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NC_000005.9:g.(?_110077728)_(110083984_?)dup
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NC_000007.13:g.(?_75933099)_(75933510_?)del
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NC_000007.13:g.(?_75933119)_(75933490_?)del
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NC_000011.9:g.(?_9801955)_(10064538_?)del
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NM_000263.4(NAGLU):c.1900G>A (p.Glu634Lys)
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rs147036053 |
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NM_000263.4(NAGLU):c.1946G>A (p.Trp649Ter)
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NM_001005360.2(DNM2):c.1463C>G (p.Thr488Arg)
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NM_001005360.2(DNM2):c.1609G>A (p.Gly537Ser)
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rs121909093 |
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NM_001005360.2(DNM2):c.1853C>A (p.Ala618Asp)
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rs1555715869 |
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NM_001136473.1(LITAF):c.331G>A (p.Ala111Thr)
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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.752G>A (p.Arg251His)
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rs794727634 |
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NM_001540.5(HSPB1):c.407G>T (p.Arg136Leu)
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rs863225022 |
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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.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_005340.7(HINT1):c.2T>C (p.Met1Thr)
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NM_006096.3(NDRG1):c.326+1G>A
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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_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.1019dup (p.Arg341fs)
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rs756461496 |
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NM_018972.4(GDAP1):c.311-1790_408del
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NM_018972.4(GDAP1):c.399G>A (p.Met133Ile)
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rs139808557 |
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NM_018972.4(GDAP1):c.458C>T (p.Pro153Leu)
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rs538412810 |
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NM_020631.5(PLEKHG5):c.440-2A>G
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rs144750655 |
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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_022489.4(INF2):c.314T>A (p.Val105Glu)
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rs1555373363 |
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NM_024577.3(SH3TC2):c.1972C>T (p.Arg658Cys)
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rs80338926 |
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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
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rs1561770798 |
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NM_024577.3(SH3TC2):c.3054-2A>C
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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.385+2T>C
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rs773554464 |
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NM_024577.3(SH3TC2):c.529+1G>A
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NM_024577.3(SH3TC2):c.806-1G>A
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rs1554122560 |
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NM_030962.3(SBF2):c.1297-2A>G
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NM_030962.3(SBF2):c.1929+15398_2137del
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NM_030962.3(SBF2):c.5037+1G>A
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rs1060499999 |
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NM_138361.5(LRSAM1):c.1043+2T>G
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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.2080T>C (p.Cys694Arg)
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rs759312530 |
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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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