NM_014425.5(INVS):c.2412T>C (p.Ser804=)
|
rs2787374
|
0.53208
|
NM_014425.5(INVS):c.1235-5T>C
|
rs2245216
|
0.30271
|
NM_014425.5(INVS):c.2402G>A (p.Gly801Glu)
|
rs76868679
|
0.02854
|
NM_014425.5(INVS):c.616-19T>C
|
rs78038572
|
0.01891
|
NM_014425.5(INVS):c.*467A>T
|
rs10819755
|
0.00948
|
NM_014425.5(INVS):c.-155C>T
|
rs62577237
|
0.00805
|
NM_014425.5(INVS):c.740A>G (p.Asn247Ser)
|
rs41312220
|
0.00526
|
NM_014425.5(INVS):c.725C>T (p.Ser242Leu)
|
rs2491097
|
0.00485
|
NM_014425.5(INVS):c.1948G>C (p.Ala650Pro)
|
rs147452898
|
0.00394
|
NM_014425.5(INVS):c.2116A>G (p.Arg706Gly)
|
rs116222916
|
0.00384
|
NM_014425.5(INVS):c.2803C>T (p.His935Tyr)
|
rs139768159
|
0.00232
|
NM_014425.5(INVS):c.-17C>T
|
rs181463817
|
0.00194
|
NM_014425.5(INVS):c.3017-5T>G
|
rs201018893
|
0.00177
|
NM_014425.5(INVS):c.2193C>T (p.Gly731=)
|
rs148758887
|
0.00158
|
NM_014425.5(INVS):c.913G>A (p.Val305Ile)
|
rs116438342
|
0.00140
|
NM_014425.5(INVS):c.2310C>T (p.His770=)
|
rs116606949
|
0.00118
|
NM_014425.5(INVS):c.1945G>A (p.Val649Met)
|
rs115042730
|
0.00087
|
NM_014425.5(INVS):c.1704G>A (p.Gly568=)
|
rs114645869
|
0.00073
|
NM_014425.5(INVS):c.2454G>A (p.Ala818=)
|
rs115937161
|
0.00067
|
NM_014425.5(INVS):c.2386C>G (p.Gln796Glu)
|
rs147731667
|
0.00058
|
NM_014425.5(INVS):c.1971C>G (p.Asp657Glu)
|
rs114942117
|
0.00048
|
NM_014425.5(INVS):c.2785A>G (p.Ser929Gly)
|
rs116188920
|
0.00048
|
NM_014425.5(INVS):c.2056A>G (p.Arg686Gly)
|
rs150001738
|
0.00034
|
NM_014425.5(INVS):c.118C>G (p.Leu40Val)
|
rs148219510
|
0.00032
|
NM_014425.5(INVS):c.2278T>G (p.Ser760Ala)
|
rs146901872
|
0.00032
|
NM_014425.5(INVS):c.2200C>T (p.Arg734Trp)
|
rs370949695
|
0.00022
|
NM_014425.5(INVS):c.67G>A (p.Val23Ile)
|
rs145303373
|
0.00021
|
NM_014425.5(INVS):c.1785-20T>G
|
rs200028895
|
0.00018
|
NM_014425.5(INVS):c.1264G>C (p.Asp422His)
|
rs145243134
|
0.00014
|
NM_014425.5(INVS):c.*469A>T
|
rs886063279
|
0.00013
|
NM_014425.5(INVS):c.1787A>G (p.Lys596Arg)
|
rs751587570
|
0.00012
|
NM_014425.5(INVS):c.*5C>T
|
rs371839458
|
0.00011
|
NM_014425.5(INVS):c.*73T>A
|
rs886063273
|
0.00011
|
NM_014425.5(INVS):c.2685C>T (p.Pro895=)
|
rs371932940
|
0.00011
|
NM_014425.5(INVS):c.706G>A (p.Val236Met)
|
rs150883233
|
0.00011
|
NM_014425.5(INVS):c.2776G>A (p.Ala926Thr)
|
rs374891838
|
0.00010
|
NM_014425.5(INVS):c.1661T>C (p.Ile554Thr)
|
rs748753412
|
0.00009
|
NM_014425.5(INVS):c.1675G>A (p.Ala559Thr)
|
rs199553226
|
0.00009
|
NM_014425.5(INVS):c.2695C>T (p.Arg899Ter)
|
rs200844390
|
0.00009
|
NM_014425.5(INVS):c.284G>A (p.Arg95His)
|
rs372088206
|
0.00009
|
NM_014425.5(INVS):c.3099C>T (p.Asn1033=)
|
rs368303175
|
0.00009
|
NM_014425.5(INVS):c.2335C>T (p.Arg779Trp)
|
rs370643191
|
0.00008
|
NM_014425.5(INVS):c.2740C>T (p.Arg914Cys)
|
rs201904771
|
0.00008
|
NM_014425.5(INVS):c.1374C>A (p.Thr458=)
|
rs114912725
|
0.00007
|
NM_014425.5(INVS):c.1453del (p.Gln485fs)
|
rs753348470
|
0.00006
|
NM_014425.5(INVS):c.1943A>G (p.Asn648Ser)
|
rs116686341
|
0.00006
|
NM_014425.5(INVS):c.2673T>G (p.Ile891Met)
|
rs775260392
|
0.00006
|
NM_014425.5(INVS):c.2720G>A (p.Arg907Gln)
|
rs781064013
|
0.00006
|
NM_014425.5(INVS):c.2764G>C (p.Val922Leu)
|
rs375031657
|
0.00006
|
NM_014425.5(INVS):c.103G>A (p.Val35Ile)
|
rs368173855
|
0.00005
|
NM_014425.5(INVS):c.2089A>G (p.Lys697Glu)
|
rs374381370
|
0.00005
|
NM_014425.5(INVS):c.2782C>T (p.Arg928Ter)
|
rs376879175
|
0.00005
|
NM_014425.5(INVS):c.524T>C (p.Ile175Thr)
|
rs766187142
|
0.00005
|
NM_014425.5(INVS):c.1111A>G (p.Ser371Gly)
|
rs200546215
|
0.00004
|
NM_014425.5(INVS):c.1117G>A (p.Val373Met)
|
rs759162487
|
0.00004
|
NM_014425.5(INVS):c.1336A>C (p.Lys446Gln)
|
rs370549699
|
0.00004
|
NM_014425.5(INVS):c.1465-15T>G
|
rs772436028
|
0.00004
|
NM_014425.5(INVS):c.2307G>A (p.Pro769=)
|
rs140706545
|
0.00004
|
NM_014425.5(INVS):c.2443C>T (p.Arg815Trp)
|
rs564509196
|
0.00004
|
NM_014425.5(INVS):c.286T>C (p.Phe96Leu)
|
rs375188577
|
0.00004
|
NM_014425.5(INVS):c.3028G>A (p.Glu1010Lys)
|
rs375774619
|
0.00004
|
NM_014425.5(INVS):c.*297A>G
|
rs190277417
|
0.00003
|
NM_014425.5(INVS):c.1654G>A (p.Ala552Thr)
|
rs748693441
|
0.00003
|
NM_014425.5(INVS):c.1669A>G (p.Ile557Val)
|
rs762519529
|
0.00003
|
NM_014425.5(INVS):c.1727G>A (p.Arg576Gln)
|
rs758506682
|
0.00003
|
NM_014425.5(INVS):c.2272G>A (p.Glu758Lys)
|
rs767989658
|
0.00003
|
NM_014425.5(INVS):c.2819G>A (p.Arg940Gln)
|
rs369751285
|
0.00003
|
NM_014425.5(INVS):c.796+4C>T
|
rs371310920
|
0.00003
|
NM_014425.5(INVS):c.815A>C (p.His272Pro)
|
rs151080341
|
0.00003
|
NM_014425.5(INVS):c.2001C>T (p.Gly667=)
|
rs536554704
|
0.00002
|
NM_014425.5(INVS):c.2009T>C (p.Leu670Pro)
|
rs762112247
|
0.00002
|
NM_014425.5(INVS):c.2263G>A (p.Glu755Lys)
|
rs774692372
|
0.00002
|
NM_014425.5(INVS):c.2285G>A (p.Arg762Gln)
|
rs753540322
|
0.00002
|
NM_014425.5(INVS):c.3079C>T (p.Arg1027Cys)
|
rs771248759
|
0.00002
|
NM_014425.5(INVS):c.3106T>C (p.Cys1036Arg)
|
rs1444531400
|
0.00002
|
NM_014425.5(INVS):c.337G>A (p.Glu113Lys)
|
rs747572974
|
0.00002
|
NM_014425.5(INVS):c.*45G>A
|
rs1481874573
|
0.00001
|
NM_014425.5(INVS):c.-176C>T
|
rs1241040246
|
0.00001
|
NM_014425.5(INVS):c.1078+1G>A
|
rs375416014
|
0.00001
|
NM_014425.5(INVS):c.1177C>G (p.Pro393Ala)
|
rs1441776664
|
0.00001
|
NM_014425.5(INVS):c.1186C>T (p.Arg396Ter)
|
rs773049314
|
0.00001
|
NM_014425.5(INVS):c.1436A>G (p.Asn479Ser)
|
rs773285164
|
0.00001
|
NM_014425.5(INVS):c.1484G>A (p.Trp495Ter)
|
rs149055711
|
0.00001
|
NM_014425.5(INVS):c.1595T>C (p.Leu532Ser)
|
rs1446860684
|
0.00001
|
NM_014425.5(INVS):c.1633G>C (p.Glu545Gln)
|
rs1832999935
|
0.00001
|
NM_014425.5(INVS):c.1671C>T (p.Ile557=)
|
rs770524429
|
0.00001
|
NM_014425.5(INVS):c.1789C>T (p.Arg597Ter)
|
rs755288504
|
0.00001
|
NM_014425.5(INVS):c.1807C>T (p.Arg603Ter)
|
rs121964994
|
0.00001
|
NM_014425.5(INVS):c.1976G>A (p.Arg659Lys)
|
rs201738845
|
0.00001
|
NM_014425.5(INVS):c.2021A>G (p.Gln674Arg)
|
rs750909979
|
0.00001
|
NM_014425.5(INVS):c.2108T>C (p.Val703Ala)
|
rs1285423022
|
0.00001
|
NM_014425.5(INVS):c.2210A>G (p.Lys737Arg)
|
rs1008214234
|
0.00001
|
NM_014425.5(INVS):c.2224G>A (p.Val742Met)
|
rs115598824
|
0.00001
|
NM_014425.5(INVS):c.2380C>T (p.Arg794Cys)
|
rs556807161
|
0.00001
|
NM_014425.5(INVS):c.2381G>A (p.Arg794His)
|
rs766040970
|
0.00001
|
NM_014425.5(INVS):c.2394C>G (p.Leu798=)
|
rs751531097
|
0.00001
|
NM_014425.5(INVS):c.2485C>T (p.Arg829Cys)
|
rs780527510
|
0.00001
|
NM_014425.5(INVS):c.2539C>T (p.His847Tyr)
|
rs1041470924
|
0.00001
|
NM_014425.5(INVS):c.2570C>T (p.Ser857Leu)
|
rs775418651
|
0.00001
|
NM_014425.5(INVS):c.2714G>A (p.Arg905Lys)
|
rs753100317
|
0.00001
|
NM_014425.5(INVS):c.2786+1G>A
|
rs935629850
|
0.00001
|
NM_014425.5(INVS):c.2888A>T (p.Gln963Leu)
|
rs996350769
|
0.00001
|
NM_014425.5(INVS):c.301C>T (p.Leu101Phe)
|
rs757623556
|
0.00001
|
NM_014425.5(INVS):c.3027C>T (p.His1009=)
|
rs201136636
|
0.00001
|
NM_014425.5(INVS):c.3149C>T (p.Ser1050Phe)
|
rs969660773
|
0.00001
|
NM_014425.5(INVS):c.349C>G (p.Pro117Ala)
|
rs1021818693
|
0.00001
|
NM_014425.5(INVS):c.368G>A (p.Arg123Gln)
|
rs757534991
|
0.00001
|
NM_014425.5(INVS):c.500T>C (p.Leu167Pro)
|
rs374420212
|
0.00001
|
NM_014425.5(INVS):c.501G>A (p.Leu167=)
|
rs767884283
|
0.00001
|
NM_014425.5(INVS):c.520A>C (p.Asn174His)
|
rs370730139
|
0.00001
|
NM_014425.5(INVS):c.658G>A (p.Glu220Lys)
|
rs759684253
|
0.00001
|
NM_014425.5(INVS):c.796+5G>A
|
rs1272619479
|
0.00001
|
NM_014425.5(INVS):c.867A>C (p.Gly289=)
|
rs1227795087
|
0.00001
|
NM_014425.5(INVS):c.889G>A (p.Ala297Thr)
|
rs116475199
|
0.00001
|
NM_014425.5(INVS):c.962A>G (p.Glu321Gly)
|
rs749655348
|
0.00001
|
GRCh37/hg19 9q31.1(chr9:103059178-103060312)
|
|
|
NM_014425.5(INVS):c.*158T>C
|
rs1833944803
|
|
NM_014425.5(INVS):c.*323A>T
|
rs1833949389
|
|
NM_014425.5(INVS):c.*352A>T
|
rs1481868199
|
|
NM_014425.5(INVS):c.*415A>G
|
rs1833951689
|
|
NM_014425.5(INVS):c.*98A>G
|
rs886063274
|
|
NM_014425.5(INVS):c.-178G>A
|
rs886063263
|
|
NM_014425.5(INVS):c.118C>T (p.Leu40Phe)
|
rs148219510
|
|
NM_014425.5(INVS):c.1464+1G>A
|
rs375753623
|
|
NM_014425.5(INVS):c.1466G>A (p.Gly489Glu)
|
rs1015507237
|
|
NM_014425.5(INVS):c.1478T>C (p.Leu493Ser)
|
rs121964995
|
|
NM_014425.5(INVS):c.1496A>G (p.Asn499Ser)
|
rs1564182761
|
|
NM_014425.5(INVS):c.1544C>T (p.Pro515Leu)
|
rs1173094879
|
|
NM_014425.5(INVS):c.158T>C (p.Met53Thr)
|
rs748223529
|
|
NM_014425.5(INVS):c.1638C>T (p.His546=)
|
rs758665047
|
|
NM_014425.5(INVS):c.1639G>A (p.Gly547Ser)
|
rs368682890
|
|
NM_014425.5(INVS):c.1670T>G (p.Ile557Ser)
|
rs1833001296
|
|
NM_014425.5(INVS):c.1790G>A (p.Arg597Gln)
|
rs1291135236
|
|
NM_014425.5(INVS):c.1808G>A (p.Arg603Gln)
|
rs372596288
|
|
NM_014425.5(INVS):c.1916C>A (p.Ala639Asp)
|
rs886063268
|
|
NM_014425.5(INVS):c.1994C>G (p.Ser665Cys)
|
rs533008444
|
|
NM_014425.5(INVS):c.2002G>A (p.Gly668Arg)
|
rs764384987
|
|
NM_014425.5(INVS):c.2371C>T (p.Gln791Ter)
|
|
|
NM_014425.5(INVS):c.239G>A (p.Ser80Asn)
|
rs1231356870
|
|
NM_014425.5(INVS):c.2441C>T (p.Ala814Val)
|
rs886063269
|
|
NM_014425.5(INVS):c.2489C>T (p.Thr830Ile)
|
rs886063270
|
|
NM_014425.5(INVS):c.2501_2502del (p.Lys834fs)
|
rs777723411
|
|
NM_014425.5(INVS):c.2520C>T (p.Leu840=)
|
rs1833665397
|
|
NM_014425.5(INVS):c.2582G>C (p.Arg861Thr)
|
rs760537423
|
|
NM_014425.5(INVS):c.2686G>A (p.Val896Ile)
|
rs114847355
|
|
NM_014425.5(INVS):c.2719C>T (p.Arg907Ter)
|
rs267607185
|
|
NM_014425.5(INVS):c.273+3G>A
|
rs2118895764
|
|
NM_014425.5(INVS):c.2786+2T>C
|
rs1322951938
|
|
NM_014425.5(INVS):c.2822A>G (p.His941Arg)
|
rs886042226
|
|
NM_014425.5(INVS):c.2822A>T (p.His941Leu)
|
rs886042226
|
|
NM_014425.5(INVS):c.2874A>G (p.Thr958=)
|
rs886063271
|
|
NM_014425.5(INVS):c.2887C>T (p.Gln963Ter)
|
rs1425211517
|
|
NM_014425.5(INVS):c.2935G>A (p.Val979Ile)
|
|
|
NM_014425.5(INVS):c.2949dup (p.Lys984fs)
|
rs1588153872
|
|
NM_014425.5(INVS):c.2972C>G (p.Ser991Ter)
|
rs1329661241
|
|
NM_014425.5(INVS):c.3051A>G (p.Thr1017=)
|
rs1381275842
|
|
NM_014425.5(INVS):c.3056C>G (p.Ser1019Cys)
|
rs886063272
|
|
NM_014425.5(INVS):c.3062_3063del (p.Lys1021fs)
|
|
|
NM_014425.5(INVS):c.3182dup (p.Asn1061fs)
|
rs760013326
|
|
NM_014425.5(INVS):c.325C>T (p.Gln109Ter)
|
|
|
NM_014425.5(INVS):c.336G>A (p.Leu112=)
|
rs1564165829
|
|
NM_014425.5(INVS):c.448-19G>T
|
rs760646531
|
|
NM_014425.5(INVS):c.497_512dup (p.His171fs)
|
rs779545419
|
|
NM_014425.5(INVS):c.564G>A (p.Trp188Ter)
|
rs1564167474
|
|
NM_014425.5(INVS):c.753T>G (p.Tyr251Ter)
|
rs2118494165
|
|
NM_014425.5(INVS):c.775C>T (p.Leu259=)
|
rs886063264
|
|
NM_014425.5(INVS):c.778C>T (p.His260Tyr)
|
|
|
NM_014425.5(INVS):c.805_806del (p.Gln269fs)
|
|
|
NM_014425.5(INVS):c.849C>T (p.Ile283=)
|
rs886038605
|
|
NM_014425.5(INVS):c.875C>T (p.Pro292Leu)
|
rs1831916010
|
|
NM_014425.5(INVS):c.[796+5G>A;805_806del]
|
|
|