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NC_000005.9:g.(?_110077728)_(110083984_?)dup
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NC_000007.14:g.(?_76303782)_(76304193_?)del
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NC_000009.12:g.(?_127502764)_(127502909_?)del
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NC_000011.10:g.(?_9780408)_(10042991_?)del
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NM_000263.4(NAGLU):c.1946G>A (p.Trp649Ter)
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rs527236038 |
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NM_000263.4(NAGLU):c.2116C>T (p.Gln706Ter)
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rs752527478 |
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NM_000263.4(NAGLU):c.531+1G>A
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NM_001005360.2(DNM2):c.1463C>G (p.Thr488Arg)
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rs746903992 |
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NM_001136473.1(LITAF):c.344C>A (p.Thr115Asn)
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rs104894520 |
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NM_001190716.2(DNM2):c.1072G>A (p.Gly358Arg)
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rs267606772 |
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NM_001303256.3(MORC2):c.707A>G (p.Glu236Gly)
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rs886037934 |
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NM_001376.5(DYNC1H1):c.10160T>C (p.Leu3387Pro)
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rs1567019064 |
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NM_001376.5(DYNC1H1):c.1678G>A (p.Val560Met)
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NM_001540.5(HSPB1):c.165_171dup (p.Leu58fs)
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rs748762287 |
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NM_001540.5(HSPB1):c.438dup (p.Gly147fs)
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NM_001540.5(HSPB1):c.522_523delinsCT (p.Gln175Ter)
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rs1060503021 |
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NM_001540.5(HSPB1):c.532G>T (p.Glu178Ter)
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rs150110356 |
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NM_002180.2(IGHMBP2):c.1060G>A (p.Gly354Ser)
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rs886043773 |
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NM_002180.2(IGHMBP2):c.1633-2A>G
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rs1566445029 |
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NM_002180.2(IGHMBP2):c.1693G>A (p.Asp565Asn)
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rs770111639 |
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NM_002180.2(IGHMBP2):c.1738G>A (p.Val580Ile)
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rs137852667 |
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NM_002180.2(IGHMBP2):c.257-2A>G
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rs1566424655 |
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NM_002180.2(IGHMBP2):c.2T>C (p.Met1Thr)
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rs886037759 |
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NM_002180.2(IGHMBP2):c.547+1G>A
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rs1057518588 |
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NM_002180.2(IGHMBP2):c.791G>T (p.Arg264Leu)
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rs777575504 |
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NM_002180.3(IGHMBP2):c.1236-1G>T
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NM_005340.7(HINT1):c.2T>C (p.Met1Thr)
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rs1580686455 |
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NM_006096.3(NDRG1):c.326+1G>A
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rs1586446057 |
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NM_006096.4(NDRG1):c.450+2_450+3del
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NM_006096.4(NDRG1):c.595-2A>T
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NM_006096.4(NDRG1):c.891+2T>C
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NM_006158.4(NEFL):c.796G>A (p.Glu266Lys)
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rs1411999109 |
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NM_014845.5(FIG4):c.498-2A>G
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rs1554300952 |
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NM_014845.6(FIG4):c.1749_1750+7del
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NM_014845.6(FIG4):c.1890-2A>G
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NM_014845.6(FIG4):c.447-2A>C
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NM_016156.5(MTMR2):c.804+1G>C
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rs1565351898 |
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NM_016156.5(MTMR2):c.804+2T>G
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rs1555061026 |
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NM_016156.5(MTMR2):c.993+1G>A
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rs1555060614 |
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NM_018972.4(GDAP1):c.311-1790_408del
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NM_018972.4(GDAP1):c.376G>A (p.Glu126Lys)
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rs879254005 |
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NM_018972.4(GDAP1):c.458C>T (p.Pro153Leu)
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rs538412810 |
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NM_018972.4(GDAP1):c.811G>A (p.Gly271Arg)
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rs775622226 |
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NM_020631.5(PLEKHG5):c.440-2A>G
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rs144750655 |
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NM_020956.2(PRX):c.*3491_*3561del
|
rs1555800610 |
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NM_021625.4(TRPV4):c.557G>A (p.Arg186Gln)
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rs397514494 |
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NM_021625.4(TRPV4):c.710G>T (p.Arg237Leu)
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rs1289139464 |
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NM_021625.4(TRPV4):c.832G>A (p.Glu278Lys)
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rs267607148 |
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NM_021629.4(GNB4):c.158G>A (p.Gly53Asp)
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rs387907340 |
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NM_021629.4(GNB4):c.169A>G (p.Lys57Glu)
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NM_021629.4(GNB4):c.265A>G (p.Lys89Glu)
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rs387907341 |
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NM_022489.4(INF2):c.314T>A (p.Val105Glu)
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rs1555373363 |
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NM_024577.3(SH3TC2):c.1585_1587delinsTGG (p.Arg529Trp)
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rs863224781 |
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NM_024577.3(SH3TC2):c.279+1G>A
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rs1198337036 |
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NM_024577.3(SH3TC2):c.280-2A>G
|
rs1561770798 |
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NM_024577.3(SH3TC2):c.3054-2A>C
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rs1580891465 |
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NM_024577.3(SH3TC2):c.3328-1G>T
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rs1554120331 |
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NM_024577.3(SH3TC2):c.3511C>T (p.Arg1171Cys)
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rs759785462 |
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NM_024577.3(SH3TC2):c.385+2T>C
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rs773554464 |
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NM_024577.3(SH3TC2):c.529+1G>A
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rs769410348 |
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NM_024577.3(SH3TC2):c.806-1G>A
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rs1554122560 |
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NM_024577.4(SH3TC2):c.386-2A>C
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rs145670786 |
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NM_030962.3(SBF2):c.1297-2A>G
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rs752649372 |
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NM_030962.3(SBF2):c.1929+15398_2137del
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NM_030962.3(SBF2):c.3110+2_3110+4delinsGAG
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NM_030962.3(SBF2):c.3653-1G>A
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NM_030962.3(SBF2):c.5037+1G>C
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NM_138361.5(LRSAM1):c.1043+1G>A
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NM_138361.5(LRSAM1):c.1043+2T>G
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rs746455518 |
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NM_138361.5(LRSAM1):c.1348-1G>A
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rs747659617 |
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NM_138361.5(LRSAM1):c.1978_1979dup (p.Pro661fs)
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NM_138361.5(LRSAM1):c.2003_2015del (p.Leu668fs)
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rs876661208 |
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NM_138361.5(LRSAM1):c.2005G>T (p.Glu669Ter)
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rs1588143112 |
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NM_138361.5(LRSAM1):c.2102del (p.Gln701fs)
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rs1554763035 |
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NM_138361.5(LRSAM1):c.847_1088+563del
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NM_138773.4(SLC25A46):c.799_800dup (p.Thr268fs)
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NM_139241.3(FGD4):c.1833_1902+238delinsGGAGG
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NM_181882.3(PRX):c.184+2T>C
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NM_201278.3(MTMR2):c.1662_1663AG[6] (p.Ala557fs)
|
rs751292488 |