Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.57765115_57765131del | CA645584541 | CYP27B1 | n.582_598del c.751_767del (p.Ala251CysfsTer?) c.728_744del (p.Arg243LeufsTer6) c.670_686del (p.Ala224CysfsTer?) c.-36_-20del (n.-36_-20del) c.582_598del n.809_825del n.470_486del | COSMIC |
12 | g.57765118A>C | CA385505344 | CYP27B1 | n.595T>G c.764T>G (p.Val255Gly) c.741T>G (p.Gly247=) c.683T>G (p.Val228Gly) c.-23T>G (n.-23T>G) c.595T>G n.822T>G n.483T>G | |
12 | g.57765118A>G | CA385505343 | CYP27B1 | n.595T>C c.764T>C (p.Val255Ala) c.741T>C (p.Gly247=) c.683T>C (p.Val228Ala) c.-23T>C (n.-23T>C) c.595T>C n.822T>C n.483T>C | |
12 | g.57765118A>T | CA385505342 | CYP27B1 | n.595T>A c.764T>A (p.Val255Glu) c.741T>A (p.Gly247=) c.683T>A (p.Val228Glu) c.-23T>A (n.-23T>A) c.595T>A n.822T>A n.483T>A | |
12 | g.57765119C>A | CA385505345 | CYP27B1 | n.594G>T c.763G>T (p.Val255Leu) c.740G>T (p.Gly247Val) c.682G>T (p.Val228Leu) c.-24G>T (n.-24G>T) c.594G>T n.821G>T n.482G>T | |
12 | g.57765119C= | CA2038988776 | CYP27B1 | n.594G= c.763G= (p.Val255=) c.740G= (p.Gly247=) c.682G= (p.Val228=) c.-24G= (n.-24G=) c.594G= n.821G= n.482G= | |
12 | g.57765119C>G | CA385505347 | CYP27B1 | n.594G>C c.763G>C (p.Val255Leu) c.740G>C (p.Gly247Ala) c.682G>C (p.Val228Leu) c.-24G>C (n.-24G>C) c.594G>C n.821G>C n.482G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.57765119C>T | CA385505346 | CYP27B1 | n.594G>A c.763G>A (p.Val255Met) c.740G>A (p.Gly247Asp) c.682G>A (p.Val228Met) c.-24G>A (n.-24G>A) c.594G>A n.821G>A n.482G>A | |
12 | g.57765120C>A | CA480402983 | CYP27B1 | n.593G>T c.762G>T (p.Ser254=) c.739G>T (p.Gly247Cys) c.681G>T (p.Ser227=) c.-25G>T (n.-25G>T) c.593G>T n.820G>T n.481G>T | |
12 | g.57765120C= | CA2038988783 | CYP27B1 | n.593G= c.762G= (p.Ser254=) c.739G= (p.Gly247=) c.681G= (p.Ser227=) c.-25G= (n.-25G=) c.593G= n.820G= n.481G= | |
12 | g.57765120C>G | CA480402986 | CYP27B1 | n.593G>C c.762G>C (p.Ser254=) c.739G>C (p.Gly247Arg) c.681G>C (p.Ser227=) c.-25G>C (n.-25G>C) c.593G>C n.820G>C n.481G>C | gnomAD v4 |
12 | g.57765120C>T | CA6658356 | CYP27B1 | n.593G>A c.762G>A (p.Ser254=) c.739G>A (p.Gly247Ser) c.681G>A (p.Ser227=) c.-25G>A (n.-25G>A) c.593G>A n.820G>A n.481G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.57765121G>A | CA385505350 | CYP27B1 | n.592C>T c.761C>T (p.Ser254Leu) c.738C>T (p.Leu246=) c.680C>T (p.Ser227Leu) c.-26C>T (n.-26C>T) c.592C>T n.819C>T n.480C>T | gnomAD v4 |
12 | g.57765121G>C | CA385505348 | CYP27B1 | n.592C>G c.761C>G (p.Ser254Trp) c.738C>G (p.Leu246=) c.680C>G (p.Ser227Trp) c.-26C>G (n.-26C>G) c.592C>G n.819C>G n.480C>G | |
12 | g.57765121G>T | CA385505349 | CYP27B1 | n.592C>A c.761C>A (p.Ser254Ter) c.738C>A (p.Leu246=) c.680C>A (p.Ser227Ter) c.-26C>A (n.-26C>A) c.592C>A n.819C>A n.480C>A | |
12 | g.57765122A>C | CA385505351 | CYP27B1 | n.591T>G c.760T>G (p.Ser254Ala) c.737T>G (p.Leu246Arg) c.679T>G (p.Ser227Ala) c.-27T>G (n.-27T>G) c.591T>G n.818T>G n.479T>G | |
12 | g.57765122A>G | CA385505352 | CYP27B1 | n.591T>C c.760T>C (p.Ser254Pro) c.737T>C (p.Leu246Pro) c.679T>C (p.Ser227Pro) c.-27T>C (n.-27T>C) c.591T>C n.818T>C n.479T>C | |
12 | g.57765122A>T | CA385505353 | CYP27B1 | n.591T>A c.760T>A (p.Ser254Thr) c.737T>A (p.Leu246His) c.679T>A (p.Ser227Thr) c.-27T>A (n.-27T>A) c.591T>A n.818T>A n.479T>A | |
12 | g.57765123G>A | CA6658357 | CYP27B1 | n.590C>T c.759C>T (p.Gly253=) c.736C>T (p.Leu246Phe) c.678C>T (p.Gly226=) c.-28C>T (n.-28C>T) c.590C>T n.817C>T n.478C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.57765123G>C | CA480403010 | CYP27B1 | n.590C>G c.759C>G (p.Gly253=) c.736C>G (p.Leu246Val) c.678C>G (p.Gly226=) c.-28C>G (n.-28C>G) c.590C>G n.817C>G n.478C>G | |
12 | g.57765123G= | CA2038988785 | CYP27B1 | n.590C= c.759C= (p.Gly253=) c.736C= (p.Leu246=) c.678C= (p.Gly226=) c.-28C= (n.-28C=) c.590C= n.817C= n.478C= | |
12 | g.57765123G>T | CA480403012 | CYP27B1 | n.590C>A c.759C>A (p.Gly253=) c.736C>A (p.Leu246Ile) c.678C>A (p.Gly226=) c.-28C>A (n.-28C>A) c.590C>A n.817C>A n.478C>A | ClinVar |
12 | g.57765124C>A | CA385505354 | CYP27B1 | n.589G>T c.758G>T (p.Gly253Val) c.735G>T (p.Gly245=) c.677G>T (p.Gly226Val) c.-29G>T (n.-29G>T) c.589G>T n.816G>T n.477G>T | dbSNP |
12 | g.57765124C= | CA2038988795 | CYP27B1 | n.589G= c.758G= (p.Gly253=) c.735G= (p.Gly245=) c.677G= (p.Gly226=) c.-29G= (n.-29G=) c.589G= n.816G= n.477G= | |
12 | g.57765124C>G | CA385505355 | CYP27B1 | n.589G>C c.758G>C (p.Gly253Ala) c.735G>C (p.Gly245=) c.677G>C (p.Gly226Ala) c.-29G>C (n.-29G>C) c.589G>C n.816G>C n.477G>C | |
12 | g.57765124C>T | CA385505356 | CYP27B1 | n.589G>A c.758G>A (p.Gly253Asp) c.735G>A (p.Gly245=) c.677G>A (p.Gly226Asp) c.-29G>A (n.-29G>A) c.589G>A n.816G>A n.477G>A | |
12 | g.57765125C>A | CA385505357 | CYP27B1 | n.588G>T c.757G>T (p.Gly253Cys) c.734G>T (p.Gly245Val) c.676G>T (p.Gly226Cys) c.-30G>T (n.-30G>T) c.588G>T n.815G>T n.476G>T | |
12 | g.57765125C>G | CA385505358 | CYP27B1 | n.588G>C c.757G>C (p.Gly253Arg) c.734G>C (p.Gly245Ala) c.676G>C (p.Gly226Arg) c.-30G>C (n.-30G>C) c.588G>C n.815G>C n.476G>C | |
12 | g.57765125C>T | CA385505359 | CYP27B1 | n.588G>A c.757G>A (p.Gly253Ser) c.734G>A (p.Gly245Glu) c.676G>A (p.Gly226Ser) c.-30G>A (n.-30G>A) c.588G>A n.815G>A n.476G>A | |
12 | g.57765125_57765126insA | CA2796149712 | CYP27B1 | n.587_588insT c.756_757insT (p.Gly253TrpfsTer?) c.733_734insT (p.Gly245ValfsTer10) c.675_676insT (p.Gly226TrpfsTer?) c.-31_-30insT (n.-31_-30insT) c.587_588insT n.814_815insT n.475_476insT | |
12 | g.57765125_57765126insAAACACACCCAA | CA2796149713 | CYP27B1 | n.587_588insTTGGGTGTGTTT c.756_757insTTGGGTGTGTTT (p.Val252_Gly253insLeuGlyValPhe) c.733_734insTTGGGTGTGTTT (p.Gly245delinsValGlyCysValTrp) c.675_676insTTGGGTGTGTTT (p.Val225_Gly226insLeuGlyValPhe) c.-31_-30insTTGGGTGTGTTT (n.-31_-30insTTGGGTGTGTTT) c.587_588insTTGGGTGTGTTT n.814_815insTTGGGTGTGTTT n.475_476insTTGGGTGTGTTT | |
12 | g.57765126C>A | CA480403030 | CYP27B1 | n.587G>T c.756G>T (p.Val252=) c.733G>T (p.Gly245Trp) c.675G>T (p.Val225=) c.-31G>T (n.-31G>T) c.587G>T n.814G>T n.475G>T | |
12 | g.57765126C>G | CA480403025 | CYP27B1 | n.587G>C c.756G>C (p.Val252=) c.733G>C (p.Gly245Arg) c.675G>C (p.Val225=) c.-31G>C (n.-31G>C) c.587G>C n.814G>C n.475G>C | |
12 | g.57765126C>T | CA480403027 | CYP27B1 | n.587G>A c.756G>A (p.Val252=) c.733G>A (p.Gly245Arg) c.675G>A (p.Val225=) c.-31G>A (n.-31G>A) c.587G>A n.814G>A n.475G>A | |
12 | g.57765126_57765138delinsCACAGCGCGGATG | CA2038988798 | CYP27B1 | n.575_587delinsCATCCGCGCTGTG c.744_756delinsCATCCGCGCTGTG (p.Phe248=) c.721_733delinsCATCCGCGCTGTG (p.His241=) c.663_675delinsCATCCGCGCTGTG (p.Phe221=) c.-43_-31delinsCATCCGCGCTGTG (n.-43_-31delinsCATCCGCGCTGTG) c.575_587delinsCATCCGCGCTGTG n.802_814delinsCATCCGCGCTGTG n.463_475delinsCATCCGCGCTGTG | |
12 | g.57765126_57765127insCCG | CA2796149714 | CYP27B1 | n.586_587insCGG c.755_756insCGG (p.Val252_Gly253insGly) c.732_733insCGG (p.Cys244_Gly245insArg) c.674_675insCGG (p.Val225_Gly226insGly) c.-32_-31insCGG (n.-32_-31insCGG) c.586_587insCGG n.813_814insCGG n.474_475insCGG | |
12 | g.57765127A= | CA2038988804 | CYP27B1 | n.586T= c.755T= (p.Val252=) c.732T= (p.Cys244=) c.674T= (p.Val225=) c.-32T= (n.-32T=) c.586T= n.813T= n.474T= | |
12 | g.57765127A>C | CA385505360 | CYP27B1 | n.586T>G c.755T>G (p.Val252Gly) c.732T>G (p.Cys244Trp) c.674T>G (p.Val225Gly) c.-32T>G (n.-32T>G) c.586T>G n.813T>G n.474T>G | |
12 | g.57765127A>G | CA237814876 | CYP27B1 | n.586T>C c.755T>C (p.Val252Ala) c.732T>C (p.Cys244=) c.674T>C (p.Val225Ala) c.-32T>C (n.-32T>C) c.586T>C n.813T>C n.474T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.57765127A>T | CA385505361 | CYP27B1 | n.586T>A c.755T>A (p.Val252Glu) c.732T>A (p.Cys244Ter) c.674T>A (p.Val225Glu) c.-32T>A (n.-32T>A) c.586T>A n.813T>A n.474T>A | |
12 | g.57765128_57765139del | CA2038988807 | CYP27B1 | n.575_586del c.744_755del (p.Phe248_Val252delinsLeu) c.721_732del (p.His241_Cys244del) c.663_674del (p.Phe221_Val225delinsLeu) c.-43_-32del (n.-43_-32del) c.575_586del n.802_813del n.463_474del | dbSNP |
12 | g.57765128C>A | CA385505362 | CYP27B1 | n.585G>T c.754G>T (p.Val252Leu) c.731G>T (p.Cys244Phe) c.673G>T (p.Val225Leu) c.-33G>T (n.-33G>T) c.585G>T n.812G>T n.473G>T | |
12 | g.57765128C= | CA2038988815 | CYP27B1 | n.585G= c.754G= (p.Val252=) c.731G= (p.Cys244=) c.673G= (p.Val225=) c.-33G= (n.-33G=) c.585G= n.812G= n.473G= | |
12 | g.57765128C>G | CA385505363 | CYP27B1 | n.585G>C c.754G>C (p.Val252Leu) c.731G>C (p.Cys244Ser) c.673G>C (p.Val225Leu) c.-33G>C (n.-33G>C) c.585G>C n.812G>C n.473G>C | |
12 | g.57765128C>T | CA385505364 | CYP27B1 | n.585G>A c.754G>A (p.Val252Met) c.731G>A (p.Cys244Tyr) c.673G>A (p.Val225Met) c.-33G>A (n.-33G>A) c.585G>A n.812G>A n.473G>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.57765129A= | CA2038988819 | CYP27B1 | n.584T= c.753T= (p.Ala251=) c.730T= (p.Cys244=) c.672T= (p.Ala224=) c.-34T= (n.-34T=) c.584T= n.811T= n.472T= | |
12 | g.57765129A>C | CA480403044 | CYP27B1 | n.584T>G c.753T>G (p.Ala251=) c.730T>G (p.Cys244Gly) c.672T>G (p.Ala224=) c.-34T>G (n.-34T>G) c.584T>G n.811T>G n.472T>G | dbSNP |
12 | g.57765129A>G | CA480403045 | CYP27B1 | n.584T>C c.753T>C (p.Ala251=) c.730T>C (p.Cys244Arg) c.672T>C (p.Ala224=) c.-34T>C (n.-34T>C) c.584T>C n.811T>C n.472T>C | dbSNP |
12 | g.57765129A>T | CA480403048 | CYP27B1 | n.584T>A c.753T>A (p.Ala251=) c.730T>A (p.Cys244Ser) c.672T>A (p.Ala224=) c.-34T>A (n.-34T>A) c.584T>A n.811T>A n.472T>A | |
12 | g.57765130G>A | CA385505365 | CYP27B1 | n.583C>T c.752C>T (p.Ala251Val) c.729C>T (p.Arg243=) c.671C>T (p.Ala224Val) c.-35C>T (n.-35C>T) c.583C>T n.810C>T n.471C>T |