ClinVar Miner

List of variants in gene JAG1 reported as uncertain significance

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Gene type:
ClinVar version:
Total variants: 932
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HGVS dbSNP gnomAD frequency
NM_000214.3(JAG1):c.-384T>G rs559044448 0.00399
NM_000214.3(JAG1):c.*1551C>T rs760811504 0.00101
NM_000214.3(JAG1):c.2778C>T (p.Phe926=) rs147793030 0.00089
NM_000214.3(JAG1):c.2231G>A (p.Arg744Gln) rs147809756 0.00069
NM_000214.3(JAG1):c.*914G>A rs111277443 0.00054
NM_000214.3(JAG1):c.133G>T (p.Val45Leu) rs183974372 0.00054
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.*1637A>G rs886056505 0.00037
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.2043G>A (p.Thr681=) rs151291264 0.00029
NM_000214.3(JAG1):c.82G>C (p.Val28Leu) rs142855305 0.00026
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.1348+3G>A rs368718180 0.00019
NM_000214.3(JAG1):c.2979C>T (p.Ser993=) rs542976402 0.00016
NM_000214.3(JAG1):c.*297C>T rs575525743 0.00015
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.*253C>T rs780887274 0.00014
NM_000214.3(JAG1):c.*398T>C rs562655817 0.00014
NM_000214.3(JAG1):c.*641C>A rs866626696 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.1706C>T (p.Thr569Met) rs368438076 0.00012
NM_000214.3(JAG1):c.19C>T (p.Arg7Cys) rs563232654 0.00012
NM_000214.3(JAG1):c.*1668A>C rs943169809 0.00011
NM_000214.3(JAG1):c.1146C>T (p.Asn382=) rs200133928 0.00011
NM_000214.3(JAG1):c.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.1115C>T (p.Ser372Phe) rs772669312 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.3346C>T (p.Arg1116Trp) rs377723772 0.00009
NM_000214.3(JAG1):c.1628G>A (p.Arg543His) rs544877858 0.00008
NM_000214.3(JAG1):c.3302G>A (p.Ser1101Asn) rs377617900 0.00008
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.3638G>A (p.Arg1213Gln) rs138007561 0.00007
NM_000214.3(JAG1):c.3652G>A (p.Val1218Ile) rs150295026 0.00007
NM_000214.3(JAG1):c.1015G>T (p.Ala339Ser) rs751516838 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.3391G>A (p.Ala1131Thr) rs769242977 0.00006
NM_000214.3(JAG1):c.3583A>G (p.Asn1195Asp) rs397515876 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.*9G>A rs372620326 0.00005
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.204C>T (p.Arg68=) rs565407240 0.00005
NM_000214.3(JAG1):c.2287G>A (p.Gly763Ser) rs746939887 0.00005
NM_000214.3(JAG1):c.2758A>T (p.Ile920Phe) rs1252730791 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.316A>G (p.Thr106Ala) rs909905245 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.*401C>T rs886056511 0.00004
NM_000214.3(JAG1):c.*970T>C rs886056510 0.00004
NM_000214.3(JAG1):c.1049G>A (p.Ser350Asn) rs199922494 0.00004
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.1756G>A (p.Asp586Asn) rs762348061 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.2590A>G (p.Ile864Val) rs142742183 0.00004
NM_000214.3(JAG1):c.2701C>A (p.Pro901Thr) rs372904306 0.00004
NM_000214.3(JAG1):c.2827C>T (p.Pro943Ser) rs760332763 0.00004
NM_000214.3(JAG1):c.2884A>G (p.Thr962Ala) rs527420845 0.00004
NM_000214.3(JAG1):c.3398C>T (p.Thr1133Met) rs373260040 0.00004
NM_000214.3(JAG1):c.3651C>T (p.Ile1217=) rs542831744 0.00004
NM_000214.3(JAG1):c.439+9C>T rs374350782 0.00004
NM_000214.3(JAG1):c.1438G>T (p.Ala480Ser) rs144557870 0.00003
NM_000214.3(JAG1):c.2304C>T (p.Cys768=) rs755427292 0.00003
NM_000214.3(JAG1):c.2307C>T (p.Val769=) rs1009422076 0.00003
NM_000214.3(JAG1):c.2980G>A (p.Ala994Thr) rs750273506 0.00003
NM_000214.3(JAG1):c.3178C>T (p.Arg1060Trp) rs760992773 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.3503C>G (p.Ala1168Gly) rs375431219 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_000214.2(JAG1):c.-507G>A rs747888489 0.00002
NM_000214.3(JAG1):c.*1612G>A rs998342074 0.00002
NM_000214.3(JAG1):c.1102G>A (p.Gly368Ser) rs372558458 0.00002
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.1329G>A (p.Met443Ile) rs547676061 0.00002
NM_000214.3(JAG1):c.1443C>T (p.Gly481=) rs879921003 0.00002
NM_000214.3(JAG1):c.1835A>G (p.Lys612Arg) rs750855317 0.00002
NM_000214.3(JAG1):c.2042C>T (p.Thr681Met) rs772675011 0.00002
NM_000214.3(JAG1):c.2087G>A (p.Gly696Glu) rs780243244 0.00002
NM_000214.3(JAG1):c.2113C>T (p.Arg705Cys) rs1436816052 0.00002
NM_000214.3(JAG1):c.2199C>T (p.Gly733=) rs756062969 0.00002
NM_000214.3(JAG1):c.2200G>A (p.Gly734Ser) rs199561320 0.00002
NM_000214.3(JAG1):c.2227+5C>G rs371127863 0.00002
NM_000214.3(JAG1):c.2393T>A (p.Val798Glu) rs1308346607 0.00002
NM_000214.3(JAG1):c.2498C>T (p.Ala833Val) rs141292792 0.00002
NM_000214.3(JAG1):c.2552G>A (p.Ser851Asn) rs1211288472 0.00002
NM_000214.3(JAG1):c.262G>T (p.Ala88Ser) rs1368255658 0.00002
NM_000214.3(JAG1):c.2671G>A (p.Ala891Thr) rs1454234098 0.00002
NM_000214.3(JAG1):c.2792C>T (p.Thr931Ile) rs368032094 0.00002
NM_000214.3(JAG1):c.2803G>A (p.Glu935Lys) rs753161584 0.00002
NM_000214.3(JAG1):c.2911T>C (p.Ser971Pro) rs750570683 0.00002
NM_000214.3(JAG1):c.3001G>A (p.Ala1001Thr) rs200593413 0.00002
NM_000214.3(JAG1):c.3112C>A (p.Leu1038Ile) rs139934091 0.00002
NM_000214.3(JAG1):c.3209T>C (p.Val1070Ala) rs374654050 0.00002
NM_000214.3(JAG1):c.3261G>A (p.Thr1087=) rs770197804 0.00002
NM_000214.3(JAG1):c.3308C>T (p.Thr1103Ile) rs781429347 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.489C>T (p.Pro163=) rs376298235 0.00002
NM_000214.3(JAG1):c.566A>G (p.Asp189Gly) rs1362570122 0.00002
NM_000214.2(JAG1):c.-482G>A rs886056520 0.00001
NM_000214.3(JAG1):c.*1224G>A rs886056506 0.00001
NM_000214.3(JAG1):c.*18C>T rs1160652210 0.00001
NM_000214.3(JAG1):c.*521T>C rs755826715 0.00001
NM_000214.3(JAG1):c.*7G>A rs879800923 0.00001
NM_000214.3(JAG1):c.*881C>T rs1191747708 0.00001
NM_000214.3(JAG1):c.-129C>T rs886056516 0.00001
NM_000214.3(JAG1):c.-6G>T rs2067513848 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.1117A>G (p.Thr373Ala) rs1212026437 0.00001
NM_000214.3(JAG1):c.1119A>G (p.Thr373=) rs762382192 0.00001
NM_000214.3(JAG1):c.1153C>T (p.His385Tyr) rs374935659 0.00001
NM_000214.3(JAG1):c.1181A>G (p.Asn394Ser) rs767973852 0.00001
NM_000214.3(JAG1):c.11C>T (p.Pro4Leu) rs1568807505 0.00001
NM_000214.3(JAG1):c.1214C>G (p.Thr405Ser) rs1237367300 0.00001
NM_000214.3(JAG1):c.1223C>T (p.Thr408Met) rs773039210 0.00001
NM_000214.3(JAG1):c.1234+3A>G rs1209302268 0.00001
NM_000214.3(JAG1):c.1270G>A (p.Ala424Thr) rs755648887 0.00001
NM_000214.3(JAG1):c.1274A>G (p.Lys425Arg) rs780939183 0.00001
NM_000214.3(JAG1):c.1297A>G (p.Ser433Gly) rs1459652772 0.00001
NM_000214.3(JAG1):c.1346T>A (p.Ile449Lys) rs1465136716 0.00001
NM_000214.3(JAG1):c.1367G>A (p.Gly456Asp) rs534533867 0.00001
NM_000214.3(JAG1):c.1377G>C (p.Gln459His) rs762746994 0.00001
NM_000214.3(JAG1):c.1384G>A (p.Ala462Thr) rs201667840 0.00001
NM_000214.3(JAG1):c.1394G>A (p.Arg465Gln) rs558315798 0.00001
NM_000214.3(JAG1):c.1414C>T (p.Arg472Cys) rs1346269262 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.1475C>T (p.Ala492Val) rs200250528 0.00001
NM_000214.3(JAG1):c.1511A>G (p.Asn504Ser) rs527236046 0.00001
NM_000214.3(JAG1):c.151A>G (p.Asn51Asp) rs2067507706 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.1579G>A (p.Asp527Asn) rs934594487 0.00001
NM_000214.3(JAG1):c.1606A>C (p.Asn536His) rs1176315498 0.00001
NM_000214.3(JAG1):c.1613C>T (p.Ala538Val) rs2067321488 0.00001
NM_000214.3(JAG1):c.1616A>G (p.Gln539Arg) rs2067321448 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.1659G>T (p.Glu553Asp) rs1337206941 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.1720+5C>T rs757230587 0.00001
NM_000214.3(JAG1):c.1721-15A>G rs753524030 0.00001
NM_000214.3(JAG1):c.175C>T (p.Arg59Trp) rs2067507466 0.00001
NM_000214.3(JAG1):c.1775G>A (p.Arg592Gln) rs1436726865 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.1921G>A (p.Gly641Ser) rs758994613 0.00001
NM_000214.3(JAG1):c.1936G>A (p.Asp646Asn) rs748640724 0.00001
NM_000214.3(JAG1):c.1971C>T (p.Asp657=) rs368661822 0.00001
NM_000214.3(JAG1):c.2000-14C>G rs777011001 0.00001
NM_000214.3(JAG1):c.203G>C (p.Arg68Pro) rs892275570 0.00001
NM_000214.3(JAG1):c.2114G>A (p.Arg705His) rs1320720578 0.00001
NM_000214.3(JAG1):c.2120G>A (p.Ser707Asn) rs2122603091 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.2234A>C (p.Asn745Thr) rs1314917198 0.00001
NM_000214.3(JAG1):c.2305G>A (p.Val769Ile) rs754301929 0.00001
NM_000214.3(JAG1):c.2342A>G (p.Gln781Arg) rs2067296582 0.00001
NM_000214.3(JAG1):c.2344+7G>A rs372877582 0.00001
NM_000214.3(JAG1):c.2344A>G (p.Asn782Asp) rs1197697440 0.00001
NM_000214.3(JAG1):c.2360G>A (p.Ser787Asn) rs761640153 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.2414G>A (p.Arg805Gln) rs774372899 0.00001
NM_000214.3(JAG1):c.2419G>A (p.Glu807Lys) rs564566567 0.00001
NM_000214.3(JAG1):c.2429C>T (p.Pro810Leu) rs769531968 0.00001
NM_000214.3(JAG1):c.2451C>T (p.Cys817=) rs747532570 0.00001
NM_000214.3(JAG1):c.2489C>T (p.Ala830Val) rs573313946 0.00001
NM_000214.3(JAG1):c.2497G>A (p.Ala833Thr) rs574205422 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.2557G>A (p.Ala853Thr) rs967515336 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.2672C>T (p.Ala891Val) rs2067274084 0.00001
NM_000214.3(JAG1):c.2687G>T (p.Trp896Leu) rs1227203387 0.00001
NM_000214.3(JAG1):c.2723A>G (p.His908Arg) rs150243935 0.00001
NM_000214.3(JAG1):c.2739C>T (p.Ser913=) rs766479402 0.00001
NM_000214.3(JAG1):c.2767G>A (p.Asp923Asn) rs775240101 0.00001
NM_000214.3(JAG1):c.2779G>A (p.Val927Ile) rs770415804 0.00001
NM_000214.3(JAG1):c.2817C>T (p.Ser939=) rs1180418350 0.00001
NM_000214.3(JAG1):c.2876C>T (p.Ala959Val) rs747802983 0.00001
NM_000214.3(JAG1):c.2959A>T (p.Asn987Tyr) rs2067268754 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.3064C>T (p.Arg1022Trp) rs1057516205 0.00001
NM_000214.3(JAG1):c.3083T>G (p.Ile1028Ser) rs761187116 0.00001
NM_000214.3(JAG1):c.3097G>A (p.Asp1033Asn) rs772228887 0.00001
NM_000214.3(JAG1):c.3098A>G (p.Asp1033Gly) rs748220102 0.00001
NM_000214.3(JAG1):c.3109G>A (p.Asp1037Asn) rs768823146 0.00001
NM_000214.3(JAG1):c.3124C>T (p.Arg1042Cys) rs778801776 0.00001
NM_000214.3(JAG1):c.3127G>A (p.Asp1043Asn) rs1278689263 0.00001
NM_000214.3(JAG1):c.3179G>A (p.Arg1060Gln) rs773538545 0.00001
NM_000214.3(JAG1):c.323A>T (p.Asn108Ile) rs2067505956 0.00001
NM_000214.3(JAG1):c.3265T>C (p.Phe1089Leu) rs537450546 0.00001
NM_000214.3(JAG1):c.3284A>G (p.Lys1095Arg) rs748060377 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.3293A>G (p.Lys1098Arg) rs2067257938 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.3311A>T (p.His1104Leu) rs1788979891 0.00001
NM_000214.3(JAG1):c.3313T>A (p.Ser1105Thr) rs757600041 0.00001
NM_000214.3(JAG1):c.3317C>G (p.Ala1106Gly) rs1194532829 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.335G>A (p.Ser112Asn) rs1190098043 0.00001
NM_000214.3(JAG1):c.3377T>C (p.Ile1126Thr) rs2067257283 0.00001
NM_000214.3(JAG1):c.3385C>A (p.His1129Asn) rs768642155 0.00001
NM_000214.3(JAG1):c.3410A>G (p.Lys1137Arg) rs756835554 0.00001
NM_000214.3(JAG1):c.3452C>A (p.Thr1151Lys) rs1362853052 0.00001
NM_000214.3(JAG1):c.3455A>C (p.His1152Pro) rs2067256686 0.00001
NM_000214.3(JAG1):c.3456C>G (p.His1152Gln) rs1392887430 0.00001
NM_000214.3(JAG1):c.3476A>T (p.Asp1159Val) rs367992928 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.3538G>A (p.Asp1180Asn) rs1023698515 0.00001
NM_000214.3(JAG1):c.3542G>A (p.Arg1181Lys) rs758788135 0.00001
NM_000214.3(JAG1):c.3544G>A (p.Glu1182Lys) rs1479790705 0.00001
NM_000214.3(JAG1):c.3554C>T (p.Pro1185Leu) rs1177139139 0.00001
NM_000214.3(JAG1):c.3560A>G (p.Asn1187Ser) rs755420729 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.3569C>T (p.Pro1190Leu) rs1334807463 0.00001
NM_000214.3(JAG1):c.3577C>T (p.His1193Tyr) rs775241983 0.00001
NM_000214.3(JAG1):c.3620G>A (p.Ser1207Asn) rs1431420265 0.00001
NM_000214.3(JAG1):c.3623C>T (p.Ala1208Val) rs2122592834 0.00001
NM_000214.3(JAG1):c.3653T>A (p.Val1218Glu) rs1342147795 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.418G>A (p.Asp140Asn) rs1456733889 0.00001
NM_000214.3(JAG1):c.422C>A (p.Ser141Tyr) rs1204218385 0.00001
NM_000214.3(JAG1):c.442C>T (p.Pro148Ser) rs1355919795 0.00001
NM_000214.3(JAG1):c.448A>G (p.Ser150Gly) rs1229047867 0.00001
NM_000214.3(JAG1):c.4C>G (p.Arg2Gly) rs984916696 0.00001
NM_000214.3(JAG1):c.506C>T (p.Thr169Met) rs745324562 0.00001
NM_000214.3(JAG1):c.568T>G (p.Tyr190Asp) rs1242543124 0.00001
NM_000214.3(JAG1):c.67G>A (p.Ala23Thr) rs2067513128 0.00001
NM_000214.3(JAG1):c.694+3A>G rs769581869 0.00001
NM_000214.3(JAG1):c.694+4T>C rs944996400 0.00001
NM_000214.3(JAG1):c.702C>T (p.Cys234=) rs202109974 0.00001
NM_000214.3(JAG1):c.704G>A (p.Arg235Gln) rs1245693208 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.80A>G (p.Lys27Arg) rs1300767206 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.978G>A (p.Glu326=) rs1480738447 0.00001
NM_000214.3(JAG1):c.994A>G (p.Asn332Asp) rs562158374 0.00001
NM_000214.2(JAG1):c.-483C>T rs867504722
NM_000214.3(JAG1):c.*1093_*1097del rs886056509
NM_000214.3(JAG1):c.*1133_*1136del rs886056508
NM_000214.3(JAG1):c.*1212_*1214del rs886056507
NM_000214.3(JAG1):c.*1440A>G rs2067244785
NM_000214.3(JAG1):c.*1531TG[1] rs765273169
NM_000214.3(JAG1):c.*378T>G rs886056512
NM_000214.3(JAG1):c.*587T>C rs2067250788
NM_000214.3(JAG1):c.*644AAT[1] rs572952606
NM_000214.3(JAG1):c.*959GTTT[2] rs748163677
NM_000214.3(JAG1):c.-105C>G rs886056515
NM_000214.3(JAG1):c.-185G>C rs1398348355
NM_000214.3(JAG1):c.-27C>G rs886056513
NM_000214.3(JAG1):c.-364T>G rs886056517
NM_000214.3(JAG1):c.-375dup rs201660680
NM_000214.3(JAG1):c.-386dup rs886056519
NM_000214.3(JAG1):c.-465G>T rs943315478
NM_000214.3(JAG1):c.-73G>C rs886056514
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.1013A>G (p.His338Arg) rs2067347480
NM_000214.3(JAG1):c.101A>C (p.Gln34Pro) rs1555830973
NM_000214.3(JAG1):c.1022T>C (p.Leu341Pro) rs2514520793
NM_000214.3(JAG1):c.1023C>T (p.Leu341=) rs1297627471
NM_000214.3(JAG1):c.1025C>G (p.Ser342Cys) rs2514520790
NM_000214.3(JAG1):c.1036C>T (p.His346Tyr) rs2067347304
NM_000214.3(JAG1):c.1056G>C (p.Lys352Asn) rs2514520747
NM_000214.3(JAG1):c.1059G>C (p.Glu353Asp) rs2514520745
NM_000214.3(JAG1):c.1060A>T (p.Thr354Ser)
NM_000214.3(JAG1):c.1064C>A (p.Ser355Tyr) rs1235681626
NM_000214.3(JAG1):c.1066C>A (p.Leu356Met) rs2122613611
NM_000214.3(JAG1):c.1078T>C (p.Cys360Arg)
NM_000214.3(JAG1):c.1079G>T (p.Cys360Phe) rs2514520714
NM_000214.3(JAG1):c.1083G>T (p.Glu361Asp) rs753419479
NM_000214.3(JAG1):c.10C>T (p.Pro4Ser) rs2514539096
NM_000214.3(JAG1):c.1105C>T (p.Pro369Ser)
NM_000214.3(JAG1):c.1120A>G (p.Asn374Asp)
NM_000214.3(JAG1):c.1121-14_1121-10del rs2122611723
NM_000214.3(JAG1):c.1123A>G (p.Ile375Val) rs2122611687
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.1155C>A (p.His385Gln) rs531019589
NM_000214.3(JAG1):c.1160G>A (p.Gly387Asp) rs1376630188
NM_000214.3(JAG1):c.1165T>C (p.Cys389Arg)
NM_000214.3(JAG1):c.116T>A (p.Ile39Asn) rs2067508041
NM_000214.3(JAG1):c.1177G>C (p.Val393Leu) rs1330216708
NM_000214.3(JAG1):c.1202C>T (p.Pro401Leu) rs2514519154
NM_000214.3(JAG1):c.1205C>A (p.Pro402Gln) rs144204614
NM_000214.3(JAG1):c.1205C>G (p.Pro402Arg) rs144204614
NM_000214.3(JAG1):c.1216G>A (p.Gly406Arg) rs2067336534
NM_000214.3(JAG1):c.1236T>A (p.Asp412Glu) rs1568796947
NM_000214.3(JAG1):c.1238C>T (p.Ala413Val) rs2514518409
NM_000214.3(JAG1):c.1241A>G (p.Asn414Ser)
NM_000214.3(JAG1):c.1249G>A (p.Glu417Lys) rs2514518403
NM_000214.3(JAG1):c.1253C>A (p.Ala418Asp)
NM_000214.3(JAG1):c.1258C>A (p.Pro420Thr) rs1477546681
NM_000214.3(JAG1):c.1261T>C (p.Cys421Arg)
NM_000214.3(JAG1):c.1264G>A (p.Val422Ile) rs763799026
NM_000214.3(JAG1):c.1269C>A (p.Asn423Lys) rs200498563
NM_000214.3(JAG1):c.126G>A (p.Met42Ile)
NM_000214.3(JAG1):c.1277C>T (p.Ser426Phe) rs958409504
NM_000214.3(JAG1):c.127C>G (p.Gln43Glu)
NM_000214.3(JAG1):c.1283A>G (p.Lys428Arg) rs2514518373
NM_000214.3(JAG1):c.1291A>G (p.Ile431Val)
NM_000214.3(JAG1):c.1295C>G (p.Ala432Gly) rs2514518364
NM_000214.3(JAG1):c.1303T>G (p.Tyr435Asp)
NM_000214.3(JAG1):c.1306T>C (p.Cys436Arg) rs2122610484
NM_000214.3(JAG1):c.1307G>A (p.Cys436Tyr) rs1568796900
NM_000214.3(JAG1):c.1308_1325del (p.Cys436_Gly441del) rs2067332008
NM_000214.3(JAG1):c.1309G>C (p.Asp437His) rs758876727
NM_000214.3(JAG1):c.1318C>T (p.Pro440Ser) rs1187579730
NM_000214.3(JAG1):c.1322G>A (p.Gly441Asp) rs2067332021
NM_000214.3(JAG1):c.1326G>T (p.Trp442Cys) rs794726974
NM_000214.3(JAG1):c.1330G>A (p.Gly444Ser) rs2067331900
NM_000214.3(JAG1):c.1330G>C (p.Gly444Arg) rs2067331900
NM_000214.3(JAG1):c.1331G>T (p.Gly444Val)
NM_000214.3(JAG1):c.1336A>G (p.Asn446Asp)
NM_000214.3(JAG1):c.1339T>C (p.Cys447Arg) rs863223651
NM_000214.3(JAG1):c.1345A>G (p.Ile449Val) rs2122610344
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.134_154dup (p.Asn51_Gly52insValAsnGlyGluLeuGlnAsn)
NM_000214.3(JAG1):c.1352T>A (p.Ile451Asn) rs1178459436
NM_000214.3(JAG1):c.1357G>A (p.Asp453Asn) rs1600184118
NM_000214.3(JAG1):c.1370A>G (p.Gln457Arg) rs1458033263
NM_000214.3(JAG1):c.1372T>C (p.Cys458Arg) rs2514517850
NM_000214.3(JAG1):c.1375C>A (p.Gln459Lys) rs1289016419
NM_000214.3(JAG1):c.1377G>T (p.Gln459His)
NM_000214.3(JAG1):c.1382A>C (p.Asp461Ala)
NM_000214.3(JAG1):c.1383C>A (p.Asp461Glu)
NM_000214.3(JAG1):c.1388C>T (p.Ser463Phe) rs776332337
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+5_1395+7delinsATG rs1568796544
NM_000214.3(JAG1):c.1396-3T>C rs2514517350
NM_000214.3(JAG1):c.139G>C (p.Gly47Arg) rs2122644822
NM_000214.3(JAG1):c.139_159del (p.Gly47_Asn53del) rs754284753
NM_000214.3(JAG1):c.1426C>A (p.Pro476Thr) rs2514517293
NM_000214.3(JAG1):c.1427C>T (p.Pro476Leu) rs148448920
NM_000214.3(JAG1):c.142G>A (p.Glu48Lys) rs1600196580
NM_000214.3(JAG1):c.1430C>T (p.Pro477Leu) rs1555828655
NM_000214.3(JAG1):c.1433G>C (p.Gly478Ala)
NM_000214.3(JAG1):c.1442G>A (p.Gly481Asp) rs753841056
NM_000214.3(JAG1):c.1462A>G (p.Ile488Val)
NM_000214.3(JAG1):c.1462A>T (p.Ile488Phe) rs1374195197
NM_000214.3(JAG1):c.1465G>A (p.Asp489Asn) rs370107709
NM_000214.3(JAG1):c.1466A>G (p.Asp489Gly)
NM_000214.3(JAG1):c.1491G>C (p.Leu497Phe)
NM_000214.3(JAG1):c.1499G>T (p.Gly500Val)
NM_000214.3(JAG1):c.1501C>G (p.His501Asp)
NM_000214.3(JAG1):c.1501C>T (p.His501Tyr)
NM_000214.3(JAG1):c.1517T>G (p.Ile506Ser) rs2514517173
NM_000214.3(JAG1):c.1520A>G (p.Asn507Ser)
NM_000214.3(JAG1):c.1521C>G (p.Asn507Lys) rs2067324770
NM_000214.3(JAG1):c.1537T>C (p.Cys513Arg) rs1568796126
NM_000214.3(JAG1):c.1538G>A (p.Cys513Tyr) rs2514517154
NM_000214.3(JAG1):c.1540C>G (p.Pro514Ala) rs2514517151
NM_000214.3(JAG1):c.1553C>T (p.Ser518Phe)
NM_000214.3(JAG1):c.1558A>C (p.Asn520His)
NM_000214.3(JAG1):c.1564T>C (p.Cys522Arg) rs2514517124
NM_000214.3(JAG1):c.1570-14C>T
NM_000214.3(JAG1):c.1570-3C>A rs1298304802
NM_000214.3(JAG1):c.1579G>T (p.Asp527Tyr) rs934594487
NM_000214.3(JAG1):c.1582T>G (p.Tyr528Asp) rs2122607889
NM_000214.3(JAG1):c.1589A>G (p.Glu530Gly)
NM_000214.3(JAG1):c.1591C>A (p.Pro531Thr) rs2514516698
NM_000214.3(JAG1):c.1608C>G (p.Asn536Lys) rs200648453
NM_000214.3(JAG1):c.1610G>T (p.Gly537Val)
NM_000214.3(JAG1):c.1638C>A (p.Asp546Glu)
NM_000214.3(JAG1):c.1654C>G (p.Pro552Ala) rs2514516623
NM_000214.3(JAG1):c.1654C>T (p.Pro552Ser) rs2514516623
NM_000214.3(JAG1):c.1657G>A (p.Glu553Lys) rs759763539
NM_000214.3(JAG1):c.165C>G (p.Cys55Trp)
NM_000214.3(JAG1):c.1664A>G (p.Tyr555Cys) rs2514516599
NM_000214.3(JAG1):c.167G>A (p.Gly56Asp)
NM_000214.3(JAG1):c.1685A>G (p.His562Arg)
NM_000214.3(JAG1):c.1689G>A (p.Leu563=) rs930662596
NM_000214.3(JAG1):c.1693G>A (p.Asp565Asn) rs2514516564
NM_000214.3(JAG1):c.1696C>G (p.His566Asp) rs927278875
NM_000214.3(JAG1):c.1696C>T (p.His566Tyr)
NM_000214.3(JAG1):c.1706C>G (p.Thr569Arg) rs368438076
NM_000214.3(JAG1):c.1709C>T (p.Thr570Ile) rs1199378103
NM_000214.3(JAG1):c.1712C>A (p.Pro571His) rs770278916
NM_000214.3(JAG1):c.1712C>T (p.Pro571Leu)
NM_000214.3(JAG1):c.1714T>C (p.Cys572Arg) rs2514516526
NM_000214.3(JAG1):c.1720+3A>G rs1555828541
NM_000214.3(JAG1):c.1720+4C>T
NM_000214.3(JAG1):c.1724T>C (p.Ile575Thr) rs2067314756
NM_000214.3(JAG1):c.172G>T (p.Ala58Ser)
NM_000214.3(JAG1):c.1731C>A (p.Ser577Arg)
NM_000214.3(JAG1):c.1732T>C (p.Cys578Arg)
NM_000214.3(JAG1):c.1739T>A (p.Val580Glu) rs2514515723
NM_000214.3(JAG1):c.1739T>C (p.Val580Ala) rs2514515723
NM_000214.3(JAG1):c.1744A>G (p.Met582Val) rs2067314648
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.1762C>T (p.Pro588Ser) rs1321273663
NM_000214.3(JAG1):c.1769G>A (p.Gly590Glu)
NM_000214.3(JAG1):c.1773G>A (p.Val591=)
NM_000214.3(JAG1):c.1794C>G (p.Val598=) rs200580391
NM_000214.3(JAG1):c.1801C>T (p.Pro601Ser) rs2514515642
NM_000214.3(JAG1):c.1804C>A (p.His602Asn)
NM_000214.3(JAG1):c.1806C>A (p.His602Gln)
NM_000214.3(JAG1):c.1806C>G (p.His602Gln) rs764290237
NM_000214.3(JAG1):c.1807G>A (p.Gly603Arg)
NM_000214.3(JAG1):c.181C>T (p.Pro61Ser)
NM_000214.3(JAG1):c.1822C>G (p.Gln608Glu)
NM_000214.3(JAG1):c.182C>T (p.Pro61Leu) rs199603948
NM_000214.3(JAG1):c.1832G>T (p.Gly611Val) rs2122606183
NM_000214.3(JAG1):c.184G>C (p.Gly62Arg) rs752774309
NM_000214.3(JAG1):c.1850G>A (p.Cys617Tyr)
NM_000214.3(JAG1):c.1856A>G (p.Lys619Arg) rs1009426924
NM_000214.3(JAG1):c.1859G>T (p.Gly620Val) rs752105789
NM_000214.3(JAG1):c.1865C>A (p.Thr622Lys)
NM_000214.3(JAG1):c.1885+20G>T
NM_000214.3(JAG1):c.1886-3T>C
NM_000214.3(JAG1):c.1898G>A (p.Cys633Tyr) rs2122604573
NM_000214.3(JAG1):c.18G>C (p.Thr6=) rs576539291
NM_000214.3(JAG1):c.190C>T (p.Arg64Cys) rs1424822533
NM_000214.3(JAG1):c.1914T>G (p.Cys638Trp) rs1261301855
NM_000214.3(JAG1):c.1915A>G (p.Arg639Gly) rs747362885
NM_000214.3(JAG1):c.191G>A (p.Arg64His)
NM_000214.3(JAG1):c.191_192delinsAG (p.Arg64Gln) rs2122644702
NM_000214.3(JAG1):c.1931G>T (p.Cys644Phe)
NM_000214.3(JAG1):c.194A>G (p.Lys65Arg) rs2514537990
NM_000214.3(JAG1):c.1951T>C (p.Tyr651His) rs2122604469
NM_000214.3(JAG1):c.1963T>C (p.Cys655Arg) rs2514514439
NM_000214.3(JAG1):c.197G>A (p.Cys66Tyr) rs767480908
NM_000214.3(JAG1):c.1984G>A (p.Ala662Thr) rs763048289
NM_000214.3(JAG1):c.1984G>C (p.Ala662Pro) rs763048289
NM_000214.3(JAG1):c.1984G>T (p.Ala662Ser)
NM_000214.3(JAG1):c.1997C>T (p.Thr666Ile) rs2122604394
NM_000214.3(JAG1):c.1998C>T (p.Thr666=) rs1383309484
NM_000214.3(JAG1):c.199A>C (p.Thr67Pro)
NM_000214.3(JAG1):c.199A>G (p.Thr67Ala) rs2514537979
NM_000214.3(JAG1):c.2000A>T (p.Asn667Ile)
NM_000214.3(JAG1):c.2005A>G (p.Asn669Asp) rs2514513717
NM_000214.3(JAG1):c.200C>G (p.Thr67Ser) rs2514537977
NM_000214.3(JAG1):c.2011T>C (p.Cys671Arg) rs1568794367
NM_000214.3(JAG1):c.2017C>A (p.Gln673Lys) rs1555828252
NM_000214.3(JAG1):c.2024C>T (p.Pro675Leu) rs2514513699
NM_000214.3(JAG1):c.202C>T (p.Arg68Cys) rs2514537971
NM_000214.3(JAG1):c.2030A>C (p.His677Pro) rs2514513684
NM_000214.3(JAG1):c.203G>A (p.Arg68His)
NM_000214.3(JAG1):c.2050G>A (p.Asp684Asn) rs933125751
NM_000214.3(JAG1):c.2051A>G (p.Asp684Gly) rs2514513655
NM_000214.3(JAG1):c.205G>C (p.Asp69His)
NM_000214.3(JAG1):c.2064C>G (p.Asp688Glu) rs2122603442
NM_000214.3(JAG1):c.2065T>C (p.Phe689Leu) rs2514513635
NM_000214.3(JAG1):c.2069_2071del (p.Tyr690del)
NM_000214.3(JAG1):c.2072G>A (p.Cys691Tyr) rs1555828246
NM_000214.3(JAG1):c.2076C>A (p.Asp692Glu) rs2067301920
NM_000214.3(JAG1):c.2077T>C (p.Cys693Arg) rs1568794319
NM_000214.3(JAG1):c.2078G>C (p.Cys693Ser) rs566563238
NM_000214.3(JAG1):c.2087G>C (p.Gly696Ala) rs780243244
NM_000214.3(JAG1):c.2093A>G (p.Lys698Arg)
NM_000214.3(JAG1):c.20G>A (p.Arg7His) rs2514539072
NM_000214.3(JAG1):c.2101A>G (p.Thr701Ala)
NM_000214.3(JAG1):c.210G>C (p.Glu70Asp) rs2514537941
NM_000214.3(JAG1):c.2113+5G>A rs886044704
NM_000214.3(JAG1):c.2117A>T (p.Asp706Val)
NM_000214.3(JAG1):c.2123A>C (p.Gln708Pro) rs2514513395
NM_000214.3(JAG1):c.2132A>T (p.Glu711Val) rs2514513376
NM_000214.3(JAG1):c.2140T>C (p.Cys714Arg) rs2514513364
NM_000214.3(JAG1):c.2141G>A (p.Cys714Tyr) rs2067300040
NM_000214.3(JAG1):c.2143A>C (p.Asn715His) rs2514513360
NM_000214.3(JAG1):c.2161T>A (p.Tyr721Asn) rs2514513332
NM_000214.3(JAG1):c.2170G>A (p.Gly724Arg) rs2067299833
NM_000214.3(JAG1):c.2173G>A (p.Asp725Asn)
NM_000214.3(JAG1):c.2173G>T (p.Asp725Tyr) rs2122602965
NM_000214.3(JAG1):c.2174A>G (p.Asp725Gly) rs2514513315
NM_000214.3(JAG1):c.2194C>A (p.Pro732Thr)
NM_000214.3(JAG1):c.2198G>A (p.Gly733Asp)
NM_000214.3(JAG1):c.2198G>C (p.Gly733Ala) rs779874619
NM_000214.3(JAG1):c.2201G>A (p.Gly734Asp) rs2122602901
NM_000214.3(JAG1):c.221A>G (p.Tyr74Cys)
NM_000214.3(JAG1):c.2225T>C (p.Ile742Thr)
NM_000214.3(JAG1):c.2228-13T>C rs1163165774
NM_000214.3(JAG1):c.2228-3T>G rs1244716853
NM_000214.3(JAG1):c.2228-6T>C rs755337222
NM_000214.3(JAG1):c.2237G>A (p.Ser746Asn) rs2122602515
NM_000214.3(JAG1):c.2246T>G (p.Leu749Arg)
NM_000214.3(JAG1):c.224T>C (p.Phe75Ser) rs2122644646
NM_000214.3(JAG1):c.2254C>G (p.Pro752Ala) rs2514512995
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.2261A>G (p.His754Arg) rs774572140
NM_000214.3(JAG1):c.2264A>G (p.Asn755Ser) rs2122602452
NM_000214.3(JAG1):c.2267G>C (p.Gly756Ala)
NM_000214.3(JAG1):c.2268_2270del (p.Gly757del) rs886043605
NM_000214.3(JAG1):c.226A>C (p.Lys76Gln)
NM_000214.3(JAG1):c.2270G>A (p.Gly757Asp) rs2514512969
NM_000214.3(JAG1):c.2275T>A (p.Cys759Ser)
NM_000214.3(JAG1):c.2283C>T (p.Val761=) rs2514512944
NM_000214.3(JAG1):c.2288G>T (p.Gly763Val) rs2514512938
NM_000214.3(JAG1):c.2290G>A (p.Glu764Lys) rs1017323234
NM_000214.3(JAG1):c.2300C>A (p.Thr767Lys) rs140330283
NM_000214.3(JAG1):c.2300C>G (p.Thr767Arg) rs140330283
NM_000214.3(JAG1):c.2312A>C (p.Lys771Thr) rs149949294
NM_000214.3(JAG1):c.2318G>A (p.Gly773Asp) rs2514512876
NM_000214.3(JAG1):c.2319C>T (p.Gly773=) rs2122602306
NM_000214.3(JAG1):c.2329C>A (p.Pro777Thr) rs202063628
NM_000214.3(JAG1):c.2333T>C (p.Ile778Thr) rs767504037
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.2344+6T>C rs2067296518
NM_000214.3(JAG1):c.2345-8_2345-6del rs1396652277
NM_000214.3(JAG1):c.2356T>G (p.Cys786Gly)
NM_000214.3(JAG1):c.2372+3_2372+6del rs2067293629
NM_000214.3(JAG1):c.2382C>A (p.Ser794Arg) rs56225585
NM_000214.3(JAG1):c.2393T>C (p.Val798Ala) rs1308346607
NM_000214.3(JAG1):c.23G>A (p.Gly8Asp) rs993238320
NM_000214.3(JAG1):c.2414G>C (p.Arg805Pro)
NM_000214.3(JAG1):c.2419G>C (p.Glu807Gln)
NM_000214.3(JAG1):c.2436T>G (p.Phe812Leu)
NM_000214.3(JAG1):c.243G>C (p.Glu81Asp) rs2067506800
NM_000214.3(JAG1):c.2446G>A (p.Asp816Asn) rs374941347
NM_000214.3(JAG1):c.2447A>T (p.Asp816Val) rs2514511570
NM_000214.3(JAG1):c.2458+10G>C rs778204780
NM_000214.3(JAG1):c.2458+4A>C rs2122600423
NM_000214.3(JAG1):c.245A>G (p.Tyr82Cys) rs762389862
NM_000214.3(JAG1):c.2461A>G (p.Ile821Val)
NM_000214.3(JAG1):c.2465A>G (p.Asn822Ser)
NM_000214.3(JAG1):c.2510A>T (p.Asp837Val) rs2067280200
NM_000214.3(JAG1):c.2511T>G (p.Asp837Glu) rs2067280179
NM_000214.3(JAG1):c.2515A>T (p.Ile839Phe) rs2514510485
NM_000214.3(JAG1):c.2522G>A (p.Gly841Asp) rs1568792702
NM_000214.3(JAG1):c.2525A>T (p.Tyr842Phe)
NM_000214.3(JAG1):c.2539C>A (p.Pro847Thr) rs2514510447
NM_000214.3(JAG1):c.253C>T (p.Arg85Cys) rs2122644586
NM_000214.3(JAG1):c.2555G>A (p.Gly852Asp)
NM_000214.3(JAG1):c.2555G>T (p.Gly852Val) rs1317628159
NM_000214.3(JAG1):c.2557G>T (p.Ala853Ser) rs967515336
NM_000214.3(JAG1):c.2569G>A (p.Glu857Lys) rs2030438986
NM_000214.3(JAG1):c.256G>T (p.Val86Phe)
NM_000214.3(JAG1):c.2572+4T>C rs752615892
NM_000214.3(JAG1):c.2579G>A (p.Gly860Glu) rs762121866
NM_000214.3(JAG1):c.2604T>A (p.Ser868Arg) rs138189639
NM_000214.3(JAG1):c.260C>G (p.Thr87Arg) rs776251575
NM_000214.3(JAG1):c.2611C>A (p.Pro871Thr)
NM_000214.3(JAG1):c.2616T>G (p.Asp872Glu)
NM_000214.3(JAG1):c.2618G>C (p.Gly873Ala) rs2514509582
NM_000214.3(JAG1):c.262G>A (p.Ala88Thr) rs1368255658
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.2652G>T (p.Gln884His) rs373648665
NM_000214.3(JAG1):c.2653T>C (p.Cys885Arg) rs1568792271
NM_000214.3(JAG1):c.2665C>G (p.Arg889Gly) rs765431150
NM_000214.3(JAG1):c.2665C>T (p.Arg889Trp) rs765431150
NM_000214.3(JAG1):c.2675G>A (p.Cys892Tyr) rs2514509499
NM_000214.3(JAG1):c.2682+8A>G rs560065330
NM_000214.3(JAG1):c.2682G>A (p.Lys894=)
NM_000214.3(JAG1):c.2682G>T (p.Lys894Asn) rs1896874855
NM_000214.3(JAG1):c.26G>C (p.Arg9Pro) rs1248965484
NM_000214.3(JAG1):c.2705G>C (p.Cys902Ser) rs876661122
NM_000214.3(JAG1):c.2715C>T (p.His905=) rs2122596864
NM_000214.3(JAG1):c.2716A>C (p.Lys906Gln) rs2067273359
NM_000214.3(JAG1):c.2717_2725dup (p.His908_Ser909insLysGlyHis) rs2514509294
NM_000214.3(JAG1):c.271C>G (p.Pro91Ala) rs2514537839
NM_000214.3(JAG1):c.2728_2748del (p.Glu910_Ser916del) rs1568792111
NM_000214.3(JAG1):c.2750G>C (p.Cys917Ser) rs2514509237
NM_000214.3(JAG1):c.2752A>G (p.Ile918Val) rs773431867
NM_000214.3(JAG1):c.2759T>C (p.Ile920Thr) rs2514509219
NM_000214.3(JAG1):c.2765A>G (p.Asp922Gly) rs2514509213
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.2805G>A (p.Glu935=) rs1568792051
NM_000214.3(JAG1):c.2807G>A (p.Cys936Tyr) rs1568792050
NM_000214.3(JAG1):c.2807G>C (p.Cys936Ser) rs1568792050
NM_000214.3(JAG1):c.2809C>T (p.Arg937Trp) rs779410593
NM_000214.3(JAG1):c.2836A>G (p.Thr946Ala)
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.2866G>C (p.Asp956His) rs372430162
NM_000214.3(JAG1):c.2881A>G (p.Ile961Val) rs1028081494
NM_000214.3(JAG1):c.2887T>C (p.Phe963Leu)
NM_000214.3(JAG1):c.2899_2901del (p.Lys967del) rs2514508997
NM_000214.3(JAG1):c.289G>C (p.Gly97Arg) rs2067506326
NM_000214.3(JAG1):c.2902G>C (p.Glu968Gln) rs894475816
NM_000214.3(JAG1):c.2904G>C (p.Glu968Asp) rs1378948623
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.2920C>G (p.Leu974Val) rs757277327
NM_000214.3(JAG1):c.2923A>G (p.Thr975Ala) rs1476119398
NM_000214.3(JAG1):c.2923A>T (p.Thr975Ser) rs1476119398
NM_000214.3(JAG1):c.2924C>G (p.Thr975Ser)
NM_000214.3(JAG1):c.2926A>G (p.Thr976Ala) rs2514508508
NM_000214.3(JAG1):c.292T>C (p.Ser98Pro) rs1333355200
NM_000214.3(JAG1):c.2932C>T (p.His978Tyr) rs2067268961
NM_000214.3(JAG1):c.2938T>G (p.Cys980Gly) rs2514508482
NM_000214.3(JAG1):c.2939G>C (p.Cys980Ser) rs2122595886
NM_000214.3(JAG1):c.294C>G (p.Ser98=) rs79338570
NM_000214.3(JAG1):c.2957T>C (p.Leu986Ser) rs2514508442
NM_000214.3(JAG1):c.2962A>G (p.Ile988Val) rs2514508424
NM_000214.3(JAG1):c.2966T>G (p.Leu989Trp)
NM_000214.3(JAG1):c.2972A>C (p.Asn991Thr) rs2514508419
NM_000214.3(JAG1):c.2978C>T (p.Ser993Phe) rs2514508409
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.2984A>C (p.Glu995Ala)
NM_000214.3(JAG1):c.2990C>T (p.Ser997Leu) rs2067268487
NM_000214.3(JAG1):c.2995T>C (p.Tyr999His) rs2514508378
NM_000214.3(JAG1):c.2996A>C (p.Tyr999Ser) rs1555827726
NM_000214.3(JAG1):c.29C>T (p.Ser10Phe) rs1179731936
NM_000214.3(JAG1):c.3000C>G (p.Ile1000Met) rs373759023
NM_000214.3(JAG1):c.3002C>T (p.Ala1001Val) rs2122595760
NM_000214.3(JAG1):c.3005G>C (p.Cys1002Ser) rs2514508346
NM_000214.3(JAG1):c.3007G>A (p.Glu1003Lys) rs781509375
NM_000214.3(JAG1):c.3007G>C (p.Glu1003Gln) rs781509375
NM_000214.3(JAG1):c.3016C>T (p.Pro1006Ser) rs2122595723
NM_000214.3(JAG1):c.3017C>G (p.Pro1006Arg) rs747142039
NM_000214.3(JAG1):c.3023C>A (p.Ala1008Glu) rs577307986
NM_000214.3(JAG1):c.3023C>G (p.Ala1008Gly) rs577307986
NM_000214.3(JAG1):c.3023C>T (p.Ala1008Val)
NM_000214.3(JAG1):c.3029A>G (p.Asn1010Ser) rs2067267863
NM_000214.3(JAG1):c.3031G>C (p.Glu1011Gln) rs2514508288
NM_000214.3(JAG1):c.3032A>G (p.Glu1011Gly) rs2067267844
NM_000214.3(JAG1):c.3036A>G (p.Ile1012Met)
NM_000214.3(JAG1):c.3045C>G (p.Ala1015=) rs886043607
NM_000214.3(JAG1):c.3046A>G (p.Ile1016Val)
NM_000214.3(JAG1):c.3047T>C (p.Ile1016Thr)
NM_000214.3(JAG1):c.3048+1G>A rs876661121
NM_000214.3(JAG1):c.3048+1G>T rs876661121
NM_000214.3(JAG1):c.3048+5G>A rs2514508252
NM_000214.3(JAG1):c.3048+7A>G
NM_000214.3(JAG1):c.3061A>C (p.Ile1021Leu) rs757261841
NM_000214.3(JAG1):c.3062T>C (p.Ile1021Thr) rs1736644803
NM_000214.3(JAG1):c.3070G>A (p.Asp1024Asn) rs2514507938
NM_000214.3(JAG1):c.3071A>G (p.Asp1024Gly)
NM_000214.3(JAG1):c.3074G>A (p.Gly1025Glu)
NM_000214.3(JAG1):c.3074_3075delinsAA (p.Gly1025Glu) rs2514507927
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.3080C>T (p.Pro1027Leu)
NM_000214.3(JAG1):c.3083T>C (p.Ile1028Thr) rs761187116
NM_000214.3(JAG1):c.3097G>C (p.Asp1033His) rs772228887
NM_000214.3(JAG1):c.3099C>G (p.Asp1033Glu) rs1370741944
NM_000214.3(JAG1):c.3109G>C (p.Asp1037His)
NM_000214.3(JAG1):c.310G>A (p.Gly104Ser) rs2514537771
NM_000214.3(JAG1):c.3112C>G (p.Leu1038Val) rs139934091
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.314A>G (p.Asn105Ser) rs1568806951
NM_000214.3(JAG1):c.3152C>T (p.Ala1051Val)
NM_000214.3(JAG1):c.3157G>A (p.Ala1053Thr) rs2067265410
NM_000214.3(JAG1):c.3164T>A (p.Val1055Glu) rs2067265295
NM_000214.3(JAG1):c.3169G>A (p.Val1057Ile) rs374758954
NM_000214.3(JAG1):c.3169G>C (p.Val1057Leu) rs374758954
NM_000214.3(JAG1):c.3170T>C (p.Val1057Ala) rs2122594991
NM_000214.3(JAG1):c.3195A>C (p.Arg1065Ser) rs2067265121
NM_000214.3(JAG1):c.31G>A (p.Gly11Arg)
NM_000214.3(JAG1):c.3206T>C (p.Leu1069Pro) rs2514506767
NM_000214.3(JAG1):c.3208G>A (p.Val1070Ile) rs2514506764
NM_000214.3(JAG1):c.3226G>A (p.Val1076Ile) rs2514506734
NM_000214.3(JAG1):c.322A>C (p.Asn108His) rs1242473299
NM_000214.3(JAG1):c.322A>G (p.Asn108Asp)
NM_000214.3(JAG1):c.3230T>G (p.Leu1077Ter) rs2514506725
NM_000214.3(JAG1):c.3243G>A (p.Trp1081Ter) rs2514506705
NM_000214.3(JAG1):c.3244A>G (p.Ile1082Val)
NM_000214.3(JAG1):c.3255G>C (p.Leu1085Phe) rs2514506693
NM_000214.3(JAG1):c.3256G>A (p.Val1086Met) rs1334024757
NM_000214.3(JAG1):c.3257dup (p.Thr1087fs) rs2067258384
NM_000214.3(JAG1):c.3259A>G (p.Thr1087Ala) rs1600177820
NM_000214.3(JAG1):c.3263C>A (p.Ala1088Asp)
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.3289C>G (p.Arg1097Gly)
NM_000214.3(JAG1):c.3301A>G (p.Ser1101Gly)
NM_000214.3(JAG1):c.3308C>A (p.Thr1103Lys) rs781429347
NM_000214.3(JAG1):c.3308_3309delinsAC (p.Thr1103Asn) rs1555827516
NM_000214.3(JAG1):c.3308del (p.Thr1103fs) rs869312854
NM_000214.3(JAG1):c.3309A>C (p.Thr1103=) rs1259778353
NM_000214.3(JAG1):c.331G>A (p.Ala111Thr) rs763966262
NM_000214.3(JAG1):c.3325G>A (p.Asp1109Asn) rs1044765003
NM_000214.3(JAG1):c.3325G>T (p.Asp1109Tyr) rs1044765003
NM_000214.3(JAG1):c.3328A>G (p.Asn1110Asp) rs2514506575
NM_000214.3(JAG1):c.3329A>G (p.Asn1110Ser) rs150811951
NM_000214.3(JAG1):c.3331A>G (p.Thr1111Ala) rs2514506566
NM_000214.3(JAG1):c.3335C>A (p.Thr1112Asn)
NM_000214.3(JAG1):c.3335C>G (p.Thr1112Ser)
NM_000214.3(JAG1):c.3338A>C (p.Asn1113Thr) rs371118939
NM_000214.3(JAG1):c.3340A>G (p.Asn1114Asp) rs2514506554
NM_000214.3(JAG1):c.3349G>A (p.Glu1117Lys)
NM_000214.3(JAG1):c.3351G>C (p.Glu1117Asp) rs1568790865
NM_000214.3(JAG1):c.3353A>T (p.Gln1118Leu)
NM_000214.3(JAG1):c.3353_3354delinsCC (p.Gln1118Pro) rs2122593353
NM_000214.3(JAG1):c.337C>G (p.Arg113Gly)
NM_000214.3(JAG1):c.3391G>T (p.Ala1131Ser) rs769242977
NM_000214.3(JAG1):c.3417_3418inv (p.Glu1140Lys)
NM_000214.3(JAG1):c.3431C>G (p.Ser1144Cys) rs1384462228
NM_000214.3(JAG1):c.343A>G (p.Asn115Asp) rs2122644398
NM_000214.3(JAG1):c.3458A>G (p.Asn1153Ser)
NM_000214.3(JAG1):c.3460T>C (p.Ser1154Pro) rs2122593151
NM_000214.3(JAG1):c.3472G>A (p.Glu1158Lys)
NM_000214.3(JAG1):c.3474G>T (p.Glu1158Asp)
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.3484G>A (p.Asp1162Asn) rs753832570
NM_000214.3(JAG1):c.3487A>G (p.Lys1163Glu) rs2514506319
NM_000214.3(JAG1):c.349C>G (p.Arg117Gly) rs752608779
NM_000214.3(JAG1):c.3505C>G (p.Arg1169Gly) rs368162343
NM_000214.3(JAG1):c.3505C>T (p.Arg1169Trp) rs368162343
NM_000214.3(JAG1):c.3510T>G (p.Phe1170Leu) rs2514506292
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.3530C>G (p.Thr1177Arg) rs533237399
NM_000214.3(JAG1):c.3535G>A (p.Val1179Ile) rs2514506247
NM_000214.3(JAG1):c.3545A>T (p.Glu1182Val) rs2514506230
NM_000214.3(JAG1):c.3556C>T (p.Pro1186Ser) rs779605827
NM_000214.3(JAG1):c.3557C>A (p.Pro1186His)
NM_000214.3(JAG1):c.3557C>T (p.Pro1186Leu) 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.3579C>G (p.His1193Gln) rs1251134628
NM_000214.3(JAG1):c.3581C>T (p.Pro1194Leu) rs765275653
NM_000214.3(JAG1):c.3586T>G (p.Trp1196Gly) rs2514506148
NM_000214.3(JAG1):c.3588G>C (p.Trp1196Cys)
NM_000214.3(JAG1):c.358A>G (p.Ile120Val)
NM_000214.3(JAG1):c.3590C>A (p.Thr1197Lys) rs770290396
NM_000214.3(JAG1):c.3596_3599del (p.Lys1199fs)
NM_000214.3(JAG1):c.35G>A (p.Arg12His) rs993180718
NM_000214.3(JAG1):c.3604A>G (p.Asn1202Asp) rs2514506121
NM_000214.3(JAG1):c.360C>G (p.Ile120Met)
NM_000214.3(JAG1):c.3617A>T (p.Glu1206Val) rs562595056
NM_000214.3(JAG1):c.3636C>A (p.Asn1212Lys)
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.3642G>A (p.Met1214Ile)
NM_000214.3(JAG1):c.3643G>C (p.Glu1215Gln)
NM_000214.3(JAG1):c.3644A>C (p.Glu1215Ala) rs2514506074
NM_000214.3(JAG1):c.3648C>A (p.Tyr1216Ter) rs2514506063
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.375T>G (p.Ser125Arg) rs2067505361
NM_000214.3(JAG1):c.376T>G (p.Phe126Val)
NM_000214.3(JAG1):c.379G>A (p.Ala127Thr) rs930247415
NM_000214.3(JAG1):c.379G>T (p.Ala127Ser)
NM_000214.3(JAG1):c.382T>C (p.Trp128Arg) rs1568806888
NM_000214.3(JAG1):c.388-10T>A rs1568803400
NM_000214.3(JAG1):c.388-14T>A rs1374389007
NM_000214.3(JAG1):c.388-16_388-12delinsCAGAGGTCCTATACG rs2514531207
NM_000214.3(JAG1):c.38C>A (p.Pro13His) rs2067513361
NM_000214.3(JAG1):c.391T>C (p.Ser131Pro) rs2514531180
NM_000214.3(JAG1):c.395A>C (p.Tyr132Ser) rs2514531176
NM_000214.3(JAG1):c.397A>T (p.Thr133Ser)
NM_000214.3(JAG1):c.406G>A (p.Val136Met) rs746158749
NM_000214.3(JAG1):c.406G>T (p.Val136Leu) rs746158749
NM_000214.3(JAG1):c.413C>T (p.Ala138Val)
NM_000214.3(JAG1):c.425G>A (p.Ser142Asn) rs1436395839
NM_000214.3(JAG1):c.428A>T (p.Asn143Ile) rs2514531141
NM_000214.3(JAG1):c.433A>G (p.Thr145Ala)
NM_000214.3(JAG1):c.433A>T (p.Thr145Ser)
NM_000214.3(JAG1):c.439+6T>A rs2067434392
NM_000214.3(JAG1):c.446A>C (p.Asp149Ala)
NM_000214.3(JAG1):c.463G>C (p.Ala155Pro) rs2514526708
NM_000214.3(JAG1):c.470A>C (p.His157Pro) rs2122623835
NM_000214.3(JAG1):c.473C>G (p.Ser158Trp) rs747203032
NM_000214.3(JAG1):c.473C>T (p.Ser158Leu) rs747203032
NM_000214.3(JAG1):c.474G>C (p.Ser158=) rs555794483
NM_000214.3(JAG1):c.484_486del (p.Asn162del) rs2514526677
NM_000214.3(JAG1):c.487C>T (p.Pro163Ser) rs2067394475
NM_000214.3(JAG1):c.488C>G (p.Pro163Arg) rs1555829676
NM_000214.3(JAG1):c.490A>G (p.Ser164Gly) rs2514526665
NM_000214.3(JAG1):c.493C>G (p.Arg165Gly) rs749293754
NM_000214.3(JAG1):c.499T>C (p.Trp167Arg) rs2067394353
NM_000214.3(JAG1):c.4C>T (p.Arg2Cys) rs984916696
NM_000214.3(JAG1):c.504G>A (p.Gln168=)
NM_000214.3(JAG1):c.505A>G (p.Thr169Ala) rs2514526639
NM_000214.3(JAG1):c.524G>T (p.Gly175Val) rs2122623743
NM_000214.3(JAG1):c.529G>A (p.Ala177Thr)
NM_000214.3(JAG1):c.52C>A (p.Leu18Ile) rs1333175594
NM_000214.3(JAG1):c.52C>T (p.Leu18Phe) rs1333175594
NM_000214.3(JAG1):c.539A>C (p.Glu180Ala)
NM_000214.3(JAG1):c.542A>G (p.Tyr181Cys)
NM_000214.3(JAG1):c.545A>G (p.Gln182Arg) rs2514526578
NM_000214.3(JAG1):c.546G>C (p.Gln182His) rs2122623700
NM_000214.3(JAG1):c.554T>A (p.Val185Glu) rs2067393827
NM_000214.3(JAG1):c.559T>C (p.Cys187Arg) rs2514526553
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.575A>G (p.Tyr192Cys) rs2067393579
NM_000214.3(JAG1):c.590A>C (p.Asn197Thr) rs2122623617
NM_000214.3(JAG1):c.590A>G (p.Asn197Ser) rs2122623617
NM_000214.3(JAG1):c.59T>C (p.Leu20Pro) rs1568807442
NM_000214.3(JAG1):c.5G>A (p.Arg2His) rs1026004197
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.617T>A (p.Phe206Tyr)
NM_000214.3(JAG1):c.61C>G (p.Leu21Val) rs2514538966
NM_000214.3(JAG1):c.620T>C (p.Phe207Ser)
NM_000214.3(JAG1):c.627C>A (p.His209Gln) rs2067393373
NM_000214.3(JAG1):c.62T>C (p.Leu21Pro) rs876660977
NM_000214.3(JAG1):c.635G>A (p.Cys212Tyr) rs2514526468
NM_000214.3(JAG1):c.635G>C (p.Cys212Ser) rs2514526468
NM_000214.3(JAG1):c.644A>G (p.Asn215Ser) rs2514526463
NM_000214.3(JAG1):c.647G>T (p.Gly216Val) rs2514526454
NM_000214.3(JAG1):c.64T>C (p.Cys22Arg) rs1555831004
NM_000214.3(JAG1):c.650A>G (p.Asn217Ser) rs2514526448
NM_000214.3(JAG1):c.651C>A (p.Asn217Lys) rs2514526446
NM_000214.3(JAG1):c.665A>G (p.Glu222Gly) rs768447647
NM_000214.3(JAG1):c.666A>C (p.Glu222Asp)
NM_000214.3(JAG1):c.677G>A (p.Gly226Asp) rs2514526409
NM_000214.3(JAG1):c.67G>T (p.Ala23Ser) rs2067513128
NM_000214.3(JAG1):c.694+3_694+4del rs1235111413
NM_000214.3(JAG1):c.694+80A>G rs2067392338
NM_000214.3(JAG1):c.695-10dup rs762788344
NM_000214.3(JAG1):c.703C>G (p.Arg235Gly)
NM_000214.3(JAG1):c.709G>A (p.Gly237Ser) rs1307772971
NM_000214.3(JAG1):c.711C>T (p.Gly237=) rs1555829409
NM_000214.3(JAG1):c.713G>A (p.Cys238Tyr) rs2122620330
NM_000214.3(JAG1):c.716G>A (p.Ser239Asn) rs2067379682
NM_000214.3(JAG1):c.719C>T (p.Pro240Leu) rs2514524472
NM_000214.3(JAG1):c.71T>C (p.Leu24Pro) rs1135401949
NM_000214.3(JAG1):c.721A>G (p.Lys241Glu)
NM_000214.3(JAG1):c.724C>T (p.His242Tyr)
NM_000214.3(JAG1):c.725A>G (p.His242Arg) rs2514524457
NM_000214.3(JAG1):c.733T>C (p.Cys245Arg) rs2122620282
NM_000214.3(JAG1):c.736A>G (p.Lys246Glu)
NM_000214.3(JAG1):c.744A>T (p.Pro248=) rs10485741
NM_000214.3(JAG1):c.746G>A (p.Gly249Asp)
NM_000214.3(JAG1):c.755G>A (p.Arg252Lys) rs2514524403
NM_000214.3(JAG1):c.757T>C (p.Cys253Arg) rs2122615195
NM_000214.3(JAG1):c.764_765inv (p.Tyr255Cys)
NM_000214.3(JAG1):c.766G>A (p.Gly256Ser)
NM_000214.3(JAG1):c.76G>A (p.Ala26Thr) rs2067513063
NM_000214.3(JAG1):c.771G>T (p.Trp257Cys) rs868134621
NM_000214.3(JAG1):c.772C>G (p.Gln258Glu) rs1261155576
NM_000214.3(JAG1):c.775G>A (p.Gly259Ser) rs2514521790
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.779T>C (p.Leu260Pro) rs2067354525
NM_000214.3(JAG1):c.77C>T (p.Ala26Val) rs2122645833
NM_000214.3(JAG1):c.785G>A (p.Cys262Tyr) rs2514521770
NM_000214.3(JAG1):c.793T>G (p.Cys265Gly) rs2514521755
NM_000214.3(JAG1):c.805C>G (p.Pro269Ala)
NM_000214.3(JAG1):c.805C>T (p.Pro269Ser) rs2514521742
NM_000214.3(JAG1):c.806C>T (p.Pro269Leu) rs797044956
NM_000214.3(JAG1):c.813C>G (p.Cys271Trp) rs766245856
NM_000214.3(JAG1):c.815T>A (p.Val272Asp) rs773279294
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.826T>C (p.Cys276Arg) rs2067354186
NM_000214.3(JAG1):c.827G>C (p.Cys276Ser)
NM_000214.3(JAG1):c.830A>T (p.Asn277Ile) rs773901285
NM_000214.3(JAG1):c.838T>G (p.Trp280Gly) rs2514521710
NM_000214.3(JAG1):c.850T>C (p.Cys284Arg) rs2514521701
NM_000214.3(JAG1):c.851G>A (p.Cys284Tyr) rs1555829067
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.857C>T (p.Thr286Ile)
NM_000214.3(JAG1):c.866G>A (p.Gly289Asp) rs2122615016
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.872A>G (p.Gln291Arg)
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.882C>A (p.Asp294Glu) rs2122614970
NM_000214.3(JAG1):c.886+5G>A rs1173329664
NM_000214.3(JAG1):c.89G>A (p.Gly30Glu) rs2514538157
NM_000214.3(JAG1):c.913C>T (p.Pro305Ser)
NM_000214.3(JAG1):c.920T>C (p.Leu307Pro) rs2514521356
NM_000214.3(JAG1):c.925G>A (p.Gly309Arg)
NM_000214.3(JAG1):c.925G>C (p.Gly309Arg) rs750195672
NM_000214.3(JAG1):c.925G>T (p.Gly309Trp) rs750195672
NM_000214.3(JAG1):c.958T>C (p.Tyr320His) rs2122614423
NM_000214.3(JAG1):c.95C>T (p.Ser32Leu)
NM_000214.3(JAG1):c.962A>G (p.Gln321Arg) rs2067351426
NM_000214.3(JAG1):c.968C>G (p.Ser323Cys)
NM_000214.3(JAG1):c.96G>C (p.Ser32=)
NM_000214.3(JAG1):c.980G>C (p.Gly327Ala) rs2514521291
NM_000214.3(JAG1):c.992C>A (p.Pro331His) rs886044339
NM_000214.3(JAG1):c.994A>T (p.Asn332Tyr) rs562158374
NM_000214.3(JAG1):c.998G>A (p.Cys333Tyr) rs2122614331

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