| 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 |