ClinVar Miner

List of variants in gene JAG1

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Gene type:
ClinVar version:
Total variants: 477
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HGVS dbSNP
GRCh37/hg19 20p12.2(chr20:10639152-10639516)x1
JAG1, 1-BP INS, 684G
JAG1, 1329, T-G, +2
NC_000020.10:g.(?_10620126)_(10620623_?)del
NC_000020.11:g.10663962C>T
NC_000020.11:g.10664018C>G
NM_000214.2(JAG1):c.1234+21_1234+22delGT rs778949148
NM_000214.2(JAG1):c.1720+1delG rs886044349
NM_000214.2(JAG1):c.2096_2100delGAAAG (p.Gly699Aspfs) rs886039393
NM_000214.2(JAG1):c.2916+27delT rs3215563
NM_000214.2(JAG1):c.3048+30_3048+32delATT rs759022807
NM_000214.2(JAG1):c.358dup (p.Ile120Asnfs) rs1555830922
NM_000214.2(JAG1):c.388-11_388-8delTTGT rs750004416
NM_000214.2(JAG1):c.693_694delAG (p.Arg231Serfs) rs876660978
NM_000214.3(JAG1):c.*1084G>C rs148175963
NM_000214.3(JAG1):c.*1093_*1097del rs886056509
NM_000214.3(JAG1):c.*1132T>G rs7828
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.*1224G>A rs886056506
NM_000214.3(JAG1):c.*1493A>G rs78471165
NM_000214.3(JAG1):c.*1511dup rs571057258
NM_000214.3(JAG1):c.*1531_*1532TG[1] rs765273169
NM_000214.3(JAG1):c.*1572A>G rs8708
NM_000214.3(JAG1):c.*1637A>G rs886056505
NM_000214.3(JAG1):c.*21C>T rs554327524
NM_000214.3(JAG1):c.*253C>T rs780887274
NM_000214.3(JAG1):c.*297C>T rs575525743
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.*619C>T rs146144464
NM_000214.3(JAG1):c.*641C>A rs866626696
NM_000214.3(JAG1):c.*644_*646AAT[1] rs572952606
NM_000214.3(JAG1):c.*6C>T rs376881523
NM_000214.3(JAG1):c.*756A>G rs45534738
NM_000214.3(JAG1):c.*7G>A
NM_000214.3(JAG1):c.*856dup rs3840074
NM_000214.3(JAG1):c.*914G>A rs111277443
NM_000214.3(JAG1):c.*959_*962GTTT[2] rs748163677
NM_000214.3(JAG1):c.*970T>C rs886056510
NM_000214.3(JAG1):c.*9G>A
NM_000214.3(JAG1):c.-105C>G rs886056515
NM_000214.3(JAG1):c.-129C>T rs886056516
NM_000214.3(JAG1):c.-27C>G rs886056513
NM_000214.3(JAG1):c.-299_-297AAG[1] rs147400796
NM_000214.3(JAG1):c.-364T>G rs886056517
NM_000214.3(JAG1):c.-375dup rs201660680
NM_000214.3(JAG1):c.-384T>G rs559044448
NM_000214.3(JAG1):c.-385T>G rs1051412
NM_000214.3(JAG1):c.-386dup rs886056519
NM_000214.3(JAG1):c.-42G>T rs374222937
NM_000214.3(JAG1):c.-433G>A rs73611723
NM_000214.3(JAG1):c.-482G>A rs886056520
NM_000214.3(JAG1):c.-483C>T rs867504722
NM_000214.3(JAG1):c.-507G>A rs747888489
NM_000214.3(JAG1):c.-514G>C rs533596136
NM_000214.3(JAG1):c.-528C>A rs191409481
NM_000214.3(JAG1):c.-6_24del (p.Met1_Gly8del) rs863223661
NM_000214.3(JAG1):c.-73G>C rs886056514
NM_000214.3(JAG1):c.-75_-61dup rs1555831023
NM_000214.3(JAG1):c.1006+7G>C
NM_000214.3(JAG1):c.1007-16A>G rs201709907
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.1043G>A (p.Arg348Lys) rs200227737
NM_000214.3(JAG1):c.1047dup (p.Ser350fs) rs863223670
NM_000214.3(JAG1):c.1057G>T (p.Glu353Ter)
NM_000214.3(JAG1):c.105C>T (p.Phe35=) rs765442930
NM_000214.3(JAG1):c.1062C>T (p.Thr354=) rs201234509
NM_000214.3(JAG1):c.1082_1083del (p.Glu361fs) rs876661111
NM_000214.3(JAG1):c.1101C>T (p.Thr367=) rs766771784
NM_000214.3(JAG1):c.110T>C (p.Leu37Ser) rs121918352
NM_000214.3(JAG1):c.1110A>G (p.Thr370=) rs538048082
NM_000214.3(JAG1):c.1117A>G (p.Thr373Ala) rs1212026437
NM_000214.3(JAG1):c.1120+10A>G rs201711717
NM_000214.3(JAG1):c.1146C>T (p.Asn382=) rs200133928
NM_000214.3(JAG1):c.1156G>A (p.Gly386Arg) rs863223650
NM_000214.3(JAG1):c.1192_1193TG[5] (p.Pro401fs) rs1555828843
NM_000214.3(JAG1):c.1195G>A (p.Val399Met) rs181970528
NM_000214.3(JAG1):c.11C>T (p.Pro4Leu) rs1568807505
NM_000214.3(JAG1):c.1205dup (p.Gln403fs) rs35615084
NM_000214.3(JAG1):c.1207C>T (p.Gln403Ter) rs794727953
NM_000214.3(JAG1):c.1214C>G (p.Thr405Ser) rs1237367300
NM_000214.3(JAG1):c.1218_1219insGA (p.Lys407fs) rs886044604
NM_000214.3(JAG1):c.1307G>A (p.Cys436Tyr) rs1568796900
NM_000214.3(JAG1):c.1308C>T (p.Cys436=) rs764485729
NM_000214.3(JAG1):c.1309G>A (p.Asp437Asn)
NM_000214.3(JAG1):c.1313G>A (p.Cys438Tyr)
NM_000214.3(JAG1):c.1318C>T (p.Pro440Ser)
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.1335G>A (p.Gln445=) rs759545669
NM_000214.3(JAG1):c.1339T>C (p.Cys447Arg) rs863223651
NM_000214.3(JAG1):c.133G>T (p.Val45Leu) rs183974372
NM_000214.3(JAG1):c.1344C>T (p.Asp448=) rs754081766
NM_000214.3(JAG1):c.1346_1347del (p.Ile449fs) rs1555828770
NM_000214.3(JAG1):c.1348+3G>A
NM_000214.3(JAG1):c.1349-11T>G rs80338240
NM_000214.3(JAG1):c.1349-16C>G rs1057523387
NM_000214.3(JAG1):c.1352T>A (p.Ile451Asn) rs1178459436
NM_000214.3(JAG1):c.1353dup (p.Asn452Ter) rs1060501347
NM_000214.3(JAG1):c.1365T>G (p.Leu455=) rs376346902
NM_000214.3(JAG1):c.1367G>A (p.Gly456Asp)
NM_000214.3(JAG1):c.1375C>A (p.Gln459Lys) rs1289016419
NM_000214.3(JAG1):c.1375C>T (p.Gln459Ter)
NM_000214.3(JAG1):c.1384G>A (p.Ala462Thr) rs201667840
NM_000214.3(JAG1):c.1389C>T (p.Ser463=) rs147229008
NM_000214.3(JAG1):c.1393C>T (p.Arg465Trp)
NM_000214.3(JAG1):c.1394G>A (p.Arg465Gln)
NM_000214.3(JAG1):c.1395+3A>C rs886044220
NM_000214.3(JAG1):c.1395+3A>G rs886044220
NM_000214.3(JAG1):c.1395+5_1395+7delinsATG rs1568796544
NM_000214.3(JAG1):c.1396-2A>G rs1568796298
NM_000214.3(JAG1):c.139_159del (p.Gly47_Asn53del)
NM_000214.3(JAG1):c.1415G>A (p.Arg472His) rs574349599
NM_000214.3(JAG1):c.142G>T (p.Glu48Ter)
NM_000214.3(JAG1):c.1430C>T (p.Pro477Leu) rs1555828655
NM_000214.3(JAG1):c.1439C>T (p.Ala480Val) rs149366993
NM_000214.3(JAG1):c.1443C>T (p.Gly481=)
NM_000214.3(JAG1):c.1446_1448delinsC (p.His483fs) rs1568796241
NM_000214.3(JAG1):c.1450_1451TG[1] (p.Cys484_Glu485delinsTer) rs1568796236
NM_000214.3(JAG1):c.1459_1460insGA (p.Asp487fs) rs1555828652
NM_000214.3(JAG1):c.1464C>T (p.Ile488=) rs374629171
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.1509_1510del (p.Gln503_Asn504insTer) rs886039696
NM_000214.3(JAG1):c.1511A>G (p.Asn504Ser) rs527236046
NM_000214.3(JAG1):c.1522dup (p.Arg508fs) rs1555828640
NM_000214.3(JAG1):c.1527C>A (p.Phe509Leu)
NM_000214.3(JAG1):c.1528C>T (p.Gln510Ter) rs1568796158
NM_000214.3(JAG1):c.1537T>C (p.Cys513Arg) rs1568796126
NM_000214.3(JAG1):c.1556G>C (p.Gly519Ala)
NM_000214.3(JAG1):c.1570-28C>G rs144983462
NM_000214.3(JAG1):c.1575C>T (p.Asp525=) rs1555828589
NM_000214.3(JAG1):c.1578C>T (p.Ile526=) rs1801139
NM_000214.3(JAG1):c.1609G>A (p.Gly537Ser) rs756787187
NM_000214.3(JAG1):c.1615C>T (p.Gln539Ter) rs1555828577
NM_000214.3(JAG1):c.1627C>T (p.Arg543Cys) rs375017114
NM_000214.3(JAG1):c.1628G>A (p.Arg543His) rs544877858
NM_000214.3(JAG1):c.1655C>T (p.Pro552Leu) rs201785359
NM_000214.3(JAG1):c.1656del (p.Glu553fs) rs1568795820
NM_000214.3(JAG1):c.1680C>A (p.Cys560Ter) rs886041868
NM_000214.3(JAG1):c.1689G>A (p.Leu563=)
NM_000214.3(JAG1):c.1704C>T (p.Arg568=)
NM_000214.3(JAG1):c.1713dup (p.Cys572fs) rs1555828546
NM_000214.3(JAG1):c.1714_1715TG[1] (p.Cys572_Glu573delinsTer) rs876661126
NM_000214.3(JAG1):c.1720+3A>G rs1555828541
NM_000214.3(JAG1):c.1720+5C>T rs757230587
NM_000214.3(JAG1):c.1721-15A>G rs753524030
NM_000214.3(JAG1):c.173_176del (p.Ala58fs) rs886043130
NM_000214.3(JAG1):c.1748C>T (p.Ala583Val) rs1568795311
NM_000214.3(JAG1):c.1755C>T (p.Asn585=) rs142808131
NM_000214.3(JAG1):c.1794C>G (p.Val598=) rs200580391
NM_000214.3(JAG1):c.1806C>T (p.His602=)
NM_000214.3(JAG1):c.1826C>T (p.Ser609Leu) rs199505265
NM_000214.3(JAG1):c.1856_1857del (p.Lys619fs)
NM_000214.3(JAG1):c.1865C>T (p.Thr622Met)
NM_000214.3(JAG1):c.1866G>A (p.Thr622=) rs140624746
NM_000214.3(JAG1):c.1897_1898TG[1] (p.Cys633_Glu634delinsTer) rs1555828321
NM_000214.3(JAG1):c.1914T>G (p.Cys638Trp) rs1261301855
NM_000214.3(JAG1):c.1920C>T (p.Asn640=) rs372121353
NM_000214.3(JAG1):c.192dup (p.Lys65fs) rs863223666
NM_000214.3(JAG1):c.1946_1951delinsCTCC (p.Asn649fs) rs863223682
NM_000214.3(JAG1):c.1971C>T (p.Asp657=)
NM_000214.3(JAG1):c.1977G>A (p.Trp659Ter)
NM_000214.3(JAG1):c.197G>A (p.Cys66Tyr)
NM_000214.3(JAG1):c.19C>T (p.Arg7Cys) rs563232654
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.2043G>A (p.Thr681=) rs151291264
NM_000214.3(JAG1):c.2045G>A (p.Cys682Tyr) rs876661229
NM_000214.3(JAG1):c.204C>T (p.Arg68=) rs565407240
NM_000214.3(JAG1):c.2073T>C (p.Cys691=) rs200648035
NM_000214.3(JAG1):c.2077T>C (p.Cys693Arg) rs1568794319
NM_000214.3(JAG1):c.2080A>T (p.Lys694Ter) rs876661142
NM_000214.3(JAG1):c.2092_2093insG (p.Lys698fs)
NM_000214.3(JAG1):c.2096_2100del rs886039393
NM_000214.3(JAG1):c.2106C>A (p.Cys702Ter) rs863223680
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.2118_2119del (p.Asp706fs) rs1568794159
NM_000214.3(JAG1):c.2118_2121CAGT[1] (p.Gln708fs) rs727504412
NM_000214.3(JAG1):c.2122C>T (p.Gln708Ter) rs886044136
NM_000214.3(JAG1):c.2148C>T (p.Asn716=)
NM_000214.3(JAG1):c.2173dup (p.Asp725fs) rs1568794128
NM_000214.3(JAG1):c.2199C>T (p.Gly733=) rs756062969
NM_000214.3(JAG1):c.2214A>C (p.Thr738=) rs1801140
NM_000214.3(JAG1):c.2225_2226del (p.Ile742fs) rs1555828209
NM_000214.3(JAG1):c.2227+9A>G
NM_000214.3(JAG1):c.222C>T (p.Tyr74=)
NM_000214.3(JAG1):c.2230C>T (p.Arg744Ter) rs863223655
NM_000214.3(JAG1):c.2231G>A (p.Arg744Gln) rs147809756
NM_000214.3(JAG1):c.2257dup (p.Cys753fs) rs863223672
NM_000214.3(JAG1):c.225C>A (p.Phe75Leu)
NM_000214.3(JAG1):c.2270dup (p.Thr758fs) rs886043605
NM_000214.3(JAG1):c.2286C>T (p.Asn762=) rs144190443
NM_000214.3(JAG1):c.2298T>C (p.Phe766=) rs771544217
NM_000214.3(JAG1):c.2300C>T (p.Thr767Met) rs140330283
NM_000214.3(JAG1):c.2301G>A (p.Thr767=) rs147634857
NM_000214.3(JAG1):c.2304C>A (p.Cys768Ter) rs755427292
NM_000214.3(JAG1):c.2304C>T (p.Cys768=)
NM_000214.3(JAG1):c.2305G>A (p.Val769Ile) rs754301929
NM_000214.3(JAG1):c.2310C>A (p.Cys770Ter) rs886043904
NM_000214.3(JAG1):c.2312A>G (p.Lys771Arg) rs149949294
NM_000214.3(JAG1):c.2322G>A (p.Trp774Ter) rs1555828173
NM_000214.3(JAG1):c.2329C>T (p.Pro777Ser) rs202063628
NM_000214.3(JAG1):c.233G>A (p.Cys78Tyr) rs1555830957
NM_000214.3(JAG1):c.2342dup (p.Asn782fs) rs886039887
NM_000214.3(JAG1):c.2344+15C>G rs200139177
NM_000214.3(JAG1):c.2345-1G>A rs1568793670
NM_000214.3(JAG1):c.2345-8_2345-6del rs1396652277
NM_000214.3(JAG1):c.2350A>G (p.Asn784Asp)
NM_000214.3(JAG1):c.2370del (p.Cys791fs) rs886042050
NM_000214.3(JAG1):c.2382C>T (p.Ser794=) rs56225585
NM_000214.3(JAG1):c.2383G>A (p.Gly795Ser)
NM_000214.3(JAG1):c.2385del (p.Thr796fs) rs1568793309
NM_000214.3(JAG1):c.238A>T (p.Lys80Ter)
NM_000214.3(JAG1):c.2393T>A (p.Val798Glu) rs1308346607
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.2429C>T (p.Pro810Leu) rs769531968
NM_000214.3(JAG1):c.2445C>T (p.Pro815=) rs777122869
NM_000214.3(JAG1):c.2451C>T (p.Cys817=) rs747532570
NM_000214.3(JAG1):c.2458+10G>C
NM_000214.3(JAG1):c.2458+2_2458+5del rs1568793232
NM_000214.3(JAG1):c.2458+30A>G rs2273059
NM_000214.3(JAG1):c.2459-17A>C rs35891274
NM_000214.3(JAG1):c.2465del (p.Asn822fs) rs863223673
NM_000214.3(JAG1):c.2473C>T (p.Gln825Ter) rs1437309558
NM_000214.3(JAG1):c.248A>G (p.Gln83Arg)
NM_000214.3(JAG1):c.2498C>T (p.Ala833Val) rs141292792
NM_000214.3(JAG1):c.2502C>T (p.Thr834=) rs779052259
NM_000214.3(JAG1):c.2503_2504TG[2] (p.Val836fs)
NM_000214.3(JAG1):c.2522G>A (p.Gly841Asp) rs1568792702
NM_000214.3(JAG1):c.2530_2552delinsGCACAT (p.Cys844fs)
NM_000214.3(JAG1):c.2532T>A (p.Cys844Ter)
NM_000214.3(JAG1):c.2559C>T (p.Ala853=) rs201234393
NM_000214.3(JAG1):c.2566C>T (p.Gln856Ter) rs876661061
NM_000214.3(JAG1):c.2573-16C>T rs112196689
NM_000214.3(JAG1):c.2590A>G (p.Ile864Val) rs142742183
NM_000214.3(JAG1):c.2601_2603delinsTGATGCA (p.Ser868fs) rs1568792344
NM_000214.3(JAG1):c.2604T>C (p.Ser868=) rs138189639
NM_000214.3(JAG1):c.2612C>G (p.Pro871Arg) rs35761929
NM_000214.3(JAG1):c.2619_2620del (p.Ala874fs) rs863223674
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.2653T>C (p.Cys885Arg) rs1568792271
NM_000214.3(JAG1):c.2666G>A (p.Arg889Gln) rs149419694
NM_000214.3(JAG1):c.2671G>A (p.Ala891Thr) rs1454234098
NM_000214.3(JAG1):c.267G>A (p.Gly89=) rs1051415
NM_000214.3(JAG1):c.2682+1G>T rs1568792238
NM_000214.3(JAG1):c.2682+8A>G rs560065330
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.2698C>T (p.Arg900Ter)
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.270G>T (p.Gly90=) rs114048678
NM_000214.3(JAG1):c.270dup (p.Pro91fs) rs863223667
NM_000214.3(JAG1):c.2724C>T (p.His908=) rs765884543
NM_000214.3(JAG1):c.2727_2728dup (p.Glu910fs) rs1568792147
NM_000214.3(JAG1):c.2728G>A (p.Glu910Lys) rs368734792
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.2739C>T (p.Ser913=) rs766479402
NM_000214.3(JAG1):c.2743C>T (p.Gln915Ter) rs1568792125
NM_000214.3(JAG1):c.2766C>T (p.Asp922=) rs2229895
NM_000214.3(JAG1):c.2774_2788delinsCCAGGGCA (p.Cys925fs) rs1555827769
NM_000214.3(JAG1):c.2778C>T (p.Phe926=) rs147793030
NM_000214.3(JAG1):c.2779G>A (p.Val927Ile)
NM_000214.3(JAG1):c.2781C>T (p.Val927=) rs746664646
NM_000214.3(JAG1):c.2801G>A (p.Gly934Asp) rs1568792060
NM_000214.3(JAG1):c.2805G>A (p.Glu935=) rs1568792051
NM_000214.3(JAG1):c.2807G>A (p.Cys936Tyr) rs1568792050
NM_000214.3(JAG1):c.2810G>A (p.Arg937Gln) rs145895196
NM_000214.3(JAG1):c.2827C>T (p.Pro943Ser) rs760332763
NM_000214.3(JAG1):c.282C>T (p.Phe94=) rs772592163
NM_000214.3(JAG1):c.2830del (p.Pro943_Val944insTer) rs1555827760
NM_000214.3(JAG1):c.2840del (p.Lys947fs) rs1060501349
NM_000214.3(JAG1):c.2844C>A (p.Cys948Ter) rs1060501352
NM_000214.3(JAG1):c.2859T>C (p.Tyr953=) rs1388481192
NM_000214.3(JAG1):c.2877G>A (p.Ala959=)
NM_000214.3(JAG1):c.2895dup (p.Asn966Ter) rs878853752
NM_000214.3(JAG1):c.2916+1G>C rs1568791920
NM_000214.3(JAG1):c.2917-30A>G rs6108652
NM_000214.3(JAG1):c.2917-7G>A rs201573066
NM_000214.3(JAG1):c.2924_2925dup (p.Thr976fs) rs863223683
NM_000214.3(JAG1):c.2927C>T (p.Thr976Met) rs751809412
NM_000214.3(JAG1):c.2948del (p.Glu982_Leu983insTer) rs863223675
NM_000214.3(JAG1):c.294C>G (p.Ser98=)
NM_000214.3(JAG1):c.294C>T (p.Ser98=) rs79338570
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.2998A>G (p.Ile1000Val)
NM_000214.3(JAG1):c.3001G>A (p.Ala1001Thr)
NM_000214.3(JAG1):c.3006C>A (p.Cys1002Ter) rs372984801
NM_000214.3(JAG1):c.3006C>T (p.Cys1002=)
NM_000214.3(JAG1):c.3007_3013dup (p.Ser1005Ter) rs1568791694
NM_000214.3(JAG1):c.3007_3017dup (p.Ala1008fs) rs1568791692
NM_000214.3(JAG1):c.3008_3009dup (p.Pro1004fs) rs863223676
NM_000214.3(JAG1):c.3008_3012dup (p.Pro1006fs)
NM_000214.3(JAG1):c.3009_3025dup (p.Asn1009fs) rs1555827717
NM_000214.3(JAG1):c.3038A>T (p.His1013Leu)
NM_000214.3(JAG1):c.3039T>C (p.His1013=) rs770077297
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.3064C>T (p.Arg1022Trp) rs1057516205
NM_000214.3(JAG1):c.3067del (p.Asp1023fs) rs863223677
NM_000214.3(JAG1):c.30del (p.Arg12fs) rs1568807483
NM_000214.3(JAG1):c.311del (p.Gly104fs) rs886041782
NM_000214.3(JAG1):c.3127G>A (p.Asp1043Asn) rs1278689263
NM_000214.3(JAG1):c.3140C>A (p.Ser1047Ter) rs267605834
NM_000214.3(JAG1):c.3149C>T (p.Ala1050Val)
NM_000214.3(JAG1):c.314A>G (p.Asn105Ser) rs1568806951
NM_000214.3(JAG1):c.3153C>T (p.Ala1051=)
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.3166_3167AG[1] (p.Arg1056fs) rs1555827650
NM_000214.3(JAG1):c.3213dup (p.Leu1073fs) rs1568791022
NM_000214.3(JAG1):c.3280C>T (p.Arg1094Trp) rs75652750
NM_000214.3(JAG1):c.3281G>A (p.Arg1094Gln) rs139629694
NM_000214.3(JAG1):c.3286C>T (p.Arg1096Trp)
NM_000214.3(JAG1):c.3289C>T (p.Arg1097Trp) rs768554175
NM_000214.3(JAG1):c.3291G>C (p.Arg1097=)
NM_000214.3(JAG1):c.3296C>T (p.Pro1099Leu) rs200949270
NM_000214.3(JAG1):c.3297G>A (p.Pro1099=) rs748849177
NM_000214.3(JAG1):c.3308C>A (p.Thr1103Lys) rs781429347
NM_000214.3(JAG1):c.3308C>T (p.Thr1103Ile) 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.3329A>C (p.Asn1110Thr) rs150811951
NM_000214.3(JAG1):c.3333C>T (p.Thr1111=) rs141439542
NM_000214.3(JAG1):c.3342C>T (p.Asn1114=) rs759853433
NM_000214.3(JAG1):c.3343G>A (p.Val1115Met) rs148373907
NM_000214.3(JAG1):c.3346C>T (p.Arg1116Trp) rs377723772
NM_000214.3(JAG1):c.3347G>A (p.Arg1116Gln) rs908755268
NM_000214.3(JAG1):c.3351G>C (p.Glu1117Asp) rs1568790865
NM_000214.3(JAG1):c.3391G>A (p.Ala1131Thr) rs769242977
NM_000214.3(JAG1):c.3417= (p.Tyr1139=) rs1051419
NM_000214.3(JAG1):c.3417T>C (p.Tyr1139=) rs1051419
NM_000214.3(JAG1):c.3467T>C (p.Val1156Ala) rs143966918
NM_000214.3(JAG1):c.349dup (p.Arg117fs) rs886041727
NM_000214.3(JAG1):c.3507G>C (p.Arg1169=)
NM_000214.3(JAG1):c.350del (p.Arg117fs) rs1555830929
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.3521C>T (p.Pro1174Leu) rs775363555
NM_000214.3(JAG1):c.3524C>T (p.Ala1175Val)
NM_000214.3(JAG1):c.3525G>A (p.Ala1175=) rs745431482
NM_000214.3(JAG1):c.3528C>T (p.Tyr1176=) rs1051421
NM_000214.3(JAG1):c.3555C>T (p.Pro1185=) rs142017684
NM_000214.3(JAG1):c.355C>T (p.Arg119Cys) rs1555830925
NM_000214.3(JAG1):c.3560A>G (p.Asn1187Ser) rs755420729
NM_000214.3(JAG1):c.3567G>A (p.Thr1189=)
NM_000214.3(JAG1):c.3570G>A (p.Pro1190=) rs201572666
NM_000214.3(JAG1):c.3583A>G (p.Asn1195Asp) rs397515876
NM_000214.3(JAG1):c.3638G>A (p.Arg1213Gln)
NM_000214.3(JAG1):c.3651C>T (p.Ile1217=) rs542831744
NM_000214.3(JAG1):c.3652G>A (p.Val1218Ile) rs150295026
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.387+2T>C rs1555830919
NM_000214.3(JAG1):c.388-10T>A rs1568803400
NM_000214.3(JAG1):c.388-43C>T rs17536052
NM_000214.3(JAG1):c.388-4G>C rs567027490
NM_000214.3(JAG1):c.390dup (p.Ser131fs) rs886044111
NM_000214.3(JAG1):c.399G>A (p.Thr133=) rs763154396
NM_000214.3(JAG1):c.3G>A (p.Met1Ile) rs1555831014
NM_000214.3(JAG1):c.400T>C (p.Leu134=) rs140511204
NM_000214.3(JAG1):c.41del (p.Leu14fs) rs1568807463
NM_000214.3(JAG1):c.435C>T (p.Thr145=) rs747879633
NM_000214.3(JAG1):c.436G>A (p.Val146Ile) rs6040067
NM_000214.3(JAG1):c.439+10G>A rs201371037
NM_000214.3(JAG1):c.439+1G>A rs863223648
NM_000214.3(JAG1):c.439C>T (p.Gln147Ter) rs886043606
NM_000214.3(JAG1):c.440-15T>C rs2273060
NM_000214.3(JAG1):c.440-173C>T rs2273061
NM_000214.3(JAG1):c.440-3T>C
NM_000214.3(JAG1):c.459_460insT (p.Lys154Ter) rs1568801096
NM_000214.3(JAG1):c.473C>G (p.Ser158Trp)
NM_000214.3(JAG1):c.474G>C (p.Ser158=)
NM_000214.3(JAG1):c.488C>G (p.Pro163Arg) rs1555829676
NM_000214.3(JAG1):c.489C>T (p.Pro163=)
NM_000214.3(JAG1):c.494G>A (p.Arg165Gln)
NM_000214.3(JAG1):c.500G>A (p.Trp167Ter) rs1568801068
NM_000214.3(JAG1):c.51G>A (p.Leu17=) rs1018632242
NM_000214.3(JAG1):c.521C>T (p.Thr174Met) rs144999773
NM_000214.3(JAG1):c.526G>A (p.Val176Ile) rs199674138
NM_000214.3(JAG1):c.537dup (p.Glu180Ter) rs863223663
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.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.573C>T (p.Tyr191=)
NM_000214.3(JAG1):c.587_588delinsT (p.Cys196fs) rs863223664
NM_000214.3(JAG1):c.588C>T (p.Cys196=) rs1801138
NM_000214.3(JAG1):c.59T>C (p.Leu20Pro) rs1568807442
NM_000214.3(JAG1):c.5G>T (p.Arg2Leu)
NM_000214.3(JAG1):c.601C>T (p.Arg201Cys) rs794727618
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.634T>C (p.Cys212Arg) rs1555829660
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.Arg231Serfs) rs876660978
NM_000214.3(JAG1):c.694+1G>A rs876660979
NM_000214.3(JAG1):c.694+1G>T
NM_000214.3(JAG1):c.695-10dup
NM_000214.3(JAG1):c.695-12T>A rs886039498
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>T (p.Cys234=)
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.71T>C (p.Leu24Pro) rs1135401949
NM_000214.3(JAG1):c.722A>G (p.Lys241Arg) rs1405610551
NM_000214.3(JAG1):c.744A>G (p.Pro248=) rs10485741
NM_000214.3(JAG1):c.756-14C>T rs757351921
NM_000214.3(JAG1):c.756-1G>T rs1568798388
NM_000214.3(JAG1):c.765= (p.Tyr255=) rs1131695
NM_000214.3(JAG1):c.765C>G (p.Tyr255Ter) rs1131695
NM_000214.3(JAG1):c.765C>T (p.Tyr255=) rs1131695
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.806C>T (p.Pro269Leu) rs797044956
NM_000214.3(JAG1):c.81+1G>A rs876661066
NM_000214.3(JAG1):c.81+9C>T rs1235592073
NM_000214.3(JAG1):c.813C>G (p.Cys271Trp)
NM_000214.3(JAG1):c.814G>A (p.Val272Ile) rs148990028
NM_000214.3(JAG1):c.82-2A>G rs1568807161
NM_000214.3(JAG1):c.821G>A (p.Gly274Asp) rs28939668
NM_000214.3(JAG1):c.82G>C (p.Val28Leu) rs142855305
NM_000214.3(JAG1):c.841C>T (p.Gln281Ter) rs886043603
NM_000214.3(JAG1):c.850_851TG[1] (p.Cys284_Glu285delinsTer) rs1568798289
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.860A>G (p.Asn287Ser) rs768317581
NM_000214.3(JAG1):c.863G>A (p.Trp288Ter) rs1064796702
NM_000214.3(JAG1):c.870C>T (p.Gly290=)
NM_000214.3(JAG1):c.871C>T (p.Gln291Ter) rs876661096
NM_000214.3(JAG1):c.878G>A (p.Cys293Tyr) rs1568798248
NM_000214.3(JAG1):c.886+19A>T rs200311847
NM_000214.3(JAG1):c.886+3A>G rs1555829065
NM_000214.3(JAG1):c.886+5G>A rs1173329664
NM_000214.3(JAG1):c.894T>C (p.Asn298=) rs149897344
NM_000214.3(JAG1):c.909T>C (p.His303=) rs139574260
NM_000214.3(JAG1):c.910C>T (p.Gln304Ter) rs863223649
NM_000214.3(JAG1):c.915G>A (p.Pro305=)
NM_000214.3(JAG1):c.924C>T (p.Asn308=) rs45575136
NM_000214.3(JAG1):c.925G>C (p.Gly309Arg) rs750195672
NM_000214.3(JAG1):c.929del (p.Gly310fs) rs1555829039
NM_000214.3(JAG1):c.931A>G (p.Thr311Ala)
NM_000214.3(JAG1):c.932del (p.Thr311fs) rs1555829037
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

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