List of variants studied for Protein S deficiency disease by ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000313.4(PROS1):c.1528G>A (p.Val510Met)	rs138925964	0.00331
NM_000313.4(PROS1):c.1095T>G (p.Asn365Lys)	rs199469491	0.00155
NM_000313.4(PROS1):c.284G>A (p.Gly95Glu)	rs144526169	0.00040
NM_000313.4(PROS1):c.*119T>C	rs886058924	0.00026
NM_000313.4(PROS1):c.293C>G (p.Thr98Ser)	rs142805170	0.00011
NM_000313.4(PROS1):c.988C>T (p.Arg330Trp)	rs536077692	0.00001
NC_000003.12:g.93879713_93906171del
NM_000313.4(PROS1):c.-39C>T	rs2107279407
NM_000313.4(PROS1):c.1088T>C (p.Leu363Pro)	rs2107150027
NM_000313.4(PROS1):c.1337T>C (p.Leu446Pro)	rs2107137626
NM_000313.4(PROS1):c.139G>T (p.Glu47Ter)	rs1709034856
NM_000313.4(PROS1):c.1568T>C (p.Met523Thr)	rs1483547708
NM_000313.4(PROS1):c.1764_1765del (p.Pro589fs)	rs2107125195
NM_000313.4(PROS1):c.76+1G>A	rs2107279041
NM_000313.4(PROS1):c.785del (p.Gly262fs)	rs1576182838

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