NM_178138.6(LHX3):c.252-4G>T
|
rs372058376
|
0.00165
|
NM_000823.4(GHRHR):c.975-6C>A
|
rs117572522
|
0.00088
|
NM_002303.6(LEPR):c.2260G>A (p.Val754Met)
|
rs150936702
|
0.00071
|
NM_000823.4(GHRHR):c.489C>T (p.Tyr163=)
|
rs147098353
|
0.00044
|
NM_000823.4(GHRHR):c.53C>T (p.Pro18Leu)
|
rs202243828
|
0.00023
|
NM_000406.3(GNRHR):c.719G>A (p.Arg240Gln)
|
rs182531866
|
0.00012
|
NM_006261.5(PROP1):c.349T>A (p.Phe117Ile)
|
rs121917840
|
0.00010
|
NM_000515.5(GH1):c.246G>C (p.Glu82Asp)
|
rs61762497
|
0.00009
|
NM_006261.5(PROP1):c.150del (p.Arg53fs)
|
rs587776683
|
0.00006
|
NM_006261.5(PROP1):c.358C>T (p.Arg120Cys)
|
rs121917839
|
0.00005
|
NM_006261.5(PROP1):c.359G>A (p.Arg120His)
|
rs769171020
|
0.00004
|
NM_012431.3(SEMA3E):c.1637G>A (p.Arg546Gln)
|
rs769248913
|
0.00004
|
NM_004667.6(HERC2):c.7069+3G>A
|
rs778173804
|
0.00003
|
NM_006261.5(PROP1):c.217C>T (p.Arg73Cys)
|
rs121917843
|
0.00003
|
NM_006261.5(PROP1):c.295C>T (p.Arg99Ter)
|
rs121917844
|
0.00003
|
NM_001166114.2(PNPLA6):c.3746G>A (p.Arg1249His)
|
rs760038069
|
0.00002
|
NM_006261.5(PROP1):c.296G>A (p.Arg99Gln)
|
rs137853100
|
0.00002
|
NM_006261.5(PROP1):c.373C>T (p.Arg125Trp)
|
rs146918863
|
0.00002
|
NM_012414.4(RAB3GAP2):c.2215A>G (p.Ser739Gly)
|
rs572722938
|
0.00002
|
NM_012431.3(SEMA3E):c.1172A>T (p.Tyr391Phe)
|
rs753965043
|
0.00002
|
NM_019066.5(MAGEL2):c.1640C>T (p.Pro547Leu)
|
rs1267794670
|
0.00002
|
NM_003865.3(HESX1):c.124C>T (p.His42Tyr)
|
rs761470587
|
0.00001
|
NM_005149.3(TBX19):c.627C>G (p.Tyr209Ter)
|
rs140528998
|
0.00001
|
NM_006261.5(PROP1):c.218G>A (p.Arg73His)
|
rs121917842
|
0.00001
|
NM_006261.5(PROP1):c.334C>T (p.Arg112Ter)
|
rs766673446
|
0.00001
|
NM_006261.5(PROP1):c.63del (p.Leu22fs)
|
rs780134343
|
0.00001
|
NM_012414.4(RAB3GAP2):c.1276C>T (p.Arg426Cys)
|
rs587777167
|
0.00001
|
NM_012431.3(SEMA3E):c.1075C>G (p.His359Asp)
|
rs1378507372
|
0.00001
|
NM_018077.3(RBM28):c.1745G>A (p.Arg582Gln)
|
rs201234922
|
0.00001
|
NM_019066.5(MAGEL2):c.1145_1147dup (p.Trp382_Gln383insArg)
|
rs1397065690
|
0.00001
|
GRCh37/hg19 15q11.2-13.1(chr15:22770994-29050198)
|
|
|
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28561671)
|
|
|
GRCh37/hg19 15q11.2-13.1(chr15:23683783-28530182)
|
|
|
GRCh37/hg19 15q11.2-13.1(chr15:23810184-28525505)
|
|
|
GRCh37/hg19 15q11.2-13.3(chr15:20848750-32925141)
|
|
|
NM_000061.3(BTK):c.134_139del (p.Glu45_Arg46del)
|
rs1927166327
|
|
NM_000439.5(PCSK1):c.1692A>G (p.Ile564Met)
|
rs1580744780
|
|
NM_000515.5(GH1):c.188_195delinsTGAAGGAG (p.Pro63Leu)
|
rs1907477324
|
|
NM_000515.5(GH1):c.302T>C (p.Leu101Pro)
|
rs1907452711
|
|
NM_000515.5(GH1):c.588G>A (p.Met196Ile)
|
rs1907385621
|
|
NM_001166114.2(PNPLA6):c.1769A>C (p.Gln590Pro)
|
rs2023576110
|
|
NM_001378457.1(DMXL2):c.5020A>C (p.Lys1674Gln)
|
rs1438220307
|
|
NM_001378457.1(DMXL2):c.8794C>A (p.Pro2932Thr)
|
rs2039022160
|
|
NM_006261.5(PROP1):c.109+1G>A
|
|
|
NM_006261.5(PROP1):c.109+1G>T
|
rs1214465435
|
|
NM_006261.5(PROP1):c.112_124del (p.Ser38fs)
|
rs587776682
|
|
NM_006261.5(PROP1):c.129dup (p.Arg44fs)
|
rs2113064591
|
|
NM_006261.5(PROP1):c.156dup (p.Arg53fs)
|
rs1554182514
|
|
NM_006261.5(PROP1):c.211C>T (p.Arg71Cys)
|
|
|
NM_006261.5(PROP1):c.301_302del (p.Leu102fs)
|
rs193922688
|
|
NM_006261.5(PROP1):c.310del (p.Arg104fs)
|
rs786204663
|
|
NM_006261.5(PROP1):c.386_387dup (p.Ser130fs)
|
rs1554182405
|
|
NM_006261.5(PROP1):c.568C>T (p.Gln190Ter)
|
|
|
NM_006261.5(PROP1):c.582G>A (p.Trp194Ter)
|
rs121917845
|
|
NM_006261.5(PROP1):c.611del (p.Gly204fs)
|
rs1554182368
|
|
NM_006261.5(PROP1):c.629del (p.Pro210fs)
|
rs761018422
|
|
NM_006261.5(PROP1):c.629dup (p.Pro211fs)
|
rs761018422
|
|
NM_012414.4(RAB3GAP2):c.2366_2370delinsGACTGTGG (p.Gln789_Ser790delinsArgLeuTrp)
|
rs1658202227
|
|
NM_012431.3(SEMA3E):c.1905G>A (p.Met635Ile)
|
rs1794698535
|
|
NM_015295.3(SMCHD1):c.1504C>G (p.Pro502Ala)
|
rs1355109257
|
|
NM_017619.4(RNPC3):c.859G>A (p.Asp287Asn)
|
|
|
NM_017780.4(CHD7):c.1412T>C (p.Leu471Ser)
|
|
|
NM_017780.4(CHD7):c.1554G>T (p.Gln518His)
|
rs369284507
|
|
NM_017780.4(CHD7):c.1848del (p.Asp618fs)
|
rs1811207509
|
|
NM_017780.4(CHD7):c.2096G>A (p.Ser699Asn)
|
rs1563595388
|
|
NM_017780.4(CHD7):c.2238G>C (p.Gln746His)
|
|
|
NM_017780.4(CHD7):c.2239-16T>A
|
|
|
NM_017780.4(CHD7):c.247A>G (p.Met83Val)
|
rs1809024182
|
|
NM_017780.4(CHD7):c.2504_2508del (p.Tyr835fs)
|
rs886040982
|
|
NM_017780.4(CHD7):c.282del (p.Asn96fs)
|
rs1563559321
|
|
NM_017780.4(CHD7):c.3364_3365del (p.Lys1122fs)
|
|
|
NM_017780.4(CHD7):c.469C>T (p.Arg157Ter)
|
rs794727293
|
|
NM_017780.4(CHD7):c.4928G>A (p.Cys1643Tyr)
|
|
|
NM_017780.4(CHD7):c.4940_4944delinsA (p.Leu1647fs)
|
|
|
NM_017780.4(CHD7):c.511C>T (p.Gln171Ter)
|
rs1563560018
|
|
NM_017780.4(CHD7):c.5300+1G>A
|
|
|
NM_017780.4(CHD7):c.5405-17G>A
|
rs794727423
|
|
NM_017780.4(CHD7):c.5607+1G>A
|
rs1554603672
|
|
NM_017780.4(CHD7):c.5948T>C (p.Val1983Ala)
|
rs1805501302
|
|
NM_017780.4(CHD7):c.6186dup (p.Lys2063fs)
|
|
|
NM_017780.4(CHD7):c.6193C>T (p.Arg2065Cys)
|
rs1064794250
|
|
NM_017780.4(CHD7):c.6936+2T>C
|
|
|
NM_017780.4(CHD7):c.6955C>T (p.Arg2319Cys)
|
rs121434341
|
|
NM_017780.4(CHD7):c.6962A>T (p.Asp2321Val)
|
|
|
NM_017780.4(CHD7):c.7256A>G (p.Asn2419Ser)
|
rs1805721790
|
|
NM_017780.4(CHD7):c.7879C>T (p.Arg2627Ter)
|
rs1064793346
|
|
NM_017780.4(CHD7):c.8063T>G (p.Ile2688Arg)
|
rs755066542
|
|
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.1802del (p.Pro601fs)
|
rs398122416
|
|
NM_019066.5(MAGEL2):c.1972G>A (p.Ala658Thr)
|
rs1890385864
|
|
NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs)
|
rs770374710
|
|
NM_019066.5(MAGEL2):c.2147C>T (p.Thr716Ile)
|
|
|
NM_019066.5(MAGEL2):c.2839G>C (p.Glu947Gln)
|
rs1890360315
|
|
NM_019066.5(MAGEL2):c.3124C>T (p.Gln1042Ter)
|
rs398122418
|
|
NM_019066.5(MAGEL2):c.3181_3182del (p.Ile1061fs)
|
rs398122417
|
|
NM_019066.5(MAGEL2):c.877G>A (p.Gly293Ser)
|
rs983547801
|
|
NM_021728.4(OTX2):c.730G>A (p.Ala244Thr)
|
rs1594952158
|
|
NM_025000.4(DCAF17):c.231-8T>A
|
|
|
NM_025000.4(DCAF17):c.436del (p.Ala147fs)
|
rs797045038
|
|
NM_025000.4(DCAF17):c.52C>A (p.Leu18Met)
|
rs1693684988
|
|
NM_173648.4(CCDC141):c.187C>T (p.Leu63Phe)
|
rs2043530237
|
|