NM_017721.5(CC2D1A):c.1739C>T (p.Thr580Ile)
|
rs202057391
|
0.00476
|
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu)
|
rs143759519
|
0.00440
|
NM_017721.5(CC2D1A):c.1234A>G (p.Ile412Val)
|
rs191830054
|
0.00256
|
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys)
|
rs121434529
|
0.00225
|
NM_000027.4(AGA):c.436T>G (p.Leu146Val)
|
rs146381591
|
0.00188
|
NM_000293.3(PHKB):c.400G>A (p.Asp134Asn)
|
rs144486825
|
0.00176
|
NM_000293.3(PHKB):c.574A>G (p.Ile192Val)
|
rs117218785
|
0.00165
|
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp)
|
rs121912616
|
0.00150
|
NM_005609.4(PYGM):c.848A>G (p.Asn283Ser)
|
rs114468011
|
0.00081
|
NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr)
|
rs145136257
|
0.00057
|
NM_002637.4(PHKA1):c.2063G>A (p.Arg688Gln)
|
rs201234013
|
0.00010
|
NM_024298.5(MBOAT7):c.1151G>A (p.Arg384Gln)
|
rs545959971
|
0.00010
|
NM_145262.4(GLYCTK):c.457C>T (p.Arg153Trp)
|
rs199906865
|
0.00009
|
NM_000292.3(PHKA2):c.1618G>A (p.Val540Met)
|
rs368594655
|
0.00005
|
NM_000528.4(MAN2B1):c.2249G>A (p.Arg750Gln)
|
rs373240866
|
0.00004
|
NM_001040716.2(PC):c.1607C>T (p.Pro536Leu)
|
rs751657066
|
0.00004
|
NM_001358263.1(HK1):c.4G>A (p.Gly2Arg)
|
rs766565453
|
0.00004
|
NM_000147.5(FUCA1):c.923G>A (p.Arg308His)
|
rs372537257
|
0.00003
|
NM_000352.6(ABCC8):c.4051G>A (p.Val1351Met)
|
rs149331388
|
0.00003
|
NM_000365.6(TPI1):c.617G>A (p.Arg206His)
|
rs782417309
|
0.00003
|
NM_003619.4(PRSS12):c.1879C>T (p.Arg627Trp)
|
rs754920304
|
0.00003
|
NM_005271.5(GLUD1):c.1100A>G (p.Tyr367Cys)
|
rs766896575
|
0.00003
|
NM_005609.4(PYGM):c.2398C>T (p.Arg800Trp)
|
rs759260599
|
0.00002
|
NM_005915.6(MCM6):c.1654A>G (p.Ile552Val)
|
rs776037433
|
0.00002
|
NM_000027.4(AGA):c.115G>A (p.Ala39Thr)
|
rs763326444
|
0.00001
|
NM_000293.3(PHKB):c.203C>T (p.Thr68Ile)
|
rs1555472064
|
0.00001
|
NM_001040716.2(PC):c.1832C>T (p.Thr611Met)
|
rs757071897
|
0.00001
|
NM_001160372.4(TRAPPC9):c.1948G>A (p.Val650Ile)
|
rs770244296
|
0.00001
|
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser)
|
rs119103232
|
0.00001
|
NM_001807.6(CEL):c.217+34C>T
|
rs778382071
|
0.00001
|
NM_002637.4(PHKA1):c.835A>G (p.Thr279Ala)
|
rs1185410324
|
0.00001
|
NM_003384.3(VRK1):c.398G>A (p.Arg133His)
|
rs758978677
|
0.00001
|
NM_005609.4(PYGM):c.1175T>C (p.Leu392Pro)
|
rs759336535
|
0.00001
|
NM_005915.6(MCM6):c.1402C>T (p.Arg468Trp)
|
rs138808270
|
0.00001
|
NM_006721.4(ADK):c.71A>T (p.Asn24Ile)
|
rs1271395440
|
0.00001
|
NM_000181.4(GUSB):c.980G>T (p.Arg327Leu)
|
rs1583924426
|
|
NM_000263.4(NAGLU):c.1304A>G (p.Asn435Ser)
|
rs764815033
|
|
NM_000292.3(PHKA2):c.3064T>A (p.Ser1022Thr)
|
rs773766679
|
|
NM_000292.3(PHKA2):c.3590G>T (p.Cys1197Phe)
|
rs1569286164
|
|
NM_000343.4(SLC5A1):c.9_11dup (p.Ser4dup)
|
rs775681808
|
|
NM_000507.4(FBP1):c.966del (p.Asp323fs)
|
rs747269745
|
|
NM_000642.3(AGL):c.4037C>T (p.Ser1346Leu)
|
rs1553192908
|
|
NM_000925.4(PDHB):c.962C>T (p.Pro321Leu)
|
rs1576955015
|
|
NM_003041.4(SLC5A2):c.416G>A (p.Arg139His)
|
rs1378076282
|
|
NM_003041.4(SLC5A2):c.655+6G>C
|
rs779984246
|
|
NM_004130.4(GYG1):c.866G>T (p.Gly289Val)
|
rs1553733613
|
|
NM_005908.4(MANBA):c.590C>G (p.Pro197Arg)
|
rs1553951373
|
|
NM_014226.3(MOK):c.630_631dup (p.Ile211fs)
|
rs769431982
|
|
NM_017721.5(CC2D1A):c.325G>A (p.Glu109Lys)
|
rs1568405628
|
|
NM_020066.5(FMN2):c.1378G>A (p.Ala460Thr)
|
rs1463766241
|
|
NM_024989.4(PGAP1):c.339G>C (p.Glu113Asp)
|
rs1457240197
|
|
NM_145262.4(GLYCTK):c.60_62del (p.Trp21del)
|
rs1553621315
|
|
NM_152419.3(HGSNAT):c.235-9T>G
|
rs913764481
|
|
NM_181503.3(EXOSC8):c.781G>T (p.Glu261Ter)
|
rs1221939030
|
|