WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.31091234A>C | CA395729607 | VKORC1 | c.392T>G (p.Phe131Cys) c.*3T>G (n.*3T>G) c.354T>G c.77T>G (p.Phe26Cys) c.283+2078T>G (n.283+2078T>G) c.173+3323T>G (n.173+3323T>G) c.265T>G c.476T>G (p.Phe159Cys) n.1180T>G | |
| 16 | g.31091234A>G | CA395729609 | VKORC1 | c.392T>C (p.Phe131Ser) c.*3T>C (n.*3T>C) c.354T>C c.77T>C (p.Phe26Ser) c.283+2078T>C (n.283+2078T>C) c.173+3323T>C (n.173+3323T>C) c.265T>C c.476T>C (p.Phe159Ser) n.1180T>C | |
| 16 | g.31091234A>T | CA395729611 | VKORC1 | c.392T>A (p.Phe131Tyr) c.*3T>A (n.*3T>A) c.354T>A c.77T>A (p.Phe26Tyr) c.283+2078T>A (n.283+2078T>A) c.173+3323T>A (n.173+3323T>A) c.265T>A c.476T>A (p.Phe159Tyr) n.1180T>A | |
| 16 | g.31091235A>C | CA395729613 | VKORC1 | c.391T>G (p.Phe131Val) c.*2T>G (n.*2T>G) c.353T>G c.76T>G (p.Phe26Val) c.283+2077T>G (n.283+2077T>G) c.173+3322T>G (n.173+3322T>G) c.264T>G c.475T>G (p.Phe159Val) n.1179T>G | |
| 16 | g.31091235A>G | CA395729615 | VKORC1 | c.391T>C (p.Phe131Leu) c.*2T>C (n.*2T>C) c.353T>C c.76T>C (p.Phe26Leu) c.283+2077T>C (n.283+2077T>C) c.173+3322T>C (n.173+3322T>C) c.264T>C c.475T>C (p.Phe159Leu) n.1179T>C | |
| 16 | g.31091235A>T | CA395729617 | VKORC1 | c.391T>A (p.Phe131Ile) c.*2T>A (n.*2T>A) c.353T>A c.76T>A (p.Phe26Ile) c.283+2077T>A (n.283+2077T>A) c.173+3322T>A (n.173+3322T>A) c.264T>A c.475T>A (p.Phe159Ile) n.1179T>A | |
| 16 | g.31091236A= | CA2216889095 | VKORC1 | c.390T= (p.Asp130=) c.*1T= (n.*1T=) c.352T= c.75T= (p.Asp25=) c.283+2076T= (n.283+2076T=) c.173+3321T= (n.173+3321T=) c.263T= c.474T= (p.Asp158=) n.1178T= | |
| 16 | g.31091236A>C | CA8021123 | VKORC1 | c.390T>G (p.Asp130Glu) c.*1T>G (n.*1T>G) c.352T>G c.75T>G (p.Asp25Glu) c.283+2076T>G (n.283+2076T>G) c.173+3321T>G (n.173+3321T>G) c.263T>G c.474T>G (p.Asp158Glu) n.1178T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.31091236A>G | CA494925945 | VKORC1 | c.390T>C (p.Asp130=) c.*1T>C (n.*1T>C) c.352T>C c.75T>C (p.Asp25=) c.283+2076T>C (n.283+2076T>C) c.173+3321T>C (n.173+3321T>C) c.263T>C c.474T>C (p.Asp158=) n.1178T>C | |
| 16 | g.31091236A>T | CA395729619 | VKORC1 | c.390T>A (p.Asp130Glu) c.*1T>A (n.*1T>A) c.352T>A c.75T>A (p.Asp25Glu) c.283+2076T>A (n.283+2076T>A) c.173+3321T>A (n.173+3321T>A) c.263T>A c.474T>A (p.Asp158Glu) n.1178T>A | |
| 16 | g.31091237T>A | CA395729623 | VKORC1 | c.389A>T (p.Asp130Val) c.450A>T (p.Ter150Cys) c.471A>T (p.Ter157Cys) c.279A>T (p.Ter93Cys) c.483A>T (p.Ter161Cys) c.351A>T c.74A>T (p.Asp25Val) c.486A>T (p.Ter162Cys) c.283+2075A>T (n.283+2075A>T) c.173+3320A>T (n.173+3320A>T) c.262A>T c.473A>T (p.Asp158Val) n.1177A>T | |
| 16 | g.31091237T>C | CA395729625 | VKORC1 | c.389A>G (p.Asp130Gly) c.450A>G (p.Ter150Trp) c.471A>G (p.Ter157Trp) c.279A>G (p.Ter93Trp) c.483A>G (p.Ter161Trp) c.351A>G c.74A>G (p.Asp25Gly) c.486A>G (p.Ter162Trp) c.283+2075A>G (n.283+2075A>G) c.173+3320A>G (n.173+3320A>G) c.262A>G c.473A>G (p.Asp158Gly) n.1177A>G | |
| 16 | g.31091237T>G | CA395729622 | VKORC1 | c.389A>C (p.Asp130Ala) c.450A>C (p.Ter150Cys) c.471A>C (p.Ter157Cys) c.279A>C (p.Ter93Cys) c.483A>C (p.Ter161Cys) c.351A>C c.74A>C (p.Asp25Ala) c.486A>C (p.Ter162Cys) c.283+2075A>C (n.283+2075A>C) c.173+3320A>C (n.173+3320A>C) c.262A>C c.473A>C (p.Asp158Ala) n.1177A>C | |
| 16 | g.31091238C>A | CA395729628 | VKORC1 | c.388G>T (p.Asp130Tyr) c.449G>T (p.Ter150Leu) c.470G>T (p.Ter157Leu) c.278G>T (p.Ter93Leu) c.482G>T (p.Ter161Leu) c.350G>T c.73G>T (p.Asp25Tyr) c.485G>T (p.Ter162Leu) c.283+2074G>T (n.283+2074G>T) c.173+3319G>T (n.173+3319G>T) c.261G>T c.472G>T (p.Asp158Tyr) n.1176G>T | |
| 16 | g.31091238C>G | CA395729629 | VKORC1 | c.388G>C (p.Asp130His) c.449G>C (p.Ter150Ser) c.470G>C (p.Ter157Ser) c.278G>C (p.Ter93Ser) c.482G>C (p.Ter161Ser) c.350G>C c.73G>C (p.Asp25His) c.485G>C (p.Ter162Ser) c.283+2074G>C (n.283+2074G>C) c.173+3319G>C (n.173+3319G>C) c.261G>C c.472G>C (p.Asp158His) n.1176G>C | |
| 16 | g.31091238C>T | CA395729630 | VKORC1 | c.388G>A (p.Asp130Asn) c.449G>A (p.Ter150=) c.470G>A (p.Ter157=) c.278G>A (p.Ter93=) c.482G>A (p.Ter161=) c.350G>A c.73G>A (p.Asp25Asn) c.485G>A (p.Ter162=) c.283+2074G>A (n.283+2074G>A) c.173+3319G>A (n.173+3319G>A) c.261G>A c.472G>A (p.Asp158Asn) n.1176G>A | |
| 16 | g.31091239A>C | CA395729632 | VKORC1 | c.387T>G (p.Tyr129Ter) c.448T>G (p.Ter150Gly) c.469T>G (p.Ter157Gly) c.277T>G (p.Ter93Gly) c.481T>G (p.Ter161Gly) c.349T>G c.72T>G (p.Tyr24Ter) c.484T>G (p.Ter162Gly) c.283+2073T>G (n.283+2073T>G) c.173+3318T>G (n.173+3318T>G) c.260T>G c.471T>G (p.Tyr157Ter) n.1175T>G | |
| 16 | g.31091239A>G | CA395729634 | VKORC1 | c.387T>C (p.Tyr129=) c.448T>C (p.Ter150Arg) c.469T>C (p.Ter157Arg) c.277T>C (p.Ter93Arg) c.481T>C (p.Ter161Arg) c.349T>C c.72T>C (p.Tyr24=) c.484T>C (p.Ter162Arg) c.283+2073T>C (n.283+2073T>C) c.173+3318T>C (n.173+3318T>C) c.260T>C c.471T>C (p.Tyr157=) n.1175T>C | gnomAD v4 |
| 16 | g.31091239A>T | CA395729636 | VKORC1 | c.387T>A (p.Tyr129Ter) c.448T>A (p.Ter150Arg) c.469T>A (p.Ter157Arg) c.277T>A (p.Ter93Arg) c.481T>A (p.Ter161Arg) c.349T>A c.72T>A (p.Tyr24Ter) c.484T>A (p.Ter162Arg) c.283+2073T>A (n.283+2073T>A) c.173+3318T>A (n.173+3318T>A) c.260T>A c.471T>A (p.Tyr157Ter) n.1175T>A | |
| 16 | g.31091240_31091241del | CA2632821519 | VKORC1 | c.386_387del (p.Tyr129Ter) c.447_448del (p.Ter150IleextTer14) c.468_469del (p.Ter157IleextTer14) c.276_277del (p.Ter93IleextTer14) c.480_481del (p.Ter161IleextTer14) c.348_349del c.71_72del (p.Tyr24Ter) c.483_484del (p.Ter162IleextTer14) c.283+2072_283+2073del (n.283+2072_283+2073del) c.173+3317_173+3318del (n.173+3317_173+3318del) c.259_260del c.470_471del (p.Tyr157Ter) n.1174_1175del | gnomAD v4 |
| 16 | g.31091240T>A | CA395729641 | VKORC1 | c.386A>T (p.Tyr129Phe) c.447A>T (p.Leu149=) c.468A>T (p.Leu156=) c.276A>T (p.Leu92=) c.480A>T (p.Leu160=) c.348A>T c.71A>T (p.Tyr24Phe) c.483A>T (p.Leu161=) c.283+2072A>T (n.283+2072A>T) c.173+3317A>T (n.173+3317A>T) c.259A>T c.470A>T (p.Tyr157Phe) n.1174A>T | |
| 16 | g.31091240T>C | CA395729638 | VKORC1 | c.386A>G (p.Tyr129Cys) c.447A>G (p.Leu149=) c.468A>G (p.Leu156=) c.276A>G (p.Leu92=) c.480A>G (p.Leu160=) c.348A>G c.71A>G (p.Tyr24Cys) c.483A>G (p.Leu161=) c.283+2072A>G (n.283+2072A>G) c.173+3317A>G (n.173+3317A>G) c.259A>G c.470A>G (p.Tyr157Cys) n.1174A>G | dbSNP gnomAD v4 |
| 16 | g.31091240T>G | CA395729640 | VKORC1 | c.386A>C (p.Tyr129Ser) c.447A>C (p.Leu149=) c.468A>C (p.Leu156=) c.276A>C (p.Leu92=) c.480A>C (p.Leu160=) c.348A>C c.71A>C (p.Tyr24Ser) c.483A>C (p.Leu161=) c.283+2072A>C (n.283+2072A>C) c.173+3317A>C (n.173+3317A>C) c.259A>C c.470A>C (p.Tyr157Ser) n.1174A>C | gnomAD v4 |
| 16 | g.31091240T= | CA2216889100 | VKORC1 | c.386A= (p.Tyr129=) c.447A= (p.Leu149=) c.468A= (p.Leu156=) c.276A= (p.Leu92=) c.480A= (p.Leu160=) c.348A= c.71A= (p.Tyr24=) c.483A= (p.Leu161=) c.283+2072A= (n.283+2072A=) c.173+3317A= (n.173+3317A=) c.259A= c.470A= (p.Tyr157=) n.1174A= | |
| 16 | g.31091241A>C | CA395729642 | VKORC1 | c.385T>G (p.Tyr129Asp) c.446T>G (p.Leu149Arg) c.467T>G (p.Leu156Arg) c.275T>G (p.Leu92Arg) c.479T>G (p.Leu160Arg) c.347T>G c.70T>G (p.Tyr24Asp) c.482T>G (p.Leu161Arg) c.283+2071T>G (n.283+2071T>G) c.173+3316T>G (n.173+3316T>G) c.258T>G c.469T>G (p.Tyr157Asp) n.1173T>G | |
| 16 | g.31091241A>G | CA395729643 | VKORC1 | c.385T>C (p.Tyr129His) c.446T>C (p.Leu149Pro) c.467T>C (p.Leu156Pro) c.275T>C (p.Leu92Pro) c.479T>C (p.Leu160Pro) c.347T>C c.70T>C (p.Tyr24His) c.482T>C (p.Leu161Pro) c.283+2071T>C (n.283+2071T>C) c.173+3316T>C (n.173+3316T>C) c.258T>C c.469T>C (p.Tyr157His) n.1173T>C | |
| 16 | g.31091241A>T | CA395729645 | VKORC1 | c.385T>A (p.Tyr129Asn) c.446T>A (p.Leu149Gln) c.467T>A (p.Leu156Gln) c.275T>A (p.Leu92Gln) c.479T>A (p.Leu160Gln) c.347T>A c.70T>A (p.Tyr24Asn) c.482T>A (p.Leu161Gln) c.283+2071T>A (n.283+2071T>A) c.173+3316T>A (n.173+3316T>A) c.258T>A c.469T>A (p.Tyr157Asn) n.1173T>A | |
| 16 | g.31091242G>A | CA494925951 | VKORC1 | c.384C>T (p.Leu128=) c.445C>T (p.Leu149=) c.466C>T (p.Leu156=) c.274C>T (p.Leu92=) c.478C>T (p.Leu160=) c.346C>T c.69C>T (p.Leu23=) c.481C>T (p.Leu161=) c.283+2070C>T (n.283+2070C>T) c.173+3315C>T (n.173+3315C>T) c.257C>T c.468C>T (p.Leu156=) n.1172C>T | gnomAD v4 |
| 16 | g.31091242G>C | CA395729647 | VKORC1 | c.384C>G (p.Leu128=) c.445C>G (p.Leu149Val) c.466C>G (p.Leu156Val) c.274C>G (p.Leu92Val) c.478C>G (p.Leu160Val) c.346C>G c.69C>G (p.Leu23=) c.481C>G (p.Leu161Val) c.283+2070C>G (n.283+2070C>G) c.173+3315C>G (n.173+3315C>G) c.257C>G c.468C>G (p.Leu156=) n.1172C>G | |
| 16 | g.31091242G>T | CA395729649 | VKORC1 | c.384C>A (p.Leu128=) c.445C>A (p.Leu149Ile) c.466C>A (p.Leu156Ile) c.274C>A (p.Leu92Ile) c.478C>A (p.Leu160Ile) c.346C>A c.69C>A (p.Leu23=) c.481C>A (p.Leu161Ile) c.283+2070C>A (n.283+2070C>A) c.173+3315C>A (n.173+3315C>A) c.257C>A c.468C>A (p.Leu156=) n.1172C>A | |
| 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= |