|
NM_001098.3(ACO2):c.719G>C (p.Gly240Ala)
|
rs141878785
|
0.00064
|
|
NM_000372.5(TYR):c.1037-7T>A
|
rs61754381
|
0.00051
|
|
NM_000372.5(TYR):c.1352A>G (p.Tyr451Cys)
|
rs376823382
|
0.00022
|
|
NM_033409.4(SLC52A3):c.58A>C (p.Ile20Leu)
|
rs148387972
|
0.00010
|
|
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter)
|
rs137852834
|
0.00009
|
|
NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg)
|
rs201893408
|
0.00009
|
|
NM_000180.4(GUCY2D):c.1315G>A (p.Gly439Arg)
|
rs140638938
|
0.00006
|
|
NM_000372.5(TYR):c.1A>G (p.Met1Val)
|
rs28940881
|
0.00006
|
|
NM_000153.4(GALC):c.850G>A (p.Gly284Ser)
|
rs377274761
|
0.00003
|
|
NM_001379500.1(COL18A1):c.929-2A>G
|
rs765919785
|
0.00003
|
|
NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp)
|
rs137853105
|
0.00003
|
|
NM_000372.5(TYR):c.265T>C (p.Cys89Arg)
|
rs28940877
|
0.00002
|
|
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu)
|
rs137854550
|
0.00002
|
|
NM_006796.3(AFG3L2):c.2030T>C (p.Leu677Pro)
|
rs778455371
|
0.00002
|
|
NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys)
|
rs752362727
|
0.00002
|
|
NM_153704.6(TMEM67):c.514C>T (p.Arg172Ter)
|
rs765468645
|
0.00002
|
|
NM_000089.4(COL1A2):c.280-7T>C
|
rs750868020
|
0.00001
|
|
NM_000273.3(GPR143):c.947G>A (p.Cys316Tyr)
|
rs1348263627
|
0.00001
|
|
NM_001039348.3(EFEMP1):c.1189T>C (p.Tyr397His)
|
rs1553348960
|
0.00001
|
|
NM_001042492.3(NF1):c.1987G>A (p.Gly663Arg)
|
rs140653372
|
0.00001
|
|
NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter)
|
rs768638173
|
0.00001
|
|
NM_001098.3(ACO2):c.76C>T (p.Leu26=)
|
rs1057518832
|
0.00001
|
|
NM_001822.7(CHN1):c.962G>C (p.Arg321Thr)
|
rs202153128
|
0.00001
|
|
NM_017777.4(MKS1):c.1166-2A>C
|
rs1488635637
|
0.00001
|
|
NM_198525.3(KIF7):c.434A>C (p.Tyr145Ser)
|
rs758361736
|
0.00001
|
|
GRCh37/hg19 15q11.2-13.1(chr15:23810397-29213787)
|
|
|
|
GRCh37/hg19 17p11.2(chr17:16936603-18184130)
|
|
|
|
GRCh37/hg19 17p13.3(chr17:2339561-2826073)
|
|
|
|
GRCh37/hg19 1q21.1-21.2(chr1:146618988-147824207)
|
|
|
|
GRCh37/hg19 6p24.1-23(chr6:12536624-13968949)
|
|
|
|
GRCh37/hg19 7q36.3(chr7:156333296-156556779)
|
|
|
|
GRCh37/hg19 7q36.3(chr7:156656444-156866708)
|
|
|
|
GRCh37/hg19 9q31.3(chr9:111624558-111812725)
|
|
|
|
NC_012920.1:m.11443A>C
|
rs1556423952
|
|
|
NM_000153.4(GALC):c.196G>A (p.Ala66Thr)
|
rs1057518843
|
|
|
NM_000180.4(GUCY2D):c.129_134del (p.Leu44_Leu45del)
|
rs552184470
|
|
|
NM_000266.4(NDP):c.314C>T (p.Ala105Val)
|
rs1057518836
|
|
|
NM_000273.3(GPR143):c.12_36del (p.Leu6fs)
|
rs1057518787
|
|
|
NM_000274.4(OAT):c.875A>G (p.Lys292Arg)
|
rs1057518927
|
|
|
NM_000539.3(RHO):c.891C>G (p.Ser297Arg)
|
rs142285818
|
|
|
NM_001032221.6(STXBP1):c.364C>T (p.Arg122Ter)
|
rs794727792
|
|
|
NM_001042492.3(NF1):c.1721+3A>G
|
rs1057518904
|
|
|
NM_001098.3(ACO2):c.2253dup (p.Ile752fs)
|
rs2066653512
|
|
|
NM_001098.3(ACO2):c.75C>T (p.Val25=)
|
rs1057518833
|
|
|
NM_001127222.2(CACNA1A):c.5419G>T (p.Ala1807Ser)
|
rs1555736565
|
|
|
NM_001184880.2(PCDH19):c.1091dup (p.Tyr366fs)
|
rs758946412
|
|
|
NM_001349338.3(FOXP1):c.1396C>G (p.Pro466Ala)
|
rs1057518926
|
|
|
NM_001367721.1(CASK):c.2236+1delinsAT
|
rs1555975523
|
|
|
NM_001367721.1(CASK):c.2521-2A>G
|
rs398122845
|
|
|
NM_001372066.1(TFAP2A):c.1043_1044del (p.Lys348fs)
|
rs1554110735
|
|
|
NM_001379110.1(SLC9A6):c.1190C>A (p.Ala397Glu)
|
rs1556619324
|
|
|
NM_001379500.1(COL18A1):c.3448C>T (p.Arg1150Ter)
|
rs1057518802
|
|
|
NM_001999.4(FBN2):c.7663A>G (p.Thr2555Ala)
|
rs1765343397
|
|
|
NM_002547.3(OPHN1):c.746T>C (p.Leu249Pro)
|
rs1057518963
|
|
|
NM_003072.5(SMARCA4):c.1358C>T (p.Thr453Ile)
|
rs1057518862
|
|
|
NM_006940.6(SOX5):c.482-2A>C
|
rs1057518845
|
|
|
NM_015100.4(POGZ):c.2771del (p.Pro924fs)
|
rs1553212868
|
|
|
NM_015335.5(MED13L):c.1971del (p.Asp657fs)
|
rs1555247805
|
|
|
NM_019098.5(CNGB3):c.819_826del (p.Arg274fs)
|
rs775796581
|
|
|
NM_021728.4(OTX2):c.191_193delinsGG (p.Leu64fs)
|
rs1555350397
|
|
|
NM_025114.4(CEP290):c.2941C>T (p.Gln981Ter)
|
rs1057518822
|
|
|
NM_153704.6(TMEM67):c.2418_2423dup (p.805_806MN[3])
|
rs1554558365
|
|
|
m.3700G>A
|
rs397515508
|
|