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ELN, 1-BP DEL, 1821C
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ELN, 1-BP DEL, 2012G
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ELN, 1-BP DEL, 2039C
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ELN, 1-BP DEL, 2159C
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ELN, 1-BP DEL, 748A
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ELN, 1-BP INS, FS615TER
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ELN, 100-KB DEL
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ELN, 1621C-T
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ELN, 25-BP DEL, NT2114
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ELN, 30-KB DEL
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ELN, ARG610GLN AND 24-BP DUP, NT1034
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ELN, EX9-33DUP
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ELN, IVS15AS, A-G, -2
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NC_000007.13:g.(?_73442119)_(73484237_?)del
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NC_000007.13:g.(?_73442498)_(73483050_?)del
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NC_000007.13:g.(?_73482987)_(73484237_?)del
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NC_000007.14:g.(?_74028168)_(74028289_?)del
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NC_000007.14:g.(?_74028178)_(74068710_?)del
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NC_000007.14:g.(?_74068637)_(74068720_?)del
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NM_000501.2(ELN):c.(?_-60)_(*57_?)del
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NM_000501.4(ELN):c.1040del (p.Pro347fs)
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rs1563826213 |
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NM_000501.4(ELN):c.1097-1G>A
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rs727503029 |
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NM_000501.4(ELN):c.1101del (p.Val368fs)
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rs863223520 |
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NM_000501.4(ELN):c.1104_1105del (p.Ser369fs)
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NM_000501.4(ELN):c.1113dup (p.Ala372fs)
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rs730880355 |
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NM_000501.4(ELN):c.1149C>A (p.Tyr383Ter)
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NM_000501.4(ELN):c.1150+1G>A
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rs727503030 |
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NM_000501.4(ELN):c.1161del (p.Gly388fs)
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rs863223521 |
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NM_000501.4(ELN):c.1190dup (p.Tyr397Ter)
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NM_000501.4(ELN):c.1195del (p.Val399fs)
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rs863223522 |
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NM_000501.4(ELN):c.1208del (p.Gly403fs)
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rs727504433 |
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NM_000501.4(ELN):c.1227del (p.Gly410fs)
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rs1563836689 |
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NM_000501.4(ELN):c.1282G>T (p.Gly428Ter)
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NM_000501.4(ELN):c.131del (p.Pro44fs)
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rs727503023 |
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NM_000501.4(ELN):c.1324C>T (p.Gln442Ter)
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rs137854452 |
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NM_000501.4(ELN):c.1482del (p.Val495fs)
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rs1583959262 |
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NM_000501.4(ELN):c.1621C>T (p.Arg541Ter)
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rs137854453 |
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NM_000501.4(ELN):c.163+2T>C
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rs1584494326 |
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NM_000501.4(ELN):c.1716dup (p.Val573fs)
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rs1554683650 |
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NM_000501.4(ELN):c.171del (p.Pro58fs)
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rs1554666513 |
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NM_000501.4(ELN):c.1744del (p.Ala582fs)
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rs727503783 |
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NM_000501.4(ELN):c.1785T>A (p.Tyr595Ter)
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rs727503033 |
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NM_000501.4(ELN):c.1817del (p.Leu606fs)
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NM_000501.4(ELN):c.1858+5G>C
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rs1554686162 |
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NM_000501.4(ELN):c.1858G>T (p.Gly620Ter)
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rs727503034 |
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NM_000501.4(ELN):c.1918+1G>A
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rs727503035 |
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NM_000501.4(ELN):c.1928_1952del (p.Gly643fs)
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rs863223524 |
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NM_000501.4(ELN):c.2058del (p.Gly688fs)
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rs886039351 |
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NM_000501.4(ELN):c.278del (p.Pro93fs)
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NM_000501.4(ELN):c.295_296del (p.Ala99fs)
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rs1554669297 |
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NM_000501.4(ELN):c.2T>C (p.Met1Thr)
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rs863223518 |
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NM_000501.4(ELN):c.383del (p.Val128fs)
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rs1554669800 |
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NM_000501.4(ELN):c.391C>T (p.Gln131Ter)
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NM_000501.4(ELN):c.414dup (p.Gly139fs)
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NM_000501.4(ELN):c.417del (p.Val141fs)
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rs878854452 |
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NM_000501.4(ELN):c.435del (p.Leu146fs)
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rs727503024 |
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NM_000501.4(ELN):c.43dup (p.Leu15fs)
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rs727503022 |
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NM_000501.4(ELN):c.450C>A (p.Tyr150Ter)
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rs137854454 |
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NM_000501.4(ELN):c.450C>G (p.Tyr150Ter)
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rs137854454 |
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NM_000501.4(ELN):c.477del (p.Phe160fs)
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rs863223519 |
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NM_000501.4(ELN):c.526A>T (p.Lys176Ter)
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rs137854455 |
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NM_000501.4(ELN):c.590del (p.Gly197fs)
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rs863223526 |
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NM_000501.4(ELN):c.608del (p.Pro203fs)
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rs727504581 |
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NM_000501.4(ELN):c.631C>T (p.Pro211Ser)
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rs1064793880 |
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NM_000501.4(ELN):c.634A>T (p.Lys212Ter)
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rs1554672587 |
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NM_000501.4(ELN):c.643+1_643+2delinsAG
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rs1554672602 |
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NM_000501.4(ELN):c.65_69dup (p.Ser24fs)
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NM_000501.4(ELN):c.690T>A (p.Tyr230Ter)
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rs1400530335 |
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NM_000501.4(ELN):c.800-2A>G
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rs727503027 |
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NM_000501.4(ELN):c.800-3C>G
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rs397516433 |
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NM_000501.4(ELN):c.840_843dup (p.Val282fs)
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NM_000501.4(ELN):c.848dup (p.Gly284fs)
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rs863223528 |
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NM_000501.4(ELN):c.862dup (p.Ala288fs)
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rs727503028 |
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NM_000501.4(ELN):c.869del (p.Pro290fs)
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NM_000501.4(ELN):c.885del (p.Ile295fs)
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NM_000501.4(ELN):c.889+2T>C
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rs727504419 |
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NM_000501.4(ELN):c.890-2A>G
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rs727504434 |
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NM_000501.4(ELN):c.914_930delinsGCT (p.Ala305fs)
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rs886044834 |
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NM_000501.4(ELN):c.944A>G (p.Lys315Arg)
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rs1554676454 |
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NM_001278939.1:c.748del
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