ClinVar Miner

List of variants reported as likely benign for Alagille syndrome due to a JAG1 point mutation by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 534
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HGVS dbSNP gnomAD frequency
NM_000214.3(JAG1):c.2231G>A (p.Arg744Gln) rs147809756 0.00069
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.814G>A (p.Val272Ile) rs148990028 0.00041
NM_000214.3(JAG1):c.894T>C (p.Asn298=) rs149897344 0.00039
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.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.2073T>C (p.Cys691=) rs200648035 0.00019
NM_000214.3(JAG1):c.1628G>A (p.Arg543His) rs544877858 0.00016
NM_000214.3(JAG1):c.2979C>T (p.Ser993=) rs542976402 0.00016
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.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.1115C>T (p.Ser372Phe) rs772669312 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.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.1344C>T (p.Asp448=) rs754081766 0.00007
NM_000214.3(JAG1):c.2517C>T (p.Ile839=) rs560603550 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.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.3333C>T (p.Thr1111=) rs141439542 0.00006
NM_000214.3(JAG1):c.3343G>A (p.Val1115Met) rs148373907 0.00006
NM_000214.3(JAG1):c.3638G>A (p.Arg1213Gln) rs138007561 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.2927C>T (p.Thr976Met) rs751809412 0.00005
NM_000214.3(JAG1):c.3521C>T (p.Pro1174Leu) rs775363555 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.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.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.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.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.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.1309G>A (p.Asp437Asn) rs758876727 0.00002
NM_000214.3(JAG1):c.1396-17C>T rs188166112 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.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.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.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.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.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.1349-19T>G rs766274191 0.00001
NM_000214.3(JAG1):c.1377G>C (p.Gln459His) rs762746994 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.1536G>A (p.Leu512=) rs375773178 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.1668G>A (p.Glu556=) rs771304287 0.00001
NM_000214.3(JAG1):c.1680C>T (p.Cys560=) rs886041868 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.1794C>T (p.Val598=) rs200580391 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.2124G>A (p.Gln708=) rs1366697758 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.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.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.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.2528G>A (p.Arg843Gln) rs751448440 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.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.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.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.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.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.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.3506G>A (p.Arg1169Gln) rs1268561604 0.00001
NM_000214.3(JAG1):c.3524C>T (p.Ala1175Val) rs918046091 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.390G>A (p.Arg130=) rs1417166073 0.00001
NM_000214.3(JAG1):c.474G>A (p.Ser158=) rs555794483 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.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.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.1006+16T>A
NM_000214.3(JAG1):c.1007-12del
NM_000214.3(JAG1):c.1014C>T (p.His338=) rs199971175
NM_000214.3(JAG1):c.1023C>T (p.Leu341=) rs1297627471
NM_000214.3(JAG1):c.1092A>G (p.Pro364=)
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.117C>A (p.Ile39=)
NM_000214.3(JAG1):c.1209G>A (p.Gln403=)
NM_000214.3(JAG1):c.120G>C (p.Leu40=) rs1000010346
NM_000214.3(JAG1):c.1224G>T (p.Thr408=) rs771839716
NM_000214.3(JAG1):c.1235-18A>T
NM_000214.3(JAG1):c.123C>T (p.Ser41=) rs761894056
NM_000214.3(JAG1):c.1266A>T (p.Val422=)
NM_000214.3(JAG1):c.1269C>T (p.Asn423=)
NM_000214.3(JAG1):c.1274A>G (p.Lys425Arg)
NM_000214.3(JAG1):c.1290C>T (p.Leu430=)
NM_000214.3(JAG1):c.1302C>T (p.Tyr434=)
NM_000214.3(JAG1):c.1320C>T (p.Pro440=)
NM_000214.3(JAG1):c.133G>A (p.Val45Met)
NM_000214.3(JAG1):c.1349-18G>A
NM_000214.3(JAG1):c.1349-19_1349-17del rs756384545
NM_000214.3(JAG1):c.1349-9_1349-6del rs764798214
NM_000214.3(JAG1):c.135G>T (p.Val45=)
NM_000214.3(JAG1):c.1386C>T (p.Ala462=)
NM_000214.3(JAG1):c.1395+17T>C rs1427080762
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.1396-27TC[4] rs544547916
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.1407T>C (p.Asn469=) rs141725884
NM_000214.3(JAG1):c.1427C>T (p.Pro476Leu)
NM_000214.3(JAG1):c.1434C>T (p.Gly478=) rs2122608947
NM_000214.3(JAG1):c.1446T>C (p.Asp482=) rs2122608906
NM_000214.3(JAG1):c.1461C>T (p.Asp487=)
NM_000214.3(JAG1):c.1465G>A (p.Asp489Asn) rs370107709
NM_000214.3(JAG1):c.153C>T (p.Asn51=) rs2067507683
NM_000214.3(JAG1):c.1569+12C>A
NM_000214.3(JAG1):c.1569+17C>T rs2122608633
NM_000214.3(JAG1):c.1570-17G>T
NM_000214.3(JAG1):c.1570-7T>C
NM_000214.3(JAG1):c.1570C>T (p.Leu524=) rs774864063
NM_000214.3(JAG1):c.1596T>C (p.Asn532=)
NM_000214.3(JAG1):c.165C>T (p.Cys55=) rs746259131
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.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.174C>G (p.Ala58=)
NM_000214.3(JAG1):c.174C>T (p.Ala58=)
NM_000214.3(JAG1):c.1764T>G (p.Pro588=)
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.1827G>C (p.Ser609=) rs779802470
NM_000214.3(JAG1):c.1827G>T (p.Ser609=)
NM_000214.3(JAG1):c.182C>T (p.Pro61Leu)
NM_000214.3(JAG1):c.1839C>T (p.Phe613=)
NM_000214.3(JAG1):c.1845T>C (p.Cys615=)
NM_000214.3(JAG1):c.1866G>C (p.Thr622=) rs140624746
NM_000214.3(JAG1):c.1872A>G (p.Thr624=)
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.18G>A (p.Thr6=) rs576539291
NM_000214.3(JAG1):c.1916G>A (p.Arg639Lys)
NM_000214.3(JAG1):c.192C>A (p.Arg64=)
NM_000214.3(JAG1):c.1946A>G (p.Asn649Ser)
NM_000214.3(JAG1):c.1952A>T (p.Tyr651Phe) rs754081691
NM_000214.3(JAG1):c.1999+17_1999+18del
NM_000214.3(JAG1):c.1999+20G>A
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.2088G>A (p.Gly696=)
NM_000214.3(JAG1):c.2097A>G (p.Gly699=)
NM_000214.3(JAG1):c.2113+16C>A
NM_000214.3(JAG1):c.2113+16C>T rs2067301201
NM_000214.3(JAG1):c.2114-18T>G rs766999933
NM_000214.3(JAG1):c.2114-4C>T
NM_000214.3(JAG1):c.2115T>C (p.Arg705=) rs2122603103
NM_000214.3(JAG1):c.2157C>A (p.Thr719=) rs2122602999
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.2198G>C (p.Gly733Ala)
NM_000214.3(JAG1):c.219A>G (p.Thr73=)
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>G rs1163165774
NM_000214.3(JAG1):c.2228-18T>C
NM_000214.3(JAG1):c.2247G>C (p.Leu749=)
NM_000214.3(JAG1):c.2247G>T (p.Leu749=) rs982976067
NM_000214.3(JAG1):c.2295C>G (p.Ser765=)
NM_000214.3(JAG1):c.2334C>T (p.Ile778=) rs1270085831
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+9C>G
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.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+7G>A
NM_000214.3(JAG1):c.2388C>T (p.Thr796=)
NM_000214.3(JAG1):c.2394G>A (p.Val798=)
NM_000214.3(JAG1):c.2412C>T (p.Tyr804=) rs2122600550
NM_000214.3(JAG1):c.2415G>C (p.Arg805=)
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.2442G>A (p.Gly814=)
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.2459-12C>T
NM_000214.3(JAG1):c.2459-15del
NM_000214.3(JAG1):c.2529G>T (p.Arg843=)
NM_000214.3(JAG1):c.2538C>T (p.Cys846=) rs2122598522
NM_000214.3(JAG1):c.2565C>T (p.Cys855=) rs1230847690
NM_000214.3(JAG1):c.2572+14G>T rs1314044373
NM_000214.3(JAG1):c.2572+17T>C
NM_000214.3(JAG1):c.2572+9G>T
NM_000214.3(JAG1):c.2573-16_2573-7del
NM_000214.3(JAG1):c.2579G>A (p.Gly860Glu) rs762121866
NM_000214.3(JAG1):c.2579G>C (p.Gly860Ala)
NM_000214.3(JAG1):c.2645C>T (p.Thr882Ile)
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.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.2683-17C>T
NM_000214.3(JAG1):c.2700A>G (p.Arg900=)
NM_000214.3(JAG1):c.2700A>T (p.Arg900=)
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.2752A>G (p.Ile918Val) rs773431867
NM_000214.3(JAG1):c.2758A>T (p.Ile920Phe) rs1252730791
NM_000214.3(JAG1):c.2766C>A (p.Asp922Glu)
NM_000214.3(JAG1):c.2790C>T (p.Cys930=)
NM_000214.3(JAG1):c.2805G>A (p.Glu935=) rs1568792051
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.288A>G (p.Ser96=)
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.2917-20G>T
NM_000214.3(JAG1):c.294C>G (p.Ser98=) rs79338570
NM_000214.3(JAG1):c.2973T>C (p.Asn991=) rs1317729135
NM_000214.3(JAG1):c.2982T>A (p.Ala994=) rs1340131717
NM_000214.3(JAG1):c.3000C>T (p.Ile1000=) rs373759023
NM_000214.3(JAG1):c.3001G>T (p.Ala1001Ser)
NM_000214.3(JAG1):c.3007G>A (p.Glu1003Lys) rs781509375
NM_000214.3(JAG1):c.3009G>A (p.Glu1003=)
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.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.3180G>A (p.Arg1060=) rs2122594977
NM_000214.3(JAG1):c.3183T>G (p.Pro1061=)
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.3228C>T (p.Val1076=)
NM_000214.3(JAG1):c.3233C>G (p.Thr1078Ser) rs767851768
NM_000214.3(JAG1):c.3284A>G (p.Lys1095Arg)
NM_000214.3(JAG1):c.3313T>A (p.Ser1105Thr)
NM_000214.3(JAG1):c.3329A>G (p.Asn1110Ser) rs150811951
NM_000214.3(JAG1):c.332C>T (p.Ala111Val)
NM_000214.3(JAG1):c.3360C>T (p.Asn1120=) rs1157149628
NM_000214.3(JAG1):c.3390G>A (p.Gly1130=)
NM_000214.3(JAG1):c.3399G>A (p.Thr1133=)
NM_000214.3(JAG1):c.3408C>A (p.Ile1136=)
NM_000214.3(JAG1):c.3410A>G (p.Lys1137Arg)
NM_000214.3(JAG1):c.3456C>T (p.His1152=)
NM_000214.3(JAG1):c.3481A>G (p.Met1161Val)
NM_000214.3(JAG1):c.3492C>T (p.His1164=)
NM_000214.3(JAG1):c.349C>G (p.Arg117Gly) rs752608779
NM_000214.3(JAG1):c.3505C>T (p.Arg1169Trp)
NM_000214.3(JAG1):c.3522G>A (p.Pro1174=) rs1413360004
NM_000214.3(JAG1):c.3531G>A (p.Thr1177=) rs778296544
NM_000214.3(JAG1):c.3531G>T (p.Thr1177=)
NM_000214.3(JAG1):c.3534G>T (p.Leu1178=)
NM_000214.3(JAG1):c.3540C>T (p.Asp1180=) rs963076704
NM_000214.3(JAG1):c.3557C>G (p.Pro1186Arg) rs886357715
NM_000214.3(JAG1):c.3569C>T (p.Pro1190Leu)
NM_000214.3(JAG1):c.3589A>G (p.Thr1197Ala) rs776209860
NM_000214.3(JAG1):c.360C>T (p.Ile120=) rs1199774396
NM_000214.3(JAG1):c.3649A>C (p.Ile1217Leu)
NM_000214.3(JAG1):c.36C>A (p.Arg12=) rs886042810
NM_000214.3(JAG1):c.373A>G (p.Ser125Gly)
NM_000214.3(JAG1):c.387+10dup rs1464058487
NM_000214.3(JAG1):c.387+15G>C rs760979506
NM_000214.3(JAG1):c.388-12T>G rs2122632237
NM_000214.3(JAG1):c.388-13G>C rs1445257289
NM_000214.3(JAG1):c.388-18_388-17insCAGAG
NM_000214.3(JAG1):c.388-19TTGT[2] rs750004416
NM_000214.3(JAG1):c.388-8del
NM_000214.3(JAG1):c.396T>C (p.Tyr132=)
NM_000214.3(JAG1):c.39C>T (p.Pro13=) rs2122645916
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.439+11C>T
NM_000214.3(JAG1):c.439+13T>C
NM_000214.3(JAG1):c.439+16G>A
NM_000214.3(JAG1):c.440-19T>G
NM_000214.3(JAG1):c.468T>C (p.Ser156=) rs2122623838
NM_000214.3(JAG1):c.48C>T (p.Leu16=) rs901489977
NM_000214.3(JAG1):c.493C>T (p.Arg165Trp) rs749293754
NM_000214.3(JAG1):c.495G>T (p.Arg165=)
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.54C>T (p.Leu18=)
NM_000214.3(JAG1):c.552C>T (p.Arg184=)
NM_000214.3(JAG1):c.558C>T (p.Thr186=) rs776616206
NM_000214.3(JAG1):c.566A>G (p.Asp189Gly)
NM_000214.3(JAG1):c.606C>T (p.Pro202=) rs2122623600
NM_000214.3(JAG1):c.630T>C (p.Tyr210=)
NM_000214.3(JAG1):c.636T>C (p.Cys212=) rs1178684049
NM_000214.3(JAG1):c.661A>G (p.Met221Val)
NM_000214.3(JAG1):c.684A>G (p.Glu228=) rs2122623475
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+4TG[6]
NM_000214.3(JAG1):c.723G>A (p.Lys241=) rs2122620300
NM_000214.3(JAG1):c.729G>A (p.Gly243=)
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.798C>T (p.Ile266=) rs2122615138
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.82-16C>T
NM_000214.3(JAG1):c.82-19C>T rs2067508451
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.822C>T (p.Gly274=)
NM_000214.3(JAG1):c.831T>C (p.Asn277=) rs2122615074
NM_000214.3(JAG1):c.886+15del rs2122614945
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.927G>A (p.Gly309=)
NM_000214.3(JAG1):c.927G>T (p.Gly309=)
NM_000214.3(JAG1):c.933T>C (p.Thr311=)
NM_000214.3(JAG1):c.939C>T (p.Ser313=)
NM_000214.3(JAG1):c.945A>G (p.Thr315=) rs1158585077

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