ClinVar Miner

List of variants in gene JAG1 reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1166
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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.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.3528C>T (p.Tyr1176=) rs1051421 0.22213
NM_000214.3(JAG1):c.588C>T (p.Cys196=) rs1801138 0.10620
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.744A>G (p.Pro248=) rs10485741 0.06947
NM_000214.3(JAG1):c.2612C>G (p.Pro871Arg) rs35761929 0.04795
NM_000214.3(JAG1):c.270G>T (p.Gly90=) rs114048678 0.02490
NM_000214.3(JAG1):c.924C>T (p.Asn308=) rs45575136 0.02367
NM_000214.3(JAG1):c.2766C>T (p.Asp922=) rs2229895 0.01701
NM_000214.3(JAG1):c.436G>A (p.Val146Ile) rs6040067 0.01238
NM_000214.3(JAG1):c.2227+17C>T rs115449289 0.00903
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.886+19A>T rs200311847 0.00226
NM_000214.3(JAG1):c.1007-16A>G rs201709907 0.00198
NM_000214.3(JAG1):c.2810G>A (p.Arg937Gln) rs145895196 0.00180
NM_000214.3(JAG1):c.2301G>A (p.Thr767=) rs147634857 0.00165
NM_000214.3(JAG1):c.909T>C (p.His303=) rs139574260 0.00121
NM_000214.3(JAG1):c.1120+10A>G rs201711717 0.00118
NM_000214.3(JAG1):c.2778C>T (p.Phe926=) rs147793030 0.00109
NM_000214.3(JAG1):c.1578C>T (p.Ile526=) rs1801139 0.00092
NM_000214.3(JAG1):c.439+10G>A rs201371037 0.00081
NM_000214.3(JAG1):c.1349-11T>G rs80338240 0.00076
NM_000214.3(JAG1):c.2231G>A (p.Arg744Gln) rs147809756 0.00069
NM_000214.3(JAG1):c.133G>T (p.Val45Leu) rs183974372 0.00054
NM_000214.3(JAG1):c.1389C>T (p.Ser463=) rs147229008 0.00050
NM_000214.3(JAG1):c.1755C>T (p.Asn585=) rs142808131 0.00045
NM_000214.3(JAG1):c.2329C>T (p.Pro777Ser) rs202063628 0.00044
NM_000214.3(JAG1):c.814G>A (p.Val272Ile) rs148990028 0.00041
NM_000214.3(JAG1):c.1920C>T (p.Asn640=) rs372121353 0.00040
NM_000214.3(JAG1):c.894T>C (p.Asn298=) rs149897344 0.00039
NM_000214.3(JAG1):c.2604T>C (p.Ser868=) rs138189639 0.00032
NM_000214.3(JAG1):c.82G>C (p.Val28Leu) rs142855305 0.00031
NM_000214.3(JAG1):c.2043G>A (p.Thr681=) rs151291264 0.00029
NM_000214.3(JAG1):c.2344+15C>G rs200139177 0.00029
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.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.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.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.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.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.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.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.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.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.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.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_000214.3(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.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.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.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.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.203G>C (p.Arg68Pro) rs892275570 0.00001
NM_000214.3(JAG1):c.2048G>A (p.Arg683His) rs200929472 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+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.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.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.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.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.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.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+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+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.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
NC_000020.10:g.(?_10653329)_(10654278_?)del
NC_000020.11:g.10641783dup rs2122597170
NM_000214.3(JAG1):c.1006+16T>A
NM_000214.3(JAG1):c.1007-12del
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.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.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.107del (p.Glu36fs)
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.1119A>G (p.Thr373=)
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.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.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.1209G>A (p.Gln403=)
NM_000214.3(JAG1):c.120G>C (p.Leu40=) rs1000010346
NM_000214.3(JAG1):c.1216G>A (p.Gly406Arg) rs2067336534
NM_000214.3(JAG1):c.1224G>T (p.Thr408=) rs771839716
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+3A>G
NM_000214.3(JAG1):c.1236T>A (p.Asp412Glu) rs1568796947
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.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.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.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.1306T>C (p.Cys436Arg) rs2122610484
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.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>T (p.Trp442Cys) rs794726974
NM_000214.3(JAG1):c.133G>A (p.Val45Met)
NM_000214.3(JAG1):c.1345A>G (p.Ile449Val) rs2122610344
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.1349-8dup 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.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.1370A>G (p.Gln457Arg)
NM_000214.3(JAG1):c.1375C>T (p.Gln459Ter) rs1289016419
NM_000214.3(JAG1):c.1386C>T (p.Ala462=)
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>G rs886044220
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.1396-3T>C
NM_000214.3(JAG1):c.1396-5dup
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.1426C>A (p.Pro476Thr)
NM_000214.3(JAG1):c.1427C>T (p.Pro476Leu)
NM_000214.3(JAG1):c.142G>T (p.Glu48Ter) rs1600196580
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.1448_1449del (p.His483fs) rs2122608890
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.1489_1490dup (p.Leu497fs) rs2122608790
NM_000214.3(JAG1):c.1517T>G (p.Ile506Ser)
NM_000214.3(JAG1):c.151A>G (p.Asn51Asp)
NM_000214.3(JAG1):c.153C>T (p.Asn51=) rs2067507683
NM_000214.3(JAG1):c.1540C>G (p.Pro514Ala)
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.1570-17G>T
NM_000214.3(JAG1):c.1570-3C>A
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.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.1616A>G (p.Gln539Arg)
NM_000214.3(JAG1):c.1627del (p.Arg543fs)
NM_000214.3(JAG1):c.1654C>G (p.Pro552Ala)
NM_000214.3(JAG1):c.1654C>T (p.Pro552Ser)
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>T (p.Cys55=) rs746259131
NM_000214.3(JAG1):c.1666G>T (p.Glu556Ter) rs2122607723
NM_000214.3(JAG1):c.1687del (p.His562_Leu563insTer) rs2122607689
NM_000214.3(JAG1):c.1693G>A (p.Asp565Asn)
NM_000214.3(JAG1):c.1696C>G (p.His566Asp) rs927278875
NM_000214.3(JAG1):c.1709C>T (p.Thr570Ile)
NM_000214.3(JAG1):c.1713dup (p.Cys572fs) rs1555828546
NM_000214.3(JAG1):c.1714T>C (p.Cys572Arg)
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+1G>C rs2122607604
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.1728C>T (p.Asp576=) rs756487397
NM_000214.3(JAG1):c.1737A>G (p.Thr579=)
NM_000214.3(JAG1):c.1739T>A (p.Val580Glu)
NM_000214.3(JAG1):c.1744A>G (p.Met582Val) rs2067314648
NM_000214.3(JAG1):c.174C>G (p.Ala58=)
NM_000214.3(JAG1):c.174C>T (p.Ala58=)
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.1806C>G (p.His602Gln)
NM_000214.3(JAG1):c.1822C>T (p.Gln608Ter)
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.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.1866G>C (p.Thr622=) rs140624746
NM_000214.3(JAG1):c.1868dup (p.Thr624fs) rs2122606128
NM_000214.3(JAG1):c.1872A>G (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.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.1914T>G (p.Cys638Trp) rs1261301855
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.1946A>G (p.Asn649Ser)
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.1963T>C (p.Cys655Arg)
NM_000214.3(JAG1):c.1977G>A (p.Trp659Ter) rs1600182107
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.200C>G (p.Thr67Ser)
NM_000214.3(JAG1):c.2024C>T (p.Pro675Leu)
NM_000214.3(JAG1):c.2030A>C (p.His677Pro)
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.2072G>A (p.Cys691Tyr) rs1555828246
NM_000214.3(JAG1):c.2077T>C (p.Cys693Arg) rs1568794319
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.2087G>C (p.Gly696Ala) rs780243244
NM_000214.3(JAG1):c.2088G>A (p.Gly696=)
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.2113+16C>A
NM_000214.3(JAG1):c.2113+16C>T rs2067301201
NM_000214.3(JAG1):c.2113+5G>A 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.2115T>C (p.Arg705=) rs2122603103
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.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.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.2217C>T (p.Thr739=)
NM_000214.3(JAG1):c.2227+14C>A rs936598165
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.2230C>T (p.Arg744Ter) rs863223655
NM_000214.3(JAG1):c.2237G>A (p.Ser746Asn) rs2122602515
NM_000214.3(JAG1):c.2247G>C (p.Leu749=)
NM_000214.3(JAG1):c.2247G>T (p.Leu749=) rs982976067
NM_000214.3(JAG1):c.2254C>G (p.Pro752Ala)
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.2270G>A (p.Gly757Asp)
NM_000214.3(JAG1):c.2274_2275del (p.Val760fs)
NM_000214.3(JAG1):c.2280G>T (p.Val760=)
NM_000214.3(JAG1):c.2283C>T (p.Val761=)
NM_000214.3(JAG1):c.2295C>G (p.Ser765=)
NM_000214.3(JAG1):c.2304C>A (p.Cys768Ter) rs755427292
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.2329C>A (p.Pro777Thr)
NM_000214.3(JAG1):c.2334C>T (p.Ile778=) rs1270085831
NM_000214.3(JAG1):c.2341C>T (p.Gln781Ter)
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.2345-8_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>T (p.Cys786=) rs1189479619
NM_000214.3(JAG1):c.2372+13T>C
NM_000214.3(JAG1):c.2372+15C>A
NM_000214.3(JAG1):c.2372+3_2372+6del rs2067293629
NM_000214.3(JAG1):c.2372+7G>A
NM_000214.3(JAG1):c.2382C>A (p.Ser794Arg) rs56225585
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.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.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.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+2T>G rs2122600427
NM_000214.3(JAG1):c.2458+4A>C rs2122600423
NM_000214.3(JAG1):c.2459-12C>T
NM_000214.3(JAG1):c.2459-15del
NM_000214.3(JAG1):c.245A>G (p.Tyr82Cys)
NM_000214.3(JAG1):c.2473C>T (p.Gln825Ter) rs1437309558
NM_000214.3(JAG1):c.2505T>A (p.Cys835Ter)
NM_000214.3(JAG1):c.2507_2508del (p.Val836fs) rs1600179892
NM_000214.3(JAG1):c.2529G>T (p.Arg843=)
NM_000214.3(JAG1):c.2532T>A (p.Cys844Ter) rs1600179855
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.2565C>T (p.Cys855=) rs1230847690
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.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.2595dup (p.Met866fs)
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.2620G>A (p.Ala874Thr)
NM_000214.3(JAG1):c.2627G>A (p.Trp876Ter) rs2122597289
NM_000214.3(JAG1):c.2629dup (p.Asp877fs) rs2067274453
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.2639_2640del (p.Asp879_Cys880insTer) rs1568792286
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.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.2682+18_2682+31del
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.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.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.2709G>A (p.Leu903=)
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.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.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.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.2805G>A (p.Glu935=) rs1568792051
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.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.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.2904G>C (p.Glu968Asp)
NM_000214.3(JAG1):c.2910G>A (p.Met970Ile) rs2067271012
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+1G>C rs1568791920
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.2926A>G (p.Thr976Ala)
NM_000214.3(JAG1):c.292T>C (p.Ser98Pro) rs1333355200
NM_000214.3(JAG1):c.2932C>T (p.His978Tyr)
NM_000214.3(JAG1):c.294C>G (p.Ser98=) rs79338570
NM_000214.3(JAG1):c.294C>T (p.Ser98=) rs79338570
NM_000214.3(JAG1):c.2966dup (p.Leu989fs) rs1555827729
NM_000214.3(JAG1):c.2972A>C (p.Asn991Thr)
NM_000214.3(JAG1):c.2973T>C (p.Asn991=) rs1317729135
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.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.3002C>T (p.Ala1001Val) rs2122595760
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.3007_3017dup (p.Ala1008fs) rs1600178720
NM_000214.3(JAG1):c.3008_3012dup (p.Pro1006fs) rs1600178730
NM_000214.3(JAG1):c.3009G>A (p.Glu1003=)
NM_000214.3(JAG1):c.3016C>T (p.Pro1006Ser) rs2122595723
NM_000214.3(JAG1):c.3017C>G (p.Pro1006Arg)
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.3048+1G>A rs876661121
NM_000214.3(JAG1):c.3048+2T>A
NM_000214.3(JAG1):c.3049-2A>G rs2122595262
NM_000214.3(JAG1):c.3057dup (p.Asp1020fs)
NM_000214.3(JAG1):c.3062T>C (p.Ile1021Thr) rs1736644803
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.3084C>A (p.Ile1028=) rs2122595186
NM_000214.3(JAG1):c.3097G>A (p.Asp1033Asn)
NM_000214.3(JAG1):c.3099C>G (p.Asp1033Glu)
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.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>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.3157G>A (p.Ala1053Thr) rs2067265410
NM_000214.3(JAG1):c.3164_3167del (p.Val1055fs) rs1555827653
NM_000214.3(JAG1):c.3164dup (p.Arg1056fs) rs2122595010
NM_000214.3(JAG1):c.3169G>C (p.Val1057Leu)
NM_000214.3(JAG1):c.3170T>C (p.Val1057Ala) rs2122594991
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.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.3228C>T (p.Val1076=)
NM_000214.3(JAG1):c.322A>C (p.Asn108His) rs1242473299
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.3255G>C (p.Leu1085Phe)
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.3302G>A (p.Ser1101Asn)
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.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.3353_3354delinsCC (p.Gln1118Pro) rs2122593353
NM_000214.3(JAG1):c.3360C>T (p.Asn1120=) rs1157149628
NM_000214.3(JAG1):c.3377T>C (p.Ile1126Thr)
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.343A>G (p.Asn115Asp) rs2122644398
NM_000214.3(JAG1):c.3455A>C (p.His1152Pro)
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.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.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.3540C>T (p.Asp1180=) rs963076704
NM_000214.3(JAG1):c.3544G>A (p.Glu1182Lys) rs1479790705
NM_000214.3(JAG1):c.3554C>T (p.Pro1185Leu)
NM_000214.3(JAG1):c.3557C>G (p.Pro1186Arg) rs886357715
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.3569C>T (p.Pro1190Leu)
NM_000214.3(JAG1):c.3577C>T (p.His1193Tyr)
NM_000214.3(JAG1):c.3586T>G (p.Trp1196Gly)
NM_000214.3(JAG1):c.3589A>G (p.Thr1197Ala) rs776209860
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.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.3649A>C (p.Ile1217Leu)
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.373A>G (p.Ser125Gly)
NM_000214.3(JAG1):c.375T>G (p.Ser125Arg) rs2067505361
NM_000214.3(JAG1):c.379G>A (p.Ala127Thr) rs930247415
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.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.390dup (p.Ser131fs) rs886044111
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.408_409dup (p.Glu137fs) rs2067434779
NM_000214.3(JAG1):c.415T>G (p.Trp139Gly)
NM_000214.3(JAG1):c.422C>A (p.Ser141Tyr)
NM_000214.3(JAG1):c.425G>A (p.Ser142Asn) rs1436395839
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.442C>T (p.Pro148Ser) rs1355919795
NM_000214.3(JAG1):c.443del (p.Pro148fs)
NM_000214.3(JAG1):c.463G>C (p.Ala155Pro)
NM_000214.3(JAG1):c.468T>C (p.Ser156=) rs2122623838
NM_000214.3(JAG1):c.473C>T (p.Ser158Leu)
NM_000214.3(JAG1):c.487C>T (p.Pro163Ser) rs2067394475
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.499T>C (p.Trp167Arg) rs2067394353
NM_000214.3(JAG1):c.4C>T (p.Arg2Cys)
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.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.543T>A (p.Tyr181Ter) rs1060501351
NM_000214.3(JAG1):c.545A>G (p.Gln182Arg)
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.566A>G (p.Asp189Gly)
NM_000214.3(JAG1):c.568T>G (p.Tyr190Asp) rs1242543124
NM_000214.3(JAG1):c.575A>G (p.Tyr192Cys) rs2067393579
NM_000214.3(JAG1):c.578del (p.Gly193fs) rs2067393549
NM_000214.3(JAG1):c.590A>C (p.Asn197Thr)
NM_000214.3(JAG1):c.590A>G (p.Asn197Ser) rs2122623617
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.61C>G (p.Leu21Val)
NM_000214.3(JAG1):c.622G>T (p.Gly208Ter) rs2122623590
NM_000214.3(JAG1):c.627C>A (p.His209Gln)
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.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.650A>G (p.Asn217Ser)
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.665A>G (p.Glu222Gly)
NM_000214.3(JAG1):c.677G>A (p.Gly226Asp)
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+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.695-10dup rs762788344
NM_000214.3(JAG1):c.695-5del rs762788344
NM_000214.3(JAG1):c.700T>A (p.Cys234Ser) rs1555829415
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.715dup (p.Ser239fs)
NM_000214.3(JAG1):c.716G>A (p.Ser239Asn) rs2067379682
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.755+13G>A
NM_000214.3(JAG1):c.755+18T>C
NM_000214.3(JAG1):c.755+9del rs2122620228
NM_000214.3(JAG1):c.756-16T>C
NM_000214.3(JAG1):c.756-1G>C rs1568798388
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.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.779T>C (p.Leu260Pro)
NM_000214.3(JAG1):c.783C>G (p.Tyr261Ter) rs2122615158
NM_000214.3(JAG1):c.785G>A (p.Cys262Tyr)
NM_000214.3(JAG1):c.793T>G (p.Cys265Gly)
NM_000214.3(JAG1):c.795C>A (p.Cys265Ter)
NM_000214.3(JAG1):c.798C>T (p.Ile266=) rs2122615138
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+8C>A
NM_000214.3(JAG1):c.813C>T (p.Cys271=)
NM_000214.3(JAG1):c.815T>A (p.Val272Asp)
NM_000214.3(JAG1):c.82-16C>T
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.82-5G>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.831T>C (p.Asn277=) rs2122615074
NM_000214.3(JAG1):c.838T>G (p.Trp280Gly)
NM_000214.3(JAG1):c.841C>T (p.Gln281Ter) rs886043603
NM_000214.3(JAG1):c.850T>C (p.Cys284Arg)
NM_000214.3(JAG1):c.851G>T (p.Cys284Phe) rs1555829067
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+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.910C>T (p.Gln304Ter) rs863223649
NM_000214.3(JAG1):c.920T>C (p.Leu307Pro)
NM_000214.3(JAG1):c.925G>C (p.Gly309Arg) rs750195672
NM_000214.3(JAG1):c.927G>A (p.Gly309=)
NM_000214.3(JAG1):c.927G>T (p.Gly309=)
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.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.98G>T (p.Gly33Val) rs2122644925
NM_000214.3(JAG1):c.994A>T (p.Asn332Tyr)

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