ClinVar Miner

List of variants in gene TRIOBP studied for not provided

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Gene type:
ClinVar version:
Total variants: 666
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HGVS dbSNP gnomAD frequency
NM_001039141.3(TRIOBP):c.*2+249A>G rs762985 0.96820
NM_001039141.3(TRIOBP):c.6324+46C>G rs5756810 0.96820
NM_001039141.3(TRIOBP):c.6937-100T>C rs762984 0.96818
NM_001039141.3(TRIOBP):c.4129T>C (p.Trp1377Arg) rs8140958 0.96815
NM_001039141.3(TRIOBP):c.3948-219G>A rs4820302 0.96799
NM_001039141.3(TRIOBP):c.3899A>G (p.His1300Arg) rs739138 0.58971
NM_001039141.3(TRIOBP):c.4063-21A>C rs13054052 0.54357
NM_001039141.3(TRIOBP):c.650G>A (p.Ser217Asn) rs12628603 0.54098
NM_001039141.3(TRIOBP):c.115-175A>T rs4821691 0.53667
NM_001039141.3(TRIOBP):c.3975G>A (p.Gln1325=) rs7284476 0.35508
NM_001039141.3(TRIOBP):c.3885C>T (p.Ser1295=) rs739137 0.35439
NM_001039141.3(TRIOBP):c.2589C>A (p.Asn863Lys) rs9610841 0.35396
NM_001039141.3(TRIOBP):c.3559T>C (p.Phe1187Leu) rs5756795 0.35350
NM_001039141.3(TRIOBP):c.-60-107_-60-106dup rs34316404 0.24790
NM_001039141.3(TRIOBP):c.6498C>T (p.Tyr2166=) rs4821708 0.24140
NM_001039141.3(TRIOBP):c.6849+205G>A rs34848977 0.24122
NM_001039141.3(TRIOBP):c.5185-226C>T rs4821703 0.23799
NM_001039141.3(TRIOBP):c.4116G>T (p.Glu1372Asp) rs8140207 0.23344
NM_001039141.3(TRIOBP):c.5185-315A>C rs9619707 0.18656
NM_001039141.3(TRIOBP):c.628+284T>C rs8139083 0.18552
NM_001039141.3(TRIOBP):c.6324+226A>G rs57799594 0.10409
NM_001039141.3(TRIOBP):c.6576-168C>G rs59689693 0.09228
NM_001039141.3(TRIOBP):c.114+252T>A rs73409450 0.05871
NM_001039141.3(TRIOBP):c.1866T>C (p.Asp622=) rs6000868 0.05844
NM_001039141.3(TRIOBP):c.6473-304C>G rs16985637 0.05357
NM_001039141.3(TRIOBP):c.2450C>G (p.Thr817Ser) rs41302575 0.05250
NM_001039141.3(TRIOBP):c.1306G>A (p.Asp436Asn) rs75659869 0.05161
NM_001039141.3(TRIOBP):c.4063-31A>C rs73883905 0.04762
NM_001039141.3(TRIOBP):c.1979C>T (p.Ala660Val) rs142024473 0.04197
NM_001039141.3(TRIOBP):c.5322+5160G>T rs117955278 0.04108
NM_001039141.3(TRIOBP):c.6849+67G>A rs112733082 0.04029
NM_001039141.3(TRIOBP):c.255-112C>T rs79448959 0.02624
NM_001039141.3(TRIOBP):c.1740C>A (p.Ala580=) rs79945262 0.01670
NM_001039141.3(TRIOBP):c.2477C>T (p.Ser826Leu) rs41296243 0.01649
NM_001039141.3(TRIOBP):c.5322+48G>A rs137920289 0.01406
NM_001039141.3(TRIOBP):c.629-281T>A rs76340729 0.01302
NM_001039141.3(TRIOBP):c.628+94dup rs148078870 0.01300
NM_001039141.3(TRIOBP):c.254+120G>T rs144572916 0.01082
NM_001039141.3(TRIOBP):c.5184+82A>G rs112316713 0.01047
NM_001039141.3(TRIOBP):c.2610A>G (p.Gln870=) rs114062955 0.01025
NM_001039141.3(TRIOBP):c.2392C>T (p.Arg798Trp) rs139889819 0.01019
NM_001039141.3(TRIOBP):c.5322+5077G>T rs558132208 0.00940
NM_001039141.3(TRIOBP):c.3089C>G (p.Pro1030Arg) rs193043234 0.00922
NM_001039141.3(TRIOBP):c.255-240_255-234del rs1461435939 0.00910
NM_001039141.3(TRIOBP):c.457-271G>A rs150170242 0.00896
NM_001039141.3(TRIOBP):c.5688-262A>G rs77171481 0.00894
NM_001039141.3(TRIOBP):c.4063-225C>T rs116813419 0.00884
NM_001039141.3(TRIOBP):c.4063-264T>C rs115446793 0.00881
NM_001039141.3(TRIOBP):c.115-74G>A rs115587759 0.00878
NM_001039141.3(TRIOBP):c.2664A>G (p.Gln888=) rs149390662 0.00860
NM_001039141.3(TRIOBP):c.6473-179A>G rs146740305 0.00850
NM_001039141.3(TRIOBP):c.6850-213C>T rs146821607 0.00848
NM_001039141.3(TRIOBP):c.6575+96del rs149147789 0.00829
NM_001039141.3(TRIOBP):c.6472+33G>A rs115232053 0.00816
NM_001039141.3(TRIOBP):c.5322+262G>C rs142366455 0.00790
NM_001039141.3(TRIOBP):c.4178C>T (p.Pro1393Leu) rs28450766 0.00750
NM_001039141.3(TRIOBP):c.6899T>C (p.Val2300Ala) rs61737841 0.00748
NM_001039141.3(TRIOBP):c.3948-240C>T rs143951029 0.00747
NM_001039141.3(TRIOBP):c.6472+315G>A rs116673177 0.00745
NM_001039141.3(TRIOBP):c.651C>T (p.Ser217=) rs112728182 0.00736
NM_001039141.3(TRIOBP):c.115-148C>T rs188617116 0.00688
NM_001039141.3(TRIOBP):c.2234G>A (p.Arg745Lys) rs150690007 0.00672
NM_001039141.3(TRIOBP):c.1158C>T (p.Asp386=) rs116964444 0.00651
NM_001039141.3(TRIOBP):c.6936+123C>T rs146904794 0.00645
NM_001039141.3(TRIOBP):c.4165C>A (p.Leu1389Ile) rs144175566 0.00642
NM_001039141.3(TRIOBP):c.6937-41G>A rs138259464 0.00637
NM_001039141.3(TRIOBP):c.7032G>A (p.Glu2344=) rs61737839 0.00637
NM_001039141.3(TRIOBP):c.6571C>T (p.His2191Tyr) rs61729063 0.00635
NM_001039141.3(TRIOBP):c.6806A>G (p.Asn2269Ser) rs61729060 0.00634
NM_001039141.3(TRIOBP):c.5380-192G>A rs190059596 0.00632
NM_001039141.3(TRIOBP):c.6472+10C>T rs369182277 0.00575
NM_001039141.3(TRIOBP):c.504C>A (p.Asp168Glu) rs116448422 0.00567
NM_001039141.3(TRIOBP):c.5052G>T (p.Thr1684=) rs41283241 0.00539
NM_001039141.3(TRIOBP):c.6135C>T (p.Pro2045=) rs11546529 0.00524
NM_001039141.3(TRIOBP):c.6736G>A (p.Glu2246Lys) rs138139146 0.00483
NM_001039141.3(TRIOBP):c.114+256T>G rs73409452 0.00466
NM_001039141.3(TRIOBP):c.391G>A (p.Gly131Ser) rs144634857 0.00455
NM_001039141.3(TRIOBP):c.628+94A>G rs113817390 0.00435
NM_001039141.3(TRIOBP):c.115-177C>T rs150572051 0.00421
NM_001039141.3(TRIOBP):c.3947+180T>G rs116725916 0.00419
NM_001039141.3(TRIOBP):c.115-35C>T rs145499943 0.00388
NM_001039141.3(TRIOBP):c.265C>G (p.Pro89Ala) rs199646135 0.00379
NM_001039141.3(TRIOBP):c.115-55G>T rs73409461 0.00372
NM_001039141.3(TRIOBP):c.4643C>T (p.Pro1548Leu) rs78894866 0.00357
NM_001039141.3(TRIOBP):c.6213+44G>A rs117092971 0.00353
NM_001039141.3(TRIOBP):c.6936+172G>T rs192483238 0.00337
NM_001039141.3(TRIOBP):c.6575+76C>T rs116104048 0.00331
NM_001039141.3(TRIOBP):c.*2+127G>A rs141483111 0.00312
NM_001039141.3(TRIOBP):c.3232C>T (p.Arg1078Cys) rs200359708 0.00309
NM_001039141.3(TRIOBP):c.2105A>G (p.Gln702Arg) rs202079450 0.00304
NM_001039141.3(TRIOBP):c.2724G>A (p.Ser908=) rs12160218 0.00303
NM_001039141.3(TRIOBP):c.2000T>C (p.Ile667Thr) rs774018046 0.00295
NM_001039141.3(TRIOBP):c.6849+219A>G rs372103913 0.00287
NM_001039141.3(TRIOBP):c.6576-181C>G rs370688490 0.00284
NM_001039141.3(TRIOBP):c.6324+90C>T rs370719895 0.00281
NM_001039141.3(TRIOBP):c.584C>T (p.Thr195Ile) rs143157673 0.00258
NM_001039141.3(TRIOBP):c.1884T>C (p.Cys628=) rs6000869 0.00249
NM_001039141.3(TRIOBP):c.4031G>A (p.Arg1344Gln) rs34066624 0.00238
NM_001039141.3(TRIOBP):c.4333A>G (p.Arg1445Gly) rs199640717 0.00225
NM_001039141.3(TRIOBP):c.2149C>G (p.Gln717Glu) rs186620158 0.00221
NM_001039141.3(TRIOBP):c.5886A>G (p.Pro1962=) rs372220018 0.00171
NM_001039141.3(TRIOBP):c.1964G>A (p.Arg655Gln) rs148083430 0.00167
NM_001039141.3(TRIOBP):c.3954C>T (p.Ser1318=) rs200990219 0.00157
NM_001039141.3(TRIOBP):c.1225C>T (p.Arg409Trp) rs200333366 0.00151
NM_001039141.3(TRIOBP):c.4728T>C (p.Arg1576=) rs112874177 0.00143
NM_001039141.3(TRIOBP):c.6741G>A (p.Leu2247=) rs375013523 0.00137
NM_001039141.3(TRIOBP):c.4139A>G (p.Glu1380Gly) rs202059880 0.00133
NM_001039141.3(TRIOBP):c.5224C>T (p.Leu1742Phe) rs200493962 0.00129
NM_001039141.3(TRIOBP):c.2456T>C (p.Ile819Thr) rs202004755 0.00128
NM_001039141.3(TRIOBP):c.5058C>G (p.Pro1686=) rs113459040 0.00123
NM_001039141.3(TRIOBP):c.815C>A (p.Thr272Lys) rs140901235 0.00119
NM_001039141.3(TRIOBP):c.3068C>T (p.Ala1023Val) rs201681832 0.00116
NM_001039141.3(TRIOBP):c.634G>A (p.Gly212Ser) rs201794404 0.00115
NM_001039141.3(TRIOBP):c.2811C>T (p.Ile937=) rs115800799 0.00111
NM_001039141.3(TRIOBP):c.4792C>G (p.Pro1598Ala) rs201730395 0.00103
NM_001039141.3(TRIOBP):c.1690A>G (p.Thr564Ala) rs777175618 0.00097
NM_001039141.3(TRIOBP):c.4099C>T (p.Arg1367Trp) rs191589773 0.00097
NM_001039141.3(TRIOBP):c.1850A>G (p.Asn617Ser) rs202216652 0.00094
NM_001039141.3(TRIOBP):c.365T>C (p.Leu122Ser) rs200701262 0.00093
NM_001039141.3(TRIOBP):c.363C>A (p.Ser121=) rs201843208 0.00091
NM_001039141.3(TRIOBP):c.1132C>T (p.Pro378Ser) rs183024099 0.00087
NM_001039141.3(TRIOBP):c.1226G>A (p.Arg409Gln) rs148874577 0.00085
NM_001039141.3(TRIOBP):c.3309C>T (p.His1103=) rs199594270 0.00082
NM_001039141.3(TRIOBP):c.5705A>C (p.Lys1902Thr) rs138804394 0.00071
NM_001039141.3(TRIOBP):c.2201C>T (p.Ser734Phe) rs199794705 0.00069
NM_001039141.3(TRIOBP):c.6632A>T (p.Gln2211Leu) rs200313246 0.00067
NM_001039141.3(TRIOBP):c.2992G>A (p.Ala998Thr) rs200019928 0.00064
NM_001039141.3(TRIOBP):c.5767G>A (p.Ala1923Thr) rs150947392 0.00064
NM_001039141.3(TRIOBP):c.202A>G (p.Thr68Ala) rs200529550 0.00063
NM_001039141.3(TRIOBP):c.6414G>A (p.Gln2138=) rs369245613 0.00063
NM_001039141.3(TRIOBP):c.5166C>G (p.Asp1722Glu) rs183189469 0.00061
NM_001039141.3(TRIOBP):c.629-26C>T rs142133988 0.00060
NM_001039141.3(TRIOBP):c.4077T>C (p.Pro1359=) rs139074745 0.00058
NM_001039141.3(TRIOBP):c.6771G>A (p.Gln2257=) rs200793989 0.00058
NM_001039141.3(TRIOBP):c.5014G>T (p.Gly1672Ter) rs200045032 0.00054
NM_001039141.3(TRIOBP):c.3219G>A (p.Ala1073=) rs374759271 0.00053
NM_001039141.3(TRIOBP):c.965C>T (p.Ala322Val) rs145588841 0.00053
NM_001039141.3(TRIOBP):c.497G>C (p.Ser166Thr) rs540459171 0.00049
NM_001039141.3(TRIOBP):c.2835C>G (p.Asp945Glu) rs200608722 0.00048
NM_001039141.3(TRIOBP):c.3133C>T (p.Arg1045Cys) rs145115226 0.00045
NM_001039141.3(TRIOBP):c.4370G>A (p.Gly1457Glu) rs374419542 0.00044
NM_001039141.3(TRIOBP):c.4666G>A (p.Glu1556Lys) rs376793698 0.00042
NM_001039141.3(TRIOBP):c.5322+5328C>G rs754250186 0.00042
NM_001039141.3(TRIOBP):c.4103G>A (p.Arg1368Gln) rs182816010 0.00040
NM_001039141.3(TRIOBP):c.3369C>T (p.Ser1123=) rs201366345 0.00039
NM_001039141.3(TRIOBP):c.4222C>T (p.Arg1408Trp) rs577249547 0.00039
NM_001039141.3(TRIOBP):c.3662G>A (p.Arg1221Gln) rs200559738 0.00037
NM_001039141.3(TRIOBP):c.709C>T (p.Arg237Trp) rs144995033 0.00037
NM_001039141.3(TRIOBP):c.3942G>C (p.Glu1314Asp) rs529894952 0.00036
NM_001039141.3(TRIOBP):c.6362C>T (p.Ser2121Leu) rs201724032 0.00036
NM_001039141.3(TRIOBP):c.1296C>T (p.Cys432=) rs66505048 0.00035
NM_001039141.3(TRIOBP):c.4329A>G (p.Leu1443=) rs547759535 0.00035
NM_001039141.3(TRIOBP):c.4497T>G (p.Thr1499=) rs139919698 0.00034
NM_001039141.3(TRIOBP):c.4783C>T (p.Arg1595Cys) rs201117318 0.00034
NM_001039141.3(TRIOBP):c.4299G>A (p.Pro1433=) rs201366137 0.00032
NM_001039141.3(TRIOBP):c.5764C>T (p.Arg1922Trp) rs183941928 0.00032
NM_001039141.3(TRIOBP):c.4062+19C>T rs143953666 0.00031
NM_001039141.3(TRIOBP):c.6556G>A (p.Gly2186Ser) rs191901426 0.00031
NM_001039141.3(TRIOBP):c.5274G>A (p.Thr1758=) rs370386947 0.00030
NM_001039141.3(TRIOBP):c.5853G>A (p.Leu1951=) rs55821172 0.00030
NM_001039141.3(TRIOBP):c.3926G>A (p.Arg1309His) rs371543013 0.00029
NM_001039141.3(TRIOBP):c.483G>A (p.Glu161=) rs368119524 0.00028
NM_001039141.3(TRIOBP):c.4484A>T (p.Glu1495Val) rs183455182 0.00026
NM_001039141.3(TRIOBP):c.6792G>A (p.Ser2264=) rs371118329 0.00026
NM_001039141.3(TRIOBP):c.6936+120G>A rs116921734 0.00026
NM_001039141.3(TRIOBP):c.2063G>A (p.Ser688Asn) rs748003804 0.00025
NM_001039141.3(TRIOBP):c.1283C>G (p.Pro428Arg) rs372134073 0.00023
NM_001039141.3(TRIOBP):c.1772A>G (p.Asn591Ser) rs764911741 0.00023
NM_001039141.3(TRIOBP):c.4510A>G (p.Arg1504Gly) rs374991119 0.00022
NM_001039141.3(TRIOBP):c.3635T>A (p.Leu1212Gln) rs201392187 0.00021
NM_001039141.3(TRIOBP):c.6007G>A (p.Gly2003Ser) rs397516554 0.00021
NM_001039141.3(TRIOBP):c.6360C>T (p.Ser2120=) rs375936342 0.00021
NM_001039141.3(TRIOBP):c.3074G>A (p.Arg1025Gln) rs368593552 0.00020
NM_001039141.3(TRIOBP):c.3774C>T (p.Pro1258=) rs377749969 0.00020
NM_001039141.3(TRIOBP):c.4726C>T (p.Arg1576Cys) rs200113910 0.00020
NM_001039141.3(TRIOBP):c.4935A>G (p.Ala1645=) rs371078565 0.00020
NM_001039141.3(TRIOBP):c.5878C>T (p.Arg1960Cys) rs368774500 0.00019
NM_001039141.3(TRIOBP):c.6803G>A (p.Gly2268Asp) rs200411253 0.00019
NM_001039141.3(TRIOBP):c.7020G>C (p.Glu2340Asp) rs373236761 0.00019
NM_001039141.3(TRIOBP):c.5769G>A (p.Ala1923=) rs140302221 0.00018
NM_001039141.3(TRIOBP):c.1874G>C (p.Arg625Thr) rs886043820 0.00017
NM_001039141.3(TRIOBP):c.409A>G (p.Ser137Gly) rs201008196 0.00017
NM_001039141.3(TRIOBP):c.5788C>T (p.Arg1930Trp) rs142769400 0.00017
NM_001039141.3(TRIOBP):c.6694C>T (p.Arg2232Cys) rs201673500 0.00017
NM_001039141.3(TRIOBP):c.1933C>T (p.Gln645Ter) rs377748152 0.00016
NM_001039141.3(TRIOBP):c.4932C>T (p.Pro1644=) rs192500421 0.00016
NM_001039141.3(TRIOBP):c.6214-5C>T rs757683143 0.00016
NM_001039141.3(TRIOBP):c.114+16A>G rs117561671 0.00015
NM_001039141.3(TRIOBP):c.572C>T (p.Pro191Leu) rs201532915 0.00015
NM_001039141.3(TRIOBP):c.2777G>A (p.Arg926His) rs199624624 0.00014
NM_001039141.3(TRIOBP):c.3250C>T (p.Pro1084Ser) rs369404083 0.00014
NM_001039141.3(TRIOBP):c.3767C>T (p.Ala1256Val) rs527894233 0.00014
NM_001039141.3(TRIOBP):c.964G>T (p.Ala322Ser) rs201693690 0.00014
NM_001039141.3(TRIOBP):c.1989T>C (p.Pro663=) rs530563313 0.00013
NM_001039141.3(TRIOBP):c.3482C>T (p.Pro1161Leu) rs763218276 0.00013
NM_001039141.3(TRIOBP):c.5167C>A (p.Gln1723Lys) rs370224413 0.00013
NM_001039141.3(TRIOBP):c.6515G>A (p.Arg2172Gln) rs200528850 0.00013
NM_001039141.3(TRIOBP):c.2106A>G (p.Gln702=) rs200775459 0.00012
NM_001039141.3(TRIOBP):c.381C>T (p.Asn127=) rs200112121 0.00012
NM_001039141.3(TRIOBP):c.4910C>G (p.Thr1637Ser) rs374217208 0.00012
NM_001039141.3(TRIOBP):c.6775C>T (p.Arg2259Cys) rs536411182 0.00012
NM_001039141.3(TRIOBP):c.1443T>C (p.Cys481=) rs879340508 0.00011
NM_001039141.3(TRIOBP):c.163C>T (p.Arg55Ter) rs369119867 0.00011
NM_001039141.3(TRIOBP):c.2531T>G (p.Leu844Arg) rs759230519 0.00011
NM_001039141.3(TRIOBP):c.2555A>T (p.Asp852Val) rs778331588 0.00011
NM_001039141.3(TRIOBP):c.6744T>C (p.His2248=) rs369195136 0.00011
NM_001039141.3(TRIOBP):c.1039C>T (p.Arg347Ter) rs118204026 0.00010
NM_001039141.3(TRIOBP):c.1681G>A (p.Ala561Thr) rs778407413 0.00010
NM_001039141.3(TRIOBP):c.3867C>T (p.Pro1289=) rs765867142 0.00010
NM_001039141.3(TRIOBP):c.5322+5351G>T rs562698421 0.00010
NM_001039141.3(TRIOBP):c.5922G>T (p.Glu1974Asp) rs374754282 0.00010
NM_001039141.3(TRIOBP):c.3224C>T (p.Ser1075Leu) rs201142573 0.00009
NM_001039141.3(TRIOBP):c.3256C>A (p.Pro1086Thr) rs768114738 0.00009
NM_001039141.3(TRIOBP):c.3320A>G (p.Gln1107Arg) rs371110433 0.00009
NM_001039141.3(TRIOBP):c.3661C>T (p.Arg1221Trp) rs375575197 0.00009
NM_001039141.3(TRIOBP):c.4419G>A (p.Pro1473=) rs376111214 0.00009
NM_001039141.3(TRIOBP):c.5688-13G>C rs200079756 0.00009
NM_001039141.3(TRIOBP):c.636C>T (p.Gly212=) rs369377486 0.00009
NM_001039141.3(TRIOBP):c.6456G>A (p.Thr2152=) rs372723886 0.00009
NM_001039141.3(TRIOBP):c.6961T>C (p.Tyr2321His) rs727503530 0.00009
NM_001039141.3(TRIOBP):c.1715G>A (p.Arg572Gln) rs375378994 0.00008
NM_001039141.3(TRIOBP):c.2061C>T (p.Pro687=) rs778979296 0.00008
NM_001039141.3(TRIOBP):c.2432A>G (p.Gln811Arg) rs200250720 0.00008
NM_001039141.3(TRIOBP):c.5818C>T (p.Arg1940Cys) rs535817741 0.00008
NM_001039141.3(TRIOBP):c.6471A>G (p.Ser2157=) rs781562394 0.00008
NM_001039141.3(TRIOBP):c.1744C>T (p.Arg582Trp) rs372263310 0.00007
NM_001039141.3(TRIOBP):c.3084G>A (p.Ser1028=) rs763012991 0.00007
NM_001039141.3(TRIOBP):c.5076T>C (p.Thr1692=) rs751489455 0.00007
NM_001039141.3(TRIOBP):c.5867C>T (p.Pro1956Leu) rs756017020 0.00007
NM_001039141.3(TRIOBP):c.633C>T (p.Thr211=) rs372631964 0.00007
NM_001039141.3(TRIOBP):c.6999A>G (p.Thr2333=) rs765730180 0.00007
NM_001039141.3(TRIOBP):c.2869C>G (p.Gln957Glu) rs370714631 0.00006
NM_001039141.3(TRIOBP):c.3073C>T (p.Arg1025Ter) rs776962899 0.00006
NM_001039141.3(TRIOBP):c.5266C>T (p.Arg1756Trp) rs774610362 0.00006
NM_001039141.3(TRIOBP):c.5273C>A (p.Thr1758Lys) rs200859910 0.00006
NM_001039141.3(TRIOBP):c.587G>C (p.Arg196Thr) rs200786015 0.00006
NM_001039141.3(TRIOBP):c.6248G>A (p.Arg2083His) rs185791823 0.00006
NM_001039141.3(TRIOBP):c.6325-10C>T rs727503527 0.00006
NM_001039141.3(TRIOBP):c.6455C>T (p.Thr2152Met) rs534215753 0.00006
NM_001039141.3(TRIOBP):c.6563G>A (p.Arg2188Gln) rs34138461 0.00006
NM_001039141.3(TRIOBP):c.1416C>T (p.Ala472=) rs534931785 0.00005
NM_001039141.3(TRIOBP):c.154G>A (p.Asp52Asn) rs147691840 0.00005
NM_001039141.3(TRIOBP):c.1719C>T (p.Asp573=) rs368233775 0.00005
NM_001039141.3(TRIOBP):c.2551C>T (p.Arg851Trp) rs532583197 0.00005
NM_001039141.3(TRIOBP):c.2590C>T (p.Pro864Ser) rs762514605 0.00005
NM_001039141.3(TRIOBP):c.2991C>T (p.Pro997=) rs200913574 0.00005
NM_001039141.3(TRIOBP):c.3000T>C (p.Tyr1000=) rs550995908 0.00005
NM_001039141.3(TRIOBP):c.3386C>T (p.Ala1129Val) rs752938356 0.00005
NM_001039141.3(TRIOBP):c.3451A>G (p.Met1151Val) rs368198510 0.00005
NM_001039141.3(TRIOBP):c.4298C>T (p.Pro1433Leu) rs761830009 0.00005
NM_001039141.3(TRIOBP):c.5903G>A (p.Arg1968His) rs201211654 0.00005
NM_001039141.3(TRIOBP):c.629-1G>C rs766809690 0.00005
NM_001039141.3(TRIOBP):c.6776G>A (p.Arg2259His) rs554837585 0.00005
NM_001039141.3(TRIOBP):c.7044T>C (p.Leu2348=) rs373077785 0.00005
NM_001039141.3(TRIOBP):c.2144C>T (p.Thr715Ile) rs372618248 0.00004
NM_001039141.3(TRIOBP):c.3412G>T (p.Asp1138Tyr) rs765268022 0.00004
NM_001039141.3(TRIOBP):c.3490G>A (p.Val1164Met) rs1032335712 0.00004
NM_001039141.3(TRIOBP):c.446C>T (p.Ser149Leu) rs769860248 0.00004
NM_001039141.3(TRIOBP):c.477G>T (p.Arg159Ser) rs188030007 0.00004
NM_001039141.3(TRIOBP):c.5184+1G>A rs575123401 0.00004
NM_001039141.3(TRIOBP):c.5198C>T (p.Pro1733Leu) rs373745908 0.00004
NM_001039141.3(TRIOBP):c.6123T>A (p.Asn2041Lys) rs372525528 0.00004
NM_001039141.3(TRIOBP):c.6243G>A (p.Ala2081=) rs749289977 0.00004
NM_001039141.3(TRIOBP):c.6308C>T (p.Pro2103Leu) rs200250028 0.00004
NM_001039141.3(TRIOBP):c.7010G>A (p.Arg2337Gln) rs200850285 0.00004
NM_001039141.3(TRIOBP):c.951G>T (p.Glu317Asp) rs191880936 0.00004
NM_001039141.3(TRIOBP):c.1090C>T (p.Pro364Ser) rs578179660 0.00003
NM_001039141.3(TRIOBP):c.1213T>C (p.Ser405Pro) rs778139949 0.00003
NM_001039141.3(TRIOBP):c.1968C>T (p.Asp656=) rs376169386 0.00003
NM_001039141.3(TRIOBP):c.3349C>T (p.Arg1117Ter) rs118204031 0.00003
NM_001039141.3(TRIOBP):c.3415C>A (p.Leu1139Ile) rs368173276 0.00003
NM_001039141.3(TRIOBP):c.3892C>T (p.Arg1298Cys) rs370519121 0.00003
NM_001039141.3(TRIOBP):c.5317C>T (p.Arg1773Ter) rs368112491 0.00003
NM_001039141.3(TRIOBP):c.5782A>G (p.Ile1928Val) rs781135139 0.00003
NM_001039141.3(TRIOBP):c.5812G>A (p.Gly1938Arg) rs1448407838 0.00003
NM_001039141.3(TRIOBP):c.5950G>A (p.Glu1984Lys) rs756746707 0.00003
NM_001039141.3(TRIOBP):c.6022C>T (p.Arg2008Trp) rs772305308 0.00003
NM_001039141.3(TRIOBP):c.6242C>T (p.Ala2081Val) rs150499644 0.00003
NM_001039141.3(TRIOBP):c.6861C>T (p.Arg2287=) rs565776492 0.00003
NM_001039141.3(TRIOBP):c.1637G>A (p.Arg546Gln) rs370484153 0.00002
NM_001039141.3(TRIOBP):c.255-11T>C rs200624451 0.00002
NM_001039141.3(TRIOBP):c.3689C>T (p.Pro1230Leu) rs200665858 0.00002
NM_001039141.3(TRIOBP):c.3944G>A (p.Arg1315His) rs772997803 0.00002
NM_001039141.3(TRIOBP):c.4224G>A (p.Arg1408=) rs781689687 0.00002
NM_001039141.3(TRIOBP):c.4270C>G (p.Leu1424Val) rs768735088 0.00002
NM_001039141.3(TRIOBP):c.5891G>A (p.Arg1964His) rs534138620 0.00002
NM_001039141.3(TRIOBP):c.6023G>A (p.Arg2008Gln) rs887977694 0.00002
NM_001039141.3(TRIOBP):c.6472+19_6472+20insA rs397769084 0.00002
NM_001039141.3(TRIOBP):c.6562C>T (p.Arg2188Trp) rs555062092 0.00002
NM_001039141.3(TRIOBP):c.6575+14G>A rs577534147 0.00002
NM_001039141.3(TRIOBP):c.96C>T (p.Ala32=) rs563986808 0.00002
NM_001039141.3(TRIOBP):c.1243T>C (p.Ser415Pro) rs768702053 0.00001
NM_001039141.3(TRIOBP):c.1253C>T (p.Ser418Phe) rs761717071 0.00001
NM_001039141.3(TRIOBP):c.1304G>A (p.Arg435Gln) rs756331609 0.00001
NM_001039141.3(TRIOBP):c.1584A>G (p.Thr528=) rs1923981359 0.00001
NM_001039141.3(TRIOBP):c.1867A>G (p.Asn623Asp) rs776644627 0.00001
NM_001039141.3(TRIOBP):c.2018G>A (p.Arg673Lys) rs370666072 0.00001
NM_001039141.3(TRIOBP):c.2026T>C (p.Cys676Arg) rs760301142 0.00001
NM_001039141.3(TRIOBP):c.2039A>T (p.Asp680Val) rs751981183 0.00001
NM_001039141.3(TRIOBP):c.2095T>A (p.Ser699Thr) rs1480483123 0.00001
NM_001039141.3(TRIOBP):c.2674C>G (p.Pro892Ala) rs749092668 0.00001
NM_001039141.3(TRIOBP):c.3060C>T (p.His1020=) rs755648578 0.00001
NM_001039141.3(TRIOBP):c.3062G>A (p.Arg1021Gln) rs748707289 0.00001
NM_001039141.3(TRIOBP):c.3243A>G (p.Gln1081=) rs202174919 0.00001
NM_001039141.3(TRIOBP):c.3341T>C (p.Ile1114Thr) rs1276379492 0.00001
NM_001039141.3(TRIOBP):c.3429C>T (p.Ser1143=) rs370721352 0.00001
NM_001039141.3(TRIOBP):c.3456C>G (p.Asp1152Glu) rs771386143 0.00001
NM_001039141.3(TRIOBP):c.3466G>A (p.Glu1156Lys) rs759911435 0.00001
NM_001039141.3(TRIOBP):c.3518C>T (p.Ser1173Phe) rs201840128 0.00001
NM_001039141.3(TRIOBP):c.3692G>A (p.Arg1231His) rs756780935 0.00001
NM_001039141.3(TRIOBP):c.3992G>C (p.Arg1331Pro) rs770531721 0.00001
NM_001039141.3(TRIOBP):c.4023A>G (p.Gln1341=) rs1601638335 0.00001
NM_001039141.3(TRIOBP):c.4130G>A (p.Trp1377Ter) rs747619979 0.00001
NM_001039141.3(TRIOBP):c.4187C>G (p.Pro1396Arg) rs779935214 0.00001
NM_001039141.3(TRIOBP):c.41A>G (p.Glu14Gly) rs1235885486 0.00001
NM_001039141.3(TRIOBP):c.4843C>A (p.Pro1615Thr) rs764662773 0.00001
NM_001039141.3(TRIOBP):c.4953G>A (p.Pro1651=) rs767990820 0.00001
NM_001039141.3(TRIOBP):c.5247A>G (p.Ser1749=) rs1172498750 0.00001
NM_001039141.3(TRIOBP):c.5259C>T (p.Pro1753=) rs768976690 0.00001
NM_001039141.3(TRIOBP):c.525G>A (p.Pro175=) rs772811639 0.00001
NM_001039141.3(TRIOBP):c.5318G>A (p.Arg1773Gln) rs775160518 0.00001
NM_001039141.3(TRIOBP):c.5322+5329C>T rs544219597 0.00001
NM_001039141.3(TRIOBP):c.536G>T (p.Arg179Leu) rs773013563 0.00001
NM_001039141.3(TRIOBP):c.567G>T (p.Arg189Ser) rs1318164921 0.00001
NM_001039141.3(TRIOBP):c.5693C>T (p.Ser1898Leu) rs727503523 0.00001
NM_001039141.3(TRIOBP):c.5765G>A (p.Arg1922Gln) rs527996515 0.00001
NM_001039141.3(TRIOBP):c.5945G>T (p.Arg1982Leu) rs375192209 0.00001
NM_001039141.3(TRIOBP):c.594T>C (p.Pro198=) rs755203153 0.00001
NM_001039141.3(TRIOBP):c.6049G>A (p.Asp2017Asn) rs766424671 0.00001
NM_001039141.3(TRIOBP):c.6161G>A (p.Arg2054His) rs765284417 0.00001
NM_001039141.3(TRIOBP):c.6169C>T (p.Arg2057Cys) rs763920992 0.00001
NM_001039141.3(TRIOBP):c.637G>A (p.Gly213Ser) rs752834637 0.00001
NM_001039141.3(TRIOBP):c.6513C>T (p.Ser2171=) rs932406836 0.00001
NM_001039141.3(TRIOBP):c.6723G>C (p.Leu2241=) rs756330364 0.00001
NM_001039141.3(TRIOBP):c.6818G>A (p.Arg2273His) rs771315446 0.00001
NM_001039141.3(TRIOBP):c.6840C>T (p.Cys2280=) rs764022321 0.00001
NM_001039141.3(TRIOBP):c.6921C>T (p.Leu2307=) rs1459930862 0.00001
NM_001039141.3(TRIOBP):c.7030G>A (p.Glu2344Lys) rs768427040 0.00001
NM_001039141.3(TRIOBP):c.7054G>A (p.Ala2352Thr) rs377754533 0.00001
GRCh37/hg19 22q13.1(chr22:38118220-38187935)x3
GRCh37/hg19 22q13.1(chr22:38153637-38165339)x1
GRCh37/hg19 22q13.1(chr22:38153699-38165339)x1
NC_000022.10:g.(?_38097373)_(38168769_?)dup
NC_000022.10:g.(?_38111750)_(38111961_?)del
NM_001039141.3(TRIOBP):c.*2+168A>G rs59525183
NM_001039141.3(TRIOBP):c.-60-129G>C rs116432556
NM_001039141.3(TRIOBP):c.1015A>G (p.Thr339Ala)
NM_001039141.3(TRIOBP):c.1059C>T (p.Asn353=) rs2145832365
NM_001039141.3(TRIOBP):c.115-209T>G rs4821690
NM_001039141.3(TRIOBP):c.115-326C>T rs62236745
NM_001039141.3(TRIOBP):c.1157A>C (p.Asp386Ala) rs1293876937
NM_001039141.3(TRIOBP):c.1159G>C (p.Asp387His) rs769836567
NM_001039141.3(TRIOBP):c.118C>T (p.Leu40Phe) rs1555894553
NM_001039141.3(TRIOBP):c.1193_1195del (p.Gln398del) rs55745992
NM_001039141.3(TRIOBP):c.1195C>T (p.Arg399Ter) rs750078356
NM_001039141.3(TRIOBP):c.1222C>T (p.Gln408Ter) rs2145832569
NM_001039141.3(TRIOBP):c.1224G>A (p.Gln408=)
NM_001039141.3(TRIOBP):c.1241C>T (p.Ala414Val)
NM_001039141.3(TRIOBP):c.1263T>C (p.Asn421=) rs566207993
NM_001039141.3(TRIOBP):c.1267G>A (p.Ala423Thr) rs776347710
NM_001039141.3(TRIOBP):c.1331G>A (p.Ser444Asn) rs35105846
NM_001039141.3(TRIOBP):c.1342del (p.Arg448fs)
NM_001039141.3(TRIOBP):c.1396_1464del (p.Thr466_Arg488del) rs2145832780
NM_001039141.3(TRIOBP):c.1417A>G (p.Thr473Ala)
NM_001039141.3(TRIOBP):c.1420C>T (p.Arg474Ter) rs1225633423
NM_001039141.3(TRIOBP):c.1421G>A (p.Arg474Gln)
NM_001039141.3(TRIOBP):c.1433G>C (p.Arg478Thr)
NM_001039141.3(TRIOBP):c.1446C>A (p.Ala482=) rs1258642756
NM_001039141.3(TRIOBP):c.1478G>A (p.Ser493Asn) rs4821700
NM_001039141.3(TRIOBP):c.1508C>T (p.Ser503Phe) rs748198724
NM_001039141.3(TRIOBP):c.1519C>A (p.Arg507=) rs553427948
NM_001039141.3(TRIOBP):c.1530C>T (p.Pro510=)
NM_001039141.3(TRIOBP):c.1534_1542del (p.Ala512_Arg514del) rs1460459635
NM_001039141.3(TRIOBP):c.1576C>T (p.Pro526Ser)
NM_001039141.3(TRIOBP):c.157C>G (p.Leu53Val)
NM_001039141.3(TRIOBP):c.1591G>A (p.Ala531Thr) rs201112075
NM_001039141.3(TRIOBP):c.1591G>C (p.Ala531Pro) rs201112075
NM_001039141.3(TRIOBP):c.1614CTC[1] (p.Ser540del) rs36219868
NM_001039141.3(TRIOBP):c.1627A>G (p.Arg543Gly)
NM_001039141.3(TRIOBP):c.1630_1631delinsAT (p.Ala544Ile)
NM_001039141.3(TRIOBP):c.1633G>T (p.Ala545Ser)
NM_001039141.3(TRIOBP):c.1650A>C (p.Thr550=) rs1923986415
NM_001039141.3(TRIOBP):c.1727_1795del (p.Arg576_Pro598del)
NM_001039141.3(TRIOBP):c.1740C>G (p.Ala580=) rs79945262
NM_001039141.3(TRIOBP):c.1757G>A (p.Arg586Lys)
NM_001039141.3(TRIOBP):c.1779T>C (p.Ala593=)
NM_001039141.3(TRIOBP):c.1799C>T (p.Thr600Ile) rs2145833240
NM_001039141.3(TRIOBP):c.1814G>A (p.Arg605Gln)
NM_001039141.3(TRIOBP):c.1819A>G (p.Asn607Asp) rs2145833266
NM_001039141.3(TRIOBP):c.1839C>G (p.Thr613=)
NM_001039141.3(TRIOBP):c.1864G>T (p.Asp622Tyr) rs1924002416
NM_001039141.3(TRIOBP):c.1866_1867del (p.Asp622fs) rs2145833327
NM_001039141.3(TRIOBP):c.1892G>A (p.Arg631Gln) rs539096864
NM_001039141.3(TRIOBP):c.1903A>G (p.Arg635Gly)
NM_001039141.3(TRIOBP):c.1932A>G (p.Gln644=)
NM_001039141.3(TRIOBP):c.1960C>T (p.Arg654Ter)
NM_001039141.3(TRIOBP):c.1961G>A (p.Arg654Gln) rs557878346
NM_001039141.3(TRIOBP):c.1969G>A (p.Asp657Asn) rs770347004
NM_001039141.3(TRIOBP):c.1991A>G (p.Asn664Ser)
NM_001039141.3(TRIOBP):c.203C>T (p.Thr68Ile)
NM_001039141.3(TRIOBP):c.2061_2132del (p.Ser688_Pro711del) rs1569041188
NM_001039141.3(TRIOBP):c.2079A>G (p.Gln693=)
NM_001039141.3(TRIOBP):c.2082G>C (p.Glu694Asp)
NM_001039141.3(TRIOBP):c.2084A>G (p.Asn695Ser)
NM_001039141.3(TRIOBP):c.2096C>T (p.Ser699Phe)
NM_001039141.3(TRIOBP):c.2112C>T (p.Asp704=)
NM_001039141.3(TRIOBP):c.2178A>G (p.Arg726=)
NM_001039141.3(TRIOBP):c.2208C>T (p.Asn736=)
NM_001039141.3(TRIOBP):c.2235A>G (p.Arg745=)
NM_001039141.3(TRIOBP):c.2249A>T (p.Gln750Leu) rs538895783
NM_001039141.3(TRIOBP):c.2251C>T (p.Arg751Trp)
NM_001039141.3(TRIOBP):c.2266G>A (p.Ala756Thr)
NM_001039141.3(TRIOBP):c.231A>T (p.Pro77=)
NM_001039141.3(TRIOBP):c.2363G>A (p.Arg788Gln)
NM_001039141.3(TRIOBP):c.237C>G (p.Leu79=)
NM_001039141.3(TRIOBP):c.2449_2475del (p.Thr817_Arg825del)
NM_001039141.3(TRIOBP):c.2454T>C (p.Cys818=)
NM_001039141.3(TRIOBP):c.2472del (p.Arg825fs)
NM_001039141.3(TRIOBP):c.2487C>T (p.Thr829=) rs1052665635
NM_001039141.3(TRIOBP):c.251_254+22del rs1555894574
NM_001039141.3(TRIOBP):c.254+173dup rs35554660
NM_001039141.3(TRIOBP):c.254+4G>A rs1923184854
NM_001039141.3(TRIOBP):c.2548C>T (p.Gln850Ter)
NM_001039141.3(TRIOBP):c.255-102G>T rs13055217
NM_001039141.3(TRIOBP):c.255-10C>T
NM_001039141.3(TRIOBP):c.255-242del rs1167207874
NM_001039141.3(TRIOBP):c.255-252AAAT[11] rs368169188
NM_001039141.3(TRIOBP):c.255-252AAAT[12] rs368169188
NM_001039141.3(TRIOBP):c.255-252AAAT[8] rs368169188
NM_001039141.3(TRIOBP):c.255-252AAAT[9] rs368169188
NM_001039141.3(TRIOBP):c.2552G>A (p.Arg851Gln) rs376111106
NM_001039141.3(TRIOBP):c.2609_2619del (p.Gln870fs) rs1180979609
NM_001039141.3(TRIOBP):c.2638C>T (p.Pro880Ser)
NM_001039141.3(TRIOBP):c.2696G>A (p.Arg899His)
NM_001039141.3(TRIOBP):c.2734C>T (p.Arg912Trp)
NM_001039141.3(TRIOBP):c.2735G>A (p.Arg912Gln)
NM_001039141.3(TRIOBP):c.2781C>T (p.Ser927=)
NM_001039141.3(TRIOBP):c.2807C>G (p.Ser936Cys) rs2145834492
NM_001039141.3(TRIOBP):c.2821C>T (p.Pro941Ser)
NM_001039141.3(TRIOBP):c.2914T>C (p.Leu972=)
NM_001039141.3(TRIOBP):c.2939C>T (p.Ser980Phe)
NM_001039141.3(TRIOBP):c.2967C>T (p.Ser989=)
NM_001039141.3(TRIOBP):c.2968C>T (p.Arg990Ter) rs1228392408
NM_001039141.3(TRIOBP):c.2995G>A (p.Ala999Thr)
NM_001039141.3(TRIOBP):c.3057G>A (p.Gly1019=)
NM_001039141.3(TRIOBP):c.3129G>T (p.Glu1043Asp)
NM_001039141.3(TRIOBP):c.3138C>T (p.Ala1046=)
NM_001039141.3(TRIOBP):c.3163G>A (p.Glu1055Lys)
NM_001039141.3(TRIOBP):c.3201C>G (p.His1067Gln) rs767316702
NM_001039141.3(TRIOBP):c.3214C>G (p.Arg1072Gly) rs752019502
NM_001039141.3(TRIOBP):c.3214dup (p.Arg1072fs) rs1485334519
NM_001039141.3(TRIOBP):c.3217G>T (p.Ala1073Ser)
NM_001039141.3(TRIOBP):c.3225G>A (p.Ser1075=)
NM_001039141.3(TRIOBP):c.3241C>A (p.Gln1081Lys)
NM_001039141.3(TRIOBP):c.328G>A (p.Glu110Lys)
NM_001039141.3(TRIOBP):c.3293G>A (p.Cys1098Tyr)
NM_001039141.3(TRIOBP):c.3295C>T (p.Gln1099Ter)
NM_001039141.3(TRIOBP):c.3308A>G (p.His1103Arg)
NM_001039141.3(TRIOBP):c.3333T>A (p.Pro1111=) rs2145835114
NM_001039141.3(TRIOBP):c.3340A>G (p.Ile1114Val)
NM_001039141.3(TRIOBP):c.3358C>T (p.Pro1120Ser) rs1924124311
NM_001039141.3(TRIOBP):c.3441T>C (p.Leu1147=) rs1460916447
NM_001039141.3(TRIOBP):c.3449C>T (p.Ser1150Phe) rs2145835267
NM_001039141.3(TRIOBP):c.3460_3461del (p.Leu1154fs) rs771696726
NM_001039141.3(TRIOBP):c.3465C>T (p.His1155=)
NM_001039141.3(TRIOBP):c.3474C>T (p.Pro1158=)
NM_001039141.3(TRIOBP):c.3487_3533del (p.Pro1163fs) rs1569042640
NM_001039141.3(TRIOBP):c.3492G>A (p.Val1164=)
NM_001039141.3(TRIOBP):c.3536_3537delinsAT (p.Arg1179His)
NM_001039141.3(TRIOBP):c.3556C>T (p.Leu1186Phe)
NM_001039141.3(TRIOBP):c.3616_3617del (p.Leu1206fs)
NM_001039141.3(TRIOBP):c.3652A>G (p.Ile1218Val) rs374934894
NM_001039141.3(TRIOBP):c.3652A>T (p.Ile1218Phe) rs374934894
NM_001039141.3(TRIOBP):c.3655G>A (p.Gly1219Arg)
NM_001039141.3(TRIOBP):c.3699A>C (p.Pro1233=)
NM_001039141.3(TRIOBP):c.3718del (p.Leu1240fs)
NM_001039141.3(TRIOBP):c.3738G>A (p.Pro1246=)
NM_001039141.3(TRIOBP):c.3761G>T (p.Gly1254Val)
NM_001039141.3(TRIOBP):c.3768G>A (p.Ala1256=)
NM_001039141.3(TRIOBP):c.3772C>A (p.Pro1258Thr) rs374553299
NM_001039141.3(TRIOBP):c.3775G>A (p.Gly1259Arg) rs755555403
NM_001039141.3(TRIOBP):c.3802GAG[1] (p.Glu1269del) rs759069108
NM_001039141.3(TRIOBP):c.3803A>G (p.Glu1268Gly) rs1924160280
NM_001039141.3(TRIOBP):c.3810C>T (p.Tyr1270=)
NM_001039141.3(TRIOBP):c.3822C>T (p.Ala1274=)
NM_001039141.3(TRIOBP):c.3823G>A (p.Asp1275Asn)
NM_001039141.3(TRIOBP):c.382G>A (p.Glu128Lys) rs267606244
NM_001039141.3(TRIOBP):c.3831C>G (p.Pro1277=)
NM_001039141.3(TRIOBP):c.3854_3855del (p.Arg1285fs) rs750744696
NM_001039141.3(TRIOBP):c.3890G>A (p.Gly1297Asp)
NM_001039141.3(TRIOBP):c.3911G>A (p.Arg1304His)
NM_001039141.3(TRIOBP):c.3919G>T (p.Val1307Leu) rs750614465
NM_001039141.3(TRIOBP):c.3947+8C>G
NM_001039141.3(TRIOBP):c.3947+8C>T
NM_001039141.3(TRIOBP):c.3955G>A (p.Glu1319Lys)
NM_001039141.3(TRIOBP):c.4062+274_4062+276del rs529942326
NM_001039141.3(TRIOBP):c.4062+275_4062+276del rs529942326
NM_001039141.3(TRIOBP):c.4062+276del rs529942326
NM_001039141.3(TRIOBP):c.4062+276dup rs529942326
NM_001039141.3(TRIOBP):c.4062+2T>C rs1057520081
NM_001039141.3(TRIOBP):c.4063-17C>A rs745578834
NM_001039141.3(TRIOBP):c.4063-17C>T
NM_001039141.3(TRIOBP):c.4087G>C (p.Ala1363Pro)
NM_001039141.3(TRIOBP):c.4100G>A (p.Arg1367Gln)
NM_001039141.3(TRIOBP):c.4102C>T (p.Arg1368Trp)
NM_001039141.3(TRIOBP):c.4170G>A (p.Gln1390=)
NM_001039141.3(TRIOBP):c.4203G>A (p.Arg1401=) rs1373823908
NM_001039141.3(TRIOBP):c.4232_4233del (p.Arg1411fs) rs1233777224
NM_001039141.3(TRIOBP):c.4268C>T (p.Pro1423Leu)
NM_001039141.3(TRIOBP):c.4294G>T (p.Glu1432Ter)
NM_001039141.3(TRIOBP):c.4305G>T (p.Gly1435=)
NM_001039141.3(TRIOBP):c.4316C>T (p.Pro1439Leu)
NM_001039141.3(TRIOBP):c.4320T>C (p.His1440=)
NM_001039141.3(TRIOBP):c.4320_4321del (p.His1440fs)
NM_001039141.3(TRIOBP):c.433G>A (p.Asp145Asn)
NM_001039141.3(TRIOBP):c.4406C>A (p.Ala1469Glu)
NM_001039141.3(TRIOBP):c.4418C>T (p.Pro1473Leu)
NM_001039141.3(TRIOBP):c.4436dup (p.Thr1480fs)
NM_001039141.3(TRIOBP):c.4442C>T (p.Ser1481Phe)
NM_001039141.3(TRIOBP):c.4455G>A (p.Lys1485=)
NM_001039141.3(TRIOBP):c.4526_4527del (p.Arg1509fs) rs1601639680
NM_001039141.3(TRIOBP):c.455T>C (p.Val152Ala)
NM_001039141.3(TRIOBP):c.4567G>A (p.Ala1523Thr)
NM_001039141.3(TRIOBP):c.457-12C>T
NM_001039141.3(TRIOBP):c.4641C>T (p.Tyr1547=)
NM_001039141.3(TRIOBP):c.4644G>A (p.Pro1548=)
NM_001039141.3(TRIOBP):c.4675T>C (p.Trp1559Arg) rs760835420
NM_001039141.3(TRIOBP):c.4691G>C (p.Gly1564Ala)
NM_001039141.3(TRIOBP):c.4703C>G (p.Ala1568Gly) rs569914227
NM_001039141.3(TRIOBP):c.4784G>A (p.Arg1595His)
NM_001039141.3(TRIOBP):c.4875G>A (p.Glu1625=)
NM_001039141.3(TRIOBP):c.4987dup (p.Gln1663fs)
NM_001039141.3(TRIOBP):c.5022G>A (p.Ala1674=)
NM_001039141.3(TRIOBP):c.5051C>T (p.Thr1684Met)
NM_001039141.3(TRIOBP):c.5052G>A (p.Thr1684=) rs41283241
NM_001039141.3(TRIOBP):c.5056C>T (p.Pro1686Ser)
NM_001039141.3(TRIOBP):c.5079G>A (p.Ala1693=)
NM_001039141.3(TRIOBP):c.510C>T (p.Leu170=)
NM_001039141.3(TRIOBP):c.5150A>T (p.Gln1717Leu) rs1924798390
NM_001039141.3(TRIOBP):c.5185-95G>A rs150326668
NM_001039141.3(TRIOBP):c.5207G>A (p.Gly1736Asp) rs866458242
NM_001039141.3(TRIOBP):c.5233C>T (p.Arg1745Ter)
NM_001039141.3(TRIOBP):c.5251C>T (p.Arg1751Trp)
NM_001039141.3(TRIOBP):c.5300_5301del (p.Leu1767fs)
NM_001039141.3(TRIOBP):c.5305del (p.Val1769fs)
NM_001039141.3(TRIOBP):c.5322+5197_5322+5200dup rs58335859
NM_001039141.3(TRIOBP):c.5322+5198_5322+5200dup rs58335859
NM_001039141.3(TRIOBP):c.5322+5199_5322+5200dup rs58335859
NM_001039141.3(TRIOBP):c.5322+5200del rs58335859
NM_001039141.3(TRIOBP):c.5322+5200dup rs58335859
NM_001039141.3(TRIOBP):c.5322+5241A>G
NM_001039141.3(TRIOBP):c.5322+5281GGC[8]
NM_001039141.3(TRIOBP):c.5322+5281GGC[9] rs953748818
NM_001039141.3(TRIOBP):c.5688-230C>G rs5756809
NM_001039141.3(TRIOBP):c.5713G>A (p.Ala1905Thr)
NM_001039141.3(TRIOBP):c.5742C>A (p.Gly1914=) rs761315401
NM_001039141.3(TRIOBP):c.5811C>T (p.Asp1937=)
NM_001039141.3(TRIOBP):c.5881A>G (p.Thr1961Ala)
NM_001039141.3(TRIOBP):c.5890C>G (p.Arg1964Gly) rs565618931
NM_001039141.3(TRIOBP):c.5903G>T (p.Arg1968Leu) rs201211654
NM_001039141.3(TRIOBP):c.5936T>C (p.Leu1979Pro) rs727503524
NM_001039141.3(TRIOBP):c.5944C>T (p.Arg1982Cys) rs752462357
NM_001039141.3(TRIOBP):c.5996A>G (p.Glu1999Gly)
NM_001039141.3(TRIOBP):c.6025G>T (p.Gly2009Cys)
NM_001039141.3(TRIOBP):c.6040C>T (p.Leu2014=)
NM_001039141.3(TRIOBP):c.6051C>T (p.Asp2017=)
NM_001039141.3(TRIOBP):c.6061C>T (p.Arg2021Trp)
NM_001039141.3(TRIOBP):c.6079G>A (p.Glu2027Lys)
NM_001039141.3(TRIOBP):c.6086_6139dup (p.Leu2046_Thr2047insLysTrpGlnGluLeuGluLysLeuProLeuArgGluAsnLysArgValProLeu)
NM_001039141.3(TRIOBP):c.6101A>G (p.Glu2034Gly)
NM_001039141.3(TRIOBP):c.6106C>G (p.Leu2036Val) rs2145870507
NM_001039141.3(TRIOBP):c.6118G>A (p.Glu2040Lys)
NM_001039141.3(TRIOBP):c.6127C>G (p.Arg2043Gly) rs137980797
NM_001039141.3(TRIOBP):c.6141T>G (p.Thr2047=) rs1045638431
NM_001039141.3(TRIOBP):c.6160C>T (p.Arg2054Cys)
NM_001039141.3(TRIOBP):c.6213+268G>C rs73411515
NM_001039141.3(TRIOBP):c.6214-18C>T
NM_001039141.3(TRIOBP):c.6228G>A (p.Arg2076=)
NM_001039141.3(TRIOBP):c.6255A>G (p.Gln2085=) rs2145871867
NM_001039141.3(TRIOBP):c.6260del (p.Glu2087fs) rs2145871872
NM_001039141.3(TRIOBP):c.6272G>C (p.Ser2091Thr) rs78758968
NM_001039141.3(TRIOBP):c.6274G>A (p.Ala2092Thr)
NM_001039141.3(TRIOBP):c.628+18G>T
NM_001039141.3(TRIOBP):c.629-17CT[2] rs780640035
NM_001039141.3(TRIOBP):c.6310G>C (p.Gly2104Arg) rs2145871952
NM_001039141.3(TRIOBP):c.6324+14G>A
NM_001039141.3(TRIOBP):c.6324+16T>G
NM_001039141.3(TRIOBP):c.6324+305G>A rs200050890
NM_001039141.3(TRIOBP):c.6324+8C>T
NM_001039141.3(TRIOBP):c.6324+9G>C
NM_001039141.3(TRIOBP):c.6325-16G>A rs1926450557
NM_001039141.3(TRIOBP):c.6363G>A (p.Ser2121=)
NM_001039141.3(TRIOBP):c.638G>A (p.Gly213Asp)
NM_001039141.3(TRIOBP):c.6393_6416del (p.His2132_Arg2139del)
NM_001039141.3(TRIOBP):c.6415C>T (p.Arg2139Cys)
NM_001039141.3(TRIOBP):c.646C>T (p.Arg216Trp)
NM_001039141.3(TRIOBP):c.6472+11dup
NM_001039141.3(TRIOBP):c.6472+12G>T rs2145878351
NM_001039141.3(TRIOBP):c.6472+13_6472+14insA rs541980281
NM_001039141.3(TRIOBP):c.6472+13_6472+14insC rs541980281
NM_001039141.3(TRIOBP):c.6472+13_6472+14insT rs541980281
NM_001039141.3(TRIOBP):c.6472+14G>C rs45503898
NM_001039141.3(TRIOBP):c.6472+14G>T rs45503898
NM_001039141.3(TRIOBP):c.6472+14_6472+15insA
NM_001039141.3(TRIOBP):c.6472+14_6472+15insC rs546389039
NM_001039141.3(TRIOBP):c.6472+14_6472+15insT rs546389039
NM_001039141.3(TRIOBP):c.6472+15G>A
NM_001039141.3(TRIOBP):c.6472+15_6472+16insA rs149021782
NM_001039141.3(TRIOBP):c.6472+15_6472+16insC rs149021782
NM_001039141.3(TRIOBP):c.6472+15_6472+16insT
NM_001039141.3(TRIOBP):c.6472+16G>C rs754782306
NM_001039141.3(TRIOBP):c.6472+16_6472+17insC rs575380344
NM_001039141.3(TRIOBP):c.6472+17_6472+18insT rs778551400
NM_001039141.3(TRIOBP):c.6472+18G>T rs1926467223
NM_001039141.3(TRIOBP):c.6472+18_6472+19dup rs3833924
NM_001039141.3(TRIOBP):c.6472+18_6472+19insC
NM_001039141.3(TRIOBP):c.6472+19dup rs3833924
NM_001039141.3(TRIOBP):c.647G>A (p.Arg216Gln)
NM_001039141.3(TRIOBP):c.6525C>G (p.Ser2175Arg)
NM_001039141.3(TRIOBP):c.653C>T (p.Ala218Val)
NM_001039141.3(TRIOBP):c.6542A>C (p.Gln2181Pro)
NM_001039141.3(TRIOBP):c.6575+18C>A
NM_001039141.3(TRIOBP):c.6576-207del rs561787977
NM_001039141.3(TRIOBP):c.6576-207dup rs561787977
NM_001039141.3(TRIOBP):c.6599G>A (p.Arg2200Gln)
NM_001039141.3(TRIOBP):c.6609G>C (p.Gln2203His)
NM_001039141.3(TRIOBP):c.661C>T (p.His221Tyr) rs186143100
NM_001039141.3(TRIOBP):c.6629C>T (p.Ser2210Leu)
NM_001039141.3(TRIOBP):c.6630G>A (p.Ser2210=)
NM_001039141.3(TRIOBP):c.6650G>A (p.Gly2217Glu)
NM_001039141.3(TRIOBP):c.6671A>G (p.Glu2224Gly)
NM_001039141.3(TRIOBP):c.6678C>T (p.Arg2226=)
NM_001039141.3(TRIOBP):c.6693C>T (p.Arg2231=)
NM_001039141.3(TRIOBP):c.6735+32del rs34979986
NM_001039141.3(TRIOBP):c.6736-10C>G
NM_001039141.3(TRIOBP):c.6736-13G>A
NM_001039141.3(TRIOBP):c.6736-16A>G
NM_001039141.3(TRIOBP):c.6748C>T (p.Arg2250Cys)
NM_001039141.3(TRIOBP):c.6749G>A (p.Arg2250His)
NM_001039141.3(TRIOBP):c.6778G>A (p.Gly2260Ser)
NM_001039141.3(TRIOBP):c.6849+1G>T rs2145882160
NM_001039141.3(TRIOBP):c.6850-13C>T
NM_001039141.3(TRIOBP):c.6850-6C>A
NM_001039141.3(TRIOBP):c.6850-6C>T rs752052092
NM_001039141.3(TRIOBP):c.6936+13G>T rs727503529
NM_001039141.3(TRIOBP):c.6936+14C>T
NM_001039141.3(TRIOBP):c.6936+15T>C
NM_001039141.3(TRIOBP):c.6957A>G (p.Gly2319=) rs1555901905
NM_001039141.3(TRIOBP):c.6959A>G (p.Lys2320Arg)
NM_001039141.3(TRIOBP):c.6969C>T (p.Asp2323=)
NM_001039141.3(TRIOBP):c.6974A>T (p.Tyr2325Phe) rs186161850
NM_001039141.3(TRIOBP):c.6998C>T (p.Thr2333Ile)
NM_001039141.3(TRIOBP):c.7001G>A (p.Arg2334Gln)
NM_001039141.3(TRIOBP):c.703C>T (p.Arg235Trp)
NM_001039141.3(TRIOBP):c.704G>A (p.Arg235Gln)
NM_001039141.3(TRIOBP):c.7059C>G (p.Leu2353=)
NM_001039141.3(TRIOBP):c.7066_7068del (p.Lys2356del) rs1283797116
NM_001039141.3(TRIOBP):c.7078C>A (p.Arg2360Ser)
NM_001039141.3(TRIOBP):c.7078C>T (p.Arg2360Cys)
NM_001039141.3(TRIOBP):c.710G>A (p.Arg237Gln)
NM_001039141.3(TRIOBP):c.732C>G (p.Ser244=) rs1362976718
NM_001039141.3(TRIOBP):c.817C>T (p.Arg273Cys)
NM_001039141.3(TRIOBP):c.818G>A (p.Arg273His) rs754785011
NM_001039141.3(TRIOBP):c.876C>G (p.Ala292=)
NM_001039141.3(TRIOBP):c.915C>T (p.Thr305=) rs2145832215
NM_001039141.3(TRIOBP):c.93G>A (p.Glu31=)

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