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 |
|---|---|---|---|---|---|
| 7 | g.95316698G>A | CA4350367 | PON1 | c.201+36C>T (n.201+36C>T) n.321+36C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.95316698G= | CA1727182062 | PON1 | c.201+36C= (n.201+36C=) n.321+36C= | |
| 7 | g.95316698G>T | CA2683802914 | PON1 | c.201+36C>A (n.201+36C>A) n.321+36C>A | gnomAD v4 |
| 7 | g.95316699T>C | CA1104655095 | PON1 | c.201+35A>G (n.201+35A>G) n.321+35A>G | gnomAD v3 gnomAD v4 |
| 7 | g.95316701C>G | CA2683802915 | PON1 | c.201+33G>C (n.201+33G>C) n.321+33G>C | gnomAD v4 |
| 7 | g.95316702T>C | CA1727182066 | PON1 | c.201+32A>G (n.201+32A>G) n.321+32A>G | dbSNP gnomAD v4 |
| 7 | g.95316702T= | CA1727182065 | PON1 | c.201+32A= (n.201+32A=) n.321+32A= | |
| 7 | g.95316704G>A | CA2683802916 | PON1 | c.201+30C>T (n.201+30C>T) n.321+30C>T | gnomAD v4 |
| 7 | g.95316704G>T | CA2683802917 | PON1 | c.201+30C>A (n.201+30C>A) n.321+30C>A | gnomAD v4 |
| 7 | g.95316705A>G | CA2578943940 | PON1 | c.201+29T>C (n.201+29T>C) n.321+29T>C | |
| 7 | g.95316707C= | CA1727182069 | PON1 | c.201+27G= (n.201+27G=) n.321+27G= | |
| 7 | g.95316707C>T | CA576336426 | PON1 | c.201+27G>A (n.201+27G>A) n.321+27G>A | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.95316711G>C | CA4350368 | PON1 | c.201+23C>G (n.201+23C>G) n.321+23C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.95316711G= | CA1727182073 | PON1 | c.201+23C= (n.201+23C=) n.321+23C= | |
| 7 | g.95316713A= | CA1727182079 | PON1 | c.201+21T= (n.201+21T=) n.321+21T= | |
| 7 | g.95316713A>C | CA4350369 | PON1 | c.201+21T>G (n.201+21T>G) n.321+21T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.95316715A>T | CA2565131620 | PON1 | c.201+19T>A (n.201+19T>A) n.321+19T>A | |
| 7 | g.95316716G>C | CA162907172 | PON1 | c.201+18C>G (n.201+18C>G) n.321+18C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.95316716G= | CA1727182082 | PON1 | c.201+18C= (n.201+18C=) n.321+18C= | |
| 7 | g.95316717T>A | CA2683802918 | PON1 | c.201+17A>T (n.201+17A>T) n.321+17A>T | gnomAD v4 |
| 7 | g.95316717T>C | CA4350370 | PON1 | c.201+17A>G (n.201+17A>G) n.321+17A>G | dbSNP ExAC gnomAD v2 |
| 7 | g.95316717T= | CA1727182083 | PON1 | c.201+17A= (n.201+17A=) n.321+17A= | |
| 7 | g.95316718G>A | CA4350372 | PON1 | c.201+16C>T (n.201+16C>T) n.321+16C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.95316718G= | CA1727182084 | PON1 | c.201+16C= (n.201+16C=) n.321+16C= | |
| 7 | g.95316718G>T | CA4350371 | PON1 | c.201+16C>A (n.201+16C>A) n.321+16C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.95316719A= | CA1727182087 | PON1 | c.201+15T= (n.201+15T=) n.321+15T= | |
| 7 | g.95316719A>G | CA576336427 | PON1 | c.201+15T>C (n.201+15T>C) n.321+15T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.95316726A= | CA1727182089 | PON1 | c.201+8T= (n.201+8T=) n.321+8T= | |
| 7 | g.95316726A>C | CA576336487 | PON1 | c.201+8T>G (n.201+8T>G) n.321+8T>G | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.95316726A>G | CA2683802919 | PON1 | c.201+8T>C (n.201+8T>C) n.321+8T>C | gnomAD v4 |
| 7 | g.95316727C>T | CA2683802920 | PON1 | c.201+7G>A (n.201+7G>A) n.321+7G>A | gnomAD v4 |
| 7 | g.95316730_95316733del | CA2543239554 | PON1 | c.201+4_201+7del (n.201+4_201+7del) n.321+4_321+7del | |
| 7 | g.95316728A= | CA1727182093 | PON1 | c.201+6T= (n.201+6T=) n.321+6T= | |
| 7 | g.95316728A>G | CA844090902 | PON1 | c.201+6T>C (n.201+6T>C) n.321+6T>C | dbSNP gnomAD v4 |
| 7 | g.95316729C= | CA1727182096 | PON1 | c.201+5G= (n.201+5G=) n.321+5G= | |
| 7 | g.95316729C>T | CA456496323 | PON1 | c.201+5G>A (n.201+5G>A) n.321+5G>A | dbSNP gnomAD v4 |
| 7 | g.95316730T>A | CA4350373 | PON1 | c.201+4A>T (n.201+4A>T) n.321+4A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.95316730T>C | CA2683802921 | PON1 | c.201+4A>G (n.201+4A>G) n.321+4A>G | gnomAD v4 |
| 7 | g.95316730T>G | CA162907198 | PON1 | c.201+4A>C (n.201+4A>C) n.321+4A>C | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.95316730T= | CA1727182101 | PON1 | c.201+4A= (n.201+4A=) n.321+4A= | |
| 7 | g.95316731C>T | CA2683802922 | PON1 | c.201+3G>A (n.201+3G>A) n.321+3G>A | gnomAD v4 |
| 7 | g.95316732A>C | CA368242731 | PON1 | c.201+2T>G (n.201+2T>G) n.321+2T>G | |
| 7 | g.95316732A>G | CA368242733 | PON1 | c.201+2T>C (n.201+2T>C) n.321+2T>C | |
| 7 | g.95316732A>T | CA368242735 | PON1 | c.201+2T>A (n.201+2T>A) n.321+2T>A | |
| 7 | g.95316733C>A | CA368242737 | PON1 | c.201+1G>T (n.201+1G>T) n.321+1G>T | |
| 7 | g.95316733C>G | CA368242738 | PON1 | c.201+1G>C (n.201+1G>C) n.321+1G>C | gnomAD v4 |
| 7 | g.95316733C>T | CA368242740 | PON1 | c.201+1G>A (n.201+1G>A) n.321+1G>A | |
| 7 | g.95316734A= | CA1727182104 | PON1 | c.201T= (p.Ser67=) n.321T= | |
| 7 | g.95316734A>C | CA456496324 | PON1 | c.201T>G (p.Ser67=) n.321T>G | |
| 7 | g.95316734A>G | CA456496325 | PON1 | c.201T>C (p.Ser67=) n.321T>C | dbSNP gnomAD v4 |
| 7 | g.95316734A>T | CA4350374 | PON1 | c.201T>A (p.Ser67=) n.321T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.95316735G>A | CA368242744 | PON1 | c.200C>T (p.Ser67Phe) n.320C>T | |
| 7 | g.95316735G>C | CA368242745 | PON1 | c.200C>G (p.Ser67Cys) n.320C>G | |
| 7 | g.95316735G>T | CA368242746 | PON1 | c.200C>A (p.Ser67Tyr) n.320C>A | |
| 7 | g.95316736A>C | CA368242747 | PON1 | c.199T>G (p.Ser67Ala) n.319T>G | |
| 7 | g.95316736A>G | CA368242748 | PON1 | c.199T>C (p.Ser67Pro) n.319T>C | gnomAD v4 |
| 7 | g.95316736A>T | CA368242751 | PON1 | c.199T>A (p.Ser67Thr) n.319T>A | |
| 7 | g.95316737G>A | CA456496326 | PON1 | c.198C>T (p.Ser66=) n.318C>T | |
| 7 | g.95316737G>C | CA368242755 | PON1 | c.198C>G (p.Ser66Arg) n.318C>G | |
| 7 | g.95316737G>T | CA368242760 | PON1 | c.198C>A (p.Ser66Arg) n.318C>A | |
| 7 | g.95316738C>A | CA368242763 | PON1 | c.197G>T (p.Ser66Ile) n.317G>T | |
| 7 | g.95316738C= | CA1727182107 | PON1 | c.197G= (p.Ser66=) n.317G= | |
| 7 | g.95316738C>G | CA368242766 | PON1 | c.197G>C (p.Ser66Thr) n.317G>C | |
| 7 | g.95316738C>T | CA368242770 | PON1 | c.197G>A (p.Ser66Asn) n.317G>A | dbSNP gnomAD v4 |
| 7 | g.95316739T>A | CA368242773 | PON1 | c.196A>T (p.Ser66Cys) n.316A>T | |
| 7 | g.95316739T>C | CA368242776 | PON1 | c.196A>G (p.Ser66Gly) n.316A>G | gnomAD v4 |
| 7 | g.95316739T>G | CA368242778 | PON1 | c.196A>C (p.Ser66Arg) n.316A>C | |
| 7 | g.95316740A= | CA1727182110 | PON1 | c.195T= (p.Ile65=) n.315T= | |
| 7 | g.95316740A>C | CA368242779 | PON1 | c.195T>G (p.Ile65Met) n.315T>G | |
| 7 | g.95316740A>G | CA456496327 | PON1 | c.195T>C (p.Ile65=) n.315T>C | |
| 7 | g.95316740A>T | CA456496328 | PON1 | c.195T>A (p.Ile65=) n.315T>A | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.95316741A>C | CA368242781 | PON1 | c.194T>G (p.Ile65Ser) n.314T>G | |
| 7 | g.95316741A>G | CA368242783 | PON1 | c.194T>C (p.Ile65Thr) n.314T>C | |
| 7 | g.95316741A>T | CA368242787 | PON1 | c.194T>A (p.Ile65Asn) n.314T>A | |
| 7 | g.95316742T>A | CA368242795 | PON1 | c.193A>T (p.Ile65Phe) n.313A>T | |
| 7 | g.95316742T>C | CA4350375 | PON1 | c.193A>G (p.Ile65Val) n.313A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.95316742T>G | CA368242801 | PON1 | c.193A>C (p.Ile65Leu) n.313A>C | |
| 7 | g.95316742T= | CA1727182112 | PON1 | c.193A= (p.Ile65=) n.313A= | |
| 7 | g.95316743del | CA2683802923 | PON1 | c.192del (p.Phe64LeufsTer6) c.192del (p.Phe64LeufsTer?) n.312del | gnomAD v4 |
| 7 | g.95316743G>A | CA4350376 | PON1 | c.192C>T (p.Phe64=) n.312C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.95316743G>C | CA368242814 | PON1 | c.192C>G (p.Phe64Leu) n.312C>G | |
| 7 | g.95316743G= | CA1727182115 | PON1 | c.192C= (p.Phe64=) n.312C= | |
| 7 | g.95316743G>T | CA368242810 | PON1 | c.192C>A (p.Phe64Leu) n.312C>A | |
| 7 | g.95316744A>C | CA368242817 | PON1 | c.191T>G (p.Phe64Cys) n.311T>G | |
| 7 | g.95316744A>G | CA368242821 | PON1 | c.191T>C (p.Phe64Ser) n.311T>C | |
| 7 | g.95316744A>T | CA368242819 | PON1 | c.191T>A (p.Phe64Tyr) n.311T>A | |
| 7 | g.95316745A>C | CA368242823 | PON1 | c.190T>G (p.Phe64Val) n.310T>G | |
| 7 | g.95316745A>G | CA368242839 | PON1 | c.190T>C (p.Phe64Leu) n.310T>C | gnomAD v4 |
| 7 | g.95316745A>T | CA368242841 | PON1 | c.190T>A (p.Phe64Ile) n.310T>A | |
| 7 | g.95316746A>C | CA456496329 | PON1 | c.189T>G (p.Ala63=) n.309T>G | |
| 7 | g.95316746A>G | CA456496330 | PON1 | c.189T>C (p.Ala63=) n.309T>C | |
| 7 | g.95316746A>T | CA456496331 | PON1 | c.189T>A (p.Ala63=) n.309T>A | |
| 7 | g.95316747G>A | CA368242842 | PON1 | c.188C>T (p.Ala63Val) n.308C>T | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.95316747G>C | CA368242843 | PON1 | c.188C>G (p.Ala63Gly) n.308C>G | dbSNP |
| 7 | g.95316747G= | CA1727182119 | PON1 | c.188C= (p.Ala63=) n.308C= | |
| 7 | g.95316747G>T | CA368242844 | PON1 | c.188C>A (p.Ala63Asp) n.308C>A | gnomAD v4 COSMIC |
| 7 | g.95316748C>A | CA368242846 | PON1 | c.187G>T (p.Ala63Ser) n.307G>T | |
| 7 | g.95316748C= | CA1727182125 | PON1 | c.187G= (p.Ala63=) n.307G= | |
| 7 | g.95316748C>G | CA368242848 | PON1 | c.187G>C (p.Ala63Pro) n.307G>C | |
| 7 | g.95316748C>T | CA368242851 | PON1 | c.187G>A (p.Ala63Thr) n.307G>A | dbSNP COSMIC |
| 7 | g.95316749C>A | CA456496332 | PON1 | c.186G>T (p.Leu62=) n.306G>T | |
| 7 | g.95316749C= | CA1727182129 | PON1 | c.186G= (p.Leu62=) n.306G= | |
| 7 | g.95316749C>G | CA456496333 | PON1 | c.186G>C (p.Leu62=) n.306G>C | |
| 7 | g.95316749C>T | CA456496334 | PON1 | c.186G>A (p.Leu62=) n.306G>A | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.95316750A= | CA1727182132 | PON1 | c.185T= (p.Leu62=) n.305T= | |
| 7 | g.95316750A>C | CA368242854 | PON1 | c.185T>G (p.Leu62Arg) n.305T>G | gnomAD v4 |
| 7 | g.95316750A>G | CA368242856 | PON1 | c.185T>C (p.Leu62Pro) n.305T>C | |
| 7 | g.95316750A>T | CA368242863 | PON1 | c.185T>A (p.Leu62Gln) n.305T>A | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.95316751G>A | CA456496335 | PON1 | c.184C>T (p.Leu62=) n.304C>T | |
| 7 | g.95316751G>C | CA368242865 | PON1 | c.184C>G (p.Leu62Val) n.304C>G | |
| 7 | g.95316751G>T | CA368242867 | PON1 | c.184C>A (p.Leu62Met) n.304C>A | |
| 7 | g.95316752T>A | CA456496337 | PON1 | c.183A>T (p.Gly61=) n.303A>T | |
| 7 | g.95316752T>C | CA456496338 | PON1 | c.183A>G (p.Gly61=) n.303A>G | gnomAD v4 |
| 7 | g.95316752T>G | CA162907220 | PON1 | c.183A>C (p.Gly61=) n.303A>C | dbSNP gnomAD v4 COSMIC |
| 7 | g.95316752T= | CA1727182136 | PON1 | c.183A= (p.Gly61=) n.303A= | |
| 7 | g.95316753C>A | CA368242878 | PON1 | c.182G>T (p.Gly61Val) n.302G>T | |
| 7 | g.95316753C>G | CA368242881 | PON1 | c.182G>C (p.Gly61Ala) n.302G>C | |
| 7 | g.95316753C>T | CA368242883 | PON1 | c.182G>A (p.Gly61Glu) n.302G>A | |
| 7 | g.95316754C>A | CA368242885 | PON1 | c.181G>T (p.Gly61Ter) n.301G>T | |
| 7 | g.95316754C>G | CA368242887 | PON1 | c.181G>C (p.Gly61Arg) n.301G>C | |
| 7 | g.95316754C>T | CA368242888 | PON1 | c.181G>A (p.Gly61Arg) n.301G>A | COSMIC |
| 7 | g.95316755A= | CA1727182140 | PON1 | c.180T= (p.Asn60=) n.300T= | |
| 7 | g.95316755A>C | CA368242891 | PON1 | c.180T>G (p.Asn60Lys) n.300T>G | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.95316755A>G | CA162907238 | PON1 | c.180T>C (p.Asn60=) n.300T>C | dbSNP |
| 7 | g.95316755A>T | CA368242895 | PON1 | c.180T>A (p.Asn60Lys) n.300T>A | |
| 7 | g.95316756T>A | CA368242900 | PON1 | c.179A>T (p.Asn60Ile) n.299A>T | |
| 7 | g.95316756T>C | CA368242903 | PON1 | c.179A>G (p.Asn60Ser) n.299A>G | |
| 7 | g.95316756T>G | CA368242898 | PON1 | c.179A>C (p.Asn60Thr) n.299A>C | |
| 7 | g.95316757T>A | CA368242904 | PON1 | c.178A>T (p.Asn60Tyr) n.298A>T | |
| 7 | g.95316757T>C | CA368242905 | PON1 | c.178A>G (p.Asn60Asp) n.298A>G | gnomAD v4 |
| 7 | g.95316757T>G | CA368242906 | PON1 | c.178A>C (p.Asn60His) n.298A>C | dbSNP |
| 7 | g.95316757T= | CA1727182146 | PON1 | c.178A= (p.Asn60=) n.298A= | |
| 7 | g.95316758A= | CA1727182149 | PON1 | c.177T= (p.Pro59=) n.297T= | |
| 7 | g.95316758A>C | CA456496339 | PON1 | c.177T>G (p.Pro59=) n.297T>G | |
| 7 | g.95316758A>G | CA456496340 | PON1 | c.177T>C (p.Pro59=) n.297T>C | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.95316758A>T | CA456496341 | PON1 | c.177T>A (p.Pro59=) n.297T>A | |
| 7 | g.95316759G>A | CA368242908 | PON1 | c.176C>T (p.Pro59Leu) n.296C>T | |
| 7 | g.95316759G>C | CA368242910 | PON1 | c.176C>G (p.Pro59Arg) n.296C>G | |
| 7 | g.95316759G>T | CA368242913 | PON1 | c.176C>A (p.Pro59His) n.296C>A | |
| 7 | g.95316760G>A | CA4350377 | PON1 | c.175C>T (p.Pro59Ser) n.295C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.95316760G>C | CA368242915 | PON1 | c.175C>G (p.Pro59Ala) n.295C>G | |
| 7 | g.95316760G= | CA1727182154 | PON1 | c.175C= (p.Pro59=) n.295C= | |
| 7 | g.95316760G>T | CA368242916 | PON1 | c.175C>A (p.Pro59Thr) n.295C>A | |
| 7 | g.95316761C>A | CA456496342 | PON1 | c.174G>T (p.Leu58=) n.294G>T | |
| 7 | g.95316761C= | CA1727182157 | PON1 | c.174G= (p.Leu58=) n.294G= | |
| 7 | g.95316761C>G | CA456496343 | PON1 | c.174G>C (p.Leu58=) n.294G>C | |
| 7 | g.95316761C>T | CA456496345 | PON1 | c.174G>A (p.Leu58=) n.294G>A | dbSNP gnomAD v4 |
| 7 | g.95316762A>C | CA368242919 | PON1 | c.173T>G (p.Leu58Arg) n.293T>G | |
| 7 | g.95316762A>G | CA368242920 | PON1 | c.173T>C (p.Leu58Pro) n.293T>C | |
| 7 | g.95316762A>T | CA368242921 | PON1 | c.173T>A (p.Leu58Gln) n.293T>A | |
| 7 | g.95316763del | CA2683802924 | PON1 | c.172del (p.Leu58CysfsTer12) c.172del (p.Leu58CysfsTer?) n.292del | gnomAD v4 |
| 7 | g.95316763G>A | CA456496346 | PON1 | c.172C>T (p.Leu58=) n.292C>T | |
| 7 | g.95316763G>C | CA368242922 | PON1 | c.172C>G (p.Leu58Val) n.292C>G | |
| 7 | g.95316763G>T | CA368242924 | PON1 | c.172C>A (p.Leu58Met) n.292C>A | gnomAD v4 |
| 7 | g.95316764T>A | CA456496347 | PON1 | c.171A>T (p.Ile57=) n.291A>T | |
| 7 | g.95316764T>C | CA368242926 | PON1 | c.171A>G (p.Ile57Met) n.291A>G | dbSNP |
| 7 | g.95316764T>G | CA456496348 | PON1 | c.171A>C (p.Ile57=) n.291A>C | dbSNP |
| 7 | g.95316764T= | CA1727182158 | PON1 | c.171A= (p.Ile57=) n.291A= | |
| 7 | g.95316765A>C | CA368242930 | PON1 | c.170T>G (p.Ile57Arg) n.290T>G | |
| 7 | g.95316765A>G | CA368242933 | PON1 | c.170T>C (p.Ile57Thr) n.290T>C | |
| 7 | g.95316765A>T | CA368242936 | PON1 | c.170T>A (p.Ile57Lys) n.290T>A | |
| 7 | g.95316766T>A | CA368242940 | PON1 | c.169A>T (p.Ile57Leu) n.289A>T | gnomAD v4 |
| 7 | g.95316766T>C | CA368242944 | PON1 | c.169A>G (p.Ile57Val) n.289A>G | |
| 7 | g.95316766T>G | CA368242946 | PON1 | c.169A>C (p.Ile57Leu) n.289A>C | |
| 7 | g.95316767C>A | CA368242949 | PON1 | c.168G>T (p.Glu56Asp) n.288G>T | |
| 7 | g.95316767C>G | CA368242952 | PON1 | c.168G>C (p.Glu56Asp) n.288G>C | |
| 7 | g.95316767C>T | CA456496349 | PON1 | c.168G>A (p.Glu56=) n.288G>A | gnomAD v4 |
| 7 | g.95316768T>A | CA368242953 | PON1 | c.167A>T (p.Glu56Val) n.287A>T | |
| 7 | g.95316768T>C | CA368242954 | PON1 | c.167A>G (p.Glu56Gly) n.287A>G | COSMIC |
| 7 | g.95316768T>G | CA368242955 | PON1 | c.167A>C (p.Glu56Ala) n.287A>C | |
| 7 | g.95316769C>A | CA368242956 | PON1 | c.166G>T (p.Glu56Ter) n.286G>T | |
| 7 | g.95316769C= | CA1727182161 | PON1 | c.166G= (p.Glu56=) n.286G= | |
| 7 | g.95316769C>G | CA368242957 | PON1 | c.166G>C (p.Glu56Gln) n.286G>C | dbSNP gnomAD v4 |
| 7 | g.95316769C>T | CA368242958 | PON1 | c.166G>A (p.Glu56Lys) n.286G>A | |
| 7 | g.95316770C>A | CA368242961 | PON1 | c.165G>T (p.Leu55Phe) n.285G>T | |
| 7 | g.95316770C>G | CA368242963 | PON1 | c.165G>C (p.Leu55Phe) n.285G>C | |
| 7 | g.95316770C>T | CA456496350 | PON1 | c.165G>A (p.Leu55=) n.285G>A | gnomAD v4 COSMIC |
| 7 | g.95316770_95316772delinsCAA | CA1727182165 | PON1 | c.163_165delinsTTG (p.Leu55=) n.283_285delinsTTG | |
| 7 | g.95316771A>C | CA368242971 | PON1 | c.164T>G (p.Leu55Trp) n.284T>G | gnomAD v4 |
| 7 | g.95316771A>G | CA368242975 | PON1 | c.164T>C (p.Leu55Ser) n.284T>C | |
| 7 | g.95316771A>T | CA368242974 | PON1 | c.164T>A (p.Leu55Ter) n.284T>A | |
| 7 | g.95316771_95316772del | CA576336493 | PON1 | c.163_164del (p.Leu55GlyfsTer5) n.283_284del | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.95316772A= | CA1727182175 | PON1 | c.163T= (p.Leu55=) n.283T= | |
| 7 | g.95316772A>C | CA162907269 | PON1 | c.163T>G (p.Leu55Val) n.283T>G | dbSNP gnomAD v4 |
| 7 | g.95316772A>G | CA162907279 | PON1 | c.163T>C (p.Leu55=) n.283T>C | dbSNP gnomAD v4 |
| 7 | g.95316772A>T | CA123413 | PON1 | c.163T>A (p.Leu55Met) n.283T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.95316773G>A | CA456496352 | PON1 | c.162C>T (p.Asp54=) n.282C>T | |
| 7 | g.95316773G>C | CA368242981 | PON1 | c.162C>G (p.Asp54Glu) n.282C>G | |
| 7 | g.95316773G>T | CA368242983 | PON1 | c.162C>A (p.Asp54Glu) n.282C>A | |
| 7 | g.95316774T>A | CA368242986 | PON1 | c.161A>T (p.Asp54Val) n.281A>T | |
| 7 | g.95316774T>C | CA368242988 | PON1 | c.161A>G (p.Asp54Gly) n.281A>G | |
| 7 | g.95316774T>G | CA368243010 | PON1 | c.161A>C (p.Asp54Ala) n.281A>C | |
| 7 | g.95316775C>A | CA368243014 | PON1 | c.160G>T (p.Asp54Tyr) n.280G>T | |
| 7 | g.95316775C>G | CA368243019 | PON1 | c.160G>C (p.Asp54His) n.280G>C | |
| 7 | g.95316775C>T | CA368243021 | PON1 | c.160G>A (p.Asp54Asn) n.280G>A | gnomAD v4 |
| 7 | g.95316776T>A | CA368243022 | PON1 | c.159A>T (p.Glu53Asp) n.279A>T | |
| 7 | g.95316776T>C | CA456496356 | PON1 | c.159A>G (p.Glu53=) n.279A>G | |
| 7 | g.95316776T>G | CA368243025 | PON1 | c.159A>C (p.Glu53Asp) n.279A>C | |
| 7 | g.95316777T>A | CA368243031 | PON1 | c.158A>T (p.Glu53Val) n.278A>T | |
| 7 | g.95316777T>C | CA368243033 | PON1 | c.158A>G (p.Glu53Gly) n.278A>G | |
| 7 | g.95316777T>G | CA368243035 | PON1 | c.158A>C (p.Glu53Ala) n.278A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.95316777T= | CA1727182183 | PON1 | c.158A= (p.Glu53=) n.278A= | |
| 7 | g.95316778C>A | CA368243040 | PON1 | c.157G>T (p.Glu53Ter) n.277G>T | |
| 7 | g.95316778C>G | CA368243046 | PON1 | c.157G>C (p.Glu53Gln) n.277G>C | |
| 7 | g.95316778C>T | CA368243043 | PON1 | c.157G>A (p.Glu53Lys) n.277G>A | |
| 7 | g.95316779A= | CA1727182187 | PON1 | c.156T= (p.Ser52=) n.276T= | |
| 7 | g.95316779A>C | CA456496359 | PON1 | c.156T>G (p.Ser52=) n.276T>G | dbSNP gnomAD v2 |
| 7 | g.95316779A>G | CA456496360 | PON1 | c.156T>C (p.Ser52=) n.276T>C | |
| 7 | g.95316779A>T | CA456496361 | PON1 | c.156T>A (p.Ser52=) n.276T>A | |
| 7 | g.95316780G>A | CA368243048 | PON1 | c.155C>T (p.Ser52Phe) n.275C>T | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.95316780G>C | CA368243050 | PON1 | c.155C>G (p.Ser52Cys) n.275C>G | |
| 7 | g.95316780G= | CA1727182190 | PON1 | c.155C= (p.Ser52=) n.275C= | |
| 7 | g.95316780G>T | CA368243051 | PON1 | c.155C>A (p.Ser52Tyr) n.275C>A | |
| 7 | g.95316781A>C | CA368243054 | PON1 | c.154T>G (p.Ser52Ala) n.274T>G | |
| 7 | g.95316781A>G | CA368243056 | PON1 | c.154T>C (p.Ser52Pro) n.274T>C | |
| 7 | g.95316781A>T | CA368243057 | PON1 | c.154T>A (p.Ser52Thr) n.274T>A | |
| 7 | g.95316782G>A | CA456496363 | PON1 | c.153C>T (p.Gly51=) n.273C>T | |
| 7 | g.95316782G>C | CA456496364 | PON1 | c.153C>G (p.Gly51=) n.273C>G | |
| 7 | g.95316782G>T | CA456496365 | PON1 | c.153C>A (p.Gly51=) n.273C>A | gnomAD v4 |
| 7 | g.95316783C>A | CA368243060 | PON1 | c.152G>T (p.Gly51Val) n.272G>T | |
| 7 | g.95316783C= | CA1727182196 | PON1 | c.152G= (p.Gly51=) n.272G= | |
| 7 | g.95316783C>G | CA368243061 | PON1 | c.152G>C (p.Gly51Ala) n.272G>C | |
| 7 | g.95316783C>T | CA4350378 | PON1 | c.152G>A (p.Gly51Asp) n.272G>A | dbSNP ExAC gnomAD v2 |
| 7 | g.95316784C>A | CA368243065 | PON1 | c.151G>T (p.Gly51Cys) n.271G>T | gnomAD v4 |
| 7 | g.95316784C>G | CA368243063 | PON1 | c.151G>C (p.Gly51Arg) n.271G>C | |
| 7 | g.95316784C>T | CA368243062 | PON1 | c.151G>A (p.Gly51Ser) n.271G>A | |
| 7 | g.95316785A>C | CA456496368 | PON1 | c.150T>G (p.Thr50=) n.270T>G | |
| 7 | g.95316785A>G | CA456496370 | PON1 | c.150T>C (p.Thr50=) n.270T>C | |
| 7 | g.95316785A>T | CA456496371 | PON1 | c.150T>A (p.Thr50=) n.270T>A | |
| 7 | g.95316786G>A | CA368243068 | PON1 | c.149C>T (p.Thr50Ile) n.269C>T | dbSNP |
| 7 | g.95316786G>C | CA368243070 | PON1 | c.149C>G (p.Thr50Ser) n.269C>G | |
| 7 | g.95316786G= | CA1727182199 | PON1 | c.149C= (p.Thr50=) n.269C= | |
| 7 | g.95316786G>T | CA368243071 | PON1 | c.149C>A (p.Thr50Asn) n.269C>A | |
| 7 | g.95316787T>A | CA368243077 | PON1 | c.148A>T (p.Thr50Ser) n.268A>T | |
| 7 | g.95316787T>C | CA368243079 | PON1 | c.148A>G (p.Thr50Ala) n.268A>G | |
| 7 | g.95316787T>G | CA368243081 | PON1 | c.148A>C (p.Thr50Pro) n.268A>C | |
| 7 | g.95316789del | CA2683802925 | PON1 | c.148del (p.Thr50LeufsTer20) c.148del (p.Thr50LeufsTer?) n.268del | gnomAD v4 |
| 7 | g.95316788T>A | CA368243085 | PON1 | c.147A>T (p.Glu49Asp) n.267A>T | |
| 7 | g.95316788T>C | CA456496374 | PON1 | c.147A>G (p.Glu49=) n.267A>G | gnomAD v4 |
| 7 | g.95316788T>G | CA368243083 | PON1 | c.147A>C (p.Glu49Asp) n.267A>C | |
| 7 | g.95316789T>A | CA368243086 | PON1 | c.146A>T (p.Glu49Val) n.266A>T | |
| 7 | g.95316789T>C | CA368243087 | PON1 | c.146A>G (p.Glu49Gly) n.266A>G | |
| 7 | g.95316789T>G | CA368243089 | PON1 | c.146A>C (p.Glu49Ala) n.266A>C | |
| 7 | g.95316790C>A | CA368243090 | PON1 | c.146-1G>T (n.146-1G>T) n.266-1G>T | COSMIC |
| 7 | g.95316790C>G | CA368243091 | PON1 | c.146-1G>C (n.146-1G>C) n.266-1G>C | |
| 7 | g.95316790C>T | CA368243093 | PON1 | c.146-1G>A (n.146-1G>A) n.266-1G>A | |
| 7 | g.95316791T>A | CA368243095 | PON1 | c.146-2A>T (n.146-2A>T) n.266-2A>T | |
| 7 | g.95316791T>C | CA162907336 | PON1 | c.146-2A>G (n.146-2A>G) n.266-2A>G | dbSNP gnomAD v4 |
| 7 | g.95316791T>G | CA368243097 | PON1 | c.146-2A>C (n.146-2A>C) n.266-2A>C | |
| 7 | g.95316791T= | CA1727182205 | PON1 | c.146-2A= (n.146-2A=) n.266-2A= | |
| 7 | g.95316792G>T | CA2683802926 | PON1 | c.146-3C>A (n.146-3C>A) n.266-3C>A | gnomAD v4 |
| 7 | g.95316793C>T | CA2683802928 | PON1 | c.146-4G>A (n.146-4G>A) n.266-4G>A | gnomAD v4 |
| 7 | g.95316794del | CA2683802927 | PON1 | c.146-4del (n.146-4del) n.266-4del | gnomAD v4 |
| 7 | g.95316795del | CA2683802929 | PON1 | c.146-6del (n.146-6del) n.266-6del | gnomAD v4 |
| 7 | g.95316796G>A | CA2777011839 | PON1 | c.146-7C>T (n.146-7C>T) n.266-7C>T | |
| 7 | g.95316796_95316798delinsGAA | CA1727182208 | PON1 | c.146-9_146-7delinsTTC (n.146-9_146-7delinsTTC) n.266-9_266-7delinsTTC | |
| 7 | g.95316797A>C | CA2578943942 | PON1 | c.146-8T>G (n.146-8T>G) n.266-8T>G | |
| 7 | g.95316797A>G | CA2683802930 | PON1 | c.146-8T>C (n.146-8T>C) n.266-8T>C | gnomAD v4 |
| 7 | g.95316799_95316800del | CA162907344 | PON1 | c.146-9_146-8del (n.146-9_146-8del) n.266-9_266-8del | dbSNP gnomAD v4 |