NC_000002.12:g.(?_216414695)_(216416317_?)del
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NC_000002.12:g.(?_216416237)_(216416327_?)del
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NC_000002.12:g.216412428T>C
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NC_000002.12:g.216412444G>C
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NC_000002.12:g.216412482C>G
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NM_001127207.2(SMARCAL1):c.2542G>T (p.Glu848Ter)
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rs119473033 |
NM_001127207.2(SMARCAL1):c.268_269CA[1] (p.His90fs)
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rs1574443133 |
NM_014140.3(SMARCAL1):c.*13G>T
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rs760333596 |
NM_014140.3(SMARCAL1):c.*30T>G
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rs186052380 |
NM_014140.3(SMARCAL1):c.-114G>A
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rs561221026 |
NM_014140.3(SMARCAL1):c.-137A>G
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rs115172989 |
NM_014140.3(SMARCAL1):c.-141G>A
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rs542884297 |
NM_014140.3(SMARCAL1):c.-164G>A
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rs767342189 |
NM_014140.3(SMARCAL1):c.-170C>T
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rs886055614 |
NM_014140.3(SMARCAL1):c.-200G>A
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rs79352134 |
NM_014140.3(SMARCAL1):c.-218C>T
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rs3755141 |
NM_014140.3(SMARCAL1):c.-48C>A
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rs576450027 |
NM_014140.3(SMARCAL1):c.-82T>C
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rs886055615 |
NM_014140.3(SMARCAL1):c.1001G>A (p.Arg334Gln)
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rs138575228 |
NM_014140.3(SMARCAL1):c.100C>T (p.Gln34Ter)
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rs119473035 |
NM_014140.3(SMARCAL1):c.1030G>A (p.Glu344Lys)
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rs370663120 |
NM_014140.3(SMARCAL1):c.1064C>T (p.Ala355Val)
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rs772913825 |
NM_014140.3(SMARCAL1):c.1069T>A (p.Phe357Ile)
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rs369180164 |
NM_014140.3(SMARCAL1):c.1129G>C (p.Glu377Gln)
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rs2066518 |
NM_014140.3(SMARCAL1):c.1132G>T (p.Glu378Ter)
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rs864309531 |
NM_014140.3(SMARCAL1):c.1190del (p.Leu397fs)
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rs766291662 |
NM_014140.3(SMARCAL1):c.1196C>T (p.Thr399Met)
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rs139872089 |
NM_014140.3(SMARCAL1):c.1212G>A (p.Ala404=)
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rs2066525 |
NM_014140.3(SMARCAL1):c.1243A>G (p.Ser415Gly)
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rs58848916 |
NM_014140.3(SMARCAL1):c.1251G>A (p.Thr417=)
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rs372331472 |
NM_014140.3(SMARCAL1):c.1271A>T (p.Asp424Val)
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rs2066520 |
NM_014140.3(SMARCAL1):c.127G>A (p.Ala43Thr)
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rs2066524 |
NM_014140.3(SMARCAL1):c.1297G>A (p.Val433Met)
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rs374696042 |
NM_014140.3(SMARCAL1):c.1317T>G (p.Phe439Leu)
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rs771757954 |
NM_014140.3(SMARCAL1):c.1375G>A (p.Asp459Asn)
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rs1574456732 |
NM_014140.3(SMARCAL1):c.1384_1389dup (p.Leu462_Gly463dup)
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rs1553526162 |
NM_014140.3(SMARCAL1):c.1407C>T (p.Ile469=)
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rs750621192 |
NM_014140.3(SMARCAL1):c.1413C>T (p.Ile471=)
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rs149599324 |
NM_014140.3(SMARCAL1):c.1414G>A (p.Ala472Thr)
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rs571392819 |
NM_014140.3(SMARCAL1):c.1427G>A (p.Arg476Gln)
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rs142164846 |
NM_014140.3(SMARCAL1):c.1453G>T (p.Val485Leu)
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rs1574456834 |
NM_014140.3(SMARCAL1):c.1485+8G>A
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rs886055617 |
NM_014140.3(SMARCAL1):c.1553G>A (p.Arg518His)
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rs774075396 |
NM_014140.3(SMARCAL1):c.1594C>T (p.Leu532Phe)
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rs968239393 |
NM_014140.3(SMARCAL1):c.1643T>A (p.Ile548Asn)
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rs119473036 |
NM_014140.3(SMARCAL1):c.1727T>C (p.Ile576Thr)
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rs138819354 |
NM_014140.3(SMARCAL1):c.1732T>C (p.Leu578=)
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rs370667576 |
NM_014140.3(SMARCAL1):c.1756C>T (p.Arg586Trp)
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rs119473038 |
NM_014140.3(SMARCAL1):c.1762G>A (p.Ala588Thr)
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rs769553029 |
NM_014140.3(SMARCAL1):c.1786G>A (p.Ala596Thr)
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rs143100109 |
NM_014140.3(SMARCAL1):c.179A>C (p.Glu60Ala)
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rs766086132 |
NM_014140.3(SMARCAL1):c.1851+5G>A
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rs2066514 |
NM_014140.3(SMARCAL1):c.1933C>T (p.Arg645Cys)
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rs119473037 |
NM_014140.3(SMARCAL1):c.1947C>T (p.Asp649=)
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rs2066526 |
NM_014140.3(SMARCAL1):c.1993G>T (p.Ala665Ser)
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rs768868466 |
NM_014140.3(SMARCAL1):c.1995C>T (p.Ala665=)
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rs151241914 |
NM_014140.3(SMARCAL1):c.2009A>G (p.Asn670Ser)
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rs752621052 |
NM_014140.3(SMARCAL1):c.2070T>C (p.Thr690=)
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rs2066527 |
NM_014140.3(SMARCAL1):c.2114C>T (p.Thr705Ile)
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rs200644381 |
NM_014140.3(SMARCAL1):c.2141T>C (p.Ile714Thr)
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rs372158077 |
NM_014140.3(SMARCAL1):c.2225C>T (p.Thr742Met)
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rs2271336 |
NM_014140.3(SMARCAL1):c.2226G>A (p.Thr742=)
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rs2271335 |
NM_014140.3(SMARCAL1):c.2260C>T (p.Arg754Cys)
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rs1226816517 |
NM_014140.3(SMARCAL1):c.2290C>T (p.Arg764Trp)
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rs1480919035 |
NM_014140.3(SMARCAL1):c.2291G>A (p.Arg764Gln)
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rs267607071 |
NM_014140.3(SMARCAL1):c.2321C>A (p.Ser774Ter)
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rs149425324 |
NM_014140.3(SMARCAL1):c.2322G>A (p.Ser774=)
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rs139445683 |
NM_014140.3(SMARCAL1):c.2340C>T (p.Ala780=)
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rs780778758 |
NM_014140.3(SMARCAL1):c.2401T>G (p.Phe801Val)
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rs200679534 |
NM_014140.3(SMARCAL1):c.2427+9C>T
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rs201601053 |
NM_014140.3(SMARCAL1):c.2497G>A (p.Val833Met)
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rs756015461 |
NM_014140.3(SMARCAL1):c.2528+15G>A
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rs200879397 |
NM_014140.3(SMARCAL1):c.2528+5G>C
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rs145908212 |
NM_014140.3(SMARCAL1):c.2570G>A (p.Gly857Glu)
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rs1553535161 |
NM_014140.3(SMARCAL1):c.2600C>T (p.Thr867Ile)
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rs752153044 |
NM_014140.3(SMARCAL1):c.2641A>C (p.Lys881Gln)
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rs190386780 |
NM_014140.3(SMARCAL1):c.2658_2659delinsTT (p.Gln887Ter)
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rs1559140275 |
NM_014140.3(SMARCAL1):c.2712G>A (p.Glu904=)
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rs150767214 |
NM_014140.3(SMARCAL1):c.2735C>T (p.Ser912Leu)
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rs763670564 |
NM_014140.3(SMARCAL1):c.2765T>C (p.Met922Thr)
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rs200431186 |
NM_014140.3(SMARCAL1):c.2768G>A (p.Gly923Glu)
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rs1559140332 |
NM_014140.3(SMARCAL1):c.340C>G (p.Arg114Gly)
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rs202031614 |
NM_014140.3(SMARCAL1):c.341G>A (p.Arg114His)
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rs11555797 |
NM_014140.3(SMARCAL1):c.415_416del (p.Leu139fs)
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rs781023326 |
NM_014140.3(SMARCAL1):c.423T>C (p.Tyr141=)
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rs35907255 |
NM_014140.3(SMARCAL1):c.488C>A (p.Thr163Asn)
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rs748188404 |
NM_014140.3(SMARCAL1):c.49C>T (p.Arg17Ter)
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rs119473034 |
NM_014140.3(SMARCAL1):c.506A>G (p.Lys169Arg)
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rs777999697 |
NM_014140.3(SMARCAL1):c.565A>G (p.Lys189Glu)
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rs754147208 |
NM_014140.3(SMARCAL1):c.600G>A (p.Ser200=)
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rs530505647 |
NM_014140.3(SMARCAL1):c.603G>C (p.Gly201=)
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rs35048226 |
NM_014140.3(SMARCAL1):c.72A>G (p.Arg24=)
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rs199805770 |
NM_014140.3(SMARCAL1):c.734G>A (p.Gly245Asp)
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rs1574443795 |
NM_014140.3(SMARCAL1):c.735C>T (p.Gly245=)
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rs149510554 |
NM_014140.3(SMARCAL1):c.76G>A (p.Glu26Lys)
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rs886055616 |
NM_014140.3(SMARCAL1):c.776T>C (p.Ile259Thr)
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rs750671325 |
NM_014140.3(SMARCAL1):c.812-15T>C
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rs375588610 |
NM_014140.3(SMARCAL1):c.836T>C (p.Phe279Ser)
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rs775057827 |
NM_014140.3(SMARCAL1):c.863-2A>G
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rs761546902 |
NM_014140.3(SMARCAL1):c.863-9C>G
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rs188833040 |
NM_014140.3(SMARCAL1):c.901C>G (p.Pro301Ala)
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rs146084305 |
NM_014140.3(SMARCAL1):c.922A>G (p.Ser308Gly)
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rs1312214950 |
NM_014140.3(SMARCAL1):c.927C>T (p.Ser309=)
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rs139949668 |
NM_014140.3(SMARCAL1):c.945C>G (p.Ser315Arg)
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rs2066522 |
NM_014140.3(SMARCAL1):c.960C>T (p.Ala320=)
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rs2066513 |
NM_014140.3(SMARCAL1):c.962G>A (p.Gly321Asp)
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rs148752234 |
NM_014140.4(SMARCAL1):c.1031A>G (p.Glu344Gly)
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NM_014140.4(SMARCAL1):c.1147+8G>A
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rs759562755 |
NM_014140.4(SMARCAL1):c.1160G>A (p.Arg387His)
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NM_014140.4(SMARCAL1):c.117C>T (p.Gly39=)
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rs565316605 |
NM_014140.4(SMARCAL1):c.1210del (p.Ala404fs)
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NM_014140.4(SMARCAL1):c.1248dup (p.Thr417fs)
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rs535448005 |
NM_014140.4(SMARCAL1):c.1296C>T (p.Leu432=)
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rs151159565 |
NM_014140.4(SMARCAL1):c.1360C>T (p.Leu454=)
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rs753714268 |
NM_014140.4(SMARCAL1):c.1374C>T (p.Asp458=)
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rs200566186 |
NM_014140.4(SMARCAL1):c.1402G>C (p.Ala468Pro)
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NM_014140.4(SMARCAL1):c.1439C>T (p.Pro480Leu)
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NM_014140.4(SMARCAL1):c.1440G>A (p.Pro480=)
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rs367557310 |
NM_014140.4(SMARCAL1):c.1443C>T (p.Leu481=)
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rs751122020 |
NM_014140.4(SMARCAL1):c.1469G>A (p.Arg490His)
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NM_014140.4(SMARCAL1):c.1486-6C>T
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rs1390292771 |
NM_014140.4(SMARCAL1):c.1503del (p.Pro502fs)
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NM_014140.4(SMARCAL1):c.1534G>A (p.Val512Met)
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rs35087810 |
NM_014140.4(SMARCAL1):c.1552C>T (p.Arg518Cys)
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NM_014140.4(SMARCAL1):c.1622C>A (p.Thr541Asn)
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NM_014140.4(SMARCAL1):c.1642A>G (p.Ile548Val)
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NM_014140.4(SMARCAL1):c.1644+1G>T
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NM_014140.4(SMARCAL1):c.1645-10T>C
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rs780292291 |
NM_014140.4(SMARCAL1):c.1687C>T (p.Arg563Ter)
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NM_014140.4(SMARCAL1):c.1699C>A (p.Pro567Thr)
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NM_014140.4(SMARCAL1):c.1701G>A (p.Pro567=)
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rs763289234 |
NM_014140.4(SMARCAL1):c.1736C>T (p.Ser579Leu)
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NM_014140.4(SMARCAL1):c.1761C>T (p.Pro587=)
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rs781340148 |
NM_014140.4(SMARCAL1):c.1776G>A (p.Thr592=)
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rs372995559 |
NM_014140.4(SMARCAL1):c.1785C>T (p.Ile595=)
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rs145825654 |
NM_014140.4(SMARCAL1):c.1863G>A (p.Gly621=)
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rs777370537 |
NM_014140.4(SMARCAL1):c.189G>A (p.Lys63=)
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rs1360338749 |
NM_014140.4(SMARCAL1):c.1908G>A (p.Leu636=)
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rs375844575 |
NM_014140.4(SMARCAL1):c.1934_1935del (p.Arg645fs)
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NM_014140.4(SMARCAL1):c.1944C>T (p.Ser648=)
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rs752241342 |
NM_014140.4(SMARCAL1):c.1948G>A (p.Val650Ile)
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rs200734842 |
NM_014140.4(SMARCAL1):c.2083A>C (p.Lys695Gln)
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NM_014140.4(SMARCAL1):c.2141+1G>A
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NM_014140.4(SMARCAL1):c.2243A>T (p.Lys748Met)
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NM_014140.4(SMARCAL1):c.2247C>T (p.His749=)
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rs775975242 |
NM_014140.4(SMARCAL1):c.2263A>G (p.Ile755Val)
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NM_014140.4(SMARCAL1):c.2295G>A (p.Glu765=)
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NM_014140.4(SMARCAL1):c.2316A>G (p.Gln772=)
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NM_014140.4(SMARCAL1):c.2341G>A (p.Val781Met)
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NM_014140.4(SMARCAL1):c.2364T>C (p.Asn788=)
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rs2066517 |
NM_014140.4(SMARCAL1):c.236C>T (p.Ser79Leu)
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NM_014140.4(SMARCAL1):c.2389G>A (p.Asp797Asn)
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NM_014140.4(SMARCAL1):c.2425G>A (p.Gly809Arg)
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NM_014140.4(SMARCAL1):c.2427+1G>A
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rs1559138455 |
NM_014140.4(SMARCAL1):c.2459G>A (p.Arg820His)
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rs200666300 |
NM_014140.4(SMARCAL1):c.2496C>T (p.Leu832=)
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rs750345128 |
NM_014140.4(SMARCAL1):c.250dup (p.Gln84fs)
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NM_014140.4(SMARCAL1):c.2532C>T (p.Pro844=)
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rs747379387 |
NM_014140.4(SMARCAL1):c.2534T>A (p.Leu845Gln)
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NM_014140.4(SMARCAL1):c.258T>G (p.Pro86=)
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rs763888223 |
NM_014140.4(SMARCAL1):c.2649C>T (p.Tyr883=)
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rs182217350 |
NM_014140.4(SMARCAL1):c.334_340dup (p.Arg114fs)
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NM_014140.4(SMARCAL1):c.364A>G (p.Ile122Val)
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NM_014140.4(SMARCAL1):c.365_366TC[2] (p.Pro124fs)
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rs1574443257 |
NM_014140.4(SMARCAL1):c.379G>C (p.Ala127Pro)
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NM_014140.4(SMARCAL1):c.408A>G (p.Gln136=)
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rs1574443312 |
NM_014140.4(SMARCAL1):c.422A>G (p.Tyr141Cys)
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NM_014140.4(SMARCAL1):c.445C>T (p.Gln149Ter)
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NM_014140.4(SMARCAL1):c.532G>T (p.Ala178Ser)
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NM_014140.4(SMARCAL1):c.549G>T (p.Gln183His)
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NM_014140.4(SMARCAL1):c.677C>T (p.Ser226Leu)
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NM_014140.4(SMARCAL1):c.67C>T (p.Arg23Cys)
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NM_014140.4(SMARCAL1):c.693A>C (p.Gln231His)
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NM_014140.4(SMARCAL1):c.69C>G (p.Arg23=)
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rs1574442911 |
NM_014140.4(SMARCAL1):c.724G>A (p.Val242Ile)
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NM_014140.4(SMARCAL1):c.726A>T (p.Val242=)
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rs146658939 |
NM_014140.4(SMARCAL1):c.748G>C (p.Val250Leu)
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NM_014140.4(SMARCAL1):c.767C>T (p.Ala256Val)
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NM_014140.4(SMARCAL1):c.786dup (p.Lys263Ter)
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NM_014140.4(SMARCAL1):c.863-4G>T
|
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NM_014140.4(SMARCAL1):c.866A>C (p.Lys289Thr)
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NM_014140.4(SMARCAL1):c.888G>A (p.Thr296=)
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NM_014140.4(SMARCAL1):c.961G>A (p.Gly321Ser)
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SMARCAL1, 4-BP DEL, 1146AAGT
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