NM_006766.5(KAT6A):c.1133C>G (p.Ser378Ter)
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rs2150886525
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NM_006766.5(KAT6A):c.1146_1147insG (p.Tyr383fs)
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rs2150886504
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NM_006766.5(KAT6A):c.1312C>T (p.Arg438Ter)
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rs2150886359
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NM_006766.5(KAT6A):c.1405C>T (p.Arg469Ter)
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rs2150884950
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NM_006766.5(KAT6A):c.1569C>A (p.Tyr523Ter)
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rs1822870462
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NM_006766.5(KAT6A):c.1663del (p.Gln555fs)
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rs1822554467
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NM_006766.5(KAT6A):c.1786_1787del (p.Leu596fs)
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rs1822472679
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NM_006766.5(KAT6A):c.1903-5_1903-2del
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rs1587727050
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NM_006766.5(KAT6A):c.1928A>G (p.Asn643Ser)
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rs1822412202
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NM_006766.5(KAT6A):c.2218del (p.Arg740fs)
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rs1587723169
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NM_006766.5(KAT6A):c.2463del (p.Asn821fs)
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rs1661324893
|
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NM_006766.5(KAT6A):c.2927del (p.Gly976fs)
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|
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NM_006766.5(KAT6A):c.3034C>T (p.Arg1012Ter)
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rs768856558
|
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NM_006766.5(KAT6A):c.3039+1G>A
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rs1554681382
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NM_006766.5(KAT6A):c.3070C>T (p.Arg1024Ter)
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rs786200961
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NM_006766.5(KAT6A):c.3116_3117del (p.Ile1038_Ser1039insTer)
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rs786200959
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NM_006766.5(KAT6A):c.3306del (p.Lys1103fs)
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rs1587713892
|
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NM_006766.5(KAT6A):c.3318_3319insCT (p.Glu1107fs)
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rs1587713866
|
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NM_006766.5(KAT6A):c.3344_3350del (p.Asp1115fs)
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NM_006766.5(KAT6A):c.3377del (p.Ser1126fs)
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|
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NM_006766.5(KAT6A):c.3385C>T (p.Arg1129Ter)
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rs786200960
|
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NM_006766.5(KAT6A):c.3399_3400dup (p.Lys1134fs)
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|
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NM_006766.5(KAT6A):c.3443del (p.Lys1148fs)
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rs1554680245
|
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NM_006766.5(KAT6A):c.3631_3632del (p.Thr1210_Val1211insTer)
|
|
|
NM_006766.5(KAT6A):c.3661G>A (p.Glu1221Lys)
|
|
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NM_006766.5(KAT6A):c.3661G>T (p.Glu1221Ter)
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rs139494583
|
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NM_006766.5(KAT6A):c.3703G>T (p.Glu1235Ter)
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rs1821749145
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|
NM_006766.5(KAT6A):c.376A>T (p.Lys126Ter)
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rs755669455
|
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NM_006766.5(KAT6A):c.3820G>T (p.Glu1274Ter)
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|
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NM_006766.5(KAT6A):c.3824_3828del (p.Glu1275fs)
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|
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NM_006766.5(KAT6A):c.3879dup (p.Glu1294fs)
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rs786200952
|
|
NM_006766.5(KAT6A):c.4038del (p.Val1347fs)
|
rs1564005155
|
|
NM_006766.5(KAT6A):c.4069C>T (p.Gln1357Ter)
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rs1821721453
|
|
NM_006766.5(KAT6A):c.4108G>T (p.Glu1370Ter)
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rs138944476
|
|
NM_006766.5(KAT6A):c.4228_4232del (p.Lys1410fs)
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rs1554679889
|
|
NM_006766.5(KAT6A):c.4254_4257del (p.Glu1419fs)
|
rs1057516049
|
|
NM_006766.5(KAT6A):c.4398_4399del (p.Gln1467fs)
|
rs2150856163
|
|
NM_006766.5(KAT6A):c.4945C>T (p.Gln1649Ter)
|
rs1821661078
|
|
NM_006766.5(KAT6A):c.4980del (p.Gln1660fs)
|
|
|
NM_006766.5(KAT6A):c.5505_5506del (p.Asn1836fs)
|
|
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NM_006766.5(KAT6A):c.658C>T (p.Arg220Ter)
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rs1395351821
|
|
NM_006766.5(KAT6A):c.805C>T (p.Arg269Ter)
|
rs1564039543
|
|
NM_006766.5(KAT6A):c.856C>T (p.Arg286Ter)
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rs1564038539
|
|
NM_006766.5(KAT6A):c.907+1del
|
rs1564038389
|
|
NM_006766.5(KAT6A):c.931C>T (p.Arg311Ter)
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rs1064793721
|
|
NM_006766.5(KAT6A):c.949C>T (p.Arg317Ter)
|
rs1554688879
|
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NM_006766.5:c.3411del
|
rs2150857178
|
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