ClinVar Miner

List of variants in gene SH3TC2 studied for Charcot-Marie-Tooth disease

Included ClinVar conditions (172):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1563
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HGVS dbSNP gnomAD frequency
NM_024577.4(SH3TC2):c.1587T>G (p.Arg529=) rs1432794 0.97933
NM_024577.4(SH3TC2):c.*3136G>A rs1019927 0.97931
NM_024577.4(SH3TC2):c.*15823T>C rs4562031 0.77381
NM_024577.4(SH3TC2):c.*18554G>T rs10040598 0.76741
NM_024577.4(SH3TC2):c.*16950T>C rs10040798 0.76017
NM_024577.4(SH3TC2):c.*17703A>G rs4235739 0.59322
NM_024577.4(SH3TC2):c.*16020A>C rs4543254 0.57641
NM_024577.4(SH3TC2):c.*11390A>G rs3213854 0.52790
NM_024577.4(SH3TC2):c.*3077C>T rs1045942 0.52772
NM_024577.4(SH3TC2):c.*5490G>A rs1432795 0.52698
NM_024577.4(SH3TC2):c.*19040A>G rs930205 0.51121
NM_024577.4(SH3TC2):c.*7292C>T rs1347130 0.49144
NM_024577.4(SH3TC2):c.*14766T>A rs891919 0.49105
NM_024577.4(SH3TC2):c.1194T>C (p.Gly398=) rs1432793 0.48793
NM_024577.4(SH3TC2):c.*16631G>A rs4705303 0.45194
NM_024577.4(SH3TC2):c.*3196T>C rs3763022 0.34686
NM_024577.4(SH3TC2):c.*929G>C rs1432798 0.31381
NM_024577.4(SH3TC2):c.*8111A>C rs17109205 0.24306
NM_024577.4(SH3TC2):c.*1909G>T rs998304 0.23360
NM_024577.4(SH3TC2):c.*1639T>C rs1007400 0.23355
NM_024577.4(SH3TC2):c.*5799C>T rs17109208 0.23286
NM_024577.4(SH3TC2):c.*14562G>A rs17109198 0.22872
NM_024577.4(SH3TC2):c.*14856C>A rs891920 0.22858
NM_024577.4(SH3TC2):c.*2956C>T rs3763020 0.22548
NM_024577.4(SH3TC2):c.*8248G>C rs56309414 0.22436
NM_024577.4(SH3TC2):c.1402G>T (p.Ala468Ser) rs6875902 0.22262
NM_024577.4(SH3TC2):c.*6436G>T rs11168079 0.19789
NM_024577.4(SH3TC2):c.*719G>A rs10050933 0.18073
NM_024577.4(SH3TC2):c.*5999G>A rs79866394 0.16703
NM_024577.4(SH3TC2):c.*4719C>G rs6885467 0.16464
NM_024577.4(SH3TC2):c.*1309C>T rs1007401 0.16452
NM_024577.4(SH3TC2):c.*6692A>G rs11168078 0.16452
NM_024577.4(SH3TC2):c.*17903A>G rs76444127 0.16396
NM_024577.4(SH3TC2):c.*14621G>T rs17795097 0.16395
NM_024577.4(SH3TC2):c.*10968G>A rs13166730 0.11562
NM_024577.4(SH3TC2):c.*8756G>T rs7733177 0.08504
NM_024577.4(SH3TC2):c.*19519G>A rs10039839 0.07821
NM_024577.4(SH3TC2):c.*11852G>T rs13359285 0.07778
NM_024577.4(SH3TC2):c.*1935T>C rs6883926 0.04318
NM_024577.4(SH3TC2):c.*21472A>G rs59731646 0.03434
NM_024577.4(SH3TC2):c.2235T>G (p.Ala745=) rs78120278 0.03339
NM_024577.4(SH3TC2):c.*17317G>A rs78254952 0.03209
NM_024577.4(SH3TC2):c.*2397G>A rs17722155 0.03207
NM_024577.4(SH3TC2):c.*3860G>A rs1432797 0.03207
NM_024577.4(SH3TC2):c.*10485G>A rs76931184 0.03206
NM_024577.4(SH3TC2):c.*6162C>T rs17795115 0.03204
NM_024577.4(SH3TC2):c.*2900G>T rs3763019 0.03116
NM_024577.4(SH3TC2):c.*11120G>A rs2069087 0.03085
NM_024577.4(SH3TC2):c.*2428C>T rs149384180 0.03078
NM_024577.4(SH3TC2):c.512G>A (p.Gly171Glu) rs17722293 0.02854
NM_024577.4(SH3TC2):c.*14411G>A rs143623684 0.02369
NM_024577.4(SH3TC2):c.1350G>A (p.Pro450=) rs17722227 0.02289
NM_024577.4(SH3TC2):c.3472G>A (p.Val1158Ile) rs55853803 0.02130
NM_024577.4(SH3TC2):c.2872+9G>A rs76488338 0.01755
NM_024577.4(SH3TC2):c.*12969C>A rs76955068 0.01682
NM_024577.4(SH3TC2):c.*18299C>T rs147903089 0.01595
NM_024577.4(SH3TC2):c.*7810T>A rs57517567 0.01532
NM_024577.4(SH3TC2):c.*14750A>G rs149133999 0.01302
NM_024577.4(SH3TC2):c.*10767G>A rs139720866 0.01293
NM_024577.4(SH3TC2):c.*4279C>G rs74578025 0.01256
NM_024577.4(SH3TC2):c.477T>A (p.Ser159=) rs77574155 0.01137
NM_024577.4(SH3TC2):c.*2237G>A rs76481943 0.01060
NM_024577.4(SH3TC2):c.*14894G>A rs17109192 0.01038
NM_024577.4(SH3TC2):c.*8533A>G rs139372772 0.00891
NM_024577.4(SH3TC2):c.*6242A>G rs142279453 0.00889
NM_024577.4(SH3TC2):c.*122G>T rs114151926 0.00888
NM_024577.4(SH3TC2):c.*11604G>A rs143229015 0.00876
NM_024577.4(SH3TC2):c.*8053G>A rs115027318 0.00859
NM_024577.4(SH3TC2):c.*10864G>A rs189701174 0.00853
NM_024577.4(SH3TC2):c.*12807G>A rs150317192 0.00846
NM_024577.4(SH3TC2):c.*3694T>A rs115774169 0.00844
NM_024577.4(SH3TC2):c.*16947C>T rs142551288 0.00770
NM_024577.4(SH3TC2):c.*4052T>C rs147125913 0.00707
NM_024577.4(SH3TC2):c.*15489G>A rs115194965 0.00652
NM_024577.4(SH3TC2):c.*6470T>C rs185164450 0.00616
NM_024577.4(SH3TC2):c.645C>T (p.Ser215=) rs80227512 0.00587
NM_024577.4(SH3TC2):c.*15061C>T rs115722370 0.00585
NM_024577.4(SH3TC2):c.*16395G>T rs116508083 0.00567
NM_024577.4(SH3TC2):c.*12190G>A rs116091693 0.00555
NM_024577.4(SH3TC2):c.2868A>G (p.Leu956=) rs115507662 0.00534
NM_024577.4(SH3TC2):c.*10101C>T rs552099019 0.00533
NM_024577.4(SH3TC2):c.*10099A>T rs570266229 0.00531
NM_024577.4(SH3TC2):c.*10052C>T rs113802539 0.00525
NM_024577.4(SH3TC2):c.2087A>G (p.His696Arg) rs17109261 0.00521
NM_024577.4(SH3TC2):c.*19270G>A rs149188140 0.00516
NM_024577.4(SH3TC2):c.*2862G>A rs116548620 0.00495
NM_024577.4(SH3TC2):c.2691C>G (p.Asn897Lys) rs73795753 0.00494
NM_024577.4(SH3TC2):c.*10120C>A rs13355933 0.00493
NM_024577.4(SH3TC2):c.*47C>T rs79738100 0.00493
NM_024577.4(SH3TC2):c.*7251A>G rs73795731 0.00491
NM_024577.4(SH3TC2):c.*13514A>G rs78516040 0.00490
NM_024577.4(SH3TC2):c.*1246G>A rs142628780 0.00469
NM_024577.4(SH3TC2):c.*6600T>C rs115541211 0.00464
NM_024577.4(SH3TC2):c.2913C>T (p.Ser971=) rs13436308 0.00462
NM_024577.4(SH3TC2):c.*16169G>A rs191600511 0.00417
NM_024577.4(SH3TC2):c.1403C>T (p.Ala468Val) rs6874630 0.00407
NM_024577.4(SH3TC2):c.*3430T>A rs184043381 0.00400
NM_024577.4(SH3TC2):c.3362C>T (p.Ala1121Val) rs115577291 0.00390
NM_024577.4(SH3TC2):c.*8277G>A rs147532508 0.00387
NM_024577.4(SH3TC2):c.*3061A>G rs138823547 0.00372
NM_024577.4(SH3TC2):c.*6051G>A rs146293131 0.00361
NM_024577.4(SH3TC2):c.*21786G>A rs6890482 0.00357
NM_024577.4(SH3TC2):c.*6301C>T rs188143654 0.00337
NM_024577.4(SH3TC2):c.3294C>T (p.Thr1098=) rs193067884 0.00337
NM_024577.4(SH3TC2):c.*18606T>G rs182775401 0.00336
NM_024577.4(SH3TC2):c.*5689A>C rs537285537 0.00334
NM_024577.4(SH3TC2):c.*12550A>G rs137953180 0.00330
NM_024577.4(SH3TC2):c.*5368C>T rs189202481 0.00329
NM_024577.4(SH3TC2):c.*3079G>A rs185297430 0.00322
NM_024577.4(SH3TC2):c.*6047T>A rs139490756 0.00322
NM_024577.4(SH3TC2):c.*7918C>T rs148732819 0.00322
NM_024577.4(SH3TC2):c.*13204A>G rs141603977 0.00315
NM_024577.4(SH3TC2):c.*5536T>G rs146756049 0.00315
NM_024577.4(SH3TC2):c.*16784C>T rs144720540 0.00314
NM_024577.4(SH3TC2):c.*1750C>T rs146276637 0.00314
NM_024577.4(SH3TC2):c.*5947C>G rs143516557 0.00314
NM_024577.4(SH3TC2):c.*13230C>T rs138600983 0.00313
NM_024577.4(SH3TC2):c.*22212G>A rs149300520 0.00313
NM_024577.4(SH3TC2):c.*11010A>G rs114735628 0.00312
NM_024577.4(SH3TC2):c.3686A>T (p.Asp1229Val) rs146920285 0.00306
NM_024577.4(SH3TC2):c.*13598A>G rs141011337 0.00299
NM_024577.4(SH3TC2):c.238G>A (p.Ala80Thr) rs112507765 0.00297
NM_024577.4(SH3TC2):c.*4298C>T rs145849837 0.00296
NM_024577.4(SH3TC2):c.*13352G>A rs192178726 0.00295
NM_024577.4(SH3TC2):c.558C>T (p.Ser186=) rs141289653 0.00290
NM_024577.4(SH3TC2):c.1842C>T (p.Asp614=) rs138411915 0.00267
NM_024577.4(SH3TC2):c.3479-8A>G rs147800229 0.00227
NM_024577.4(SH3TC2):c.*16056C>T rs147906062 0.00226
NM_024577.4(SH3TC2):c.1473C>T (p.Phe491=) rs144016931 0.00213
NM_024577.4(SH3TC2):c.*15125C>G rs181229340 0.00206
NM_024577.4(SH3TC2):c.*578C>T rs567100275 0.00206
NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His) rs80359890 0.00205
NM_024577.4(SH3TC2):c.*13465C>A rs186009343 0.00201
NM_024577.4(SH3TC2):c.*4638A>T rs117883175 0.00201
NM_024577.4(SH3TC2):c.*7917A>G rs546816780 0.00173
NM_024577.4(SH3TC2):c.1862G>A (p.Arg621His) rs143032801 0.00173
NM_024577.4(SH3TC2):c.*3058A>G rs563916447 0.00168
NM_024577.4(SH3TC2):c.3813C>T (p.Ser1271=) rs140985600 0.00166
NM_024577.4(SH3TC2):c.*15639A>G rs190478262 0.00160
NM_024577.4(SH3TC2):c.*22357T>C rs191754280 0.00158
NM_024577.4(SH3TC2):c.*20773G>T rs113020040 0.00155
NM_024577.4(SH3TC2):c.*7006T>C rs187720692 0.00154
NM_024577.4(SH3TC2):c.2873-18T>C rs113514936 0.00154
NM_024577.4(SH3TC2):c.*10105C>T rs753563756 0.00153
NM_024577.4(SH3TC2):c.*1982C>A rs535127091 0.00153
NM_024577.4(SH3TC2):c.*391G>C rs117139060 0.00153
NM_024577.4(SH3TC2):c.1177+10G>A rs139257109 0.00153
NM_024577.4(SH3TC2):c.*20882A>G rs112269889 0.00150
NM_024577.4(SH3TC2):c.*21658A>G rs145964634 0.00146
NM_024577.4(SH3TC2):c.*1720T>A rs148473467 0.00143
NM_024577.4(SH3TC2):c.*2361A>T rs146327509 0.00137
NM_024577.4(SH3TC2):c.*4935A>T rs149921013 0.00135
NM_024577.4(SH3TC2):c.*13645C>T rs180704051 0.00133
NM_024577.4(SH3TC2):c.*797A>G rs140821223 0.00133
NM_024577.4(SH3TC2):c.3834G>A (p.Ala1278=) rs117804174 0.00133
NM_024577.4(SH3TC2):c.79A>G (p.Thr27Ala) rs141649676 0.00133
NM_024577.4(SH3TC2):c.73G>T (p.Asp25Tyr) rs10066882 0.00128
NM_024577.4(SH3TC2):c.*2081T>G rs543206033 0.00127
NM_024577.4(SH3TC2):c.*39A>C rs76579569 0.00127
NM_024577.4(SH3TC2):c.*4555A>G rs117287440 0.00126
NM_024577.4(SH3TC2):c.*4691C>T rs574710725 0.00126
NM_024577.4(SH3TC2):c.*18476T>C rs185251230 0.00125
NM_024577.4(SH3TC2):c.2322C>T (p.Asp774=) rs17795193 0.00125
NM_024577.4(SH3TC2):c.*3202T>C rs188625202 0.00120
NM_024577.4(SH3TC2):c.*16928A>G rs760134609 0.00118
NM_024577.4(SH3TC2):c.1195T>C (p.Phe399Leu) rs144764160 0.00118
NM_024577.4(SH3TC2):c.1178C>T (p.Ala393Val) rs148321018 0.00117
NM_024577.4(SH3TC2):c.137A>C (p.Gln46Pro) rs146162276 0.00114
NM_024577.4(SH3TC2):c.1299G>A (p.Ser433=) rs140904010 0.00108
NM_024577.4(SH3TC2):c.3380G>A (p.Arg1127Gln) rs139192433 0.00108
NM_024577.4(SH3TC2):c.*2987C>T rs565331463 0.00106
NM_024577.4(SH3TC2):c.*2269G>T rs575693285 0.00103
NM_024577.4(SH3TC2):c.*5277G>T rs529868327 0.00099
NM_024577.4(SH3TC2):c.*9361C>T rs573872364 0.00096
NM_024577.4(SH3TC2):c.*19002A>G rs546701780 0.00091
NM_024577.4(SH3TC2):c.1298C>T (p.Ser433Leu) rs200967041 0.00088
NM_024577.4(SH3TC2):c.*18699T>G rs117371981 0.00086
NM_024577.4(SH3TC2):c.689T>C (p.Val230Ala) rs148634904 0.00086
NM_024577.4(SH3TC2):c.*4131T>C rs141113906 0.00084
NM_024577.4(SH3TC2):c.3315G>A (p.Val1105=) rs375970910 0.00083
NM_024577.4(SH3TC2):c.*12111C>A rs930165203 0.00082
NM_024577.4(SH3TC2):c.*10113T>C rs908427102 0.00081
NM_024577.4(SH3TC2):c.*711A>C rs567593663 0.00079
NM_024577.4(SH3TC2):c.*16378C>A rs144423228 0.00077
NM_024577.4(SH3TC2):c.*1917C>T rs561485632 0.00076
NM_024577.4(SH3TC2):c.3292A>C (p.Thr1098Pro) rs77636085 0.00075
NM_024577.4(SH3TC2):c.*4713G>A rs191742061 0.00074
NM_024577.4(SH3TC2):c.3644G>A (p.Arg1215His) rs145390629 0.00074
NM_024577.4(SH3TC2):c.*9504G>A rs17722113 0.00073
NM_024577.4(SH3TC2):c.*11589C>T rs189059447 0.00072
NM_024577.4(SH3TC2):c.*9503C>T rs533786708 0.00072
NM_024577.4(SH3TC2):c.*17662T>C rs556308084 0.00070
NM_024577.4(SH3TC2):c.*11427G>A rs535822101 0.00067
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_024577.4(SH3TC2):c.*10111T>C rs943889013 0.00066
NM_024577.4(SH3TC2):c.1483A>G (p.Thr495Ala) rs10077543 0.00063
NM_024577.4(SH3TC2):c.*20935C>G rs769773057 0.00061
NM_024577.4(SH3TC2):c.*9830C>T rs557247993 0.00061
NM_024577.4(SH3TC2):c.*6993T>C rs563203537 0.00057
NM_024577.4(SH3TC2):c.1482C>T (p.Leu494=) rs200665714 0.00056
NM_024577.4(SH3TC2):c.3456C>T (p.Ala1152=) rs530810802 0.00053
NM_024577.4(SH3TC2):c.*10177T>A rs149759395 0.00052
NM_024577.4(SH3TC2):c.*1765G>C rs144178710 0.00052
NM_024577.4(SH3TC2):c.*21539T>C rs542529184 0.00052
NM_024577.4(SH3TC2):c.3550A>G (p.Met1184Val) rs142451273 0.00051
NM_024577.4(SH3TC2):c.*9969_*9972del rs113518050 0.00048
NM_024577.4(SH3TC2):c.2990G>A (p.Arg997Gln) rs140307699 0.00047
NM_024577.4(SH3TC2):c.*9953C>T rs535186520 0.00046
NM_024577.4(SH3TC2):c.257A>G (p.Gln86Arg) rs138429238 0.00046
NM_024577.4(SH3TC2):c.*21703G>A rs761390238 0.00045
NM_024577.4(SH3TC2):c.1768G>A (p.Ala590Thr) rs149244124 0.00045
NM_024577.4(SH3TC2):c.*2004A>G rs111746123 0.00044
NM_024577.4(SH3TC2):c.*7939C>A rs144288040 0.00044
NM_024577.4(SH3TC2):c.*12710G>A rs537800973 0.00043
NM_024577.4(SH3TC2):c.2812C>T (p.His938Tyr) rs144688852 0.00043
NM_024577.4(SH3TC2):c.*6350G>A rs184940808 0.00041
NM_024577.4(SH3TC2):c.*6820T>C rs60176324 0.00041
NM_024577.4(SH3TC2):c.*4511T>C rs578024597 0.00040
NM_024577.4(SH3TC2):c.*9972T>C rs778531473 0.00040
NM_024577.4(SH3TC2):c.*1616C>T rs758753462 0.00039
NM_024577.4(SH3TC2):c.*2248A>G rs187399485 0.00039
NM_024577.4(SH3TC2):c.*15235A>G rs145210501 0.00038
NM_024577.4(SH3TC2):c.2385C>T (p.Ser795=) rs145345364 0.00038
NM_024577.4(SH3TC2):c.*9969T>C rs761191045 0.00037
NM_024577.4(SH3TC2):c.1522G>A (p.Val508Met) rs148155691 0.00036
NM_024577.4(SH3TC2):c.2552G>A (p.Arg851Gln) rs751621364 0.00036
NM_024577.4(SH3TC2):c.2743A>T (p.Thr915Ser) rs141783628 0.00036
NM_024577.4(SH3TC2):c.1172T>G (p.Leu391Arg) rs141544031 0.00035
NM_024577.4(SH3TC2):c.2306A>G (p.Glu769Gly) rs151317042 0.00034
NM_024577.4(SH3TC2):c.2919G>A (p.Val973=) rs145528276 0.00034
NM_024577.4(SH3TC2):c.*837G>A rs565462353 0.00033
NM_024577.4(SH3TC2):c.3017C>T (p.Ser1006Phe) rs144733764 0.00033
NM_024577.4(SH3TC2):c.794C>T (p.Ser265Phe) rs149873249 0.00032
NM_024577.4(SH3TC2):c.1443C>T (p.Asp481=) rs146666910 0.00031
NM_024577.4(SH3TC2):c.*21728T>C rs142485824 0.00030
NM_024577.4(SH3TC2):c.*12509T>C rs550901114 0.00028
NM_024577.4(SH3TC2):c.751C>T (p.Pro251Ser) rs144963732 0.00028
NM_024577.4(SH3TC2):c.*44G>A rs200095406 0.00027
NM_024577.4(SH3TC2):c.*4603C>T rs144955630 0.00027
NM_024577.4(SH3TC2):c.*6623G>A rs78100143 0.00027
NM_024577.4(SH3TC2):c.*882G>A rs775429372 0.00027
NM_024577.4(SH3TC2):c.*2716T>C rs577940138 0.00026
NM_024577.4(SH3TC2):c.2304C>T (p.Leu768=) rs140829706 0.00026
NM_024577.4(SH3TC2):c.385+3A>G rs184593694 0.00026
NM_024577.4(SH3TC2):c.*10546C>T rs186003687 0.00025
NM_024577.4(SH3TC2):c.*626G>A rs781581124 0.00025
NM_024577.4(SH3TC2):c.*14827T>A rs569378409 0.00024
NM_024577.4(SH3TC2):c.*19438C>A rs533701005 0.00024
NM_024577.4(SH3TC2):c.*10064C>T rs904197605 0.00023
NM_024577.4(SH3TC2):c.*5741G>A rs538159827 0.00023
NM_024577.4(SH3TC2):c.1767C>T (p.Ser589=) rs139898175 0.00023
NM_024577.4(SH3TC2):c.1240G>A (p.Val414Met) rs138303846 0.00022
NM_024577.4(SH3TC2):c.2097G>A (p.Gln699=) rs117860293 0.00021
NM_024577.4(SH3TC2):c.*15967C>T rs139941418 0.00020
NM_024577.4(SH3TC2):c.1839C>T (p.Leu613=) rs182893450 0.00019
NM_024577.4(SH3TC2):c.1788T>A (p.Gly596=) rs141893132 0.00018
NM_024577.4(SH3TC2):c.2715C>G (p.Leu905=) rs141789598 0.00018
NM_024577.4(SH3TC2):c.87G>A (p.Ser29=) rs148793803 0.00018
NM_024577.4(SH3TC2):c.*12189C>T rs192729911 0.00017
NM_024577.4(SH3TC2):c.*8649A>G rs914913642 0.00017
NM_024577.4(SH3TC2):c.*11621G>A rs886060128 0.00016
NM_024577.4(SH3TC2):c.*19411T>C rs780022559 0.00016
NM_024577.4(SH3TC2):c.1973G>A (p.Arg658His) rs138040787 0.00016
NM_024577.4(SH3TC2):c.2954A>G (p.Glu985Gly) rs575937427 0.00016
NM_024577.4(SH3TC2):c.*13418G>T rs544487653 0.00015
NM_024577.4(SH3TC2):c.*20966T>G rs532239431 0.00015
NM_024577.4(SH3TC2):c.*2394C>T rs368101139 0.00015
NM_024577.4(SH3TC2):c.831G>A (p.Thr277=) rs750308484 0.00015
NM_024577.4(SH3TC2):c.*1545A>G rs898075581 0.00014
NM_024577.4(SH3TC2):c.1329G>A (p.Glu443=) rs150135768 0.00014
NM_024577.4(SH3TC2):c.1607G>A (p.Arg536Gln) rs369977771 0.00014
NM_024577.4(SH3TC2):c.*15383C>A rs186004627 0.00013
NM_024577.4(SH3TC2):c.*2500C>A rs559833500 0.00013
NM_024577.4(SH3TC2):c.*3903A>G rs750071171 0.00013
NM_024577.4(SH3TC2):c.*5304G>A rs886060171 0.00013
NM_024577.4(SH3TC2):c.*7391A>C rs886060159 0.00013
NM_024577.4(SH3TC2):c.2582G>A (p.Arg861Gln) rs142971473 0.00013
NM_024577.4(SH3TC2):c.3049G>A (p.Ala1017Thr) rs186029710 0.00013
NM_024577.4(SH3TC2):c.31C>T (p.Arg11Trp) rs149762843 0.00013
NM_024577.4(SH3TC2):c.3305A>G (p.His1102Arg) rs187975909 0.00013
NM_024577.4(SH3TC2):c.836A>G (p.Tyr279Cys) rs200215156 0.00013
NM_024577.4(SH3TC2):c.*14429T>G rs577465518 0.00012
NM_024577.4(SH3TC2):c.*14480A>G rs564255234 0.00012
NM_024577.4(SH3TC2):c.*4182A>G rs886060177 0.00012
NM_024577.4(SH3TC2):c.*5748G>A rs1038952809 0.00012
NM_024577.4(SH3TC2):c.3127G>T (p.Ala1043Ser) rs200819602 0.00012
NM_024577.4(SH3TC2):c.*12088_*12091del rs886060127 0.00011
NM_024577.4(SH3TC2):c.*19019T>C rs777292025 0.00011
NM_024577.4(SH3TC2):c.*8878T>A rs886060151 0.00011
NM_024577.4(SH3TC2):c.1097C>G (p.Thr366Ser) rs769250455 0.00011
NM_024577.4(SH3TC2):c.1326G>A (p.Pro442=) rs138967360 0.00011
NM_024577.4(SH3TC2):c.1853A>G (p.Tyr618Cys) rs772780166 0.00011
NM_024577.4(SH3TC2):c.2286C>T (p.Ile762=) rs766340169 0.00011
NM_024577.4(SH3TC2):c.*10875T>C rs184560843 0.00010
NM_024577.4(SH3TC2):c.*11542G>A rs886060130 0.00010
NM_024577.4(SH3TC2):c.*15824G>A rs530880070 0.00010
NM_024577.4(SH3TC2):c.*5740C>T rs886060167 0.00010
NM_024577.4(SH3TC2):c.1106G>A (p.Arg369His) rs551803988 0.00010
NM_024577.4(SH3TC2):c.188G>A (p.Arg63Lys) rs747938069 0.00010
NM_024577.4(SH3TC2):c.2273C>A (p.Ala758Asp) rs200006756 0.00010
NM_024577.4(SH3TC2):c.3013G>A (p.Glu1005Lys) rs147895061 0.00010
NM_024577.4(SH3TC2):c.3413G>A (p.Ser1138Asn) rs150805608 0.00010
NM_024577.4(SH3TC2):c.529+8T>A rs780594631 0.00010
NM_024577.4(SH3TC2):c.894C>T (p.Ile298=) rs779808918 0.00010
NM_024577.4(SH3TC2):c.*10132A>G rs886060138 0.00009
NM_024577.4(SH3TC2):c.*10863C>T rs181346624 0.00009
NM_024577.4(SH3TC2):c.*14985A>G rs886060116 0.00009
NM_024577.4(SH3TC2):c.*16590A>G rs564063667 0.00009
NM_024577.4(SH3TC2):c.*21395T>C rs886060094 0.00009
NM_024577.4(SH3TC2):c.*22034C>T rs886060093 0.00009
NM_024577.4(SH3TC2):c.*9026A>T rs1000086928 0.00009
NM_024577.4(SH3TC2):c.*9034A>G rs750855366 0.00009
NM_024577.4(SH3TC2):c.1002-7G>A rs752528409 0.00009
NM_024577.4(SH3TC2):c.1861C>T (p.Arg621Cys) rs201403149 0.00009
NM_024577.4(SH3TC2):c.197T>C (p.Val66Ala) rs1485527369 0.00009
NM_024577.4(SH3TC2):c.2310C>T (p.His770=) rs142462049 0.00009
NM_024577.4(SH3TC2):c.259G>C (p.Glu87Gln) rs947749200 0.00009
NM_024577.4(SH3TC2):c.280-5C>T rs201937366 0.00009
NM_024577.4(SH3TC2):c.3166C>T (p.Leu1056Phe) rs201805333 0.00009
NM_024577.4(SH3TC2):c.3459C>G (p.Ala1153=) rs1030348232 0.00009
NM_024577.4(SH3TC2):c.3836G>A (p.Arg1279Gln) rs142774907 0.00009
NM_024577.4(SH3TC2):c.549C>T (p.Ala183=) rs147013935 0.00009
NM_024577.4(SH3TC2):c.*22208T>C rs756451967 0.00008
NM_024577.4(SH3TC2):c.*2982T>C rs886060180 0.00008
NM_024577.4(SH3TC2):c.*4576G>T rs996951340 0.00008
NM_024577.4(SH3TC2):c.1105C>T (p.Arg369Cys) rs569974719 0.00008
NM_024577.4(SH3TC2):c.1163C>T (p.Pro388Leu) rs146364285 0.00008
NM_024577.4(SH3TC2):c.1725G>T (p.Leu575Phe) rs376266262 0.00008
NM_024577.4(SH3TC2):c.53-6C>T rs760274954 0.00008
NM_024577.4(SH3TC2):c.*15062G>A rs886060115 0.00007
NM_024577.4(SH3TC2):c.*2118G>A rs115163989 0.00007
NM_024577.4(SH3TC2):c.*4446G>C rs186152591 0.00007
NM_024577.4(SH3TC2):c.*4947G>A rs1012023269 0.00007
NM_024577.4(SH3TC2):c.1507G>A (p.Glu503Lys) rs78346510 0.00007
NM_024577.4(SH3TC2):c.3095G>A (p.Arg1032His) rs372839905 0.00007
NM_024577.4(SH3TC2):c.517C>A (p.Leu173Met) rs147633804 0.00007
NM_024577.4(SH3TC2):c.*11357G>A rs147502432 0.00006
NM_024577.4(SH3TC2):c.*11680C>T rs893213252 0.00006
NM_024577.4(SH3TC2):c.*1254T>C rs752672326 0.00006
NM_024577.4(SH3TC2):c.*1310G>A rs886060184 0.00006
NM_024577.4(SH3TC2):c.*16261C>T rs150690882 0.00006
NM_024577.4(SH3TC2):c.*21371A>G rs768014940 0.00006
NM_024577.4(SH3TC2):c.*2729T>C rs555581492 0.00006
NM_024577.4(SH3TC2):c.*341A>G rs868833114 0.00006
NM_024577.4(SH3TC2):c.*6557T>C rs199797914 0.00006
NM_024577.4(SH3TC2):c.*7189C>A rs886060163 0.00006
NM_024577.4(SH3TC2):c.*7269A>G rs763490898 0.00006
NM_024577.4(SH3TC2):c.*7452G>A rs761137746 0.00006
NM_024577.4(SH3TC2):c.*8521C>A rs886060152 0.00006
NM_024577.4(SH3TC2):c.1401C>T (p.Phe467=) rs150950962 0.00006
NM_024577.4(SH3TC2):c.1529A>C (p.Tyr510Ser) rs757294130 0.00006
NM_024577.4(SH3TC2):c.1721A>G (p.Asn574Ser) rs201256776 0.00006
NM_024577.4(SH3TC2):c.1814G>A (p.Arg605His) rs186864272 0.00006
NM_024577.4(SH3TC2):c.1921C>T (p.Arg641Cys) rs752002618 0.00006
NM_024577.4(SH3TC2):c.2215A>G (p.Met739Val) rs146707871 0.00006
NM_024577.4(SH3TC2):c.2492G>A (p.Ser831Asn) rs375034766 0.00006
NM_024577.4(SH3TC2):c.285C>T (p.Leu95=) rs574669908 0.00006
NM_024577.4(SH3TC2):c.3035G>A (p.Arg1012Gln) rs140666774 0.00006
NM_024577.4(SH3TC2):c.3077G>A (p.Cys1026Tyr) rs367656036 0.00006
NM_024577.4(SH3TC2):c.3094C>T (p.Arg1032Cys) rs375603885 0.00006
NM_024577.4(SH3TC2):c.3287A>G (p.Asn1096Ser) rs768331573 0.00006
NM_024577.4(SH3TC2):c.3676-9C>T rs748694034 0.00006
NM_024577.4(SH3TC2):c.3835C>T (p.Arg1279Trp) rs536334280 0.00006
NM_024577.4(SH3TC2):c.3847G>C (p.Gly1283Arg) rs370844006 0.00006
NM_024577.4(SH3TC2):c.44G>A (p.Arg15Gln) rs758276468 0.00006
NM_024577.4(SH3TC2):c.542G>T (p.Cys181Phe) rs761372346 0.00006
NM_024577.4(SH3TC2):c.805+9G>A rs143808719 0.00006
NM_024577.4(SH3TC2):c.*10014T>A rs56162234 0.00005
NM_024577.4(SH3TC2):c.*12356A>T rs553936023 0.00005
NM_024577.4(SH3TC2):c.*13923T>C rs534282709 0.00005
NM_024577.4(SH3TC2):c.*16562G>T rs369963209 0.00005
NM_024577.4(SH3TC2):c.*17192C>T rs886060104 0.00005
NM_024577.4(SH3TC2):c.*3993G>C rs138512171 0.00005
NM_024577.4(SH3TC2):c.*7254A>T rs1054000517 0.00005
NM_024577.4(SH3TC2):c.*8748G>A rs190904760 0.00005
NM_024577.4(SH3TC2):c.1653C>T (p.Phe551=) rs538871220 0.00005
NM_024577.4(SH3TC2):c.2257C>T (p.Arg753Trp) rs530824367 0.00005
NM_024577.4(SH3TC2):c.2342G>T (p.Ser781Ile) rs201934740 0.00005
NM_024577.4(SH3TC2):c.2348C>T (p.Ala783Val) rs377372640 0.00005
NM_024577.4(SH3TC2):c.3053+16G>C rs763241330 0.00005
NM_024577.4(SH3TC2):c.814C>T (p.Arg272Cys) rs146143252 0.00005
NM_024577.4(SH3TC2):c.935C>T (p.Ser312Leu) rs151205080 0.00005
NM_024577.4(SH3TC2):c.*10505A>G rs886060137 0.00004
NM_024577.4(SH3TC2):c.*12146C>G rs886060123 0.00004
NM_024577.4(SH3TC2):c.*12256G>T rs753234712 0.00004
NM_024577.4(SH3TC2):c.*17049C>G rs1330263975 0.00004
NM_024577.4(SH3TC2):c.*17833T>G rs886060103 0.00004
NM_024577.4(SH3TC2):c.*18055C>A rs912198904 0.00004
NM_024577.4(SH3TC2):c.*19250T>A rs886060099 0.00004
NM_024577.4(SH3TC2):c.*22168C>G rs886060092 0.00004
NM_024577.4(SH3TC2):c.*3419C>T rs753848228 0.00004
NM_024577.4(SH3TC2):c.*4604G>A rs886060172 0.00004
NM_024577.4(SH3TC2):c.*5264G>A rs548009546 0.00004
NM_024577.4(SH3TC2):c.*6104C>T rs556527140 0.00004
NM_024577.4(SH3TC2):c.*7898A>G rs1196588420 0.00004
NM_024577.4(SH3TC2):c.*9073G>C rs886060150 0.00004
NM_024577.4(SH3TC2):c.*921C>T rs1051987911 0.00004
NM_024577.4(SH3TC2):c.*9466A>C rs980542009 0.00004
NM_024577.4(SH3TC2):c.1168G>T (p.Asp390Tyr) rs771921298 0.00004
NM_024577.4(SH3TC2):c.1177+9C>T rs375581325 0.00004
NM_024577.4(SH3TC2):c.1239C>T (p.Ala413=) rs199756080 0.00004
NM_024577.4(SH3TC2):c.1318C>T (p.Arg440Cys) rs768012192 0.00004
NM_024577.4(SH3TC2):c.1623G>A (p.Lys541=) rs372749343 0.00004
NM_024577.4(SH3TC2):c.181C>T (p.Arg61Cys) rs773087313 0.00004
NM_024577.4(SH3TC2):c.1890G>A (p.Pro630=) rs143197881 0.00004
NM_024577.4(SH3TC2):c.1901G>C (p.Arg634Thr) rs1293958398 0.00004
NM_024577.4(SH3TC2):c.1922G>A (p.Arg641His) rs199991156 0.00004
NM_024577.4(SH3TC2):c.2323G>A (p.Gly775Ser) rs559578990 0.00004
NM_024577.4(SH3TC2):c.2449G>T (p.Asp817Tyr) rs373153093 0.00004
NM_024577.4(SH3TC2):c.2574C>T (p.Ser858=) rs200772521 0.00004
NM_024577.4(SH3TC2):c.265C>T (p.Arg89Cys) rs142488510 0.00004
NM_024577.4(SH3TC2):c.2858A>C (p.His953Pro) rs369278337 0.00004
NM_024577.4(SH3TC2):c.302G>A (p.Ser101Asn) rs199603042 0.00004
NM_024577.4(SH3TC2):c.3150G>A (p.Ala1050=) rs768044718 0.00004
NM_024577.4(SH3TC2):c.3168C>T (p.Leu1056=) rs200795092 0.00004
NM_024577.4(SH3TC2):c.3177A>G (p.Glu1059=) rs766282582 0.00004
NM_024577.4(SH3TC2):c.3180C>T (p.Asp1060=) rs780060168 0.00004
NM_024577.4(SH3TC2):c.32G>A (p.Arg11Gln) rs558800325 0.00004
NM_024577.4(SH3TC2):c.3360G>A (p.Lys1120=) rs967171497 0.00004
NM_024577.4(SH3TC2):c.3479-20C>T rs376784930 0.00004
NM_024577.4(SH3TC2):c.3610A>G (p.Lys1204Glu) rs571409696 0.00004
NM_024577.4(SH3TC2):c.3611A>G (p.Lys1204Arg) rs143436632 0.00004
NM_024577.4(SH3TC2):c.3675+5G>C rs1302647300 0.00004
NM_024577.4(SH3TC2):c.3736G>A (p.Asp1246Asn) rs753142542 0.00004
NM_024577.4(SH3TC2):c.806-11A>G rs904258121 0.00004
NM_024577.4(SH3TC2):c.86C>T (p.Ser29Leu) rs559570623 0.00004
NM_024577.4(SH3TC2):c.882C>T (p.Ser294=) rs200091368 0.00004
NM_024577.4(SH3TC2):c.*1006C>T rs886060185 0.00003
NM_024577.4(SH3TC2):c.*10573T>C rs886060136 0.00003
NM_024577.4(SH3TC2):c.*10984G>T rs868782614 0.00003
NM_024577.4(SH3TC2):c.*11160C>T rs886060132 0.00003
NM_024577.4(SH3TC2):c.*11927T>C rs75711075 0.00003
NM_024577.4(SH3TC2):c.*14315A>C rs762925324 0.00003
NM_024577.4(SH3TC2):c.*18824T>C rs1259040390 0.00003
NM_024577.4(SH3TC2):c.*19342A>G rs886060098 0.00003
NM_024577.4(SH3TC2):c.*1942del rs886060183 0.00003
NM_024577.4(SH3TC2):c.*210C>A rs886060192 0.00003
NM_024577.4(SH3TC2):c.*21118G>T rs886060095 0.00003
NM_024577.4(SH3TC2):c.*21149A>G rs552963495 0.00003
NM_024577.4(SH3TC2):c.*21281T>G rs528064272 0.00003
NM_024577.4(SH3TC2):c.*21532C>A rs763141563 0.00003
NM_024577.4(SH3TC2):c.*21955A>G rs575501943 0.00003
NM_024577.4(SH3TC2):c.*22199C>T rs778637809 0.00003
NM_024577.4(SH3TC2):c.*22505G>T rs1034634583 0.00003
NM_024577.4(SH3TC2):c.*3034A>C rs547028114 0.00003
NM_024577.4(SH3TC2):c.*3165G>A rs886060179 0.00003
NM_024577.4(SH3TC2):c.*3411C>T rs886060178 0.00003
NM_024577.4(SH3TC2):c.*4232G>A rs886060174 0.00003
NM_024577.4(SH3TC2):c.*5666A>G rs749263197 0.00003
NM_024577.4(SH3TC2):c.*7877A>G rs374095669 0.00003
NM_024577.4(SH3TC2):c.*8217A>G rs768467653 0.00003
NM_024577.4(SH3TC2):c.*8283A>T rs780934660 0.00003
NM_024577.4(SH3TC2):c.*932T>A rs886060186 0.00003
NM_024577.4(SH3TC2):c.*9980_*9981insTATT rs1554119372 0.00003
NM_024577.4(SH3TC2):c.1017C>T (p.Ala339=) rs201779392 0.00003
NM_024577.4(SH3TC2):c.1342G>C (p.Asp448His) rs587781252 0.00003
NM_024577.4(SH3TC2):c.164C>T (p.Ser55Phe) rs201291203 0.00003
NM_024577.4(SH3TC2):c.1654G>A (p.Glu552Lys) rs551953142 0.00003
NM_024577.4(SH3TC2):c.1947C>T (p.His649=) rs576049662 0.00003
NM_024577.4(SH3TC2):c.1972C>T (p.Arg658Cys) rs80338926 0.00003
NM_024577.4(SH3TC2):c.2023G>A (p.Val675Ile) rs764633604 0.00003
NM_024577.4(SH3TC2):c.2056C>T (p.Pro686Ser) rs767415595 0.00003
NM_024577.4(SH3TC2):c.2107G>A (p.Gly703Arg) rs912282924 0.00003
NM_024577.4(SH3TC2):c.223C>T (p.Arg75Trp) rs769679412 0.00003
NM_024577.4(SH3TC2):c.2254G>A (p.Asp752Asn) rs749008572 0.00003
NM_024577.4(SH3TC2):c.229C>T (p.Arg77Trp) rs185149793 0.00003
NM_024577.4(SH3TC2):c.2373T>A (p.Gly791=) rs187337223 0.00003
NM_024577.4(SH3TC2):c.2398C>T (p.Leu800Phe) rs764616291 0.00003
NM_024577.4(SH3TC2):c.2551C>T (p.Arg851Trp) rs144655516 0.00003
NM_024577.4(SH3TC2):c.2710C>T (p.Arg904Ter) rs80338931 0.00003
NM_024577.4(SH3TC2):c.279G>A (p.Lys93=) rs776221160 0.00003
NM_024577.4(SH3TC2):c.2861G>A (p.Arg954Gln) rs776426059 0.00003
NM_024577.4(SH3TC2):c.2873-4T>A rs771093927 0.00003
NM_024577.4(SH3TC2):c.2989C>T (p.Arg997Trp) rs763331671 0.00003
NM_024577.4(SH3TC2):c.3312A>G (p.Ala1104=) rs369131151 0.00003
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter) rs80338934 0.00003
NM_024577.4(SH3TC2):c.3363G>A (p.Ala1121=) rs547035706 0.00003
NM_024577.4(SH3TC2):c.3512G>T (p.Arg1171Leu) rs200728983 0.00003
NM_024577.4(SH3TC2):c.529+10G>A rs768567281 0.00003
NM_024577.4(SH3TC2):c.660G>C (p.Val220=) rs202052720 0.00003
NM_024577.4(SH3TC2):c.908C>A (p.Pro303His) rs778572329 0.00003
NM_024577.4(SH3TC2):c.929G>A (p.Gly310Glu) rs763949764 0.00003
NM_024577.4(SH3TC2):c.*12010C>A rs1221405889 0.00002
NM_024577.4(SH3TC2):c.*12126C>T rs886060124 0.00002
NM_024577.4(SH3TC2):c.*12653C>A rs886060121 0.00002
NM_024577.4(SH3TC2):c.*16257T>C rs572081330 0.00002
NM_024577.4(SH3TC2):c.*16855A>G rs886060108 0.00002
NM_024577.4(SH3TC2):c.*3707C>T rs548127285 0.00002
NM_024577.4(SH3TC2):c.*4409T>A rs886060173 0.00002
NM_024577.4(SH3TC2):c.*5305C>A rs886060170 0.00002
NM_024577.4(SH3TC2):c.*5576C>T rs886060168 0.00002
NM_024577.4(SH3TC2):c.*5747C>T rs886060166 0.00002
NM_024577.4(SH3TC2):c.*6682G>C rs557452648 0.00002
NM_024577.4(SH3TC2):c.*7064A>G rs1027337341 0.00002
NM_024577.4(SH3TC2):c.*8567G>A rs369239776 0.00002
NM_024577.4(SH3TC2):c.*9233T>A rs886060148 0.00002
NM_024577.4(SH3TC2):c.100G>A (p.Ala34Thr) rs1189763508 0.00002
NM_024577.4(SH3TC2):c.1096A>G (p.Thr366Ala) rs772832716 0.00002
NM_024577.4(SH3TC2):c.1129C>T (p.Arg377Trp) rs753775570 0.00002
NM_024577.4(SH3TC2):c.1136-12A>G rs367677521 0.00002
NM_024577.4(SH3TC2):c.1178-3C>T rs1380474010 0.00002
NM_024577.4(SH3TC2):c.1178-8C>T rs202042438 0.00002
NM_024577.4(SH3TC2):c.1254G>T (p.Gln418His) rs146997517 0.00002
NM_024577.4(SH3TC2):c.1284G>A (p.Glu428=) rs367691494 0.00002
NM_024577.4(SH3TC2):c.1349C>T (p.Pro450Leu) rs759614174 0.00002
NM_024577.4(SH3TC2):c.1390G>A (p.Ala464Thr) rs764054256 0.00002
NM_024577.4(SH3TC2):c.142A>G (p.Ile48Val) rs543440112 0.00002
NM_024577.4(SH3TC2):c.1586G>A (p.Arg529His) rs80338923 0.00002
NM_024577.4(SH3TC2):c.1813C>T (p.Arg605Cys) rs778936762 0.00002
NM_024577.4(SH3TC2):c.1830G>A (p.Lys610=) rs370025626 0.00002
NM_024577.4(SH3TC2):c.1843G>A (p.Val615Met) rs577783066 0.00002
NM_024577.4(SH3TC2):c.1854C>T (p.Tyr618=) rs1483284949 0.00002
NM_024577.4(SH3TC2):c.1942C>T (p.Arg648Trp) rs537049075 0.00002
NM_024577.4(SH3TC2):c.1968C>T (p.Ala656=) rs114797709 0.00002
NM_024577.4(SH3TC2):c.1969G>A (p.Glu657Lys) rs80338925 0.00002
NM_024577.4(SH3TC2):c.2096A>T (p.Gln699Leu) rs747615941 0.00002
NM_024577.4(SH3TC2):c.2258G>A (p.Arg753Gln) rs755570739 0.00002
NM_024577.4(SH3TC2):c.2578C>T (p.Leu860Phe) rs139958177 0.00002
NM_024577.4(SH3TC2):c.2671G>A (p.Ala891Thr) rs779223727 0.00002
NM_024577.4(SH3TC2):c.2873-3C>T rs749316605 0.00002
NM_024577.4(SH3TC2):c.2922C>T (p.Ser974=) rs755319616 0.00002
NM_024577.4(SH3TC2):c.2950C>A (p.His984Asn) rs747613156 0.00002
NM_024577.4(SH3TC2):c.2999A>C (p.Glu1000Ala) rs192187328 0.00002
NM_024577.4(SH3TC2):c.3024G>A (p.Gly1008=) rs771710493 0.00002
NM_024577.4(SH3TC2):c.3039C>A (p.Asn1013Lys) rs753381949 0.00002
NM_024577.4(SH3TC2):c.3103A>G (p.Ile1035Val) rs369953562 0.00002
NM_024577.4(SH3TC2):c.3190G>A (p.Glu1064Lys) rs756108498 0.00002
NM_024577.4(SH3TC2):c.3205-7C>T rs369262851 0.00002
NM_024577.4(SH3TC2):c.320C>A (p.Ala107Asp) rs1371951870 0.00002
NM_024577.4(SH3TC2):c.3293C>T (p.Thr1098Ile) rs199514987 0.00002
NM_024577.4(SH3TC2):c.330C>T (p.Leu110=) rs1305286171 0.00002
NM_024577.4(SH3TC2):c.3457G>T (p.Ala1153Ser) rs778351829 0.00002
NM_024577.4(SH3TC2):c.3479-5C>T rs768321650 0.00002
NM_024577.4(SH3TC2):c.3503C>T (p.Ala1168Val) rs372797350 0.00002
NM_024577.4(SH3TC2):c.3616G>A (p.Ala1206Thr) rs148831039 0.00002
NM_024577.4(SH3TC2):c.3650G>A (p.Gly1217Asp) rs758669363 0.00002
NM_024577.4(SH3TC2):c.3683A>G (p.His1228Arg) rs1163101801 0.00002
NM_024577.4(SH3TC2):c.3722C>T (p.Ala1241Val) rs141712019 0.00002
NM_024577.4(SH3TC2):c.3757A>G (p.Ile1253Val) rs147931490 0.00002
NM_024577.4(SH3TC2):c.3833C>T (p.Ala1278Val) rs374516818 0.00002
NM_024577.4(SH3TC2):c.436C>T (p.Leu146Phe) rs755754277 0.00002
NM_024577.4(SH3TC2):c.442T>G (p.Cys148Gly) rs748071430 0.00002
NM_024577.4(SH3TC2):c.530-12C>T rs374788786 0.00002
NM_024577.4(SH3TC2):c.543C>T (p.Cys181=) rs371302639 0.00002
NM_024577.4(SH3TC2):c.892A>G (p.Ile298Val) rs746615255 0.00002
NM_024577.4(SH3TC2):c.936G>A (p.Ser312=) rs918659172 0.00002
NM_024577.4(SH3TC2):c.*10079A>G rs886060142 0.00001
NM_024577.4(SH3TC2):c.*10672A>C rs1753463315 0.00001
NM_024577.4(SH3TC2):c.*1079T>C rs1753632252 0.00001
NM_024577.4(SH3TC2):c.*11054G>C rs886060134 0.00001
NM_024577.4(SH3TC2):c.*11055T>C rs886060133 0.00001
NM_024577.4(SH3TC2):c.*11593G>A rs886060129 0.00001
NM_024577.4(SH3TC2):c.*12469T>A rs886060122 0.00001
NM_024577.4(SH3TC2):c.*12637A>G rs536941130 0.00001
NM_024577.4(SH3TC2):c.*13292G>T rs1347035516 0.00001
NM_024577.4(SH3TC2):c.*14628C>T rs886060118 0.00001
NM_024577.4(SH3TC2):c.*15339G>A rs886060113 0.00001
NM_024577.4(SH3TC2):c.*15385A>G rs540944260 0.00001
NM_024577.4(SH3TC2):c.*15680T>C rs886060112 0.00001
NM_024577.4(SH3TC2):c.*16720T>G rs1753361070 0.00001
NM_024577.4(SH3TC2):c.*16905T>G rs886060105 0.00001
NM_024577.4(SH3TC2):c.*1787G>C rs139566698 0.00001
NM_024577.4(SH3TC2):c.*17934T>C rs1753339081 0.00001
NM_024577.4(SH3TC2):c.*18471A>G rs1753330424 0.00001
NM_024577.4(SH3TC2):c.*2065C>T rs190638676 0.00001
NM_024577.4(SH3TC2):c.*20787G>A rs76578570 0.00001
NM_024577.4(SH3TC2):c.*2341A>G rs531168193 0.00001
NM_024577.4(SH3TC2):c.*2624A>G rs762855152 0.00001
NM_024577.4(SH3TC2):c.*281A>G rs886060191 0.00001
NM_024577.4(SH3TC2):c.*2921G>A rs1293808777 0.00001
NM_024577.4(SH3TC2):c.*4920T>G rs550230926 0.00001
NM_024577.4(SH3TC2):c.*5820A>G rs1309341884 0.00001
NM_024577.4(SH3TC2):c.*5933G>A rs886060165 0.00001
NM_024577.4(SH3TC2):c.*6302T>A rs545169695 0.00001
NM_024577.4(SH3TC2):c.*651C>A rs1454230507 0.00001
NM_024577.4(SH3TC2):c.*6836T>C rs757138006 0.00001
NM_024577.4(SH3TC2):c.*8313G>A rs770951592 0.00001
NM_024577.4(SH3TC2):c.*9122G>A rs1430233185 0.00001
NM_024577.4(SH3TC2):c.*9445A>G rs1422098391 0.00001
NM_024577.4(SH3TC2):c.1002-5T>A rs769711653 0.00001
NM_024577.4(SH3TC2):c.1002-8C>T rs748766254 0.00001
NM_024577.4(SH3TC2):c.1006A>G (p.Arg336Gly) rs781032352 0.00001
NM_024577.4(SH3TC2):c.1029T>C (p.Asp343=) rs779061354 0.00001
NM_024577.4(SH3TC2):c.1130G>A (p.Arg377Gln) rs1450931349 0.00001
NM_024577.4(SH3TC2):c.1135+15T>G rs765853048 0.00001
NM_024577.4(SH3TC2):c.1140G>C (p.Gly380=) rs768932852 0.00001
NM_024577.4(SH3TC2):c.1177+14A>G rs1217015867 0.00001
NM_024577.4(SH3TC2):c.1196T>A (p.Phe399Tyr) rs763564639 0.00001
NM_024577.4(SH3TC2):c.11G>T (p.Cys4Phe) rs562967549 0.00001
NM_024577.4(SH3TC2):c.1217G>T (p.Arg406Ile) rs761907624 0.00001
NM_024577.4(SH3TC2):c.122A>G (p.Lys41Arg) rs759096245 0.00001
NM_024577.4(SH3TC2):c.1245G>A (p.Gly415=) rs748870159 0.00001
NM_024577.4(SH3TC2):c.1260C>A (p.Ser420Arg) rs766814812 0.00001
NM_024577.4(SH3TC2):c.1265C>T (p.Ser422Phe) rs754865697 0.00001
NM_024577.4(SH3TC2):c.1287G>A (p.Glu429=) rs1237348677 0.00001
NM_024577.4(SH3TC2):c.1305C>T (p.Thr435=) rs774971119 0.00001
NM_024577.4(SH3TC2):c.1311C>T (p.Asp437=) rs749587305 0.00001
NM_024577.4(SH3TC2):c.1319G>A (p.Arg440His) rs755748579 0.00001
NM_024577.4(SH3TC2):c.1320C>A (p.Arg440=) rs1361033420 0.00001
NM_024577.4(SH3TC2):c.1322T>C (p.Leu441Pro) rs1172985848 0.00001
NM_024577.4(SH3TC2):c.1325C>T (p.Pro442Leu) rs370613184 0.00001
NM_024577.4(SH3TC2):c.1335T>G (p.Asp445Glu) rs1234203055 0.00001
NM_024577.4(SH3TC2):c.1355T>C (p.Leu452Pro) rs1235312791 0.00001
NM_024577.4(SH3TC2):c.1383G>T (p.Glu461Asp) rs1326032447 0.00001
NM_024577.4(SH3TC2):c.1384G>T (p.Glu462Ter) rs749850181 0.00001
NM_024577.4(SH3TC2):c.1431G>A (p.Glu477=) rs887057321 0.00001
NM_024577.4(SH3TC2):c.1436A>G (p.Tyr479Cys) rs757167683 0.00001
NM_024577.4(SH3TC2):c.1448T>G (p.Phe483Cys) rs751644174 0.00001
NM_024577.4(SH3TC2):c.1460A>G (p.Tyr487Cys) rs763417948 0.00001
NM_024577.4(SH3TC2):c.1468T>G (p.Ser490Ala) rs372841815 0.00001
NM_024577.4(SH3TC2):c.151+11G>A rs773004267 0.00001
NM_024577.4(SH3TC2):c.152-14C>G rs1019701436 0.00001
NM_024577.4(SH3TC2):c.152-8T>A rs1350673664 0.00001
NM_024577.4(SH3TC2):c.1584C>T (p.Ala528=) rs762967613 0.00001
NM_024577.4(SH3TC2):c.1585C>T (p.Arg529Cys) rs750529207 0.00001
NM_024577.4(SH3TC2):c.1606C>T (p.Arg536Trp) rs777043032 0.00001
NM_024577.4(SH3TC2):c.1632C>G (p.Leu544=) rs771050155 0.00001
NM_024577.4(SH3TC2):c.1639G>A (p.Ala547Thr) rs1324539774 0.00001
NM_024577.4(SH3TC2):c.1641C>T (p.Ala547=) rs1265312422 0.00001
NM_024577.4(SH3TC2):c.1651T>C (p.Phe551Leu) rs1554121720 0.00001
NM_024577.4(SH3TC2):c.1763G>T (p.Gly588Val) rs760899669 0.00001
NM_024577.4(SH3TC2):c.179G>A (p.Ser60Asn) rs1436597179 0.00001
NM_024577.4(SH3TC2):c.182G>A (p.Arg61His) rs376389928 0.00001
NM_024577.4(SH3TC2):c.1832A>G (p.His611Arg) rs1252838387 0.00001
NM_024577.4(SH3TC2):c.183C>T (p.Arg61=) rs1754494929 0.00001
NM_024577.4(SH3TC2):c.1840G>A (p.Asp614Asn) rs201789838 0.00001
NM_024577.4(SH3TC2):c.1877T>C (p.Val626Ala) rs779061678 0.00001
NM_024577.4(SH3TC2):c.1889C>T (p.Pro630Leu) rs749260578 0.00001
NM_024577.4(SH3TC2):c.1915G>A (p.Ala639Thr) rs781671812 0.00001
NM_024577.4(SH3TC2):c.1978C>T (p.Gln660Ter) rs1554121665 0.00001
NM_024577.4(SH3TC2):c.2017G>A (p.Ala673Thr) rs201985394 0.00001
NM_024577.4(SH3TC2):c.2039A>G (p.Tyr680Cys) rs763952745 0.00001
NM_024577.4(SH3TC2):c.2041G>T (p.Asp681Tyr) rs1329516289 0.00001
NM_024577.4(SH3TC2):c.2083C>G (p.Gln695Glu) rs770170997 0.00001
NM_024577.4(SH3TC2):c.211C>T (p.Gln71Ter) rs864622663 0.00001
NM_024577.4(SH3TC2):c.2130G>A (p.Gln710=) rs763652479 0.00001
NM_024577.4(SH3TC2):c.2140G>C (p.Val714Leu) rs1303051798 0.00001
NM_024577.4(SH3TC2):c.214G>A (p.Glu72Lys) rs779075488 0.00001
NM_024577.4(SH3TC2):c.2247A>G (p.Glu749=) rs375251955 0.00001
NM_024577.4(SH3TC2):c.224G>A (p.Arg75Gln) rs749772988 0.00001
NM_024577.4(SH3TC2):c.2256C>G (p.Asp752Glu) rs897500539 0.00001
NM_024577.4(SH3TC2):c.2305G>A (p.Glu769Lys) rs764436192 0.00001
NM_024577.4(SH3TC2):c.2309A>G (p.His770Arg) rs926165676 0.00001
NM_024577.4(SH3TC2):c.230G>A (p.Arg77Gln) rs756666549 0.00001
NM_024577.4(SH3TC2):c.2317C>T (p.Pro773Ser) rs1416387782 0.00001
NM_024577.4(SH3TC2):c.2352G>T (p.Leu784Phe) rs754938951 0.00001
NM_024577.4(SH3TC2):c.2407G>A (p.Ala803Thr) rs377434575 0.00001
NM_024577.4(SH3TC2):c.2470T>C (p.Cys824Arg) rs1554121601 0.00001
NM_024577.4(SH3TC2):c.2506G>A (p.Gly836Arg) rs768389060 0.00001
NM_024577.4(SH3TC2):c.2516A>G (p.Tyr839Cys) rs202139757 0.00001
NM_024577.4(SH3TC2):c.2520C>T (p.Asn840=) rs371588176 0.00001
NM_024577.4(SH3TC2):c.2528G>A (p.Gly843Glu) rs1463859150 0.00001
NM_024577.4(SH3TC2):c.2528G>T (p.Gly843Val) rs1463859150 0.00001
NM_024577.4(SH3TC2):c.2535A>C (p.Ala845=) rs1406112399 0.00001
NM_024577.4(SH3TC2):c.2577T>A (p.Tyr859Ter) rs758871406 0.00001
NM_024577.4(SH3TC2):c.2581C>T (p.Arg861Trp) rs147490172 0.00001
NM_024577.4(SH3TC2):c.2607G>A (p.Val869=) rs771752979 0.00001
NM_024577.4(SH3TC2):c.2642A>G (p.Asn881Ser) rs80338930 0.00001
NM_024577.4(SH3TC2):c.264G>A (p.Val88=) rs1337938229 0.00001
NM_024577.4(SH3TC2):c.2674C>T (p.Gln892Ter) rs757797985 0.00001
NM_024577.4(SH3TC2):c.2749A>G (p.Met917Val) rs1232735360 0.00001
NM_024577.4(SH3TC2):c.2775G>A (p.Trp925Ter) rs757701609 0.00001
NM_024577.4(SH3TC2):c.279+1G>A rs1198337036 0.00001
NM_024577.4(SH3TC2):c.279+4A>G rs371909418 0.00001
NM_024577.4(SH3TC2):c.280-4G>A rs747321591 0.00001
NM_024577.4(SH3TC2):c.2818C>A (p.Leu940Ile) rs1380115510 0.00001
NM_024577.4(SH3TC2):c.2829T>G (p.Tyr943Ter) rs80338932 0.00001
NM_024577.4(SH3TC2):c.2872+13C>T rs1424568850 0.00001
NM_024577.4(SH3TC2):c.2872+19G>T rs569935040 0.00001
NM_024577.4(SH3TC2):c.2872+20C>T rs372528082 0.00001
NM_024577.4(SH3TC2):c.2873-16C>T rs1387099711 0.00001
NM_024577.4(SH3TC2):c.2894C>T (p.Ser965Phe) rs1220087441 0.00001
NM_024577.4(SH3TC2):c.2907C>T (p.Phe969=) rs1238822178 0.00001
NM_024577.4(SH3TC2):c.2951A>G (p.His984Arg) rs978452363 0.00001
NM_024577.4(SH3TC2):c.3034C>T (p.Arg1012Trp) rs541197556 0.00001
NM_024577.4(SH3TC2):c.3048C>T (p.Thr1016=) rs375266719 0.00001
NM_024577.4(SH3TC2):c.3097A>G (p.Ile1033Val) rs794727104 0.00001
NM_024577.4(SH3TC2):c.3116A>C (p.Glu1039Ala) rs777209545 0.00001
NM_024577.4(SH3TC2):c.3143T>C (p.Leu1048Pro) rs537759361 0.00001
NM_024577.4(SH3TC2):c.3149C>T (p.Ala1050Val) rs570067509 0.00001
NM_024577.4(SH3TC2):c.3157C>T (p.Leu1053Phe) rs772753479 0.00001
NM_024577.4(SH3TC2):c.3160C>T (p.His1054Tyr) rs769133498 0.00001
NM_024577.4(SH3TC2):c.3202C>T (p.Gln1068Ter) rs774698284 0.00001
NM_024577.4(SH3TC2):c.3204+17G>A rs377068951 0.00001
NM_024577.4(SH3TC2):c.3204+6C>T rs763394102 0.00001
NM_024577.4(SH3TC2):c.3211A>G (p.Ile1071Val) rs1753764548 0.00001
NM_024577.4(SH3TC2):c.3254A>G (p.Lys1085Arg) rs750149369 0.00001
NM_024577.4(SH3TC2):c.3283T>C (p.Phe1095Leu) rs1248817393 0.00001
NM_024577.4(SH3TC2):c.3286A>G (p.Asn1096Asp) rs1228973233 0.00001
NM_024577.4(SH3TC2):c.3295C>T (p.Arg1099Cys) rs769907612 0.00001
NM_024577.4(SH3TC2):c.3296G>A (p.Arg1099His) rs748413646 0.00001
NM_024577.4(SH3TC2):c.3308A>G (p.His1103Arg) rs780363659 0.00001
NM_024577.4(SH3TC2):c.3313G>A (p.Val1105Met) rs750746661 0.00001
NM_024577.4(SH3TC2):c.3332G>T (p.Gly1111Val) rs200801053 0.00001
NM_024577.4(SH3TC2):c.3340C>G (p.Pro1114Ala) rs757935041 0.00001
NM_024577.4(SH3TC2):c.3374A>G (p.Glu1125Gly) rs1169028062 0.00001
NM_024577.4(SH3TC2):c.3409A>G (p.Ile1137Val) rs913598475 0.00001
NM_024577.4(SH3TC2):c.3417C>T (p.Leu1139=) rs367649953 0.00001
NM_024577.4(SH3TC2):c.3511C>T (p.Arg1171Cys) rs759785462 0.00001
NM_024577.4(SH3TC2):c.3522A>G (p.Thr1174=) rs762263591 0.00001
NM_024577.4(SH3TC2):c.3526T>G (p.Tyr1176Asp) rs777028943 0.00001
NM_024577.4(SH3TC2):c.3531C>T (p.Tyr1177=) rs747405272 0.00001
NM_024577.4(SH3TC2):c.3538C>A (p.His1180Asn) rs201876002 0.00001
NM_024577.4(SH3TC2):c.3546T>C (p.Tyr1182=) rs757190448 0.00001
NM_024577.4(SH3TC2):c.3549G>A (p.Glu1183=) rs749235873 0.00001
NM_024577.4(SH3TC2):c.3596G>A (p.Trp1199Ter) rs761972717 0.00001
NM_024577.4(SH3TC2):c.3627T>A (p.Tyr1209Ter) rs1248359114 0.00001
NM_024577.4(SH3TC2):c.3676-15A>G rs770644656 0.00001
NM_024577.4(SH3TC2):c.3681C>T (p.Ala1227=) rs760036395 0.00001
NM_024577.4(SH3TC2):c.3682C>T (p.His1228Tyr) rs1371380897 0.00001
NM_024577.4(SH3TC2):c.3710C>T (p.Ala1237Val) rs778953792 0.00001
NM_024577.4(SH3TC2):c.3723G>A (p.Ala1241=) rs777895612 0.00001
NM_024577.4(SH3TC2):c.375C>A (p.Tyr125Ter) rs1754425732 0.00001
NM_024577.4(SH3TC2):c.3760A>G (p.Arg1254Gly) rs765921861 0.00001
NM_024577.4(SH3TC2):c.3761G>A (p.Arg1254Lys) rs1229941957 0.00001
NM_024577.4(SH3TC2):c.3818G>A (p.Cys1273Tyr) rs781625125 0.00001
NM_024577.4(SH3TC2):c.386-2A>C rs145670786 0.00001
NM_024577.4(SH3TC2):c.390C>T (p.Tyr130=) rs776623792 0.00001
NM_024577.4(SH3TC2):c.429G>A (p.Lys143=) rs748964376 0.00001
NM_024577.4(SH3TC2):c.443G>A (p.Cys148Tyr) rs1483097983 0.00001
NM_024577.4(SH3TC2):c.450G>C (p.Leu150Phe) rs542260900 0.00001
NM_024577.4(SH3TC2):c.509T>G (p.Leu170Arg) rs1754392249 0.00001
NM_024577.4(SH3TC2):c.529+1G>A rs769410348 0.00001
NM_024577.4(SH3TC2):c.53-3C>T rs771541595 0.00001
NM_024577.4(SH3TC2):c.559G>A (p.Val187Met) rs745613768 0.00001
NM_024577.4(SH3TC2):c.56A>G (p.Lys19Arg) rs778863028 0.00001
NM_024577.4(SH3TC2):c.574G>A (p.Glu192Lys) rs755054839 0.00001
NM_024577.4(SH3TC2):c.578A>G (p.Lys193Arg) rs569256459 0.00001
NM_024577.4(SH3TC2):c.579G>A (p.Lys193=) rs752087220 0.00001
NM_024577.4(SH3TC2):c.596C>T (p.Thr199Ile) rs368872316 0.00001
NM_024577.4(SH3TC2):c.629T>C (p.Met210Thr) rs1472681520 0.00001
NM_024577.4(SH3TC2):c.635A>G (p.Glu212Gly) rs774120657 0.00001
NM_024577.4(SH3TC2):c.646G>A (p.Glu216Lys) rs867509336 0.00001
NM_024577.4(SH3TC2):c.657C>T (p.Gly219=) rs781321213 0.00001
NM_024577.4(SH3TC2):c.658G>A (p.Val220Met) rs1428903431 0.00001
NM_024577.4(SH3TC2):c.680G>A (p.Arg227Gln) rs1257812868 0.00001
NM_024577.4(SH3TC2):c.702C>T (p.Ala234=) rs1242725383 0.00001
NM_024577.4(SH3TC2):c.708G>A (p.Glu236=) rs774923539 0.00001
NM_024577.4(SH3TC2):c.713T>G (p.Leu238Arg) rs1210345750 0.00001
NM_024577.4(SH3TC2):c.732-16A>G rs201017707 0.00001
NM_024577.4(SH3TC2):c.739C>G (p.Leu247Val) rs772820273 0.00001
NM_024577.4(SH3TC2):c.75T>A (p.Asp25Glu) rs755164059 0.00001
NM_024577.4(SH3TC2):c.789A>G (p.Thr263=) rs780777249 0.00001
NM_024577.4(SH3TC2):c.798T>G (p.Tyr266Ter) rs377509077 0.00001
NM_024577.4(SH3TC2):c.806-2A>G rs1041389207 0.00001
NM_024577.4(SH3TC2):c.815G>A (p.Arg272His) rs746737375 0.00001
NM_024577.4(SH3TC2):c.82G>C (p.Val28Leu) rs1399431033 0.00001
NM_024577.4(SH3TC2):c.830C>T (p.Thr277Met) rs757969875 0.00001
NM_024577.4(SH3TC2):c.855T>C (p.Asp285=) rs773193703 0.00001
NM_024577.4(SH3TC2):c.880A>T (p.Ser294Cys) rs748663288 0.00001
NM_024577.4(SH3TC2):c.89G>A (p.Ser30Asn) rs765890403 0.00001
NM_024577.4(SH3TC2):c.904A>G (p.Ile302Val) rs745345448 0.00001
NM_024577.4(SH3TC2):c.924C>A (p.Phe308Leu) rs753884201 0.00001
NM_024577.4(SH3TC2):c.945A>G (p.Ser315=) rs144520038 0.00001
NM_024577.4(SH3TC2):c.956G>T (p.Gly319Val) rs753423455 0.00001
NC_000005.10:g.(?_149040594)_(149040687_?)del
NC_000005.10:g.(?_149047842)_(149048009_?)del
NC_000005.9:g.(?_148360713)_(148443737_?)del
NC_000005.9:g.(?_148384274)_(148442585_?)dup
NC_000005.9:g.(?_148420147)_(148420260_?)del
NC_000005.9:g.(?_148426859)_(148427552_?)del
NM_024577.4(SH3TC2):c.*10006A>T rs201998002
NM_024577.4(SH3TC2):c.*10010A>T rs886060145
NM_024577.4(SH3TC2):c.*10018A>T rs866934630
NM_024577.4(SH3TC2):c.*10022A>T rs56245745
NM_024577.4(SH3TC2):c.*10051ACCA[13] rs57301725
NM_024577.4(SH3TC2):c.*10051ACCA[14] rs57301725
NM_024577.4(SH3TC2):c.*10051ACCA[16] rs57301725
NM_024577.4(SH3TC2):c.*10060C>A rs886060143
NM_024577.4(SH3TC2):c.*10068C>A rs1042787317
NM_024577.4(SH3TC2):c.*10083A>G rs886060141
NM_024577.4(SH3TC2):c.*10103A>T rs754724940
NM_024577.4(SH3TC2):c.*10111_*10114del rs777886659
NM_024577.4(SH3TC2):c.*10230A>C rs1246060970
NM_024577.4(SH3TC2):c.*10395A>G rs1753468263
NM_024577.4(SH3TC2):c.*10560T>C rs1753464929
NM_024577.4(SH3TC2):c.*10614G>A rs114217114
NM_024577.4(SH3TC2):c.*10756G>T rs886060135
NM_024577.4(SH3TC2):c.*10765A>G rs1753461440
NM_024577.4(SH3TC2):c.*10802A>T rs547788921
NM_024577.4(SH3TC2):c.*11299C>G rs547464453
NM_024577.4(SH3TC2):c.*11506C>T rs886060131
NM_024577.4(SH3TC2):c.*11803A>G rs1051316908
NM_024577.4(SH3TC2):c.*11934A>G rs1753442184
NM_024577.4(SH3TC2):c.*12009T>C rs1753441242
NM_024577.4(SH3TC2):c.*12108_*12110del rs35182601
NM_024577.4(SH3TC2):c.*12109_*12110dup rs35182601
NM_024577.4(SH3TC2):c.*12110dup rs35182601
NM_024577.4(SH3TC2):c.*12111_*12112insAA rs886060126
NM_024577.4(SH3TC2):c.*12114dup rs886060125
NM_024577.4(SH3TC2):c.*12442A>G rs56848629
NM_024577.4(SH3TC2):c.*12752T>A rs886060120
NM_024577.4(SH3TC2):c.*13037G>A rs769382913
NM_024577.4(SH3TC2):c.*13293T>C rs886060119
NM_024577.4(SH3TC2):c.*14182A>G rs374261707
NM_024577.4(SH3TC2):c.*14188C>T rs532583447
NM_024577.4(SH3TC2):c.*1421A>C rs1753627085
NM_024577.4(SH3TC2):c.*14397A>C rs1753401888
NM_024577.4(SH3TC2):c.*14450A>C rs758906397
NM_024577.4(SH3TC2):c.*14781C>A rs886060117
NM_024577.4(SH3TC2):c.*147A>T rs147796833
NM_024577.4(SH3TC2):c.*15049A>T rs575869408
NM_024577.4(SH3TC2):c.*15311del rs886060114
NM_024577.4(SH3TC2):c.*15483T>C rs971207143
NM_024577.4(SH3TC2):c.*15823T>A rs4562031
NM_024577.4(SH3TC2):c.*15877G>T rs868551923
NM_024577.4(SH3TC2):c.*16015G>T rs994438752
NM_024577.4(SH3TC2):c.*16174A>G rs1753370916
NM_024577.4(SH3TC2):c.*16293C>G rs1753368592
NM_024577.4(SH3TC2):c.*16402G>T rs1753366817
NM_024577.4(SH3TC2):c.*16507C>T rs886060111
NM_024577.4(SH3TC2):c.*16509A>G rs886060110
NM_024577.4(SH3TC2):c.*16557T>A rs1389655483
NM_024577.4(SH3TC2):c.*16711C>G rs886060109
NM_024577.4(SH3TC2):c.*16856CA[21] rs71957589
NM_024577.4(SH3TC2):c.*16856CA[22] rs71957589
NM_024577.4(SH3TC2):c.*16856CA[24] rs71957589
NM_024577.4(SH3TC2):c.*16856CA[26] rs71957589
NM_024577.4(SH3TC2):c.*16902G>A rs886060107
NM_024577.4(SH3TC2):c.*16953T>C rs948858895
NM_024577.4(SH3TC2):c.*17036C>G rs75086059
NM_024577.4(SH3TC2):c.*17036C>T rs75086059
NM_024577.4(SH3TC2):c.*17301T>A rs1012900530
NM_024577.4(SH3TC2):c.*17482A>G rs1753346855
NM_024577.4(SH3TC2):c.*17837T>G rs1753341216
NM_024577.4(SH3TC2):c.*18234G>A rs886060102
NM_024577.4(SH3TC2):c.*18483dup rs536826583
NM_024577.4(SH3TC2):c.*18635C>T rs886060101
NM_024577.4(SH3TC2):c.*19111G>T rs1753319859
NM_024577.4(SH3TC2):c.*19137C>G rs773138258
NM_024577.4(SH3TC2):c.*19182A>C rs886060100
NM_024577.4(SH3TC2):c.*19406A>G rs72835351
NM_024577.4(SH3TC2):c.*19406A>T rs72835351
NM_024577.4(SH3TC2):c.*1946_*1947del rs397883732
NM_024577.4(SH3TC2):c.*1979C>T rs886060181
NM_024577.4(SH3TC2):c.*20919_*20920del rs886060096
NM_024577.4(SH3TC2):c.*21087A>G rs1753287119
NM_024577.4(SH3TC2):c.*21119G>T rs1326174533
NM_024577.4(SH3TC2):c.*2141C>T rs535223944
NM_024577.4(SH3TC2):c.*21474AAAC[2] rs146796490
NM_024577.4(SH3TC2):c.*22035G>A rs544954149
NM_024577.4(SH3TC2):c.*22291T>C rs886060091
NM_024577.4(SH3TC2):c.*22552_*22553dup rs55932017
NM_024577.4(SH3TC2):c.*22553del rs55932017
NM_024577.4(SH3TC2):c.*22553dup rs55932017
NM_024577.4(SH3TC2):c.*2923A>G rs1033163196
NM_024577.4(SH3TC2):c.*3035C>A rs183531576
NM_024577.4(SH3TC2):c.*3246A>C rs73795732
NM_024577.4(SH3TC2):c.*3313G>A rs1753595247
NM_024577.4(SH3TC2):c.*3438T>C rs367587126
NM_024577.4(SH3TC2):c.*3464C>T rs753332922
NM_024577.4(SH3TC2):c.*3497G>A rs1753591981
NM_024577.4(SH3TC2):c.*3589G>T rs1044470297
NM_024577.4(SH3TC2):c.*3946C>A rs1753583783
NM_024577.4(SH3TC2):c.*4183T>C rs886060176
NM_024577.4(SH3TC2):c.*4209A>G rs886060175
NM_024577.4(SH3TC2):c.*4240C>A rs765837919
NM_024577.4(SH3TC2):c.*4975T>C rs1753565926
NM_024577.4(SH3TC2):c.*5020C>T rs371723580
NM_024577.4(SH3TC2):c.*5279del rs573168274
NM_024577.4(SH3TC2):c.*5350G>A rs1753560296
NM_024577.4(SH3TC2):c.*5419G>A rs886060169
NM_024577.4(SH3TC2):c.*5634C>A rs565468168
NM_024577.4(SH3TC2):c.*574A>C rs74964033
NM_024577.4(SH3TC2):c.*623T>C rs886060190
NM_024577.4(SH3TC2):c.*6382T>C rs528052888
NM_024577.4(SH3TC2):c.*6392C>A rs114817736
NM_024577.4(SH3TC2):c.*6392C>T rs114817736
NM_024577.4(SH3TC2):c.*6510G>A rs116056843
NM_024577.4(SH3TC2):c.*6563_*6564del rs368030230
NM_024577.4(SH3TC2):c.*6627C>T rs536731603
NM_024577.4(SH3TC2):c.*6870ACA[1] rs567997802
NM_024577.4(SH3TC2):c.*7016ATATT[1] rs886060164
NM_024577.4(SH3TC2):c.*7152G>A rs1753532056
NM_024577.4(SH3TC2):c.*7189C>G rs886060163
NM_024577.4(SH3TC2):c.*7197G>C rs886060162
NM_024577.4(SH3TC2):c.*7256A>C rs886060161
NM_024577.4(SH3TC2):c.*7285G>C rs886060160
NM_024577.4(SH3TC2):c.*7291G>A rs748202204
NM_024577.4(SH3TC2):c.*7394A>G rs886060158
NM_024577.4(SH3TC2):c.*7451C>T rs114534145
NM_024577.4(SH3TC2):c.*7570G>A rs886060157
NM_024577.4(SH3TC2):c.*8038A>G rs988158680
NM_024577.4(SH3TC2):c.*8077A>G rs886060156
NM_024577.4(SH3TC2):c.*8216T>C rs886060155
NM_024577.4(SH3TC2):c.*8261G>A rs1753511260
NM_024577.4(SH3TC2):c.*8349T>C rs565407418
NM_024577.4(SH3TC2):c.*8364C>T rs886060154
NM_024577.4(SH3TC2):c.*839del rs886060189
NM_024577.4(SH3TC2):c.*8423T>C rs10036103
NM_024577.4(SH3TC2):c.*8424CT[7] rs146811206
NM_024577.4(SH3TC2):c.*8424CT[9] rs146811206
NM_024577.4(SH3TC2):c.*858_*861del rs5872107
NM_024577.4(SH3TC2):c.*858_*862del rs1561755591
NM_024577.4(SH3TC2):c.*861dup rs5872107
NM_024577.4(SH3TC2):c.*8622del rs562125931
NM_024577.4(SH3TC2):c.*862del rs886060188
NM_024577.4(SH3TC2):c.*862dup rs886060187
NM_024577.4(SH3TC2):c.*8692T>C rs559844045
NM_024577.4(SH3TC2):c.*86C>T rs886060194
NM_024577.4(SH3TC2):c.*9121del rs886060149
NM_024577.4(SH3TC2):c.*9193A>G rs543374482
NM_024577.4(SH3TC2):c.*9340G>C rs886060147
NM_024577.4(SH3TC2):c.*9357T>C rs147996031
NM_024577.4(SH3TC2):c.*9357T>G rs147996031
NM_024577.4(SH3TC2):c.*9872T>C rs545698794
NM_024577.4(SH3TC2):c.*9974ATCC[11] rs201323132
NM_024577.4(SH3TC2):c.*9974ATCC[14] rs201323132
NM_024577.4(SH3TC2):c.*99G>A rs886060193
NM_024577.4(SH3TC2):c.1000A>G (p.Met334Val) rs139653980
NM_024577.4(SH3TC2):c.1001+5G>T rs1754315788
NM_024577.4(SH3TC2):c.1002-13del
NM_024577.4(SH3TC2):c.1005del (p.Ser335fs) rs2127398588
NM_024577.4(SH3TC2):c.1008G>A (p.Arg336=) rs1754196149
NM_024577.4(SH3TC2):c.101C>A (p.Ala34Asp) rs1444603403
NM_024577.4(SH3TC2):c.1031A>G (p.Glu344Gly) rs753849885
NM_024577.4(SH3TC2):c.1040G>C (p.Cys347Ser) rs1271507097
NM_024577.4(SH3TC2):c.1053C>A (p.Ala351=)
NM_024577.4(SH3TC2):c.1053C>T (p.Ala351=) rs754936070
NM_024577.4(SH3TC2):c.1057G>C (p.Gly353Arg) rs1299916015
NM_024577.4(SH3TC2):c.1061G>C (p.Ser354Thr)
NM_024577.4(SH3TC2):c.106T>C (p.Ser36Pro) rs1580917049
NM_024577.4(SH3TC2):c.1077G>A (p.Glu359=)
NM_024577.4(SH3TC2):c.1090del (p.Leu364fs) rs2127398558
NM_024577.4(SH3TC2):c.1102G>A (p.Ala368Thr) rs2127398548
NM_024577.4(SH3TC2):c.1106G>T (p.Arg369Leu) rs551803988
NM_024577.4(SH3TC2):c.1131G>T (p.Arg377=)
NM_024577.4(SH3TC2):c.1135+3G>A
NM_024577.4(SH3TC2):c.1136-10C>G
NM_024577.4(SH3TC2):c.1136-5C>T
NM_024577.4(SH3TC2):c.1136-6A>G
NM_024577.4(SH3TC2):c.1138G>A (p.Gly380Arg) rs761184149
NM_024577.4(SH3TC2):c.1152C>G (p.Ile384Met)
NM_024577.4(SH3TC2):c.1160C>T (p.Pro387Leu)
NM_024577.4(SH3TC2):c.1172T>C (p.Leu391Pro) rs141544031
NM_024577.4(SH3TC2):c.1177+16G>T
NM_024577.4(SH3TC2):c.1177+18T>A rs1454045139
NM_024577.4(SH3TC2):c.1177+5G>A rs1561765688
NM_024577.4(SH3TC2):c.1178-11T>C
NM_024577.4(SH3TC2):c.1178-14G>A
NM_024577.4(SH3TC2):c.1178-14G>T
NM_024577.4(SH3TC2):c.1178-15T>C
NM_024577.4(SH3TC2):c.1178-18C>T
NM_024577.4(SH3TC2):c.1178-1G>A rs80338922
NM_024577.4(SH3TC2):c.1178-4A>G rs2127397727
NM_024577.4(SH3TC2):c.1178-8C>A rs202042438
NM_024577.4(SH3TC2):c.1184A>C (p.Gln395Pro)
NM_024577.4(SH3TC2):c.1190A>G (p.Glu397Gly)
NM_024577.4(SH3TC2):c.1193_1194delinsCC (p.Gly398Ala) rs2127397715
NM_024577.4(SH3TC2):c.1194_1195delinsCC (p.Phe399Leu) rs1554121791
NM_024577.4(SH3TC2):c.1204G>C (p.Val402Leu) rs549821020
NM_024577.4(SH3TC2):c.1205T>C (p.Val402Ala)
NM_024577.4(SH3TC2):c.1209G>C (p.Arg403Ser) rs1212536660
NM_024577.4(SH3TC2):c.1211C>T (p.Pro404Leu) rs774001683
NM_024577.4(SH3TC2):c.1213G>T (p.Gly405Cys)
NM_024577.4(SH3TC2):c.1223G>T (p.Trp408Leu) rs777133915
NM_024577.4(SH3TC2):c.1228G>A (p.Glu410Lys) rs1309091718
NM_024577.4(SH3TC2):c.1228dup (p.Glu410fs)
NM_024577.4(SH3TC2):c.1233_1235dup (p.His411dup) rs886060198
NM_024577.4(SH3TC2):c.1244G>C (p.Gly415Ala) rs1561765509
NM_024577.4(SH3TC2):c.1244G>T (p.Gly415Val) rs1561765509
NM_024577.4(SH3TC2):c.1245G>T (p.Gly415=)
NM_024577.4(SH3TC2):c.1253A>C (p.Gln418Pro) rs1441405268
NM_024577.4(SH3TC2):c.1267G>T (p.Glu423Ter)
NM_024577.4(SH3TC2):c.1271A>C (p.Asp424Ala)
NM_024577.4(SH3TC2):c.1272C>G (p.Asp424Glu) rs377342074
NM_024577.4(SH3TC2):c.1273T>G (p.Ser425Ala) rs1469647354
NM_024577.4(SH3TC2):c.1275C>T (p.Ser425=)
NM_024577.4(SH3TC2):c.1285G>T (p.Glu429Ter) rs111995807
NM_024577.4(SH3TC2):c.1297T>C (p.Ser433Pro)
NM_024577.4(SH3TC2):c.1299G>C (p.Ser433=) rs140904010
NM_024577.4(SH3TC2):c.1300G>A (p.Ala434Thr) rs1368926236
NM_024577.4(SH3TC2):c.1305C>A (p.Thr435=)
NM_024577.4(SH3TC2):c.1306T>A (p.Ser436Thr) rs1754119445
NM_024577.4(SH3TC2):c.1311C>G (p.Asp437Glu) rs749587305
NM_024577.4(SH3TC2):c.1338C>A (p.Asp446Glu) rs1580901388
NM_024577.4(SH3TC2):c.1340T>C (p.Leu447Pro)
NM_024577.4(SH3TC2):c.1341T>G (p.Leu447=)
NM_024577.4(SH3TC2):c.1346A>G (p.Asp449Gly) rs1489505012
NM_024577.4(SH3TC2):c.1347C>A (p.Asp449Glu)
NM_024577.4(SH3TC2):c.1360A>G (p.Met454Val) rs1554121765
NM_024577.4(SH3TC2):c.1366del (p.Asp455_Leu456insTer) rs1580901363
NM_024577.4(SH3TC2):c.1373C>A (p.Thr458Asn) rs1234062925
NM_024577.4(SH3TC2):c.1378C>T (p.Gln460Ter) rs1580901350
NM_024577.4(SH3TC2):c.1391C>T (p.Ala464Val)
NM_024577.4(SH3TC2):c.1401C>A (p.Phe467Leu) rs150950962
NM_024577.4(SH3TC2):c.1402G>A (p.Ala468Thr)
NM_024577.4(SH3TC2):c.1402_1403delinsTT (p.Ala468Phe) rs863224780
NM_024577.4(SH3TC2):c.1405C>T (p.Pro469Ser) rs1370966250
NM_024577.4(SH3TC2):c.1406C>T (p.Pro469Leu)
NM_024577.4(SH3TC2):c.1407C>G (p.Pro469=)
NM_024577.4(SH3TC2):c.1408A>G (p.Ile470Val) rs779447016
NM_024577.4(SH3TC2):c.1408A>T (p.Ile470Leu)
NM_024577.4(SH3TC2):c.1422G>C (p.Leu474=) rs1201058981
NM_024577.4(SH3TC2):c.1427A>G (p.His476Arg) rs1673272488
NM_024577.4(SH3TC2):c.142A>T (p.Ile48Phe) rs543440112
NM_024577.4(SH3TC2):c.1440T>A (p.Ala480=)
NM_024577.4(SH3TC2):c.1451A>T (p.Lys484Met)
NM_024577.4(SH3TC2):c.1462_1465dup (p.Phe489Ter)
NM_024577.4(SH3TC2):c.1463A>G (p.Asp488Gly) rs1416723910
NM_024577.4(SH3TC2):c.1468T>C (p.Ser490Pro) rs372841815
NM_024577.4(SH3TC2):c.1469_1471del (p.Ser490del) rs755728218
NM_024577.4(SH3TC2):c.1488T>C (p.Ser496=)
NM_024577.4(SH3TC2):c.1490C>T (p.Ser497Phe) rs768299505
NM_024577.4(SH3TC2):c.1504T>C (p.Ser502Pro) rs1754109858
NM_024577.4(SH3TC2):c.151+15_151+16del rs569906096
NM_024577.4(SH3TC2):c.151+16A>G
NM_024577.4(SH3TC2):c.151+19C>T
NM_024577.4(SH3TC2):c.1512G>A (p.Glu504=) rs1580901194
NM_024577.4(SH3TC2):c.152-16C>T
NM_024577.4(SH3TC2):c.1520_1523del (p.Phe507fs) rs1561765311
NM_024577.4(SH3TC2):c.1531C>G (p.Leu511Val) rs1437440770
NM_024577.4(SH3TC2):c.1537G>T (p.Ala513Ser) rs1554121737
NM_024577.4(SH3TC2):c.1546A>T (p.Lys516Ter) rs2127397561
NM_024577.4(SH3TC2):c.154C>T (p.Leu52=) rs1243181790
NM_024577.4(SH3TC2):c.1550G>A (p.Trp517Ter)
NM_024577.4(SH3TC2):c.1556_1557insCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAANNNNNNNNNNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGTGGGCCAAG (p.Lys519delinsAsnGlyTrpIleMetArgSerGlyAspArgAspHisProGlyTer) rs2127397557
NM_024577.4(SH3TC2):c.1557_1558insGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAGTGGGCCAAG (p.Lys520delinsAlaGlyArgGlyGlySerCysLeuTer) rs2127397555
NM_024577.4(SH3TC2):c.1579C>T (p.His527Tyr)
NM_024577.4(SH3TC2):c.1583C>T (p.Ala528Val) rs537134516
NM_024577.4(SH3TC2):c.1584C>G (p.Ala528=) rs762967613
NM_024577.4(SH3TC2):c.1585_1587delinsTGG (p.Arg529Trp) rs863224781
NM_024577.4(SH3TC2):c.1586_1587delinsAG (p.Arg529Gln) rs863224454
NM_024577.4(SH3TC2):c.1589T>C (p.Leu530Pro)
NM_024577.4(SH3TC2):c.1596C>T (p.Phe532=)
NM_024577.4(SH3TC2):c.1597C>T (p.Leu533Phe) rs1554121725
NM_024577.4(SH3TC2):c.159A>G (p.Thr53=)
NM_024577.4(SH3TC2):c.1603_1611del (p.Gly535_Leu537del)
NM_024577.4(SH3TC2):c.160C>T (p.Leu54Phe) rs759220976
NM_024577.4(SH3TC2):c.1614C>T (p.Ser538=)
NM_024577.4(SH3TC2):c.1619G>A (p.Arg540Lys)
NM_024577.4(SH3TC2):c.1627A>G (p.Lys543Glu) rs2127397529
NM_024577.4(SH3TC2):c.1647G>A (p.Val549=)
NM_024577.4(SH3TC2):c.1654G>C (p.Glu552Gln) rs551953142
NM_024577.4(SH3TC2):c.165C>T (p.Ser55=)
NM_024577.4(SH3TC2):c.1662del (p.Ile555fs) rs863224520
NM_024577.4(SH3TC2):c.1679del (p.Gly560fs)
NM_024577.4(SH3TC2):c.1689G>C (p.Glu563Asp)
NM_024577.4(SH3TC2):c.1691A>G (p.Asp564Gly)
NM_024577.4(SH3TC2):c.1692C>T (p.Asp564=)
NM_024577.4(SH3TC2):c.1698C>T (p.Ser566=)
NM_024577.4(SH3TC2):c.169T>G (p.Cys57Gly)
NM_024577.4(SH3TC2):c.1712T>C (p.Leu571Pro) rs1580900970
NM_024577.4(SH3TC2):c.1717dup (p.Ile573fs)
NM_024577.4(SH3TC2):c.1719C>T (p.Ile573=)
NM_024577.4(SH3TC2):c.171T>C (p.Cys57=)
NM_024577.4(SH3TC2):c.172G>A (p.Val58Ile)
NM_024577.4(SH3TC2):c.1731C>T (p.Ala577=) rs2127397492
NM_024577.4(SH3TC2):c.1738C>A (p.Leu580Met) rs1561765207
NM_024577.4(SH3TC2):c.1747_1748del (p.Arg583fs) rs80338924
NM_024577.4(SH3TC2):c.1748G>C (p.Arg583Thr) rs757781673
NM_024577.4(SH3TC2):c.1749G>A (p.Arg583=)
NM_024577.4(SH3TC2):c.1754G>A (p.Arg585Lys) rs1754104023
NM_024577.4(SH3TC2):c.1782G>A (p.Lys594=) rs2127397464
NM_024577.4(SH3TC2):c.1794G>C (p.Leu598=) rs1554121710
NM_024577.4(SH3TC2):c.1797G>A (p.Leu599=) rs200332172
NM_024577.4(SH3TC2):c.1797G>T (p.Leu599=)
NM_024577.4(SH3TC2):c.1798G>A (p.Ala600Thr)
NM_024577.4(SH3TC2):c.1800C>T (p.Ala600=)
NM_024577.4(SH3TC2):c.1803C>T (p.Cys601=)
NM_024577.4(SH3TC2):c.1804del (p.Leu602fs) rs1319576439
NM_024577.4(SH3TC2):c.1806G>A (p.Leu602=)
NM_024577.4(SH3TC2):c.1823G>A (p.Ser608Asn)
NM_024577.4(SH3TC2):c.1827C>A (p.Ala609=) rs373737817
NM_024577.4(SH3TC2):c.1829dup (p.His611fs)
NM_024577.4(SH3TC2):c.1831C>A (p.His611Asn) rs886060197
NM_024577.4(SH3TC2):c.1834G>T (p.Glu612Ter)
NM_024577.4(SH3TC2):c.1837C>T (p.Leu613Phe)
NM_024577.4(SH3TC2):c.1840G>T (p.Asp614Tyr) rs201789838
NM_024577.4(SH3TC2):c.1845G>A (p.Val615=) rs914238218
NM_024577.4(SH3TC2):c.1849G>A (p.Ala617Thr)
NM_024577.4(SH3TC2):c.1855G>A (p.Val619Met)
NM_024577.4(SH3TC2):c.1856T>A (p.Val619Glu) rs1196218767
NM_024577.4(SH3TC2):c.1868_1869del (p.Gly623fs) rs1554121691
NM_024577.4(SH3TC2):c.1869G>T (p.Gly623=) rs1219611610
NM_024577.4(SH3TC2):c.1875G>A (p.Val625=)
NM_024577.4(SH3TC2):c.1876G>T (p.Val626Leu) rs1311201400
NM_024577.4(SH3TC2):c.187A>G (p.Arg63Gly)
NM_024577.4(SH3TC2):c.1880G>A (p.Gly627Asp) rs1380546665
NM_024577.4(SH3TC2):c.1894G>A (p.Glu632Lys) rs1580900765
NM_024577.4(SH3TC2):c.1894_1897delinsAAA (p.Glu632fs) rs1580900758
NM_024577.4(SH3TC2):c.1896G>A (p.Glu632=)
NM_024577.4(SH3TC2):c.1897del (p.Ala633fs) rs1064797314
NM_024577.4(SH3TC2):c.18C>T (p.Cys6=)
NM_024577.4(SH3TC2):c.1905C>T (p.Ala635=) rs2127397406
NM_024577.4(SH3TC2):c.1915del (p.Ala639fs) rs1580900732
NM_024577.4(SH3TC2):c.191G>A (p.Arg64Lys)
NM_024577.4(SH3TC2):c.1922G>T (p.Arg641Leu) rs199991156
NM_024577.4(SH3TC2):c.1923C>T (p.Arg641=)
NM_024577.4(SH3TC2):c.1929C>T (p.Leu643=)
NM_024577.4(SH3TC2):c.192G>T (p.Arg64Ser) rs571440448
NM_024577.4(SH3TC2):c.1941C>T (p.Gly647=)
NM_024577.4(SH3TC2):c.1943G>A (p.Arg648Gln) rs149077357
NM_024577.4(SH3TC2):c.1944G>T (p.Arg648=)
NM_024577.4(SH3TC2):c.1948G>A (p.Glu650Lys)
NM_024577.4(SH3TC2):c.1960C>T (p.Pro654Ser) rs1754098320
NM_024577.4(SH3TC2):c.1982T>C (p.Leu661Pro) rs80338927
NM_024577.4(SH3TC2):c.1983C>T (p.Leu661=)
NM_024577.4(SH3TC2):c.1985T>C (p.Leu662Pro) rs1580900642
NM_024577.4(SH3TC2):c.1988C>G (p.Ser663Cys) rs1754097515
NM_024577.4(SH3TC2):c.1992A>G (p.Gly664=) rs1380437828
NM_024577.4(SH3TC2):c.1995C>T (p.His665=) rs751912297
NM_024577.4(SH3TC2):c.1996C>T (p.Pro666Ser)
NM_024577.4(SH3TC2):c.1998_1999del (p.Pro667fs)
NM_024577.4(SH3TC2):c.1A>G (p.Met1Val) rs864309709
NM_024577.4(SH3TC2):c.2004del (p.Ser669fs) rs1754097044
NM_024577.4(SH3TC2):c.2007T>C (p.Ser669=)
NM_024577.4(SH3TC2):c.200A>G (p.Asn67Ser) rs772378888
NM_024577.4(SH3TC2):c.2015T>C (p.Val672Ala) rs1754096756
NM_024577.4(SH3TC2):c.2027T>C (p.Leu676Ser)
NM_024577.4(SH3TC2):c.2036T>G (p.Leu679Arg) rs1754096264
NM_024577.4(SH3TC2):c.2037G>A (p.Leu679=)
NM_024577.4(SH3TC2):c.2039dup (p.Tyr680Ter)
NM_024577.4(SH3TC2):c.2051A>G (p.Tyr684Cys)
NM_024577.4(SH3TC2):c.2060A>G (p.His687Arg) rs1171441665
NM_024577.4(SH3TC2):c.2062C>A (p.Leu688Ile) rs773433720
NM_024577.4(SH3TC2):c.2070G>A (p.Val690=)
NM_024577.4(SH3TC2):c.2072_2090del (p.Ala691fs) rs878855092
NM_024577.4(SH3TC2):c.2083C>T (p.Gln695Ter) rs770170997
NM_024577.4(SH3TC2):c.2089G>A (p.Gly697Ser)
NM_024577.4(SH3TC2):c.2090G>T (p.Gly697Val) rs2127397326
NM_024577.4(SH3TC2):c.2094C>T (p.Ile698=) rs886060196
NM_024577.4(SH3TC2):c.2095C>T (p.Gln699Ter) rs1754094644
NM_024577.4(SH3TC2):c.2109G>C (p.Gly703=) rs758849704
NM_024577.4(SH3TC2):c.2116C>A (p.Leu706Ile) rs1317532477
NM_024577.4(SH3TC2):c.2124T>A (p.Ile708=) rs2127397311
NM_024577.4(SH3TC2):c.2133C>G (p.Val711=) rs986521742
NM_024577.4(SH3TC2):c.2136C>T (p.His712=) rs190680171
NM_024577.4(SH3TC2):c.2145C>T (p.Leu715=) rs1421062539
NM_024577.4(SH3TC2):c.2146C>T (p.Gln716Ter) rs1561764925
NM_024577.4(SH3TC2):c.2151C>T (p.Asn717=)
NM_024577.4(SH3TC2):c.217_227delinsCCAGTAA (p.Ala73fs) rs80338919
NM_024577.4(SH3TC2):c.2184C>A (p.Gly728=) rs1754092804
NM_024577.4(SH3TC2):c.2189del (p.Gly730fs) rs1580900473
NM_024577.4(SH3TC2):c.2198C>A (p.Ser733Tyr) rs2127397284
NM_024577.4(SH3TC2):c.2199T>A (p.Ser733=) rs1220210982
NM_024577.4(SH3TC2):c.21C>G (p.Ile7Met)
NM_024577.4(SH3TC2):c.2201C>T (p.Ala734Val)
NM_024577.4(SH3TC2):c.2211C>A (p.Cys737Ter) rs1318388071
NM_024577.4(SH3TC2):c.2211_2213del (p.Cys737_Pro738delinsTer) rs1580900438
NM_024577.4(SH3TC2):c.2218C>T (p.Leu740Phe) rs2127397272
NM_024577.4(SH3TC2):c.2226G>A (p.Gln742=) rs1580900427
NM_024577.4(SH3TC2):c.2228C>G (p.Ala743Gly) rs974346945
NM_024577.4(SH3TC2):c.2230C>G (p.Leu744Val) rs962648069
NM_024577.4(SH3TC2):c.2241T>C (p.Cys747=) rs779264091
NM_024577.4(SH3TC2):c.2253_2256dup (p.Ser754fs)
NM_024577.4(SH3TC2):c.2262C>T (p.Ser754=)
NM_024577.4(SH3TC2):c.2263A>C (p.Thr755Pro) rs1332446150
NM_024577.4(SH3TC2):c.2263A>G (p.Thr755Ala) rs1332446150
NM_024577.4(SH3TC2):c.2275C>A (p.Leu759Met) rs1754090424
NM_024577.4(SH3TC2):c.227G>C (p.Arg76Thr) rs1754493155
NM_024577.4(SH3TC2):c.2285T>C (p.Ile762Thr) rs751351645
NM_024577.4(SH3TC2):c.2288T>C (p.Leu763Pro) rs1580900331
NM_024577.4(SH3TC2):c.2297T>C (p.Val766Ala)
NM_024577.4(SH3TC2):c.2299T>C (p.Tyr767His) rs2127397225
NM_024577.4(SH3TC2):c.229C>A (p.Arg77=) rs185149793
NM_024577.4(SH3TC2):c.2302C>T (p.Leu768Phe)
NM_024577.4(SH3TC2):c.2311A>G (p.Arg771Gly) rs1754089250
NM_024577.4(SH3TC2):c.2331C>A (p.Ile777=)
NM_024577.4(SH3TC2):c.233_239del (p.Leu78fs) rs2127402263
NM_024577.4(SH3TC2):c.2362C>A (p.Gln788Lys)
NM_024577.4(SH3TC2):c.2368C>T (p.Leu790=) rs2127397177
NM_024577.4(SH3TC2):c.2386T>C (p.Phe796Leu)
NM_024577.4(SH3TC2):c.2389del (p.Glu797fs)
NM_024577.4(SH3TC2):c.2398C>G (p.Leu800Val)
NM_024577.4(SH3TC2):c.239C>A (p.Ala80Glu)
NM_024577.4(SH3TC2):c.2400C>A (p.Leu800=)
NM_024577.4(SH3TC2):c.2410T>G (p.Trp804Gly)
NM_024577.4(SH3TC2):c.2411G>C (p.Trp804Ser)
NM_024577.4(SH3TC2):c.2414C>T (p.Ala805Val)
NM_024577.4(SH3TC2):c.2418T>G (p.Tyr806Ter) rs1561764735
NM_024577.4(SH3TC2):c.2429G>A (p.Ser810Asn)
NM_024577.4(SH3TC2):c.2431C>T (p.Gln811Ter) rs1580900150
NM_024577.4(SH3TC2):c.2433G>T (p.Gln811His) rs746538256
NM_024577.4(SH3TC2):c.243G>A (p.Leu81=)
NM_024577.4(SH3TC2):c.2458G>A (p.Glu820Lys) rs1754083548
NM_024577.4(SH3TC2):c.2464C>T (p.Leu822=) rs752906301
NM_024577.4(SH3TC2):c.2489_2492del (p.Glu830fs) rs80338929
NM_024577.4(SH3TC2):c.2491_2492del (p.Leu832fs) rs80338929
NM_024577.4(SH3TC2):c.2514C>T (p.Ile838=)
NM_024577.4(SH3TC2):c.2534C>T (p.Ala845Val)
NM_024577.4(SH3TC2):c.2538C>T (p.Leu846=)
NM_024577.4(SH3TC2):c.253del (p.Asp85fs) rs1580914356
NM_024577.4(SH3TC2):c.2544T>G (p.Gly848=)
NM_024577.4(SH3TC2):c.2549G>C (p.Gly850Ala) rs749133472
NM_024577.4(SH3TC2):c.254A>T (p.Asp85Val) rs567173388
NM_024577.4(SH3TC2):c.2551C>G (p.Arg851Gly)
NM_024577.4(SH3TC2):c.2551_2552delinsAA (p.Arg851Lys)
NM_024577.4(SH3TC2):c.2551_2554dup (p.Val852fs) rs1754081385
NM_024577.4(SH3TC2):c.2554G>A (p.Val852Met) rs1754081317
NM_024577.4(SH3TC2):c.2555T>G (p.Val852Gly)
NM_024577.4(SH3TC2):c.255C>T (p.Asp85=) rs886060199
NM_024577.4(SH3TC2):c.2560A>C (p.Arg854=)
NM_024577.4(SH3TC2):c.2576A>G (p.Tyr859Cys)
NM_024577.4(SH3TC2):c.2578C>G (p.Leu860Val) rs139958177
NM_024577.4(SH3TC2):c.2580T>C (p.Leu860=)
NM_024577.4(SH3TC2):c.2582G>C (p.Arg861Pro) rs142971473
NM_024577.4(SH3TC2):c.2586C>T (p.Ala862=)
NM_024577.4(SH3TC2):c.2598C>T (p.Ala866=)
NM_024577.4(SH3TC2):c.2599C>T (p.Gln867Ter) rs2127397072
NM_024577.4(SH3TC2):c.2600A>T (p.Gln867Leu)
NM_024577.4(SH3TC2):c.2609G>A (p.Gly870Glu) rs1754079774
NM_024577.4(SH3TC2):c.2615T>C (p.Val872Ala)
NM_024577.4(SH3TC2):c.2633C>A (p.Ala878Asp) rs1580899932
NM_024577.4(SH3TC2):c.2634T>C (p.Ala878=)
NM_024577.4(SH3TC2):c.2640del (p.Asn881fs) rs1561764569
NM_024577.4(SH3TC2):c.2642A>T (p.Asn881Ile) rs80338930
NM_024577.4(SH3TC2):c.2657G>A (p.Ser886Asn) rs780085307
NM_024577.4(SH3TC2):c.2664G>A (p.Lys888=)
NM_024577.4(SH3TC2):c.2664G>T (p.Lys888Asn)
NM_024577.4(SH3TC2):c.266G>T (p.Arg89Leu) rs189591944
NM_024577.4(SH3TC2):c.2717A>G (p.Tyr906Cys)
NM_024577.4(SH3TC2):c.2718T>C (p.Tyr906=) rs148073022
NM_024577.4(SH3TC2):c.2738A>G (p.Lys913Arg) rs2127397025
NM_024577.4(SH3TC2):c.2744C>T (p.Thr915Ile) rs1754076431
NM_024577.4(SH3TC2):c.275T>C (p.Phe92Ser) rs2127402247
NM_024577.4(SH3TC2):c.2760A>G (p.Val920=)
NM_024577.4(SH3TC2):c.2780C>T (p.Ala927Val) rs1754076016
NM_024577.4(SH3TC2):c.2785G>C (p.Val929Leu) rs2127397007
NM_024577.4(SH3TC2):c.2787T>C (p.Val929=)
NM_024577.4(SH3TC2):c.279+13G>C
NM_024577.4(SH3TC2):c.279+17C>T rs991958791
NM_024577.4(SH3TC2):c.279+20G>C
NM_024577.4(SH3TC2):c.279+6_279+19dup
NM_024577.4(SH3TC2):c.2790G>C (p.Leu930=)
NM_024577.4(SH3TC2):c.280-1334dup rs752479043
NM_024577.4(SH3TC2):c.280-16T>A rs2127401469
NM_024577.4(SH3TC2):c.280-18A>G rs1349104801
NM_024577.4(SH3TC2):c.280-2A>G rs1561770798
NM_024577.4(SH3TC2):c.280-3T>C
NM_024577.4(SH3TC2):c.2814T>C (p.His938=)
NM_024577.4(SH3TC2):c.2818C>T (p.Leu940Phe) rs1380115510
NM_024577.4(SH3TC2):c.282C>G (p.Asp94Glu) rs1453743523
NM_024577.4(SH3TC2):c.2833A>G (p.Met945Val)
NM_024577.4(SH3TC2):c.2836G>T (p.Ala946Ser) rs765951062
NM_024577.4(SH3TC2):c.2838_2850dup (p.Leu951fs) rs2127396985
NM_024577.4(SH3TC2):c.283C>T (p.Leu95Phe) rs541695222
NM_024577.4(SH3TC2):c.2849G>T (p.Gly950Val) rs1754074456
NM_024577.4(SH3TC2):c.2853A>G (p.Leu951=)
NM_024577.4(SH3TC2):c.2856G>A (p.Arg952=)
NM_024577.4(SH3TC2):c.2859T>A (p.His953Gln)
NM_024577.4(SH3TC2):c.2864A>C (p.His955Pro) rs1754073175
NM_024577.4(SH3TC2):c.2864A>T (p.His955Leu)
NM_024577.4(SH3TC2):c.2872+11C>T
NM_024577.4(SH3TC2):c.2872+14A>G rs1374170282
NM_024577.4(SH3TC2):c.2872+4_2872+7del rs1754073023
NM_024577.4(SH3TC2):c.2873-10T>A rs1754070727
NM_024577.4(SH3TC2):c.2873-14T>A rs1580899613
NM_024577.4(SH3TC2):c.2873-17C>T rs1754070873
NM_024577.4(SH3TC2):c.2873G>A (p.Ser958Asn) rs1205847384
NM_024577.4(SH3TC2):c.287C>T (p.Ser96Leu) rs2127401458
NM_024577.4(SH3TC2):c.2884G>C (p.Ala962Pro)
NM_024577.4(SH3TC2):c.2887A>G (p.Thr963Ala)
NM_024577.4(SH3TC2):c.2888C>T (p.Thr963Ile)
NM_024577.4(SH3TC2):c.2897T>C (p.Leu966Pro) rs1060501469
NM_024577.4(SH3TC2):c.289G>A (p.Ala97Thr) rs562689036
NM_024577.4(SH3TC2):c.28del (p.Glu10fs) rs80338918
NM_024577.4(SH3TC2):c.2904T>C (p.His968=) rs2127396907
NM_024577.4(SH3TC2):c.2909A>G (p.Tyr970Cys)
NM_024577.4(SH3TC2):c.2910C>A (p.Tyr970Ter)
NM_024577.4(SH3TC2):c.2923C>G (p.Pro975Ala) rs1554121529
NM_024577.4(SH3TC2):c.2935G>T (p.Ala979Ser) rs369258246
NM_024577.4(SH3TC2):c.2942_2944dup (p.Ile981dup) rs2127396888
NM_024577.4(SH3TC2):c.2957A>G (p.His986Arg) rs1580899530
NM_024577.4(SH3TC2):c.295T>A (p.Leu99Met) rs1561770787
NM_024577.4(SH3TC2):c.2962C>A (p.Leu988Met) rs763964456
NM_024577.4(SH3TC2):c.2965G>A (p.Ala989Thr)
NM_024577.4(SH3TC2):c.2981T>C (p.Leu994Pro) rs2127396874
NM_024577.4(SH3TC2):c.2989del (p.Arg997fs) rs1174949678
NM_024577.4(SH3TC2):c.2991G>A (p.Arg997=)
NM_024577.4(SH3TC2):c.2995A>G (p.Met999Val)
NM_024577.4(SH3TC2):c.3006G>T (p.Arg1002Ser)
NM_024577.4(SH3TC2):c.3013G>T (p.Glu1005Ter) rs147895061
NM_024577.4(SH3TC2):c.3018C>T (p.Ser1006=)
NM_024577.4(SH3TC2):c.3023G>C (p.Gly1008Ala) rs2127396858
NM_024577.4(SH3TC2):c.3028C>T (p.Leu1010Phe) rs1243271992
NM_024577.4(SH3TC2):c.3040del (p.Asn1013_Leu1014insTer)
NM_024577.4(SH3TC2):c.304A>G (p.Ile102Val) rs2127401449
NM_024577.4(SH3TC2):c.3053+11G>T
NM_024577.4(SH3TC2):c.3054-13T>C
NM_024577.4(SH3TC2):c.3054-2A>C rs1580891465
NM_024577.4(SH3TC2):c.3054-2A>G
NM_024577.4(SH3TC2):c.3060C>T (p.Leu1020=)
NM_024577.4(SH3TC2):c.3078C>A (p.Cys1026Ter) rs2127393407
NM_024577.4(SH3TC2):c.307C>T (p.Gln103Ter)
NM_024577.4(SH3TC2):c.308A>T (p.Gln103Leu)
NM_024577.4(SH3TC2):c.3093G>A (p.Leu1031=)
NM_024577.4(SH3TC2):c.3099C>G (p.Ile1033Met) rs1554120576
NM_024577.4(SH3TC2):c.30G>T (p.Glu10Asp) rs755666455
NM_024577.4(SH3TC2):c.3110T>A (p.Leu1037Gln) rs1580891410
NM_024577.4(SH3TC2):c.3117G>C (p.Glu1039Asp)
NM_024577.4(SH3TC2):c.311C>G (p.Ser104Cys)
NM_024577.4(SH3TC2):c.3132T>C (p.Ala1044=)
NM_024577.4(SH3TC2):c.3141del (p.Trp1047fs)
NM_024577.4(SH3TC2):c.3146G>T (p.Gly1049Val) rs2127393379
NM_024577.4(SH3TC2):c.3147G>A (p.Gly1049=)
NM_024577.4(SH3TC2):c.3154C>T (p.Arg1052Ter) rs370115218
NM_024577.4(SH3TC2):c.3155G>A (p.Arg1052Gln)
NM_024577.4(SH3TC2):c.315G>C (p.Gln105His) rs1754426829
NM_024577.4(SH3TC2):c.3175G>A (p.Glu1059Lys)
NM_024577.4(SH3TC2):c.3181G>A (p.Glu1061Lys) rs760656119
NM_024577.4(SH3TC2):c.3183G>A (p.Glu1061=) rs1237080220
NM_024577.4(SH3TC2):c.3203A>G (p.Gln1068Arg)
NM_024577.4(SH3TC2):c.3204+16A>T
NM_024577.4(SH3TC2):c.3204+5G>A rs1753801589
NM_024577.4(SH3TC2):c.3204+7C>A
NM_024577.4(SH3TC2):c.3205-20G>A
NM_024577.4(SH3TC2):c.3205-2A>G rs2127392891
NM_024577.4(SH3TC2):c.3212T>C (p.Ile1071Thr)
NM_024577.4(SH3TC2):c.3213C>T (p.Ile1071=) rs1753764451
NM_024577.4(SH3TC2):c.322_324del (p.Gln108del)
NM_024577.4(SH3TC2):c.3233_3234del (p.Glu1078fs) rs1580889962
NM_024577.4(SH3TC2):c.3234G>A (p.Glu1078=)
NM_024577.4(SH3TC2):c.323A>G (p.Gln108Arg)
NM_024577.4(SH3TC2):c.3269C>G (p.Ala1090Gly)
NM_024577.4(SH3TC2):c.3277G>A (p.Val1093Met) rs2127392867
NM_024577.4(SH3TC2):c.3291G>C (p.Gly1097=) rs775530482
NM_024577.4(SH3TC2):c.3291del (p.Thr1098fs) rs1580889913
NM_024577.4(SH3TC2):c.3295dup (p.Arg1099fs) rs1580889900
NM_024577.4(SH3TC2):c.3297C>T (p.Arg1099=)
NM_024577.4(SH3TC2):c.3303G>A (p.Arg1101=) rs755006924
NM_024577.4(SH3TC2):c.3303del (p.Arg1101fs) rs864622664
NM_024577.4(SH3TC2):c.3305del (p.His1102fs) rs1580889892
NM_024577.4(SH3TC2):c.3316G>A (p.Glu1106Lys)
NM_024577.4(SH3TC2):c.3318G>A (p.Glu1106=) rs1412557262
NM_024577.4(SH3TC2):c.3321C>A (p.Tyr1107Ter) rs1580889866
NM_024577.4(SH3TC2):c.3326G>C (p.Arg1109Pro) rs80338935
NM_024577.4(SH3TC2):c.3327+16G>A
NM_024577.4(SH3TC2):c.3327+1G>A rs2127392839
NM_024577.4(SH3TC2):c.3327+6T>G
NM_024577.4(SH3TC2):c.3328-12T>A
NM_024577.4(SH3TC2):c.3328-1G>T rs1554120331
NM_024577.4(SH3TC2):c.3328-7T>C rs2127392520
NM_024577.4(SH3TC2):c.3328-9T>C rs1753738303
NM_024577.4(SH3TC2):c.3341del (p.Pro1114fs) rs80338936
NM_024577.4(SH3TC2):c.3362C>A (p.Ala1121Glu) rs115577291
NM_024577.4(SH3TC2):c.3364G>A (p.Val1122Met) rs1554120326
NM_024577.4(SH3TC2):c.3371C>T (p.Thr1124Ile) rs752094727
NM_024577.4(SH3TC2):c.3372T>C (p.Thr1124=)
NM_024577.4(SH3TC2):c.3379C>T (p.Arg1127Trp) rs1580888993
NM_024577.4(SH3TC2):c.3384T>A (p.Ile1128=)
NM_024577.4(SH3TC2):c.3386T>C (p.Phe1129Ser)
NM_024577.4(SH3TC2):c.3418G>A (p.Glu1140Lys)
NM_024577.4(SH3TC2):c.3425_3435del (p.Tyr1142fs) rs1222150652
NM_024577.4(SH3TC2):c.3432G>A (p.Lys1144=) rs1580888944
NM_024577.4(SH3TC2):c.3433G>C (p.Ala1145Pro) rs141715248
NM_024577.4(SH3TC2):c.3433G>T (p.Ala1145Ser) rs141715248
NM_024577.4(SH3TC2):c.3438G>A (p.Leu1146=) rs2127392467
NM_024577.4(SH3TC2):c.343A>C (p.Thr115Pro)
NM_024577.4(SH3TC2):c.3443T>C (p.Phe1148Ser) rs1753736056
NM_024577.4(SH3TC2):c.3457G>A (p.Ala1153Thr) rs778351829
NM_024577.4(SH3TC2):c.3472dup (p.Val1158fs) rs2127392454
NM_024577.4(SH3TC2):c.3478+14A>C
NM_024577.4(SH3TC2):c.3478+2T>G rs2127392445
NM_024577.4(SH3TC2):c.3478+4G>A
NM_024577.4(SH3TC2):c.3479-8A>C
NM_024577.4(SH3TC2):c.3491A>T (p.Gln1164Leu)
NM_024577.4(SH3TC2):c.3500T>G (p.Val1167Gly) rs2127392009
NM_024577.4(SH3TC2):c.3504C>A (p.Ala1168=) rs757201330
NM_024577.4(SH3TC2):c.3504C>T (p.Ala1168=) rs757201330
NM_024577.4(SH3TC2):c.3504_3518del (p.Phe1169_Ala1173del)
NM_024577.4(SH3TC2):c.3508_3516del (p.His1170_Leu1172del) rs1753702797
NM_024577.4(SH3TC2):c.3512G>A (p.Arg1171His) rs200728983
NM_024577.4(SH3TC2):c.3512G>C (p.Arg1171Pro) rs200728983
NM_024577.4(SH3TC2):c.3534C>A (p.Ser1178=) rs2127391999
NM_024577.4(SH3TC2):c.3535C>T (p.Leu1179=) rs1031965152
NM_024577.4(SH3TC2):c.3543G>A (p.Met1181Ile)
NM_024577.4(SH3TC2):c.3589C>T (p.Pro1197Ser) rs1343590454
NM_024577.4(SH3TC2):c.3592C>T (p.Pro1198Ser) rs1561756981
NM_024577.4(SH3TC2):c.3593_3594inv (p.Pro1198Leu)
NM_024577.4(SH3TC2):c.3594A>C (p.Pro1198=) rs6871030
NM_024577.4(SH3TC2):c.3594A>G (p.Pro1198=) rs6871030
NM_024577.4(SH3TC2):c.3600G>A (p.Leu1200=) rs886060195
NM_024577.4(SH3TC2):c.3601C>T (p.Gln1201Ter) rs80338937
NM_024577.4(SH3TC2):c.3602A>T (p.Gln1201Leu) rs776962303
NM_024577.4(SH3TC2):c.3603G>A (p.Gln1201=)
NM_024577.4(SH3TC2):c.3607C>A (p.Pro1203Thr)
NM_024577.4(SH3TC2):c.3613G>A (p.Glu1205Lys) rs926087682
NM_024577.4(SH3TC2):c.3617C>A (p.Ala1206Asp) rs1753699992
NM_024577.4(SH3TC2):c.3621G>A (p.Leu1207=) rs770300877
NM_024577.4(SH3TC2):c.362A>C (p.Lys121Thr) rs1580912012
NM_024577.4(SH3TC2):c.362A>T (p.Lys121Met) rs1580912012
NM_024577.4(SH3TC2):c.3634G>A (p.Val1212Met) rs756174696
NM_024577.4(SH3TC2):c.3643C>T (p.Arg1215Cys) rs267600481
NM_024577.4(SH3TC2):c.3650del (p.Gly1217fs) rs369695480
NM_024577.4(SH3TC2):c.3651C>A (p.Gly1217=) rs1753699032
NM_024577.4(SH3TC2):c.3667C>G (p.Gln1223Glu)
NM_024577.4(SH3TC2):c.3675+17C>G
NM_024577.4(SH3TC2):c.3675+2dup rs1554120215
NM_024577.4(SH3TC2):c.3676-11C>A
NM_024577.4(SH3TC2):c.3676-13A>G rs1753660598
NM_024577.4(SH3TC2):c.3676-18C>T
NM_024577.4(SH3TC2):c.3676-1G>A rs1306229414
NM_024577.4(SH3TC2):c.3676-8G>A rs772823083
NM_024577.4(SH3TC2):c.367T>C (p.Ser123Pro)
NM_024577.4(SH3TC2):c.3684T>A (p.His1228Gln) rs1753659994
NM_024577.4(SH3TC2):c.3688G>A (p.Ala1230Thr)
NM_024577.4(SH3TC2):c.3692_3693del (p.Thr1231fs)
NM_024577.4(SH3TC2):c.369C>T (p.Ser123=)
NM_024577.4(SH3TC2):c.3720A>T (p.Ala1240=)
NM_024577.4(SH3TC2):c.3728T>C (p.Leu1243Pro)
NM_024577.4(SH3TC2):c.3729G>A (p.Leu1243=) rs1335682517
NM_024577.4(SH3TC2):c.3733_3734del (p.Leu1244_Gly1245insTer) rs2127391399
NM_024577.4(SH3TC2):c.3762G>A (p.Arg1254=) rs374376222
NM_024577.4(SH3TC2):c.3768G>A (p.Arg1256=)
NM_024577.4(SH3TC2):c.3768G>T (p.Arg1256Ser)
NM_024577.4(SH3TC2):c.3771G>A (p.Leu1257=) rs1472880531
NM_024577.4(SH3TC2):c.3773A>G (p.Asp1258Gly) rs1753657973
NM_024577.4(SH3TC2):c.3779T>G (p.Ile1260Ser) rs1753657850
NM_024577.4(SH3TC2):c.3784C>G (p.Gln1262Glu)
NM_024577.4(SH3TC2):c.3789C>A (p.Ser1263Arg) rs1210794926
NM_024577.4(SH3TC2):c.3790C>G (p.Pro1264Ala) rs945895550
NM_024577.4(SH3TC2):c.3791C>G (p.Pro1264Arg) rs1753657395
NM_024577.4(SH3TC2):c.3795G>A (p.Leu1265=)
NM_024577.4(SH3TC2):c.3795G>C (p.Leu1265=) rs144873879
NM_024577.4(SH3TC2):c.3804C>T (p.Ser1268=) rs1434453673
NM_024577.4(SH3TC2):c.3805A>T (p.Arg1269Trp) rs1753656892
NM_024577.4(SH3TC2):c.3806G>C (p.Arg1269Thr)
NM_024577.4(SH3TC2):c.3807G>A (p.Arg1269=)
NM_024577.4(SH3TC2):c.3807G>T (p.Arg1269Ser) rs370090569
NM_024577.4(SH3TC2):c.3810C>T (p.Pro1270=) rs2127391368
NM_024577.4(SH3TC2):c.3816G>T (p.Gly1272=) rs1038817068
NM_024577.4(SH3TC2):c.383T>G (p.Leu128Ter) rs1754425628
NM_024577.4(SH3TC2):c.3846T>C (p.Ser1282=)
NM_024577.4(SH3TC2):c.3846TGG[2] (p.Gly1285del) rs1554120043
NM_024577.4(SH3TC2):c.3847G>T (p.Gly1283Cys) rs370844006
NM_024577.4(SH3TC2):c.385+16A>G
NM_024577.4(SH3TC2):c.385+1G>T rs2127401413
NM_024577.4(SH3TC2):c.385+2T>C rs773554464
NM_024577.4(SH3TC2):c.385+4_385+8del rs148930563
NM_024577.4(SH3TC2):c.385+9C>T rs1561770736
NM_024577.4(SH3TC2):c.3851G>A (p.Gly1284Asp) rs771840516
NM_024577.4(SH3TC2):c.3856C>G (p.Leu1286Val) rs1261276778
NM_024577.4(SH3TC2):c.386-10G>A rs1580910938
NM_024577.4(SH3TC2):c.386-12T>C rs370151955
NM_024577.4(SH3TC2):c.386-18G>A
NM_024577.4(SH3TC2):c.386-18G>T
NM_024577.4(SH3TC2):c.391G>A (p.Val131Ile)
NM_024577.4(SH3TC2):c.407A>G (p.Glu136Gly)
NM_024577.4(SH3TC2):c.412CTC[1] (p.Leu139del)
NM_024577.4(SH3TC2):c.414C>T (p.Leu138=) rs2127400982
NM_024577.4(SH3TC2):c.425A>G (p.His142Arg) rs1168407927
NM_024577.4(SH3TC2):c.42C>T (p.Thr14=) rs2127406106
NM_024577.4(SH3TC2):c.437T>C (p.Leu146Pro) rs2127400975
NM_024577.4(SH3TC2):c.438C>A (p.Leu146=) rs976553031
NM_024577.4(SH3TC2):c.439A>G (p.Asn147Asp) rs1423301895
NM_024577.4(SH3TC2):c.43C>T (p.Arg15Trp)
NM_024577.4(SH3TC2):c.440A>G (p.Asn147Ser)
NM_024577.4(SH3TC2):c.452T>C (p.Val151Ala) rs779715536
NM_024577.4(SH3TC2):c.46G>A (p.Gly16Ser) rs753975938
NM_024577.4(SH3TC2):c.483T>A (p.Asp161Glu) rs768029461
NM_024577.4(SH3TC2):c.483T>C (p.Asp161=) rs768029461
NM_024577.4(SH3TC2):c.48C>T (p.Gly16=) rs1580924418
NM_024577.4(SH3TC2):c.493C>T (p.Leu165=)
NM_024577.4(SH3TC2):c.496G>T (p.Glu166Ter) rs1554122847
NM_024577.4(SH3TC2):c.4G>A (p.Gly2Ser) rs1554124107
NM_024577.4(SH3TC2):c.507C>T (p.Tyr169=) rs1754392291
NM_024577.4(SH3TC2):c.508C>G (p.Leu170Val) rs2127400948
NM_024577.4(SH3TC2):c.515T>C (p.Leu172Pro)
NM_024577.4(SH3TC2):c.515T>G (p.Leu172Arg) rs1408319932
NM_024577.4(SH3TC2):c.52+11dup rs2127406089
NM_024577.4(SH3TC2):c.52+4A>G rs1170747720
NM_024577.4(SH3TC2):c.524del (p.Gln175fs) rs1561770179
NM_024577.4(SH3TC2):c.525G>A (p.Gln175=) rs2127400937
NM_024577.4(SH3TC2):c.529+14del
NM_024577.4(SH3TC2):c.529+7G>A rs747615694
NM_024577.4(SH3TC2):c.53-17del rs1754572524
NM_024577.4(SH3TC2):c.53-2A>G rs2127403412
NM_024577.4(SH3TC2):c.53-4C>T
NM_024577.4(SH3TC2):c.53-5T>C rs1186354032
NM_024577.4(SH3TC2):c.53-5_53-3del
NM_024577.4(SH3TC2):c.530-1G>A rs1580910061
NM_024577.4(SH3TC2):c.530-2A>G rs80338920
NM_024577.4(SH3TC2):c.530G>A (p.Gly177Asp)
NM_024577.4(SH3TC2):c.535T>G (p.Phe179Val)
NM_024577.4(SH3TC2):c.536TCT[1] (p.Phe180del) rs763476083
NM_024577.4(SH3TC2):c.538T>G (p.Phe180Val)
NM_024577.4(SH3TC2):c.54dup (p.Lys19Ter) rs1580917136
NM_024577.4(SH3TC2):c.550C>T (p.Leu184=) rs1210183194
NM_024577.4(SH3TC2):c.558C>A (p.Ser186=) rs141289653
NM_024577.4(SH3TC2):c.560T>C (p.Val187Ala) rs1554122762
NM_024577.4(SH3TC2):c.561G>A (p.Val187=) rs2127400689
NM_024577.4(SH3TC2):c.566C>T (p.Pro189Leu)
NM_024577.4(SH3TC2):c.571G>C (p.Ala191Pro) rs2127400685
NM_024577.4(SH3TC2):c.573C>A (p.Ala191=)
NM_024577.4(SH3TC2):c.573C>T (p.Ala191=)
NM_024577.4(SH3TC2):c.581A>G (p.Glu194Gly)
NM_024577.4(SH3TC2):c.588A>T (p.Glu196Asp)
NM_024577.4(SH3TC2):c.58G>T (p.Glu20Ter) rs1580917130
NM_024577.4(SH3TC2):c.591C>A (p.Cys197Ter)
NM_024577.4(SH3TC2):c.601T>G (p.Cys201Gly)
NM_024577.4(SH3TC2):c.602G>A (p.Cys201Tyr)
NM_024577.4(SH3TC2):c.603C>T (p.Cys201=) rs760150466
NM_024577.4(SH3TC2):c.609T>G (p.Asn203Lys) rs1754371704
NM_024577.4(SH3TC2):c.620C>G (p.Ser207Ter) rs1754371447
NM_024577.4(SH3TC2):c.620C>T (p.Ser207Leu) rs1754371447
NM_024577.4(SH3TC2):c.641G>A (p.Gly214Asp)
NM_024577.4(SH3TC2):c.643T>C (p.Ser215Pro)
NM_024577.4(SH3TC2):c.64C>G (p.Pro22Ala)
NM_024577.4(SH3TC2):c.650T>C (p.Leu217Ser)
NM_024577.4(SH3TC2):c.656G>A (p.Gly219Asp) rs748374150
NM_024577.4(SH3TC2):c.656G>T (p.Gly219Val)
NM_024577.4(SH3TC2):c.657C>G (p.Gly219=)
NM_024577.4(SH3TC2):c.661T>C (p.Ser221Pro) rs747024391
NM_024577.4(SH3TC2):c.676C>T (p.Gln226Ter) rs2127400649
NM_024577.4(SH3TC2):c.679C>T (p.Arg227Trp) rs532463685
NM_024577.4(SH3TC2):c.682G>A (p.Gly228Ser) rs751022040
NM_024577.4(SH3TC2):c.687G>C (p.Leu229=) rs1025939209
NM_024577.4(SH3TC2):c.688del (p.Val230fs) rs775740308
NM_024577.4(SH3TC2):c.696G>C (p.Val232=)
NM_024577.4(SH3TC2):c.720C>A (p.Leu240=)
NM_024577.4(SH3TC2):c.731+14T>C
NM_024577.4(SH3TC2):c.731+17C>A rs1188522082
NM_024577.4(SH3TC2):c.731+1G>A
NM_024577.4(SH3TC2):c.731+2T>G rs2127400622
NM_024577.4(SH3TC2):c.731+4A>G
NM_024577.4(SH3TC2):c.732-19C>A
NM_024577.4(SH3TC2):c.732-20C>A
NM_024577.4(SH3TC2):c.732-6T>C rs1554122676
NM_024577.4(SH3TC2):c.734G>T (p.Trp245Leu) rs751095271
NM_024577.4(SH3TC2):c.746A>G (p.Asn249Ser) rs760971566
NM_024577.4(SH3TC2):c.753A>T (p.Pro251=) rs2127400486
NM_024577.4(SH3TC2):c.758G>C (p.Ser253Thr) rs2127400485
NM_024577.4(SH3TC2):c.766C>T (p.Leu256Phe)
NM_024577.4(SH3TC2):c.788C>A (p.Thr263Lys)
NM_024577.4(SH3TC2):c.790G>C (p.Gly264Arg)
NM_024577.4(SH3TC2):c.793T>A (p.Ser265Thr) rs1580909284
NM_024577.4(SH3TC2):c.805+18A>T
NM_024577.4(SH3TC2):c.805+2T>C rs139052887
NM_024577.4(SH3TC2):c.806-12T>C
NM_024577.4(SH3TC2):c.806-1G>A rs1554122560
NM_024577.4(SH3TC2):c.819T>C (p.Cys273=) rs2127400023
NM_024577.4(SH3TC2):c.819dup (p.Lys274Ter) rs1754320158
NM_024577.4(SH3TC2):c.820_821insT (p.Lys274fs) rs879253859
NM_024577.4(SH3TC2):c.822G>A (p.Lys274=)
NM_024577.4(SH3TC2):c.822_850dup (p.Lys284delinsArgProTer) rs1754319130
NM_024577.4(SH3TC2):c.826T>A (p.Leu276Met) rs1580908028
NM_024577.4(SH3TC2):c.828G>C (p.Leu276Phe) rs1754319874
NM_024577.4(SH3TC2):c.832G>A (p.Gly278Ser) rs1204913371
NM_024577.4(SH3TC2):c.833G>T (p.Gly278Val) rs757292503
NM_024577.4(SH3TC2):c.841C>A (p.Pro281Thr)
NM_024577.4(SH3TC2):c.849A>G (p.Glu283=) rs2127400009
NM_024577.4(SH3TC2):c.852G>C (p.Lys284Asn)
NM_024577.4(SH3TC2):c.854A>G (p.Asp285Gly) rs763037689
NM_024577.4(SH3TC2):c.856G>A (p.Glu286Lys) rs2127400005
NM_024577.4(SH3TC2):c.895G>A (p.Gly299Ser) rs1233598157
NM_024577.4(SH3TC2):c.896G>C (p.Gly299Ala) rs1222332332
NM_024577.4(SH3TC2):c.8G>A (p.Gly3Asp) rs1465198831
NM_024577.4(SH3TC2):c.902T>C (p.Val301Ala) rs1754317882
NM_024577.4(SH3TC2):c.910G>A (p.Gly304Arg) rs1754317705
NM_024577.4(SH3TC2):c.912G>A (p.Gly304=) rs757204346
NM_024577.4(SH3TC2):c.912G>C (p.Gly304=)
NM_024577.4(SH3TC2):c.920G>A (p.Trp307Ter) rs80338921
NM_024577.4(SH3TC2):c.926T>C (p.Ile309Thr) rs1754317366
NM_024577.4(SH3TC2):c.929dup (p.Ser312fs) rs2127399983
NM_024577.4(SH3TC2):c.947G>A (p.Gly316Glu) rs1251082752
NM_024577.4(SH3TC2):c.957del (p.Phe320fs) rs1554122541
NM_024577.4(SH3TC2):c.96T>C (p.Cys32=)
NM_024577.4(SH3TC2):c.96_99dup (p.Ala34fs)
NM_024577.4(SH3TC2):c.971G>A (p.Arg324Lys) rs1754316511
NM_024577.4(SH3TC2):c.974del (p.Asn325fs) rs1580907885
NM_024577.4(SH3TC2):c.977T>C (p.Ile326Thr) rs1754316407
NM_024577.4(SH3TC2):c.995C>A (p.Ser332Tyr)

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