NM_173596.3(SLC39A5):c.-14T>C
|
rs1274497
|
0.99669
|
NM_001169109.2(SCO2):c.-14+522A>G
|
rs131805
|
0.82861
|
NM_018192.4(P3H2):c.634-17C>T
|
rs1719599
|
0.74024
|
NM_018192.4(P3H2):c.634-18C>T
|
rs1719598
|
0.74023
|
NM_005138.3(SCO2):c.633A>C (p.Ala211=)
|
rs12148
|
0.63421
|
NM_005138.3(SCO2):c.-78G>C
|
rs131806
|
0.51847
|
NM_018192.4(P3H2):c.507A>G (p.Glu169=)
|
rs9821880
|
0.29539
|
NM_018192.4(P3H2):c.696C>T (p.His232=)
|
rs1719600
|
0.18737
|
NM_173596.3(SLC39A5):c.1121G>C (p.Ser374Thr)
|
rs74812296
|
0.01466
|
NM_018192.4(P3H2):c.972A>G (p.Lys324=)
|
rs34558237
|
0.01372
|
NM_001017974.2(P4HA2):c.226G>T (p.Ala76Ser)
|
rs61739875
|
0.00608
|
NM_005138.3(SCO2):c.341G>A (p.Arg114His)
|
rs145100473
|
0.00076
|
NM_000372.5(TYR):c.1037-7T>A
|
rs61754381
|
0.00051
|
NM_018192.4(P3H2):c.555G>T (p.Gln185His)
|
rs117688924
|
0.00041
|
NM_005138.3(SCO2):c.713C>T (p.Thr238Met)
|
rs149439760
|
0.00039
|
NM_005138.3(SCO2):c.378G>A (p.Met126Ile)
|
rs150880212
|
0.00025
|
NM_005138.3(SCO2):c.127C>G (p.Pro43Ala)
|
rs147185850
|
0.00022
|
NM_152683.4(PRIMPOL):c.265T>G (p.Tyr89Asp)
|
rs200857997
|
0.00014
|
NM_005138.3(SCO2):c.418G>A (p.Glu140Lys)
|
rs74315511
|
0.00011
|
NM_005138.3(SCO2):c.784C>T (p.Arg262Cys)
|
rs201174948
|
0.00009
|
NM_013291.3(CPSF1):c.2823_2824del (p.Val943fs)
|
rs782640869
|
0.00009
|
NM_000372.5(TYR):c.1A>G (p.Met1Val)
|
rs28940881
|
0.00006
|
NM_173596.3(SLC39A5):c.141C>G (p.Tyr47Ter)
|
rs199624584
|
0.00006
|
NM_201269.3(ZNF644):c.1759A>G (p.Ile587Val)
|
rs146936371
|
0.00006
|
NM_000092.5(COL4A4):c.2320G>C (p.Gly774Arg)
|
rs569681869
|
0.00004
|
NM_000092.5(COL4A4):c.4394G>A (p.Gly1465Asp)
|
rs533297350
|
0.00004
|
NM_005138.3(SCO2):c.157C>T (p.Gln53Ter)
|
rs74315510
|
0.00004
|
NM_001017974.2(P4HA2):c.419A>G (p.Gln140Arg)
|
rs764211125
|
0.00003
|
NM_005138.3(SCO2):c.244A>G (p.Lys82Glu)
|
rs765425160
|
0.00003
|
NM_005138.3(SCO2):c.616C>T (p.Arg206Cys)
|
rs748770403
|
0.00003
|
NM_018192.4(P3H2):c.1213C>T (p.Arg405Ter)
|
rs377600857
|
0.00003
|
NM_001110556.2(FLNA):c.3934C>T (p.Arg1312Cys)
|
rs781928289
|
0.00002
|
NM_001367624.2(ZNF469):c.470G>A (p.Gly157Glu)
|
rs781096189
|
0.00002
|
NM_005138.3(SCO2):c.268C>T (p.Arg90Ter)
|
rs74315512
|
0.00002
|
NM_033133.5(CNP):c.1015G>A (p.Val339Ile)
|
rs782532165
|
0.00002
|
NM_000264.5(PTCH1):c.1274C>T (p.Thr425Met)
|
rs768956985
|
0.00001
|
NM_001017974.2(P4HA2):c.871G>A (p.Glu291Lys)
|
rs758872875
|
0.00001
|
NM_001151.4(SLC25A4):c.368C>A (p.Ala123Asp)
|
rs121912683
|
0.00001
|
NM_001367624.2(ZNF469):c.9532G>A (p.Gly3178Ser)
|
rs887755283
|
0.00001
|
NM_013390.3(CEMIP2):c.1358G>A (p.Cys453Tyr)
|
rs755447989
|
0.00001
|
NM_013390.3(CEMIP2):c.3144G>A (p.Trp1048Ter)
|
rs766829965
|
0.00001
|
NM_023012.6(RSRC2):c.425G>A (p.Arg142Gln)
|
rs752134549
|
0.00001
|
NM_033133.5(CNP):c.-67C>T
|
rs1422332023
|
0.00001
|
NM_033133.5(CNP):c.59A>C (p.Lys20Thr)
|
rs199923805
|
0.00001
|
NM_033133.5(CNP):c.59A>G (p.Lys20Arg)
|
rs199923805
|
0.00001
|
NM_152564.5(VPS13B):c.4745+1G>A
|
rs1469729130
|
0.00001
|
NM_201269.3(ZNF644):c.*592G>A
|
rs587776903
|
0.00001
|
NM_201269.3(ZNF644):c.3683A>G (p.His1228Arg)
|
rs759595796
|
0.00001
|
46;X;t(X;9)(p22.2;p13)dn
|
|
|
46;XY;t(2;14)(p23;q13)dn
|
|
|
46;XY;t(5;15)(q11.2;q24)
|
|
|
GRCh37/hg19 17p11.2(chr17:16936603-18184130)
|
|
|
GRCh37/hg19 7p22.1(chr7:5096876-5569338)x1
|
|
|
NC_012920.1:m.3275C>T
|
rs1057516057
|
|
NM_000138.5(FBN1):c.1481G>T (p.Cys494Phe)
|
rs1057518881
|
|
NM_000138.5(FBN1):c.3757_3760del (p.Gln1253fs)
|
rs2043485390
|
|
NM_000138.5(FBN1):c.6800A>T (p.Asn2267Ile)
|
rs1057518812
|
|
NM_000138.5(FBN1):c.840_843del (p.Asn280fs)
|
rs1057518909
|
|
NM_001017974.2(P4HA2):c.782C>A (p.Thr261Lys)
|
|
|
NM_001128225.3(SLC39A13):c.398C>T (p.Thr133Met)
|
rs140574574
|
|
NM_001256789.3(CACNA1F):c.694A>T (p.Lys232Ter)
|
rs1057518829
|
|
NM_001365677.2(P4HA2):c.1352_1353del (p.Val451fs)
|
rs1135402746
|
|
NM_001367624.2(ZNF469):c.2569A>G (p.Asn857Asp)
|
rs1555518955
|
|
NM_001429.4(EP300):c.2053+4A>T
|
rs1057518889
|
|
NM_001844.5(COL2A1):c.2710C>T (p.Arg904Cys)
|
rs121912882
|
|
NM_001854.4(COL11A1):c.4048_4065del (p.Ser1350_Pro1355del)
|
rs1553200431
|
|
NM_002025.4(AFF2):c.3209A>G (p.His1070Arg)
|
rs1057518785
|
|
NM_002160.4(TNC):c.890A>G (p.Asn297Ser)
|
rs1554717312
|
|
NM_002337.4(LRPAP1):c.199del (p.Gln67fs)
|
rs786205216
|
|
NM_002337.4(LRPAP1):c.605del (p.Asn202fs)
|
rs786205127
|
|
NM_002337.4(LRPAP1):c.705_708del (p.Asp236fs)
|
rs763010898
|
|
NM_002337.4(LRPAP1):c.863_864del (p.Ile288fs)
|
rs398122836
|
|
NM_002474.3(MYH11):c.4360G>C (p.Asp1454His)
|
rs1057518938
|
|
NM_004312.3(ARR3):c.214C>T (p.Arg72Ter)
|
rs2147641058
|
|
NM_004312.3(ARR3):c.239T>C (p.Leu80Pro)
|
rs1555941116
|
|
NM_004312.3(ARR3):c.298C>T (p.Arg100Ter)
|
rs1555941129
|
|
NM_004312.3(ARR3):c.553C>T (p.Arg185Cys)
|
|
|
NM_004312.3(ARR3):c.893C>A (p.Ala298Asp)
|
rs765658563
|
|
NM_005138.3(SCO2):c.508G>C (p.Glu170Gln)
|
rs753614511
|
|
NM_005138.3(SCO2):c.59G>C (p.Arg20Pro)
|
rs140523
|
|
NM_005138.3(SCO2):c.652dup (p.Gln218fs)
|
rs2148670938
|
|
NM_013291.3(CPSF1):c.1120-5C>T
|
|
|
NM_013291.3(CPSF1):c.1258_1259del (p.Lys420fs)
|
|
|
NM_013291.3(CPSF1):c.1752+4A>T
|
|
|
NM_013291.3(CPSF1):c.1858C>T (p.Gln620Ter)
|
rs1586620121
|
|
NM_013291.3(CPSF1):c.1999A>G (p.Met667Val)
|
|
|
NM_013291.3(CPSF1):c.3823G>T (p.Asp1275Tyr)
|
rs1554862601
|
|
NM_013291.3(CPSF1):c.4146-2A>G
|
rs782555528
|
|
NM_013291.3(CPSF1):c.539+1G>A
|
|
|
NM_015100.4(POGZ):c.402_409dup (p.His137fs)
|
rs1057518799
|
|
NM_017780.4(CHD7):c.6892C>T (p.Gln2298Ter)
|
rs1057518891
|
|
NM_018192.4(P3H2):c.101TGGAGC[3] (p.34LE[3])
|
rs753516272
|
|
NM_018192.4(P3H2):c.1189-17del
|
rs11311050
|
|
NM_018192.4(P3H2):c.1523G>T (p.Gly508Val)
|
rs724159988
|
|
NM_018192.4(P3H2):c.1782G>A (p.Trp594Ter)
|
rs2108908334
|
|
NM_018192.4(P3H2):c.297del (p.Gly100fs)
|
rs875989838
|
|
NM_018192.4(P3H2):c.297dup (p.Gly100fs)
|
|
|
NM_018192.4(P3H2):c.556C>T (p.Gln186Ter)
|
rs724160006
|
|
NM_018192.4(P3H2):c.679G>T (p.Glu227Ter)
|
rs1408355931
|
|
NM_032603.5(LOXL3):c.39dup (p.Leu14fs)
|
rs35904632
|
|
NM_032603.5(LOXL3):c.594del (p.Gln199fs)
|
rs2104441352
|
|
NM_032603.5(LOXL3):c.824dup (p.Ala277fs)
|
rs746133895
|
|
NM_033133.5(CNP):c.-77C>T
|
rs1387950081
|
|
NM_033133.5(CNP):c.1034G>A (p.Gly345Asp)
|
rs2051026773
|
|
NM_152564.5(VPS13B):c.11699_11702dup (p.Val3903fs)
|
rs1364947213
|
|
NM_173596.3(SLC39A5):c.1495C>T (p.Arg499Cys)
|
|
|
NM_173596.3(SLC39A5):c.227dup (p.Gln77fs)
|
rs1356255450
|
|
NM_173596.3(SLC39A5):c.911T>C (p.Met304Thr)
|
rs587777625
|
|
NM_173596.3(SLC39A5):c.964C>T (p.Arg322Ter)
|
rs148112570
|
|
NM_201269.3(ZNF644):c.1100C>T (p.Pro367Leu)
|
|
|
NM_201269.3(ZNF644):c.2014A>G (p.Ser672Gly)
|
rs387907109
|
|
NM_201269.3(ZNF644):c.2168A>G (p.His723Arg)
|
rs1651677177
|
|
NM_201269.3(ZNF644):c.3494del (p.Lys1165fs)
|
rs1651481139
|
|