Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.69350131_69350132del | CA2619793930 | LYZ | c.160_161del (p.Ser54TrpfsTer17) | gnomAD v4 |
12 | g.69350132G>A | CA385725671 | LYZ | c.161G>A (p.Ser54Asn) | |
12 | g.69350132G>C | CA385725677 | LYZ | c.161G>C (p.Ser54Thr) | |
12 | g.69350132G= | CA2044298672 | LYZ | c.161G= (p.Ser54=) | |
12 | g.69350132G>T | CA385725674 | LYZ | c.161G>T (p.Ser54Ile) | |
12 | g.69350133T>A | CA385725679 | LYZ | c.162T>A (p.Ser54Arg) | |
12 | g.69350133T>C | CA480442664 | LYZ | c.162T>C (p.Ser54=) | |
12 | g.69350133T>G | CA385725681 | LYZ | c.162T>G (p.Ser54Arg) | COSMIC |
12 | g.69350134_69350137dup | CA2044298673 | LYZ | c.163_166dup (p.Tyr56TrpfsTer17) | dbSNP |
12 | g.69350134G>A | CA385725685 | LYZ | c.163G>A (p.Gly55Ser) | gnomAD v4 |
12 | g.69350134G>C | CA385725688 | LYZ | c.163G>C (p.Gly55Arg) | |
12 | g.69350134G>T | CA385725691 | LYZ | c.163G>T (p.Gly55Cys) | |
12 | g.69350135del | CA2619793931 | LYZ | c.164del (p.Gly55ValfsTer?) | gnomAD v4 |
12 | g.69350135G>A | CA385725696 | LYZ | c.164G>A (p.Gly55Asp) | |
12 | g.69350135G>C | CA385725698 | LYZ | c.164G>C (p.Gly55Ala) | |
12 | g.69350135G>T | CA385725700 | LYZ | c.164G>T (p.Gly55Val) | |
12 | g.69350136T>A | CA480442667 | LYZ | c.165T>A (p.Gly55=) | |
12 | g.69350136T>C | CA480442666 | LYZ | c.165T>C (p.Gly55=) | |
12 | g.69350136T>G | CA480442665 | LYZ | c.165T>G (p.Gly55=) | |
12 | g.69350137del | CA645594630 | LYZ | c.166del (p.Tyr56ThrfsTer?) | COSMIC |
12 | g.69350137T>A | CA385725702 | LYZ | c.166T>A (p.Tyr56Asn) | |
12 | g.69350137T>C | CA385725704 | LYZ | c.166T>C (p.Tyr56His) | |
12 | g.69350137T>G | CA385725705 | LYZ | c.166T>G (p.Tyr56Asp) | |
12 | g.69350138A>C | CA385725707 | LYZ | c.167A>C (p.Tyr56Ser) | |
12 | g.69350138A>G | CA385725710 | LYZ | c.167A>G (p.Tyr56Cys) | |
12 | g.69350138A>T | CA385725709 | LYZ | c.167A>T (p.Tyr56Phe) | |
12 | g.69350141_69350145del | CA2796430782 | LYZ | c.170_174del (p.Asn57ThrfsTer13) | |
12 | g.69350139C>A | CA385725712 | LYZ | c.168C>A (p.Tyr56Ter) | |
12 | g.69350139C>G | CA385725714 | LYZ | c.168C>G (p.Tyr56Ter) | |
12 | g.69350139C>T | CA480442668 | LYZ | c.168C>T (p.Tyr56=) | dbSNP |
12 | g.69350140A>C | CA385725715 | LYZ | c.169A>C (p.Asn57His) | |
12 | g.69350140A>G | CA385725717 | LYZ | c.169A>G (p.Asn57Asp) | dbSNP |
12 | g.69350140A>T | CA385725719 | LYZ | c.169A>T (p.Asn57Tyr) | |
12 | g.69350141A>C | CA385725721 | LYZ | c.170A>C (p.Asn57Thr) | |
12 | g.69350141A>G | CA385725723 | LYZ | c.170A>G (p.Asn57Ser) | |
12 | g.69350141A>T | CA385725725 | LYZ | c.170A>T (p.Asn57Ile) | COSMIC |
12 | g.69350142C>A | CA385725727 | LYZ | c.171C>A (p.Asn57Lys) | |
12 | g.69350142C>G | CA385725729 | LYZ | c.171C>G (p.Asn57Lys) | |
12 | g.69350142C>T | CA480442669 | LYZ | c.171C>T (p.Asn57=) | gnomAD v4 |
12 | g.69350143A>C | CA385725731 | LYZ | c.172A>C (p.Thr58Pro) | |
12 | g.69350143A>G | CA385725733 | LYZ | c.172A>G (p.Thr58Ala) | |
12 | g.69350143A>T | CA385725735 | LYZ | c.172A>T (p.Thr58Ser) | |
12 | g.69350144C>A | CA385725741 | LYZ | c.173C>A (p.Thr58Lys) | |
12 | g.69350144C>G | CA385725738 | LYZ | c.173C>G (p.Thr58Arg) | |
12 | g.69350144C>T | CA385725737 | LYZ | c.173C>T (p.Thr58Ile) | gnomAD v4 |
12 | g.69350145A>C | CA480442670 | LYZ | c.174A>C (p.Thr58=) | |
12 | g.69350145A>G | CA480442671 | LYZ | c.174A>G (p.Thr58=) | |
12 | g.69350145A>T | CA480442672 | LYZ | c.174A>T (p.Thr58=) | |
12 | g.69350146C>A | CA480442673 | LYZ | c.175C>A (p.Arg59=) | |
12 | g.69350146C= | CA2044298674 | LYZ | c.175C= (p.Arg59=) | |
12 | g.69350146C>G | CA385725743 | LYZ | c.175C>G (p.Arg59Gly) | |
12 | g.69350146C>T | CA6679732 | LYZ | c.175C>T (p.Arg59Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.69350147G>A | CA6679733 | LYZ | c.176G>A (p.Arg59Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.69350147G>C | CA385725747 | LYZ | c.176G>C (p.Arg59Pro) | gnomAD v4 |
12 | g.69350147G= | CA2044298675 | LYZ | c.176G= (p.Arg59=) | |
12 | g.69350147G>T | CA385725749 | LYZ | c.176G>T (p.Arg59Leu) | gnomAD v4 COSMIC |
12 | g.69350148A>C | CA480442674 | LYZ | c.177A>C (p.Arg59=) | |
12 | g.69350148A>G | CA480442676 | LYZ | c.177A>G (p.Arg59=) | |
12 | g.69350148A>T | CA480442675 | LYZ | c.177A>T (p.Arg59=) | |
12 | g.69350149G>A | CA6679734 | LYZ | c.178G>A (p.Ala60Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.69350149G>C | CA385725753 | LYZ | c.178G>C (p.Ala60Pro) | |
12 | g.69350149G= | CA2044298676 | LYZ | c.178G= (p.Ala60=) | |
12 | g.69350149G>T | CA385725754 | LYZ | c.178G>T (p.Ala60Ser) | |
12 | g.69350150C>A | CA385725756 | LYZ | c.179C>A (p.Ala60Asp) | |
12 | g.69350150C= | CA2044298677 | LYZ | c.179C= (p.Ala60=) | |
12 | g.69350150C>G | CA385725758 | LYZ | c.179C>G (p.Ala60Gly) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.69350150C>T | CA385725760 | LYZ | c.179C>T (p.Ala60Val) | |
12 | g.69350151T>A | CA480442677 | LYZ | c.180T>A (p.Ala60=) | |
12 | g.69350151T>C | CA6679735 | LYZ | c.180T>C (p.Ala60=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.69350151T>G | CA480442678 | LYZ | c.180T>G (p.Ala60=) | dbSNP |
12 | g.69350151T= | CA2044298678 | LYZ | c.180T= (p.Ala60=) | |
12 | g.69350151_69350154dup | CA605767528 | LYZ | c.180_183dup (p.Asn62TyrfsTer11) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.69350152A>C | CA385725767 | LYZ | c.181A>C (p.Thr61Pro) | |
12 | g.69350152A>G | CA385725765 | LYZ | c.181A>G (p.Thr61Ala) | |
12 | g.69350152A>T | CA385725764 | LYZ | c.181A>T (p.Thr61Ser) | |
12 | g.69350153C>A | CA385725770 | LYZ | c.182C>A (p.Thr61Lys) | |
12 | g.69350153C>G | CA385725771 | LYZ | c.182C>G (p.Thr61Arg) | |
12 | g.69350153C>T | CA385725773 | LYZ | c.182C>T (p.Thr61Ile) | |
12 | g.69350154A>C | CA480442679 | LYZ | c.183A>C (p.Thr61=) | |
12 | g.69350154A>G | CA480442680 | LYZ | c.183A>G (p.Thr61=) | gnomAD v4 |
12 | g.69350154A>T | CA480442681 | LYZ | c.183A>T (p.Thr61=) | |
12 | g.69350155A>C | CA385725776 | LYZ | c.184A>C (p.Asn62His) | gnomAD v4 |
12 | g.69350155A>G | CA385725777 | LYZ | c.184A>G (p.Asn62Asp) | gnomAD v4 |
12 | g.69350155A>T | CA385725779 | LYZ | c.184A>T (p.Asn62Tyr) | |
12 | g.69350156A>C | CA385725784 | LYZ | c.185A>C (p.Asn62Thr) | |
12 | g.69350156A>G | CA385725781 | LYZ | c.185A>G (p.Asn62Ser) | gnomAD v4 |
12 | g.69350156A>T | CA385725783 | LYZ | c.185A>T (p.Asn62Ile) | |
12 | g.69350157C>A | CA385725786 | LYZ | c.186C>A (p.Asn62Lys) | |
12 | g.69350157C= | CA2044298679 | LYZ | c.186C= (p.Asn62=) | |
12 | g.69350157C>G | CA385725787 | LYZ | c.186C>G (p.Asn62Lys) | |
12 | g.69350157C>T | CA238505285 | LYZ | c.186C>T (p.Asn62=) | dbSNP |
12 | g.69350158T>A | CA385725789 | LYZ | c.187T>A (p.Tyr63Asn) | |
12 | g.69350158T>C | CA385725791 | LYZ | c.187T>C (p.Tyr63His) | |
12 | g.69350158T>G | CA385725793 | LYZ | c.187T>G (p.Tyr63Asp) | |
12 | g.69350159A>C | CA385725795 | LYZ | c.188A>C (p.Tyr63Ser) | |
12 | g.69350159A>G | CA385725799 | LYZ | c.188A>G (p.Tyr63Cys) | ClinVar |
12 | g.69350159A>T | CA385725797 | LYZ | c.188A>T (p.Tyr63Phe) | |
12 | g.69350160C>A | CA385725801 | LYZ | c.189C>A (p.Tyr63Ter) | |
12 | g.69350160C>G | CA385725802 | LYZ | c.189C>G (p.Tyr63Ter) | |
12 | g.69350160C>T | CA480442682 | LYZ | c.189C>T (p.Tyr63=) | |
12 | g.69350161A= | CA2044298680 | LYZ | c.190A= (p.Asn64=) | |
12 | g.69350161A>C | CA385725805 | LYZ | c.190A>C (p.Asn64His) | |
12 | g.69350161A>G | CA385725807 | LYZ | c.190A>G (p.Asn64Asp) | gnomAD v4 |
12 | g.69350161A>T | CA385725808 | LYZ | c.190A>T (p.Asn64Tyr) | dbSNP |
12 | g.69350162A= | CA2044298681 | LYZ | c.191A= (p.Asn64=) | |
12 | g.69350162A>C | CA385725810 | LYZ | c.191A>C (p.Asn64Thr) | |
12 | g.69350162A>G | CA6679736 | LYZ | c.191A>G (p.Asn64Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.69350162A>T | CA385725813 | LYZ | c.191A>T (p.Asn64Ile) | |
12 | g.69350163T>A | CA385725816 | LYZ | c.192T>A (p.Asn64Lys) | |
12 | g.69350163T>C | CA6679737 | LYZ | c.192T>C (p.Asn64=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.69350163T>G | CA385725819 | LYZ | c.192T>G (p.Asn64Lys) | |
12 | g.69350163T= | CA2044298682 | LYZ | c.192T= (p.Asn64=) | |
12 | g.69350163_69350164del | CA948898702 | LYZ | c.192_193del (p.Ala65TrpfsTer6) | gnomAD v3 gnomAD v4 |
12 | g.69350164G>A | CA385725823 | LYZ | c.193G>A (p.Ala65Thr) | |
12 | g.69350164G>C | CA385725824 | LYZ | c.193G>C (p.Ala65Pro) | dbSNP |
12 | g.69350164G= | CA2044298683 | LYZ | c.193G= (p.Ala65=) | |
12 | g.69350164G>T | CA385725821 | LYZ | c.193G>T (p.Ala65Ser) | COSMIC |
12 | g.69350165C>A | CA385725826 | LYZ | c.194C>A (p.Ala65Asp) | |
12 | g.69350165C= | CA2044298684 | LYZ | c.194C= (p.Ala65=) | |
12 | g.69350165C>G | CA385725829 | LYZ | c.194C>G (p.Ala65Gly) | dbSNP |
12 | g.69350165C>T | CA385725828 | LYZ | c.194C>T (p.Ala65Val) | |
12 | g.69350165_69350166insCG | CA948898703 | LYZ | c.194_195insCG (p.Gly66ValfsTer?) | gnomAD v3 gnomAD v4 |
12 | g.69350166T>A | CA480442683 | LYZ | c.195T>A (p.Ala65=) | |
12 | g.69350166T>C | CA480442684 | LYZ | c.195T>C (p.Ala65=) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.69350166T>G | CA480442685 | LYZ | c.195T>G (p.Ala65=) | |
12 | g.69350166T= | CA2044298685 | LYZ | c.195T= (p.Ala65=) | |
12 | g.69350167G>A | CA385725831 | LYZ | c.196G>A (p.Gly66Arg) | gnomAD v4 |
12 | g.69350167G>C | CA385725834 | LYZ | c.196G>C (p.Gly66Arg) | |
12 | g.69350167G>T | CA385725832 | LYZ | c.196G>T (p.Gly66Ter) | |
12 | g.69350168G>A | CA385725836 | LYZ | c.197G>A (p.Gly66Glu) | |
12 | g.69350168G>C | CA385725838 | LYZ | c.197G>C (p.Gly66Ala) | |
12 | g.69350168G>T | CA385725840 | LYZ | c.197G>T (p.Gly66Val) | |
12 | g.69350169A= | CA2044298686 | LYZ | c.198A= (p.Gly66=) | |
12 | g.69350169A>C | CA480442686 | LYZ | c.198A>C (p.Gly66=) | |
12 | g.69350169A>G | CA480442687 | LYZ | c.198A>G (p.Gly66=) | |
12 | g.69350169A>T | CA6679738 | LYZ | c.198A>T (p.Gly66=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.69350170G>A | CA385725843 | LYZ | c.199G>A (p.Asp67Asn) | dbSNP gnomAD v4 |
12 | g.69350170G>C | CA123903 | LYZ | c.199G>C (p.Asp67His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.69350170G= | CA2044298687 | LYZ | c.199G= (p.Asp67=) | |
12 | g.69350170G>T | CA385725844 | LYZ | c.199G>T (p.Asp67Tyr) | |
12 | g.69350171A>C | CA385725846 | LYZ | c.200A>C (p.Asp67Ala) | |
12 | g.69350171A>G | CA385725848 | LYZ | c.200A>G (p.Asp67Gly) | |
12 | g.69350171A>T | CA385725849 | LYZ | c.200A>T (p.Asp67Val) | |
12 | g.69350172C>A | CA385725851 | LYZ | c.201C>A (p.Asp67Glu) | |
12 | g.69350172C>G | CA385725853 | LYZ | c.201C>G (p.Asp67Glu) | |
12 | g.69350172C>T | CA480442688 | LYZ | c.201C>T (p.Asp67=) | |
12 | g.69350173A= | CA2044298688 | LYZ | c.202A= (p.Arg68=) | |
12 | g.69350173A>C | CA480442689 | LYZ | c.202A>C (p.Arg68=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.69350173A>G | CA385725854 | LYZ | c.202A>G (p.Arg68Gly) | |
12 | g.69350173A>T | CA385725855 | LYZ | c.202A>T (p.Arg68Ter) | |
12 | g.69350174G>A | CA385725856 | LYZ | c.203G>A (p.Arg68Lys) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.69350174G>C | CA385725859 | LYZ | c.203G>C (p.Arg68Thr) | |
12 | g.69350174G= | CA2044298689 | LYZ | c.203G= (p.Arg68=) | |
12 | g.69350174G>T | CA385725860 | LYZ | c.203G>T (p.Arg68Ile) | |
12 | g.69350175A>C | CA385725862 | LYZ | c.204A>C (p.Arg68Ser) | |
12 | g.69350175A>G | CA480442690 | LYZ | c.204A>G (p.Arg68=) | gnomAD v4 |
12 | g.69350175A>T | CA385725863 | LYZ | c.204A>T (p.Arg68Ser) | |
12 | g.69350176A>C | CA385725864 | LYZ | c.205A>C (p.Ser69Arg) | |
12 | g.69350176A>G | CA385725865 | LYZ | c.205A>G (p.Ser69Gly) | |
12 | g.69350176A>T | CA385725866 | LYZ | c.205A>T (p.Ser69Cys) | |
12 | g.69350177G>A | CA385725867 | LYZ | c.206G>A (p.Ser69Asn) | |
12 | g.69350177G>C | CA385725869 | LYZ | c.206G>C (p.Ser69Thr) | |
12 | g.69350177G>T | CA385725870 | LYZ | c.206G>T (p.Ser69Ile) | COSMIC |
12 | g.69350178C>A | CA385725871 | LYZ | c.207C>A (p.Ser69Arg) | |
12 | g.69350178C= | CA2044298690 | LYZ | c.207C= (p.Ser69=) | |
12 | g.69350178C>G | CA385725873 | LYZ | c.207C>G (p.Ser69Arg) | dbSNP |
12 | g.69350178C>T | CA480442691 | LYZ | c.207C>T (p.Ser69=) | dbSNP |
12 | g.69350179A>C | CA385725879 | LYZ | c.208A>C (p.Thr70Pro) | |
12 | g.69350179A>G | CA385725876 | LYZ | c.208A>G (p.Thr70Ala) | |
12 | g.69350179A>T | CA385725877 | LYZ | c.208A>T (p.Thr70Ser) | |
12 | g.69350180C>A | CA385725882 | LYZ | c.209C>A (p.Thr70Asn) | |
12 | g.69350180C= | CA2044298691 | LYZ | c.209C= (p.Thr70=) | |
12 | g.69350180C>G | CA385725884 | LYZ | c.209C>G (p.Thr70Ser) | ClinVar dbSNP gnomAD v4 |
12 | g.69350180C>T | CA385725886 | LYZ | c.209C>T (p.Thr70Ile) | |
12 | g.69350181T>A | CA480442692 | LYZ | c.210T>A (p.Thr70=) | |
12 | g.69350181T>C | CA480442693 | LYZ | c.210T>C (p.Thr70=) | |
12 | g.69350181T>G | CA480442694 | LYZ | c.210T>G (p.Thr70=) | gnomAD v4 |
12 | g.69350182G>A | CA385725888 | LYZ | c.211G>A (p.Asp71Asn) | |
12 | g.69350182G>C | CA385725890 | LYZ | c.211G>C (p.Asp71His) | gnomAD v4 |
12 | g.69350182G>T | CA385725892 | LYZ | c.211G>T (p.Asp71Tyr) | |
12 | g.69350183A>C | CA385725897 | LYZ | c.212A>C (p.Asp71Ala) | |
12 | g.69350183A>G | CA385725894 | LYZ | c.212A>G (p.Asp71Gly) | gnomAD v4 |
12 | g.69350183A>T | CA385725896 | LYZ | c.212A>T (p.Asp71Val) | |
12 | g.69350184T>A | CA385725899 | LYZ | c.213T>A (p.Asp71Glu) | |
12 | g.69350184T>C | CA480442695 | LYZ | c.213T>C (p.Asp71=) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.69350184T>G | CA385725901 | LYZ | c.213T>G (p.Asp71Glu) | |
12 | g.69350184T= | CA2044298692 | LYZ | c.213T= (p.Asp71=) | |
12 | g.69350185T>A | CA385725903 | LYZ | c.214T>A (p.Tyr72Asn) | gnomAD v4 |
12 | g.69350185T>C | CA385725905 | LYZ | c.214T>C (p.Tyr72His) | |
12 | g.69350185T>G | CA385725907 | LYZ | c.214T>G (p.Tyr72Asp) | |
12 | g.69350186A= | CA2044298693 | LYZ | c.215A= (p.Tyr72=) | |
12 | g.69350186A>C | CA385725912 | LYZ | c.215A>C (p.Tyr72Ser) | |
12 | g.69350186A>G | CA385725909 | LYZ | c.215A>G (p.Tyr72Cys) | |
12 | g.69350186A>T | CA6679739 | LYZ | c.215A>T (p.Tyr72Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.69350187T>A | CA385725914 | LYZ | c.216T>A (p.Tyr72Ter) | |
12 | g.69350187T>C | CA480442696 | LYZ | c.216T>C (p.Tyr72=) | dbSNP |
12 | g.69350187T>G | CA385725916 | LYZ | c.216T>G (p.Tyr72Ter) | |
12 | g.69350187T= | CA2044298694 | LYZ | c.216T= (p.Tyr72=) | |
12 | g.69350188G>A | CA385725919 | LYZ | c.217G>A (p.Gly73Arg) | |
12 | g.69350188G>C | CA385725920 | LYZ | c.217G>C (p.Gly73Arg) | |
12 | g.69350188G>T | CA385725922 | LYZ | c.217G>T (p.Gly73Trp) | |
12 | g.69350189G>A | CA385725924 | LYZ | c.218G>A (p.Gly73Glu) | |
12 | g.69350189G>C | CA385725926 | LYZ | c.218G>C (p.Gly73Ala) | |
12 | g.69350189G>T | CA385725928 | LYZ | c.218G>T (p.Gly73Val) | |
12 | g.69350190G>A | CA6679740 | LYZ | c.219G>A (p.Gly73=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.69350190G>C | CA480442697 | LYZ | c.219G>C (p.Gly73=) | |
12 | g.69350190G= | CA2044298695 | LYZ | c.219G= (p.Gly73=) | |
12 | g.69350190G>T | CA480442698 | LYZ | c.219G>T (p.Gly73=) | dbSNP |
12 | g.69350191A>C | CA385725931 | LYZ | c.220A>C (p.Ile74Leu) | gnomAD v4 |
12 | g.69350191A>G | CA385725933 | LYZ | c.220A>G (p.Ile74Val) | |
12 | g.69350191A>T | CA385725935 | LYZ | c.220A>T (p.Ile74Leu) | gnomAD v4 |
12 | g.69350192T>A | CA385725937 | LYZ | c.221T>A (p.Ile74Lys) | gnomAD v4 |
12 | g.69350192T>C | CA123901 | LYZ | c.221T>C (p.Ile74Thr) | ClinVar dbSNP |
12 | g.69350192T>G | CA385725939 | LYZ | c.221T>G (p.Ile74Arg) | |
12 | g.69350192T= | CA2044298696 | LYZ | c.221T= (p.Ile74=) | |
12 | g.69350193A>C | CA480442699 | LYZ | c.222A>C (p.Ile74=) | |
12 | g.69350193A>G | CA385725940 | LYZ | c.222A>G (p.Ile74Met) | |
12 | g.69350193A>T | CA480442700 | LYZ | c.222A>T (p.Ile74=) | |
12 | g.69350195_69350201del | CA2575221443 | LYZ | c.224_230del (p.Phe75SerfsTer?) | |
12 | g.69350194T>A | CA123909 | LYZ | c.223T>A (p.Phe75Ile) | ClinVar dbSNP |
12 | g.69350194T>C | CA385725942 | LYZ | c.223T>C (p.Phe75Leu) | |
12 | g.69350194T>G | CA385725945 | LYZ | c.223T>G (p.Phe75Val) | |
12 | g.69350194T= | CA2044298697 | LYZ | c.223T= (p.Phe75=) | |
12 | g.69350195T>A | CA385725948 | LYZ | c.224T>A (p.Phe75Tyr) | |
12 | g.69350195T>C | CA385725950 | LYZ | c.224T>C (p.Phe75Ser) | |
12 | g.69350195T>G | CA385725951 | LYZ | c.224T>G (p.Phe75Cys) | |
12 | g.69350196T>A | CA385725956 | LYZ | c.225T>A (p.Phe75Leu) | |
12 | g.69350196T>C | CA6679741 | LYZ | c.225T>C (p.Phe75=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.69350196T>G | CA385725953 | LYZ | c.225T>G (p.Phe75Leu) | |
12 | g.69350196T= | CA2044298698 | LYZ | c.225T= (p.Phe75=) | |
12 | g.69350197C>A | CA385725958 | LYZ | c.226C>A (p.Gln76Lys) | |
12 | g.69350197C= | CA2044298699 | LYZ | c.226C= (p.Gln76=) | |
12 | g.69350197C>G | CA385725960 | LYZ | c.226C>G (p.Gln76Glu) | |
12 | g.69350197C>T | CA385725961 | LYZ | c.226C>T (p.Gln76Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.69350198A>C | CA385725962 | LYZ | c.227A>C (p.Gln76Pro) | |
12 | g.69350198A>G | CA385725964 | LYZ | c.227A>G (p.Gln76Arg) | |
12 | g.69350198A>T | CA385725965 | LYZ | c.227A>T (p.Gln76Leu) | |
12 | g.69350199G>A | CA6679742 | LYZ | c.228G>A (p.Gln76=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.69350199G>C | CA385725969 | LYZ | c.228G>C (p.Gln76His) | |
12 | g.69350199G= | CA2044298700 | LYZ | c.228G= (p.Gln76=) | |
12 | g.69350199G>T | CA385725967 | LYZ | c.228G>T (p.Gln76His) | |
12 | g.69350200A>C | CA385725972 | LYZ | c.229A>C (p.Ile77Leu) | |
12 | g.69350200A>G | CA385725974 | LYZ | c.229A>G (p.Ile77Val) | |
12 | g.69350200A>T | CA385725975 | LYZ | c.229A>T (p.Ile77Phe) | |
12 | g.69350201T>A | CA385725977 | LYZ | c.230T>A (p.Ile77Asn) | |
12 | g.69350201T>C | CA385725979 | LYZ | c.230T>C (p.Ile77Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.69350201T>G | CA385725981 | LYZ | c.230T>G (p.Ile77Ser) | |
12 | g.69350201T= | CA2044298701 | LYZ | c.230T= (p.Ile77=) | |
12 | g.69350202C>A | CA480442702 | LYZ | c.231C>A (p.Ile77=) | gnomAD v4 |
12 | g.69350202C>G | CA385725983 | LYZ | c.231C>G (p.Ile77Met) | |
12 | g.69350202C>T | CA480442701 | LYZ | c.231C>T (p.Ile77=) | |
12 | g.69350202_69350203delinsCA | CA2044298702 | LYZ | c.231_232delinsCA (p.Ile77=) | |
12 | g.69350203A>C | CA385725985 | LYZ | c.232A>C (p.Asn78His) | |
12 | g.69350203A>G | CA385725987 | LYZ | c.232A>G (p.Asn78Asp) | |
12 | g.69350203A>T | CA385725989 | LYZ | c.232A>T (p.Asn78Tyr) | |
12 | g.69350204del | CA2044298703 | LYZ | c.233del (p.Asn78IlefsTer?) c.233del (p.Asn78IlefsTer30) | dbSNP gnomAD v4 |
12 | g.69350204A= | CA2044298704 | LYZ | c.233A= (p.Asn78=) | |
12 | g.69350204A>C | CA385725994 | LYZ | c.233A>C (p.Asn78Thr) | |
12 | g.69350204A>G | CA6679743 | LYZ | c.233A>G (p.Asn78Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.69350204A>T | CA385725991 | LYZ | c.233A>T (p.Asn78Ile) | dbSNP gnomAD v2 |
12 | g.69350205T>A | CA385725996 | LYZ | c.234T>A (p.Asn78Lys) | |
12 | g.69350205T>C | CA480442703 | LYZ | c.234T>C (p.Asn78=) | gnomAD v4 |
12 | g.69350205T>G | CA385725998 | LYZ | c.234T>G (p.Asn78Lys) | |
12 | g.69350206A= | CA2044298705 | LYZ | c.235A= (p.Ser79=) | |
12 | g.69350206A>C | CA385726000 | LYZ | c.235A>C (p.Ser79Arg) | |
12 | g.69350206A>G | CA385726002 | LYZ | c.235A>G (p.Ser79Gly) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.69350206A>T | CA385726004 | LYZ | c.235A>T (p.Ser79Cys) | |
12 | g.69350206_69350207delinsAG | CA2044298706 | LYZ | c.235_236delinsAG (p.Ser79=) | |
12 | g.69350207del | CA2044298707 | LYZ | c.236del (p.Ser79ThrfsTer?) c.236del (p.Ser79ThrfsTer29) | dbSNP gnomAD v4 |
12 | g.69350207G>A | CA385726006 | LYZ | c.236G>A (p.Ser79Asn) | gnomAD v4 |
12 | g.69350207G>C | CA385726008 | LYZ | c.236G>C (p.Ser79Thr) | |
12 | g.69350207G>T | CA385726010 | LYZ | c.236G>T (p.Ser79Ile) | |
12 | g.69350208C>A | CA385726012 | LYZ | c.237C>A (p.Ser79Arg) | gnomAD v4 |
12 | g.69350208C>G | CA385726014 | LYZ | c.237C>G (p.Ser79Arg) | |
12 | g.69350208C>T | CA480442704 | LYZ | c.237C>T (p.Ser79=) | |
12 | g.69350209C>A | CA385726016 | LYZ | c.238C>A (p.Arg80Ser) | |
12 | g.69350209C= | CA2044298708 | LYZ | c.238C= (p.Arg80=) | |
12 | g.69350209C>G | CA385726017 | LYZ | c.238C>G (p.Arg80Gly) | |
12 | g.69350209C>T | CA238505340 | LYZ | c.238C>T (p.Arg80Cys) | dbSNP gnomAD v4 |
12 | g.69350210G>A | CA6679744 | LYZ | c.239G>A (p.Arg80His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.69350210G>C | CA385726020 | LYZ | c.239G>C (p.Arg80Pro) | |
12 | g.69350210G= | CA2044298709 | LYZ | c.239G= (p.Arg80=) | |
12 | g.69350210G>T | CA238505349 | LYZ | c.239G>T (p.Arg80Leu) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.69350211C>A | CA480442705 | LYZ | c.240C>A (p.Arg80=) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.69350211C= | CA2044298710 | LYZ | c.240C= (p.Arg80=) | |
12 | g.69350211C>G | CA480442706 | LYZ | c.240C>G (p.Arg80=) | |
12 | g.69350211C>T | CA480442707 | LYZ | c.240C>T (p.Arg80=) | |
12 | g.69350212T>A | CA385726024 | LYZ | c.241T>A (p.Tyr81Asn) | |
12 | g.69350212T>C | CA385726026 | LYZ | c.241T>C (p.Tyr81His) | |
12 | g.69350212T>G | CA385726028 | LYZ | c.241T>G (p.Tyr81Asp) | |
12 | g.69350213A= | CA2044298711 | LYZ | c.242A= (p.Tyr81=) | |
12 | g.69350213A>C | CA385726030 | LYZ | c.242A>C (p.Tyr81Ser) | |
12 | g.69350213A>G | CA385726031 | LYZ | c.242A>G (p.Tyr81Cys) | dbSNP |
12 | g.69350213A>T | CA385726033 | LYZ | c.242A>T (p.Tyr81Phe) | |
12 | g.69350214C>A | CA385726035 | LYZ | c.243C>A (p.Tyr81Ter) | |
12 | g.69350214C= | CA2044298712 | LYZ | c.243C= (p.Tyr81=) | |
12 | g.69350214C>G | CA385726037 | LYZ | c.243C>G (p.Tyr81Ter) | dbSNP gnomAD v4 |
12 | g.69350214C>T | CA480442708 | LYZ | c.243C>T (p.Tyr81=) | |
12 | g.69350215T>A | CA123912 | LYZ | c.244T>A (p.Trp82Arg) | ClinVar dbSNP |
12 | g.69350215T>C | CA123906 | LYZ | c.244T>C (p.Trp82Arg) | ClinVar dbSNP gnomAD v4 |
12 | g.69350215T>G | CA385726041 | LYZ | c.244T>G (p.Trp82Gly) | |
12 | g.69350215T= | CA2044298713 | LYZ | c.244T= (p.Trp82=) | |
12 | g.69350216G>A | CA385726043 | LYZ | c.245G>A (p.Trp82Ter) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.69350216G>C | CA385726047 | LYZ | c.245G>C (p.Trp82Ser) | |
12 | g.69350216G= | CA2044298714 | LYZ | c.245G= (p.Trp82=) | |
12 | g.69350216G>T | CA385726045 | LYZ | c.245G>T (p.Trp82Leu) | |
12 | g.69350217G>A | CA385726050 | LYZ | c.246G>A (p.Trp82Ter) | dbSNP |
12 | g.69350217G>C | CA385726052 | LYZ | c.246G>C (p.Trp82Cys) | |
12 | g.69350217G= | CA2044298715 | LYZ | c.246G= (p.Trp82=) | |
12 | g.69350217G>T | CA385726051 | LYZ | c.246G>T (p.Trp82Cys) | |
12 | g.69350218T>A | CA385726053 | LYZ | c.247T>A (p.Cys83Ser) | |
12 | g.69350218T>C | CA385726056 | LYZ | c.247T>C (p.Cys83Arg) | |
12 | g.69350218T>G | CA385726054 | LYZ | c.247T>G (p.Cys83Gly) | |
12 | g.69350219G>A | CA385726057 | LYZ | c.248G>A (p.Cys83Tyr) | gnomAD v4 |
12 | g.69350219G>C | CA385726059 | LYZ | c.248G>C (p.Cys83Ser) | |
12 | g.69350219G>T | CA385726061 | LYZ | c.248G>T (p.Cys83Phe) | |
12 | g.69350220T>A | CA385726063 | LYZ | c.249T>A (p.Cys83Ter) | |
12 | g.69350220T>C | CA480442709 | LYZ | c.249T>C (p.Cys83=) | gnomAD v4 |
12 | g.69350220T>G | CA385726065 | LYZ | c.249T>G (p.Cys83Trp) | |
12 | g.69350221A>C | CA385726067 | LYZ | c.250A>C (p.Asn84His) | |
12 | g.69350221A>G | CA385726069 | LYZ | c.250A>G (p.Asn84Asp) | gnomAD v4 |
12 | g.69350221A>T | CA385726072 | LYZ | c.250A>T (p.Asn84Tyr) | |
12 | g.69350222A>C | CA385726077 | LYZ | c.251A>C (p.Asn84Thr) | |
12 | g.69350222A>G | CA385726079 | LYZ | c.251A>G (p.Asn84Ser) | |
12 | g.69350222A>T | CA385726082 | LYZ | c.251A>T (p.Asn84Ile) | |
12 | g.69350223T>A | CA385726088 | LYZ | c.252T>A (p.Asn84Lys) | |
12 | g.69350223T>C | CA480442710 | LYZ | c.252T>C (p.Asn84=) | gnomAD v4 |
12 | g.69350223T>G | CA385726085 | LYZ | c.252T>G (p.Asn84Lys) | |
12 | g.69350224G>A | CA385726091 | LYZ | c.253G>A (p.Asp85Asn) | |
12 | g.69350224G>C | CA238505366 | LYZ | c.253G>C (p.Asp85His) | dbSNP |
12 | g.69350224G= | CA2044298716 | LYZ | c.253G= (p.Asp85=) | |
12 | g.69350224G>T | CA385726092 | LYZ | c.253G>T (p.Asp85Tyr) | |
12 | g.69350225A>C | CA385726095 | LYZ | c.254A>C (p.Asp85Ala) | |
12 | g.69350225A>G | CA385726098 | LYZ | c.254A>G (p.Asp85Gly) | |
12 | g.69350225A>T | CA385726102 | LYZ | c.254A>T (p.Asp85Val) | |
12 | g.69350226T>A | CA385726106 | LYZ | c.255T>A (p.Asp85Glu) | |
12 | g.69350226T>C | CA480442711 | LYZ | c.255T>C (p.Asp85=) | gnomAD v4 |
12 | g.69350226T>G | CA385726108 | LYZ | c.255T>G (p.Asp85Glu) | |
12 | g.69350227G>A | CA385726110 | LYZ | c.256G>A (p.Gly86Ser) | |
12 | g.69350227G>C | CA385726113 | LYZ | c.256G>C (p.Gly86Arg) | |
12 | g.69350227G>T | CA385726115 | LYZ | c.256G>T (p.Gly86Cys) | |
12 | g.69350228G>A | CA238505369 | LYZ | c.257G>A (p.Gly86Asp) | dbSNP |
12 | g.69350228G>C | CA385726118 | LYZ | c.257G>C (p.Gly86Ala) | |
12 | g.69350228G= | CA2044298717 | LYZ | c.257G= (p.Gly86=) | |
12 | g.69350228G>T | CA385726117 | LYZ | c.257G>T (p.Gly86Val) | |
12 | g.69350229C>A | CA480442712 | LYZ | c.258C>A (p.Gly86=) | COSMIC |
12 | g.69350229C= | CA2044298718 | LYZ | c.258C= (p.Gly86=) | |
12 | g.69350229C>G | CA480442713 | LYZ | c.258C>G (p.Gly86=) | dbSNP |
12 | g.69350229C>T | CA480442714 | LYZ | c.258C>T (p.Gly86=) | |
12 | g.69350230A>C | CA385726120 | LYZ | c.259A>C (p.Lys87Gln) | |
12 | g.69350230A>G | CA385726122 | LYZ | c.259A>G (p.Lys87Glu) | |
12 | g.69350230A>T | CA385726124 | LYZ | c.259A>T (p.Lys87Ter) | |
12 | g.69350231A>C | CA385726127 | LYZ | c.260A>C (p.Lys87Thr) | |
12 | g.69350231A>G | CA385726128 | LYZ | c.260A>G (p.Lys87Arg) | |
12 | g.69350231A>T | CA385726129 | LYZ | c.260A>T (p.Lys87Ile) | |
12 | g.69350232A>C | CA385726131 | LYZ | c.261A>C (p.Lys87Asn) | |
12 | g.69350232A>G | CA480442715 | LYZ | c.261A>G (p.Lys87=) | |
12 | g.69350232A>T | CA385726133 | LYZ | c.261A>T (p.Lys87Asn) |