ClinVar Miner

List of variants in gene JAG1

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Gene type:
ClinVar version:
Total variants: 1753
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HGVS dbSNP gnomAD frequency
NM_000214.3(JAG1):c.3417T>C (p.Tyr1139=) rs1051419 0.71278
NM_000214.3(JAG1):c.756-67A>G rs6040055 0.66772
NM_000214.3(JAG1):c.765= (p.Tyr255=) rs1131695 0.57070
NM_000214.3(JAG1):c.*1572A>G rs8708 0.55702
NM_000214.3(JAG1):c.-385T>G rs1051412 0.55267
NM_000214.3(JAG1):c.440-173C>T rs2273061 0.45420
NM_000214.3(JAG1):c.440-15T>C rs2273060 0.42936
NM_000214.3(JAG1):c.765C>T (p.Tyr255=) rs1131695 0.42930
NM_000214.3(JAG1):c.694+270C>A rs35531956 0.37225
NM_000214.3(JAG1):c.2458+236T>C rs889509 0.36136
NM_000214.3(JAG1):c.3417= (p.Tyr1139=) rs1051419 0.28722
NM_000214.3(JAG1):c.*1132T>G rs7828 0.27086
NM_000214.3(JAG1):c.3199+218G>A rs6040050 0.24704
NM_000214.3(JAG1):c.82-85C>T rs62185096 0.22775
NM_000214.3(JAG1):c.3528C>T (p.Tyr1176=) rs1051421 0.22213
NM_000214.3(JAG1):c.2572+117A>G rs73075343 0.17344
NM_000214.3(JAG1):c.3199+126T>G rs6074164 0.14552
NM_000214.3(JAG1):c.2572+274G>A rs73075342 0.14446
NM_000214.3(JAG1):c.1349-117A>C rs6108653 0.13693
NM_000214.3(JAG1):c.588C>T (p.Cys196=) rs1801138 0.10620
NM_000214.3(JAG1):c.1885+252C>T rs73243764 0.08797
NM_000214.3(JAG1):c.2214A>C (p.Thr738=) rs1801140 0.08364
NM_000214.3(JAG1):c.267G>A (p.Gly89=) rs1051415 0.08298
NM_000214.3(JAG1):c.2382C>T (p.Ser794=) rs56225585 0.07991
NM_000214.3(JAG1):c.1396-155A>G rs35308216 0.07456
NM_000214.3(JAG1):c.-433G>A rs73611723 0.07399
NC_000020.11:g.10674216C>T rs7264849 0.07239
NM_000214.3(JAG1):c.755+287T>C rs76730346 0.06958
NM_000214.3(JAG1):c.744A>G (p.Pro248=) rs10485741 0.06947
NM_000214.3(JAG1):c.695-231A>C rs55649270 0.05717
NM_000214.3(JAG1):c.388-43C>T rs17536052 0.05590
NM_000214.3(JAG1):c.755+114A>T rs76481877 0.05554
NM_000214.3(JAG1):c.2612C>G (p.Pro871Arg) rs35761929 0.04795
NC_000020.11:g.10674110T>G rs78307895 0.03602
NM_000214.3(JAG1):c.1570-136T>A rs73075352 0.03460
NM_000214.3(JAG1):c.2917-32dup rs75617279 0.03277
NM_000214.3(JAG1):c.3199+258G>T rs79656997 0.02875
NM_000214.3(JAG1):c.694+242C>A rs62185094 0.02607
NM_000214.3(JAG1):c.270G>T (p.Gly90=) rs114048678 0.02490
NM_000214.3(JAG1):c.387+117G>T rs6108660 0.02485
NM_000214.3(JAG1):c.1006+202C>T rs35793014 0.02369
NM_000214.3(JAG1):c.924C>T (p.Asn308=) rs45575136 0.02367
NM_000214.3(JAG1):c.388-149C>T rs74464347 0.02321
NM_000214.3(JAG1):c.2917-30A>G rs6108652 0.02177
NM_000214.3(JAG1):c.1886-231T>G rs113194138 0.02129
NM_000214.3(JAG1):c.1885+272G>A rs112509369 0.02105
NM_000214.3(JAG1):c.2458+30A>G rs2273059 0.02094
NM_000214.3(JAG1):c.2000-120C>T rs74803975 0.02080
NM_000214.3(JAG1):c.755+51G>A rs34742789 0.01983
NM_000214.3(JAG1):c.2766C>T (p.Asp922=) rs2229895 0.01701
NM_000214.3(JAG1):c.1885+41C>T rs115435195 0.01630
NM_000214.3(JAG1):c.439+170T>C rs143041552 0.01598
NM_000214.3(JAG1):c.2459-345C>T rs114221614 0.01565
NM_000214.3(JAG1):c.388-229C>T rs141132457 0.01419
NM_000214.3(JAG1):c.436G>A (p.Val146Ile) rs6040067 0.01238
NM_000214.3(JAG1):c.2572+281C>T rs116310079 0.01202
NM_000214.3(JAG1):c.1999+173A>G rs116234949 0.01089
NM_000214.3(JAG1):c.694+55A>G rs60171534 0.00926
NM_000214.3(JAG1):c.2227+17C>T rs115449289 0.00903
NM_000214.3(JAG1):c.1006+157A>T rs139795187 0.00893
NM_000214.3(JAG1):c.1121-205C>T rs55917221 0.00698
NM_000214.3(JAG1):c.*756A>G rs45534738 0.00635
NM_000214.3(JAG1):c.2572+194C>G rs113708660 0.00634
NM_000214.3(JAG1):c.2459-17A>C rs35891274 0.00618
NM_000214.3(JAG1):c.2573-16C>T rs112196689 0.00608
NM_000214.3(JAG1):c.2345-76A>G rs114405662 0.00540
NM_000214.3(JAG1):c.*619C>T rs146144464 0.00491
NM_000214.3(JAG1):c.1570-28C>G rs144983462 0.00425
NM_000214.3(JAG1):c.887-58A>G rs199902368 0.00404
NM_000214.3(JAG1):c.-384T>G rs559044448 0.00399
NM_000214.3(JAG1):c.1721-21G>A rs35357944 0.00396
NM_000214.3(JAG1):c.2458+28C>T rs77308315 0.00379
NM_000214.3(JAG1):c.2572+47G>A rs147841407 0.00290
NM_000214.3(JAG1):c.2458+62C>T rs146155406 0.00265
NM_000214.3(JAG1):c.439+86T>C rs184638975 0.00261
NM_000214.3(JAG1):c.886+19A>T rs200311847 0.00226
NM_000214.3(JAG1):c.2458+143G>A rs149552847 0.00201
NM_000214.3(JAG1):c.1007-16A>G rs201709907 0.00198
NM_000214.2(JAG1):c.-514G>C rs533596136 0.00192
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.2459-99T>A rs559816430 0.00129
NM_000214.3(JAG1):c.694+121T>C rs148689714 0.00128
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.*1551C>T rs760811504 0.00101
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.1349-11T>G rs80338240 0.00076
NM_000214.3(JAG1):c.2231G>A (p.Arg744Gln) rs147809756 0.00069
NM_000214.3(JAG1):c.2458+40C>T rs199571405 0.00064
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.2228-68G>A rs371437476 0.00049
NM_000214.3(JAG1):c.1755C>T (p.Asn585=) rs142808131 0.00045
NM_000214.3(JAG1):c.1235-87C>A rs138284356 0.00044
NM_000214.3(JAG1):c.2329C>T (p.Pro777Ser) rs202063628 0.00044
NM_000214.3(JAG1):c.2573-49C>T rs144886349 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.*1637A>G rs886056505 0.00037
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.*1084G>C rs148175963 0.00030
NM_000214.3(JAG1):c.*6C>T rs376881523 0.00029
NM_000214.3(JAG1):c.2043G>A (p.Thr681=) rs151291264 0.00029
NM_000214.3(JAG1):c.2344+15C>G rs200139177 0.00029
NM_000214.3(JAG1):c.1569+47C>T rs184530396 0.00028
NM_000214.3(JAG1):c.3114T>G (p.Leu1038=) rs371805640 0.00026
NM_000214.3(JAG1):c.414G>A (p.Ala138=) rs371682149 0.00026
NM_000214.3(JAG1):c.*297C>T rs575525743 0.00025
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.2459-13C>T rs543005578 0.00017
NM_000214.3(JAG1):c.*914G>A rs111277443 0.00016
NM_000214.3(JAG1):c.1628G>A (p.Arg543His) rs544877858 0.00016
NM_000214.3(JAG1):c.2596A>G (p.Met866Val) rs746108409 0.00016
NM_000214.3(JAG1):c.2979C>T (p.Ser993=) rs542976402 0.00016
NM_000214.3(JAG1):c.3048+49C>T rs139092361 0.00016
NM_000214.3(JAG1):c.1806C>T (p.His602=) rs764290237 0.00015
NM_000214.3(JAG1):c.2497G>A (p.Ala833Thr) rs574205422 0.00015
NM_000214.3(JAG1):c.3281G>A (p.Arg1094Gln) rs139629694 0.00015
NM_000214.3(JAG1):c.*253C>T rs780887274 0.00014
NM_000214.3(JAG1):c.-42G>T rs374222937 0.00014
NM_000214.3(JAG1):c.1043G>A (p.Arg348Lys) rs200227737 0.00014
NM_000214.3(JAG1):c.1885+17C>T rs547655628 0.00014
NM_000214.3(JAG1):c.3467T>C (p.Val1156Ala) rs143966918 0.00014
NM_000214.3(JAG1):c.694+26C>T rs377623653 0.00014
NM_000214.3(JAG1):c.*641C>A rs866626696 0.00013
NM_000214.3(JAG1):c.3555C>T (p.Pro1185=) rs142017684 0.00013
NM_000214.3(JAG1):c.526G>A (p.Val176Ile) rs199674138 0.00013
NM_000214.3(JAG1):c.1706C>T (p.Thr569Met) rs368438076 0.00012
NM_000214.3(JAG1):c.*1668A>C rs943169809 0.00011
NM_000214.3(JAG1):c.1146C>T (p.Asn382=) rs200133928 0.00011
NM_000214.3(JAG1):c.1885+12T>C rs377670685 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.2666G>A (p.Arg889Gln) rs149419694 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.1115C>T (p.Ser372Phe) rs772669312 0.00010
NM_000214.3(JAG1):c.1570-20G>A rs140937305 0.00010
NM_000214.3(JAG1):c.1608C>T (p.Asn536=) rs200648453 0.00010
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.3567G>A (p.Thr1189=) rs373846021 0.00009
NM_000214.3(JAG1):c.1720+17G>A rs371096301 0.00008
NM_000214.3(JAG1):c.3003T>A (p.Ala1001=) rs775926205 0.00008
NM_000214.3(JAG1):c.3006C>T (p.Cys1002=) rs372984801 0.00008
NM_000214.3(JAG1):c.1062C>T (p.Thr354=) rs201234509 0.00007
NM_000214.3(JAG1):c.1344C>T (p.Asp448=) rs754081766 0.00007
NM_000214.3(JAG1):c.2517C>T (p.Ile839=) rs560603550 0.00007
NM_000214.3(JAG1):c.2828C>T (p.Pro943Leu) rs767826365 0.00007
NM_000214.3(JAG1):c.3154G>A (p.Val1052Ile) rs375200637 0.00007
NM_000214.3(JAG1):c.3260C>T (p.Thr1087Met) rs763164530 0.00007
NM_000214.3(JAG1):c.3652G>A (p.Val1218Ile) rs150295026 0.00007
NM_000214.3(JAG1):c.732T>G (p.Ser244=) rs577656334 0.00007
NM_000214.3(JAG1):c.1015G>T (p.Ala339Ser) rs751516838 0.00006
NM_000214.3(JAG1):c.1383C>T (p.Asp461=) rs140604589 0.00006
NM_000214.3(JAG1):c.1655C>T (p.Pro552Leu) rs201785359 0.00006
NM_000214.3(JAG1):c.1720+16C>T rs374498402 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.2527C>T (p.Arg843Trp) rs201608372 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.316A>G (p.Thr106Ala) rs909905245 0.00006
NM_000214.3(JAG1):c.3333C>T (p.Thr1111=) rs141439542 0.00006
NM_000214.3(JAG1):c.3343G>A (p.Val1115Met) rs148373907 0.00006
NM_000214.3(JAG1):c.3583A>G (p.Asn1195Asp) rs397515876 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.756-14C>T rs757351921 0.00006
NM_000214.3(JAG1):c.1195G>A (p.Val399Met) rs181970528 0.00005
NM_000214.3(JAG1):c.1464C>T (p.Ile488=) rs374629171 0.00005
NM_000214.3(JAG1):c.2287G>A (p.Gly763Ser) rs746939887 0.00005
NM_000214.3(JAG1):c.2673C>T (p.Ala891=) rs149889701 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.2928G>A (p.Thr976=) rs764341568 0.00005
NM_000214.3(JAG1):c.3065G>A (p.Arg1022Gln) rs376089631 0.00005
NM_000214.3(JAG1):c.3521C>T (p.Pro1174Leu) rs775363555 0.00005
NM_000214.3(JAG1):c.3570G>A (p.Pro1190=) rs201572666 0.00005
NM_000214.3(JAG1):c.521C>T (p.Thr174Met) rs144999773 0.00005
NM_000214.3(JAG1):c.*1493A>G rs78471165 0.00004
NM_000214.3(JAG1):c.*970T>C rs886056510 0.00004
NM_000214.3(JAG1):c.1182C>T (p.Asn394=) rs372951958 0.00004
NM_000214.3(JAG1):c.1349-20A>G rs758784471 0.00004
NM_000214.3(JAG1):c.1349-7T>A rs554200350 0.00004
NM_000214.3(JAG1):c.1439C>T (p.Ala480Val) rs149366993 0.00004
NM_000214.3(JAG1):c.1511A>G (p.Asn504Ser) rs527236046 0.00004
NM_000214.3(JAG1):c.1609G>A (p.Gly537Ser) rs756787187 0.00004
NM_000214.3(JAG1):c.1756G>A (p.Asp586Asn) rs762348061 0.00004
NM_000214.3(JAG1):c.1865C>T (p.Thr622Met) rs764089304 0.00004
NM_000214.3(JAG1):c.1886-8T>G rs762958920 0.00004
NM_000214.3(JAG1):c.2139G>A (p.Thr713=) rs374177670 0.00004
NM_000214.3(JAG1):c.2304C>T (p.Cys768=) rs755427292 0.00004
NM_000214.3(JAG1):c.2312A>G (p.Lys771Arg) rs149949294 0.00004
NM_000214.3(JAG1):c.2590A>G (p.Ile864Val) rs142742183 0.00004
NM_000214.3(JAG1):c.2682+19C>T rs768434108 0.00004
NM_000214.3(JAG1):c.2701C>A (p.Pro901Thr) rs372904306 0.00004
NM_000214.3(JAG1):c.27G>C (p.Arg9=) rs766143399 0.00004
NM_000214.3(JAG1):c.2827C>T (p.Pro943Ser) rs760332763 0.00004
NM_000214.3(JAG1):c.2829G>A (p.Pro943=) rs546984480 0.00004
NM_000214.3(JAG1):c.3168A>C (p.Arg1056Ser) rs146006022 0.00004
NM_000214.3(JAG1):c.3398C>T (p.Thr1133Met) rs373260040 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.400T>C (p.Leu134=) rs140511204 0.00004
NM_000214.3(JAG1):c.439+9C>T rs374350782 0.00004
NM_000214.3(JAG1):c.522G>A (p.Thr174=) rs751230029 0.00004
NM_000214.3(JAG1):c.*9G>A rs372620326 0.00003
NM_000214.3(JAG1):c.1006+7G>T rs762379208 0.00003
NM_000214.3(JAG1):c.105C>T (p.Phe35=) rs765442930 0.00003
NM_000214.3(JAG1):c.1365T>G (p.Leu455=) rs376346902 0.00003
NM_000214.3(JAG1):c.1527C>A (p.Phe509Leu) rs770377023 0.00003
NM_000214.3(JAG1):c.1797T>C (p.Cys599=) rs746760284 0.00003
NM_000214.3(JAG1):c.2114-18T>C rs766999933 0.00003
NM_000214.3(JAG1):c.2250C>T (p.Pro750=) rs368675736 0.00003
NM_000214.3(JAG1):c.2307C>T (p.Val769=) rs1009422076 0.00003
NM_000214.3(JAG1):c.2550C>T (p.His850=) rs777696420 0.00003
NM_000214.3(JAG1):c.2980G>A (p.Ala994Thr) rs750273506 0.00003
NM_000214.3(JAG1):c.3038A>T (p.His1013Leu) rs758687380 0.00003
NM_000214.3(JAG1):c.3039T>C (p.His1013=) rs770077297 0.00003
NM_000214.3(JAG1):c.3141G>A (p.Ser1047=) rs202075581 0.00003
NM_000214.3(JAG1):c.3289C>T (p.Arg1097Trp) rs768554175 0.00003
NM_000214.3(JAG1):c.3391G>A (p.Ala1131Thr) rs769242977 0.00003
NM_000214.3(JAG1):c.3478G>A (p.Asp1160Asn) rs755047447 0.00003
NM_000214.3(JAG1):c.3525G>A (p.Ala1175=) rs745431482 0.00003
NM_000214.3(JAG1):c.3561C>T (p.Asn1187=) rs754010868 0.00003
NM_000214.3(JAG1):c.48C>A (p.Leu16=) rs901489977 0.00003
NM_000214.3(JAG1):c.494G>A (p.Arg165Gln) rs779793192 0.00003
NM_000214.3(JAG1):c.819C>T (p.His273=) rs368502056 0.00003
NM_000214.3(JAG1):c.82-20C>T rs535703725 0.00003
NM_000214.3(JAG1):c.1102G>A (p.Gly368Ser) rs372558458 0.00002
NM_000214.3(JAG1):c.1224G>A (p.Thr408=) rs771839716 0.00002
NM_000214.3(JAG1):c.1309G>A (p.Asp437Asn) rs758876727 0.00002
NM_000214.3(JAG1):c.1321G>A (p.Gly441Ser) rs1327002160 0.00002
NM_000214.3(JAG1):c.1329G>A (p.Met443Ile) rs547676061 0.00002
NM_000214.3(JAG1):c.1396-17C>T rs188166112 0.00002
NM_000214.3(JAG1):c.1443C>T (p.Gly481=) rs879921003 0.00002
NM_000214.3(JAG1):c.1707G>A (p.Thr569=) rs745608068 0.00002
NM_000214.3(JAG1):c.1720+5C>T rs757230587 0.00002
NM_000214.3(JAG1):c.1829G>A (p.Gly610Glu) rs1162038163 0.00002
NM_000214.3(JAG1):c.1835A>G (p.Lys612Arg) rs750855317 0.00002
NM_000214.3(JAG1):c.1885+18G>A rs774286742 0.00002
NM_000214.3(JAG1):c.2042C>T (p.Thr681Met) rs772675011 0.00002
NM_000214.3(JAG1):c.2049C>T (p.Arg683=) rs1389234825 0.00002
NM_000214.3(JAG1):c.2087G>A (p.Gly696Glu) rs780243244 0.00002
NM_000214.3(JAG1):c.2113C>T (p.Arg705Cys) rs1436816052 0.00002
NM_000214.3(JAG1):c.2199C>T (p.Gly733=) rs756062969 0.00002
NM_000214.3(JAG1):c.2200G>A (p.Gly734Ser) rs199561320 0.00002
NM_000214.3(JAG1):c.2227+5C>G rs371127863 0.00002
NM_000214.3(JAG1):c.2227+9A>G rs763616526 0.00002
NM_000214.3(JAG1):c.2372+13T>A rs768213112 0.00002
NM_000214.3(JAG1):c.2498C>T (p.Ala833Val) rs141292792 0.00002
NM_000214.3(JAG1):c.2499G>A (p.Ala833=) rs201954371 0.00002
NM_000214.3(JAG1):c.2535C>G (p.Val845=) rs1303093637 0.00002
NM_000214.3(JAG1):c.2552G>A (p.Ser851Asn) rs1211288472 0.00002
NM_000214.3(JAG1):c.2724C>T (p.His908=) rs765884543 0.00002
NM_000214.3(JAG1):c.2727C>T (p.Ser909=) rs561945870 0.00002
NM_000214.3(JAG1):c.2739C>T (p.Ser913=) rs766479402 0.00002
NM_000214.3(JAG1):c.2792C>T (p.Thr931Ile) rs368032094 0.00002
NM_000214.3(JAG1):c.282C>T (p.Phe94=) rs772592163 0.00002
NM_000214.3(JAG1):c.2853C>T (p.Asp951=) rs770380587 0.00002
NM_000214.3(JAG1):c.2911T>C (p.Ser971Pro) rs750570683 0.00002
NM_000214.3(JAG1):c.2997C>T (p.Tyr999=) rs375622900 0.00002
NM_000214.3(JAG1):c.3001G>A (p.Ala1001Thr) rs200593413 0.00002
NM_000214.3(JAG1):c.3048+18T>C rs767609390 0.00002
NM_000214.3(JAG1):c.3199+13T>C rs762372882 0.00002
NM_000214.3(JAG1):c.3200-12C>T rs754439203 0.00002
NM_000214.3(JAG1):c.327C>T (p.Leu109=) rs751316740 0.00002
NM_000214.3(JAG1):c.3308C>T (p.Thr1103Ile) rs781429347 0.00002
NM_000214.3(JAG1):c.3381G>A (p.Glu1127=) rs982989455 0.00002
NM_000214.3(JAG1):c.3477C>T (p.Asp1159=) rs765431052 0.00002
NM_000214.3(JAG1):c.34C>T (p.Arg12Cys) rs1452242699 0.00002
NM_000214.3(JAG1):c.3523G>A (p.Ala1175Thr) rs769685858 0.00002
NM_000214.3(JAG1):c.3542G>A (p.Arg1181Lys) rs758788135 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.694+17G>A rs1342386550 0.00002
NM_000214.3(JAG1):c.975T>G (p.Pro325=) rs1179713453 0.00002
NM_000214.2(JAG1):c.-482G>A rs886056520 0.00001
NM_000214.2(JAG1):c.-507G>A rs747888489 0.00001
NM_000214.3(JAG1):c.*1224G>A rs886056506 0.00001
NM_000214.3(JAG1):c.*1612G>A rs998342074 0.00001
NM_000214.3(JAG1):c.*18C>T rs1160652210 0.00001
NM_000214.3(JAG1):c.*21C>T rs554327524 0.00001
NM_000214.3(JAG1):c.*521T>C rs755826715 0.00001
NM_000214.3(JAG1):c.*7G>A rs879800923 0.00001
NM_000214.3(JAG1):c.*881C>T rs1191747708 0.00001
NM_000214.3(JAG1):c.-129C>T rs886056516 0.00001
NM_000214.3(JAG1):c.1006+10C>G rs1033712862 0.00001
NM_000214.3(JAG1):c.1057G>C (p.Glu353Gln) rs1600185499 0.00001
NM_000214.3(JAG1):c.1064C>T (p.Ser355Phe) rs1235681626 0.00001
NM_000214.3(JAG1):c.1101C>T (p.Thr367=) rs766771784 0.00001
NM_000214.3(JAG1):c.1110A>G (p.Thr370=) rs538048082 0.00001
NM_000214.3(JAG1):c.1117A>G (p.Thr373Ala) rs1212026437 0.00001
NM_000214.3(JAG1):c.1120+11T>C rs768847875 0.00001
NM_000214.3(JAG1):c.1155C>T (p.His385=) rs531019589 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.1223C>T (p.Thr408Met) rs773039210 0.00001
NM_000214.3(JAG1):c.1270G>A (p.Ala424Thr) rs755648887 0.00001
NM_000214.3(JAG1):c.1272C>T (p.Ala424=) rs372686313 0.00001
NM_000214.3(JAG1):c.1308C>T (p.Cys436=) rs764485729 0.00001
NM_000214.3(JAG1):c.1346T>A (p.Ile449Lys) rs1465136716 0.00001
NM_000214.3(JAG1):c.1349-19T>G rs766274191 0.00001
NM_000214.3(JAG1):c.1367G>A (p.Gly456Asp) rs534533867 0.00001
NM_000214.3(JAG1):c.1377G>C (p.Gln459His) rs762746994 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.1442G>A (p.Gly481Asp) rs753841056 0.00001
NM_000214.3(JAG1):c.1444G>A (p.Asp482Asn) rs766370717 0.00001
NM_000214.3(JAG1):c.1475C>T (p.Ala492Val) rs200250528 0.00001
NM_000214.3(JAG1):c.1536G>A (p.Leu512=) rs375773178 0.00001
NM_000214.3(JAG1):c.1575C>T (p.Asp525=) rs1555828589 0.00001
NM_000214.3(JAG1):c.1625A>G (p.Asn542Ser) rs1221893646 0.00001
NM_000214.3(JAG1):c.1627C>T (p.Arg543Cys) rs375017114 0.00001
NM_000214.3(JAG1):c.1635T>C (p.Ser545=) rs730152 0.00001
NM_000214.3(JAG1):c.1659G>T (p.Glu553Asp) rs1337206941 0.00001
NM_000214.3(JAG1):c.1668G>A (p.Glu556=) rs771304287 0.00001
NM_000214.3(JAG1):c.1680C>T (p.Cys560=) rs886041868 0.00001
NM_000214.3(JAG1):c.1702C>T (p.Arg568Cys) rs748384232 0.00001
NM_000214.3(JAG1):c.1704C>T (p.Arg568=) rs144985667 0.00001
NM_000214.3(JAG1):c.1710C>T (p.Thr570=) rs781005644 0.00001
NM_000214.3(JAG1):c.1721-15A>G rs753524030 0.00001
NM_000214.3(JAG1):c.1775G>A (p.Arg592Gln) rs1436726865 0.00001
NM_000214.3(JAG1):c.1791C>T (p.Asn597=) rs145910804 0.00001
NM_000214.3(JAG1):c.1792G>A (p.Val598Ile) rs770729371 0.00001
NM_000214.3(JAG1):c.1794C>T (p.Val598=) rs200580391 0.00001
NM_000214.3(JAG1):c.1859G>C (p.Gly620Ala) rs752105789 0.00001
NM_000214.3(JAG1):c.1866G>A (p.Thr622=) rs140624746 0.00001
NM_000214.3(JAG1):c.1875C>T (p.Tyr625=) rs533849006 0.00001
NM_000214.3(JAG1):c.1885+10C>A rs765405349 0.00001
NM_000214.3(JAG1):c.1885+11C>A rs1050896171 0.00001
NM_000214.3(JAG1):c.1885+13C>T rs773039520 0.00001
NM_000214.3(JAG1):c.1971C>T (p.Asp657=) rs368661822 0.00001
NM_000214.3(JAG1):c.2000-14C>G rs777011001 0.00001
NM_000214.3(JAG1):c.203G>C (p.Arg68Pro) rs892275570 0.00001
NM_000214.3(JAG1):c.2048G>A (p.Arg683His) rs200929472 0.00001
NM_000214.3(JAG1):c.2113+1G>A rs1294950721 0.00001
NM_000214.3(JAG1):c.2114G>A (p.Arg705His) rs1320720578 0.00001
NM_000214.3(JAG1):c.2124G>A (p.Gln708=) rs1366697758 0.00001
NM_000214.3(JAG1):c.2147A>G (p.Asn716Ser) rs765705984 0.00001
NM_000214.3(JAG1):c.2148C>T (p.Asn716=) rs550565756 0.00001
NM_000214.3(JAG1):c.2227+38G>A rs766582194 0.00001
NM_000214.3(JAG1):c.2227+7T>A rs997193086 0.00001
NM_000214.3(JAG1):c.2234A>C (p.Asn745Thr) rs1314917198 0.00001
NM_000214.3(JAG1):c.2252A>G (p.Asn751Ser) rs761942250 0.00001
NM_000214.3(JAG1):c.2305G>A (p.Val769Ile) rs754301929 0.00001
NM_000214.3(JAG1):c.2333T>C (p.Ile778Thr) rs767504037 0.00001
NM_000214.3(JAG1):c.2342A>G (p.Gln781Arg) rs2067296582 0.00001
NM_000214.3(JAG1):c.2345-10T>G rs752854231 0.00001
NM_000214.3(JAG1):c.2360G>A (p.Ser787Asn) rs761640153 0.00001
NM_000214.3(JAG1):c.2373-7T>C rs566557171 0.00001
NM_000214.3(JAG1):c.2379C>A (p.Asn793Lys) rs1418864237 0.00001
NM_000214.3(JAG1):c.2383G>A (p.Gly795Ser) rs987799112 0.00001
NM_000214.3(JAG1):c.2385C>T (p.Gly795=) rs1352321713 0.00001
NM_000214.3(JAG1):c.2393T>A (p.Val798Glu) rs1308346607 0.00001
NM_000214.3(JAG1):c.2413C>T (p.Arg805Trp) rs1458651228 0.00001
NM_000214.3(JAG1):c.2414G>A (p.Arg805Gln) rs774372899 0.00001
NM_000214.3(JAG1):c.2419G>A (p.Glu807Lys) rs564566567 0.00001
NM_000214.3(JAG1):c.2429C>T (p.Pro810Leu) rs769531968 0.00001
NM_000214.3(JAG1):c.2445C>T (p.Pro815=) rs777122869 0.00001
NM_000214.3(JAG1):c.2451C>T (p.Cys817=) rs747532570 0.00001
NM_000214.3(JAG1):c.2458+10G>A rs778204780 0.00001
NM_000214.3(JAG1):c.2458+15C>T rs1303192220 0.00001
NM_000214.3(JAG1):c.2502C>T (p.Thr834=) rs779052259 0.00001
NM_000214.3(JAG1):c.2506G>A (p.Val836Met) rs1429547453 0.00001
NM_000214.3(JAG1):c.2519A>G (p.Asn840Ser) rs1568792705 0.00001
NM_000214.3(JAG1):c.2528G>A (p.Arg843Gln) rs751448440 0.00001
NM_000214.3(JAG1):c.2559C>T (p.Ala853=) rs201234393 0.00001
NM_000214.3(JAG1):c.2572+11C>T rs1445919960 0.00001
NM_000214.3(JAG1):c.2573-10C>T rs554985367 0.00001
NM_000214.3(JAG1):c.2573-15G>A rs753341715 0.00001
NM_000214.3(JAG1):c.2589C>T (p.Cys863=) rs763502541 0.00001
NM_000214.3(JAG1):c.2609T>C (p.Ile870Thr) rs1386302689 0.00001
NM_000214.3(JAG1):c.2615A>G (p.Asp872Gly) rs111706668 0.00001
NM_000214.3(JAG1):c.261G>A (p.Thr87=) rs1393648293 0.00001
NM_000214.3(JAG1):c.264C>T (p.Ala88=) rs1473297367 0.00001
NM_000214.3(JAG1):c.2670C>T (p.Ile890=) rs776821383 0.00001
NM_000214.3(JAG1):c.2671G>A (p.Ala891Thr) rs1454234098 0.00001
NM_000214.3(JAG1):c.2682+20G>A rs764559590 0.00001
NM_000214.3(JAG1):c.2682+7C>G rs760941485 0.00001
NM_000214.3(JAG1):c.2687G>T (p.Trp896Leu) rs1227203387 0.00001
NM_000214.3(JAG1):c.2707C>T (p.Leu903=) rs778011716 0.00001
NM_000214.3(JAG1):c.2723A>G (p.His908Arg) rs150243935 0.00001
NM_000214.3(JAG1):c.2728G>A (p.Glu910Lys) rs368734792 0.00001
NM_000214.3(JAG1):c.2740G>A (p.Gly914Arg) rs376630327 0.00001
NM_000214.3(JAG1):c.2762T>C (p.Leu921Pro) rs1305578649 0.00001
NM_000214.3(JAG1):c.2767G>A (p.Asp923Asn) rs775240101 0.00001
NM_000214.3(JAG1):c.2779G>A (p.Val927Ile) rs770415804 0.00001
NM_000214.3(JAG1):c.2817C>T (p.Ser939=) rs1180418350 0.00001
NM_000214.3(JAG1):c.2859T>C (p.Tyr953=) rs1388481192 0.00001
NM_000214.3(JAG1):c.2876C>T (p.Ala959Val) rs747802983 0.00001
NM_000214.3(JAG1):c.2916+12C>T rs1232264115 0.00001
NM_000214.3(JAG1):c.2917-8C>T rs863223659 0.00001
NM_000214.3(JAG1):c.2931G>A (p.Glu977=) rs1379142756 0.00001
NM_000214.3(JAG1):c.2994C>T (p.Ile998=) rs1448335630 0.00001
NM_000214.3(JAG1):c.2998A>G (p.Ile1000Val) rs773974344 0.00001
NM_000214.3(JAG1):c.3017C>T (p.Pro1006Leu) rs747142039 0.00001
NM_000214.3(JAG1):c.303C>T (p.Val101=) rs1212837838 0.00001
NM_000214.3(JAG1):c.3048+20A>G rs924322585 0.00001
NM_000214.3(JAG1):c.3064C>T (p.Arg1022Trp) rs1057516205 0.00001
NM_000214.3(JAG1):c.306C>T (p.Ile102=) rs1351840404 0.00001
NM_000214.3(JAG1):c.3081G>A (p.Pro1027=) rs766664730 0.00001
NM_000214.3(JAG1):c.3083T>G (p.Ile1028Ser) rs761187116 0.00001
NM_000214.3(JAG1):c.3098A>G (p.Asp1033Gly) rs748220102 0.00001
NM_000214.3(JAG1):c.3108C>T (p.Ile1036=) rs149715403 0.00001
NM_000214.3(JAG1):c.3109G>A (p.Asp1037Asn) rs768823146 0.00001
NM_000214.3(JAG1):c.3159A>G (p.Ala1053=) rs1375329942 0.00001
NM_000214.3(JAG1):c.3179G>A (p.Arg1060Gln) rs773538545 0.00001
NM_000214.3(JAG1):c.3199+20A>C rs199853723 0.00001
NM_000214.3(JAG1):c.3200-9G>A rs1274886609 0.00001
NM_000214.3(JAG1):c.3227T>C (p.Val1076Ala) rs750849877 0.00001
NM_000214.3(JAG1):c.3237G>C (p.Val1079=) rs752052700 0.00001
NM_000214.3(JAG1):c.3286C>T (p.Arg1096Trp) rs537986153 0.00001
NM_000214.3(JAG1):c.3287G>A (p.Arg1096Gln) rs2067258057 0.00001
NM_000214.3(JAG1):c.3290G>A (p.Arg1097Gln) rs1462490364 0.00001
NM_000214.3(JAG1):c.3291G>C (p.Arg1097=) rs1600177787 0.00001
NM_000214.3(JAG1):c.3297G>A (p.Pro1099=) rs748849177 0.00001
NM_000214.3(JAG1):c.3307A>G (p.Thr1103Ala) rs750032058 0.00001
NM_000214.3(JAG1):c.3309A>G (p.Thr1103=) rs1259778353 0.00001
NM_000214.3(JAG1):c.3311A>T (p.His1104Leu) rs1788979891 0.00001
NM_000214.3(JAG1):c.3320C>T (p.Ser1107Phe) rs142294152 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.3385C>A (p.His1129Asn) rs768642155 0.00001
NM_000214.3(JAG1):c.3452C>A (p.Thr1151Lys) rs1362853052 0.00001
NM_000214.3(JAG1):c.3506G>A (p.Arg1169Gln) rs1268561604 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.3530C>T (p.Thr1177Met) rs533237399 0.00001
NM_000214.3(JAG1):c.3562G>A (p.Gly1188Ser) rs1051571820 0.00001
NM_000214.3(JAG1):c.3563G>C (p.Gly1188Ala) rs766368457 0.00001
NM_000214.3(JAG1):c.3566C>T (p.Thr1189Met) rs997363236 0.00001
NM_000214.3(JAG1):c.3573A>C (p.Thr1191=) rs762774678 0.00001
NM_000214.3(JAG1):c.3591A>C (p.Thr1197=) rs531698711 0.00001
NM_000214.3(JAG1):c.387G>A (p.Pro129=) rs766008628 0.00001
NM_000214.3(JAG1):c.389G>A (p.Arg130Lys) rs1409103181 0.00001
NM_000214.3(JAG1):c.390G>A (p.Arg130=) rs1417166073 0.00001
NM_000214.3(JAG1):c.418G>A (p.Asp140Asn) rs1456733889 0.00001
NM_000214.3(JAG1):c.448A>G (p.Ser150Gly) rs1229047867 0.00001
NM_000214.3(JAG1):c.474G>A (p.Ser158=) rs555794483 0.00001
NM_000214.3(JAG1):c.4C>G (p.Arg2Gly) rs984916696 0.00001
NM_000214.3(JAG1):c.525C>T (p.Gly175=) rs764607776 0.00001
NM_000214.3(JAG1):c.573C>T (p.Tyr191=) rs766426780 0.00001
NM_000214.3(JAG1):c.681C>T (p.Pro227=) rs748982554 0.00001
NM_000214.3(JAG1):c.694+1G>T rs876660979 0.00001
NM_000214.3(JAG1):c.694+3A>G rs769581869 0.00001
NM_000214.3(JAG1):c.702C>T (p.Cys234=) rs202109974 0.00001
NM_000214.3(JAG1):c.722A>G (p.Lys241Arg) rs1405610551 0.00001
NM_000214.3(JAG1):c.74G>A (p.Arg25Gln) rs1265642949 0.00001
NM_000214.3(JAG1):c.755+15C>T rs761987251 0.00001
NM_000214.3(JAG1):c.755+7del rs2067379445 0.00001
NM_000214.3(JAG1):c.81+9C>T rs1235592073 0.00001
NM_000214.3(JAG1):c.860A>G (p.Asn287Ser) rs768317581 0.00001
NM_000214.3(JAG1):c.867C>T (p.Gly289=) rs144935832 0.00001
NM_000214.3(JAG1):c.868G>A (p.Gly290Ser) rs1412480153 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_000214.3(JAG1):c.978G>A (p.Glu326=) rs1480738447 0.00001
NM_000214.3(JAG1):c.993C>T (p.Pro331=) rs1294629128 0.00001
NM_000214.3(JAG1):c.994A>G (p.Asn332Asp) rs562158374 0.00001
GRCh37/hg19 20p12.2(chr20:10639152-10639516)x1
JAG1, 1329, T-G, +2
NC_000020.10:g.(?_10653329)_(10654278_?)del
NC_000020.11:g.10641783dup rs2122597170
NC_000020.11:g.10674180C>T rs140761913
NM_000214.2(JAG1):c.-483C>T rs867504722
NM_000214.2(JAG1):c.358dup (p.Ile120Asnfs) rs1555830922
NM_000214.2:c.(755+1_756-1)_(1120+1_1121-1)del
NM_000214.3(JAG1):c.*1093_*1097del rs886056509
NM_000214.3(JAG1):c.*1133_*1136del rs886056508
NM_000214.3(JAG1):c.*1206del rs34134142
NM_000214.3(JAG1):c.*1212_*1214del rs886056507
NM_000214.3(JAG1):c.*1440A>G rs2067244785
NM_000214.3(JAG1):c.*1511dup rs571057258
NM_000214.3(JAG1):c.*1531TG[1] rs765273169
NM_000214.3(JAG1):c.*2A>G rs879254256
NM_000214.3(JAG1):c.*378T>G rs886056512
NM_000214.3(JAG1):c.*398T>C rs562655817
NM_000214.3(JAG1):c.*401C>T rs886056511
NM_000214.3(JAG1):c.*486del rs3842434
NM_000214.3(JAG1):c.*563_*565del rs139536676
NM_000214.3(JAG1):c.*587T>C rs2067250788
NM_000214.3(JAG1):c.*644AAT[1] rs572952606
NM_000214.3(JAG1):c.*856dup rs3840074
NM_000214.3(JAG1):c.*8C>T
NM_000214.3(JAG1):c.*959GTTT[2] rs748163677
NM_000214.3(JAG1):c.-105C>G rs886056515
NM_000214.3(JAG1):c.-185G>C rs1398348355
NM_000214.3(JAG1):c.-27C>G rs886056513
NM_000214.3(JAG1):c.-299AAG[1] rs147400796
NM_000214.3(JAG1):c.-364T>G rs886056517
NM_000214.3(JAG1):c.-375dup rs201660680
NM_000214.3(JAG1):c.-386dup rs886056519
NM_000214.3(JAG1):c.-458C>T rs146416672
NM_000214.3(JAG1):c.-465G>T rs943315478
NM_000214.3(JAG1):c.-528C>A rs191409481
NM_000214.3(JAG1):c.-6G>T rs2067513848
NM_000214.3(JAG1):c.-6_24del (p.Met1_Gly8del) rs863223661
NM_000214.3(JAG1):c.-73G>C rs886056514
NM_000214.3(JAG1):c.-75A>G rs1208905634
NM_000214.3(JAG1):c.-75_-61dup rs1555831023
NM_000214.3(JAG1):c.1000G>A (p.Glu334Lys)
NM_000214.3(JAG1):c.1006+16T>A
NM_000214.3(JAG1):c.1006+7G>C rs762379208
NM_000214.3(JAG1):c.1007-12del
NM_000214.3(JAG1):c.1007-2A>G rs2122613705
NM_000214.3(JAG1):c.100C>T (p.Gln34Ter) rs1555830976
NM_000214.3(JAG1):c.1013A>G (p.His338Arg) rs2067347480
NM_000214.3(JAG1):c.1013del (p.His338fs) rs2067347502
NM_000214.3(JAG1):c.1014C>T (p.His338=) rs199971175
NM_000214.3(JAG1):c.101A>C (p.Gln34Pro) rs1555830973
NM_000214.3(JAG1):c.1022T>C (p.Leu341Pro)
NM_000214.3(JAG1):c.1023C>T (p.Leu341=) rs1297627471
NM_000214.3(JAG1):c.1025C>G (p.Ser342Cys)
NM_000214.3(JAG1):c.1025_1026del (p.Leu341_Ser342insTer) rs2067347395
NM_000214.3(JAG1):c.1036C>T (p.His346Tyr) rs2067347304
NM_000214.3(JAG1):c.1037_1056dup (p.Glu353fs) rs886043451
NM_000214.3(JAG1):c.1047C>A (p.Gly349=)
NM_000214.3(JAG1):c.1047dup (p.Ser350fs) rs863223670
NM_000214.3(JAG1):c.1052del (p.Cys351fs)
NM_000214.3(JAG1):c.1056G>C (p.Lys352Asn)
NM_000214.3(JAG1):c.1057G>T (p.Glu353Ter) rs1600185499
NM_000214.3(JAG1):c.1059G>C (p.Glu353Asp)
NM_000214.3(JAG1):c.1064C>A (p.Ser355Tyr)
NM_000214.3(JAG1):c.1066C>A (p.Leu356Met) rs2122613611
NM_000214.3(JAG1):c.106G>A (p.Glu36Lys)
NM_000214.3(JAG1):c.1079G>T (p.Cys360Phe)
NM_000214.3(JAG1):c.107del (p.Glu36fs)
NM_000214.3(JAG1):c.1082_1083del (p.Glu361fs) rs876661111
NM_000214.3(JAG1):c.1083G>T (p.Glu361Asp)
NM_000214.3(JAG1):c.1084delinsGGCTTTGA (p.Cys362fs) rs2067346904
NM_000214.3(JAG1):c.1092A>G (p.Pro364=)
NM_000214.3(JAG1):c.10C>T (p.Pro4Ser)
NM_000214.3(JAG1):c.1101dup (p.Gly368fs) rs2122613554
NM_000214.3(JAG1):c.110T>C (p.Leu37Ser) rs121918352
NM_000214.3(JAG1):c.1119A>G (p.Thr373=)
NM_000214.3(JAG1):c.111G>A (p.Leu37=)
NM_000214.3(JAG1):c.1120+18C>T
NM_000214.3(JAG1):c.1121-14T>C
NM_000214.3(JAG1):c.1121-14_1121-10del rs2122611723
NM_000214.3(JAG1):c.1121-20C>G
NM_000214.3(JAG1):c.1121_1122insTCCT (p.Ile375fs) rs2067337118
NM_000214.3(JAG1):c.1123A>G (p.Ile375Val) rs2122611687
NM_000214.3(JAG1):c.1131C>A (p.Asp377Glu)
NM_000214.3(JAG1):c.1138_1140del (p.Pro380del)
NM_000214.3(JAG1):c.1139del (p.Pro380fs) rs2122611660
NM_000214.3(JAG1):c.1153C>T (p.His385Tyr)
NM_000214.3(JAG1):c.1155C>A (p.His385Gln) rs531019589
NM_000214.3(JAG1):c.1156G>A (p.Gly386Arg) rs863223650
NM_000214.3(JAG1):c.1160G>A (p.Gly387Asp)
NM_000214.3(JAG1):c.116T>A (p.Ile39Asn) rs2067508041
NM_000214.3(JAG1):c.1177G>C (p.Val393Leu)
NM_000214.3(JAG1):c.117C>A (p.Ile39=)
NM_000214.3(JAG1):c.1181A>G (p.Asn394Ser)
NM_000214.3(JAG1):c.1181dup (p.Asn394fs)
NM_000214.3(JAG1):c.1188dup (p.Lys397Ter)
NM_000214.3(JAG1):c.1189A>T (p.Lys397Ter)
NM_000214.3(JAG1):c.1198_1199dup (p.Pro401fs) rs1555828843
NM_000214.3(JAG1):c.1202C>T (p.Pro401Leu)
NM_000214.3(JAG1):c.1205C>A (p.Pro402Gln)
NM_000214.3(JAG1):c.1205C>G (p.Pro402Arg) rs144204614
NM_000214.3(JAG1):c.1205del (p.Pro402fs) rs35615084
NM_000214.3(JAG1):c.1205dup (p.Gln403fs) rs35615084
NM_000214.3(JAG1):c.1207C>T (p.Gln403Ter) rs794727953
NM_000214.3(JAG1):c.1209G>A (p.Gln403=)
NM_000214.3(JAG1):c.120G>C (p.Leu40=) rs1000010346
NM_000214.3(JAG1):c.1211G>A (p.Trp404Ter)
NM_000214.3(JAG1):c.1216G>A (p.Gly406Arg) rs2067336534
NM_000214.3(JAG1):c.1218_1219insGA (p.Lys407fs) rs886044604
NM_000214.3(JAG1):c.1224G>T (p.Thr408=) rs771839716
NM_000214.3(JAG1):c.1228C>T (p.Gln410Ter) rs2122611488
NM_000214.3(JAG1):c.1230G>A (p.Gln410=)
NM_000214.3(JAG1):c.1232T>A (p.Leu411Ter) rs2067336398
NM_000214.3(JAG1):c.1234+21_1234+22del rs778949148
NM_000214.3(JAG1):c.1234+3A>G
NM_000214.3(JAG1):c.1236T>A (p.Asp412Glu) rs1568796947
NM_000214.3(JAG1):c.1238C>T (p.Ala413Val)
NM_000214.3(JAG1):c.123C>T (p.Ser41=) rs761894056
NM_000214.3(JAG1):c.123del (p.Met42fs)
NM_000214.3(JAG1):c.1249G>A (p.Glu417Lys)
NM_000214.3(JAG1):c.1251G>A (p.Glu417=)
NM_000214.3(JAG1):c.1254C>T (p.Ala418=)
NM_000214.3(JAG1):c.1258C>A (p.Pro420Thr)
NM_000214.3(JAG1):c.1263T>A (p.Cys421Ter)
NM_000214.3(JAG1):c.1263T>C (p.Cys421=)
NM_000214.3(JAG1):c.1264G>A (p.Val422Ile)
NM_000214.3(JAG1):c.1266A>T (p.Val422=)
NM_000214.3(JAG1):c.1269C>A (p.Asn423Lys)
NM_000214.3(JAG1):c.1269C>T (p.Asn423=)
NM_000214.3(JAG1):c.1274A>G (p.Lys425Arg)
NM_000214.3(JAG1):c.1277C>T (p.Ser426Phe)
NM_000214.3(JAG1):c.1283A>G (p.Lys428Arg)
NM_000214.3(JAG1):c.1290C>T (p.Leu430=)
NM_000214.3(JAG1):c.1295C>G (p.Ala432Gly)
NM_000214.3(JAG1):c.1297A>G (p.Ser433Gly)
NM_000214.3(JAG1):c.1302C>T (p.Tyr434=)
NM_000214.3(JAG1):c.1303_1304dup (p.Cys436fs)
NM_000214.3(JAG1):c.1306T>C (p.Cys436Arg) rs2122610484
NM_000214.3(JAG1):c.1307G>A (p.Cys436Tyr) rs1568796900
NM_000214.3(JAG1):c.1308C>A (p.Cys436Ter) rs764485729
NM_000214.3(JAG1):c.1308_1325del (p.Cys436_Gly441del) rs2067332008
NM_000214.3(JAG1):c.1309G>C (p.Asp437His) rs758876727
NM_000214.3(JAG1):c.1312dup (p.Cys438fs) rs2122610459
NM_000214.3(JAG1):c.1313G>A (p.Cys438Tyr) rs1600184363
NM_000214.3(JAG1):c.1318C>T (p.Pro440Ser) rs1187579730
NM_000214.3(JAG1):c.1320C>T (p.Pro440=)
NM_000214.3(JAG1):c.1322G>A (p.Gly441Asp) rs2067332021
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.1326G>T (p.Trp442Cys) rs794726974
NM_000214.3(JAG1):c.1330G>A (p.Gly444Ser)
NM_000214.3(JAG1):c.1330G>C (p.Gly444Arg)
NM_000214.3(JAG1):c.1338T>C (p.Asn446=)
NM_000214.3(JAG1):c.1339T>C (p.Cys447Arg) rs863223651
NM_000214.3(JAG1):c.133G>A (p.Val45Met)
NM_000214.3(JAG1):c.1345A>G (p.Ile449Val) rs2122610344
NM_000214.3(JAG1):c.1346_1347del (p.Ile449fs) rs1555828770
NM_000214.3(JAG1):c.1349-16C>G rs1057523387
NM_000214.3(JAG1):c.1349-173_1483del
NM_000214.3(JAG1):c.1349-18G>A
NM_000214.3(JAG1):c.1349-19_1349-17del rs756384545
NM_000214.3(JAG1):c.1349-59A>C rs184110582
NM_000214.3(JAG1):c.1349-8dup rs767319365
NM_000214.3(JAG1):c.1349-9_1349-6del rs764798214
NM_000214.3(JAG1):c.134_154del (p.Val45_Asn51del) rs1345611817
NM_000214.3(JAG1):c.1352T>A (p.Ile451Asn) rs1178459436
NM_000214.3(JAG1):c.1353dup (p.Asn452Ter) rs1060501347
NM_000214.3(JAG1):c.1357G>A (p.Asp453Asn)
NM_000214.3(JAG1):c.135G>T (p.Val45=)
NM_000214.3(JAG1):c.1362C>A (p.Cys454Ter)
NM_000214.3(JAG1):c.1363del (p.Gly456fs) rs2122609680
NM_000214.3(JAG1):c.1368C>T (p.Gly456=)
NM_000214.3(JAG1):c.1369C>T (p.Gln457Ter) rs863223652
NM_000214.3(JAG1):c.1370A>G (p.Gln457Arg)
NM_000214.3(JAG1):c.1372T>C (p.Cys458Arg)
NM_000214.3(JAG1):c.1375C>A (p.Gln459Lys) rs1289016419
NM_000214.3(JAG1):c.1375C>T (p.Gln459Ter) rs1289016419
NM_000214.3(JAG1):c.1377_1378del (p.Gln459_Asn460insTer) rs2067328461
NM_000214.3(JAG1):c.1386C>T (p.Ala462=)
NM_000214.3(JAG1):c.1388C>T (p.Ser463Phe)
NM_000214.3(JAG1):c.1392T>C (p.Cys464=)
NM_000214.3(JAG1):c.1393C>T (p.Arg465Trp) rs937263997
NM_000214.3(JAG1):c.1395+17T>C rs1427080762
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.1395+81T>G rs2122609482
NM_000214.3(JAG1):c.1395+8A>T
NM_000214.3(JAG1):c.1395+9del rs756967745
NM_000214.3(JAG1):c.1396-10C>T rs2122609048
NM_000214.3(JAG1):c.1396-16C>T rs374325017
NM_000214.3(JAG1):c.1396-1G>A
NM_000214.3(JAG1):c.1396-27TC[4] rs544547916
NM_000214.3(JAG1):c.1396-27TC[6] rs544547916
NM_000214.3(JAG1):c.1396-2A>G rs1568796298
NM_000214.3(JAG1):c.1396-3T>C
NM_000214.3(JAG1):c.1396-5dup
NM_000214.3(JAG1):c.1396-82C>T rs45498692
NM_000214.3(JAG1):c.1396-9C>G rs780478823
NM_000214.3(JAG1):c.1396-9C>T
NM_000214.3(JAG1):c.1396-9_1396-7del rs759287559
NM_000214.3(JAG1):c.139G>C (p.Gly47Arg)
NM_000214.3(JAG1):c.139_159del (p.Gly47_Asn53del) rs754284753
NM_000214.3(JAG1):c.1407T>C (p.Asn469=) rs141725884
NM_000214.3(JAG1):c.1414C>T (p.Arg472Cys)
NM_000214.3(JAG1):c.1424dup (p.Cys475fs)
NM_000214.3(JAG1):c.1426C>A (p.Pro476Thr)
NM_000214.3(JAG1):c.1427C>T (p.Pro476Leu)
NM_000214.3(JAG1):c.142G>A (p.Glu48Lys)
NM_000214.3(JAG1):c.142G>T (p.Glu48Ter) rs1600196580
NM_000214.3(JAG1):c.1430C>T (p.Pro477Leu) rs1555828655
NM_000214.3(JAG1):c.1434C>T (p.Gly478=) rs2122608947
NM_000214.3(JAG1):c.1437T>G (p.Tyr479Ter)
NM_000214.3(JAG1):c.1438G>T (p.Ala480Ser)
NM_000214.3(JAG1):c.1446T>C (p.Asp482=) rs2122608906
NM_000214.3(JAG1):c.1446_1448delinsC (p.His483fs) rs1568796241
NM_000214.3(JAG1):c.1448_1449del (p.His483fs) rs2122608890
NM_000214.3(JAG1):c.1452_1453del (p.Cys484_Glu485delinsTer) rs1568796236
NM_000214.3(JAG1):c.1459_1460del (p.Asp487fs)
NM_000214.3(JAG1):c.1459_1460insGA (p.Asp487fs) rs1555828652
NM_000214.3(JAG1):c.1461C>T (p.Asp487=)
NM_000214.3(JAG1):c.1465G>A (p.Asp489Asn) rs370107709
NM_000214.3(JAG1):c.1470_1472dup (p.Cys491Ter)
NM_000214.3(JAG1):c.1473_1474del (p.Ala492fs)
NM_000214.3(JAG1):c.1482C>T (p.Asn494=)
NM_000214.3(JAG1):c.1485_1486del (p.Cys496fs) rs876660981
NM_000214.3(JAG1):c.1485del (p.Cys496fs) rs2122608799
NM_000214.3(JAG1):c.1489_1490dup (p.Leu497fs) rs2122608790
NM_000214.3(JAG1):c.148C>T (p.Gln50Ter) rs886039539
NM_000214.3(JAG1):c.1492_1495del (p.Asn498fs) rs1555828646
NM_000214.3(JAG1):c.1499dup (p.His501fs)
NM_000214.3(JAG1):c.1509_1510del (p.Gln503_Asn504insTer) rs886039696
NM_000214.3(JAG1):c.1517T>G (p.Ile506Ser)
NM_000214.3(JAG1):c.151A>G (p.Asn51Asp)
NM_000214.3(JAG1):c.1521C>G (p.Asn507Lys) rs2067324770
NM_000214.3(JAG1):c.1522dup (p.Arg508fs) rs1555828640
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.153C>T (p.Asn51=) rs2067507683
NM_000214.3(JAG1):c.1540C>G (p.Pro514Ala)
NM_000214.3(JAG1):c.1551C>T (p.Phe517=)
NM_000214.3(JAG1):c.1556G>C (p.Gly519Ala) rs747241413
NM_000214.3(JAG1):c.1563_1564del (p.Cys522fs) rs2067324506
NM_000214.3(JAG1):c.1564T>C (p.Cys522Arg)
NM_000214.3(JAG1):c.1566T>A (p.Cys522Ter)
NM_000214.3(JAG1):c.1569+12C>A
NM_000214.3(JAG1):c.1569+17C>T rs2122608633
NM_000214.3(JAG1):c.1569+1G>A
NM_000214.3(JAG1):c.1569+68T>G rs34325313
NM_000214.3(JAG1):c.1570-17G>T
NM_000214.3(JAG1):c.1570-3C>A
NM_000214.3(JAG1):c.1570-73C>G rs56039205
NM_000214.3(JAG1):c.1570-7T>C
NM_000214.3(JAG1):c.1570C>T (p.Leu524=) rs774864063
NM_000214.3(JAG1):c.1579G>A (p.Asp527Asn)
NM_000214.3(JAG1):c.1579G>T (p.Asp527Tyr)
NM_000214.3(JAG1):c.1582T>G (p.Tyr528Asp) rs2122607889
NM_000214.3(JAG1):c.1591C>A (p.Pro531Thr)
NM_000214.3(JAG1):c.1596T>C (p.Asn532=)
NM_000214.3(JAG1):c.1601del (p.Cys534fs) rs2067321711
NM_000214.3(JAG1):c.1603C>T (p.Gln535Ter)
NM_000214.3(JAG1):c.1606A>C (p.Asn536His)
NM_000214.3(JAG1):c.1608C>G (p.Asn536Lys)
NM_000214.3(JAG1):c.1613C>T (p.Ala538Val) rs2067321488
NM_000214.3(JAG1):c.1615C>T (p.Gln539Ter) rs1555828577
NM_000214.3(JAG1):c.1616A>G (p.Gln539Arg)
NM_000214.3(JAG1):c.1627del (p.Arg543fs)
NM_000214.3(JAG1):c.1653C>A (p.Cys551Ter) rs2122607772
NM_000214.3(JAG1):c.1654C>G (p.Pro552Ala)
NM_000214.3(JAG1):c.1654C>T (p.Pro552Ser)
NM_000214.3(JAG1):c.1656C>T (p.Pro552=)
NM_000214.3(JAG1):c.1656del (p.Glu553fs) rs1568795820
NM_000214.3(JAG1):c.1657G>A (p.Glu553Lys)
NM_000214.3(JAG1):c.1657G>T (p.Glu553Ter) rs759763539
NM_000214.3(JAG1):c.1657del (p.Glu553fs)
NM_000214.3(JAG1):c.165C>A (p.Cys55Ter)
NM_000214.3(JAG1):c.165C>T (p.Cys55=) rs746259131
NM_000214.3(JAG1):c.1664A>G (p.Tyr555Cys)
NM_000214.3(JAG1):c.1666G>T (p.Glu556Ter) rs2122607723
NM_000214.3(JAG1):c.1680C>A (p.Cys560Ter) rs886041868
NM_000214.3(JAG1):c.1687del (p.His562_Leu563insTer) rs2122607689
NM_000214.3(JAG1):c.1689G>A (p.Leu563=) rs930662596
NM_000214.3(JAG1):c.1693G>A (p.Asp565Asn)
NM_000214.3(JAG1):c.1696C>G (p.His566Asp) rs927278875
NM_000214.3(JAG1):c.1706C>G (p.Thr569Arg)
NM_000214.3(JAG1):c.1709C>T (p.Thr570Ile)
NM_000214.3(JAG1):c.1712C>A (p.Pro571His)
NM_000214.3(JAG1):c.1713del (p.Cys572fs)
NM_000214.3(JAG1):c.1713dup (p.Cys572fs) rs1555828546
NM_000214.3(JAG1):c.1714T>C (p.Cys572Arg)
NM_000214.3(JAG1):c.1716_1717del (p.Cys572_Glu573delinsTer) rs876661126
NM_000214.3(JAG1):c.171C>A (p.Gly57=)
NM_000214.3(JAG1):c.1720+14C>T rs556199100
NM_000214.3(JAG1):c.1720+15C>G
NM_000214.3(JAG1):c.1720+16dup rs774418829
NM_000214.3(JAG1):c.1720+172G>T rs143716483
NM_000214.3(JAG1):c.1720+1G>C rs2122607604
NM_000214.3(JAG1):c.1720+1del rs886044349
NM_000214.3(JAG1):c.1720+3A>G rs1555828541
NM_000214.3(JAG1):c.1720G>C (p.Val574Leu) rs2067320699
NM_000214.3(JAG1):c.1720G>T (p.Val574Leu) rs2067320699
NM_000214.3(JAG1):c.1721-17C>T
NM_000214.3(JAG1):c.1721-18C>G rs754636635
NM_000214.3(JAG1):c.1721-18C>T
NM_000214.3(JAG1):c.1721-19T>C
NM_000214.3(JAG1):c.1721-223TG[2] rs3830831
NM_000214.3(JAG1):c.1721-2A>T
NM_000214.3(JAG1):c.1724T>C (p.Ile575Thr) rs2067314756
NM_000214.3(JAG1):c.1728C>T (p.Asp576=) rs756487397
NM_000214.3(JAG1):c.172dup (p.Ala58fs)
NM_000214.3(JAG1):c.1731C>G (p.Ser577Arg) rs2122606362
NM_000214.3(JAG1):c.1737A>G (p.Thr579=)
NM_000214.3(JAG1):c.1739T>A (p.Val580Glu)
NM_000214.3(JAG1):c.173_176del (p.Ala58fs) rs886043130
NM_000214.3(JAG1):c.1744A>G (p.Met582Val) rs2067314648
NM_000214.3(JAG1):c.1747G>A (p.Ala583Thr)
NM_000214.3(JAG1):c.1748C>T (p.Ala583Val) rs1568795311
NM_000214.3(JAG1):c.174C>G (p.Ala58=)
NM_000214.3(JAG1):c.174C>T (p.Ala58=)
NM_000214.3(JAG1):c.1754_1755del (p.Asn585fs)
NM_000214.3(JAG1):c.1755C>G (p.Asn585Lys) rs142808131
NM_000214.3(JAG1):c.175C>T (p.Arg59Trp)
NM_000214.3(JAG1):c.1762C>T (p.Pro588Ser) rs1321273663
NM_000214.3(JAG1):c.1764T>G (p.Pro588=)
NM_000214.3(JAG1):c.1764dup (p.Glu589Ter)
NM_000214.3(JAG1):c.1779T>A (p.Tyr593Ter) rs2122606277
NM_000214.3(JAG1):c.1780A>T (p.Ile594Phe) rs897891027
NM_000214.3(JAG1):c.1782T>C (p.Ile594=)
NM_000214.3(JAG1):c.1785C>T (p.Ser595=)
NM_000214.3(JAG1):c.1794C>G (p.Val598=) rs200580391
NM_000214.3(JAG1):c.1801C>T (p.Pro601Ser)
NM_000214.3(JAG1):c.1806C>G (p.His602Gln)
NM_000214.3(JAG1):c.1822C>T (p.Gln608Ter)
NM_000214.3(JAG1):c.1823_1826del (p.Gln608fs) rs2122606213
NM_000214.3(JAG1):c.1827G>C (p.Ser609=) rs779802470
NM_000214.3(JAG1):c.1827G>T (p.Ser609=)
NM_000214.3(JAG1):c.1829del (p.Gly610fs) rs2122606192
NM_000214.3(JAG1):c.182C>T (p.Pro61Leu)
NM_000214.3(JAG1):c.1832G>T (p.Gly611Val) rs2122606183
NM_000214.3(JAG1):c.1839C>T (p.Phe613=)
NM_000214.3(JAG1):c.183G>C (p.Pro61=)
NM_000214.3(JAG1):c.1845T>C (p.Cys615=)
NM_000214.3(JAG1):c.184G>C (p.Gly62Arg)
NM_000214.3(JAG1):c.1856A>G (p.Lys619Arg) rs1009426924
NM_000214.3(JAG1):c.1856_1857del (p.Lys619fs) rs1600182812
NM_000214.3(JAG1):c.1859G>T (p.Gly620Val) rs752105789
NM_000214.3(JAG1):c.1866G>C (p.Thr622=) rs140624746
NM_000214.3(JAG1):c.1868dup (p.Thr624fs) rs2122606128
NM_000214.3(JAG1):c.1871delinsGA (p.Thr624fs)
NM_000214.3(JAG1):c.1872A>G (p.Thr624=)
NM_000214.3(JAG1):c.1872A>T (p.Thr624=)
NM_000214.3(JAG1):c.1878C>A (p.Cys626Ter) rs2122606113
NM_000214.3(JAG1):c.1881T>C (p.His627=) rs2067313363
NM_000214.3(JAG1):c.1885+9C>G rs2122606086
NM_000214.3(JAG1):c.1886-18C>T
NM_000214.3(JAG1):c.1886-4A>G
NM_000214.3(JAG1):c.1886-9G>A
NM_000214.3(JAG1):c.1887T>C (p.Asn629=)
NM_000214.3(JAG1):c.1890del (p.Asn631fs)
NM_000214.3(JAG1):c.1896C>T (p.Asp632=)
NM_000214.3(JAG1):c.1898G>A (p.Cys633Tyr)
NM_000214.3(JAG1):c.1899_1900del (p.Cys633_Glu634delinsTer) rs1555828321
NM_000214.3(JAG1):c.18G>A (p.Thr6=) rs576539291
NM_000214.3(JAG1):c.18G>C (p.Thr6=)
NM_000214.3(JAG1):c.190C>T (p.Arg64Cys)
NM_000214.3(JAG1):c.190del (p.Arg64fs)
NM_000214.3(JAG1):c.1914T>G (p.Cys638Trp) rs1261301855
NM_000214.3(JAG1):c.1915A>G (p.Arg639Gly)
NM_000214.3(JAG1):c.1916G>A (p.Arg639Lys)
NM_000214.3(JAG1):c.191_192delinsAG (p.Arg64Gln) rs2122644702
NM_000214.3(JAG1):c.1921G>A (p.Gly641Ser)
NM_000214.3(JAG1):c.192C>A (p.Arg64=)
NM_000214.3(JAG1):c.192dup (p.Lys65fs) rs863223666
NM_000214.3(JAG1):c.1936G>A (p.Asp646Asn)
NM_000214.3(JAG1):c.1946A>G (p.Asn649Ser)
NM_000214.3(JAG1):c.1946_1951delinsCTCC (p.Asn649fs) rs863223682
NM_000214.3(JAG1):c.1948T>C (p.Ser650Pro) rs2122604480
NM_000214.3(JAG1):c.194A>G (p.Lys65Arg)
NM_000214.3(JAG1):c.1951T>C (p.Tyr651His)
NM_000214.3(JAG1):c.1952A>T (p.Tyr651Phe) rs754081691
NM_000214.3(JAG1):c.1953C>A (p.Tyr651Ter)
NM_000214.3(JAG1):c.1955dup (p.Cys653fs) rs2122604461
NM_000214.3(JAG1):c.1961del (p.Ile654fs)
NM_000214.3(JAG1):c.1963T>C (p.Cys655Arg)
NM_000214.3(JAG1):c.1977G>A (p.Trp659Ter) rs1600182107
NM_000214.3(JAG1):c.197G>A (p.Cys66Tyr) rs767480908
NM_000214.3(JAG1):c.1984G>C (p.Ala662Pro) rs763048289
NM_000214.3(JAG1):c.1984del (p.Ala662fs)
NM_000214.3(JAG1):c.1997C>T (p.Thr666Ile) rs2122604394
NM_000214.3(JAG1):c.1998C>T (p.Thr666=)
NM_000214.3(JAG1):c.1999+17_1999+18del
NM_000214.3(JAG1):c.1999+20G>A
NM_000214.3(JAG1):c.199A>G (p.Thr67Ala)
NM_000214.3(JAG1):c.2000-11T>C rs2122603558
NM_000214.3(JAG1):c.2000-13C>G rs769050919
NM_000214.3(JAG1):c.2000-17C>T rs2122603589
NM_000214.3(JAG1):c.2000-190_2000-188dup rs55752058
NM_000214.3(JAG1):c.2005A>G (p.Asn669Asp)
NM_000214.3(JAG1):c.2006del (p.Asn669fs)
NM_000214.3(JAG1):c.200C>G (p.Thr67Ser)
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.2024C>T (p.Pro675Leu)
NM_000214.3(JAG1):c.2026del (p.Cys676fs)
NM_000214.3(JAG1):c.202C>T (p.Arg68Cys)
NM_000214.3(JAG1):c.2030A>C (p.His677Pro)
NM_000214.3(JAG1):c.2039dup (p.Thr681fs) rs1555828250
NM_000214.3(JAG1):c.203dup (p.Asp69fs) rs1568807044
NM_000214.3(JAG1):c.2045G>A (p.Cys682Tyr) rs876661229
NM_000214.3(JAG1):c.2050G>A (p.Asp684Asn) rs933125751
NM_000214.3(JAG1):c.2051A>G (p.Asp684Gly)
NM_000214.3(JAG1):c.2064C>G (p.Asp688Glu) rs2122603442
NM_000214.3(JAG1):c.2065T>C (p.Phe689Leu)
NM_000214.3(JAG1):c.2072G>A (p.Cys691Tyr) rs1555828246
NM_000214.3(JAG1):c.2076C>A (p.Asp692Glu) rs2067301920
NM_000214.3(JAG1):c.2077T>C (p.Cys693Arg) rs1568794319
NM_000214.3(JAG1):c.2078G>A (p.Cys693Tyr) rs566563238
NM_000214.3(JAG1):c.2078G>C (p.Cys693Ser)
NM_000214.3(JAG1):c.2078_2079del (p.Asp692_Cys693insTer) rs2067301859
NM_000214.3(JAG1):c.2080A>T (p.Lys694Ter) rs876661142
NM_000214.3(JAG1):c.2085_2101del (p.Gly696fs)
NM_000214.3(JAG1):c.2087G>C (p.Gly696Ala) rs780243244
NM_000214.3(JAG1):c.2088G>A (p.Gly696=)
NM_000214.3(JAG1):c.2092_2093insG (p.Lys698fs) rs1600181733
NM_000214.3(JAG1):c.2096_2100del (p.Gly699fs) rs886039393
NM_000214.3(JAG1):c.2097A>G (p.Gly699=)
NM_000214.3(JAG1):c.20G>A (p.Arg7His)
NM_000214.3(JAG1):c.2101A>C (p.Thr701Pro) rs79176844
NM_000214.3(JAG1):c.2106C>A (p.Cys702Ter) rs863223680
NM_000214.3(JAG1):c.2113+16C>A
NM_000214.3(JAG1):c.2113+16C>T rs2067301201
NM_000214.3(JAG1):c.2113+1G>T rs1294950721
NM_000214.3(JAG1):c.2113+5G>A rs886044704
NM_000214.3(JAG1):c.2113+5G>C rs886044704
NM_000214.3(JAG1):c.2113del (p.Arg705fs)
NM_000214.3(JAG1):c.2114-18T>G rs766999933
NM_000214.3(JAG1):c.2114-2A>C
NM_000214.3(JAG1):c.2114-4C>T
NM_000214.3(JAG1):c.2114-5_2119delinsACACACCACCTGCACGTG rs2122603096
NM_000214.3(JAG1):c.2115T>C (p.Arg705=) rs2122603103
NM_000214.3(JAG1):c.2118_2119del (p.Asp706fs) rs1568794159
NM_000214.3(JAG1):c.2120G>A (p.Ser707Asn) rs2122603091
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.2123A>C (p.Gln708Pro)
NM_000214.3(JAG1):c.2123_2124del (p.Gln708fs) rs2122603085
NM_000214.3(JAG1):c.2129dup (p.Asp710fs) rs2067300184
NM_000214.3(JAG1):c.2132A>T (p.Glu711Val)
NM_000214.3(JAG1):c.2136C>A (p.Ala712=)
NM_000214.3(JAG1):c.2136C>T (p.Ala712=)
NM_000214.3(JAG1):c.213_214delinsC (p.Asp72fs)
NM_000214.3(JAG1):c.2140T>C (p.Cys714Arg)
NM_000214.3(JAG1):c.2141G>A (p.Cys714Tyr) rs2067300040
NM_000214.3(JAG1):c.2143A>C (p.Asn715His)
NM_000214.3(JAG1):c.2150G>C (p.Gly717Ala) rs200473477
NM_000214.3(JAG1):c.2157C>A (p.Thr719=) rs2122602999
NM_000214.3(JAG1):c.2161T>A (p.Tyr721Asn)
NM_000214.3(JAG1):c.2163T>C (p.Tyr721=) rs2122602994
NM_000214.3(JAG1):c.2169G>A (p.Glu723=)
NM_000214.3(JAG1):c.216C>T (p.Asp72=)
NM_000214.3(JAG1):c.2170G>A (p.Gly724Arg) rs2067299833
NM_000214.3(JAG1):c.2172_2173dup (p.Asp725fs) rs1568794128
NM_000214.3(JAG1):c.2173G>T (p.Asp725Tyr) rs2122602965
NM_000214.3(JAG1):c.2173dup (p.Asp725fs) rs1568794128
NM_000214.3(JAG1):c.2174A>G (p.Asp725Gly)
NM_000214.3(JAG1):c.217dup (p.Thr73fs)
NM_000214.3(JAG1):c.2188A>G (p.Met730Val)
NM_000214.3(JAG1):c.2198G>C (p.Gly733Ala)
NM_000214.3(JAG1):c.219A>G (p.Thr73=)
NM_000214.3(JAG1):c.2201G>A (p.Gly734Asp) rs2122602901
NM_000214.3(JAG1):c.2209G>T (p.Gly737Ter) rs2122602893
NM_000214.3(JAG1):c.2210del (p.Gly737fs)
NM_000214.3(JAG1):c.2217C>T (p.Thr739=)
NM_000214.3(JAG1):c.2225_2226del (p.Ile742fs) rs1555828209
NM_000214.3(JAG1):c.2227+14C>A rs936598165
NM_000214.3(JAG1):c.2227+50G>C rs540429229
NM_000214.3(JAG1):c.2228-12C>T
NM_000214.3(JAG1):c.2228-13T>C
NM_000214.3(JAG1):c.2228-13T>G rs1163165774
NM_000214.3(JAG1):c.2228-18T>C
NM_000214.3(JAG1):c.2228-3T>G
NM_000214.3(JAG1):c.2228-6T>C
NM_000214.3(JAG1):c.222C>T (p.Tyr74=) rs1600196465
NM_000214.3(JAG1):c.2230C>T (p.Arg744Ter) rs863223655
NM_000214.3(JAG1):c.2237G>A (p.Ser746Asn) rs2122602515
NM_000214.3(JAG1):c.2242T>C (p.Cys748Arg) rs2122602509
NM_000214.3(JAG1):c.2247G>C (p.Leu749=)
NM_000214.3(JAG1):c.2247G>T (p.Leu749=) rs982976067
NM_000214.3(JAG1):c.224T>C (p.Phe75Ser) rs2122644646
NM_000214.3(JAG1):c.2254C>G (p.Pro752Ala)
NM_000214.3(JAG1):c.2257dup (p.Cys753fs) rs863223672
NM_000214.3(JAG1):c.2258G>T (p.Cys753Phe) rs2122602473
NM_000214.3(JAG1):c.225C>A (p.Phe75Leu) rs1600196460
NM_000214.3(JAG1):c.2264A>G (p.Asn755Ser) rs2122602452
NM_000214.3(JAG1):c.2268_2270del (p.Gly757del)
NM_000214.3(JAG1):c.2270G>A (p.Gly757Asp)
NM_000214.3(JAG1):c.2270del (p.Gly757fs)
NM_000214.3(JAG1):c.2270dup (p.Thr758fs) rs886043605
NM_000214.3(JAG1):c.2274_2275del (p.Val760fs)
NM_000214.3(JAG1):c.2278del (p.Val760fs) rs2067297301
NM_000214.3(JAG1):c.2280G>T (p.Val760=)
NM_000214.3(JAG1):c.2283C>T (p.Val761=)
NM_000214.3(JAG1):c.228del (p.Val77fs) rs2067506937
NM_000214.3(JAG1):c.2290G>A (p.Glu764Lys)
NM_000214.3(JAG1):c.2295C>G (p.Ser765=)
NM_000214.3(JAG1):c.2300C>A (p.Thr767Lys)
NM_000214.3(JAG1):c.2300C>G (p.Thr767Arg)
NM_000214.3(JAG1):c.2304C>A (p.Cys768Ter) rs755427292
NM_000214.3(JAG1):c.2310C>A (p.Cys770Ter) rs886043904
NM_000214.3(JAG1):c.2312A>C (p.Lys771Thr) rs149949294
NM_000214.3(JAG1):c.2318del (p.Gly773fs) rs2122602312
NM_000214.3(JAG1):c.2319C>T (p.Gly773=) rs2122602306
NM_000214.3(JAG1):c.2322G>A (p.Trp774Ter) rs1555828173
NM_000214.3(JAG1):c.2323del (p.Glu775fs) rs2067296758
NM_000214.3(JAG1):c.2329C>A (p.Pro777Thr)
NM_000214.3(JAG1):c.232T>C (p.Cys78Arg) rs1600196455
NM_000214.3(JAG1):c.232T>G (p.Cys78Gly) rs1600196455
NM_000214.3(JAG1):c.2334C>T (p.Ile778=) rs1270085831
NM_000214.3(JAG1):c.233G>A (p.Cys78Tyr) rs1555830957
NM_000214.3(JAG1):c.233G>C (p.Cys78Ser) rs1555830957
NM_000214.3(JAG1):c.2341C>T (p.Gln781Ter)
NM_000214.3(JAG1):c.2342dup (p.Asn782fs) rs886039887
NM_000214.3(JAG1):c.2344+15C>A
NM_000214.3(JAG1):c.2344+15C>T rs200139177
NM_000214.3(JAG1):c.2344+16C>A rs566576965
NM_000214.3(JAG1):c.2344+16C>G rs566576965
NM_000214.3(JAG1):c.2344+16C>T
NM_000214.3(JAG1):c.2344+17del rs774508190
NM_000214.3(JAG1):c.2344+6T>C
NM_000214.3(JAG1):c.2344+7G>A
NM_000214.3(JAG1):c.2344+9C>G
NM_000214.3(JAG1):c.2344A>G (p.Asn782Asp)
NM_000214.3(JAG1):c.2345-13C>T
NM_000214.3(JAG1):c.2345-14T>G
NM_000214.3(JAG1):c.2345-18_2345-17delinsAA rs2122601613
NM_000214.3(JAG1):c.2345-1G>A rs1568793670
NM_000214.3(JAG1):c.2345-8_2345-6del rs1396652277
NM_000214.3(JAG1):c.2346T>C (p.Asn782=)
NM_000214.3(JAG1):c.2349C>A (p.Thr783=)
NM_000214.3(JAG1):c.2358C>A (p.Cys786Ter) rs1189479619
NM_000214.3(JAG1):c.2358C>T (p.Cys786=) rs1189479619
NM_000214.3(JAG1):c.235C>T (p.Leu79Phe)
NM_000214.3(JAG1):c.236_251del (p.Leu79fs) rs1600196426
NM_000214.3(JAG1):c.2370del (p.Cys791fs) rs886042050
NM_000214.3(JAG1):c.2372+13T>C
NM_000214.3(JAG1):c.2372+15C>A
NM_000214.3(JAG1):c.2372+15C>T rs748962378
NM_000214.3(JAG1):c.2372+1G>T rs2067293664
NM_000214.3(JAG1):c.2372+3_2372+6del rs2067293629
NM_000214.3(JAG1):c.2372+43TG[17] rs33967297
NM_000214.3(JAG1):c.2372+43TG[18] rs33967297
NM_000214.3(JAG1):c.2372+43TG[20] rs33967297
NM_000214.3(JAG1):c.2372+43TG[21] rs33967297
NM_000214.3(JAG1):c.2372+77T>A rs755034660
NM_000214.3(JAG1):c.2372+7G>A
NM_000214.3(JAG1):c.2372+80GA[3] rs113910163
NM_000214.3(JAG1):c.2372+80_2372+81insGTGTGA rs1555828066
NM_000214.3(JAG1):c.2372+80_2372+81insGTGTGTGA rs1555828066
NM_000214.3(JAG1):c.2382C>A (p.Ser794Arg) rs56225585
NM_000214.3(JAG1):c.2385del (p.Thr796fs) rs1568793309
NM_000214.3(JAG1):c.2388C>T (p.Thr796=)
NM_000214.3(JAG1):c.238A>T (p.Lys80Ter) rs1600196443
NM_000214.3(JAG1):c.2394G>A (p.Val798=)
NM_000214.3(JAG1):c.23G>A (p.Gly8Asp) rs993238320
NM_000214.3(JAG1):c.2406del (p.Trp803fs)
NM_000214.3(JAG1):c.2412C>A (p.Tyr804Ter) rs2122600550
NM_000214.3(JAG1):c.2412C>T (p.Tyr804=) rs2122600550
NM_000214.3(JAG1):c.2415G>C (p.Arg805=)
NM_000214.3(JAG1):c.2415del (p.Cys806fs)
NM_000214.3(JAG1):c.2418C>A (p.Cys806Ter) rs533306015
NM_000214.3(JAG1):c.2418C>T (p.Cys806=)
NM_000214.3(JAG1):c.2418del (p.Cys806fs) rs876661165
NM_000214.3(JAG1):c.2424T>A (p.Cys808Ter) rs1568793265
NM_000214.3(JAG1):c.2430G>A (p.Pro810=)
NM_000214.3(JAG1):c.2433T>G (p.Gly811=)
NM_000214.3(JAG1):c.243G>C (p.Glu81Asp) rs2067506800
NM_000214.3(JAG1):c.2442G>A (p.Gly814=)
NM_000214.3(JAG1):c.2446G>A (p.Asp816Asn)
NM_000214.3(JAG1):c.2447A>T (p.Asp816Val)
NM_000214.3(JAG1):c.2458+10G>C rs778204780
NM_000214.3(JAG1):c.2458+124G>T rs2122600197
NM_000214.3(JAG1):c.2458+16G>A rs772170740
NM_000214.3(JAG1):c.2458+16G>T
NM_000214.3(JAG1):c.2458+18C>G rs2122600384
NM_000214.3(JAG1):c.2458+1G>A rs2122600431
NM_000214.3(JAG1):c.2458+2T>G rs2122600427
NM_000214.3(JAG1):c.2458+2_2458+4del
NM_000214.3(JAG1):c.2458+2_2458+5del rs1568793232
NM_000214.3(JAG1):c.2458+4A>C rs2122600423
NM_000214.3(JAG1):c.2459-10T>C
NM_000214.3(JAG1):c.2459-12C>T
NM_000214.3(JAG1):c.2459-15del
NM_000214.3(JAG1):c.2459-2A>G
NM_000214.3(JAG1):c.2459-89T>G rs2122598806
NM_000214.3(JAG1):c.245A>G (p.Tyr82Cys)
NM_000214.3(JAG1):c.2465del (p.Asn822fs) rs863223673
NM_000214.3(JAG1):c.2473C>T (p.Gln825Ter) rs1437309558
NM_000214.3(JAG1):c.2489C>T (p.Ala830Val)
NM_000214.3(JAG1):c.2493dup (p.Gly832fs)
NM_000214.3(JAG1):c.2505T>A (p.Cys835Ter)
NM_000214.3(JAG1):c.2507_2508del (p.Val836fs) rs1600179892
NM_000214.3(JAG1):c.2510A>T (p.Asp837Val)
NM_000214.3(JAG1):c.2511T>G (p.Asp837Glu)
NM_000214.3(JAG1):c.2515A>T (p.Ile839Phe)
NM_000214.3(JAG1):c.2522G>A (p.Gly841Asp) rs1568792702
NM_000214.3(JAG1):c.2529G>T (p.Arg843=)
NM_000214.3(JAG1):c.2530_2552delinsGCACAT (p.Cys844fs) rs1600179847
NM_000214.3(JAG1):c.2532T>A (p.Cys844Ter) rs1600179855
NM_000214.3(JAG1):c.2538C>A (p.Cys846Ter)
NM_000214.3(JAG1):c.2538C>T (p.Cys846=) rs2122598522
NM_000214.3(JAG1):c.2539C>A (p.Pro847Thr)
NM_000214.3(JAG1):c.253C>T (p.Arg85Cys) rs2122644586
NM_000214.3(JAG1):c.2555G>T (p.Gly852Val)
NM_000214.3(JAG1):c.2557G>A (p.Ala853Thr)
NM_000214.3(JAG1):c.2557G>T (p.Ala853Ser) rs967515336
NM_000214.3(JAG1):c.255C>T (p.Arg85=)
NM_000214.3(JAG1):c.2565C>T (p.Cys855=) rs1230847690
NM_000214.3(JAG1):c.2566C>T (p.Gln856Ter) rs876661061
NM_000214.3(JAG1):c.2569G>A (p.Glu857Lys)
NM_000214.3(JAG1):c.2572+14G>T rs1314044373
NM_000214.3(JAG1):c.2572+17T>C
NM_000214.3(JAG1):c.2572+1G>C
NM_000214.3(JAG1):c.2572+1G>T
NM_000214.3(JAG1):c.2572+4T>C
NM_000214.3(JAG1):c.2572+9G>T
NM_000214.3(JAG1):c.2573-16_2573-7del
NM_000214.3(JAG1):c.2573-294C>A rs73075341
NM_000214.3(JAG1):c.2575dup (p.Ser859fs)
NM_000214.3(JAG1):c.2579G>A (p.Gly860Glu) rs762121866
NM_000214.3(JAG1):c.2579G>C (p.Gly860Ala)
NM_000214.3(JAG1):c.2581A>G (p.Arg861Gly)
NM_000214.3(JAG1):c.2583dup (p.Pro862fs)
NM_000214.3(JAG1):c.2595dup (p.Met866fs)
NM_000214.3(JAG1):c.2601_2603delinsTGATGCA (p.Ser868fs) rs1568792344
NM_000214.3(JAG1):c.260C>G (p.Thr87Arg)
NM_000214.3(JAG1):c.2611_2612delinsTG (p.Pro871Ter) rs2122597347
NM_000214.3(JAG1):c.2616T>C (p.Asp872=)
NM_000214.3(JAG1):c.2618G>C (p.Gly873Ala)
NM_000214.3(JAG1):c.2619_2620del (p.Ala874fs) rs863223674
NM_000214.3(JAG1):c.2620G>A (p.Ala874Thr)
NM_000214.3(JAG1):c.2625del (p.Lys875fs)
NM_000214.3(JAG1):c.2627G>A (p.Trp876Ter) rs2122597289
NM_000214.3(JAG1):c.2628_2635del (p.Trp876_Asp879delinsTer) rs2122597276
NM_000214.3(JAG1):c.2629dup (p.Asp877fs) rs2067274453
NM_000214.3(JAG1):c.262G>A (p.Ala88Thr)
NM_000214.3(JAG1):c.262G>T (p.Ala88Ser)
NM_000214.3(JAG1):c.2632G>A (p.Asp878Asn) rs750102792
NM_000214.3(JAG1):c.2636A>G (p.Asp879Gly) rs948733750
NM_000214.3(JAG1):c.2638T>C (p.Cys880Arg) rs756911979
NM_000214.3(JAG1):c.2639_2640del (p.Asp879_Cys880insTer) rs1568792286
NM_000214.3(JAG1):c.2640del (p.Asp879_Cys880insTer) rs1085307595
NM_000214.3(JAG1):c.2640dup (p.Asn881Ter)
NM_000214.3(JAG1):c.2645C>T (p.Thr882Ile)
NM_000214.3(JAG1):c.2650C>T (p.Gln884Ter) rs2122597239
NM_000214.3(JAG1):c.2652G>T (p.Gln884His)
NM_000214.3(JAG1):c.2653T>C (p.Cys885Arg) rs1568792271
NM_000214.3(JAG1):c.265G>C (p.Gly89Arg) rs199545881
NM_000214.3(JAG1):c.2665C>G (p.Arg889Gly)
NM_000214.3(JAG1):c.2665C>T (p.Arg889Trp) rs765431150
NM_000214.3(JAG1):c.2672C>T (p.Ala891Val)
NM_000214.3(JAG1):c.2675G>A (p.Cys892Tyr)
NM_000214.3(JAG1):c.2682+18_2682+31del
NM_000214.3(JAG1):c.2682+1G>T rs1568792238
NM_000214.3(JAG1):c.2682+8A>C
NM_000214.3(JAG1):c.2682+8A>G rs560065330
NM_000214.3(JAG1):c.2682G>T (p.Lys894Asn)
NM_000214.3(JAG1):c.2683-17C>T
NM_000214.3(JAG1):c.2683-1G>A
NM_000214.3(JAG1):c.2688G>A (p.Trp896Ter) rs1060501350
NM_000214.3(JAG1):c.2689_2693del (p.Cys897fs) rs1555827790
NM_000214.3(JAG1):c.2690_2694dup (p.Pro899fs)
NM_000214.3(JAG1):c.2690dup (p.Cys897fs) rs2067273607
NM_000214.3(JAG1):c.2698C>T (p.Arg900Ter) rs1555827789
NM_000214.3(JAG1):c.2699G>A (p.Arg900Gln)
NM_000214.3(JAG1):c.269_270del (p.Gly90fs) rs863223667
NM_000214.3(JAG1):c.26G>C (p.Arg9Pro)
NM_000214.3(JAG1):c.2700A>G (p.Arg900=)
NM_000214.3(JAG1):c.2700A>T (p.Arg900=)
NM_000214.3(JAG1):c.2705G>C (p.Cys902Ser) rs876661122
NM_000214.3(JAG1):c.2706C>A (p.Cys902Ter) rs886043869
NM_000214.3(JAG1):c.2709G>A (p.Leu903=)
NM_000214.3(JAG1):c.270dup (p.Pro91fs) rs863223667
NM_000214.3(JAG1):c.2713C>T (p.His905Tyr) rs758741663
NM_000214.3(JAG1):c.2715C>T (p.His905=) rs2122596864
NM_000214.3(JAG1):c.2716A>C (p.Lys906Gln)
NM_000214.3(JAG1):c.2717_2725dup (p.His908_Ser909insLysGlyHis)
NM_000214.3(JAG1):c.271C>G (p.Pro91Ala)
NM_000214.3(JAG1):c.2727_2728dup (p.Glu910fs) rs1600179237
NM_000214.3(JAG1):c.2728G>T (p.Glu910Ter)
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.2732G>A (p.Cys911Tyr) rs1555827782
NM_000214.3(JAG1):c.2733C>G (p.Cys911Trp) rs1411780867
NM_000214.3(JAG1):c.273del (p.Cys92fs) rs2122644538
NM_000214.3(JAG1):c.2743C>T (p.Gln915Ter) rs1568792125
NM_000214.3(JAG1):c.2750G>C (p.Cys917Ser)
NM_000214.3(JAG1):c.2752A>G (p.Ile918Val) rs773431867
NM_000214.3(JAG1):c.2758A>T (p.Ile920Phe) rs1252730791
NM_000214.3(JAG1):c.2759T>C (p.Ile920Thr)
NM_000214.3(JAG1):c.2759_2766del (p.Ile920fs)
NM_000214.3(JAG1):c.2765A>G (p.Asp922Gly)
NM_000214.3(JAG1):c.2766C>A (p.Asp922Glu)
NM_000214.3(JAG1):c.2774_2788delinsCCAGGGCA (p.Cys925fs) rs1555827769
NM_000214.3(JAG1):c.2790C>T (p.Cys930=)
NM_000214.3(JAG1):c.2791A>C (p.Thr931Pro) rs2067272394
NM_000214.3(JAG1):c.2797G>A (p.Val933Met) rs2122596605
NM_000214.3(JAG1):c.2801G>A (p.Gly934Asp) rs1568792060
NM_000214.3(JAG1):c.2803G>A (p.Glu935Lys)
NM_000214.3(JAG1):c.2803G>T (p.Glu935Ter) rs753161584
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.2807G>C (p.Cys936Ser)
NM_000214.3(JAG1):c.2809C>T (p.Arg937Trp) rs779410593
NM_000214.3(JAG1):c.2826G>A (p.Gln942=) rs760765525
NM_000214.3(JAG1):c.2829G>T (p.Pro943=)
NM_000214.3(JAG1):c.2830del (p.Pro943_Val944insTer) rs1555827760
NM_000214.3(JAG1):c.2831T>A (p.Val944Glu) rs1007864519
NM_000214.3(JAG1):c.2840del (p.Lys947fs) rs1060501349
NM_000214.3(JAG1):c.2844C>A (p.Cys948Ter) rs1060501352
NM_000214.3(JAG1):c.2858A>G (p.Tyr953Cys)
NM_000214.3(JAG1):c.2863C>T (p.Gln955Ter) rs2122596452
NM_000214.3(JAG1):c.2866G>C (p.Asp956His)
NM_000214.3(JAG1):c.2881A>G (p.Ile961Val) rs1028081494
NM_000214.3(JAG1):c.2884A>G (p.Thr962Ala)
NM_000214.3(JAG1):c.288A>G (p.Ser96=)
NM_000214.3(JAG1):c.2895dup (p.Asn966Ter) rs878853752
NM_000214.3(JAG1):c.2899_2901del (p.Lys967del)
NM_000214.3(JAG1):c.289G>C (p.Gly97Arg) rs2067506326
NM_000214.3(JAG1):c.28T>C (p.Ser10Pro)
NM_000214.3(JAG1):c.2904G>C (p.Glu968Asp)
NM_000214.3(JAG1):c.2910G>A (p.Met970Ile) rs2067271012
NM_000214.3(JAG1):c.2914C>G (p.Pro972Ala) rs2067270959
NM_000214.3(JAG1):c.2914C>T (p.Pro972Ser) rs2067270959
NM_000214.3(JAG1):c.2916+10A>C
NM_000214.3(JAG1):c.2916+13del rs781696076
NM_000214.3(JAG1):c.2916+16T>G
NM_000214.3(JAG1):c.2916+17G>A rs767489867
NM_000214.3(JAG1):c.2916+17_2916+20del
NM_000214.3(JAG1):c.2916+18T>C
NM_000214.3(JAG1):c.2916+18dup rs3215563
NM_000214.3(JAG1):c.2916+1G>C rs1568791920
NM_000214.3(JAG1):c.2916+27del rs3215563
NM_000214.3(JAG1):c.2917-1G>T rs2122595945
NM_000214.3(JAG1):c.2917-20G>T
NM_000214.3(JAG1):c.2919del (p.Thr975fs)
NM_000214.3(JAG1):c.2920C>G (p.Leu974Val)
NM_000214.3(JAG1):c.2923A>G (p.Thr975Ala)
NM_000214.3(JAG1):c.2924_2925dup (p.Thr976fs) rs863223683
NM_000214.3(JAG1):c.2926A>G (p.Thr976Ala)
NM_000214.3(JAG1):c.292T>C (p.Ser98Pro) rs1333355200
NM_000214.3(JAG1):c.2931del (p.Glu977fs) rs2122595901
NM_000214.3(JAG1):c.2932C>T (p.His978Tyr)
NM_000214.3(JAG1):c.2934C>T (p.His978=)
NM_000214.3(JAG1):c.2939G>C (p.Cys980Ser) rs2122595886
NM_000214.3(JAG1):c.2948del (p.Glu982_Leu983insTer) rs863223675
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.2956_2957dup (p.Leu986fs) rs2122595849
NM_000214.3(JAG1):c.2959A>T (p.Asn987Tyr)
NM_000214.3(JAG1):c.2962A>G (p.Ile988Val)
NM_000214.3(JAG1):c.2966dup (p.Leu989fs) rs1555827729
NM_000214.3(JAG1):c.2968A>T (p.Lys990Ter) rs876661182
NM_000214.3(JAG1):c.2972A>C (p.Asn991Thr)
NM_000214.3(JAG1):c.2973T>C (p.Asn991=) rs1317729135
NM_000214.3(JAG1):c.2978C>T (p.Ser993Phe)
NM_000214.3(JAG1):c.2979_2980delinsTT (p.Ala994Ser) rs2122595817
NM_000214.3(JAG1):c.297_298delinsCT (p.Pro100Ser) rs2122644496
NM_000214.3(JAG1):c.2982T>A (p.Ala994=) rs1340131717
NM_000214.3(JAG1):c.2990C>G (p.Ser997Ter) rs2067268487
NM_000214.3(JAG1):c.2990C>T (p.Ser997Leu)
NM_000214.3(JAG1):c.2995T>C (p.Tyr999His)
NM_000214.3(JAG1):c.2996A>C (p.Tyr999Ser) rs1555827726
NM_000214.3(JAG1):c.2998_3004del (p.Ile1000fs)
NM_000214.3(JAG1):c.2999dup (p.Ala1001fs)
NM_000214.3(JAG1):c.29C>T (p.Ser10Phe)
NM_000214.3(JAG1):c.3000C>G (p.Ile1000Met)
NM_000214.3(JAG1):c.3000C>T (p.Ile1000=) rs373759023
NM_000214.3(JAG1):c.3001G>T (p.Ala1001Ser)
NM_000214.3(JAG1):c.3001_3002dup (p.Cys1002fs) rs2067268275
NM_000214.3(JAG1):c.3002C>T (p.Ala1001Val) rs2122595760
NM_000214.3(JAG1):c.3003_3006dup (p.Glu1003fs)
NM_000214.3(JAG1):c.3006C>A (p.Cys1002Ter) rs372984801
NM_000214.3(JAG1):c.3006_3024dup (p.Asn1009fs) rs2122595693
NM_000214.3(JAG1):c.3007G>A (p.Glu1003Lys) rs781509375
NM_000214.3(JAG1):c.3007G>C (p.Glu1003Gln) rs781509375
NM_000214.3(JAG1):c.3007G>T (p.Glu1003Ter) rs781509375
NM_000214.3(JAG1):c.3007_3013dup (p.Ser1005Ter) rs1568791694
NM_000214.3(JAG1):c.3007_3017dup (p.Ala1008fs) rs1600178720
NM_000214.3(JAG1):c.3008_3009dup (p.Pro1004fs) rs863223676
NM_000214.3(JAG1):c.3008_3012dup (p.Pro1006fs) rs1600178730
NM_000214.3(JAG1):c.3009G>A (p.Glu1003=)
NM_000214.3(JAG1):c.3009_3025dup (p.Asn1009fs) rs1555827717
NM_000214.3(JAG1):c.3016C>T (p.Pro1006Ser) rs2122595723
NM_000214.3(JAG1):c.3017C>G (p.Pro1006Arg)
NM_000214.3(JAG1):c.301G>C (p.Val101Leu) rs1600196349
NM_000214.3(JAG1):c.3023C>G (p.Ala1008Gly) rs577307986
NM_000214.3(JAG1):c.3029A>G (p.Asn1010Ser) rs2067267863
NM_000214.3(JAG1):c.3031G>C (p.Glu1011Gln)
NM_000214.3(JAG1):c.3032A>G (p.Glu1011Gly) rs2067267844
NM_000214.3(JAG1):c.3039dup (p.Val1014fs) rs2122595645
NM_000214.3(JAG1):c.303C>G (p.Val101=)
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.3048+2T>A
NM_000214.3(JAG1):c.3048+30_3048+32del rs759022807
NM_000214.3(JAG1):c.3048+5G>A
NM_000214.3(JAG1):c.3049-2A>G rs2122595262
NM_000214.3(JAG1):c.3057dup (p.Asp1020fs)
NM_000214.3(JAG1):c.3061A>C (p.Ile1021Leu)
NM_000214.3(JAG1):c.3062T>C (p.Ile1021Thr) rs1736644803
NM_000214.3(JAG1):c.3062del (p.Ile1021fs) rs876661095
NM_000214.3(JAG1):c.3067del (p.Asp1023fs) rs863223677
NM_000214.3(JAG1):c.3070G>A (p.Asp1024Asn)
NM_000214.3(JAG1):c.3074_3075delinsAA (p.Gly1025Glu)
NM_000214.3(JAG1):c.307G>A (p.Gly103Arg) rs749591256
NM_000214.3(JAG1):c.307G>C (p.Gly103Arg) rs749591256
NM_000214.3(JAG1):c.3081G>T (p.Pro1027=)
NM_000214.3(JAG1):c.3083T>C (p.Ile1028Thr)
NM_000214.3(JAG1):c.3084C>A (p.Ile1028=) rs2122595186
NM_000214.3(JAG1):c.3097G>A (p.Asp1033Asn)
NM_000214.3(JAG1):c.3097G>C (p.Asp1033His) rs772228887
NM_000214.3(JAG1):c.3099C>G (p.Asp1033Glu)
NM_000214.3(JAG1):c.30del (p.Arg12fs) rs1568807483
NM_000214.3(JAG1):c.3100A>T (p.Lys1034Ter) rs2122595154
NM_000214.3(JAG1):c.310G>A (p.Gly104Ser)
NM_000214.3(JAG1):c.3112C>A (p.Leu1038Ile)
NM_000214.3(JAG1):c.3112C>G (p.Leu1038Val)
NM_000214.3(JAG1):c.311del (p.Gly104fs) rs886041782
NM_000214.3(JAG1):c.3124C>T (p.Arg1042Cys)
NM_000214.3(JAG1):c.3127G>A (p.Asp1043Asn) rs1278689263
NM_000214.3(JAG1):c.3132A>C (p.Gly1044=)
NM_000214.3(JAG1):c.3140C>A (p.Ser1047Ter) rs267605834
NM_000214.3(JAG1):c.3140C>T (p.Ser1047Leu) rs267605834
NM_000214.3(JAG1):c.3147T>C (p.Ile1049=) rs1003116204
NM_000214.3(JAG1):c.3147T>G (p.Ile1049Met)
NM_000214.3(JAG1):c.3149C>T (p.Ala1050Val) rs764799076
NM_000214.3(JAG1):c.314A>G (p.Asn105Ser) rs1568806951
NM_000214.3(JAG1):c.3153del (p.Val1052fs)
NM_000214.3(JAG1):c.3157G>A (p.Ala1053Thr) rs2067265410
NM_000214.3(JAG1):c.3164T>A (p.Val1055Glu)
NM_000214.3(JAG1):c.3164_3167del (p.Val1055fs) rs1555827653
NM_000214.3(JAG1):c.3164dup (p.Arg1056fs) rs2122595010
NM_000214.3(JAG1):c.3165_3184del (p.Arg1056fs) rs1568791393
NM_000214.3(JAG1):c.3168_3169del (p.Arg1056fs) rs1555827650
NM_000214.3(JAG1):c.3169G>A (p.Val1057Ile)
NM_000214.3(JAG1):c.3169G>C (p.Val1057Leu)
NM_000214.3(JAG1):c.3170T>C (p.Val1057Ala) rs2122594991
NM_000214.3(JAG1):c.3172C>T (p.Gln1058Ter)
NM_000214.3(JAG1):c.3178C>T (p.Arg1060Trp)
NM_000214.3(JAG1):c.3180G>A (p.Arg1060=) rs2122594977
NM_000214.3(JAG1):c.3183T>G (p.Pro1061=)
NM_000214.3(JAG1):c.3186dup (p.Lys1063fs)
NM_000214.3(JAG1):c.3195A>C (p.Arg1065Ser) rs2067265121
NM_000214.3(JAG1):c.3196_3200del (p.Thr1066fs) rs2067265104
NM_000214.3(JAG1):c.3197dup (p.Asp1067fs)
NM_000214.3(JAG1):c.3199+16G>A rs774297666
NM_000214.3(JAG1):c.3199+17A>G
NM_000214.3(JAG1):c.3200-15G>A rs1772957013
NM_000214.3(JAG1):c.3200-16T>C rs2122593723
NM_000214.3(JAG1):c.3203del (p.Phe1068fs) rs2122593684
NM_000214.3(JAG1):c.3206T>C (p.Leu1069Pro)
NM_000214.3(JAG1):c.3208G>A (p.Val1070Ile)
NM_000214.3(JAG1):c.3209T>C (p.Val1070Ala)
NM_000214.3(JAG1):c.3213dup (p.Leu1073fs) rs1568791022
NM_000214.3(JAG1):c.3222C>T (p.Ser1074=)
NM_000214.3(JAG1):c.3226G>A (p.Val1076Ile)
NM_000214.3(JAG1):c.3228C>T (p.Val1076=)
NM_000214.3(JAG1):c.322A>C (p.Asn108His) rs1242473299
NM_000214.3(JAG1):c.3230T>G (p.Leu1077Ter)
NM_000214.3(JAG1):c.3233C>G (p.Thr1078Ser) rs767851768
NM_000214.3(JAG1):c.323A>T (p.Asn108Ile) rs2067505956
NM_000214.3(JAG1):c.3243G>A (p.Trp1081Ter)
NM_000214.3(JAG1):c.3245_3257del (p.Ile1082fs) rs2067258421
NM_000214.3(JAG1):c.3255G>C (p.Leu1085Phe)
NM_000214.3(JAG1):c.3256G>A (p.Val1086Met) rs1334024757
NM_000214.3(JAG1):c.3257dup (p.Thr1087fs) rs2067258384
NM_000214.3(JAG1):c.3259A>G (p.Thr1087Ala) rs1600177820
NM_000214.3(JAG1):c.3261G>A (p.Thr1087=)
NM_000214.3(JAG1):c.3265T>C (p.Phe1089Leu)
NM_000214.3(JAG1):c.3284A>G (p.Lys1095Arg)
NM_000214.3(JAG1):c.3287_3295del (p.Arg1096_Lys1098del) rs771530161
NM_000214.3(JAG1):c.3287_3295dup (p.Arg1096_Lys1098dup) rs771530161
NM_000214.3(JAG1):c.3293A>G (p.Lys1098Arg) rs2067257938
NM_000214.3(JAG1):c.3297G>C (p.Pro1099=)
NM_000214.3(JAG1):c.3302G>A (p.Ser1101Asn)
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.3308del (p.Thr1103fs) rs869312854
NM_000214.3(JAG1):c.3309A>C (p.Thr1103=) rs1259778353
NM_000214.3(JAG1):c.3309A>T (p.Thr1103=)
NM_000214.3(JAG1):c.3313T>A (p.Ser1105Thr)
NM_000214.3(JAG1):c.3317C>G (p.Ala1106Gly)
NM_000214.3(JAG1):c.3318C>T (p.Ala1106=) rs751836991
NM_000214.3(JAG1):c.331G>A (p.Ala111Thr) rs763966262
NM_000214.3(JAG1):c.3325G>A (p.Asp1109Asn)
NM_000214.3(JAG1):c.3325G>T (p.Asp1109Tyr) rs1044765003
NM_000214.3(JAG1):c.3328A>G (p.Asn1110Asp)
NM_000214.3(JAG1):c.3329A>G (p.Asn1110Ser) rs150811951
NM_000214.3(JAG1):c.332C>T (p.Ala111Val)
NM_000214.3(JAG1):c.3331A>G (p.Thr1111Ala)
NM_000214.3(JAG1):c.3338A>C (p.Asn1113Thr) rs371118939
NM_000214.3(JAG1):c.3340A>G (p.Asn1114Asp)
NM_000214.3(JAG1):c.3348G>A (p.Arg1116=)
NM_000214.3(JAG1):c.3351G>C (p.Glu1117Asp) rs1568790865
NM_000214.3(JAG1):c.3353_3354delinsCC (p.Gln1118Pro) rs2122593353
NM_000214.3(JAG1):c.335G>A (p.Ser112Asn)
NM_000214.3(JAG1):c.3360C>T (p.Asn1120=) rs1157149628
NM_000214.3(JAG1):c.3377T>C (p.Ile1126Thr)
NM_000214.3(JAG1):c.3387T>C (p.His1129=)
NM_000214.3(JAG1):c.3390G>A (p.Gly1130=)
NM_000214.3(JAG1):c.3391G>T (p.Ala1131Ser) rs769242977
NM_000214.3(JAG1):c.3399G>A (p.Thr1133=)
NM_000214.3(JAG1):c.33G>T (p.Gly11=)
NM_000214.3(JAG1):c.3408C>A (p.Ile1136=)
NM_000214.3(JAG1):c.3410A>G (p.Lys1137Arg)
NM_000214.3(JAG1):c.3417_3418inv (p.Glu1140Lys)
NM_000214.3(JAG1):c.341del (p.Gly114fs)
NM_000214.3(JAG1):c.3431C>G (p.Ser1144Cys)
NM_000214.3(JAG1):c.343A>G (p.Asn115Asp) rs2122644398
NM_000214.3(JAG1):c.3452del (p.Thr1151fs)
NM_000214.3(JAG1):c.3455A>C (p.His1152Pro)
NM_000214.3(JAG1):c.3456C>G (p.His1152Gln)
NM_000214.3(JAG1):c.3456C>T (p.His1152=)
NM_000214.3(JAG1):c.3460T>C (p.Ser1154Pro) rs2122593151
NM_000214.3(JAG1):c.346G>T (p.Asp116Tyr)
NM_000214.3(JAG1):c.3476A>T (p.Asp1159Val)
NM_000214.3(JAG1):c.3478G>C (p.Asp1160His) rs755047447
NM_000214.3(JAG1):c.347A>T (p.Asp116Val) rs2067505703
NM_000214.3(JAG1):c.3481A>G (p.Met1161Val)
NM_000214.3(JAG1):c.3487A>G (p.Lys1163Glu)
NM_000214.3(JAG1):c.3492C>T (p.His1164=)
NM_000214.3(JAG1):c.349C>G (p.Arg117Gly) rs752608779
NM_000214.3(JAG1):c.349del (p.Arg117fs)
NM_000214.3(JAG1):c.349dup (p.Arg117fs) rs886041727
NM_000214.3(JAG1):c.3503C>G (p.Ala1168Gly)
NM_000214.3(JAG1):c.3505C>G (p.Arg1169Gly) rs368162343
NM_000214.3(JAG1):c.3505C>T (p.Arg1169Trp)
NM_000214.3(JAG1):c.350del (p.Arg117fs) rs1555830929
NM_000214.3(JAG1):c.3510T>G (p.Phe1170Leu)
NM_000214.3(JAG1):c.3517C>A (p.Gln1173Lys) rs1555827480
NM_000214.3(JAG1):c.3522G>A (p.Pro1174=) rs1413360004
NM_000214.3(JAG1):c.3530C>G (p.Thr1177Arg)
NM_000214.3(JAG1):c.3531G>A (p.Thr1177=) rs778296544
NM_000214.3(JAG1):c.3531G>T (p.Thr1177=)
NM_000214.3(JAG1):c.3534G>T (p.Leu1178=)
NM_000214.3(JAG1):c.3535G>A (p.Val1179Ile)
NM_000214.3(JAG1):c.3538G>A (p.Asp1180Asn)
NM_000214.3(JAG1):c.3540C>T (p.Asp1180=) rs963076704
NM_000214.3(JAG1):c.3544G>A (p.Glu1182Lys) rs1479790705
NM_000214.3(JAG1):c.3545A>T (p.Glu1182Val)
NM_000214.3(JAG1):c.3554C>T (p.Pro1185Leu)
NM_000214.3(JAG1):c.3557C>G (p.Pro1186Arg) rs886357715
NM_000214.3(JAG1):c.3557C>T (p.Pro1186Leu)
NM_000214.3(JAG1):c.3558C>T (p.Pro1186=)
NM_000214.3(JAG1):c.355C>T (p.Arg119Cys) rs1555830925
NM_000214.3(JAG1):c.3561C>G (p.Asn1187Lys) rs754010868
NM_000214.3(JAG1):c.3564C>T (p.Gly1188=)
NM_000214.3(JAG1):c.3569C>T (p.Pro1190Leu)
NM_000214.3(JAG1):c.3577C>T (p.His1193Tyr)
NM_000214.3(JAG1):c.3579C>G (p.His1193Gln)
NM_000214.3(JAG1):c.3581C>T (p.Pro1194Leu)
NM_000214.3(JAG1):c.3586T>G (p.Trp1196Gly)
NM_000214.3(JAG1):c.3589A>G (p.Thr1197Ala) rs776209860
NM_000214.3(JAG1):c.3590C>A (p.Thr1197Lys)
NM_000214.3(JAG1):c.359T>C (p.Ile120Thr)
NM_000214.3(JAG1):c.35G>A (p.Arg12His) rs993180718
NM_000214.3(JAG1):c.3604A>G (p.Asn1202Asp)
NM_000214.3(JAG1):c.360C>T (p.Ile120=) rs1199774396
NM_000214.3(JAG1):c.3617A>T (p.Glu1206Val)
NM_000214.3(JAG1):c.3620G>A (p.Ser1207Asn)
NM_000214.3(JAG1):c.3623C>T (p.Ala1208Val) rs2122592834
NM_000214.3(JAG1):c.3637C>T (p.Arg1213Ter) rs769276255
NM_000214.3(JAG1):c.3638G>T (p.Arg1213Leu) rs138007561
NM_000214.3(JAG1):c.3644A>C (p.Glu1215Ala)
NM_000214.3(JAG1):c.3648C>A (p.Tyr1216Ter)
NM_000214.3(JAG1):c.3649A>C (p.Ile1217Leu)
NM_000214.3(JAG1):c.3651C>A (p.Ile1217=)
NM_000214.3(JAG1):c.3653T>A (p.Val1218Glu)
NM_000214.3(JAG1):c.368C>T (p.Pro123Leu) rs2122644329
NM_000214.3(JAG1):c.36C>A (p.Arg12=) rs886042810
NM_000214.3(JAG1):c.36C>T (p.Arg12=)
NM_000214.3(JAG1):c.373A>G (p.Ser125Gly)
NM_000214.3(JAG1):c.375T>G (p.Ser125Arg) rs2067505361
NM_000214.3(JAG1):c.377_378delinsAA (p.Phe126Ter) rs886039724
NM_000214.3(JAG1):c.379G>A (p.Ala127Thr) rs930247415
NM_000214.3(JAG1):c.382T>C (p.Trp128Arg) rs1568806888
NM_000214.3(JAG1):c.384G>A (p.Trp128Ter) rs2122644306
NM_000214.3(JAG1):c.387+10dup rs1464058487
NM_000214.3(JAG1):c.387+15G>C rs760979506
NM_000214.3(JAG1):c.387+1G>A
NM_000214.3(JAG1):c.387+1G>C
NM_000214.3(JAG1):c.387+1G>T
NM_000214.3(JAG1):c.387+2T>C rs1555830919
NM_000214.3(JAG1):c.387+6_387+7del
NM_000214.3(JAG1):c.388-10T>A rs1568803400
NM_000214.3(JAG1):c.388-12T>G rs2122632237
NM_000214.3(JAG1):c.388-13G>C rs1445257289
NM_000214.3(JAG1):c.388-14T>A
NM_000214.3(JAG1):c.388-16_388-12delinsCAGAGGTCCTATACG
NM_000214.3(JAG1):c.388-18_388-17insCAGAG
NM_000214.3(JAG1):c.388-19TTGT[2] rs750004416
NM_000214.3(JAG1):c.388-2A>C rs2067434947
NM_000214.3(JAG1):c.388-8del
NM_000214.3(JAG1):c.38C>A (p.Pro13His)
NM_000214.3(JAG1):c.390dup (p.Ser131fs) rs886044111
NM_000214.3(JAG1):c.391T>C (p.Ser131Pro)
NM_000214.3(JAG1):c.395A>C (p.Tyr132Ser)
NM_000214.3(JAG1):c.396T>C (p.Tyr132=)
NM_000214.3(JAG1):c.39C>T (p.Pro13=) rs2122645916
NM_000214.3(JAG1):c.3G>A (p.Met1Ile) rs1555831014
NM_000214.3(JAG1):c.406G>A (p.Val136Met)
NM_000214.3(JAG1):c.406G>T (p.Val136Leu)
NM_000214.3(JAG1):c.408_409dup (p.Glu137fs) rs2067434779
NM_000214.3(JAG1):c.40C>T (p.Leu14=)
NM_000214.3(JAG1):c.415T>G (p.Trp139Gly)
NM_000214.3(JAG1):c.41del (p.Leu14fs) rs1568807463
NM_000214.3(JAG1):c.422C>A (p.Ser141Tyr)
NM_000214.3(JAG1):c.425G>A (p.Ser142Asn) rs1436395839
NM_000214.3(JAG1):c.428A>T (p.Asn143Ile)
NM_000214.3(JAG1):c.42A>G (p.Leu14=)
NM_000214.3(JAG1):c.435C>A (p.Thr145=) rs747879633
NM_000214.3(JAG1):c.435C>T (p.Thr145=) rs747879633
NM_000214.3(JAG1):c.438_439+2del rs2122632102
NM_000214.3(JAG1):c.439+11C>T
NM_000214.3(JAG1):c.439+13T>C
NM_000214.3(JAG1):c.439+16G>A
NM_000214.3(JAG1):c.439+1G>A rs863223648
NM_000214.3(JAG1):c.439+6T>A rs2067434392
NM_000214.3(JAG1):c.439C>T (p.Gln147Ter) rs886043606
NM_000214.3(JAG1):c.440-19T>G
NM_000214.3(JAG1):c.440-22T>G rs776924226
NM_000214.3(JAG1):c.440-3T>C rs1292445129
NM_000214.3(JAG1):c.442C>T (p.Pro148Ser) rs1355919795
NM_000214.3(JAG1):c.443del (p.Pro148fs)
NM_000214.3(JAG1):c.459_460insT (p.Lys154Ter) rs1568801096
NM_000214.3(JAG1):c.463G>C (p.Ala155Pro)
NM_000214.3(JAG1):c.468T>C (p.Ser156=) rs2122623838
NM_000214.3(JAG1):c.470A>C (p.His157Pro) rs2122623835
NM_000214.3(JAG1):c.473C>G (p.Ser158Trp) rs747203032
NM_000214.3(JAG1):c.473C>T (p.Ser158Leu)
NM_000214.3(JAG1):c.474G>C (p.Ser158=) rs555794483
NM_000214.3(JAG1):c.487C>T (p.Pro163Ser) rs2067394475
NM_000214.3(JAG1):c.488C>G (p.Pro163Arg) rs1555829676
NM_000214.3(JAG1):c.48C>T (p.Leu16=) rs901489977
NM_000214.3(JAG1):c.490A>G (p.Ser164Gly)
NM_000214.3(JAG1):c.493C>G (p.Arg165Gly) rs749293754
NM_000214.3(JAG1):c.493C>T (p.Arg165Trp) rs749293754
NM_000214.3(JAG1):c.495G>T (p.Arg165=)
NM_000214.3(JAG1):c.496C>T (p.Gln166Ter)
NM_000214.3(JAG1):c.499T>C (p.Trp167Arg) rs2067394353
NM_000214.3(JAG1):c.4C>T (p.Arg2Cys)
NM_000214.3(JAG1):c.500G>A (p.Trp167Ter) rs1568801068
NM_000214.3(JAG1):c.505A>G (p.Thr169Ala)
NM_000214.3(JAG1):c.506C>T (p.Thr169Met)
NM_000214.3(JAG1):c.507G>A (p.Thr169=)
NM_000214.3(JAG1):c.513G>A (p.Lys171=)
NM_000214.3(JAG1):c.514C>T (p.Gln172Ter)
NM_000214.3(JAG1):c.51G>A (p.Leu17=) rs1018632242
NM_000214.3(JAG1):c.522G>C (p.Thr174=)
NM_000214.3(JAG1):c.524G>T (p.Gly175Val) rs2122623743
NM_000214.3(JAG1):c.52C>A (p.Leu18Ile)
NM_000214.3(JAG1):c.52C>T (p.Leu18Phe)
NM_000214.3(JAG1):c.532del (p.His178fs) rs2067394045
NM_000214.3(JAG1):c.537dup (p.Glu180Ter) rs863223663
NM_000214.3(JAG1):c.53T>G (p.Leu18Arg)
NM_000214.3(JAG1):c.543T>A (p.Tyr181Ter) rs1060501351
NM_000214.3(JAG1):c.544C>T (p.Gln182Ter) rs863223678
NM_000214.3(JAG1):c.545A>G (p.Gln182Arg)
NM_000214.3(JAG1):c.546G>C (p.Gln182His) rs2122623700
NM_000214.3(JAG1):c.54C>T (p.Leu18=)
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.552C>T (p.Arg184=)
NM_000214.3(JAG1):c.554T>A (p.Val185Glu) rs2067393827
NM_000214.3(JAG1):c.558C>T (p.Thr186=) rs776616206
NM_000214.3(JAG1):c.558_567del (p.Cys187fs) rs2067393679
NM_000214.3(JAG1):c.559T>C (p.Cys187Arg)
NM_000214.3(JAG1):c.566A>G (p.Asp189Gly)
NM_000214.3(JAG1):c.568T>G (p.Tyr190Asp) rs1242543124
NM_000214.3(JAG1):c.56C>T (p.Ala19Val) rs886043988
NM_000214.3(JAG1):c.571T>C (p.Tyr191His)
NM_000214.3(JAG1):c.575A>G (p.Tyr192Cys) rs2067393579
NM_000214.3(JAG1):c.578del (p.Gly193fs) rs2067393549
NM_000214.3(JAG1):c.587_588delinsT (p.Cys196fs) rs863223664
NM_000214.3(JAG1):c.588C>A (p.Cys196Ter) rs1801138
NM_000214.3(JAG1):c.590A>C (p.Asn197Thr)
NM_000214.3(JAG1):c.590A>G (p.Asn197Ser) rs2122623617
NM_000214.3(JAG1):c.596del (p.Phe199fs)
NM_000214.3(JAG1):c.59T>C (p.Leu20Pro) rs1568807442
NM_000214.3(JAG1):c.5G>A (p.Arg2His)
NM_000214.3(JAG1):c.601C>T (p.Arg201Cys) rs794727618
NM_000214.3(JAG1):c.606C>T (p.Pro202=) rs2122623600
NM_000214.3(JAG1):c.611A>G (p.Asp204Gly) rs2122623598
NM_000214.3(JAG1):c.61C>G (p.Leu21Val)
NM_000214.3(JAG1):c.622G>T (p.Gly208Ter) rs2122623590
NM_000214.3(JAG1):c.626A>G (p.His209Arg) rs863223679
NM_000214.3(JAG1):c.627C>A (p.His209Gln)
NM_000214.3(JAG1):c.62T>C (p.Leu21Pro) rs876660977
NM_000214.3(JAG1):c.630T>C (p.Tyr210=)
NM_000214.3(JAG1):c.634T>C (p.Cys212Arg) rs1555829660
NM_000214.3(JAG1):c.635G>A (p.Cys212Tyr)
NM_000214.3(JAG1):c.635G>C (p.Cys212Ser)
NM_000214.3(JAG1):c.636T>C (p.Cys212=) rs1178684049
NM_000214.3(JAG1):c.644A>G (p.Asn215Ser)
NM_000214.3(JAG1):c.647G>T (p.Gly216Val)
NM_000214.3(JAG1):c.647del (p.Gly216fs)
NM_000214.3(JAG1):c.648dup (p.Asn217fs) rs1131691963
NM_000214.3(JAG1):c.64T>C (p.Cys22Arg) rs1555831004
NM_000214.3(JAG1):c.650A>G (p.Asn217Ser)
NM_000214.3(JAG1):c.651C>A (p.Asn217Lys)
NM_000214.3(JAG1):c.655dup (p.Thr219fs) rs2122623531
NM_000214.3(JAG1):c.659G>T (p.Cys220Phe)
NM_000214.3(JAG1):c.661A>G (p.Met221Val)
NM_000214.3(JAG1):c.664del (p.Glu222fs) rs863223665
NM_000214.3(JAG1):c.665A>G (p.Glu222Gly)
NM_000214.3(JAG1):c.677G>A (p.Gly226Asp)
NM_000214.3(JAG1):c.677dup (p.Glu228fs) rs2122623497
NM_000214.3(JAG1):c.67G>A (p.Ala23Thr)
NM_000214.3(JAG1):c.67G>T (p.Ala23Ser) rs2067513128
NM_000214.3(JAG1):c.682G>T (p.Glu228Ter) rs1286744339
NM_000214.3(JAG1):c.684A>G (p.Glu228=) rs2122623475
NM_000214.3(JAG1):c.693_694del (p.Arg231fs) rs876660978
NM_000214.3(JAG1):c.694+14T>C
NM_000214.3(JAG1):c.694+18C>A
NM_000214.3(JAG1):c.694+1G>A rs876660979
NM_000214.3(JAG1):c.694+20T>A
NM_000214.3(JAG1):c.694+3_694+4del rs1235111413
NM_000214.3(JAG1):c.694+4T>C rs944996400
NM_000214.3(JAG1):c.694+4TG[6]
NM_000214.3(JAG1):c.694+4TG[8] rs112693360
NM_000214.3(JAG1):c.694+80A>G
NM_000214.3(JAG1):c.695-10dup rs762788344
NM_000214.3(JAG1):c.695-12T>A rs886039498
NM_000214.3(JAG1):c.695-1G>C
NM_000214.3(JAG1):c.695-5del rs762788344
NM_000214.3(JAG1):c.699_700del (p.Ile233fs)
NM_000214.3(JAG1):c.6T>G (p.Arg2=)
NM_000214.3(JAG1):c.700T>A (p.Cys234Ser) rs1555829415
NM_000214.3(JAG1):c.701G>A (p.Cys234Tyr) rs121918353
NM_000214.3(JAG1):c.702C>A (p.Cys234Ter)
NM_000214.3(JAG1):c.703C>T (p.Arg235Ter) rs876660980
NM_000214.3(JAG1):c.704G>A (p.Arg235Gln) rs1245693208
NM_000214.3(JAG1):c.708A>G (p.Gln236=) rs2067379739
NM_000214.3(JAG1):c.709G>A (p.Gly237Ser)
NM_000214.3(JAG1):c.711C>T (p.Gly237=) rs1555829409
NM_000214.3(JAG1):c.712T>C (p.Cys238Arg)
NM_000214.3(JAG1):c.713G>A (p.Cys238Tyr) rs2122620330
NM_000214.3(JAG1):c.715dup (p.Ser239fs)
NM_000214.3(JAG1):c.716G>A (p.Ser239Asn) rs2067379682
NM_000214.3(JAG1):c.719C>T (p.Pro240Leu)
NM_000214.3(JAG1):c.71T>C (p.Leu24Pro) rs1135401949
NM_000214.3(JAG1):c.723G>A (p.Lys241=) rs2122620300
NM_000214.3(JAG1):c.725A>G (p.His242Arg)
NM_000214.3(JAG1):c.729G>A (p.Gly243=)
NM_000214.3(JAG1):c.733T>C (p.Cys245Arg) rs2122620282
NM_000214.3(JAG1):c.734dup (p.Cys245fs) rs2122620277
NM_000214.3(JAG1):c.73_74del (p.Arg25fs) rs2067513100
NM_000214.3(JAG1):c.744A>T (p.Pro248=)
NM_000214.3(JAG1):c.74dup (p.Ala26fs)
NM_000214.3(JAG1):c.753C>A (p.Cys251Ter)
NM_000214.3(JAG1):c.755+113T>A rs187074802
NM_000214.3(JAG1):c.755+13G>A
NM_000214.3(JAG1):c.755+18T>C
NM_000214.3(JAG1):c.755+6T>C
NM_000214.3(JAG1):c.755+9del rs2122620228
NM_000214.3(JAG1):c.755G>A (p.Arg252Lys)
NM_000214.3(JAG1):c.756-16T>C
NM_000214.3(JAG1):c.756-1G>C rs1568798388
NM_000214.3(JAG1):c.756-1G>T rs1568798388
NM_000214.3(JAG1):c.756-83_780del
NM_000214.3(JAG1):c.757T>C (p.Cys253Arg) rs2122615195
NM_000214.3(JAG1):c.760C>T (p.Gln254Ter)
NM_000214.3(JAG1):c.764_765inv (p.Tyr255Cys)
NM_000214.3(JAG1):c.765C>G (p.Tyr255Ter) rs1131695
NM_000214.3(JAG1):c.76G>A (p.Ala26Thr) rs2067513063
NM_000214.3(JAG1):c.771G>A (p.Trp257Ter)
NM_000214.3(JAG1):c.771G>T (p.Trp257Cys)
NM_000214.3(JAG1):c.772C>G (p.Gln258Glu) rs1261155576
NM_000214.3(JAG1):c.775G>A (p.Gly259Ser)
NM_000214.3(JAG1):c.776G>A (p.Gly259Asp)
NM_000214.3(JAG1):c.776G>T (p.Gly259Val) rs1568798363
NM_000214.3(JAG1):c.779T>C (p.Leu260Pro)
NM_000214.3(JAG1):c.77C>T (p.Ala26Val)
NM_000214.3(JAG1):c.783C>G (p.Tyr261Ter) rs2122615158
NM_000214.3(JAG1):c.785G>A (p.Cys262Tyr)
NM_000214.3(JAG1):c.789_791del (p.Asp263_Lys264delinsGlu)
NM_000214.3(JAG1):c.793T>G (p.Cys265Gly)
NM_000214.3(JAG1):c.795C>A (p.Cys265Ter)
NM_000214.3(JAG1):c.797del (p.Ile266fs) rs863223668
NM_000214.3(JAG1):c.798C>T (p.Ile266=) rs2122615138
NM_000214.3(JAG1):c.7dup (p.Ser3fs) rs863223662
NM_000214.3(JAG1):c.805C>T (p.Pro269Ser)
NM_000214.3(JAG1):c.806C>T (p.Pro269Leu) rs797044956
NM_000214.3(JAG1):c.807G>C (p.Pro269=) rs753646278
NM_000214.3(JAG1):c.81+17G>A rs1249688328
NM_000214.3(JAG1):c.81+1G>A rs876661066
NM_000214.3(JAG1):c.81+8C>A
NM_000214.3(JAG1):c.813C>G (p.Cys271Trp) rs766245856
NM_000214.3(JAG1):c.813C>T (p.Cys271=)
NM_000214.3(JAG1):c.815T>A (p.Val272Asp)
NM_000214.3(JAG1):c.82-161del rs33929314
NM_000214.3(JAG1):c.82-16C>T
NM_000214.3(JAG1):c.82-175dup rs33929314
NM_000214.3(JAG1):c.82-19C>T rs2067508451
NM_000214.3(JAG1):c.82-1G>C rs2067508256
NM_000214.3(JAG1):c.82-25ACCT[3]
NM_000214.3(JAG1):c.82-2A>G rs1568807161
NM_000214.3(JAG1):c.82-5G>T
NM_000214.3(JAG1):c.82-9C>T
NM_000214.3(JAG1):c.820G>A (p.Gly274Ser) rs2122615095
NM_000214.3(JAG1):c.820G>T (p.Gly274Cys) rs2122615095
NM_000214.3(JAG1):c.821G>A (p.Gly274Asp) rs28939668
NM_000214.3(JAG1):c.822C>T (p.Gly274=)
NM_000214.3(JAG1):c.826T>C (p.Cys276Arg) rs2067354186
NM_000214.3(JAG1):c.830A>G (p.Asn277Ser)
NM_000214.3(JAG1):c.831T>C (p.Asn277=) rs2122615074
NM_000214.3(JAG1):c.837C>A (p.Pro279=)
NM_000214.3(JAG1):c.838T>G (p.Trp280Gly)
NM_000214.3(JAG1):c.841C>T (p.Gln281Ter) rs886043603
NM_000214.3(JAG1):c.84G>A (p.Val28=)
NM_000214.3(JAG1):c.850T>C (p.Cys284Arg)
NM_000214.3(JAG1):c.851G>A (p.Cys284Tyr)
NM_000214.3(JAG1):c.851G>C (p.Cys284Ser) rs1555829067
NM_000214.3(JAG1):c.851G>T (p.Cys284Phe) rs1555829067
NM_000214.3(JAG1):c.852_853del (p.Cys284_Glu285delinsTer) rs1568798289
NM_000214.3(JAG1):c.863G>A (p.Trp288Ter) rs1064796702
NM_000214.3(JAG1):c.864G>A (p.Trp288Ter)
NM_000214.3(JAG1):c.866G>A (p.Gly289Asp)
NM_000214.3(JAG1):c.866G>T (p.Gly289Val) rs2122615016
NM_000214.3(JAG1):c.86G>C (p.Cys29Ser) rs1434161643
NM_000214.3(JAG1):c.870C>T (p.Gly290=) rs529032883
NM_000214.3(JAG1):c.871C>T (p.Gln291Ter) rs876661096
NM_000214.3(JAG1):c.872A>T (p.Gln291Leu) rs2122614980
NM_000214.3(JAG1):c.878G>A (p.Cys293Tyr) rs1568798248
NM_000214.3(JAG1):c.87T>A (p.Cys29Ter)
NM_000214.3(JAG1):c.882C>A (p.Asp294Glu) rs2122614970
NM_000214.3(JAG1):c.886+15del rs2122614945
NM_000214.3(JAG1):c.886+1G>A rs1600186024
NM_000214.3(JAG1):c.886+3A>G rs1555829065
NM_000214.3(JAG1):c.886+5G>A rs1173329664
NM_000214.3(JAG1):c.887-15G>C rs777025518
NM_000214.3(JAG1):c.887-16A>G
NM_000214.3(JAG1):c.887-17C>T
NM_000214.3(JAG1):c.887-20C>T
NM_000214.3(JAG1):c.887-4G>A rs2067352017
NM_000214.3(JAG1):c.891C>T (p.Leu297=)
NM_000214.3(JAG1):c.89G>A (p.Gly30Glu)
NM_000214.3(JAG1):c.903dup (p.Thr302fs) rs2122614562
NM_000214.3(JAG1):c.910C>T (p.Gln304Ter) rs863223649
NM_000214.3(JAG1):c.912del (p.Gln304fs)
NM_000214.3(JAG1):c.920T>C (p.Leu307Pro)
NM_000214.3(JAG1):c.925G>C (p.Gly309Arg) rs750195672
NM_000214.3(JAG1):c.925G>T (p.Gly309Trp)
NM_000214.3(JAG1):c.927G>A (p.Gly309=)
NM_000214.3(JAG1):c.927G>T (p.Gly309=)
NM_000214.3(JAG1):c.929del (p.Gly310fs) rs1555829039
NM_000214.3(JAG1):c.932del (p.Thr311fs) rs1555829037
NM_000214.3(JAG1):c.933T>C (p.Thr311=)
NM_000214.3(JAG1):c.936T>A (p.Cys312Ter) rs2122614453
NM_000214.3(JAG1):c.939C>T (p.Ser313=)
NM_000214.3(JAG1):c.941del (p.Asn314fs)
NM_000214.3(JAG1):c.945A>G (p.Thr315=) rs1158585077
NM_000214.3(JAG1):c.958T>C (p.Tyr320His) rs2122614423
NM_000214.3(JAG1):c.95C>A (p.Ser32Ter) rs2122644940
NM_000214.3(JAG1):c.962A>G (p.Gln321Arg) rs2067351426
NM_000214.3(JAG1):c.962_964dup (p.Cys322Ter) rs1600185804
NM_000214.3(JAG1):c.974_975del (p.Pro325fs) rs863223669
NM_000214.3(JAG1):c.97G>A (p.Gly33Ser) rs876661123
NM_000214.3(JAG1):c.980G>C (p.Gly327Ala)
NM_000214.3(JAG1):c.983_984insGGTCCTGCCCTGAGG (p.Tyr328Ter)
NM_000214.3(JAG1):c.984T>G (p.Tyr328Ter) rs2122614368
NM_000214.3(JAG1):c.986C>A (p.Ser329Ter) rs1568798024
NM_000214.3(JAG1):c.98G>T (p.Gly33Val) rs2122644925
NM_000214.3(JAG1):c.992C>A (p.Pro331His) rs886044339
NM_000214.3(JAG1):c.994A>T (p.Asn332Tyr)
NM_000214.3(JAG1):c.998G>A (p.Cys333Tyr) rs2122614331

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