NM_000302.4(PLOD1):c.1651-2A>G
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rs565513365
|
0.00004
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NM_000302.4(PLOD1):c.2008C>T (p.Arg670Ter)
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rs121913554
|
0.00003
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NM_000302.4(PLOD1):c.2032G>A (p.Gly678Arg)
|
rs121913551
|
0.00003
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NM_000302.4(PLOD1):c.1533C>G (p.Tyr511Ter)
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rs121913552
|
0.00002
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NM_000302.4(PLOD1):c.1095C>T (p.Gly365=)
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rs1032781250
|
0.00001
|
NM_000302.4(PLOD1):c.166C>T (p.Gln56Ter)
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rs1433428588
|
0.00001
|
NM_000302.4(PLOD1):c.1906C>T (p.Gln636Ter)
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rs1439043436
|
0.00001
|
NM_000302.4(PLOD1):c.467-2del
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rs1440249864
|
0.00001
|
NM_000302.4(PLOD1):c.979C>T (p.Gln327Ter)
|
rs1224538282
|
0.00001
|
NC_000001.10:g.(?_12008013)_(12008144_?)del
|
|
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NC_000001.10:g.(?_12014867)_(12014970_?)del
|
|
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NC_000001.10:g.(?_12020683)_(12027168_?)dup
|
|
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NC_000001.10:g.(?_12020693)_(12027158_?)dup
|
|
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NC_000001.11:g.(?_11949763)_(11952745_?)del
|
|
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NC_000001.11:g.11963531GA[1]
|
|
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NM_000302.4(PLOD1):c.1015C>T (p.Gln339Ter)
|
rs1569713366
|
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NM_000302.4(PLOD1):c.1170_1192del (p.Asn391fs)
|
rs2100756997
|
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NM_000302.4(PLOD1):c.1195C>T (p.Gln399Ter)
|
|
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NM_000302.4(PLOD1):c.1256G>A (p.Trp419Ter)
|
|
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NM_000302.4(PLOD1):c.1261dup (p.Ala421fs)
|
|
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NM_000302.4(PLOD1):c.1281C>A (p.Tyr427Ter)
|
|
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NM_000302.4(PLOD1):c.1365C>G (p.Tyr455Ter)
|
|
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NM_000302.4(PLOD1):c.145C>T (p.Gln49Ter)
|
rs1189324317
|
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NM_000302.4(PLOD1):c.153dup (p.Asn52fs)
|
|
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NM_000302.4(PLOD1):c.1646del (p.Glu549fs)
|
rs2100760068
|
|
NM_000302.4(PLOD1):c.1670_1671delinsAA (p.Trp557Ter)
|
|
|
NM_000302.4(PLOD1):c.1698T>A (p.Cys566Ter)
|
|
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NM_000302.4(PLOD1):c.1711G>T (p.Glu571Ter)
|
|
|
NM_000302.4(PLOD1):c.1772del (p.Gly591fs)
|
rs1645855563
|
|
NM_000302.4(PLOD1):c.1795del (p.Ile599fs)
|
rs1557500194
|
|
NM_000302.4(PLOD1):c.180del (p.Glu62fs)
|
|
|
NM_000302.4(PLOD1):c.1811dup (p.Asn604fs)
|
|
|
NM_000302.4(PLOD1):c.1813C>T (p.Gln605Ter)
|
|
|
NM_000302.4(PLOD1):c.2025C>G (p.Tyr675Ter)
|
rs1434924385
|
|
NM_000302.4(PLOD1):c.272del (p.Lys91fs)
|
rs2100743480
|
|
NM_000302.4(PLOD1):c.274G>T (p.Glu92Ter)
|
|
|
NM_000302.4(PLOD1):c.327del (p.Arg111fs)
|
rs886042976
|
|
NM_000302.4(PLOD1):c.331del (p.Arg111fs)
|
|
|
NM_000302.4(PLOD1):c.367C>T (p.Gln123Ter)
|
rs1645691337
|
|
NM_000302.4(PLOD1):c.402del (p.Asp135fs)
|
rs886043926
|
|
NM_000302.4(PLOD1):c.404_423del (p.Asp135fs)
|
rs745409628
|
|
NM_000302.4(PLOD1):c.486dup (p.Asn163fs)
|
|
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NM_000302.4(PLOD1):c.579+1G>A
|
rs797044448
|
|
NM_000302.4(PLOD1):c.707_710del (p.Leu236fs)
|
|
|
NM_000302.4(PLOD1):c.756C>G (p.Tyr252Ter)
|
|
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NM_000302.4(PLOD1):c.86T>A (p.Leu29Ter)
|
|
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