UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.7803064_7803065delinsGT | CA1152038712 | PER3 | c.890_891delinsGT (p.Gly297=) c.887_888delinsGT (p.Gly296=) n.14_15delinsGT c.-68_-67delinsGT (n.-68_-67delinsGT) c.365_366delinsGT (p.Gly122=) c.722_723delinsGT (p.Gly241=) c.542_543delinsGT (p.Gly181=) c.527_528delinsGT (p.Gly176=) c.-376_-375delinsGT (n.-376_-375delinsGT) | |
| 1 | g.7803065T>A | CA415833997 | PER3 | c.891T>A (p.Gly297=) c.888T>A (p.Gly296=) n.15T>A c.-67T>A (n.-67T>A) c.366T>A (p.Gly122=) c.723T>A (p.Gly241=) c.543T>A (p.Gly181=) c.528T>A (p.Gly176=) c.-375T>A (n.-375T>A) | |
| 1 | g.7803065T>C | CA415833998 | PER3 | c.891T>C (p.Gly297=) c.888T>C (p.Gly296=) n.15T>C c.-67T>C (n.-67T>C) c.366T>C (p.Gly122=) c.723T>C (p.Gly241=) c.543T>C (p.Gly181=) c.528T>C (p.Gly176=) c.-375T>C (n.-375T>C) | gnomAD v4 |
| 1 | g.7803065T>G | CA415833999 | PER3 | c.891T>G (p.Gly297=) c.888T>G (p.Gly296=) n.15T>G c.-67T>G (n.-67T>G) c.366T>G (p.Gly122=) c.723T>G (p.Gly241=) c.543T>G (p.Gly181=) c.528T>G (p.Gly176=) c.-375T>G (n.-375T>G) | |
| 1 | g.7803066del | CA520784695 | PER3 | c.892del (p.Tyr298ThrfsTer6) c.889del (p.Tyr297ThrfsTer6) n.16del c.-66del (n.-66del) c.367del (p.Tyr123ThrfsTer6) c.724del (p.Tyr242ThrfsTer6) c.544del (p.Tyr182ThrfsTer6) c.529del (p.Tyr177ThrfsTer6) c.-374del (n.-374del) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.7803066T>A | CA338133403 | PER3 | c.892T>A (p.Tyr298Asn) c.889T>A (p.Tyr297Asn) n.16T>A c.-66T>A (n.-66T>A) c.367T>A (p.Tyr123Asn) c.724T>A (p.Tyr242Asn) c.544T>A (p.Tyr182Asn) c.529T>A (p.Tyr177Asn) c.-374T>A (n.-374T>A) | |
| 1 | g.7803066T>C | CA338133401 | PER3 | c.892T>C (p.Tyr298His) c.889T>C (p.Tyr297His) n.16T>C c.-66T>C (n.-66T>C) c.367T>C (p.Tyr123His) c.724T>C (p.Tyr242His) c.544T>C (p.Tyr182His) c.529T>C (p.Tyr177His) c.-374T>C (n.-374T>C) | dbSNP gnomAD v2 |
| 1 | g.7803066T>G | CA338133399 | PER3 | c.892T>G (p.Tyr298Asp) c.889T>G (p.Tyr297Asp) n.16T>G c.-66T>G (n.-66T>G) c.367T>G (p.Tyr123Asp) c.724T>G (p.Tyr242Asp) c.544T>G (p.Tyr182Asp) c.529T>G (p.Tyr177Asp) c.-374T>G (n.-374T>G) | |
| 1 | g.7803066T= | CA1152038713 | PER3 | c.892T= (p.Tyr298=) c.889T= (p.Tyr297=) n.16T= c.-66T= (n.-66T=) c.367T= (p.Tyr123=) c.724T= (p.Tyr242=) c.544T= (p.Tyr182=) c.529T= (p.Tyr177=) c.-374T= (n.-374T=) | |
| 1 | g.7803067A= | CA1152038714 | PER3 | c.893A= (p.Tyr298=) c.890A= (p.Tyr297=) n.17A= c.-65A= (n.-65A=) c.368A= (p.Tyr123=) c.725A= (p.Tyr242=) c.545A= (p.Tyr182=) c.530A= (p.Tyr177=) c.-373A= (n.-373A=) | |
| 1 | g.7803067A>C | CA338133407 | PER3 | c.893A>C (p.Tyr298Ser) c.890A>C (p.Tyr297Ser) n.17A>C c.-65A>C (n.-65A>C) c.368A>C (p.Tyr123Ser) c.725A>C (p.Tyr242Ser) c.545A>C (p.Tyr182Ser) c.530A>C (p.Tyr177Ser) c.-373A>C (n.-373A>C) | |
| 1 | g.7803067A>G | CA567915 | PER3 | c.893A>G (p.Tyr298Cys) c.890A>G (p.Tyr297Cys) n.17A>G c.-65A>G (n.-65A>G) c.368A>G (p.Tyr123Cys) c.725A>G (p.Tyr242Cys) c.545A>G (p.Tyr182Cys) c.530A>G (p.Tyr177Cys) c.-373A>G (n.-373A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.7803067A>T | CA338133415 | PER3 | c.893A>T (p.Tyr298Phe) c.890A>T (p.Tyr297Phe) n.17A>T c.-65A>T (n.-65A>T) c.368A>T (p.Tyr123Phe) c.725A>T (p.Tyr242Phe) c.545A>T (p.Tyr182Phe) c.530A>T (p.Tyr177Phe) c.-373A>T (n.-373A>T) | |
| 1 | g.7803068C>A | CA338133422 | PER3 | c.894C>A (p.Tyr298Ter) c.891C>A (p.Tyr297Ter) n.18C>A c.-64C>A (n.-64C>A) c.369C>A (p.Tyr123Ter) c.726C>A (p.Tyr242Ter) c.546C>A (p.Tyr182Ter) c.531C>A (p.Tyr177Ter) c.-372C>A (n.-372C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.7803068C= | CA1152038715 | PER3 | c.894C= (p.Tyr298=) c.891C= (p.Tyr297=) n.18C= c.-64C= (n.-64C=) c.369C= (p.Tyr123=) c.726C= (p.Tyr242=) c.546C= (p.Tyr182=) c.531C= (p.Tyr177=) c.-372C= (n.-372C=) | |
| 1 | g.7803068C>G | CA338133425 | PER3 | c.894C>G (p.Tyr298Ter) c.891C>G (p.Tyr297Ter) n.18C>G c.-64C>G (n.-64C>G) c.369C>G (p.Tyr123Ter) c.726C>G (p.Tyr242Ter) c.546C>G (p.Tyr182Ter) c.531C>G (p.Tyr177Ter) c.-372C>G (n.-372C>G) | |
| 1 | g.7803068C>T | CA415834006 | PER3 | c.894C>T (p.Tyr298=) c.891C>T (p.Tyr297=) n.18C>T c.-64C>T (n.-64C>T) c.369C>T (p.Tyr123=) c.726C>T (p.Tyr242=) c.546C>T (p.Tyr182=) c.531C>T (p.Tyr177=) c.-372C>T (n.-372C>T) | |
| 1 | g.7803069C>A | CA338133428 | PER3 | c.895C>A (p.Leu299Ile) c.892C>A (p.Leu298Ile) n.19C>A c.-63C>A (n.-63C>A) c.370C>A (p.Leu124Ile) c.727C>A (p.Leu243Ile) c.547C>A (p.Leu183Ile) c.532C>A (p.Leu178Ile) c.-371C>A (n.-371C>A) | |
| 1 | g.7803069C= | CA1152038716 | PER3 | c.895C= (p.Leu299=) c.892C= (p.Leu298=) n.19C= c.-63C= (n.-63C=) c.370C= (p.Leu124=) c.727C= (p.Leu243=) c.547C= (p.Leu183=) c.532C= (p.Leu178=) c.-371C= (n.-371C=) | |
| 1 | g.7803069C>G | CA338133432 | PER3 | c.895C>G (p.Leu299Val) c.892C>G (p.Leu298Val) n.19C>G c.-63C>G (n.-63C>G) c.370C>G (p.Leu124Val) c.727C>G (p.Leu243Val) c.547C>G (p.Leu183Val) c.532C>G (p.Leu178Val) c.-371C>G (n.-371C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.7803069C>T | CA415834008 | PER3 | c.895C>T (p.Leu299=) c.892C>T (p.Leu298=) n.19C>T c.-63C>T (n.-63C>T) c.370C>T (p.Leu124=) c.727C>T (p.Leu243=) c.547C>T (p.Leu183=) c.532C>T (p.Leu178=) c.-371C>T (n.-371C>T) | gnomAD v4 |
| 1 | g.7803070T>A | CA338133436 | PER3 | c.896T>A (p.Leu299Gln) c.893T>A (p.Leu298Gln) n.20T>A c.-62T>A (n.-62T>A) c.371T>A (p.Leu124Gln) c.728T>A (p.Leu243Gln) c.548T>A (p.Leu183Gln) c.533T>A (p.Leu178Gln) c.-370T>A (n.-370T>A) | |
| 1 | g.7803070T>C | CA338133438 | PER3 | c.896T>C (p.Leu299Pro) c.893T>C (p.Leu298Pro) n.20T>C c.-62T>C (n.-62T>C) c.371T>C (p.Leu124Pro) c.728T>C (p.Leu243Pro) c.548T>C (p.Leu183Pro) c.533T>C (p.Leu178Pro) c.-370T>C (n.-370T>C) | |
| 1 | g.7803070T>G | CA338133440 | PER3 | c.896T>G (p.Leu299Arg) c.893T>G (p.Leu298Arg) n.20T>G c.-62T>G (n.-62T>G) c.371T>G (p.Leu124Arg) c.728T>G (p.Leu243Arg) c.548T>G (p.Leu183Arg) c.533T>G (p.Leu178Arg) c.-370T>G (n.-370T>G) | |
| 1 | g.7803071A>C | CA415834013 | PER3 | c.897A>C (p.Leu299=) c.894A>C (p.Leu298=) n.21A>C c.-61A>C (n.-61A>C) c.372A>C (p.Leu124=) c.729A>C (p.Leu243=) c.549A>C (p.Leu183=) c.534A>C (p.Leu178=) c.-369A>C (n.-369A>C) | |
| 1 | g.7803071A>G | CA415834012 | PER3 | c.897A>G (p.Leu299=) c.894A>G (p.Leu298=) n.21A>G c.-61A>G (n.-61A>G) c.372A>G (p.Leu124=) c.729A>G (p.Leu243=) c.549A>G (p.Leu183=) c.534A>G (p.Leu178=) c.-369A>G (n.-369A>G) | |
| 1 | g.7803071A>T | CA415834011 | PER3 | c.897A>T (p.Leu299=) c.894A>T (p.Leu298=) n.21A>T c.-61A>T (n.-61A>T) c.372A>T (p.Leu124=) c.729A>T (p.Leu243=) c.549A>T (p.Leu183=) c.534A>T (p.Leu178=) c.-369A>T (n.-369A>T) | |
| 1 | g.7803072C>A | CA338133445 | PER3 | c.898C>A (p.Pro300Thr) c.895C>A (p.Pro299Thr) n.22C>A c.-60C>A (n.-60C>A) c.373C>A (p.Pro125Thr) c.730C>A (p.Pro244Thr) c.550C>A (p.Pro184Thr) c.535C>A (p.Pro179Thr) c.-368C>A (n.-368C>A) | |
| 1 | g.7803072C>G | CA338133449 | PER3 | c.898C>G (p.Pro300Ala) c.895C>G (p.Pro299Ala) n.22C>G c.-60C>G (n.-60C>G) c.373C>G (p.Pro125Ala) c.730C>G (p.Pro244Ala) c.550C>G (p.Pro184Ala) c.535C>G (p.Pro179Ala) c.-368C>G (n.-368C>G) | |
| 1 | g.7803072C>T | CA338133452 | PER3 | c.898C>T (p.Pro300Ser) c.895C>T (p.Pro299Ser) n.22C>T c.-60C>T (n.-60C>T) c.373C>T (p.Pro125Ser) c.730C>T (p.Pro244Ser) c.550C>T (p.Pro184Ser) c.535C>T (p.Pro179Ser) c.-368C>T (n.-368C>T) | |
| 1 | g.7803073C>A | CA338133470 | PER3 | c.899C>A (p.Pro300His) c.896C>A (p.Pro299His) n.23C>A c.-59C>A (n.-59C>A) c.374C>A (p.Pro125His) c.731C>A (p.Pro244His) c.551C>A (p.Pro184His) c.536C>A (p.Pro179His) c.-367C>A (n.-367C>A) | |
| 1 | g.7803073C= | CA1148876505 | PER3 | c.899C= (p.Pro300=) c.896C= (p.Pro299=) n.23C= c.-59C= (n.-59C=) c.374C= (p.Pro125=) c.731C= (p.Pro244=) c.551C= (p.Pro184=) c.536C= (p.Pro179=) c.-367C= (n.-367C=) | |
| 1 | g.7803073C>G | CA338133458 | PER3 | c.899C>G (p.Pro300Arg) c.896C>G (p.Pro299Arg) n.23C>G c.-59C>G (n.-59C>G) c.374C>G (p.Pro125Arg) c.731C>G (p.Pro244Arg) c.551C>G (p.Pro184Arg) c.536C>G (p.Pro179Arg) c.-367C>G (n.-367C>G) | |
| 1 | g.7803073C>T | CA567916 | PER3 | c.899C>T (p.Pro300Leu) c.896C>T (p.Pro299Leu) n.23C>T c.-59C>T (n.-59C>T) c.374C>T (p.Pro125Leu) c.731C>T (p.Pro244Leu) c.551C>T (p.Pro184Leu) c.536C>T (p.Pro179Leu) c.-367C>T (n.-367C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.7803074T>A | CA415834016 | PER3 | c.900T>A (p.Pro300=) c.897T>A (p.Pro299=) n.24T>A c.-58T>A (n.-58T>A) c.375T>A (p.Pro125=) c.732T>A (p.Pro244=) c.552T>A (p.Pro184=) c.537T>A (p.Pro179=) c.-366T>A (n.-366T>A) | |
| 1 | g.7803074T>C | CA415834020 | PER3 | c.900T>C (p.Pro300=) c.897T>C (p.Pro299=) n.24T>C c.-58T>C (n.-58T>C) c.375T>C (p.Pro125=) c.732T>C (p.Pro244=) c.552T>C (p.Pro184=) c.537T>C (p.Pro179=) c.-366T>C (n.-366T>C) | |
| 1 | g.7803074T>G | CA415834018 | PER3 | c.900T>G (p.Pro300=) c.897T>G (p.Pro299=) n.24T>G c.-58T>G (n.-58T>G) c.375T>G (p.Pro125=) c.732T>G (p.Pro244=) c.552T>G (p.Pro184=) c.537T>G (p.Pro179=) c.-366T>G (n.-366T>G) | |
| 1 | g.7803075C>A | CA338133476 | PER3 | c.901C>A (p.Gln301Lys) c.898C>A (p.Gln300Lys) n.25C>A c.-57C>A (n.-57C>A) c.376C>A (p.Gln126Lys) c.733C>A (p.Gln245Lys) c.553C>A (p.Gln185Lys) c.538C>A (p.Gln180Lys) c.-365C>A (n.-365C>A) | |
| 1 | g.7803075C>G | CA338133479 | PER3 | c.901C>G (p.Gln301Glu) c.898C>G (p.Gln300Glu) n.25C>G c.-57C>G (n.-57C>G) c.376C>G (p.Gln126Glu) c.733C>G (p.Gln245Glu) c.553C>G (p.Gln185Glu) c.538C>G (p.Gln180Glu) c.-365C>G (n.-365C>G) | |
| 1 | g.7803075C>T | CA338133483 | PER3 | c.901C>T (p.Gln301Ter) c.898C>T (p.Gln300Ter) n.25C>T c.-57C>T (n.-57C>T) c.376C>T (p.Gln126Ter) c.733C>T (p.Gln245Ter) c.553C>T (p.Gln185Ter) c.538C>T (p.Gln180Ter) c.-365C>T (n.-365C>T) | |
| 1 | g.7803076A>C | CA338133486 | PER3 | c.902A>C (p.Gln301Pro) c.899A>C (p.Gln300Pro) n.26A>C c.-56A>C (n.-56A>C) c.377A>C (p.Gln126Pro) c.734A>C (p.Gln245Pro) c.554A>C (p.Gln185Pro) c.539A>C (p.Gln180Pro) c.-364A>C (n.-364A>C) | |
| 1 | g.7803076A>G | CA338133489 | PER3 | c.902A>G (p.Gln301Arg) c.899A>G (p.Gln300Arg) n.26A>G c.-56A>G (n.-56A>G) c.377A>G (p.Gln126Arg) c.734A>G (p.Gln245Arg) c.554A>G (p.Gln185Arg) c.539A>G (p.Gln180Arg) c.-364A>G (n.-364A>G) | |
| 1 | g.7803076A>T | CA338133493 | PER3 | c.902A>T (p.Gln301Leu) c.899A>T (p.Gln300Leu) n.26A>T c.-56A>T (n.-56A>T) c.377A>T (p.Gln126Leu) c.734A>T (p.Gln245Leu) c.554A>T (p.Gln185Leu) c.539A>T (p.Gln180Leu) c.-364A>T (n.-364A>T) | |
| 1 | g.7803077G>A | CA415834027 | PER3 | c.903G>A (p.Gln301=) c.900G>A (p.Gln300=) n.27G>A c.-55G>A (n.-55G>A) c.378G>A (p.Gln126=) c.735G>A (p.Gln245=) c.555G>A (p.Gln185=) c.540G>A (p.Gln180=) c.-363G>A (n.-363G>A) | |
| 1 | g.7803077G>C | CA338133497 | PER3 | c.903G>C (p.Gln301His) c.900G>C (p.Gln300His) n.27G>C c.-55G>C (n.-55G>C) c.378G>C (p.Gln126His) c.735G>C (p.Gln245His) c.555G>C (p.Gln185His) c.540G>C (p.Gln180His) c.-363G>C (n.-363G>C) | |
| 1 | g.7803077G>T | CA338133498 | PER3 | c.903G>T (p.Gln301His) c.900G>T (p.Gln300His) n.27G>T c.-55G>T (n.-55G>T) c.378G>T (p.Gln126His) c.735G>T (p.Gln245His) c.555G>T (p.Gln185His) c.540G>T (p.Gln180His) c.-363G>T (n.-363G>T) | |
| 1 | g.7803078G>A | CA338133501 | PER3 | c.904G>A (p.Asp302Asn) c.901G>A (p.Asp301Asn) n.28G>A c.-54G>A (n.-54G>A) c.379G>A (p.Asp127Asn) c.736G>A (p.Asp246Asn) c.556G>A (p.Asp186Asn) c.541G>A (p.Asp181Asn) c.-362G>A (n.-362G>A) | |
| 1 | g.7803078G>C | CA338133502 | PER3 | c.904G>C (p.Asp302His) c.901G>C (p.Asp301His) n.28G>C c.-54G>C (n.-54G>C) c.379G>C (p.Asp127His) c.736G>C (p.Asp246His) c.556G>C (p.Asp186His) c.541G>C (p.Asp181His) c.-362G>C (n.-362G>C) | |
| 1 | g.7803078G>T | CA338133505 | PER3 | c.904G>T (p.Asp302Tyr) c.901G>T (p.Asp301Tyr) n.28G>T c.-54G>T (n.-54G>T) c.379G>T (p.Asp127Tyr) c.736G>T (p.Asp246Tyr) c.556G>T (p.Asp186Tyr) c.541G>T (p.Asp181Tyr) c.-362G>T (n.-362G>T) | |
| 1 | g.7803080_7803084del | CA2574197647 | PER3 | c.906_910del (p.Leu303TrpfsTer11) c.903_907del (p.Leu302TrpfsTer11) n.30_34del c.-52_-48del (n.-52_-48del) c.381_385del (p.Leu128TrpfsTer11) c.738_742del (p.Leu247TrpfsTer11) c.558_562del (p.Leu187TrpfsTer11) c.543_547del (p.Leu182TrpfsTer11) c.-360_-356del (n.-360_-356del) | gnomAD v4 |
| 1 | g.7803079A>C | CA338133518 | PER3 | c.905A>C (p.Asp302Ala) c.902A>C (p.Asp301Ala) n.29A>C c.-53A>C (n.-53A>C) c.380A>C (p.Asp127Ala) c.737A>C (p.Asp246Ala) c.557A>C (p.Asp186Ala) c.542A>C (p.Asp181Ala) c.-361A>C (n.-361A>C) | |
| 1 | g.7803079A>G | CA338133514 | PER3 | c.905A>G (p.Asp302Gly) c.902A>G (p.Asp301Gly) n.29A>G c.-53A>G (n.-53A>G) c.380A>G (p.Asp127Gly) c.737A>G (p.Asp246Gly) c.557A>G (p.Asp186Gly) c.542A>G (p.Asp181Gly) c.-361A>G (n.-361A>G) | |
| 1 | g.7803079A>T | CA338133511 | PER3 | c.905A>T (p.Asp302Val) c.902A>T (p.Asp301Val) n.29A>T c.-53A>T (n.-53A>T) c.380A>T (p.Asp127Val) c.737A>T (p.Asp246Val) c.557A>T (p.Asp186Val) c.542A>T (p.Asp181Val) c.-361A>T (n.-361A>T) | |
| 1 | g.7803080C>A | CA338133521 | PER3 | c.906C>A (p.Asp302Glu) c.903C>A (p.Asp301Glu) n.30C>A c.-52C>A (n.-52C>A) c.381C>A (p.Asp127Glu) c.738C>A (p.Asp246Glu) c.558C>A (p.Asp186Glu) c.543C>A (p.Asp181Glu) c.-360C>A (n.-360C>A) | |
| 1 | g.7803080C= | CA1143802509 | PER3 | c.906C= (p.Asp302=) c.903C= (p.Asp301=) n.30C= c.-52C= (n.-52C=) c.381C= (p.Asp127=) c.738C= (p.Asp246=) c.558C= (p.Asp186=) c.543C= (p.Asp181=) c.-360C= (n.-360C=) | |
| 1 | g.7803080C>G | CA567917 | PER3 | c.906C>G (p.Asp302Glu) c.903C>G (p.Asp301Glu) n.30C>G c.-52C>G (n.-52C>G) c.381C>G (p.Asp127Glu) c.738C>G (p.Asp246Glu) c.558C>G (p.Asp186Glu) c.543C>G (p.Asp181Glu) c.-360C>G (n.-360C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.7803080C>T | CA415834034 | PER3 | c.906C>T (p.Asp302=) c.903C>T (p.Asp301=) n.30C>T c.-52C>T (n.-52C>T) c.381C>T (p.Asp127=) c.738C>T (p.Asp246=) c.558C>T (p.Asp186=) c.543C>T (p.Asp181=) c.-360C>T (n.-360C>T) | gnomAD v4 |
| 1 | g.7803081C>A | CA338133527 | PER3 | c.907C>A (p.Leu303Met) c.904C>A (p.Leu302Met) n.31C>A c.-51C>A (n.-51C>A) c.382C>A (p.Leu128Met) c.739C>A (p.Leu247Met) c.559C>A (p.Leu187Met) c.544C>A (p.Leu182Met) c.-359C>A (n.-359C>A) | |
| 1 | g.7803081C>G | CA338133530 | PER3 | c.907C>G (p.Leu303Val) c.904C>G (p.Leu302Val) n.31C>G c.-51C>G (n.-51C>G) c.382C>G (p.Leu128Val) c.739C>G (p.Leu247Val) c.559C>G (p.Leu187Val) c.544C>G (p.Leu182Val) c.-359C>G (n.-359C>G) | |
| 1 | g.7803081C>T | CA415834036 | PER3 | c.907C>T (p.Leu303=) c.904C>T (p.Leu302=) n.31C>T c.-51C>T (n.-51C>T) c.382C>T (p.Leu128=) c.739C>T (p.Leu247=) c.559C>T (p.Leu187=) c.544C>T (p.Leu182=) c.-359C>T (n.-359C>T) | |
| 1 | g.7803082T>A | CA338133533 | PER3 | c.908T>A (p.Leu303Gln) c.905T>A (p.Leu302Gln) n.32T>A c.-50T>A (n.-50T>A) c.383T>A (p.Leu128Gln) c.740T>A (p.Leu247Gln) c.560T>A (p.Leu187Gln) c.545T>A (p.Leu182Gln) c.-358T>A (n.-358T>A) | |
| 1 | g.7803082T>C | CA338133534 | PER3 | c.908T>C (p.Leu303Pro) c.905T>C (p.Leu302Pro) n.32T>C c.-50T>C (n.-50T>C) c.383T>C (p.Leu128Pro) c.740T>C (p.Leu247Pro) c.560T>C (p.Leu187Pro) c.545T>C (p.Leu182Pro) c.-358T>C (n.-358T>C) | gnomAD v4 |
| 1 | g.7803082T>G | CA338133536 | PER3 | c.908T>G (p.Leu303Arg) c.905T>G (p.Leu302Arg) n.32T>G c.-50T>G (n.-50T>G) c.383T>G (p.Leu128Arg) c.740T>G (p.Leu247Arg) c.560T>G (p.Leu187Arg) c.545T>G (p.Leu182Arg) c.-358T>G (n.-358T>G) | |
| 1 | g.7803083G>A | CA415834037 | PER3 | c.909G>A (p.Leu303=) c.906G>A (p.Leu302=) n.33G>A c.-49G>A (n.-49G>A) c.384G>A (p.Leu128=) c.741G>A (p.Leu247=) c.561G>A (p.Leu187=) c.546G>A (p.Leu182=) c.-357G>A (n.-357G>A) | |
| 1 | g.7803083G>C | CA415834038 | PER3 | c.909G>C (p.Leu303=) c.906G>C (p.Leu302=) n.33G>C c.-49G>C (n.-49G>C) c.384G>C (p.Leu128=) c.741G>C (p.Leu247=) c.561G>C (p.Leu187=) c.546G>C (p.Leu182=) c.-357G>C (n.-357G>C) | |
| 1 | g.7803083G>T | CA415834039 | PER3 | c.909G>T (p.Leu303=) c.906G>T (p.Leu302=) n.33G>T c.-49G>T (n.-49G>T) c.384G>T (p.Leu128=) c.741G>T (p.Leu247=) c.561G>T (p.Leu187=) c.546G>T (p.Leu182=) c.-357G>T (n.-357G>T) | |
| 1 | g.7803084A>C | CA338133537 | PER3 | c.910A>C (p.Ile304Leu) c.907A>C (p.Ile303Leu) n.34A>C c.-48A>C (n.-48A>C) c.385A>C (p.Ile129Leu) c.742A>C (p.Ile248Leu) c.562A>C (p.Ile188Leu) c.547A>C (p.Ile183Leu) c.-356A>C (n.-356A>C) | |
| 1 | g.7803084A>G | CA338133541 | PER3 | c.910A>G (p.Ile304Val) c.907A>G (p.Ile303Val) n.34A>G c.-48A>G (n.-48A>G) c.385A>G (p.Ile129Val) c.742A>G (p.Ile248Val) c.562A>G (p.Ile188Val) c.547A>G (p.Ile183Val) c.-356A>G (n.-356A>G) | |
| 1 | g.7803084A>T | CA338133538 | PER3 | c.910A>T (p.Ile304Phe) c.907A>T (p.Ile303Phe) n.34A>T c.-48A>T (n.-48A>T) c.385A>T (p.Ile129Phe) c.742A>T (p.Ile248Phe) c.562A>T (p.Ile188Phe) c.547A>T (p.Ile183Phe) c.-356A>T (n.-356A>T) | |
| 1 | g.7803085T>A | CA567918 | PER3 | c.911T>A (p.Ile304Asn) c.908T>A (p.Ile303Asn) n.35T>A c.-47T>A (n.-47T>A) c.386T>A (p.Ile129Asn) c.743T>A (p.Ile248Asn) c.563T>A (p.Ile188Asn) c.548T>A (p.Ile183Asn) c.-355T>A (n.-355T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.7803085T>C | CA338133576 | PER3 | c.911T>C (p.Ile304Thr) c.908T>C (p.Ile303Thr) n.35T>C c.-47T>C (n.-47T>C) c.386T>C (p.Ile129Thr) c.743T>C (p.Ile248Thr) c.563T>C (p.Ile188Thr) c.548T>C (p.Ile183Thr) c.-355T>C (n.-355T>C) | dbSNP gnomAD v4 |
| 1 | g.7803085T>G | CA338133577 | PER3 | c.911T>G (p.Ile304Ser) c.908T>G (p.Ile303Ser) n.35T>G c.-47T>G (n.-47T>G) c.386T>G (p.Ile129Ser) c.743T>G (p.Ile248Ser) c.563T>G (p.Ile188Ser) c.548T>G (p.Ile183Ser) c.-355T>G (n.-355T>G) | |
| 1 | g.7803085T= | CA1152038717 | PER3 | c.911T= (p.Ile304=) c.908T= (p.Ile303=) n.35T= c.-47T= (n.-47T=) c.386T= (p.Ile129=) c.743T= (p.Ile248=) c.563T= (p.Ile188=) c.548T= (p.Ile183=) c.-355T= (n.-355T=) | |
| 1 | g.7803086T>A | CA415834040 | PER3 | c.912T>A (p.Ile304=) c.909T>A (p.Ile303=) n.36T>A c.-46T>A (n.-46T>A) c.387T>A (p.Ile129=) c.744T>A (p.Ile248=) c.564T>A (p.Ile188=) c.549T>A (p.Ile183=) c.-354T>A (n.-354T>A) | |
| 1 | g.7803086T>C | CA415834041 | PER3 | c.912T>C (p.Ile304=) c.909T>C (p.Ile303=) n.36T>C c.-46T>C (n.-46T>C) c.387T>C (p.Ile129=) c.744T>C (p.Ile248=) c.564T>C (p.Ile188=) c.549T>C (p.Ile183=) c.-354T>C (n.-354T>C) | gnomAD v4 |
| 1 | g.7803086T>G | CA338133579 | PER3 | c.912T>G (p.Ile304Met) c.909T>G (p.Ile303Met) n.36T>G c.-46T>G (n.-46T>G) c.387T>G (p.Ile129Met) c.744T>G (p.Ile248Met) c.564T>G (p.Ile188Met) c.549T>G (p.Ile183Met) c.-354T>G (n.-354T>G) | gnomAD v4 |
| 1 | g.7803087G>A | CA338133585 | PER3 | c.913G>A (p.Gly305Arg) c.910G>A (p.Gly304Arg) n.37G>A c.-45G>A (n.-45G>A) c.388G>A (p.Gly130Arg) c.745G>A (p.Gly249Arg) c.565G>A (p.Gly189Arg) c.550G>A (p.Gly184Arg) c.-353G>A (n.-353G>A) | dbSNP gnomAD v4 |
| 1 | g.7803087G>C | CA338133581 | PER3 | c.913G>C (p.Gly305Arg) c.910G>C (p.Gly304Arg) n.37G>C c.-45G>C (n.-45G>C) c.388G>C (p.Gly130Arg) c.745G>C (p.Gly249Arg) c.565G>C (p.Gly189Arg) c.550G>C (p.Gly184Arg) c.-353G>C (n.-353G>C) | |
| 1 | g.7803087G= | CA1152038718 | PER3 | c.913G= (p.Gly305=) c.910G= (p.Gly304=) n.37G= c.-45G= (n.-45G=) c.388G= (p.Gly130=) c.745G= (p.Gly249=) c.565G= (p.Gly189=) c.550G= (p.Gly184=) c.-353G= (n.-353G=) | |
| 1 | g.7803087G>T | CA338133582 | PER3 | c.913G>T (p.Gly305Ter) c.910G>T (p.Gly304Ter) n.37G>T c.-45G>T (n.-45G>T) c.388G>T (p.Gly130Ter) c.745G>T (p.Gly249Ter) c.565G>T (p.Gly189Ter) c.550G>T (p.Gly184Ter) c.-353G>T (n.-353G>T) | |
| 1 | g.7803088G>A | CA338133590 | PER3 | c.914G>A (p.Gly305Glu) c.911G>A (p.Gly304Glu) n.38G>A c.-44G>A (n.-44G>A) c.389G>A (p.Gly130Glu) c.746G>A (p.Gly249Glu) c.566G>A (p.Gly189Glu) c.551G>A (p.Gly184Glu) c.-352G>A (n.-352G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.7803088G>C | CA338133591 | PER3 | c.914G>C (p.Gly305Ala) c.911G>C (p.Gly304Ala) n.38G>C c.-44G>C (n.-44G>C) c.389G>C (p.Gly130Ala) c.746G>C (p.Gly249Ala) c.566G>C (p.Gly189Ala) c.551G>C (p.Gly184Ala) c.-352G>C (n.-352G>C) | |
| 1 | g.7803088G= | CA1152038719 | PER3 | c.914G= (p.Gly305=) c.911G= (p.Gly304=) n.38G= c.-44G= (n.-44G=) c.389G= (p.Gly130=) c.746G= (p.Gly249=) c.566G= (p.Gly189=) c.551G= (p.Gly184=) c.-352G= (n.-352G=) | |
| 1 | g.7803088G>T | CA338133592 | PER3 | c.914G>T (p.Gly305Val) c.911G>T (p.Gly304Val) n.38G>T c.-44G>T (n.-44G>T) c.389G>T (p.Gly130Val) c.746G>T (p.Gly249Val) c.566G>T (p.Gly189Val) c.551G>T (p.Gly184Val) c.-352G>T (n.-352G>T) | |
| 1 | g.7803089A>C | CA415834042 | PER3 | c.915A>C (p.Gly305=) c.912A>C (p.Gly304=) n.39A>C c.-43A>C (n.-43A>C) c.390A>C (p.Gly130=) c.747A>C (p.Gly249=) c.567A>C (p.Gly189=) c.552A>C (p.Gly184=) c.-351A>C (n.-351A>C) | |
| 1 | g.7803089A>G | CA415834043 | PER3 | c.915A>G (p.Gly305=) c.912A>G (p.Gly304=) n.39A>G c.-43A>G (n.-43A>G) c.390A>G (p.Gly130=) c.747A>G (p.Gly249=) c.567A>G (p.Gly189=) c.552A>G (p.Gly184=) c.-351A>G (n.-351A>G) | |
| 1 | g.7803089A>T | CA415834044 | PER3 | c.915A>T (p.Gly305=) c.912A>T (p.Gly304=) n.39A>T c.-43A>T (n.-43A>T) c.390A>T (p.Gly130=) c.747A>T (p.Gly249=) c.567A>T (p.Gly189=) c.552A>T (p.Gly184=) c.-351A>T (n.-351A>T) | |
| 1 | g.7803090A>C | CA338133593 | PER3 | c.916A>C (p.Thr306Pro) c.913A>C (p.Thr305Pro) n.40A>C c.-42A>C (n.-42A>C) c.391A>C (p.Thr131Pro) c.748A>C (p.Thr250Pro) c.568A>C (p.Thr190Pro) c.553A>C (p.Thr185Pro) c.-350A>C (n.-350A>C) | |
| 1 | g.7803090A>G | CA338133598 | PER3 | c.916A>G (p.Thr306Ala) c.913A>G (p.Thr305Ala) n.40A>G c.-42A>G (n.-42A>G) c.391A>G (p.Thr131Ala) c.748A>G (p.Thr250Ala) c.568A>G (p.Thr190Ala) c.553A>G (p.Thr185Ala) c.-350A>G (n.-350A>G) | |
| 1 | g.7803090A>T | CA338133600 | PER3 | c.916A>T (p.Thr306Ser) c.913A>T (p.Thr305Ser) n.40A>T c.-42A>T (n.-42A>T) c.391A>T (p.Thr131Ser) c.748A>T (p.Thr250Ser) c.568A>T (p.Thr190Ser) c.553A>T (p.Thr185Ser) c.-350A>T (n.-350A>T) | |
| 1 | g.7803091C>A | CA338133617 | PER3 | c.917C>A (p.Thr306Lys) c.914C>A (p.Thr305Lys) n.41C>A c.-41C>A (n.-41C>A) c.392C>A (p.Thr131Lys) c.749C>A (p.Thr250Lys) c.569C>A (p.Thr190Lys) c.554C>A (p.Thr185Lys) c.-349C>A (n.-349C>A) | |
| 1 | g.7803091C>G | CA338133621 | PER3 | c.917C>G (p.Thr306Arg) c.914C>G (p.Thr305Arg) n.41C>G c.-41C>G (n.-41C>G) c.392C>G (p.Thr131Arg) c.749C>G (p.Thr250Arg) c.569C>G (p.Thr190Arg) c.554C>G (p.Thr185Arg) c.-349C>G (n.-349C>G) | |
| 1 | g.7803091C>T | CA338133623 | PER3 | c.917C>T (p.Thr306Ile) c.914C>T (p.Thr305Ile) n.41C>T c.-41C>T (n.-41C>T) c.392C>T (p.Thr131Ile) c.749C>T (p.Thr250Ile) c.569C>T (p.Thr190Ile) c.554C>T (p.Thr185Ile) c.-349C>T (n.-349C>T) | |
| 1 | g.7803092A= | CA1141717553 | PER3 | c.918A= (p.Thr306=) c.915A= (p.Thr305=) n.42A= c.-40A= (n.-40A=) c.393A= (p.Thr131=) c.750A= (p.Thr250=) c.570A= (p.Thr190=) c.555A= (p.Thr185=) c.-348A= (n.-348A=) | |
| 1 | g.7803092A>C | CA415834045 | PER3 | c.918A>C (p.Thr306=) c.915A>C (p.Thr305=) n.42A>C c.-40A>C (n.-40A>C) c.393A>C (p.Thr131=) c.750A>C (p.Thr250=) c.570A>C (p.Thr190=) c.555A>C (p.Thr185=) c.-348A>C (n.-348A>C) | |
| 1 | g.7803092A>G | CA567919 | PER3 | c.918A>G (p.Thr306=) c.915A>G (p.Thr305=) n.42A>G c.-40A>G (n.-40A>G) c.393A>G (p.Thr131=) c.750A>G (p.Thr250=) c.570A>G (p.Thr190=) c.555A>G (p.Thr185=) c.-348A>G (n.-348A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.7803092A>T | CA415834046 | PER3 | c.918A>T (p.Thr306=) c.915A>T (p.Thr305=) n.42A>T c.-40A>T (n.-40A>T) c.393A>T (p.Thr131=) c.750A>T (p.Thr250=) c.570A>T (p.Thr190=) c.555A>T (p.Thr185=) c.-348A>T (n.-348A>T) | |
| 1 | g.7803093T>A | CA338133630 | PER3 | c.919T>A (p.Ser307Thr) c.916T>A (p.Ser306Thr) n.43T>A c.-39T>A (n.-39T>A) c.394T>A (p.Ser132Thr) c.751T>A (p.Ser251Thr) c.571T>A (p.Ser191Thr) c.556T>A (p.Ser186Thr) c.-347T>A (n.-347T>A) | |
| 1 | g.7803093T>C | CA338133632 | PER3 | c.919T>C (p.Ser307Pro) c.916T>C (p.Ser306Pro) n.43T>C c.-39T>C (n.-39T>C) c.394T>C (p.Ser132Pro) c.751T>C (p.Ser251Pro) c.571T>C (p.Ser191Pro) c.556T>C (p.Ser186Pro) c.-347T>C (n.-347T>C) | |
| 1 | g.7803093T>G | CA338133636 | PER3 | c.919T>G (p.Ser307Ala) c.916T>G (p.Ser306Ala) n.43T>G c.-39T>G (n.-39T>G) c.394T>G (p.Ser132Ala) c.751T>G (p.Ser251Ala) c.571T>G (p.Ser191Ala) c.556T>G (p.Ser186Ala) c.-347T>G (n.-347T>G) | |
| 1 | g.7803094C>A | CA338133645 | PER3 | c.920C>A (p.Ser307Ter) c.917C>A (p.Ser306Ter) n.44C>A c.-38C>A (n.-38C>A) c.395C>A (p.Ser132Ter) c.752C>A (p.Ser251Ter) c.572C>A (p.Ser191Ter) c.557C>A (p.Ser186Ter) c.-346C>A (n.-346C>A) | |
| 1 | g.7803094C= | CA1152038720 | PER3 | c.920C= (p.Ser307=) c.917C= (p.Ser306=) n.44C= c.-38C= (n.-38C=) c.395C= (p.Ser132=) c.752C= (p.Ser251=) c.572C= (p.Ser191=) c.557C= (p.Ser186=) c.-346C= (n.-346C=) | |
| 1 | g.7803094C>G | CA338133653 | PER3 | c.920C>G (p.Ser307Trp) c.917C>G (p.Ser306Trp) n.44C>G c.-38C>G (n.-38C>G) c.395C>G (p.Ser132Trp) c.752C>G (p.Ser251Trp) c.572C>G (p.Ser191Trp) c.557C>G (p.Ser186Trp) c.-346C>G (n.-346C>G) | |
| 1 | g.7803094C>T | CA567920 | PER3 | c.920C>T (p.Ser307Leu) c.917C>T (p.Ser306Leu) n.44C>T c.-38C>T (n.-38C>T) c.395C>T (p.Ser132Leu) c.752C>T (p.Ser251Leu) c.572C>T (p.Ser191Leu) c.557C>T (p.Ser186Leu) c.-346C>T (n.-346C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.7803095G>A | CA415834049 | PER3 | c.921G>A (p.Ser307=) c.918G>A (p.Ser306=) n.45G>A c.-37G>A (n.-37G>A) c.396G>A (p.Ser132=) c.753G>A (p.Ser251=) c.573G>A (p.Ser191=) c.558G>A (p.Ser186=) c.-345G>A (n.-345G>A) | gnomAD v4 COSMIC |
| 1 | g.7803095G>C | CA415834048 | PER3 | c.921G>C (p.Ser307=) c.918G>C (p.Ser306=) n.45G>C c.-37G>C (n.-37G>C) c.396G>C (p.Ser132=) c.753G>C (p.Ser251=) c.573G>C (p.Ser191=) c.558G>C (p.Ser186=) c.-345G>C (n.-345G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.7803095G= | CA1152038721 | PER3 | c.921G= (p.Ser307=) c.918G= (p.Ser306=) n.45G= c.-37G= (n.-37G=) c.396G= (p.Ser132=) c.753G= (p.Ser251=) c.573G= (p.Ser191=) c.558G= (p.Ser186=) c.-345G= (n.-345G=) | |
| 1 | g.7803095G>T | CA415834047 | PER3 | c.921G>T (p.Ser307=) c.918G>T (p.Ser306=) n.45G>T c.-37G>T (n.-37G>T) c.396G>T (p.Ser132=) c.753G>T (p.Ser251=) c.573G>T (p.Ser191=) c.558G>T (p.Ser186=) c.-345G>T (n.-345G>T) | |
| 1 | g.7803096A>C | CA338133661 | PER3 | c.922A>C (p.Ile308Leu) c.919A>C (p.Ile307Leu) n.46A>C c.-36A>C (n.-36A>C) c.397A>C (p.Ile133Leu) c.754A>C (p.Ile252Leu) c.574A>C (p.Ile192Leu) c.559A>C (p.Ile187Leu) c.-344A>C (n.-344A>C) | |
| 1 | g.7803096A>G | CA338133665 | PER3 | c.922A>G (p.Ile308Val) c.919A>G (p.Ile307Val) n.46A>G c.-36A>G (n.-36A>G) c.397A>G (p.Ile133Val) c.754A>G (p.Ile252Val) c.574A>G (p.Ile192Val) c.559A>G (p.Ile187Val) c.-344A>G (n.-344A>G) | |
| 1 | g.7803096A>T | CA338133666 | PER3 | c.922A>T (p.Ile308Phe) c.919A>T (p.Ile307Phe) n.46A>T c.-36A>T (n.-36A>T) c.397A>T (p.Ile133Phe) c.754A>T (p.Ile252Phe) c.574A>T (p.Ile192Phe) c.559A>T (p.Ile187Phe) c.-344A>T (n.-344A>T) | |
| 1 | g.7803097T>A | CA338133670 | PER3 | c.923T>A (p.Ile308Asn) c.920T>A (p.Ile307Asn) n.47T>A c.-35T>A (n.-35T>A) c.398T>A (p.Ile133Asn) c.755T>A (p.Ile252Asn) c.575T>A (p.Ile192Asn) c.560T>A (p.Ile187Asn) c.-343T>A (n.-343T>A) | |
| 1 | g.7803097T>C | CA338133671 | PER3 | c.923T>C (p.Ile308Thr) c.920T>C (p.Ile307Thr) n.47T>C c.-35T>C (n.-35T>C) c.398T>C (p.Ile133Thr) c.755T>C (p.Ile252Thr) c.575T>C (p.Ile192Thr) c.560T>C (p.Ile187Thr) c.-343T>C (n.-343T>C) | |
| 1 | g.7803097T>G | CA338133674 | PER3 | c.923T>G (p.Ile308Ser) c.920T>G (p.Ile307Ser) n.47T>G c.-35T>G (n.-35T>G) c.398T>G (p.Ile133Ser) c.755T>G (p.Ile252Ser) c.575T>G (p.Ile192Ser) c.560T>G (p.Ile187Ser) c.-343T>G (n.-343T>G) | |
| 1 | g.7803098C>A | CA415834050 | PER3 | c.924C>A (p.Ile308=) c.921C>A (p.Ile307=) n.48C>A c.-34C>A (n.-34C>A) c.399C>A (p.Ile133=) c.756C>A (p.Ile252=) c.576C>A (p.Ile192=) c.561C>A (p.Ile187=) c.-342C>A (n.-342C>A) | dbSNP |
| 1 | g.7803098C= | CA1152038722 | PER3 | c.924C= (p.Ile308=) c.921C= (p.Ile307=) n.48C= c.-34C= (n.-34C=) c.399C= (p.Ile133=) c.756C= (p.Ile252=) c.576C= (p.Ile192=) c.561C= (p.Ile187=) c.-342C= (n.-342C=) | |
| 1 | g.7803098C>G | CA567921 | PER3 | c.924C>G (p.Ile308Met) c.921C>G (p.Ile307Met) n.48C>G c.-34C>G (n.-34C>G) c.399C>G (p.Ile133Met) c.756C>G (p.Ile252Met) c.576C>G (p.Ile192Met) c.561C>G (p.Ile187Met) c.-342C>G (n.-342C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.7803098C>T | CA415834051 | PER3 | c.924C>T (p.Ile308=) c.921C>T (p.Ile307=) n.48C>T c.-34C>T (n.-34C>T) c.399C>T (p.Ile133=) c.756C>T (p.Ile252=) c.576C>T (p.Ile192=) c.561C>T (p.Ile187=) c.-342C>T (n.-342C>T) | |
| 1 | g.7803099C>A | CA338133678 | PER3 | c.925C>A (p.Leu309Ile) c.922C>A (p.Leu308Ile) n.49C>A c.-33C>A (n.-33C>A) c.400C>A (p.Leu134Ile) c.757C>A (p.Leu253Ile) c.577C>A (p.Leu193Ile) c.562C>A (p.Leu188Ile) c.-341C>A (n.-341C>A) | |
| 1 | g.7803099C>G | CA338133679 | PER3 | c.925C>G (p.Leu309Val) c.922C>G (p.Leu308Val) n.49C>G c.-33C>G (n.-33C>G) c.400C>G (p.Leu134Val) c.757C>G (p.Leu253Val) c.577C>G (p.Leu193Val) c.562C>G (p.Leu188Val) c.-341C>G (n.-341C>G) | |
| 1 | g.7803099C>T | CA415834052 | PER3 | c.925C>T (p.Leu309=) c.922C>T (p.Leu308=) n.49C>T c.-33C>T (n.-33C>T) c.400C>T (p.Leu134=) c.757C>T (p.Leu253=) c.577C>T (p.Leu193=) c.562C>T (p.Leu188=) c.-341C>T (n.-341C>T) | |
| 1 | g.7803100T>A | CA338133684 | PER3 | c.926T>A (p.Leu309Gln) c.923T>A (p.Leu308Gln) n.50T>A c.-32T>A (n.-32T>A) c.401T>A (p.Leu134Gln) c.758T>A (p.Leu253Gln) c.578T>A (p.Leu193Gln) c.563T>A (p.Leu188Gln) c.-340T>A (n.-340T>A) | |
| 1 | g.7803100T>C | CA338133697 | PER3 | c.926T>C (p.Leu309Pro) c.923T>C (p.Leu308Pro) n.50T>C c.-32T>C (n.-32T>C) c.401T>C (p.Leu134Pro) c.758T>C (p.Leu253Pro) c.578T>C (p.Leu193Pro) c.563T>C (p.Leu188Pro) c.-340T>C (n.-340T>C) | |
| 1 | g.7803100T>G | CA338133701 | PER3 | c.926T>G (p.Leu309Arg) c.923T>G (p.Leu308Arg) n.50T>G c.-32T>G (n.-32T>G) c.401T>G (p.Leu134Arg) c.758T>G (p.Leu253Arg) c.578T>G (p.Leu193Arg) c.563T>G (p.Leu188Arg) c.-340T>G (n.-340T>G) | |
| 1 | g.7803101A= | CA1152038723 | PER3 | c.927A= (p.Leu309=) c.924A= (p.Leu308=) n.51A= c.-31A= (n.-31A=) c.402A= (p.Leu134=) c.759A= (p.Leu253=) c.579A= (p.Leu193=) c.564A= (p.Leu188=) c.-339A= (n.-339A=) | |
| 1 | g.7803101A>C | CA415834053 | PER3 | c.927A>C (p.Leu309=) c.924A>C (p.Leu308=) n.51A>C c.-31A>C (n.-31A>C) c.402A>C (p.Leu134=) c.759A>C (p.Leu253=) c.579A>C (p.Leu193=) c.564A>C (p.Leu188=) c.-339A>C (n.-339A>C) | |
| 1 | g.7803101A>G | CA415834055 | PER3 | c.927A>G (p.Leu309=) c.924A>G (p.Leu308=) n.51A>G c.-31A>G (n.-31A>G) c.402A>G (p.Leu134=) c.759A>G (p.Leu253=) c.579A>G (p.Leu193=) c.564A>G (p.Leu188=) c.-339A>G (n.-339A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.7803101A>T | CA415834054 | PER3 | c.927A>T (p.Leu309=) c.924A>T (p.Leu308=) n.51A>T c.-31A>T (n.-31A>T) c.402A>T (p.Leu134=) c.759A>T (p.Leu253=) c.579A>T (p.Leu193=) c.564A>T (p.Leu188=) c.-339A>T (n.-339A>T) | |
| 1 | g.7803102del | CA2530690797 | PER3 | c.928del (p.Ser310AlafsTer10) c.925del (p.Ser309AlafsTer10) n.52del c.-30del (n.-30del) c.403del (p.Ser135AlafsTer10) c.760del (p.Ser254AlafsTer10) c.580del (p.Ser194AlafsTer10) c.565del (p.Ser189AlafsTer10) c.-338del (n.-338del) | |
| 1 | g.7803102A>C | CA338133732 | PER3 | c.928A>C (p.Ser310Arg) c.925A>C (p.Ser309Arg) n.52A>C c.-30A>C (n.-30A>C) c.403A>C (p.Ser135Arg) c.760A>C (p.Ser254Arg) c.580A>C (p.Ser194Arg) c.565A>C (p.Ser189Arg) c.-338A>C (n.-338A>C) | |
| 1 | g.7803102A>G | CA338133711 | PER3 | c.928A>G (p.Ser310Gly) c.925A>G (p.Ser309Gly) n.52A>G c.-30A>G (n.-30A>G) c.403A>G (p.Ser135Gly) c.760A>G (p.Ser254Gly) c.580A>G (p.Ser194Gly) c.565A>G (p.Ser189Gly) c.-338A>G (n.-338A>G) | |
| 1 | g.7803102A>T | CA338133724 | PER3 | c.928A>T (p.Ser310Cys) c.925A>T (p.Ser309Cys) n.52A>T c.-30A>T (n.-30A>T) c.403A>T (p.Ser135Cys) c.760A>T (p.Ser254Cys) c.580A>T (p.Ser194Cys) c.565A>T (p.Ser189Cys) c.-338A>T (n.-338A>T) | |
| 1 | g.7803103G>A | CA338133736 | PER3 | c.929G>A (p.Ser310Asn) c.926G>A (p.Ser309Asn) n.53G>A c.-29G>A (n.-29G>A) c.404G>A (p.Ser135Asn) c.761G>A (p.Ser254Asn) c.581G>A (p.Ser194Asn) c.566G>A (p.Ser189Asn) c.-337G>A (n.-337G>A) | dbSNP |
| 1 | g.7803103G>C | CA338133741 | PER3 | c.929G>C (p.Ser310Thr) c.926G>C (p.Ser309Thr) n.53G>C c.-29G>C (n.-29G>C) c.404G>C (p.Ser135Thr) c.761G>C (p.Ser254Thr) c.581G>C (p.Ser194Thr) c.566G>C (p.Ser189Thr) c.-337G>C (n.-337G>C) | |
| 1 | g.7803103G= | CA1152038724 | PER3 | c.929G= (p.Ser310=) c.926G= (p.Ser309=) n.53G= c.-29G= (n.-29G=) c.404G= (p.Ser135=) c.761G= (p.Ser254=) c.581G= (p.Ser194=) c.566G= (p.Ser189=) c.-337G= (n.-337G=) | |
| 1 | g.7803103G>T | CA338133749 | PER3 | c.929G>T (p.Ser310Ile) c.926G>T (p.Ser309Ile) n.53G>T c.-29G>T (n.-29G>T) c.404G>T (p.Ser135Ile) c.761G>T (p.Ser254Ile) c.581G>T (p.Ser194Ile) c.566G>T (p.Ser189Ile) c.-337G>T (n.-337G>T) | |
| 1 | g.7803104C>A | CA338133758 | PER3 | c.930C>A (p.Ser310Arg) c.927C>A (p.Ser309Arg) n.54C>A c.-28C>A (n.-28C>A) c.405C>A (p.Ser135Arg) c.762C>A (p.Ser254Arg) c.582C>A (p.Ser194Arg) c.567C>A (p.Ser189Arg) c.-336C>A (n.-336C>A) | |
| 1 | g.7803104C>G | CA338133760 | PER3 | c.930C>G (p.Ser310Arg) c.927C>G (p.Ser309Arg) n.54C>G c.-28C>G (n.-28C>G) c.405C>G (p.Ser135Arg) c.762C>G (p.Ser254Arg) c.582C>G (p.Ser194Arg) c.567C>G (p.Ser189Arg) c.-336C>G (n.-336C>G) | |
| 1 | g.7803104C>T | CA415834056 | PER3 | c.930C>T (p.Ser310=) c.927C>T (p.Ser309=) n.54C>T c.-28C>T (n.-28C>T) c.405C>T (p.Ser135=) c.762C>T (p.Ser254=) c.582C>T (p.Ser194=) c.567C>T (p.Ser189=) c.-336C>T (n.-336C>T) | gnomAD v4 |
| 1 | g.7803104_7803105insG | CA2570820601 | PER3 | c.930_931insG (p.Tyr311ValfsTer5) c.927_928insG (p.Tyr310ValfsTer5) n.54_55insG c.-28_-27insG (n.-28_-27insG) c.405_406insG (p.Tyr136ValfsTer5) c.762_763insG (p.Tyr255ValfsTer5) c.582_583insG (p.Tyr195ValfsTer5) c.567_568insG (p.Tyr190ValfsTer5) c.-336_-335insG (n.-336_-335insG) | |
| 1 | g.7803105T>A | CA338133763 | PER3 | c.931T>A (p.Tyr311Asn) c.928T>A (p.Tyr310Asn) n.55T>A c.-27T>A (n.-27T>A) c.406T>A (p.Tyr136Asn) c.763T>A (p.Tyr255Asn) c.583T>A (p.Tyr195Asn) c.568T>A (p.Tyr190Asn) c.-335T>A (n.-335T>A) | |
| 1 | g.7803105T>C | CA338133765 | PER3 | c.931T>C (p.Tyr311His) c.928T>C (p.Tyr310His) n.55T>C c.-27T>C (n.-27T>C) c.406T>C (p.Tyr136His) c.763T>C (p.Tyr255His) c.583T>C (p.Tyr195His) c.568T>C (p.Tyr190His) c.-335T>C (n.-335T>C) | gnomAD v4 |
| 1 | g.7803105T>G | CA338133766 | PER3 | c.931T>G (p.Tyr311Asp) c.928T>G (p.Tyr310Asp) n.55T>G c.-27T>G (n.-27T>G) c.406T>G (p.Tyr136Asp) c.763T>G (p.Tyr255Asp) c.583T>G (p.Tyr195Asp) c.568T>G (p.Tyr190Asp) c.-335T>G (n.-335T>G) | |
| 1 | g.7803106A= | CA1152038725 | PER3 | c.932A= (p.Tyr311=) c.929A= (p.Tyr310=) n.56A= c.-26A= (n.-26A=) c.407A= (p.Tyr136=) c.764A= (p.Tyr255=) c.584A= (p.Tyr195=) c.569A= (p.Tyr190=) c.-334A= (n.-334A=) | |
| 1 | g.7803106A>C | CA338133770 | PER3 | c.932A>C (p.Tyr311Ser) c.929A>C (p.Tyr310Ser) n.56A>C c.-26A>C (n.-26A>C) c.407A>C (p.Tyr136Ser) c.764A>C (p.Tyr255Ser) c.584A>C (p.Tyr195Ser) c.569A>C (p.Tyr190Ser) c.-334A>C (n.-334A>C) | |
| 1 | g.7803106A>G | CA338133771 | PER3 | c.932A>G (p.Tyr311Cys) c.929A>G (p.Tyr310Cys) n.56A>G c.-26A>G (n.-26A>G) c.407A>G (p.Tyr136Cys) c.764A>G (p.Tyr255Cys) c.584A>G (p.Tyr195Cys) c.569A>G (p.Tyr190Cys) c.-334A>G (n.-334A>G) | dbSNP |
| 1 | g.7803106A>T | CA338133772 | PER3 | c.932A>T (p.Tyr311Phe) c.929A>T (p.Tyr310Phe) n.56A>T c.-26A>T (n.-26A>T) c.407A>T (p.Tyr136Phe) c.764A>T (p.Tyr255Phe) c.584A>T (p.Tyr195Phe) c.569A>T (p.Tyr190Phe) c.-334A>T (n.-334A>T) | |
| 1 | g.7803107C>A | CA338133777 | PER3 | c.933C>A (p.Tyr311Ter) c.930C>A (p.Tyr310Ter) n.57C>A c.-25C>A (n.-25C>A) c.408C>A (p.Tyr136Ter) c.765C>A (p.Tyr255Ter) c.585C>A (p.Tyr195Ter) c.570C>A (p.Tyr190Ter) c.-333C>A (n.-333C>A) | |
| 1 | g.7803107C= | CA1152038726 | PER3 | c.933C= (p.Tyr311=) c.930C= (p.Tyr310=) n.57C= c.-25C= (n.-25C=) c.408C= (p.Tyr136=) c.765C= (p.Tyr255=) c.585C= (p.Tyr195=) c.570C= (p.Tyr190=) c.-333C= (n.-333C=) | |
| 1 | g.7803107C>G | CA338133776 | PER3 | c.933C>G (p.Tyr311Ter) c.930C>G (p.Tyr310Ter) n.57C>G c.-25C>G (n.-25C>G) c.408C>G (p.Tyr136Ter) c.765C>G (p.Tyr255Ter) c.585C>G (p.Tyr195Ter) c.570C>G (p.Tyr190Ter) c.-333C>G (n.-333C>G) | |
| 1 | g.7803107C>T | CA567922 | PER3 | c.933C>T (p.Tyr311=) c.930C>T (p.Tyr310=) n.57C>T c.-25C>T (n.-25C>T) c.408C>T (p.Tyr136=) c.765C>T (p.Tyr255=) c.585C>T (p.Tyr195=) c.570C>T (p.Tyr190=) c.-333C>T (n.-333C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.7803108C>A | CA338133779 | PER3 | c.934C>A (p.Leu312Met) c.931C>A (p.Leu311Met) n.58C>A c.-24C>A (n.-24C>A) c.409C>A (p.Leu137Met) c.766C>A (p.Leu256Met) c.586C>A (p.Leu196Met) c.571C>A (p.Leu191Met) c.-332C>A (n.-332C>A) | |
| 1 | g.7803108C= | CA1152038727 | PER3 | c.934C= (p.Leu312=) c.931C= (p.Leu311=) n.58C= c.-24C= (n.-24C=) c.409C= (p.Leu137=) c.766C= (p.Leu256=) c.586C= (p.Leu196=) c.571C= (p.Leu191=) c.-332C= (n.-332C=) | |
| 1 | g.7803108C>G | CA338133781 | PER3 | c.934C>G (p.Leu312Val) c.931C>G (p.Leu311Val) n.58C>G c.-24C>G (n.-24C>G) c.409C>G (p.Leu137Val) c.766C>G (p.Leu256Val) c.586C>G (p.Leu196Val) c.571C>G (p.Leu191Val) c.-332C>G (n.-332C>G) | |
| 1 | g.7803108C>T | CA415834057 | PER3 | c.934C>T (p.Leu312=) c.931C>T (p.Leu311=) n.58C>T c.-24C>T (n.-24C>T) c.409C>T (p.Leu137=) c.766C>T (p.Leu256=) c.586C>T (p.Leu196=) c.571C>T (p.Leu191=) c.-332C>T (n.-332C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.7803109T>A | CA338133782 | PER3 | c.935T>A (p.Leu312Gln) c.932T>A (p.Leu311Gln) n.59T>A c.-23T>A (n.-23T>A) c.410T>A (p.Leu137Gln) c.767T>A (p.Leu256Gln) c.587T>A (p.Leu196Gln) c.572T>A (p.Leu191Gln) c.-331T>A (n.-331T>A) | |
| 1 | g.7803109T>C | CA338133788 | PER3 | c.935T>C (p.Leu312Pro) c.932T>C (p.Leu311Pro) n.59T>C c.-23T>C (n.-23T>C) c.410T>C (p.Leu137Pro) c.767T>C (p.Leu256Pro) c.587T>C (p.Leu196Pro) c.572T>C (p.Leu191Pro) c.-331T>C (n.-331T>C) | |
| 1 | g.7803109T>G | CA338133784 | PER3 | c.935T>G (p.Leu312Arg) c.932T>G (p.Leu311Arg) n.59T>G c.-23T>G (n.-23T>G) c.410T>G (p.Leu137Arg) c.767T>G (p.Leu256Arg) c.587T>G (p.Leu196Arg) c.572T>G (p.Leu191Arg) c.-331T>G (n.-331T>G) | gnomAD v4 |
| 1 | g.7803110G>A | CA415834058 | PER3 | c.936G>A (p.Leu312=) c.933G>A (p.Leu311=) n.60G>A c.-22G>A (n.-22G>A) c.411G>A (p.Leu137=) c.768G>A (p.Leu256=) c.588G>A (p.Leu196=) c.573G>A (p.Leu191=) c.-330G>A (n.-330G>A) | gnomAD v4 |
| 1 | g.7803110G>C | CA415834059 | PER3 | c.936G>C (p.Leu312=) c.933G>C (p.Leu311=) n.60G>C c.-22G>C (n.-22G>C) c.411G>C (p.Leu137=) c.768G>C (p.Leu256=) c.588G>C (p.Leu196=) c.573G>C (p.Leu191=) c.-330G>C (n.-330G>C) | |
| 1 | g.7803110G>T | CA415834060 | PER3 | c.936G>T (p.Leu312=) c.933G>T (p.Leu311=) n.60G>T c.-22G>T (n.-22G>T) c.411G>T (p.Leu137=) c.768G>T (p.Leu256=) c.588G>T (p.Leu196=) c.573G>T (p.Leu191=) c.-330G>T (n.-330G>T) | |
| 1 | g.7803111C>A | CA338133798 | PER3 | c.937C>A (p.His313Asn) c.934C>A (p.His312Asn) n.61C>A c.-21C>A (n.-21C>A) c.412C>A (p.His138Asn) c.769C>A (p.His257Asn) c.589C>A (p.His197Asn) c.574C>A (p.His192Asn) c.-329C>A (n.-329C>A) | |
| 1 | g.7803111C= | CA1152038728 | PER3 | c.937C= (p.His313=) c.934C= (p.His312=) n.61C= c.-21C= (n.-21C=) c.412C= (p.His138=) c.769C= (p.His257=) c.589C= (p.His197=) c.574C= (p.His192=) c.-329C= (n.-329C=) | |
| 1 | g.7803111C>G | CA17254833 | PER3 | c.937C>G (p.His313Asp) c.934C>G (p.His312Asp) n.61C>G c.-21C>G (n.-21C>G) c.412C>G (p.His138Asp) c.769C>G (p.His257Asp) c.589C>G (p.His197Asp) c.574C>G (p.His192Asp) c.-329C>G (n.-329C>G) | dbSNP gnomAD v4 |
| 1 | g.7803111C>T | CA567923 | PER3 | c.937C>T (p.His313Tyr) c.934C>T (p.His312Tyr) n.61C>T c.-21C>T (n.-21C>T) c.412C>T (p.His138Tyr) c.769C>T (p.His257Tyr) c.589C>T (p.His197Tyr) c.574C>T (p.His192Tyr) c.-329C>T (n.-329C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.7803112A>C | CA338133826 | PER3 | c.938A>C (p.His313Pro) c.935A>C (p.His312Pro) n.62A>C c.-20A>C (n.-20A>C) c.413A>C (p.His138Pro) c.770A>C (p.His257Pro) c.590A>C (p.His197Pro) c.575A>C (p.His192Pro) c.-328A>C (n.-328A>C) | |
| 1 | g.7803112A>G | CA338133831 | PER3 | c.938A>G (p.His313Arg) c.935A>G (p.His312Arg) n.62A>G c.-20A>G (n.-20A>G) c.413A>G (p.His138Arg) c.770A>G (p.His257Arg) c.590A>G (p.His197Arg) c.575A>G (p.His192Arg) c.-328A>G (n.-328A>G) | |
| 1 | g.7803112A>T | CA338133837 | PER3 | c.938A>T (p.His313Leu) c.935A>T (p.His312Leu) n.62A>T c.-20A>T (n.-20A>T) c.413A>T (p.His138Leu) c.770A>T (p.His257Leu) c.590A>T (p.His197Leu) c.575A>T (p.His192Leu) c.-328A>T (n.-328A>T) | |
| 1 | g.7803113C>A | CA338133842 | PER3 | c.939C>A (p.His313Gln) c.936C>A (p.His312Gln) n.63C>A c.-19C>A (n.-19C>A) c.414C>A (p.His138Gln) c.771C>A (p.His257Gln) c.591C>A (p.His197Gln) c.576C>A (p.His192Gln) c.-327C>A (n.-327C>A) | |
| 1 | g.7803113C>G | CA338133844 | PER3 | c.939C>G (p.His313Gln) c.936C>G (p.His312Gln) n.63C>G c.-19C>G (n.-19C>G) c.414C>G (p.His138Gln) c.771C>G (p.His257Gln) c.591C>G (p.His197Gln) c.576C>G (p.His192Gln) c.-327C>G (n.-327C>G) | |
| 1 | g.7803113C>T | CA415834061 | PER3 | c.939C>T (p.His313=) c.936C>T (p.His312=) n.63C>T c.-19C>T (n.-19C>T) c.414C>T (p.His138=) c.771C>T (p.His257=) c.591C>T (p.His197=) c.576C>T (p.His192=) c.-327C>T (n.-327C>T) | |
| 1 | g.7803114C>A | CA338133851 | PER3 | c.940C>A (p.Pro314Thr) c.937C>A (p.Pro313Thr) n.64C>A c.-18C>A (n.-18C>A) c.415C>A (p.Pro139Thr) c.772C>A (p.Pro258Thr) c.592C>A (p.Pro198Thr) c.577C>A (p.Pro193Thr) c.-326C>A (n.-326C>A) | |
| 1 | g.7803114C>G | CA338133858 | PER3 | c.940C>G (p.Pro314Ala) c.937C>G (p.Pro313Ala) n.64C>G c.-18C>G (n.-18C>G) c.415C>G (p.Pro139Ala) c.772C>G (p.Pro258Ala) c.592C>G (p.Pro198Ala) c.577C>G (p.Pro193Ala) c.-326C>G (n.-326C>G) | gnomAD v4 |
| 1 | g.7803114C>T | CA338133867 | PER3 | c.940C>T (p.Pro314Ser) c.937C>T (p.Pro313Ser) n.64C>T c.-18C>T (n.-18C>T) c.415C>T (p.Pro139Ser) c.772C>T (p.Pro258Ser) c.592C>T (p.Pro198Ser) c.577C>T (p.Pro193Ser) c.-326C>T (n.-326C>T) | |
| 1 | g.7803115C>A | CA338133871 | PER3 | c.941C>A (p.Pro314His) c.938C>A (p.Pro313His) n.65C>A c.-17C>A (n.-17C>A) c.416C>A (p.Pro139His) c.773C>A (p.Pro258His) c.593C>A (p.Pro198His) c.578C>A (p.Pro193His) c.-325C>A (n.-325C>A) | |
| 1 | g.7803115C= | CA1152038729 | PER3 | c.941C= (p.Pro314=) c.938C= (p.Pro313=) n.65C= c.-17C= (n.-17C=) c.416C= (p.Pro139=) c.773C= (p.Pro258=) c.593C= (p.Pro198=) c.578C= (p.Pro193=) c.-325C= (n.-325C=) | |
| 1 | g.7803115C>G | CA567924 | PER3 | c.941C>G (p.Pro314Arg) c.938C>G (p.Pro313Arg) n.65C>G c.-17C>G (n.-17C>G) c.416C>G (p.Pro139Arg) c.773C>G (p.Pro258Arg) c.593C>G (p.Pro198Arg) c.578C>G (p.Pro193Arg) c.-325C>G (n.-325C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.7803115C>T | CA338133874 | PER3 | c.941C>T (p.Pro314Leu) c.938C>T (p.Pro313Leu) n.65C>T c.-17C>T (n.-17C>T) c.416C>T (p.Pro139Leu) c.773C>T (p.Pro258Leu) c.593C>T (p.Pro198Leu) c.578C>T (p.Pro193Leu) c.-325C>T (n.-325C>T) | dbSNP |
| 1 | g.7803116T>A | CA415834064 | PER3 | c.942T>A (p.Pro314=) c.939T>A (p.Pro313=) n.66T>A c.-16T>A (n.-16T>A) c.417T>A (p.Pro139=) c.774T>A (p.Pro258=) c.594T>A (p.Pro198=) c.579T>A (p.Pro193=) c.-324T>A (n.-324T>A) | |
| 1 | g.7803116T>C | CA415834062 | PER3 | c.942T>C (p.Pro314=) c.939T>C (p.Pro313=) n.66T>C c.-16T>C (n.-16T>C) c.417T>C (p.Pro139=) c.774T>C (p.Pro258=) c.594T>C (p.Pro198=) c.579T>C (p.Pro193=) c.-324T>C (n.-324T>C) | |
| 1 | g.7803116T>G | CA415834063 | PER3 | c.942T>G (p.Pro314=) c.939T>G (p.Pro313=) n.66T>G c.-16T>G (n.-16T>G) c.417T>G (p.Pro139=) c.774T>G (p.Pro258=) c.594T>G (p.Pro198=) c.579T>G (p.Pro193=) c.-324T>G (n.-324T>G) | dbSNP gnomAD v4 |
| 1 | g.7803116T= | CA1152038730 | PER3 | c.942T= (p.Pro314=) c.939T= (p.Pro313=) n.66T= c.-16T= (n.-16T=) c.417T= (p.Pro139=) c.774T= (p.Pro258=) c.594T= (p.Pro198=) c.579T= (p.Pro193=) c.-324T= (n.-324T=) | |
| 1 | g.7803117G>A | CA338133883 | PER3 | c.943G>A (p.Glu315Lys) c.940G>A (p.Glu314Lys) n.67G>A c.-15G>A (n.-15G>A) c.418G>A (p.Glu140Lys) c.775G>A (p.Glu259Lys) c.595G>A (p.Glu199Lys) c.580G>A (p.Glu194Lys) c.-323G>A (n.-323G>A) | COSMIC |
| 1 | g.7803117G>C | CA338133899 | PER3 | c.943G>C (p.Glu315Gln) c.940G>C (p.Glu314Gln) n.67G>C c.-15G>C (n.-15G>C) c.418G>C (p.Glu140Gln) c.775G>C (p.Glu259Gln) c.595G>C (p.Glu199Gln) c.580G>C (p.Glu194Gln) c.-323G>C (n.-323G>C) | |
| 1 | g.7803117G>T | CA338133906 | PER3 | c.943G>T (p.Glu315Ter) c.940G>T (p.Glu314Ter) n.67G>T c.-15G>T (n.-15G>T) c.418G>T (p.Glu140Ter) c.775G>T (p.Glu259Ter) c.595G>T (p.Glu199Ter) c.580G>T (p.Glu194Ter) c.-323G>T (n.-323G>T) | |
| 1 | g.7803118A>C | CA338133912 | PER3 | c.944A>C (p.Glu315Ala) c.941A>C (p.Glu314Ala) n.68A>C c.-14A>C (n.-14A>C) c.419A>C (p.Glu140Ala) c.776A>C (p.Glu259Ala) c.596A>C (p.Glu199Ala) c.581A>C (p.Glu194Ala) c.-322A>C (n.-322A>C) | |
| 1 | g.7803118A>G | CA338133913 | PER3 | c.944A>G (p.Glu315Gly) c.941A>G (p.Glu314Gly) n.68A>G c.-14A>G (n.-14A>G) c.419A>G (p.Glu140Gly) c.776A>G (p.Glu259Gly) c.596A>G (p.Glu199Gly) c.581A>G (p.Glu194Gly) c.-322A>G (n.-322A>G) | |
| 1 | g.7803118A>T | CA338133914 | PER3 | c.944A>T (p.Glu315Val) c.941A>T (p.Glu314Val) n.68A>T c.-14A>T (n.-14A>T) c.419A>T (p.Glu140Val) c.776A>T (p.Glu259Val) c.596A>T (p.Glu199Val) c.581A>T (p.Glu194Val) c.-322A>T (n.-322A>T) | |
| 1 | g.7803119A= | CA1152038731 | PER3 | c.945A= (p.Glu315=) c.942A= (p.Glu314=) n.69A= c.-13A= (n.-13A=) c.420A= (p.Glu140=) c.777A= (p.Glu259=) c.597A= (p.Glu199=) c.582A= (p.Glu194=) c.-321A= (n.-321A=) | |
| 1 | g.7803119A>C | CA338133916 | PER3 | c.945A>C (p.Glu315Asp) c.942A>C (p.Glu314Asp) n.69A>C c.-13A>C (n.-13A>C) c.420A>C (p.Glu140Asp) c.777A>C (p.Glu259Asp) c.597A>C (p.Glu199Asp) c.582A>C (p.Glu194Asp) c.-321A>C (n.-321A>C) | dbSNP |
| 1 | g.7803119A>G | CA567925 | PER3 | c.945A>G (p.Glu315=) c.942A>G (p.Glu314=) n.69A>G c.-13A>G (n.-13A>G) c.420A>G (p.Glu140=) c.777A>G (p.Glu259=) c.597A>G (p.Glu199=) c.582A>G (p.Glu194=) c.-321A>G (n.-321A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.7803119A>T | CA338133925 | PER3 | c.945A>T (p.Glu315Asp) c.942A>T (p.Glu314Asp) n.69A>T c.-13A>T (n.-13A>T) c.420A>T (p.Glu140Asp) c.777A>T (p.Glu259Asp) c.597A>T (p.Glu199Asp) c.582A>T (p.Glu194Asp) c.-321A>T (n.-321A>T) | |
| 1 | g.7803120G>A | CA338133930 | PER3 | c.946G>A (p.Asp316Asn) c.943G>A (p.Asp315Asn) n.70G>A c.-12G>A (n.-12G>A) c.421G>A (p.Asp141Asn) c.778G>A (p.Asp260Asn) c.598G>A (p.Asp200Asn) c.583G>A (p.Asp195Asn) c.-320G>A (n.-320G>A) | |
| 1 | g.7803120G>C | CA338133931 | PER3 | c.946G>C (p.Asp316His) c.943G>C (p.Asp315His) n.70G>C c.-12G>C (n.-12G>C) c.421G>C (p.Asp141His) c.778G>C (p.Asp260His) c.598G>C (p.Asp200His) c.583G>C (p.Asp195His) c.-320G>C (n.-320G>C) | |
| 1 | g.7803120G>T | CA338133929 | PER3 | c.946G>T (p.Asp316Tyr) c.943G>T (p.Asp315Tyr) n.70G>T c.-12G>T (n.-12G>T) c.421G>T (p.Asp141Tyr) c.778G>T (p.Asp260Tyr) c.598G>T (p.Asp200Tyr) c.583G>T (p.Asp195Tyr) c.-320G>T (n.-320G>T) | |
| 1 | g.7803121A= | CA1152038732 | PER3 | c.947A= (p.Asp316=) c.944A= (p.Asp315=) n.71A= c.-11A= (n.-11A=) c.422A= (p.Asp141=) c.779A= (p.Asp260=) c.599A= (p.Asp200=) c.584A= (p.Asp195=) c.-319A= (n.-319A=) | |
| 1 | g.7803121A>C | CA338133932 | PER3 | c.947A>C (p.Asp316Ala) c.944A>C (p.Asp315Ala) n.71A>C c.-11A>C (n.-11A>C) c.422A>C (p.Asp141Ala) c.779A>C (p.Asp260Ala) c.599A>C (p.Asp200Ala) c.584A>C (p.Asp195Ala) c.-319A>C (n.-319A>C) | |
| 1 | g.7803121A>G | CA338133933 | PER3 | c.947A>G (p.Asp316Gly) c.944A>G (p.Asp315Gly) n.71A>G c.-11A>G (n.-11A>G) c.422A>G (p.Asp141Gly) c.779A>G (p.Asp260Gly) c.599A>G (p.Asp200Gly) c.584A>G (p.Asp195Gly) c.-319A>G (n.-319A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.7803121A>T | CA338133934 | PER3 | c.947A>T (p.Asp316Val) c.944A>T (p.Asp315Val) n.71A>T c.-11A>T (n.-11A>T) c.422A>T (p.Asp141Val) c.779A>T (p.Asp260Val) c.599A>T (p.Asp200Val) c.584A>T (p.Asp195Val) c.-319A>T (n.-319A>T) | |
| 1 | g.7803122T>A | CA338133937 | PER3 | c.948T>A (p.Asp316Glu) c.945T>A (p.Asp315Glu) n.72T>A c.-10T>A (n.-10T>A) c.423T>A (p.Asp141Glu) c.780T>A (p.Asp260Glu) c.600T>A (p.Asp200Glu) c.585T>A (p.Asp195Glu) c.-318T>A (n.-318T>A) | |
| 1 | g.7803122T>C | CA415834065 | PER3 | c.948T>C (p.Asp316=) c.945T>C (p.Asp315=) n.72T>C c.-10T>C (n.-10T>C) c.423T>C (p.Asp141=) c.780T>C (p.Asp260=) c.600T>C (p.Asp200=) c.585T>C (p.Asp195=) c.-318T>C (n.-318T>C) | gnomAD v4 |
| 1 | g.7803122T>G | CA338133941 | PER3 | c.948T>G (p.Asp316Glu) c.945T>G (p.Asp315Glu) n.72T>G c.-10T>G (n.-10T>G) c.423T>G (p.Asp141Glu) c.780T>G (p.Asp260Glu) c.600T>G (p.Asp200Glu) c.585T>G (p.Asp195Glu) c.-318T>G (n.-318T>G) | |
| 1 | g.7803123C>A | CA338133942 | PER3 | c.949C>A (p.Arg317Ser) c.946C>A (p.Arg316Ser) n.73C>A c.-9C>A (n.-9C>A) c.424C>A (p.Arg142Ser) c.781C>A (p.Arg261Ser) c.601C>A (p.Arg201Ser) c.586C>A (p.Arg196Ser) c.-317C>A (n.-317C>A) | |
| 1 | g.7803123C= | CA1142079852 | PER3 | c.949C= (p.Arg317=) c.946C= (p.Arg316=) n.73C= c.-9C= (n.-9C=) c.424C= (p.Arg142=) c.781C= (p.Arg261=) c.601C= (p.Arg201=) c.586C= (p.Arg196=) c.-317C= (n.-317C=) | |
| 1 | g.7803123C>G | CA338133943 | PER3 | c.949C>G (p.Arg317Gly) c.946C>G (p.Arg316Gly) n.73C>G c.-9C>G (n.-9C>G) c.424C>G (p.Arg142Gly) c.781C>G (p.Arg261Gly) c.601C>G (p.Arg201Gly) c.586C>G (p.Arg196Gly) c.-317C>G (n.-317C>G) | dbSNP gnomAD v4 |
| 1 | g.7803123C>T | CA567926 | PER3 | c.949C>T (p.Arg317Cys) c.946C>T (p.Arg316Cys) n.73C>T c.-9C>T (n.-9C>T) c.424C>T (p.Arg142Cys) c.781C>T (p.Arg261Cys) c.601C>T (p.Arg201Cys) c.586C>T (p.Arg196Cys) c.-317C>T (n.-317C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.7803124G>A | CA567927 | PER3 | c.950G>A (p.Arg317His) c.947G>A (p.Arg316His) n.74G>A c.-8G>A (n.-8G>A) c.425G>A (p.Arg142His) c.782G>A (p.Arg261His) c.602G>A (p.Arg201His) c.587G>A (p.Arg196His) c.-316G>A (n.-316G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.7803124G>C | CA338133951 | PER3 | c.950G>C (p.Arg317Pro) c.947G>C (p.Arg316Pro) n.74G>C c.-8G>C (n.-8G>C) c.425G>C (p.Arg142Pro) c.782G>C (p.Arg261Pro) c.602G>C (p.Arg201Pro) c.587G>C (p.Arg196Pro) c.-316G>C (n.-316G>C) | |
| 1 | g.7803124G= | CA1144387361 | PER3 | c.950G= (p.Arg317=) c.947G= (p.Arg316=) n.74G= c.-8G= (n.-8G=) c.425G= (p.Arg142=) c.782G= (p.Arg261=) c.602G= (p.Arg201=) c.587G= (p.Arg196=) c.-316G= (n.-316G=) | |
| 1 | g.7803124G>T | CA338133959 | PER3 | c.950G>T (p.Arg317Leu) c.947G>T (p.Arg316Leu) n.74G>T c.-8G>T (n.-8G>T) c.425G>T (p.Arg142Leu) c.782G>T (p.Arg261Leu) c.602G>T (p.Arg201Leu) c.587G>T (p.Arg196Leu) c.-316G>T (n.-316G>T) | |
| 1 | g.7803125T>A | CA415834066 | PER3 | c.951T>A (p.Arg317=) c.948T>A (p.Arg316=) n.75T>A c.-7T>A (n.-7T>A) c.426T>A (p.Arg142=) c.783T>A (p.Arg261=) c.603T>A (p.Arg201=) c.588T>A (p.Arg196=) c.-315T>A (n.-315T>A) | dbSNP gnomAD v4 |
| 1 | g.7803125T>C | CA415834067 | PER3 | c.951T>C (p.Arg317=) c.948T>C (p.Arg316=) n.75T>C c.-7T>C (n.-7T>C) c.426T>C (p.Arg142=) c.783T>C (p.Arg261=) c.603T>C (p.Arg201=) c.588T>C (p.Arg196=) c.-315T>C (n.-315T>C) | |
| 1 | g.7803125T>G | CA415834068 | PER3 | c.951T>G (p.Arg317=) c.948T>G (p.Arg316=) n.75T>G c.-7T>G (n.-7T>G) c.426T>G (p.Arg142=) c.783T>G (p.Arg261=) c.603T>G (p.Arg201=) c.588T>G (p.Arg196=) c.-315T>G (n.-315T>G) | |
| 1 | g.7803125T= | CA1152038733 | PER3 | c.951T= (p.Arg317=) c.948T= (p.Arg316=) n.75T= c.-7T= (n.-7T=) c.426T= (p.Arg142=) c.783T= (p.Arg261=) c.603T= (p.Arg201=) c.588T= (p.Arg196=) c.-315T= (n.-315T=) | |
| 1 | g.7803126del | CA2643043440 | PER3 | c.952del (p.Ser318LeufsTer2) c.949del (p.Ser317LeufsTer2) n.76del c.-6del (n.-6del) c.427del (p.Ser143LeufsTer2) c.784del (p.Ser262LeufsTer2) c.604del (p.Ser202LeufsTer2) c.589del (p.Ser197LeufsTer2) c.-314del (n.-314del) | gnomAD v4 |
| 1 | g.7803126T>A | CA338133966 | PER3 | c.952T>A (p.Ser318Thr) c.949T>A (p.Ser317Thr) n.76T>A c.-6T>A (n.-6T>A) c.427T>A (p.Ser143Thr) c.784T>A (p.Ser262Thr) c.604T>A (p.Ser202Thr) c.589T>A (p.Ser197Thr) c.-314T>A (n.-314T>A) | |
| 1 | g.7803126T>C | CA338133968 | PER3 | c.952T>C (p.Ser318Pro) c.949T>C (p.Ser317Pro) n.76T>C c.-6T>C (n.-6T>C) c.427T>C (p.Ser143Pro) c.784T>C (p.Ser262Pro) c.604T>C (p.Ser202Pro) c.589T>C (p.Ser197Pro) c.-314T>C (n.-314T>C) | |
| 1 | g.7803126T>G | CA338133963 | PER3 | c.952T>G (p.Ser318Ala) c.949T>G (p.Ser317Ala) n.76T>G c.-6T>G (n.-6T>G) c.427T>G (p.Ser143Ala) c.784T>G (p.Ser262Ala) c.604T>G (p.Ser202Ala) c.589T>G (p.Ser197Ala) c.-314T>G (n.-314T>G) | gnomAD v4 |
| 1 | g.7803127C>A | CA338133977 | PER3 | c.953C>A (p.Ser318Tyr) c.950C>A (p.Ser317Tyr) n.77C>A c.-5C>A (n.-5C>A) c.428C>A (p.Ser143Tyr) c.785C>A (p.Ser262Tyr) c.605C>A (p.Ser202Tyr) c.590C>A (p.Ser197Tyr) c.-313C>A (n.-313C>A) | gnomAD v4 |
| 1 | g.7803127C= | CA1152038734 | PER3 | c.953C= (p.Ser318=) c.950C= (p.Ser317=) n.77C= c.-5C= (n.-5C=) c.428C= (p.Ser143=) c.785C= (p.Ser262=) c.605C= (p.Ser202=) c.590C= (p.Ser197=) c.-313C= (n.-313C=) | |
| 1 | g.7803127C>G | CA338133982 | PER3 | c.953C>G (p.Ser318Cys) c.950C>G (p.Ser317Cys) n.77C>G c.-5C>G (n.-5C>G) c.428C>G (p.Ser143Cys) c.785C>G (p.Ser262Cys) c.605C>G (p.Ser202Cys) c.590C>G (p.Ser197Cys) c.-313C>G (n.-313C>G) | |
| 1 | g.7803127C>T | CA567928 | PER3 | c.953C>T (p.Ser318Phe) c.950C>T (p.Ser317Phe) n.77C>T c.-5C>T (n.-5C>T) c.428C>T (p.Ser143Phe) c.785C>T (p.Ser262Phe) c.605C>T (p.Ser202Phe) c.590C>T (p.Ser197Phe) c.-313C>T (n.-313C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.7803128T>A | CA415834069 | PER3 | c.954T>A (p.Ser318=) c.951T>A (p.Ser317=) n.78T>A c.-4T>A (n.-4T>A) c.429T>A (p.Ser143=) c.786T>A (p.Ser262=) c.606T>A (p.Ser202=) c.591T>A (p.Ser197=) c.-312T>A (n.-312T>A) | |
| 1 | g.7803128T>C | CA415834070 | PER3 | c.954T>C (p.Ser318=) c.951T>C (p.Ser317=) n.78T>C c.-4T>C (n.-4T>C) c.429T>C (p.Ser143=) c.786T>C (p.Ser262=) c.606T>C (p.Ser202=) c.591T>C (p.Ser197=) c.-312T>C (n.-312T>C) | |
| 1 | g.7803128T>G | CA415834071 | PER3 | c.954T>G (p.Ser318=) c.951T>G (p.Ser317=) n.78T>G c.-4T>G (n.-4T>G) c.429T>G (p.Ser143=) c.786T>G (p.Ser262=) c.606T>G (p.Ser202=) c.591T>G (p.Ser197=) c.-312T>G (n.-312T>G) | |
| 1 | g.7803129C>A | CA338133989 | PER3 | c.955C>A (p.Leu319Met) c.952C>A (p.Leu318Met) n.79C>A c.-3C>A (n.-3C>A) c.430C>A (p.Leu144Met) c.787C>A (p.Leu263Met) c.607C>A (p.Leu203Met) c.592C>A (p.Leu198Met) c.-311C>A (n.-311C>A) | |
| 1 | g.7803129C>G | CA338133996 | PER3 | c.955C>G (p.Leu319Val) c.952C>G (p.Leu318Val) n.79C>G c.-3C>G (n.-3C>G) c.430C>G (p.Leu144Val) c.787C>G (p.Leu263Val) c.607C>G (p.Leu203Val) c.592C>G (p.Leu198Val) c.-311C>G (n.-311C>G) | |
| 1 | g.7803129C>T | CA415834072 | PER3 | c.955C>T (p.Leu319=) c.952C>T (p.Leu318=) n.79C>T c.-3C>T (n.-3C>T) c.430C>T (p.Leu144=) c.787C>T (p.Leu263=) c.607C>T (p.Leu203=) c.592C>T (p.Leu198=) c.-311C>T (n.-311C>T) | |
| 1 | g.7803130T>A | CA338134015 | PER3 | c.956T>A (p.Leu319Gln) c.953T>A (p.Leu318Gln) n.80T>A c.-2T>A (n.-2T>A) c.431T>A (p.Leu144Gln) c.788T>A (p.Leu263Gln) c.608T>A (p.Leu203Gln) c.593T>A (p.Leu198Gln) c.-310T>A (n.-310T>A) | |
| 1 | g.7803130T>C | CA338134002 | PER3 | c.956T>C (p.Leu319Pro) c.953T>C (p.Leu318Pro) n.80T>C c.-2T>C (n.-2T>C) c.431T>C (p.Leu144Pro) c.788T>C (p.Leu263Pro) c.608T>C (p.Leu203Pro) c.593T>C (p.Leu198Pro) c.-310T>C (n.-310T>C) | |
| 1 | g.7803130T>G | CA338134006 | PER3 | c.956T>G (p.Leu319Arg) c.953T>G (p.Leu318Arg) n.80T>G c.-2T>G (n.-2T>G) c.431T>G (p.Leu144Arg) c.788T>G (p.Leu263Arg) c.608T>G (p.Leu203Arg) c.593T>G (p.Leu198Arg) c.-310T>G (n.-310T>G) | |
| 1 | g.7803131G>A | CA415834073 | PER3 | c.957G>A (p.Leu319=) c.954G>A (p.Leu318=) n.81G>A c.-1G>A (n.-1G>A) c.432G>A (p.Leu144=) c.789G>A (p.Leu263=) c.609G>A (p.Leu203=) c.594G>A (p.Leu198=) c.-309G>A (n.-309G>A) | gnomAD v4 |
| 1 | g.7803131G>C | CA415834074 | PER3 | c.957G>C (p.Leu319=) c.954G>C (p.Leu318=) n.81G>C c.-1G>C (n.-1G>C) c.432G>C (p.Leu144=) c.789G>C (p.Leu263=) c.609G>C (p.Leu203=) c.594G>C (p.Leu198=) c.-309G>C (n.-309G>C) | COSMIC |
| 1 | g.7803131G>T | CA415834075 | PER3 | c.957G>T (p.Leu319=) c.954G>T (p.Leu318=) n.81G>T c.-1G>T (n.-1G>T) c.432G>T (p.Leu144=) c.789G>T (p.Leu263=) c.609G>T (p.Leu203=) c.594G>T (p.Leu198=) c.-309G>T (n.-309G>T) | |
| 1 | g.7803132A= | CA1152038735 | PER3 | c.958A= (p.Met320=) c.955A= (p.Met319=) n.82A= c.1A= (p.Met1=) c.433A= (p.Met145=) c.790A= (p.Met264=) c.610A= (p.Met204=) c.595A= (p.Met199=) c.-308A= (n.-308A=) | |
| 1 | g.7803132A>C | CA338134020 | PER3 | c.958A>C (p.Met320Leu) c.955A>C (p.Met319Leu) n.82A>C c.1A>C (p.Met1Leu) c.433A>C (p.Met145Leu) c.790A>C (p.Met264Leu) c.610A>C (p.Met204Leu) c.595A>C (p.Met199Leu) c.-308A>C (n.-308A>C) | |
| 1 | g.7803132A>G | CA17254838 | PER3 | c.958A>G (p.Met320Val) c.955A>G (p.Met319Val) n.82A>G c.1A>G (p.Met1Val) c.433A>G (p.Met145Val) c.790A>G (p.Met264Val) c.610A>G (p.Met204Val) c.595A>G (p.Met199Val) c.-308A>G (n.-308A>G) | dbSNP |
| 1 | g.7803132A>T | CA17254842 | PER3 | c.958A>T (p.Met320Leu) c.955A>T (p.Met319Leu) n.82A>T c.1A>T (p.Met1Leu) c.433A>T (p.Met145Leu) c.790A>T (p.Met264Leu) c.610A>T (p.Met204Leu) c.595A>T (p.Met199Leu) c.-308A>T (n.-308A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.7803133T>A | CA338134034 | PER3 | c.959T>A (p.Met320Lys) c.956T>A (p.Met319Lys) n.83T>A c.2T>A (p.Met1Lys) c.434T>A (p.Met145Lys) c.791T>A (p.Met264Lys) c.611T>A (p.Met204Lys) c.596T>A (p.Met199Lys) c.-307T>A (n.-307T>A) | |
| 1 | g.7803133T>C | CA338134038 | PER3 | c.959T>C (p.Met320Thr) c.956T>C (p.Met319Thr) n.83T>C c.2T>C (p.Met1Thr) c.434T>C (p.Met145Thr) c.791T>C (p.Met264Thr) c.611T>C (p.Met204Thr) c.596T>C (p.Met199Thr) c.-307T>C (n.-307T>C) | |
| 1 | g.7803133T>G | CA338134042 | PER3 | c.959T>G (p.Met320Arg) c.956T>G (p.Met319Arg) n.83T>G c.2T>G (p.Met1Arg) c.434T>G (p.Met145Arg) c.791T>G (p.Met264Arg) c.611T>G (p.Met204Arg) c.596T>G (p.Met199Arg) c.-307T>G (n.-307T>G) | |
| 1 | g.7803134G>A | CA338134055 | PER3 | c.960G>A (p.Met320Ile) c.957G>A (p.Met319Ile) n.84G>A c.3G>A (p.Met1Ile) c.435G>A (p.Met145Ile) c.792G>A (p.Met264Ile) c.612G>A (p.Met204Ile) c.597G>A (p.Met199Ile) c.-306G>A (n.-306G>A) | gnomAD v4 |
| 1 | g.7803134G>C | CA338134075 | PER3 | c.960G>C (p.Met320Ile) c.957G>C (p.Met319Ile) n.84G>C c.3G>C (p.Met1Ile) c.435G>C (p.Met145Ile) c.792G>C (p.Met264Ile) c.612G>C (p.Met204Ile) c.597G>C (p.Met199Ile) c.-306G>C (n.-306G>C) | |
| 1 | g.7803134G>T | CA338134051 | PER3 | c.960G>T (p.Met320Ile) c.957G>T (p.Met319Ile) n.84G>T c.3G>T (p.Met1Ile) c.435G>T (p.Met145Ile) c.792G>T (p.Met264Ile) c.612G>T (p.Met204Ile) c.597G>T (p.Met199Ile) c.-306G>T (n.-306G>T) | |
| 1 | g.7803135G>A | CA338134081 | PER3 | c.961G>A (p.Val321Ile) c.958G>A (p.Val320Ile) n.85G>A c.4G>A (p.Val2Ile) c.436G>A (p.Val146Ile) c.793G>A (p.Val265Ile) c.613G>A (p.Val205Ile) c.598G>A (p.Val200Ile) c.-305G>A (n.-305G>A) | |
| 1 | g.7803135G>C | CA338134106 | PER3 | c.961G>C (p.Val321Leu) c.958G>C (p.Val320Leu) n.85G>C c.4G>C (p.Val2Leu) c.436G>C (p.Val146Leu) c.793G>C (p.Val265Leu) c.613G>C (p.Val205Leu) c.598G>C (p.Val200Leu) c.-305G>C (n.-305G>C) | |
| 1 | g.7803135G>T | CA338134111 | PER3 | c.961G>T (p.Val321Phe) c.958G>T (p.Val320Phe) n.85G>T c.4G>T (p.Val2Phe) c.436G>T (p.Val146Phe) c.793G>T (p.Val265Phe) c.613G>T (p.Val205Phe) c.598G>T (p.Val200Phe) c.-305G>T (n.-305G>T) | |
| 1 | g.7803136T>A | CA338134119 | PER3 | c.962T>A (p.Val321Asp) c.959T>A (p.Val320Asp) n.86T>A c.5T>A (p.Val2Asp) c.437T>A (p.Val146Asp) c.794T>A (p.Val265Asp) c.614T>A (p.Val205Asp) c.599T>A (p.Val200Asp) c.-304T>A (n.-304T>A) | dbSNP |
| 1 | g.7803136T>C | CA338134130 | PER3 | c.962T>C (p.Val321Ala) c.959T>C (p.Val320Ala) n.86T>C c.5T>C (p.Val2Ala) c.437T>C (p.Val146Ala) c.794T>C (p.Val265Ala) c.614T>C (p.Val205Ala) c.599T>C (p.Val200Ala) c.-304T>C (n.-304T>C) | |
| 1 | g.7803136T>G | CA338134141 | PER3 | c.962T>G (p.Val321Gly) c.959T>G (p.Val320Gly) n.86T>G c.5T>G (p.Val2Gly) c.437T>G (p.Val146Gly) c.794T>G (p.Val265Gly) c.614T>G (p.Val205Gly) c.599T>G (p.Val200Gly) c.-304T>G (n.-304T>G) | |
| 1 | g.7803136T= | CA1152038736 | PER3 | c.962T= (p.Val321=) c.959T= (p.Val320=) n.86T= c.5T= (p.Val2=) c.437T= (p.Val146=) c.794T= (p.Val265=) c.614T= (p.Val205=) c.599T= (p.Val200=) c.-304T= (n.-304T=) | |
| 1 | g.7803137T>A | CA415834081 | PER3 | c.963T>A (p.Val321=) c.960T>A (p.Val320=) n.87T>A c.6T>A (p.Val2=) c.438T>A (p.Val146=) c.795T>A (p.Val265=) c.615T>A (p.Val205=) c.600T>A (p.Val200=) c.-303T>A (n.-303T>A) | |
| 1 | g.7803137T>C | CA415834080 | PER3 | c.963T>C (p.Val321=) c.960T>C (p.Val320=) n.87T>C c.6T>C (p.Val2=) c.438T>C (p.Val146=) c.795T>C (p.Val265=) c.615T>C (p.Val205=) c.600T>C (p.Val200=) c.-303T>C (n.-303T>C) | |
| 1 | g.7803137T>G | CA415834079 | PER3 | c.963T>G (p.Val321=) c.960T>G (p.Val320=) n.87T>G c.6T>G (p.Val2=) c.438T>G (p.Val146=) c.795T>G (p.Val265=) c.615T>G (p.Val205=) c.600T>G (p.Val200=) c.-303T>G (n.-303T>G) | |
| 1 | g.7803138G>A | CA338134150 | PER3 | c.964G>A (p.Ala322Thr) c.961G>A (p.Ala321Thr) n.88G>A c.7G>A (p.Ala3Thr) c.439G>A (p.Ala147Thr) c.796G>A (p.Ala266Thr) c.616G>A (p.Ala206Thr) c.601G>A (p.Ala201Thr) c.-302G>A (n.-302G>A) | gnomAD v4 |
| 1 | g.7803138G>C | CA338134147 | PER3 | c.964G>C (p.Ala322Pro) c.961G>C (p.Ala321Pro) n.88G>C c.7G>C (p.Ala3Pro) c.439G>C (p.Ala147Pro) c.796G>C (p.Ala266Pro) c.616G>C (p.Ala206Pro) c.601G>C (p.Ala201Pro) c.-302G>C (n.-302G>C) | |
| 1 | g.7803138G>T | CA338134149 | PER3 | c.964G>T (p.Ala322Ser) c.961G>T (p.Ala321Ser) n.88G>T c.7G>T (p.Ala3Ser) c.439G>T (p.Ala147Ser) c.796G>T (p.Ala266Ser) c.616G>T (p.Ala206Ser) c.601G>T (p.Ala201Ser) c.-302G>T (n.-302G>T) | |
| 1 | g.7803138_7803139delinsGC | CA1152038737 | PER3 | c.964_965delinsGC (p.Ala322=) c.961_962delinsGC (p.Ala321=) n.88_89delinsGC c.7_8delinsGC (p.Ala3=) c.439_440delinsGC (p.Ala147=) c.796_797delinsGC (p.Ala266=) c.616_617delinsGC (p.Ala206=) c.601_602delinsGC (p.Ala201=) c.-302_-301delinsGC (n.-302_-301delinsGC) | |
| 1 | g.7803139C>A | CA338134152 | PER3 | c.965C>A (p.Ala322Asp) c.962C>A (p.Ala321Asp) n.89C>A c.8C>A (p.Ala3Asp) c.440C>A (p.Ala147Asp) c.797C>A (p.Ala266Asp) c.617C>A (p.Ala206Asp) c.602C>A (p.Ala201Asp) c.-301C>A (n.-301C>A) | gnomAD v4 |
| 1 | g.7803139C>G | CA338134154 | PER3 | c.965C>G (p.Ala322Gly) c.962C>G (p.Ala321Gly) n.89C>G c.8C>G (p.Ala3Gly) c.440C>G (p.Ala147Gly) c.797C>G (p.Ala266Gly) c.617C>G (p.Ala206Gly) c.602C>G (p.Ala201Gly) c.-301C>G (n.-301C>G) | |
| 1 | g.7803139C>T | CA338134156 | PER3 | c.965C>T (p.Ala322Val) c.962C>T (p.Ala321Val) n.89C>T c.8C>T (p.Ala3Val) c.440C>T (p.Ala147Val) c.797C>T (p.Ala266Val) c.617C>T (p.Ala206Val) c.602C>T (p.Ala201Val) c.-301C>T (n.-301C>T) | gnomAD v4 |
| 1 | g.7803140dup | CA1152038738 | PER3 | c.966dup (p.Ile323HisfsTer15) c.963dup (p.Ile322HisfsTer15) n.90dup c.9dup (p.Ile4HisfsTer15) c.441dup (p.Ile148HisfsTer15) c.798dup (p.Ile267HisfsTer15) c.618dup (p.Ile207HisfsTer15) c.603dup (p.Ile202HisfsTer15) c.-300dup (n.-300dup) | dbSNP |
| 1 | g.7803140del | CA739064976 | PER3 | c.966del (p.Ile323TyrfsTer6) c.963del (p.Ile322TyrfsTer6) n.90del c.9del (p.Ile4TyrfsTer6) c.441del (p.Ile148TyrfsTer6) c.798del (p.Ile267TyrfsTer6) c.618del (p.Ile207TyrfsTer6) c.603del (p.Ile202TyrfsTer6) c.-300del (n.-300del) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.7803140C>A | CA415834083 | PER3 | c.966C>A (p.Ala322=) c.963C>A (p.Ala321=) n.90C>A c.9C>A (p.Ala3=) c.441C>A (p.Ala147=) c.798C>A (p.Ala266=) c.618C>A (p.Ala206=) c.603C>A (p.Ala201=) c.-300C>A (n.-300C>A) | gnomAD v4 |
| 1 | g.7803140C>G | CA415834084 | PER3 | c.966C>G (p.Ala322=) c.963C>G (p.Ala321=) n.90C>G c.9C>G (p.Ala3=) c.441C>G (p.Ala147=) c.798C>G (p.Ala266=) c.618C>G (p.Ala206=) c.603C>G (p.Ala201=) c.-300C>G (n.-300C>G) | |
| 1 | g.7803140C>T | CA415834085 | PER3 | c.966C>T (p.Ala322=) c.963C>T (p.Ala321=) n.90C>T c.9C>T (p.Ala3=) c.441C>T (p.Ala147=) c.798C>T (p.Ala266=) c.618C>T (p.Ala206=) c.603C>T (p.Ala201=) c.-300C>T (n.-300C>T) | gnomAD v4 |
| 1 | g.7803141A= | CA1152038739 | PER3 | c.967A= (p.Ile323=) c.964A= (p.Ile322=) n.91A= c.10A= (p.Ile4=) c.442A= (p.Ile148=) c.799A= (p.Ile267=) c.619A= (p.Ile207=) c.604A= (p.Ile202=) c.-299A= (n.-299A=) | |
| 1 | g.7803141A>C | CA338134161 | PER3 | c.967A>C (p.Ile323Leu) c.964A>C (p.Ile322Leu) n.91A>C c.10A>C (p.Ile4Leu) c.442A>C (p.Ile148Leu) c.799A>C (p.Ile267Leu) c.619A>C (p.Ile207Leu) c.604A>C (p.Ile202Leu) c.-299A>C (n.-299A>C) | |
| 1 | g.7803141A>G | CA338134165 | PER3 | c.967A>G (p.Ile323Val) c.964A>G (p.Ile322Val) n.91A>G c.10A>G (p.Ile4Val) c.442A>G (p.Ile148Val) c.799A>G (p.Ile267Val) c.619A>G (p.Ile207Val) c.604A>G (p.Ile202Val) c.-299A>G (n.-299A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.7803141A>T | CA338134167 | PER3 | c.967A>T (p.Ile323Leu) c.964A>T (p.Ile322Leu) n.91A>T c.10A>T (p.Ile4Leu) c.442A>T (p.Ile148Leu) c.799A>T (p.Ile267Leu) c.619A>T (p.Ile207Leu) c.604A>T (p.Ile202Leu) c.-299A>T (n.-299A>T) | gnomAD v4 |
| 1 | g.7803142T>A | CA338134172 | PER3 | c.968T>A (p.Ile323Lys) c.965T>A (p.Ile322Lys) n.92T>A c.11T>A (p.Ile4Lys) c.443T>A (p.Ile148Lys) c.800T>A (p.Ile267Lys) c.620T>A (p.Ile207Lys) c.605T>A (p.Ile202Lys) c.-298T>A (n.-298T>A) | |
| 1 | g.7803142T>C | CA338134189 | PER3 | c.968T>C (p.Ile323Thr) c.965T>C (p.Ile322Thr) n.92T>C c.11T>C (p.Ile4Thr) c.443T>C (p.Ile148Thr) c.800T>C (p.Ile267Thr) c.620T>C (p.Ile207Thr) c.605T>C (p.Ile202Thr) c.-298T>C (n.-298T>C) | |
| 1 | g.7803142T>G | CA338134177 | PER3 | c.968T>G (p.Ile323Arg) c.965T>G (p.Ile322Arg) n.92T>G c.11T>G (p.Ile4Arg) c.443T>G (p.Ile148Arg) c.800T>G (p.Ile267Arg) c.620T>G (p.Ile207Arg) c.605T>G (p.Ile202Arg) c.-298T>G (n.-298T>G) | |
| 1 | g.7803143A= | CA1152038740 | PER3 | c.969A= (p.Ile323=) c.966A= (p.Ile322=) n.93A= c.12A= (p.Ile4=) c.444A= (p.Ile148=) c.801A= (p.Ile267=) c.621A= (p.Ile207=) c.606A= (p.Ile202=) c.-297A= (n.-297A=) | |
| 1 | g.7803143A>C | CA415834086 | PER3 | c.969A>C (p.Ile323=) c.966A>C (p.Ile322=) n.93A>C c.12A>C (p.Ile4=) c.444A>C (p.Ile148=) c.801A>C (p.Ile267=) c.621A>C (p.Ile207=) c.606A>C (p.Ile202=) c.-297A>C (n.-297A>C) | |
| 1 | g.7803143A>G | CA567929 | PER3 | c.969A>G (p.Ile323Met) c.966A>G (p.Ile322Met) n.93A>G c.12A>G (p.Ile4Met) c.444A>G (p.Ile148Met) c.801A>G (p.Ile267Met) c.621A>G (p.Ile207Met) c.606A>G (p.Ile202Met) c.-297A>G (n.-297A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.7803143A>T | CA415834087 | PER3 | c.969A>T (p.Ile323=) c.966A>T (p.Ile322=) n.93A>T c.12A>T (p.Ile4=) c.444A>T (p.Ile148=) c.801A>T (p.Ile267=) c.621A>T (p.Ile207=) c.606A>T (p.Ile202=) c.-297A>T (n.-297A>T) | gnomAD v4 |
| 1 | g.7803144C>A | CA338134206 | PER3 | c.970C>A (p.His324Asn) c.967C>A (p.His323Asn) n.94C>A c.13C>A (p.His5Asn) c.445C>A (p.His149Asn) c.802C>A (p.His268Asn) c.622C>A (p.His208Asn) c.607C>A (p.His203Asn) c.-296C>A (n.-296C>A) | dbSNP gnomAD v4 |
| 1 | g.7803144C= | CA1152038741 | PER3 | c.970C= (p.His324=) c.967C= (p.His323=) n.94C= c.13C= (p.His5=) c.445C= (p.His149=) c.802C= (p.His268=) c.622C= (p.His208=) c.607C= (p.His203=) c.-296C= (n.-296C=) | |
| 1 | g.7803144C>G | CA338134210 | PER3 | c.970C>G (p.His324Asp) c.967C>G (p.His323Asp) n.94C>G c.13C>G (p.His5Asp) c.445C>G (p.His149Asp) c.802C>G (p.His268Asp) c.622C>G (p.His208Asp) c.607C>G (p.His203Asp) c.-296C>G (n.-296C>G) | |
| 1 | g.7803144C>T | CA338134226 | PER3 | c.970C>T (p.His324Tyr) c.967C>T (p.His323Tyr) n.94C>T c.13C>T (p.His5Tyr) c.445C>T (p.His149Tyr) c.802C>T (p.His268Tyr) c.622C>T (p.His208Tyr) c.607C>T (p.His203Tyr) c.-296C>T (n.-296C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.7803145A>C | CA338134227 | PER3 | c.971A>C (p.His324Pro) c.968A>C (p.His323Pro) n.95A>C c.14A>C (p.His5Pro) c.446A>C (p.His149Pro) c.803A>C (p.His268Pro) c.623A>C (p.His208Pro) c.608A>C (p.His203Pro) c.-295A>C (n.-295A>C) | |
| 1 | g.7803145A>G | CA338134228 | PER3 | c.971A>G (p.His324Arg) c.968A>G (p.His323Arg) n.95A>G c.14A>G (p.His5Arg) c.446A>G (p.His149Arg) c.803A>G (p.His268Arg) c.623A>G (p.His208Arg) c.608A>G (p.His203Arg) c.-295A>G (n.-295A>G) | |
| 1 | g.7803145A>T | CA338134229 | PER3 | c.971A>T (p.His324Leu) c.968A>T (p.His323Leu) n.95A>T c.14A>T (p.His5Leu) c.446A>T (p.His149Leu) c.803A>T (p.His268Leu) c.623A>T (p.His208Leu) c.608A>T (p.His203Leu) c.-295A>T (n.-295A>T) | |
| 1 | g.7803146C>A | CA338134230 | PER3 | c.972C>A (p.His324Gln) c.969C>A (p.His323Gln) n.96C>A c.15C>A (p.His5Gln) c.447C>A (p.His149Gln) c.804C>A (p.His268Gln) c.624C>A (p.His208Gln) c.609C>A (p.His203Gln) c.-294C>A (n.-294C>A) | gnomAD v4 |
| 1 | g.7803146C>G | CA338134231 | PER3 | c.972C>G (p.His324Gln) c.969C>G (p.His323Gln) n.96C>G c.15C>G (p.His5Gln) c.447C>G (p.His149Gln) c.804C>G (p.His268Gln) c.624C>G (p.His208Gln) c.609C>G (p.His203Gln) c.-294C>G (n.-294C>G) | |
| 1 | g.7803146C>T | CA415834089 | PER3 | c.972C>T (p.His324=) c.969C>T (p.His323=) n.96C>T c.15C>T (p.His5=) c.447C>T (p.His149=) c.804C>T (p.His268=) c.624C>T (p.His208=) c.609C>T (p.His203=) c.-294C>T (n.-294C>T) | gnomAD v4 |
| 1 | g.7803147C>A | CA338134232 | PER3 | c.973C>A (p.Gln325Lys) c.970C>A (p.Gln324Lys) n.97C>A c.16C>A (p.Gln6Lys) c.448C>A (p.Gln150Lys) c.805C>A (p.Gln269Lys) c.625C>A (p.Gln209Lys) c.610C>A (p.Gln204Lys) c.-293C>A (n.-293C>A) | gnomAD v4 |
| 1 | g.7803147C>G | CA338134248 | PER3 | c.973C>G (p.Gln325Glu) c.970C>G (p.Gln324Glu) n.97C>G c.16C>G (p.Gln6Glu) c.448C>G (p.Gln150Glu) c.805C>G (p.Gln269Glu) c.625C>G (p.Gln209Glu) c.610C>G (p.Gln204Glu) c.-293C>G (n.-293C>G) | |
| 1 | g.7803147C>T | CA338134259 | PER3 | c.973C>T (p.Gln325Ter) c.970C>T (p.Gln324Ter) n.97C>T c.16C>T (p.Gln6Ter) c.448C>T (p.Gln150Ter) c.805C>T (p.Gln269Ter) c.625C>T (p.Gln209Ter) c.610C>T (p.Gln204Ter) c.-293C>T (n.-293C>T) | |
| 1 | g.7803148A>C | CA338134262 | PER3 | c.974A>C (p.Gln325Pro) c.971A>C (p.Gln324Pro) n.98A>C c.17A>C (p.Gln6Pro) c.449A>C (p.Gln150Pro) c.806A>C (p.Gln269Pro) c.626A>C (p.Gln209Pro) c.611A>C (p.Gln204Pro) c.-292A>C (n.-292A>C) | gnomAD v4 |
| 1 | g.7803148A>G | CA338134270 | PER3 | c.974A>G (p.Gln325Arg) c.971A>G (p.Gln324Arg) n.98A>G c.17A>G (p.Gln6Arg) c.449A>G (p.Gln150Arg) c.806A>G (p.Gln269Arg) c.626A>G (p.Gln209Arg) c.611A>G (p.Gln204Arg) c.-292A>G (n.-292A>G) | |
| 1 | g.7803148A>T | CA338134268 | PER3 | c.974A>T (p.Gln325Leu) c.971A>T (p.Gln324Leu) n.98A>T c.17A>T (p.Gln6Leu) c.449A>T (p.Gln150Leu) c.806A>T (p.Gln269Leu) c.626A>T (p.Gln209Leu) c.611A>T (p.Gln204Leu) c.-292A>T (n.-292A>T) | |
| 1 | g.7803152del | CA2643043454 | PER3 | c.978del (p.Val327PhefsTer2) c.975del (p.Val326PhefsTer2) n.102del c.21del (p.Val8PhefsTer2) c.453del (p.Val152PhefsTer2) c.810del (p.Val271PhefsTer2) c.630del (p.Val211PhefsTer2) c.615del (p.Val206PhefsTer2) c.-288del (n.-288del) | gnomAD v4 |
| 1 | g.7803149A>C | CA338134278 | PER3 | c.975A>C (p.Gln325His) c.972A>C (p.Gln324His) n.99A>C c.18A>C (p.Gln6His) c.450A>C (p.Gln150His) c.807A>C (p.Gln269His) c.627A>C (p.Gln209His) c.612A>C (p.Gln204His) c.-291A>C (n.-291A>C) | |
| 1 | g.7803149A>G | CA415834090 | PER3 | c.975A>G (p.Gln325=) c.972A>G (p.Gln324=) n.99A>G c.18A>G (p.Gln6=) c.450A>G (p.Gln150=) c.807A>G (p.Gln269=) c.627A>G (p.Gln209=) c.612A>G (p.Gln204=) c.-291A>G (n.-291A>G) | |
| 1 | g.7803149A>T | CA338134279 | PER3 | c.975A>T (p.Gln325His) c.972A>T (p.Gln324His) n.99A>T c.18A>T (p.Gln6His) c.450A>T (p.Gln150His) c.807A>T (p.Gln269His) c.627A>T (p.Gln209His) c.612A>T (p.Gln204His) c.-291A>T (n.-291A>T) | |
| 1 | g.7803150A>C | CA338134280 | PER3 | c.976A>C (p.Lys326Gln) c.973A>C (p.Lys325Gln) n.100A>C c.19A>C (p.Lys7Gln) c.451A>C (p.Lys151Gln) c.808A>C (p.Lys270Gln) c.628A>C (p.Lys210Gln) c.613A>C (p.Lys205Gln) c.-290A>C (n.-290A>C) | |
| 1 | g.7803150A>G | CA338134284 | PER3 | c.976A>G (p.Lys326Glu) c.973A>G (p.Lys325Glu) n.100A>G c.19A>G (p.Lys7Glu) c.451A>G (p.Lys151Glu) c.808A>G (p.Lys270Glu) c.628A>G (p.Lys210Glu) c.613A>G (p.Lys205Glu) c.-290A>G (n.-290A>G) | |
| 1 | g.7803150A>T | CA338134292 | PER3 | c.976A>T (p.Lys326Ter) c.973A>T (p.Lys325Ter) n.100A>T c.19A>T (p.Lys7Ter) c.451A>T (p.Lys151Ter) c.808A>T (p.Lys270Ter) c.628A>T (p.Lys210Ter) c.613A>T (p.Lys205Ter) c.-290A>T (n.-290A>T) | |
| 1 | g.7803151A= | CA1152038742 | PER3 | c.977A= (p.Lys326=) c.974A= (p.Lys325=) n.101A= c.20A= (p.Lys7=) c.452A= (p.Lys151=) c.809A= (p.Lys270=) c.629A= (p.Lys210=) c.614A= (p.Lys205=) c.-289A= (n.-289A=) | |
| 1 | g.7803151A>C | CA338134296 | PER3 | c.977A>C (p.Lys326Thr) c.974A>C (p.Lys325Thr) n.101A>C c.20A>C (p.Lys7Thr) c.452A>C (p.Lys151Thr) c.809A>C (p.Lys270Thr) c.629A>C (p.Lys210Thr) c.614A>C (p.Lys205Thr) c.-289A>C (n.-289A>C) | |
| 1 | g.7803151A>G | CA338134304 | PER3 | c.977A>G (p.Lys326Arg) c.974A>G (p.Lys325Arg) n.101A>G c.20A>G (p.Lys7Arg) c.452A>G (p.Lys151Arg) c.809A>G (p.Lys270Arg) c.629A>G (p.Lys210Arg) c.614A>G (p.Lys205Arg) c.-289A>G (n.-289A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.7803151A>T | CA338134305 | PER3 | c.977A>T (p.Lys326Ile) c.974A>T (p.Lys325Ile) n.101A>T c.20A>T (p.Lys7Ile) c.452A>T (p.Lys151Ile) c.809A>T (p.Lys270Ile) c.629A>T (p.Lys210Ile) c.614A>T (p.Lys205Ile) c.-289A>T (n.-289A>T) | |
| 1 | g.7803152A>C | CA338134307 | PER3 | c.978A>C (p.Lys326Asn) c.975A>C (p.Lys325Asn) n.102A>C c.21A>C (p.Lys7Asn) c.453A>C (p.Lys151Asn) c.810A>C (p.Lys270Asn) c.630A>C (p.Lys210Asn) c.615A>C (p.Lys205Asn) c.-288A>C (n.-288A>C) | gnomAD v4 |
| 1 | g.7803152A>G | CA415834091 | PER3 | c.978A>G (p.Lys326=) c.975A>G (p.Lys325=) n.102A>G c.21A>G (p.Lys7=) c.453A>G (p.Lys151=) c.810A>G (p.Lys270=) c.630A>G (p.Lys210=) c.615A>G (p.Lys205=) c.-288A>G (n.-288A>G) | gnomAD v4 |
| 1 | g.7803152A>T | CA338134308 | PER3 | c.978A>T (p.Lys326Asn) c.975A>T (p.Lys325Asn) n.102A>T c.21A>T (p.Lys7Asn) c.453A>T (p.Lys151Asn) c.810A>T (p.Lys270Asn) c.630A>T (p.Lys210Asn) c.615A>T (p.Lys205Asn) c.-288A>T (n.-288A>T) | |
| 1 | g.7803153G>A | CA338134312 | PER3 | c.979G>A (p.Val327Ile) c.976G>A (p.Val326Ile) n.103G>A c.22G>A (p.Val8Ile) c.454G>A (p.Val152Ile) c.811G>A (p.Val271Ile) c.631G>A (p.Val211Ile) c.616G>A (p.Val206Ile) c.-287G>A (n.-287G>A) | |
| 1 | g.7803153G>C | CA338134316 | PER3 | c.979G>C (p.Val327Leu) c.976G>C (p.Val326Leu) n.103G>C c.22G>C (p.Val8Leu) c.454G>C (p.Val152Leu) c.811G>C (p.Val271Leu) c.631G>C (p.Val211Leu) c.616G>C (p.Val206Leu) c.-287G>C (n.-287G>C) | |
| 1 | g.7803153G>T | CA338134323 | PER3 | c.979G>T (p.Val327Phe) c.976G>T (p.Val326Phe) n.103G>T c.22G>T (p.Val8Phe) c.454G>T (p.Val152Phe) c.811G>T (p.Val271Phe) c.631G>T (p.Val211Phe) c.616G>T (p.Val206Phe) c.-287G>T (n.-287G>T) | |
| 1 | g.7803154G>A | CA338134338 | PER3 | c.979+1G>A (n.979+1G>A) c.976+1G>A (n.976+1G>A) n.103+1G>A c.22+1G>A (n.22+1G>A) c.454+1G>A (n.454+1G>A) c.811+1G>A (n.811+1G>A) c.631+1G>A (n.631+1G>A) c.616+1G>A (n.616+1G>A) c.-287+1G>A (n.-287+1G>A) | |
| 1 | g.7803154G>C | CA338134336 | PER3 | c.979+1G>C (n.979+1G>C) c.976+1G>C (n.976+1G>C) n.103+1G>C c.22+1G>C (n.22+1G>C) c.454+1G>C (n.454+1G>C) c.811+1G>C (n.811+1G>C) c.631+1G>C (n.631+1G>C) c.616+1G>C (n.616+1G>C) c.-287+1G>C (n.-287+1G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.7803154G= | CA1152038743 | PER3 | c.979+1G= (n.979+1G=) c.976+1G= (n.976+1G=) n.103+1G= c.22+1G= (n.22+1G=) c.454+1G= (n.454+1G=) c.811+1G= (n.811+1G=) c.631+1G= (n.631+1G=) c.616+1G= (n.616+1G=) c.-287+1G= (n.-287+1G=) | |
| 1 | g.7803154G>T | CA338134337 | PER3 | c.979+1G>T (n.979+1G>T) c.976+1G>T (n.976+1G>T) n.103+1G>T c.22+1G>T (n.22+1G>T) c.454+1G>T (n.454+1G>T) c.811+1G>T (n.811+1G>T) c.631+1G>T (n.631+1G>T) c.616+1G>T (n.616+1G>T) c.-287+1G>T (n.-287+1G>T) | |
| 1 | g.7803155T>A | CA338134340 | PER3 | c.979+2T>A (n.979+2T>A) c.976+2T>A (n.976+2T>A) n.103+2T>A c.22+2T>A (n.22+2T>A) c.454+2T>A (n.454+2T>A) c.811+2T>A (n.811+2T>A) c.631+2T>A (n.631+2T>A) c.616+2T>A (n.616+2T>A) c.-287+2T>A (n.-287+2T>A) | |
| 1 | g.7803155T>C | CA338134343 | PER3 | c.979+2T>C (n.979+2T>C) c.976+2T>C (n.976+2T>C) n.103+2T>C c.22+2T>C (n.22+2T>C) c.454+2T>C (n.454+2T>C) c.811+2T>C (n.811+2T>C) c.631+2T>C (n.631+2T>C) c.616+2T>C (n.616+2T>C) c.-287+2T>C (n.-287+2T>C) | |
| 1 | g.7803155T>G | CA338134345 | PER3 | c.979+2T>G (n.979+2T>G) c.976+2T>G (n.976+2T>G) n.103+2T>G c.22+2T>G (n.22+2T>G) c.454+2T>G (n.454+2T>G) c.811+2T>G (n.811+2T>G) c.631+2T>G (n.631+2T>G) c.616+2T>G (n.616+2T>G) c.-287+2T>G (n.-287+2T>G) | |
| 1 | g.7803155T= | CA1152038744 | PER3 | c.979+2T= (n.979+2T=) c.976+2T= (n.976+2T=) n.103+2T= c.22+2T= (n.22+2T=) c.454+2T= (n.454+2T=) c.811+2T= (n.811+2T=) c.631+2T= (n.631+2T=) c.616+2T= (n.616+2T=) c.-287+2T= (n.-287+2T=) | |
| 1 | g.7803156C>A | CA2643043455 | PER3 | c.979+3C>A (n.979+3C>A) c.976+3C>A (n.976+3C>A) n.103+3C>A c.22+3C>A (n.22+3C>A) c.454+3C>A (n.454+3C>A) c.811+3C>A (n.811+3C>A) c.631+3C>A (n.631+3C>A) c.616+3C>A (n.616+3C>A) c.-287+3C>A (n.-287+3C>A) | gnomAD v4 |
| 1 | g.7803156C= | CA1152038745 | PER3 | c.979+3C= (n.979+3C=) c.976+3C= (n.976+3C=) n.103+3C= c.22+3C= (n.22+3C=) c.454+3C= (n.454+3C=) c.811+3C= (n.811+3C=) c.631+3C= (n.631+3C=) c.616+3C= (n.616+3C=) c.-287+3C= (n.-287+3C=) | |
| 1 | g.7803156C>G | CA998282466 | PER3 | c.979+3C>G (n.979+3C>G) c.976+3C>G (n.976+3C>G) n.103+3C>G c.22+3C>G (n.22+3C>G) c.454+3C>G (n.454+3C>G) c.811+3C>G (n.811+3C>G) c.631+3C>G (n.631+3C>G) c.616+3C>G (n.616+3C>G) c.-287+3C>G (n.-287+3C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.7803156C>T | CA2643043456 | PER3 | c.979+3C>T (n.979+3C>T) c.976+3C>T (n.976+3C>T) n.103+3C>T c.22+3C>T (n.22+3C>T) c.454+3C>T (n.454+3C>T) c.811+3C>T (n.811+3C>T) c.631+3C>T (n.631+3C>T) c.616+3C>T (n.616+3C>T) c.-287+3C>T (n.-287+3C>T) | gnomAD v4 |
| 1 | g.7803156dup | CA520784720 | PER3 | c.979+3dup (n.979+3dup) c.976+3dup (n.976+3dup) n.103+3dup c.22+3dup (n.22+3dup) c.454+3dup (n.454+3dup) c.811+3dup (n.811+3dup) c.631+3dup (n.631+3dup) c.616+3dup (n.616+3dup) c.-287+3dup (n.-287+3dup) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.7803157del | CA2574197653 | PER3 | c.979+4del (n.979+4del) c.976+4del (n.976+4del) n.103+4del c.22+4del (n.22+4del) c.454+4del (n.454+4del) c.811+4del (n.811+4del) c.631+4del (n.631+4del) c.616+4del (n.616+4del) c.-287+4del (n.-287+4del) | |
| 1 | g.7803157A>G | CA2643043457 | PER3 | c.979+4A>G (n.979+4A>G) c.976+4A>G (n.976+4A>G) n.103+4A>G c.22+4A>G (n.22+4A>G) c.454+4A>G (n.454+4A>G) c.811+4A>G (n.811+4A>G) c.631+4A>G (n.631+4A>G) c.616+4A>G (n.616+4A>G) c.-287+4A>G (n.-287+4A>G) | gnomAD v4 |
| 1 | g.7803158G>A | CA2643043458 | PER3 | c.979+5G>A (n.979+5G>A) c.976+5G>A (n.976+5G>A) n.103+5G>A c.22+5G>A (n.22+5G>A) c.454+5G>A (n.454+5G>A) c.811+5G>A (n.811+5G>A) c.631+5G>A (n.631+5G>A) c.616+5G>A (n.616+5G>A) c.-287+5G>A (n.-287+5G>A) | gnomAD v4 |
| 1 | g.7803158G>T | CA2643043459 | PER3 | c.979+5G>T (n.979+5G>T) c.976+5G>T (n.976+5G>T) n.103+5G>T c.22+5G>T (n.22+5G>T) c.454+5G>T (n.454+5G>T) c.811+5G>T (n.811+5G>T) c.631+5G>T (n.631+5G>T) c.616+5G>T (n.616+5G>T) c.-287+5G>T (n.-287+5G>T) | gnomAD v4 |
| 1 | g.7803159G>A | CA1152038747 | PER3 | c.979+6G>A (n.979+6G>A) c.976+6G>A (n.976+6G>A) n.103+6G>A c.22+6G>A (n.22+6G>A) c.454+6G>A (n.454+6G>A) c.811+6G>A (n.811+6G>A) c.631+6G>A (n.631+6G>A) c.616+6G>A (n.616+6G>A) c.-287+6G>A (n.-287+6G>A) | dbSNP |
| 1 | g.7803159G>C | CA567930 | PER3 | c.979+6G>C (n.979+6G>C) c.976+6G>C (n.976+6G>C) n.103+6G>C c.22+6G>C (n.22+6G>C) c.454+6G>C (n.454+6G>C) c.811+6G>C (n.811+6G>C) c.631+6G>C (n.631+6G>C) c.616+6G>C (n.616+6G>C) c.-287+6G>C (n.-287+6G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.7803159G= | CA1152038746 | PER3 | c.979+6G= (n.979+6G=) c.976+6G= (n.976+6G=) n.103+6G= c.22+6G= (n.22+6G=) c.454+6G= (n.454+6G=) c.811+6G= (n.811+6G=) c.631+6G= (n.631+6G=) c.616+6G= (n.616+6G=) c.-287+6G= (n.-287+6G=) | |
| 1 | g.7803160dup | CA2574197655 | PER3 | c.979+7dup (n.979+7dup) c.976+7dup (n.976+7dup) n.103+7dup c.22+7dup (n.22+7dup) c.454+7dup (n.454+7dup) c.811+7dup (n.811+7dup) c.631+7dup (n.631+7dup) c.616+7dup (n.616+7dup) c.-287+7dup (n.-287+7dup) | gnomAD v4 |
| 1 | g.7803161C>A | CA2643043460 | PER3 | c.979+8C>A (n.979+8C>A) c.976+8C>A (n.976+8C>A) n.103+8C>A c.22+8C>A (n.22+8C>A) c.454+8C>A (n.454+8C>A) c.811+8C>A (n.811+8C>A) c.631+8C>A (n.631+8C>A) c.616+8C>A (n.616+8C>A) c.-287+8C>A (n.-287+8C>A) | gnomAD v4 |
| 1 | g.7803161C= | CA1152038748 | PER3 | c.979+8C= (n.979+8C=) c.976+8C= (n.976+8C=) n.103+8C= c.22+8C= (n.22+8C=) c.454+8C= (n.454+8C=) c.811+8C= (n.811+8C=) c.631+8C= (n.631+8C=) c.616+8C= (n.616+8C=) c.-287+8C= (n.-287+8C=) | |
| 1 | g.7803161C>G | CA520784723 | PER3 | c.979+8C>G (n.979+8C>G) c.976+8C>G (n.976+8C>G) n.103+8C>G c.22+8C>G (n.22+8C>G) c.454+8C>G (n.454+8C>G) c.811+8C>G (n.811+8C>G) c.631+8C>G (n.631+8C>G) c.616+8C>G (n.616+8C>G) c.-287+8C>G (n.-287+8C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.7803161C>T | CA2574197656 | PER3 | c.979+8C>T (n.979+8C>T) c.976+8C>T (n.976+8C>T) n.103+8C>T c.22+8C>T (n.22+8C>T) c.454+8C>T (n.454+8C>T) c.811+8C>T (n.811+8C>T) c.631+8C>T (n.631+8C>T) c.616+8C>T (n.616+8C>T) c.-287+8C>T (n.-287+8C>T) | gnomAD v4 |
| 1 | g.7803162C>A | CA2643043461 | PER3 | c.979+9C>A (n.979+9C>A) c.976+9C>A (n.976+9C>A) n.103+9C>A c.22+9C>A (n.22+9C>A) c.454+9C>A (n.454+9C>A) c.811+9C>A (n.811+9C>A) c.631+9C>A (n.631+9C>A) c.616+9C>A (n.616+9C>A) c.-287+9C>A (n.-287+9C>A) | gnomAD v4 |
| 1 | g.7803162C= | CA1152038749 | PER3 | c.979+9C= (n.979+9C=) c.976+9C= (n.976+9C=) n.103+9C= c.22+9C= (n.22+9C=) c.454+9C= (n.454+9C=) c.811+9C= (n.811+9C=) c.631+9C= (n.631+9C=) c.616+9C= (n.616+9C=) c.-287+9C= (n.-287+9C=) | |
| 1 | g.7803162C>T | CA520784725 | PER3 | c.979+9C>T (n.979+9C>T) c.976+9C>T (n.976+9C>T) n.103+9C>T c.22+9C>T (n.22+9C>T) c.454+9C>T (n.454+9C>T) c.811+9C>T (n.811+9C>T) c.631+9C>T (n.631+9C>T) c.616+9C>T (n.616+9C>T) c.-287+9C>T (n.-287+9C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.7803163T>A | CA2643043462 | PER3 | c.979+10T>A (n.979+10T>A) c.976+10T>A (n.976+10T>A) n.103+10T>A c.22+10T>A (n.22+10T>A) c.454+10T>A (n.454+10T>A) c.811+10T>A (n.811+10T>A) c.631+10T>A (n.631+10T>A) c.616+10T>A (n.616+10T>A) c.-287+10T>A (n.-287+10T>A) | gnomAD v4 |
| 1 | g.7803163T>C | CA1152038751 | PER3 | c.979+10T>C (n.979+10T>C) c.976+10T>C (n.976+10T>C) n.103+10T>C c.22+10T>C (n.22+10T>C) c.454+10T>C (n.454+10T>C) c.811+10T>C (n.811+10T>C) c.631+10T>C (n.631+10T>C) c.616+10T>C (n.616+10T>C) c.-287+10T>C (n.-287+10T>C) | dbSNP gnomAD v4 |
| 1 | g.7803163T= | CA1152038750 | PER3 | c.979+10T= (n.979+10T=) c.976+10T= (n.976+10T=) n.103+10T= c.22+10T= (n.22+10T=) c.454+10T= (n.454+10T=) c.811+10T= (n.811+10T=) c.631+10T= (n.631+10T=) c.616+10T= (n.616+10T=) c.-287+10T= (n.-287+10T=) | |
| 1 | g.7803164A= | CA1144126571 | PER3 | c.979+11A= (n.979+11A=) c.976+11A= (n.976+11A=) n.103+11A= c.22+11A= (n.22+11A=) c.454+11A= (n.454+11A=) c.811+11A= (n.811+11A=) c.631+11A= (n.631+11A=) c.616+11A= (n.616+11A=) c.-287+11A= (n.-287+11A=) | |
| 1 | g.7803164A>G | CA2643043463 | PER3 | c.979+11A>G (n.979+11A>G) c.976+11A>G (n.976+11A>G) n.103+11A>G c.22+11A>G (n.22+11A>G) c.454+11A>G (n.454+11A>G) c.811+11A>G (n.811+11A>G) c.631+11A>G (n.631+11A>G) c.616+11A>G (n.616+11A>G) c.-287+11A>G (n.-287+11A>G) | gnomAD v4 |
| 1 | g.7803164A>T | CA2643043464 | PER3 | c.979+11A>T (n.979+11A>T) c.976+11A>T (n.976+11A>T) n.103+11A>T c.22+11A>T (n.22+11A>T) c.454+11A>T (n.454+11A>T) c.811+11A>T (n.811+11A>T) c.631+11A>T (n.631+11A>T) c.616+11A>T (n.616+11A>T) c.-287+11A>T (n.-287+11A>T) | gnomAD v4 |
| 1 | g.7803164dup | CA567931 | PER3 | c.979+11dup (n.979+11dup) c.976+11dup (n.976+11dup) n.103+11dup c.22+11dup (n.22+11dup) c.454+11dup (n.454+11dup) c.811+11dup (n.811+11dup) c.631+11dup (n.631+11dup) c.616+11dup (n.616+11dup) c.-287+11dup (n.-287+11dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.7803165C>A | CA2643043465 | PER3 | c.979+12C>A (n.979+12C>A) c.976+12C>A (n.976+12C>A) n.103+12C>A c.22+12C>A (n.22+12C>A) c.454+12C>A (n.454+12C>A) c.811+12C>A (n.811+12C>A) c.631+12C>A (n.631+12C>A) c.616+12C>A (n.616+12C>A) c.-287+12C>A (n.-287+12C>A) | gnomAD v4 |
| 1 | g.7803165C= | CA1152038752 | PER3 | c.979+12C= (n.979+12C=) c.976+12C= (n.976+12C=) n.103+12C= c.22+12C= (n.22+12C=) c.454+12C= (n.454+12C=) c.811+12C= (n.811+12C=) c.631+12C= (n.631+12C=) c.616+12C= (n.616+12C=) c.-287+12C= (n.-287+12C=) | |
| 1 | g.7803165C>G | CA567932 | PER3 | c.979+12C>G (n.979+12C>G) c.976+12C>G (n.976+12C>G) n.103+12C>G c.22+12C>G (n.22+12C>G) c.454+12C>G (n.454+12C>G) c.811+12C>G (n.811+12C>G) c.631+12C>G (n.631+12C>G) c.616+12C>G (n.616+12C>G) c.-287+12C>G (n.-287+12C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.7803165C>T | CA739065025 | PER3 | c.979+12C>T (n.979+12C>T) c.976+12C>T (n.976+12C>T) n.103+12C>T c.22+12C>T (n.22+12C>T) c.454+12C>T (n.454+12C>T) c.811+12C>T (n.811+12C>T) c.631+12C>T (n.631+12C>T) c.616+12C>T (n.616+12C>T) c.-287+12C>T (n.-287+12C>T) | dbSNP gnomAD v3 gnomAD v4 |