ClinVar Miner

List of variants in gene JAG1 studied for not provided

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Gene type:
ClinVar version:
Total variants: 552
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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.*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.*1132T>G rs7828 0.26933
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 0.21993
NM_000214.3(JAG1):c.2572+117A>G rs73075343 0.16904
NM_000214.3(JAG1):c.3199+126T>G rs6074164 0.14552
NM_000214.3(JAG1):c.2572+274G>A rs73075342 0.14084
NM_000214.3(JAG1):c.1349-117A>C rs6108653 0.13427
NM_000214.3(JAG1):c.2372+77T>A rs755034660 0.10622
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 0.08777
NM_000214.3(JAG1):c.1396-155A>G rs35308216 0.08369
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.-433G>A rs73611723 0.07399
NC_000020.11:g.10674216C>T rs7264849 0.07232
NM_000214.3(JAG1):c.755+287T>C rs76730346 0.06958
NM_000214.3(JAG1):c.744A>G (p.Pro248=) rs10485741 0.06845
NM_000214.3(JAG1):c.695-231A>C rs55649270 0.05717
NM_000214.3(JAG1):c.388-43C>T rs17536052 0.05455
NM_000214.3(JAG1):c.755+114A>T rs76481877 0.05194
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 0.03370
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.924C>T (p.Asn308=) rs45575136 0.02472
NM_000214.3(JAG1):c.1006+202C>T rs35793014 0.02369
NM_000214.3(JAG1):c.388-149C>T rs74464347 0.02187
NM_000214.3(JAG1):c.2917-30A>G rs6108652 0.02177
NM_000214.3(JAG1):c.1885+272G>A rs112509369 0.02167
NM_000214.3(JAG1):c.2458+30A>G rs2273059 0.02157
NM_000214.3(JAG1):c.1886-231T>G rs113194138 0.02129
NM_000214.3(JAG1):c.2000-120C>T rs74803975 0.01934
NM_000214.3(JAG1):c.755+51G>A rs34742789 0.01901
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 0.01481
NM_000214.3(JAG1):c.2459-345C>T rs114221614 0.01462
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 0.01014
NM_000214.3(JAG1):c.755+113T>A rs187074802 0.00959
NM_000214.3(JAG1):c.1006+157A>T rs139795187 0.00893
NM_000214.3(JAG1):c.694+55A>G rs60171534 0.00858
NM_000214.3(JAG1):c.2227+17C>T rs115449289 0.00841
NM_000214.3(JAG1):c.1121-205C>T rs55917221 0.00647
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 0.00568
NM_000214.3(JAG1):c.2345-76A>G rs114405662 0.00540
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.2572+47G>A rs147841407 0.00275
NM_000214.3(JAG1):c.439+86T>C rs184638975 0.00261
NM_000214.3(JAG1):c.2458+62C>T rs146155406 0.00249
NM_000214.3(JAG1):c.886+19A>T rs200311847 0.00218
NM_000214.3(JAG1):c.2458+143G>A rs149552847 0.00195
NM_000214.3(JAG1):c.2810G>A (p.Arg937Gln) rs145895196 0.00180
NM_000214.3(JAG1):c.2301G>A (p.Thr767=) rs147634857 0.00153
NM_000214.3(JAG1):c.694+121T>C rs148689714 0.00123
NM_000214.3(JAG1):c.909T>C (p.His303=) rs139574260 0.00119
NM_000214.3(JAG1):c.2459-99T>A rs559816430 0.00116
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.2778C>T (p.Phe926=) rs147793030 0.00089
NM_000214.3(JAG1):c.439+10G>A rs201371037 0.00076
NM_000214.3(JAG1):c.2231G>A (p.Arg744Gln) rs147809756 0.00069
NM_000214.3(JAG1):c.2573-49C>T rs144886349 0.00066
NM_000214.3(JAG1):c.1349-59A>C rs184110582 0.00062
NM_000214.3(JAG1):c.2458+40C>T rs199571405 0.00062
NM_000214.3(JAG1):c.133G>T (p.Val45Leu) rs183974372 0.00054
NM_000214.3(JAG1):c.1389C>T (p.Ser463=) rs147229008 0.00051
NM_000214.3(JAG1):c.2228-68G>A rs371437476 0.00049
NM_000214.3(JAG1):c.1235-87C>A rs138284356 0.00044
NM_000214.3(JAG1):c.1755C>T (p.Asn585=) rs142808131 0.00044
NM_000214.3(JAG1):c.2329C>T (p.Pro777Ser) rs202063628 0.00042
NM_000214.3(JAG1):c.814G>A (p.Val272Ile) rs148990028 0.00041
NM_000214.3(JAG1):c.894T>C (p.Asn298=) rs149897344 0.00039
NM_000214.3(JAG1):c.1920C>T (p.Asn640=) rs372121353 0.00037
NM_000214.3(JAG1):c.2604T>C (p.Ser868=) rs138189639 0.00032
NM_000214.3(JAG1):c.388-4G>C rs567027490 0.00031
NM_000214.3(JAG1):c.2043G>A (p.Thr681=) rs151291264 0.00029
NM_000214.3(JAG1):c.1569+47C>T rs184530396 0.00028
NM_000214.3(JAG1):c.2073T>C (p.Cys691=) rs200648035 0.00026
NM_000214.3(JAG1):c.414G>A (p.Ala138=) rs371682149 0.00026
NM_000214.3(JAG1):c.82G>C (p.Val28Leu) rs142855305 0.00026
NM_000214.3(JAG1):c.1439C>T (p.Ala480Val) rs149366993 0.00024
NM_000214.3(JAG1):c.399G>A (p.Thr133=) rs763154396 0.00024
NM_000214.3(JAG1):c.3280C>T (p.Arg1094Trp) rs75652750 0.00023
NM_000214.3(JAG1):c.3296C>T (p.Pro1099Leu) rs200949270 0.00023
NM_000214.3(JAG1):c.3507G>C (p.Arg1169=) rs138452567 0.00020
NM_000214.3(JAG1):c.1348+3G>A rs368718180 0.00019
NM_000214.3(JAG1):c.526G>A (p.Val176Ile) rs199674138 0.00019
NM_000214.3(JAG1):c.3048+49C>T rs139092361 0.00016
NM_000214.3(JAG1):c.2596A>G (p.Met866Val) rs746108409 0.00015
NM_000214.3(JAG1):c.3281G>A (p.Arg1094Gln) rs139629694 0.00015
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.3467T>C (p.Val1156Ala) rs143966918 0.00014
NM_000214.3(JAG1):c.2286C>T (p.Asn762=) rs144190443 0.00013
NM_000214.3(JAG1):c.19C>T (p.Arg7Cys) rs563232654 0.00012
NM_000214.3(JAG1):c.694+26C>T rs377623653 0.00012
NM_000214.3(JAG1):c.1146C>T (p.Asn382=) rs200133928 0.00011
NM_000214.3(JAG1):c.2666G>A (p.Arg889Gln) rs149419694 0.00011
NM_000214.3(JAG1):c.2917-7G>A rs201573066 0.00011
NM_000214.3(JAG1):c.3329A>C (p.Asn1110Thr) rs150811951 0.00011
NM_000214.3(JAG1):c.1335G>A (p.Gln445=) rs759545669 0.00009
NM_000214.3(JAG1):c.1608C>T (p.Asn536=) rs200648453 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.3346C>T (p.Arg1116Trp) rs377723772 0.00009
NM_000214.3(JAG1):c.1628G>A (p.Arg543His) rs544877858 0.00008
NM_000214.3(JAG1):c.3567G>A (p.Thr1189=) rs373846021 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.3638G>A (p.Arg1213Gln) rs138007561 0.00007
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.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.5G>T (p.Arg2Leu) rs1026004197 0.00006
NM_000214.3(JAG1):c.*9G>A rs372620326 0.00005
NM_000214.3(JAG1):c.1383C>T (p.Asp461=) rs140604589 0.00005
NM_000214.3(JAG1):c.1464C>T (p.Ile488=) rs374629171 0.00005
NM_000214.3(JAG1):c.1720+16C>T rs374498402 0.00005
NM_000214.3(JAG1):c.204C>T (p.Arg68=) rs565407240 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.3038A>T (p.His1013Leu) rs758687380 0.00005
NM_000214.3(JAG1):c.3065G>A (p.Arg1022Gln) rs376089631 0.00005
NM_000214.3(JAG1):c.3153C>T (p.Ala1051=) rs754593633 0.00005
NM_000214.3(JAG1):c.3343G>A (p.Val1115Met) rs148373907 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.1527C>A (p.Phe509Leu) rs770377023 0.00004
NM_000214.3(JAG1):c.1609G>A (p.Gly537Ser) rs756787187 0.00004
NM_000214.3(JAG1):c.1865C>T (p.Thr622Met) rs764089304 0.00004
NM_000214.3(JAG1):c.2312A>G (p.Lys771Arg) rs149949294 0.00004
NM_000214.3(JAG1):c.3651C>T (p.Ile1217=) rs542831744 0.00004
NM_000214.3(JAG1):c.2114-18T>C rs766999933 0.00003
NM_000214.3(JAG1):c.2227+9A>G rs763616526 0.00003
NM_000214.3(JAG1):c.2304C>T (p.Cys768=) rs755427292 0.00003
NM_000214.3(JAG1):c.3289C>T (p.Arg1097Trp) rs768554175 0.00003
NM_000214.3(JAG1):c.3478G>A (p.Asp1160Asn) rs755047447 0.00003
NM_000214.3(JAG1):c.494G>A (p.Arg165Gln) rs779793192 0.00003
NM_000214.3(JAG1):c.1308C>T (p.Cys436=) rs764485729 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.1443C>T (p.Gly481=) rs879921003 0.00002
NM_000214.3(JAG1):c.1707G>A (p.Thr569=) rs745608068 0.00002
NM_000214.3(JAG1):c.2049C>T (p.Arg683=) rs1389234825 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.2393T>A (p.Val798Glu) rs1308346607 0.00002
NM_000214.3(JAG1):c.2498C>T (p.Ala833Val) rs141292792 0.00002
NM_000214.3(JAG1):c.2671G>A (p.Ala891Thr) rs1454234098 0.00002
NM_000214.3(JAG1):c.3001G>A (p.Ala1001Thr) rs200593413 0.00002
NM_000214.3(JAG1):c.3199+13T>C rs762372882 0.00002
NM_000214.3(JAG1):c.3308C>T (p.Thr1103Ile) rs781429347 0.00002
NM_000214.3(JAG1):c.3523G>A (p.Ala1175Thr) rs769685858 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.105C>T (p.Phe35=) rs765442930 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.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.1444G>A (p.Asp482Asn) rs766370717 0.00001
NM_000214.3(JAG1):c.1511A>G (p.Asn504Ser) rs527236046 0.00001
NM_000214.3(JAG1):c.1536G>A (p.Leu512=) rs375773178 0.00001
NM_000214.3(JAG1):c.1556G>C (p.Gly519Ala) rs747241413 0.00001
NM_000214.3(JAG1):c.1575C>T (p.Asp525=) rs1555828589 0.00001
NM_000214.3(JAG1):c.1627C>T (p.Arg543Cys) rs375017114 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.2078G>A (p.Cys693Tyr) rs566563238 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.2148C>T (p.Asn716=) rs550565756 0.00001
NM_000214.3(JAG1):c.2227+38G>A rs766582194 0.00001
NM_000214.3(JAG1):c.2305G>A (p.Val769Ile) rs754301929 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.2413C>T (p.Arg805Trp) rs1458651228 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.2451C>T (p.Cys817=) rs747532570 0.00001
NM_000214.3(JAG1):c.2502C>T (p.Thr834=) rs779052259 0.00001
NM_000214.3(JAG1):c.2559C>T (p.Ala853=) rs201234393 0.00001
NM_000214.3(JAG1):c.264C>T (p.Ala88=) rs1473297367 0.00001
NM_000214.3(JAG1):c.2687G>T (p.Trp896Leu) rs1227203387 0.00001
NM_000214.3(JAG1):c.2739C>T (p.Ser913=) rs766479402 0.00001
NM_000214.3(JAG1):c.2779G>A (p.Val927Ile) rs770415804 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.3048+20A>G rs924322585 0.00001
NM_000214.3(JAG1):c.3127G>A (p.Asp1043Asn) rs1278689263 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.3291G>C (p.Arg1097=) rs1600177787 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.3524C>T (p.Ala1175Val) rs918046091 0.00001
NM_000214.3(JAG1):c.3530C>T (p.Thr1177Met) rs533237399 0.00001
NM_000214.3(JAG1):c.3538G>A (p.Asp1180Asn) rs1023698515 0.00001
NM_000214.3(JAG1):c.3560A>G (p.Asn1187Ser) rs755420729 0.00001
NM_000214.3(JAG1):c.3564C>T (p.Gly1188=) rs376816243 0.00001
NM_000214.3(JAG1):c.3573A>C (p.Thr1191=) rs762774678 0.00001
NM_000214.3(JAG1):c.440-22T>G rs776924226 0.00001
NM_000214.3(JAG1):c.448A>G (p.Ser150Gly) rs1229047867 0.00001
NM_000214.3(JAG1):c.573C>T (p.Tyr191=) rs766426780 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.722A>G (p.Lys241Arg) rs1405610551 0.00001
NM_000214.3(JAG1):c.830A>G (p.Asn277Ser) rs773901285 0.00001
NM_000214.3(JAG1):c.860A>G (p.Asn287Ser) rs768317581 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.994A>G (p.Asn332Asp) rs562158374 0.00001
NC_000020.11:g.10674180C>T rs140761913
NM_000214.2(JAG1):c.358dup (p.Ile120Asnfs) rs1555830922
NM_000214.3(JAG1):c.*1531TG[1] rs765273169
NM_000214.3(JAG1):c.*959GTTT[2] rs748163677
NM_000214.3(JAG1):c.-299AAG[1] rs147400796
NM_000214.3(JAG1):c.-386dup rs886056519
NM_000214.3(JAG1):c.-458C>T rs146416672
NM_000214.3(JAG1):c.-6_24del (p.Met1_Gly8del) rs863223661
NM_000214.3(JAG1):c.-75A>G rs1208905634
NM_000214.3(JAG1):c.1000G>A (p.Glu334Lys) rs2514521263
NM_000214.3(JAG1):c.1006+1G>A
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.1047dup (p.Ser350fs) rs863223670
NM_000214.3(JAG1):c.1056G>C (p.Lys352Asn) rs2514520747
NM_000214.3(JAG1):c.1082_1083del (p.Glu361fs) rs876661111
NM_000214.3(JAG1):c.1131C>A (p.Asp377Glu) rs2514519253
NM_000214.3(JAG1):c.1138_1140del (p.Pro380del) rs2067337055
NM_000214.3(JAG1):c.1156G>A (p.Gly386Arg) rs863223650
NM_000214.3(JAG1):c.1198_1199dup (p.Pro401fs) rs1555828843
NM_000214.3(JAG1):c.1205dup (p.Gln403fs) rs35615084
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.1228C>T (p.Gln410Ter) rs2122611488
NM_000214.3(JAG1):c.1264G>A (p.Val422Ile) rs763799026
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.1326G>T (p.Trp442Cys) rs794726974
NM_000214.3(JAG1):c.1339T>C (p.Cys447Arg) rs863223651
NM_000214.3(JAG1):c.1346_1347del (p.Ile449fs) rs1555828770
NM_000214.3(JAG1):c.1352T>A (p.Ile451Asn) rs1178459436
NM_000214.3(JAG1):c.1375C>A (p.Gln459Lys) rs1289016419
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.1395+81T>G rs2122609482
NM_000214.3(JAG1):c.1396-27TC[6] rs544547916
NM_000214.3(JAG1):c.1396-2A>G rs1568796298
NM_000214.3(JAG1):c.1396-82C>T rs45498692
NM_000214.3(JAG1):c.1427C>T (p.Pro476Leu) rs148448920
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.1473_1474del (p.Ala492fs) rs2514517223
NM_000214.3(JAG1):c.1485_1486del (p.Cys496fs) rs876660981
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) rs2514517188
NM_000214.3(JAG1):c.1509_1510del (p.Gln503_Asn504insTer) rs886039696
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.1569+68T>G rs34325313
NM_000214.3(JAG1):c.1570-73C>G rs56039205
NM_000214.3(JAG1):c.1615C>T (p.Gln539Ter) rs1555828577
NM_000214.3(JAG1):c.1657G>A (p.Glu553Lys) rs759763539
NM_000214.3(JAG1):c.1680C>A (p.Cys560Ter) rs886041868
NM_000214.3(JAG1):c.1689G>A (p.Leu563=) rs930662596
NM_000214.3(JAG1):c.1716_1717del (p.Cys572_Glu573delinsTer) rs876661126
NM_000214.3(JAG1):c.1720+172G>T rs143716483
NM_000214.3(JAG1):c.1720+1del rs886044349
NM_000214.3(JAG1):c.1721-223TG[2] rs3830831
NM_000214.3(JAG1):c.1732T>C (p.Cys578Arg)
NM_000214.3(JAG1):c.173_176del (p.Ala58fs) rs886043130
NM_000214.3(JAG1):c.1747G>A (p.Ala583Thr) rs1170183740
NM_000214.3(JAG1):c.1748C>T (p.Ala583Val) rs1568795311
NM_000214.3(JAG1):c.1755C>G (p.Asn585Lys) rs142808131
NM_000214.3(JAG1):c.1804C>A (p.His602Asn)
NM_000214.3(JAG1):c.181C>T (p.Pro61Ser)
NM_000214.3(JAG1):c.1850G>A (p.Cys617Tyr)
NM_000214.3(JAG1):c.1865C>A (p.Thr622Lys)
NM_000214.3(JAG1):c.1881T>C (p.His627=) rs2067313363
NM_000214.3(JAG1):c.1890del (p.Asn631fs) rs2514514531
NM_000214.3(JAG1):c.1899_1900del (p.Cys633_Glu634delinsTer) rs1555828321
NM_000214.3(JAG1):c.18G>C (p.Thr6=) rs576539291
NM_000214.3(JAG1):c.192dup (p.Lys65fs) rs863223666
NM_000214.3(JAG1):c.1946_1951delinsCTCC (p.Asn649fs) rs863223682
NM_000214.3(JAG1):c.1955dup (p.Cys653fs) rs2122604461
NM_000214.3(JAG1):c.197G>A (p.Cys66Tyr) rs767480908
NM_000214.3(JAG1):c.2000-190_2000-188dup rs55752058
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.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.2076C>A (p.Asp692Glu) rs2067301920
NM_000214.3(JAG1):c.2080A>T (p.Lys694Ter) rs876661142
NM_000214.3(JAG1):c.2096_2100del (p.Gly699fs) rs886039393
NM_000214.3(JAG1):c.2106C>A (p.Cys702Ter) rs863223680
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.2173dup (p.Asp725fs) rs1568794128
NM_000214.3(JAG1):c.2225_2226del (p.Ile742fs) rs1555828209
NM_000214.3(JAG1):c.2227+50G>C rs540429229
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.2257dup (p.Cys753fs) rs863223672
NM_000214.3(JAG1):c.2264A>G (p.Asn755Ser) rs2122602452
NM_000214.3(JAG1):c.2268_2270del (p.Gly757del) rs886043605
NM_000214.3(JAG1):c.2270dup (p.Thr758fs) rs886043605
NM_000214.3(JAG1):c.2288G>T (p.Gly763Val) rs2514512938
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.2322G>A (p.Trp774Ter) rs1555828173
NM_000214.3(JAG1):c.2336G>A (p.Cys779Tyr) rs2514512840
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.236_251del (p.Leu79fs) rs1600196426
NM_000214.3(JAG1):c.2370del (p.Cys791fs) rs886042050
NM_000214.3(JAG1):c.2372+15C>T rs748962378
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+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.23G>A (p.Gly8Asp) rs993238320
NM_000214.3(JAG1):c.2418C>A (p.Cys806Ter) rs533306015
NM_000214.3(JAG1):c.2418del (p.Cys806fs) rs876661165
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+124G>T rs2122600197
NM_000214.3(JAG1):c.2458+2_2458+5del rs1568793232
NM_000214.3(JAG1):c.2459-89T>G rs2122598806
NM_000214.3(JAG1):c.2465del (p.Asn822fs) rs863223673
NM_000214.3(JAG1):c.2522G>A (p.Gly841Asp) rs1568792702
NM_000214.3(JAG1):c.2525A>T (p.Tyr842Phe)
NM_000214.3(JAG1):c.2530_2552delinsGCACAT (p.Cys844fs) rs1600179847
NM_000214.3(JAG1):c.2538C>A (p.Cys846Ter) rs2122598522
NM_000214.3(JAG1):c.2566C>T (p.Gln856Ter) rs876661061
NM_000214.3(JAG1):c.2573-294C>A rs73075341
NM_000214.3(JAG1):c.2601_2603delinsTGATGCA (p.Ser868fs) rs1568792344
NM_000214.3(JAG1):c.2619_2620del (p.Ala874fs) rs863223674
NM_000214.3(JAG1):c.262G>A (p.Ala88Thr) rs1368255658
NM_000214.3(JAG1):c.2640del (p.Asp879_Cys880insTer) rs1085307595
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.2682G>A (p.Lys894=)
NM_000214.3(JAG1):c.2689_2693del (p.Cys897fs) rs1555827790
NM_000214.3(JAG1):c.2698C>T (p.Arg900Ter) rs1555827789
NM_000214.3(JAG1):c.269_270del (p.Gly90fs) rs863223667
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.270del (p.Cys92fs)
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.2750G>C (p.Cys917Ser) rs2514509237
NM_000214.3(JAG1):c.2801G>A (p.Gly934Asp) rs1568792060
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.2826G>A (p.Gln942=) rs760765525
NM_000214.3(JAG1):c.2830del (p.Pro943_Val944insTer) rs1555827760
NM_000214.3(JAG1):c.2858A>G (p.Tyr953Cys) rs2067271472
NM_000214.3(JAG1):c.2859T>C (p.Tyr953=) rs1388481192
NM_000214.3(JAG1):c.2916+18dup rs3215563
NM_000214.3(JAG1):c.2916+27del rs3215563
NM_000214.3(JAG1):c.2924_2925dup (p.Thr976fs) rs863223683
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.2966T>G (p.Leu989Trp)
NM_000214.3(JAG1):c.2966dup (p.Leu989fs) rs1555827729
NM_000214.3(JAG1):c.2968A>T (p.Lys990Ter) rs876661182
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.3008_3009dup (p.Pro1004fs) rs863223676
NM_000214.3(JAG1):c.3009_3025dup (p.Asn1009fs) rs1555827717
NM_000214.3(JAG1):c.301G>C (p.Val101Leu) rs1600196349
NM_000214.3(JAG1):c.3039dup (p.Val1014fs) rs2122595645
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.3062del (p.Ile1021fs) rs876661095
NM_000214.3(JAG1):c.3067del (p.Asp1023fs) rs863223677
NM_000214.3(JAG1):c.307G>C (p.Gly103Arg) rs749591256
NM_000214.3(JAG1):c.3097G>C (p.Asp1033His) rs772228887
NM_000214.3(JAG1):c.30del (p.Arg12fs) rs1568807483
NM_000214.3(JAG1):c.311del (p.Gly104fs) rs886041782
NM_000214.3(JAG1):c.3124C>A (p.Arg1042Ser)
NM_000214.3(JAG1):c.3125G>A (p.Arg1042His)
NM_000214.3(JAG1):c.3135C>A (p.Asn1045Lys)
NM_000214.3(JAG1):c.3148G>C (p.Ala1050Pro)
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.3164_3167del (p.Val1055fs) rs1555827653
NM_000214.3(JAG1):c.3165_3184del (p.Arg1056fs) rs1568791393
NM_000214.3(JAG1):c.3195A>C (p.Arg1065Ser) rs2067265121
NM_000214.3(JAG1):c.3213dup (p.Leu1073fs) rs1568791022
NM_000214.3(JAG1):c.322A>C (p.Asn108His) rs1242473299
NM_000214.3(JAG1):c.3230T>G (p.Leu1077Ter) rs2514506725
NM_000214.3(JAG1):c.3244A>G (p.Ile1082Val)
NM_000214.3(JAG1):c.3245_3257del (p.Ile1082fs) rs2067258421
NM_000214.3(JAG1):c.3289C>G (p.Arg1097Gly)
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.3318C>T (p.Ala1106=) rs751836991
NM_000214.3(JAG1):c.3351G>C (p.Glu1117Asp) rs1568790865
NM_000214.3(JAG1):c.349C>G (p.Arg117Gly) rs752608779
NM_000214.3(JAG1):c.349dup (p.Arg117fs) rs886041727
NM_000214.3(JAG1):c.3515A>G (p.Lys1172Arg) rs762897904
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.3531G>A (p.Thr1177=) rs778296544
NM_000214.3(JAG1):c.3557C>A (p.Pro1186His)
NM_000214.3(JAG1):c.3557C>T (p.Pro1186Leu) rs886357715
NM_000214.3(JAG1):c.3596_3599del (p.Lys1199fs)
NM_000214.3(JAG1):c.360C>G (p.Ile120Met)
NM_000214.3(JAG1):c.3637C>T (p.Arg1213Ter) rs769276255
NM_000214.3(JAG1):c.3648C>A (p.Tyr1216Ter) rs2514506063
NM_000214.3(JAG1):c.36C>A (p.Arg12=) rs886042810
NM_000214.3(JAG1):c.377_378delinsAA (p.Phe126Ter) rs886039724
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+1G>T rs2514537639
NM_000214.3(JAG1):c.387+2T>C rs1555830919
NM_000214.3(JAG1):c.388-10T>A rs1568803400
NM_000214.3(JAG1):c.390dup (p.Ser131fs) rs886044111
NM_000214.3(JAG1):c.391T>C (p.Ser131Pro) rs2514531180
NM_000214.3(JAG1):c.3G>A (p.Met1Ile) rs1555831014
NM_000214.3(JAG1):c.41del (p.Leu14fs) rs1568807463
NM_000214.3(JAG1):c.438_439+2del rs2122632102
NM_000214.3(JAG1):c.439+1G>A rs863223648
NM_000214.3(JAG1):c.439C>T (p.Gln147Ter) rs886043606
NM_000214.3(JAG1):c.440-3T>C rs1292445129
NM_000214.3(JAG1):c.459_460insT (p.Lys154Ter) rs1568801096
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.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.504G>A (p.Gln168=)
NM_000214.3(JAG1):c.51G>A (p.Leu17=) rs1018632242
NM_000214.3(JAG1):c.537dup (p.Glu180Ter) rs863223663
NM_000214.3(JAG1):c.544C>T (p.Gln182Ter) rs863223678
NM_000214.3(JAG1):c.546G>C (p.Gln182His) rs2122623700
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.571T>C (p.Tyr191His) rs2514526534
NM_000214.3(JAG1):c.587_588delinsT (p.Cys196fs) rs863223664
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.611A>G (p.Asp204Gly) rs2122623598
NM_000214.3(JAG1):c.620T>C (p.Phe207Ser)
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.62T>C (p.Leu21Pro) rs876660977
NM_000214.3(JAG1):c.648dup (p.Asn217fs) rs1131691963
NM_000214.3(JAG1):c.64T>C (p.Cys22Arg) rs1555831004
NM_000214.3(JAG1):c.664del (p.Glu222fs) rs863223665
NM_000214.3(JAG1):c.693_694del (p.Arg231fs) rs876660978
NM_000214.3(JAG1):c.694+1G>A rs876660979
NM_000214.3(JAG1):c.695-10dup rs762788344
NM_000214.3(JAG1):c.695-12T>A rs886039498
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.712T>C (p.Cys238Arg) rs2514524483
NM_000214.3(JAG1):c.755G>A (p.Arg252Lys) rs2514524403
NM_000214.3(JAG1):c.756-1G>T rs1568798388
NM_000214.3(JAG1):c.765C>G (p.Tyr255Ter) rs1131695
NM_000214.3(JAG1):c.771G>A (p.Trp257Ter) rs868134621
NM_000214.3(JAG1):c.776G>A (p.Gly259Asp) rs1568798363
NM_000214.3(JAG1):c.776G>T (p.Gly259Val) rs1568798363
NM_000214.3(JAG1):c.797del (p.Ile266fs) rs863223668
NM_000214.3(JAG1):c.7dup (p.Ser3fs) rs863223662
NM_000214.3(JAG1):c.805C>G (p.Pro269Ala)
NM_000214.3(JAG1):c.807G>C (p.Pro269=) rs753646278
NM_000214.3(JAG1):c.81+1G>A rs876661066
NM_000214.3(JAG1):c.813C>G (p.Cys271Trp) rs766245856
NM_000214.3(JAG1):c.82-161del rs33929314
NM_000214.3(JAG1):c.82-175dup rs33929314
NM_000214.3(JAG1):c.82-2A>G rs1568807161
NM_000214.3(JAG1):c.820G>A (p.Gly274Ser) rs2122615095
NM_000214.3(JAG1):c.827G>C (p.Cys276Ser)
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.863G>A (p.Trp288Ter) rs1064796702
NM_000214.3(JAG1):c.871C>T (p.Gln291Ter) rs876661096
NM_000214.3(JAG1):c.886+3A>G rs1555829065
NM_000214.3(JAG1):c.910C>T (p.Gln304Ter) rs863223649
NM_000214.3(JAG1):c.913C>T (p.Pro305Ser)
NM_000214.3(JAG1):c.929del (p.Gly310fs) rs1555829039
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.986C>A (p.Ser329Ter) rs1568798024
NM_000214.3(JAG1):c.992C>A (p.Pro331His) rs886044339
NM_000214.3(JAG1):c.998G>A (p.Cys333Tyr) rs2122614331
NM_000214.3(JAG1):c.99del (p.Gln34fs)

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