NM_006343.3(MERTK):c.2164C>T (p.Arg722Ter)
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rs541717028
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0.00004
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NM_006343.3(MERTK):c.2189+1G>T
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rs371956016
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0.00004
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NM_006343.3(MERTK):c.1605-2A>G
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rs730880273
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0.00002
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NM_006343.3(MERTK):c.345C>G (p.Cys115Trp)
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rs772421550
|
0.00002
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NM_006343.3(MERTK):c.1450G>A (p.Gly484Ser)
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rs527236084
|
0.00001
|
NM_006343.3(MERTK):c.154del (p.Ser52fs)
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rs1371550108
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0.00001
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NM_006343.3(MERTK):c.1672C>T (p.Arg558Ter)
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rs774755041
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0.00001
|
NM_006343.3(MERTK):c.1783dup (p.Glu595fs)
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rs1337364058
|
0.00001
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NM_006343.3(MERTK):c.1787-2A>T
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rs978833430
|
0.00001
|
NM_006343.3(MERTK):c.1951C>T (p.Arg651Ter)
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rs119489105
|
0.00001
|
NM_006343.3(MERTK):c.225del (p.Gly76fs)
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rs527236083
|
0.00001
|
GRCh37/hg19 2q13(chr2:112690808-112809020)x1
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|
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NC_000002.11:g.(?_112656313)_(112705164_?)del
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|
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NC_000002.11:g.(?_112656313)_(112733049_?)del
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|
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NC_000002.11:g.(?_112656313)_(112786441_?)del
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|
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NC_000002.11:g.(?_112702517)_(112786441_?)del
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|
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NC_000002.11:g.(?_112722748)_(112740590_?)del
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|
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NC_000002.11:g.(?_112740399)_(112740590_?)del
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|
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NC_000002.11:g.(?_112751808)_(112752001_?)del
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|
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NC_000002.11:g.(?_112751828)_(112753086_?)del
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|
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NC_000002.11:g.(?_112761461)_(112767663_?)dup
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|
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NC_000002.11:g.(?_112778979)_(112779178_?)del
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|
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NC_000002.11:g.(?_112779835)_(112780119_?)del
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|
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NC_000002.12:g.(?_111944960)_(112022542_?)del
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|
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NC_000002.12:g.(?_111944960)_(112028864_?)del
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NC_000002.12:g.(?_112021422)_(112021581_?)del
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|
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NM_006343.3(MERTK):c.1186G>T (p.Glu396Ter)
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|
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NM_006343.3(MERTK):c.1192dup (p.Ser398fs)
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rs2104741154
|
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NM_006343.3(MERTK):c.1301_1302del (p.Glu434fs)
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rs776644374
|
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NM_006343.3(MERTK):c.14del (p.Pro5fs)
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|
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NM_006343.3(MERTK):c.1724del (p.Asn575fs)
|
rs1187387547
|
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NM_006343.3(MERTK):c.1802_1808del (p.Val601fs)
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|
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NM_006343.3(MERTK):c.1867+2_1867+3del
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rs2104407571
|
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NM_006343.3(MERTK):c.1868-1G>A
|
rs2104411620
|
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NM_006343.3(MERTK):c.1868T>A (p.Leu623Ter)
|
rs780007963
|
|
NM_006343.3(MERTK):c.1935_1960+9del
|
|
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NM_006343.3(MERTK):c.2070_2074del (p.Gly691fs)
|
rs1573638426
|
|
NM_006343.3(MERTK):c.2079+2T>G
|
rs1677065097
|
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NM_006343.3(MERTK):c.2179C>T (p.Arg727Ter)
|
rs746238212
|
|
NM_006343.3(MERTK):c.2180G>A (p.Arg727Gln)
|
rs878853354
|
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NM_006343.3(MERTK):c.2187C>A (p.Cys729Ter)
|
rs2104421764
|
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NM_006343.3(MERTK):c.2211_2214del (p.Cys738fs)
|
rs1487540503
|
|
NM_006343.3(MERTK):c.2214del (p.Cys738fs)
|
rs886039422
|
|
NM_006343.3(MERTK):c.2228del (p.Gly743fs)
|
rs1677347565
|
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NM_006343.3(MERTK):c.2323C>T (p.Arg775Ter)
|
rs387907314
|
|
NM_006343.3(MERTK):c.2352G>A (p.Trp784Ter)
|
rs2104424446
|
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NM_006343.3(MERTK):c.2377del (p.Glu792_Ile793insTer)
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|
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NM_006343.3(MERTK):c.2389G>T (p.Gly797Ter)
|
|
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NM_006343.3(MERTK):c.2390del (p.Gly797fs)
|
rs1677368092
|
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NM_006343.3(MERTK):c.2530C>T (p.Arg844Cys)
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rs746291728
|
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NM_006343.3(MERTK):c.2567_2568del (p.Lys856fs)
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rs1677514061
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NM_006343.3(MERTK):c.2576_2579del (p.Glu859fs)
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|
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NM_006343.3(MERTK):c.263C>G (p.Ser88Ter)
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|
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NM_006343.3(MERTK):c.267del (p.Lys89fs)
|
rs2104686582
|
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NM_006343.3(MERTK):c.280_281del (p.Leu94fs)
|
|
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NM_006343.3(MERTK):c.296_297del (p.Thr99fs)
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|
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NM_006343.3(MERTK):c.349_352del (p.Ile117fs)
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|
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NM_006343.3(MERTK):c.436_437del (p.Gln146fs)
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|
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NM_006343.3(MERTK):c.505_508del (p.Asp169fs)
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NM_006343.3(MERTK):c.584-1_584dup
|
|
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NM_006343.3(MERTK):c.721C>T (p.Gln241Ter)
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|
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NM_006343.3(MERTK):c.912G>A (p.Trp304Ter)
|
|
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NM_006343.3(MERTK):c.938del (p.Pro313fs)
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|
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Single allele
|
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