ClinVar Miner

List of variants in gene TONSL studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1039
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HGVS dbSNP gnomAD frequency
NM_013432.5(TONSL):c.865+15G>C rs2242264 0.97931
NM_013432.5(TONSL):c.1291-44T>C rs2620650 0.95621
NM_013432.5(TONSL):c.1368A>G (p.Leu456=) rs2306383 0.95365
NM_013432.5(TONSL):c.1290+35G>A rs2721188 0.63254
NM_013432.5(TONSL):c.2852+24C>T rs1010427 0.54997
NM_013432.5(TONSL):c.1477G>A (p.Gly493Ser) rs2229315 0.54319
NM_013432.5(TONSL):c.1653+40T>C rs13255086 0.53389
NM_013432.5(TONSL):c.578+18C>T rs741969 0.50524
NM_013432.5(TONSL):c.1263C>T (p.Ala421=) rs2229313 0.50185
NM_013432.5(TONSL):c.2496C>T (p.Ala832=) rs2721140 0.44483
NM_013432.5(TONSL):c.2141C>T (p.Ala714Val) rs7830832 0.42019
NM_013432.5(TONSL):c.1462G>A (p.Val488Met) rs2229314 0.02064
NM_013432.5(TONSL):c.3520T>C (p.Phe1174Leu) rs35351970 0.01461
NM_013432.5(TONSL):c.546C>T (p.Asn182=) rs35913924 0.01265
NM_013432.5(TONSL):c.3642C>T (p.Pro1214=) rs34599999 0.01093
NM_013432.5(TONSL):c.1563+18C>T rs116225577 0.01012
NM_013432.5(TONSL):c.3870C>T (p.Ser1290=) rs34999346 0.00776
NM_013432.5(TONSL):c.2269C>G (p.Gln757Glu) rs61732278 0.00628
NM_013432.5(TONSL):c.2363G>A (p.Ser788Asn) rs61735672 0.00440
NM_013432.5(TONSL):c.1767C>T (p.Asp589=) rs147487703 0.00407
NM_013432.5(TONSL):c.2853-12C>T rs149407728 0.00381
NM_013432.5(TONSL):c.3827C>T (p.Pro1276Leu) rs4925856 0.00361
NM_013432.5(TONSL):c.3388-6C>T rs115226683 0.00337
NM_013432.5(TONSL):c.3006+20G>A rs201648442 0.00291
NM_013432.5(TONSL):c.648C>T (p.Gly216=) rs142348672 0.00252
NM_013432.5(TONSL):c.3462C>T (p.His1154=) rs143167517 0.00227
NM_013432.5(TONSL):c.3453C>T (p.Ser1151=) rs148612989 0.00221
NM_013432.5(TONSL):c.969G>A (p.Lys323=) rs141212804 0.00219
NM_013432.5(TONSL):c.885G>A (p.Leu295=) rs147397546 0.00210
NM_013432.5(TONSL):c.726C>T (p.Ser242=) rs112264814 0.00207
NM_013432.5(TONSL):c.3195C>T (p.Ala1065=) rs139227363 0.00201
NM_013432.5(TONSL):c.1458C>T (p.Gly486=) rs139005733 0.00195
NM_013432.5(TONSL):c.2014+14C>T rs114816958 0.00190
NM_013432.5(TONSL):c.2014+15C>G rs185702712 0.00188
NM_013432.5(TONSL):c.2015-19C>T rs144748243 0.00178
NM_013432.5(TONSL):c.2677G>A (p.Ala893Thr) rs148167168 0.00178
NM_013432.5(TONSL):c.1248A>G (p.Lys416=) rs144566958 0.00174
NM_013432.5(TONSL):c.3514A>G (p.Ser1172Gly) rs147517862 0.00163
NM_013432.5(TONSL):c.1578C>T (p.Asn526=) rs150430814 0.00142
NM_013432.5(TONSL):c.1413G>A (p.Ala471=) rs142414219 0.00140
NM_013432.5(TONSL):c.644C>T (p.Ala215Val) rs146520900 0.00123
NM_013432.5(TONSL):c.1950C>G (p.Asp650Glu) rs141505364 0.00121
NM_013432.5(TONSL):c.1191A>G (p.Ala397=) rs142838243 0.00116
NM_013432.5(TONSL):c.1441G>A (p.Glu481Lys) rs146174683 0.00099
NM_013432.5(TONSL):c.3551C>T (p.Ala1184Val) rs372316501 0.00099
NM_013432.5(TONSL):c.1433C>T (p.Ala478Val) rs137885184 0.00094
NM_013432.5(TONSL):c.3513C>T (p.Pro1171=) rs139402752 0.00091
NM_013432.5(TONSL):c.710A>G (p.Lys237Arg) rs145201012 0.00086
NM_013432.5(TONSL):c.1149C>T (p.Ser383=) rs150235596 0.00082
NM_013432.5(TONSL):c.712C>T (p.Arg238Trp) rs149978949 0.00078
NM_013432.5(TONSL):c.2014+19G>T rs182886830 0.00075
NM_013432.5(TONSL):c.3508G>A (p.Gly1170Ser) rs149645318 0.00071
NM_013432.5(TONSL):c.1736G>A (p.Arg579His) rs567826472 0.00069
NM_013432.5(TONSL):c.3809+9C>G rs373594610 0.00066
NM_013432.5(TONSL):c.1135C>T (p.Leu379=) rs140691873 0.00064
NM_013432.5(TONSL):c.2168C>T (p.Ala723Val) rs371647926 0.00063
NM_013432.5(TONSL):c.2076T>C (p.Ser692=) rs150695893 0.00060
NM_013432.5(TONSL):c.1910C>T (p.Thr637Met) rs146192032 0.00057
NM_013432.5(TONSL):c.2278C>T (p.Pro760Ser) rs367667140 0.00044
NM_013432.5(TONSL):c.2595G>A (p.Ser865=) rs199702035 0.00042
NM_013432.5(TONSL):c.1011+13G>A rs200552542 0.00039
NM_013432.5(TONSL):c.3952G>A (p.Val1318Ile) rs189786044 0.00038
NM_013432.5(TONSL):c.3138G>A (p.Ser1046=) rs140867880 0.00037
NM_013432.5(TONSL):c.3563C>T (p.Ala1188Val) rs146566654 0.00036
NM_013432.5(TONSL):c.1631G>A (p.Arg544His) rs141623142 0.00034
NM_013432.5(TONSL):c.3518T>G (p.Phe1173Cys) rs143208435 0.00034
NM_013432.5(TONSL):c.2775+12G>C rs118010835 0.00032
NM_013432.5(TONSL):c.3006+7C>T rs370542468 0.00031
NM_013432.5(TONSL):c.3762C>G (p.Thr1254=) rs371792871 0.00031
NM_013432.5(TONSL):c.2846C>A (p.Pro949Gln) rs182225101 0.00030
NM_013432.5(TONSL):c.3809+5C>T rs370640264 0.00029
NM_013432.5(TONSL):c.1633G>A (p.Val545Ile) rs202000622 0.00028
NM_013432.5(TONSL):c.2775+19A>G rs375270024 0.00028
NM_013432.5(TONSL):c.4047G>T (p.Arg1349Ser) rs561356988 0.00026
NM_013432.5(TONSL):c.3594C>T (p.Tyr1198=) rs148092586 0.00025
NM_013432.5(TONSL):c.1318G>A (p.Val440Met) rs138999030 0.00024
NM_013432.5(TONSL):c.2291C>A (p.Ala764Asp) rs374878445 0.00024
NM_013432.5(TONSL):c.882G>A (p.Arg294=) rs139669876 0.00023
NM_013432.5(TONSL):c.2781G>A (p.Pro927=) rs755724409 0.00022
NM_013432.5(TONSL):c.3086-16C>T rs782465148 0.00022
NM_013432.5(TONSL):c.2247C>T (p.Ser749=) rs140799312 0.00021
NM_013432.5(TONSL):c.2916C>T (p.Cys972=) rs369455058 0.00021
NM_013432.5(TONSL):c.3184C>T (p.Leu1062=) rs367754042 0.00020
NM_013432.5(TONSL):c.3250G>A (p.Asp1084Asn) rs143207385 0.00019
NM_013432.5(TONSL):c.3515G>T (p.Ser1172Ile) rs200834102 0.00019
NM_013432.5(TONSL):c.2451C>A (p.Ala817=) rs200782686 0.00018
NM_013432.5(TONSL):c.2458C>T (p.Pro820Ser) rs539622862 0.00018
NM_013432.5(TONSL):c.3576G>A (p.Lys1192=) rs141867261 0.00018
NM_013432.5(TONSL):c.1236G>A (p.Pro412=) rs139731874 0.00017
NM_013432.5(TONSL):c.1164+7C>T rs377413480 0.00016
NM_013432.5(TONSL):c.2302C>T (p.Arg768Trp) rs747619822 0.00016
NM_013432.5(TONSL):c.2522C>T (p.Pro841Leu) rs201651076 0.00016
NM_013432.5(TONSL):c.3507C>T (p.Phe1169=) rs200308789 0.00016
NM_013432.5(TONSL):c.750+14G>A rs200026282 0.00016
NM_013432.5(TONSL):c.838G>A (p.Ala280Thr) rs566845306 0.00016
NM_013432.5(TONSL):c.1011+3G>A rs368363628 0.00015
NM_013432.5(TONSL):c.2761G>C (p.Ala921Pro) rs200025720 0.00015
NM_013432.5(TONSL):c.1809C>T (p.His603=) rs111393858 0.00014
NM_013432.5(TONSL):c.2546G>A (p.Arg849His) rs767466576 0.00014
NM_013432.5(TONSL):c.3560-8C>T rs375721612 0.00014
NM_013432.5(TONSL):c.3914C>T (p.Pro1305Leu) rs370820880 0.00014
NM_013432.5(TONSL):c.2529C>G (p.Thr843=) rs201661140 0.00013
NM_013432.5(TONSL):c.1199G>A (p.Arg400His) rs200649700 0.00012
NM_013432.5(TONSL):c.2319G>A (p.Thr773=) rs540515318 0.00012
NM_013432.5(TONSL):c.249C>T (p.Tyr83=) rs752496717 0.00012
NM_013432.5(TONSL):c.3086-5C>T rs371409579 0.00012
NM_013432.5(TONSL):c.3597C>T (p.Asn1199=) rs374357745 0.00012
NM_013432.5(TONSL):c.1106A>G (p.His369Arg) rs200081517 0.00011
NM_013432.5(TONSL):c.1291-14C>T rs573710836 0.00011
NM_013432.5(TONSL):c.1735C>T (p.Arg579Cys) rs201525526 0.00011
NM_013432.5(TONSL):c.1759G>A (p.Ala587Thr) rs369062838 0.00011
NM_013432.5(TONSL):c.1833C>T (p.Phe611=) rs371923350 0.00011
NM_013432.5(TONSL):c.2365C>T (p.Arg789Trp) rs751594566 0.00011
NM_013432.5(TONSL):c.2413C>T (p.Arg805Trp) rs373583717 0.00011
NM_013432.5(TONSL):c.3144C>T (p.Ser1048=) rs569596561 0.00011
NM_013432.5(TONSL):c.442C>A (p.Leu148Met) rs760476 0.00011
NM_013432.5(TONSL):c.1866G>A (p.Ala622=) rs112282581 0.00010
NM_013432.5(TONSL):c.1961G>A (p.Arg654Gln) rs201022667 0.00010
NM_013432.5(TONSL):c.3649A>G (p.Thr1217Ala) rs200996902 0.00010
NM_013432.5(TONSL):c.1628G>A (p.Arg543His) rs753535876 0.00009
NM_013432.5(TONSL):c.2257G>A (p.Ala753Thr) rs777329346 0.00009
NM_013432.5(TONSL):c.2775+18G>A rs367916529 0.00009
NM_013432.5(TONSL):c.2891C>T (p.Ala964Val) rs778431357 0.00009
NM_013432.5(TONSL):c.579-7T>C rs768671312 0.00009
NM_013432.5(TONSL):c.868C>T (p.Leu290=) rs369713643 0.00009
NM_013432.5(TONSL):c.1032G>A (p.Leu344=) rs371662704 0.00008
NM_013432.5(TONSL):c.2540G>A (p.Arg847Gln) rs748273989 0.00008
NM_013432.5(TONSL):c.3429C>T (p.Asp1143=) rs782481529 0.00008
NM_013432.5(TONSL):c.448+16C>T rs545767023 0.00008
NM_013432.5(TONSL):c.1118G>A (p.Arg373His) rs145900712 0.00007
NM_013432.5(TONSL):c.1492G>A (p.Asp498Asn) rs138251107 0.00007
NM_013432.5(TONSL):c.2025C>T (p.Ser675=) rs200998271 0.00007
NM_013432.5(TONSL):c.2469G>A (p.Ala823=) rs776083590 0.00007
NM_013432.5(TONSL):c.2676C>T (p.Asn892=) rs374390874 0.00007
NM_013432.5(TONSL):c.527A>G (p.Gln176Arg) rs373424723 0.00007
NM_013432.5(TONSL):c.557G>A (p.Arg186Lys) rs146629620 0.00007
NM_013432.5(TONSL):c.809G>A (p.Arg270Lys) rs143692519 0.00007
NM_013432.5(TONSL):c.1198C>T (p.Arg400Cys) rs141555983 0.00006
NM_013432.5(TONSL):c.1212C>T (p.Gly404=) rs770180642 0.00006
NM_013432.5(TONSL):c.1672C>T (p.Arg558Trp) rs200628944 0.00006
NM_013432.5(TONSL):c.1869C>T (p.Ser623=) rs756598288 0.00006
NM_013432.5(TONSL):c.2390G>A (p.Arg797Gln) rs376067225 0.00006
NM_013432.5(TONSL):c.2980C>T (p.Pro994Ser) rs777412758 0.00006
NM_013432.5(TONSL):c.3157G>T (p.Ala1053Ser) rs150987844 0.00006
NM_013432.5(TONSL):c.3996G>T (p.Ala1332=) rs376104257 0.00006
NM_013432.5(TONSL):c.866-20C>T rs774619433 0.00006
NM_013432.5(TONSL):c.1155C>T (p.Asn385=) rs141007707 0.00005
NM_013432.5(TONSL):c.1485C>T (p.Asp495=) rs373538875 0.00005
NM_013432.5(TONSL):c.1727A>C (p.Glu576Ala) rs372428837 0.00005
NM_013432.5(TONSL):c.2007G>A (p.Ser669=) rs779227085 0.00005
NM_013432.5(TONSL):c.2156C>T (p.Ser719Phe) rs770891679 0.00005
NM_013432.5(TONSL):c.2288C>T (p.Ser763Leu) rs776417303 0.00005
NM_013432.5(TONSL):c.2497G>A (p.Gly833Arg) rs374417537 0.00005
NM_013432.5(TONSL):c.2551C>T (p.Arg851Trp) rs533837771 0.00005
NM_013432.5(TONSL):c.2570G>A (p.Arg857His) rs148146816 0.00005
NM_013432.5(TONSL):c.2775+4G>C rs574601150 0.00005
NM_013432.5(TONSL):c.3347G>A (p.Arg1116His) rs782170769 0.00005
NM_013432.5(TONSL):c.3636C>T (p.Ser1212=) rs143637335 0.00005
NM_013432.5(TONSL):c.4131C>T (p.Arg1377=) rs782810422 0.00005
NM_013432.5(TONSL):c.933G>A (p.Met311Ile) rs762247306 0.00005
NM_013432.5(TONSL):c.1095G>A (p.Met365Ile) rs201856507 0.00004
NM_013432.5(TONSL):c.1164+18C>T rs779321465 0.00004
NM_013432.5(TONSL):c.1357G>A (p.Glu453Lys) rs189270359 0.00004
NM_013432.5(TONSL):c.1398T>C (p.Asp466=) rs752284925 0.00004
NM_013432.5(TONSL):c.1480+13G>A rs572891243 0.00004
NM_013432.5(TONSL):c.1653+9C>T rs1022798179 0.00004
NM_013432.5(TONSL):c.1673G>A (p.Arg558Gln) rs777654833 0.00004
NM_013432.5(TONSL):c.1891-5C>A rs765355229 0.00004
NM_013432.5(TONSL):c.2248G>A (p.Ala750Thr) rs372270428 0.00004
NM_013432.5(TONSL):c.2467G>A (p.Ala823Thr) rs768180498 0.00004
NM_013432.5(TONSL):c.2735C>T (p.Ser912Leu) rs374183053 0.00004
NM_013432.5(TONSL):c.2760G>A (p.Ala920=) rs774787708 0.00004
NM_013432.5(TONSL):c.3027G>A (p.Ser1009=) rs767239576 0.00004
NM_013432.5(TONSL):c.3165C>T (p.Asp1055=) rs371974054 0.00004
NM_013432.5(TONSL):c.3598G>A (p.Ala1200Thr) rs369586558 0.00004
NM_013432.5(TONSL):c.4080G>A (p.Pro1360=) rs1339719496 0.00004
NM_013432.5(TONSL):c.408C>G (p.Ala136=) rs776854925 0.00004
NM_013432.5(TONSL):c.4127G>A (p.Arg1376Gln) rs1264402952 0.00004
NM_013432.5(TONSL):c.610G>A (p.Ala204Thr) rs547875792 0.00004
NM_013432.5(TONSL):c.642C>T (p.Arg214=) rs765218083 0.00004
NM_013432.5(TONSL):c.643G>A (p.Ala215Thr) rs529698271 0.00004
NM_013432.5(TONSL):c.707G>A (p.Arg236Lys) rs373966287 0.00004
NM_013432.5(TONSL):c.754C>T (p.Leu252Phe) rs746326095 0.00004
NM_013432.5(TONSL):c.866-6C>T rs757197887 0.00004
NM_013432.5(TONSL):c.1040C>T (p.Pro347Leu) rs752005007 0.00003
NM_013432.5(TONSL):c.1145G>A (p.Arg382His) rs370126528 0.00003
NM_013432.5(TONSL):c.1437G>C (p.Glu479Asp) rs770868542 0.00003
NM_013432.5(TONSL):c.1455C>T (p.Ala485=) rs570770510 0.00003
NM_013432.5(TONSL):c.1476G>A (p.Glu492=) rs751909785 0.00003
NM_013432.5(TONSL):c.1627C>T (p.Arg543Cys) rs754770644 0.00003
NM_013432.5(TONSL):c.1653+10G>A rs200145824 0.00003
NM_013432.5(TONSL):c.1870G>A (p.Val624Ile) rs143988174 0.00003
NM_013432.5(TONSL):c.1998G>A (p.Ala666=) rs367740000 0.00003
NM_013432.5(TONSL):c.2015-16A>G rs369576006 0.00003
NM_013432.5(TONSL):c.2239G>A (p.Glu747Lys) rs369234807 0.00003
NM_013432.5(TONSL):c.2253C>T (p.Gly751=) rs756871428 0.00003
NM_013432.5(TONSL):c.2442C>T (p.His814=) rs759434896 0.00003
NM_013432.5(TONSL):c.2639G>A (p.Arg880His) rs759080038 0.00003
NM_013432.5(TONSL):c.2759C>T (p.Ala920Val) rs762114163 0.00003
NM_013432.5(TONSL):c.3041C>T (p.Pro1014Leu) rs775868344 0.00003
NM_013432.5(TONSL):c.3085+15A>C rs943756519 0.00003
NM_013432.5(TONSL):c.3237G>A (p.Gly1079=) rs782293739 0.00003
NM_013432.5(TONSL):c.3584C>G (p.Ser1195Cys) rs782693526 0.00003
NM_013432.5(TONSL):c.402G>C (p.Gln134His) rs201534052 0.00003
NM_013432.5(TONSL):c.579-9C>T rs571891911 0.00003
NM_013432.5(TONSL):c.641G>A (p.Arg214His) rs558578623 0.00003
NM_013432.5(TONSL):c.750+11T>C rs760369001 0.00003
NM_013432.5(TONSL):c.1015C>T (p.Arg339Cys) rs749028352 0.00002
NM_013432.5(TONSL):c.1233C>T (p.Ala411=) rs751708460 0.00002
NM_013432.5(TONSL):c.1317C>T (p.Thr439=) rs202099960 0.00002
NM_013432.5(TONSL):c.1440C>T (p.Ser480=) rs777687740 0.00002
NM_013432.5(TONSL):c.1550G>A (p.Arg517Gln) rs759158029 0.00002
NM_013432.5(TONSL):c.1615G>A (p.Glu539Lys) rs370196996 0.00002
NM_013432.5(TONSL):c.1645G>A (p.Val549Met) rs774903577 0.00002
NM_013432.5(TONSL):c.1653+13C>G rs781476777 0.00002
NM_013432.5(TONSL):c.1726+18G>A rs763505153 0.00002
NM_013432.5(TONSL):c.1789G>A (p.Glu597Lys) rs555600105 0.00002
NM_013432.5(TONSL):c.1879C>T (p.Arg627Cys) rs751754276 0.00002
NM_013432.5(TONSL):c.1891-1G>C rs139159346 0.00002
NM_013432.5(TONSL):c.2169G>A (p.Ala723=) rs200147646 0.00002
NM_013432.5(TONSL):c.2265G>A (p.Pro755=) rs755424988 0.00002
NM_013432.5(TONSL):c.242A>G (p.Glu81Gly) rs1013538079 0.00002
NM_013432.5(TONSL):c.2435G>A (p.Arg812Gln) rs757399567 0.00002
NM_013432.5(TONSL):c.2438G>A (p.Gly813Asp) rs764157798 0.00002
NM_013432.5(TONSL):c.2515G>A (p.Asp839Asn) rs767415215 0.00002
NM_013432.5(TONSL):c.2552G>A (p.Arg851Gln) rs762451292 0.00002
NM_013432.5(TONSL):c.2704C>T (p.Pro902Ser) rs778000482 0.00002
NM_013432.5(TONSL):c.2775+5G>T rs773056734 0.00002
NM_013432.5(TONSL):c.2844C>T (p.Val948=) rs1027978591 0.00002
NM_013432.5(TONSL):c.2853-16G>A rs1264568213 0.00002
NM_013432.5(TONSL):c.3003C>T (p.Asp1001=) rs558700548 0.00002
NM_013432.5(TONSL):c.3052C>T (p.Arg1018Cys) rs745854629 0.00002
NM_013432.5(TONSL):c.3222G>A (p.Glu1074=) rs781952840 0.00002
NM_013432.5(TONSL):c.3323A>G (p.Asn1108Ser) rs145296463 0.00002
NM_013432.5(TONSL):c.3346C>T (p.Arg1116Cys) rs782353998 0.00002
NM_013432.5(TONSL):c.3560-20G>A rs782138045 0.00002
NM_013432.5(TONSL):c.3735+11G>A rs1554878847 0.00002
NM_013432.5(TONSL):c.3831A>G (p.Ser1277=) rs1416947149 0.00002
NM_013432.5(TONSL):c.3835A>G (p.Ile1279Val) rs566537432 0.00002
NM_013432.5(TONSL):c.3943+6T>A rs376435652 0.00002
NM_013432.5(TONSL):c.449-15G>C rs377315613 0.00002
NM_013432.5(TONSL):c.556A>G (p.Arg186Gly) rs141117208 0.00002
NM_013432.5(TONSL):c.742A>G (p.Ile248Val) rs1274639639 0.00002
NM_013432.5(TONSL):c.788G>A (p.Arg263Gln) rs752858789 0.00002
NM_013432.5(TONSL):c.1016G>A (p.Arg339His) rs199658960 0.00001
NM_013432.5(TONSL):c.1065C>T (p.His355=) rs776707834 0.00001
NM_013432.5(TONSL):c.1117C>T (p.Arg373Cys) rs138497670 0.00001
NM_013432.5(TONSL):c.1222G>A (p.Glu408Lys) rs781444785 0.00001
NM_013432.5(TONSL):c.1235C>T (p.Pro412Leu) rs777939614 0.00001
NM_013432.5(TONSL):c.1250C>T (p.Ala417Val) rs750087651 0.00001
NM_013432.5(TONSL):c.1251G>A (p.Ala417=) rs767188043 0.00001
NM_013432.5(TONSL):c.1290+9G>C rs1823662584 0.00001
NM_013432.5(TONSL):c.1291A>G (p.Arg431Gly) rs1459928273 0.00001
NM_013432.5(TONSL):c.1426G>A (p.Ala476Thr) rs762164028 0.00001
NM_013432.5(TONSL):c.1447C>T (p.Leu483=) rs747885571 0.00001
NM_013432.5(TONSL):c.1459G>A (p.Glu487Lys) rs563710728 0.00001
NM_013432.5(TONSL):c.1480+10A>G rs375003130 0.00001
NM_013432.5(TONSL):c.1480+12C>T rs540192745 0.00001
NM_013432.5(TONSL):c.1480G>A (p.Glu494Lys) rs775551492 0.00001
NM_013432.5(TONSL):c.1481-17G>A rs1823579582 0.00001
NM_013432.5(TONSL):c.1531C>T (p.Gln511Ter) rs761727821 0.00001
NM_013432.5(TONSL):c.1547G>A (p.Arg516Gln) rs762814017 0.00001
NM_013432.5(TONSL):c.155A>T (p.Gln52Leu) rs1391653450 0.00001
NM_013432.5(TONSL):c.1563+13C>G rs530398950 0.00001
NM_013432.5(TONSL):c.1564-2A>G rs943635209 0.00001
NM_013432.5(TONSL):c.1571G>A (p.Arg524Gln) rs1401612084 0.00001
NM_013432.5(TONSL):c.1654-15T>C rs1415407680 0.00001
NM_013432.5(TONSL):c.1768G>A (p.Asp590Asn) rs141468690 0.00001
NM_013432.5(TONSL):c.1816C>T (p.Leu606Phe) rs1440327766 0.00001
NM_013432.5(TONSL):c.1875C>T (p.Thr625=) rs757476067 0.00001
NM_013432.5(TONSL):c.1881C>T (p.Arg627=) rs561334806 0.00001
NM_013432.5(TONSL):c.1958C>T (p.Thr653Met) rs755055463 0.00001
NM_013432.5(TONSL):c.2068G>A (p.Glu690Lys) rs546911071 0.00001
NM_013432.5(TONSL):c.2088C>T (p.Ser696=) rs749942528 0.00001
NM_013432.5(TONSL):c.2105C>G (p.Pro702Arg) rs764563560 0.00001
NM_013432.5(TONSL):c.2126C>T (p.Pro709Leu) rs770142346 0.00001
NM_013432.5(TONSL):c.2191C>T (p.Arg731Trp) rs1024806587 0.00001
NM_013432.5(TONSL):c.2193G>A (p.Arg731=) rs780807306 0.00001
NM_013432.5(TONSL):c.2215A>T (p.Ser739Cys) rs544190218 0.00001
NM_013432.5(TONSL):c.2222G>C (p.Ser741Thr) rs753177583 0.00001
NM_013432.5(TONSL):c.2244C>T (p.Asp748=) rs749220319 0.00001
NM_013432.5(TONSL):c.2281C>T (p.Arg761Trp) rs762928887 0.00001
NM_013432.5(TONSL):c.2303G>A (p.Arg768Gln) rs779585131 0.00001
NM_013432.5(TONSL):c.2328C>T (p.Pro776=) rs545590970 0.00001
NM_013432.5(TONSL):c.2329G>A (p.Ala777Thr) rs780463995 0.00001
NM_013432.5(TONSL):c.2338A>C (p.Arg780=) rs1168819162 0.00001
NM_013432.5(TONSL):c.2351C>G (p.Thr784Arg) rs1396530963 0.00001
NM_013432.5(TONSL):c.2401A>T (p.Ser801Cys) rs1469360335 0.00001
NM_013432.5(TONSL):c.2404G>A (p.Ala802Thr) rs1823439676 0.00001
NM_013432.5(TONSL):c.2407C>T (p.Gln803Ter) rs769100855 0.00001
NM_013432.5(TONSL):c.2408A>G (p.Gln803Arg) rs1421772626 0.00001
NM_013432.5(TONSL):c.2456C>A (p.Ala819Asp) rs760550132 0.00001
NM_013432.5(TONSL):c.2479G>A (p.Glu827Lys) rs1357919581 0.00001
NM_013432.5(TONSL):c.2545C>T (p.Arg849Cys) rs371172887 0.00001
NM_013432.5(TONSL):c.2569C>T (p.Arg857Cys) rs1204250581 0.00001
NM_013432.5(TONSL):c.259T>C (p.Leu87=) rs1344043114 0.00001
NM_013432.5(TONSL):c.2617C>T (p.Arg873Cys) rs757192033 0.00001
NM_013432.5(TONSL):c.2638C>T (p.Arg880Cys) rs764824014 0.00001
NM_013432.5(TONSL):c.2649C>T (p.Cys883=) rs766885473 0.00001
NM_013432.5(TONSL):c.264G>C (p.Gln88His) rs1006613366 0.00001
NM_013432.5(TONSL):c.2667G>A (p.Ala889=) rs772291883 0.00001
NM_013432.5(TONSL):c.2690G>A (p.Ser897Asn) rs1484577765 0.00001
NM_013432.5(TONSL):c.2707C>T (p.Pro903Ser) rs767568847 0.00001
NM_013432.5(TONSL):c.2774T>G (p.Leu925Trp) rs200290630 0.00001
NM_013432.5(TONSL):c.2780C>T (p.Pro927Leu) rs774827204 0.00001
NM_013432.5(TONSL):c.2800C>T (p.Arg934Trp) rs755575416 0.00001
NM_013432.5(TONSL):c.2806C>T (p.Arg936Ter) rs1156410886 0.00001
NM_013432.5(TONSL):c.2856T>C (p.Ser952=) rs1267963247 0.00001
NM_013432.5(TONSL):c.2884G>A (p.Glu962Lys) rs746481264 0.00001
NM_013432.5(TONSL):c.3004G>A (p.Glu1002Lys) rs749575999 0.00001
NM_013432.5(TONSL):c.3058C>T (p.Arg1020Cys) rs777714078 0.00001
NM_013432.5(TONSL):c.3059G>A (p.Arg1020His) rs570393427 0.00001
NM_013432.5(TONSL):c.3061A>G (p.Arg1021Gly) rs753804495 0.00001
NM_013432.5(TONSL):c.3080G>A (p.Gly1027Glu) rs980357465 0.00001
NM_013432.5(TONSL):c.3243G>A (p.Arg1081=) rs200557916 0.00001
NM_013432.5(TONSL):c.3275C>T (p.Ala1092Val) rs1448766253 0.00001
NM_013432.5(TONSL):c.3291G>T (p.Met1097Ile) rs1564728068 0.00001
NM_013432.5(TONSL):c.3312C>T (p.Asp1104=) rs1823331922 0.00001
NM_013432.5(TONSL):c.3358A>T (p.Met1120Leu) rs368520444 0.00001
NM_013432.5(TONSL):c.3487C>T (p.Arg1163Cys) rs781935858 0.00001
NM_013432.5(TONSL):c.3559+15C>T rs782570338 0.00001
NM_013432.5(TONSL):c.3582G>A (p.Leu1194=) rs561907638 0.00001
NM_013432.5(TONSL):c.3630G>A (p.Leu1210=) rs868966822 0.00001
NM_013432.5(TONSL):c.3645C>T (p.Ala1215=) rs544481426 0.00001
NM_013432.5(TONSL):c.3685G>A (p.Gly1229Ser) rs782295121 0.00001
NM_013432.5(TONSL):c.3687C>T (p.Gly1229=) rs555221463 0.00001
NM_013432.5(TONSL):c.3717A>T (p.Val1239=) rs782691076 0.00001
NM_013432.5(TONSL):c.3735+4C>T rs974490798 0.00001
NM_013432.5(TONSL):c.3810-12A>T rs570262287 0.00001
NM_013432.5(TONSL):c.3828C>G (p.Pro1276=) rs1554878425 0.00001
NM_013432.5(TONSL):c.3851C>G (p.Ser1284Cys) rs782783678 0.00001
NM_013432.5(TONSL):c.3858C>G (p.Asn1286Lys) rs377688483 0.00001
NM_013432.5(TONSL):c.4004G>A (p.Arg1335Gln) rs1554878076 0.00001
NM_013432.5(TONSL):c.4041G>A (p.Glu1347=) rs782498566 0.00001
NM_013432.5(TONSL):c.4050C>A (p.Asp1350Glu) rs1554878022 0.00001
NM_013432.5(TONSL):c.448+19G>A rs943386780 0.00001
NM_013432.5(TONSL):c.449-17G>T rs769030259 0.00001
NM_013432.5(TONSL):c.449-18T>A rs748500525 0.00001
NM_013432.5(TONSL):c.502C>T (p.Leu168=) rs563116691 0.00001
NM_013432.5(TONSL):c.579-15G>A rs771060511 0.00001
NM_013432.5(TONSL):c.579-16C>T rs776832691 0.00001
NM_013432.5(TONSL):c.595G>A (p.Glu199Lys) rs1335783881 0.00001
NM_013432.5(TONSL):c.597G>A (p.Glu199=) rs780968081 0.00001
NM_013432.5(TONSL):c.640C>T (p.Arg214Cys) rs763013214 0.00001
NM_013432.5(TONSL):c.645G>A (p.Ala215=) rs746597830 0.00001
NM_013432.5(TONSL):c.686G>A (p.Arg229Gln) rs755568862 0.00001
NM_013432.5(TONSL):c.692G>A (p.Cys231Tyr) rs370598002 0.00001
NM_013432.5(TONSL):c.750+7G>A rs759546531 0.00001
NM_013432.5(TONSL):c.800A>C (p.Lys267Thr) rs756020176 0.00001
NM_013432.5(TONSL):c.865+12G>C rs188240474 0.00001
NM_013432.5(TONSL):c.865+19A>G rs1263786315 0.00001
NM_013432.5(TONSL):c.880C>T (p.Arg294Trp) rs946882247 0.00001
NM_013432.5(TONSL):c.979T>A (p.Phe327Ile) rs375292094 0.00001
NC_000008.10:g.(?_145654526)_(145656554_?)dup
NC_000008.10:g.(?_145654526)_(145669797_?)dup
NC_000008.10:g.(?_145655767)_(145669797_?)dup
NC_000008.10:g.(?_145657648)_(145669797_?)del
NC_000008.10:g.(?_145658472)_(145660261_?)del
NC_000008.10:g.(?_145663834)_(145663963_?)del
NC_000008.10:g.(?_145664016)_(145668209_?)dup
NC_000008.10:g.(?_145666498)_(145668740_?)del
NC_000008.11:g.144433758CT[1]
NM_013432.5(TONSL):c.1002C>T (p.Tyr334=)
NM_013432.5(TONSL):c.1008G>A (p.Lys336=) rs1823694778
NM_013432.5(TONSL):c.1011+12C>T
NM_013432.5(TONSL):c.1011+9C>G
NM_013432.5(TONSL):c.1017T>C (p.Arg339=)
NM_013432.5(TONSL):c.1022C>G (p.Ala341Gly)
NM_013432.5(TONSL):c.1027C>T (p.Leu343=)
NM_013432.5(TONSL):c.1036A>C (p.Arg346=)
NM_013432.5(TONSL):c.1041G>A (p.Pro347=)
NM_013432.5(TONSL):c.1042G>A (p.Gly348Ser) rs763201864
NM_013432.5(TONSL):c.1062C>T (p.Ile354=)
NM_013432.5(TONSL):c.1066G>A (p.Val356Met) rs770935862
NM_013432.5(TONSL):c.1068G>A (p.Val356=)
NM_013432.5(TONSL):c.1072C>T (p.Leu358=)
NM_013432.5(TONSL):c.1093_1094del (p.Met365fs)
NM_013432.5(TONSL):c.1104C>T (p.His368=)
NM_013432.5(TONSL):c.1110G>A (p.Gly370=)
NM_013432.5(TONSL):c.1111del (p.Ala371fs)
NM_013432.5(TONSL):c.1113C>T (p.Ala371=)
NM_013432.5(TONSL):c.1114G>A (p.Val372Met)
NM_013432.5(TONSL):c.1114G>C (p.Val372Leu) rs149456513
NM_013432.5(TONSL):c.1115T>C (p.Val372Ala)
NM_013432.5(TONSL):c.1124A>C (p.Tyr375Ser)
NM_013432.5(TONSL):c.1135C>A (p.Leu379Met)
NM_013432.5(TONSL):c.1136T>G (p.Leu379Arg) rs754059237
NM_013432.5(TONSL):c.1144C>T (p.Arg382Cys)
NM_013432.5(TONSL):c.1150G>A (p.Gly384Ser)
NM_013432.5(TONSL):c.1156G>A (p.Val386Met) rs151056734
NM_013432.5(TONSL):c.1162G>T (p.Glu388Ter)
NM_013432.5(TONSL):c.1164+19G>A
NM_013432.5(TONSL):c.1165-10_1165-8del
NM_013432.5(TONSL):c.1165-11T>C
NM_013432.5(TONSL):c.1165-13C>T
NM_013432.5(TONSL):c.1165-17C>G
NM_013432.5(TONSL):c.1165-17C>T
NM_013432.5(TONSL):c.1165-19G>T
NM_013432.5(TONSL):c.1165-6C>A
NM_013432.5(TONSL):c.1170C>T (p.Ala390=)
NM_013432.5(TONSL):c.1182G>C (p.Leu394=)
NM_013432.5(TONSL):c.1185C>T (p.Asn395=) rs2129680372
NM_013432.5(TONSL):c.1186A>C (p.Ile396Leu) rs770300295
NM_013432.5(TONSL):c.1188T>C (p.Ile396=)
NM_013432.5(TONSL):c.1197C>A (p.Ser399=)
NM_013432.5(TONSL):c.1200C>A (p.Arg400=)
NM_013432.5(TONSL):c.1200C>T (p.Arg400=)
NM_013432.5(TONSL):c.1209C>T (p.Ala403=)
NM_013432.5(TONSL):c.1210G>A (p.Gly404Ser)
NM_013432.5(TONSL):c.1213G>A (p.Asp405Asn)
NM_013432.5(TONSL):c.122-7C>T
NM_013432.5(TONSL):c.1221C>T (p.Tyr407=)
NM_013432.5(TONSL):c.1227G>A (p.Leu409=)
NM_013432.5(TONSL):c.1231G>A (p.Ala411Thr)
NM_013432.5(TONSL):c.125G>A (p.Arg42His)
NM_013432.5(TONSL):c.1276C>T (p.Arg426Cys)
NM_013432.5(TONSL):c.1290+15C>G
NM_013432.5(TONSL):c.1290+2T>C
NM_013432.5(TONSL):c.1290+3G>A
NM_013432.5(TONSL):c.1290+4C>G rs371357002
NM_013432.5(TONSL):c.1290+5G>A
NM_013432.5(TONSL):c.1290+9G>A
NM_013432.5(TONSL):c.1291-11C>T
NM_013432.5(TONSL):c.1291-15C>A rs2129678246
NM_013432.5(TONSL):c.1291-5C>T
NM_013432.5(TONSL):c.1291-6C>T
NM_013432.5(TONSL):c.1291-9G>A
NM_013432.5(TONSL):c.129C>T (p.Tyr43=)
NM_013432.5(TONSL):c.1340A>G (p.Gln447Arg) rs2129677658
NM_013432.5(TONSL):c.1348C>T (p.Pro450Ser)
NM_013432.5(TONSL):c.1351G>C (p.Glu451Gln)
NM_013432.5(TONSL):c.1353_1365del (p.Glu451fs)
NM_013432.5(TONSL):c.1356C>G (p.Thr452=)
NM_013432.5(TONSL):c.1356C>T (p.Thr452=)
NM_013432.5(TONSL):c.1368A>T (p.Leu456=)
NM_013432.5(TONSL):c.1368_1369inv (p.Arg457Trp)
NM_013432.5(TONSL):c.1370G>A (p.Arg457Gln)
NM_013432.5(TONSL):c.1370G>C (p.Arg457Pro) rs772361735
NM_013432.5(TONSL):c.1374G>A (p.Glu458=)
NM_013432.5(TONSL):c.1389AGATGA[1] (p.464DE[1]) rs768606981
NM_013432.5(TONSL):c.1400AGG[3] (p.Glu470del)
NM_013432.5(TONSL):c.1400AGG[7] (p.Glu468_Glu470dup) rs745438969
NM_013432.5(TONSL):c.1404G>A (p.Glu468=) rs778541195
NM_013432.5(TONSL):c.1406AGGAGGCGG[1] (p.469EEA[1]) rs534884350
NM_013432.5(TONSL):c.1406AGGAGGCGG[3] (p.469EEA[3]) rs534884350
NM_013432.5(TONSL):c.1409A>C (p.Glu470Ala)
NM_013432.5(TONSL):c.1422G>A (p.Ala474=)
NM_013432.5(TONSL):c.1433C>A (p.Ala478Glu) rs137885184
NM_013432.5(TONSL):c.1434G>A (p.Ala478=)
NM_013432.5(TONSL):c.1441G>C (p.Glu481Gln)
NM_013432.5(TONSL):c.1449G>A (p.Leu483=)
NM_013432.5(TONSL):c.1452G>A (p.Glu484=)
NM_013432.5(TONSL):c.1456G>A (p.Gly486Ser)
NM_013432.5(TONSL):c.1457_1458delinsTT (p.Gly486Val) rs1823644466
NM_013432.5(TONSL):c.1464G>A (p.Val488=) rs2129675855
NM_013432.5(TONSL):c.1464G>C (p.Val488=) rs2129675855
NM_013432.5(TONSL):c.1480+18C>T
NM_013432.5(TONSL):c.1480+3G>T
NM_013432.5(TONSL):c.1481-15T>G
NM_013432.5(TONSL):c.1481-18G>A rs2129665773
NM_013432.5(TONSL):c.1481-9C>G
NM_013432.5(TONSL):c.1483GAC[1] (p.Asp496del) rs778043482
NM_013432.5(TONSL):c.1486G>A (p.Asp496Asn)
NM_013432.5(TONSL):c.1491C>T (p.Thr497=)
NM_013432.5(TONSL):c.1505C>T (p.Pro502Leu) rs557438514
NM_013432.5(TONSL):c.1516G>A (p.Glu506Lys) rs1221264083
NM_013432.5(TONSL):c.1518G>A (p.Glu506=)
NM_013432.5(TONSL):c.1521C>T (p.Asp507=)
NM_013432.5(TONSL):c.1523A>T (p.Glu508Val) rs2129664960
NM_013432.5(TONSL):c.1542G>A (p.Leu514=)
NM_013432.5(TONSL):c.1546C>T (p.Arg516Trp)
NM_013432.5(TONSL):c.1549C>T (p.Arg517Trp)
NM_013432.5(TONSL):c.1563+10G>A
NM_013432.5(TONSL):c.1563+18C>G
NM_013432.5(TONSL):c.1564-4A>G
NM_013432.5(TONSL):c.1564-8G>T
NM_013432.5(TONSL):c.1570C>T (p.Arg524Trp)
NM_013432.5(TONSL):c.1573C>T (p.Arg525Ter)
NM_013432.5(TONSL):c.1574G>A (p.Arg525Gln)
NM_013432.5(TONSL):c.1579G>A (p.Asp527Asn)
NM_013432.5(TONSL):c.1581C>T (p.Asp527=)
NM_013432.5(TONSL):c.1587G>A (p.Gly529=)
NM_013432.5(TONSL):c.1594C>T (p.Leu532=) rs1194936395
NM_013432.5(TONSL):c.1599G>A (p.Leu533=)
NM_013432.5(TONSL):c.1614C>T (p.Ile538=)
NM_013432.5(TONSL):c.162G>A (p.Leu54=)
NM_013432.5(TONSL):c.1630C>T (p.Arg544Cys)
NM_013432.5(TONSL):c.1637A>G (p.Gln546Arg) rs2129662516
NM_013432.5(TONSL):c.1653+12T>G rs1823561721
NM_013432.5(TONSL):c.1653+16G>A rs757389860
NM_013432.5(TONSL):c.1653+18A>T
NM_013432.5(TONSL):c.1653+19C>T
NM_013432.5(TONSL):c.1653+6C>T
NM_013432.5(TONSL):c.1661C>T (p.Pro554Leu) rs1823497052
NM_013432.5(TONSL):c.1670C>G (p.Pro557Arg)
NM_013432.5(TONSL):c.1691C>T (p.Thr564Ile)
NM_013432.5(TONSL):c.1693C>T (p.Pro565Ser)
NM_013432.5(TONSL):c.169C>T (p.Arg57Trp)
NM_013432.5(TONSL):c.1701C>T (p.His567=)
NM_013432.5(TONSL):c.170G>A (p.Arg57Gln)
NM_013432.5(TONSL):c.1713C>T (p.Asn571=)
NM_013432.5(TONSL):c.1716C>T (p.Tyr572=)
NM_013432.5(TONSL):c.171G>A (p.Arg57=)
NM_013432.5(TONSL):c.1726+5G>A
NM_013432.5(TONSL):c.1726+8A>G
NM_013432.5(TONSL):c.1727-16G>A
NM_013432.5(TONSL):c.1727-17C>G
NM_013432.5(TONSL):c.1727-17C>T
NM_013432.5(TONSL):c.1727-7T>C
NM_013432.5(TONSL):c.1727-9G>A
NM_013432.5(TONSL):c.1744C>A (p.Leu582Met) rs1823486062
NM_013432.5(TONSL):c.1752C>T (p.His584=)
NM_013432.5(TONSL):c.1758C>G (p.Ala586=)
NM_013432.5(TONSL):c.1758C>T (p.Ala586=)
NM_013432.5(TONSL):c.175C>G (p.Arg59Gly)
NM_013432.5(TONSL):c.175C>T (p.Arg59Cys)
NM_013432.5(TONSL):c.1765_1768del (p.Asp589fs)
NM_013432.5(TONSL):c.176G>T (p.Arg59Leu)
NM_013432.5(TONSL):c.1788C>T (p.Cys596=)
NM_013432.5(TONSL):c.1791A>C (p.Glu597Asp) rs2129649008
NM_013432.5(TONSL):c.1794C>T (p.Gly598=)
NM_013432.5(TONSL):c.1799C>T (p.Thr600Ile) rs762039973
NM_013432.5(TONSL):c.1800C>T (p.Thr600=) rs1465368820
NM_013432.5(TONSL):c.1803C>T (p.Pro601=)
NM_013432.5(TONSL):c.1815C>T (p.Ala605=)
NM_013432.5(TONSL):c.1820A>G (p.Asn607Ser)
NM_013432.5(TONSL):c.1822T>G (p.Cys608Gly) rs746801533
NM_013432.5(TONSL):c.182_192del (p.Asp61fs)
NM_013432.5(TONSL):c.1830C>T (p.His610=)
NM_013432.5(TONSL):c.1834G>A (p.Glu612Lys)
NM_013432.5(TONSL):c.1842T>C (p.Ala614=)
NM_013432.5(TONSL):c.1852C>G (p.Leu618Val)
NM_013432.5(TONSL):c.1858C>A (p.Arg620=) rs34978644
NM_013432.5(TONSL):c.1858C>T (p.Arg620Trp)
NM_013432.5(TONSL):c.1859G>A (p.Arg620Gln)
NM_013432.5(TONSL):c.1862G>A (p.Gly621Glu)
NM_013432.5(TONSL):c.1864dup (p.Ala622fs) rs762903420
NM_013432.5(TONSL):c.186C>T (p.Asp62=)
NM_013432.5(TONSL):c.1872C>T (p.Val624=)
NM_013432.5(TONSL):c.1883C>T (p.Thr628Ile)
NM_013432.5(TONSL):c.1884T>A (p.Thr628=)
NM_013432.5(TONSL):c.1884T>C (p.Thr628=)
NM_013432.5(TONSL):c.1885C>T (p.Arg629Ter)
NM_013432.5(TONSL):c.1889A>C (p.Lys630Thr) rs2129647928
NM_013432.5(TONSL):c.1890+12G>A
NM_013432.5(TONSL):c.1890+18G>A
NM_013432.5(TONSL):c.1891-10T>G
NM_013432.5(TONSL):c.1891-15A>T
NM_013432.5(TONSL):c.1891-7C>A
NM_013432.5(TONSL):c.1902G>A (p.Pro634=)
NM_013432.5(TONSL):c.1902G>T (p.Pro634=)
NM_013432.5(TONSL):c.1905G>A (p.Leu635=) rs1823474018
NM_013432.5(TONSL):c.1920G>A (p.Gln640=)
NM_013432.5(TONSL):c.1926G>A (p.Val642=)
NM_013432.5(TONSL):c.1936C>G (p.Arg646Gly)
NM_013432.5(TONSL):c.1936C>T (p.Arg646Cys) rs546749458
NM_013432.5(TONSL):c.193G>A (p.Gly65Ser)
NM_013432.5(TONSL):c.1941G>A (p.Arg647=)
NM_013432.5(TONSL):c.1946T>C (p.Leu649Pro)
NM_013432.5(TONSL):c.1947G>A (p.Leu649=)
NM_013432.5(TONSL):c.1959G>A (p.Thr653=)
NM_013432.5(TONSL):c.1997C>A (p.Ala666Glu)
NM_013432.5(TONSL):c.2006C>T (p.Ser669Leu) rs748359246
NM_013432.5(TONSL):c.2014+12G>A
NM_013432.5(TONSL):c.2014+5G>A rs916572486
NM_013432.5(TONSL):c.2015-12T>C
NM_013432.5(TONSL):c.2015-18G>C
NM_013432.5(TONSL):c.2015-18G>T
NM_013432.5(TONSL):c.2019C>T (p.Pro673=)
NM_013432.5(TONSL):c.201C>T (p.Ala67=)
NM_013432.5(TONSL):c.2020_2029del (p.His674fs)
NM_013432.5(TONSL):c.2022C>T (p.His674=)
NM_013432.5(TONSL):c.2040C>T (p.His680=)
NM_013432.5(TONSL):c.2041A>T (p.Thr681Ser)
NM_013432.5(TONSL):c.2047A>G (p.Ser683Gly)
NM_013432.5(TONSL):c.2067C>T (p.Pro689=)
NM_013432.5(TONSL):c.2070G>T (p.Glu690Asp)
NM_013432.5(TONSL):c.2077CCT[1] (p.Pro694del) rs1246240558
NM_013432.5(TONSL):c.2089C>T (p.Pro697Ser)
NM_013432.5(TONSL):c.2100A>G (p.Glu700=) rs1272209918
NM_013432.5(TONSL):c.2112T>C (p.Asn704=)
NM_013432.5(TONSL):c.2117C>T (p.Thr706Ile)
NM_013432.5(TONSL):c.2128G>A (p.Glu710Lys) rs1823455407
NM_013432.5(TONSL):c.2133C>A (p.Ala711=)
NM_013432.5(TONSL):c.2133C>G (p.Ala711=)
NM_013432.5(TONSL):c.2133C>T (p.Ala711=)
NM_013432.5(TONSL):c.2139G>T (p.Gln713His)
NM_013432.5(TONSL):c.2154C>T (p.Val718=)
NM_013432.5(TONSL):c.2163G>A (p.Gly721=)
NM_013432.5(TONSL):c.2174C>T (p.Pro725Leu)
NM_013432.5(TONSL):c.2176G>A (p.Ala726Thr)
NM_013432.5(TONSL):c.2192G>A (p.Arg731Gln)
NM_013432.5(TONSL):c.2196G>T (p.Arg732Ser) rs2129643227
NM_013432.5(TONSL):c.2199C>G (p.Ser733Arg) rs2129643219
NM_013432.5(TONSL):c.219C>T (p.Ile73=)
NM_013432.5(TONSL):c.2205T>C (p.His735=)
NM_013432.5(TONSL):c.2214C>T (p.Ala738=) rs1180485022
NM_013432.5(TONSL):c.2215AGC[6] (p.Ser744dup) rs747457080
NM_013432.5(TONSL):c.2215AGC[7] (p.Ser744_Glu745insSerSer)
NM_013432.5(TONSL):c.2245A>G (p.Ser749Gly)
NM_013432.5(TONSL):c.2249C>T (p.Ala750Val)
NM_013432.5(TONSL):c.2252G>T (p.Gly751Val)
NM_013432.5(TONSL):c.2256C>T (p.Pro752=)
NM_013432.5(TONSL):c.2260C>T (p.Arg754Trp)
NM_013432.5(TONSL):c.2270A>G (p.Gln757Arg)
NM_013432.5(TONSL):c.2274G>A (p.Lys758=)
NM_013432.5(TONSL):c.2279C>T (p.Pro760Leu)
NM_013432.5(TONSL):c.2289G>A (p.Ser763=)
NM_013432.5(TONSL):c.2298A>T (p.Ala766=)
NM_013432.5(TONSL):c.2304G>A (p.Arg768=)
NM_013432.5(TONSL):c.2318C>T (p.Thr773Met)
NM_013432.5(TONSL):c.2328C>A (p.Pro776=)
NM_013432.5(TONSL):c.2334C>T (p.Ser778=)
NM_013432.5(TONSL):c.2355C>T (p.Ala785=)
NM_013432.5(TONSL):c.2356A>G (p.Ser786Gly)
NM_013432.5(TONSL):c.2358C>T (p.Ser786=)
NM_013432.5(TONSL):c.235G>A (p.Glu79Lys)
NM_013432.5(TONSL):c.2364C>T (p.Ser788=)
NM_013432.5(TONSL):c.2374_2375insG (p.Tyr792Ter)
NM_013432.5(TONSL):c.2376C>G (p.Tyr792Ter)
NM_013432.5(TONSL):c.2392G>A (p.Gly798Ser)
NM_013432.5(TONSL):c.2394T>C (p.Gly798=)
NM_013432.5(TONSL):c.2397G>A (p.Val799=)
NM_013432.5(TONSL):c.2398G>A (p.Gly800Ser) rs778508899
NM_013432.5(TONSL):c.2408dup (p.Ser804fs)
NM_013432.5(TONSL):c.2418G>A (p.Leu806=)
NM_013432.5(TONSL):c.2421G>T (p.Gly807=)
NM_013432.5(TONSL):c.2428C>T (p.Pro810Ser)
NM_013432.5(TONSL):c.2433G>T (p.Pro811=)
NM_013432.5(TONSL):c.2434C>A (p.Arg812=)
NM_013432.5(TONSL):c.2434C>T (p.Arg812Trp)
NM_013432.5(TONSL):c.2437G>A (p.Gly813Ser)
NM_013432.5(TONSL):c.2454T>G (p.Leu818=)
NM_013432.5(TONSL):c.2455_2456insA (p.Ala819fs)
NM_013432.5(TONSL):c.2456C>G (p.Ala819Gly)
NM_013432.5(TONSL):c.2460C>T (p.Pro820=)
NM_013432.5(TONSL):c.2461C>A (p.Gln821Lys) rs1476178710
NM_013432.5(TONSL):c.2461dup (p.Gln821fs)
NM_013432.5(TONSL):c.2464G>T (p.Ala822Ser)
NM_013432.5(TONSL):c.2468C>T (p.Ala823Val)
NM_013432.5(TONSL):c.2472C>A (p.Leu824=)
NM_013432.5(TONSL):c.2472C>T (p.Leu824=)
NM_013432.5(TONSL):c.2478G>A (p.Pro826=)
NM_013432.5(TONSL):c.2484G>C (p.Glu828Asp)
NM_013432.5(TONSL):c.2487G>A (p.Glu829=)
NM_013432.5(TONSL):c.2500del (p.Asp834fs) rs2130848959
NM_013432.5(TONSL):c.2508G>T (p.Leu836=)
NM_013432.5(TONSL):c.2511G>C (p.Glu837Asp)
NM_013432.5(TONSL):c.2512C>T (p.Leu838=) rs750301237
NM_013432.5(TONSL):c.2518A>G (p.Met840Val)
NM_013432.5(TONSL):c.2521C>T (p.Pro841Ser)
NM_013432.5(TONSL):c.2524C>T (p.Leu842=)
NM_013432.5(TONSL):c.2530C>A (p.Arg844Ser) rs200813129
NM_013432.5(TONSL):c.2530C>T (p.Arg844Cys)
NM_013432.5(TONSL):c.2531G>A (p.Arg844His)
NM_013432.5(TONSL):c.2539C>T (p.Arg847Trp)
NM_013432.5(TONSL):c.2554G>A (p.Gly852Ser)
NM_013432.5(TONSL):c.2558C>T (p.Thr853Ile)
NM_013432.5(TONSL):c.2574G>A (p.Arg858=)
NM_013432.5(TONSL):c.258C>T (p.Ala86=)
NM_013432.5(TONSL):c.2592G>C (p.Gly864=)
NM_013432.5(TONSL):c.2592del (p.Ser865fs)
NM_013432.5(TONSL):c.2594C>T (p.Ser865Leu) rs772396486
NM_013432.5(TONSL):c.2608A>G (p.Ser870Gly)
NM_013432.5(TONSL):c.2613G>A (p.Arg871=)
NM_013432.5(TONSL):c.2613G>T (p.Arg871Ser)
NM_013432.5(TONSL):c.2618G>A (p.Arg873His) rs982377750
NM_013432.5(TONSL):c.2618G>C (p.Arg873Pro)
NM_013432.5(TONSL):c.2621C>T (p.Ala874Val)
NM_013432.5(TONSL):c.2623C>T (p.Arg875Ter) rs568942029
NM_013432.5(TONSL):c.2624G>A (p.Arg875Gln)
NM_013432.5(TONSL):c.2624G>C (p.Arg875Pro) rs147256304
NM_013432.5(TONSL):c.264+9G>A rs774037451
NM_013432.5(TONSL):c.264+9G>T
NM_013432.5(TONSL):c.2641C>T (p.Leu881=)
NM_013432.5(TONSL):c.265-18A>T
NM_013432.5(TONSL):c.265-5C>T
NM_013432.5(TONSL):c.265-6A>G
NM_013432.5(TONSL):c.2665G>A (p.Ala889Thr)
NM_013432.5(TONSL):c.2667G>C (p.Ala889=)
NM_013432.5(TONSL):c.2669C>A (p.Pro890Gln)
NM_013432.5(TONSL):c.2669C>T (p.Pro890Leu) rs1586687244
NM_013432.5(TONSL):c.2685C>G (p.Pro895=)
NM_013432.5(TONSL):c.2701G>A (p.Glu901Lys)
NM_013432.5(TONSL):c.2721C>T (p.Ser907=)
NM_013432.5(TONSL):c.2721del (p.Ser907fs)
NM_013432.5(TONSL):c.2723C>T (p.Thr908Ile)
NM_013432.5(TONSL):c.2725C>A (p.Pro909Thr)
NM_013432.5(TONSL):c.2727C>A (p.Pro909=)
NM_013432.5(TONSL):c.2734T>C (p.Ser912Pro)
NM_013432.5(TONSL):c.2748G>A (p.Gly916=)
NM_013432.5(TONSL):c.2756C>G (p.Ser919Cys)
NM_013432.5(TONSL):c.2775+14_2775+24del
NM_013432.5(TONSL):c.2775+20G>A
NM_013432.5(TONSL):c.2786C>T (p.Pro929Leu)
NM_013432.5(TONSL):c.2787G>T (p.Pro929=) rs983825450
NM_013432.5(TONSL):c.2790C>T (p.Pro930=)
NM_013432.5(TONSL):c.2796C>T (p.Pro932=)
NM_013432.5(TONSL):c.2852+10C>T
NM_013432.5(TONSL):c.2852+13C>G
NM_013432.5(TONSL):c.2852+13C>T
NM_013432.5(TONSL):c.2853-17C>T
NM_013432.5(TONSL):c.2853-20C>T
NM_013432.5(TONSL):c.2853-28AGC[5] rs760826848
NM_013432.5(TONSL):c.2853-8C>G rs2130846540
NM_013432.5(TONSL):c.2862C>A (p.Thr954=)
NM_013432.5(TONSL):c.2865C>T (p.His955=)
NM_013432.5(TONSL):c.2874C>G (p.Ala958=)
NM_013432.5(TONSL):c.2883C>G (p.Ala961=)
NM_013432.5(TONSL):c.2883C>T (p.Ala961=)
NM_013432.5(TONSL):c.2892G>A (p.Ala964=)
NM_013432.5(TONSL):c.2892G>T (p.Ala964=)
NM_013432.5(TONSL):c.290C>T (p.Ala97Val)
NM_013432.5(TONSL):c.2922G>A (p.Leu974=)
NM_013432.5(TONSL):c.292C>T (p.His98Tyr)
NM_013432.5(TONSL):c.2931G>C (p.Arg977Ser)
NM_013432.5(TONSL):c.2938C>T (p.Leu980=) rs760774514
NM_013432.5(TONSL):c.2948_2949del (p.Glu983fs)
NM_013432.5(TONSL):c.2974C>T (p.Leu992Phe)
NM_013432.5(TONSL):c.2989C>T (p.Leu997=)
NM_013432.5(TONSL):c.3000T>G (p.Asn1000Lys) rs2130846184
NM_013432.5(TONSL):c.3006+14C>T
NM_013432.5(TONSL):c.3006+15G>A
NM_013432.5(TONSL):c.3006+19G>C
NM_013432.5(TONSL):c.3006+8G>A
NM_013432.5(TONSL):c.3007-12G>A
NM_013432.5(TONSL):c.3007-13C>T
NM_013432.5(TONSL):c.3007-17A>G
NM_013432.5(TONSL):c.3007-18C>T rs757376878
NM_013432.5(TONSL):c.3007-20C>T
NM_013432.5(TONSL):c.3007G>A (p.Val1003Met) rs546704493
NM_013432.5(TONSL):c.3007G>C (p.Val1003Leu) rs546704493
NM_013432.5(TONSL):c.3026C>T (p.Ser1009Leu)
NM_013432.5(TONSL):c.302G>A (p.Arg101His)
NM_013432.5(TONSL):c.3036G>A (p.Leu1012=)
NM_013432.5(TONSL):c.3039C>T (p.Pro1013=)
NM_013432.5(TONSL):c.3042G>A (p.Pro1014=) rs34180657
NM_013432.5(TONSL):c.3042G>C (p.Pro1014=)
NM_013432.5(TONSL):c.3050A>G (p.Asp1017Gly)
NM_013432.5(TONSL):c.3051C>T (p.Asp1017=)
NM_013432.5(TONSL):c.306C>T (p.Asn102=)
NM_013432.5(TONSL):c.3071A>G (p.Gln1024Arg) rs1823366423
NM_013432.5(TONSL):c.3085+14G>A
NM_013432.5(TONSL):c.3085+16G>C
NM_013432.5(TONSL):c.3085+6G>C
NM_013432.5(TONSL):c.3085+7G>A
NM_013432.5(TONSL):c.3086-10C>T
NM_013432.5(TONSL):c.3086-13A>G
NM_013432.5(TONSL):c.3086-15A>G
NM_013432.5(TONSL):c.3086-4G>A
NM_013432.5(TONSL):c.3086-4G>T rs368440855
NM_013432.5(TONSL):c.3086-8_3086-5del
NM_013432.5(TONSL):c.3093C>T (p.His1031=)
NM_013432.5(TONSL):c.3111C>T (p.Ala1037=) rs142494135
NM_013432.5(TONSL):c.311C>T (p.Thr104Met)
NM_013432.5(TONSL):c.3124G>A (p.Gly1042Ser)
NM_013432.5(TONSL):c.312G>A (p.Thr104=)
NM_013432.5(TONSL):c.3131G>A (p.Gly1044Asp) rs2130844567
NM_013432.5(TONSL):c.3133C>A (p.Leu1045Ile) rs1823341147
NM_013432.5(TONSL):c.3152C>T (p.Ser1051Phe)
NM_013432.5(TONSL):c.3155T>C (p.Leu1052Pro) rs782642873
NM_013432.5(TONSL):c.3178A>G (p.Thr1060Ala)
NM_013432.5(TONSL):c.3179C>T (p.Thr1060Ile)
NM_013432.5(TONSL):c.3181C>G (p.Pro1061Ala) rs781807417
NM_013432.5(TONSL):c.3183_3184del (p.Leu1062fs)
NM_013432.5(TONSL):c.3186G>C (p.Leu1062=)
NM_013432.5(TONSL):c.3189G>A (p.Leu1063=)
NM_013432.5(TONSL):c.3191G>A (p.Arg1064Gln) rs547280505
NM_013432.5(TONSL):c.3192G>A (p.Arg1064=)
NM_013432.5(TONSL):c.3193G>T (p.Ala1065Ser)
NM_013432.5(TONSL):c.3198C>T (p.Leu1066=)
NM_013432.5(TONSL):c.3204G>A (p.Leu1068=)
NM_013432.5(TONSL):c.3218G>A (p.Arg1073Gln)
NM_013432.5(TONSL):c.3219G>C (p.Arg1073=)
NM_013432.5(TONSL):c.3226C>T (p.Arg1076Cys)
NM_013432.5(TONSL):c.3229C>T (p.Leu1077=)
NM_013432.5(TONSL):c.3240C>G (p.Asn1080Lys) rs782514679
NM_013432.5(TONSL):c.3241C>T (p.Arg1081Trp)
NM_013432.5(TONSL):c.3242G>A (p.Arg1081Gln)
NM_013432.5(TONSL):c.3242G>T (p.Arg1081Leu) rs782604369
NM_013432.5(TONSL):c.3245T>G (p.Leu1082Arg) rs2130844235
NM_013432.5(TONSL):c.3246G>A (p.Leu1082=)
NM_013432.5(TONSL):c.3269T>G (p.Leu1090Arg)
NM_013432.5(TONSL):c.3277G>T (p.Ala1093Ser)
NM_013432.5(TONSL):c.3279C>G (p.Ala1093=)
NM_013432.5(TONSL):c.3280C>T (p.Leu1094=)
NM_013432.5(TONSL):c.3288C>T (p.Thr1096=)
NM_013432.5(TONSL):c.3294C>A (p.Pro1098=) rs1823332269
NM_013432.5(TONSL):c.3294C>T (p.Pro1098=)
NM_013432.5(TONSL):c.3336C>G (p.Pro1112=) rs376312635
NM_013432.5(TONSL):c.3342C>A (p.Gly1114=)
NM_013432.5(TONSL):c.335C>T (p.Thr112Ile) rs2129700398
NM_013432.5(TONSL):c.3387+10C>G
NM_013432.5(TONSL):c.3387+10_3387+11del
NM_013432.5(TONSL):c.3387+15A>T
NM_013432.5(TONSL):c.3387+1G>A
NM_013432.5(TONSL):c.3387+1_3387+19del
NM_013432.5(TONSL):c.3387G>A (p.Gln1129=)
NM_013432.5(TONSL):c.3388-17G>A rs782620498
NM_013432.5(TONSL):c.3388-20C>T
NM_013432.5(TONSL):c.3397G>A (p.Glu1133Lys) rs1554879257
NM_013432.5(TONSL):c.339C>T (p.Ile113=)
NM_013432.5(TONSL):c.3404A>G (p.Asp1135Gly)
NM_013432.5(TONSL):c.3417C>T (p.Asn1139=)
NM_013432.5(TONSL):c.3420C>T (p.Pro1140=)
NM_013432.5(TONSL):c.3421C>G (p.Leu1141Val)
NM_013432.5(TONSL):c.3430G>A (p.Gly1144Ser)
NM_013432.5(TONSL):c.343C>T (p.Arg115Cys) rs772412628
NM_013432.5(TONSL):c.3470C>T (p.Pro1157Leu)
NM_013432.5(TONSL):c.3471C>G (p.Pro1157=)
NM_013432.5(TONSL):c.3488G>A (p.Arg1163His)
NM_013432.5(TONSL):c.3497C>T (p.Ala1166Val)
NM_013432.5(TONSL):c.3498G>A (p.Ala1166=) rs550271349
NM_013432.5(TONSL):c.3510C>A (p.Gly1170=) rs1823312603
NM_013432.5(TONSL):c.3522T>C (p.Phe1174=)
NM_013432.5(TONSL):c.3525G>A (p.Leu1175=)
NM_013432.5(TONSL):c.3543G>C (p.Leu1181=)
NM_013432.5(TONSL):c.3548G>A (p.Ser1183Asn)
NM_013432.5(TONSL):c.3549T>C (p.Ser1183=)
NM_013432.5(TONSL):c.3549del (p.Ser1183fs)
NM_013432.5(TONSL):c.3559+10C>T
NM_013432.5(TONSL):c.3559+11C>T
NM_013432.5(TONSL):c.3559+14G>A
NM_013432.5(TONSL):c.3559+19C>T
NM_013432.5(TONSL):c.3559+4A>G
NM_013432.5(TONSL):c.3560-10C>T
NM_013432.5(TONSL):c.3560-11C>T
NM_013432.5(TONSL):c.3560-12G>A
NM_013432.5(TONSL):c.3560-14T>A rs2130840225
NM_013432.5(TONSL):c.3560-15C>G
NM_013432.5(TONSL):c.3560-3C>T
NM_013432.5(TONSL):c.3560-7G>A
NM_013432.5(TONSL):c.3560A>G (p.Asp1187Gly)
NM_013432.5(TONSL):c.3580C>T (p.Leu1194=)
NM_013432.5(TONSL):c.3590C>A (p.Ser1197Tyr)
NM_013432.5(TONSL):c.3590C>G (p.Ser1197Cys)
NM_013432.5(TONSL):c.3600C>G (p.Ala1200=)
NM_013432.5(TONSL):c.3603G>A (p.Leu1201=)
NM_013432.5(TONSL):c.3608C>A (p.Ala1203Asp)
NM_013432.5(TONSL):c.3610_3611delinsTA (p.Pro1204Tyr) rs2130839950
NM_013432.5(TONSL):c.3611del (p.Pro1204fs)
NM_013432.5(TONSL):c.3612T>C (p.Pro1204=)
NM_013432.5(TONSL):c.3613G>A (p.Ala1205Thr)
NM_013432.5(TONSL):c.3613G>T (p.Ala1205Ser)
NM_013432.5(TONSL):c.3616C>G (p.Leu1206Val)
NM_013432.5(TONSL):c.3631C>T (p.Gln1211Ter)
NM_013432.5(TONSL):c.3634A>G (p.Ser1212Gly)
NM_013432.5(TONSL):c.3643G>A (p.Ala1215Thr)
NM_013432.5(TONSL):c.3662T>C (p.Leu1221Ser)
NM_013432.5(TONSL):c.3669C>T (p.Leu1223=)
NM_013432.5(TONSL):c.3675C>T (p.Ser1225=)
NM_013432.5(TONSL):c.3676G>A (p.Val1226Met)
NM_013432.5(TONSL):c.3676G>C (p.Val1226Leu) rs781946714
NM_013432.5(TONSL):c.367C>T (p.His123Tyr)
NM_013432.5(TONSL):c.3681A>G (p.Ala1227=)
NM_013432.5(TONSL):c.3684C>T (p.Ala1228=)
NM_013432.5(TONSL):c.3691G>A (p.Gly1231Ser)
NM_013432.5(TONSL):c.3698C>T (p.Ser1233Leu)
NM_013432.5(TONSL):c.3721C>T (p.Arg1241Ter)
NM_013432.5(TONSL):c.3726C>G (p.Tyr1242Ter)
NM_013432.5(TONSL):c.3729G>C (p.Leu1243=)
NM_013432.5(TONSL):c.3735+16_3735+18del
NM_013432.5(TONSL):c.3735+1G>A
NM_013432.5(TONSL):c.3735+4C>G
NM_013432.5(TONSL):c.3736-12G>C
NM_013432.5(TONSL):c.3736-16C>T
NM_013432.5(TONSL):c.3736-17C>A
NM_013432.5(TONSL):c.3736-18G>T
NM_013432.5(TONSL):c.3736-20G>C rs2130836603
NM_013432.5(TONSL):c.3736-7T>C
NM_013432.5(TONSL):c.378G>A (p.Ser126=)
NM_013432.5(TONSL):c.3793G>A (p.Val1265Ile)
NM_013432.5(TONSL):c.3798A>G (p.Arg1266=)
NM_013432.5(TONSL):c.3799_3800insT (p.Asp1267fs)
NM_013432.5(TONSL):c.3809+20G>A
NM_013432.5(TONSL):c.3810-11T>C
NM_013432.5(TONSL):c.3810-14C>G
NM_013432.5(TONSL):c.3820_3821del (p.Leu1274fs)
NM_013432.5(TONSL):c.3822G>C (p.Leu1274=)
NM_013432.5(TONSL):c.382G>A (p.Asp128Asn)
NM_013432.5(TONSL):c.3841C>T (p.Leu1281=)
NM_013432.5(TONSL):c.3853G>A (p.Ala1285Thr)
NM_013432.5(TONSL):c.3855C>T (p.Ala1285=)
NM_013432.5(TONSL):c.3861T>G (p.Pro1287=)
NM_013432.5(TONSL):c.3891C>T (p.Leu1297=)
NM_013432.5(TONSL):c.3911G>A (p.Arg1304Gln)
NM_013432.5(TONSL):c.3931del (p.Gly1312fs) rs1435018659
NM_013432.5(TONSL):c.3939G>A (p.Leu1313=)
NM_013432.5(TONSL):c.3943+20C>T
NM_013432.5(TONSL):c.3944-10C>T
NM_013432.5(TONSL):c.3944-11C>G
NM_013432.5(TONSL):c.3944-16C>T
NM_013432.5(TONSL):c.3944-19G>T
NM_013432.5(TONSL):c.3944-20T>C
NM_013432.5(TONSL):c.3944-8C>T
NM_013432.5(TONSL):c.3950C>T (p.Ala1317Val) rs1554878111
NM_013432.5(TONSL):c.3961C>T (p.Pro1321Ser) rs782658224
NM_013432.5(TONSL):c.3962C>T (p.Pro1321Leu)
NM_013432.5(TONSL):c.3966G>A (p.Leu1322=)
NM_013432.5(TONSL):c.3967GGCCTG[3] (p.Leu1326_Trp1327insGlyLeu)
NM_013432.5(TONSL):c.3970C>T (p.Leu1324=)
NM_013432.5(TONSL):c.3971T>C (p.Leu1324Pro)
NM_013432.5(TONSL):c.3978G>A (p.Leu1326=)
NM_013432.5(TONSL):c.3993C>T (p.Ala1331=)
NM_013432.5(TONSL):c.4002C>T (p.Leu1334=)
NM_013432.5(TONSL):c.4010T>C (p.Leu1337Pro)
NM_013432.5(TONSL):c.4017G>A (p.Leu1339=)
NM_013432.5(TONSL):c.4021A>G (p.Ser1341Gly)
NM_013432.5(TONSL):c.4027C>T (p.Arg1343Cys)
NM_013432.5(TONSL):c.4028G>A (p.Arg1343His) rs1424959855
NM_013432.5(TONSL):c.403G>A (p.Ala135Thr)
NM_013432.5(TONSL):c.4047G>A (p.Arg1349=)
NM_013432.5(TONSL):c.4056G>A (p.Leu1352=)
NM_013432.5(TONSL):c.4077G>A (p.Arg1359=)
NM_013432.5(TONSL):c.4081G>T (p.Gly1361Cys) rs112909141
NM_013432.5(TONSL):c.4082G>A (p.Gly1361Asp) rs947855895
NM_013432.5(TONSL):c.4082G>T (p.Gly1361Val)
NM_013432.5(TONSL):c.4086C>T (p.Pro1362=)
NM_013432.5(TONSL):c.4089C>T (p.Gly1363=)
NM_013432.5(TONSL):c.4119C>G (p.Leu1373=)
NM_013432.5(TONSL):c.4119CTT[1] (p.Phe1375del)
NM_013432.5(TONSL):c.4127G>C (p.Arg1376Pro)
NM_013432.5(TONSL):c.4136G>A (p.Ter1379=)
NM_013432.5(TONSL):c.420C>T (p.Ser140=)
NM_013432.5(TONSL):c.437del (p.Glu146fs)
NM_013432.5(TONSL):c.442C>T (p.Leu148=)
NM_013432.5(TONSL):c.446A>G (p.Glu149Gly)
NM_013432.5(TONSL):c.448+10C>T
NM_013432.5(TONSL):c.448+13C>G
NM_013432.5(TONSL):c.448+16C>G
NM_013432.5(TONSL):c.448+17G>A rs769696451
NM_013432.5(TONSL):c.448+17G>T
NM_013432.5(TONSL):c.448+40G>A rs2242263
NM_013432.5(TONSL):c.448+9A>G
NM_013432.5(TONSL):c.449-11G>C
NM_013432.5(TONSL):c.449-11G>T
NM_013432.5(TONSL):c.449-11del
NM_013432.5(TONSL):c.449-11dup rs757636828
NM_013432.5(TONSL):c.449-12G>A
NM_013432.5(TONSL):c.449-15G>A
NM_013432.5(TONSL):c.449-16G>A
NM_013432.5(TONSL):c.449-16G>C
NM_013432.5(TONSL):c.449-19T>C
NM_013432.5(TONSL):c.449-4C>T
NM_013432.5(TONSL):c.450G>C (p.Gly150=) rs2129697703
NM_013432.5(TONSL):c.465A>T (p.Gly155=)
NM_013432.5(TONSL):c.466_467delinsTT (p.Glu156Leu) rs2129697535
NM_013432.5(TONSL):c.474T>C (p.Asn158=)
NM_013432.5(TONSL):c.487C>T (p.Arg163Cys)
NM_013432.5(TONSL):c.488G>A (p.Arg163His)
NM_013432.5(TONSL):c.489C>T (p.Arg163=)
NM_013432.5(TONSL):c.490C>G (p.Leu164Val)
NM_013432.5(TONSL):c.513C>T (p.Thr171=) rs1277838673
NM_013432.5(TONSL):c.529C>T (p.Gln177Ter)
NM_013432.5(TONSL):c.547G>A (p.Asp183Asn)
NM_013432.5(TONSL):c.561G>C (p.Lys187Asn)
NM_013432.5(TONSL):c.562A>G (p.Ser188Gly)
NM_013432.5(TONSL):c.576G>T (p.Ala192=) rs755618655
NM_013432.5(TONSL):c.578+13C>T rs2129696578
NM_013432.5(TONSL):c.578+15C>G
NM_013432.5(TONSL):c.578+15C>T rs200178912
NM_013432.5(TONSL):c.578+16G>A
NM_013432.5(TONSL):c.578+16G>C
NM_013432.5(TONSL):c.579-11C>T
NM_013432.5(TONSL):c.579-3C>T
NM_013432.5(TONSL):c.579G>A (p.Glu193=) rs1823754304
NM_013432.5(TONSL):c.585C>T (p.Asn195=)
NM_013432.5(TONSL):c.601C>G (p.Leu201Val)
NM_013432.5(TONSL):c.608G>A (p.Arg203His)
NM_013432.5(TONSL):c.609C>T (p.Arg203=)
NM_013432.5(TONSL):c.613C>T (p.Arg205Cys)
NM_013432.5(TONSL):c.614G>A (p.Arg205His)
NM_013432.5(TONSL):c.619A>G (p.Asn207Asp) rs2129694807
NM_013432.5(TONSL):c.641G>T (p.Arg214Leu)
NM_013432.5(TONSL):c.649C>G (p.Gln217Glu)
NM_013432.5(TONSL):c.650A>G (p.Gln217Arg)
NM_013432.5(TONSL):c.656C>G (p.Ser219Cys)
NM_013432.5(TONSL):c.663T>C (p.Ala221=)
NM_013432.5(TONSL):c.664A>G (p.Met222Val)
NM_013432.5(TONSL):c.687G>A (p.Arg229=)
NM_013432.5(TONSL):c.688G>T (p.Glu230Ter)
NM_013432.5(TONSL):c.690G>A (p.Glu230=)
NM_013432.5(TONSL):c.692G>T (p.Cys231Phe)
NM_013432.5(TONSL):c.695C>T (p.Ala232Val)
NM_013432.5(TONSL):c.696G>A (p.Ala232=)
NM_013432.5(TONSL):c.699C>T (p.His233=)
NM_013432.5(TONSL):c.701C>T (p.Thr234Ile)
NM_013432.5(TONSL):c.704T>A (p.Met235Lys)
NM_013432.5(TONSL):c.706_725dup (p.Ser242fs) rs2129693896
NM_013432.5(TONSL):c.713G>A (p.Arg238Gln)
NM_013432.5(TONSL):c.735C>T (p.Cys245=)
NM_013432.5(TONSL):c.736G>A (p.Val246Met)
NM_013432.5(TONSL):c.739G>A (p.Val247Ile)
NM_013432.5(TONSL):c.740_750+17del
NM_013432.5(TONSL):c.750+10G>A
NM_013432.5(TONSL):c.750+10G>T
NM_013432.5(TONSL):c.750+13C>A rs1319771886
NM_013432.5(TONSL):c.750+17G>A
NM_013432.5(TONSL):c.750+18C>T
NM_013432.5(TONSL):c.750+1G>A
NM_013432.5(TONSL):c.750+2T>C
NM_013432.5(TONSL):c.751-10T>G
NM_013432.5(TONSL):c.751-2A>C
NM_013432.5(TONSL):c.751-8del
NM_013432.5(TONSL):c.757C>G (p.Gln253Glu)
NM_013432.5(TONSL):c.775_776del (p.Leu259fs) rs1246994520
NM_013432.5(TONSL):c.786G>A (p.Lys262=)
NM_013432.5(TONSL):c.787C>A (p.Arg263=)
NM_013432.5(TONSL):c.787C>T (p.Arg263Ter) rs372806119
NM_013432.5(TONSL):c.788G>C (p.Arg263Pro)
NM_013432.5(TONSL):c.795G>C (p.Leu265=)
NM_013432.5(TONSL):c.799A>G (p.Lys267Glu)
NM_013432.5(TONSL):c.804C>T (p.Ala268=)
NM_013432.5(TONSL):c.815G>A (p.Gly272Asp) rs767283288
NM_013432.5(TONSL):c.815G>T (p.Gly272Val)
NM_013432.5(TONSL):c.823A>T (p.Lys275Ter)
NM_013432.5(TONSL):c.824A>G (p.Lys275Arg)
NM_013432.5(TONSL):c.834G>A (p.Gln278=)
NM_013432.5(TONSL):c.854A>G (p.Asn285Ser)
NM_013432.5(TONSL):c.865+15_865+16delinsCG
NM_013432.5(TONSL):c.865+15_865+16delinsCT
NM_013432.5(TONSL):c.865+15del
NM_013432.5(TONSL):c.865+17G>A
NM_013432.5(TONSL):c.865+17G>C
NM_013432.5(TONSL):c.865+20T>C
NM_013432.5(TONSL):c.866-19A>G
NM_013432.5(TONSL):c.866-3C>T
NM_013432.5(TONSL):c.866-4G>A
NM_013432.5(TONSL):c.881G>T (p.Arg294Leu)
NM_013432.5(TONSL):c.923A>G (p.Gln308Arg)
NM_013432.5(TONSL):c.928G>A (p.Ala310Thr)
NM_013432.5(TONSL):c.934G>T (p.Val312Phe)
NM_013432.5(TONSL):c.945G>A (p.Glu315=)
NM_013432.5(TONSL):c.948G>A (p.Gln316=)
NM_013432.5(TONSL):c.948G>T (p.Gln316His)
NM_013432.5(TONSL):c.959T>G (p.Leu320Arg)
NM_013432.5(TONSL):c.966del (p.Lys323fs)
NM_013432.5(TONSL):c.991G>A (p.Ala331Thr)
NM_013432.5(TONSL):c.998C>T (p.Ala333Val)

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