Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.31091243A= | CA2216889106 | VKORC1 | c.383T= (p.Leu128=) c.444T= (p.Ala148=) c.465T= (p.Ala155=) c.273T= (p.Ala91=) c.477T= (p.Ala159=) c.345T= c.68T= (p.Leu23=) c.480T= (p.Ala160=) c.283+2069T= (n.283+2069T=) c.173+3314T= (n.173+3314T=) c.256T= c.467T= (p.Leu156=) n.1171T= | |
16 | g.31091243A>C | CA115415 | VKORC1 | c.383T>G (p.Leu128Arg) c.444T>G (p.Ala148=) c.465T>G (p.Ala155=) c.273T>G (p.Ala91=) c.477T>G (p.Ala159=) c.345T>G c.68T>G (p.Leu23Arg) c.480T>G (p.Ala160=) c.283+2069T>G (n.283+2069T>G) c.173+3314T>G (n.173+3314T>G) c.256T>G c.467T>G (p.Leu156Arg) n.1171T>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.31091243A>G | CA395729653 | VKORC1 | c.383T>C (p.Leu128Pro) c.444T>C (p.Ala148=) c.465T>C (p.Ala155=) c.273T>C (p.Ala91=) c.477T>C (p.Ala159=) c.345T>C c.68T>C (p.Leu23Pro) c.480T>C (p.Ala160=) c.283+2069T>C (n.283+2069T>C) c.173+3314T>C (n.173+3314T>C) c.256T>C c.467T>C (p.Leu156Pro) n.1171T>C | |
16 | g.31091243A>T | CA395729651 | VKORC1 | c.383T>A (p.Leu128His) c.444T>A (p.Ala148=) c.465T>A (p.Ala155=) c.273T>A (p.Ala91=) c.477T>A (p.Ala159=) c.345T>A c.68T>A (p.Leu23His) c.480T>A (p.Ala160=) c.283+2069T>A (n.283+2069T>A) c.173+3314T>A (n.173+3314T>A) c.256T>A c.467T>A (p.Leu156His) n.1171T>A | |
16 | g.31091244G>A | CA395729655 | VKORC1 | c.382C>T (p.Leu128Phe) c.443C>T (p.Ala148Val) c.464C>T (p.Ala155Val) c.272C>T (p.Ala91Val) c.476C>T (p.Ala159Val) c.344C>T c.67C>T (p.Leu23Phe) c.479C>T (p.Ala160Val) c.283+2068C>T (n.283+2068C>T) c.173+3313C>T (n.173+3313C>T) c.255C>T c.466C>T (p.Leu156Phe) n.1170C>T | gnomAD v4 |
16 | g.31091244G>C | CA395729657 | VKORC1 | c.382C>G (p.Leu128Val) c.443C>G (p.Ala148Gly) c.464C>G (p.Ala155Gly) c.272C>G (p.Ala91Gly) c.476C>G (p.Ala159Gly) c.344C>G c.67C>G (p.Leu23Val) c.479C>G (p.Ala160Gly) c.283+2068C>G (n.283+2068C>G) c.173+3313C>G (n.173+3313C>G) c.255C>G c.466C>G (p.Leu156Val) n.1170C>G | |
16 | g.31091244G>T | CA395729658 | VKORC1 | c.382C>A (p.Leu128Ile) c.443C>A (p.Ala148Asp) c.464C>A (p.Ala155Asp) c.272C>A (p.Ala91Asp) c.476C>A (p.Ala159Asp) c.344C>A c.67C>A (p.Leu23Ile) c.479C>A (p.Ala160Asp) c.283+2068C>A (n.283+2068C>A) c.173+3313C>A (n.173+3313C>A) c.255C>A c.466C>A (p.Leu156Ile) n.1170C>A | |
16 | g.31091245C>A | CA395729660 | VKORC1 | c.381G>T (p.Val127=) c.442G>T (p.Ala148Ser) c.463G>T (p.Ala155Ser) c.271G>T (p.Ala91Ser) c.475G>T (p.Ala159Ser) c.343G>T c.66G>T (p.Val22=) c.478G>T (p.Ala160Ser) c.283+2067G>T (n.283+2067G>T) c.173+3312G>T (n.173+3312G>T) c.254G>T c.465G>T (p.Val155=) n.1169G>T | |
16 | g.31091245C>G | CA395729661 | VKORC1 | c.381G>C (p.Val127=) c.442G>C (p.Ala148Pro) c.463G>C (p.Ala155Pro) c.271G>C (p.Ala91Pro) c.475G>C (p.Ala159Pro) c.343G>C c.66G>C (p.Val22=) c.478G>C (p.Ala160Pro) c.283+2067G>C (n.283+2067G>C) c.173+3312G>C (n.173+3312G>C) c.254G>C c.465G>C (p.Val155=) n.1169G>C | |
16 | g.31091245C>T | CA395729662 | VKORC1 | c.381G>A (p.Val127=) c.442G>A (p.Ala148Thr) c.463G>A (p.Ala155Thr) c.271G>A (p.Ala91Thr) c.475G>A (p.Ala159Thr) c.343G>A c.66G>A (p.Val22=) c.478G>A (p.Ala160Thr) c.283+2067G>A (n.283+2067G>A) c.173+3312G>A (n.173+3312G>A) c.254G>A c.465G>A (p.Val155=) n.1169G>A | |
16 | g.31091246A>C | CA395729663 | VKORC1 | c.380T>G (p.Val127Gly) c.441T>G (p.Arg147=) c.462T>G (p.Arg154=) c.270T>G (p.Arg90=) c.474T>G (p.Arg158=) c.342T>G c.65T>G (p.Val22Gly) c.477T>G (p.Arg159=) c.283+2066T>G (n.283+2066T>G) c.173+3311T>G (n.173+3311T>G) c.253T>G c.464T>G (p.Val155Gly) n.1168T>G | |
16 | g.31091246A>G | CA395729665 | VKORC1 | c.380T>C (p.Val127Ala) c.441T>C (p.Arg147=) c.462T>C (p.Arg154=) c.270T>C (p.Arg90=) c.474T>C (p.Arg158=) c.342T>C c.65T>C (p.Val22Ala) c.477T>C (p.Arg159=) c.283+2066T>C (n.283+2066T>C) c.173+3311T>C (n.173+3311T>C) c.253T>C c.464T>C (p.Val155Ala) n.1168T>C | |
16 | g.31091246A>T | CA395729666 | VKORC1 | c.380T>A (p.Val127Glu) c.441T>A (p.Arg147=) c.462T>A (p.Arg154=) c.270T>A (p.Arg90=) c.474T>A (p.Arg158=) c.342T>A c.65T>A (p.Val22Glu) c.477T>A (p.Arg159=) c.283+2066T>A (n.283+2066T>A) c.173+3311T>A (n.173+3311T>A) c.253T>A c.464T>A (p.Val155Glu) n.1168T>A | |
16 | g.31091247C>A | CA395729667 | VKORC1 | c.379G>T (p.Val127Leu) c.440G>T (p.Arg147Leu) c.461G>T (p.Arg154Leu) c.269G>T (p.Arg90Leu) c.473G>T (p.Arg158Leu) c.341G>T c.64G>T (p.Val22Leu) c.476G>T (p.Arg159Leu) c.283+2065G>T (n.283+2065G>T) c.173+3310G>T (n.173+3310G>T) c.252G>T c.463G>T (p.Val155Leu) n.1167G>T | gnomAD v4 |
16 | g.31091247C= | CA2216889116 | VKORC1 | c.379G= (p.Val127=) c.440G= (p.Arg147=) c.461G= (p.Arg154=) c.269G= (p.Arg90=) c.473G= (p.Arg158=) c.341G= c.64G= (p.Val22=) c.476G= (p.Arg159=) c.283+2065G= (n.283+2065G=) c.173+3310G= (n.173+3310G=) c.252G= c.463G= (p.Val155=) n.1167G= | |
16 | g.31091247C>G | CA395729668 | VKORC1 | c.379G>C (p.Val127Leu) c.440G>C (p.Arg147Pro) c.461G>C (p.Arg154Pro) c.269G>C (p.Arg90Pro) c.473G>C (p.Arg158Pro) c.341G>C c.64G>C (p.Val22Leu) c.476G>C (p.Arg159Pro) c.283+2065G>C (n.283+2065G>C) c.173+3310G>C (n.173+3310G>C) c.252G>C c.463G>C (p.Val155Leu) n.1167G>C | dbSNP gnomAD v3 gnomAD v4 |
16 | g.31091247C>T | CA8021124 | VKORC1 | c.379G>A (p.Val127Met) c.440G>A (p.Arg147His) c.461G>A (p.Arg154His) c.269G>A (p.Arg90His) c.473G>A (p.Arg158His) c.341G>A c.64G>A (p.Val22Met) c.476G>A (p.Arg159His) c.283+2065G>A (n.283+2065G>A) c.173+3310G>A (n.173+3310G>A) c.252G>A c.463G>A (p.Val155Met) n.1167G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.31091248G>A | CA8021125 | VKORC1 | c.378C>T (p.Phe126=) c.439C>T (p.Arg147Cys) c.460C>T (p.Arg154Cys) c.268C>T (p.Arg90Cys) c.472C>T (p.Arg158Cys) c.340C>T c.63C>T (p.Phe21=) c.475C>T (p.Arg159Cys) c.283+2064C>T (n.283+2064C>T) c.173+3309C>T (n.173+3309C>T) c.251C>T c.462C>T (p.Phe154=) n.1166C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.31091248G>C | CA395729672 | VKORC1 | c.378C>G (p.Phe126Leu) c.439C>G (p.Arg147Gly) c.460C>G (p.Arg154Gly) c.268C>G (p.Arg90Gly) c.472C>G (p.Arg158Gly) c.340C>G c.63C>G (p.Phe21Leu) c.475C>G (p.Arg159Gly) c.283+2064C>G (n.283+2064C>G) c.173+3309C>G (n.173+3309C>G) c.251C>G c.462C>G (p.Phe154Leu) n.1166C>G | |
16 | g.31091248G= | CA2216889119 | VKORC1 | c.378C= (p.Phe126=) c.439C= (p.Arg147=) c.460C= (p.Arg154=) c.268C= (p.Arg90=) c.472C= (p.Arg158=) c.340C= c.63C= (p.Phe21=) c.475C= (p.Arg159=) c.283+2064C= (n.283+2064C=) c.173+3309C= (n.173+3309C=) c.251C= c.462C= (p.Phe154=) n.1166C= | |
16 | g.31091248G>T | CA395729670 | VKORC1 | c.378C>A (p.Phe126Leu) c.439C>A (p.Arg147Ser) c.460C>A (p.Arg154Ser) c.268C>A (p.Arg90Ser) c.472C>A (p.Arg158Ser) c.340C>A c.63C>A (p.Phe21Leu) c.475C>A (p.Arg159Ser) c.283+2064C>A (n.283+2064C>A) c.173+3309C>A (n.173+3309C>A) c.251C>A c.462C>A (p.Phe154Leu) n.1166C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.31091251_31091253del | CA2632821520 | VKORC1 | c.376_378del (p.Phe126del) c.437_439del (p.Leu146del) c.458_460del (p.Leu153del) c.266_268del (p.Leu89del) c.470_472del (p.Leu157del) c.338_340del c.61_63del (p.Phe21del) c.473_475del (p.Leu158del) c.283+2062_283+2064del (n.283+2062_283+2064del) c.173+3307_173+3309del (n.173+3307_173+3309del) c.249_251del c.460_462del (p.Phe154del) n.1164_1166del | gnomAD v4 |
16 | g.31091249A= | CA2216889126 | VKORC1 | c.377T= (p.Phe126=) c.438T= (p.Leu146=) c.459T= (p.Leu153=) c.267T= (p.Leu89=) c.471T= (p.Leu157=) c.339T= c.62T= (p.Phe21=) c.474T= (p.Leu158=) c.283+2063T= (n.283+2063T=) c.173+3308T= (n.173+3308T=) c.250T= c.461T= (p.Phe154=) n.1165T= | |
16 | g.31091249A>C | CA395729675 | VKORC1 | c.377T>G (p.Phe126Cys) c.438T>G (p.Leu146=) c.459T>G (p.Leu153=) c.267T>G (p.Leu89=) c.471T>G (p.Leu157=) c.339T>G c.62T>G (p.Phe21Cys) c.474T>G (p.Leu158=) c.283+2063T>G (n.283+2063T>G) c.173+3308T>G (n.173+3308T>G) c.250T>G c.461T>G (p.Phe154Cys) n.1165T>G | |
16 | g.31091249A>G | CA280619941 | VKORC1 | c.377T>C (p.Phe126Ser) c.438T>C (p.Leu146=) c.459T>C (p.Leu153=) c.267T>C (p.Leu89=) c.471T>C (p.Leu157=) c.339T>C c.62T>C (p.Phe21Ser) c.474T>C (p.Leu158=) c.283+2063T>C (n.283+2063T>C) c.173+3308T>C (n.173+3308T>C) c.250T>C c.461T>C (p.Phe154Ser) n.1165T>C | dbSNP gnomAD v3 gnomAD v4 |
16 | g.31091249A>T | CA395729677 | VKORC1 | c.377T>A (p.Phe126Tyr) c.438T>A (p.Leu146=) c.459T>A (p.Leu153=) c.267T>A (p.Leu89=) c.471T>A (p.Leu157=) c.339T>A c.62T>A (p.Phe21Tyr) c.474T>A (p.Leu158=) c.283+2063T>A (n.283+2063T>A) c.173+3308T>A (n.173+3308T>A) c.250T>A c.461T>A (p.Phe154Tyr) n.1165T>A | |
16 | g.31091250A>C | CA395729679 | VKORC1 | c.376T>G (p.Phe126Val) c.437T>G (p.Leu146Arg) c.458T>G (p.Leu153Arg) c.266T>G (p.Leu89Arg) c.470T>G (p.Leu157Arg) c.338T>G c.61T>G (p.Phe21Val) c.473T>G (p.Leu158Arg) c.283+2062T>G (n.283+2062T>G) c.173+3307T>G (n.173+3307T>G) c.249T>G c.460T>G (p.Phe154Val) n.1164T>G | |
16 | g.31091250A>G | CA395729680 | VKORC1 | c.376T>C (p.Phe126Leu) c.437T>C (p.Leu146Pro) c.458T>C (p.Leu153Pro) c.266T>C (p.Leu89Pro) c.470T>C (p.Leu157Pro) c.338T>C c.61T>C (p.Phe21Leu) c.473T>C (p.Leu158Pro) c.283+2062T>C (n.283+2062T>C) c.173+3307T>C (n.173+3307T>C) c.249T>C c.460T>C (p.Phe154Leu) n.1164T>C | |
16 | g.31091250A>T | CA395729682 | VKORC1 | c.376T>A (p.Phe126Ile) c.437T>A (p.Leu146His) c.458T>A (p.Leu153His) c.266T>A (p.Leu89His) c.470T>A (p.Leu157His) c.338T>A c.61T>A (p.Phe21Ile) c.473T>A (p.Leu158His) c.283+2062T>A (n.283+2062T>A) c.173+3307T>A (n.173+3307T>A) c.249T>A c.460T>A (p.Phe154Ile) n.1164T>A | |
16 | g.31091251G>A | CA395729683 | VKORC1 | c.375C>T (p.Phe125=) c.436C>T (p.Leu146Phe) c.457C>T (p.Leu153Phe) c.265C>T (p.Leu89Phe) c.469C>T (p.Leu157Phe) c.337C>T c.60C>T (p.Phe20=) c.472C>T (p.Leu158Phe) c.283+2061C>T (n.283+2061C>T) c.173+3306C>T (n.173+3306C>T) c.248C>T c.459C>T (p.Phe153=) n.1163C>T | |
16 | g.31091251G>C | CA8021126 | VKORC1 | c.375C>G (p.Phe125Leu) c.436C>G (p.Leu146Val) c.457C>G (p.Leu153Val) c.265C>G (p.Leu89Val) c.469C>G (p.Leu157Val) c.337C>G c.60C>G (p.Phe20Leu) c.472C>G (p.Leu158Val) c.283+2061C>G (n.283+2061C>G) c.173+3306C>G (n.173+3306C>G) c.248C>G c.459C>G (p.Phe153Leu) n.1163C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.31091251G= | CA2216889131 | VKORC1 | c.375C= (p.Phe125=) c.436C= (p.Leu146=) c.457C= (p.Leu153=) c.265C= (p.Leu89=) c.469C= (p.Leu157=) c.337C= c.60C= (p.Phe20=) c.472C= (p.Leu158=) c.283+2061C= (n.283+2061C=) c.173+3306C= (n.173+3306C=) c.248C= c.459C= (p.Phe153=) n.1163C= | |
16 | g.31091251G>T | CA395729685 | VKORC1 | c.375C>A (p.Phe125Leu) c.436C>A (p.Leu146Ile) c.457C>A (p.Leu153Ile) c.265C>A (p.Leu89Ile) c.469C>A (p.Leu157Ile) c.337C>A c.60C>A (p.Phe20Leu) c.472C>A (p.Leu158Ile) c.283+2061C>A (n.283+2061C>A) c.173+3306C>A (n.173+3306C>A) c.248C>A c.459C>A (p.Phe153Leu) n.1163C>A | |
16 | g.31091252A>C | CA395729690 | VKORC1 | c.374T>G (p.Phe125Cys) c.435T>G (p.Val145=) c.456T>G (p.Val152=) c.264T>G (p.Val88=) c.468T>G (p.Val156=) c.336T>G c.59T>G (p.Phe20Cys) c.471T>G (p.Val157=) c.283+2060T>G (n.283+2060T>G) c.173+3305T>G (n.173+3305T>G) c.247T>G c.458T>G (p.Phe153Cys) n.1162T>G | |
16 | g.31091252A>G | CA395729692 | VKORC1 | c.374T>C (p.Phe125Ser) c.435T>C (p.Val145=) c.456T>C (p.Val152=) c.264T>C (p.Val88=) c.468T>C (p.Val156=) c.336T>C c.59T>C (p.Phe20Ser) c.471T>C (p.Val157=) c.283+2060T>C (n.283+2060T>C) c.173+3305T>C (n.173+3305T>C) c.247T>C c.458T>C (p.Phe153Ser) n.1162T>C | |
16 | g.31091252A>T | CA395729694 | VKORC1 | c.374T>A (p.Phe125Tyr) c.435T>A (p.Val145=) c.456T>A (p.Val152=) c.264T>A (p.Val88=) c.468T>A (p.Val156=) c.336T>A c.59T>A (p.Phe20Tyr) c.471T>A (p.Val157=) c.283+2060T>A (n.283+2060T>A) c.173+3305T>A (n.173+3305T>A) c.247T>A c.458T>A (p.Phe153Tyr) n.1162T>A | |
16 | g.31091253A= | CA2216889136 | VKORC1 | c.373T= (p.Phe125=) c.434T= (p.Val145=) c.455T= (p.Val152=) c.263T= (p.Val88=) c.467T= (p.Val156=) c.335T= c.58T= (p.Phe20=) c.470T= (p.Val157=) c.283+2059T= (n.283+2059T=) c.173+3304T= (n.173+3304T=) c.246T= c.457T= (p.Phe153=) n.1161T= | |
16 | g.31091253A>C | CA395729700 | VKORC1 | c.373T>G (p.Phe125Val) c.434T>G (p.Val145Gly) c.455T>G (p.Val152Gly) c.263T>G (p.Val88Gly) c.467T>G (p.Val156Gly) c.335T>G c.58T>G (p.Phe20Val) c.470T>G (p.Val157Gly) c.283+2059T>G (n.283+2059T>G) c.173+3304T>G (n.173+3304T>G) c.246T>G c.457T>G (p.Phe153Val) n.1161T>G | |
16 | g.31091253A>G | CA395729696 | VKORC1 | c.373T>C (p.Phe125Leu) c.434T>C (p.Val145Ala) c.455T>C (p.Val152Ala) c.263T>C (p.Val88Ala) c.467T>C (p.Val156Ala) c.335T>C c.58T>C (p.Phe20Leu) c.470T>C (p.Val157Ala) c.283+2059T>C (n.283+2059T>C) c.173+3304T>C (n.173+3304T>C) c.246T>C c.457T>C (p.Phe153Leu) n.1161T>C | |
16 | g.31091253A>T | CA395729698 | VKORC1 | c.373T>A (p.Phe125Ile) c.434T>A (p.Val145Asp) c.455T>A (p.Val152Asp) c.263T>A (p.Val88Asp) c.467T>A (p.Val156Asp) c.335T>A c.58T>A (p.Phe20Ile) c.470T>A (p.Val157Asp) c.283+2059T>A (n.283+2059T>A) c.173+3304T>A (n.173+3304T>A) c.246T>A c.457T>A (p.Phe153Ile) n.1161T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.31091254C>A | CA395729701 | VKORC1 | c.372G>T (p.Leu124=) c.433G>T (p.Val145Phe) c.454G>T (p.Val152Phe) c.262G>T (p.Val88Phe) c.466G>T (p.Val156Phe) c.334G>T c.57G>T (p.Leu19=) c.469G>T (p.Val157Phe) c.283+2058G>T (n.283+2058G>T) c.173+3303G>T (n.173+3303G>T) c.245G>T c.456G>T (p.Leu152=) n.1160G>T | |
16 | g.31091254C>G | CA395729702 | VKORC1 | c.372G>C (p.Leu124=) c.433G>C (p.Val145Leu) c.454G>C (p.Val152Leu) c.262G>C (p.Val88Leu) c.466G>C (p.Val156Leu) c.334G>C c.57G>C (p.Leu19=) c.469G>C (p.Val157Leu) c.283+2058G>C (n.283+2058G>C) c.173+3303G>C (n.173+3303G>C) c.245G>C c.456G>C (p.Leu152=) n.1160G>C | |
16 | g.31091254C>T | CA395729703 | VKORC1 | c.372G>A (p.Leu124=) c.433G>A (p.Val145Ile) c.454G>A (p.Val152Ile) c.262G>A (p.Val88Ile) c.466G>A (p.Val156Ile) c.334G>A c.57G>A (p.Leu19=) c.469G>A (p.Val157Ile) c.283+2058G>A (n.283+2058G>A) c.173+3303G>A (n.173+3303G>A) c.245G>A c.456G>A (p.Leu152=) n.1160G>A | |
16 | g.31091255A>C | CA395729705 | VKORC1 | c.371T>G (p.Leu124Arg) c.432T>G (p.Pro144=) c.453T>G (p.Pro151=) c.261T>G (p.Pro87=) c.465T>G (p.Pro155=) c.333T>G c.56T>G (p.Leu19Arg) c.468T>G (p.Pro156=) c.283+2057T>G (n.283+2057T>G) c.173+3302T>G (n.173+3302T>G) c.244T>G c.455T>G (p.Leu152Arg) n.1159T>G | |
16 | g.31091255A>G | CA395729707 | VKORC1 | c.371T>C (p.Leu124Pro) c.432T>C (p.Pro144=) c.453T>C (p.Pro151=) c.261T>C (p.Pro87=) c.465T>C (p.Pro155=) c.333T>C c.56T>C (p.Leu19Pro) c.468T>C (p.Pro156=) c.283+2057T>C (n.283+2057T>C) c.173+3302T>C (n.173+3302T>C) c.244T>C c.455T>C (p.Leu152Pro) n.1159T>C | |
16 | g.31091255A>T | CA395729708 | VKORC1 | c.371T>A (p.Leu124Gln) c.432T>A (p.Pro144=) c.453T>A (p.Pro151=) c.261T>A (p.Pro87=) c.465T>A (p.Pro155=) c.333T>A c.56T>A (p.Leu19Gln) c.468T>A (p.Pro156=) c.283+2057T>A (n.283+2057T>A) c.173+3302T>A (n.173+3302T>A) c.244T>A c.455T>A (p.Leu152Gln) n.1159T>A | |
16 | g.31091256G>A | CA395729709 | VKORC1 | c.370C>T (p.Leu124=) c.431C>T (p.Pro144Leu) c.452C>T (p.Pro151Leu) c.260C>T (p.Pro87Leu) c.464C>T (p.Pro155Leu) c.332C>T c.55C>T (p.Leu19=) c.467C>T (p.Pro156Leu) c.283+2056C>T (n.283+2056C>T) c.173+3301C>T (n.173+3301C>T) c.243C>T c.454C>T (p.Leu152=) n.1158C>T | |
16 | g.31091256G>C | CA395729711 | VKORC1 | c.370C>G (p.Leu124Val) c.431C>G (p.Pro144Arg) c.452C>G (p.Pro151Arg) c.260C>G (p.Pro87Arg) c.464C>G (p.Pro155Arg) c.332C>G c.55C>G (p.Leu19Val) c.467C>G (p.Pro156Arg) c.283+2056C>G (n.283+2056C>G) c.173+3301C>G (n.173+3301C>G) c.243C>G c.454C>G (p.Leu152Val) n.1158C>G | dbSNP gnomAD v2 gnomAD v4 |
16 | g.31091256G= | CA2216889139 | VKORC1 | c.370C= (p.Leu124=) c.431C= (p.Pro144=) c.452C= (p.Pro151=) c.260C= (p.Pro87=) c.464C= (p.Pro155=) c.332C= c.55C= (p.Leu19=) c.467C= (p.Pro156=) c.283+2056C= (n.283+2056C=) c.173+3301C= (n.173+3301C=) c.243C= c.454C= (p.Leu152=) n.1158C= | |
16 | g.31091256G>T | CA395729712 | VKORC1 | c.370C>A (p.Leu124Met) c.431C>A (p.Pro144His) c.452C>A (p.Pro151His) c.260C>A (p.Pro87His) c.464C>A (p.Pro155His) c.332C>A c.55C>A (p.Leu19Met) c.467C>A (p.Pro156His) c.283+2056C>A (n.283+2056C>A) c.173+3301C>A (n.173+3301C>A) c.243C>A c.454C>A (p.Leu152Met) n.1158C>A | |
16 | g.31091257G>A | CA395729715 | VKORC1 | c.369C>T (p.Ile123=) c.430C>T (p.Pro144Ser) c.451C>T (p.Pro151Ser) c.259C>T (p.Pro87Ser) c.463C>T (p.Pro155Ser) c.331C>T c.54C>T (p.Ile18=) c.466C>T (p.Pro156Ser) c.283+2055C>T (n.283+2055C>T) c.173+3300C>T (n.173+3300C>T) c.242C>T c.453C>T (p.Ile151=) n.1157C>T | |
16 | g.31091257G>C | CA395729716 | VKORC1 | c.369C>G (p.Ile123Met) c.430C>G (p.Pro144Ala) c.451C>G (p.Pro151Ala) c.259C>G (p.Pro87Ala) c.463C>G (p.Pro155Ala) c.331C>G c.54C>G (p.Ile18Met) c.466C>G (p.Pro156Ala) c.283+2055C>G (n.283+2055C>G) c.173+3300C>G (n.173+3300C>G) c.242C>G c.453C>G (p.Ile151Met) n.1157C>G | |
16 | g.31091257G= | CA2216889145 | VKORC1 | c.369C= (p.Ile123=) c.430C= (p.Pro144=) c.451C= (p.Pro151=) c.259C= (p.Pro87=) c.463C= (p.Pro155=) c.331C= c.54C= (p.Ile18=) c.466C= (p.Pro156=) c.283+2055C= (n.283+2055C=) c.173+3300C= (n.173+3300C=) c.242C= c.453C= (p.Ile151=) n.1157C= | |
16 | g.31091257G>T | CA395729717 | VKORC1 | c.369C>A (p.Ile123=) c.430C>A (p.Pro144Thr) c.451C>A (p.Pro151Thr) c.259C>A (p.Pro87Thr) c.463C>A (p.Pro155Thr) c.331C>A c.54C>A (p.Ile18=) c.466C>A (p.Pro156Thr) c.283+2055C>A (n.283+2055C>A) c.173+3300C>A (n.173+3300C>A) c.242C>A c.453C>A (p.Ile151=) n.1157C>A | dbSNP |
16 | g.31091258A>C | CA395729719 | VKORC1 | c.368T>G (p.Ile123Ser) c.429T>G (p.Asp143Glu) c.450T>G (p.Asp150Glu) c.258T>G (p.Asp86Glu) c.462T>G (p.Asp154Glu) c.330T>G c.53T>G (p.Ile18Ser) c.465T>G (p.Asp155Glu) c.283+2054T>G (n.283+2054T>G) c.173+3299T>G (n.173+3299T>G) c.241T>G c.452T>G (p.Ile151Ser) n.1156T>G | |
16 | g.31091258A>G | CA395729720 | VKORC1 | c.368T>C (p.Ile123Thr) c.429T>C (p.Asp143=) c.450T>C (p.Asp150=) c.258T>C (p.Asp86=) c.462T>C (p.Asp154=) c.330T>C c.53T>C (p.Ile18Thr) c.465T>C (p.Asp155=) c.283+2054T>C (n.283+2054T>C) c.173+3299T>C (n.173+3299T>C) c.241T>C c.452T>C (p.Ile151Thr) n.1156T>C | |
16 | g.31091258A>T | CA395729718 | VKORC1 | c.368T>A (p.Ile123Asn) c.429T>A (p.Asp143Glu) c.450T>A (p.Asp150Glu) c.258T>A (p.Asp86Glu) c.462T>A (p.Asp154Glu) c.330T>A c.53T>A (p.Ile18Asn) c.465T>A (p.Asp155Glu) c.283+2054T>A (n.283+2054T>A) c.173+3299T>A (n.173+3299T>A) c.241T>A c.452T>A (p.Ile151Asn) n.1156T>A | |
16 | g.31091259T>A | CA395729721 | VKORC1 | c.367A>T (p.Ile123Phe) c.428A>T (p.Asp143Val) c.449A>T (p.Asp150Val) c.257A>T (p.Asp86Val) c.461A>T (p.Asp154Val) c.329A>T c.52A>T (p.Ile18Phe) c.464A>T (p.Asp155Val) c.283+2053A>T (n.283+2053A>T) c.173+3298A>T (n.173+3298A>T) c.240A>T c.451A>T (p.Ile151Phe) n.1155A>T | |
16 | g.31091259T>C | CA395729722 | VKORC1 | c.367A>G (p.Ile123Val) c.428A>G (p.Asp143Gly) c.449A>G (p.Asp150Gly) c.257A>G (p.Asp86Gly) c.461A>G (p.Asp154Gly) c.329A>G c.52A>G (p.Ile18Val) c.464A>G (p.Asp155Gly) c.283+2053A>G (n.283+2053A>G) c.173+3298A>G (n.173+3298A>G) c.240A>G c.451A>G (p.Ile151Val) n.1155A>G | dbSNP |
16 | g.31091259T>G | CA395729723 | VKORC1 | c.367A>C (p.Ile123Leu) c.428A>C (p.Asp143Ala) c.449A>C (p.Asp150Ala) c.257A>C (p.Asp86Ala) c.461A>C (p.Asp154Ala) c.329A>C c.52A>C (p.Ile18Leu) c.464A>C (p.Asp155Ala) c.283+2053A>C (n.283+2053A>C) c.173+3298A>C (n.173+3298A>C) c.240A>C c.451A>C (p.Ile151Leu) n.1155A>C | |
16 | g.31091259T= | CA2216889149 | VKORC1 | c.367A= (p.Ile123=) c.428A= (p.Asp143=) c.449A= (p.Asp150=) c.257A= (p.Asp86=) c.461A= (p.Asp154=) c.329A= c.52A= (p.Ile18=) c.464A= (p.Asp155=) c.283+2053A= (n.283+2053A=) c.173+3298A= (n.173+3298A=) c.240A= c.451A= (p.Ile151=) n.1155A= | |
16 | g.31091260C>A | CA395729724 | VKORC1 | c.366G>T (p.Trp122Cys) c.427G>T (p.Asp143Tyr) c.448G>T (p.Asp150Tyr) c.256G>T (p.Asp86Tyr) c.460G>T (p.Asp154Tyr) c.328G>T c.51G>T (p.Trp17Cys) c.463G>T (p.Asp155Tyr) c.283+2052G>T (n.283+2052G>T) c.173+3297G>T (n.173+3297G>T) c.239G>T c.450G>T (p.Trp150Cys) n.1154G>T | |
16 | g.31091260C= | CA2216889156 | VKORC1 | c.366G= (p.Trp122=) c.427G= (p.Asp143=) c.448G= (p.Asp150=) c.256G= (p.Asp86=) c.460G= (p.Asp154=) c.328G= c.51G= (p.Trp17=) c.463G= (p.Asp155=) c.283+2052G= (n.283+2052G=) c.173+3297G= (n.173+3297G=) c.239G= c.450G= (p.Trp150=) n.1154G= | |
16 | g.31091260C>G | CA8021127 | VKORC1 | c.366G>C (p.Trp122Cys) c.427G>C (p.Asp143His) c.448G>C (p.Asp150His) c.256G>C (p.Asp86His) c.460G>C (p.Asp154His) c.328G>C c.51G>C (p.Trp17Cys) c.463G>C (p.Asp155His) c.283+2052G>C (n.283+2052G>C) c.173+3297G>C (n.173+3297G>C) c.239G>C c.450G>C (p.Trp150Cys) n.1154G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.31091260C>T | CA395729727 | VKORC1 | c.366G>A (p.Trp122Ter) c.427G>A (p.Asp143Asn) c.448G>A (p.Asp150Asn) c.256G>A (p.Asp86Asn) c.460G>A (p.Asp154Asn) c.328G>A c.51G>A (p.Trp17Ter) c.463G>A (p.Asp155Asn) c.283+2052G>A (n.283+2052G>A) c.173+3297G>A (n.173+3297G>A) c.239G>A c.450G>A (p.Trp150Ter) n.1154G>A | |
16 | g.31091261C>A | CA395729732 | VKORC1 | c.365G>T (p.Trp122Leu) c.426G>T (p.Leu142=) c.447G>T (p.Leu149=) c.255G>T (p.Leu85=) c.459G>T (p.Leu153=) c.327G>T c.50G>T (p.Trp17Leu) c.462G>T (p.Leu154=) c.283+2051G>T (n.283+2051G>T) c.173+3296G>T (n.173+3296G>T) c.238G>T c.449G>T (p.Trp150Leu) n.1153G>T | |
16 | g.31091261C>G | CA395729729 | VKORC1 | c.365G>C (p.Trp122Ser) c.426G>C (p.Leu142=) c.447G>C (p.Leu149=) c.255G>C (p.Leu85=) c.459G>C (p.Leu153=) c.327G>C c.50G>C (p.Trp17Ser) c.462G>C (p.Leu154=) c.283+2051G>C (n.283+2051G>C) c.173+3296G>C (n.173+3296G>C) c.238G>C c.449G>C (p.Trp150Ser) n.1153G>C | |
16 | g.31091261C>T | CA395729731 | VKORC1 | c.365G>A (p.Trp122Ter) c.426G>A (p.Leu142=) c.447G>A (p.Leu149=) c.255G>A (p.Leu85=) c.459G>A (p.Leu153=) c.327G>A c.50G>A (p.Trp17Ter) c.462G>A (p.Leu154=) c.283+2051G>A (n.283+2051G>A) c.173+3296G>A (n.173+3296G>A) c.238G>A c.449G>A (p.Trp150Ter) n.1153G>A | |
16 | g.31091262A>C | CA395729733 | VKORC1 | c.364T>G (p.Trp122Gly) c.425T>G (p.Leu142Arg) c.446T>G (p.Leu149Arg) c.254T>G (p.Leu85Arg) c.458T>G (p.Leu153Arg) c.326T>G c.49T>G (p.Trp17Gly) c.461T>G (p.Leu154Arg) c.283+2050T>G (n.283+2050T>G) c.173+3295T>G (n.173+3295T>G) c.237T>G c.448T>G (p.Trp150Gly) n.1152T>G | |
16 | g.31091262A>G | CA395729734 | VKORC1 | c.364T>C (p.Trp122Arg) c.425T>C (p.Leu142Pro) c.446T>C (p.Leu149Pro) c.254T>C (p.Leu85Pro) c.458T>C (p.Leu153Pro) c.326T>C c.49T>C (p.Trp17Arg) c.461T>C (p.Leu154Pro) c.283+2050T>C (n.283+2050T>C) c.173+3295T>C (n.173+3295T>C) c.237T>C c.448T>C (p.Trp150Arg) n.1152T>C | |
16 | g.31091262A>T | CA395729735 | VKORC1 | c.364T>A (p.Trp122Arg) c.425T>A (p.Leu142Gln) c.446T>A (p.Leu149Gln) c.254T>A (p.Leu85Gln) c.458T>A (p.Leu153Gln) c.326T>A c.49T>A (p.Trp17Arg) c.461T>A (p.Leu154Gln) c.283+2050T>A (n.283+2050T>A) c.173+3295T>A (n.173+3295T>A) c.237T>A c.448T>A (p.Trp150Arg) n.1152T>A | |
16 | g.31091263G>A | CA494925969 | VKORC1 | c.363C>T (p.Ala121=) c.424C>T (p.Leu142=) c.445C>T (p.Leu149=) c.253C>T (p.Leu85=) c.457C>T (p.Leu153=) c.325C>T c.48C>T (p.Ala16=) c.460C>T (p.Leu154=) c.283+2049C>T (n.283+2049C>T) c.173+3294C>T (n.173+3294C>T) c.236C>T c.447C>T (p.Ala149=) n.1151C>T | gnomAD v4 |
16 | g.31091263G>C | CA395729737 | VKORC1 | c.363C>G (p.Ala121=) c.424C>G (p.Leu142Val) c.445C>G (p.Leu149Val) c.253C>G (p.Leu85Val) c.457C>G (p.Leu153Val) c.325C>G c.48C>G (p.Ala16=) c.460C>G (p.Leu154Val) c.283+2049C>G (n.283+2049C>G) c.173+3294C>G (n.173+3294C>G) c.236C>G c.447C>G (p.Ala149=) n.1151C>G | |
16 | g.31091263G>T | CA395729739 | VKORC1 | c.363C>A (p.Ala121=) c.424C>A (p.Leu142Met) c.445C>A (p.Leu149Met) c.253C>A (p.Leu85Met) c.457C>A (p.Leu153Met) c.325C>A c.48C>A (p.Ala16=) c.460C>A (p.Leu154Met) c.283+2049C>A (n.283+2049C>A) c.173+3294C>A (n.173+3294C>A) c.236C>A c.447C>A (p.Ala149=) n.1151C>A | |
16 | g.31091264G>A | CA395729740 | VKORC1 | c.362C>T (p.Ala121Val) c.423C>T (p.Gly141=) c.444C>T (p.Gly148=) c.252C>T (p.Gly84=) c.456C>T (p.Gly152=) c.324C>T c.47C>T (p.Ala16Val) c.459C>T (p.Gly153=) c.283+2048C>T (n.283+2048C>T) c.173+3293C>T (n.173+3293C>T) c.235C>T c.446C>T (p.Ala149Val) n.1150C>T | |
16 | g.31091264G>C | CA395729743 | VKORC1 | c.362C>G (p.Ala121Gly) c.423C>G (p.Gly141=) c.444C>G (p.Gly148=) c.252C>G (p.Gly84=) c.456C>G (p.Gly152=) c.324C>G c.47C>G (p.Ala16Gly) c.459C>G (p.Gly153=) c.283+2048C>G (n.283+2048C>G) c.173+3293C>G (n.173+3293C>G) c.235C>G c.446C>G (p.Ala149Gly) n.1150C>G | |
16 | g.31091264G>T | CA395729742 | VKORC1 | c.362C>A (p.Ala121Asp) c.423C>A (p.Gly141=) c.444C>A (p.Gly148=) c.252C>A (p.Gly84=) c.456C>A (p.Gly152=) c.324C>A c.47C>A (p.Ala16Asp) c.459C>A (p.Gly153=) c.283+2048C>A (n.283+2048C>A) c.173+3293C>A (n.173+3293C>A) c.235C>A c.446C>A (p.Ala149Asp) n.1150C>A | |
16 | g.31091265C>A | CA395729744 | VKORC1 | c.361G>T (p.Ala121Ser) c.422G>T (p.Gly141Val) c.443G>T (p.Gly148Val) c.251G>T (p.Gly84Val) c.455G>T (p.Gly152Val) c.323G>T c.46G>T (p.Ala16Ser) c.458G>T (p.Gly153Val) c.283+2047G>T (n.283+2047G>T) c.173+3292G>T (n.173+3292G>T) c.234G>T c.445G>T (p.Ala149Ser) n.1149G>T | |
16 | g.31091265C>G | CA395729746 | VKORC1 | c.361G>C (p.Ala121Pro) c.422G>C (p.Gly141Ala) c.443G>C (p.Gly148Ala) c.251G>C (p.Gly84Ala) c.455G>C (p.Gly152Ala) c.323G>C c.46G>C (p.Ala16Pro) c.458G>C (p.Gly153Ala) c.283+2047G>C (n.283+2047G>C) c.173+3292G>C (n.173+3292G>C) c.234G>C c.445G>C (p.Ala149Pro) n.1149G>C | |
16 | g.31091265C>T | CA395729747 | VKORC1 | c.361G>A (p.Ala121Thr) c.422G>A (p.Gly141Asp) c.443G>A (p.Gly148Asp) c.251G>A (p.Gly84Asp) c.455G>A (p.Gly152Asp) c.323G>A c.46G>A (p.Ala16Thr) c.458G>A (p.Gly153Asp) c.283+2047G>A (n.283+2047G>A) c.173+3292G>A (n.173+3292G>A) c.234G>A c.445G>A (p.Ala149Thr) n.1149G>A | |
16 | g.31091266C>A | CA395729749 | VKORC1 | c.360G>T (p.Leu120=) c.421G>T (p.Gly141Cys) c.442G>T (p.Gly148Cys) c.250G>T (p.Gly84Cys) c.454G>T (p.Gly152Cys) c.322G>T c.45G>T (p.Leu15=) c.457G>T (p.Gly153Cys) c.283+2046G>T (n.283+2046G>T) c.173+3291G>T (n.173+3291G>T) c.233G>T c.444G>T (p.Leu148=) n.1148G>T | |
16 | g.31091266C>G | CA395729751 | VKORC1 | c.360G>C (p.Leu120=) c.421G>C (p.Gly141Arg) c.442G>C (p.Gly148Arg) c.250G>C (p.Gly84Arg) c.454G>C (p.Gly152Arg) c.322G>C c.45G>C (p.Leu15=) c.457G>C (p.Gly153Arg) c.283+2046G>C (n.283+2046G>C) c.173+3291G>C (n.173+3291G>C) c.233G>C c.444G>C (p.Leu148=) n.1148G>C | |
16 | g.31091266C>T | CA395729753 | VKORC1 | c.360G>A (p.Leu120=) c.421G>A (p.Gly141Ser) c.442G>A (p.Gly148Ser) c.250G>A (p.Gly84Ser) c.454G>A (p.Gly152Ser) c.322G>A c.45G>A (p.Leu15=) c.457G>A (p.Gly153Ser) c.283+2046G>A (n.283+2046G>A) c.173+3291G>A (n.173+3291G>A) c.233G>A c.444G>A (p.Leu148=) n.1148G>A | |
16 | g.31091267A>C | CA395729755 | VKORC1 | c.359T>G (p.Leu120Arg) c.420T>G (p.Pro140=) c.441T>G (p.Pro147=) c.249T>G (p.Pro83=) c.453T>G (p.Pro151=) c.321T>G c.44T>G (p.Leu15Arg) c.456T>G (p.Pro152=) c.283+2045T>G (n.283+2045T>G) c.173+3290T>G (n.173+3290T>G) c.232T>G c.443T>G (p.Leu148Arg) n.1147T>G | |
16 | g.31091267A>G | CA395729757 | VKORC1 | c.359T>C (p.Leu120Pro) c.420T>C (p.Pro140=) c.441T>C (p.Pro147=) c.249T>C (p.Pro83=) c.453T>C (p.Pro151=) c.321T>C c.44T>C (p.Leu15Pro) c.456T>C (p.Pro152=) c.283+2045T>C (n.283+2045T>C) c.173+3290T>C (n.173+3290T>C) c.232T>C c.443T>C (p.Leu148Pro) n.1147T>C | |
16 | g.31091267A>T | CA395729759 | VKORC1 | c.359T>A (p.Leu120Gln) c.420T>A (p.Pro140=) c.441T>A (p.Pro147=) c.249T>A (p.Pro83=) c.453T>A (p.Pro151=) c.321T>A c.44T>A (p.Leu15Gln) c.456T>A (p.Pro152=) c.283+2045T>A (n.283+2045T>A) c.173+3290T>A (n.173+3290T>A) c.232T>A c.443T>A (p.Leu148Gln) n.1147T>A | |
16 | g.31091268G>A | CA8021128 | VKORC1 | c.358C>T (p.Leu120=) c.419C>T (p.Pro140Leu) c.440C>T (p.Pro147Leu) c.248C>T (p.Pro83Leu) c.452C>T (p.Pro151Leu) c.320C>T c.43C>T (p.Leu15=) c.455C>T (p.Pro152Leu) c.283+2044C>T (n.283+2044C>T) c.173+3289C>T (n.173+3289C>T) c.231C>T c.442C>T (p.Leu148=) n.1146C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.31091268G>C | CA395729761 | VKORC1 | c.358C>G (p.Leu120Val) c.419C>G (p.Pro140Arg) c.440C>G (p.Pro147Arg) c.248C>G (p.Pro83Arg) c.452C>G (p.Pro151Arg) c.320C>G c.43C>G (p.Leu15Val) c.455C>G (p.Pro152Arg) c.283+2044C>G (n.283+2044C>G) c.173+3289C>G (n.173+3289C>G) c.231C>G c.442C>G (p.Leu148Val) n.1146C>G | |
16 | g.31091268G= | CA2216889164 | VKORC1 | c.358C= (p.Leu120=) c.419C= (p.Pro140=) c.440C= (p.Pro147=) c.248C= (p.Pro83=) c.452C= (p.Pro151=) c.320C= c.43C= (p.Leu15=) c.455C= (p.Pro152=) c.283+2044C= (n.283+2044C=) c.173+3289C= (n.173+3289C=) c.231C= c.442C= (p.Leu148=) n.1146C= | |
16 | g.31091268G>T | CA395729762 | VKORC1 | c.358C>A (p.Leu120Met) c.419C>A (p.Pro140His) c.440C>A (p.Pro147His) c.248C>A (p.Pro83His) c.452C>A (p.Pro151His) c.320C>A c.43C>A (p.Leu15Met) c.455C>A (p.Pro152His) c.283+2044C>A (n.283+2044C>A) c.173+3289C>A (n.173+3289C>A) c.231C>A c.442C>A (p.Leu148Met) n.1146C>A | |
16 | g.31091269G>A | CA395729766 | VKORC1 | c.357C>T (p.Tyr119=) c.418C>T (p.Pro140Ser) c.439C>T (p.Pro147Ser) c.247C>T (p.Pro83Ser) c.451C>T (p.Pro151Ser) c.319C>T c.42C>T (p.Tyr14=) c.454C>T (p.Pro152Ser) c.283+2043C>T (n.283+2043C>T) c.173+3288C>T (n.173+3288C>T) c.230C>T c.441C>T (p.Tyr147=) n.1145C>T | dbSNP gnomAD v4 |
16 | g.31091269G>C | CA395729764 | VKORC1 | c.357C>G (p.Tyr119Ter) c.418C>G (p.Pro140Ala) c.439C>G (p.Pro147Ala) c.247C>G (p.Pro83Ala) c.451C>G (p.Pro151Ala) c.319C>G c.42C>G (p.Tyr14Ter) c.454C>G (p.Pro152Ala) c.283+2043C>G (n.283+2043C>G) c.173+3288C>G (n.173+3288C>G) c.230C>G c.441C>G (p.Tyr147Ter) n.1145C>G | |
16 | g.31091269G= | CA2216889168 | VKORC1 | c.357C= (p.Tyr119=) c.418C= (p.Pro140=) c.439C= (p.Pro147=) c.247C= (p.Pro83=) c.451C= (p.Pro151=) c.319C= c.42C= (p.Tyr14=) c.454C= (p.Pro152=) c.283+2043C= (n.283+2043C=) c.173+3288C= (n.173+3288C=) c.230C= c.441C= (p.Tyr147=) n.1145C= | |
16 | g.31091269G>T | CA395729765 | VKORC1 | c.357C>A (p.Tyr119Ter) c.418C>A (p.Pro140Thr) c.439C>A (p.Pro147Thr) c.247C>A (p.Pro83Thr) c.451C>A (p.Pro151Thr) c.319C>A c.42C>A (p.Tyr14Ter) c.454C>A (p.Pro152Thr) c.283+2043C>A (n.283+2043C>A) c.173+3288C>A (n.173+3288C>A) c.230C>A c.441C>A (p.Tyr147Ter) n.1145C>A | |
16 | g.31091270T>A | CA395729768 | VKORC1 | c.356A>T (p.Tyr119Phe) c.417A>T (p.Leu139=) c.438A>T (p.Leu146=) c.246A>T (p.Leu82=) c.450A>T (p.Leu150=) c.318A>T c.41A>T (p.Tyr14Phe) c.453A>T (p.Leu151=) c.283+2042A>T (n.283+2042A>T) c.173+3287A>T (n.173+3287A>T) c.229A>T c.440A>T (p.Tyr147Phe) n.1144A>T | |
16 | g.31091270T>C | CA395729770 | VKORC1 | c.356A>G (p.Tyr119Cys) c.417A>G (p.Leu139=) c.438A>G (p.Leu146=) c.246A>G (p.Leu82=) c.450A>G (p.Leu150=) c.318A>G c.41A>G (p.Tyr14Cys) c.453A>G (p.Leu151=) c.283+2042A>G (n.283+2042A>G) c.173+3287A>G (n.173+3287A>G) c.229A>G c.440A>G (p.Tyr147Cys) n.1144A>G | |
16 | g.31091270T>G | CA395729772 | VKORC1 | c.356A>C (p.Tyr119Ser) c.417A>C (p.Leu139=) c.438A>C (p.Leu146=) c.246A>C (p.Leu82=) c.450A>C (p.Leu150=) c.318A>C c.41A>C (p.Tyr14Ser) c.453A>C (p.Leu151=) c.283+2042A>C (n.283+2042A>C) c.173+3287A>C (n.173+3287A>C) c.229A>C c.440A>C (p.Tyr147Ser) n.1144A>C | |
16 | g.31091271A= | CA2216889171 | VKORC1 | c.355T= (p.Tyr119=) c.416T= (p.Leu139=) c.437T= (p.Leu146=) c.245T= (p.Leu82=) c.449T= (p.Leu150=) c.317T= c.40T= (p.Tyr14=) c.452T= (p.Leu151=) c.283+2041T= (n.283+2041T=) c.173+3286T= (n.173+3286T=) c.228T= c.439T= (p.Tyr147=) n.1143T= | |
16 | g.31091271A>C | CA395729774 | VKORC1 | c.355T>G (p.Tyr119Asp) c.416T>G (p.Leu139Arg) c.437T>G (p.Leu146Arg) c.245T>G (p.Leu82Arg) c.449T>G (p.Leu150Arg) c.317T>G c.40T>G (p.Tyr14Asp) c.452T>G (p.Leu151Arg) c.283+2041T>G (n.283+2041T>G) c.173+3286T>G (n.173+3286T>G) c.228T>G c.439T>G (p.Tyr147Asp) n.1143T>G | |
16 | g.31091271A>G | CA395729775 | VKORC1 | c.355T>C (p.Tyr119His) c.416T>C (p.Leu139Pro) c.437T>C (p.Leu146Pro) c.245T>C (p.Leu82Pro) c.449T>C (p.Leu150Pro) c.317T>C c.40T>C (p.Tyr14His) c.452T>C (p.Leu151Pro) c.283+2041T>C (n.283+2041T>C) c.173+3286T>C (n.173+3286T>C) c.228T>C c.439T>C (p.Tyr147His) n.1143T>C | |
16 | g.31091271A>T | CA8021129 | VKORC1 | c.355T>A (p.Tyr119Asn) c.416T>A (p.Leu139Gln) c.437T>A (p.Leu146Gln) c.245T>A (p.Leu82Gln) c.449T>A (p.Leu150Gln) c.317T>A c.40T>A (p.Tyr14Asn) c.452T>A (p.Leu151Gln) c.283+2041T>A (n.283+2041T>A) c.173+3286T>A (n.173+3286T>A) c.228T>A c.439T>A (p.Tyr147Asn) n.1143T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.31091272G>A | CA494925976 | VKORC1 | c.354C>T (p.Val118=) c.415C>T (p.Leu139=) c.436C>T (p.Leu146=) c.244C>T (p.Leu82=) c.448C>T (p.Leu150=) c.316C>T c.39C>T (p.Val13=) c.451C>T (p.Leu151=) c.283+2040C>T (n.283+2040C>T) c.173+3285C>T (n.173+3285C>T) c.227C>T c.438C>T (p.Val146=) n.1142C>T | |
16 | g.31091272G>C | CA395729779 | VKORC1 | c.354C>G (p.Val118=) c.415C>G (p.Leu139Val) c.436C>G (p.Leu146Val) c.244C>G (p.Leu82Val) c.448C>G (p.Leu150Val) c.316C>G c.39C>G (p.Val13=) c.451C>G (p.Leu151Val) c.283+2040C>G (n.283+2040C>G) c.173+3285C>G (n.173+3285C>G) c.227C>G c.438C>G (p.Val146=) n.1142C>G | dbSNP |
16 | g.31091272G= | CA2216889176 | VKORC1 | c.354C= (p.Val118=) c.415C= (p.Leu139=) c.436C= (p.Leu146=) c.244C= (p.Leu82=) c.448C= (p.Leu150=) c.316C= c.39C= (p.Val13=) c.451C= (p.Leu151=) c.283+2040C= (n.283+2040C=) c.173+3285C= (n.173+3285C=) c.227C= c.438C= (p.Val146=) n.1142C= | |
16 | g.31091272G>T | CA395729777 | VKORC1 | c.354C>A (p.Val118=) c.415C>A (p.Leu139Ile) c.436C>A (p.Leu146Ile) c.244C>A (p.Leu82Ile) c.448C>A (p.Leu150Ile) c.316C>A c.39C>A (p.Val13=) c.451C>A (p.Leu151Ile) c.283+2040C>A (n.283+2040C>A) c.173+3285C>A (n.173+3285C>A) c.227C>A c.438C>A (p.Val146=) n.1142C>A | |
16 | g.31091273A>C | CA395729781 | VKORC1 | c.353T>G (p.Val118Gly) c.414T>G (p.Cys138Trp) c.435T>G (p.Cys145Trp) c.243T>G (p.Cys81Trp) c.447T>G (p.Cys149Trp) c.315T>G c.38T>G (p.Val13Gly) c.450T>G (p.Cys150Trp) c.283+2039T>G (n.283+2039T>G) c.173+3284T>G (n.173+3284T>G) c.226T>G c.437T>G (p.Val146Gly) n.1141T>G | |
16 | g.31091273A>G | CA395729782 | VKORC1 | c.353T>C (p.Val118Ala) c.414T>C (p.Cys138=) c.435T>C (p.Cys145=) c.243T>C (p.Cys81=) c.447T>C (p.Cys149=) c.315T>C c.38T>C (p.Val13Ala) c.450T>C (p.Cys150=) c.283+2039T>C (n.283+2039T>C) c.173+3284T>C (n.173+3284T>C) c.226T>C c.437T>C (p.Val146Ala) n.1141T>C | gnomAD v4 |
16 | g.31091273A>T | CA395729784 | VKORC1 | c.353T>A (p.Val118Asp) c.414T>A (p.Cys138Ter) c.435T>A (p.Cys145Ter) c.243T>A (p.Cys81Ter) c.447T>A (p.Cys149Ter) c.315T>A c.38T>A (p.Val13Asp) c.450T>A (p.Cys150Ter) c.283+2039T>A (n.283+2039T>A) c.173+3284T>A (n.173+3284T>A) c.226T>A c.437T>A (p.Val146Asp) n.1141T>A | |
16 | g.31091274C>A | CA395729786 | VKORC1 | c.352G>T (p.Val118Phe) c.413G>T (p.Cys138Phe) c.434G>T (p.Cys145Phe) c.242G>T (p.Cys81Phe) c.446G>T (p.Cys149Phe) c.314G>T c.37G>T (p.Val13Phe) c.449G>T (p.Cys150Phe) c.283+2038G>T (n.283+2038G>T) c.173+3283G>T (n.173+3283G>T) c.225G>T c.436G>T (p.Val146Phe) n.1140G>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.31091274C= | CA2216889180 | VKORC1 | c.352G= (p.Val118=) c.413G= (p.Cys138=) c.434G= (p.Cys145=) c.242G= (p.Cys81=) c.446G= (p.Cys149=) c.314G= c.37G= (p.Val13=) c.449G= (p.Cys150=) c.283+2038G= (n.283+2038G=) c.173+3283G= (n.173+3283G=) c.225G= c.436G= (p.Val146=) n.1140G= | |
16 | g.31091274C>G | CA8021130 | VKORC1 | c.352G>C (p.Val118Leu) c.413G>C (p.Cys138Ser) c.434G>C (p.Cys145Ser) c.242G>C (p.Cys81Ser) c.446G>C (p.Cys149Ser) c.314G>C c.37G>C (p.Val13Leu) c.449G>C (p.Cys150Ser) c.283+2038G>C (n.283+2038G>C) c.173+3283G>C (n.173+3283G>C) c.225G>C c.436G>C (p.Val146Leu) n.1140G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.31091274C>T | CA280619957 | VKORC1 | c.352G>A (p.Val118Ile) c.413G>A (p.Cys138Tyr) c.434G>A (p.Cys145Tyr) c.242G>A (p.Cys81Tyr) c.446G>A (p.Cys149Tyr) c.314G>A c.37G>A (p.Val13Ile) c.449G>A (p.Cys150Tyr) c.283+2038G>A (n.283+2038G>A) c.173+3283G>A (n.173+3283G>A) c.225G>A c.436G>A (p.Val146Ile) n.1140G>A | dbSNP gnomAD v4 |
16 | g.31091275A>C | CA395729794 | VKORC1 | c.351T>G (p.Ser117=) c.412T>G (p.Cys138Gly) c.433T>G (p.Cys145Gly) c.241T>G (p.Cys81Gly) c.445T>G (p.Cys149Gly) c.313T>G c.36T>G (p.Ser12=) c.448T>G (p.Cys150Gly) c.283+2037T>G (n.283+2037T>G) c.173+3282T>G (n.173+3282T>G) c.224T>G c.435T>G (p.Ser145=) n.1139T>G | |
16 | g.31091275A>G | CA395729789 | VKORC1 | c.351T>C (p.Ser117=) c.412T>C (p.Cys138Arg) c.433T>C (p.Cys145Arg) c.241T>C (p.Cys81Arg) c.445T>C (p.Cys149Arg) c.313T>C c.36T>C (p.Ser12=) c.448T>C (p.Cys150Arg) c.283+2037T>C (n.283+2037T>C) c.173+3282T>C (n.173+3282T>C) c.224T>C c.435T>C (p.Ser145=) n.1139T>C | |
16 | g.31091275A>T | CA395729791 | VKORC1 | c.351T>A (p.Ser117=) c.412T>A (p.Cys138Ser) c.433T>A (p.Cys145Ser) c.241T>A (p.Cys81Ser) c.445T>A (p.Cys149Ser) c.313T>A c.36T>A (p.Ser12=) c.448T>A (p.Cys150Ser) c.283+2037T>A (n.283+2037T>A) c.173+3282T>A (n.173+3282T>A) c.224T>A c.435T>A (p.Ser145=) n.1139T>A | |
16 | g.31091276G>A | CA395729795 | VKORC1 | c.350C>T (p.Ser117Phe) c.411C>T (p.Phe137=) c.432C>T (p.Phe144=) c.240C>T (p.Phe80=) c.444C>T (p.Phe148=) c.312C>T c.35C>T (p.Ser12Phe) c.447C>T (p.Phe149=) c.283+2036C>T (n.283+2036C>T) c.173+3281C>T (n.173+3281C>T) c.223C>T c.434C>T (p.Ser145Phe) n.1138C>T | |
16 | g.31091276G>C | CA395729796 | VKORC1 | c.350C>G (p.Ser117Cys) c.411C>G (p.Phe137Leu) c.432C>G (p.Phe144Leu) c.240C>G (p.Phe80Leu) c.444C>G (p.Phe148Leu) c.312C>G c.35C>G (p.Ser12Cys) c.447C>G (p.Phe149Leu) c.283+2036C>G (n.283+2036C>G) c.173+3281C>G (n.173+3281C>G) c.223C>G c.434C>G (p.Ser145Cys) n.1138C>G | |
16 | g.31091276G>T | CA395729798 | VKORC1 | c.350C>A (p.Ser117Tyr) c.411C>A (p.Phe137Leu) c.432C>A (p.Phe144Leu) c.240C>A (p.Phe80Leu) c.444C>A (p.Phe148Leu) c.312C>A c.35C>A (p.Ser12Tyr) c.447C>A (p.Phe149Leu) c.283+2036C>A (n.283+2036C>A) c.173+3281C>A (n.173+3281C>A) c.223C>A c.434C>A (p.Ser145Tyr) n.1138C>A | |
16 | g.31091277A>C | CA395729800 | VKORC1 | c.349T>G (p.Ser117Ala) c.410T>G (p.Phe137Cys) c.431T>G (p.Phe144Cys) c.239T>G (p.Phe80Cys) c.443T>G (p.Phe148Cys) c.311T>G c.34T>G (p.Ser12Ala) c.446T>G (p.Phe149Cys) c.283+2035T>G (n.283+2035T>G) c.173+3280T>G (n.173+3280T>G) c.222T>G c.433T>G (p.Ser145Ala) n.1137T>G | |
16 | g.31091277A>G | CA395729802 | VKORC1 | c.349T>C (p.Ser117Pro) c.410T>C (p.Phe137Ser) c.431T>C (p.Phe144Ser) c.239T>C (p.Phe80Ser) c.443T>C (p.Phe148Ser) c.311T>C c.34T>C (p.Ser12Pro) c.446T>C (p.Phe149Ser) c.283+2035T>C (n.283+2035T>C) c.173+3280T>C (n.173+3280T>C) c.222T>C c.433T>C (p.Ser145Pro) n.1137T>C | |
16 | g.31091277A>T | CA395729804 | VKORC1 | c.349T>A (p.Ser117Thr) c.410T>A (p.Phe137Tyr) c.431T>A (p.Phe144Tyr) c.239T>A (p.Phe80Tyr) c.443T>A (p.Phe148Tyr) c.311T>A c.34T>A (p.Ser12Thr) c.446T>A (p.Phe149Tyr) c.283+2035T>A (n.283+2035T>A) c.173+3280T>A (n.173+3280T>A) c.222T>A c.433T>A (p.Ser145Thr) n.1137T>A | |
16 | g.31091278A>C | CA395729806 | VKORC1 | c.348T>G (p.Gly116=) c.409T>G (p.Phe137Val) c.430T>G (p.Phe144Val) c.238T>G (p.Phe80Val) c.442T>G (p.Phe148Val) c.310T>G c.33T>G (p.Gly11=) c.445T>G (p.Phe149Val) c.283+2034T>G (n.283+2034T>G) c.173+3279T>G (n.173+3279T>G) c.221T>G c.432T>G (p.Gly144=) n.1136T>G | gnomAD v4 |
16 | g.31091278A>G | CA395729807 | VKORC1 | c.348T>C (p.Gly116=) c.409T>C (p.Phe137Leu) c.430T>C (p.Phe144Leu) c.238T>C (p.Phe80Leu) c.442T>C (p.Phe148Leu) c.310T>C c.33T>C (p.Gly11=) c.445T>C (p.Phe149Leu) c.283+2034T>C (n.283+2034T>C) c.173+3279T>C (n.173+3279T>C) c.221T>C c.432T>C (p.Gly144=) n.1136T>C | |
16 | g.31091278A>T | CA395729809 | VKORC1 | c.348T>A (p.Gly116=) c.409T>A (p.Phe137Ile) c.430T>A (p.Phe144Ile) c.238T>A (p.Phe80Ile) c.442T>A (p.Phe148Ile) c.310T>A c.33T>A (p.Gly11=) c.445T>A (p.Phe149Ile) c.283+2034T>A (n.283+2034T>A) c.173+3279T>A (n.173+3279T>A) c.221T>A c.432T>A (p.Gly144=) n.1136T>A | |
16 | g.31091279C>A | CA395729812 | VKORC1 | c.347G>T (p.Gly116Val) c.408G>T (p.Trp136Cys) c.429G>T (p.Trp143Cys) c.237G>T (p.Trp79Cys) c.441G>T (p.Trp147Cys) c.309G>T c.32G>T (p.Gly11Val) c.444G>T (p.Trp148Cys) c.283+2033G>T (n.283+2033G>T) c.173+3278G>T (n.173+3278G>T) c.220G>T c.431G>T (p.Gly144Val) n.1135G>T | |
16 | g.31091279C>G | CA395729813 | VKORC1 | c.347G>C (p.Gly116Ala) c.408G>C (p.Trp136Cys) c.429G>C (p.Trp143Cys) c.237G>C (p.Trp79Cys) c.441G>C (p.Trp147Cys) c.309G>C c.32G>C (p.Gly11Ala) c.444G>C (p.Trp148Cys) c.283+2033G>C (n.283+2033G>C) c.173+3278G>C (n.173+3278G>C) c.220G>C c.431G>C (p.Gly144Ala) n.1135G>C | |
16 | g.31091279C>T | CA395729814 | VKORC1 | c.347G>A (p.Gly116Asp) c.408G>A (p.Trp136Ter) c.429G>A (p.Trp143Ter) c.237G>A (p.Trp79Ter) c.441G>A (p.Trp147Ter) c.309G>A c.32G>A (p.Gly11Asp) c.444G>A (p.Trp148Ter) c.283+2033G>A (n.283+2033G>A) c.173+3278G>A (n.173+3278G>A) c.220G>A c.431G>A (p.Gly144Asp) n.1135G>A | |
16 | g.31091280C>A | CA395729816 | VKORC1 | c.346G>T (p.Gly116Cys) c.407G>T (p.Trp136Leu) c.428G>T (p.Trp143Leu) c.236G>T (p.Trp79Leu) c.440G>T (p.Trp147Leu) c.308G>T c.31G>T (p.Gly11Cys) c.443G>T (p.Trp148Leu) c.283+2032G>T (n.283+2032G>T) c.173+3277G>T (n.173+3277G>T) c.219G>T c.430G>T (p.Gly144Cys) n.1134G>T | |
16 | g.31091280C>G | CA395729820 | VKORC1 | c.346G>C (p.Gly116Arg) c.407G>C (p.Trp136Ser) c.428G>C (p.Trp143Ser) c.236G>C (p.Trp79Ser) c.440G>C (p.Trp147Ser) c.308G>C c.31G>C (p.Gly11Arg) c.443G>C (p.Trp148Ser) c.283+2032G>C (n.283+2032G>C) c.173+3277G>C (n.173+3277G>C) c.219G>C c.430G>C (p.Gly144Arg) n.1134G>C | |
16 | g.31091280C>T | CA395729818 | VKORC1 | c.346G>A (p.Gly116Ser) c.407G>A (p.Trp136Ter) c.428G>A (p.Trp143Ter) c.236G>A (p.Trp79Ter) c.440G>A (p.Trp147Ter) c.308G>A c.31G>A (p.Gly11Ser) c.443G>A (p.Trp148Ter) c.283+2032G>A (n.283+2032G>A) c.173+3277G>A (n.173+3277G>A) c.219G>A c.430G>A (p.Gly144Ser) n.1134G>A | gnomAD v4 |
16 | g.31091281A= | CA2216889191 | VKORC1 | c.345T= (p.Ala115=) c.406T= (p.Trp136=) c.427T= (p.Trp143=) c.235T= (p.Trp79=) c.439T= (p.Trp147=) c.307T= c.30T= (p.Ala10=) c.442T= (p.Trp148=) c.283+2031T= (n.283+2031T=) c.173+3276T= (n.173+3276T=) c.218T= c.429T= (p.Ala143=) n.1133T= | |
16 | g.31091281A>C | CA395729821 | VKORC1 | c.345T>G (p.Ala115=) c.406T>G (p.Trp136Gly) c.427T>G (p.Trp143Gly) c.235T>G (p.Trp79Gly) c.439T>G (p.Trp147Gly) c.307T>G c.30T>G (p.Ala10=) c.442T>G (p.Trp148Gly) c.283+2031T>G (n.283+2031T>G) c.173+3276T>G (n.173+3276T>G) c.218T>G c.429T>G (p.Ala143=) n.1133T>G | |
16 | g.31091281A>G | CA395729822 | VKORC1 | c.345T>C (p.Ala115=) c.406T>C (p.Trp136Arg) c.427T>C (p.Trp143Arg) c.235T>C (p.Trp79Arg) c.439T>C (p.Trp147Arg) c.307T>C c.30T>C (p.Ala10=) c.442T>C (p.Trp148Arg) c.283+2031T>C (n.283+2031T>C) c.173+3276T>C (n.173+3276T>C) c.218T>C c.429T>C (p.Ala143=) n.1133T>C | dbSNP gnomAD v2 |
16 | g.31091281A>T | CA395729824 | VKORC1 | c.345T>A (p.Ala115=) c.406T>A (p.Trp136Arg) c.427T>A (p.Trp143Arg) c.235T>A (p.Trp79Arg) c.439T>A (p.Trp147Arg) c.307T>A c.30T>A (p.Ala10=) c.442T>A (p.Trp148Arg) c.283+2031T>A (n.283+2031T>A) c.173+3276T>A (n.173+3276T>A) c.218T>A c.429T>A (p.Ala143=) n.1133T>A | |
16 | g.31091282G>A | CA8021131 | VKORC1 | c.344C>T (p.Ala115Val) c.405C>T (p.Arg135=) c.426C>T (p.Arg142=) c.234C>T (p.Arg78=) c.438C>T (p.Arg146=) c.306C>T c.29C>T (p.Ala10Val) c.441C>T (p.Arg147=) c.283+2030C>T (n.283+2030C>T) c.173+3275C>T (n.173+3275C>T) c.217C>T c.428C>T (p.Ala143Val) n.1132C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.31091282G>C | CA8021132 | VKORC1 | c.344C>G (p.Ala115Gly) c.405C>G (p.Arg135=) c.426C>G (p.Arg142=) c.234C>G (p.Arg78=) c.438C>G (p.Arg146=) c.306C>G c.29C>G (p.Ala10Gly) c.441C>G (p.Arg147=) c.283+2030C>G (n.283+2030C>G) c.173+3275C>G (n.173+3275C>G) c.217C>G c.428C>G (p.Ala143Gly) n.1132C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.31091282G= | CA2216889196 | VKORC1 | c.344C= (p.Ala115=) c.405C= (p.Arg135=) c.426C= (p.Arg142=) c.234C= (p.Arg78=) c.438C= (p.Arg146=) c.306C= c.29C= (p.Ala10=) c.441C= (p.Arg147=) c.283+2030C= (n.283+2030C=) c.173+3275C= (n.173+3275C=) c.217C= c.428C= (p.Ala143=) n.1132C= | |
16 | g.31091282G>T | CA395729827 | VKORC1 | c.344C>A (p.Ala115Asp) c.405C>A (p.Arg135=) c.426C>A (p.Arg142=) c.234C>A (p.Arg78=) c.438C>A (p.Arg146=) c.306C>A c.29C>A (p.Ala10Asp) c.441C>A (p.Arg147=) c.283+2030C>A (n.283+2030C>A) c.173+3275C>A (n.173+3275C>A) c.217C>A c.428C>A (p.Ala143Asp) n.1132C>A | |
16 | g.31091283C>A | CA395729833 | VKORC1 | c.343G>T (p.Ala115Ser) c.404G>T (p.Arg135Leu) c.425G>T (p.Arg142Leu) c.233G>T (p.Arg78Leu) c.437G>T (p.Arg146Leu) c.305G>T c.28G>T (p.Ala10Ser) c.440G>T (p.Arg147Leu) c.283+2029G>T (n.283+2029G>T) c.173+3274G>T (n.173+3274G>T) c.216G>T c.427G>T (p.Ala143Ser) n.1131G>T | |
16 | g.31091283C= | CA2216889203 | VKORC1 | c.343G= (p.Ala115=) c.404G= (p.Arg135=) c.425G= (p.Arg142=) c.233G= (p.Arg78=) c.437G= (p.Arg146=) c.305G= c.28G= (p.Ala10=) c.440G= (p.Arg147=) c.283+2029G= (n.283+2029G=) c.173+3274G= (n.173+3274G=) c.216G= c.427G= (p.Ala143=) n.1131G= | |
16 | g.31091283C>G | CA395729832 | VKORC1 | c.343G>C (p.Ala115Pro) c.404G>C (p.Arg135Pro) c.425G>C (p.Arg142Pro) c.233G>C (p.Arg78Pro) c.437G>C (p.Arg146Pro) c.305G>C c.28G>C (p.Ala10Pro) c.440G>C (p.Arg147Pro) c.283+2029G>C (n.283+2029G>C) c.173+3274G>C (n.173+3274G>C) c.216G>C c.427G>C (p.Ala143Pro) n.1131G>C | |
16 | g.31091283C>T | CA395729830 | VKORC1 | c.343G>A (p.Ala115Thr) c.404G>A (p.Arg135His) c.425G>A (p.Arg142His) c.233G>A (p.Arg78His) c.437G>A (p.Arg146His) c.305G>A c.28G>A (p.Ala10Thr) c.440G>A (p.Arg147His) c.283+2029G>A (n.283+2029G>A) c.173+3274G>A (n.173+3274G>A) c.216G>A c.427G>A (p.Ala143Thr) n.1131G>A | dbSNP gnomAD v4 |
16 | g.31091284G>A | CA395729835 | VKORC1 | c.342C>T (p.Leu114=) c.403C>T (p.Arg135Cys) c.424C>T (p.Arg142Cys) c.232C>T (p.Arg78Cys) c.436C>T (p.Arg146Cys) c.304C>T c.27C>T (p.Leu9=) c.439C>T (p.Arg147Cys) c.283+2028C>T (n.283+2028C>T) c.173+3273C>T (n.173+3273C>T) c.215C>T c.426C>T (p.Leu142=) n.1130C>T | dbSNP gnomAD v4 |
16 | g.31091284G>C | CA395729837 | VKORC1 | c.342C>G (p.Leu114=) c.403C>G (p.Arg135Gly) c.424C>G (p.Arg142Gly) c.232C>G (p.Arg78Gly) c.436C>G (p.Arg146Gly) c.304C>G c.27C>G (p.Leu9=) c.439C>G (p.Arg147Gly) c.283+2028C>G (n.283+2028C>G) c.173+3273C>G (n.173+3273C>G) c.215C>G c.426C>G (p.Leu142=) n.1130C>G | ClinVar dbSNP |
16 | g.31091284G= | CA2216889204 | VKORC1 | c.342C= (p.Leu114=) c.403C= (p.Arg135=) c.424C= (p.Arg142=) c.232C= (p.Arg78=) c.436C= (p.Arg146=) c.304C= c.27C= (p.Leu9=) c.439C= (p.Arg147=) c.283+2028C= (n.283+2028C=) c.173+3273C= (n.173+3273C=) c.215C= c.426C= (p.Leu142=) n.1130C= | |
16 | g.31091284G>T | CA395729839 | VKORC1 | c.342C>A (p.Leu114=) c.403C>A (p.Arg135Ser) c.424C>A (p.Arg142Ser) c.232C>A (p.Arg78Ser) c.436C>A (p.Arg146Ser) c.304C>A c.27C>A (p.Leu9=) c.439C>A (p.Arg147Ser) c.283+2028C>A (n.283+2028C>A) c.173+3273C>A (n.173+3273C>A) c.215C>A c.426C>A (p.Leu142=) n.1130C>A | |
16 | g.31091288_31091289del | CA2575974951 | VKORC1 | c.341_342del (p.Leu114ArgfsTer16) c.402_403del (p.Arg135LeufsTer29) c.423_424del (p.Arg142LeufsTer29) c.231_232del (p.Arg78LeufsTer29) c.435_436del (p.Arg146LeufsTer29) c.303_304del c.26_27del (p.Leu9ArgfsTer16) c.438_439del (p.Arg147LeufsTer29) c.283+2027_283+2028del (n.283+2027_283+2028del) c.173+3272_173+3273del (n.173+3272_173+3273del) c.214_215del c.425_426del (p.Leu142ArgfsTer16) n.1129_1130del | |
16 | g.31091285A>C | CA395729841 | VKORC1 | c.341T>G (p.Leu114Arg) c.402T>G (p.Ser134=) c.423T>G (p.Ser141=) c.231T>G (p.Ser77=) c.435T>G (p.Ser145=) c.303T>G c.26T>G (p.Leu9Arg) c.438T>G (p.Ser146=) c.283+2027T>G (n.283+2027T>G) c.173+3272T>G (n.173+3272T>G) c.214T>G c.425T>G (p.Leu142Arg) n.1129T>G | |
16 | g.31091285A>G | CA395729843 | VKORC1 | c.341T>C (p.Leu114Pro) c.402T>C (p.Ser134=) c.423T>C (p.Ser141=) c.231T>C (p.Ser77=) c.435T>C (p.Ser145=) c.303T>C c.26T>C (p.Leu9Pro) c.438T>C (p.Ser146=) c.283+2027T>C (n.283+2027T>C) c.173+3272T>C (n.173+3272T>C) c.214T>C c.425T>C (p.Leu142Pro) n.1129T>C | |
16 | g.31091285A>T | CA395729845 | VKORC1 | c.341T>A (p.Leu114His) c.402T>A (p.Ser134=) c.423T>A (p.Ser141=) c.231T>A (p.Ser77=) c.435T>A (p.Ser145=) c.303T>A c.26T>A (p.Leu9His) c.438T>A (p.Ser146=) c.283+2027T>A (n.283+2027T>A) c.173+3272T>A (n.173+3272T>A) c.214T>A c.425T>A (p.Leu142His) n.1129T>A | |
16 | g.31091286G>A | CA395729846 | VKORC1 | c.340C>T (p.Leu114Phe) c.401C>T (p.Ser134Phe) c.422C>T (p.Ser141Phe) c.230C>T (p.Ser77Phe) c.434C>T (p.Ser145Phe) c.302C>T c.25C>T (p.Leu9Phe) c.437C>T (p.Ser146Phe) c.283+2026C>T (n.283+2026C>T) c.173+3271C>T (n.173+3271C>T) c.213C>T c.424C>T (p.Leu142Phe) n.1128C>T | |
16 | g.31091286G>C | CA395729850 | VKORC1 | c.340C>G (p.Leu114Val) c.401C>G (p.Ser134Cys) c.422C>G (p.Ser141Cys) c.230C>G (p.Ser77Cys) c.434C>G (p.Ser145Cys) c.302C>G c.25C>G (p.Leu9Val) c.437C>G (p.Ser146Cys) c.283+2026C>G (n.283+2026C>G) c.173+3271C>G (n.173+3271C>G) c.213C>G c.424C>G (p.Leu142Val) n.1128C>G | |
16 | g.31091286G>T | CA395729848 | VKORC1 | c.340C>A (p.Leu114Ile) c.401C>A (p.Ser134Tyr) c.422C>A (p.Ser141Tyr) c.230C>A (p.Ser77Tyr) c.434C>A (p.Ser145Tyr) c.302C>A c.25C>A (p.Leu9Ile) c.437C>A (p.Ser146Tyr) c.283+2026C>A (n.283+2026C>A) c.173+3271C>A (n.173+3271C>A) c.213C>A c.424C>A (p.Leu142Ile) n.1128C>A | |
16 | g.31091287A= | CA2216889209 | VKORC1 | c.339T= (p.Ser113=) c.400T= (p.Ser134=) c.421T= (p.Ser141=) c.229T= (p.Ser77=) c.433T= (p.Ser145=) c.301T= c.24T= (p.Ser8=) c.436T= (p.Ser146=) c.283+2025T= (n.283+2025T=) c.173+3270T= (n.173+3270T=) c.212T= c.423T= (p.Ser141=) n.1127T= | |
16 | g.31091287A>C | CA395729852 | VKORC1 | c.339T>G (p.Ser113=) c.400T>G (p.Ser134Ala) c.421T>G (p.Ser141Ala) c.229T>G (p.Ser77Ala) c.433T>G (p.Ser145Ala) c.301T>G c.24T>G (p.Ser8=) c.436T>G (p.Ser146Ala) c.283+2025T>G (n.283+2025T>G) c.173+3270T>G (n.173+3270T>G) c.212T>G c.423T>G (p.Ser141=) n.1127T>G | |
16 | g.31091287A>G | CA395729854 | VKORC1 | c.339T>C (p.Ser113=) c.400T>C (p.Ser134Pro) c.421T>C (p.Ser141Pro) c.229T>C (p.Ser77Pro) c.433T>C (p.Ser145Pro) c.301T>C c.24T>C (p.Ser8=) c.436T>C (p.Ser146Pro) c.283+2025T>C (n.283+2025T>C) c.173+3270T>C (n.173+3270T>C) c.212T>C c.423T>C (p.Ser141=) n.1127T>C | dbSNP gnomAD v4 |
16 | g.31091287A>T | CA395729856 | VKORC1 | c.339T>A (p.Ser113=) c.400T>A (p.Ser134Thr) c.421T>A (p.Ser141Thr) c.229T>A (p.Ser77Thr) c.433T>A (p.Ser145Thr) c.301T>A c.24T>A (p.Ser8=) c.436T>A (p.Ser146Thr) c.283+2025T>A (n.283+2025T>A) c.173+3270T>A (n.173+3270T>A) c.212T>A c.423T>A (p.Ser141=) n.1127T>A | |
16 | g.31091288G>A | CA395729859 | VKORC1 | c.338C>T (p.Ser113Phe) c.399C>T (p.Val133=) c.420C>T (p.Val140=) c.228C>T (p.Val76=) c.432C>T (p.Val144=) c.300C>T c.23C>T (p.Ser8Phe) c.435C>T (p.Val145=) c.283+2024C>T (n.283+2024C>T) c.173+3269C>T (n.173+3269C>T) c.211C>T c.422C>T (p.Ser141Phe) n.1126C>T | |
16 | g.31091288G>C | CA395729860 | VKORC1 | c.338C>G (p.Ser113Cys) c.399C>G (p.Val133=) c.420C>G (p.Val140=) c.228C>G (p.Val76=) c.432C>G (p.Val144=) c.300C>G c.23C>G (p.Ser8Cys) c.435C>G (p.Val145=) c.283+2024C>G (n.283+2024C>G) c.173+3269C>G (n.173+3269C>G) c.211C>G c.422C>G (p.Ser141Cys) n.1126C>G | |
16 | g.31091288G>T | CA395729862 | VKORC1 | c.338C>A (p.Ser113Tyr) c.399C>A (p.Val133=) c.420C>A (p.Val140=) c.228C>A (p.Val76=) c.432C>A (p.Val144=) c.300C>A c.23C>A (p.Ser8Tyr) c.435C>A (p.Val145=) c.283+2024C>A (n.283+2024C>A) c.173+3269C>A (n.173+3269C>A) c.211C>A c.422C>A (p.Ser141Tyr) n.1126C>A | |
16 | g.31091289A= | CA2216889217 | VKORC1 | c.337T= (p.Ser113=) c.398T= (p.Val133=) c.419T= (p.Val140=) c.227T= (p.Val76=) c.431T= (p.Val144=) c.299T= c.22T= (p.Ser8=) c.434T= (p.Val145=) c.283+2023T= (n.283+2023T=) c.173+3268T= (n.173+3268T=) c.210T= c.421T= (p.Ser141=) n.1125T= | |
16 | g.31091289A>C | CA395729864 | VKORC1 | c.337T>G (p.Ser113Ala) c.398T>G (p.Val133Gly) c.419T>G (p.Val140Gly) c.227T>G (p.Val76Gly) c.431T>G (p.Val144Gly) c.299T>G c.22T>G (p.Ser8Ala) c.434T>G (p.Val145Gly) c.283+2023T>G (n.283+2023T>G) c.173+3268T>G (n.173+3268T>G) c.210T>G c.421T>G (p.Ser141Ala) n.1125T>G | dbSNP gnomAD v2 gnomAD v4 |
16 | g.31091289A>G | CA395729866 | VKORC1 | c.337T>C (p.Ser113Pro) c.398T>C (p.Val133Ala) c.419T>C (p.Val140Ala) c.227T>C (p.Val76Ala) c.431T>C (p.Val144Ala) c.299T>C c.22T>C (p.Ser8Pro) c.434T>C (p.Val145Ala) c.283+2023T>C (n.283+2023T>C) c.173+3268T>C (n.173+3268T>C) c.210T>C c.421T>C (p.Ser141Pro) n.1125T>C | |
16 | g.31091289A>T | CA395729867 | VKORC1 | c.337T>A (p.Ser113Thr) c.398T>A (p.Val133Asp) c.419T>A (p.Val140Asp) c.227T>A (p.Val76Asp) c.431T>A (p.Val144Asp) c.299T>A c.22T>A (p.Ser8Thr) c.434T>A (p.Val145Asp) c.283+2023T>A (n.283+2023T>A) c.173+3268T>A (n.173+3268T>A) c.210T>A c.421T>A (p.Ser141Thr) n.1125T>A | |
16 | g.31091290C>A | CA395729870 | VKORC1 | c.336G>T (p.Val112=) c.397G>T (p.Val133Phe) c.418G>T (p.Val140Phe) c.226G>T (p.Val76Phe) c.430G>T (p.Val144Phe) c.298G>T c.21G>T (p.Val7=) c.433G>T (p.Val145Phe) c.283+2022G>T (n.283+2022G>T) c.173+3267G>T (n.173+3267G>T) c.209G>T c.420G>T (p.Val140=) n.1124G>T | |
16 | g.31091290C= | CA2216889222 | VKORC1 | c.336G= (p.Val112=) c.397G= (p.Val133=) c.418G= (p.Val140=) c.226G= (p.Val76=) c.430G= (p.Val144=) c.298G= c.21G= (p.Val7=) c.433G= (p.Val145=) c.283+2022G= (n.283+2022G=) c.173+3267G= (n.173+3267G=) c.209G= c.420G= (p.Val140=) n.1124G= | |
16 | g.31091290C>G | CA395729872 | VKORC1 | c.336G>C (p.Val112=) c.397G>C (p.Val133Leu) c.418G>C (p.Val140Leu) c.226G>C (p.Val76Leu) c.430G>C (p.Val144Leu) c.298G>C c.21G>C (p.Val7=) c.433G>C (p.Val145Leu) c.283+2022G>C (n.283+2022G>C) c.173+3267G>C (n.173+3267G>C) c.209G>C c.420G>C (p.Val140=) n.1124G>C | |
16 | g.31091290C>T | CA395729873 | VKORC1 | c.336G>A (p.Val112=) c.397G>A (p.Val133Ile) c.418G>A (p.Val140Ile) c.226G>A (p.Val76Ile) c.430G>A (p.Val144Ile) c.298G>A c.21G>A (p.Val7=) c.433G>A (p.Val145Ile) c.283+2022G>A (n.283+2022G>A) c.173+3267G>A (n.173+3267G>A) c.209G>A c.420G>A (p.Val140=) n.1124G>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.31091291A= | CA2216889227 | VKORC1 | c.335T= (p.Val112=) c.396T= (p.Gly132=) c.417T= (p.Gly139=) c.225T= (p.Gly75=) c.429T= (p.Gly143=) c.297T= c.20T= (p.Val7=) c.432T= (p.Gly144=) c.283+2021T= (n.283+2021T=) c.173+3266T= (n.173+3266T=) c.208T= c.419T= (p.Val140=) n.1123T= | |
16 | g.31091291A>C | CA395729876 | VKORC1 | c.335T>G (p.Val112Gly) c.396T>G (p.Gly132=) c.417T>G (p.Gly139=) c.225T>G (p.Gly75=) c.429T>G (p.Gly143=) c.297T>G c.20T>G (p.Val7Gly) c.432T>G (p.Gly144=) c.283+2021T>G (n.283+2021T>G) c.173+3266T>G (n.173+3266T>G) c.208T>G c.419T>G (p.Val140Gly) n.1123T>G | dbSNP |
16 | g.31091291A>G | CA395729879 | VKORC1 | c.335T>C (p.Val112Ala) c.396T>C (p.Gly132=) c.417T>C (p.Gly139=) c.225T>C (p.Gly75=) c.429T>C (p.Gly143=) c.297T>C c.20T>C (p.Val7Ala) c.432T>C (p.Gly144=) c.283+2021T>C (n.283+2021T>C) c.173+3266T>C (n.173+3266T>C) c.208T>C c.419T>C (p.Val140Ala) n.1123T>C | |
16 | g.31091291A>T | CA395729878 | VKORC1 | c.335T>A (p.Val112Glu) c.396T>A (p.Gly132=) c.417T>A (p.Gly139=) c.225T>A (p.Gly75=) c.429T>A (p.Gly143=) c.297T>A c.20T>A (p.Val7Glu) c.432T>A (p.Gly144=) c.283+2021T>A (n.283+2021T>A) c.173+3266T>A (n.173+3266T>A) c.208T>A c.419T>A (p.Val140Glu) n.1123T>A | |
16 | g.31091292C>A | CA395729881 | VKORC1 | c.334G>T (p.Val112Leu) c.395G>T (p.Gly132Val) c.416G>T (p.Gly139Val) c.224G>T (p.Gly75Val) c.428G>T (p.Gly143Val) c.296G>T c.19G>T (p.Val7Leu) c.431G>T (p.Gly144Val) c.283+2020G>T (n.283+2020G>T) c.173+3265G>T (n.173+3265G>T) c.207G>T c.418G>T (p.Val140Leu) n.1122G>T | gnomAD v4 |
16 | g.31091292C= | CA2216889233 | VKORC1 | c.334G= (p.Val112=) c.395G= (p.Gly132=) c.416G= (p.Gly139=) c.224G= (p.Gly75=) c.428G= (p.Gly143=) c.296G= c.19G= (p.Val7=) c.431G= (p.Gly144=) c.283+2020G= (n.283+2020G=) c.173+3265G= (n.173+3265G=) c.207G= c.418G= (p.Val140=) n.1122G= | |
16 | g.31091292C>G | CA395729882 | VKORC1 | c.334G>C (p.Val112Leu) c.395G>C (p.Gly132Ala) c.416G>C (p.Gly139Ala) c.224G>C (p.Gly75Ala) c.428G>C (p.Gly143Ala) c.296G>C c.19G>C (p.Val7Leu) c.431G>C (p.Gly144Ala) c.283+2020G>C (n.283+2020G>C) c.173+3265G>C (n.173+3265G>C) c.207G>C c.418G>C (p.Val140Leu) n.1122G>C | |
16 | g.31091292C>T | CA280619974 | VKORC1 | c.334G>A (p.Val112Met) c.395G>A (p.Gly132Asp) c.416G>A (p.Gly139Asp) c.224G>A (p.Gly75Asp) c.428G>A (p.Gly143Asp) c.296G>A c.19G>A (p.Val7Met) c.431G>A (p.Gly144Asp) c.283+2020G>A (n.283+2020G>A) c.173+3265G>A (n.173+3265G>A) c.207G>A c.418G>A (p.Val140Met) n.1122G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.31091293C>A | CA395729885 | VKORC1 | c.333G>T (p.Leu111=) c.394G>T (p.Gly132Cys) c.415G>T (p.Gly139Cys) c.223G>T (p.Gly75Cys) c.427G>T (p.Gly143Cys) c.295G>T c.18G>T (p.Leu6=) c.430G>T (p.Gly144Cys) c.283+2019G>T (n.283+2019G>T) c.173+3264G>T (n.173+3264G>T) c.206G>T c.417G>T (p.Leu139=) n.1121G>T | |
16 | g.31091293C= | CA2216889237 | VKORC1 | c.333G= (p.Leu111=) c.394G= (p.Gly132=) c.415G= (p.Gly139=) c.223G= (p.Gly75=) c.427G= (p.Gly143=) c.295G= c.18G= (p.Leu6=) c.430G= (p.Gly144=) c.283+2019G= (n.283+2019G=) c.173+3264G= (n.173+3264G=) c.206G= c.417G= (p.Leu139=) n.1121G= | |
16 | g.31091293C>G | CA395729887 | VKORC1 | c.333G>C (p.Leu111=) c.394G>C (p.Gly132Arg) c.415G>C (p.Gly139Arg) c.223G>C (p.Gly75Arg) c.427G>C (p.Gly143Arg) c.295G>C c.18G>C (p.Leu6=) c.430G>C (p.Gly144Arg) c.283+2019G>C (n.283+2019G>C) c.173+3264G>C (n.173+3264G>C) c.206G>C c.417G>C (p.Leu139=) n.1121G>C | |
16 | g.31091293C>T | CA395729888 | VKORC1 | c.333G>A (p.Leu111=) c.394G>A (p.Gly132Ser) c.415G>A (p.Gly139Ser) c.223G>A (p.Gly75Ser) c.427G>A (p.Gly143Ser) c.295G>A c.18G>A (p.Leu6=) c.430G>A (p.Gly144Ser) c.283+2019G>A (n.283+2019G>A) c.173+3264G>A (n.173+3264G>A) c.206G>A c.417G>A (p.Leu139=) n.1121G>A | dbSNP gnomAD v4 |
16 | g.31091294A= | CA2216889244 | VKORC1 | c.332T= (p.Leu111=) c.393T= (p.Pro131=) c.414T= (p.Pro138=) c.222T= (p.Pro74=) c.426T= (p.Pro142=) c.294T= c.17T= (p.Leu6=) c.429T= (p.Pro143=) c.283+2018T= (n.283+2018T=) c.173+3263T= (n.173+3263T=) c.205T= c.416T= (p.Leu139=) n.1120T= | |
16 | g.31091294A>C | CA395729890 | VKORC1 | c.332T>G (p.Leu111Arg) c.393T>G (p.Pro131=) c.414T>G (p.Pro138=) c.222T>G (p.Pro74=) c.426T>G (p.Pro142=) c.294T>G c.17T>G (p.Leu6Arg) c.429T>G (p.Pro143=) c.283+2018T>G (n.283+2018T>G) c.173+3263T>G (n.173+3263T>G) c.205T>G c.416T>G (p.Leu139Arg) n.1120T>G | dbSNP gnomAD v3 gnomAD v4 |
16 | g.31091294A>G | CA280619979 | VKORC1 | c.332T>C (p.Leu111Pro) c.393T>C (p.Pro131=) c.414T>C (p.Pro138=) c.222T>C (p.Pro74=) c.426T>C (p.Pro142=) c.294T>C c.17T>C (p.Leu6Pro) c.429T>C (p.Pro143=) c.283+2018T>C (n.283+2018T>C) c.173+3263T>C (n.173+3263T>C) c.205T>C c.416T>C (p.Leu139Pro) n.1120T>C | dbSNP |
16 | g.31091294A>T | CA395729893 | VKORC1 | c.332T>A (p.Leu111Gln) c.393T>A (p.Pro131=) c.414T>A (p.Pro138=) c.222T>A (p.Pro74=) c.426T>A (p.Pro142=) c.294T>A c.17T>A (p.Leu6Gln) c.429T>A (p.Pro143=) c.283+2018T>A (n.283+2018T>A) c.173+3263T>A (n.173+3263T>A) c.205T>A c.416T>A (p.Leu139Gln) n.1120T>A | |
16 | g.31091295G>A | CA395729895 | VKORC1 | c.331C>T (p.Leu111=) c.392C>T (p.Pro131Leu) c.413C>T (p.Pro138Leu) c.221C>T (p.Pro74Leu) c.425C>T (p.Pro142Leu) c.293C>T c.16C>T (p.Leu6=) c.428C>T (p.Pro143Leu) c.283+2017C>T (n.283+2017C>T) c.173+3262C>T (n.173+3262C>T) c.204C>T c.415C>T (p.Leu139=) n.1119C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.31091295G>C | CA395729897 | VKORC1 | c.331C>G (p.Leu111Val) c.392C>G (p.Pro131Arg) c.413C>G (p.Pro138Arg) c.221C>G (p.Pro74Arg) c.425C>G (p.Pro142Arg) c.293C>G c.16C>G (p.Leu6Val) c.428C>G (p.Pro143Arg) c.283+2017C>G (n.283+2017C>G) c.173+3262C>G (n.173+3262C>G) c.204C>G c.415C>G (p.Leu139Val) n.1119C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.31091295G= | CA2216889249 | VKORC1 | c.331C= (p.Leu111=) c.392C= (p.Pro131=) c.413C= (p.Pro138=) c.221C= (p.Pro74=) c.425C= (p.Pro142=) c.293C= c.16C= (p.Leu6=) c.428C= (p.Pro143=) c.283+2017C= (n.283+2017C=) c.173+3262C= (n.173+3262C=) c.204C= c.415C= (p.Leu139=) n.1119C= | |
16 | g.31091295G>T | CA395729898 | VKORC1 | c.331C>A (p.Leu111Met) c.392C>A (p.Pro131His) c.413C>A (p.Pro138His) c.221C>A (p.Pro74His) c.425C>A (p.Pro142His) c.293C>A c.16C>A (p.Leu6Met) c.428C>A (p.Pro143His) c.283+2017C>A (n.283+2017C>A) c.173+3262C>A (n.173+3262C>A) c.204C>A c.415C>A (p.Leu139Met) n.1119C>A | |
16 | g.31091296G>A | CA395729904 | VKORC1 | c.330C>T (p.Ser110=) c.391C>T (p.Pro131Ser) c.412C>T (p.Pro138Ser) c.220C>T (p.Pro74Ser) c.424C>T (p.Pro142Ser) c.292C>T c.15C>T (p.Ser5=) c.427C>T (p.Pro143Ser) c.283+2016C>T (n.283+2016C>T) c.173+3261C>T (n.173+3261C>T) c.203C>T c.414C>T (p.Ser138=) n.1118C>T | gnomAD v4 |
16 | g.31091296G>C | CA395729900 | VKORC1 | c.330C>G (p.Ser110=) c.391C>G (p.Pro131Ala) c.412C>G (p.Pro138Ala) c.220C>G (p.Pro74Ala) c.424C>G (p.Pro142Ala) c.292C>G c.15C>G (p.Ser5=) c.427C>G (p.Pro143Ala) c.283+2016C>G (n.283+2016C>G) c.173+3261C>G (n.173+3261C>G) c.203C>G c.414C>G (p.Ser138=) n.1118C>G | |
16 | g.31091296G>T | CA395729902 | VKORC1 | c.330C>A (p.Ser110=) c.391C>A (p.Pro131Thr) c.412C>A (p.Pro138Thr) c.220C>A (p.Pro74Thr) c.424C>A (p.Pro142Thr) c.292C>A c.15C>A (p.Ser5=) c.427C>A (p.Pro143Thr) c.283+2016C>A (n.283+2016C>A) c.173+3261C>A (n.173+3261C>A) c.203C>A c.414C>A (p.Ser138=) n.1118C>A | |
16 | g.31091297G>A | CA280619980 | VKORC1 | c.329C>T (p.Ser110Phe) c.390C>T (p.Leu130=) c.411C>T (p.Leu137=) c.219C>T (p.Leu73=) c.423C>T (p.Leu141=) c.291C>T c.14C>T (p.Ser5Phe) c.426C>T (p.Leu142=) c.283+2015C>T (n.283+2015C>T) c.173+3260C>T (n.173+3260C>T) c.202C>T c.413C>T (p.Ser138Phe) n.1117C>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.31091297G>C | CA395729906 | VKORC1 | c.329C>G (p.Ser110Cys) c.390C>G (p.Leu130=) c.411C>G (p.Leu137=) c.219C>G (p.Leu73=) c.423C>G (p.Leu141=) c.291C>G c.14C>G (p.Ser5Cys) c.426C>G (p.Leu142=) c.283+2015C>G (n.283+2015C>G) c.173+3260C>G (n.173+3260C>G) c.202C>G c.413C>G (p.Ser138Cys) n.1117C>G | |
16 | g.31091297G= | CA2216889254 | VKORC1 | c.329C= (p.Ser110=) c.390C= (p.Leu130=) c.411C= (p.Leu137=) c.219C= (p.Leu73=) c.423C= (p.Leu141=) c.291C= c.14C= (p.Ser5=) c.426C= (p.Leu142=) c.283+2015C= (n.283+2015C=) c.173+3260C= (n.173+3260C=) c.202C= c.413C= (p.Ser138=) n.1117C= | |
16 | g.31091297G>T | CA395729908 | VKORC1 | c.329C>A (p.Ser110Tyr) c.390C>A (p.Leu130=) c.411C>A (p.Leu137=) c.219C>A (p.Leu73=) c.423C>A (p.Leu141=) c.291C>A c.14C>A (p.Ser5Tyr) c.426C>A (p.Leu142=) c.283+2015C>A (n.283+2015C>A) c.173+3260C>A (n.173+3260C>A) c.202C>A c.413C>A (p.Ser138Tyr) n.1117C>A | gnomAD v4 |
16 | g.31091298A= | CA2216889260 | VKORC1 | c.328T= (p.Ser110=) c.389T= (p.Leu130=) c.410T= (p.Leu137=) c.218T= (p.Leu73=) c.422T= (p.Leu141=) c.290T= c.13T= (p.Ser5=) c.425T= (p.Leu142=) c.283+2014T= (n.283+2014T=) c.173+3259T= (n.173+3259T=) c.201T= c.412T= (p.Ser138=) n.1116T= | |
16 | g.31091298A>C | CA395729910 | VKORC1 | c.328T>G (p.Ser110Ala) c.389T>G (p.Leu130Arg) c.410T>G (p.Leu137Arg) c.218T>G (p.Leu73Arg) c.422T>G (p.Leu141Arg) c.290T>G c.13T>G (p.Ser5Ala) c.425T>G (p.Leu142Arg) c.283+2014T>G (n.283+2014T>G) c.173+3259T>G (n.173+3259T>G) c.201T>G c.412T>G (p.Ser138Ala) n.1116T>G | |
16 | g.31091298A>G | CA395729912 | VKORC1 | c.328T>C (p.Ser110Pro) c.389T>C (p.Leu130Pro) c.410T>C (p.Leu137Pro) c.218T>C (p.Leu73Pro) c.422T>C (p.Leu141Pro) c.290T>C c.13T>C (p.Ser5Pro) c.425T>C (p.Leu142Pro) c.283+2014T>C (n.283+2014T>C) c.173+3259T>C (n.173+3259T>C) c.201T>C c.412T>C (p.Ser138Pro) n.1116T>C | |
16 | g.31091298A>T | CA280619983 | VKORC1 | c.328T>A (p.Ser110Thr) c.389T>A (p.Leu130His) c.410T>A (p.Leu137His) c.218T>A (p.Leu73His) c.422T>A (p.Leu141His) c.290T>A c.13T>A (p.Ser5Thr) c.425T>A (p.Leu142His) c.283+2014T>A (n.283+2014T>A) c.173+3259T>A (n.173+3259T>A) c.201T>A c.412T>A (p.Ser138Thr) n.1116T>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.31091299G>A | CA395729915 | VKORC1 | c.327C>T (p.Ser109=) c.388C>T (p.Leu130Phe) c.409C>T (p.Leu137Phe) c.217C>T (p.Leu73Phe) c.421C>T (p.Leu141Phe) c.289C>T c.12C>T (p.Ser4=) c.424C>T (p.Leu142Phe) c.283+2013C>T (n.283+2013C>T) c.173+3258C>T (n.173+3258C>T) c.200C>T c.411C>T (p.Ser137=) n.1115C>T | |
16 | g.31091299G>C | CA395729916 | VKORC1 | c.327C>G (p.Ser109Arg) c.388C>G (p.Leu130Val) c.409C>G (p.Leu137Val) c.217C>G (p.Leu73Val) c.421C>G (p.Leu141Val) c.289C>G c.12C>G (p.Ser4Arg) c.424C>G (p.Leu142Val) c.283+2013C>G (n.283+2013C>G) c.173+3258C>G (n.173+3258C>G) c.200C>G c.411C>G (p.Ser137Arg) n.1115C>G | dbSNP |
16 | g.31091299G= | CA2216889264 | VKORC1 | c.327C= (p.Ser109=) c.388C= (p.Leu130=) c.409C= (p.Leu137=) c.217C= (p.Leu73=) c.421C= (p.Leu141=) c.289C= c.12C= (p.Ser4=) c.424C= (p.Leu142=) c.283+2013C= (n.283+2013C=) c.173+3258C= (n.173+3258C=) c.200C= c.411C= (p.Ser137=) n.1115C= | |
16 | g.31091299G>T | CA395729918 | VKORC1 | c.327C>A (p.Ser109Arg) c.388C>A (p.Leu130Ile) c.409C>A (p.Leu137Ile) c.217C>A (p.Leu73Ile) c.421C>A (p.Leu141Ile) c.289C>A c.12C>A (p.Ser4Arg) c.424C>A (p.Leu142Ile) c.283+2013C>A (n.283+2013C>A) c.173+3258C>A (n.173+3258C>A) c.200C>A c.411C>A (p.Ser137Arg) n.1115C>A | |
16 | g.31091300C>A | CA395729920 | VKORC1 | c.326G>T (p.Ser109Ile) c.387G>T (p.Glu129Asp) c.408G>T (p.Glu136Asp) c.216G>T (p.Glu72Asp) c.420G>T (p.Glu140Asp) c.288G>T c.11G>T (p.Ser4Ile) c.423G>T (p.Glu141Asp) c.283+2012G>T (n.283+2012G>T) c.173+3257G>T (n.173+3257G>T) c.199G>T c.410G>T (p.Ser137Ile) n.1114G>T | |
16 | g.31091300C= | CA2216889269 | VKORC1 | c.326G= (p.Ser109=) c.387G= (p.Glu129=) c.408G= (p.Glu136=) c.216G= (p.Glu72=) c.420G= (p.Glu140=) c.288G= c.11G= (p.Ser4=) c.423G= (p.Glu141=) c.283+2012G= (n.283+2012G=) c.173+3257G= (n.173+3257G=) c.199G= c.410G= (p.Ser137=) n.1114G= | |
16 | g.31091300C>G | CA395729922 | VKORC1 | c.326G>C (p.Ser109Thr) c.387G>C (p.Glu129Asp) c.408G>C (p.Glu136Asp) c.216G>C (p.Glu72Asp) c.420G>C (p.Glu140Asp) c.288G>C c.11G>C (p.Ser4Thr) c.423G>C (p.Glu141Asp) c.283+2012G>C (n.283+2012G>C) c.173+3257G>C (n.173+3257G>C) c.199G>C c.410G>C (p.Ser137Thr) n.1114G>C | |
16 | g.31091300C>T | CA395729923 | VKORC1 | c.326G>A (p.Ser109Asn) c.387G>A (p.Glu129=) c.408G>A (p.Glu136=) c.216G>A (p.Glu72=) c.420G>A (p.Glu140=) c.288G>A c.11G>A (p.Ser4Asn) c.423G>A (p.Glu141=) c.283+2012G>A (n.283+2012G>A) c.173+3257G>A (n.173+3257G>A) c.199G>A c.410G>A (p.Ser137Asn) n.1114G>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.31091301T>A | CA395729926 | VKORC1 | c.325A>T (p.Ser109Cys) c.386A>T (p.Glu129Val) c.407A>T (p.Glu136Val) c.215A>T (p.Glu72Val) c.419A>T (p.Glu140Val) c.287A>T c.10A>T (p.Ser4Cys) c.422A>T (p.Glu141Val) c.283+2011A>T (n.283+2011A>T) c.173+3256A>T (n.173+3256A>T) c.198A>T c.409A>T (p.Ser137Cys) n.1113A>T | |
16 | g.31091301T>C | CA395729927 | VKORC1 | c.325A>G (p.Ser109Gly) c.386A>G (p.Glu129Gly) c.407A>G (p.Glu136Gly) c.215A>G (p.Glu72Gly) c.419A>G (p.Glu140Gly) c.287A>G c.10A>G (p.Ser4Gly) c.422A>G (p.Glu141Gly) c.283+2011A>G (n.283+2011A>G) c.173+3256A>G (n.173+3256A>G) c.198A>G c.409A>G (p.Ser137Gly) n.1113A>G | |
16 | g.31091301T>G | CA395729925 | VKORC1 | c.325A>C (p.Ser109Arg) c.386A>C (p.Glu129Ala) c.407A>C (p.Glu136Ala) c.215A>C (p.Glu72Ala) c.419A>C (p.Glu140Ala) c.287A>C c.10A>C (p.Ser4Arg) c.422A>C (p.Glu141Ala) c.283+2011A>C (n.283+2011A>C) c.173+3256A>C (n.173+3256A>C) c.198A>C c.409A>C (p.Ser137Arg) n.1113A>C | |
16 | g.31091302C>A | CA395729931 | VKORC1 | c.324G>T (p.Leu108=) c.385G>T (p.Glu129Ter) c.406G>T (p.Glu136Ter) c.214G>T (p.Glu72Ter) c.418G>T (p.Glu140Ter) c.286G>T c.9G>T (p.Leu3=) c.421G>T (p.Glu141Ter) c.283+2010G>T (n.283+2010G>T) c.173+3255G>T (n.173+3255G>T) c.197G>T c.408G>T (p.Leu136=) n.1112G>T | |
16 | g.31091302C= | CA2216889273 | VKORC1 | c.324G= (p.Leu108=) c.385G= (p.Glu129=) c.406G= (p.Glu136=) c.214G= (p.Glu72=) c.418G= (p.Glu140=) c.286G= c.9G= (p.Leu3=) c.421G= (p.Glu141=) c.283+2010G= (n.283+2010G=) c.173+3255G= (n.173+3255G=) c.197G= c.408G= (p.Leu136=) n.1112G= | |
16 | g.31091302C>G | CA395729930 | VKORC1 | c.324G>C (p.Leu108=) c.385G>C (p.Glu129Gln) c.406G>C (p.Glu136Gln) c.214G>C (p.Glu72Gln) c.418G>C (p.Glu140Gln) c.286G>C c.9G>C (p.Leu3=) c.421G>C (p.Glu141Gln) c.283+2010G>C (n.283+2010G>C) c.173+3255G>C (n.173+3255G>C) c.197G>C c.408G>C (p.Leu136=) n.1112G>C | |
16 | g.31091302C>T | CA395729932 | VKORC1 | c.324G>A (p.Leu108=) c.385G>A (p.Glu129Lys) c.406G>A (p.Glu136Lys) c.214G>A (p.Glu72Lys) c.418G>A (p.Glu140Lys) c.286G>A c.9G>A (p.Leu3=) c.421G>A (p.Glu141Lys) c.283+2010G>A (n.283+2010G>A) c.173+3255G>A (n.173+3255G>A) c.197G>A c.408G>A (p.Leu136=) n.1112G>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.31091303A>C | CA395729934 | VKORC1 | c.323T>G (p.Leu108Arg) c.384T>G (p.Ala128=) c.405T>G (p.Ala135=) c.213T>G (p.Ala71=) c.417T>G (p.Ala139=) c.285T>G c.8T>G (p.Leu3Arg) c.420T>G (p.Ala140=) c.283+2009T>G (n.283+2009T>G) c.173+3254T>G (n.173+3254T>G) c.196T>G c.407T>G (p.Leu136Arg) n.1111T>G | gnomAD v4 |
16 | g.31091303A>G | CA395729935 | VKORC1 | c.323T>C (p.Leu108Pro) c.384T>C (p.Ala128=) c.405T>C (p.Ala135=) c.213T>C (p.Ala71=) c.417T>C (p.Ala139=) c.285T>C c.8T>C (p.Leu3Pro) c.420T>C (p.Ala140=) c.283+2009T>C (n.283+2009T>C) c.173+3254T>C (n.173+3254T>C) c.196T>C c.407T>C (p.Leu136Pro) n.1111T>C | |
16 | g.31091303A>T | CA395729937 | VKORC1 | c.323T>A (p.Leu108Gln) c.384T>A (p.Ala128=) c.405T>A (p.Ala135=) c.213T>A (p.Ala71=) c.417T>A (p.Ala139=) c.285T>A c.8T>A (p.Leu3Gln) c.420T>A (p.Ala140=) c.283+2009T>A (n.283+2009T>A) c.173+3254T>A (n.173+3254T>A) c.196T>A c.407T>A (p.Leu136Gln) n.1111T>A | |
16 | g.31091304G>A | CA395729938 | VKORC1 | c.322C>T (p.Leu108=) c.383C>T (p.Ala128Val) c.404C>T (p.Ala135Val) c.212C>T (p.Ala71Val) c.416C>T (p.Ala139Val) c.284C>T c.7C>T (p.Leu3=) c.419C>T (p.Ala140Val) c.283+2008C>T (n.283+2008C>T) c.173+3253C>T (n.173+3253C>T) c.195C>T c.406C>T (p.Leu136=) n.1110C>T | |
16 | g.31091304G>C | CA395729939 | VKORC1 | c.322C>G (p.Leu108Val) c.383C>G (p.Ala128Gly) c.404C>G (p.Ala135Gly) c.212C>G (p.Ala71Gly) c.416C>G (p.Ala139Gly) c.284C>G c.7C>G (p.Leu3Val) c.419C>G (p.Ala140Gly) c.283+2008C>G (n.283+2008C>G) c.173+3253C>G (n.173+3253C>G) c.195C>G c.406C>G (p.Leu136Val) n.1110C>G | |
16 | g.31091304G>T | CA395729941 | VKORC1 | c.322C>A (p.Leu108Met) c.383C>A (p.Ala128Asp) c.404C>A (p.Ala135Asp) c.212C>A (p.Ala71Asp) c.416C>A (p.Ala139Asp) c.284C>A c.7C>A (p.Leu3Met) c.419C>A (p.Ala140Asp) c.283+2008C>A (n.283+2008C>A) c.173+3253C>A (n.173+3253C>A) c.195C>A c.406C>A (p.Leu136Met) n.1110C>A | |
16 | g.31091305C>A | CA395729946 | VKORC1 | c.321G>T (p.Leu107=) c.382G>T (p.Ala128Ser) c.403G>T (p.Ala135Ser) c.211G>T (p.Ala71Ser) c.415G>T (p.Ala139Ser) c.283G>T c.6G>T (p.Leu2=) c.418G>T (p.Ala140Ser) c.283+2007G>T (n.283+2007G>T) c.173+3252G>T (n.173+3252G>T) c.194G>T c.405G>T (p.Leu135=) n.1109G>T | |
16 | g.31091305C>G | CA395729945 | VKORC1 | c.321G>C (p.Leu107=) c.382G>C (p.Ala128Pro) c.403G>C (p.Ala135Pro) c.211G>C (p.Ala71Pro) c.415G>C (p.Ala139Pro) c.283G>C c.6G>C (p.Leu2=) c.418G>C (p.Ala140Pro) c.283+2007G>C (n.283+2007G>C) c.173+3252G>C (n.173+3252G>C) c.194G>C c.405G>C (p.Leu135=) n.1109G>C | |
16 | g.31091305C>T | CA395729943 | VKORC1 | c.321G>A (p.Leu107=) c.382G>A (p.Ala128Thr) c.403G>A (p.Ala135Thr) c.211G>A (p.Ala71Thr) c.415G>A (p.Ala139Thr) c.283G>A c.6G>A (p.Leu2=) c.418G>A (p.Ala140Thr) c.283+2007G>A (n.283+2007G>A) c.173+3252G>A (n.173+3252G>A) c.194G>A c.405G>A (p.Leu135=) n.1109G>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.31091306A>C | CA395729948 | VKORC1 | c.320T>G (p.Leu107Arg) c.381T>G (p.Ala127=) c.402T>G (p.Ala134=) c.210T>G (p.Ala70=) c.414T>G (p.Ala138=) c.282T>G c.5T>G (p.Leu2Arg) c.417T>G (p.Ala139=) c.283+2006T>G (n.283+2006T>G) c.173+3251T>G (n.173+3251T>G) c.193T>G c.404T>G (p.Leu135Arg) n.1108T>G | |
16 | g.31091306A>G | CA395729950 | VKORC1 | c.320T>C (p.Leu107Pro) c.381T>C (p.Ala127=) c.402T>C (p.Ala134=) c.210T>C (p.Ala70=) c.414T>C (p.Ala138=) c.282T>C c.5T>C (p.Leu2Pro) c.417T>C (p.Ala139=) c.283+2006T>C (n.283+2006T>C) c.173+3251T>C (n.173+3251T>C) c.193T>C c.404T>C (p.Leu135Pro) n.1108T>C | |
16 | g.31091306A>T | CA395729952 | VKORC1 | c.320T>A (p.Leu107Gln) c.381T>A (p.Ala127=) c.402T>A (p.Ala134=) c.210T>A (p.Ala70=) c.414T>A (p.Ala138=) c.282T>A c.5T>A (p.Leu2Gln) c.417T>A (p.Ala139=) c.283+2006T>A (n.283+2006T>A) c.173+3251T>A (n.173+3251T>A) c.193T>A c.404T>A (p.Leu135Gln) n.1108T>A | |
16 | g.31091307G>A | CA395729954 | VKORC1 | c.319C>T (p.Leu107=) c.380C>T (p.Ala127Val) c.401C>T (p.Ala134Val) c.209C>T (p.Ala70Val) c.413C>T (p.Ala138Val) c.281C>T c.4C>T (p.Leu2=) c.416C>T (p.Ala139Val) c.283+2005C>T (n.283+2005C>T) c.173+3250C>T (n.173+3250C>T) c.192C>T c.403C>T (p.Leu135=) n.1107C>T | |
16 | g.31091307G>C | CA395729955 | VKORC1 | c.319C>G (p.Leu107Val) c.380C>G (p.Ala127Gly) c.401C>G (p.Ala134Gly) c.209C>G (p.Ala70Gly) c.413C>G (p.Ala138Gly) c.281C>G c.4C>G (p.Leu2Val) c.416C>G (p.Ala139Gly) c.283+2005C>G (n.283+2005C>G) c.173+3250C>G (n.173+3250C>G) c.192C>G c.403C>G (p.Leu135Val) n.1107C>G | |
16 | g.31091307G>T | CA395729956 | VKORC1 | c.319C>A (p.Leu107Met) c.380C>A (p.Ala127Asp) c.401C>A (p.Ala134Asp) c.209C>A (p.Ala70Asp) c.413C>A (p.Ala138Asp) c.281C>A c.4C>A (p.Leu2Met) c.416C>A (p.Ala139Asp) c.283+2005C>A (n.283+2005C>A) c.173+3250C>A (n.173+3250C>A) c.192C>A c.403C>A (p.Leu135Met) n.1107C>A | |
16 | g.31091308C>A | CA395729958 | VKORC1 | c.318G>T (p.Met106Ile) c.379G>T (p.Ala127Ser) c.400G>T (p.Ala134Ser) c.208G>T (p.Ala70Ser) c.412G>T (p.Ala138Ser) c.280G>T c.3G>T (p.Met1Ile) c.415G>T (p.Ala139Ser) c.283+2004G>T (n.283+2004G>T) c.173+3249G>T (n.173+3249G>T) c.191G>T c.402G>T (p.Met134Ile) n.1106G>T | |
16 | g.31091308C>G | CA395729962 | VKORC1 | c.318G>C (p.Met106Ile) c.379G>C (p.Ala127Pro) c.400G>C (p.Ala134Pro) c.208G>C (p.Ala70Pro) c.412G>C (p.Ala138Pro) c.280G>C c.3G>C (p.Met1Ile) c.415G>C (p.Ala139Pro) c.283+2004G>C (n.283+2004G>C) c.173+3249G>C (n.173+3249G>C) c.191G>C c.402G>C (p.Met134Ile) n.1106G>C | |
16 | g.31091308C>T | CA395729960 | VKORC1 | c.318G>A (p.Met106Ile) c.379G>A (p.Ala127Thr) c.400G>A (p.Ala134Thr) c.208G>A (p.Ala70Thr) c.412G>A (p.Ala138Thr) c.280G>A c.3G>A (p.Met1Ile) c.415G>A (p.Ala139Thr) c.283+2004G>A (n.283+2004G>A) c.173+3249G>A (n.173+3249G>A) c.191G>A c.402G>A (p.Met134Ile) n.1106G>A | |
16 | g.31091309A>C | CA395729964 | VKORC1 | c.317T>G (p.Met106Arg) c.378T>G (p.Asp126Glu) c.399T>G (p.Asp133Glu) c.207T>G (p.Asp69Glu) c.411T>G (p.Asp137Glu) c.279T>G c.2T>G (p.Met1Arg) c.414T>G (p.Asp138Glu) c.283+2003T>G (n.283+2003T>G) c.173+3248T>G (n.173+3248T>G) c.190T>G c.401T>G (p.Met134Arg) n.1105T>G | |
16 | g.31091309A>G | CA395729966 | VKORC1 | c.317T>C (p.Met106Thr) c.378T>C (p.Asp126=) c.399T>C (p.Asp133=) c.207T>C (p.Asp69=) c.411T>C (p.Asp137=) c.279T>C c.2T>C (p.Met1Thr) c.414T>C (p.Asp138=) c.283+2003T>C (n.283+2003T>C) c.173+3248T>C (n.173+3248T>C) c.190T>C c.401T>C (p.Met134Thr) n.1105T>C | gnomAD v4 |
16 | g.31091309A>T | CA395729967 | VKORC1 | c.317T>A (p.Met106Lys) c.378T>A (p.Asp126Glu) c.399T>A (p.Asp133Glu) c.207T>A (p.Asp69Glu) c.411T>A (p.Asp137Glu) c.279T>A c.2T>A (p.Met1Lys) c.414T>A (p.Asp138Glu) c.283+2003T>A (n.283+2003T>A) c.173+3248T>A (n.173+3248T>A) c.190T>A c.401T>A (p.Met134Lys) n.1105T>A | |
16 | g.31091310T>A | CA395729969 | VKORC1 | c.316A>T (p.Met106Leu) c.377A>T (p.Asp126Val) c.398A>T (p.Asp133Val) c.206A>T (p.Asp69Val) c.410A>T (p.Asp137Val) c.278A>T c.1A>T (p.Met1Leu) c.413A>T (p.Asp138Val) c.283+2002A>T (n.283+2002A>T) c.173+3247A>T (n.173+3247A>T) c.189A>T c.400A>T (p.Met134Leu) n.1104A>T | dbSNP |
16 | g.31091310T>C | CA395729970 | VKORC1 | c.316A>G (p.Met106Val) c.377A>G (p.Asp126Gly) c.398A>G (p.Asp133Gly) c.206A>G (p.Asp69Gly) c.410A>G (p.Asp137Gly) c.278A>G c.1A>G (p.Met1Val) c.413A>G (p.Asp138Gly) c.283+2002A>G (n.283+2002A>G) c.173+3247A>G (n.173+3247A>G) c.189A>G c.400A>G (p.Met134Val) n.1104A>G | |
16 | g.31091310T>G | CA395729972 | VKORC1 | c.316A>C (p.Met106Leu) c.377A>C (p.Asp126Ala) c.398A>C (p.Asp133Ala) c.206A>C (p.Asp69Ala) c.410A>C (p.Asp137Ala) c.278A>C c.1A>C (p.Met1Leu) c.413A>C (p.Asp138Ala) c.283+2002A>C (n.283+2002A>C) c.173+3247A>C (n.173+3247A>C) c.189A>C c.400A>C (p.Met134Leu) n.1104A>C | |
16 | g.31091310T= | CA2216889276 | VKORC1 | c.316A= (p.Met106=) c.377A= (p.Asp126=) c.398A= (p.Asp133=) c.206A= (p.Asp69=) c.410A= (p.Asp137=) c.278A= c.1A= (p.Met1=) c.413A= (p.Asp138=) c.283+2002A= (n.283+2002A=) c.173+3247A= (n.173+3247A=) c.189A= c.400A= (p.Met134=) n.1104A= | |
16 | g.31091311C>A | CA395729974 | VKORC1 | c.315G>T (p.Leu105=) c.376G>T (p.Asp126Tyr) c.397G>T (p.Asp133Tyr) c.205G>T (p.Asp69Tyr) c.409G>T (p.Asp137Tyr) c.277G>T c.-1G>T (n.-1G>T) c.412G>T (p.Asp138Tyr) c.283+2001G>T (n.283+2001G>T) c.173+3246G>T (n.173+3246G>T) c.188G>T c.399G>T (p.Leu133=) n.1103G>T | |
16 | g.31091311C>G | CA395729976 | VKORC1 | c.315G>C (p.Leu105=) c.376G>C (p.Asp126His) c.397G>C (p.Asp133His) c.205G>C (p.Asp69His) c.409G>C (p.Asp137His) c.277G>C c.-1G>C (n.-1G>C) c.412G>C (p.Asp138His) c.283+2001G>C (n.283+2001G>C) c.173+3246G>C (n.173+3246G>C) c.188G>C c.399G>C (p.Leu133=) n.1103G>C | |
16 | g.31091311C>T | CA395729977 | VKORC1 | c.315G>A (p.Leu105=) c.376G>A (p.Asp126Asn) c.397G>A (p.Asp133Asn) c.205G>A (p.Asp69Asn) c.409G>A (p.Asp137Asn) c.277G>A c.-1G>A (n.-1G>A) c.412G>A (p.Asp138Asn) c.283+2001G>A (n.283+2001G>A) c.173+3246G>A (n.173+3246G>A) c.188G>A c.399G>A (p.Leu133=) n.1103G>A | |
16 | g.31091312A= | CA2216889279 | VKORC1 | c.314T= (p.Leu105=) c.375T= (p.Pro125=) c.396T= (p.Pro132=) c.204T= (p.Pro68=) c.408T= (p.Pro136=) c.276T= c.-2T= (n.-2T=) c.411T= (p.Pro137=) c.283+2000T= (n.283+2000T=) c.173+3245T= (n.173+3245T=) c.187T= c.398T= (p.Leu133=) n.1102T= | |
16 | g.31091312A>C | CA395729979 | VKORC1 | c.314T>G (p.Leu105Arg) c.375T>G (p.Pro125=) c.396T>G (p.Pro132=) c.204T>G (p.Pro68=) c.408T>G (p.Pro136=) c.276T>G c.-2T>G (n.-2T>G) c.411T>G (p.Pro137=) c.283+2000T>G (n.283+2000T>G) c.173+3245T>G (n.173+3245T>G) c.187T>G c.398T>G (p.Leu133Arg) n.1102T>G | |
16 | g.31091312A>G | CA395729981 | VKORC1 | c.314T>C (p.Leu105Pro) c.375T>C (p.Pro125=) c.396T>C (p.Pro132=) c.204T>C (p.Pro68=) c.408T>C (p.Pro136=) c.276T>C c.-2T>C (n.-2T>C) c.411T>C (p.Pro137=) c.283+2000T>C (n.283+2000T>C) c.173+3245T>C (n.173+3245T>C) c.187T>C c.398T>C (p.Leu133Pro) n.1102T>C | dbSNP gnomAD v3 gnomAD v4 |
16 | g.31091312A>T | CA395729983 | VKORC1 | c.314T>A (p.Leu105Gln) c.375T>A (p.Pro125=) c.396T>A (p.Pro132=) c.204T>A (p.Pro68=) c.408T>A (p.Pro136=) c.276T>A c.-2T>A (n.-2T>A) c.411T>A (p.Pro137=) c.283+2000T>A (n.283+2000T>A) c.173+3245T>A (n.173+3245T>A) c.187T>A c.398T>A (p.Leu133Gln) n.1102T>A | |
16 | g.31091313G>A | CA395729985 | VKORC1 | c.313C>T (p.Leu105=) c.374C>T (p.Pro125Leu) c.395C>T (p.Pro132Leu) c.203C>T (p.Pro68Leu) c.407C>T (p.Pro136Leu) c.275C>T c.-3C>T (n.-3C>T) c.410C>T (p.Pro137Leu) c.283+1999C>T (n.283+1999C>T) c.173+3244C>T (n.173+3244C>T) c.186C>T c.397C>T (p.Leu133=) n.1101C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.31091313G>C | CA395729988 | VKORC1 | c.313C>G (p.Leu105Val) c.374C>G (p.Pro125Arg) c.395C>G (p.Pro132Arg) c.203C>G (p.Pro68Arg) c.407C>G (p.Pro136Arg) c.275C>G c.-3C>G (n.-3C>G) c.410C>G (p.Pro137Arg) c.283+1999C>G (n.283+1999C>G) c.173+3244C>G (n.173+3244C>G) c.186C>G c.397C>G (p.Leu133Val) n.1101C>G | |
16 | g.31091313G= | CA2216889283 | VKORC1 | c.313C= (p.Leu105=) c.374C= (p.Pro125=) c.395C= (p.Pro132=) c.203C= (p.Pro68=) c.407C= (p.Pro136=) c.275C= c.-3C= (n.-3C=) c.410C= (p.Pro137=) c.283+1999C= (n.283+1999C=) c.173+3244C= (n.173+3244C=) c.186C= c.397C= (p.Leu133=) n.1101C= | |
16 | g.31091313G>T | CA395729987 | VKORC1 | c.313C>A (p.Leu105Met) c.374C>A (p.Pro125His) c.395C>A (p.Pro132His) c.203C>A (p.Pro68His) c.407C>A (p.Pro136His) c.275C>A c.-3C>A (n.-3C>A) c.410C>A (p.Pro137His) c.283+1999C>A (n.283+1999C>A) c.173+3244C>A (n.173+3244C>A) c.186C>A c.397C>A (p.Leu133Met) n.1101C>A | dbSNP |
16 | g.31091314G>A | CA395729989 | VKORC1 | c.312C>T (p.Val104=) c.373C>T (p.Pro125Ser) c.394C>T (p.Pro132Ser) c.202C>T (p.Pro68Ser) c.406C>T (p.Pro136Ser) c.274C>T c.-4C>T (n.-4C>T) c.409C>T (p.Pro137Ser) c.283+1998C>T (n.283+1998C>T) c.173+3243C>T (n.173+3243C>T) c.185C>T c.396C>T (p.Val132=) n.1100C>T | dbSNP |
16 | g.31091314G>C | CA395729991 | VKORC1 | c.312C>G (p.Val104=) c.373C>G (p.Pro125Ala) c.394C>G (p.Pro132Ala) c.202C>G (p.Pro68Ala) c.406C>G (p.Pro136Ala) c.274C>G c.-4C>G (n.-4C>G) c.409C>G (p.Pro137Ala) c.283+1998C>G (n.283+1998C>G) c.173+3243C>G (n.173+3243C>G) c.185C>G c.396C>G (p.Val132=) n.1100C>G | dbSNP gnomAD v3 gnomAD v4 |
16 | g.31091314G= | CA2216889286 | VKORC1 | c.312C= (p.Val104=) c.373C= (p.Pro125=) c.394C= (p.Pro132=) c.202C= (p.Pro68=) c.406C= (p.Pro136=) c.274C= c.-4C= (n.-4C=) c.409C= (p.Pro137=) c.283+1998C= (n.283+1998C=) c.173+3243C= (n.173+3243C=) c.185C= c.396C= (p.Val132=) n.1100C= | |
16 | g.31091314G>T | CA395729993 | VKORC1 | c.312C>A (p.Val104=) c.373C>A (p.Pro125Thr) c.394C>A (p.Pro132Thr) c.202C>A (p.Pro68Thr) c.406C>A (p.Pro136Thr) c.274C>A c.-4C>A (n.-4C>A) c.409C>A (p.Pro137Thr) c.283+1998C>A (n.283+1998C>A) c.173+3243C>A (n.173+3243C>A) c.185C>A c.396C>A (p.Val132=) n.1100C>A | |
16 | g.31091315A= | CA2216889289 | VKORC1 | c.311T= (p.Val104=) c.372T= (p.Cys124=) c.393T= (p.Cys131=) c.201T= (p.Cys67=) c.405T= (p.Cys135=) c.273T= c.-5T= (n.-5T=) c.408T= (p.Cys136=) c.283+1997T= (n.283+1997T=) c.173+3242T= (n.173+3242T=) c.184T= c.395T= (p.Val132=) n.1099T= | |
16 | g.31091315A>C | CA395729995 | VKORC1 | c.311T>G (p.Val104Gly) c.372T>G (p.Cys124Trp) c.393T>G (p.Cys131Trp) c.201T>G (p.Cys67Trp) c.405T>G (p.Cys135Trp) c.273T>G c.-5T>G (n.-5T>G) c.408T>G (p.Cys136Trp) c.283+1997T>G (n.283+1997T>G) c.173+3242T>G (n.173+3242T>G) c.184T>G c.395T>G (p.Val132Gly) n.1099T>G | dbSNP gnomAD v2 gnomAD v4 |
16 | g.31091315A>G | CA395729996 | VKORC1 | c.311T>C (p.Val104Ala) c.372T>C (p.Cys124=) c.393T>C (p.Cys131=) c.201T>C (p.Cys67=) c.405T>C (p.Cys135=) c.273T>C c.-5T>C (n.-5T>C) c.408T>C (p.Cys136=) c.283+1997T>C (n.283+1997T>C) c.173+3242T>C (n.173+3242T>C) c.184T>C c.395T>C (p.Val132Ala) n.1099T>C | |
16 | g.31091315A>T | CA395729997 | VKORC1 | c.311T>A (p.Val104Asp) c.372T>A (p.Cys124Ter) c.393T>A (p.Cys131Ter) c.201T>A (p.Cys67Ter) c.405T>A (p.Cys135Ter) c.273T>A c.-5T>A (n.-5T>A) c.408T>A (p.Cys136Ter) c.283+1997T>A (n.283+1997T>A) c.173+3242T>A (n.173+3242T>A) c.184T>A c.395T>A (p.Val132Asp) n.1099T>A | |
16 | g.31091316C>A | CA395730000 | VKORC1 | c.310G>T (p.Val104Phe) c.371G>T (p.Cys124Phe) c.392G>T (p.Cys131Phe) c.200G>T (p.Cys67Phe) c.404G>T (p.Cys135Phe) c.272G>T c.-6G>T (n.-6G>T) c.407G>T (p.Cys136Phe) c.283+1996G>T (n.283+1996G>T) c.173+3241G>T (n.173+3241G>T) c.183G>T c.394G>T (p.Val132Phe) n.1098G>T | |
16 | g.31091316C>G | CA395730001 | VKORC1 | c.310G>C (p.Val104Leu) c.371G>C (p.Cys124Ser) c.392G>C (p.Cys131Ser) c.200G>C (p.Cys67Ser) c.404G>C (p.Cys135Ser) c.272G>C c.-6G>C (n.-6G>C) c.407G>C (p.Cys136Ser) c.283+1996G>C (n.283+1996G>C) c.173+3241G>C (n.173+3241G>C) c.183G>C c.394G>C (p.Val132Leu) n.1098G>C | |
16 | g.31091316C>T | CA395730003 | VKORC1 | c.310G>A (p.Val104Ile) c.371G>A (p.Cys124Tyr) c.392G>A (p.Cys131Tyr) c.200G>A (p.Cys67Tyr) c.404G>A (p.Cys135Tyr) c.272G>A c.-6G>A (n.-6G>A) c.407G>A (p.Cys136Tyr) c.283+1996G>A (n.283+1996G>A) c.173+3241G>A (n.173+3241G>A) c.183G>A c.394G>A (p.Val132Ile) n.1098G>A | |
16 | g.31091317A>C | CA395730005 | VKORC1 | c.309T>G (p.Ser103=) c.370T>G (p.Cys124Gly) c.391T>G (p.Cys131Gly) c.199T>G (p.Cys67Gly) c.403T>G (p.Cys135Gly) c.271T>G c.-7T>G (n.-7T>G) c.406T>G (p.Cys136Gly) c.283+1995T>G (n.283+1995T>G) c.173+3240T>G (n.173+3240T>G) c.182T>G c.393T>G (p.Ser131=) n.1097T>G | |
16 | g.31091317A>G | CA395730006 | VKORC1 | c.309T>C (p.Ser103=) c.370T>C (p.Cys124Arg) c.391T>C (p.Cys131Arg) c.199T>C (p.Cys67Arg) c.403T>C (p.Cys135Arg) c.271T>C c.-7T>C (n.-7T>C) c.406T>C (p.Cys136Arg) c.283+1995T>C (n.283+1995T>C) c.173+3240T>C (n.173+3240T>C) c.182T>C c.393T>C (p.Ser131=) n.1097T>C | |
16 | g.31091317A>T | CA395730007 | VKORC1 | c.309T>A (p.Ser103=) c.370T>A (p.Cys124Ser) c.391T>A (p.Cys131Ser) c.199T>A (p.Cys67Ser) c.403T>A (p.Cys135Ser) c.271T>A c.-7T>A (n.-7T>A) c.406T>A (p.Cys136Ser) c.283+1995T>A (n.283+1995T>A) c.173+3240T>A (n.173+3240T>A) c.182T>A c.393T>A (p.Ser131=) n.1097T>A | |
16 | g.31091318G>A | CA395730012 | VKORC1 | c.308C>T (p.Ser103Phe) c.369C>T (p.Leu123=) c.390C>T (p.Leu130=) c.198C>T (p.Leu66=) c.402C>T (p.Leu134=) c.270C>T c.-8C>T (n.-8C>T) c.405C>T (p.Leu135=) c.283+1994C>T (n.283+1994C>T) c.173+3239C>T (n.173+3239C>T) c.181C>T c.392C>T (p.Ser131Phe) n.1096C>T | |
16 | g.31091318G>C | CA395730011 | VKORC1 | c.308C>G (p.Ser103Cys) c.369C>G (p.Leu123=) c.390C>G (p.Leu130=) c.198C>G (p.Leu66=) c.402C>G (p.Leu134=) c.270C>G c.-8C>G (n.-8C>G) c.405C>G (p.Leu135=) c.283+1994C>G (n.283+1994C>G) c.173+3239C>G (n.173+3239C>G) c.181C>G c.392C>G (p.Ser131Cys) n.1096C>G | |
16 | g.31091318G>T | CA395730009 | VKORC1 | c.308C>A (p.Ser103Tyr) c.369C>A (p.Leu123=) c.390C>A (p.Leu130=) c.198C>A (p.Leu66=) c.402C>A (p.Leu134=) c.270C>A c.-8C>A (n.-8C>A) c.405C>A (p.Leu135=) c.283+1994C>A (n.283+1994C>A) c.173+3239C>A (n.173+3239C>A) c.181C>A c.392C>A (p.Ser131Tyr) n.1096C>A | gnomAD v4 |
16 | g.31091319A>C | CA395730014 | VKORC1 | c.307T>G (p.Ser103Ala) c.368T>G (p.Leu123Arg) c.389T>G (p.Leu130Arg) c.197T>G (p.Leu66Arg) c.401T>G (p.Leu134Arg) c.269T>G c.-9T>G (n.-9T>G) c.404T>G (p.Leu135Arg) c.283+1993T>G (n.283+1993T>G) c.173+3238T>G (n.173+3238T>G) c.180T>G c.391T>G (p.Ser131Ala) n.1095T>G | |
16 | g.31091319A>G | CA395730016 | VKORC1 | c.307T>C (p.Ser103Pro) c.368T>C (p.Leu123Pro) c.389T>C (p.Leu130Pro) c.197T>C (p.Leu66Pro) c.401T>C (p.Leu134Pro) c.269T>C c.-9T>C (n.-9T>C) c.404T>C (p.Leu135Pro) c.283+1993T>C (n.283+1993T>C) c.173+3238T>C (n.173+3238T>C) c.180T>C c.391T>C (p.Ser131Pro) n.1095T>C | |
16 | g.31091319A>T | CA395730017 | VKORC1 | c.307T>A (p.Ser103Thr) c.368T>A (p.Leu123His) c.389T>A (p.Leu130His) c.197T>A (p.Leu66His) c.401T>A (p.Leu134His) c.269T>A c.-9T>A (n.-9T>A) c.404T>A (p.Leu135His) c.283+1993T>A (n.283+1993T>A) c.173+3238T>A (n.173+3238T>A) c.180T>A c.391T>A (p.Ser131Thr) n.1095T>A | |
16 | g.31091320G>A | CA395730018 | VKORC1 | c.306C>T (p.Ala102=) c.367C>T (p.Leu123Phe) c.388C>T (p.Leu130Phe) c.196C>T (p.Leu66Phe) c.400C>T (p.Leu134Phe) c.268C>T c.-10C>T (n.-10C>T) c.403C>T (p.Leu135Phe) c.283+1992C>T (n.283+1992C>T) c.173+3237C>T (n.173+3237C>T) c.179C>T c.390C>T (p.Ala130=) n.1094C>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.31091320G>C | CA395730019 | VKORC1 | c.306C>G (p.Ala102=) c.367C>G (p.Leu123Val) c.388C>G (p.Leu130Val) c.196C>G (p.Leu66Val) c.400C>G (p.Leu134Val) c.268C>G c.-10C>G (n.-10C>G) c.403C>G (p.Leu135Val) c.283+1992C>G (n.283+1992C>G) c.173+3237C>G (n.173+3237C>G) c.179C>G c.390C>G (p.Ala130=) n.1094C>G | |
16 | g.31091320G= | CA2216889292 | VKORC1 | c.306C= (p.Ala102=) c.367C= (p.Leu123=) c.388C= (p.Leu130=) c.196C= (p.Leu66=) c.400C= (p.Leu134=) c.268C= c.-10C= (n.-10C=) c.403C= (p.Leu135=) c.283+1992C= (n.283+1992C=) c.173+3237C= (n.173+3237C=) c.179C= c.390C= (p.Ala130=) n.1094C= | |
16 | g.31091320G>T | CA395730020 | VKORC1 | c.306C>A (p.Ala102=) c.367C>A (p.Leu123Ile) c.388C>A (p.Leu130Ile) c.196C>A (p.Leu66Ile) c.400C>A (p.Leu134Ile) c.268C>A c.-10C>A (n.-10C>A) c.403C>A (p.Leu135Ile) c.283+1992C>A (n.283+1992C>A) c.173+3237C>A (n.173+3237C>A) c.179C>A c.390C>A (p.Ala130=) n.1094C>A | |
16 | g.31091321G>A | CA395730021 | VKORC1 | c.305C>T (p.Ala102Val) c.366C>T (p.Gly122=) c.387C>T (p.Gly129=) c.195C>T (p.Gly65=) c.399C>T (p.Gly133=) c.267C>T c.-11C>T (n.-11C>T) c.402C>T (p.Gly134=) c.283+1991C>T (n.283+1991C>T) c.173+3236C>T (n.173+3236C>T) c.178C>T c.389C>T (p.Ala130Val) n.1093C>T | |
16 | g.31091321G>C | CA395730022 | VKORC1 | c.305C>G (p.Ala102Gly) c.366C>G (p.Gly122=) c.387C>G (p.Gly129=) c.195C>G (p.Gly65=) c.399C>G (p.Gly133=) c.267C>G c.-11C>G (n.-11C>G) c.402C>G (p.Gly134=) c.283+1991C>G (n.283+1991C>G) c.173+3236C>G (n.173+3236C>G) c.178C>G c.389C>G (p.Ala130Gly) n.1093C>G | |
16 | g.31091321G>T | CA395730024 | VKORC1 | c.305C>A (p.Ala102Asp) c.366C>A (p.Gly122=) c.387C>A (p.Gly129=) c.195C>A (p.Gly65=) c.399C>A (p.Gly133=) c.267C>A c.-11C>A (n.-11C>A) c.402C>A (p.Gly134=) c.283+1991C>A (n.283+1991C>A) c.173+3236C>A (n.173+3236C>A) c.178C>A c.389C>A (p.Ala130Asp) n.1093C>A | |
16 | g.31091322C>A | CA395730026 | VKORC1 | c.304G>T (p.Ala102Ser) c.365G>T (p.Gly122Val) c.386G>T (p.Gly129Val) c.194G>T (p.Gly65Val) c.398G>T (p.Gly133Val) c.266G>T c.-12G>T (n.-12G>T) c.401G>T (p.Gly134Val) c.283+1990G>T (n.283+1990G>T) c.173+3235G>T (n.173+3235G>T) c.177G>T c.388G>T (p.Ala130Ser) n.1092G>T | |
16 | g.31091322C>G | CA395730028 | VKORC1 | c.304G>C (p.Ala102Pro) c.365G>C (p.Gly122Ala) c.386G>C (p.Gly129Ala) c.194G>C (p.Gly65Ala) c.398G>C (p.Gly133Ala) c.266G>C c.-12G>C (n.-12G>C) c.401G>C (p.Gly134Ala) c.283+1990G>C (n.283+1990G>C) c.173+3235G>C (n.173+3235G>C) c.177G>C c.388G>C (p.Ala130Pro) n.1092G>C | |
16 | g.31091322C>T | CA395730029 | VKORC1 | c.304G>A (p.Ala102Thr) c.365G>A (p.Gly122Asp) c.386G>A (p.Gly129Asp) c.194G>A (p.Gly65Asp) c.398G>A (p.Gly133Asp) c.266G>A c.-12G>A (n.-12G>A) c.401G>A (p.Gly134Asp) c.283+1990G>A (n.283+1990G>A) c.173+3235G>A (n.173+3235G>A) c.177G>A c.388G>A (p.Ala130Thr) n.1092G>A | |
16 | g.31091324del | CA2632821551 | VKORC1 | c.304del (p.Ala102ProfsTer4) c.365del (p.Gly122AlafsTer?) c.386del (p.Gly129AlafsTer?) c.194del (p.Gly65AlafsTer?) c.398del (p.Gly133AlafsTer?) c.266del c.-12del (n.-12del) c.401del (p.Gly134AlafsTer?) c.283+1990del (n.283+1990del) c.173+3235del (n.173+3235del) c.177del c.388del (p.Ala130ProfsTer4) n.1092del | gnomAD v4 |
16 | g.31091323C>A | CA395730032 | VKORC1 | c.303G>T (p.Trp101Cys) c.364G>T (p.Gly122Cys) c.385G>T (p.Gly129Cys) c.193G>T (p.Gly65Cys) c.397G>T (p.Gly133Cys) c.265G>T c.-13G>T (n.-13G>T) c.400G>T (p.Gly134Cys) c.283+1989G>T (n.283+1989G>T) c.173+3234G>T (n.173+3234G>T) c.176G>T c.387G>T (p.Trp129Cys) n.1091G>T | |
16 | g.31091323C= | CA2216889298 | VKORC1 | c.303G= (p.Trp101=) c.364G= (p.Gly122=) c.385G= (p.Gly129=) c.193G= (p.Gly65=) c.397G= (p.Gly133=) c.265G= c.-13G= (n.-13G=) c.400G= (p.Gly134=) c.283+1989G= (n.283+1989G=) c.173+3234G= (n.173+3234G=) c.176G= c.387G= (p.Trp129=) n.1091G= | |
16 | g.31091323C>G | CA395730031 | VKORC1 | c.303G>C (p.Trp101Cys) c.364G>C (p.Gly122Arg) c.385G>C (p.Gly129Arg) c.193G>C (p.Gly65Arg) c.397G>C (p.Gly133Arg) c.265G>C c.-13G>C (n.-13G>C) c.400G>C (p.Gly134Arg) c.283+1989G>C (n.283+1989G>C) c.173+3234G>C (n.173+3234G>C) c.176G>C c.387G>C (p.Trp129Cys) n.1091G>C | |
16 | g.31091323C>T | CA395730030 | VKORC1 | c.303G>A (p.Trp101Ter) c.364G>A (p.Gly122Ser) c.385G>A (p.Gly129Ser) c.193G>A (p.Gly65Ser) c.397G>A (p.Gly133Ser) c.265G>A c.-13G>A (n.-13G>A) c.400G>A (p.Gly134Ser) c.283+1989G>A (n.283+1989G>A) c.173+3234G>A (n.173+3234G>A) c.176G>A c.387G>A (p.Trp129Ter) n.1091G>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.31091324C>A | CA395730034 | VKORC1 | c.302G>T (p.Trp101Leu) c.363G>T (p.Leu121=) c.384G>T (p.Leu128=) c.192G>T (p.Leu64=) c.396G>T (p.Leu132=) c.264G>T c.-14G>T (n.-14G>T) c.399G>T (p.Leu133=) c.283+1988G>T (n.283+1988G>T) c.173+3233G>T (n.173+3233G>T) c.175G>T c.386G>T (p.Trp129Leu) n.1090G>T | |
16 | g.31091324C>G | CA395730037 | VKORC1 | c.302G>C (p.Trp101Ser) c.363G>C (p.Leu121=) c.384G>C (p.Leu128=) c.192G>C (p.Leu64=) c.396G>C (p.Leu132=) c.264G>C c.-14G>C (n.-14G>C) c.399G>C (p.Leu133=) c.283+1988G>C (n.283+1988G>C) c.173+3233G>C (n.173+3233G>C) c.175G>C c.386G>C (p.Trp129Ser) n.1090G>C | |
16 | g.31091324C>T | CA395730035 | VKORC1 | c.302G>A (p.Trp101Ter) c.363G>A (p.Leu121=) c.384G>A (p.Leu128=) c.192G>A (p.Leu64=) c.396G>A (p.Leu132=) c.264G>A c.-14G>A (n.-14G>A) c.399G>A (p.Leu133=) c.283+1988G>A (n.283+1988G>A) c.173+3233G>A (n.173+3233G>A) c.175G>A c.386G>A (p.Trp129Ter) n.1090G>A | |
16 | g.31091325A>C | CA395730039 | VKORC1 | c.301T>G (p.Trp101Gly) c.362T>G (p.Leu121Arg) c.383T>G (p.Leu128Arg) c.191T>G (p.Leu64Arg) c.395T>G (p.Leu132Arg) c.263T>G c.-15T>G (n.-15T>G) c.398T>G (p.Leu133Arg) c.283+1987T>G (n.283+1987T>G) c.173+3232T>G (n.173+3232T>G) c.174T>G c.385T>G (p.Trp129Gly) n.1089T>G | |
16 | g.31091325A>G | CA395730041 | VKORC1 | c.301T>C (p.Trp101Arg) c.362T>C (p.Leu121Pro) c.383T>C (p.Leu128Pro) c.191T>C (p.Leu64Pro) c.395T>C (p.Leu132Pro) c.263T>C c.-15T>C (n.-15T>C) c.398T>C (p.Leu133Pro) c.283+1987T>C (n.283+1987T>C) c.173+3232T>C (n.173+3232T>C) c.174T>C c.385T>C (p.Trp129Arg) n.1089T>C | |
16 | g.31091325A>T | CA395730042 | VKORC1 | c.301T>A (p.Trp101Arg) c.362T>A (p.Leu121Gln) c.383T>A (p.Leu128Gln) c.191T>A (p.Leu64Gln) c.395T>A (p.Leu132Gln) c.263T>A c.-15T>A (n.-15T>A) c.398T>A (p.Leu133Gln) c.283+1987T>A (n.283+1987T>A) c.173+3232T>A (n.173+3232T>A) c.174T>A c.385T>A (p.Trp129Arg) n.1089T>A | |
16 | g.31091326G>A | CA494926036 | VKORC1 | c.300C>T (p.Arg100=) c.361C>T (p.Leu121=) c.382C>T (p.Leu128=) c.190C>T (p.Leu64=) c.394C>T (p.Leu132=) c.262C>T c.-16C>T (n.-16C>T) c.397C>T (p.Leu133=) c.283+1986C>T (n.283+1986C>T) c.173+3231C>T (n.173+3231C>T) c.173C>T c.384C>T (p.Arg128=) n.1088C>T | |
16 | g.31091326G>C | CA395730044 | VKORC1 | c.300C>G (p.Arg100=) c.361C>G (p.Leu121Val) c.382C>G (p.Leu128Val) c.190C>G (p.Leu64Val) c.394C>G (p.Leu132Val) c.262C>G c.-16C>G (n.-16C>G) c.397C>G (p.Leu133Val) c.283+1986C>G (n.283+1986C>G) c.173+3231C>G (n.173+3231C>G) c.173C>G c.384C>G (p.Arg128=) n.1088C>G | |
16 | g.31091326G>T | CA395730046 | VKORC1 | c.300C>A (p.Arg100=) c.361C>A (p.Leu121Met) c.382C>A (p.Leu128Met) c.190C>A (p.Leu64Met) c.394C>A (p.Leu132Met) c.262C>A c.-16C>A (n.-16C>A) c.397C>A (p.Leu133Met) c.283+1986C>A (n.283+1986C>A) c.173+3231C>A (n.173+3231C>A) c.173C>A c.384C>A (p.Arg128=) n.1088C>A | gnomAD v4 |
16 | g.31091327C>A | CA395730048 | VKORC1 | c.299G>T (p.Arg100Leu) c.360G>T (p.Thr120=) c.381G>T (p.Thr127=) c.189G>T (p.Thr63=) c.393G>T (p.Thr131=) c.261G>T c.-17G>T (n.-17G>T) c.396G>T (p.Thr132=) c.283+1985G>T (n.283+1985G>T) c.173+3230G>T (n.173+3230G>T) c.172G>T c.383G>T (p.Arg128Leu) n.1087G>T | gnomAD v4 |
16 | g.31091327C= | CA2216889300 | VKORC1 | c.299G= (p.Arg100=) c.360G= (p.Thr120=) c.381G= (p.Thr127=) c.189G= (p.Thr63=) c.393G= (p.Thr131=) c.261G= c.-17G= (n.-17G=) c.396G= (p.Thr132=) c.283+1985G= (n.283+1985G=) c.173+3230G= (n.173+3230G=) c.172G= c.383G= (p.Arg128=) n.1087G= | |
16 | g.31091327C>G | CA395730050 | VKORC1 | c.299G>C (p.Arg100Pro) c.360G>C (p.Thr120=) c.381G>C (p.Thr127=) c.189G>C (p.Thr63=) c.393G>C (p.Thr131=) c.261G>C c.-17G>C (n.-17G>C) c.396G>C (p.Thr132=) c.283+1985G>C (n.283+1985G>C) c.173+3230G>C (n.173+3230G>C) c.172G>C c.383G>C (p.Arg128Pro) n.1087G>C | |
16 | g.31091327C>T | CA395730052 | VKORC1 | c.299G>A (p.Arg100His) c.360G>A (p.Thr120=) c.381G>A (p.Thr127=) c.189G>A (p.Thr63=) c.393G>A (p.Thr131=) c.261G>A c.-17G>A (n.-17G>A) c.396G>A (p.Thr132=) c.283+1985G>A (n.283+1985G>A) c.173+3230G>A (n.173+3230G>A) c.172G>A c.383G>A (p.Arg128His) n.1087G>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.31091328G>A | CA8021133 | VKORC1 | c.298C>T (p.Arg100Cys) c.359C>T (p.Thr120Met) c.380C>T (p.Thr127Met) c.188C>T (p.Thr63Met) c.392C>T (p.Thr131Met) c.260C>T c.-18C>T (n.-18C>T) c.395C>T (p.Thr132Met) c.283+1984C>T (n.283+1984C>T) c.173+3229C>T (n.173+3229C>T) c.171C>T c.382C>T (p.Arg128Cys) n.1086C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.31091328G>C | CA395730054 | VKORC1 | c.298C>G (p.Arg100Gly) c.359C>G (p.Thr120Arg) c.380C>G (p.Thr127Arg) c.188C>G (p.Thr63Arg) c.392C>G (p.Thr131Arg) c.260C>G c.-18C>G (n.-18C>G) c.395C>G (p.Thr132Arg) c.283+1984C>G (n.283+1984C>G) c.173+3229C>G (n.173+3229C>G) c.171C>G c.382C>G (p.Arg128Gly) n.1086C>G | |
16 | g.31091328G= | CA2216889304 | VKORC1 | c.298C= (p.Arg100=) c.359C= (p.Thr120=) c.380C= (p.Thr127=) c.188C= (p.Thr63=) c.392C= (p.Thr131=) c.260C= c.-18C= (n.-18C=) c.395C= (p.Thr132=) c.283+1984C= (n.283+1984C=) c.173+3229C= (n.173+3229C=) c.171C= c.382C= (p.Arg128=) n.1086C= | |
16 | g.31091328G>T | CA395730056 | VKORC1 | c.298C>A (p.Arg100Ser) c.359C>A (p.Thr120Lys) c.380C>A (p.Thr127Lys) c.188C>A (p.Thr63Lys) c.392C>A (p.Thr131Lys) c.260C>A c.-18C>A (n.-18C>A) c.395C>A (p.Thr132Lys) c.283+1984C>A (n.283+1984C>A) c.173+3229C>A (n.173+3229C>A) c.171C>A c.382C>A (p.Arg128Ser) n.1086C>A | |
16 | g.31091329T>A | CA395730061 | VKORC1 | c.297A>T (p.Thr99=) c.358A>T (p.Thr120Ser) c.379A>T (p.Thr127Ser) c.187A>T (p.Thr63Ser) c.391A>T (p.Thr131Ser) c.259A>T c.-19A>T (n.-19A>T) c.394A>T (p.Thr132Ser) c.283+1983A>T (n.283+1983A>T) c.173+3228A>T (n.173+3228A>T) c.170A>T c.381A>T (p.Thr127=) n.1085A>T | |
16 | g.31091329T>C | CA395730059 | VKORC1 | c.297A>G (p.Thr99=) c.358A>G (p.Thr120Ala) c.379A>G (p.Thr127Ala) c.187A>G (p.Thr63Ala) c.391A>G (p.Thr131Ala) c.259A>G c.-19A>G (n.-19A>G) c.394A>G (p.Thr132Ala) c.283+1983A>G (n.283+1983A>G) c.173+3228A>G (n.173+3228A>G) c.170A>G c.381A>G (p.Thr127=) n.1085A>G | |
16 | g.31091329T>G | CA395730057 | VKORC1 | c.297A>C (p.Thr99=) c.358A>C (p.Thr120Pro) c.379A>C (p.Thr127Pro) c.187A>C (p.Thr63Pro) c.391A>C (p.Thr131Pro) c.259A>C c.-19A>C (n.-19A>C) c.394A>C (p.Thr132Pro) c.283+1983A>C (n.283+1983A>C) c.173+3228A>C (n.173+3228A>C) c.170A>C c.381A>C (p.Thr127=) n.1085A>C | |
16 | g.31091330G>A | CA395730063 | VKORC1 | c.296C>T (p.Thr99Ile) c.357C>T (p.Asp119=) c.378C>T (p.Asp126=) c.186C>T (p.Asp62=) c.390C>T (p.Asp130=) c.258C>T c.-20C>T (n.-20C>T) c.393C>T (p.Asp131=) c.283+1982C>T (n.283+1982C>T) c.173+3227C>T (n.173+3227C>T) c.169C>T c.380C>T (p.Thr127Ile) n.1084C>T | |
16 | g.31091330G>C | CA280620007 | VKORC1 | c.296C>G (p.Thr99Arg) c.357C>G (p.Asp119Glu) c.378C>G (p.Asp126Glu) c.186C>G (p.Asp62Glu) c.390C>G (p.Asp130Glu) c.258C>G c.-20C>G (n.-20C>G) c.393C>G (p.Asp131Glu) c.283+1982C>G (n.283+1982C>G) c.173+3227C>G (n.173+3227C>G) c.169C>G c.380C>G (p.Thr127Arg) n.1084C>G | dbSNP gnomAD v4 |
16 | g.31091330G= | CA2216889306 | VKORC1 | c.296C= (p.Thr99=) c.357C= (p.Asp119=) c.378C= (p.Asp126=) c.186C= (p.Asp62=) c.390C= (p.Asp130=) c.258C= c.-20C= (n.-20C=) c.393C= (p.Asp131=) c.283+1982C= (n.283+1982C=) c.173+3227C= (n.173+3227C=) c.169C= c.380C= (p.Thr127=) n.1084C= | |
16 | g.31091330G>T | CA280620014 | VKORC1 | c.296C>A (p.Thr99Lys) c.357C>A (p.Asp119Glu) c.378C>A (p.Asp126Glu) c.186C>A (p.Asp62Glu) c.390C>A (p.Asp130Glu) c.258C>A c.-20C>A (n.-20C>A) c.393C>A (p.Asp131Glu) c.283+1982C>A (n.283+1982C>A) c.173+3227C>A (n.173+3227C>A) c.169C>A c.380C>A (p.Thr127Lys) n.1084C>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.31091331T>A | CA395730066 | VKORC1 | c.295A>T (p.Thr99Ser) c.356A>T (p.Asp119Val) c.377A>T (p.Asp126Val) c.185A>T (p.Asp62Val) c.389A>T (p.Asp130Val) c.257A>T c.-21A>T (n.-21A>T) c.392A>T (p.Asp131Val) c.283+1981A>T (n.283+1981A>T) c.173+3226A>T (n.173+3226A>T) c.168A>T c.379A>T (p.Thr127Ser) n.1083A>T | |
16 | g.31091331T>C | CA395730068 | VKORC1 | c.295A>G (p.Thr99Ala) c.356A>G (p.Asp119Gly) c.377A>G (p.Asp126Gly) c.185A>G (p.Asp62Gly) c.389A>G (p.Asp130Gly) c.257A>G c.-21A>G (n.-21A>G) c.392A>G (p.Asp131Gly) c.283+1981A>G (n.283+1981A>G) c.173+3226A>G (n.173+3226A>G) c.168A>G c.379A>G (p.Thr127Ala) n.1083A>G | |
16 | g.31091331T>G | CA395730069 | VKORC1 | c.295A>C (p.Thr99Pro) c.356A>C (p.Asp119Ala) c.377A>C (p.Asp126Ala) c.185A>C (p.Asp62Ala) c.389A>C (p.Asp130Ala) c.257A>C c.-21A>C (n.-21A>C) c.392A>C (p.Asp131Ala) c.283+1981A>C (n.283+1981A>C) c.173+3226A>C (n.173+3226A>C) c.168A>C c.379A>C (p.Thr127Pro) n.1083A>C | |
16 | g.31091332C>A | CA395730071 | VKORC1 | c.294G>T (p.Arg98=) c.355G>T (p.Asp119Tyr) c.376G>T (p.Asp126Tyr) c.184G>T (p.Asp62Tyr) c.388G>T (p.Asp130Tyr) c.256G>T c.-22G>T (n.-22G>T) c.391G>T (p.Asp131Tyr) c.283+1980G>T (n.283+1980G>T) c.173+3225G>T (n.173+3225G>T) c.167G>T c.378G>T (p.Arg126=) n.1082G>T | |
16 | g.31091332C>G | CA395730073 | VKORC1 | c.294G>C (p.Arg98=) c.355G>C (p.Asp119His) c.376G>C (p.Asp126His) c.184G>C (p.Asp62His) c.388G>C (p.Asp130His) c.256G>C c.-22G>C (n.-22G>C) c.391G>C (p.Asp131His) c.283+1980G>C (n.283+1980G>C) c.173+3225G>C (n.173+3225G>C) c.167G>C c.378G>C (p.Arg126=) n.1082G>C | |
16 | g.31091332C>T | CA395730074 | VKORC1 | c.294G>A (p.Arg98=) c.355G>A (p.Asp119Asn) c.376G>A (p.Asp126Asn) c.184G>A (p.Asp62Asn) c.388G>A (p.Asp130Asn) c.256G>A c.-22G>A (n.-22G>A) c.391G>A (p.Asp131Asn) c.283+1980G>A (n.283+1980G>A) c.173+3225G>A (n.173+3225G>A) c.167G>A c.378G>A (p.Arg126=) n.1082G>A | |
16 | g.31091333C>A | CA395730076 | VKORC1 | c.293G>T (p.Arg98Leu) c.354G>T (p.Ala118=) c.375G>T (p.Ala125=) c.183G>T (p.Ala61=) c.387G>T (p.Ala129=) c.255G>T c.-23G>T (n.-23G>T) c.390G>T (p.Ala130=) c.283+1979G>T (n.283+1979G>T) c.173+3224G>T (n.173+3224G>T) c.166G>T c.377G>T (p.Arg126Leu) n.1081G>T | |
16 | g.31091333C= | CA2216889308 | VKORC1 | c.293G= (p.Arg98=) c.354G= (p.Ala118=) c.375G= (p.Ala125=) c.183G= (p.Ala61=) c.387G= (p.Ala129=) c.255G= c.-23G= (n.-23G=) c.390G= (p.Ala130=) c.283+1979G= (n.283+1979G=) c.173+3224G= (n.173+3224G=) c.166G= c.377G= (p.Arg126=) n.1081G= | |
16 | g.31091333C>G | CA395730078 | VKORC1 | c.293G>C (p.Arg98Pro) c.354G>C (p.Ala118=) c.375G>C (p.Ala125=) c.183G>C (p.Ala61=) c.387G>C (p.Ala129=) c.255G>C c.-23G>C (n.-23G>C) c.390G>C (p.Ala130=) c.283+1979G>C (n.283+1979G>C) c.173+3224G>C (n.173+3224G>C) c.166G>C c.377G>C (p.Arg126Pro) n.1081G>C | dbSNP gnomAD v4 |
16 | g.31091333C>T | CA395730080 | VKORC1 | c.293G>A (p.Arg98Gln) c.354G>A (p.Ala118=) c.375G>A (p.Ala125=) c.183G>A (p.Ala61=) c.387G>A (p.Ala129=) c.255G>A c.-23G>A (n.-23G>A) c.390G>A (p.Ala130=) c.283+1979G>A (n.283+1979G>A) c.173+3224G>A (n.173+3224G>A) c.166G>A c.377G>A (p.Arg126Gln) n.1081G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.31091333_31091334delinsCG | CA2216889310 | VKORC1 | c.292_293delinsCG (p.Arg98=) c.353_354delinsCG (p.Ala118=) c.374_375delinsCG (p.Ala125=) c.182_183delinsCG (p.Ala61=) c.386_387delinsCG (p.Ala129=) c.254_255delinsCG c.-24_-23delinsCG (n.-24_-23delinsCG) c.389_390delinsCG (p.Ala130=) c.283+1978_283+1979delinsCG (n.283+1978_283+1979delinsCG) c.173+3223_173+3224delinsCG (n.173+3223_173+3224delinsCG) c.165_166delinsCG c.376_377delinsCG (p.Arg126=) n.1080_1081delinsCG | |
16 | g.31091334del | CA2216889316 | VKORC1 | c.292del (p.Arg98GlyfsTer8) c.353del (p.Ala118GlyfsTer?) c.374del (p.Ala125GlyfsTer?) c.182del (p.Ala61GlyfsTer?) c.386del (p.Ala129GlyfsTer?) c.254del c.-24del (n.-24del) c.389del (p.Ala130GlyfsTer?) c.283+1978del (n.283+1978del) c.173+3223del (n.173+3223del) c.165del c.376del (p.Arg126GlyfsTer8) n.1080del | dbSNP |
16 | g.31091334G>A | CA115411 | VKORC1 | c.292C>T (p.Arg98Trp) c.353C>T (p.Ala118Val) c.374C>T (p.Ala125Val) c.182C>T (p.Ala61Val) c.386C>T (p.Ala129Val) c.254C>T c.-24C>T (n.-24C>T) c.389C>T (p.Ala130Val) c.283+1978C>T (n.283+1978C>T) c.173+3223C>T (n.173+3223C>T) c.165C>T c.376C>T (p.Arg126Trp) n.1080C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.31091334G>C | CA8021134 | VKORC1 | c.292C>G (p.Arg98Gly) c.353C>G (p.Ala118Gly) c.374C>G (p.Ala125Gly) c.182C>G (p.Ala61Gly) c.386C>G (p.Ala129Gly) c.254C>G c.-24C>G (n.-24C>G) c.389C>G (p.Ala130Gly) c.283+1978C>G (n.283+1978C>G) c.173+3223C>G (n.173+3223C>G) c.165C>G c.376C>G (p.Arg126Gly) n.1080C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.31091334G= | CA2216889318 | VKORC1 | c.292C= (p.Arg98=) c.353C= (p.Ala118=) c.374C= (p.Ala125=) c.182C= (p.Ala61=) c.386C= (p.Ala129=) c.254C= c.-24C= (n.-24C=) c.389C= (p.Ala130=) c.283+1978C= (n.283+1978C=) c.173+3223C= (n.173+3223C=) c.165C= c.376C= (p.Arg126=) n.1080C= | |
16 | g.31091334G>T | CA395730082 | VKORC1 | c.292C>A (p.Arg98=) c.353C>A (p.Ala118Glu) c.374C>A (p.Ala125Glu) c.182C>A (p.Ala61Glu) c.386C>A (p.Ala129Glu) c.254C>A c.-24C>A (n.-24C>A) c.389C>A (p.Ala130Glu) c.283+1978C>A (n.283+1978C>A) c.173+3223C>A (n.173+3223C>A) c.165C>A c.376C>A (p.Arg126=) n.1080C>A | |
16 | g.31091335C>A | CA395730086 | VKORC1 | c.291G>T (p.Leu97=) c.352G>T (p.Ala118Ser) c.373G>T (p.Ala125Ser) c.181G>T (p.Ala61Ser) c.385G>T (p.Ala129Ser) c.253G>T c.-25G>T (n.-25G>T) c.388G>T (p.Ala130Ser) c.283+1977G>T (n.283+1977G>T) c.173+3222G>T (n.173+3222G>T) c.164G>T c.375G>T (p.Leu125=) n.1079G>T | |
16 | g.31091335C= | CA2216889323 | VKORC1 | c.291G= (p.Leu97=) c.352G= (p.Ala118=) c.373G= (p.Ala125=) c.181G= (p.Ala61=) c.385G= (p.Ala129=) c.253G= c.-25G= (n.-25G=) c.388G= (p.Ala130=) c.283+1977G= (n.283+1977G=) c.173+3222G= (n.173+3222G=) c.164G= c.375G= (p.Leu125=) n.1079G= | |
16 | g.31091335C>G | CA395730088 | VKORC1 | c.291G>C (p.Leu97=) c.352G>C (p.Ala118Pro) c.373G>C (p.Ala125Pro) c.181G>C (p.Ala61Pro) c.385G>C (p.Ala129Pro) c.253G>C c.-25G>C (n.-25G>C) c.388G>C (p.Ala130Pro) c.283+1977G>C (n.283+1977G>C) c.173+3222G>C (n.173+3222G>C) c.164G>C c.375G>C (p.Leu125=) n.1079G>C | |
16 | g.31091335C>T | CA8021135 | VKORC1 | c.291G>A (p.Leu97=) c.352G>A (p.Ala118Thr) c.373G>A (p.Ala125Thr) c.181G>A (p.Ala61Thr) c.385G>A (p.Ala129Thr) c.253G>A c.-25G>A (n.-25G>A) c.388G>A (p.Ala130Thr) c.283+1977G>A (n.283+1977G>A) c.173+3222G>A (n.173+3222G>A) c.164G>A c.375G>A (p.Leu125=) n.1079G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.31091336A>C | CA395730090 | VKORC1 | c.290T>G (p.Leu97Arg) c.351T>G (p.Pro117=) c.372T>G (p.Pro124=) c.180T>G (p.Pro60=) c.384T>G (p.Pro128=) c.252T>G c.-26T>G (n.-26T>G) c.387T>G (p.Pro129=) c.283+1976T>G (n.283+1976T>G) c.173+3221T>G (n.173+3221T>G) c.163T>G c.374T>G (p.Leu125Arg) n.1078T>G | |
16 | g.31091336A>G | CA395730092 | VKORC1 | c.290T>C (p.Leu97Pro) c.351T>C (p.Pro117=) c.372T>C (p.Pro124=) c.180T>C (p.Pro60=) c.384T>C (p.Pro128=) c.252T>C c.-26T>C (n.-26T>C) c.387T>C (p.Pro129=) c.283+1976T>C (n.283+1976T>C) c.173+3221T>C (n.173+3221T>C) c.163T>C c.374T>C (p.Leu125Pro) n.1078T>C | |
16 | g.31091336A>T | CA395730094 | VKORC1 | c.290T>A (p.Leu97Gln) c.351T>A (p.Pro117=) c.372T>A (p.Pro124=) c.180T>A (p.Pro60=) c.384T>A (p.Pro128=) c.252T>A c.-26T>A (n.-26T>A) c.387T>A (p.Pro129=) c.283+1976T>A (n.283+1976T>A) c.173+3221T>A (n.173+3221T>A) c.163T>A c.374T>A (p.Leu125Gln) n.1078T>A | |
16 | g.31091337G>A | CA8021136 | VKORC1 | c.289C>T (p.Leu97=) c.350C>T (p.Pro117Leu) c.371C>T (p.Pro124Leu) c.179C>T (p.Pro60Leu) c.383C>T (p.Pro128Leu) c.251C>T c.-27C>T (n.-27C>T) c.386C>T (p.Pro129Leu) c.283+1975C>T (n.283+1975C>T) c.173+3220C>T (n.173+3220C>T) c.162C>T c.373C>T (p.Leu125=) n.1077C>T | dbSNP ExAC gnomAD v2 |
16 | g.31091337G>C | CA395730096 | VKORC1 | c.289C>G (p.Leu97Val) c.350C>G (p.Pro117Arg) c.371C>G (p.Pro124Arg) c.179C>G (p.Pro60Arg) c.383C>G (p.Pro128Arg) c.251C>G c.-27C>G (n.-27C>G) c.386C>G (p.Pro129Arg) c.283+1975C>G (n.283+1975C>G) c.173+3220C>G (n.173+3220C>G) c.162C>G c.373C>G (p.Leu125Val) n.1077C>G | gnomAD v4 |
16 | g.31091337G= | CA2216889326 | VKORC1 | c.289C= (p.Leu97=) c.350C= (p.Pro117=) c.371C= (p.Pro124=) c.179C= (p.Pro60=) c.383C= (p.Pro128=) c.251C= c.-27C= (n.-27C=) c.386C= (p.Pro129=) c.283+1975C= (n.283+1975C=) c.173+3220C= (n.173+3220C=) c.162C= c.373C= (p.Leu125=) n.1077C= | |
16 | g.31091337G>T | CA395730099 | VKORC1 | c.289C>A (p.Leu97Met) c.350C>A (p.Pro117His) c.371C>A (p.Pro124His) c.179C>A (p.Pro60His) c.383C>A (p.Pro128His) c.251C>A c.-27C>A (n.-27C>A) c.386C>A (p.Pro129His) c.283+1975C>A (n.283+1975C>A) c.173+3220C>A (n.173+3220C>A) c.162C>A c.373C>A (p.Leu125Met) n.1077C>A | |
16 | g.31091338G>A | CA395730100 | VKORC1 | c.288C>T (p.Cys96=) c.349C>T (p.Pro117Ser) c.370C>T (p.Pro124Ser) c.178C>T (p.Pro60Ser) c.382C>T (p.Pro128Ser) c.250C>T c.-28C>T (n.-28C>T) c.385C>T (p.Pro129Ser) c.283+1974C>T (n.283+1974C>T) c.173+3219C>T (n.173+3219C>T) c.161C>T c.372C>T (p.Cys124=) n.1076C>T | gnomAD v4 |
16 | g.31091338G>C | CA395730102 | VKORC1 | c.288C>G (p.Cys96Trp) c.349C>G (p.Pro117Ala) c.370C>G (p.Pro124Ala) c.178C>G (p.Pro60Ala) c.382C>G (p.Pro128Ala) c.250C>G c.-28C>G (n.-28C>G) c.385C>G (p.Pro129Ala) c.283+1974C>G (n.283+1974C>G) c.173+3219C>G (n.173+3219C>G) c.161C>G c.372C>G (p.Cys124Trp) n.1076C>G | |
16 | g.31091338G>T | CA395730104 | VKORC1 | c.288C>A (p.Cys96Ter) c.349C>A (p.Pro117Thr) c.370C>A (p.Pro124Thr) c.178C>A (p.Pro60Thr) c.382C>A (p.Pro128Thr) c.250C>A c.-28C>A (n.-28C>A) c.385C>A (p.Pro129Thr) c.283+1974C>A (n.283+1974C>A) c.173+3219C>A (n.173+3219C>A) c.161C>A c.372C>A (p.Cys124Ter) n.1076C>A | |
16 | g.31091339C>A | CA395730108 | VKORC1 | c.287G>T (p.Cys96Phe) c.348G>T (p.Leu116Phe) c.369G>T (p.Leu123Phe) c.177G>T (p.Leu59Phe) c.381G>T (p.Leu127Phe) c.249G>T c.-29G>T (n.-29G>T) c.384G>T (p.Leu128Phe) c.283+1973G>T (n.283+1973G>T) c.173+3218G>T (n.173+3218G>T) c.160G>T c.371G>T (p.Cys124Phe) n.1075G>T | |
16 | g.31091339C>G | CA395730109 | VKORC1 | c.287G>C (p.Cys96Ser) c.348G>C (p.Leu116Phe) c.369G>C (p.Leu123Phe) c.177G>C (p.Leu59Phe) c.381G>C (p.Leu127Phe) c.249G>C c.-29G>C (n.-29G>C) c.384G>C (p.Leu128Phe) c.283+1973G>C (n.283+1973G>C) c.173+3218G>C (n.173+3218G>C) c.160G>C c.371G>C (p.Cys124Ser) n.1075G>C | |
16 | g.31091339C>T | CA395730106 | VKORC1 | c.287G>A (p.Cys96Tyr) c.348G>A (p.Leu116=) c.369G>A (p.Leu123=) c.177G>A (p.Leu59=) c.381G>A (p.Leu127=) c.249G>A c.-29G>A (n.-29G>A) c.384G>A (p.Leu128=) c.283+1973G>A (n.283+1973G>A) c.173+3218G>A (n.173+3218G>A) c.160G>A c.371G>A (p.Cys124Tyr) n.1075G>A | |
16 | g.31091340A>C | CA395730111 | VKORC1 | c.286T>G (p.Cys96Gly) c.347T>G (p.Leu116Trp) c.368T>G (p.Leu123Trp) c.176T>G (p.Leu59Trp) c.380T>G (p.Leu127Trp) c.248T>G c.-30T>G (n.-30T>G) c.383T>G (p.Leu128Trp) c.283+1972T>G (n.283+1972T>G) c.173+3217T>G (n.173+3217T>G) c.159T>G c.370T>G (p.Cys124Gly) n.1074T>G | |
16 | g.31091340A>G | CA395730113 | VKORC1 | c.286T>C (p.Cys96Arg) c.347T>C (p.Leu116Ser) c.368T>C (p.Leu123Ser) c.176T>C (p.Leu59Ser) c.380T>C (p.Leu127Ser) c.248T>C c.-30T>C (n.-30T>C) c.383T>C (p.Leu128Ser) c.283+1972T>C (n.283+1972T>C) c.173+3217T>C (n.173+3217T>C) c.159T>C c.370T>C (p.Cys124Arg) n.1074T>C | |
16 | g.31091340A>T | CA395730114 | VKORC1 | c.286T>A (p.Cys96Ser) c.347T>A (p.Leu116Ter) c.368T>A (p.Leu123Ter) c.176T>A (p.Leu59Ter) c.380T>A (p.Leu127Ter) c.248T>A c.-30T>A (n.-30T>A) c.383T>A (p.Leu128Ter) c.283+1972T>A (n.283+1972T>A) c.173+3217T>A (n.173+3217T>A) c.159T>A c.370T>A (p.Cys124Ser) n.1074T>A | |
16 | g.31091341A= | CA2216889329 | VKORC1 | c.285T= (p.Gly95=) c.346T= (p.Leu116=) c.367T= (p.Leu123=) c.175T= (p.Leu59=) c.379T= (p.Leu127=) c.247T= c.-31T= (n.-31T=) c.382T= (p.Leu128=) c.283+1971T= (n.283+1971T=) c.173+3216T= (n.173+3216T=) c.158T= c.369T= (p.Arg123=) n.1073T= | |
16 | g.31091341A>C | CA395730116 | VKORC1 | c.285T>G (p.Gly95=) c.346T>G (p.Leu116Val) c.367T>G (p.Leu123Val) c.175T>G (p.Leu59Val) c.379T>G (p.Leu127Val) c.247T>G c.-31T>G (n.-31T>G) c.382T>G (p.Leu128Val) c.283+1971T>G (n.283+1971T>G) c.173+3216T>G (n.173+3216T>G) c.158T>G c.369T>G (p.Arg123=) n.1073T>G | |
16 | g.31091341A>G | CA494926044 | VKORC1 | c.285T>C (p.Gly95=) c.346T>C (p.Leu116=) c.367T>C (p.Leu123=) c.175T>C (p.Leu59=) c.379T>C (p.Leu127=) c.247T>C c.-31T>C (n.-31T>C) c.382T>C (p.Leu128=) c.283+1971T>C (n.283+1971T>C) c.173+3216T>C (n.173+3216T>C) c.158T>C c.369T>C (p.Arg123=) n.1073T>C | |
16 | g.31091341A>T | CA395730118 | VKORC1 | c.285T>A (p.Gly95=) c.346T>A (p.Leu116Met) c.367T>A (p.Leu123Met) c.175T>A (p.Leu59Met) c.379T>A (p.Leu127Met) c.247T>A c.-31T>A (n.-31T>A) c.382T>A (p.Leu128Met) c.283+1971T>A (n.283+1971T>A) c.173+3216T>A (n.173+3216T>A) c.158T>A c.369T>A (p.Arg123=) n.1073T>A | |
16 | g.31091342C>A | CA395730123 | VKORC1 | c.284G>T (p.Gly95Val) c.345G>T (p.Arg115Ser) c.366G>T (p.Ala122=) c.174G>T (p.Arg58Ser) c.378G>T (p.Arg126Ser) c.246G>T c.-32G>T (n.-32G>T) c.381G>T (p.Arg127Ser) c.283+1970G>T (n.283+1970G>T) c.173+3215G>T (n.173+3215G>T) c.157G>T c.368G>T (p.Arg123Leu) n.1072G>T | gnomAD v4 |
16 | g.31091342C>G | CA395730120 | VKORC1 | c.284G>C (p.Gly95Ala) c.345G>C (p.Arg115Ser) c.366G>C (p.Ala122=) c.174G>C (p.Arg58Ser) c.378G>C (p.Arg126Ser) c.246G>C c.-32G>C (n.-32G>C) c.381G>C (p.Arg127Ser) c.283+1970G>C (n.283+1970G>C) c.173+3215G>C (n.173+3215G>C) c.157G>C c.368G>C (p.Arg123Pro) n.1072G>C | |
16 | g.31091342C>T | CA395730122 | VKORC1 | c.284G>A (p.Gly95Asp) c.345G>A (p.Arg115=) c.366G>A (p.Ala122=) c.174G>A (p.Arg58=) c.378G>A (p.Arg126=) c.246G>A c.-32G>A (n.-32G>A) c.381G>A (p.Arg127=) c.283+1970G>A (n.283+1970G>A) c.173+3215G>A (n.173+3215G>A) c.157G>A c.368G>A (p.Arg123His) n.1072G>A | |
16 | g.31091343dup | CA2216889331 | VKORC1 | c.284dup c.345dup c.366dup c.174dup c.378dup c.246dup c.-32dup c.381dup c.283+1970dup (n.283+1970dup) c.173+3215dup (n.173+3215dup) c.157dup c.368dup n.1072dup | dbSNP |
16 | g.31091343C>A | CA8021137 | VKORC1 | c.284-1G>T (n.284-1G>T) c.345-1G>T (n.345-1G>T) c.366-1G>T (n.366-1G>T) c.174-1G>T (n.174-1G>T) c.378-1G>T (n.378-1G>T) c.246-1G>T c.-32-1G>T (n.-32-1G>T) c.381-1G>T (n.381-1G>T) c.283+1969G>T (n.283+1969G>T) c.173+3214G>T (n.173+3214G>T) c.157-1G>T c.368-1G>T (n.368-1G>T) n.1072-1G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.31091343C= | CA2216889333 | VKORC1 | c.284-1G= (n.284-1G=) c.345-1G= (n.345-1G=) c.366-1G= (n.366-1G=) c.174-1G= (n.174-1G=) c.378-1G= (n.378-1G=) c.246-1G= c.-32-1G= (n.-32-1G=) c.381-1G= (n.381-1G=) c.283+1969G= (n.283+1969G=) c.173+3214G= (n.173+3214G=) c.157-1G= c.368-1G= (n.368-1G=) n.1072-1G= | |
16 | g.31091343C>G | CA395730125 | VKORC1 | c.284-1G>C (n.284-1G>C) c.345-1G>C (n.345-1G>C) c.366-1G>C (n.366-1G>C) c.174-1G>C (n.174-1G>C) c.378-1G>C (n.378-1G>C) c.246-1G>C c.-32-1G>C (n.-32-1G>C) c.381-1G>C (n.381-1G>C) c.283+1969G>C (n.283+1969G>C) c.173+3214G>C (n.173+3214G>C) c.157-1G>C c.368-1G>C (n.368-1G>C) n.1072-1G>C | |
16 | g.31091343C>T | CA395730127 | VKORC1 | c.284-1G>A (n.284-1G>A) c.345-1G>A (n.345-1G>A) c.366-1G>A (n.366-1G>A) c.174-1G>A (n.174-1G>A) c.378-1G>A (n.378-1G>A) c.246-1G>A c.-32-1G>A (n.-32-1G>A) c.381-1G>A (n.381-1G>A) c.283+1969G>A (n.283+1969G>A) c.173+3214G>A (n.173+3214G>A) c.157-1G>A c.368-1G>A (n.368-1G>A) n.1072-1G>A |