NM_004387.4(NKX2-5):c.73C>T (p.Arg25Cys)
|
rs28936670
|
0.01082
|
NM_004387.4(NKX2-5):c.848C>A (p.Pro283Gln)
|
rs375086983
|
0.00004
|
NM_004387.4(NKX2-5):c.656C>T (p.Ala219Val)
|
rs104893902
|
0.00001
|
NC_000005.10:g.(?_173232273)_(173245300_?)del
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|
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NC_000005.10:g.(?_173232549)_(173245300_?)del
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NC_000005.9:g.(?_172657631)_(172661899_?)del
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NC_000005.9:g.(?_172659748)_(172666091_?)del
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NM_004387.3(NKX2-5):c.-229_*465del
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|
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NM_004387.3(NKX2-5):c.-229_334del
|
rs1581111034
|
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NM_004387.4(NKX2-5):c.147_163delinsGCCTCCT (p.Ala50fs)
|
rs1561621507
|
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NM_004387.4(NKX2-5):c.160_161insCTGGCCCG (p.Glu54fs)
|
rs1761438700
|
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NM_004387.4(NKX2-5):c.167_186dup (p.Ala63fs)
|
rs2113906336
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NM_004387.4(NKX2-5):c.168C>G (p.Tyr56Ter)
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|
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NM_004387.4(NKX2-5):c.175C>G (p.Pro59Ala)
|
rs387906775
|
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NM_004387.4(NKX2-5):c.182C>G (p.Ala61Gly)
|
rs864321650
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NM_004387.4(NKX2-5):c.212del (p.Ala71fs)
|
rs2113906234
|
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NM_004387.4(NKX2-5):c.215_221del (p.Glu72fs)
|
rs606231358
|
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NM_004387.4(NKX2-5):c.228_229del (p.Pro77fs)
|
rs606231359
|
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NM_004387.4(NKX2-5):c.230del (p.Pro77fs)
|
rs2113906167
|
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NM_004387.4(NKX2-5):c.246dup (p.Ala83fs)
|
rs1761434175
|
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NM_004387.4(NKX2-5):c.253_256dup (p.Phe86fs)
|
rs2113906022
|
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NM_004387.4(NKX2-5):c.261del (p.Ala88fs)
|
rs2113906009
|
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NM_004387.4(NKX2-5):c.262del (p.Ala88fs)
|
rs606231360
|
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NM_004387.4(NKX2-5):c.270del (p.Ala91fs)
|
rs2113905948
|
|
NM_004387.4(NKX2-5):c.270dup (p.Ala91fs)
|
rs2113905948
|
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NM_004387.4(NKX2-5):c.279T>A (p.Tyr93Ter)
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|
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NM_004387.4(NKX2-5):c.281del (p.Pro94fs)
|
rs2113905914
|
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NM_004387.4(NKX2-5):c.291C>A (p.Tyr97Ter)
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|
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NM_004387.4(NKX2-5):c.310A>T (p.Lys104Ter)
|
rs1761430125
|
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NM_004387.4(NKX2-5):c.314_321del (p.Asp105fs)
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NM_004387.4(NKX2-5):c.328A>T (p.Lys110Ter)
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|
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NM_004387.4(NKX2-5):c.335-1G>T
|
rs864321645
|
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NM_004387.4(NKX2-5):c.340_341del (p.Cys114fs)
|
rs2113902320
|
|
NM_004387.4(NKX2-5):c.340_341dup (p.Leu116fs)
|
rs2113902320
|
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NM_004387.4(NKX2-5):c.342C>A (p.Cys114Ter)
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|
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NM_004387.4(NKX2-5):c.375dup (p.Glu126fs)
|
rs1561619801
|
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NM_004387.4(NKX2-5):c.377_378del (p.Glu126fs)
|
rs2113902216
|
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NM_004387.4(NKX2-5):c.380C>A (p.Ala127Glu)
|
rs387906774
|
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NM_004387.4(NKX2-5):c.391G>A (p.Glu131Lys)
|
rs864321648
|
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NM_004387.4(NKX2-5):c.417del (p.Lys140fs)
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|
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NM_004387.4(NKX2-5):c.423dup (p.Arg142fs)
|
rs2113902012
|
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NM_004387.4(NKX2-5):c.434dup (p.Ser146fs)
|
rs2113901953
|
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NM_004387.4(NKX2-5):c.437C>A (p.Ser146Ter)
|
rs397516909
|
|
NM_004387.4(NKX2-5):c.439del (p.Gln147fs)
|
rs1761360431
|
|
NM_004387.4(NKX2-5):c.443C>A (p.Ala148Glu)
|
rs864321649
|
|
NM_004387.4(NKX2-5):c.44A>T (p.Lys15Ile)
|
rs387906773
|
|
NM_004387.4(NKX2-5):c.461A>G (p.Glu154Gly)
|
rs587782928
|
|
NM_004387.4(NKX2-5):c.462del (p.Glu154fs)
|
rs2113901862
|
|
NM_004387.4(NKX2-5):c.486C>A (p.Tyr162Ter)
|
rs1456289029
|
|
NM_004387.4(NKX2-5):c.487del (p.Leu163fs)
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|
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NM_004387.4(NKX2-5):c.491C>A (p.Ser164Ter)
|
rs1554093487
|
|
NM_004387.4(NKX2-5):c.508C>T (p.Gln170Ter)
|
rs104893901
|
|
NM_004387.4(NKX2-5):c.512T>C (p.Leu171Pro)
|
rs797045791
|
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NM_004387.4(NKX2-5):c.533C>T (p.Thr178Met)
|
rs104893900
|
|
NM_004387.4(NKX2-5):c.542dup (p.Val182fs)
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|
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NM_004387.4(NKX2-5):c.543G>C (p.Gln181His)
|
rs72554028
|
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NM_004387.4(NKX2-5):c.554G>A (p.Trp185Ter)
|
|
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NM_004387.4(NKX2-5):c.568C>T (p.Arg190Cys)
|
rs104893906
|
|
NM_004387.4(NKX2-5):c.572A>G (p.Tyr191Cys)
|
|
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NM_004387.4(NKX2-5):c.585del (p.Gln196fs)
|
rs2113901553
|
|
NM_004387.4(NKX2-5):c.592C>T (p.Gln198Ter)
|
rs104893903
|
|
NM_004387.4(NKX2-5):c.598_599del (p.Gln200fs)
|
rs2113901504
|
|
NM_004387.4(NKX2-5):c.605_606del (p.Leu202fs)
|
rs1554093461
|
|
NM_004387.4(NKX2-5):c.618del (p.Leu207fs)
|
rs587782929
|
|
NM_004387.4(NKX2-5):c.625_646del (p.Pro209fs)
|
|
|
NM_004387.4(NKX2-5):c.629_648del (p.Pro210fs)
|
|
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NM_004387.4(NKX2-5):c.646C>T (p.Arg216Cys)
|
rs104893905
|
|
NM_004387.4(NKX2-5):c.646del (p.Arg216fs)
|
|
|
NM_004387.4(NKX2-5):c.693_700del (p.Asp233fs)
|
|
|
NM_004387.4(NKX2-5):c.694_710dup (p.Tyr237Ter)
|
|
|
NM_004387.4(NKX2-5):c.701C>A (p.Ser234Ter)
|
rs773922431
|
|
NM_004387.4(NKX2-5):c.711C>A (p.Tyr237Ter)
|
rs1554093433
|
|
NM_004387.4(NKX2-5):c.721_728del (p.Tyr241fs)
|
rs587782930
|
|
NM_004387.4(NKX2-5):c.744C>A (p.Tyr248Ter)
|
rs758539727
|
|
NM_004387.4(NKX2-5):c.747_748dup (p.Tyr250fs)
|
|
|
NM_004387.4(NKX2-5):c.768T>A (p.Tyr256Ter)
|
rs104893907
|
|
NM_004387.4(NKX2-5):c.768T>G (p.Tyr256Ter)
|
rs104893907
|
|
NM_004387.4(NKX2-5):c.769C>G (p.Pro257Ala)
|
rs387906776
|
|
NM_004387.4(NKX2-5):c.778_784dup (p.Ala262fs)
|
rs2113901025
|
|
NM_004387.4(NKX2-5):c.865AAC[2] (p.Asn291del)
|
rs756974215
|
|
NM_004387.4(NKX2-5):c.896A>G (p.Asp299Gly)
|
rs137852683
|
|