NM_000410.4(HFE):c.187C>G (p.His63Asp)
|
rs1799945
|
0.10170
|
NM_000140.5(FECH):c.315-48T>C
|
rs2272783
|
0.06200
|
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)
|
rs13078881
|
0.03225
|
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)
|
rs35887622
|
0.00966
|
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)
|
rs104894313
|
0.00375
|
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)
|
rs72474224
|
0.00354
|
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile)
|
rs121918166
|
0.00350
|
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys)
|
rs121434529
|
0.00225
|
NM_000155.4(GALT):c.563A>G (p.Gln188Arg)
|
rs75391579
|
0.00192
|
NM_007055.4(POLR3A):c.1909+22G>A
|
rs191875469
|
0.00156
|
NM_001080483.3(MYMK):c.271C>A (p.Pro91Thr)
|
rs137868995
|
0.00125
|
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter)
|
rs549794342
|
0.00061
|
NM_206933.4(USH2A):c.2299del (p.Glu767fs)
|
rs80338903
|
0.00055
|
NM_000275.3(OCA2):c.1255C>T (p.Arg419Trp)
|
rs143218168
|
0.00054
|
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg)
|
rs138977195
|
0.00041
|
NM_020117.11(LARS1):c.1292T>A (p.Val431Asp)
|
rs150429680
|
0.00041
|
NM_000295.5(SERPINA1):c.1177C>T (p.Pro393Ser)
|
rs61761869
|
0.00031
|
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser)
|
rs143712760
|
0.00026
|
NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro)
|
rs28939086
|
0.00021
|
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys)
|
rs183105855
|
0.00019
|
NM_000104.4(CYP1B1):c.182G>A (p.Gly61Glu)
|
rs28936700
|
0.00017
|
NM_000348.4(SRD5A2):c.586G>A (p.Gly196Ser)
|
rs121434250
|
0.00015
|
NM_001079866.2(BCS1L):c.205C>T (p.Arg69Cys)
|
rs377025174
|
0.00011
|
NM_000170.3(GLDC):c.2607C>A (p.Pro869=)
|
rs386833565
|
0.00009
|
NM_001083961.2(WDR62):c.1043+3A>G
|
rs587784541
|
0.00009
|
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)
|
rs201527662
|
0.00006
|
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)
|
rs104886142
|
0.00005
|
NM_152268.4(PARS2):c.283G>A (p.Val95Ile)
|
rs147227819
|
0.00005
|
NM_000126.4(ETFA):c.667C>T (p.Arg223Ter)
|
rs769976586
|
0.00004
|
NM_000350.3(ABCA4):c.4539+2028C>T
|
rs869320785
|
0.00004
|
NM_000391.4(TPP1):c.225A>G (p.Gln75=)
|
rs368709098
|
0.00004
|
NM_006371.5(CRTAP):c.634C>T (p.Arg212Ter)
|
rs137853944
|
0.00004
|
NM_000018.4(ACADVL):c.1226C>T (p.Thr409Met)
|
rs113994169
|
0.00003
|
NM_000135.4(FANCA):c.2778+1G>A
|
rs140180549
|
0.00002
|
NM_001034116.2(EIF2B4):c.626G>A (p.Arg209Gln)
|
rs113994028
|
0.00002
|
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu)
|
rs370228071
|
0.00002
|
NM_000170.3(GLDC):c.2368C>T (p.Arg790Trp)
|
rs386833556
|
0.00001
|
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys)
|
rs797045139
|
0.00001
|
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys)
|
rs121918459
|
0.00001
|
NM_006267.5(RANBP2):c.1754C>T (p.Thr585Met)
|
rs121434502
|
0.00001
|
NM_006846.4(SPINK5):c.2557C>T (p.Arg853Ter)
|
rs753621591
|
0.00001
|
NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln)
|
rs1557055340
|
|
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp)
|
rs727504327
|
|
NM_000138.5(FBN1):c.1556A>G (p.Tyr519Cys)
|
rs1555400278
|
|
NM_000159.4(GCDH):c.281G>A (p.Arg94Gln)
|
rs566417795
|
|
NM_000314.8(PTEN):c.140G>A (p.Arg47Lys)
|
rs1057518425
|
|
NM_000314.8(PTEN):c.397G>A (p.Val133Ile)
|
rs1859977307
|
|
NM_000414.4(HSD17B4):c.1517G>A (p.Arg506His)
|
rs1554068136
|
|
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp)
|
rs111033256
|
|
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp)
|
rs80338680
|
|
NM_001004334.4(GPR179):c.984del (p.Ser329fs)
|
rs770066665
|
|
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro)
|
rs1616940
|
|
NM_001009944.3(PKD1):c.8284_8295dup (p.Ile2762_Arg2765dup)
|
rs1596527370
|
|
NM_001035.3(RYR2):c.14569A>G (p.Ile4857Val)
|
rs1085307524
|
|
NM_001040142.2(SCN2A):c.5636T>C (p.Met1879Thr)
|
rs2105403536
|
|
NM_001042492.3(NF1):c.3545T>C (p.Val1182Ala)
|
rs2067142076
|
|
NM_001044385.3(TMEM237):c.1066dup (p.Gln356fs)
|
rs751952525
|
|
NM_001081550.2(THOC2):c.229C>T (p.Arg77Cys)
|
rs1556302160
|
|
NM_001111125.3(IQSEC2):c.3279G>A (p.Ser1093=)
|
rs1602260263
|
|
NM_001312909.2(FAM111A):c.1706G>A (p.Arg569His)
|
rs587777011
|
|
NM_001348323.3(TRIP12):c.5801C>T (p.Pro1934Leu)
|
|
|
NM_003104.6(SORD):c.757del (p.Ala253fs)
|
rs55901542
|
|
NM_004975.4(KCNB1):c.877C>T (p.Arg293Cys)
|
rs1984264748
|
|
NM_005957.5(MTHFR):c.1228_1242del (p.Ser410_Lys414del)
|
rs1297161027
|
|
NM_006009.4(TUBA1A):c.791G>A (p.Arg264His)
|
rs886043627
|
|
NM_007317.3(KIF22):c.446G>A (p.Arg149Gln)
|
rs193922922
|
|
NM_012479.4(YWHAG):c.395G>A (p.Arg132His)
|
rs1583981615
|
|
NM_015488.5(PNKD):c.20C>T (p.Ala7Val)
|
rs121434512
|
|
NM_022370.4(ROBO3):c.571dup (p.Arg191fs)
|
rs756837590
|
|
NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn)
|
rs483353055
|
|