NM_001001433.3(STX16):c.*1785A>G
|
rs6128397
|
0.60588
|
NM_000516.7(GNAS):c.393C>T (p.Ile131=)
|
rs7121
|
0.57241
|
NM_001001433.3(STX16):c.*2057G>A
|
rs7683
|
0.42733
|
NM_001001433.3(STX16):c.*1928C>T
|
rs11578
|
0.24059
|
NM_001001433.3(STX16):c.*183G>T
|
rs1052642
|
0.10193
|
NM_001001433.3(STX16):c.*2365A>T
|
rs189786439
|
0.05203
|
NM_001001433.3(STX16):c.-350C>A
|
rs41296205
|
0.04872
|
NM_001001433.2(STX16):c.-744T>C
|
rs6026428
|
0.03703
|
NM_001001433.3(STX16):c.443G>A (p.Arg148Gln)
|
rs41276950
|
0.03442
|
NM_001001433.3(STX16):c.*1581G>C
|
rs73302110
|
0.03418
|
NM_001001433.3(STX16):c.*2060T>C
|
rs115404291
|
0.02300
|
NM_001001433.3(STX16):c.*70G>A
|
rs114597931
|
0.02300
|
NM_001001433.3(STX16):c.*1997A>G
|
rs78816069
|
0.01884
|
NM_001001433.3(STX16):c.*2080G>A
|
rs111631847
|
0.01513
|
NM_001001433.3(STX16):c.*1899C>T
|
rs138678203
|
0.01465
|
NM_001001433.3(STX16):c.569G>A (p.Arg190Gln)
|
rs114786310
|
0.01336
|
NM_001001433.3(STX16):c.*2543G>C
|
rs75424783
|
0.00934
|
NM_001001433.3(STX16):c.*1863C>A
|
rs141875151
|
0.00929
|
NM_001001433.3(STX16):c.557-7G>C
|
rs41276952
|
0.00533
|
NM_001001433.3(STX16):c.-464G>A
|
rs41296203
|
0.00433
|
NM_001001433.3(STX16):c.*3194C>T
|
rs142088857
|
0.00377
|
NM_001001433.3(STX16):c.*2183G>A
|
rs147429412
|
0.00329
|
NM_001001433.3(STX16):c.*2199C>T
|
rs139818778
|
0.00317
|
NM_001001433.3(STX16):c.141C>T (p.Asp47=)
|
rs73598392
|
0.00268
|
NM_001001433.3(STX16):c.-355C>T
|
rs141733765
|
0.00235
|
NM_001001433.3(STX16):c.*1797C>G
|
rs148109645
|
0.00192
|
NM_001001433.3(STX16):c.*2293G>A
|
rs185815575
|
0.00172
|
NM_001001433.3(STX16):c.*2885C>T
|
rs188362833
|
0.00170
|
NM_001001433.3(STX16):c.132+15G>A
|
rs139859128
|
0.00147
|
NM_001001433.3(STX16):c.-534C>G
|
rs190719996
|
0.00124
|
NM_001001433.3(STX16):c.*1790A>T
|
rs145827696
|
0.00102
|
NM_001001433.3(STX16):c.-63T>C
|
rs181473720
|
0.00098
|
NM_001001433.3(STX16):c.456G>T (p.Glu152Asp)
|
rs138647604
|
0.00098
|
NM_001001433.3(STX16):c.*1886T>C
|
rs150647186
|
0.00070
|
NM_001001433.3(STX16):c.*114C>T
|
rs191638951
|
0.00054
|
NM_001001433.3(STX16):c.*1488A>C
|
rs565168524
|
0.00050
|
NM_001001433.3(STX16):c.585G>A (p.Gln195=)
|
rs147137636
|
0.00045
|
NM_001001433.3(STX16):c.594C>T (p.Phe198=)
|
rs146333716
|
0.00037
|
NM_001001433.3(STX16):c.-550G>A
|
rs148071494
|
0.00032
|
NM_001001433.3(STX16):c.442C>T (p.Arg148Trp)
|
rs141068956
|
0.00029
|
NM_001001433.3(STX16):c.*3110G>T
|
rs148669648
|
0.00028
|
NM_001001433.3(STX16):c.*1049G>A
|
rs559176715
|
0.00027
|
NM_001001433.3(STX16):c.*2137C>T
|
rs886056861
|
0.00022
|
NM_001001433.3(STX16):c.*1186C>T
|
rs933579094
|
0.00021
|
NM_001001433.3(STX16):c.360T>C (p.His120=)
|
rs148962992
|
0.00018
|
NM_001001433.3(STX16):c.644A>T (p.His215Leu)
|
rs185111037
|
0.00017
|
NM_001001433.3(STX16):c.*1652G>A
|
rs186800651
|
0.00016
|
NM_001001433.3(STX16):c.*56T>C
|
rs886056849
|
0.00016
|
NM_001001433.3(STX16):c.*1223A>G
|
rs879449362
|
0.00015
|
NM_001001433.3(STX16):c.394-7C>T
|
rs533111939
|
0.00015
|
NM_001001433.3(STX16):c.706C>T (p.Arg236Trp)
|
rs188308261
|
0.00014
|
NM_001001433.3(STX16):c.751A>C (p.Asn251His)
|
rs754524705
|
0.00013
|
NM_001001433.3(STX16):c.*2475T>C
|
rs886056864
|
0.00011
|
NM_001001433.3(STX16):c.*2152G>A
|
rs1027698811
|
0.00010
|
NM_001001433.3(STX16):c.*2095C>T
|
rs577869699
|
0.00009
|
NM_001001433.3(STX16):c.*648A>C
|
rs980469101
|
0.00009
|
NM_001001433.3(STX16):c.*952C>A
|
rs886056854
|
0.00009
|
NM_001001433.3(STX16):c.-160G>A
|
rs368572667
|
0.00009
|
NM_001001433.3(STX16):c.716A>G (p.Glu239Gly)
|
rs202102691
|
0.00009
|
NM_001001433.3(STX16):c.*2016G>T
|
rs779563360
|
0.00008
|
NM_080425.4(GNAS):c.538C>T (p.Gln180Ter)
|
rs200910410
|
0.00008
|
NM_001001433.3(STX16):c.*173C>G
|
rs765639298
|
0.00006
|
NM_001001433.3(STX16):c.*2499C>T
|
rs886056866
|
0.00006
|
NM_001001433.3(STX16):c.*3093A>G
|
rs886056869
|
0.00006
|
NM_001001433.3(STX16):c.-25A>C
|
rs368579447
|
0.00006
|
NM_001001433.3(STX16):c.776C>T (p.Ala259Val)
|
rs371863588
|
0.00006
|
NM_001001433.3(STX16):c.*1160G>A
|
rs886056855
|
0.00005
|
NM_001001433.3(STX16):c.*17G>A
|
rs766728803
|
0.00005
|
NM_001001433.3(STX16):c.*2276G>C
|
rs886086537
|
0.00005
|
NM_001001433.3(STX16):c.-421C>G
|
rs557592494
|
0.00005
|
NM_001001433.3(STX16):c.648+4C>T
|
rs370006614
|
0.00005
|
NM_001001433.3(STX16):c.782T>C (p.Ile261Thr)
|
rs151312981
|
0.00005
|
NM_001001433.3(STX16):c.823G>A (p.Val275Ile)
|
rs749300349
|
0.00005
|
NM_001001433.3(STX16):c.*1378A>T
|
rs750137163
|
0.00004
|
NM_001001433.3(STX16):c.*2138G>A
|
rs535827417
|
0.00004
|
NM_001001433.3(STX16):c.*441C>G
|
rs886056852
|
0.00004
|
NM_001001433.3(STX16):c.-409G>A
|
rs886056844
|
0.00004
|
NM_001001433.3(STX16):c.707G>A (p.Arg236Gln)
|
rs115536505
|
0.00004
|
NM_001001433.3(STX16):c.*1746C>T
|
rs886056858
|
0.00003
|
NM_001001433.3(STX16):c.*1898A>G
|
rs886056860
|
0.00003
|
NM_001001433.3(STX16):c.*2574T>C
|
rs528651545
|
0.00003
|
NM_001001433.3(STX16):c.-693G>A
|
rs149351460
|
0.00003
|
NM_001001433.3(STX16):c.661G>A (p.Asp221Asn)
|
rs781763936
|
0.00003
|
NM_001001433.3(STX16):c.*1312A>T
|
rs757085474
|
0.00002
|
NM_001001433.3(STX16):c.*1896G>A
|
rs543577961
|
0.00002
|
NM_001001433.3(STX16):c.*2568C>T
|
rs536513007
|
0.00002
|
NM_001001433.3(STX16):c.-377G>A
|
rs886056845
|
0.00002
|
NM_001001433.3(STX16):c.-621G>A
|
rs567647430
|
0.00002
|
NM_080425.4(GNAS):c.1886A>C (p.Lys629Thr)
|
rs906678943
|
0.00002
|
NM_000516.7(GNAS):c.601C>T (p.Arg201Cys)
|
rs11554273
|
0.00001
|
NM_001001433.3(STX16):c.*1195A>G
|
rs1488875431
|
0.00001
|
NM_001001433.3(STX16):c.*1547C>G
|
rs532426531
|
0.00001
|
NM_001001433.3(STX16):c.*217G>A
|
rs145140409
|
0.00001
|
NM_001001433.3(STX16):c.*2558T>C
|
rs1276361785
|
0.00001
|
NM_001001433.3(STX16):c.*2896A>G
|
rs886056868
|
0.00001
|
NM_001001433.3(STX16):c.*539G>A
|
rs571571425
|
0.00001
|
NM_001001433.3(STX16):c.*558T>C
|
rs1192979707
|
0.00001
|
NM_001001433.3(STX16):c.-494G>A
|
rs1018502247
|
0.00001
|
NM_001001433.3(STX16):c.-707G>A
|
rs886056841
|
0.00001
|
NM_001001433.3(STX16):c.217C>T (p.Arg73Trp)
|
rs115046538
|
0.00001
|
NM_001001433.3(STX16):c.315G>A (p.Lys105=)
|
rs759176630
|
0.00001
|
NM_001001433.3(STX16):c.454G>A (p.Glu152Lys)
|
rs759831553
|
0.00001
|
NM_001001433.3(STX16):c.593T>C (p.Phe198Ser)
|
rs756954719
|
0.00001
|
NM_001001433.3(STX16):c.781A>C (p.Ile261Leu)
|
rs1031420787
|
0.00001
|
NM_001001433.3(STX16):c.904A>G (p.Met302Val)
|
rs886056846
|
0.00001
|
NM_001001433.3(STX16):c.912G>C (p.Val304=)
|
rs886056848
|
0.00001
|
NM_001001433.3(STX16):c.958G>A (p.Val320Ile)
|
rs775032938
|
0.00001
|
NM_016592.5(GNAS):c.362C>T (p.Ser121Phe)
|
rs770140447
|
0.00001
|
NM_080425.4(GNAS):c.1323C>T (p.Pro441=)
|
rs146744182
|
0.00001
|
GNAS, 4.7-KB DEL
|
|
|
GRCh37/hg19 20q13.32(chr20:57244540-57246216)
|
|
|
NG_016194.2:g.[6012_6117gom;19440_19569lom]
|
|
|
NM_000516.7(GNAS):c.1030_1032dup (p.Glu344dup)
|
rs1569031518
|
|
NM_000516.7(GNAS):c.1143CAT[1] (p.Ile383del)
|
rs1569032751
|
|
NM_000516.7(GNAS):c.139+1G>C
|
rs2089393181
|
|
NM_000516.7(GNAS):c.212+6T>G
|
rs2516903446
|
|
NM_000516.7(GNAS):c.217G>A (p.Gly73Ser)
|
rs587778380
|
|
NM_000516.7(GNAS):c.238G>A (p.Ala80Thr)
|
|
|
NM_000516.7(GNAS):c.257+970_257+972del
|
rs1174800950
|
|
NM_000516.7(GNAS):c.296del (p.Leu99fs)
|
rs2090829910
|
|
NM_000516.7(GNAS):c.565_568del (p.Asp189fs)
|
rs587776829
|
|
NM_000516.7(GNAS):c.682C>T (p.Arg228Cys)
|
rs2146278555
|
|
NM_000516.7(GNAS):c.85C>T (p.Gln29Ter)
|
rs1057518907
|
|
NM_001001433.3(STX16):c.*1156G>C
|
rs1032502684
|
|
NM_001001433.3(STX16):c.*1203T>C
|
rs886056856
|
|
NM_001001433.3(STX16):c.*1232A>G
|
rs886056857
|
|
NM_001001433.3(STX16):c.*1565C>G
|
rs2084170375
|
|
NM_001001433.3(STX16):c.*1676T>A
|
rs893623188
|
|
NM_001001433.3(STX16):c.*1747G>C
|
rs140662326
|
|
NM_001001433.3(STX16):c.*1764C>T
|
rs886056859
|
|
NM_001001433.3(STX16):c.*1957T>C
|
rs2084183470
|
|
NM_001001433.3(STX16):c.*2312G>A
|
rs886056862
|
|
NM_001001433.3(STX16):c.*2377G>T
|
rs559654103
|
|
NM_001001433.3(STX16):c.*2555C>G
|
rs2084203495
|
|
NM_001001433.3(STX16):c.*2594T>C
|
rs886056867
|
|
NM_001001433.3(STX16):c.*2627G>C
|
rs76626612
|
|
NM_001001433.3(STX16):c.*270T>C
|
rs886056850
|
|
NM_001001433.3(STX16):c.*2962C>T
|
rs192204838
|
|
NM_001001433.3(STX16):c.*3053C>T
|
rs769976417
|
|
NM_001001433.3(STX16):c.*3092A>C
|
rs2084217748
|
|
NM_001001433.3(STX16):c.*436G>C
|
rs886056851
|
|
NM_001001433.3(STX16):c.-465T>G
|
rs886056843
|
|
NM_001001433.3(STX16):c.-673C>G
|
rs886056842
|
|
NM_001001433.3(STX16):c.106C>A (p.Pro36Thr)
|
rs142560013
|
|
NM_001001433.3(STX16):c.132+6T>A
|
|
|
NM_001001433.3(STX16):c.132G>A (p.Ala44=)
|
|
|
NM_001001433.3(STX16):c.134A>C (p.Glu45Ala)
|
|
|
NM_001001433.3(STX16):c.145-2060_556+343del
|
|
|
NM_001001433.3(STX16):c.1A>G (p.Met1Val)
|
|
|
NM_001001433.3(STX16):c.217C>G (p.Arg73Gly)
|
|
|
NM_001001433.3(STX16):c.223C>T (p.Pro75Ser)
|
|
|
NM_001001433.3(STX16):c.224C>T (p.Pro75Leu)
|
|
|
NM_001001433.3(STX16):c.234G>C (p.Trp78Cys)
|
|
|
NM_001001433.3(STX16):c.260A>G (p.Tyr87Cys)
|
rs921011114
|
|
NM_001001433.3(STX16):c.271C>T (p.Arg91Trp)
|
|
|
NM_001001433.3(STX16):c.274A>G (p.Ile92Val)
|
|
|
NM_001001433.3(STX16):c.286A>G (p.Met96Val)
|
|
|
NM_001001433.3(STX16):c.31TTG[2] (p.Leu13del)
|
|
|
NM_001001433.3(STX16):c.349G>A (p.Glu117Lys)
|
|
|
NM_001001433.3(STX16):c.352G>A (p.Glu118Lys)
|
|
|
NM_001001433.3(STX16):c.386T>A (p.Ile129Asn)
|
|
|
NM_001001433.3(STX16):c.393+557_792+364del
|
|
|
NM_001001433.3(STX16):c.394-14G>T
|
|
|
NM_001001433.3(STX16):c.407G>T (p.Cys136Phe)
|
|
|
NM_001001433.3(STX16):c.412C>T (p.Arg138Cys)
|
|
|
NM_001001433.3(STX16):c.423G>C (p.Gln141His)
|
|
|
NM_001001433.3(STX16):c.434G>A (p.Ser145Asn)
|
|
|
NM_001001433.3(STX16):c.437G>A (p.Arg146Gln)
|
|
|
NM_001001433.3(STX16):c.442C>G (p.Arg148Gly)
|
|
|
NM_001001433.3(STX16):c.445G>T (p.Ala149Ser)
|
|
|
NM_001001433.3(STX16):c.454G>C (p.Glu152Gln)
|
|
|
NM_001001433.3(STX16):c.461A>C (p.Glu154Ala)
|
|
|
NM_001001433.3(STX16):c.484G>T (p.Val162Leu)
|
rs116490884
|
|
NM_001001433.3(STX16):c.491C>T (p.Ser164Leu)
|
|
|
NM_001001433.3(STX16):c.492G>T (p.Ser164=)
|
|
|
NM_001001433.3(STX16):c.501G>C (p.Gln167His)
|
|
|
NM_001001433.3(STX16):c.530G>A (p.Arg177Gln)
|
|
|
NM_001001433.3(STX16):c.540G>A (p.Gln180=)
|
rs2296524
|
|
NM_001001433.3(STX16):c.557G>T (p.Arg186Leu)
|
rs2516022199
|
|
NM_001001433.3(STX16):c.559A>G (p.Met187Val)
|
|
|
NM_001001433.3(STX16):c.571_592delinsAA (p.Glu191fs)
|
|
|
NM_001001433.3(STX16):c.575A>G (p.Glu192Gly)
|
|
|
NM_001001433.3(STX16):c.581C>G (p.Ser194Cys)
|
|
|
NM_001001433.3(STX16):c.588T>A (p.His196Gln)
|
|
|
NM_001001433.3(STX16):c.595G>A (p.Asp199Asn)
|
|
|
NM_001001433.3(STX16):c.596A>T (p.Asp199Val)
|
|
|
NM_001001433.3(STX16):c.608C>T (p.Pro203Leu)
|
|
|
NM_001001433.3(STX16):c.615G>T (p.Met205Ile)
|
|
|
NM_001001433.3(STX16):c.628G>A (p.Asp210Asn)
|
|
|
NM_001001433.3(STX16):c.647G>A (p.Arg216Gln)
|
|
|
NM_001001433.3(STX16):c.648+3A>G
|
|
|
NM_001001433.3(STX16):c.721C>T (p.Arg241Cys)
|
|
|
NM_001001433.3(STX16):c.752A>G (p.Asn251Ser)
|
|
|
NM_001001433.3(STX16):c.789dup (p.Gln264fs)
|
|
|
NM_001001433.3(STX16):c.792+18C>T
|
|
|
NM_001001433.3(STX16):c.803T>A (p.Leu268His)
|
|
|
NM_001001433.3(STX16):c.822C>T (p.Asn274=)
|
|
|
NM_001001433.3(STX16):c.839T>G (p.Ile280Ser)
|
|
|
NM_001001433.3(STX16):c.875C>T (p.Ala292Val)
|
rs2084118222
|
|
NM_001001433.3(STX16):c.884A>G (p.Tyr295Cys)
|
|
|
NM_001001433.3(STX16):c.907C>G (p.Leu303Val)
|
rs886056847
|
|
NM_001001433.3(STX16):c.943C>T (p.Leu315Phe)
|
|
|
NM_001001433.3(STX16):c.949G>T (p.Val317Phe)
|
|
|
NM_080425.4(GNAS):c.1005G>T (p.Pro335=)
|
rs536976542
|
|
NM_080425.4(GNAS):c.1276G>C (p.Ala426Pro)
|
rs767104257
|
|
NM_080425.4(GNAS):c.648del (p.Gly215_Tyr216insTer)
|
rs2516370196
|
|
NM_198407.2(GHSR):c.925T>A (p.Phe309Ile)
|
|
|