ClinVar Miner

List of variants in gene TRDN

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1245
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HGVS dbSNP gnomAD frequency
NM_006073.4(TRDN):c.1369+229C>A rs9375250 0.92706
NM_006073.4(TRDN):c.1274-105A>G rs7769808 0.92623
NM_006073.4(TRDN):c.1738+216C>T rs1367677 0.86484
NM_006073.4(TRDN):c.485-266T>C rs9385302 0.85914
NM_006073.4(TRDN):c.601C>G (p.Leu201Val) rs6902416 0.84721
NM_006073.4(TRDN):c.611-321A>G rs7746262 0.83914
NM_006073.4(TRDN):c.*62G>A rs361508 0.83794
NM_006073.4(TRDN):c.853+243C>T rs9401673 0.83151
NM_006073.4(TRDN):c.794-231C>G rs4576276 0.82862
NM_006073.4(TRDN):c.794-183T>C rs9375256 0.82842
NM_006073.4(TRDN):c.23-155C>T rs1407220 0.77320
NM_006073.4(TRDN):c.484+1457C>T rs9490795 0.56990
NM_006073.4(TRDN):c.484+921T>C rs9490796 0.56960
NM_006073.4(TRDN):c.484+61C>T rs12198164 0.56954
NM_006073.4(TRDN):c.484+113C>G rs12196787 0.56951
NM_006073.4(TRDN):c.484+204A>T rs4996639 0.56940
NM_006073.4(TRDN):c.425-155T>A rs4897276 0.56939
NM_006073.4(TRDN):c.484+41C>T rs12198167 0.56890
NM_006073.4(TRDN):c.1472-269G>A rs6903274 0.53121
NM_006073.4(TRDN):c.383C>G (p.Thr128Ser) rs9490809 0.50546
NM_006073.4(TRDN):c.392-148C>T rs7450199 0.50546
NM_006073.4(TRDN):c.*61A>G rs1259 0.49249
NM_006073.4(TRDN):c.1739-210G>A rs10457445 0.45907
NM_006073.4(TRDN):c.2051-19G>A rs7754205 0.42872
NM_006073.4(TRDN):c.*137G>A rs361509 0.42854
NM_006073.4(TRDN):c.1870+109G>A rs12661887 0.41817
NM_006073.4(TRDN):c.1420+84T>C rs12216080 0.39585
NM_006073.4(TRDN):c.232+67C>T rs2145735 0.37396
NM_006073.4(TRDN):c.1188A>G (p.Lys396=) rs6901953 0.35392
NM_006073.4(TRDN):c.23-60C>T rs2295732 0.35382
NM_006073.4(TRDN):c.1186+16C>T rs3813328 0.33405
NM_006073.4(TRDN):c.992-203G>A rs6922593 0.29428
NM_006073.4(TRDN):c.1420+93A>G rs1157133 0.26492
NM_006073.4(TRDN):c.1721-127A>T rs1367676 0.23571
NM_006073.4(TRDN):c.1870+94G>A rs9375235 0.23152
NM_006073.4(TRDN):c.232+186C>T rs13200076 0.18130
NM_006073.4(TRDN):c.22+276T>G rs9490844 0.17703
NM_006073.4(TRDN):c.1257C>A (p.Asp419Glu) rs17737379 0.17356
NM_006073.4(TRDN):c.1568-54T>G rs2873478 0.17031
NM_006073.4(TRDN):c.1370-11C>A rs9401658 0.16989
NM_006073.4(TRDN):c.1804+163G>T rs9375238 0.16519
NM_006073.4(TRDN):c.1211T>G (p.Val404Gly) rs28494009 0.16504
NM_006073.4(TRDN):c.1106-137A>G rs17737834 0.15558
NM_006073.4(TRDN):c.1166-107A>C rs9482382 0.15555
NM_006073.4(TRDN):c.1165+95G>A rs56239280 0.15468
NM_006073.4(TRDN):c.1105+113C>A rs73771940 0.15298
NM_006073.4(TRDN):c.932-271A>G rs9490752 0.15159
NM_006073.4(TRDN):c.991+122G>A rs9320937 0.15154
NM_006073.4(TRDN):c.1051+232A>C rs9482386 0.14368
NM_006073.4(TRDN):c.1805-156C>T rs28502524 0.14306
NM_006073.4(TRDN):c.854-237A>G rs10499123 0.12578
NM_006073.4(TRDN):c.1274-290A>C rs11967561 0.09139
NM_006073.4(TRDN):c.1408C>A (p.Leu470Met) rs6569336 0.09024
NM_006073.4(TRDN):c.1321+39G>C rs11964350 0.08924
NM_006073.3(TRDN):c.-573A>C rs3813325 0.08644
NM_006073.3(TRDN):c.-459C>G rs73540855 0.08378
NM_006073.4(TRDN):c.1370-83A>C rs6569337 0.08033
NM_006073.4(TRDN):c.1537+30C>T rs113656748 0.07059
NM_006073.4(TRDN):c.1672+221C>A rs60681476 0.07041
NM_006073.4(TRDN):c.550+98A>C rs17085424 0.06727
NM_006073.4(TRDN):c.232+24T>C rs12193784 0.06493
NM_006073.4(TRDN):c.1537+135G>T rs17735121 0.04848
NM_006073.4(TRDN):c.23-228A>C rs78138459 0.03847
NM_006073.4(TRDN):c.23-227G>T rs74411605 0.03845
NC_000006.12:g.123637427A>G rs9490845 0.03801
NM_006073.4(TRDN):c.1976-225C>G rs9490706 0.03786
NM_006073.4(TRDN):c.-135A>G rs75178035 0.03524
NM_006073.4(TRDN):c.391+140T>C rs7744159 0.03361
NM_006073.4(TRDN):c.424+197T>C rs73536772 0.03357
NM_006073.4(TRDN):c.1805-6C>T rs201544606 0.03259
NM_006073.4(TRDN):c.1105+5G>A rs41284430 0.03253
NM_006073.4(TRDN):c.1805-5dup rs755375052 0.02440
NM_006073.4(TRDN):c.*220C>T rs77049316 0.01894
NM_006073.4(TRDN):c.1598-36G>A rs7751099 0.01853
NM_006073.4(TRDN):c.1871-219C>T rs113075572 0.01848
NM_006073.4(TRDN):c.1246+199C>T rs12202154 0.01846
NM_006073.4(TRDN):c.1906+122T>C rs73549395 0.01803
NM_006073.4(TRDN):c.1804+295A>G rs73551203 0.01802
NM_006073.4(TRDN):c.1721-24T>C rs7772170 0.01801
NM_006073.4(TRDN):c.484+1458G>A rs75848919 0.01754
NM_006073.4(TRDN):c.1598-266G>A rs73551207 0.01559
NM_006073.4(TRDN):c.1620A>G (p.Ile540Met) rs7771303 0.01556
NM_006073.4(TRDN):c.424+42T>G rs58111898 0.01365
NM_006073.4(TRDN):c.1096G>A (p.Ala366Thr) rs35047281 0.01253
NM_006073.4(TRDN):c.1186+93T>C rs148318256 0.01241
NM_006073.4(TRDN):c.1016G>A (p.Ser339Asn) rs35766971 0.01214
NM_006073.4(TRDN):c.233-215C>A rs112674658 0.01211
NM_006073.4(TRDN):c.1420+196T>C rs62418962 0.01196
NM_006073.4(TRDN):c.992-272A>G rs6902527 0.01014
NM_006073.4(TRDN):c.403G>A (p.Glu135Lys) rs192289289 0.00900
NM_006073.4(TRDN):c.1136-213G>A rs150729739 0.00821
NM_006073.4(TRDN):c.1471+193T>C rs78119864 0.00820
NM_006073.4(TRDN):c.1322-224A>G rs148246210 0.00807
NM_006073.4(TRDN):c.1831+39G>C rs150228080 0.00773
NM_006073.4(TRDN):c.424+244C>G rs114907207 0.00763
NM_006073.4(TRDN):c.1673-141A>G rs139995898 0.00731
NM_006073.4(TRDN):c.1871-15G>A rs59935057 0.00724
NM_006073.4(TRDN):c.1871-296A>G rs59850790 0.00724
NM_006073.4(TRDN):c.1975+213T>C rs79488030 0.00724
NM_006073.4(TRDN):c.1739-45_1739-42dup rs143258292 0.00722
NM_006073.4(TRDN):c.1805-134T>C rs57851599 0.00722
NM_006073.4(TRDN):c.1906+167A>G rs56897615 0.00722
NM_006073.4(TRDN):c.1805-224A>G rs74897366 0.00721
NM_006073.4(TRDN):c.1871-323C>T rs116856903 0.00721
NM_006073.4(TRDN):c.274G>A (p.Val92Ile) rs34808221 0.00711
NM_006073.4(TRDN):c.1721-203C>T rs142776178 0.00703
NM_006073.4(TRDN):c.1721-92A>C rs148180593 0.00654
NM_006073.4(TRDN):c.1538-13T>G rs55704802 0.00651
NM_006073.4(TRDN):c.550+105del rs139524395 0.00651
NM_006073.4(TRDN):c.23-69A>C rs115098412 0.00624
NM_006073.4(TRDN):c.1322-179C>T rs6939956 0.00613
NM_006073.4(TRDN):c.392-312T>C rs141228233 0.00607
NM_006073.4(TRDN):c.853+270A>C rs139389287 0.00552
NC_000006.12:g.123637165A>C rs138029772 0.00537
NM_006073.4(TRDN):c.1537+280A>T rs61552574 0.00523
NM_006073.4(TRDN):c.1322-130G>C rs115262806 0.00511
NC_000006.12:g.123637274T>A rs114536040 0.00509
NM_006073.4(TRDN):c.484+39T>C rs186663059 0.00501
NM_006073.4(TRDN):c.1247-281T>C rs1431285 0.00496
NM_006073.4(TRDN):c.232+189T>C rs370169442 0.00462
NM_006073.4(TRDN):c.1567+19T>C rs182813107 0.00459
NM_006073.4(TRDN):c.854-188T>C rs118071386 0.00449
NM_006073.4(TRDN):c.1247-201C>A rs113726321 0.00443
NM_006073.4(TRDN):c.1721-4A>G rs60743141 0.00430
NM_006073.4(TRDN):c.23-149G>T rs181307617 0.00417
NM_006073.4(TRDN):c.1166-52C>T rs34907562 0.00404
NM_006073.4(TRDN):c.1625-61C>T rs531233884 0.00358
NM_006073.4(TRDN):c.1421-147_1421-145dup rs571908007 0.00346
NM_006073.4(TRDN):c.233-162G>A rs73770167 0.00327
NM_006073.4(TRDN):c.*122T>A rs73543127 0.00318
NM_006073.4(TRDN):c.391+42A>C rs148949005 0.00313
NM_006073.4(TRDN):c.2014+278A>G rs192939629 0.00308
NM_006073.4(TRDN):c.1510G>A (p.Gly504Ser) rs150531306 0.00305
NM_006073.4(TRDN):c.1624+30G>A rs115962539 0.00305
NM_006073.4(TRDN):c.1420+37T>A rs563637259 0.00282
NM_006073.4(TRDN):c.854-84A>G rs183008035 0.00278
NM_006073.4(TRDN):c.430C>T (p.His144Tyr) rs79182520 0.00232
NM_006073.4(TRDN):c.1370-44C>T rs77979174 0.00196
NM_006073.4(TRDN):c.1531C>A (p.Pro511Thr) rs146935076 0.00183
NM_006073.4(TRDN):c.793+61T>C rs572614305 0.00177
NM_006073.4(TRDN):c.991+94C>T rs772237078 0.00166
NM_006073.4(TRDN):c.1713A>C (p.Glu571Asp) rs201115952 0.00133
NM_006073.4(TRDN):c.1367A>G (p.Gln456Arg) rs200243235 0.00128
NM_006073.4(TRDN):c.932-4C>G rs77768246 0.00098
NM_006073.4(TRDN):c.1165+48A>G rs74488301 0.00091
NM_006073.4(TRDN):c.84C>T (p.Pro28=) rs145992727 0.00070
NM_006073.4(TRDN):c.277C>T (p.Arg93Cys) rs370788759 0.00060
NM_006073.4(TRDN):c.-26A>G rs372934247 0.00045
NM_006073.4(TRDN):c.1895G>A (p.Arg632Lys) rs181571822 0.00044
NM_006073.4(TRDN):c.611-19A>T rs142018848 0.00044
NM_006073.4(TRDN):c.546G>A (p.Lys182=) rs377594350 0.00042
NM_006073.4(TRDN):c.1193A>T (p.Glu398Val) rs374355537 0.00041
NM_006073.4(TRDN):c.1538-19T>A rs142237914 0.00038
NM_006073.4(TRDN):c.1472-12G>A rs375364108 0.00036
NM_006073.4(TRDN):c.367G>A (p.Asp123Asn) rs201021891 0.00036
NM_006073.4(TRDN):c.*15C>T rs369648462 0.00035
NM_006073.4(TRDN):c.71T>A (p.Val24Glu) rs201097255 0.00034
NM_006073.4(TRDN):c.1273+31A>G rs9388232 0.00033
NM_006073.4(TRDN):c.1472-13C>T rs367962513 0.00033
NM_006073.4(TRDN):c.992-17T>G rs189142809 0.00029
NM_006073.4(TRDN):c.1811C>T (p.Thr604Ile) rs763939252 0.00028
NM_006073.4(TRDN):c.2187G>T (p.Gln729His) rs373439044 0.00026
NM_006073.4(TRDN):c.1783+18G>A rs374452538 0.00023
NM_006073.4(TRDN):c.375C>T (p.Asp125=) rs377440434 0.00022
NM_006073.4(TRDN):c.1537+1G>A rs189125299 0.00019
NM_006073.4(TRDN):c.992-28G>T rs192872743 0.00019
NM_006073.4(TRDN):c.1215A>G (p.Glu405=) rs939674538 0.00017
NM_006073.4(TRDN):c.419A>G (p.Lys140Arg) rs200953683 0.00017
NM_006073.4(TRDN):c.1282C>T (p.Arg428Ter) rs202219343 0.00016
NM_006073.4(TRDN):c.85G>A (p.Gly29Arg) rs763469367 0.00016
NM_006073.4(TRDN):c.*19T>G rs375670165 0.00015
NM_006073.4(TRDN):c.239C>T (p.Ser80Phe) rs181287533 0.00015
NM_006073.4(TRDN):c.1627C>A (p.Gln543Lys) rs9398723 0.00013
NM_006073.4(TRDN):c.591A>C (p.Glu197Asp) rs751143632 0.00013
NM_006073.4(TRDN):c.300G>A (p.Thr100=) rs377393927 0.00012
NM_006073.4(TRDN):c.129G>A (p.Thr43=) rs373840513 0.00011
NM_006073.4(TRDN):c.23-19T>G rs370102595 0.00011
NM_006073.4(TRDN):c.365A>G (p.Asp122Gly) rs749353413 0.00011
NM_006073.4(TRDN):c.510A>G (p.Gly170=) rs773658957 0.00011
NM_006073.4(TRDN):c.793+27G>A rs189106156 0.00011
NM_006073.4(TRDN):c.125C>T (p.Thr42Met) rs371627659 0.00010
NM_006073.4(TRDN):c.1951+6C>A rs781510666 0.00010
NM_006073.4(TRDN):c.2093A>G (p.Asn698Ser) rs377368177 0.00010
NM_006073.4(TRDN):c.1808G>C (p.Gly603Ala) rs766406818 0.00009
NM_006073.4(TRDN):c.1951+15C>T rs370036052 0.00009
NM_006073.4(TRDN):c.727A>G (p.Thr243Ala) rs376208769 0.00009
NM_006073.4(TRDN):c.884C>T (p.Pro295Leu) rs201899630 0.00009
NM_006073.4(TRDN):c.932-11G>T rs954424960 0.00009
NM_006073.4(TRDN):c.1137T>G (p.Asp379Glu) rs200706450 0.00008
NM_006073.4(TRDN):c.1576A>C (p.Ile526Leu) rs375091695 0.00008
NM_006073.4(TRDN):c.1952-8C>T rs188767077 0.00008
NM_006073.4(TRDN):c.1063G>T (p.Ala355Ser) rs776657049 0.00007
NM_006073.4(TRDN):c.1187-3C>T rs375421435 0.00007
NM_006073.4(TRDN):c.1673-8T>C rs202183696 0.00007
NM_006073.4(TRDN):c.1801C>G (p.Pro601Ala) rs376214235 0.00007
NM_006073.4(TRDN):c.1831+12C>A rs368167703 0.00007
NM_006073.4(TRDN):c.1832-4C>A rs539547575 0.00007
NM_006073.4(TRDN):c.728C>T (p.Thr243Ile) rs769684583 0.00007
NM_006073.4(TRDN):c.1105G>A (p.Ala369Thr) rs369198088 0.00006
NM_006073.4(TRDN):c.1106-8T>C rs575469218 0.00006
NM_006073.4(TRDN):c.1832-15T>C rs904511303 0.00006
NM_006073.4(TRDN):c.1975+8C>T rs754046696 0.00006
NM_006073.4(TRDN):c.2084A>T (p.Asp695Val) rs202040879 0.00006
NM_006073.4(TRDN):c.550G>T (p.Ala184Ser) rs576028226 0.00006
NM_006073.4(TRDN):c.610+42A>T rs79920476 0.00006
NM_006073.4(TRDN):c.613C>T (p.Gln205Ter) rs397515458 0.00006
NM_006073.4(TRDN):c.797A>G (p.Gln266Arg) rs200068375 0.00006
NM_006073.4(TRDN):c.1276A>C (p.Thr426Pro) rs1040336692 0.00005
NM_006073.4(TRDN):c.1361T>C (p.Val454Ala) rs745960330 0.00005
NM_006073.4(TRDN):c.1471+5T>C rs374426512 0.00005
NM_006073.4(TRDN):c.1537+17C>T rs369584691 0.00005
NM_006073.4(TRDN):c.1864A>G (p.Ser622Gly) rs577376276 0.00005
NM_006073.4(TRDN):c.224A>T (p.Asn75Ile) rs368939536 0.00005
NM_006073.4(TRDN):c.484+6C>G rs115773202 0.00005
NM_006073.4(TRDN):c.52G>C (p.Asp18His) rs372554839 0.00005
NM_006073.4(TRDN):c.94C>T (p.Leu32=) rs755548582 0.00005
NM_006073.4(TRDN):c.1011G>A (p.Lys337=) rs886039062 0.00004
NM_006073.4(TRDN):c.1035T>C (p.Ile345=) rs376370234 0.00004
NM_006073.4(TRDN):c.1136-1G>A rs769776218 0.00004
NM_006073.4(TRDN):c.1156C>A (p.Pro386Thr) rs555383967 0.00004
NM_006073.4(TRDN):c.1219+4A>G rs189551080 0.00004
NM_006073.4(TRDN):c.1322-10T>A rs764565579 0.00004
NM_006073.4(TRDN):c.1420+20A>G rs1274691409 0.00004
NM_006073.4(TRDN):c.1568-4T>A rs764779610 0.00004
NM_006073.4(TRDN):c.1589C>G (p.Ala530Gly) rs367716594 0.00004
NM_006073.4(TRDN):c.1598-6T>G rs554635684 0.00004
NM_006073.4(TRDN):c.1683T>C (p.Val561=) rs777229118 0.00004
NM_006073.4(TRDN):c.1932A>G (p.Gln644=) rs976397587 0.00004
NM_006073.4(TRDN):c.1967G>A (p.Arg656Lys) rs1028703114 0.00004
NM_006073.4(TRDN):c.2131C>T (p.Arg711Cys) rs373408498 0.00004
NM_006073.4(TRDN):c.2132G>A (p.Arg711His) rs763375903 0.00004
NM_006073.4(TRDN):c.2135C>T (p.Pro712Leu) rs761888858 0.00004
NM_006073.4(TRDN):c.2138G>A (p.Gly713Glu) rs536487170 0.00004
NM_006073.4(TRDN):c.2179C>T (p.Gln727Ter) rs201041981 0.00004
NM_006073.4(TRDN):c.348T>G (p.Ser116=) rs746361154 0.00004
NM_006073.4(TRDN):c.352G>T (p.Asp118Tyr) rs762075230 0.00004
NM_006073.4(TRDN):c.376G>A (p.Glu126Lys) rs539743603 0.00004
NM_006073.4(TRDN):c.540T>C (p.Pro180=) rs765743451 0.00004
NM_006073.4(TRDN):c.575A>C (p.Lys192Thr) rs777796676 0.00004
NM_006073.4(TRDN):c.825C>T (p.Asp275=) rs375079402 0.00004
NM_006073.4(TRDN):c.991G>A (p.Glu331Lys) rs763851599 0.00004
NM_006073.4(TRDN):c.1019A>G (p.Glu340Gly) rs745751151 0.00003
NM_006073.4(TRDN):c.1186+13A>T rs374832854 0.00003
NM_006073.4(TRDN):c.126G>A (p.Thr42=) rs774324909 0.00003
NM_006073.4(TRDN):c.1273+16T>C rs1055067085 0.00003
NM_006073.4(TRDN):c.1321+15A>G rs373855431 0.00003
NM_006073.4(TRDN):c.1369+9A>G rs373926690 0.00003
NM_006073.4(TRDN):c.1420+1G>T rs1375657667 0.00003
NM_006073.4(TRDN):c.1420+7G>A rs1468907376 0.00003
NM_006073.4(TRDN):c.1421-20T>C rs1018226745 0.00003
NM_006073.4(TRDN):c.1601T>G (p.Ile534Arg) rs926868398 0.00003
NM_006073.4(TRDN):c.1651A>G (p.Thr551Ala) rs1304157111 0.00003
NM_006073.4(TRDN):c.1672+8G>T rs372811049 0.00003
NM_006073.4(TRDN):c.1708A>G (p.Ile570Val) rs915231524 0.00003
NM_006073.4(TRDN):c.1733C>A (p.Pro578Gln) rs761240477 0.00003
NM_006073.4(TRDN):c.1754G>A (p.Arg585Gln) rs199986608 0.00003
NM_006073.4(TRDN):c.1783G>A (p.Asp595Asn) rs771170294 0.00003
NM_006073.4(TRDN):c.196G>T (p.Val66Phe) rs372169818 0.00003
NM_006073.4(TRDN):c.1980T>C (p.Asp660=) rs1219746479 0.00003
NM_006073.4(TRDN):c.2050+16G>A rs543899749 0.00003
NM_006073.4(TRDN):c.2073T>C (p.Cys691=) rs776628762 0.00003
NM_006073.4(TRDN):c.2143A>G (p.Ser715Gly) rs768748530 0.00003
NM_006073.4(TRDN):c.22+29A>G rs774068079 0.00003
NM_006073.4(TRDN):c.22+8T>C rs754212646 0.00003
NM_006073.4(TRDN):c.25A>G (p.Asn9Asp) rs768303943 0.00003
NM_006073.4(TRDN):c.32C>T (p.Ser11Phe) rs760549842 0.00003
NM_006073.4(TRDN):c.46G>C (p.Val16Leu) rs974343553 0.00003
NM_006073.4(TRDN):c.592A>G (p.Thr198Ala) rs952211002 0.00003
NM_006073.4(TRDN):c.610+20T>G rs1236681855 0.00003
NM_006073.4(TRDN):c.611-10C>T rs908084983 0.00003
NM_006073.4(TRDN):c.611-14T>A rs181140338 0.00003
NM_006073.4(TRDN):c.931+19C>T rs1319851680 0.00003
NM_006073.4(TRDN):c.1043A>G (p.Glu348Gly) rs755708624 0.00002
NM_006073.4(TRDN):c.1098A>C (p.Ala366=) rs1425417640 0.00002
NM_006073.4(TRDN):c.110C>T (p.Thr37Ile) rs1289581577 0.00002
NM_006073.4(TRDN):c.117C>T (p.Asp39=) rs750571542 0.00002
NM_006073.4(TRDN):c.1186+11G>T rs1476535612 0.00002
NM_006073.4(TRDN):c.1220-3C>T rs773907258 0.00002
NM_006073.4(TRDN):c.127A>G (p.Thr43Ala) rs367564871 0.00002
NM_006073.4(TRDN):c.1547G>C (p.Gly516Ala) rs145032876 0.00002
NM_006073.4(TRDN):c.1567G>C (p.Glu523Gln) rs1319380436 0.00002
NM_006073.4(TRDN):c.1582A>G (p.Lys528Glu) rs774550097 0.00002
NM_006073.4(TRDN):c.1625-17C>A rs543749199 0.00002
NM_006073.4(TRDN):c.1671A>G (p.Pro557=) rs935484433 0.00002
NM_006073.4(TRDN):c.1776A>C (p.Ile592=) rs367716265 0.00002
NM_006073.4(TRDN):c.1871-6A>G rs185268405 0.00002
NM_006073.4(TRDN):c.1934T>G (p.Leu645Ter) rs747836980 0.00002
NM_006073.4(TRDN):c.1951+16G>A rs377046739 0.00002
NM_006073.4(TRDN):c.1975+5G>T rs899940538 0.00002
NM_006073.4(TRDN):c.1976-6C>G rs368752139 0.00002
NM_006073.4(TRDN):c.1990G>A (p.Val664Ile) rs756257644 0.00002
NM_006073.4(TRDN):c.2110T>A (p.Phe704Ile) rs780892167 0.00002
NM_006073.4(TRDN):c.2164C>G (p.Pro722Ala) rs774449661 0.00002
NM_006073.4(TRDN):c.2182G>A (p.Gly728Arg) rs777497275 0.00002
NM_006073.4(TRDN):c.2185C>T (p.Gln729Ter) rs769741426 0.00002
NM_006073.4(TRDN):c.439A>G (p.Lys147Glu) rs554795197 0.00002
NM_006073.4(TRDN):c.484+7del rs764922806 0.00002
NM_006073.4(TRDN):c.485-7T>C rs921833812 0.00002
NM_006073.4(TRDN):c.551-4T>C rs1413167708 0.00002
NM_006073.4(TRDN):c.605C>T (p.Ala202Val) rs765653366 0.00002
NM_006073.4(TRDN):c.863C>T (p.Pro288Leu) rs1408332939 0.00002
NM_006073.4(TRDN):c.931+10T>A rs754118635 0.00002
NM_006073.4(TRDN):c.992-12T>C rs1184620677 0.00002
NM_006073.4(TRDN):c.1018G>A (p.Glu340Lys) rs778821180 0.00001
NM_006073.4(TRDN):c.1051+7C>A rs767743181 0.00001
NM_006073.4(TRDN):c.1052-9del rs1404718387 0.00001
NM_006073.4(TRDN):c.1060A>G (p.Lys354Glu) rs761972576 0.00001
NM_006073.4(TRDN):c.1083G>C (p.Gly361=) rs878854815 0.00001
NM_006073.4(TRDN):c.1101A>G (p.Ala367=) rs1186052488 0.00001
NM_006073.4(TRDN):c.1106-16A>G rs1195466991 0.00001
NM_006073.4(TRDN):c.1106-1G>T rs969164356 0.00001
NM_006073.4(TRDN):c.1108G>A (p.Ala370Thr) rs1781990629 0.00001
NM_006073.4(TRDN):c.1115A>G (p.Lys372Arg) rs1259355217 0.00001
NM_006073.4(TRDN):c.1130A>G (p.Lys377Arg) rs750876367 0.00001
NM_006073.4(TRDN):c.1135+10A>T rs765785141 0.00001
NM_006073.4(TRDN):c.1136-14C>T rs1781747541 0.00001
NM_006073.4(TRDN):c.1136-19T>C rs1454829896 0.00001
NM_006073.4(TRDN):c.1136-7T>C rs1060504472 0.00001
NM_006073.4(TRDN):c.1148C>T (p.Thr383Ile) rs780744224 0.00001
NM_006073.4(TRDN):c.1165G>T (p.Val389Leu) rs768208179 0.00001
NM_006073.4(TRDN):c.1206A>T (p.Lys402Asn) rs745563456 0.00001
NM_006073.4(TRDN):c.1219+8T>A rs749762696 0.00001
NM_006073.4(TRDN):c.1220-19T>G rs1278216509 0.00001
NM_006073.4(TRDN):c.1222A>G (p.Lys408Glu) rs771278361 0.00001
NM_006073.4(TRDN):c.1249C>G (p.Pro417Ala) rs773700571 0.00001
NM_006073.4(TRDN):c.1273+4T>C rs1261345499 0.00001
NM_006073.4(TRDN):c.1274-6T>A rs1034356533 0.00001
NM_006073.4(TRDN):c.1283G>A (p.Arg428Gln) rs371336992 0.00001
NM_006073.4(TRDN):c.1286C>A (p.Ala429Asp) rs1297242196 0.00001
NM_006073.4(TRDN):c.128C>T (p.Thr43Met) rs748832633 0.00001
NM_006073.4(TRDN):c.1305G>A (p.Ala435=) rs1170118704 0.00001
NM_006073.4(TRDN):c.1321+1G>A rs775407481 0.00001
NM_006073.4(TRDN):c.1321+2T>C rs772232730 0.00001
NM_006073.4(TRDN):c.1322-2A>C rs1351171945 0.00001
NM_006073.4(TRDN):c.134G>T (p.Ser45Ile) rs748395950 0.00001
NM_006073.4(TRDN):c.1383A>G (p.Glu461=) rs1279027887 0.00001
NM_006073.4(TRDN):c.1393A>G (p.Lys465Glu) rs1779922492 0.00001
NM_006073.4(TRDN):c.1395G>C (p.Lys465Asn) rs1323480717 0.00001
NM_006073.4(TRDN):c.1420+2T>C rs1197905831 0.00001
NM_006073.4(TRDN):c.1421-15G>A rs561559208 0.00001
NM_006073.4(TRDN):c.1471+11A>G rs1562265333 0.00001
NM_006073.4(TRDN):c.1471+7T>G rs766394390 0.00001
NM_006073.4(TRDN):c.1475C>T (p.Pro492Leu) rs1431462819 0.00001
NM_006073.4(TRDN):c.1487A>T (p.Lys496Ile) rs1219920478 0.00001
NM_006073.4(TRDN):c.1501T>A (p.Ser501Thr) rs370559465 0.00001
NM_006073.4(TRDN):c.1510+10T>C rs762076675 0.00001
NM_006073.4(TRDN):c.1524G>A (p.Lys508=) rs373408793 0.00001
NM_006073.4(TRDN):c.1533T>C (p.Pro511=) rs1216108172 0.00001
NM_006073.4(TRDN):c.1537+5G>A rs1418472166 0.00001
NM_006073.4(TRDN):c.1537C>A (p.Gln513Lys) rs757355311 0.00001
NM_006073.4(TRDN):c.1563G>A (p.Lys521=) rs573190326 0.00001
NM_006073.4(TRDN):c.1567+18A>G rs1323353333 0.00001
NM_006073.4(TRDN):c.1567+2T>C rs1384476992 0.00001
NM_006073.4(TRDN):c.1569G>T (p.Glu523Asp) rs1395279008 0.00001
NM_006073.4(TRDN):c.1593A>G (p.Lys531=) rs769926882 0.00001
NM_006073.4(TRDN):c.1597+10G>T rs150165710 0.00001
NM_006073.4(TRDN):c.1597+20A>G rs1334825625 0.00001
NM_006073.4(TRDN):c.1614G>A (p.Val538=) rs566498843 0.00001
NM_006073.4(TRDN):c.1622A>G (p.His541Arg) rs919195476 0.00001
NM_006073.4(TRDN):c.1624+3A>G rs917121544 0.00001
NM_006073.4(TRDN):c.1625-8A>G rs776538507 0.00001
NM_006073.4(TRDN):c.1631A>T (p.Asp544Val) rs1417883411 0.00001
NM_006073.4(TRDN):c.1660C>G (p.His554Asp) rs749072053 0.00001
NM_006073.4(TRDN):c.1673-3C>G rs762200112 0.00001
NM_006073.4(TRDN):c.1682T>A (p.Val561Asp) rs947096255 0.00001
NM_006073.4(TRDN):c.1690C>G (p.Gln564Glu) rs892905883 0.00001
NM_006073.4(TRDN):c.1695A>G (p.Val565=) rs1480745340 0.00001
NM_006073.4(TRDN):c.1738+8A>G rs368262681 0.00001
NM_006073.4(TRDN):c.1765C>A (p.Pro589Thr) rs374035597 0.00001
NM_006073.4(TRDN):c.1766C>A (p.Pro589His) rs371717903 0.00001
NM_006073.4(TRDN):c.176C>T (p.Thr59Met) rs397515459 0.00001
NM_006073.4(TRDN):c.17C>T (p.Ala6Val) rs764897557 0.00001
NM_006073.4(TRDN):c.1805-2A>G rs1417676099 0.00001
NM_006073.4(TRDN):c.1819G>C (p.Val607Leu) rs775485689 0.00001
NM_006073.4(TRDN):c.1853C>T (p.Ser618Phe) rs1270608603 0.00001
NM_006073.4(TRDN):c.1870+5A>T rs1041234944 0.00001
NM_006073.4(TRDN):c.1879G>C (p.Asp627His) rs997711349 0.00001
NM_006073.4(TRDN):c.1904A>G (p.Lys635Arg) rs1179112140 0.00001
NM_006073.4(TRDN):c.1952-10C>A rs375983814 0.00001
NM_006073.4(TRDN):c.1952-5T>C rs780537847 0.00001
NM_006073.4(TRDN):c.1952-6T>A rs1452400104 0.00001
NM_006073.4(TRDN):c.1954G>A (p.Glu652Lys) rs1194412303 0.00001
NM_006073.4(TRDN):c.1962T>G (p.Pro654=) rs1021493361 0.00001
NM_006073.4(TRDN):c.1976-3T>C rs934486291 0.00001
NM_006073.4(TRDN):c.2007A>G (p.Lys669=) rs758215926 0.00001
NM_006073.4(TRDN):c.2015-9A>G rs774914841 0.00001
NM_006073.4(TRDN):c.2027A>G (p.Asp676Gly) rs1775147117 0.00001
NM_006073.4(TRDN):c.2050+9A>G rs778722280 0.00001
NM_006073.4(TRDN):c.2051-6C>T rs773799664 0.00001
NM_006073.4(TRDN):c.2060G>A (p.Ser687Asn) rs1188001301 0.00001
NM_006073.4(TRDN):c.2074G>A (p.Val692Ile) rs1208049678 0.00001
NM_006073.4(TRDN):c.2087G>A (p.Gly696Glu) rs770748006 0.00001
NM_006073.4(TRDN):c.2091C>T (p.Tyr697=) rs749118163 0.00001
NM_006073.4(TRDN):c.2092A>C (p.Asn698His) rs777779916 0.00001
NM_006073.4(TRDN):c.2122C>T (p.Pro708Ser) rs751278695 0.00001
NM_006073.4(TRDN):c.2176C>T (p.Gln726Ter) rs1414689230 0.00001
NM_006073.4(TRDN):c.22+18C>T rs549609889 0.00001
NM_006073.4(TRDN):c.22+4T>C rs757565507 0.00001
NM_006073.4(TRDN):c.232+15A>T rs769101414 0.00001
NM_006073.4(TRDN):c.232+6T>G rs747825904 0.00001
NM_006073.4(TRDN):c.232+8C>A rs371069080 0.00001
NM_006073.4(TRDN):c.284C>T (p.Ala95Val) rs764770921 0.00001
NM_006073.4(TRDN):c.310T>A (p.Tyr104Asn) rs566714157 0.00001
NM_006073.4(TRDN):c.311A>G (p.Tyr104Cys) rs1345111830 0.00001
NM_006073.4(TRDN):c.335A>T (p.Asp112Val) rs772376488 0.00001
NM_006073.4(TRDN):c.360A>T (p.Glu120Asp) rs1433101332 0.00001
NM_006073.4(TRDN):c.371G>A (p.Gly124Asp) rs1781225730 0.00001
NM_006073.4(TRDN):c.398T>C (p.Ile133Thr) rs1218113277 0.00001
NM_006073.4(TRDN):c.437A>G (p.Asp146Gly) rs1449421617 0.00001
NM_006073.4(TRDN):c.463G>A (p.Glu155Lys) rs1386718060 0.00001
NM_006073.4(TRDN):c.480T>G (p.Thr160=) rs1020844292 0.00001
NM_006073.4(TRDN):c.482A>C (p.Lys161Thr) rs886039003 0.00001
NM_006073.4(TRDN):c.482A>G (p.Lys161Arg) rs886039003 0.00001
NM_006073.4(TRDN):c.485-13T>C rs886061034 0.00001
NM_006073.4(TRDN):c.502G>A (p.Glu168Lys) rs545032318 0.00001
NM_006073.4(TRDN):c.527A>T (p.Glu176Val) rs1174526334 0.00001
NM_006073.4(TRDN):c.529A>T (p.Lys177Ter) rs1468290898 0.00001
NM_006073.4(TRDN):c.541G>T (p.Glu181Ter) rs1198103383 0.00001
NM_006073.4(TRDN):c.558C>A (p.His186Gln) rs1173699706 0.00001
NM_006073.4(TRDN):c.576A>G (p.Lys192=) rs756125825 0.00001
NM_006073.4(TRDN):c.604G>A (p.Ala202Thr) rs1335196025 0.00001
NM_006073.4(TRDN):c.606G>A (p.Ala202=) rs1410476969 0.00001
NM_006073.4(TRDN):c.610+19A>G rs1482036297 0.00001
NM_006073.4(TRDN):c.630T>A (p.Thr210=) rs983727872 0.00001
NM_006073.4(TRDN):c.652A>C (p.Thr218Pro) rs1778805040 0.00001
NM_006073.4(TRDN):c.665T>G (p.Val222Gly) rs758037868 0.00001
NM_006073.4(TRDN):c.754G>T (p.Asp252Tyr) rs749401047 0.00001
NM_006073.4(TRDN):c.755A>G (p.Asp252Gly) rs969285752 0.00001
NM_006073.4(TRDN):c.762G>C (p.Glu254Asp) rs746983339 0.00001
NM_006073.4(TRDN):c.804A>G (p.Ala268=) rs748948862 0.00001
NM_006073.4(TRDN):c.811C>T (p.Arg271Ter) rs1201954479 0.00001
NM_006073.4(TRDN):c.812G>A (p.Arg271Gln) rs772783444 0.00001
NM_006073.4(TRDN):c.826A>G (p.Ile276Val) rs150412658 0.00001
NM_006073.4(TRDN):c.851C>G (p.Pro284Arg) rs755534468 0.00001
NM_006073.4(TRDN):c.853+3A>G rs372783263 0.00001
NM_006073.4(TRDN):c.853+6C>A rs1331217957 0.00001
NM_006073.4(TRDN):c.854-7T>C rs762404582 0.00001
NM_006073.4(TRDN):c.885G>A (p.Pro295=) rs769189541 0.00001
NM_006073.4(TRDN):c.894A>G (p.Gln298=) rs1489564658 0.00001
NM_006073.4(TRDN):c.902G>A (p.Arg301Lys) rs780453421 0.00001
NM_006073.4(TRDN):c.911C>T (p.Pro304Leu) rs750105528 0.00001
NM_006073.4(TRDN):c.931+14T>C rs1776694685 0.00001
NM_006073.4(TRDN):c.931+6T>C rs913713029 0.00001
NM_006073.4(TRDN):c.947A>G (p.Lys316Arg) rs1200632068 0.00001
NM_006073.4(TRDN):c.949A>G (p.Lys317Glu) rs138624936 0.00001
NM_006073.4(TRDN):c.990A>G (p.Lys330=) rs941068115 0.00001
NM_006073.4(TRDN):c.991+10T>G rs1451400888 0.00001
NM_006073.4(TRDN):c.991+11T>G rs1245038855 0.00001
NM_006073.4(TRDN):c.991+3A>G rs961504074 0.00001
GRCh37/hg19 6q22.31(chr6:123424461-123826573)x3
GRCh37/hg19 6q22.31(chr6:123551934-123597121)x1
GRCh37/hg19 6q22.31(chr6:123556891-123753606)x3
GRCh37/hg19 6q22.31(chr6:123560579-123592852)x3
GRCh37/hg19 6q22.31(chr6:123560579-123669127)x3
GRCh37/hg19 6q22.31(chr6:123592333-123593044)x3
GRCh37/hg19 6q22.31(chr6:123592333-123593097)x3
GRCh37/hg19 6q22.31(chr6:123668347-123897071)x3
GRCh37/hg19 6q22.31(chr6:123786927-124034213)x1
GRCh37/hg19 6q22.31(chr6:123815422-123951153)x1
GRCh37/hg19 6q22.31(chr6:123867333-124002494)
NC_000006.11:g.(?_123536484)_(123959238_?)dup
NC_000006.11:g.(?_123539737)_(123957930_?)dup
NC_000006.11:g.(?_123539746)_(123833527_?)del
NC_000006.11:g.(?_123539746)_(123957920_?)del
NC_000006.11:g.(?_123539746)_(123957920_?)dup
NC_000006.11:g.(?_123573537)_(123573600_?)del
NC_000006.11:g.(?_123573537)_(123595835_?)del
NC_000006.11:g.(?_123580749)_(123595835_?)dup
NC_000006.11:g.(?_123581598)_(123581802_?)del
NC_000006.11:g.(?_123581737)_(123581803_?)del
NC_000006.11:g.(?_123581747)_(123581793_?)del
NC_000006.11:g.(?_123586443)_(123588916_?)dup
NC_000006.11:g.(?_123637582)_(123673751_?)dup
NC_000006.11:g.(?_123637592)_(123637650_?)del
NC_000006.11:g.(?_123658744)_(123760168_?)dup
NC_000006.11:g.(?_123687260)_(123687347_?)del
NC_000006.11:g.(?_123703243)_(123703312_?)del
NC_000006.11:g.(?_123714759)_(123786138_?)dup
NC_000006.11:g.(?_123759188)_(123760168_?)del
NC_000006.11:g.(?_123786031)_(123786148_?)del
NC_000006.11:g.(?_123786031)_(123786148_?)dup
NC_000006.11:g.(?_123818318)_(123825066_?)del
NC_000006.11:g.(?_123818328)_(123825056_?)del
NC_000006.11:g.(?_123833428)_(123837371_?)del
NC_000006.11:g.(?_123851631)_(123851730_?)del
NC_000006.11:g.(?_123851631)_(123868537_?)del
NC_000006.11:g.(?_123851641)_(123851720_?)del
NC_000006.12:g.(?_123218591)_(123224141_?)del
NC_000006.12:g.(?_123260612)_(123260638_?)del
NC_000006.12:g.(?_123337609)_(123439013_?)dup
NC_000006.12:g.(?_123438043)_(123465003_?)del
NC_000006.12:g.(?_123497183)_(123512372_?)dup
NC_000006.12:g.(?_123547330)_(123548622_?)del
NC_000006.12:g.123503896TCTGT[1]
NM_006073.4(TRDN):c.*1456CA[3] rs764560250
NM_006073.4(TRDN):c.1002T>C (p.Asp334=) rs2114593337
NM_006073.4(TRDN):c.1006A>G (p.Lys336Glu)
NM_006073.4(TRDN):c.1017T>C (p.Ser339=)
NM_006073.4(TRDN):c.1034T>C (p.Ile345Thr) rs1459890032
NM_006073.4(TRDN):c.1042G>C (p.Glu348Gln)
NM_006073.4(TRDN):c.1048A>G (p.Lys350Glu)
NM_006073.4(TRDN):c.1050del (p.Glu351fs) rs753514580
NM_006073.4(TRDN):c.1051+10_1051+11insTGTT
NM_006073.4(TRDN):c.1051+13_1051+16del rs779871731
NM_006073.4(TRDN):c.1051+14T>G rs2114593071
NM_006073.4(TRDN):c.1051+18T>C
NM_006073.4(TRDN):c.1051+1G>A rs535908547
NM_006073.4(TRDN):c.1051+1G>T rs535908547
NM_006073.4(TRDN):c.1051+20T>C rs1436980557
NM_006073.4(TRDN):c.1051+3A>T rs2114593121
NM_006073.4(TRDN):c.1051+6G>T
NM_006073.4(TRDN):c.1051+7C>T
NM_006073.4(TRDN):c.1051+8A>T
NM_006073.4(TRDN):c.1051+9C>T
NM_006073.4(TRDN):c.1052-10dup
NM_006073.4(TRDN):c.1052-15T>C
NM_006073.4(TRDN):c.1052-16T>A rs2114461669
NM_006073.4(TRDN):c.1052-18T>A
NM_006073.4(TRDN):c.1052-18T>C
NM_006073.4(TRDN):c.1052-19_1052-18del rs2114461686
NM_006073.4(TRDN):c.1052-1G>C
NM_006073.4(TRDN):c.1052-5C>G
NM_006073.4(TRDN):c.1052-9C>A rs765883002
NM_006073.4(TRDN):c.1052-9C>T rs765883002
NM_006073.4(TRDN):c.1055C>A (p.Pro352Gln) rs754708708
NM_006073.4(TRDN):c.1055C>T (p.Pro352Leu) rs754708708
NM_006073.4(TRDN):c.1056G>A (p.Pro352=)
NM_006073.4(TRDN):c.1056G>T (p.Pro352=) rs558713666
NM_006073.4(TRDN):c.1058G>A (p.Gly353Glu) rs1230466120
NM_006073.4(TRDN):c.1084A>G (p.Thr362Ala)
NM_006073.4(TRDN):c.1087G>A (p.Val363Ile)
NM_006073.4(TRDN):c.1098_1099inv (p.Ala367Ser)
NM_006073.4(TRDN):c.1099G>T (p.Ala367Ser)
NM_006073.4(TRDN):c.109A>T (p.Thr37Ser) rs1554258810
NM_006073.4(TRDN):c.1105+112G>A rs73771941
NM_006073.4(TRDN):c.1105+13del
NM_006073.4(TRDN):c.1105+1del rs1772598763
NM_006073.4(TRDN):c.1105G>T (p.Ala369Ser) rs369198088
NM_006073.4(TRDN):c.1106-19G>A rs754623877
NM_006073.4(TRDN):c.1106-19G>T rs754623877
NM_006073.4(TRDN):c.1106-20C>T
NM_006073.4(TRDN):c.1106-5T>C
NM_006073.4(TRDN):c.1131G>A (p.Lys377=) rs1370845470
NM_006073.4(TRDN):c.1132G>A (p.Glu378Lys) rs1330602239
NM_006073.4(TRDN):c.1133A>G (p.Glu378Gly) rs2114443570
NM_006073.4(TRDN):c.1135+17dup
NM_006073.4(TRDN):c.1135+1G>A
NM_006073.4(TRDN):c.1136-2A>G
NM_006073.4(TRDN):c.1136-2_1136-1delinsTA
NM_006073.4(TRDN):c.1141A>G (p.Lys381Glu)
NM_006073.4(TRDN):c.1144A>G (p.Lys382Glu) rs1781747004
NM_006073.4(TRDN):c.1150A>G (p.Lys384Glu) rs1159691201
NM_006073.4(TRDN):c.1157C>A (p.Pro386His)
NM_006073.4(TRDN):c.1165+130AG[15] rs55997261
NM_006073.4(TRDN):c.1165+130AG[17] rs55997261
NM_006073.4(TRDN):c.1165+130AG[18] rs55997261
NM_006073.4(TRDN):c.1165+130AG[19] rs55997261
NM_006073.4(TRDN):c.1165+130AG[21] rs55997261
NM_006073.4(TRDN):c.1166-1G>A rs1298986609
NM_006073.4(TRDN):c.1166-2A>C
NM_006073.4(TRDN):c.116A>T (p.Asp39Val)
NM_006073.4(TRDN):c.1175C>T (p.Pro392Leu) rs1364039811
NM_006073.4(TRDN):c.1186+12C>T
NM_006073.4(TRDN):c.1186+13A>G
NM_006073.4(TRDN):c.1187-13T>C
NM_006073.4(TRDN):c.1187-15A>G
NM_006073.4(TRDN):c.1187-19C>G
NM_006073.4(TRDN):c.1187-2A>G rs578024729
NM_006073.4(TRDN):c.1188A>C (p.Lys396Asn) rs6901953
NM_006073.4(TRDN):c.1197G>T (p.Lys399Asn)
NM_006073.4(TRDN):c.119T>C (p.Ile40Thr)
NM_006073.4(TRDN):c.1201G>A (p.Glu401Lys)
NM_006073.4(TRDN):c.1208A>C (p.His403Pro)
NM_006073.4(TRDN):c.1209T>C (p.His403=)
NM_006073.4(TRDN):c.120A>G (p.Ile40Met)
NM_006073.4(TRDN):c.1218A>T (p.Pro406=)
NM_006073.4(TRDN):c.1219+7_1219+8del rs2114402886
NM_006073.4(TRDN):c.1220-12T>C
NM_006073.4(TRDN):c.1220-17T>C
NM_006073.4(TRDN):c.1220-19del
NM_006073.4(TRDN):c.1220-19dup rs750105897
NM_006073.4(TRDN):c.1220-20_1220-19del
NM_006073.4(TRDN):c.1223A>C (p.Lys408Thr) rs2114402336
NM_006073.4(TRDN):c.1229C>A (p.Pro410Gln)
NM_006073.4(TRDN):c.1233G>A (p.Lys411=)
NM_006073.4(TRDN):c.1233_1234dup (p.Lys412fs) rs778198100
NM_006073.4(TRDN):c.123G>A (p.Val41=) rs546801443
NM_006073.4(TRDN):c.1246+10A>G rs377411184
NM_006073.4(TRDN):c.1246+15T>C
NM_006073.4(TRDN):c.1246+317C>T rs9401666
NM_006073.4(TRDN):c.1247-19T>G
NM_006073.4(TRDN):c.1247-20T>C
NM_006073.4(TRDN):c.1247-8A>G
NM_006073.4(TRDN):c.1248T>C (p.Val416=)
NM_006073.4(TRDN):c.1257C>G (p.Asp419Glu) rs17737379
NM_006073.4(TRDN):c.1259A>G (p.Lys420Arg)
NM_006073.4(TRDN):c.126G>T (p.Thr42=) rs774324909
NM_006073.4(TRDN):c.1273+16T>G
NM_006073.4(TRDN):c.1273+1G>A rs2114394892
NM_006073.4(TRDN):c.1273+5G>A
NM_006073.4(TRDN):c.1273+7T>G rs1324451489
NM_006073.4(TRDN):c.1273+8G>T rs1781473593
NM_006073.4(TRDN):c.1274-8A>G
NM_006073.4(TRDN):c.1276A>G (p.Thr426Ala) rs1040336692
NM_006073.4(TRDN):c.1278T>C (p.Thr426=)
NM_006073.4(TRDN):c.1279G>C (p.Glu427Gln)
NM_006073.4(TRDN):c.1282C>G (p.Arg428Gly) rs202219343
NM_006073.4(TRDN):c.1292_1293del (p.Glu431fs) rs1582923790
NM_006073.4(TRDN):c.1296G>T (p.Glu432Asp)
NM_006073.4(TRDN):c.1298T>C (p.Ile433Thr)
NM_006073.4(TRDN):c.1299T>C (p.Ile433=) rs1443094358
NM_006073.4(TRDN):c.1300_1308del (p.Gly434_Val436del) rs765757457
NM_006073.4(TRDN):c.1301G>C (p.Gly434Ala) rs2114357967
NM_006073.4(TRDN):c.1304C>A (p.Ala435Glu) rs370712881
NM_006073.4(TRDN):c.1304C>T (p.Ala435Val) rs370712881
NM_006073.4(TRDN):c.1313T>A (p.Ile438Asn) rs2873479
NM_006073.4(TRDN):c.1313T>G (p.Ile438Ser) rs2873479
NM_006073.4(TRDN):c.1313_1314delinsGC (p.Ile438Ser) rs1562280050
NM_006073.4(TRDN):c.1321+10G>T
NM_006073.4(TRDN):c.1321+11C>A
NM_006073.4(TRDN):c.1321+11C>G rs920771213
NM_006073.4(TRDN):c.1321+17G>A
NM_006073.4(TRDN):c.1321+17G>T
NM_006073.4(TRDN):c.1321+1G>T
NM_006073.4(TRDN):c.1321+1del rs754982716
NM_006073.4(TRDN):c.1321+9A>G
NM_006073.4(TRDN):c.1321G>A (p.Ala441Thr)
NM_006073.4(TRDN):c.1322-1G>A
NM_006073.4(TRDN):c.1322-21_1322-20del rs753927173
NM_006073.4(TRDN):c.1322-9_1322-6dup
NM_006073.4(TRDN):c.1327C>T (p.Pro443Ser)
NM_006073.4(TRDN):c.1328C>T (p.Pro443Leu) rs2114299923
NM_006073.4(TRDN):c.1329T>C (p.Pro443=) rs2114299916
NM_006073.4(TRDN):c.1332A>C (p.Gly444=)
NM_006073.4(TRDN):c.1332A>G (p.Gly444=)
NM_006073.4(TRDN):c.1334A>G (p.Lys445Arg)
NM_006073.4(TRDN):c.1340A>G (p.Glu447Gly) rs1488176228
NM_006073.4(TRDN):c.1344G>C (p.Glu448Asp)
NM_006073.4(TRDN):c.1362G>A (p.Val454=)
NM_006073.4(TRDN):c.1365G>A (p.Glu455=) rs1452206168
NM_006073.4(TRDN):c.1369+107_1369+109del rs146127438
NM_006073.4(TRDN):c.1369+11A>G
NM_006073.4(TRDN):c.1369+15A>G
NM_006073.4(TRDN):c.1369+2del
NM_006073.4(TRDN):c.1369+3dup rs537388823
NM_006073.4(TRDN):c.1370-11_1370-10delinsAC rs1060502113
NM_006073.4(TRDN):c.1370-15T>A
NM_006073.4(TRDN):c.1370-19C>T
NM_006073.4(TRDN):c.1370-20_1370-8del
NM_006073.4(TRDN):c.1370-2A>G
NM_006073.4(TRDN):c.1370A>G (p.Glu457Gly) rs1275202498
NM_006073.4(TRDN):c.1373T>C (p.Ile458Thr) rs1216864060
NM_006073.4(TRDN):c.1374T>C (p.Ile458=)
NM_006073.4(TRDN):c.1375A>T (p.Arg459Ter) rs1562267979
NM_006073.4(TRDN):c.138C>T (p.Ser46=)
NM_006073.4(TRDN):c.1395G>A (p.Lys465=)
NM_006073.4(TRDN):c.1405A>G (p.Ile469Val)
NM_006073.4(TRDN):c.1410G>A (p.Leu470=) rs768291815
NM_006073.4(TRDN):c.1410G>T (p.Leu470=) rs768291815
NM_006073.4(TRDN):c.1416T>C (p.Asp472=) rs1464407707
NM_006073.4(TRDN):c.1416T>G (p.Asp472Glu) rs1464407707
NM_006073.4(TRDN):c.1420+17A>G
NM_006073.4(TRDN):c.1420+17A>T
NM_006073.4(TRDN):c.1420+18A>C
NM_006073.4(TRDN):c.1420+18A>G
NM_006073.4(TRDN):c.1420+8_1420+9del rs1254777827
NM_006073.4(TRDN):c.1421-14A>G
NM_006073.4(TRDN):c.1421-16C>T
NM_006073.4(TRDN):c.1421-19G>C
NM_006073.4(TRDN):c.1426A>G (p.Ile476Val)
NM_006073.4(TRDN):c.1427T>C (p.Ile476Thr) rs1582882357
NM_006073.4(TRDN):c.1431A>G (p.Lys477=)
NM_006073.4(TRDN):c.143C>A (p.Ala48Glu)
NM_006073.4(TRDN):c.1443G>C (p.Glu481Asp) rs2114727152
NM_006073.4(TRDN):c.1454C>T (p.Ala485Val) rs1001289198
NM_006073.4(TRDN):c.1457C>T (p.Ser486Phe)
NM_006073.4(TRDN):c.1458C>G (p.Ser486=) rs1365899783
NM_006073.4(TRDN):c.145G>C (p.Ala49Pro) rs1583264660
NM_006073.4(TRDN):c.1471+10T>A rs1408593994
NM_006073.4(TRDN):c.1471+10T>C
NM_006073.4(TRDN):c.1471+14A>G
NM_006073.4(TRDN):c.1471+15T>C
NM_006073.4(TRDN):c.1471+1G>A
NM_006073.4(TRDN):c.1471+8_1471+10del
NM_006073.4(TRDN):c.1471G>C (p.Glu491Gln)
NM_006073.4(TRDN):c.1472-4C>T
NM_006073.4(TRDN):c.1472-5C>T rs2114699560
NM_006073.4(TRDN):c.1474C>T (p.Pro492Ser)
NM_006073.4(TRDN):c.147C>A (p.Ala49=) rs1554258804
NM_006073.4(TRDN):c.1488del (p.Asp497fs)
NM_006073.4(TRDN):c.1492G>T (p.Glu498Ter) rs1779027425
NM_006073.4(TRDN):c.1499T>C (p.Met500Thr) rs1233338907
NM_006073.4(TRDN):c.1503C>T (p.Ser501=)
NM_006073.4(TRDN):c.1510+14G>A
NM_006073.4(TRDN):c.1510+1G>C
NM_006073.4(TRDN):c.1510+5G>A rs1779025821
NM_006073.4(TRDN):c.1511-11C>T
NM_006073.4(TRDN):c.1511-13del rs768721605
NM_006073.4(TRDN):c.1511-13dup
NM_006073.4(TRDN):c.1511-14T>C rs1252673540
NM_006073.4(TRDN):c.1511-20A>G
NM_006073.4(TRDN):c.1511-20A>T rs773044428
NM_006073.4(TRDN):c.1511-9T>C
NM_006073.4(TRDN):c.1512C>T (p.Gly504=)
NM_006073.4(TRDN):c.1526C>G (p.Pro509Arg) rs1060502115
NM_006073.4(TRDN):c.1534C>T (p.Pro512Ser)
NM_006073.4(TRDN):c.1537+100del rs143535631
NM_006073.4(TRDN):c.1537+16G>A
NM_006073.4(TRDN):c.1537+17C>A
NM_006073.4(TRDN):c.1537+18T>A
NM_006073.4(TRDN):c.1537+18_1537+19insTAAA
NM_006073.4(TRDN):c.1537C>T (p.Gln513Ter) rs757355311
NM_006073.4(TRDN):c.1538-12C>G
NM_006073.4(TRDN):c.1538-17T>C
NM_006073.4(TRDN):c.1538-19T>C rs142237914
NM_006073.4(TRDN):c.1538-7T>G rs1777452285
NM_006073.4(TRDN):c.153T>C (p.Leu51=)
NM_006073.4(TRDN):c.1542A>G (p.Leu514=)
NM_006073.4(TRDN):c.1544A>G (p.Gln515Arg)
NM_006073.4(TRDN):c.1545A>C (p.Gln515His) rs1232728917
NM_006073.4(TRDN):c.1549A>G (p.Lys517Glu) rs2114626106
NM_006073.4(TRDN):c.1554G>A (p.Lys518=)
NM_006073.4(TRDN):c.1558G>T (p.Glu520Ter)
NM_006073.4(TRDN):c.155T>A (p.Leu52Gln) rs1554258798
NM_006073.4(TRDN):c.1560G>A (p.Glu520=)
NM_006073.4(TRDN):c.1566A>G (p.Pro522=) rs2114626088
NM_006073.4(TRDN):c.1567+10T>A rs2114626071
NM_006073.4(TRDN):c.1567+123dup rs140706039
NM_006073.4(TRDN):c.1567+16T>G
NM_006073.4(TRDN):c.1567+19_1567+20del
NM_006073.4(TRDN):c.1568-14T>C
NM_006073.4(TRDN):c.1568-15T>C
NM_006073.4(TRDN):c.1568-16C>T
NM_006073.4(TRDN):c.1568-17C>A
NM_006073.4(TRDN):c.1568-18G>A
NM_006073.4(TRDN):c.1568-20del
NM_006073.4(TRDN):c.1568-5C>T
NM_006073.4(TRDN):c.156G>C (p.Leu52=)
NM_006073.4(TRDN):c.156G>T (p.Leu52=)
NM_006073.4(TRDN):c.1576A>G (p.Ile526Val) rs375091695
NM_006073.4(TRDN):c.1577T>G (p.Ile526Ser) rs771612991
NM_006073.4(TRDN):c.1579A>G (p.Lys527Glu) rs1192853066
NM_006073.4(TRDN):c.157G>A (p.Val53Ile)
NM_006073.4(TRDN):c.157G>C (p.Val53Leu)
NM_006073.4(TRDN):c.1580A>G (p.Lys527Arg)
NM_006073.4(TRDN):c.1583A>G (p.Lys528Arg)
NM_006073.4(TRDN):c.1584A>G (p.Lys528=)
NM_006073.4(TRDN):c.1584dup (p.Glu529fs)
NM_006073.4(TRDN):c.1594C>G (p.Pro532Ala)
NM_006073.4(TRDN):c.1597+10G>A rs150165710
NM_006073.4(TRDN):c.1597+11C>T
NM_006073.4(TRDN):c.1597+15A>G
NM_006073.4(TRDN):c.1597+3A>G
NM_006073.4(TRDN):c.1598-12T>C
NM_006073.4(TRDN):c.1598-15ATTT[2]
NM_006073.4(TRDN):c.1598-16T>A
NM_006073.4(TRDN):c.1598-16T>C
NM_006073.4(TRDN):c.1598-18_1598-14del
NM_006073.4(TRDN):c.1598-20A>G
NM_006073.4(TRDN):c.1598-20_1598-19del rs1463323606
NM_006073.4(TRDN):c.1598-23_1598-19del rs1282710403
NM_006073.4(TRDN):c.1598-4_1598-3insTTTAT
NM_006073.4(TRDN):c.1598-6dup rs147062785
NM_006073.4(TRDN):c.159C>A (p.Val53=)
NM_006073.4(TRDN):c.1600A>G (p.Ile534Val) rs1048725851
NM_006073.4(TRDN):c.1600_1602delinsT (p.Ile534fs) rs1777268262
NM_006073.4(TRDN):c.1608A>G (p.Glu536=) rs2114616513
NM_006073.4(TRDN):c.161T>C (p.Ile54Thr) rs1562396418
NM_006073.4(TRDN):c.1623C>T (p.His541=)
NM_006073.4(TRDN):c.1624+1G>A
NM_006073.4(TRDN):c.1624+1G>C rs748011906
NM_006073.4(TRDN):c.1624+20T>C
NM_006073.4(TRDN):c.1624+40C>A rs115489054
NM_006073.4(TRDN):c.1624+6T>A
NM_006073.4(TRDN):c.1624+9T>A
NM_006073.4(TRDN):c.1625-11A>C
NM_006073.4(TRDN):c.1625-3C>A
NM_006073.4(TRDN):c.1626A>G (p.Lys542=)
NM_006073.4(TRDN):c.1628A>G (p.Gln543Arg)
NM_006073.4(TRDN):c.1629A>G (p.Gln543=) rs2114615817
NM_006073.4(TRDN):c.162_178del (p.Ile54fs) rs2114537397
NM_006073.4(TRDN):c.1630G>A (p.Asp544Asn) rs1777254669
NM_006073.4(TRDN):c.1632C>T (p.Asp544=)
NM_006073.4(TRDN):c.1648A>G (p.Lys550Glu) rs1036032456
NM_006073.4(TRDN):c.164C>T (p.Ala55Val) rs1333255264
NM_006073.4(TRDN):c.1650G>A (p.Lys550=)
NM_006073.4(TRDN):c.1661A>C (p.His554Pro) rs1777253805
NM_006073.4(TRDN):c.1661A>G (p.His554Arg)
NM_006073.4(TRDN):c.1667A>G (p.Lys556Arg) rs1554219406
NM_006073.4(TRDN):c.1672+13T>C
NM_006073.4(TRDN):c.1672+3A>G
NM_006073.4(TRDN):c.1672+6T>C
NM_006073.4(TRDN):c.1673-10C>T
NM_006073.4(TRDN):c.167T>C (p.Leu56Pro) rs1060502116
NM_006073.4(TRDN):c.1684C>A (p.Leu562Ile) rs2114612744
NM_006073.4(TRDN):c.168G>A (p.Leu56=) rs1290905998
NM_006073.4(TRDN):c.1690C>A (p.Gln564Lys)
NM_006073.4(TRDN):c.1690C>T (p.Gln564Ter)
NM_006073.4(TRDN):c.1691A>C (p.Gln564Pro) rs768555461
NM_006073.4(TRDN):c.1692G>A (p.Gln564=)
NM_006073.4(TRDN):c.1692G>C (p.Gln564His) rs747107207
NM_006073.4(TRDN):c.1693G>A (p.Val565Ile) rs565178454
NM_006073.4(TRDN):c.1696A>G (p.Lys566Glu)
NM_006073.4(TRDN):c.1700C>A (p.Ala567Asp) rs545470302
NM_006073.4(TRDN):c.1701T>G (p.Ala567=) rs1208419306
NM_006073.4(TRDN):c.1706C>T (p.Thr569Ile)
NM_006073.4(TRDN):c.1717dup (p.Thr573fs)
NM_006073.4(TRDN):c.1720+10G>T rs1582805166
NM_006073.4(TRDN):c.1720+76CA[13] rs35914221
NM_006073.4(TRDN):c.1720+76CA[14] rs35914221
NM_006073.4(TRDN):c.1720+76CA[15] rs35914221
NM_006073.4(TRDN):c.1720+76CA[16] rs35914221
NM_006073.4(TRDN):c.1720+9G>A
NM_006073.4(TRDN):c.1720G>A (p.Ala574Thr) rs866787639
NM_006073.4(TRDN):c.1721-10T>C rs2114610669
NM_006073.4(TRDN):c.1721-11A>G rs1356432525
NM_006073.4(TRDN):c.1721-16C>T
NM_006073.4(TRDN):c.1721-202G>T rs79957114
NM_006073.4(TRDN):c.1721-4A>T rs60743141
NM_006073.4(TRDN):c.1721-6C>T
NM_006073.4(TRDN):c.1728C>A (p.Pro576=)
NM_006073.4(TRDN):c.1729A>G (p.Lys577Glu) rs1554219149
NM_006073.4(TRDN):c.1732C>T (p.Pro578Ser)
NM_006073.4(TRDN):c.1738+10G>A
NM_006073.4(TRDN):c.1738+12A>G
NM_006073.4(TRDN):c.1738+20A>G
NM_006073.4(TRDN):c.1739-15G>T
NM_006073.4(TRDN):c.1739-16T>G
NM_006073.4(TRDN):c.1739-17T>C
NM_006073.4(TRDN):c.1739-6C>T rs1057524282
NM_006073.4(TRDN):c.173T>A (p.Ile58Asn)
NM_006073.4(TRDN):c.1753C>T (p.Arg585Ter) rs754229275
NM_006073.4(TRDN):c.1762G>A (p.Glu588Lys)
NM_006073.4(TRDN):c.1762_1763del (p.Glu588fs)
NM_006073.4(TRDN):c.1768C>T (p.Pro590Ser) rs2114606785
NM_006073.4(TRDN):c.176C>G (p.Thr59Arg) rs397515459
NM_006073.4(TRDN):c.1770A>C (p.Pro590=) rs2114606782
NM_006073.4(TRDN):c.1771T>C (p.Ser591Pro)
NM_006073.4(TRDN):c.1774A>G (p.Ile592Val)
NM_006073.4(TRDN):c.1783+8A>G
NM_006073.4(TRDN):c.1784-10dup rs1776904446
NM_006073.4(TRDN):c.1784-16del rs1181050406
NM_006073.4(TRDN):c.1784-17del rs750605412
NM_006073.4(TRDN):c.1784-17dup
NM_006073.4(TRDN):c.1784-18T>C
NM_006073.4(TRDN):c.1784-7T>C
NM_006073.4(TRDN):c.1784-7T>G
NM_006073.4(TRDN):c.1784-8C>G rs759126653
NM_006073.4(TRDN):c.1784-9C>A
NM_006073.4(TRDN):c.1794A>G (p.Lys598=)
NM_006073.4(TRDN):c.1794del (p.Lys598fs) rs1412913007
NM_006073.4(TRDN):c.1798A>G (p.Thr600Ala)
NM_006073.4(TRDN):c.1804+10C>T
NM_006073.4(TRDN):c.1804+2T>C rs2114598453
NM_006073.4(TRDN):c.1804+6T>C
NM_006073.4(TRDN):c.1804+8T>C
NM_006073.4(TRDN):c.1804A>T (p.Lys602Ter) rs2114598456
NM_006073.4(TRDN):c.1805-19_1805-18insC
NM_006073.4(TRDN):c.1805-21_1805-19dup rs11373802
NM_006073.4(TRDN):c.1805-21_1805-20dup rs11373802
NM_006073.4(TRDN):c.1805-21dup rs11373802
NM_006073.4(TRDN):c.1805-4A>T
NM_006073.4(TRDN):c.1805-6_1805-4del rs2114588768
NM_006073.4(TRDN):c.1805-6_1805-4delinsT rs1776731846
NM_006073.4(TRDN):c.1805-6_1805-4delinsTTT
NM_006073.4(TRDN):c.1805-6del
NM_006073.4(TRDN):c.1805-6dup
NM_006073.4(TRDN):c.1805-7T>C
NM_006073.4(TRDN):c.1806del (p.Gly603fs) rs1381728472
NM_006073.4(TRDN):c.1821del (p.Thr608fs)
NM_006073.4(TRDN):c.1831+17T>A rs953116640
NM_006073.4(TRDN):c.1831+9T>C
NM_006073.4(TRDN):c.1831+9T>G
NM_006073.4(TRDN):c.1832-11C>A
NM_006073.4(TRDN):c.1832-126A>C rs11966668
NM_006073.4(TRDN):c.1832-4C>T
NM_006073.4(TRDN):c.1832-5C>G
NM_006073.4(TRDN):c.1832-5C>T
NM_006073.4(TRDN):c.1845T>C (p.Thr615=)
NM_006073.4(TRDN):c.1857A>G (p.Glu619=)
NM_006073.4(TRDN):c.185C>T (p.Ala62Val)
NM_006073.4(TRDN):c.1861G>T (p.Glu621Ter)
NM_006073.4(TRDN):c.1862A>G (p.Glu621Gly) rs1211286909
NM_006073.4(TRDN):c.1867A>C (p.Lys623Gln) rs781602848
NM_006073.4(TRDN):c.1870+19G>C
NM_006073.4(TRDN):c.1870+19G>T
NM_006073.4(TRDN):c.1871-137C>T rs147951703
NM_006073.4(TRDN):c.1871-20T>C
NM_006073.4(TRDN):c.1871-2A>G rs1483354092
NM_006073.4(TRDN):c.1871-6A>C
NM_006073.4(TRDN):c.1871-9T>A rs1489256531
NM_006073.4(TRDN):c.1874A>C (p.Lys625Thr) rs1776539318
NM_006073.4(TRDN):c.1874A>G (p.Lys625Arg) rs1776539318
NM_006073.4(TRDN):c.1875dup (p.Ala626fs) rs780443277
NM_006073.4(TRDN):c.1881C>G (p.Asp627Glu) rs1776538992
NM_006073.4(TRDN):c.1881C>T (p.Asp627=) rs1776538992
NM_006073.4(TRDN):c.1882A>G (p.Met628Val)
NM_006073.4(TRDN):c.1887G>A (p.Lys629=)
NM_006073.4(TRDN):c.1888C>T (p.His630Tyr)
NM_006073.4(TRDN):c.1894dup (p.Arg632fs)
NM_006073.4(TRDN):c.1897G>A (p.Glu633Lys) rs1776538236
NM_006073.4(TRDN):c.1900_1903del (p.Glu634fs) rs750469686
NM_006073.4(TRDN):c.1906+10del rs1371429325
NM_006073.4(TRDN):c.1906+17A>G
NM_006073.4(TRDN):c.1906+6T>C rs1562232511
NM_006073.4(TRDN):c.1906+6T>G rs1562232511
NM_006073.4(TRDN):c.1906+8T>C
NM_006073.4(TRDN):c.1907-16T>C
NM_006073.4(TRDN):c.1907-29_1907-15del
NM_006073.4(TRDN):c.1907-2A>G
NM_006073.4(TRDN):c.1907-3C>T
NM_006073.4(TRDN):c.1907-3_1907-2del
NM_006073.4(TRDN):c.1907-6T>G
NM_006073.4(TRDN):c.1907-7T>C
NM_006073.4(TRDN):c.1913C>G (p.Thr638Arg) rs1168548735
NM_006073.4(TRDN):c.1916_1918del (p.Arg639del)
NM_006073.4(TRDN):c.1921_1923del (p.Glu641del)
NM_006073.4(TRDN):c.1922A>G (p.Glu641Gly) rs1554217845
NM_006073.4(TRDN):c.1923_1924del (p.Leu643fs) rs781420323
NM_006073.4(TRDN):c.1938C>A (p.His646Gln) rs1582782548
NM_006073.4(TRDN):c.1938C>T (p.His646=)
NM_006073.4(TRDN):c.1951+13T>G rs2114576557
NM_006073.4(TRDN):c.1951+9G>A
NM_006073.4(TRDN):c.1952-15del rs2114570805
NM_006073.4(TRDN):c.1952-1G>A rs2114570771
NM_006073.4(TRDN):c.1952-58del rs201528433
NM_006073.4(TRDN):c.1952-8C>G
NM_006073.4(TRDN):c.1963G>T (p.Ala655Ser)
NM_006073.4(TRDN):c.1964dup (p.Arg656fs) rs751900486
NM_006073.4(TRDN):c.1966A>G (p.Arg656Gly) rs1776405797
NM_006073.4(TRDN):c.196G>A (p.Val66Ile) rs372169818
NM_006073.4(TRDN):c.1971A>G (p.Val657=)
NM_006073.4(TRDN):c.1975+14G>C
NM_006073.4(TRDN):c.1975+1G>C
NM_006073.4(TRDN):c.1975+4del rs763953757
NM_006073.4(TRDN):c.1975+7A>G
NM_006073.4(TRDN):c.1975+8C>A rs754046696
NM_006073.4(TRDN):c.1975+9G>A rs111276785
NM_006073.4(TRDN):c.1976-11C>T
NM_006073.4(TRDN):c.1976-96G>A rs9490705
NM_006073.4(TRDN):c.1984G>T (p.Glu662Ter)
NM_006073.4(TRDN):c.1986A>T (p.Glu662Asp)
NM_006073.4(TRDN):c.1989T>C (p.Asp663=)
NM_006073.4(TRDN):c.1996G>A (p.Ala666Thr) rs748450167
NM_006073.4(TRDN):c.1996G>C (p.Ala666Pro) rs748450167
NM_006073.4(TRDN):c.1997C>A (p.Ala666Asp) rs878854816
NM_006073.4(TRDN):c.19_22+8del
NM_006073.4(TRDN):c.2002A>C (p.Lys668Gln)
NM_006073.4(TRDN):c.200T>C (p.Met67Thr)
NM_006073.4(TRDN):c.2011A>C (p.Lys671Gln) rs2114505384
NM_006073.4(TRDN):c.2014+15T>C rs2114505350
NM_006073.4(TRDN):c.2014+17T>C rs2114505346
NM_006073.4(TRDN):c.2014+20A>G rs2114505323
NM_006073.4(TRDN):c.2014+6T>G rs2114505362
NM_006073.4(TRDN):c.2014+78del rs11368178
NM_006073.4(TRDN):c.2014+9G>T
NM_006073.4(TRDN):c.2014G>A (p.Glu672Lys) rs2114505372
NM_006073.4(TRDN):c.2015-5A>T rs749849851
NM_006073.4(TRDN):c.2015-6C>A rs1244486423
NM_006073.4(TRDN):c.2015-7C>T
NM_006073.4(TRDN):c.2030T>G (p.Val677Gly) rs1775146927
NM_006073.4(TRDN):c.2037C>T (p.Pro679=)
NM_006073.4(TRDN):c.2050+18T>C
NM_006073.4(TRDN):c.2050+1G>A rs1295530677
NM_006073.4(TRDN):c.2050+2T>C rs758127975
NM_006073.4(TRDN):c.2050+2_2050+16delinsATTATT
NM_006073.4(TRDN):c.2051-12T>C
NM_006073.4(TRDN):c.2051-13C>A rs763319003
NM_006073.4(TRDN):c.2051-13C>T
NM_006073.4(TRDN):c.2051-19_2051-18inv
NM_006073.4(TRDN):c.2051-5C>T
NM_006073.4(TRDN):c.2072G>C (p.Cys691Ser) rs2114492427
NM_006073.4(TRDN):c.207T>C (p.Asp69=)
NM_006073.4(TRDN):c.2090A>G (p.Tyr697Cys)
NM_006073.4(TRDN):c.2092A>G (p.Asn698Asp) rs777779916
NM_006073.4(TRDN):c.2094T>C (p.Asn698=)
NM_006073.4(TRDN):c.2096del (p.Gly699fs) rs772899515
NM_006073.4(TRDN):c.209T>C (p.Leu70Ser)
NM_006073.4(TRDN):c.2108A>G (p.Gln703Arg) rs1390830578
NM_006073.4(TRDN):c.2109G>T (p.Gln703His)
NM_006073.4(TRDN):c.211G>A (p.Val71Met)
NM_006073.4(TRDN):c.2121T>A (p.Thr707=)
NM_006073.4(TRDN):c.2123C>T (p.Pro708Leu)
NM_006073.4(TRDN):c.2126C>A (p.Ala709Glu) rs876658032
NM_006073.4(TRDN):c.2130C>A (p.Asp710Glu)
NM_006073.4(TRDN):c.2134C>T (p.Pro712Ser)
NM_006073.4(TRDN):c.213G>A (p.Val71=)
NM_006073.4(TRDN):c.2146T>C (p.Ser716Pro)
NM_006073.4(TRDN):c.2149_2150del (p.Gly717fs)
NM_006073.4(TRDN):c.214G>A (p.Asp72Asn) rs919863113
NM_006073.4(TRDN):c.214G>T (p.Asp72Tyr)
NM_006073.4(TRDN):c.2150G>A (p.Gly717Asp)
NM_006073.4(TRDN):c.2154A>C (p.Gln718His)
NM_006073.4(TRDN):c.2160T>C (p.Asn720=)
NM_006073.4(TRDN):c.2165C>T (p.Pro722Leu) rs2114492200
NM_006073.4(TRDN):c.2167G>A (p.Gly723Arg) rs2114492194
NM_006073.4(TRDN):c.2169A>G (p.Gly723=)
NM_006073.4(TRDN):c.2180A>G (p.Gln727Arg)
NM_006073.4(TRDN):c.2183G>T (p.Gly728Val)
NM_006073.4(TRDN):c.2185C>G (p.Gln729Glu)
NM_006073.4(TRDN):c.2189A>G (p.Ter730=)
NM_006073.4(TRDN):c.219C>T (p.Tyr73=)
NM_006073.4(TRDN):c.22+19G>C
NM_006073.4(TRDN):c.22+1G>T rs1290195833
NM_006073.4(TRDN):c.226T>C (p.Phe76Leu) rs1782541809
NM_006073.4(TRDN):c.231A>G (p.Ser77=) rs2114537218
NM_006073.4(TRDN):c.232+11T>C
NM_006073.4(TRDN):c.232+2T>A rs1554258777
NM_006073.4(TRDN):c.232+2T>C
NM_006073.4(TRDN):c.232+6T>C rs747825904
NM_006073.4(TRDN):c.233-11A>G
NM_006073.4(TRDN):c.233-13del rs66509682
NM_006073.4(TRDN):c.233-149C>A rs7749215
NM_006073.4(TRDN):c.233-14_233-13del rs66509682
NM_006073.4(TRDN):c.233-15_233-13del rs66509682
NM_006073.4(TRDN):c.237C>T (p.Ser79=) rs2114437291
NM_006073.4(TRDN):c.245C>T (p.Ala82Val)
NM_006073.4(TRDN):c.24A>G (p.Gly8=)
NM_006073.4(TRDN):c.252T>G (p.Ile84Met)
NM_006073.4(TRDN):c.271C>T (p.Leu91=)
NM_006073.4(TRDN):c.274G>T (p.Val92Leu) rs34808221
NM_006073.4(TRDN):c.277C>A (p.Arg93Ser)
NM_006073.4(TRDN):c.292G>A (p.Glu98Lys)
NM_006073.4(TRDN):c.292delinsAA (p.Glu98fs)
NM_006073.4(TRDN):c.296C>G (p.Thr99Ser)
NM_006073.4(TRDN):c.29C>A (p.Ala10Glu)
NM_006073.4(TRDN):c.2T>C (p.Met1Thr)
NM_006073.4(TRDN):c.305G>A (p.Trp102Ter)
NM_006073.4(TRDN):c.306G>T (p.Trp102Cys)
NM_006073.4(TRDN):c.307A>G (p.Ile103Val) rs535845814
NM_006073.4(TRDN):c.312T>C (p.Tyr104=)
NM_006073.4(TRDN):c.326del (p.Leu109fs)
NM_006073.4(TRDN):c.334del (p.Asp112fs)
NM_006073.4(TRDN):c.337ATC[1] (p.Ile114del) rs1781228259
NM_006073.4(TRDN):c.339C>A (p.Ile113=)
NM_006073.4(TRDN):c.344C>T (p.Ser115Leu)
NM_006073.4(TRDN):c.346T>A (p.Ser116Thr) rs768047321
NM_006073.4(TRDN):c.346T>C (p.Ser116Pro) rs768047321
NM_006073.4(TRDN):c.348T>C (p.Ser116=) rs746361154
NM_006073.4(TRDN):c.355G>A (p.Glu119Lys)
NM_006073.4(TRDN):c.356A>G (p.Glu119Gly) rs2114436566
NM_006073.4(TRDN):c.35C>G (p.Thr12Arg)
NM_006073.4(TRDN):c.362ATG[2] (p.Asp123del) rs746889615
NM_006073.4(TRDN):c.366T>A (p.Asp122Glu)
NM_006073.4(TRDN):c.384T>C (p.Thr128=) rs2114436256
NM_006073.4(TRDN):c.386A>T (p.Asp129Val)
NM_006073.4(TRDN):c.391+13T>C
NM_006073.4(TRDN):c.391+19T>A
NM_006073.4(TRDN):c.391+1G>A rs2114436209
NM_006073.4(TRDN):c.391G>C (p.Gly131Arg) rs1245170587
NM_006073.4(TRDN):c.392-153dup rs59703987
NM_006073.4(TRDN):c.392-6G>C rs1781166505
NM_006073.4(TRDN):c.392-7G>T rs1781166753
NM_006073.4(TRDN):c.392G>C (p.Gly131Ala)
NM_006073.4(TRDN):c.402T>C (p.Asp134=) rs1583222819
NM_006073.4(TRDN):c.410C>T (p.Pro137Leu) rs1242484153
NM_006073.4(TRDN):c.411C>T (p.Pro137=)
NM_006073.4(TRDN):c.414G>A (p.Leu138=)
NM_006073.4(TRDN):c.416G>A (p.Arg139Lys) rs1562379256
NM_006073.4(TRDN):c.417A>G (p.Arg139=) rs1781163116
NM_006073.4(TRDN):c.41C>T (p.Thr14Ile) rs2114538213
NM_006073.4(TRDN):c.423del (p.Glu142fs) rs757805966
NM_006073.4(TRDN):c.424+13C>T
NM_006073.4(TRDN):c.424+13_424+14delinsTC rs1554256111
NM_006073.4(TRDN):c.424+14A>G
NM_006073.4(TRDN):c.424+1G>T
NM_006073.4(TRDN):c.424+8G>A rs906772880
NM_006073.4(TRDN):c.424G>T (p.Glu142Ter)
NM_006073.4(TRDN):c.425-11T>C rs2114339291
NM_006073.4(TRDN):c.425-11T>G
NM_006073.4(TRDN):c.425-11dup rs950851610
NM_006073.4(TRDN):c.425-12A>G
NM_006073.4(TRDN):c.425-14C>A
NM_006073.4(TRDN):c.425-4_425-3insLINE1
NM_006073.4(TRDN):c.425-7T>C
NM_006073.4(TRDN):c.427A>C (p.Ile143Leu)
NM_006073.4(TRDN):c.432C>G (p.His144Gln)
NM_006073.4(TRDN):c.432C>T (p.His144=)
NM_006073.4(TRDN):c.436G>T (p.Asp146Tyr) rs1780197036
NM_006073.4(TRDN):c.438_442del (p.Asp146_Lys147insTer) rs752256846
NM_006073.4(TRDN):c.439_440del (p.Lys147fs) rs2114339116
NM_006073.4(TRDN):c.440A>G (p.Lys147Arg) rs2114339102
NM_006073.4(TRDN):c.445G>A (p.Glu149Lys) rs902398250
NM_006073.4(TRDN):c.44_49del (p.Thr15_Val16del) rs1271763031
NM_006073.4(TRDN):c.451C>T (p.Gln151Ter)
NM_006073.4(TRDN):c.461C>T (p.Pro154Leu)
NM_006073.4(TRDN):c.464A>G (p.Glu155Gly)
NM_006073.4(TRDN):c.478A>T (p.Thr160Ser)
NM_006073.4(TRDN):c.480T>C (p.Thr160=) rs1020844292
NM_006073.4(TRDN):c.483del (p.Val162fs)
NM_006073.4(TRDN):c.484+10T>C
NM_006073.4(TRDN):c.484+1189G>A
NM_006073.4(TRDN):c.484+1229T>C
NM_006073.4(TRDN):c.484+153_484+179del rs6149788
NM_006073.4(TRDN):c.484+6C>T rs115773202
NM_006073.4(TRDN):c.485-19T>C
NM_006073.4(TRDN):c.485-20A>G
NM_006073.4(TRDN):c.485-8C>T rs767131579
NM_006073.4(TRDN):c.488C>T (p.Thr163Ile)
NM_006073.4(TRDN):c.497AAAAAG[1] (p.166EK[1]) rs148596612
NM_006073.4(TRDN):c.502G>T (p.Glu168Ter) rs545032318
NM_006073.4(TRDN):c.502del (p.Glu168fs)
NM_006073.4(TRDN):c.507dup (p.Gly170fs)
NM_006073.4(TRDN):c.508G>T (p.Gly170Ter)
NM_006073.4(TRDN):c.50T>C (p.Ile17Thr) rs1583264951
NM_006073.4(TRDN):c.515_520del (p.Glu172_Lys173del)
NM_006073.4(TRDN):c.520_550+494del rs1562358749
NM_006073.4(TRDN):c.525A>G (p.Arg175=)
NM_006073.4(TRDN):c.526GAAAAA[1] (p.176EK[1]) rs1319934569
NM_006073.4(TRDN):c.52G>A (p.Asp18Asn)
NM_006073.4(TRDN):c.531del (p.Glu178fs) rs1432170970
NM_006073.4(TRDN):c.532_533del (p.Glu178fs)
NM_006073.4(TRDN):c.537A>T (p.Lys179Asn)
NM_006073.4(TRDN):c.53_56del (p.Asp18fs) rs768049331
NM_006073.4(TRDN):c.542A>C (p.Glu181Ala)
NM_006073.4(TRDN):c.542A>T (p.Glu181Val)
NM_006073.4(TRDN):c.545A>G (p.Lys182Arg)
NM_006073.4(TRDN):c.550+12C>T rs2114871069
NM_006073.4(TRDN):c.550+1_550+2insA
NM_006073.4(TRDN):c.550G>A (p.Ala184Thr) rs576028226
NM_006073.4(TRDN):c.551-19G>C
NM_006073.4(TRDN):c.551-20T>C rs1554251627
NM_006073.4(TRDN):c.551-7G>A
NM_006073.4(TRDN):c.551-7G>C
NM_006073.4(TRDN):c.551C>A (p.Ala184Glu)
NM_006073.4(TRDN):c.553A>G (p.Thr185Ala) rs1064796444
NM_006073.4(TRDN):c.568dup (p.Ile190fs) rs1085307100
NM_006073.4(TRDN):c.569T>A (p.Ile190Asn) rs1205195262
NM_006073.4(TRDN):c.573dup (p.Lys192fs) rs1554251609
NM_006073.4(TRDN):c.579A>G (p.Lys193=)
NM_006073.4(TRDN):c.57_58insTTTT (p.Lys20delinsPheTer)
NM_006073.4(TRDN):c.585A>G (p.Lys195=)
NM_006073.4(TRDN):c.587C>A (p.Pro196Gln)
NM_006073.4(TRDN):c.587C>T (p.Pro196Leu) rs1277590915
NM_006073.4(TRDN):c.591A>G (p.Glu197=)
NM_006073.4(TRDN):c.601_610+45delinsG
NM_006073.4(TRDN):c.604_610+47del rs1554251571
NM_006073.4(TRDN):c.610+10C>A rs1779222090
NM_006073.4(TRDN):c.610+11A>G
NM_006073.4(TRDN):c.611-1G>A
NM_006073.4(TRDN):c.611A>G (p.Glu204Gly)
NM_006073.4(TRDN):c.618del (p.Ala208fs) rs1060502114
NM_006073.4(TRDN):c.62A>C (p.Asn21Thr)
NM_006073.4(TRDN):c.630T>C (p.Thr210=)
NM_006073.4(TRDN):c.651G>A (p.Lys217=) rs781233223
NM_006073.4(TRDN):c.655A>G (p.Lys219Glu) rs1562351485
NM_006073.4(TRDN):c.658A>T (p.Lys220Ter) rs2114833320
NM_006073.4(TRDN):c.659A>G (p.Lys220Arg)
NM_006073.4(TRDN):c.65G>T (p.Gly22Val)
NM_006073.4(TRDN):c.670G>A (p.Gly224Ser)
NM_006073.4(TRDN):c.68C>G (p.Ser23Cys)
NM_006073.4(TRDN):c.690G>A (p.Val230=)
NM_006073.4(TRDN):c.691A>G (p.Lys231Glu)
NM_006073.4(TRDN):c.693G>A (p.Lys231=) rs754258360
NM_006073.4(TRDN):c.705A>G (p.Ala235=) rs1778803094
NM_006073.4(TRDN):c.70G>A (p.Val24Met)
NM_006073.4(TRDN):c.712A>G (p.Lys238Glu)
NM_006073.4(TRDN):c.713A>G (p.Lys238Arg)
NM_006073.4(TRDN):c.713AAG[1] (p.Glu239del)
NM_006073.4(TRDN):c.730C>A (p.Pro244Thr) rs2114833034
NM_006073.4(TRDN):c.731del (p.Pro244fs) rs1440670208
NM_006073.4(TRDN):c.742A>G (p.Lys248Glu) rs2114833012
NM_006073.4(TRDN):c.744del (p.Glu249fs)
NM_006073.4(TRDN):c.749A>G (p.Lys250Arg)
NM_006073.4(TRDN):c.750G>T (p.Lys250Asn) rs138912040
NM_006073.4(TRDN):c.766G>A (p.Ala256Thr)
NM_006073.4(TRDN):c.772G>C (p.Val258Leu)
NM_006073.4(TRDN):c.772G>T (p.Val258Leu)
NM_006073.4(TRDN):c.779A>G (p.Lys260Arg)
NM_006073.4(TRDN):c.77A>G (p.Lys26Arg)
NM_006073.4(TRDN):c.780G>A (p.Lys260=) rs771614858
NM_006073.4(TRDN):c.782A>G (p.His261Arg)
NM_006073.4(TRDN):c.790A>G (p.Lys264Glu) rs574484615
NM_006073.4(TRDN):c.793+29A>T
NM_006073.4(TRDN):c.793+7A>G rs373240967
NM_006073.4(TRDN):c.793G>T (p.Asp265Tyr) rs1021886509
NM_006073.4(TRDN):c.794-10A>G
NM_006073.4(TRDN):c.794-12C>T
NM_006073.4(TRDN):c.794-8T>A
NM_006073.4(TRDN):c.795T>A (p.Asp265Glu)
NM_006073.4(TRDN):c.798G>C (p.Gln266His) rs1562347184
NM_006073.4(TRDN):c.801T>C (p.Tyr267=)
NM_006073.4(TRDN):c.802G>A (p.Ala268Thr) rs1223374508
NM_006073.4(TRDN):c.803C>T (p.Ala268Val) rs1465535140
NM_006073.4(TRDN):c.805T>G (p.Phe269Val)
NM_006073.4(TRDN):c.809G>A (p.Cys270Tyr) rs1778487507
NM_006073.4(TRDN):c.80C>T (p.Ser27Phe) rs770488451
NM_006073.4(TRDN):c.812G>C (p.Arg271Pro)
NM_006073.4(TRDN):c.81C>T (p.Ser27=) rs2114538002
NM_006073.4(TRDN):c.829T>G (p.Phe277Val)
NM_006073.4(TRDN):c.832G>C (p.Val278Leu)
NM_006073.4(TRDN):c.833T>C (p.Val278Ala) rs954714094
NM_006073.4(TRDN):c.836A>G (p.His279Arg) rs1251196961
NM_006073.4(TRDN):c.839G>A (p.Gly280Glu) rs903971281
NM_006073.4(TRDN):c.840G>T (p.Gly280=)
NM_006073.4(TRDN):c.842A>T (p.Asp281Val)
NM_006073.4(TRDN):c.853+10G>A
NM_006073.4(TRDN):c.854-10C>A
NM_006073.4(TRDN):c.854-134del rs5879683
NM_006073.4(TRDN):c.854-13C>G
NM_006073.4(TRDN):c.854-17A>G rs1776700892
NM_006073.4(TRDN):c.854-2A>T
NM_006073.4(TRDN):c.854-325C>T rs1343640
NM_006073.4(TRDN):c.854-4G>A
NM_006073.4(TRDN):c.854G>A (p.Gly285Glu)
NM_006073.4(TRDN):c.856_890del (p.Gln286fs)
NM_006073.4(TRDN):c.861C>T (p.Ser287=) rs769586528
NM_006073.4(TRDN):c.865G>A (p.Ala289Thr)
NM_006073.4(TRDN):c.872C>T (p.Pro291Leu) rs530972011
NM_006073.4(TRDN):c.874C>T (p.Pro292Ser)
NM_006073.4(TRDN):c.876T>A (p.Pro292=)
NM_006073.4(TRDN):c.877C>T (p.Pro293Ser)
NM_006073.4(TRDN):c.87A>T (p.Gly29=)
NM_006073.4(TRDN):c.881T>A (p.Leu294Ter)
NM_006073.4(TRDN):c.899C>G (p.Ser300Cys) rs2114709180
NM_006073.4(TRDN):c.901A>C (p.Arg301=)
NM_006073.4(TRDN):c.90A>T (p.Lys30Asn) rs2114537932
NM_006073.4(TRDN):c.912G>A (p.Pro304=)
NM_006073.4(TRDN):c.91del (p.Val31fs) rs2114537918
NM_006073.4(TRDN):c.920C>T (p.Pro307Leu)
NM_006073.4(TRDN):c.923C>T (p.Ala308Val) rs1776696081
NM_006073.4(TRDN):c.925C>T (p.Leu309Phe)
NM_006073.4(TRDN):c.92T>A (p.Val31Glu)
NM_006073.4(TRDN):c.931+18del rs201431159
NM_006073.4(TRDN):c.931+18dup rs201431159
NM_006073.4(TRDN):c.931+9T>C rs2114709001
NM_006073.4(TRDN):c.932-1G>C
NM_006073.4(TRDN):c.932-6C>A rs886061033
NM_006073.4(TRDN):c.945A>G (p.Glu315=)
NM_006073.4(TRDN):c.946AAG[2] (p.Lys318del) rs1774734616
NM_006073.4(TRDN):c.947A>T (p.Lys316Met)
NM_006073.4(TRDN):c.948G>A (p.Lys316=) rs1060504473
NM_006073.4(TRDN):c.94C>A (p.Leu32Met) rs755548582
NM_006073.4(TRDN):c.960G>A (p.Glu320=)
NM_006073.4(TRDN):c.963G>A (p.Lys321=)
NM_006073.4(TRDN):c.979A>G (p.Thr327Ala)
NM_006073.4(TRDN):c.984A>T (p.Lys328Asn) rs1774733806
NM_006073.4(TRDN):c.991+19A>G
NM_006073.4(TRDN):c.992-15T>C
NM_006073.4(TRDN):c.992-203_992-202insA rs146284588
NM_006073.4(TRDN):c.992-203_992-202insAAA rs146284588
NM_006073.4(TRDN):c.992-203_992-202insAAAA
NM_006073.4(TRDN):c.992-206_992-204dup rs34201164
NM_006073.4(TRDN):c.992-215dup rs34201164
NM_006073.4(TRDN):c.9G>C (p.Glu3Asp) rs1185669572

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