c.8095C>T (p.Arg2699Ter) rs1236195196
NM_004525.3(LRP2):c.8144_8156del (p.Glu2715fs)
NM_004525.3(LRP2):c.8209+1G>C
NM_004525.3(LRP2):c.8274C>A (p.Tyr2758Ter)
NM_004525.3(LRP2):c.832C>T (p.Arg278Ter) rs1358532875
NM_004525.3(LRP2):c.857G>T (p.Cys286Phe) rs2105467271
NM_004525.3(LRP2):c.8830+1G>A
NM_004525.3(LRP2):c.9032+1del
NM_004525.3(LRP2):c.9235G>T (p.Glu3079Ter)
NM_004525.3(LRP2):c.9282C>A (p.Cys3094Ter)
NM_004525.3(LRP2):c.9550C>T (p.Arg3184Ter)
NM_004525.3(LRP2):c.9689_9690dup (p.Ala3231fs)
NM_004560.4(ROR2):c.1083dup (p.His362fs)
NM_004560.4(ROR2):c.1096C>T (p.Arg366Trp) rs2118683688
NM_004560.4(ROR2):c.1100A>T (p.Asn367Ile) rs2118683614
NM_004560.4(ROR2):c.1137del (p.Gln380fs)
NM_004560.4(ROR2):c.1516A>T (p.Ile506Phe) rs2118626297
NM_004560.4(ROR2):c.1565_1569delinsTGTA (p.Arg522fs) rs1587655016
NM_004560.4(ROR2):c.1582C>T (p.Arg528Ter) rs1448877786
NM_004560.4(ROR2):c.1855C>A (p.Arg619Ser) rs1489361512
NM_004560.4(ROR2):c.1855del (p.Arg619fs)
NM_004560.4(ROR2):c.1856G>A (p.Arg619His)
NM_004560.4(ROR2):c.2018C>G (p.Ser673Ter)
NM_004560.4(ROR2):c.2074C>A (p.Pro692Thr) rs2118616453
NM_004560.4(ROR2):c.2207G>A (p.Arg736Gln) rs980417569
NM_004560.4(ROR2):c.2215T>C (p.Phe739Leu) rs767802430
NM_004560.4(ROR2):c.2353del (p.Arg785fs)
NM_004560.4(ROR2):c.248G>A (p.Cys83Tyr) rs1434209233
NM_004560.4(ROR2):c.323G>A (p.Arg108Gln) rs1587690611
NM_004560.4(ROR2):c.494+4_494+7del rs2118839436
NM_004560.4(ROR2):c.550C>T (p.Arg184Cys) rs121909084
NM_004560.4(ROR2):c.623-11G>A rs1350375399
NM_004560.4(ROR2):c.640G>C (p.Gly214Arg)
NM_004560.4(ROR2):c.717C>A (p.Cys239Ter) rs56302651
NM_004560.4(ROR2):c.799G>T (p.Glu267Ter)
NM_004560.4(ROR2):c.854A>G (p.Lys285Arg)
NM_004560.4(ROR2):c.899G>T (p.Cys300Phe) rs2118699409
NM_004982.4(KCNJ8):c.712G>A (p.Gly238Arg)
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.202A>T (p.Arg68Trp)
NM_004985.5(KRAS):c.202_204del (p.Arg68del) rs1951405809
NM_004985.5(KRAS):c.221C>T (p.Thr74Ile) rs1951405479
NM_004985.5(KRAS):c.229G>T (p.Gly77Cys) rs2141509652
NM_004985.5(KRAS):c.440A>T (p.Lys147Met)
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_005188.4(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_005199.5(CHRNG):c.1010_1011del (p.His337fs)
NM_005199.5(CHRNG):c.1035+2C>A
NM_005199.5(CHRNG):c.1035+2C>G
NM_005199.5(CHRNG):c.1081_1102del (p.Pro361fs)
NM_005199.5(CHRNG):c.11dup (p.Gln5fs)
NM_005199.5(CHRNG):c.1256_1263del (p.Gly419fs)
NM_005199.5(CHRNG):c.1354del (p.Arg452fs)
NM_005199.5(CHRNG):c.1366_1367del (p.His457fs) rs1309599304
NM_005199.5(CHRNG):c.1380+1G>A
NM_005199.5(CHRNG):c.145del (p.Asp49fs)
NM_005199.5(CHRNG):c.166A>T (p.Lys56Ter)
NM_005199.5(CHRNG):c.240+1del rs777809198
NM_005199.5(CHRNG):c.246G>A (p.Trp82Ter)
NM_005199.5(CHRNG):c.249C>A (p.Cys83Ter)
NM_005199.5(CHRNG):c.257G>A (p.Arg86His)
NM_005199.5(CHRNG):c.292_300dup (p.Leu100_Arg101insTrpValLeu)
NM_005199.5(CHRNG):c.2T>C (p.Met1Thr)
NM_005199.5(CHRNG):c.320T>G (p.Val107Gly) rs267606726
NM_005199.5(CHRNG):c.350+2T>C
NM_005199.5(CHRNG):c.351-2A>G
NM_005199.5(CHRNG):c.351-9T>C rs764382582
NM_005199.5(CHRNG):c.402del (p.Asp135fs)
NM_005199.5(CHRNG):c.493_494delinsCAGTGAGGCCATTTATTGGGGAGG (p.Ser165delinsGlnTer)
NM_005199.5(CHRNG):c.532_533del (p.Glu177_Ile178insTer)
NM_005199.5(CHRNG):c.613G>T (p.Glu205Ter) rs2106221597
NM_005199.5(CHRNG):c.710_711delinsAA (p.Ile237Lys) rs1574645121
NM_005199.5(CHRNG):c.754del (p.Cys252fs)
NM_005199.5(CHRNG):c.805+1G>A
NM_005199.5(CHRNG):c.895T>A (p.Ser299Thr) rs2106221995
NM_005199.5(CHRNG):c.920+2_920+5del
NM_005343.4(HRAS):c.181C>A (p.Gln61Lys) rs28933406
NM_005343.4(HRAS):c.183G>T (p.Gln61His) rs121913496
NM_005522.5(HOXA1):c.669C>A (p.Tyr223Ter) rs769512832
NM_005573.4(LMNB1):c.814-1G>T
NM_005631.5(SMO):c.1198C>T (p.Arg400Cys) rs766211091
NM_005631.5(SMO):c.754T>C (p.Phe252Leu) rs1793751061
NM_005633.4(SOS1):c.1009T>C (p.Tyr337His) rs2124562542
NM_005633.4(SOS1):c.1132A>G (p.Thr378Ala) rs397517146
NM_005633.4(SOS1):c.1293_1294delinsGA (p.Trp432Arg) rs1572830693
NM_005633.4(SOS1):c.1300G>A (p.Gly434Arg) rs397517148
NM_005633.4(SOS1):c.1310T>A (p.Ile437Asn) rs397517150
NM_005633.4(SOS1):c.1310T>C (p.Ile437Thr) rs397517150
NM_005633.4(SOS1):c.1310T>G (p.Ile437Ser) rs397517150
NM_005633.4(SOS1):c.1430A>G (p.Gln477Arg) rs730881044
NM_005633.4(SOS1):c.1477A>G (p.Lys493Glu)
NM_005633.4(SOS1):c.1642A>G (p.Ser548Gly)
NM_005633.4(SOS1):c.1653_1655del (p.Arg552del) rs1572830219
NM_005633.4(SOS1):c.1655G>T (p.Arg552Met) rs397517154
NM_005633.4(SOS1):c.1708_1713del (p.Pro570_Ser571del)
NM_005633.4(SOS1):c.1867T>G (p.Phe623Val) rs727505093
NM_005633.4(SOS1):c.2183A>T (p.Lys728Ile) rs397517156
NM_005633.4(SOS1):c.2197A>T (p.Ile733Phe) rs574088829
NM_005633.4(SOS1):c.253T>C (p.Trp85Arg) rs730881054
NM_005633.4(SOS1):c.2671G>A (p.Glu891Lys) rs1553353452
NM_005633.4(SOS1):c.3022T>C (p.Tyr1008His) rs397517163
NM_005633.4(SOS1):c.305C>G (p.Pro102Arg) rs1553362937
NM_005633.4(SOS1):c.305C>T (p.Pro102Leu)
NM_005633.4(SOS1):c.322G>A (p.Glu108Lys) rs397517164
NM_005633.4(SOS1):c.3248dup (p.Arg1084fs) rs387906518
NM_005633.4(SOS1):c.335C>G (p.Pro112Arg) rs397517166
NM_005633.4(SOS1):c.445G>A (p.Val149Ile)
NM_005633.4(SOS1):c.512T>C (p.Val171Ala) rs397517174
NM_005633.4(SOS1):c.697A>T (p.Asn233Tyr) rs1057519963
NM_005633.4(SOS1):c.805A>G (p.Met269Val)
NM_005633.4(SOS1):c.806T>A (p.Met269Lys)
NM_005633.4(SOS1):c.925G>A (p.Asp309Asn) rs397517180
NM_005857.5(ZMPSTE24):c.1259_1270dup (p.Lys423_Lys424insThrPheAlaLys)
NM_005857.5(ZMPSTE24):c.709G>T (p.Glu237Ter) rs281875370
NM_005996.4(TBX3):c.1039+1G>A rs1868706209
NM_005996.4(TBX3):c.1170dup (p.Ala391fs)
NM_005996.4(TBX3):c.1921_1922insG (p.Pro641fs)
NM_005996.4(TBX3):c.309dup (p.Lys104fs)
NM_005996.4(TBX3):c.337T>G (p.Trp113Gly) rs2121158390
NM_005996.4(TBX3):c.389+1G>T
NM_005996.4(TBX3):c.400C>G (p.Pro134Ala)
NM_005996.4(TBX3):c.945del (p.Ser316fs)
NM_005996.4(TBX3):c.961dup (p.Ser321fs)
NM_006147.4(IRF6):c.1060+1G>A rs781506407
NM_006147.4(IRF6):c.1060+2T>C
NM_006147.4(IRF6):c.1121G>A (p.Cys374Tyr) rs2077857680
NM_006147.4(IRF6):c.1210G>A (p.Glu404Lys) rs769068305
NM_006147.4(IRF6):c.134G>A (p.Arg45Gln) rs121434229
NM_006147.4(IRF6):c.169T>C (p.Phe57Leu) rs2077939791
NM_006147.4(IRF6):c.175G>T (p.Ala59Ser)
NM_006147.4(IRF6):c.232A>G (p.Lys78Glu) rs1553248271
NM_006147.4(IRF6):c.269G>C (p.Ser90Thr) rs2102542857
NM_006147.4(IRF6):c.292G>C (p.Asp98His) rs1571983348
NM_006147.4(IRF6):c.329T>C (p.Ile110Thr)
NM_006147.4(IRF6):c.509-1G>A
NM_006147.4(IRF6):c.760G>A (p.Gly254Arg)
NM_006147.4(IRF6):c.827T>C (p.Phe276Ser)
NM_006147.4(IRF6):c.859C>T (p.Gln287Ter) rs886039391
NM_006147.4(IRF6):c.889G>A (p.Val297Ile) rs779827384
NM_006147.4(IRF6):c.911T>C (p.Leu304Pro) rs1064793154
NM_006147.4(IRF6):c.928G>C (p.Ala310Pro)
NM_006147.4(IRF6):c.950G>A (p.Cys317Tyr) rs1571979607
NM_006147.4(IRF6):c.961G>A (p.Val321Met) rs2102536882
NM_006506.5(RASA2):c.716C>T (p.Ser239Phe)
NM_006767.4(LZTR1):c.1009del (p.Val337fs)
NM_006767.4(LZTR1):c.102_105del (p.Cys34fs)
NM_006767.4(LZTR1):c.1030del (p.Ser344fs) rs1555928249
NM_006767.4(LZTR1):c.104C>A (p.Ser35Ter)
NM_006767.4(LZTR1):c.1078A>T (p.Lys360Ter) rs751308379
NM_006767.4(LZTR1):c.1150-1G>A
NM_006767.4(LZTR1):c.1260+1G>T
NM_006767.4(LZTR1):c.1500del (p.Ala501fs)
NM_006767.4(LZTR1):c.1682G>A (p.Arg561His) rs970027059
NM_006767.4(LZTR1):c.200+1G>C
NM_006767.4(LZTR1):c.200+1G>T
NM_006767.4(LZTR1):c.2076T>A (p.Phe692Leu)
NM_006767.4(LZTR1):c.2090G>A (p.Arg697Gln) rs370638947
NM_006767.4(LZTR1):c.2223C>G (p.Tyr741Ter)
NM_006767.4(LZTR1):c.2238del (p.Tyr747fs)
NM_006767.4(LZTR1):c.2244C>G (p.Tyr748Ter) rs1682503990
NM_006767.4(LZTR1):c.273_274delinsAA (p.Met91_Leu92delinsIleIle)
NM_006767.4(LZTR1):c.27dup (p.Gln10fs) rs587777613
NM_006767.4(LZTR1):c.309C>A (p.Cys103Ter)
NM_006767.4(LZTR1):c.320+1G>C rs943939913
NM_006767.4(LZTR1):c.416A>G (p.Asp139Gly)
NM_006767.4(LZTR1):c.421del (p.Tyr141fs)
NM_006767.4(LZTR1):c.423T>G (p.Tyr141Ter)
NM_006767.4(LZTR1):c.438dup (p.Lys147fs) rs2147961992
NM_006767.4(LZTR1):c.649G>T (p.Glu217Ter) rs1302923931
NM_006767.4(LZTR1):c.674C>T (p.Pro225Leu)
NM_006767.4(LZTR1):c.685T>C (p.Cys229Arg) rs886041925
NM_006767.4(LZTR1):c.690C>G (p.Asn230Lys)
NM_006767.4(LZTR1):c.722T>C (p.Phe241Ser) rs1423756155
NM_006767.4(LZTR1):c.730T>C (p.Ser244Pro) rs1601718760
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg) rs869320686
NM_006767.4(LZTR1):c.743G>A (p.Gly248Glu) rs2147964105
NM_006767.4(LZTR1):c.743G>T (p.Gly248Val)
NM_006767.4(LZTR1):c.844C>T (p.Gln282Ter)
NM_006767.4(LZTR1):c.855C>A (p.Tyr285Ter)
NM_006767.4(LZTR1):c.993+2T>C
NM_006912.6(RIT1):c.113C>A (p.Thr38Asn)
NM_006912.6(RIT1):c.113C>G (p.Thr38Ser) rs2102590960
NM_006912.6(RIT1):c.116T>G (p.Met39Arg) rs2102590945
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.230C>G (p.Ala77Gly) rs1673399238
NM_006912.6(RIT1):c.233G>A (p.Gly78Glu) rs1557960268
NM_006912.6(RIT1):c.235C>G (p.Gln79Glu)
NM_006912.6(RIT1):c.242A>G (p.Glu81Gly) rs869025193
NM_006912.6(RIT1):c.244T>G (p.Phe82Val) rs869025194
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.260A>C (p.Asp87Ala)
NM_006912.6(RIT1):c.268A>C (p.Met90Leu) rs1557960039
NM_006912.6(RIT1):c.268A>G (p.Met90Val)
NM_006912.6(RIT1):c.269T>C (p.Met90Thr)
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.365G>T (p.Arg122Leu) rs777520196
NM_006912.6(RIT1):c.91G>C (p.Gly31Arg) rs1571999498
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.1127C>T (p.Thr376Ile)
NM_006939.4(SOS2):c.791C>A (p.Thr264Lys)
NM_006939.4(SOS2):c.791C>G (p.Thr264Arg)
NM_006939.4(SOS2):c.798_800delinsCAA (p.Glu266_Met267delinsAspLys) rs1885777585
NM_006939.4(SOS2):c.800T>G (p.Met267Arg)
NM_007373.4(SHOC2):c.157G>A (p.Gly53Arg) rs2134121169
NM_007373.4(SHOC2):c.517A>G (p.Met173Val) rs1057518206
NM_007373.4(SHOC2):c.519G>A (p.Met173Ile) rs730881020
NM_007373.4(SHOC2):c.520C>T (p.Leu174Phe) rs2134121762
NM_007373.4(SHOC2):c.806A>G (p.Gln269Arg) rs864309599
NM_012250.6(RRAS2):c.439C>T (p.Arg147Trp)
NM_012250.6(RRAS2):c.67G>A (p.Gly23Ser)
NM_012431.3(SEMA3E):c.621del (p.Arg208fs) rs2115654665
NM_014285.7(EXOSC2):c.611G>A (p.Trp204Ter)
NM_014285.7(EXOSC2):c.673-1G>T rs1465736368
NM_014321.4(ORC6):c.360-1G>T
NM_014991.6(WDFY3):c.1670T>C (p.Leu557Pro) rs1753844425
NM_014991.6(WDFY3):c.2785C>T (p.Arg929Ter)
NM_014991.6(WDFY3):c.290C>G (p.Ser97Ter)
NM_014991.6(WDFY3):c.5114_5115del (p.Lys1705fs) rs2149390162
NM_014991.6(WDFY3):c.5825C>T (p.Ser1942Leu)
NM_014991.6(WDFY3):c.7304dup (p.Tyr2435Ter)
NM_014991.6(WDFY3):c.8287C>T (p.Arg2763Ter) rs750764507
NM_014991.6(WDFY3):c.8693del (p.Leu2898fs)
NM_014991.6(WDFY3):c.8901+1G>A
NM_014991.6(WDFY3):c.9496C>T (p.Arg3166Ter) rs866536893
NM_014991.6(WDFY3):c.957-2A>G rs1754957238
NM_015559.3(SETBP1):c.1414_1417del (p.Glu472fs)
NM_015559.3(SETBP1):c.1955_1956dup (p.Gly653fs)
NM_015559.3(SETBP1):c.2561C>A (p.Ser854Tyr) rs2071362354
NM_015559.3(SETBP1):c.2563C>A (p.Pro855Thr) rs2145105580
NM_015559.3(SETBP1):c.2601C>A (p.Ser867Arg)
NM_015559.3(SETBP1):c.2602G>C (p.Asp868His) rs267607042
NM_015559.3(SETBP1):c.2982C>G (p.Tyr994Ter) rs2071377438
NM_015895.5(GMNN):c.50A>G (p.Lys17Arg) rs864309488
NM_016111.4(TELO2):c.2226+1G>C
NM_016111.4(TELO2):c.946C>T (p.Gln316Ter)
NM_016277.5(RAB23):c.156-1G>C rs373724159
NM_016277.5(RAB23):c.174_241+587delinsTTATCATTAA
NM_016277.5(RAB23):c.315_316del (p.Lys106fs)
NM_016277.5(RAB23):c.358_398+177delinsGGTGTACAGTTG rs2127998544
NM_016277.5(RAB23):c.394A>T (p.Lys132Ter)
NM_016277.5(RAB23):c.399-2A>G
NM_016277.5(RAB23):c.481+1G>A
NM_016277.5(RAB23):c.482-1G>A
NM_016277.5(RAB23):c.482-1_486del rs2127997697
NM_016277.5(RAB23):c.559del (p.Ser187fs) rs2127997645
NM_017613.4(DONSON):c.48del (p.Glu17fs) rs2145910302
NM_017780.4(CHD7):c.-15G>A
NM_017780.4(CHD7):c.1339C>T (p.Gln447Ter) rs2150580758
NM_017780.4(CHD7):c.1342_1343del (p.Arg448fs) rs1554581674
NM_017780.4(CHD7):c.1597_1598insT (p.His533fs) rs1554581814
NM_017780.4(CHD7):c.1735C>T (p.Gln579Ter) rs780953224
NM_017780.4(CHD7):c.186_190dup (p.Thr64fs)
NM_017780.4(CHD7):c.1953dup (p.Asp652fs) rs2150669843
NM_017780.4(CHD7):c.2061_2065dup (p.Thr689fs)
NM_017780.4(CHD7):c.2238G>C (p.Gln746His)
NM_017780.4(CHD7):c.2352dup (p.Asn785fs)
NM_017780.4(CHD7):c.2377-1G>A rs2150711063
NM_017780.4(CHD7):c.2377G>T (p.Glu793Ter)
NM_017780.4(CHD7):c.2440C>T (p.Gln814Ter) rs1554593049
NM_017780.4(CHD7):c.2442+1G>A rs1085307582
NM_017780.4(CHD7):c.2487_2488insCCATC (p.Tyr830fs)
NM_017780.4(CHD7):c.2544del (p.Asp849fs)
NM_017780.4(CHD7):c.2546A>G (p.Asp849Gly)
NM_017780.4(CHD7):c.2572C>T (p.Arg858Ter) rs1563625351
NM_017780.4(CHD7):c.2601_2602insACAA (p.Phe868fs)
NM_017780.4(CHD7):c.2613+1G>T rs587783432
NM_017780.4(CHD7):c.2613+1del rs1060503189
NM_017780.4(CHD7):c.2613G>T (p.Glu871Asp) rs2150739129
NM_017780.4(CHD7):c.2698-1G>T
NM_017780.4(CHD7):c.2910_2925del (p.Glu970_Tyr971insTer) rs1554597507
NM_017780.4(CHD7):c.2915A>G (p.Gln972Arg) rs1554597512
NM_017780.4(CHD7):c.2990T>C (p.Leu997Ser) rs2150750132
NM_017780.4(CHD7):c.3082A>G (p.Ile1028Val) rs121434338
NM_017780.4(CHD7):c.3094_3114del (p.Glu1032_Trp1038del) rs1804098493
NM_017780.4(CHD7):c.3106C>T (p.Arg1036Ter) rs1554597716
NM_017780.4(CHD7):c.3201+1G>A rs1804103264
NM_017780.4(CHD7):c.3202-3T>G rs1060503183
NM_017780.4(CHD7):c.3205C>T (p.Arg1069Ter) rs886040985
NM_017780.4(CHD7):c.3209del (p.Val1070fs) rs1554597952
NM_017780.4(CHD7):c.3226A>G (p.Lys1076Glu) rs1804153455
NM_017780.4(CHD7):c.3241A>T (p.Ile1081Phe) rs768184220
NM_017780.4(CHD7):c.3248C>T (p.Thr1083Ile) rs1804154342
NM_017780.4(CHD7):c.3269_3272del (p.Asp1090fs)
NM_017780.4(CHD7):c.3295T>C (p.Trp1099Arg) rs1586393514
NM_017780.4(CHD7):c.3302G>A (p.Cys1101Tyr) rs1554598013
NM_017780.4(CHD7):c.3379-2A>C rs864622523
NM_017780.4(CHD7):c.3398C>T (p.Thr1133Met) rs1064793083
NM_017780.4(CHD7):c.3478del (p.Thr1160fs)
NM_017780.4(CHD7):c.3523-19A>T
NM_017780.4(CHD7):c.3523-2A>C rs2150764574
NM_017780.4(CHD7):c.3606_3616dup (p.Ile1206fs) rs1554599462
NM_017780.4(CHD7):c.3616del (p.Ile1206fs) rs1804454376
NM_017780.4(CHD7):c.3623T>A (p.Val1208Asp) rs886040988
NM_017780.4(CHD7):c.3642G>T (p.Gln1214His)
NM_017780.4(CHD7):c.3688del (p.Ser1230fs)
NM_017780.4(CHD7):c.3751T>C (p.Cys1251Arg)
NM_017780.4(CHD7):c.3757_3778+7del
NM_017780.4(CHD7):c.378C>A (p.Tyr126Ter) rs1563559596
NM_017780.4(CHD7):c.3818del (p.His1273fs)
NM_017780.4(CHD7):c.3937T>C (p.Ser1313Pro)
NM_017780.4(CHD7):c.3989+2T>G
NM_017780.4(CHD7):c.4033C>T (p.Arg1345Cys) rs1563644113
NM_017780.4(CHD7):c.4034G>A (p.Arg1345His)
NM_017780.4(CHD7):c.4195A>G (p.Arg1399Gly) rs1586419356
NM_017780.4(CHD7):c.4218C>A (p.Ser1406Arg) rs1804800800
NM_017780.4(CHD7):c.4247C>G (p.Thr1416Arg) rs770166812
NM_017780.4(CHD7):c.4259A>G (p.Tyr1420Cys)
NM_017780.4(CHD7):c.4353+3A>G rs587783441
NM_017780.4(CHD7):c.4354-6A>G
NM_017780.4(CHD7):c.4480C>T (p.Arg1494Ter) rs587783442
NM_017780.4(CHD7):c.4533+1G>C
NM_017780.4(CHD7):c.4644+1G>T
NM_017780.4(CHD7):c.4644+5G>C
NM_017780.4(CHD7):c.4669A>G (p.Arg1557Gly) rs1804990594
NM_017780.4(CHD7):c.4787A>T (p.Asp1596Val) rs1057521078
NM_017780.4(CHD7):c.4835del (p.Asn1612fs) rs1554601654
NM_017780.4(CHD7):c.4853G>A (p.Trp1618Ter)
NM_017780.4(CHD7):c.4928G>A (p.Cys1643Tyr)
NM_017780.4(CHD7):c.4985del (p.Ser1662fs) rs1060499937
NM_017780.4(CHD7):c.4995G>A (p.Trp1665Ter)
NM_017780.4(CHD7):c.5050G>T (p.Gly1684Cys)
NM_017780.4(CHD7):c.5051_5095del (p.Gly1684_Lys1699delinsGlu) rs2150793887
NM_017780.4(CHD7):c.5210+1G>A rs2150794309
NM_017780.4(CHD7):c.5210+2T>C rs1554602587
NM_017780.4(CHD7):c.5210+3A>G rs1554602588
NM_017780.4(CHD7):c.5211-2_5227del rs1805310101
NM_017780.4(CHD7):c.5227C>T (p.Arg1743Cys)
NM_017780.4(CHD7):c.5300+216_5386delinsATCCAAACACACCATGT
NM_017780.4(CHD7):c.5355G>A (p.Trp1785Ter) rs1554603276
NM_017780.4(CHD7):c.5381T>C (p.Leu1794Pro) rs1064795943
NM_017780.4(CHD7):c.5404+2T>C
NM_017780.4(CHD7):c.5404G>A (p.Gly1802Ser) rs1554603293
NM_017780.4(CHD7):c.5409T>G (p.Tyr1803Ter) rs1021645395
NM_017780.4(CHD7):c.5436C>G (p.Asp1812Glu)
NM_017780.4(CHD7):c.5450T>G (p.Phe1817Cys) rs587783445
NM_017780.4(CHD7):c.5480del (p.Lys1827fs)
NM_017780.4(CHD7):c.5504_5508delinsT (p.Gly1835fs) rs1586440620
NM_017780.4(CHD7):c.5534G>A (p.Gly1845Glu)
NM_017780.4(CHD7):c.5607+1G>A rs1554603672
NM_017780.4(CHD7):c.5744G>A (p.Arg1915Gln) rs1024600310
NM_017780.4(CHD7):c.5894+1G>T
NM_017780.4(CHD7):c.5894+5G>A rs1805486327
NM_017780.4(CHD7):c.5944G>T (p.Gly1982Trp) rs1563659678
NM_017780.4(CHD7):c.5955del (p.Phe1985fs)
NM_017780.4(CHD7):c.6035A>T (p.Glu2012Val) rs1805504949
NM_017780.4(CHD7):c.6079C>T (p.Arg2027Ter) rs886040995
NM_017780.4(CHD7):c.6104-2A>T rs1805513214
NM_017780.4(CHD7):c.6186dup (p.Lys2063fs)
NM_017780.4(CHD7):c.6193C>G (p.Arg2065Gly) rs1064794250
NM_017780.4(CHD7):c.6193C>T (p.Arg2065Cys) rs1064794250
NM_017780.4(CHD7):c.6208dup (p.His2070fs)
NM_017780.4(CHD7):c.6236del (p.Lys2079fs)
NM_017780.4(CHD7):c.6287A>G (p.His2096Arg) rs587783451
NM_017780.4(CHD7):c.6369CTT[1] (p.Phe2124del)
NM_017780.4(CHD7):c.6371T>C (p.Phe2124Ser)
NM_017780.4(CHD7):c.6561T>A (p.Cys2187Ter) rs1586446578
NM_017780.4(CHD7):c.6734del (p.Leu2245fs) rs1563661595
NM_017780.4(CHD7):c.6776-1G>A
NM_017780.4(CHD7):c.6936+2T>C
NM_017780.4(CHD7):c.709del (p.His237fs) rs1809063870
NM_017780.4(CHD7):c.7164+1G>A rs2129644267
NM_017780.4(CHD7):c.7285G>T (p.Glu2429Ter) rs773047607
NM_017780.4(CHD7):c.7312C>G (p.Gln2438Glu) rs1060503188
NM_017780.4(CHD7):c.7320del (p.Val2441fs) rs2129649243
NM_017780.4(CHD7):c.7390_7419del (p.Lys2464_Pro2473del) rs2129650387
NM_017780.4(CHD7):c.7504dup (p.Leu2502fs)
NM_017780.4(CHD7):c.7593dup (p.Thr2532fs) rs1805743392
NM_017780.4(CHD7):c.7648G>T (p.Glu2550Ter) rs1554605973
NM_017780.4(CHD7):c.7800_7801dup (p.Tyr2601fs)
NM_017780.4(CHD7):c.7802dup (p.Tyr2601Ter) rs886040998
NM_017780.4(CHD7):c.7803C>G (p.Tyr2601Ter) rs1563669432
NM_017780.4(CHD7):c.7971+1G>T rs1554606274
NM_017780.4(CHD7):c.8063T>G (p.Ile2688Arg) rs755066542
NM_017780.4(CHD7):c.8087del (p.Pro2696fs) rs1554606910
NM_017780.4(CHD7):c.8509G>T (p.Glu2837Ter)
NM_017780.4(CHD7):c.862C>T (p.Gln288Ter) rs1554581399
NM_017780.4(CHD7):c.8896G>T (p.Ala2966Ser)
NM_017780.4(CHD7):c.925C>T (p.Gln309Ter) rs1436515577
NM_019066.5(MAGEL2):c.1015C>T (p.Gln339Ter) rs2140717180
NM_019066.5(MAGEL2):c.1104G>A (p.Trp368Ter) rs2140717041
NM_019066.5(MAGEL2):c.1597del (p.Ala533fs)
NM_019066.5(MAGEL2):c.1621C>T (p.Gln541Ter) rs1555374290
NM_019066.5(MAGEL2):c.1656del (p.Ala553fs)
NM_019066.5(MAGEL2):c.1687C>T (p.Gln563Ter) rs2140715275
NM_019066.5(MAGEL2):c.1808C>G (p.Ser603Ter) rs1595332731
NM_019066.5(MAGEL2):c.1923dup (p.Val643fs)
NM_019066.5(MAGEL2):c.1984C>T (p.Gln662Ter)
NM_019066.5(MAGEL2):c.2055del (p.Trp686fs)
NM_019066.5(MAGEL2):c.2057G>A (p.Trp686Ter) rs768844200
NM_019066.5(MAGEL2):c.2319del (p.Ala772_Trp773insTer)
NM_019066.5(MAGEL2):c.2646del (p.Gly883fs) rs2140713406
NM_019066.5(MAGEL2):c.2745dup (p.Asn916fs)
NM_019066.5(MAGEL2):c.2840delinsTTT (p.Glu947fs)
NM_019066.5(MAGEL2):c.2847_2883del (p.Ser950fs) rs1890358679
NM_019066.5(MAGEL2):c.2945_2946del (p.Leu981_Ser982insTer) rs1890356742
NM_019066.5(MAGEL2):c.3131C>A (p.Ser1044Ter) rs1267004913
NM_019066.5(MAGEL2):c.3449_3450del (p.Phe1150fs) rs998860333
NM_019066.5(MAGEL2):c.3583del (p.Met1195fs) rs2140711872
NM_019066.5(MAGEL2):c.3628C>T (p.Gln1210Ter)
NM_019066.5(MAGEL2):c.648del (p.Thr217fs) rs2140718089
NM_020297.4(ABCC9):c.1375G>A (p.Gly459Ser) rs1060503051
NM_020297.4(ABCC9):c.1703C>T (p.Pro568Leu) rs1592166720
NM_020297.4(ABCC9):c.3190G>C (p.Ala1064Pro) rs1944560174
NM_020297.4(ABCC9):c.3203T>C (p.Leu1068Pro) rs2137388078
NM_020297.4(ABCC9):c.3460C>T (p.Arg1154Trp) rs387907208
NM_020297.4(ABCC9):c.3650G>A (p.Arg1217Lys) rs12298510
NM_020297.4(ABCC9):c.4039C>T (p.Arg1347Cys) rs2137165886
NM_020297.4(ABCC9):c.4375C>T (p.Leu1459Phe)
NM_020297.4(ABCC9):c.878T>C (p.Phe293Ser) rs1057516044
NM_020297.4(ABCC9):c.881G>A (p.Gly294Glu) rs1555115054
NM_021224.6(ZNF462):c.1351C>T (p.Arg451Ter) rs2131454461
NM_021224.6(ZNF462):c.1615C>T (p.Gln539Ter)
NM_021224.6(ZNF462):c.2748_2749insT (p.Asn917Ter)
NM_021224.6(ZNF462):c.3287_3306del (p.Met1096fs)
NM_021224.6(ZNF462):c.3305dup (p.Gln1103fs)
NM_021224.6(ZNF462):c.4178_4179dup (p.Trp1394fs)
NM_021224.6(ZNF462):c.4180del (p.Trp1394fs)
NM_021224.6(ZNF462):c.4828C>T (p.Gln1610Ter)
NM_021224.6(ZNF462):c.5112C>A (p.Tyr1704Ter)
NM_021224.6(ZNF462):c.5240C>T (p.Ser1747Phe)
NM_021224.6(ZNF462):c.6431C>A (p.Ser2144Ter) rs2132039347
NM_021224.6(ZNF462):c.6631del (p.Arg2211fs) rs1826656424
NM_021224.6(ZNF462):c.6671_6672insG (p.Asp2224fs) rs1588136019
NM_021224.6(ZNF462):c.6829C>T (p.Arg2277Ter)
NM_021224.6(ZNF462):c.7058_7077del (p.Val2353fs)
NM_021224.6(ZNF462):c.7365_7366del (p.Glu2455fs)
NM_021224.6(ZNF462):c.945_946del (p.Thr316fs)
NM_022455.4:c.5623-?_c.8091+?del
NM_022455.4:c.928-10312_3797-10414del
NM_022455.5(NSD1):c.1207A>T (p.Lys403Ter)
NM_022455.5(NSD1):c.1583del (p.Lys528fs)
NM_022455.5(NSD1):c.1726_1727del (p.Asn576fs)
NM_022455.5(NSD1):c.1768_1769del (p.Leu590fs) rs2149843640
NM_022455.5(NSD1):c.1893del (p.Lys631fs)
NM_022455.5(NSD1):c.197dup (p.Ser67fs) rs1756220614
NM_022455.5(NSD1):c.2350C>T (p.Gln784Ter) rs374740802
NM_022455.5(NSD1):c.2431_2432insCACTC (p.Ser811fs)
NM_022455.5(NSD1):c.2466_2467del (p.Pro823fs)
NM_022455.5(NSD1):c.2889_2890del (p.His963fs)
NM_022455.5(NSD1):c.3004_3007del (p.Lys1002fs) rs2149846876
NM_022455.5(NSD1):c.3036_3054dup (p.Arg1019delinsPheArgLeuCysTyrTer) rs1554189972
NM_022455.5(NSD1):c.3418_3419del (p.Val1140fs) rs1763367673
NM_022455.5(NSD1):c.3686C>G (p.Ser1229Ter) rs1763389239
NM_022455.5(NSD1):c.3774delinsCAGCTCACC (p.Gln1259fs)
NM_022455.5(NSD1):c.3922-9T>A
NM_022455.5(NSD1):c.3940G>T (p.Glu1314Ter)
NM_022455.5(NSD1):c.4014del (p.Glu1340fs)
NM_022455.5(NSD1):c.4139_4140dup (p.Val1381fs)
NM_022455.5(NSD1):c.4193-1G>A rs1581411423
NM_022455.5(NSD1):c.4378+1G>A rs587784115
NM_022455.5(NSD1):c.4378+3_4378+6del rs1562251194
NM_022455.5(NSD1):c.4538_4539insTCCT (p.Glu1513fs) rs1581433729
NM_022455.5(NSD1):c.4591dup (p.Met1531fs)
NM_022455.5(NSD1):c.4642-2A>G
NM_022455.5(NSD1):c.4776del (p.Cys1593fs)
NM_022455.5(NSD1):c.4817G>A (p.Cys1606Tyr) rs587784127
NM_022455.5(NSD1):c.4823dup (p.Pro1609fs)
NM_022455.5(NSD1):c.4831T>C (p.Cys1611Arg) rs2149912373
NM_022455.5(NSD1):c.4844A>C (p.Tyr1615Ser) rs398124378
NM_022455.5(NSD1):c.4913A>G (p.His1638Arg)
NM_022455.5(NSD1):c.4972_4974del (p.Leu1658del)
NM_022455.5(NSD1):c.4987C>T (p.Arg1663Cys) rs587784134
NM_022455.5(NSD1):c.5021G>A (p.Cys1674Tyr) rs587784135
NM_022455.5(NSD1):c.5066G>C (p.Cys1689Ser) rs1756866850
NM_022455.5(NSD1):c.5069C>G (p.Pro1690Arg) rs1554200207
NM_022455.5(NSD1):c.5149G>A (p.Gly1717Ser)
NM_022455.5(NSD1):c.5198G>A (p.Cys1733Tyr) rs587784140
NM_022455.5(NSD1):c.5268C>A (p.Tyr1756Ter)
NM_022455.5(NSD1):c.5293G>T (p.Gly1765Ter)
NM_022455.5(NSD1):c.5304-1G>C rs863224905
NM_022455.5(NSD1):c.5356_5360del (p.Lys1786fs)
NM_022455.5(NSD1):c.5374G>A (p.Gly1792Arg)
NM_022455.5(NSD1):c.5390T>C (p.Leu1797Pro) rs587784144
NM_022455.5(NSD1):c.5401dup (p.Ser1801fs)
NM_022455.5(NSD1):c.5419A>C (p.Thr1807Pro) rs587784146
NM_022455.5(NSD1):c.5456A>G (p.Asp1819Gly)
NM_022455.5(NSD1):c.5471A>G (p.Asp1824Gly) rs587784150
NM_022455.5(NSD1):c.5474dup (p.Met1826fs) rs1757806263
NM_022455.5(NSD1):c.5510C>A (p.Ala1837Asp)
NM_022455.5(NSD1):c.5616T>A (p.His1872Gln)
NM_022455.5(NSD1):c.5710C>T (p.Pro1904Ser)
NM_022455.5(NSD1):c.5711C>T (p.Pro1904Leu)
NM_022455.5(NSD1):c.5713T>G (p.Cys1905Gly)
NM_022455.5(NSD1):c.5726_5727del (p.Asp1908_Ser1909insTer) rs2127257129
NM_022455.5(NSD1):c.5732_5733delinsAA (p.Cys1911Ter)
NM_022455.5(NSD1):c.5741G>A (p.Arg1914His) rs587784155
NM_022455.5(NSD1):c.5741G>C (p.Arg1914Pro) rs587784155
NM_022455.5(NSD1):c.5758T>A (p.Cys1920Ser) rs1554204122
NM_022455.5(NSD1):c.5758T>C (p.Cys1920Arg) rs1554204122
NM_022455.5(NSD1):c.5798A>G (p.Asn1933Ser) rs587784156
NM_022455.5(NSD1):c.5854C>T (p.Arg1952Trp) rs886041219
NM_022455.5(NSD1):c.5858G>T (p.Gly1953Val)
NM_022455.5(NSD1):c.5907_5908insA (p.Glu1970fs)
NM_022455.5(NSD1):c.5918G>A (p.Gly1973Asp)
NM_022455.5(NSD1):c.5918G>T (p.Gly1973Val) rs587784166
NM_022455.5(NSD1):c.5927T>A (p.Ile1976Lys) rs587784167
NM_022455.5(NSD1):c.5927T>C (p.Ile1976Thr) rs587784167
NM_022455.5(NSD1):c.5972_5973dup (p.Asp1992fs)
NM_022455.5(NSD1):c.5990A>G (p.Tyr1997Cys) rs797045825
NM_022455.5(NSD1):c.6013C>G (p.Arg2005Gly) rs587784173
NM_022455.5(NSD1):c.6013C>T (p.Arg2005Ter) rs587784173
NM_022455.5(NSD1):c.6014G>A (p.Arg2005Gln) rs587784174
NM_022455.5(NSD1):c.6019A>T (p.Ile2007Phe) rs1057516048
NM_022455.5(NSD1):c.6020T>C (p.Ile2007Thr) rs1554204921
NM_022455.5(NSD1):c.6029G>T (p.Gly2010Val)
NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln) rs587784177
NM_022455.5(NSD1):c.6058A>C (p.Asn2020His)
NM_022455.5(NSD1):c.6080G>C (p.Cys2027Ser) rs587784180
NM_022455.5(NSD1):c.6086C>T (p.Thr2029Ile) rs587784181
NM_022455.5(NSD1):c.6088_6089del (p.Gln2030fs) rs1581535570
NM_022455.5(NSD1):c.6179T>A (p.Leu2060Gln)
NM_022455.5(NSD1):c.6208T>C (p.Cys2070Arg) rs1759551453
NM_022455.5(NSD1):c.6256A>T (p.Lys2086Ter) rs1581548112
NM_022455.5(NSD1):c.6257dup (p.Asn2087fs)
NM_022455.5(NSD1):c.6328C>T (p.Gln2110Ter) rs1554206783
NM_022455.5(NSD1):c.6356A>G (p.Asp2119Gly) rs587784191
NM_022455.5(NSD1):c.6362G>T (p.Cys2121Phe)
NM_022455.5(NSD1):c.6366T>G (p.Phe2122Leu) rs1562305653
NM_022455.5(NSD1):c.6413G>A (p.Cys2138Tyr) rs587784195
NM_022455.5(NSD1):c.6418A>G (p.Lys2140Glu) rs587784196
NM_022455.5(NSD1):c.6437dup (p.Cys2146fs) rs1554206836
NM_022455.5(NSD1):c.6455G>A (p.Arg2152Gln) rs587784200
NM_022455.5(NSD1):c.6485A>C (p.His2162Pro) rs587784204
NM_022455.5(NSD1):c.6486T>G (p.His2162Gln) rs2127279165
NM_022455.5(NSD1):c.6500G>A (p.Cys2167Tyr) rs587784205
NM_022455.5(NSD1):c.6521_6523del (p.Phe2174del) rs587784206
NM_022455.5(NSD1):c.6542_6544dup (p.Ser2181_Phe2182insSer) rs797045833
NM_022455.5(NSD1):c.6547T>G (p.Cys2183Gly) rs1554207287
NM_022455.5(NSD1):c.6557A>G (p.His2186Arg) rs587784208
NM_022455.5(NSD1):c.6613C>T (p.His2205Tyr) rs1554207316
NM_022455.5(NSD1):c.6630_6644del (p.Asn2211_Pro2215del) rs587784211
NM_022455.5(NSD1):c.6647G>A (p.Gly2216Glu) rs1760068807
NM_022455.5(NSD1):c.70G>T (p.Ala24Ser)
NM_022455.5(NSD1):c.7126del (p.Glu2376fs)
NM_022455.5(NSD1):c.7227dup (p.Pro2410fs) rs2127282070
NM_022455.5(NSD1):c.7241dup (p.Leu2414fs)
NM_022455.5(NSD1):c.7540C>T (p.Gln2514Ter)
NM_022455.5(NSD1):c.7551del (p.Ala2519fs)
NM_022455.5(NSD1):c.7959del (p.Ser2654fs)
NM_030662.4(MAP2K2):c.400T>C (p.Tyr134His) rs121434499
NM_030662.4(MAP2K2):c.401A>G (p.Tyr134Cys) rs727504370
NM_030662.4(MAP2K2):c.619G>A (p.Glu207Lys) rs727504382
NM_030928.4(CDT1):c.652A>T (p.Lys218Ter)
NM_030928.4(CDT1):c.802C>T (p.Gln268Ter) rs776483689
NM_033360.4(KRAS):c.189G>C (p.Glu63Asp) rs1592808357
NM_033360.4(KRAS):c.194G>T (p.Ser65Ile) rs1555194026
NM_033360.4(KRAS):c.355G>A (p.Asp119Asn) rs730880471
NM_033360.4(KRAS):c.458A>C (p.Glu153Ala) rs1592798693
NM_078480.3(PUF60):c.389G>A (p.Arg130His) rs1554643584
NM_080646.2(TBX1):c.1072_1073del (p.Glu358fs)
NM_080647.1(TBX1):c.34+2T>A
NM_080647.1(TBX1):c.855G>C (p.Lys285Asn) rs2145836461
NM_144643.4(SCLT1):c.2060dup (p.Asn687fs)
NM_181523.3(PIK3R1):c.1106C>T (p.Thr369Ile) rs587784325
NM_181523.3(PIK3R1):c.1300-2A>G rs1403833564
NM_181523.3(PIK3R1):c.1300-5_1320del rs2112261986
NM_181523.3(PIK3R1):c.1381C>T (p.Arg461Ter) rs1057519838
NM_181523.3(PIK3R1):c.1425+1G>A rs587777709
NM_181523.3(PIK3R1):c.1460T>C (p.Phe487Ser) rs797045063
NM_181523.3(PIK3R1):c.1609_1623del (p.Glu537_Ser541del) rs1747639986
NM_181523.3(PIK3R1):c.1708dup (p.Leu570fs)
NM_181523.3(PIK3R1):c.1946G>A (p.Arg649Gln)
NM_181523.3(PIK3R1):c.502+1G>C rs773461483
NM_181523.3(PIK3R1):c.502+1G>T rs773461483
NM_181523.3(PIK3R1):c.836+2T>C
NM_181523.3(PIK3R1):c.916+2T>C
NM_181741.4(ORC4):c.956A>G (p.His319Arg) rs2105259429
NM_181784.3(SPRED2):c.89G>A (p.Trp30Ter)
t(6;17)(p21.1;q24.3)

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