List of variants studied for lung PEComa by Juno Genomics, Hangzhou Juno Genomics, Inc

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp)	rs45438205	0.00001
NM_000368.5(TSC1):c.1498C>T (p.Arg500Ter)	rs118203537
NM_000368.5(TSC1):c.741G>A (p.Trp247Ter)
NM_000548.5(TSC2):c.133_136del (p.Leu45fs)	rs137854360
NM_000548.5(TSC2):c.1372C>T (p.Arg458Ter)	rs45517169
NM_000548.5(TSC2):c.1723C>G (p.Leu575Val)	rs1419122104
NM_000548.5(TSC2):c.2105_2108del (p.Asp702fs)	rs886041563
NM_000548.5(TSC2):c.2251C>T (p.Arg751Ter)	rs45517222
NM_000548.5(TSC2):c.3003del (p.Ser1002fs)
NM_000548.5(TSC2):c.3131+1G>A	rs45506401
NM_000548.5(TSC2):c.3376del (p.Asp1126fs)	rs397515125
NM_000548.5(TSC2):c.4138_4195del (p.Gln1380fs)
NM_000548.5(TSC2):c.5024C>T (p.Pro1675Leu)	rs45483392
NM_000548.5(TSC2):c.716_719del (p.Phe239fs)

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