NM_005445.4(SMC3):c.3039A>G (p.Ser1013=)
|
rs2419565
|
0.98861
|
NM_005445.4(SMC3):c.970-8G>A
|
rs11195199
|
0.11151
|
NM_005445.4(SMC3):c.1092-18T>C
|
rs11195200
|
0.11131
|
NM_005445.4(SMC3):c.351-9T>C
|
rs78663177
|
0.06159
|
NM_005445.4(SMC3):c.1365T>C (p.Tyr455=)
|
rs75323904
|
0.06157
|
NM_005445.4(SMC3):c.1092-8T>G
|
rs79912955
|
0.00975
|
NM_005445.4(SMC3):c.2007T>C (p.Tyr669=)
|
rs147404470
|
0.00501
|
NM_005445.4(SMC3):c.1680T>C (p.Tyr560=)
|
rs75817442
|
0.00402
|
NM_005445.4(SMC3):c.2644+6T>A
|
rs201281088
|
0.00359
|
NM_005445.4(SMC3):c.92-19A>G
|
rs140102981
|
0.00310
|
NM_005445.4(SMC3):c.255A>G (p.Ser85=)
|
rs146433240
|
0.00287
|
NM_005445.4(SMC3):c.2934G>A (p.Lys978=)
|
rs147463420
|
0.00135
|
NM_005445.4(SMC3):c.2329T>C (p.Leu777=)
|
rs76625999
|
0.00132
|
NM_005445.4(SMC3):c.1671-6A>G
|
rs200848781
|
0.00124
|
NM_005445.4(SMC3):c.276T>C (p.Asp92=)
|
rs199936534
|
0.00073
|
NM_005445.4(SMC3):c.3495T>A (p.Ala1165=)
|
rs142395521
|
0.00064
|
NM_005445.4(SMC3):c.1280A>G (p.Lys427Arg)
|
rs142524280
|
0.00057
|
NM_005445.4(SMC3):c.2535+18T>G
|
rs370144623
|
0.00051
|
NM_005445.4(SMC3):c.2535+15T>G
|
rs3818903
|
0.00040
|
NM_005445.4(SMC3):c.3259G>A (p.Val1087Ile)
|
rs147743879
|
0.00032
|
NM_005445.4(SMC3):c.2796A>G (p.Leu932=)
|
rs199966664
|
0.00019
|
NM_005445.4(SMC3):c.837A>G (p.Thr279=)
|
rs151335692
|
0.00018
|
NM_005445.4(SMC3):c.2062G>C (p.Glu688Gln)
|
rs201162818
|
0.00013
|
NM_005445.4(SMC3):c.1416G>A (p.Leu472=)
|
rs753327472
|
0.00011
|
NM_005445.4(SMC3):c.2782C>A (p.Arg928=)
|
rs202034783
|
0.00011
|
NM_005445.4(SMC3):c.1581T>C (p.His527=)
|
rs182445355
|
0.00009
|
NM_005445.4(SMC3):c.810C>T (p.Ile270=)
|
rs148729748
|
0.00009
|
NM_005445.4(SMC3):c.970-14T>C
|
rs200511874
|
0.00009
|
NM_005445.4(SMC3):c.2493T>C (p.Tyr831=)
|
rs112525060
|
0.00007
|
NM_005445.4(SMC3):c.1670+6_1670+7insAAC
|
rs766155607
|
0.00006
|
NM_005445.4(SMC3):c.2427+10C>G
|
rs759235379
|
0.00006
|
NM_005445.4(SMC3):c.2268+4C>T
|
rs587784426
|
0.00004
|
NM_005445.4(SMC3):c.507C>T (p.Asp169=)
|
rs370909218
|
0.00004
|
NM_005445.4(SMC3):c.1410-20G>A
|
rs772063912
|
0.00003
|
NM_005445.4(SMC3):c.1241C>T (p.Ala414Val)
|
rs555886077
|
0.00002
|
NM_005445.4(SMC3):c.1670+7G>A
|
rs762555190
|
0.00002
|
NM_005445.4(SMC3):c.2427+6T>C
|
rs779451107
|
0.00002
|
NM_005445.4(SMC3):c.3106-18A>G
|
rs372748192
|
0.00002
|
NM_005445.4(SMC3):c.1671-4T>C
|
rs201392611
|
0.00001
|
NM_005445.4(SMC3):c.2163C>T (p.Ile721=)
|
rs1193209124
|
0.00001
|
NM_005445.4(SMC3):c.2352T>C (p.Asp784=)
|
rs768545555
|
0.00001
|
NM_005445.4(SMC3):c.2498A>G (p.Asn833Ser)
|
rs777828072
|
0.00001
|
NM_005445.4(SMC3):c.3228G>A (p.Glu1076=)
|
rs768560730
|
0.00001
|
NM_005445.4(SMC3):c.3339A>G (p.Gln1113=)
|
rs189703529
|
0.00001
|
NM_005445.4(SMC3):c.3363C>T (p.Ser1121=)
|
rs1332828083
|
0.00001
|
NM_005445.4(SMC3):c.372C>T (p.Leu124=)
|
rs972620847
|
0.00001
|
NM_005445.4(SMC3):c.621G>A (p.Lys207=)
|
rs1412736656
|
0.00001
|
NM_005445.4(SMC3):c.959G>C (p.Ser320Thr)
|
rs755859881
|
0.00001
|
NC_000010.10:g.(?_111860412)_(112839579_?)dup
|
|
|
NM_005445.4(SMC3):c.1032G>C (p.Leu344=)
|
|
|
NM_005445.4(SMC3):c.1037A>G (p.Glu346Gly)
|
|
|
NM_005445.4(SMC3):c.1050A>G (p.Lys350=)
|
|
|
NM_005445.4(SMC3):c.1091+17C>T
|
|
|
NM_005445.4(SMC3):c.1091+19A>G
|
|
|
NM_005445.4(SMC3):c.1101A>G (p.Gln367=)
|
|
|
NM_005445.4(SMC3):c.1113A>G (p.Glu371=)
|
|
|
NM_005445.4(SMC3):c.1119G>A (p.Thr373=)
|
|
|
NM_005445.4(SMC3):c.1127A>C (p.Tyr376Ser)
|
|
|
NM_005445.4(SMC3):c.1229A>G (p.Lys410Arg)
|
|
|
NM_005445.4(SMC3):c.125T>C (p.Phe42Ser)
|
rs1554881901
|
|
NM_005445.4(SMC3):c.130+17G>T
|
|
|
NM_005445.4(SMC3):c.131-20A>G
|
|
|
NM_005445.4(SMC3):c.131-3C>T
|
|
|
NM_005445.4(SMC3):c.1338T>C (p.Ala446=)
|
|
|
NM_005445.4(SMC3):c.1393C>T (p.Leu465=)
|
|
|
NM_005445.4(SMC3):c.1407A>G (p.Arg469=)
|
|
|
NM_005445.4(SMC3):c.1409+19G>A
|
|
|
NM_005445.4(SMC3):c.1409+20_1409+21del
|
|
|
NM_005445.4(SMC3):c.1409+8T>C
|
|
|
NM_005445.4(SMC3):c.1410-11_1410-6del
|
|
|
NM_005445.4(SMC3):c.1410-6_1410-3del
|
rs546049291
|
|
NM_005445.4(SMC3):c.1417T>C (p.Trp473Arg)
|
rs1861180567
|
|
NM_005445.4(SMC3):c.1445C>A (p.Ala482Glu)
|
|
|
NM_005445.4(SMC3):c.1451C>G (p.Ala484Gly)
|
rs758758728
|
|
NM_005445.4(SMC3):c.1480_1481dup (p.Gln494fs)
|
|
|
NM_005445.4(SMC3):c.15+11C>T
|
|
|
NM_005445.4(SMC3):c.15+12G>A
|
|
|
NM_005445.4(SMC3):c.15+5_15+12del
|
|
|
NM_005445.4(SMC3):c.15+8C>G
|
|
|
NM_005445.4(SMC3):c.1505G>A (p.Gly502Glu)
|
|
|
NM_005445.4(SMC3):c.1509+16del
|
|
|
NM_005445.4(SMC3):c.1509+4G>C
|
|
|
NM_005445.4(SMC3):c.1509+5G>C
|
|
|
NM_005445.4(SMC3):c.1510-7C>A
|
|
|
NM_005445.4(SMC3):c.1538A>G (p.Asn513Ser)
|
|
|
NM_005445.4(SMC3):c.1575C>T (p.Asn525=)
|
|
|
NM_005445.4(SMC3):c.1584T>C (p.Val528=)
|
|
|
NM_005445.4(SMC3):c.16-16G>A
|
|
|
NM_005445.4(SMC3):c.1644A>G (p.Thr548=)
|
|
|
NM_005445.4(SMC3):c.1670+20A>G
|
|
|
NM_005445.4(SMC3):c.1670+6del
|
|
|
NM_005445.4(SMC3):c.1772A>C (p.Asn591Thr)
|
|
|
NM_005445.4(SMC3):c.1783G>A (p.Val595Ile)
|
|
|
NM_005445.4(SMC3):c.1797C>A (p.Ala599=)
|
|
|
NM_005445.4(SMC3):c.1799A>G (p.Tyr600Cys)
|
rs780811321
|
|
NM_005445.4(SMC3):c.1803T>C (p.Pro601=)
|
|
|
NM_005445.4(SMC3):c.1812+16A>T
|
|
|
NM_005445.4(SMC3):c.1813-19G>A
|
|
|
NM_005445.4(SMC3):c.181C>T (p.Arg61Trp)
|
rs866273473
|
|
NM_005445.4(SMC3):c.1890T>A (p.Thr630=)
|
rs79046607
|
|
NM_005445.4(SMC3):c.1892T>C (p.Leu631Pro)
|
|
|
NM_005445.4(SMC3):c.1901G>A (p.Arg634His)
|
rs2134740210
|
|
NM_005445.4(SMC3):c.1925T>C (p.Leu642Pro)
|
rs1590563617
|
|
NM_005445.4(SMC3):c.1942A>G (p.Met648Val)
|
rs886041239
|
|
NM_005445.4(SMC3):c.1963+16T>C
|
|
|
NM_005445.4(SMC3):c.1964-13G>A
|
|
|
NM_005445.4(SMC3):c.1964-15_1964-14del
|
|
|
NM_005445.4(SMC3):c.1964-17A>G
|
|
|
NM_005445.4(SMC3):c.198+3G>A
|
rs533706811
|
|
NM_005445.4(SMC3):c.199-15T>G
|
|
|
NM_005445.4(SMC3):c.2024G>A (p.Arg675Gln)
|
rs2134745310
|
|
NM_005445.4(SMC3):c.2056GAA[2] (p.Glu688del)
|
rs755507236
|
|
NM_005445.4(SMC3):c.2099T>C (p.Leu700Pro)
|
rs2134745404
|
|
NM_005445.4(SMC3):c.2102G>A (p.Arg701His)
|
|
|
NM_005445.4(SMC3):c.2116+10T>A
|
|
|
NM_005445.4(SMC3):c.2117-15C>T
|
|
|
NM_005445.4(SMC3):c.2213A>C (p.Glu738Ala)
|
rs2134747764
|
|
NM_005445.4(SMC3):c.2226A>G (p.Leu742=)
|
|
|
NM_005445.4(SMC3):c.2268+5G>C
|
|
|
NM_005445.4(SMC3):c.2273G>A (p.Arg758His)
|
|
|
NM_005445.4(SMC3):c.2347A>C (p.Thr783Pro)
|
|
|
NM_005445.4(SMC3):c.2428-6T>A
|
|
|
NM_005445.4(SMC3):c.2530G>T (p.Glu844Ter)
|
|
|
NM_005445.4(SMC3):c.2535+11G>T
|
|
|
NM_005445.4(SMC3):c.2535+13T>G
|
|
|
NM_005445.4(SMC3):c.2535+15_2535+16insG
|
|
|
NM_005445.4(SMC3):c.2535+9G>T
|
|
|
NM_005445.4(SMC3):c.2558C>G (p.Thr853Arg)
|
|
|
NM_005445.4(SMC3):c.2590T>C (p.Ser864Pro)
|
|
|
NM_005445.4(SMC3):c.263G>A (p.Arg88Gln)
|
|
|
NM_005445.4(SMC3):c.2645-13C>T
|
|
|
NM_005445.4(SMC3):c.2645-17G>T
|
|
|
NM_005445.4(SMC3):c.2645-8del
|
|
|
NM_005445.4(SMC3):c.264G>T (p.Arg88=)
|
|
|
NM_005445.4(SMC3):c.2651A>G (p.Asp884Gly)
|
|
|
NM_005445.4(SMC3):c.2658C>T (p.Ser886=)
|
rs2134752535
|
|
NM_005445.4(SMC3):c.2670A>G (p.Thr890=)
|
|
|
NM_005445.4(SMC3):c.2688G>A (p.Glu896=)
|
|
|
NM_005445.4(SMC3):c.270+17_270+18del
|
|
|
NM_005445.4(SMC3):c.270+18del
|
|
|
NM_005445.4(SMC3):c.270+18dup
|
rs756099489
|
|
NM_005445.4(SMC3):c.2707C>T (p.Arg903Cys)
|
|
|
NM_005445.4(SMC3):c.271-12A>G
|
|
|
NM_005445.4(SMC3):c.271-6T>G
|
|
|
NM_005445.4(SMC3):c.2733T>C (p.His911=)
|
|
|
NM_005445.4(SMC3):c.2739T>G (p.Asp913Glu)
|
|
|
NM_005445.4(SMC3):c.273C>T (p.Ile91=)
|
|
|
NM_005445.4(SMC3):c.2802G>A (p.Lys934=)
|
|
|
NM_005445.4(SMC3):c.2835A>G (p.Glu945=)
|
|
|
NM_005445.4(SMC3):c.2892+3T>A
|
|
|
NM_005445.4(SMC3):c.2893-15A>G
|
|
|
NM_005445.4(SMC3):c.2893-17A>G
|
|
|
NM_005445.4(SMC3):c.2899C>T (p.Arg967Ter)
|
|
|
NM_005445.4(SMC3):c.2943T>C (p.His981=)
|
|
|
NM_005445.4(SMC3):c.2982C>G (p.Ser994=)
|
|
|
NM_005445.4(SMC3):c.3072G>T (p.Arg1024=)
|
|
|
NM_005445.4(SMC3):c.309T>C (p.Gly103=)
|
|
|
NM_005445.4(SMC3):c.3105+15G>A
|
|
|
NM_005445.4(SMC3):c.3105+3A>T
|
|
|
NM_005445.4(SMC3):c.3106-10T>C
|
|
|
NM_005445.4(SMC3):c.3106-8_3106-4del
|
|
|
NM_005445.4(SMC3):c.3168G>A (p.Val1056=)
|
|
|
NM_005445.4(SMC3):c.3183T>A (p.Asp1061Glu)
|
|
|
NM_005445.4(SMC3):c.3212_3214del (p.Gly1071del)
|
|
|
NM_005445.4(SMC3):c.3231T>A (p.Ser1077Arg)
|
|
|
NM_005445.4(SMC3):c.3252A>G (p.Gln1084=)
|
|
|
NM_005445.4(SMC3):c.3263C>G (p.Pro1088Arg)
|
|
|
NM_005445.4(SMC3):c.3298-17_3298-13del
|
|
|
NM_005445.4(SMC3):c.3298-3dup
|
rs750133429
|
|
NM_005445.4(SMC3):c.33T>C (p.Phe11=)
|
|
|
NM_005445.4(SMC3):c.3400T>C (p.Cys1134Arg)
|
rs1554884207
|
|
NM_005445.4(SMC3):c.3408G>A (p.Pro1136=)
|
|
|
NM_005445.4(SMC3):c.3411T>A (p.Ala1137=)
|
|
|
NM_005445.4(SMC3):c.3411T>C (p.Ala1137=)
|
|
|
NM_005445.4(SMC3):c.3475+12G>A
|
|
|
NM_005445.4(SMC3):c.3476-18A>G
|
|
|
NM_005445.4(SMC3):c.3488A>G (p.Glu1163Gly)
|
rs1861413861
|
|
NM_005445.4(SMC3):c.350+12T>C
|
|
|
NM_005445.4(SMC3):c.350+19T>C
|
|
|
NM_005445.4(SMC3):c.350+21del
|
|
|
NM_005445.4(SMC3):c.350+21dup
|
|
|
NM_005445.4(SMC3):c.351-13T>C
|
|
|
NM_005445.4(SMC3):c.351-4A>G
|
|
|
NM_005445.4(SMC3):c.3520A>G (p.Thr1174Ala)
|
|
|
NM_005445.4(SMC3):c.3528G>A (p.Arg1176=)
|
|
|
NM_005445.4(SMC3):c.3530C>G (p.Pro1177Arg)
|
|
|
NM_005445.4(SMC3):c.3534A>G (p.Glu1178=)
|
|
|
NM_005445.4(SMC3):c.3549T>C (p.Ala1183=)
|
|
|
NM_005445.4(SMC3):c.3582+18T>C
|
|
|
NM_005445.4(SMC3):c.3582+19_3582+24del
|
rs758854216
|
|
NM_005445.4(SMC3):c.3583-19T>C
|
|
|
NM_005445.4(SMC3):c.3600G>T (p.Val1200=)
|
|
|
NM_005445.4(SMC3):c.363G>A (p.Val121=)
|
|
|
NM_005445.4(SMC3):c.381C>T (p.Ser127=)
|
|
|
NM_005445.4(SMC3):c.384T>C (p.Ala128=)
|
|
|
NM_005445.4(SMC3):c.386G>T (p.Gly129Val)
|
|
|
NM_005445.4(SMC3):c.424G>A (p.Gly142Arg)
|
rs1554882316
|
|
NM_005445.4(SMC3):c.429+16G>T
|
|
|
NM_005445.4(SMC3):c.429+19C>A
|
|
|
NM_005445.4(SMC3):c.429+19C>T
|
|
|
NM_005445.4(SMC3):c.429+9A>G
|
|
|
NM_005445.4(SMC3):c.430-18T>A
|
|
|
NM_005445.4(SMC3):c.430-19A>T
|
|
|
NM_005445.4(SMC3):c.430-3T>C
|
|
|
NM_005445.4(SMC3):c.538A>C (p.Lys180Gln)
|
|
|
NM_005445.4(SMC3):c.547+6A>G
|
|
|
NM_005445.4(SMC3):c.548-5_548-4dup
|
rs199906378
|
|
NM_005445.4(SMC3):c.548-8C>A
|
|
|
NM_005445.4(SMC3):c.548-8C>G
|
|
|
NM_005445.4(SMC3):c.577T>C (p.Leu193=)
|
|
|
NM_005445.4(SMC3):c.588T>C (p.Ile196=)
|
|
|
NM_005445.4(SMC3):c.624A>C (p.Glu208Asp)
|
|
|
NM_005445.4(SMC3):c.661C>T (p.Arg221Ter)
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rs1564789897
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NM_005445.4(SMC3):c.69C>T (p.Phe23=)
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NM_005445.4(SMC3):c.723+20C>T
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NM_005445.4(SMC3):c.723+6A>G
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NM_005445.4(SMC3):c.724-15T>G
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NM_005445.4(SMC3):c.724-6dup
|
rs11380915
|
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NM_005445.4(SMC3):c.786T>A (p.Asp262Glu)
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NM_005445.4(SMC3):c.804+14C>T
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NM_005445.4(SMC3):c.8T>G (p.Ile3Arg)
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NM_005445.4(SMC3):c.909T>G (p.Thr303=)
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NM_005445.4(SMC3):c.913T>G (p.Leu305Val)
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NM_005445.4(SMC3):c.92-18del
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NM_005445.4(SMC3):c.945A>G (p.Glu315=)
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NM_005445.4(SMC3):c.969+14C>T
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NM_005445.4(SMC3):c.969+16A>G
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rs2134726700
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NM_005445.4(SMC3):c.969+17A>G
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NM_005445.4(SMC3):c.970-4A>G
|
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NM_005445.4(SMC3):c.993G>C (p.Gln331His)
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