NM_000044.6(AR):c.1424C>T (p.Ala475Val)
|
rs200390780
|
0.00110
|
NM_000044.6(AR):c.188A>T (p.Gln63Leu)
|
rs62636527
|
0.00006
|
NM_000044.6(AR):c.7G>A (p.Val3Met)
|
rs778912582
|
0.00002
|
NM_000044.6(AR):c.1889G>A (p.Arg630Gln)
|
rs868669253
|
0.00001
|
NM_000044.6(AR):c.1040T>G (p.Leu347Arg)
|
|
|
NM_000044.6(AR):c.1076A>T (p.Tyr359Phe)
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|
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NM_000044.6(AR):c.1106T>C (p.Leu369Pro)
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NM_000044.6(AR):c.1123C>T (p.Pro375Ser)
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NM_000044.6(AR):c.1325A>T (p.Glu442Val)
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|
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NM_000044.6(AR):c.1370GCG[6] (p.Gly463_Gly473del)
|
rs746853821
|
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NM_000044.6(AR):c.1419_1421del (p.Glu474del)
|
rs1929768492
|
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NM_000044.6(AR):c.1442A>G (p.Tyr481Cys)
|
rs1555970006
|
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NM_000044.6(AR):c.1687T>C (p.Cys563Arg)
|
|
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NM_000044.6(AR):c.170AGC[8] (p.Leu56_Leu57insGlnGlnGlnGlnGlnGlnGlnGln)
|
rs755686403
|
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NM_000044.6(AR):c.1714T>G (p.Tyr572Asp)
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|
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NM_000044.6(AR):c.1715A>T (p.Tyr572Phe)
|
rs1925886715
|
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NM_000044.6(AR):c.172_173insTGCAGCAGCAGCAGC (p.Leu57_Gln58insLeuGlnGlnGlnGln)
|
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NM_000044.6(AR):c.172_173insTGCAGCAGCAGCAGCAGCAGC (p.Leu57_Gln58insLeuGlnGlnGlnGlnGlnGln)
|
rs1206863775
|
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NM_000044.6(AR):c.1738T>A (p.Cys580Ser)
|
rs2147436595
|
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NM_000044.6(AR):c.1745T>A (p.Val582Asp)
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|
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NM_000044.6(AR):c.1768+3A>G
|
rs2147436767
|
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NM_000044.6(AR):c.1769-13T>G
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|
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NM_000044.6(AR):c.1769-3C>A
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NM_000044.6(AR):c.1793G>C (p.Ser598Thr)
|
rs2075964628
|
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NM_000044.6(AR):c.1814A>G (p.Asp605Gly)
|
rs1555990478
|
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NM_000044.6(AR):c.1844G>C (p.Cys615Ser)
|
rs1602255415
|
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NM_000044.6(AR):c.1859G>A (p.Cys620Tyr)
|
rs1312745277
|
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NM_000044.6(AR):c.1994T>C (p.Ile665Thr)
|
rs9332968
|
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NM_000044.6(AR):c.2021T>C (p.Phe674Ser)
|
rs1602272541
|
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NM_000044.6(AR):c.2037A>C (p.Glu679Asp)
|
rs2076093959
|
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NM_000044.6(AR):c.2039C>G (p.Ala680Gly)
|
|
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NM_000044.6(AR):c.2042T>C (p.Ile681Thr)
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|
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NM_000044.6(AR):c.2047C>T (p.Pro683Ser)
|
rs2076094025
|
|
NM_000044.6(AR):c.2068C>A (p.His690Asn)
|
rs1602272594
|
|
NM_000044.6(AR):c.2070C>G (p.His690Gln)
|
rs754583155
|
|
NM_000044.6(AR):c.2121A>C (p.Glu707Asp)
|
rs1555995856
|
|
NM_000044.6(AR):c.2125G>A (p.Gly709Arg)
|
rs2076094418
|
|
NM_000044.6(AR):c.2148_2150del (p.Val717del)
|
|
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NM_000044.6(AR):c.2159C>T (p.Ala720Val)
|
rs2076094679
|
|
NM_000044.6(AR):c.2164G>A (p.Ala722Thr)
|
rs137852583
|
|
NM_000044.6(AR):c.2180G>A (p.Arg727His)
|
|
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NM_000044.6(AR):c.2186T>C (p.Leu729Ser)
|
|
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NM_000044.6(AR):c.2209G>T (p.Val737Phe)
|
|
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NM_000044.6(AR):c.2236A>T (p.Met746Leu)
|
rs2076118643
|
|
NM_000044.6(AR):c.2279C>A (p.Ser760Tyr)
|
rs2147531034
|
|
NM_000044.6(AR):c.2283G>T (p.Arg761Ser)
|
rs2076118894
|
|
NM_000044.6(AR):c.2297C>T (p.Ala766Val)
|
|
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NM_000044.6(AR):c.2311T>C (p.Phe771Leu)
|
|
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NM_000044.6(AR):c.2318A>T (p.Glu773Val)
|
rs2076119092
|
|
NM_000044.6(AR):c.2323C>G (p.Arg775Gly)
|
|
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NM_000044.6(AR):c.2327T>C (p.Met776Thr)
|
|
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NM_000044.6(AR):c.2334G>T (p.Lys778Asn)
|
rs2076137260
|
|
NM_000044.6(AR):c.2345A>G (p.Tyr782Cys)
|
|
|
NM_000044.6(AR):c.2347A>G (p.Ser783Gly)
|
|
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NM_000044.6(AR):c.2360G>C (p.Arg787Pro)
|
rs764684648
|
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NM_000044.6(AR):c.2363T>G (p.Met788Arg)
|
|
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NM_000044.6(AR):c.2383T>G (p.Phe795Val)
|
rs1162418613
|
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NM_000044.6(AR):c.2392C>A (p.Leu798Ile)
|
|
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NM_000044.6(AR):c.2408A>T (p.Gln803Leu)
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|
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NM_000044.6(AR):c.2420G>A (p.Cys807Tyr)
|
rs1064793480
|
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NM_000044.6(AR):c.2437C>T (p.Leu813Phe)
|
rs1555997625
|
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NM_000044.6(AR):c.2449+3A>G
|
|
|
NM_000044.6(AR):c.2449+5G>A
|
|
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NM_000044.6(AR):c.2464C>G (p.Leu822Val)
|
|
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NM_000044.6(AR):c.2465T>A (p.Leu822Gln)
|
|
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NM_000044.6(AR):c.2504A>G (p.Tyr835Cys)
|
rs1057521122
|
|
NM_000044.6(AR):c.2507T>G (p.Ile836Ser)
|
rs2076141961
|
|
NM_000044.6(AR):c.2591T>C (p.Leu864Pro)
|
rs2076142560
|
|
NM_000044.6(AR):c.2629T>C (p.Phe877Leu)
|
rs1057519864
|
|
NM_000044.6(AR):c.2641C>G (p.Leu881Val)
|
rs755974042
|
|
NM_000044.6(AR):c.2653T>C (p.Ser885Pro)
|
rs2147540359
|
|
NM_000044.6(AR):c.2656C>T (p.His886Tyr)
|
|
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NM_000044.6(AR):c.2666G>T (p.Ser889Ile)
|
|
|
NM_000044.6(AR):c.2669T>C (p.Val890Ala)
|
|
|
NM_000044.6(AR):c.2678C>A (p.Pro893Gln)
|
rs1602280356
|
|
NM_000044.6(AR):c.2696T>A (p.Ile899Asn)
|
|
|
NM_000044.6(AR):c.2702C>T (p.Ser901Phe)
|
|
|
NM_000044.6(AR):c.2716A>G (p.Lys906Glu)
|
|
|
NM_000044.6(AR):c.2741C>A (p.Pro914His)
|
rs2147540801
|
|
NM_000044.6(AR):c.2741C>G (p.Pro914Arg)
|
|
|
NM_000044.6(AR):c.2744T>A (p.Ile915Asn)
|
rs2147540812
|
|
NM_000044.6(AR):c.2752del (p.His918fs)
|
rs1602280414
|
|
NM_000044.6(AR):c.5A>G (p.Glu2Gly)
|
rs1929637005
|
|
NM_000044.6(AR):c.725C>T (p.Ala242Val)
|
rs1929701757
|
|
NM_000044.6(AR):c.809C>A (p.Ala270Asp)
|
|
|
NM_000044.6(AR):c.865G>A (p.Glu289Lys)
|
|
|
NM_000044.6(AR):c.949A>G (p.Thr317Ala)
|
rs1555969722
|
|
NM_000044.6(AR):c.980G>A (p.Cys327Tyr)
|
|
|
NM_000044.6(AR):c.983C>G (p.Ser328Cys)
|
rs1929717720
|
|