NM_144670.6(A2ML1):c.1856G>C (p.Trp619Ser)
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rs369180298
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0.00014
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NM_144670.6(A2ML1):c.2405G>A (p.Arg802His)
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rs201562272
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0.00013
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NM_144670.6(A2ML1):c.2486C>T (p.Ser829Leu)
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rs758305694
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0.00004
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NM_144670.6(A2ML1):c.1678A>G (p.Asn560Asp)
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rs764188902
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0.00003
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NM_144670.6(A2ML1):c.3685C>T (p.His1229Tyr)
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rs764222230
|
0.00002
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NM_144670.6(A2ML1):c.4000G>C (p.Gly1334Arg)
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rs1052149878
|
0.00001
|
GRCh37/hg19 9p23-22.2(chr9:13563537-18491752)x1
|
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GRCh37/hg19 9p23-22.2(chr9:13739630-18023839)x1
|
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GRCh37/hg19 9p23-22.2(chr9:14178768-16619009)x1
|
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GRCh37/hg19 9p23-22.3(chr9:13034407-14653394)x1
|
|
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GRCh37/hg19 9p23-22.3(chr9:13106806-14639971)x1
|
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GRCh38/hg38 9p23-22.3(chr9:13974416-14286260)x1
|
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GRCh38/hg38 9p23-22.3(chr9:14098660-14324148)x1
|
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GRCh38/hg38 9p23-22.3(chr9:14102176-14386039)x1
|
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NM_000166.6(GJB1):c.50C>G (p.Ser17Cys)
|
rs1555937009
|
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NM_001190737.2(NFIB):c.1063_1076del (p.Ile355fs)
|
rs1554639173
|
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NM_001190737.2(NFIB):c.1067C>T (p.Ser356Leu)
|
rs1554639196
|
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NM_001190737.2(NFIB):c.109C>T (p.Arg37Ter)
|
rs1554709792
|
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NM_001190737.2(NFIB):c.265C>T (p.Arg89Ter)
|
rs764333096
|
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NM_001190737.2(NFIB):c.341A>C (p.Lys114Thr)
|
rs1554709683
|
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NM_001190737.2(NFIB):c.376A>G (p.Lys126Glu)
|
rs1554709662
|
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NM_001190737.2(NFIB):c.395T>C (p.Leu132Pro)
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rs1554709654
|
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NM_001190737.2(NFIB):c.758_759dup (p.Asn254Ter)
|
rs1554649366
|
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NM_002834.5(PTPN11):c.762ACA[2] (p.Gln257del)
|
rs397507524
|
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NM_002834.5(PTPN11):c.762ACA[4] (p.Gln257dup)
|
rs397507524
|
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NM_006939.4(SOS2):c.1127C>G (p.Thr376Ser)
|
rs869320687
|
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NM_006939.4(SOS2):c.791C>A (p.Thr264Lys)
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NM_006939.4(SOS2):c.791C>G (p.Thr264Arg)
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NM_006939.4(SOS2):c.798_800delinsCAA (p.Glu266_Met267delinsAspLys)
|
rs1885777585
|
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NM_006939.4(SOS2):c.800T>A (p.Met267Lys)
|
rs797045167
|
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NM_006939.4(SOS2):c.800T>C (p.Met267Thr)
|
rs797045167
|
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NM_006939.4(SOS2):c.800T>G (p.Met267Arg)
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NM_144670.6(A2ML1):c.1769C>T (p.Ala590Val)
|
rs770246364
|
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NM_144670.6(A2ML1):c.1817A>G (p.Glu606Gly)
|
rs1943742434
|
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NM_144670.6(A2ML1):c.1888_1891dup (p.Asp631delinsValTer)
|
rs746882060
|
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NM_144670.6(A2ML1):c.2527T>G (p.Ser843Ala)
|
rs1943919317
|
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NM_144670.6(A2ML1):c.3124A>G (p.Thr1042Ala)
|
rs565930773
|
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NM_144670.6(A2ML1):c.3431del (p.Phe1144fs)
|
rs776004500
|
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NM_144670.6(A2ML1):c.4085C>A (p.Ser1362Tyr)
|
rs1944508896
|
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NM_144670.6(A2ML1):c.424G>A (p.Val142Ile)
|
rs1943049475
|
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