NM_003611.3(OFD1):c.919G>A (p.Val307Ile)
|
rs139444990
|
0.00041
|
NM_003611.3(OFD1):c.276T>C (p.Ser92=)
|
rs201675886
|
0.00034
|
NM_003611.3(OFD1):c.412+965C>T
|
rs778598253
|
0.00014
|
NM_003611.3(OFD1):c.1399C>T (p.Arg467Cys)
|
rs140561107
|
0.00012
|
NM_003611.3(OFD1):c.1961G>A (p.Arg654Gln)
|
rs746612831
|
0.00011
|
NM_003611.3(OFD1):c.936-2A>G
|
rs199902986
|
0.00011
|
NM_003611.3(OFD1):c.679A>G (p.Ile227Val)
|
rs748477774
|
0.00008
|
NM_003611.3(OFD1):c.2996+10T>C
|
rs769127095
|
0.00005
|
NM_003611.3(OFD1):c.1015G>A (p.Glu339Lys)
|
rs1374240720
|
0.00004
|
NM_003611.3(OFD1):c.2700C>A (p.Asn900Lys)
|
rs770634301
|
0.00004
|
NM_003611.3(OFD1):c.324G>A (p.Met108Ile)
|
rs763219658
|
0.00003
|
NM_003611.3(OFD1):c.1703G>A (p.Arg568His)
|
rs376012267
|
0.00002
|
NM_003611.3(OFD1):c.2022C>A (p.His674Gln)
|
rs759693810
|
0.00002
|
NM_003611.3(OFD1):c.2168C>T (p.Ser723Leu)
|
rs746300545
|
0.00002
|
NM_003611.3(OFD1):c.2223A>G (p.Lys741=)
|
rs1355239331
|
0.00002
|
NM_003611.3(OFD1):c.2927A>C (p.Lys976Thr)
|
rs1458317780
|
0.00002
|
NM_003611.3(OFD1):c.656T>G (p.Leu219Trp)
|
rs780055525
|
0.00002
|
NM_003611.3(OFD1):c.730A>G (p.Met244Val)
|
rs770614769
|
0.00002
|
NM_003611.3(OFD1):c.815A>G (p.His272Arg)
|
rs781277679
|
0.00002
|
NM_003611.3(OFD1):c.1030C>T (p.Arg344Ter)
|
rs758903488
|
0.00001
|
NM_003611.3(OFD1):c.1099C>G (p.Arg367Gly)
|
rs312262863
|
0.00001
|
NM_003611.3(OFD1):c.149A>G (p.His50Arg)
|
rs863225213
|
0.00001
|
NM_003611.3(OFD1):c.2224G>A (p.Ala742Thr)
|
rs1569151549
|
0.00001
|
NM_003611.3(OFD1):c.2539G>A (p.Gly847Arg)
|
rs1178559792
|
0.00001
|
NM_003611.3(OFD1):c.2928+1G>T
|
rs1190659995
|
0.00001
|
NM_003611.3(OFD1):c.2987A>G (p.Lys996Arg)
|
rs777790587
|
0.00001
|
NM_003611.3(OFD1):c.313G>A (p.Val105Ile)
|
rs772018123
|
0.00001
|
NM_003611.3(OFD1):c.676G>A (p.Glu226Lys)
|
rs1273056528
|
0.00001
|
NM_003611.3(OFD1):c.935+4A>G
|
rs1243725011
|
0.00001
|
NM_003611.3(OFD1):c.1003A>G (p.Ile335Val)
|
rs2146992617
|
|
NM_003611.3(OFD1):c.1007dup (p.Ser337fs)
|
rs749448671
|
|
NM_003611.3(OFD1):c.1056G>T (p.Lys352Asn)
|
|
|
NM_003611.3(OFD1):c.1248G>C (p.Gln416His)
|
|
|
NM_003611.3(OFD1):c.1249T>A (p.Ser417Thr)
|
|
|
NM_003611.3(OFD1):c.1309T>A (p.Tyr437Asn)
|
|
|
NM_003611.3(OFD1):c.1315C>G (p.Leu439Val)
|
|
|
NM_003611.3(OFD1):c.1412-11dup
|
rs36052228
|
|
NM_003611.3(OFD1):c.1464A>G (p.Lys488=)
|
|
|
NM_003611.3(OFD1):c.1492GAG[1] (p.Glu499del)
|
|
|
NM_003611.3(OFD1):c.1517C>G (p.Ala506Gly)
|
|
|
NM_003611.3(OFD1):c.151C>T (p.Pro51Ser)
|
|
|
NM_003611.3(OFD1):c.1649A>T (p.Gln550Leu)
|
|
|
NM_003611.3(OFD1):c.1684A>C (p.Lys562Gln)
|
rs1316461983
|
|
NM_003611.3(OFD1):c.1738C>G (p.Pro580Ala)
|
|
|
NM_003611.3(OFD1):c.1751A>G (p.Glu584Gly)
|
rs2047874237
|
|
NM_003611.3(OFD1):c.1795G>A (p.Val599Ile)
|
|
|
NM_003611.3(OFD1):c.1830T>G (p.Asn610Lys)
|
|
|
NM_003611.3(OFD1):c.1861C>T (p.Pro621Ser)
|
rs1555906903
|
|
NM_003611.3(OFD1):c.1918C>G (p.Gln640Glu)
|
rs1085307577
|
|
NM_003611.3(OFD1):c.2008CCA[1] (p.Pro671del)
|
|
|
NM_003611.3(OFD1):c.2114G>A (p.Gly705Asp)
|
|
|
NM_003611.3(OFD1):c.2135_2137dup (p.Asp712_Val713insAsp)
|
|
|
NM_003611.3(OFD1):c.2210C>A (p.Thr737Lys)
|
rs747090131
|
|
NM_003611.3(OFD1):c.2227A>G (p.Lys743Glu)
|
|
|
NM_003611.3(OFD1):c.227C>T (p.Ser76Phe)
|
rs1569102409
|
|
NM_003611.3(OFD1):c.2294C>T (p.Pro765Leu)
|
|
|
NM_003611.3(OFD1):c.230T>C (p.Leu77Ser)
|
rs1555900746
|
|
NM_003611.3(OFD1):c.2321C>T (p.Ser774Leu)
|
|
|
NM_003611.3(OFD1):c.2351T>G (p.Ile784Ser)
|
rs2047912842
|
|
NM_003611.3(OFD1):c.2600-18_2600delinsAACT
|
|
|
NM_003611.3(OFD1):c.2679_2696del (p.Arg893_Gln898del)
|
rs2048162248
|
|
NM_003611.3(OFD1):c.2714T>C (p.Leu905Ser)
|
|
|
NM_003611.3(OFD1):c.2760G>T (p.Lys920Asn)
|
rs2147085959
|
|
NM_003611.3(OFD1):c.2778G>T (p.Leu926=)
|
|
|
NM_003611.3(OFD1):c.2918C>T (p.Ser973Leu)
|
|
|
NM_003611.3(OFD1):c.2944G>A (p.Val982Ile)
|
|
|
NM_003611.3(OFD1):c.2966A>T (p.Asp989Val)
|
|
|
NM_003611.3(OFD1):c.2969C>T (p.Thr990Met)
|
|
|
NM_003611.3(OFD1):c.2981G>A (p.Ser994Asn)
|
rs1555909002
|
|
NM_003611.3(OFD1):c.3005G>C (p.Gly1002Ala)
|
|
|
NM_003611.3(OFD1):c.313-3A>G
|
rs1064796910
|
|
NM_003611.3(OFD1):c.422T>G (p.Met141Arg)
|
rs886039860
|
|
NM_003611.3(OFD1):c.698A>G (p.Glu233Gly)
|
|
|
NM_003611.3(OFD1):c.716A>G (p.Glu239Gly)
|
|
|
NM_003611.3(OFD1):c.773A>G (p.Glu258Gly)
|
|
|
NM_003611.3(OFD1):c.778C>T (p.Leu260Phe)
|
rs2146969994
|
|
NM_003611.3(OFD1):c.806A>G (p.Glu269Gly)
|
|
|
NM_003611.3(OFD1):c.829-6A>C
|
rs372044938
|
|
NM_003611.3(OFD1):c.846T>G (p.Ile282Met)
|
rs2146983984
|
|
NM_003611.3(OFD1):c.889A>G (p.Arg297Gly)
|
rs2146984200
|
|
NM_003611.3(OFD1):c.967del (p.Ser323fs)
|
rs780268478
|
|
NM_003611.3(OFD1):c.974C>T (p.Thr325Ile)
|
|
|