NM_000214.3(JAG1):c.3417T>C (p.Tyr1139=)
|
rs1051419
|
0.71278
|
NM_000214.3(JAG1):c.2612C>G (p.Pro871Arg)
|
rs35761929
|
0.04795
|
NM_000214.3(JAG1):c.270G>T (p.Gly90=)
|
rs114048678
|
0.02490
|
NM_000214.3(JAG1):c.2810G>A (p.Arg937Gln)
|
rs145895196
|
0.00180
|
NM_000214.3(JAG1):c.2301G>A (p.Thr767=)
|
rs147634857
|
0.00165
|
NM_000214.3(JAG1):c.909T>C (p.His303=)
|
rs139574260
|
0.00121
|
NM_000214.3(JAG1):c.1120+10A>G
|
rs201711717
|
0.00118
|
NM_000214.3(JAG1):c.2778C>T (p.Phe926=)
|
rs147793030
|
0.00109
|
NM_000214.3(JAG1):c.1578C>T (p.Ile526=)
|
rs1801139
|
0.00092
|
NM_000214.3(JAG1):c.439+10G>A
|
rs201371037
|
0.00081
|
NM_000214.3(JAG1):c.2231G>A (p.Arg744Gln)
|
rs147809756
|
0.00069
|
NM_000214.3(JAG1):c.133G>T (p.Val45Leu)
|
rs183974372
|
0.00054
|
NM_000214.3(JAG1):c.1389C>T (p.Ser463=)
|
rs147229008
|
0.00050
|
NM_000214.3(JAG1):c.1755C>T (p.Asn585=)
|
rs142808131
|
0.00045
|
NM_000214.3(JAG1):c.2329C>T (p.Pro777Ser)
|
rs202063628
|
0.00044
|
NM_000214.3(JAG1):c.814G>A (p.Val272Ile)
|
rs148990028
|
0.00041
|
NM_000214.3(JAG1):c.1920C>T (p.Asn640=)
|
rs372121353
|
0.00040
|
NM_000214.3(JAG1):c.894T>C (p.Asn298=)
|
rs149897344
|
0.00039
|
NM_000214.3(JAG1):c.2604T>C (p.Ser868=)
|
rs138189639
|
0.00032
|
NM_000214.3(JAG1):c.82G>C (p.Val28Leu)
|
rs142855305
|
0.00031
|
NM_000214.3(JAG1):c.2043G>A (p.Thr681=)
|
rs151291264
|
0.00029
|
NM_000214.3(JAG1):c.3280C>T (p.Arg1094Trp)
|
rs75652750
|
0.00024
|
NM_000214.3(JAG1):c.399G>A (p.Thr133=)
|
rs763154396
|
0.00024
|
NM_000214.3(JAG1):c.3296C>T (p.Pro1099Leu)
|
rs200949270
|
0.00023
|
NM_000214.3(JAG1):c.1348+3G>A
|
rs368718180
|
0.00022
|
NM_000214.3(JAG1):c.3507G>C (p.Arg1169=)
|
rs138452567
|
0.00022
|
NM_000214.3(JAG1):c.2073T>C (p.Cys691=)
|
rs200648035
|
0.00019
|
NM_000214.3(JAG1):c.1628G>A (p.Arg543His)
|
rs544877858
|
0.00016
|
NM_000214.3(JAG1):c.1806C>T (p.His602=)
|
rs764290237
|
0.00015
|
NM_000214.3(JAG1):c.1043G>A (p.Arg348Lys)
|
rs200227737
|
0.00014
|
NM_000214.3(JAG1):c.3467T>C (p.Val1156Ala)
|
rs143966918
|
0.00014
|
NM_000214.3(JAG1):c.526G>A (p.Val176Ile)
|
rs199674138
|
0.00013
|
NM_000214.3(JAG1):c.1146C>T (p.Asn382=)
|
rs200133928
|
0.00011
|
NM_000214.3(JAG1):c.19C>T (p.Arg7Cys)
|
rs563232654
|
0.00011
|
NM_000214.3(JAG1):c.2286C>T (p.Asn762=)
|
rs144190443
|
0.00011
|
NM_000214.3(JAG1):c.3329A>C (p.Asn1110Thr)
|
rs150811951
|
0.00011
|
NM_000214.3(JAG1):c.3346C>T (p.Arg1116Trp)
|
rs377723772
|
0.00011
|
NM_000214.3(JAG1):c.2917-7G>A
|
rs201573066
|
0.00010
|
NM_000214.3(JAG1):c.1335G>A (p.Gln445=)
|
rs759545669
|
0.00009
|
NM_000214.3(JAG1):c.1826C>T (p.Ser609Leu)
|
rs199505265
|
0.00009
|
NM_000214.3(JAG1):c.2350A>G (p.Asn784Asp)
|
rs760470297
|
0.00009
|
NM_000214.3(JAG1):c.3652G>A (p.Val1218Ile)
|
rs150295026
|
0.00007
|
NM_000214.3(JAG1):c.1655C>T (p.Pro552Leu)
|
rs201785359
|
0.00006
|
NM_000214.3(JAG1):c.204C>T (p.Arg68=)
|
rs565407240
|
0.00006
|
NM_000214.3(JAG1):c.2298T>C (p.Phe766=)
|
rs771544217
|
0.00006
|
NM_000214.3(JAG1):c.2300C>T (p.Thr767Met)
|
rs140330283
|
0.00006
|
NM_000214.3(JAG1):c.248A>G (p.Gln83Arg)
|
rs376092818
|
0.00006
|
NM_000214.3(JAG1):c.2877G>A (p.Ala959=)
|
rs142085300
|
0.00006
|
NM_000214.3(JAG1):c.3153C>T (p.Ala1051=)
|
rs754593633
|
0.00006
|
NM_000214.3(JAG1):c.3343G>A (p.Val1115Met)
|
rs148373907
|
0.00006
|
NM_000214.3(JAG1):c.3638G>A (p.Arg1213Gln)
|
rs138007561
|
0.00006
|
NM_000214.3(JAG1):c.5G>T (p.Arg2Leu)
|
rs1026004197
|
0.00006
|
NM_000214.3(JAG1):c.1464C>T (p.Ile488=)
|
rs374629171
|
0.00005
|
NM_000214.3(JAG1):c.2781C>T (p.Val927=)
|
rs746664646
|
0.00005
|
NM_000214.3(JAG1):c.2927C>T (p.Thr976Met)
|
rs751809412
|
0.00005
|
NM_000214.3(JAG1):c.3521C>T (p.Pro1174Leu)
|
rs775363555
|
0.00005
|
NM_000214.3(JAG1):c.521C>T (p.Thr174Met)
|
rs144999773
|
0.00005
|
NM_000214.3(JAG1):c.1511A>G (p.Asn504Ser)
|
rs527236046
|
0.00004
|
NM_000214.3(JAG1):c.1865C>T (p.Thr622Met)
|
rs764089304
|
0.00004
|
NM_000214.3(JAG1):c.2304C>T (p.Cys768=)
|
rs755427292
|
0.00004
|
NM_000214.3(JAG1):c.3560A>G (p.Asn1187Ser)
|
rs755420729
|
0.00004
|
NM_000214.3(JAG1):c.3651C>T (p.Ile1217=)
|
rs542831744
|
0.00004
|
NM_000214.3(JAG1):c.*9G>A
|
rs372620326
|
0.00003
|
NM_000214.3(JAG1):c.1527C>A (p.Phe509Leu)
|
rs770377023
|
0.00003
|
NM_000214.3(JAG1):c.3038A>T (p.His1013Leu)
|
rs758687380
|
0.00003
|
NM_000214.3(JAG1):c.494G>A (p.Arg165Gln)
|
rs779793192
|
0.00003
|
NM_000214.3(JAG1):c.1309G>A (p.Asp437Asn)
|
rs758876727
|
0.00002
|
NM_000214.3(JAG1):c.1443C>T (p.Gly481=)
|
rs879921003
|
0.00002
|
NM_000214.3(JAG1):c.2199C>T (p.Gly733=)
|
rs756062969
|
0.00002
|
NM_000214.3(JAG1):c.2739C>T (p.Ser913=)
|
rs766479402
|
0.00002
|
NM_000214.3(JAG1):c.3001G>A (p.Ala1001Thr)
|
rs200593413
|
0.00002
|
NM_000214.3(JAG1):c.3308C>T (p.Thr1103Ile)
|
rs781429347
|
0.00002
|
NM_000214.3(JAG1):c.388-4G>C
|
rs567027490
|
0.00002
|
NM_000214.3(JAG1):c.489C>T (p.Pro163=)
|
rs376298235
|
0.00002
|
NM_000214.3(JAG1):c.*7G>A
|
rs879800923
|
0.00001
|
NM_000214.3(JAG1):c.1101C>T (p.Thr367=)
|
rs766771784
|
0.00001
|
NM_000214.3(JAG1):c.11C>T (p.Pro4Leu)
|
rs1568807505
|
0.00001
|
NM_000214.3(JAG1):c.1214C>G (p.Thr405Ser)
|
rs1237367300
|
0.00001
|
NM_000214.3(JAG1):c.1308C>T (p.Cys436=)
|
rs764485729
|
0.00001
|
NM_000214.3(JAG1):c.1367G>A (p.Gly456Asp)
|
rs534533867
|
0.00001
|
NM_000214.3(JAG1):c.1384G>A (p.Ala462Thr)
|
rs201667840
|
0.00001
|
NM_000214.3(JAG1):c.1394G>A (p.Arg465Gln)
|
rs558315798
|
0.00001
|
NM_000214.3(JAG1):c.1415G>A (p.Arg472His)
|
rs574349599
|
0.00001
|
NM_000214.3(JAG1):c.1575C>T (p.Asp525=)
|
rs1555828589
|
0.00001
|
NM_000214.3(JAG1):c.1704C>T (p.Arg568=)
|
rs144985667
|
0.00001
|
NM_000214.3(JAG1):c.1866G>A (p.Thr622=)
|
rs140624746
|
0.00001
|
NM_000214.3(JAG1):c.1971C>T (p.Asp657=)
|
rs368661822
|
0.00001
|
NM_000214.3(JAG1):c.2148C>T (p.Asn716=)
|
rs550565756
|
0.00001
|
NM_000214.3(JAG1):c.2305G>A (p.Val769Ile)
|
rs754301929
|
0.00001
|
NM_000214.3(JAG1):c.2383G>A (p.Gly795Ser)
|
rs987799112
|
0.00001
|
NM_000214.3(JAG1):c.2393T>A (p.Val798Glu)
|
rs1308346607
|
0.00001
|
NM_000214.3(JAG1):c.2429C>T (p.Pro810Leu)
|
rs769531968
|
0.00001
|
NM_000214.3(JAG1):c.2451C>T (p.Cys817=)
|
rs747532570
|
0.00001
|
NM_000214.3(JAG1):c.2559C>T (p.Ala853=)
|
rs201234393
|
0.00001
|
NM_000214.3(JAG1):c.2671G>A (p.Ala891Thr)
|
rs1454234098
|
0.00001
|
NM_000214.3(JAG1):c.2779G>A (p.Val927Ile)
|
rs770415804
|
0.00001
|
NM_000214.3(JAG1):c.2859T>C (p.Tyr953=)
|
rs1388481192
|
0.00001
|
NM_000214.3(JAG1):c.2998A>G (p.Ile1000Val)
|
rs773974344
|
0.00001
|
NM_000214.3(JAG1):c.3286C>T (p.Arg1096Trp)
|
rs537986153
|
0.00001
|
NM_000214.3(JAG1):c.3342C>T (p.Asn1114=)
|
rs759853433
|
0.00001
|
NM_000214.3(JAG1):c.3347G>A (p.Arg1116Gln)
|
rs908755268
|
0.00001
|
NM_000214.3(JAG1):c.3515A>G (p.Lys1172Arg)
|
rs762897904
|
0.00001
|
NM_000214.3(JAG1):c.3524C>T (p.Ala1175Val)
|
rs918046091
|
0.00001
|
NM_000214.3(JAG1):c.694+1G>T
|
rs876660979
|
0.00001
|
NM_000214.3(JAG1):c.702C>T (p.Cys234=)
|
rs202109974
|
0.00001
|
NM_000214.3(JAG1):c.915G>A (p.Pro305=)
|
rs371165309
|
0.00001
|
NM_000214.3(JAG1):c.931A>G (p.Thr311Ala)
|
rs373848497
|
0.00001
|
NM_000214.2(JAG1):c.358dup (p.Ile120Asnfs)
|
rs1555830922
|
|
NM_000214.3(JAG1):c.1006+7G>C
|
rs762379208
|
|
NM_000214.3(JAG1):c.100C>T (p.Gln34Ter)
|
rs1555830976
|
|
NM_000214.3(JAG1):c.101A>C (p.Gln34Pro)
|
rs1555830973
|
|
NM_000214.3(JAG1):c.1037_1056dup (p.Glu353fs)
|
rs886043451
|
|
NM_000214.3(JAG1):c.1207C>T (p.Gln403Ter)
|
rs794727953
|
|
NM_000214.3(JAG1):c.1218_1219insGA (p.Lys407fs)
|
rs886044604
|
|
NM_000214.3(JAG1):c.1307G>A (p.Cys436Tyr)
|
rs1568796900
|
|
NM_000214.3(JAG1):c.1325G>A (p.Trp442Ter)
|
rs1568796883
|
|
NM_000214.3(JAG1):c.1326G>A (p.Trp442Ter)
|
rs794726974
|
|
NM_000214.3(JAG1):c.1346_1347del (p.Ile449fs)
|
rs1555828770
|
|
NM_000214.3(JAG1):c.1393C>T (p.Arg465Trp)
|
rs937263997
|
|
NM_000214.3(JAG1):c.1395+3A>C
|
rs886044220
|
|
NM_000214.3(JAG1):c.1395+3A>G
|
rs886044220
|
|
NM_000214.3(JAG1):c.1395+5_1395+7delinsATG
|
rs1568796544
|
|
NM_000214.3(JAG1):c.1396-2A>G
|
rs1568796298
|
|
NM_000214.3(JAG1):c.1430C>T (p.Pro477Leu)
|
rs1555828655
|
|
NM_000214.3(JAG1):c.1452_1453del (p.Cys484_Glu485delinsTer)
|
rs1568796236
|
|
NM_000214.3(JAG1):c.1459_1460insGA (p.Asp487fs)
|
rs1555828652
|
|
NM_000214.3(JAG1):c.1485_1486del (p.Cys496fs)
|
rs876660981
|
|
NM_000214.3(JAG1):c.1528C>T (p.Gln510Ter)
|
rs1568796158
|
|
NM_000214.3(JAG1):c.1537T>C (p.Cys513Arg)
|
rs1568796126
|
|
NM_000214.3(JAG1):c.1556G>C (p.Gly519Ala)
|
rs747241413
|
|
NM_000214.3(JAG1):c.1689G>A (p.Leu563=)
|
rs930662596
|
|
NM_000214.3(JAG1):c.1720+1del
|
rs886044349
|
|
NM_000214.3(JAG1):c.173_176del (p.Ala58fs)
|
rs886043130
|
|
NM_000214.3(JAG1):c.1748C>T (p.Ala583Val)
|
rs1568795311
|
|
NM_000214.3(JAG1):c.1899_1900del (p.Cys633_Glu634delinsTer)
|
rs1555828321
|
|
NM_000214.3(JAG1):c.197G>A (p.Cys66Tyr)
|
rs767480908
|
|
NM_000214.3(JAG1):c.2011T>C (p.Cys671Arg)
|
rs1568794367
|
|
NM_000214.3(JAG1):c.2017C>A (p.Gln673Lys)
|
rs1555828252
|
|
NM_000214.3(JAG1):c.203dup (p.Asp69fs)
|
rs1568807044
|
|
NM_000214.3(JAG1):c.2096_2100del (p.Gly699fs)
|
rs886039393
|
|
NM_000214.3(JAG1):c.2113+5G>A
|
rs886044704
|
|
NM_000214.3(JAG1):c.2118_2119del (p.Asp706fs)
|
rs1568794159
|
|
NM_000214.3(JAG1):c.2122C>T (p.Gln708Ter)
|
rs886044136
|
|
NM_000214.3(JAG1):c.2122_2125del (p.Gln708fs)
|
rs727504412
|
|
NM_000214.3(JAG1):c.2225_2226del (p.Ile742fs)
|
rs1555828209
|
|
NM_000214.3(JAG1):c.2230C>T (p.Arg744Ter)
|
rs863223655
|
|
NM_000214.3(JAG1):c.2270dup (p.Thr758fs)
|
rs886043605
|
|
NM_000214.3(JAG1):c.2310C>A (p.Cys770Ter)
|
rs886043904
|
|
NM_000214.3(JAG1):c.2322G>A (p.Trp774Ter)
|
rs1555828173
|
|
NM_000214.3(JAG1):c.233G>A (p.Cys78Tyr)
|
rs1555830957
|
|
NM_000214.3(JAG1):c.2345-1G>A
|
rs1568793670
|
|
NM_000214.3(JAG1):c.2345-8_2345-6del
|
rs1396652277
|
|
NM_000214.3(JAG1):c.2424T>A (p.Cys808Ter)
|
rs1568793265
|
|
NM_000214.3(JAG1):c.2458+10G>C
|
rs778204780
|
|
NM_000214.3(JAG1):c.2458+2_2458+5del
|
rs1568793232
|
|
NM_000214.3(JAG1):c.2522G>A (p.Gly841Asp)
|
rs1568792702
|
|
NM_000214.3(JAG1):c.2530_2552delinsGCACAT (p.Cys844fs)
|
rs1600179847
|
|
NM_000214.3(JAG1):c.2601_2603delinsTGATGCA (p.Ser868fs)
|
rs1568792344
|
|
NM_000214.3(JAG1):c.2653T>C (p.Cys885Arg)
|
rs1568792271
|
|
NM_000214.3(JAG1):c.2682+1G>T
|
rs1568792238
|
|
NM_000214.3(JAG1):c.2682+8A>G
|
rs560065330
|
|
NM_000214.3(JAG1):c.2689_2693del (p.Cys897fs)
|
rs1555827790
|
|
NM_000214.3(JAG1):c.2706C>A (p.Cys902Ter)
|
rs886043869
|
|
NM_000214.3(JAG1):c.270dup (p.Pro91fs)
|
rs863223667
|
|
NM_000214.3(JAG1):c.2727_2728dup (p.Glu910fs)
|
rs1600179237
|
|
NM_000214.3(JAG1):c.2728_2748del (p.Glu910_Ser916del)
|
rs1568792111
|
|
NM_000214.3(JAG1):c.2728dup (p.Glu910fs)
|
rs886042155
|
|
NM_000214.3(JAG1):c.2743C>T (p.Gln915Ter)
|
rs1568792125
|
|
NM_000214.3(JAG1):c.2801G>A (p.Gly934Asp)
|
rs1568792060
|
|
NM_000214.3(JAG1):c.2805G>A (p.Glu935=)
|
rs1568792051
|
|
NM_000214.3(JAG1):c.2807G>A (p.Cys936Tyr)
|
rs1568792050
|
|
NM_000214.3(JAG1):c.2830del (p.Pro943_Val944insTer)
|
rs1555827760
|
|
NM_000214.3(JAG1):c.294C>G (p.Ser98=)
|
rs79338570
|
|
NM_000214.3(JAG1):c.294C>T (p.Ser98=)
|
rs79338570
|
|
NM_000214.3(JAG1):c.2966dup (p.Leu989fs)
|
rs1555827729
|
|
NM_000214.3(JAG1):c.2996A>C (p.Tyr999Ser)
|
rs1555827726
|
|
NM_000214.3(JAG1):c.3007_3017dup (p.Ala1008fs)
|
rs1600178720
|
|
NM_000214.3(JAG1):c.3009_3025dup (p.Asn1009fs)
|
rs1555827717
|
|
NM_000214.3(JAG1):c.3045C>G (p.Ala1015=)
|
rs886043607
|
|
NM_000214.3(JAG1):c.3048+1G>A
|
rs876661121
|
|
NM_000214.3(JAG1):c.3048+1G>T
|
rs876661121
|
|
NM_000214.3(JAG1):c.30del (p.Arg12fs)
|
rs1568807483
|
|
NM_000214.3(JAG1):c.3127G>A (p.Asp1043Asn)
|
rs1278689263
|
|
NM_000214.3(JAG1):c.314A>G (p.Asn105Ser)
|
rs1568806951
|
|
NM_000214.3(JAG1):c.3164_3167del (p.Val1055fs)
|
rs1555827653
|
|
NM_000214.3(JAG1):c.3165_3184del (p.Arg1056fs)
|
rs1568791393
|
|
NM_000214.3(JAG1):c.3213dup (p.Leu1073fs)
|
rs1568791022
|
|
NM_000214.3(JAG1):c.3308C>A (p.Thr1103Lys)
|
rs781429347
|
|
NM_000214.3(JAG1):c.3308_3309delinsAC (p.Thr1103Asn)
|
rs1555827516
|
|
NM_000214.3(JAG1):c.3309A>C (p.Thr1103=)
|
rs1259778353
|
|
NM_000214.3(JAG1):c.3351G>C (p.Glu1117Asp)
|
rs1568790865
|
|
NM_000214.3(JAG1):c.36C>A (p.Arg12=)
|
rs886042810
|
|
NM_000214.3(JAG1):c.382T>C (p.Trp128Arg)
|
rs1568806888
|
|
NM_000214.3(JAG1):c.388-10T>A
|
rs1568803400
|
|
NM_000214.3(JAG1):c.390dup (p.Ser131fs)
|
rs886044111
|
|
NM_000214.3(JAG1):c.3G>A (p.Met1Ile)
|
rs1555831014
|
|
NM_000214.3(JAG1):c.41del (p.Leu14fs)
|
rs1568807463
|
|
NM_000214.3(JAG1):c.439+1G>A
|
rs863223648
|
|
NM_000214.3(JAG1):c.439C>T (p.Gln147Ter)
|
rs886043606
|
|
NM_000214.3(JAG1):c.459_460insT (p.Lys154Ter)
|
rs1568801096
|
|
NM_000214.3(JAG1):c.473C>G (p.Ser158Trp)
|
rs747203032
|
|
NM_000214.3(JAG1):c.474G>C (p.Ser158=)
|
rs555794483
|
|
NM_000214.3(JAG1):c.488C>G (p.Pro163Arg)
|
rs1555829676
|
|
NM_000214.3(JAG1):c.500G>A (p.Trp167Ter)
|
rs1568801068
|
|
NM_000214.3(JAG1):c.550C>T (p.Arg184Cys)
|
rs121918350
|
|
NM_000214.3(JAG1):c.551G>A (p.Arg184His)
|
rs121918351
|
|
NM_000214.3(JAG1):c.56C>T (p.Ala19Val)
|
rs886043988
|
|
NM_000214.3(JAG1):c.59T>C (p.Leu20Pro)
|
rs1568807442
|
|
NM_000214.3(JAG1):c.601C>T (p.Arg201Cys)
|
rs794727618
|
|
NM_000214.3(JAG1):c.64T>C (p.Cys22Arg)
|
rs1555831004
|
|
NM_000214.3(JAG1):c.695-10dup
|
rs762788344
|
|
NM_000214.3(JAG1):c.703C>T (p.Arg235Ter)
|
rs876660980
|
|
NM_000214.3(JAG1):c.711C>T (p.Gly237=)
|
rs1555829409
|
|
NM_000214.3(JAG1):c.756-1G>T
|
rs1568798388
|
|
NM_000214.3(JAG1):c.776G>T (p.Gly259Val)
|
rs1568798363
|
|
NM_000214.3(JAG1):c.813C>G (p.Cys271Trp)
|
rs766245856
|
|
NM_000214.3(JAG1):c.82-2A>G
|
rs1568807161
|
|
NM_000214.3(JAG1):c.841C>T (p.Gln281Ter)
|
rs886043603
|
|
NM_000214.3(JAG1):c.851G>C (p.Cys284Ser)
|
rs1555829067
|
|
NM_000214.3(JAG1):c.852_853del (p.Cys284_Glu285delinsTer)
|
rs1568798289
|
|
NM_000214.3(JAG1):c.886+3A>G
|
rs1555829065
|
|
NM_000214.3(JAG1):c.929del (p.Gly310fs)
|
rs1555829039
|
|
NM_000214.3(JAG1):c.986C>A (p.Ser329Ter)
|
rs1568798024
|
|
NM_000214.3(JAG1):c.992C>A (p.Pro331His)
|
rs886044339
|
|