ClinVar Miner

List of variants studied for DNA ligase IV deficiency

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ClinVar version:
Total variants: 698
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HGVS dbSNP gnomAD frequency
NM_206937.2(LIG4):c.26C>T (p.Thr9Ile) rs1805388 0.16468
NM_206937.2(LIG4):c.1704T>C (p.Asp568=) rs1805386 0.13864
NM_206937.2(LIG4):c.*1035G>A rs10131 0.11700
NM_206937.2(LIG4):c.*677A>G rs3093772 0.09986
NM_206937.2(LIG4):c.8C>T (p.Ala3Val) rs1805389 0.04996
NM_206937.2(LIG4):c.*1081C>T rs113388531 0.03279
NM_206937.2(LIG4):c.*826A>T rs116018061 0.03278
NM_206937.2(LIG4):c.*685T>C rs116798101 0.03277
NM_206937.2(LIG4):c.*983G>A rs75642465 0.03277
NM_206937.2(LIG4):c.807C>T (p.Tyr269=) rs2232638 0.03276
NM_206937.2(LIG4):c.*204A>G rs3093769 0.03275
NM_206937.2(LIG4):c.*131A>T rs3093768 0.03272
NM_206937.2(LIG4):c.2569G>A (p.Ala857Thr) rs2232642 0.03272
NM_206937.2(LIG4):c.*562_*563insAAT rs112171260 0.03265
NM_206937.2(LIG4):c.*855_*856insTTTT rs146506306 0.03264
NM_206937.2(LIG4):c.-7C>T rs4987182 0.03244
NM_206937.2(LIG4):c.-101-172C>T rs1805387 0.02719
NM_206937.2(LIG4):c.*129A>G rs3093767 0.02174
NM_206937.2(LIG4):c.*54G>A rs2232643 0.01584
NM_206937.2(LIG4):c.513T>C (p.Leu171=) rs3093764 0.00779
NM_206937.2(LIG4):c.*104C>G rs2232644 0.00690
NM_206937.2(LIG4):c.*3del rs551263548 0.00602
NM_206937.2(LIG4):c.1798G>A (p.Glu600Lys) rs61731910 0.00599
NM_206937.2(LIG4):c.-101-95G>A rs1805385 0.00533
NM_206937.2(LIG4):c.915T>C (p.Ser305=) rs2232639 0.00524
NM_206937.2(LIG4):c.*614A>C rs3093771 0.00359
NM_206937.2(LIG4):c.180C>T (p.Val60=) rs2232637 0.00342
NM_206937.2(LIG4):c.-29+15T>G rs183107946 0.00310
NM_206937.2(LIG4):c.686A>G (p.His229Arg) rs142957638 0.00196
NM_206937.2(LIG4):c.2389G>T (p.Ala797Ser) rs138936350 0.00131
NM_206937.2(LIG4):c.2525C>A (p.Ala842Asp) rs72660870 0.00129
NM_206937.2(LIG4):c.*736C>G rs201529988 0.00110
NM_206937.2(LIG4):c.*34T>G rs369320737 0.00087
NM_206937.2(LIG4):c.285G>A (p.Glu95=) rs150146196 0.00069
NM_206937.2(LIG4):c.*166G>C rs538355612 0.00056
NM_206937.2(LIG4):c.1288A>T (p.Met430Leu) rs143618179 0.00053
NM_206937.2(LIG4):c.1972A>G (p.Ile658Val) rs2232641 0.00051
NM_206937.2(LIG4):c.691C>T (p.Pro231Ser) rs3093765 0.00048
NM_206937.2(LIG4):c.13C>A (p.Gln5Lys) rs143590752 0.00044
NM_206937.2(LIG4):c.*486A>G rs543340651 0.00043
NM_206937.2(LIG4):c.2222G>A (p.Arg741His) rs143767581 0.00043
NM_206937.2(LIG4):c.*525T>G rs563066834 0.00039
NM_206937.2(LIG4):c.-32C>T rs536441091 0.00039
NM_206937.2(LIG4):c.1739G>A (p.Arg580Gln) rs146616552 0.00037
NM_206937.2(LIG4):c.-101-159G>C rs886049950 0.00036
NM_206937.2(LIG4):c.2016C>G (p.Ser672Arg) rs142144659 0.00036
NM_206937.2(LIG4):c.*738G>A rs567294082 0.00034
NM_206937.2(LIG4):c.1983T>C (p.Asp661=) rs199638675 0.00032
NM_206937.2(LIG4):c.898G>A (p.Asp300Asn) rs143810759 0.00021
NM_206937.2(LIG4):c.712A>G (p.Ile238Val) rs149012859 0.00019
NM_206937.2(LIG4):c.1169G>A (p.Ser390Asn) rs35469724 0.00014
NM_206937.2(LIG4):c.2448C>T (p.His816=) rs368576780 0.00014
NM_206937.2(LIG4):c.2518A>G (p.Ile840Val) rs200369995 0.00014
NM_206937.2(LIG4):c.1246G>T (p.Asp416Tyr) rs148273759 0.00013
NM_206937.2(LIG4):c.1705A>G (p.Met569Val) rs774699419 0.00011
NM_206937.2(LIG4):c.230G>A (p.Arg77Lys) rs199707115 0.00011
NM_206937.2(LIG4):c.*285A>G rs748776641 0.00010
NM_206937.2(LIG4):c.-101-31A>G rs117159741 0.00010
NM_206937.2(LIG4):c.1891G>A (p.Ala631Thr) rs200385778 0.00010
NM_206937.2(LIG4):c.1913T>C (p.Ile638Thr) rs372158210 0.00009
NM_206937.2(LIG4):c.2245T>C (p.Ser749Pro) rs138080550 0.00009
NM_206937.2(LIG4):c.2390C>T (p.Ala797Val) rs373272193 0.00009
NM_206937.2(LIG4):c.2655G>A (p.Lys885=) rs151271748 0.00009
NM_206937.2(LIG4):c.-101-181T>C rs1009787521 0.00008
NM_206937.2(LIG4):c.1473C>G (p.Pro491=) rs189319839 0.00008
NM_206937.2(LIG4):c.1604C>T (p.Pro535Leu) rs374074342 0.00008
NM_206937.2(LIG4):c.1756G>C (p.Asp586His) rs753492255 0.00008
NM_206937.2(LIG4):c.2425C>G (p.Pro809Ala) rs137899041 0.00008
NM_206937.2(LIG4):c.2440C>T (p.Arg814Ter) rs104894419 0.00007
NM_206937.2(LIG4):c.2549C>T (p.Ala850Val) rs188422094 0.00007
NM_206937.2(LIG4):c.1437G>T (p.Met479Ile) rs529839175 0.00006
NM_206937.2(LIG4):c.1496T>C (p.Val499Ala) rs201683262 0.00006
NM_206937.2(LIG4):c.1830C>T (p.Leu610=) rs768563098 0.00006
NM_206937.2(LIG4):c.208C>T (p.Leu70=) rs193107403 0.00006
NM_206937.2(LIG4):c.2300T>C (p.Ile767Thr) rs750390328 0.00006
NM_206937.2(LIG4):c.2310C>T (p.Asp770=) rs776444477 0.00006
NM_206937.2(LIG4):c.500T>G (p.Ile167Arg) rs138021217 0.00006
NM_206937.2(LIG4):c.*242A>G rs886049946 0.00005
NM_206937.2(LIG4):c.*306A>G rs886049945 0.00005
NM_206937.2(LIG4):c.1847A>G (p.Tyr616Cys) rs778875030 0.00005
NM_206937.2(LIG4):c.1882C>T (p.Arg628Trp) rs755708095 0.00005
NM_206937.2(LIG4):c.381G>C (p.Met127Ile) rs61752350 0.00005
NM_206937.2(LIG4):c.*781A>G rs944422798 0.00004
NM_206937.2(LIG4):c.1208T>C (p.Val403Ala) rs779305286 0.00004
NM_206937.2(LIG4):c.1560G>A (p.Leu520=) rs756164120 0.00004
NM_206937.2(LIG4):c.1607G>A (p.Ser536Asn) rs552242241 0.00004
NM_206937.2(LIG4):c.1831G>A (p.Ala611Thr) rs187323251 0.00004
NM_206937.2(LIG4):c.1855G>A (p.Gly619Ser) rs146381209 0.00004
NM_206937.2(LIG4):c.1954G>A (p.Val652Ile) rs754457967 0.00004
NM_206937.2(LIG4):c.2146A>G (p.Asn716Asp) rs377032117 0.00004
NM_206937.2(LIG4):c.2443C>T (p.Arg815Cys) rs375437614 0.00004
NM_206937.2(LIG4):c.2465C>T (p.Ser822Leu) rs141441003 0.00004
NM_206937.2(LIG4):c.2467T>C (p.Tyr823His) rs376657998 0.00004
NM_206937.2(LIG4):c.2690C>G (p.Ser897Ter) rs750080610 0.00004
NM_206937.2(LIG4):c.34T>A (p.Ser12Thr) rs554949695 0.00004
NM_206937.2(LIG4):c.592G>A (p.Val198Ile) rs151152559 0.00004
NM_206937.2(LIG4):c.607A>G (p.Ile203Val) rs778278351 0.00004
NM_206937.2(LIG4):c.834T>C (p.Arg278=) rs375022046 0.00004
NM_206937.2(LIG4):c.968T>C (p.Ile323Thr) rs376108062 0.00004
NM_206937.2(LIG4):c.1061T>C (p.Met354Thr) rs780950741 0.00003
NM_206937.2(LIG4):c.1791C>T (p.Asp597=) rs144253952 0.00003
NM_206937.2(LIG4):c.1859A>G (p.Asp620Gly) rs748989188 0.00003
NM_206937.2(LIG4):c.2044A>C (p.Ile682Leu) rs375816915 0.00003
NM_206937.2(LIG4):c.2274T>C (p.Tyr758=) rs529756815 0.00003
NM_206937.2(LIG4):c.2284G>A (p.Gly762Ser) rs751782058 0.00003
NM_206937.2(LIG4):c.2355C>T (p.Asn785=) rs148223505 0.00003
NM_206937.2(LIG4):c.2499T>C (p.Asn833=) rs769297575 0.00003
NM_206937.2(LIG4):c.2586T>A (p.His862Gln) rs201115578 0.00003
NM_206937.2(LIG4):c.293A>G (p.Asn98Ser) rs143897303 0.00003
NM_206937.2(LIG4):c.959A>G (p.Lys320Arg) rs757762017 0.00003
NM_206937.2(LIG4):c.*291A>G rs1033897436 0.00002
NM_206937.2(LIG4):c.*352A>C rs886049944 0.00002
NM_206937.2(LIG4):c.1065A>G (p.Val355=) rs754614183 0.00002
NM_206937.2(LIG4):c.1252T>C (p.Leu418=) rs147181971 0.00002
NM_206937.2(LIG4):c.1458A>G (p.Ala486=) rs1422541942 0.00002
NM_206937.2(LIG4):c.1513C>T (p.Arg505Cys) rs375284799 0.00002
NM_206937.2(LIG4):c.1639G>A (p.Val547Ile) rs774811336 0.00002
NM_206937.2(LIG4):c.1692C>T (p.Ile564=) rs750170673 0.00002
NM_206937.2(LIG4):c.1751T>C (p.Ile584Thr) rs758274439 0.00002
NM_206937.2(LIG4):c.1792G>A (p.Asp598Asn) rs372708277 0.00002
NM_206937.2(LIG4):c.1971T>C (p.Asn657=) rs764483419 0.00002
NM_206937.2(LIG4):c.2119A>T (p.Ile707Phe) rs370991186 0.00002
NM_206937.2(LIG4):c.2267G>A (p.Arg756His) rs147410837 0.00002
NM_206937.2(LIG4):c.2339G>A (p.Gly780Glu) rs1029380670 0.00002
NM_206937.2(LIG4):c.2401T>G (p.Tyr801Asp) rs758462531 0.00002
NM_206937.2(LIG4):c.2435T>G (p.Met812Arg) rs748716395 0.00002
NM_206937.2(LIG4):c.2445C>A (p.Arg815=) rs755419375 0.00002
NM_206937.2(LIG4):c.2657T>A (p.Phe886Tyr) rs142374894 0.00002
NM_206937.2(LIG4):c.437A>G (p.Gln146Arg) rs754996739 0.00002
NM_206937.2(LIG4):c.526A>C (p.Thr176Pro) rs1211502925 0.00002
NM_206937.2(LIG4):c.563G>A (p.Arg188Gln) rs748385144 0.00002
NM_206937.2(LIG4):c.570C>T (p.Ile190=) rs141102614 0.00002
NM_206937.2(LIG4):c.73C>T (p.Arg25Ter) rs753883369 0.00002
NM_206937.2(LIG4):c.878G>A (p.Arg293Gln) rs775560383 0.00002
NM_206937.2(LIG4):c.*56G>C rs886049947 0.00001
NM_206937.2(LIG4):c.1020A>G (p.Gln340=) rs535025599 0.00001
NM_206937.2(LIG4):c.1035G>A (p.Lys345=) rs1348072213 0.00001
NM_206937.2(LIG4):c.108C>G (p.Ile36Met) rs780698348 0.00001
NM_206937.2(LIG4):c.1094G>T (p.Cys365Phe) rs144322912 0.00001
NM_206937.2(LIG4):c.1171A>G (p.Ser391Gly) rs1357544473 0.00001
NM_206937.2(LIG4):c.1193G>A (p.Gly398Asp) rs538646268 0.00001
NM_206937.2(LIG4):c.1204A>G (p.Ile402Val) rs374180232 0.00001
NM_206937.2(LIG4):c.1231A>G (p.Lys411Glu) rs753182650 0.00001
NM_206937.2(LIG4):c.1236T>A (p.Asn412Lys) rs755358293 0.00001
NM_206937.2(LIG4):c.1239A>G (p.Glu413=) rs1342090676 0.00001
NM_206937.2(LIG4):c.1242A>C (p.Val414=) rs150828164 0.00001
NM_206937.2(LIG4):c.1244T>C (p.Ile415Thr) rs1216434992 0.00001
NM_206937.2(LIG4):c.1312T>C (p.Tyr438His) rs886037777 0.00001
NM_206937.2(LIG4):c.1337G>C (p.Gly446Ala) rs199934893 0.00001
NM_206937.2(LIG4):c.1345A>C (p.Lys449Gln) rs758694012 0.00001
NM_206937.2(LIG4):c.1353A>G (p.Lys451=) rs750628490 0.00001
NM_206937.2(LIG4):c.1382A>G (p.Glu461Gly) rs2232640 0.00001
NM_206937.2(LIG4):c.1502A>G (p.His501Arg) rs370368065 0.00001
NM_206937.2(LIG4):c.1509C>G (p.Leu503=) rs1878402671 0.00001
NM_206937.2(LIG4):c.1514G>A (p.Arg505His) rs138366433 0.00001
NM_206937.2(LIG4):c.1532C>G (p.Thr511Ser) rs377661143 0.00001
NM_206937.2(LIG4):c.1538A>G (p.Lys513Arg) rs538857114 0.00001
NM_206937.2(LIG4):c.1564T>C (p.Leu522=) rs752670480 0.00001
NM_206937.2(LIG4):c.1617A>T (p.Leu539Phe) rs3742212 0.00001
NM_206937.2(LIG4):c.1636G>A (p.Glu546Lys) rs1304694234 0.00001
NM_206937.2(LIG4):c.1641A>C (p.Val547=) rs771151401 0.00001
NM_206937.2(LIG4):c.1686A>G (p.Ala562=) rs758102049 0.00001
NM_206937.2(LIG4):c.1696C>T (p.Pro566Ser) rs151324221 0.00001
NM_206937.2(LIG4):c.1710T>C (p.Tyr570=) rs763222026 0.00001
NM_206937.2(LIG4):c.1720T>C (p.Cys574Arg) rs201308256 0.00001
NM_206937.2(LIG4):c.1730G>A (p.Arg577His) rs748301113 0.00001
NM_206937.2(LIG4):c.1738C>T (p.Arg580Ter) rs104894418 0.00001
NM_206937.2(LIG4):c.1759G>A (p.Asp587Asn) rs377478239 0.00001
NM_206937.2(LIG4):c.1807A>T (p.Arg603Trp) rs762041406 0.00001
NM_206937.2(LIG4):c.1849A>G (p.Ile617Val) rs1161384624 0.00001
NM_206937.2(LIG4):c.1876A>G (p.Lys626Glu) rs777285350 0.00001
NM_206937.2(LIG4):c.1883G>A (p.Arg628Gln) rs369138956 0.00001
NM_206937.2(LIG4):c.1884G>T (p.Arg628=) rs199635003 0.00001
NM_206937.2(LIG4):c.1918A>G (p.Ile640Val) rs1404206174 0.00001
NM_206937.2(LIG4):c.1922T>C (p.Ile641Thr) rs1165437263 0.00001
NM_206937.2(LIG4):c.1942A>C (p.Asn648His) rs1271457786 0.00001
NM_206937.2(LIG4):c.1953C>T (p.Asn651=) rs780588115 0.00001
NM_206937.2(LIG4):c.2035G>C (p.Glu679Gln) rs957569908 0.00001
NM_206937.2(LIG4):c.2050G>A (p.Glu684Lys) rs768218603 0.00001
NM_206937.2(LIG4):c.2197A>G (p.Lys733Glu) rs762817407 0.00001
NM_206937.2(LIG4):c.2202C>T (p.Ser734=) rs369333400 0.00001
NM_206937.2(LIG4):c.2210C>T (p.Pro737Leu) rs745416356 0.00001
NM_206937.2(LIG4):c.2273A>G (p.Tyr758Cys) rs778190953 0.00001
NM_206937.2(LIG4):c.2289T>C (p.Asp763=) rs1371479521 0.00001
NM_206937.2(LIG4):c.2299A>G (p.Ile767Val) rs758471169 0.00001
NM_206937.2(LIG4):c.2320C>G (p.Leu774Val) rs760371875 0.00001
NM_206937.2(LIG4):c.2404C>T (p.Arg802Trp) rs545309994 0.00001
NM_206937.2(LIG4):c.2405G>A (p.Arg802Gln) rs772551854 0.00001
NM_206937.2(LIG4):c.2451C>T (p.Thr817=) rs757299963 0.00001
NM_206937.2(LIG4):c.2537G>A (p.Arg846Gln) rs974517230 0.00001
NM_206937.2(LIG4):c.2611C>T (p.Arg871Cys) rs1423437711 0.00001
NM_206937.2(LIG4):c.2643T>C (p.Thr881=) rs749470898 0.00001
NM_206937.2(LIG4):c.2659A>G (p.Lys887Glu) rs780983005 0.00001
NM_206937.2(LIG4):c.321C>T (p.Leu107=) rs751434618 0.00001
NM_206937.2(LIG4):c.32C>G (p.Ala11Gly) rs778524098 0.00001
NM_206937.2(LIG4):c.394G>T (p.Val132Leu) rs370586288 0.00001
NM_206937.2(LIG4):c.39C>T (p.His13=) rs1238224483 0.00001
NM_206937.2(LIG4):c.411T>C (p.Cys137=) rs915732200 0.00001
NM_206937.2(LIG4):c.447C>T (p.Asn149=) rs766338799 0.00001
NM_206937.2(LIG4):c.474T>C (p.Asn158=) rs1252395998 0.00001
NM_206937.2(LIG4):c.493G>A (p.Asp165Asn) rs1187318427 0.00001
NM_206937.2(LIG4):c.507G>A (p.Lys169=) rs1265921681 0.00001
NM_206937.2(LIG4):c.524T>C (p.Ile175Thr) rs373262036 0.00001
NM_206937.2(LIG4):c.527C>T (p.Thr176Ile) rs1420503689 0.00001
NM_206937.2(LIG4):c.560T>C (p.Ile187Thr) rs199854013 0.00001
NM_206937.2(LIG4):c.675T>C (p.Cys225=) rs954157595 0.00001
NM_206937.2(LIG4):c.713T>C (p.Ile238Thr) rs201289944 0.00001
NM_206937.2(LIG4):c.718A>G (p.Ile240Val) rs747189258 0.00001
NM_206937.2(LIG4):c.789G>C (p.Met263Ile) rs1295268527 0.00001
NM_206937.2(LIG4):c.832C>T (p.Arg278Cys) rs574912936 0.00001
NM_206937.2(LIG4):c.833G>A (p.Arg278His) rs104894421 0.00001
NM_206937.2(LIG4):c.845A>T (p.His282Leu) rs777008519 0.00001
NM_206937.2(LIG4):c.854G>T (p.Gly285Val) rs764372392 0.00001
NM_206937.2(LIG4):c.864T>C (p.Tyr288=) rs797045681 0.00001
NM_206937.2(LIG4):c.879A>G (p.Arg293=) rs1332467911 0.00001
NM_206937.2(LIG4):c.919A>G (p.Thr307Ala) rs373471897 0.00001
NM_206937.2(LIG4):c.94C>T (p.Arg32Cys) rs770549827 0.00001
NM_206937.2(LIG4):c.97G>A (p.Ala33Thr) rs769286329 0.00001
NC_000013.10:g.(?_108857585)_(108860894_?)del
NC_000013.10:g.(?_108860861)_(108863636_?)dup
NC_000013.10:g.(?_108860881)_(108863616_?)del
NC_000013.10:g.(?_108860881)_(108863616_?)dup
NC_000013.11:g.(?_108208513)_(108211288_?)del
NM_206937.2(LIG4):c.*26C>G rs773391515
NM_206937.2(LIG4):c.*26del rs886049948
NM_206937.2(LIG4):c.*599_*602del rs3093770
NM_206937.2(LIG4):c.*620AATTG[1] rs544474901
NM_206937.2(LIG4):c.*857T>C rs536555099
NM_206937.2(LIG4):c.*906T>A rs886049943
NM_206937.2(LIG4):c.1004A>G (p.Tyr335Cys)
NM_206937.2(LIG4):c.1005T>C (p.Tyr335=)
NM_206937.2(LIG4):c.1017A>C (p.Thr339=) rs1191214623
NM_206937.2(LIG4):c.1017A>G (p.Thr339=)
NM_206937.2(LIG4):c.1023T>C (p.Thr341=) rs1594462038
NM_206937.2(LIG4):c.1026del (p.Phe342fs)
NM_206937.2(LIG4):c.1032A>G (p.Gln344=)
NM_206937.2(LIG4):c.1037_1044del (p.Gly346fs)
NM_206937.2(LIG4):c.1059A>G (p.Arg353=)
NM_206937.2(LIG4):c.106dup (p.Ile36fs)
NM_206937.2(LIG4):c.1089T>C (p.Cys363=) rs1566365257
NM_206937.2(LIG4):c.1092T>C (p.Tyr364=)
NM_206937.2(LIG4):c.1095T>C (p.Cys365=)
NM_206937.2(LIG4):c.1103A>T (p.Asp368Val) rs1220876973
NM_206937.2(LIG4):c.1107A>T (p.Val369=)
NM_206937.2(LIG4):c.1108T>C (p.Leu370=)
NM_206937.2(LIG4):c.1113G>T (p.Met371Ile)
NM_206937.2(LIG4):c.1122T>C (p.Asn374=)
NM_206937.2(LIG4):c.1128G>A (p.Lys376=)
NM_206937.2(LIG4):c.1134G>A (p.Gly378=)
NM_206937.2(LIG4):c.1144_1145del (p.Leu382fs) rs1246940345
NM_206937.2(LIG4):c.1146G>A (p.Leu382=) rs1878467886
NM_206937.2(LIG4):c.1150_1153del (p.Lys384fs)
NM_206937.2(LIG4):c.1153A>C (p.Arg385=)
NM_206937.2(LIG4):c.1155G>C (p.Arg385Ser) rs2138975581
NM_206937.2(LIG4):c.1166T>G (p.Leu389Arg)
NM_206937.2(LIG4):c.1169GTA[1] (p.Ser391del)
NM_206937.2(LIG4):c.116T>G (p.Phe39Cys)
NM_206937.2(LIG4):c.117C>A (p.Phe39Leu) rs1414587110
NM_206937.2(LIG4):c.1191A>G (p.Pro397=)
NM_206937.2(LIG4):c.1192G>C (p.Gly398Arg)
NM_206937.2(LIG4):c.1193G>T (p.Gly398Val) rs538646268
NM_206937.2(LIG4):c.1198A>C (p.Ile400Leu) rs886049949
NM_206937.2(LIG4):c.1199T>C (p.Ile400Thr) rs1878459563
NM_206937.2(LIG4):c.1209G>A (p.Val403=)
NM_206937.2(LIG4):c.1209G>T (p.Val403=)
NM_206937.2(LIG4):c.1210del (p.Gln404fs)
NM_206937.2(LIG4):c.1215A>G (p.Lys405=)
NM_206937.2(LIG4):c.1218A>G (p.Thr406=)
NM_206937.2(LIG4):c.1223C>T (p.Ala408Val)
NM_206937.2(LIG4):c.1224T>C (p.Ala408=)
NM_206937.2(LIG4):c.1235A>C (p.Asn412Thr)
NM_206937.2(LIG4):c.1235A>G (p.Asn412Ser) rs781425152
NM_206937.2(LIG4):c.1243_1244del (p.Val414_Ile415insTer)
NM_206937.2(LIG4):c.1245T>A (p.Ile415=)
NM_206937.2(LIG4):c.1245T>C (p.Ile415=)
NM_206937.2(LIG4):c.1246G>C (p.Asp416His)
NM_206937.2(LIG4):c.1246_1250dup (p.Leu418fs) rs2138974907
NM_206937.2(LIG4):c.1247A>G (p.Asp416Gly) rs200912533
NM_206937.2(LIG4):c.1250C>G (p.Ala417Gly) rs2138974891
NM_206937.2(LIG4):c.1250C>T (p.Ala417Val) rs2138974891
NM_206937.2(LIG4):c.1260A>G (p.Glu420=)
NM_206937.2(LIG4):c.1263A>G (p.Ala421=) rs1594460576
NM_206937.2(LIG4):c.1265T>C (p.Ile422Thr)
NM_206937.2(LIG4):c.1269T>C (p.Asp423=)
NM_206937.2(LIG4):c.1270_1273del (p.Lys424fs)
NM_206937.2(LIG4):c.1271_1275del (p.Lys424fs) rs772226399
NM_206937.2(LIG4):c.1282G>C (p.Gly428Arg) rs2138974645
NM_206937.2(LIG4):c.1289T>C (p.Met430Thr)
NM_206937.2(LIG4):c.1289dup (p.Met430fs)
NM_206937.2(LIG4):c.1293A>G (p.Val431=)
NM_206937.2(LIG4):c.1295AAC[1] (p.Gln433del) rs587776663
NM_206937.2(LIG4):c.1300C>T (p.Pro434Ser)
NM_206937.2(LIG4):c.1303C>T (p.Leu435=)
NM_206937.2(LIG4):c.1305A>G (p.Leu435=)
NM_206937.2(LIG4):c.1309A>C (p.Ile437Leu)
NM_206937.2(LIG4):c.1311C>A (p.Ile437=)
NM_206937.2(LIG4):c.1314C>T (p.Tyr438=)
NM_206937.2(LIG4):c.1317G>A (p.Lys439=)
NM_206937.2(LIG4):c.1320A>G (p.Pro440=)
NM_206937.2(LIG4):c.1321G>A (p.Asp441Asn)
NM_206937.2(LIG4):c.1326A>G (p.Lys442=)
NM_206937.2(LIG4):c.1329A>G (p.Arg443=) rs1421197602
NM_206937.2(LIG4):c.1347A>G (p.Lys449=)
NM_206937.2(LIG4):c.1359G>A (p.Glu453=)
NM_206937.2(LIG4):c.1367G>A (p.Ser456Asn)
NM_206937.2(LIG4):c.1368T>C (p.Ser456=)
NM_206937.2(LIG4):c.1380T>A (p.Asp460Glu)
NM_206937.2(LIG4):c.1383del (p.Glu461fs)
NM_206937.2(LIG4):c.1384T>C (p.Leu462=)
NM_206937.2(LIG4):c.1392T>A (p.Ile464=)
NM_206937.2(LIG4):c.1396A>G (p.Ile466Val) rs770386631
NM_206937.2(LIG4):c.1406G>A (p.Gly469Glu) rs104894420
NM_206937.2(LIG4):c.1422A>G (p.Gly474=)
NM_206937.2(LIG4):c.1426C>T (p.Arg476Trp) rs747450004
NM_206937.2(LIG4):c.1430del (p.Gly477fs)
NM_206937.2(LIG4):c.1435A>C (p.Met479Leu) rs2138973656
NM_206937.2(LIG4):c.1440G>A (p.Met480Ile) rs1878414694
NM_206937.2(LIG4):c.1458A>C (p.Ala486=)
NM_206937.2(LIG4):c.1475del (p.Pro492fs) rs767195999
NM_206937.2(LIG4):c.1479T>G (p.Pro493=) rs2138973409
NM_206937.2(LIG4):c.1481G>T (p.Gly494Val)
NM_206937.2(LIG4):c.1482T>C (p.Gly494=)
NM_206937.2(LIG4):c.1487A>G (p.Lys496Arg)
NM_206937.2(LIG4):c.1491A>C (p.Pro497=)
NM_206937.2(LIG4):c.1495G>A (p.Val499Met) rs767349135
NM_206937.2(LIG4):c.149A>G (p.His50Arg)
NM_206937.2(LIG4):c.1503T>C (p.His501=)
NM_206937.2(LIG4):c.1507C>G (p.Leu503Val) rs747572491
NM_206937.2(LIG4):c.150T>C (p.His50=)
NM_206937.2(LIG4):c.1512_1513del (p.Arg505fs) rs759838407
NM_206937.2(LIG4):c.1512_1513dup (p.Arg505fs) rs759838407
NM_206937.2(LIG4):c.1515T>G (p.Arg505=)
NM_206937.2(LIG4):c.1519G>C (p.Gly507Arg)
NM_206937.2(LIG4):c.1536G>A (p.Met512Ile) rs2138972988
NM_206937.2(LIG4):c.1536_1537delinsTT (p.Met512_Lys513delinsIleTer)
NM_206937.2(LIG4):c.1542A>C (p.Glu514Asp) rs2138972951
NM_206937.2(LIG4):c.1545G>A (p.Leu515=) rs2138972922
NM_206937.2(LIG4):c.1545G>C (p.Leu515=)
NM_206937.2(LIG4):c.1561A>T (p.Lys521Ter)
NM_206937.2(LIG4):c.1568C>G (p.Ala523Gly) rs781102255
NM_206937.2(LIG4):c.1569C>G (p.Ala523=)
NM_206937.2(LIG4):c.1575T>C (p.Tyr525=)
NM_206937.2(LIG4):c.1578G>A (p.Trp526Ter)
NM_206937.2(LIG4):c.1583del (p.Pro528fs)
NM_206937.2(LIG4):c.1589A>G (p.His530Arg)
NM_206937.2(LIG4):c.1598C>G (p.Ala533Gly)
NM_206937.2(LIG4):c.15A>T (p.Gln5His) rs1878635695
NM_206937.2(LIG4):c.1605A>G (p.Pro535=)
NM_206937.2(LIG4):c.1611C>T (p.Ser537=)
NM_206937.2(LIG4):c.1621G>T (p.Gly541Ter)
NM_206937.2(LIG4):c.1623A>G (p.Gly541=)
NM_206937.2(LIG4):c.1625C>T (p.Thr542Ile)
NM_206937.2(LIG4):c.1636G>T (p.Glu546Ter)
NM_206937.2(LIG4):c.1642_1643del (p.Tyr548fs) rs1594458526
NM_206937.2(LIG4):c.1643A>G (p.Tyr548Cys)
NM_206937.2(LIG4):c.1653T>C (p.Pro551=)
NM_206937.2(LIG4):c.1656T>C (p.Cys552=) rs543175901
NM_206937.2(LIG4):c.1665C>G (p.Val555=)
NM_206937.2(LIG4):c.1665C>T (p.Val555=)
NM_206937.2(LIG4):c.1671T>A (p.Val557=)
NM_206937.2(LIG4):c.1689G>A (p.Glu563=)
NM_206937.2(LIG4):c.1693G>A (p.Val565Ile)
NM_206937.2(LIG4):c.1697C>A (p.Pro566His) rs1481289157
NM_206937.2(LIG4):c.1697C>T (p.Pro566Leu)
NM_206937.2(LIG4):c.1701T>C (p.Ser567=)
NM_206937.2(LIG4):c.1703A>G (p.Asp568Gly) rs202041497
NM_206937.2(LIG4):c.1704_1705delinsCG (p.Met569Val) rs1878367870
NM_206937.2(LIG4):c.1708T>C (p.Tyr570His) rs2138971865
NM_206937.2(LIG4):c.1720_1721delinsCT (p.Cys574Leu) rs1594458075
NM_206937.2(LIG4):c.172A>G (p.Lys58Glu) rs1594465897
NM_206937.2(LIG4):c.1735C>T (p.Pro579Ser)
NM_206937.2(LIG4):c.1746_1750del (p.Glu582fs) rs759829934
NM_206937.2(LIG4):c.1748del (p.Lys583fs)
NM_206937.2(LIG4):c.174A>G (p.Lys58=) rs1192620115
NM_206937.2(LIG4):c.1751_1755del (p.Ile584fs) rs770128720
NM_206937.2(LIG4):c.1754G>T (p.Arg585Ile) rs1878357858
NM_206937.2(LIG4):c.1755A>G (p.Arg585=)
NM_206937.2(LIG4):c.1756G>T (p.Asp586Tyr) rs753492255
NM_206937.2(LIG4):c.1758T>A (p.Asp586Glu) rs1878354937
NM_206937.2(LIG4):c.1762_1764del (p.Lys588del)
NM_206937.2(LIG4):c.1767G>A (p.Glu589=)
NM_206937.2(LIG4):c.1780A>C (p.Met594Leu) rs1878351126
NM_206937.2(LIG4):c.1797A>G (p.Leu599=)
NM_206937.2(LIG4):c.1798G>T (p.Glu600Ter)
NM_206937.2(LIG4):c.1800A>G (p.Glu600=)
NM_206937.2(LIG4):c.1809G>A (p.Arg603=)
NM_206937.2(LIG4):c.1828C>A (p.Leu610Ile)
NM_206937.2(LIG4):c.1835C>G (p.Ser612Cys)
NM_206937.2(LIG4):c.1836T>C (p.Ser612=)
NM_206937.2(LIG4):c.1839A>C (p.Lys613Asn)
NM_206937.2(LIG4):c.1842C>T (p.His614=)
NM_206937.2(LIG4):c.184G>A (p.Asp62Asn)
NM_206937.2(LIG4):c.1857T>G (p.Gly619=)
NM_206937.2(LIG4):c.1868C>G (p.Pro623Arg) rs1412566515
NM_206937.2(LIG4):c.1869A>G (p.Pro623=)
NM_206937.2(LIG4):c.1870C>T (p.Gln624Ter)
NM_206937.2(LIG4):c.1878_1880del (p.Lys627del)
NM_206937.2(LIG4):c.1880dup (p.Arg628fs)
NM_206937.2(LIG4):c.1884G>A (p.Arg628=)
NM_206937.2(LIG4):c.1888G>C (p.Ala630Pro) rs1262844792
NM_206937.2(LIG4):c.188_189del (p.Ser63fs)
NM_206937.2(LIG4):c.1891G>T (p.Ala631Ser)
NM_206937.2(LIG4):c.1893C>T (p.Ala631=) rs267603748
NM_206937.2(LIG4):c.189T>C (p.Ser63=)
NM_206937.2(LIG4):c.1904del (p.Lys635fs) rs375554612
NM_206937.2(LIG4):c.1911T>C (p.Val637=)
NM_206937.2(LIG4):c.1916G>C (p.Gly639Ala)
NM_206937.2(LIG4):c.1918A>T (p.Ile640Phe) rs1404206174
NM_206937.2(LIG4):c.191T>C (p.Phe64Ser)
NM_206937.2(LIG4):c.1920T>C (p.Ile640=)
NM_206937.2(LIG4):c.1920T>G (p.Ile640Met)
NM_206937.2(LIG4):c.1928del (p.His643fs)
NM_206937.2(LIG4):c.1932A>C (p.Leu644Phe) rs2138970296
NM_206937.2(LIG4):c.1939C>T (p.Pro647Ser) rs1035346047
NM_206937.2(LIG4):c.1940C>T (p.Pro647Leu) rs775265846
NM_206937.2(LIG4):c.195T>C (p.Tyr65=)
NM_206937.2(LIG4):c.1973T>C (p.Ile658Thr)
NM_206937.2(LIG4):c.1973del (p.Ile658fs)
NM_206937.2(LIG4):c.1974A>G (p.Ile658Met)
NM_206937.2(LIG4):c.1982A>C (p.Asp661Ala) rs1391488834
NM_206937.2(LIG4):c.1992T>C (p.Phe664=)
NM_206937.2(LIG4):c.1998T>C (p.Val666=)
NM_206937.2(LIG4):c.2019_2022del (p.Pro674fs)
NM_206937.2(LIG4):c.2028T>C (p.Pro676=)
NM_206937.2(LIG4):c.2031C>T (p.Asp677=)
NM_206937.2(LIG4):c.2032C>G (p.Leu678Val)
NM_206937.2(LIG4):c.2035G>A (p.Glu679Lys) rs957569908
NM_206937.2(LIG4):c.2038A>G (p.Asn680Asp) rs2138969607
NM_206937.2(LIG4):c.2040C>T (p.Asn680=)
NM_206937.2(LIG4):c.2042G>A (p.Arg681Lys)
NM_206937.2(LIG4):c.2046T>G (p.Ile682Met) rs2138969520
NM_206937.2(LIG4):c.2049A>C (p.Ala683=)
NM_206937.2(LIG4):c.204G>A (p.Met68Ile) rs1326374108
NM_206937.2(LIG4):c.2059G>A (p.Gly687Ser)
NM_206937.2(LIG4):c.2067A>T (p.Ile689=)
NM_206937.2(LIG4):c.2070A>G (p.Val690=)
NM_206937.2(LIG4):c.208C>G (p.Leu70Val) rs193107403
NM_206937.2(LIG4):c.2091G>A (p.Thr697=)
NM_206937.2(LIG4):c.2094C>G (p.Tyr698Ter) rs373938258
NM_206937.2(LIG4):c.209T>C (p.Leu70Pro) rs2138980832
NM_206937.2(LIG4):c.2105C>G (p.Ala702Gly)
NM_206937.2(LIG4):c.2110T>C (p.Ser704Pro)
NM_206937.2(LIG4):c.2111C>G (p.Ser704Cys)
NM_206937.2(LIG4):c.2118C>T (p.Asn706=)
NM_206937.2(LIG4):c.2135_2136del (p.Ile712fs) rs1566360837
NM_206937.2(LIG4):c.2139T>G (p.Ile713Met) rs1878277031
NM_206937.2(LIG4):c.2143T>A (p.Ser715Thr)
NM_206937.2(LIG4):c.214C>A (p.Leu72Ile)
NM_206937.2(LIG4):c.2157T>C (p.Asp719=) rs2138968929
NM_206937.2(LIG4):c.2161G>A (p.Val721Ile)
NM_206937.2(LIG4):c.2163C>G (p.Val721=)
NM_206937.2(LIG4):c.2166G>A (p.Lys722=)
NM_206937.2(LIG4):c.2169T>G (p.Pro723=)
NM_206937.2(LIG4):c.2172A>C (p.Ala724=)
NM_206937.2(LIG4):c.2172A>G (p.Ala724=)
NM_206937.2(LIG4):c.2175del (p.Trp725fs) rs1286797317
NM_206937.2(LIG4):c.2189T>G (p.Phe730Cys)
NM_206937.2(LIG4):c.2190del (p.Phe730fs)
NM_206937.2(LIG4):c.2193G>C (p.Lys731Asn) rs1878269517
NM_206937.2(LIG4):c.2200del (p.Ser734fs)
NM_206937.2(LIG4):c.220C>T (p.Gln74Ter)
NM_206937.2(LIG4):c.2216A>C (p.Gln739Pro)
NM_206937.2(LIG4):c.2224T>C (p.Phe742Leu) rs1878264184
NM_206937.2(LIG4):c.2234A>G (p.His745Arg) rs981096741
NM_206937.2(LIG4):c.2237T>C (p.Met746Thr)
NM_206937.2(LIG4):c.2239T>C (p.Cys747Arg) rs1878262100
NM_206937.2(LIG4):c.2250C>G (p.Thr750=)
NM_206937.2(LIG4):c.2262del (p.Phe754fs)
NM_206937.2(LIG4):c.2266C>A (p.Arg756Ser) rs557203390
NM_206937.2(LIG4):c.2269G>T (p.Glu757Ter)
NM_206937.2(LIG4):c.226G>T (p.Glu76Ter)
NM_206937.2(LIG4):c.2276A>G (p.Asp759Gly)
NM_206937.2(LIG4):c.2283T>C (p.Tyr761=)
NM_206937.2(LIG4):c.2292T>C (p.Ser764=) rs2138968175
NM_206937.2(LIG4):c.2295T>C (p.Tyr765=)
NM_206937.2(LIG4):c.22C>T (p.Gln8Ter)
NM_206937.2(LIG4):c.2305dup (p.Thr769fs) rs1878251067
NM_206937.2(LIG4):c.2316C>T (p.Asn772=) rs957413601
NM_206937.2(LIG4):c.2316_2332del (p.Gln773fs)
NM_206937.2(LIG4):c.2317C>A (p.Gln773Lys) rs1386691031
NM_206937.2(LIG4):c.2317C>T (p.Gln773Ter)
NM_206937.2(LIG4):c.2319A>G (p.Gln773=) rs1594454898
NM_206937.2(LIG4):c.2320C>T (p.Leu774=)
NM_206937.2(LIG4):c.2321T>C (p.Leu774Pro) rs1060499662
NM_206937.2(LIG4):c.2326del (p.Glu776fs)
NM_206937.2(LIG4):c.2334C>T (p.Phe778=)
NM_206937.2(LIG4):c.2340A>C (p.Gly780=)
NM_206937.2(LIG4):c.2356G>A (p.Glu786Lys) rs200756045
NM_206937.2(LIG4):c.2359C>T (p.Gln787Ter)
NM_206937.2(LIG4):c.237A>G (p.Arg79=)
NM_206937.2(LIG4):c.2387T>G (p.Ile796Ser) rs903162818
NM_206937.2(LIG4):c.2388T>C (p.Ile796=)
NM_206937.2(LIG4):c.2388T>G (p.Ile796Met) rs1878236738
NM_206937.2(LIG4):c.2401_2410del (p.Tyr801fs) rs2138967445
NM_206937.2(LIG4):c.2409T>C (p.Tyr803=)
NM_206937.2(LIG4):c.2412C>T (p.Ser804=)
NM_206937.2(LIG4):c.2424T>G (p.Ser808=)
NM_206937.2(LIG4):c.2426C>T (p.Pro809Leu)
NM_206937.2(LIG4):c.2426_2430del (p.Pro809fs)
NM_206937.2(LIG4):c.2427T>A (p.Pro809=)
NM_206937.2(LIG4):c.2427dup (p.Leu810fs)
NM_206937.2(LIG4):c.2430C>T (p.Leu810=)
NM_206937.2(LIG4):c.243C>G (p.Ala81=)
NM_206937.2(LIG4):c.243C>T (p.Ala81=)
NM_206937.2(LIG4):c.2440C>A (p.Arg814=)
NM_206937.2(LIG4):c.2441G>T (p.Arg814Leu)
NM_206937.2(LIG4):c.2444G>A (p.Arg815His)
NM_206937.2(LIG4):c.2444G>T (p.Arg815Leu) rs574090677
NM_206937.2(LIG4):c.2449A>G (p.Thr817Ala)
NM_206937.2(LIG4):c.2460G>C (p.Leu820Phe)
NM_206937.2(LIG4):c.2462A>G (p.Asp821Gly)
NM_206937.2(LIG4):c.2465C>G (p.Ser822Trp)
NM_206937.2(LIG4):c.2466G>A (p.Ser822=) rs752539259
NM_206937.2(LIG4):c.2466G>T (p.Ser822=)
NM_206937.2(LIG4):c.2468A>G (p.Tyr823Cys) rs751149500
NM_206937.2(LIG4):c.246T>C (p.Tyr82=)
NM_206937.2(LIG4):c.2470G>T (p.Ala824Ser)
NM_206937.2(LIG4):c.2480A>G (p.Asn827Ser) rs1878212620
NM_206937.2(LIG4):c.2482G>A (p.Asp828Asn)
NM_206937.2(LIG4):c.2485C>T (p.Leu829=)
NM_206937.2(LIG4):c.2486T>C (p.Leu829Pro) rs146597721
NM_206937.2(LIG4):c.2486T>G (p.Leu829Arg) rs146597721
NM_206937.2(LIG4):c.2492C>A (p.Thr831Asn) rs199526538
NM_206937.2(LIG4):c.24A>G (p.Gln8=)
NM_206937.2(LIG4):c.2505G>A (p.Gly835=)
NM_206937.2(LIG4):c.2505G>C (p.Gly835=)
NM_206937.2(LIG4):c.250dup (p.Ile84fs)
NM_206937.2(LIG4):c.2517T>C (p.Ala839=)
NM_206937.2(LIG4):c.2519T>C (p.Ile840Thr) rs2138966585
NM_206937.2(LIG4):c.2520T>C (p.Ile840=)
NM_206937.2(LIG4):c.2527T>C (p.Leu843=)
NM_206937.2(LIG4):c.2529G>A (p.Leu843=)
NM_206937.2(LIG4):c.2541T>C (p.Phe847=)
NM_206937.2(LIG4):c.2545G>A (p.Gly849Arg)
NM_206937.2(LIG4):c.2556A>G (p.Val852=)
NM_206937.2(LIG4):c.2580G>A (p.Val860=)
NM_206937.2(LIG4):c.2585_2586del (p.His862fs)
NM_206937.2(LIG4):c.2592A>G (p.Ile864Met) rs2138966110
NM_206937.2(LIG4):c.2592_2595del (p.Ile864fs) rs765317127
NM_206937.2(LIG4):c.2595T>A (p.Ile865=)
NM_206937.2(LIG4):c.2595del (p.Ile865fs) rs757090161
NM_206937.2(LIG4):c.2596G>A (p.Gly866Arg)
NM_206937.2(LIG4):c.2609G>A (p.Ser870Asn)
NM_206937.2(LIG4):c.260C>G (p.Thr87Ser)
NM_206937.2(LIG4):c.2610T>C (p.Ser870=)
NM_206937.2(LIG4):c.2618C>G (p.Ala873Gly) rs1372817258
NM_206937.2(LIG4):c.261T>C (p.Thr87=)
NM_206937.2(LIG4):c.2636GAA[1] (p.Arg880del) rs753650304
NM_206937.2(LIG4):c.2645T>C (p.Phe882Ser)
NM_206937.2(LIG4):c.2645_2646del (p.Thr881_Phe882insTer)
NM_206937.2(LIG4):c.2652A>G (p.Arg884=)
NM_206937.2(LIG4):c.2653_2654dup (p.Phe886fs)
NM_206937.2(LIG4):c.2662A>C (p.Ile888Leu) rs148711190
NM_206937.2(LIG4):c.2662A>T (p.Ile888Phe) rs148711190
NM_206937.2(LIG4):c.2667A>C (p.Leu889=)
NM_206937.2(LIG4):c.2667A>G (p.Leu889=)
NM_206937.2(LIG4):c.2675G>T (p.Ser892Ile) rs1324979016
NM_206937.2(LIG4):c.2676T>C (p.Ser892=)
NM_206937.2(LIG4):c.2690C>A (p.Ser897Ter)
NM_206937.2(LIG4):c.2698A>C (p.Lys900Gln)
NM_206937.2(LIG4):c.2700G>A (p.Lys900=)
NM_206937.2(LIG4):c.2703T>C (p.Cys901=)
NM_206937.2(LIG4):c.2712A>G (p.Gln904=)
NM_206937.2(LIG4):c.2715A>G (p.Glu905=)
NM_206937.2(LIG4):c.2736A>G (p.Ter912=)
NM_206937.2(LIG4):c.279T>C (p.Tyr93=)
NM_206937.2(LIG4):c.27T>G (p.Thr9=)
NM_206937.2(LIG4):c.280A>G (p.Ile94Val)
NM_206937.2(LIG4):c.283G>A (p.Glu95Lys) rs1878597472
NM_206937.2(LIG4):c.286T>C (p.Leu96=)
NM_206937.2(LIG4):c.288G>A (p.Leu96=)
NM_206937.2(LIG4):c.288G>C (p.Leu96Phe)
NM_206937.2(LIG4):c.308G>A (p.Gly103Glu) rs2138980358
NM_206937.2(LIG4):c.321C>G (p.Leu107=)
NM_206937.2(LIG4):c.33A>G (p.Ala11=) rs748718655
NM_206937.2(LIG4):c.33A>T (p.Ala11=)
NM_206937.2(LIG4):c.34T>G (p.Ser12Ala) rs554949695
NM_206937.2(LIG4):c.353C>G (p.Thr118Ser) rs2138980126
NM_206937.2(LIG4):c.360A>G (p.Gly120=)
NM_206937.2(LIG4):c.374_375del (p.Phe125fs)
NM_206937.2(LIG4):c.387A>C (p.Ala129=)
NM_206937.2(LIG4):c.399G>A (p.Leu133=)
NM_206937.2(LIG4):c.408A>G (p.Arg136=) rs2138979857
NM_206937.2(LIG4):c.438G>A (p.Gln146=)
NM_206937.2(LIG4):c.439del (p.Gln147fs)
NM_206937.2(LIG4):c.450C>T (p.Asp150=) rs2138979718
NM_206937.2(LIG4):c.459C>T (p.Asp153=)
NM_206937.2(LIG4):c.467C>T (p.Ala156Val) rs1878574599
NM_206937.2(LIG4):c.480T>A (p.Ser160=)
NM_206937.2(LIG4):c.482C>G (p.Ala161Gly) rs530696588
NM_206937.2(LIG4):c.482del (p.Ala161fs)
NM_206937.2(LIG4):c.483T>G (p.Ala161=)
NM_206937.2(LIG4):c.489A>C (p.Arg163Ser)
NM_206937.2(LIG4):c.498A>G (p.Leu166=)
NM_206937.2(LIG4):c.506A>T (p.Lys169Met)
NM_206937.2(LIG4):c.510C>T (p.Ser170=)
NM_206937.2(LIG4):c.519A>G (p.Gln173=)
NM_206937.2(LIG4):c.529C>G (p.Gln177Glu) rs771448034
NM_206937.2(LIG4):c.533G>A (p.Ser178Asn) rs1878561624
NM_206937.2(LIG4):c.536C>G (p.Ser179Ter)
NM_206937.2(LIG4):c.538G>A (p.Ala180Thr)
NM_206937.2(LIG4):c.53A>T (p.Asp18Val)
NM_206937.2(LIG4):c.56T>G (p.Leu19Trp)
NM_206937.2(LIG4):c.575del (p.Lys192fs)
NM_206937.2(LIG4):c.57G>C (p.Leu19Phe) rs762030781
NM_206937.2(LIG4):c.580T>C (p.Leu194=)
NM_206937.2(LIG4):c.585G>A (p.Lys195=)
NM_206937.2(LIG4):c.590G>C (p.Gly197Ala) rs779944478
NM_206937.2(LIG4):c.590G>T (p.Gly197Val)
NM_206937.2(LIG4):c.597_600del (p.Gln200fs) rs752339466
NM_206937.2(LIG4):c.603A>G (p.Gln201=)
NM_206937.2(LIG4):c.612T>C (p.Phe204=)
NM_206937.2(LIG4):c.613del (p.Ser205fs) rs780879476
NM_206937.2(LIG4):c.615T>C (p.Ser205=)
NM_206937.2(LIG4):c.643C>T (p.His215Tyr) rs1327104442
NM_206937.2(LIG4):c.646_648del (p.Asn216del)
NM_206937.2(LIG4):c.654T>A (p.Thr218=)
NM_206937.2(LIG4):c.65C>T (p.Thr22Ile)
NM_206937.2(LIG4):c.663G>A (p.Leu221=)
NM_206937.2(LIG4):c.666A>C (p.Glu222Asp)
NM_206937.2(LIG4):c.666A>G (p.Glu222=)
NM_206937.2(LIG4):c.672C>T (p.Val224=)
NM_206937.2(LIG4):c.678G>A (p.Arg226=)
NM_206937.2(LIG4):c.678del (p.Arg226fs)
NM_206937.2(LIG4):c.684G>A (p.Leu228=)
NM_206937.2(LIG4):c.689A>T (p.Asp230Val) rs1388798970
NM_206937.2(LIG4):c.68T>C (p.Leu23Ser)
NM_206937.2(LIG4):c.708T>C (p.Ser236=)
NM_206937.2(LIG4):c.711T>C (p.Asp237=)
NM_206937.2(LIG4):c.712A>C (p.Ile238Leu)
NM_206937.2(LIG4):c.714T>C (p.Ile238=)
NM_206937.2(LIG4):c.717T>C (p.Ser239=)
NM_206937.2(LIG4):c.720C>T (p.Ile240=) rs1418033761
NM_206937.2(LIG4):c.724_725del (p.Leu242fs) rs2138978299
NM_206937.2(LIG4):c.726A>G (p.Leu242=)
NM_206937.2(LIG4):c.735A>C (p.Ala245=) rs2138978216
NM_206937.2(LIG4):c.735A>G (p.Ala245=) rs2138978216
NM_206937.2(LIG4):c.741A>G (p.Lys247=)
NM_206937.2(LIG4):c.743C>T (p.Pro248Leu) rs2138978193
NM_206937.2(LIG4):c.748C>T (p.Leu250=)
NM_206937.2(LIG4):c.74G>A (p.Arg25Gln)
NM_206937.2(LIG4):c.753T>G (p.Ala251=) rs2138978156
NM_206937.2(LIG4):c.755C>G (p.Ala252Gly) rs1368317630
NM_206937.2(LIG4):c.757A>G (p.Ile253Val)
NM_206937.2(LIG4):c.757_758del (p.Ile253fs)
NM_206937.2(LIG4):c.764A>G (p.Asp255Gly) rs2138978086
NM_206937.2(LIG4):c.767_768inv (p.Ile256Lys)
NM_206937.2(LIG4):c.771G>A (p.Glu257=)
NM_206937.2(LIG4):c.773A>G (p.His258Arg)
NM_206937.2(LIG4):c.788T>C (p.Met263Thr)
NM_206937.2(LIG4):c.795_796delinsAA (p.His265_Gln266delinsGlnLys)
NM_206937.2(LIG4):c.799_800del (p.Ser267fs) rs1566366148
NM_206937.2(LIG4):c.800G>A (p.Ser267Asn) rs1878526562
NM_206937.2(LIG4):c.804C>T (p.Phe268=) rs2138977802
NM_206937.2(LIG4):c.806del (p.Tyr269fs)
NM_206937.2(LIG4):c.807del (p.Phe268_Tyr269insTer)
NM_206937.2(LIG4):c.814A>T (p.Thr272Ser) rs2138977743
NM_206937.2(LIG4):c.819G>A (p.Lys273=)
NM_206937.2(LIG4):c.832C>A (p.Arg278Ser)
NM_206937.2(LIG4):c.832C>G (p.Arg278Gly) rs574912936
NM_206937.2(LIG4):c.833G>C (p.Arg278Pro)
NM_206937.2(LIG4):c.833G>T (p.Arg278Leu)
NM_206937.2(LIG4):c.836T>G (p.Met279Arg) rs1878520639
NM_206937.2(LIG4):c.839A>C (p.Gln280Pro)
NM_206937.2(LIG4):c.839A>G (p.Gln280Arg)
NM_206937.2(LIG4):c.840A>G (p.Gln280=)
NM_206937.2(LIG4):c.842T>C (p.Met281Thr) rs1399378139
NM_206937.2(LIG4):c.845A>G (p.His282Arg)
NM_206937.2(LIG4):c.847A>G (p.Lys283Glu) rs1594462950
NM_206937.2(LIG4):c.856G>A (p.Asp286Asn) rs1878516885
NM_206937.2(LIG4):c.861A>G (p.Val287=)
NM_206937.2(LIG4):c.862T>C (p.Tyr288His) rs1878515448
NM_206937.2(LIG4):c.877C>A (p.Arg293=) rs948441067
NM_206937.2(LIG4):c.877C>T (p.Arg293Ter)
NM_206937.2(LIG4):c.879_883del (p.Asn294fs) rs751070095
NM_206937.2(LIG4):c.883G>A (p.Gly295Arg)
NM_206937.2(LIG4):c.884G>A (p.Gly295Glu)
NM_206937.2(LIG4):c.885A>G (p.Gly295=)
NM_206937.2(LIG4):c.889A>G (p.Asn297Asp)
NM_206937.2(LIG4):c.891C>T (p.Asn297=)
NM_206937.2(LIG4):c.892T>C (p.Tyr298His) rs1878508514
NM_206937.2(LIG4):c.894C>T (p.Tyr298=)
NM_206937.2(LIG4):c.895A>G (p.Thr299Ala)
NM_206937.2(LIG4):c.897T>G (p.Thr299=) rs2138977040
NM_206937.2(LIG4):c.906T>C (p.Phe302=)
NM_206937.2(LIG4):c.906del (p.Phe302fs)
NM_206937.2(LIG4):c.911C>T (p.Ala304Val) rs749198307
NM_206937.2(LIG4):c.916C>T (p.Pro306Ser) rs1378327726
NM_206937.2(LIG4):c.936C>T (p.Thr312=)
NM_206937.2(LIG4):c.938C>T (p.Pro313Leu) rs2138976768
NM_206937.2(LIG4):c.939A>G (p.Pro313=)
NM_206937.2(LIG4):c.93A>G (p.Gly31=)
NM_206937.2(LIG4):c.949A>G (p.Asn317Asp) rs1566365677
NM_206937.2(LIG4):c.95G>A (p.Arg32His) rs777181224
NM_206937.2(LIG4):c.95G>T (p.Arg32Leu) rs777181224
NM_206937.2(LIG4):c.964G>A (p.Asp322Asn) rs1796952947
NM_206937.2(LIG4):c.982_984del (p.Leu328del)
NM_206937.2(LIG4):c.989G>T (p.Gly330Val) rs1410858176

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