NC_000015.10:g.(?_40412971)_(40418283_?)del
|
|
NC_000015.10:g.(?_40413063)_(40414126_?)del
|
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NC_000015.10:g.(?_40416058)_(40418283_?)del
|
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NC_000015.10:g.(?_40416068)_(40418273_?)del
|
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NC_000015.10:g.(?_40418110)_(40418283_?)del
|
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NC_000015.9:g.(?_40698000)_(40700209_?)del
|
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NM_002225.3(IVD):c.-237G>C
|
rs749128466 |
NM_002225.3(IVD):c.-315C>G
|
rs886051126 |
NM_002225.3(IVD):c.-39G>A
|
rs114259808 |
NM_002225.3(IVD):c.-79C>G
|
rs574064968 |
NM_002225.5(IVD):c.*1005T>C
|
rs560096869 |
NM_002225.5(IVD):c.*1090A>G
|
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NM_002225.5(IVD):c.*1117G>A
|
rs886051132 |
NM_002225.5(IVD):c.*112G>T
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NM_002225.5(IVD):c.*1172C>T
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NM_002225.5(IVD):c.*1208G>A
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NM_002225.5(IVD):c.*1213A>T
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rs886051133 |
NM_002225.5(IVD):c.*123G>A
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rs536728525 |
NM_002225.5(IVD):c.*1240T>A
|
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NM_002225.5(IVD):c.*1245C>T
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NM_002225.5(IVD):c.*1313C>G
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NM_002225.5(IVD):c.*131G>A
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NM_002225.5(IVD):c.*1376G>A
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NM_002225.5(IVD):c.*1471G>A
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rs4923865 |
NM_002225.5(IVD):c.*14C>T
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rs8040294 |
NM_002225.5(IVD):c.*1577C>G
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rs11630850 |
NM_002225.5(IVD):c.*1610C>T
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rs11630878 |
NM_002225.5(IVD):c.*1636G>A
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NM_002225.5(IVD):c.*1839C>G
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NM_002225.5(IVD):c.*1884G>A
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NM_002225.5(IVD):c.*1890G>C
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rs12185076 |
NM_002225.5(IVD):c.*1893del
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rs398026948 |
NM_002225.5(IVD):c.*1898G>A
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rs886051134 |
NM_002225.5(IVD):c.*1944C>T
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NM_002225.5(IVD):c.*195C>T
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rs77680513 |
NM_002225.5(IVD):c.*196G>A
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NM_002225.5(IVD):c.*1984G>C
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NM_002225.5(IVD):c.*2001G>A
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NM_002225.5(IVD):c.*2005G>A
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rs886051135 |
NM_002225.5(IVD):c.*204T>G
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rs886051127 |
NM_002225.5(IVD):c.*2070C>T
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rs187887699 |
NM_002225.5(IVD):c.*2125A>C
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NM_002225.5(IVD):c.*2205C>T
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NM_002225.5(IVD):c.*2235G>A
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NM_002225.5(IVD):c.*2275T>C
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rs11790 |
NM_002225.5(IVD):c.*2285C>G
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rs114657778 |
NM_002225.5(IVD):c.*2302G>A
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rs886051136 |
NM_002225.5(IVD):c.*2389C>T
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NM_002225.5(IVD):c.*2494C>G
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rs781683880 |
NM_002225.5(IVD):c.*2494C>T
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NM_002225.5(IVD):c.*2559G>A
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rs532233403 |
NM_002225.5(IVD):c.*261G>A
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rs2075624 |
NM_002225.5(IVD):c.*2630G>A
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rs28654574 |
NM_002225.5(IVD):c.*2844T>C
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rs7207 |
NM_002225.5(IVD):c.*2850A>G
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rs147367220 |
NM_002225.5(IVD):c.*287C>T
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NM_002225.5(IVD):c.*2883T>A
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NM_002225.5(IVD):c.*290dup
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rs529793013 |
NM_002225.5(IVD):c.*2912G>A
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rs11557072 |
NM_002225.5(IVD):c.*2960C>T
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NM_002225.5(IVD):c.*3036A>C
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NM_002225.5(IVD):c.*3036del
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rs5812161 |
NM_002225.5(IVD):c.*338G>A
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rs879231133 |
NM_002225.5(IVD):c.*387del
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rs145781896 |
NM_002225.5(IVD):c.*447C>G
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rs79191320 |
NM_002225.5(IVD):c.*566A>G
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rs549510775 |
NM_002225.5(IVD):c.*566A>T
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NM_002225.5(IVD):c.*568A>T
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NM_002225.5(IVD):c.*596G>A
|
rs115034694 |
NM_002225.5(IVD):c.*611T>G
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rs886051130 |
NM_002225.5(IVD):c.*652C>T
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NM_002225.5(IVD):c.*699G>A
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NM_002225.5(IVD):c.*787T>C
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NM_002225.5(IVD):c.*798A>G
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NM_002225.5(IVD):c.*805G>A
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NM_002225.5(IVD):c.*808C>G
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rs2075625 |
NM_002225.5(IVD):c.*809G>A
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rs886051131 |
NM_002225.5(IVD):c.*822G>T
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NM_002225.5(IVD):c.*825C>A
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NM_002225.5(IVD):c.-8T>C
|
rs566691073 |
NM_002225.5(IVD):c.-8T>G
|
rs566691073 |
NM_002225.5(IVD):c.-9A>T
|
rs373594717 |
NM_002225.5(IVD):c.1001T>C (p.Met334Thr)
|
rs368041528 |
NM_002225.5(IVD):c.1005G>A (p.Ala335=)
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rs570369496 |
NM_002225.5(IVD):c.1009C>G (p.Arg337Gly)
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rs776608445 |
NM_002225.5(IVD):c.1009C>T (p.Arg337Trp)
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rs776608445 |
NM_002225.5(IVD):c.1010G>A (p.Arg337Gln)
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rs139908696 |
NM_002225.5(IVD):c.102_103del (p.Val35fs)
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rs1057517379 |
NM_002225.5(IVD):c.1066-5C>T
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rs115077254 |
NM_002225.5(IVD):c.1066G>A (p.Asp356Asn)
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rs398123679 |
NM_002225.5(IVD):c.1069_1070TG[1] (p.Ala358fs)
|
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NM_002225.5(IVD):c.1112T>C (p.Val371Ala)
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rs754600862 |
NM_002225.5(IVD):c.1120G>A (p.Asp374Asn)
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rs1566941619 |
NM_002225.5(IVD):c.1122C>T (p.Asp374=)
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rs372504234 |
NM_002225.5(IVD):c.1138+13C>T
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NM_002225.5(IVD):c.1138G>C (p.Gly380Arg)
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NM_002225.5(IVD):c.1139-3C>G
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rs367891946 |
NM_002225.5(IVD):c.1139-8G>C
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rs755640305 |
NM_002225.5(IVD):c.1160A>G (p.Asp387Gly)
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rs1163816425 |
NM_002225.5(IVD):c.1174C>T (p.Arg392Cys)
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rs371427844 |
NM_002225.5(IVD):c.1175G>A (p.Arg392His)
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rs982218848 |
NM_002225.5(IVD):c.1179del (p.Leu394fs)
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rs786204613 |
NM_002225.5(IVD):c.1183C>T (p.Arg395Ter)
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rs398123681 |
NM_002225.5(IVD):c.1184G>A (p.Arg395Gln)
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rs1477527791 |
NM_002225.5(IVD):c.1199A>G (p.Tyr400Cys)
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rs773560012 |
NM_002225.5(IVD):c.11C>T (p.Ala4Val)
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rs148189323 |
NM_002225.5(IVD):c.1205T>C (p.Ile402Thr)
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rs763422682 |
NM_002225.5(IVD):c.1206del (p.Ile402fs)
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rs1595797766 |
NM_002225.5(IVD):c.1229_1256del (p.Arg410fs)
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rs1555405428 |
NM_002225.5(IVD):c.1231C>T (p.Arg411Trp)
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rs1237032588 |
NM_002225.5(IVD):c.1232G>A (p.Arg411Gln)
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rs143348838 |
NM_002225.5(IVD):c.1243G>A (p.Gly415Ser)
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rs150855952 |
NM_002225.5(IVD):c.144+1G>A
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rs928991928 |
NM_002225.5(IVD):c.148C>G (p.Arg50Gly)
|
rs34695403 |
NM_002225.5(IVD):c.148C>T (p.Arg50Cys)
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rs34695403 |
NM_002225.5(IVD):c.149G>A (p.Arg50His)
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rs2229311 |
NM_002225.5(IVD):c.149G>C (p.Arg50Pro)
|
rs2229311 |
NM_002225.5(IVD):c.150T>A (p.Arg50=)
|
rs762440985 |
NM_002225.5(IVD):c.157_160dup (p.Ala54fs)
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rs1555403211 |
NM_002225.5(IVD):c.158T>C (p.Met53Thr)
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NM_002225.5(IVD):c.164A>T (p.Lys55Met)
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rs145999491 |
NM_002225.5(IVD):c.17G>A (p.Arg6Gln)
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NM_002225.5(IVD):c.199G>T (p.Glu67Ter)
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NM_002225.5(IVD):c.228C>T (p.Asn76=)
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rs140098686 |
NM_002225.5(IVD):c.229C>T (p.Leu77=)
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rs143807229 |
NM_002225.5(IVD):c.232C>T (p.Arg78Ter)
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rs765815516 |
NM_002225.5(IVD):c.233G>C (p.Arg78Pro)
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rs771929559 |
NM_002225.5(IVD):c.234+14T>C
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rs2289331 |
NM_002225.5(IVD):c.234+17G>A
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rs568900608 |
NM_002225.5(IVD):c.234+9G>A
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rs369931477 |
NM_002225.5(IVD):c.243G>A (p.Trp81Ter)
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rs540375168 |
NM_002225.5(IVD):c.268T>A (p.Leu90Met)
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rs780854004 |
NM_002225.5(IVD):c.272G>A (p.Gly91Asp)
|
rs1555403365 |
NM_002225.5(IVD):c.286+8T>C
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rs769702849 |
NM_002225.5(IVD):c.287-1G>A
|
rs1398838997 |
NM_002225.5(IVD):c.287-2A>C
|
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NM_002225.5(IVD):c.303C>T (p.Ser101=)
|
rs749482459 |
NM_002225.5(IVD):c.349C>T (p.Arg117Ter)
|
rs776015412 |
NM_002225.5(IVD):c.350G>A (p.Arg117Gln)
|
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NM_002225.5(IVD):c.358G>A (p.Gly120Arg)
|
rs142761835 |
NM_002225.5(IVD):c.381del (p.Ala128fs)
|
rs769048174 |
NM_002225.5(IVD):c.397_398del (p.Cys133fs)
|
rs398123682 |
NM_002225.5(IVD):c.400A>G (p.Ile134Val)
|
rs151118565 |
NM_002225.5(IVD):c.408G>C (p.Gln136His)
|
rs569537063 |
NM_002225.5(IVD):c.436A>G (p.Lys146Glu)
|
rs1448656950 |
NM_002225.5(IVD):c.44G>A (p.Trp15Ter)
|
rs907414760 |
NM_002225.5(IVD):c.456+22_510delinsGTTG
|
rs1555403942 |
NM_002225.5(IVD):c.456+2T>C
|
rs398123683 |
NM_002225.5(IVD):c.456G>A (p.Lys152=)
|
rs886044117 |
NM_002225.5(IVD):c.457-2A>G
|
rs771914739 |
NM_002225.5(IVD):c.457-3_457-2delinsGG
|
rs786204427 |
NM_002225.5(IVD):c.464G>A (p.Ser155Asn)
|
rs140182461 |
NM_002225.5(IVD):c.464_466GTG[3] (p.Gly156dup)
|
rs796051982 |
NM_002225.5(IVD):c.490A>G (p.Met164Val)
|
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NM_002225.5(IVD):c.498del (p.Glu166fs)
|
rs398123684 |
NM_002225.5(IVD):c.516_518TGT[1] (p.Val174del)
|
rs1566936030 |
NM_002225.5(IVD):c.521T>G (p.Val174Gly)
|
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NM_002225.5(IVD):c.52C>T (p.Arg18Trp)
|
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NM_002225.5(IVD):c.534C>A (p.Leu178=)
|
rs775318094 |
NM_002225.5(IVD):c.540G>A (p.Ala180=)
|
rs775944806 |
NM_002225.5(IVD):c.550+1G>A
|
rs377147994 |
NM_002225.5(IVD):c.550+6G>A
|
|
NM_002225.5(IVD):c.551-1G>A
|
rs1057517043 |
NM_002225.5(IVD):c.596G>T (p.Gly199Val)
|
rs121434285 |
NM_002225.5(IVD):c.599del (p.Pro200fs)
|
rs1566936542 |
NM_002225.5(IVD):c.618del (p.Ile206fs)
|
rs781630355 |
NM_002225.5(IVD):c.61_67del (p.Leu21fs)
|
|
NM_002225.5(IVD):c.678T>G (p.Ile226Met)
|
|
NM_002225.5(IVD):c.690T>C (p.Gly230=)
|
rs1182189552 |
NM_002225.5(IVD):c.707C>T (p.Thr236Ile)
|
rs146861563 |
NM_002225.5(IVD):c.711dup (p.Lys238Ter)
|
rs1555404426 |
NM_002225.5(IVD):c.712_714AAG[1] (p.Lys239del)
|
rs1555404430 |
NM_002225.5(IVD):c.723C>T (p.Asp241=)
|
rs2229312 |
NM_002225.5(IVD):c.744dup (p.Asn249Ter)
|
rs1057516769 |
NM_002225.5(IVD):c.784+13G>A
|
rs369694967 |
NM_002225.5(IVD):c.784+1G>A
|
rs763471771 |
NM_002225.5(IVD):c.785-1G>A
|
rs1555404784 |
NM_002225.5(IVD):c.796C>G (p.Leu266Val)
|
rs766980574 |
NM_002225.5(IVD):c.822C>T (p.Tyr274=)
|
rs375580399 |
NM_002225.5(IVD):c.823G>C (p.Val275Leu)
|
|
NM_002225.5(IVD):c.832A>C (p.Ser278Arg)
|
rs552272986 |
NM_002225.5(IVD):c.833G>C (p.Ser278Thr)
|
|
NM_002225.5(IVD):c.848A>G (p.Glu283Gly)
|
rs1314850102 |
NM_002225.5(IVD):c.851G>A (p.Arg284Gln)
|
rs373534546 |
NM_002225.5(IVD):c.865G>A (p.Gly289Arg)
|
|
NM_002225.5(IVD):c.870del (p.Pro291fs)
|
|
NM_002225.5(IVD):c.870dup (p.Pro291fs)
|
rs759159766 |
NM_002225.5(IVD):c.875T>C (p.Leu292Pro)
|
rs1555404843 |
NM_002225.5(IVD):c.878+1G>A
|
rs745629936 |
NM_002225.5(IVD):c.879-5G>A
|
rs750569823 |
NM_002225.5(IVD):c.881T>C (p.Leu294Pro)
|
rs1555404933 |
NM_002225.5(IVD):c.883A>T (p.Met295Leu)
|
rs1595786853 |
NM_002225.5(IVD):c.887A>T (p.Gln296Leu)
|
rs1595786862 |
NM_002225.5(IVD):c.88C>T (p.His30Tyr)
|
rs73383128 |
NM_002225.5(IVD):c.890C>T (p.Ala297Val)
|
rs796051983 |
NM_002225.5(IVD):c.891G>A (p.Ala297=)
|
rs138427412 |
NM_002225.5(IVD):c.895C>G (p.Leu299Val)
|
|
NM_002225.5(IVD):c.916C>G (p.Leu306Val)
|
rs144418134 |
NM_002225.5(IVD):c.932C>T (p.Ala311Val)
|
rs28940889 |
NM_002225.5(IVD):c.948C>T (p.Ile316=)
|
rs754100750 |
NM_002225.5(IVD):c.960G>T (p.Gln320His)
|
rs367814475 |
NM_002225.5(IVD):c.961-1G>T
|
rs1555405067 |
NM_002225.5(IVD):c.961-2A>G
|
rs1057517056 |
NM_002225.5(IVD):c.961-6G>A
|
rs199783007 |
NM_002225.5(IVD):c.961T>C (p.Leu321=)
|
rs146011049 |
NM_002225.5(IVD):c.967C>G (p.Gln323Glu)
|
|
NM_002225.5(IVD):c.974del (p.Lys325fs)
|
rs1555405070 |
NM_002225.5(IVD):c.994del (p.Arg332fs)
|
rs1555405080 |
NM_002225.5(IVD):c.995G>T (p.Arg332Leu)
|
|