NM_014679.5(CEP57):c.677G>A (p.Arg226His)
|
rs143711180
|
0.00168
|
NM_000057.4(BLM):c.11T>C (p.Val4Ala)
|
rs144706057
|
0.00102
|
NM_001211.6(BUB1B):c.3094A>C (p.Asn1032His)
|
rs34700927
|
0.00077
|
NM_030665.4(RAI1):c.3208G>A (p.Gly1070Arg)
|
rs370633684
|
0.00026
|
NM_014679.5(CEP57):c.95C>T (p.Ser32Phe)
|
rs139110744
|
0.00021
|
NM_000057.4(BLM):c.3751+10C>T
|
rs199685140
|
0.00016
|
NM_001211.6(BUB1B):c.1943C>T (p.Thr648Ile)
|
rs148348158
|
0.00016
|
NM_014679.5(CEP57):c.764A>G (p.Asn255Ser)
|
rs768269976
|
0.00012
|
NM_016111.4(TELO2):c.1129C>T (p.Arg377Trp)
|
rs200293618
|
0.00012
|
NM_000057.4(BLM):c.1097T>C (p.Ile366Thr)
|
rs571152089
|
0.00011
|
NM_000057.4(BLM):c.1315A>G (p.Met439Val)
|
rs201231857
|
0.00011
|
NM_030665.4(RAI1):c.3883C>T (p.Pro1295Ser)
|
rs372337877
|
0.00009
|
NM_000057.4(BLM):c.1237G>A (p.Glu413Lys)
|
rs887921909
|
0.00006
|
NM_000057.4(BLM):c.3556A>G (p.Lys1186Glu)
|
rs750532596
|
0.00004
|
NM_001378120.1(MBD5):c.4088T>C (p.Ile1363Thr)
|
rs748142226
|
0.00004
|
NM_014679.5(CEP57):c.100T>C (p.Ser34Pro)
|
rs760029883
|
0.00004
|
NM_030665.4(RAI1):c.4849C>T (p.Pro1617Ser)
|
rs767535015
|
0.00004
|
NM_000057.4(BLM):c.2840T>C (p.Ile947Thr)
|
rs1024172175
|
0.00003
|
NM_004667.6(HERC2):c.7069+3G>A
|
rs778173804
|
0.00003
|
NM_000057.4(BLM):c.3949G>A (p.Glu1317Lys)
|
rs730880251
|
0.00002
|
NM_001378120.1(MBD5):c.718A>G (p.Arg240Gly)
|
rs767317924
|
0.00002
|
NM_004237.4(TRIP13):c.712G>A (p.Asp238Asn)
|
rs769856470
|
0.00002
|
NM_005573.4(LMNB1):c.360-8T>C
|
rs376081850
|
0.00002
|
NM_014679.5(CEP57):c.444A>C (p.Glu148Asp)
|
rs763144202
|
0.00002
|
NM_016628.5(WAC):c.367A>C (p.Lys123Gln)
|
rs949649739
|
0.00002
|
NM_019066.5(MAGEL2):c.1640C>T (p.Pro547Leu)
|
rs1267794670
|
0.00002
|
NM_000057.4(BLM):c.1436T>G (p.Phe479Cys)
|
rs1418071613
|
0.00001
|
NM_000057.4(BLM):c.1490A>G (p.Gln497Arg)
|
rs368547042
|
0.00001
|
NM_000057.4(BLM):c.3210+4A>G
|
rs776621429
|
0.00001
|
NM_000057.4(BLM):c.3637G>A (p.Glu1213Lys)
|
rs28385142
|
0.00001
|
NM_000057.4(BLM):c.4140T>G (p.Ser1380Arg)
|
rs747834576
|
0.00001
|
NM_001002295.2(GATA3):c.71C>T (p.Pro24Leu)
|
rs1485724723
|
0.00001
|
NM_001211.6(BUB1B):c.1826G>T (p.Cys609Phe)
|
rs1260445282
|
0.00001
|
NM_001211.6(BUB1B):c.655T>C (p.Ser219Pro)
|
rs893191577
|
0.00001
|
NM_001378120.1(MBD5):c.2688C>T (p.His896=)
|
rs1681222021
|
0.00001
|
NM_006940.6(SOX5):c.1226C>A (p.Pro409His)
|
rs1565958110
|
0.00001
|
NM_014679.5(CEP57):c.154C>T (p.Arg52Cys)
|
rs749519225
|
0.00001
|
NM_014679.5(CEP57):c.233A>G (p.Asp78Gly)
|
rs750728317
|
0.00001
|
NM_016111.4(TELO2):c.2003G>A (p.Arg668Gln)
|
rs150934316
|
0.00001
|
NM_019066.5(MAGEL2):c.1145_1147dup (p.Trp382_Gln383insArg)
|
rs1397065690
|
0.00001
|
NM_022455.5(NSD1):c.3404C>T (p.Pro1135Leu)
|
rs1021852466
|
0.00001
|
NM_032322.4(RNF135):c.575C>T (p.Thr192Ile)
|
rs1907708509
|
0.00001
|
NM_078480.3(PUF60):c.1489A>G (p.Ile497Val)
|
rs756399764
|
0.00001
|
NM_000057.4(BLM):c.2318G>A (p.Ser773Asn)
|
rs1896222659
|
|
NM_000057.4(BLM):c.2329A>G (p.Ile777Val)
|
rs764097842
|
|
NM_000057.4(BLM):c.2537A>C (p.Lys846Thr)
|
rs2151166394
|
|
NM_000057.4(BLM):c.3775G>A (p.Val1259Ile)
|
rs1897348236
|
|
NM_000501.4(ELN):c.1178_1201del (p.Gly393_Gly400del)
|
rs781838239
|
|
NM_001145358.2(SIN3A):c.776A>C (p.His259Pro)
|
rs1180165033
|
|
NM_001145512.2(NFIA):c.104+5G>C
|
rs992223479
|
|
NM_001172509.2(SATB2):c.701-12A>T
|
rs116585116
|
|
NM_001211.6(BUB1B):c.857A>G (p.Glu286Gly)
|
rs2037345499
|
|
NM_001256447.2(BCAP31):c.492C>G (p.Asp164Glu)
|
rs782648908
|
|
NM_001372044.2(SHANK3):c.319G>T (p.Val107Leu)
|
rs2082908926
|
|
NM_001372044.2(SHANK3):c.415G>A (p.Ala139Thr)
|
rs2082909895
|
|
NM_001372044.2(SHANK3):c.781G>A (p.Ala261Thr)
|
|
|
NM_001378120.1(MBD5):c.2393A>G (p.Gln798Arg)
|
rs1680753685
|
|
NM_001378120.1(MBD5):c.2645A>T (p.Gln882Leu)
|
rs151173122
|
|
NM_001378120.1(MBD5):c.4548T>C (p.Thr1516=)
|
rs1681478115
|
|
NM_001378120.1(MBD5):c.4837C>A (p.Pro1613Thr)
|
rs773779478
|
|
NM_001378120.1(MBD5):c.5085G>A (p.Met1695Ile)
|
rs1682172933
|
|
NM_001378120.1(MBD5):c.5153C>T (p.Pro1718Leu)
|
rs1682261070
|
|
NM_001379200.1(TBX1):c.736T>C (p.Tyr246His)
|
|
|
NM_002397.5(MEF2C):c.1319G>A (p.Arg440Gln)
|
rs1360994640
|
|
NM_005573.4(LMNB1):c.227C>T (p.Thr76Ile)
|
|
|
NM_006940.6(SOX5):c.1075G>A (p.Gly359Ser)
|
rs754590341
|
|
NM_006940.6(SOX5):c.1280G>T (p.Gly427Val)
|
rs780885506
|
|
NM_006940.6(SOX5):c.211T>C (p.Ser71Pro)
|
rs2097171827
|
|
NM_006940.6(SOX5):c.251C>T (p.Thr84Ile)
|
rs772035716
|
|
NM_006940.6(SOX5):c.353G>T (p.Arg118Leu)
|
rs1217393451
|
|
NM_006940.6(SOX5):c.798G>T (p.Gln266His)
|
rs2093521806
|
|
NM_014679.5(CEP57):c.1357C>G (p.Arg453Gly)
|
rs1395763725
|
|
NM_014679.5(CEP57):c.896C>A (p.Pro299His)
|
rs776778777
|
|
NM_014679.5(CEP57):c.89G>C (p.Arg30Pro)
|
rs577173144
|
|
NM_016111.4(TELO2):c.1382C>T (p.Thr461Met)
|
rs199748546
|
|
NM_016111.4(TELO2):c.1476T>G (p.Asp492Glu)
|
rs2039707751
|
|
NM_016111.4(TELO2):c.2002C>T (p.Arg668Trp)
|
|
|
NM_016111.4(TELO2):c.2449G>A (p.Ala817Thr)
|
rs2040070431
|
|
NM_019066.5(MAGEL2):c.113G>A (p.Arg38Gln)
|
|
|
NM_019066.5(MAGEL2):c.1188G>A (p.Trp396Ter)
|
rs1890410630
|
|
NM_019066.5(MAGEL2):c.1276G>A (p.Gly426Ser)
|
rs1890407784
|
|
NM_019066.5(MAGEL2):c.1972G>A (p.Ala658Thr)
|
rs1890385864
|
|
NM_019066.5(MAGEL2):c.2147C>T (p.Thr716Ile)
|
|
|
NM_019066.5(MAGEL2):c.2839G>C (p.Glu947Gln)
|
rs1890360315
|
|
NM_019066.5(MAGEL2):c.877G>A (p.Gly293Ser)
|
rs983547801
|
|
NM_022455.5(NSD1):c.1382C>T (p.Thr461Ile)
|
rs776330654
|
|
NM_022455.5(NSD1):c.2051T>G (p.Ile684Arg)
|
rs1281302772
|
|
NM_022455.5(NSD1):c.3418G>A (p.Val1140Ile)
|
rs1763367854
|
|
NM_022455.5(NSD1):c.3965G>C (p.Arg1322Pro)
|
rs750684515
|
|
NM_022455.5(NSD1):c.56C>T (p.Pro19Leu)
|
rs1756207246
|
|
NM_022455.5(NSD1):c.6632A>G (p.Asn2211Ser)
|
rs2127279586
|
|
NM_022455.5(NSD1):c.7159C>G (p.Pro2387Ala)
|
rs1416255762
|
|
NM_022455.5(NSD1):c.7648G>A (p.Glu2550Lys)
|
rs1180593710
|
|
NM_022455.5(NSD1):c.7922C>T (p.Ala2641Val)
|
rs1371700950
|
|
NM_030665.4(RAI1):c.2918C>G (p.Ala973Gly)
|
rs2032220904
|
|
NM_030665.4(RAI1):c.424G>T (p.Asp142Tyr)
|
rs2032095988
|
|
NM_030665.4(RAI1):c.4967C>G (p.Ser1656Cys)
|
rs774532013
|
|
NM_078480.3(PUF60):c.1292C>T (p.Pro431Leu)
|
rs1816390931
|
|
NM_078480.3(PUF60):c.1376A>G (p.Gln459Arg)
|
|
|
NM_078480.3(PUF60):c.603G>A (p.Lys201=)
|
rs1816591218
|
|