List of variants studied for protein S deficiency by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000313.4(PROS1):c.1043C>T (p.Ala348Val)	rs769125007	0.00007
NM_000313.4(PROS1):c.1252A>T (p.Asn418Tyr)	rs753603433	0.00001
NM_000313.4(PROS1):c.1085A>G (p.Gln362Arg)
NM_000313.4(PROS1):c.122G>A (p.Arg41His)
NM_000313.4(PROS1):c.154G>C (p.Gly52Arg)	rs2107202922
NM_000313.4(PROS1):c.1870+1G>C	rs780859898
NM_000313.4(PROS1):c.263G>A (p.Cys88Tyr)
NM_000313.4(PROS1):c.447G>T (p.Trp149Cys)
NM_000313.4(PROS1):c.595T>C (p.Cys199Arg)	rs2107170811
NM_000313.4(PROS1):c.740G>C (p.Cys247Ser)	rs2107158284
NM_000313.4(PROS1):c.76+2_76+3del	rs2107279030
NM_000313.4(PROS1):c.766T>A (p.Cys256Ser)	rs1576182848
NM_000313.4(PROS1):c.832G>T (p.Asp278Tyr)

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