NM_016247.4(IMPG2):c.3439C>T (p.Pro1147Ser)
|
rs111784356
|
0.02010
|
NM_000666.3(ACY1):c.1156C>T (p.Arg386Cys)
|
rs2229152
|
0.00516
|
NM_033100.4(CDHR1):c.783G>A (p.Pro261=)
|
rs147346345
|
0.00446
|
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys)
|
rs121912698
|
0.00260
|
NM_000071.3(CBS):c.1105C>T (p.Arg369Cys)
|
rs117687681
|
0.00255
|
NM_001017989.3(OPA3):c.184G>A (p.Gly62Ser)
|
rs140959406
|
0.00223
|
NM_001142800.2(EYS):c.3329C>G (p.Thr1110Ser)
|
rs143327210
|
0.00223
|
NM_001875.5(CPS1):c.3643A>G (p.Ile1215Val)
|
rs141373204
|
0.00119
|
NM_000277.3(PAH):c.158G>A (p.Arg53His)
|
rs118092776
|
0.00091
|
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu)
|
rs118169528
|
0.00088
|
NM_015506.3(MMACHC):c.316G>A (p.Glu106Lys)
|
rs201617713
|
0.00081
|
NM_002150.3(HPD):c.1005C>G (p.Ile335Met)
|
rs137852868
|
0.00051
|
NM_001142800.2(EYS):c.3250A>C (p.Thr1084Pro)
|
rs778646190
|
0.00049
|
NM_001142800.2(EYS):c.4402G>C (p.Asp1468His)
|
rs778752557
|
0.00049
|
NM_014251.3(SLC25A13):c.2T>C (p.Met1Thr)
|
rs541276426
|
0.00041
|
NM_001379270.1(CNGA1):c.1259G>A (p.Arg420Gln)
|
rs192912733
|
0.00034
|
NM_006017.3(PROM1):c.604C>G (p.Arg202Gly)
|
rs140872693
|
0.00026
|
NM_006017.3(PROM1):c.1780A>C (p.Ile594Leu)
|
rs200507858
|
0.00022
|
NM_001370658.1(BTD):c.38G>T (p.Cys13Phe)
|
rs141131444
|
0.00012
|
NM_001875.5(CPS1):c.167T>G (p.Met56Arg)
|
rs778958318
|
0.00007
|
NM_001012720.2(RGR):c.700G>A (p.Ala234Thr)
|
rs377043137
|
0.00003
|
NM_001370658.1(BTD):c.908A>G (p.His303Arg)
|
rs397507176
|
0.00003
|
NM_001958.5(EEF1A2):c.716C>T (p.Thr239Met)
|
rs993963334
|
0.00003
|
NM_003042.4(SLC6A1):c.31G>A (p.Gly11Arg)
|
rs1264567694
|
0.00003
|
NM_001271.4(CHD2):c.4435G>A (p.Val1479Met)
|
rs779953123
|
0.00002
|
NM_177550.5(SLC13A5):c.434C>T (p.Thr145Met)
|
rs1202091819
|
0.00002
|
NM_000137.4(FAH):c.1213T>C (p.Phe405Leu)
|
rs1341466471
|
0.00001
|
NM_000137.4(FAH):c.1214T>A (p.Phe405Tyr)
|
rs1595899559
|
0.00001
|
NM_000170.3(GLDC):c.799C>G (p.Pro267Ala)
|
rs1554648117
|
0.00001
|
NM_000191.3(HMGCL):c.392C>T (p.Ser131Leu)
|
rs1570650181
|
0.00001
|
NM_000531.6(OTC):c.493G>C (p.Asp165His)
|
rs72556275
|
0.00001
|
NM_003038.5(SLC1A4):c.272T>C (p.Leu91Pro)
|
rs1037527372
|
0.00001
|
NM_033100.4(CDHR1):c.862+4A>C
|
rs1352559639
|
0.00001
|
NM_183050.4(BCKDHB):c.115G>A (p.Ala39Thr)
|
rs914935376
|
0.00001
|
NM_000018.4(ACADVL):c.1322G>C (p.Gly441Ala)
|
rs2309689
|
|
NM_000018.4(ACADVL):c.865G>C (p.Gly289Arg)
|
rs200788251
|
|
NM_000071.3(CBS):c.1358G>A (p.Gly453Glu)
|
rs886039146
|
|
NM_000255.4(MMUT):c.1011T>A (p.Phe337Leu)
|
rs1581831934
|
|
NM_000255.4(MMUT):c.1315T>G (p.Tyr439Asp)
|
rs1581829908
|
|
NM_000531.6(OTC):c.974C>T (p.Pro325Leu)
|
rs1602034625
|
|
NM_000532.5(PCCB):c.611C>T (p.Ala204Val)
|
rs760499581
|
|
NM_000836.4(GRIN2D):c.1605G>T (p.Met535Ile)
|
rs1390364278
|
|
NM_004408.4(DNM1):c.112G>A (p.Gly38Ser)
|
rs1131692025
|
|
NM_004408.4(DNM1):c.985C>G (p.Leu329Val)
|
rs868772525
|
|
NM_004698.4(PRPF3):c.-48-2A>T
|
rs782747350
|
|
NM_005629.4(SLC6A8):c.1068C>T (p.Gly356=)
|
rs1603216989
|
|
NM_006915.3(RP2):c.884-14G>A
|
rs1602354996
|
|
NM_012469.4(PRPF6):c.2593C>T (p.His865Tyr)
|
rs1037019727
|
|
NM_015702.3(MMADHC):c.136G>C (p.Ala46Pro)
|
rs749521854
|
|
NM_021800.3(DNAJC12):c.124C>T (p.His42Tyr)
|
rs1055578473
|
|
NM_032861.4(SERAC1):c.21C>G (p.Cys7Trp)
|
rs139301835
|
|
NM_033100.4(CDHR1):c.2197G>T (p.Val733Phe)
|
rs1589309412
|
|
NM_033100.4(CDHR1):c.348+5G>T
|
rs1412093692
|
|
NM_177550.5(SLC13A5):c.272T>C (p.Leu91Pro)
|
rs1555543400
|
|
NM_177965.4(CFAP418):c.94G>A (p.Gly32Ser)
|
rs779716988
|
|