NM_182894.3(VSX2):c.*1074C>T
|
rs34263984
|
0.06214
|
NM_182894.3(VSX2):c.*670G>A
|
rs45556237
|
0.03401
|
NM_182894.3(VSX2):c.831G>A (p.Leu277=)
|
rs62006815
|
0.02860
|
NM_182894.3(VSX2):c.*1803A>C
|
rs11848458
|
0.02759
|
NM_182894.3(VSX2):c.*39C>T
|
rs117813701
|
0.02245
|
NM_182894.3(VSX2):c.*261G>T
|
rs115396145
|
0.01157
|
NM_022369.4(STRA6):c.1416G>A (p.Ser472=)
|
rs351241
|
0.00924
|
NM_022369.4(STRA6):c.1840+12C>T
|
rs118056606
|
0.00660
|
NM_000193.4(SHH):c.300+17G>A
|
rs116412905
|
0.00504
|
NM_022369.4(STRA6):c.1223G>A (p.Arg408Gln)
|
rs150814749
|
0.00390
|
NM_001001557.4(GDF6):c.255G>T (p.Pro85=)
|
rs112296824
|
0.00366
|
NM_005689.4(ABCB6):c.688-9C>T
|
rs146410593
|
0.00294
|
NM_005689.4(ABCB6):c.1361T>C (p.Val454Ala)
|
rs61733629
|
0.00285
|
NM_001001557.4(GDF6):c.112G>C (p.Gly38Arg)
|
rs139075817
|
0.00217
|
NM_022369.4(STRA6):c.1301-12C>T
|
rs79510426
|
0.00205
|
NM_000193.4(SHH):c.869G>A (p.Gly290Asp)
|
rs104894047
|
0.00191
|
NM_020634.3(GDF3):c.583C>T (p.Arg195Trp)
|
rs112895783
|
0.00165
|
NM_182894.3(VSX2):c.*1212G>A
|
rs117409214
|
0.00120
|
NM_022369.4(STRA6):c.1685-5C>G
|
rs201730717
|
0.00112
|
NM_022369.4(STRA6):c.826C>T (p.Arg276Cys)
|
rs142089943
|
0.00106
|
NM_022369.4(STRA6):c.357C>T (p.Pro119=)
|
rs139775570
|
0.00100
|
NM_001001557.4(GDF6):c.125G>T (p.Gly42Val)
|
rs121909354
|
0.00098
|
NM_001001557.4(GDF6):c.866T>C (p.Leu289Pro)
|
rs63751220
|
0.00090
|
NM_022369.4(STRA6):c.239G>A (p.Cys80Tyr)
|
rs180889966
|
0.00070
|
NM_022369.4(STRA6):c.973G>T (p.Val325Leu)
|
rs202174410
|
0.00067
|
NM_022369.4(STRA6):c.145C>T (p.Pro49Ser)
|
rs151176007
|
0.00056
|
NM_000965.5(RARB):c.768C>T (p.Ala256=)
|
rs115482149
|
0.00049
|
NM_022369.4(STRA6):c.1419-11C>T
|
rs199508878
|
0.00048
|
NM_022369.4(STRA6):c.388G>A (p.Ala130Thr)
|
rs141477248
|
0.00045
|
NM_022369.4(STRA6):c.902C>T (p.Thr301Ile)
|
rs139450204
|
0.00040
|
NM_001001557.4(GDF6):c.407-3C>T
|
rs374740957
|
0.00026
|
NM_001001557.4(GDF6):c.429C>T (p.Leu143=)
|
rs375992269
|
0.00020
|
NM_022369.4(STRA6):c.1391T>G (p.Leu464Arg)
|
rs201408425
|
0.00020
|
NM_022369.4(STRA6):c.1692C>T (p.Tyr564=)
|
rs757931484
|
0.00020
|
NM_022369.4(STRA6):c.2001C>T (p.Pro667=)
|
rs147077716
|
0.00020
|
NM_001001557.4(GDF6):c.24C>G (p.Leu8=)
|
rs369859861
|
0.00016
|
NM_001001557.4(GDF6):c.435A>G (p.Arg145=)
|
rs369127445
|
0.00016
|
NM_022369.4(STRA6):c.1677C>T (p.Leu559=)
|
rs201582612
|
0.00016
|
NM_022369.4(STRA6):c.406+5C>T
|
rs202172221
|
0.00016
|
NM_000965.5(RARB):c.787-18A>G
|
rs188860314
|
0.00012
|
NM_000965.5(RARB):c.741C>T (p.Ile247=)
|
rs139584096
|
0.00011
|
NM_022369.4(STRA6):c.1242C>T (p.Arg414=)
|
rs568924861
|
0.00011
|
NM_022369.4(STRA6):c.407-9A>T
|
rs558310892
|
0.00011
|
NM_022369.4(STRA6):c.1566G>T (p.Val522=)
|
rs886051474
|
0.00010
|
NM_022369.4(STRA6):c.1668C>T (p.Ala556=)
|
rs372149672
|
0.00010
|
NM_001001557.4(GDF6):c.483G>T (p.Leu161=)
|
rs200585226
|
0.00009
|
NM_001001557.4(GDF6):c.90C>G (p.Ser30=)
|
rs143020575
|
0.00009
|
NM_001001557.4(GDF6):c.957C>A (p.Ala319=)
|
rs757525366
|
0.00009
|
NM_022369.4(STRA6):c.1803C>T (p.Ala601=)
|
rs2277607
|
0.00008
|
NM_001001557.4(GDF6):c.1071G>A (p.Lys357=)
|
rs151332138
|
0.00007
|
NM_022369.4(STRA6):c.366C>T (p.Asp122=)
|
rs147428518
|
0.00007
|
NM_000965.5(RARB):c.264A>T (p.Ser88=)
|
rs201295268
|
0.00006
|
NM_001001557.4(GDF6):c.700C>A (p.Arg234=)
|
rs889118413
|
0.00006
|
NM_001001557.4(GDF6):c.726C>T (p.Ala242=)
|
rs879574630
|
0.00006
|
NM_022369.4(STRA6):c.591G>A (p.Val197=)
|
rs138499753
|
0.00006
|
NM_001001557.4(GDF6):c.186G>C (p.Arg62=)
|
rs781205930
|
0.00005
|
NM_000965.5(RARB):c.991+10A>G
|
rs772873447
|
0.00004
|
NM_001001557.4(GDF6):c.30C>A (p.Ala10=)
|
rs778071820
|
0.00004
|
NM_001001557.4(GDF6):c.528C>T (p.Pro176=)
|
rs548565578
|
0.00004
|
NM_022369.4(STRA6):c.1191A>G (p.Arg397=)
|
rs373116551
|
0.00004
|
NM_000965.5(RARB):c.288C>T (p.Ser96=)
|
rs138872395
|
0.00003
|
NM_001001557.4(GDF6):c.1271A>G (p.Lys424Arg)
|
rs121909353
|
0.00003
|
NM_001001557.4(GDF6):c.1293A>G (p.Leu431=)
|
rs768948963
|
0.00003
|
NM_001001557.4(GDF6):c.33C>T (p.Val11=)
|
rs756577201
|
0.00003
|
NM_001001557.4(GDF6):c.407-19A>G
|
rs1445514042
|
0.00003
|
NM_001001557.4(GDF6):c.594C>T (p.Asp198=)
|
rs994022206
|
0.00003
|
NM_001001557.4(GDF6):c.1233C>T (p.Asp411=)
|
rs774375234
|
0.00002
|
NM_001001557.4(GDF6):c.1302C>T (p.Asp434=)
|
rs138730867
|
0.00002
|
NM_001001557.4(GDF6):c.18C>T (p.Val6=)
|
rs745979763
|
0.00002
|
NM_001001557.4(GDF6):c.546G>A (p.Gly182=)
|
rs528471783
|
0.00002
|
NM_000965.5(RARB):c.1038A>G (p.Glu346=)
|
rs760433691
|
0.00001
|
NM_001001557.4(GDF6):c.1140C>T (p.Ala380=)
|
rs1266231101
|
0.00001
|
NM_001001557.4(GDF6):c.123G>A (p.Lys41=)
|
rs756381156
|
0.00001
|
NM_001001557.4(GDF6):c.1254C>T (p.Ser418=)
|
rs1195615332
|
0.00001
|
NM_001001557.4(GDF6):c.157C>A (p.Arg53=)
|
rs753326851
|
0.00001
|
NM_001001557.4(GDF6):c.225C>T (p.Pro75=)
|
rs763584976
|
0.00001
|
NM_001001557.4(GDF6):c.246G>T (p.Ala82=)
|
rs770548453
|
0.00001
|
NM_001001557.4(GDF6):c.267T>C (p.Gly89=)
|
rs769923080
|
0.00001
|
NM_001001557.4(GDF6):c.27G>A (p.Ser9=)
|
rs1215904741
|
0.00001
|
NM_001001557.4(GDF6):c.403C>T (p.Leu135=)
|
rs1021290257
|
0.00001
|
NM_001001557.4(GDF6):c.407-5C>T
|
rs758091453
|
0.00001
|
NM_001001557.4(GDF6):c.492G>C (p.Ala164=)
|
rs757029731
|
0.00001
|
NM_001001557.4(GDF6):c.534G>T (p.Gly178=)
|
rs756016892
|
0.00001
|
NM_001001557.4(GDF6):c.583C>T (p.Leu195=)
|
rs777218109
|
0.00001
|
NM_001001557.4(GDF6):c.606G>T (p.Leu202=)
|
rs749079662
|
0.00001
|
NM_001001557.4(GDF6):c.642C>A (p.Val214=)
|
rs1343770559
|
0.00001
|
NM_001001557.4(GDF6):c.675C>T (p.Pro225=)
|
rs1199396087
|
0.00001
|
NM_001001557.4(GDF6):c.709T>C (p.Trp237Arg)
|
rs1036909955
|
0.00001
|
NM_001001557.4(GDF6):c.885G>A (p.Glu295=)
|
rs565004364
|
0.00001
|
NM_001001557.4(GDF6):c.924C>A (p.Gly308=)
|
rs1586118480
|
0.00001
|
NM_001001557.4(GDF6):c.948G>A (p.Pro316=)
|
rs774587683
|
0.00001
|
NM_022369.4(STRA6):c.1053G>A (p.Val351=)
|
rs753723974
|
0.00001
|
NM_022369.4(STRA6):c.1300+18G>A
|
rs776408592
|
0.00001
|
NM_000965.5(RARB):c.158-15C>A
|
rs374770716
|
|
NM_000965.5(RARB):c.158-7A>G
|
|
|
NM_000965.5(RARB):c.306+7A>G
|
|
|
NM_001001557.4(GDF6):c.1008G>A (p.Thr336=)
|
|
|
NM_001001557.4(GDF6):c.1011C>A (p.Ala337=)
|
|
|
NM_001001557.4(GDF6):c.1032G>A (p.Lys344=)
|
|
|
NM_001001557.4(GDF6):c.1038C>T (p.His346=)
|
|
|
NM_001001557.4(GDF6):c.1116T>C (p.Ile372=)
|
|
|
NM_001001557.4(GDF6):c.1122G>C (p.Ala374=)
|
|
|
NM_001001557.4(GDF6):c.1125C>G (p.Pro375=)
|
|
|
NM_001001557.4(GDF6):c.1146C>T (p.His382=)
|
|
|
NM_001001557.4(GDF6):c.1173G>A (p.Leu391=)
|
rs1812441998
|
|
NM_001001557.4(GDF6):c.1179G>T (p.Ser393=)
|
|
|
NM_001001557.4(GDF6):c.1194C>A (p.Thr398=)
|
rs767633784
|
|
NM_001001557.4(GDF6):c.1212G>A (p.Gln404=)
|
|
|
NM_001001557.4(GDF6):c.1242C>T (p.Ser414=)
|
|
|
NM_001001557.4(GDF6):c.1248G>T (p.Pro416=)
|
|
|
NM_001001557.4(GDF6):c.1296C>T (p.Tyr432=)
|
|
|
NM_001001557.4(GDF6):c.1347G>A (p.Val449=)
|
|
|
NM_001001557.4(GDF6):c.1353G>C (p.Ser451=)
|
|
|
NM_001001557.4(GDF6):c.1365G>A (p.Arg455=)
|
|
|
NM_001001557.4(GDF6):c.1365G>T (p.Arg455Ser)
|
|
|
NM_001001557.4(GDF6):c.141G>A (p.Lys47=)
|
|
|
NM_001001557.4(GDF6):c.144A>G (p.Glu48=)
|
|
|
NM_001001557.4(GDF6):c.168C>G (p.Arg56=)
|
|
|
NM_001001557.4(GDF6):c.180G>A (p.Ala60=)
|
|
|
NM_001001557.4(GDF6):c.19C>T (p.Leu7=)
|
|
|
NM_001001557.4(GDF6):c.201A>G (p.Pro67=)
|
rs2130238034
|
|
NM_001001557.4(GDF6):c.207G>T (p.Pro69=)
|
rs2130238023
|
|
NM_001001557.4(GDF6):c.213T>G (p.Pro71=)
|
rs1465598776
|
|
NM_001001557.4(GDF6):c.246G>A (p.Ala82=)
|
|
|
NM_001001557.4(GDF6):c.252G>A (p.Glu84=)
|
|
|
NM_001001557.4(GDF6):c.258A>T (p.Pro86=)
|
rs2130237722
|
|
NM_001001557.4(GDF6):c.273C>A (p.Arg91=)
|
|
|
NM_001001557.4(GDF6):c.276G>A (p.Val92=)
|
|
|
NM_001001557.4(GDF6):c.281C>G (p.Pro94Arg)
|
rs367883918
|
|
NM_001001557.4(GDF6):c.295C>T (p.Leu99=)
|
rs746383854
|
|
NM_001001557.4(GDF6):c.306C>T (p.Tyr102=)
|
|
|
NM_001001557.4(GDF6):c.327G>A (p.Glu109=)
|
|
|
NM_001001557.4(GDF6):c.335G>C (p.Gly112Ala)
|
|
|
NM_001001557.4(GDF6):c.339C>T (p.Ile113=)
|
|
|
NM_001001557.4(GDF6):c.363C>T (p.Ser121=)
|
|
|
NM_001001557.4(GDF6):c.366G>A (p.Lys122=)
|
|
|
NM_001001557.4(GDF6):c.36C>T (p.Phe12=)
|
|
|
NM_001001557.4(GDF6):c.378G>T (p.Thr126=)
|
rs1812738202
|
|
NM_001001557.4(GDF6):c.387C>T (p.Ser129=)
|
rs2130237359
|
|
NM_001001557.4(GDF6):c.393A>G (p.Val131=)
|
rs2130237356
|
|
NM_001001557.4(GDF6):c.398G>A (p.Arg133Lys)
|
rs2130237348
|
|
NM_001001557.4(GDF6):c.399G>A (p.Arg133=)
|
|
|
NM_001001557.4(GDF6):c.406+11A>G
|
|
|
NM_001001557.4(GDF6):c.406+15A>C
|
|
|
NM_001001557.4(GDF6):c.406+17A>G
|
rs779812603
|
|
NM_001001557.4(GDF6):c.406+19G>A
|
|
|
NM_001001557.4(GDF6):c.406+19G>T
|
|
|
NM_001001557.4(GDF6):c.407-9A>G
|
|
|
NM_001001557.4(GDF6):c.420C>T (p.His140=)
|
rs375769410
|
|
NM_001001557.4(GDF6):c.432G>C (p.Arg144=)
|
|
|
NM_001001557.4(GDF6):c.468A>G (p.Ser156=)
|
|
|
NM_001001557.4(GDF6):c.513G>A (p.Gln171=)
|
rs2130208153
|
|
NM_001001557.4(GDF6):c.534G>A (p.Gly178=)
|
|
|
NM_001001557.4(GDF6):c.549G>T (p.Pro183=)
|
|
|
NM_001001557.4(GDF6):c.558G>A (p.Val186=)
|
|
|
NM_001001557.4(GDF6):c.598C>A (p.Arg200=)
|
|
|
NM_001001557.4(GDF6):c.603C>T (p.Thr201=)
|
|
|
NM_001001557.4(GDF6):c.604C>T (p.Leu202=)
|
rs1175841699
|
|
NM_001001557.4(GDF6):c.612G>A (p.Pro204=)
|
rs777541984
|
|
NM_001001557.4(GDF6):c.612G>T (p.Pro204=)
|
|
|
NM_001001557.4(GDF6):c.627G>A (p.Pro209=)
|
|
|
NM_001001557.4(GDF6):c.727G>T (p.Gly243Trp)
|
|
|
NM_001001557.4(GDF6):c.72G>A (p.Gln24=)
|
|
|
NM_001001557.4(GDF6):c.756C>T (p.Pro252=)
|
|
|
NM_001001557.4(GDF6):c.75G>A (p.Gln25=)
|
rs776298591
|
|
NM_001001557.4(GDF6):c.765G>T (p.Pro255=)
|
|
|
NM_001001557.4(GDF6):c.774G>C (p.Pro258=)
|
rs769581547
|
|
NM_001001557.4(GDF6):c.774G>T (p.Pro258=)
|
|
|
NM_001001557.4(GDF6):c.832C>T (p.Leu278=)
|
rs2130206656
|
|
NM_001001557.4(GDF6):c.861G>A (p.Lys287=)
|
|
|
NM_001001557.4(GDF6):c.870C>T (p.Phe290=)
|
rs765928590
|
|
NM_001001557.4(GDF6):c.897G>A (p.Ser299=)
|
|
|
NM_001001557.4(GDF6):c.897G>C (p.Ser299=)
|
|
|
NM_001001557.4(GDF6):c.903G>A (p.Glu301=)
|
rs2130206381
|
|
NM_001001557.4(GDF6):c.915G>A (p.Pro305=)
|
rs1399835264
|
|
NM_001001557.4(GDF6):c.915G>C (p.Pro305=)
|
|
|
NM_001001557.4(GDF6):c.923_928dup (p.306GA[3])
|
rs1224736770
|
|
NM_001001557.4(GDF6):c.942G>A (p.Pro314=)
|
|
|
NM_001001557.4(GDF6):c.951G>T (p.Ser317=)
|
|
|
NM_001001557.4(GDF6):c.955G>A (p.Ala319Thr)
|
rs779322747
|
|
NM_001001557.4(GDF6):c.960G>A (p.Pro320=)
|
|
|
NM_001001557.4(GDF6):c.96GTC[1] (p.Ser34del)
|
rs141468446
|
|
NM_001001557.4(GDF6):c.996G>T (p.Arg332=)
|
|
|
NM_022369.4(STRA6):c.1035C>T (p.Ser345=)
|
|
|
NM_022369.4(STRA6):c.1418+18T>G
|
rs2073034363
|
|
NM_022369.4(STRA6):c.1841-12C>T
|
|
|
NM_022369.4(STRA6):c.480T>G (p.Pro160=)
|
rs2142051141
|
|
NM_022369.4(STRA6):c.498G>A (p.Thr166=)
|
|
|
NM_022369.4(STRA6):c.597+6C>T
|
rs374631703
|
|
NM_022369.4(STRA6):c.927+11C>A
|
|
|
NM_022369.4(STRA6):c.928-17C>T
|
|
|
NM_182894.3(VSX2):c.*1585A>C
|
rs6574170
|
|
NM_182894.3(VSX2):c.-46G>C
|
rs115662253
|
|