NM_000044.6(AR):c.1181_1200dup (p.Ala401fs)
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NM_000044.6(AR):c.1341T>A (p.Tyr447Ter)
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NM_000044.6(AR):c.1396_1397insAG (p.Gly466fs)
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NM_000044.6(AR):c.1605del (p.Pro534_Tyr535insTer)
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NM_000044.6(AR):c.1616+1_1616+3delinsT
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NM_000044.6(AR):c.1685T>C (p.Ile562Thr)
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rs886041050
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NM_000044.6(AR):c.1704_1705delinsCT (p.Gly569Trp)
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rs1925886368
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NM_000044.6(AR):c.1705G>T (p.Gly569Trp)
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rs1555982864
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NM_000044.6(AR):c.1715A>G (p.Tyr572Cys)
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rs1925886715
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NM_000044.6(AR):c.1737C>A (p.Ser579Arg)
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NM_000044.6(AR):c.1742A>C (p.Lys581Thr)
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rs2147436623
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NM_000044.6(AR):c.1743G>C (p.Lys581Asn)
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NM_000044.6(AR):c.1749C>G (p.Phe583Leu)
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NM_000044.6(AR):c.1762G>C (p.Ala588Pro)
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rs1034866440
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NM_000044.6(AR):c.1768+1G>A
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rs2147436755
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NM_000044.6(AR):c.1768+2T>C
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rs1555982894
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NM_000044.6(AR):c.1805G>A (p.Cys602Tyr)
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rs1555990470
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NM_000044.6(AR):c.1846C>T (p.Arg616Cys)
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rs1555990485
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NM_000044.6(AR):c.1850T>C (p.Leu617Pro)
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rs1555990488
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NM_000044.6(AR):c.1873A>G (p.Met625Val)
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NM_000044.6(AR):c.1933G>T (p.Glu645Ter)
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NM_000044.6(AR):c.2047C>T (p.Pro683Ser)
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rs2076094025
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NM_000044.6(AR):c.2053G>A (p.Val685Ile)
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rs1555995822
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NM_000044.6(AR):c.2056G>C (p.Val686Leu)
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rs2147524833
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NM_000044.6(AR):c.2072A>G (p.Asp691Gly)
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NM_000044.6(AR):c.2076C>A (p.Asn692Lys)
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rs2147524930
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NM_000044.6(AR):c.2079C>G (p.Asn693Lys)
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NM_000044.6(AR):c.2086G>A (p.Asp696Asn)
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rs1555995840
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NM_000044.6(AR):c.2087A>T (p.Asp696Val)
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NM_000044.6(AR):c.2090C>A (p.Ser697Tyr)
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rs1555995842
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NM_000044.6(AR):c.2103G>T (p.Leu701Phe)
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rs1555995848
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NM_000044.6(AR):c.2126G>T (p.Gly709Val)
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rs2147525149
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NM_000044.6(AR):c.2159C>T (p.Ala720Val)
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rs2076094679
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NM_000044.6(AR):c.2169G>T (p.Leu723Phe)
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NM_000044.6(AR):c.2170C>T (p.Pro724Ser)
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rs2147525357
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NM_000044.6(AR):c.2174-2A>G
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NM_000044.6(AR):c.2221T>C (p.Ser741Pro)
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NM_000044.6(AR):c.2233C>T (p.Leu745Phe)
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NM_000044.6(AR):c.2237T>C (p.Met746Thr)
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rs2147530857
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NM_000044.6(AR):c.2239G>A (p.Val747Met)
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rs1602276233
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NM_000044.6(AR):c.2255G>C (p.Trp752Ser)
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rs2147530924
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NM_000044.6(AR):c.2317G>A (p.Glu773Lys)
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NM_000044.6(AR):c.2318A>G (p.Glu773Gly)
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rs2076119092
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NM_000044.6(AR):c.2339G>C (p.Arg780Pro)
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NM_000044.6(AR):c.2342T>A (p.Met781Lys)
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rs2076137339
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NM_000044.6(AR):c.2449+1G>A
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NM_000044.6(AR):c.2449+1_2449+3dup
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NM_000044.6(AR):c.2473C>A (p.Gln825Lys)
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NM_000044.6(AR):c.2566C>A (p.Arg856Ser)
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rs886041132
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NM_000044.6(AR):c.2567G>A (p.Arg856His)
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rs9332971
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NM_000044.6(AR):c.2570_2572del (p.Phe857del)
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rs2076142436
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NM_000044.6(AR):c.2636T>C (p.Phe879Ser)
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NM_000044.6(AR):c.2698A>T (p.Ile900Phe)
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rs1555998108
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NM_000044.6(AR):c.2710G>A (p.Val904Met)
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NM_000044.6(AR):c.2710G>T (p.Val904Leu)
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rs2147540656
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NM_000044.6(AR):c.2747A>C (p.Tyr916Ser)
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rs2076147482
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NM_000044.6(AR):c.2761T>C (p.Ter921Arg)
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NM_000044.6(AR):c.35del (p.Pro12fs)
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