Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_000312.3(PROC):c.185A>C (p.Glu62Ala) | 5624 | PROC | Pathogenic | 121918148 | RCV000000699; | N | MedGen:C2676759,OMIM:612304 | 2 | 128178973 | 128178973 | NM_000312.3:c.185A>C | NP_000303.1:p.Glu62Ala | NC_000002.11:g.128178973A>C | OMIM Allelic Variant:612283.0009 | C2676759 612304 Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive | | |
NM_000312.3(PROC):c.226G>A (p.Val76Met) | 5624 | PROC | Pathogenic | 121918149 | RCV000000700; | N | MedGen:C2676759,OMIM:612304 | 2 | 128179014 | 128179014 | NM_000312.3:c.226G>A | NP_000303.1:p.Val76Met | NC_000002.11:g.128179014G>A | OMIM Allelic Variant:612283.0010 | C2676759 612304 Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive | | |
NM_000312.3(PROC):c.629C>T (p.Pro210Leu) | 5624 | PROC | Pathogenic | 121918145 | RCV000000696; | N | MedGen:C2676759,OMIM:612304 | 2 | 128183754 | 128183754 | NM_000312.3:c.629C>T | NP_000303.1:p.Pro210Leu | NC_000002.11:g.128183754C>T | OMIM Allelic Variant:612283.0006 | C2676759 612304 Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive | | |
NM_000312.3(PROC):c.631C>T (p.Arg211Trp) | 5624 | PROC | Likely pathogenic;Pathogenic | 121918143 | RCV000000693; RCV000000694; | N | MedGen:C2674321,OMIM:176860; MedGen:C2676759,OMIM:612304 | 2 | 128183756 | 128183756 | NM_000312.3:c.631C>T | NP_000303.1:p.Arg211Trp | NC_000002.11:g.128183756C>T | OMIM Allelic Variant:612283.0004 | C2674321 176860 Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant; C2676759 612304 Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive | | |
NM_000312.3(PROC):c.793C>T (p.Leu265Phe) | 5624 | PROC | Pathogenic | 121918156 | RCV000000710; | N | MedGen:C2676759,OMIM:612304 | 2 | 128184795 | 128184795 | NM_000312.3:c.793C>T | NP_000303.1:p.Leu265Phe | NC_000002.11:g.128184795C>T | OMIM Allelic Variant:612283.0020 | C2676759 612304 Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive | | |
NM_000312.3(PROC):c.866C>T (p.Pro289Leu) | 5624 | PROC | Pathogenic | 121918151 | RCV000000702; | N | MedGen:C2676759,OMIM:612304 | 2 | 128186002 | 128186002 | NM_000312.3:c.866C>T | NP_000303.1:p.Pro289Leu | NC_000002.11:g.128186002C>T | OMIM Allelic Variant:612283.0012 | C2676759 612304 Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive | | |
NM_000312.3(PROC):c.902C>T (p.Ala301Val) | 5624 | PROC | Pathogenic | 121918144 | RCV000000695; | N | MedGen:C2676759,OMIM:612304 | 2 | 128186038 | 128186038 | NM_000312.3:c.902C>T | NP_000303.1:p.Ala301Val | NC_000002.11:g.128186038C>T | OMIM Allelic Variant:612283.0005 | C2676759 612304 Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive | | |
NM_000312.3(PROC):c.925G>A (p.Ala309Thr) | 5624 | PROC | Pathogenic | 121918146 | RCV000000697; | N | MedGen:C2676759,OMIM:612304 | 2 | 128186061 | 128186061 | NM_000312.3:c.925G>A | NP_000303.1:p.Ala309Thr | NC_000002.11:g.128186061G>A | OMIM Allelic Variant:612283.0007 | C2676759 612304 Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive | | |
NM_000312.3(PROC):c.1000G>A (p.Gly334Ser) | 5624 | PROC | Pathogenic | 121918150 | RCV000195879; RCV000000701; | N | MedGen:C2674321,OMIM:176860; MedGen:C2676759,OMIM:612304 | 2 | 128186136 | 128186136 | NM_000312.3:c.1000G>A | NP_000303.1:p.Gly334Ser | NC_000002.11:g.128186136G>A | OMIM Allelic Variant:612283.0011 | C2674321 176860 Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant; C2676759 612304 Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive | | |
NM_000312.3(PROC):c.1027G>A (p.Gly343Ser) | 5624 | PROC | Pathogenic | 121918147 | RCV000000698; | N | MedGen:C2676759,OMIM:612304 | 2 | 128186163 | 128186163 | NM_000312.3:c.1027G>A | NP_000303.1:p.Gly343Ser | NC_000002.11:g.128186163G>A | OMIM Allelic Variant:612283.0008 | C2676759 612304 Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive | | |
NM_000312.3(PROC):c.1335C>G (p.Ile445Met) | 5624 | PROC | Pathogenic | 121918157 | RCV000000711; | N | MedGen:C2676759,OMIM:612304 | 2 | 128186471 | 128186471 | NM_000312.3:c.1335C>G | NP_000303.1:p.Ile445Met | NC_000002.11:g.128186471C>G | OMIM Allelic Variant:612283.0021 | C2676759 612304 Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive | | |