Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.29702788_29702800del | CA2576739842 | C19orf12 | c.343_355del (p.Glu115SerfsTer8) n.734_746del c.151_163del (p.Glu51SerfsTer8) c.376_388del (p.Glu126SerfsTer8) c.291-3_300del c.505_517del (p.Glu169SerfsTer8) | gnomAD v4 |
19 | g.29702790_29702800del | CA2549114375 | C19orf12 | c.338_348del (p.Gly113=) c.338_348del (p.Gly113AlafsTer24) n.729_739del c.146_156del (p.Gly49AlafsTer24) c.371_381del (p.Gly124AlafsTer24) c.291-8_293del c.500_510del (p.Gly167AlafsTer24) | |
19 | g.29702798T>A | CA405142647 | C19orf12 | c.340A>T (p.Ser114Cys) n.731A>T c.148A>T (p.Ser50Cys) c.373A>T (p.Ser125Cys) c.291-6A>T (n.291-6A>T) c.502A>T (p.Ser168Cys) | |
19 | g.29702798T>C | CA405142649 | C19orf12 | c.340A>G (p.Ser114Gly) n.731A>G c.148A>G (p.Ser50Gly) c.373A>G (p.Ser125Gly) c.291-6A>G (n.291-6A>G) c.502A>G (p.Ser168Gly) | |
19 | g.29702798T>G | CA405142652 | C19orf12 | c.340A>C (p.Ser114Arg) n.731A>C c.148A>C (p.Ser50Arg) c.373A>C (p.Ser125Arg) c.291-6A>C (n.291-6A>C) c.502A>C (p.Ser168Arg) | |
19 | g.29702799G>A | CA506986834 | C19orf12 | c.339C>T (p.Gly113=) n.730C>T c.147C>T (p.Gly49=) c.372C>T (p.Gly124=) c.291-7C>T (n.291-7C>T) c.501C>T (p.Gly167=) | |
19 | g.29702799G>C | CA506986831 | C19orf12 | c.339C>G (p.Gly113=) n.730C>G c.147C>G (p.Gly49=) c.372C>G (p.Gly124=) c.291-7C>G (n.291-7C>G) c.501C>G (p.Gly167=) | |
19 | g.29702799G>T | CA506986829 | C19orf12 | c.339C>A (p.Gly113=) n.730C>A c.147C>A (p.Gly49=) c.372C>A (p.Gly124=) c.291-7C>A (n.291-7C>A) c.501C>A (p.Gly167=) | |
19 | g.29702800C>A | CA405142659 | C19orf12 | c.338G>T (p.Gly113Val) n.729G>T c.146G>T (p.Gly49Val) c.371G>T (p.Gly124Val) c.291-8G>T (n.291-8G>T) c.500G>T (p.Gly167Val) | |
19 | g.29702800C= | CA2330913543 | C19orf12 | c.338G= (p.Gly113=) n.729G= c.146G= (p.Gly49=) c.371G= (p.Gly124=) c.291-8G= (n.291-8G=) c.500G= (p.Gly167=) | |
19 | g.29702800C>G | CA405142657 | C19orf12 | c.338G>C (p.Gly113Ala) n.729G>C c.146G>C (p.Gly49Ala) c.371G>C (p.Gly124Ala) c.291-8G>C (n.291-8G>C) c.500G>C (p.Gly167Ala) | |
19 | g.29702800C>T | CA306785242 | C19orf12 | c.338G>A (p.Gly113Asp) n.729G>A c.146G>A (p.Gly49Asp) c.371G>A (p.Gly124Asp) c.291-8G>A (n.291-8G>A) c.500G>A (p.Gly167Asp) | dbSNP |
19 | g.29702801C>A | CA405142660 | C19orf12 | c.337G>T (p.Gly113Cys) n.728G>T c.145G>T (p.Gly49Cys) c.370G>T (p.Gly124Cys) c.291-9G>T (n.291-9G>T) c.499G>T (p.Gly167Cys) | |
19 | g.29702801C= | CA2330913544 | C19orf12 | c.337G= (p.Gly113=) n.728G= c.145G= (p.Gly49=) c.370G= (p.Gly124=) c.291-9G= (n.291-9G=) c.499G= (p.Gly167=) | |
19 | g.29702801C>G | CA405142663 | C19orf12 | c.337G>C (p.Gly113Arg) n.728G>C c.145G>C (p.Gly49Arg) c.370G>C (p.Gly124Arg) c.291-9G>C (n.291-9G>C) c.499G>C (p.Gly167Arg) | |
19 | g.29702801C>T | CA405142665 | C19orf12 | c.337G>A (p.Gly113Ser) n.728G>A c.145G>A (p.Gly49Ser) c.370G>A (p.Gly124Ser) c.291-9G>A (n.291-9G>A) c.499G>A (p.Gly167Ser) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.29702802C>A | CA405142667 | C19orf12 | c.336G>T (p.Met112Ile) n.727G>T c.144G>T (p.Met48Ile) c.369G>T (p.Met123Ile) c.291-10G>T (n.291-10G>T) c.498G>T (p.Met166Ile) | |
19 | g.29702802C= | CA2330913545 | C19orf12 | c.336G= (p.Met112=) n.727G= c.144G= (p.Met48=) c.369G= (p.Met123=) c.291-10G= (n.291-10G=) c.498G= (p.Met166=) | |
19 | g.29702802C>G | CA405142668 | C19orf12 | c.336G>C (p.Met112Ile) n.727G>C c.144G>C (p.Met48Ile) c.369G>C (p.Met123Ile) c.291-10G>C (n.291-10G>C) c.498G>C (p.Met166Ile) | |
19 | g.29702802C>T | CA405142671 | C19orf12 | c.336G>A (p.Met112Ile) n.727G>A c.144G>A (p.Met48Ile) c.369G>A (p.Met123Ile) c.291-10G>A (n.291-10G>A) c.498G>A (p.Met166Ile) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.29702803A= | CA2330913546 | C19orf12 | c.335T= (p.Met112=) n.726T= c.143T= (p.Met48=) c.368T= (p.Met123=) c.291-11T= (n.291-11T=) c.497T= (p.Met166=) | |
19 | g.29702803A>C | CA405142674 | C19orf12 | c.335T>G (p.Met112Arg) n.726T>G c.143T>G (p.Met48Arg) c.368T>G (p.Met123Arg) c.291-11T>G (n.291-11T>G) c.497T>G (p.Met166Arg) | |
19 | g.29702803A>G | CA405142676 | C19orf12 | c.335T>C (p.Met112Thr) n.726T>C c.143T>C (p.Met48Thr) c.368T>C (p.Met123Thr) c.291-11T>C (n.291-11T>C) c.497T>C (p.Met166Thr) | |
19 | g.29702803A>T | CA405142679 | C19orf12 | c.335T>A (p.Met112Lys) n.726T>A c.143T>A (p.Met48Lys) c.368T>A (p.Met123Lys) c.291-11T>A (n.291-11T>A) c.497T>A (p.Met166Lys) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.29702804T>A | CA405142682 | C19orf12 | c.334A>T (p.Met112Leu) n.725A>T c.142A>T (p.Met48Leu) c.367A>T (p.Met123Leu) c.291-12A>T (n.291-12A>T) c.496A>T (p.Met166Leu) | |
19 | g.29702804T>C | CA405142684 | C19orf12 | c.334A>G (p.Met112Val) n.725A>G c.142A>G (p.Met48Val) c.367A>G (p.Met123Val) c.291-12A>G (n.291-12A>G) c.496A>G (p.Met166Val) | ClinVar dbSNP |
19 | g.29702804T>G | CA405142686 | C19orf12 | c.334A>C (p.Met112Leu) n.725A>C c.142A>C (p.Met48Leu) c.367A>C (p.Met123Leu) c.291-12A>C (n.291-12A>C) c.496A>C (p.Met166Leu) | dbSNP |
19 | g.29702804T= | CA2330913547 | C19orf12 | c.334A= (p.Met112=) n.725A= c.142A= (p.Met48=) c.367A= (p.Met123=) c.291-12A= (n.291-12A=) c.496A= (p.Met166=) | |
19 | g.29702805G>A | CA506986867 | C19orf12 | c.333C>T (p.Val111=) n.724C>T c.141C>T (p.Val47=) c.366C>T (p.Val122=) c.291-13C>T (n.291-13C>T) c.495C>T (p.Val165=) | |
19 | g.29702805G>C | CA506986870 | C19orf12 | c.333C>G (p.Val111=) n.724C>G c.141C>G (p.Val47=) c.366C>G (p.Val122=) c.291-13C>G (n.291-13C>G) c.495C>G (p.Val165=) | |
19 | g.29702805G>T | CA506986869 | C19orf12 | c.333C>A (p.Val111=) n.724C>A c.141C>A (p.Val47=) c.366C>A (p.Val122=) c.291-13C>A (n.291-13C>A) c.495C>A (p.Val165=) | gnomAD v4 |
19 | g.29702806A= | CA2330913548 | C19orf12 | c.332T= (p.Val111=) n.723T= c.140T= (p.Val47=) c.365T= (p.Val122=) c.291-14T= (n.291-14T=) c.494T= (p.Val165=) | |
19 | g.29702806A>C | CA405142693 | C19orf12 | c.332T>G (p.Val111Gly) n.723T>G c.140T>G (p.Val47Gly) c.365T>G (p.Val122Gly) c.291-14T>G (n.291-14T>G) c.494T>G (p.Val165Gly) | |
19 | g.29702806A>G | CA405142691 | C19orf12 | c.332T>C (p.Val111Ala) n.723T>C c.140T>C (p.Val47Ala) c.365T>C (p.Val122Ala) c.291-14T>C (n.291-14T>C) c.494T>C (p.Val165Ala) | ClinVar dbSNP |
19 | g.29702806A>T | CA405142690 | C19orf12 | c.332T>A (p.Val111Asp) n.723T>A c.140T>A (p.Val47Asp) c.365T>A (p.Val122Asp) c.291-14T>A (n.291-14T>A) c.494T>A (p.Val165Asp) | dbSNP |
19 | g.29702807C>A | CA405142696 | C19orf12 | c.331G>T (p.Val111Phe) n.722G>T c.139G>T (p.Val47Phe) c.364G>T (p.Val122Phe) c.291-15G>T (n.291-15G>T) c.493G>T (p.Val165Phe) | |
19 | g.29702807C= | CA2330913549 | C19orf12 | c.331G= (p.Val111=) n.722G= c.139G= (p.Val47=) c.364G= (p.Val122=) c.291-15G= (n.291-15G=) c.493G= (p.Val165=) | |
19 | g.29702807C>G | CA405142699 | C19orf12 | c.331G>C (p.Val111Leu) n.722G>C c.139G>C (p.Val47Leu) c.364G>C (p.Val122Leu) c.291-15G>C (n.291-15G>C) c.493G>C (p.Val165Leu) | |
19 | g.29702807C>T | CA9351878 | C19orf12 | c.331G>A (p.Val111Ile) n.722G>A c.139G>A (p.Val47Ile) c.364G>A (p.Val122Ile) c.291-15G>A (n.291-15G>A) c.493G>A (p.Val165Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.29702808C>A | CA506986885 | C19orf12 | c.330G>T (p.Leu110=) n.721G>T c.138G>T (p.Leu46=) c.363G>T (p.Leu121=) c.291-16G>T (n.291-16G>T) c.492G>T (p.Leu164=) | |
19 | g.29702808C= | CA2330913550 | C19orf12 | c.330G= (p.Leu110=) n.721G= c.138G= (p.Leu46=) c.363G= (p.Leu121=) c.291-16G= (n.291-16G=) c.492G= (p.Leu164=) | |
19 | g.29702808C>G | CA506986887 | C19orf12 | c.330G>C (p.Leu110=) n.721G>C c.138G>C (p.Leu46=) c.363G>C (p.Leu121=) c.291-16G>C (n.291-16G>C) c.492G>C (p.Leu164=) | dbSNP gnomAD v4 |
19 | g.29702808C>T | CA9351879 | C19orf12 | c.330G>A (p.Leu110=) n.721G>A c.138G>A (p.Leu46=) c.363G>A (p.Leu121=) c.291-16G>A (n.291-16G>A) c.492G>A (p.Leu164=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.29702809A= | CA2330913551 | C19orf12 | c.329T= (p.Leu110=) n.720T= c.137T= (p.Leu46=) c.362T= (p.Leu121=) c.291-17T= (n.291-17T=) c.491T= (p.Leu164=) | |
19 | g.29702809A>C | CA405142705 | C19orf12 | c.329T>G (p.Leu110Arg) n.720T>G c.137T>G (p.Leu46Arg) c.362T>G (p.Leu121Arg) c.291-17T>G (n.291-17T>G) c.491T>G (p.Leu164Arg) | |
19 | g.29702809A>G | CA9351880 | C19orf12 | c.329T>C (p.Leu110Pro) n.720T>C c.137T>C (p.Leu46Pro) c.362T>C (p.Leu121Pro) c.291-17T>C (n.291-17T>C) c.491T>C (p.Leu164Pro) | dbSNP ExAC |
19 | g.29702809A>T | CA405142707 | C19orf12 | c.329T>A (p.Leu110Gln) n.720T>A c.137T>A (p.Leu46Gln) c.362T>A (p.Leu121Gln) c.291-17T>A (n.291-17T>A) c.491T>A (p.Leu164Gln) | |
19 | g.29702810G>A | CA506986900 | C19orf12 | c.328C>T (p.Leu110=) n.719C>T c.136C>T (p.Leu46=) c.361C>T (p.Leu121=) c.291-18C>T (n.291-18C>T) c.490C>T (p.Leu164=) | COSMIC COSMIC |
19 | g.29702810G>C | CA405142708 | C19orf12 | c.328C>G (p.Leu110Val) n.719C>G c.136C>G (p.Leu46Val) c.361C>G (p.Leu121Val) c.291-18C>G (n.291-18C>G) c.490C>G (p.Leu164Val) | |
19 | g.29702810G>T | CA405142710 | C19orf12 | c.328C>A (p.Leu110Met) n.719C>A c.136C>A (p.Leu46Met) c.361C>A (p.Leu121Met) c.291-18C>A (n.291-18C>A) c.490C>A (p.Leu164Met) | |
19 | g.29702811C>A | CA506986904 | C19orf12 | c.327G>T (p.Ala109=) n.718G>T c.135G>T (p.Ala45=) c.360G>T (p.Ala120=) c.291-19G>T (n.291-19G>T) c.489G>T (p.Ala163=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.29702811C= | CA2330913552 | C19orf12 | c.327G= (p.Ala109=) n.718G= c.135G= (p.Ala45=) c.360G= (p.Ala120=) c.291-19G= (n.291-19G=) c.489G= (p.Ala163=) | |
19 | g.29702811C>G | CA506986907 | C19orf12 | c.327G>C (p.Ala109=) n.718G>C c.135G>C (p.Ala45=) c.360G>C (p.Ala120=) c.291-19G>C (n.291-19G>C) c.489G>C (p.Ala163=) | |
19 | g.29702811C>T | CA9351881 | C19orf12 | c.327G>A (p.Ala109=) n.718G>A c.135G>A (p.Ala45=) c.360G>A (p.Ala120=) c.291-19G>A (n.291-19G>A) c.489G>A (p.Ala163=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.29702812G>A | CA9351882 | C19orf12 | c.326C>T (p.Ala109Val) n.717C>T c.134C>T (p.Ala45Val) c.359C>T (p.Ala120Val) c.291-20C>T (n.291-20C>T) c.488C>T (p.Ala163Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.29702812G>C | CA405142714 | C19orf12 | c.326C>G (p.Ala109Gly) n.717C>G c.134C>G (p.Ala45Gly) c.359C>G (p.Ala120Gly) c.291-20C>G (n.291-20C>G) c.488C>G (p.Ala163Gly) | |
19 | g.29702812G= | CA2330913553 | C19orf12 | c.326C= (p.Ala109=) n.717C= c.134C= (p.Ala45=) c.359C= (p.Ala120=) c.291-20C= (n.291-20C=) c.488C= (p.Ala163=) | |
19 | g.29702812G>T | CA405142716 | C19orf12 | c.326C>A (p.Ala109Glu) n.717C>A c.134C>A (p.Ala45Glu) c.359C>A (p.Ala120Glu) c.291-20C>A (n.291-20C>A) c.488C>A (p.Ala163Glu) | |
19 | g.29702813C>A | CA405142719 | C19orf12 | c.325G>T (p.Ala109Ser) n.716G>T c.133G>T (p.Ala45Ser) c.358G>T (p.Ala120Ser) c.291-21G>T (n.291-21G>T) c.487G>T (p.Ala163Ser) | |
19 | g.29702813C= | CA2330913554 | C19orf12 | c.325G= (p.Ala109=) n.716G= c.133G= (p.Ala45=) c.358G= (p.Ala120=) c.291-21G= (n.291-21G=) c.487G= (p.Ala163=) | |
19 | g.29702813C>G | CA405142721 | C19orf12 | c.325G>C (p.Ala109Pro) n.716G>C c.133G>C (p.Ala45Pro) c.358G>C (p.Ala120Pro) c.291-21G>C (n.291-21G>C) c.487G>C (p.Ala163Pro) | |
19 | g.29702813C>T | CA405142723 | C19orf12 | c.325G>A (p.Ala109Thr) n.716G>A c.133G>A (p.Ala45Thr) c.358G>A (p.Ala120Thr) c.291-21G>A (n.291-21G>A) c.487G>A (p.Ala163Thr) | dbSNP |
19 | g.29702813dup | CA2695228505 | C19orf12 | c.325dup (p.Ala109GlyfsTer?) n.716dup c.133dup (p.Ala45GlyfsTer?) c.358dup (p.Ala120GlyfsTer?) c.291-21dup (n.291-21dup) c.487dup (p.Ala163GlyfsTer?) | |
19 | g.29702814G>A | CA152059 | C19orf12 | c.324C>T (p.Thr108=) n.715C>T c.132C>T (p.Thr44=) c.357C>T (p.Thr119=) c.291-22C>T (n.291-22C>T) c.486C>T (p.Thr162=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.29702814G>C | CA506986925 | C19orf12 | c.324C>G (p.Thr108=) n.715C>G c.132C>G (p.Thr44=) c.357C>G (p.Thr119=) c.291-22C>G (n.291-22C>G) c.486C>G (p.Thr162=) | |
19 | g.29702814G= | CA2330913555 | C19orf12 | c.324C= (p.Thr108=) n.715C= c.132C= (p.Thr44=) c.357C= (p.Thr119=) c.291-22C= (n.291-22C=) c.486C= (p.Thr162=) | |
19 | g.29702814G>T | CA506986927 | C19orf12 | c.324C>A (p.Thr108=) n.715C>A c.132C>A (p.Thr44=) c.357C>A (p.Thr119=) c.291-22C>A (n.291-22C>A) c.486C>A (p.Thr162=) | dbSNP gnomAD v4 |
19 | g.29702815dup | CA2580060372 | C19orf12 | c.324dup (p.Ala109ArgfsTer?) n.715dup c.132dup (p.Ala45ArgfsTer?) c.357dup (p.Ala120ArgfsTer?) c.291-22dup (n.291-22dup) c.486dup (p.Ala163ArgfsTer?) | |
19 | g.29702815G>A | CA405142728 | C19orf12 | c.323C>T (p.Thr108Ile) n.714C>T c.131C>T (p.Thr44Ile) c.356C>T (p.Thr119Ile) c.291-23C>T (n.291-23C>T) c.485C>T (p.Thr162Ile) | gnomAD v4 |
19 | g.29702815G>C | CA405142731 | C19orf12 | c.323C>G (p.Thr108Ser) n.714C>G c.131C>G (p.Thr44Ser) c.356C>G (p.Thr119Ser) c.291-23C>G (n.291-23C>G) c.485C>G (p.Thr162Ser) | |
19 | g.29702815G>T | CA405142733 | C19orf12 | c.323C>A (p.Thr108Asn) n.714C>A c.131C>A (p.Thr44Asn) c.356C>A (p.Thr119Asn) c.291-23C>A (n.291-23C>A) c.485C>A (p.Thr162Asn) | |
19 | g.29702816T>A | CA405142736 | C19orf12 | c.322A>T (p.Thr108Ser) n.713A>T c.130A>T (p.Thr44Ser) c.355A>T (p.Thr119Ser) c.291-24A>T (n.291-24A>T) c.484A>T (p.Thr162Ser) | |
19 | g.29702816T>C | CA405142738 | C19orf12 | c.322A>G (p.Thr108Ala) n.713A>G c.130A>G (p.Thr44Ala) c.355A>G (p.Thr119Ala) c.291-24A>G (n.291-24A>G) c.484A>G (p.Thr162Ala) | |
19 | g.29702816T>G | CA9351883 | C19orf12 | c.322A>C (p.Thr108Pro) n.713A>C c.130A>C (p.Thr44Pro) c.355A>C (p.Thr119Pro) c.291-24A>C (n.291-24A>C) c.484A>C (p.Thr162Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.29702816T= | CA2330913556 | C19orf12 | c.322A= (p.Thr108=) n.713A= c.130A= (p.Thr44=) c.355A= (p.Thr119=) c.291-24A= (n.291-24A=) c.484A= (p.Thr162=) | |
19 | g.29702817C>A | CA506986941 | C19orf12 | c.321G>T (p.Leu107=) n.712G>T c.129G>T (p.Leu43=) c.354G>T (p.Leu118=) c.291-25G>T (n.291-25G>T) c.483G>T (p.Leu161=) | |
19 | g.29702817C>G | CA506986943 | C19orf12 | c.321G>C (p.Leu107=) n.712G>C c.129G>C (p.Leu43=) c.354G>C (p.Leu118=) c.291-25G>C (n.291-25G>C) c.483G>C (p.Leu161=) | |
19 | g.29702817C>T | CA506986946 | C19orf12 | c.321G>A (p.Leu107=) n.712G>A c.129G>A (p.Leu43=) c.354G>A (p.Leu118=) c.291-25G>A (n.291-25G>A) c.483G>A (p.Leu161=) | |
19 | g.29702818A= | CA2330913557 | C19orf12 | c.320T= (p.Leu107=) n.711T= c.128T= (p.Leu43=) c.353T= (p.Leu118=) c.291-26T= (n.291-26T=) c.482T= (p.Leu161=) | |
19 | g.29702818A>C | CA9351884 | C19orf12 | c.320T>G (p.Leu107Arg) n.711T>G c.128T>G (p.Leu43Arg) c.353T>G (p.Leu118Arg) c.291-26T>G (n.291-26T>G) c.482T>G (p.Leu161Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.29702818A>G | CA405142745 | C19orf12 | c.320T>C (p.Leu107Pro) n.711T>C c.128T>C (p.Leu43Pro) c.353T>C (p.Leu118Pro) c.291-26T>C (n.291-26T>C) c.482T>C (p.Leu161Pro) | gnomAD v4 |
19 | g.29702818A>T | CA405142743 | C19orf12 | c.320T>A (p.Leu107Gln) n.711T>A c.128T>A (p.Leu43Gln) c.353T>A (p.Leu118Gln) c.291-26T>A (n.291-26T>A) c.482T>A (p.Leu161Gln) | |
19 | g.29702819G>A | CA506986973 | C19orf12 | c.319C>T (p.Leu107=) n.710C>T c.127C>T (p.Leu43=) c.352C>T (p.Leu118=) c.319C>T c.291-27C>T (n.291-27C>T) c.481C>T (p.Leu161=) | |
19 | g.29702819G>C | CA405142749 | C19orf12 | c.319C>G (p.Leu107Val) n.710C>G c.127C>G (p.Leu43Val) c.352C>G (p.Leu118Val) c.319C>G c.291-27C>G (n.291-27C>G) c.481C>G (p.Leu161Val) | |
19 | g.29702819G= | CA2330913558 | C19orf12 | c.319C= (p.Leu107=) n.710C= c.127C= (p.Leu43=) c.352C= (p.Leu118=) c.319C= c.291-27C= (n.291-27C=) c.481C= (p.Leu161=) | |
19 | g.29702819G>T | CA405142751 | C19orf12 | c.319C>A (p.Leu107Met) n.710C>A c.127C>A (p.Leu43Met) c.352C>A (p.Leu118Met) c.319C>A c.291-27C>A (n.291-27C>A) c.481C>A (p.Leu161Met) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.29702820C>A | CA405142754 | C19orf12 | c.318G>T (p.Gln106His) n.709G>T c.126G>T (p.Gln42His) c.351G>T (p.Gln117His) c.291-28G>T (n.291-28G>T) c.480G>T (p.Gln160His) | |
19 | g.29702820C>G | CA405142756 | C19orf12 | c.318G>C (p.Gln106His) n.709G>C c.126G>C (p.Gln42His) c.351G>C (p.Gln117His) c.291-28G>C (n.291-28G>C) c.480G>C (p.Gln160His) | |
19 | g.29702820C>T | CA506986983 | C19orf12 | c.318G>A (p.Gln106=) n.709G>A c.126G>A (p.Gln42=) c.351G>A (p.Gln117=) c.291-28G>A (n.291-28G>A) c.480G>A (p.Gln160=) | gnomAD v4 |
19 | g.29702821T>A | CA405142759 | C19orf12 | c.317A>T (p.Gln106Leu) n.708A>T c.125A>T (p.Gln42Leu) c.350A>T (p.Gln117Leu) c.290+27A>T (n.290+27A>T) c.479A>T (p.Gln160Leu) | |
19 | g.29702821T>C | CA405142760 | C19orf12 | c.317A>G (p.Gln106Arg) n.708A>G c.125A>G (p.Gln42Arg) c.350A>G (p.Gln117Arg) c.290+27A>G (n.290+27A>G) c.479A>G (p.Gln160Arg) | dbSNP |
19 | g.29702821T>G | CA405142763 | C19orf12 | c.317A>C (p.Gln106Pro) n.708A>C c.125A>C (p.Gln42Pro) c.350A>C (p.Gln117Pro) c.290+27A>C (n.290+27A>C) c.479A>C (p.Gln160Pro) | |
19 | g.29702821T= | CA2330913559 | C19orf12 | c.317A= (p.Gln106=) n.708A= c.125A= (p.Gln42=) c.350A= (p.Gln117=) c.290+27A= (n.290+27A=) c.479A= (p.Gln160=) | |
19 | g.29702822G>A | CA405142766 | C19orf12 | c.316C>T (p.Gln106Ter) n.707C>T c.124C>T (p.Gln42Ter) c.349C>T (p.Gln117Ter) c.290+26C>T (n.290+26C>T) c.478C>T (p.Gln160Ter) | |
19 | g.29702822G>C | CA405142768 | C19orf12 | c.316C>G (p.Gln106Glu) n.707C>G c.124C>G (p.Gln42Glu) c.349C>G (p.Gln117Glu) c.290+26C>G (n.290+26C>G) c.478C>G (p.Gln160Glu) | |
19 | g.29702822G>T | CA405142770 | C19orf12 | c.316C>A (p.Gln106Lys) n.707C>A c.124C>A (p.Gln42Lys) c.349C>A (p.Gln117Lys) c.290+26C>A (n.290+26C>A) c.478C>A (p.Gln160Lys) | |
19 | g.29702823C>A | CA506986995 | C19orf12 | c.315G>T (p.Val105=) n.706G>T c.123G>T (p.Val41=) c.348G>T (p.Val116=) c.290+25G>T (n.290+25G>T) c.477G>T (p.Val159=) | |
19 | g.29702823C>G | CA506986997 | C19orf12 | c.315G>C (p.Val105=) n.706G>C c.123G>C (p.Val41=) c.348G>C (p.Val116=) c.290+25G>C (n.290+25G>C) c.477G>C (p.Val159=) | |
19 | g.29702823C>T | CA506986999 | C19orf12 | c.315G>A (p.Val105=) n.706G>A c.123G>A (p.Val41=) c.348G>A (p.Val116=) c.290+25G>A (n.290+25G>A) c.477G>A (p.Val159=) | |
19 | g.29702824A>C | CA405142773 | C19orf12 | c.314T>G (p.Val105Gly) n.705T>G c.122T>G (p.Val41Gly) c.347T>G (p.Val116Gly) c.290+24T>G (n.290+24T>G) c.476T>G (p.Val159Gly) | |
19 | g.29702824A>G | CA405142774 | C19orf12 | c.314T>C (p.Val105Ala) n.705T>C c.122T>C (p.Val41Ala) c.347T>C (p.Val116Ala) c.290+24T>C (n.290+24T>C) c.476T>C (p.Val159Ala) | |
19 | g.29702824A>T | CA405142776 | C19orf12 | c.314T>A (p.Val105Glu) n.705T>A c.122T>A (p.Val41Glu) c.347T>A (p.Val116Glu) c.290+24T>A (n.290+24T>A) c.476T>A (p.Val159Glu) | |
19 | g.29702825C>A | CA9351886 | C19orf12 | c.313G>T (p.Val105Leu) n.704G>T c.121G>T (p.Val41Leu) c.346G>T (p.Val116Leu) c.290+23G>T (n.290+23G>T) c.475G>T (p.Val159Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.29702825C= | CA2330913560 | C19orf12 | c.313G= (p.Val105=) n.704G= c.121G= (p.Val41=) c.346G= (p.Val116=) c.290+23G= (n.290+23G=) c.475G= (p.Val159=) | |
19 | g.29702825C>G | CA405142780 | C19orf12 | c.313G>C (p.Val105Leu) n.704G>C c.121G>C (p.Val41Leu) c.346G>C (p.Val116Leu) c.290+23G>C (n.290+23G>C) c.475G>C (p.Val159Leu) | |
19 | g.29702825C>T | CA9351885 | C19orf12 | c.313G>A (p.Val105Met) n.704G>A c.121G>A (p.Val41Met) c.346G>A (p.Val116Met) c.290+23G>A (n.290+23G>A) c.475G>A (p.Val159Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.29702826G>A | CA9351887 | C19orf12 | c.312C>T (p.Ala104=) n.703C>T c.120C>T (p.Ala40=) c.345C>T (p.Ala115=) c.290+22C>T (n.290+22C>T) c.474C>T (p.Ala158=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.29702826G>C | CA506987018 | C19orf12 | c.312C>G (p.Ala104=) n.703C>G c.120C>G (p.Ala40=) c.345C>G (p.Ala115=) c.290+22C>G (n.290+22C>G) c.474C>G (p.Ala158=) | |
19 | g.29702826G= | CA2330913561 | C19orf12 | c.312C= (p.Ala104=) n.703C= c.120C= (p.Ala40=) c.345C= (p.Ala115=) c.290+22C= (n.290+22C=) c.474C= (p.Ala158=) | |
19 | g.29702826G>T | CA506987015 | C19orf12 | c.312C>A (p.Ala104=) n.703C>A c.120C>A (p.Ala40=) c.345C>A (p.Ala115=) c.290+22C>A (n.290+22C>A) c.474C>A (p.Ala158=) | |
19 | g.29702827G>A | CA405142785 | C19orf12 | c.311C>T (p.Ala104Val) n.702C>T c.119C>T (p.Ala40Val) c.344C>T (p.Ala115Val) c.290+21C>T (n.290+21C>T) c.473C>T (p.Ala158Val) | |
19 | g.29702827G>C | CA405142786 | C19orf12 | c.311C>G (p.Ala104Gly) n.702C>G c.119C>G (p.Ala40Gly) c.344C>G (p.Ala115Gly) c.290+21C>G (n.290+21C>G) c.473C>G (p.Ala158Gly) | |
19 | g.29702827G>T | CA405142788 | C19orf12 | c.311C>A (p.Ala104Asp) n.702C>A c.119C>A (p.Ala40Asp) c.344C>A (p.Ala115Asp) c.290+21C>A (n.290+21C>A) c.473C>A (p.Ala158Asp) | |
19 | g.29702828C>A | CA405142791 | C19orf12 | c.310G>T (p.Ala104Ser) n.701G>T c.118G>T (p.Ala40Ser) c.343G>T (p.Ala115Ser) c.290+20G>T (n.290+20G>T) c.472G>T (p.Ala158Ser) | |
19 | g.29702828C= | CA2330913562 | C19orf12 | c.310G= (p.Ala104=) n.701G= c.118G= (p.Ala40=) c.343G= (p.Ala115=) c.290+20G= (n.290+20G=) c.472G= (p.Ala158=) | |
19 | g.29702828C>G | CA405142793 | C19orf12 | c.310G>C (p.Ala104Pro) n.701G>C c.118G>C (p.Ala40Pro) c.343G>C (p.Ala115Pro) c.290+20G>C (n.290+20G>C) c.472G>C (p.Ala158Pro) | |
19 | g.29702828C>T | CA405142795 | C19orf12 | c.310G>A (p.Ala104Thr) n.701G>A c.118G>A (p.Ala40Thr) c.343G>A (p.Ala115Thr) c.290+20G>A (n.290+20G>A) c.472G>A (p.Ala158Thr) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.29702829G>A | CA9351888 | C19orf12 | c.309C>T (p.Asp103=) n.700C>T c.117C>T (p.Asp39=) c.342C>T (p.Asp114=) c.290+19C>T (n.290+19C>T) c.471C>T (p.Asp157=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.29702829G>C | CA405142799 | C19orf12 | c.309C>G (p.Asp103Glu) n.700C>G c.117C>G (p.Asp39Glu) c.342C>G (p.Asp114Glu) c.290+19C>G (n.290+19C>G) c.471C>G (p.Asp157Glu) | |
19 | g.29702829G= | CA2330913563 | C19orf12 | c.309C= (p.Asp103=) n.700C= c.117C= (p.Asp39=) c.342C= (p.Asp114=) c.290+19C= (n.290+19C=) c.471C= (p.Asp157=) | |
19 | g.29702829G>T | CA405142801 | C19orf12 | c.309C>A (p.Asp103Glu) n.700C>A c.117C>A (p.Asp39Glu) c.342C>A (p.Asp114Glu) c.290+19C>A (n.290+19C>A) c.471C>A (p.Asp157Glu) | |
19 | g.29702830T>A | CA405142805 | C19orf12 | c.308A>T (p.Asp103Val) n.699A>T c.116A>T (p.Asp39Val) c.341A>T (p.Asp114Val) c.290+18A>T (n.290+18A>T) c.470A>T (p.Asp157Val) | |
19 | g.29702830T>C | CA405142807 | C19orf12 | c.308A>G (p.Asp103Gly) n.699A>G c.116A>G (p.Asp39Gly) c.341A>G (p.Asp114Gly) c.290+18A>G (n.290+18A>G) c.470A>G (p.Asp157Gly) | |
19 | g.29702830T>G | CA405142809 | C19orf12 | c.308A>C (p.Asp103Ala) n.699A>C c.116A>C (p.Asp39Ala) c.341A>C (p.Asp114Ala) c.290+18A>C (n.290+18A>C) c.470A>C (p.Asp157Ala) | |
19 | g.29702831C>A | CA405142815 | C19orf12 | c.307G>T (p.Asp103Tyr) n.698G>T c.115G>T (p.Asp39Tyr) c.340G>T (p.Asp114Tyr) c.290+17G>T (n.290+17G>T) c.469G>T (p.Asp157Tyr) | |
19 | g.29702831C>G | CA405142818 | C19orf12 | c.307G>C (p.Asp103His) n.698G>C c.115G>C (p.Asp39His) c.340G>C (p.Asp114His) c.290+17G>C (n.290+17G>C) c.469G>C (p.Asp157His) | |
19 | g.29702831C>T | CA405142812 | C19orf12 | c.307G>A (p.Asp103Asn) n.698G>A c.115G>A (p.Asp39Asn) c.340G>A (p.Asp114Asn) c.290+17G>A (n.290+17G>A) c.469G>A (p.Asp157Asn) | |
19 | g.29702832C>A | CA506987051 | C19orf12 | c.306G>T (p.Thr102=) n.697G>T c.114G>T (p.Thr38=) c.339G>T (p.Thr113=) c.290+16G>T (n.290+16G>T) c.468G>T (p.Thr156=) | |
19 | g.29702832C= | CA2330913564 | C19orf12 | c.306G= (p.Thr102=) n.697G= c.114G= (p.Thr38=) c.339G= (p.Thr113=) c.290+16G= (n.290+16G=) c.468G= (p.Thr156=) | |
19 | g.29702832C>G | CA9351890 | C19orf12 | c.306G>C (p.Thr102=) n.697G>C c.114G>C (p.Thr38=) c.339G>C (p.Thr113=) c.290+16G>C (n.290+16G>C) c.468G>C (p.Thr156=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.29702832C>T | CA9351889 | C19orf12 | c.306G>A (p.Thr102=) n.697G>A c.114G>A (p.Thr38=) c.339G>A (p.Thr113=) c.290+16G>A (n.290+16G>A) c.468G>A (p.Thr156=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.29702833G>A | CA9351891 | C19orf12 | c.305C>T (p.Thr102Met) n.696C>T c.113C>T (p.Thr38Met) c.338C>T (p.Thr113Met) c.290+15C>T (n.290+15C>T) c.467C>T (p.Thr156Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.29702833G>C | CA405142823 | C19orf12 | c.305C>G (p.Thr102Arg) n.696C>G c.113C>G (p.Thr38Arg) c.338C>G (p.Thr113Arg) c.290+15C>G (n.290+15C>G) c.467C>G (p.Thr156Arg) | |
19 | g.29702833G= | CA2330913565 | C19orf12 | c.305C= (p.Thr102=) n.696C= c.113C= (p.Thr38=) c.338C= (p.Thr113=) c.290+15C= (n.290+15C=) c.467C= (p.Thr156=) | |
19 | g.29702833G>T | CA405142825 | C19orf12 | c.305C>A (p.Thr102Lys) n.696C>A c.113C>A (p.Thr38Lys) c.338C>A (p.Thr113Lys) c.290+15C>A (n.290+15C>A) c.467C>A (p.Thr156Lys) | |
19 | g.29702833_29702835delinsTGTG | CA2580060375 | C19orf12 | c.303_305delinsCACA (p.Trp101CysfsTer?) n.694_696delinsCACA c.111_113delinsCACA (p.Trp37CysfsTer?) c.336_338delinsCACA (p.Trp112CysfsTer?) c.290+13_290+15delinsCACA (n.290+13_290+15delinsCACA) c.465_467delinsCACA (p.Trp155CysfsTer?) | |
19 | g.29702834T>A | CA405142832 | C19orf12 | c.304A>T (p.Thr102Ser) n.695A>T c.112A>T (p.Thr38Ser) c.337A>T (p.Thr113Ser) c.290+14A>T (n.290+14A>T) c.466A>T (p.Thr156Ser) | ClinVar gnomAD v4 |
19 | g.29702834T>C | CA405142827 | C19orf12 | c.304A>G (p.Thr102Ala) n.695A>G c.112A>G (p.Thr38Ala) c.337A>G (p.Thr113Ala) c.290+14A>G (n.290+14A>G) c.466A>G (p.Thr156Ala) | |
19 | g.29702834T>G | CA405142829 | C19orf12 | c.304A>C (p.Thr102Pro) n.695A>C c.112A>C (p.Thr38Pro) c.337A>C (p.Thr113Pro) c.290+14A>C (n.290+14A>C) c.466A>C (p.Thr156Pro) | |
19 | g.29702835C>A | CA405142834 | C19orf12 | c.303G>T (p.Trp101Cys) n.694G>T c.111G>T (p.Trp37Cys) c.336G>T (p.Trp112Cys) c.290+13G>T (n.290+13G>T) c.465G>T (p.Trp155Cys) | |
19 | g.29702835C= | CA2330913566 | C19orf12 | c.303G= (p.Trp101=) n.694G= c.111G= (p.Trp37=) c.336G= (p.Trp112=) c.290+13G= (n.290+13G=) c.465G= (p.Trp155=) | |
19 | g.29702835C>G | CA405142836 | C19orf12 | c.303G>C (p.Trp101Cys) n.694G>C c.111G>C (p.Trp37Cys) c.336G>C (p.Trp112Cys) c.290+13G>C (n.290+13G>C) c.465G>C (p.Trp155Cys) | |
19 | g.29702835C>T | CA405142838 | C19orf12 | c.303G>A (p.Trp101Ter) n.694G>A c.111G>A (p.Trp37Ter) c.336G>A (p.Trp112Ter) c.290+13G>A (n.290+13G>A) c.465G>A (p.Trp155Ter) | ClinVar dbSNP |
19 | g.29702836C>A | CA405142841 | C19orf12 | c.302G>T (p.Trp101Leu) n.693G>T c.110G>T (p.Trp37Leu) c.335G>T (p.Trp112Leu) c.290+12G>T (n.290+12G>T) c.464G>T (p.Trp155Leu) | |
19 | g.29702836C>G | CA405142842 | C19orf12 | c.302G>C (p.Trp101Ser) n.693G>C c.110G>C (p.Trp37Ser) c.335G>C (p.Trp112Ser) c.290+12G>C (n.290+12G>C) c.464G>C (p.Trp155Ser) | |
19 | g.29702836C>T | CA405142844 | C19orf12 | c.302G>A (p.Trp101Ter) n.693G>A c.110G>A (p.Trp37Ter) c.335G>A (p.Trp112Ter) c.290+12G>A (n.290+12G>A) c.464G>A (p.Trp155Ter) | |
19 | g.29702837A>C | CA405142848 | C19orf12 | c.301T>G (p.Trp101Gly) n.692T>G c.109T>G (p.Trp37Gly) c.334T>G (p.Trp112Gly) c.290+11T>G (n.290+11T>G) c.463T>G (p.Trp155Gly) | |
19 | g.29702837A>G | CA405142850 | C19orf12 | c.301T>C (p.Trp101Arg) n.692T>C c.109T>C (p.Trp37Arg) c.334T>C (p.Trp112Arg) c.290+11T>C (n.290+11T>C) c.463T>C (p.Trp155Arg) | |
19 | g.29702837A>T | CA405142847 | C19orf12 | c.301T>A (p.Trp101Arg) n.692T>A c.109T>A (p.Trp37Arg) c.334T>A (p.Trp112Arg) c.290+11T>A (n.290+11T>A) c.463T>A (p.Trp155Arg) | |
19 | g.29702838C>A | CA405142853 | C19orf12 | c.300G>T (p.Glu100Asp) n.691G>T c.108G>T (p.Glu36Asp) c.333G>T (p.Glu111Asp) c.290+10G>T (n.290+10G>T) c.462G>T (p.Glu154Asp) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.29702838C= | CA2330913567 | C19orf12 | c.300G= (p.Glu100=) n.691G= c.108G= (p.Glu36=) c.333G= (p.Glu111=) c.290+10G= (n.290+10G=) c.462G= (p.Glu154=) | |
19 | g.29702838C>G | CA405142855 | C19orf12 | c.300G>C (p.Glu100Asp) n.691G>C c.108G>C (p.Glu36Asp) c.333G>C (p.Glu111Asp) c.290+10G>C (n.290+10G>C) c.462G>C (p.Glu154Asp) | dbSNP |
19 | g.29702838C>T | CA506987668 | C19orf12 | c.300G>A (p.Glu100=) n.691G>A c.108G>A (p.Glu36=) c.333G>A (p.Glu111=) c.290+10G>A (n.290+10G>A) c.462G>A (p.Glu154=) | dbSNP |
19 | g.29702839T>A | CA405142858 | C19orf12 | c.299A>T (p.Glu100Val) n.690A>T c.107A>T (p.Glu36Val) c.332A>T (p.Glu111Val) c.290+9A>T (n.290+9A>T) c.461A>T (p.Glu154Val) | |
19 | g.29702839T>C | CA405142860 | C19orf12 | c.299A>G (p.Glu100Gly) n.690A>G c.107A>G (p.Glu36Gly) c.332A>G (p.Glu111Gly) c.290+9A>G (n.290+9A>G) c.461A>G (p.Glu154Gly) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.29702839T>G | CA405142861 | C19orf12 | c.299A>C (p.Glu100Ala) n.690A>C c.107A>C (p.Glu36Ala) c.332A>C (p.Glu111Ala) c.290+9A>C (n.290+9A>C) c.461A>C (p.Glu154Ala) | |
19 | g.29702839T= | CA2330913568 | C19orf12 | c.299A= (p.Glu100=) n.690A= c.107A= (p.Glu36=) c.332A= (p.Glu111=) c.290+9A= (n.290+9A=) c.461A= (p.Glu154=) | |
19 | g.29702840C>A | CA405142863 | C19orf12 | c.298G>T (p.Glu100Ter) n.689G>T c.106G>T (p.Glu36Ter) c.331G>T (p.Glu111Ter) c.290+8G>T (n.290+8G>T) c.460G>T (p.Glu154Ter) | |
19 | g.29702840C= | CA2330913569 | C19orf12 | c.298G= (p.Glu100=) n.689G= c.106G= (p.Glu36=) c.331G= (p.Glu111=) c.290+8G= (n.290+8G=) c.460G= (p.Glu154=) | |
19 | g.29702840C>G | CA405142865 | C19orf12 | c.298G>C (p.Glu100Gln) n.689G>C c.106G>C (p.Glu36Gln) c.331G>C (p.Glu111Gln) c.290+8G>C (n.290+8G>C) c.460G>C (p.Glu154Gln) | |
19 | g.29702840C>T | CA306785293 | C19orf12 | c.298G>A (p.Glu100Lys) n.689G>A c.106G>A (p.Glu36Lys) c.331G>A (p.Glu111Lys) c.290+8G>A (n.290+8G>A) c.460G>A (p.Glu154Lys) | dbSNP gnomAD v4 |
19 | g.29702841C>A | CA506987681 | C19orf12 | c.297G>T (p.Leu99=) n.688G>T c.105G>T (p.Leu35=) c.330G>T (p.Leu110=) c.290+7G>T (n.290+7G>T) c.459G>T (p.Leu153=) | |
19 | g.29702841C>G | CA506987683 | C19orf12 | c.297G>C (p.Leu99=) n.688G>C c.105G>C (p.Leu35=) c.330G>C (p.Leu110=) c.290+7G>C (n.290+7G>C) c.459G>C (p.Leu153=) | |
19 | g.29702841C>T | CA506987685 | C19orf12 | c.297G>A (p.Leu99=) n.688G>A c.105G>A (p.Leu35=) c.330G>A (p.Leu110=) c.290+7G>A (n.290+7G>A) c.459G>A (p.Leu153=) | |
19 | g.29702842A= | CA2330913570 | C19orf12 | c.296T= (p.Leu99=) c.*210T= (n.*210T=) n.687T= c.104T= (p.Leu35=) c.329T= (p.Leu110=) c.290+6T= (n.290+6T=) c.458T= (p.Leu153=) | |
19 | g.29702842A>C | CA405142870 | C19orf12 | c.296T>G (p.Leu99Arg) c.*210T>G (n.*210T>G) n.687T>G c.104T>G (p.Leu35Arg) c.329T>G (p.Leu110Arg) c.290+6T>G (n.290+6T>G) c.458T>G (p.Leu153Arg) | |
19 | g.29702842A>G | CA405142874 | C19orf12 | c.296T>C (p.Leu99Pro) c.*210T>C (n.*210T>C) n.687T>C c.104T>C (p.Leu35Pro) c.329T>C (p.Leu110Pro) c.290+6T>C (n.290+6T>C) c.458T>C (p.Leu153Pro) | |
19 | g.29702842A>T | CA405142871 | C19orf12 | c.296T>A (p.Leu99Gln) c.*210T>A (n.*210T>A) n.687T>A c.104T>A (p.Leu35Gln) c.329T>A (p.Leu110Gln) c.290+6T>A (n.290+6T>A) c.458T>A (p.Leu153Gln) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.29702843G>A | CA506987695 | C19orf12 | c.295C>T (p.Leu99=) c.*209C>T (n.*209C>T) n.686C>T c.103C>T (p.Leu35=) c.328C>T (p.Leu110=) c.290+5C>T (n.290+5C>T) c.457C>T (p.Leu153=) | |
19 | g.29702843G>C | CA405142876 | C19orf12 | c.295C>G (p.Leu99Val) c.*209C>G (n.*209C>G) n.686C>G c.103C>G (p.Leu35Val) c.328C>G (p.Leu110Val) c.290+5C>G (n.290+5C>G) c.457C>G (p.Leu153Val) | |
19 | g.29702843G>T | CA405142878 | C19orf12 | c.295C>A (p.Leu99Met) c.*209C>A (n.*209C>A) n.686C>A c.103C>A (p.Leu35Met) c.328C>A (p.Leu110Met) c.290+5C>A (n.290+5C>A) c.457C>A (p.Leu153Met) | |
19 | g.29702844G>A | CA506987702 | C19orf12 | c.294C>T (p.His98=) c.*208C>T (n.*208C>T) n.685C>T c.102C>T (p.His34=) c.327C>T (p.His109=) c.290+4C>T (n.290+4C>T) c.456C>T (p.His152=) | gnomAD v4 |
19 | g.29702844G>C | CA405142879 | C19orf12 | c.294C>G (p.His98Gln) c.*208C>G (n.*208C>G) n.685C>G c.102C>G (p.His34Gln) c.327C>G (p.His109Gln) c.290+4C>G (n.290+4C>G) c.456C>G (p.His152Gln) | ClinVar dbSNP |
19 | g.29702844G>T | CA405142881 | C19orf12 | c.294C>A (p.His98Gln) c.*208C>A (n.*208C>A) n.685C>A c.102C>A (p.His34Gln) c.327C>A (p.His109Gln) c.290+4C>A (n.290+4C>A) c.456C>A (p.His152Gln) | gnomAD v4 |
19 | g.29702845T>A | CA405142884 | C19orf12 | c.293A>T (p.His98Leu) c.*207A>T (n.*207A>T) n.684A>T c.101A>T (p.His34Leu) c.326A>T (p.His109Leu) c.290+3A>T (n.290+3A>T) c.455A>T (p.His152Leu) | |
19 | g.29702845T>C | CA405142888 | C19orf12 | c.293A>G (p.His98Arg) c.*207A>G (n.*207A>G) n.684A>G c.101A>G (p.His34Arg) c.326A>G (p.His109Arg) c.290+3A>G (n.290+3A>G) c.455A>G (p.His152Arg) | |
19 | g.29702845T>G | CA405142885 | C19orf12 | c.293A>C (p.His98Pro) c.*207A>C (n.*207A>C) n.684A>C c.101A>C (p.His34Pro) c.326A>C (p.His109Pro) c.290+3A>C (n.290+3A>C) c.455A>C (p.His152Pro) | |
19 | g.29702846G>A | CA405142890 | C19orf12 | c.292C>T (p.His98Tyr) c.*206C>T (n.*206C>T) n.683C>T c.100C>T (p.His34Tyr) c.325C>T (p.His109Tyr) c.290+2C>T (n.290+2C>T) c.454C>T (p.His152Tyr) | |
19 | g.29702846G>C | CA405142892 | C19orf12 | c.292C>G (p.His98Asp) c.*206C>G (n.*206C>G) n.683C>G c.100C>G (p.His34Asp) c.325C>G (p.His109Asp) c.290+2C>G (n.290+2C>G) c.454C>G (p.His152Asp) | |
19 | g.29702846G= | CA2330913571 | C19orf12 | c.292C= (p.His98=) c.*206C= (n.*206C=) n.683C= c.100C= (p.His34=) c.325C= (p.His109=) c.290+2C= (n.290+2C=) c.454C= (p.His152=) | |
19 | g.29702846G>T | CA405142895 | C19orf12 | c.292C>A (p.His98Asn) c.*206C>A (n.*206C>A) n.683C>A c.100C>A (p.His34Asn) c.325C>A (p.His109Asn) c.290+2C>A (n.290+2C>A) c.454C>A (p.His152Asn) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.29702847C>A | CA405142901 | C19orf12 | c.291G>T (p.Arg97Ser) c.*205G>T (n.*205G>T) n.682G>T c.99G>T (p.Arg33Ser) c.324G>T (p.Arg108Ser) c.290+1G>T (n.290+1G>T) c.453G>T (p.Arg151Ser) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.29702847C= | CA2330913572 | C19orf12 | c.291G= (p.Arg97=) c.*205G= (n.*205G=) n.682G= c.99G= (p.Arg33=) c.324G= (p.Arg108=) c.290+1G= (n.290+1G=) c.453G= (p.Arg151=) | |
19 | g.29702847C>G | CA405142903 | C19orf12 | c.291G>C (p.Arg97Ser) c.*205G>C (n.*205G>C) n.682G>C c.99G>C (p.Arg33Ser) c.324G>C (p.Arg108Ser) c.290+1G>C (n.290+1G>C) c.453G>C (p.Arg151Ser) | |
19 | g.29702847C>T | CA405142904 | C19orf12 | c.291G>A (p.Arg97=) c.*205G>A (n.*205G>A) n.682G>A c.99G>A (p.Arg33=) c.324G>A (p.Arg108=) c.290+1G>A (n.290+1G>A) c.453G>A (p.Arg151=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.29702848C>A | CA405142907 | C19orf12 | c.290G>T (p.Arg97Met) c.*204G>T (n.*204G>T) n.681G>T c.98G>T (p.Arg33Met) c.323G>T (p.Arg108Met) c.452G>T (p.Arg151Met) | |
19 | g.29702848C= | CA2330913573 | C19orf12 | c.290G= (p.Arg97=) c.*204G= (n.*204G=) n.681G= c.98G= (p.Arg33=) c.323G= (p.Arg108=) c.452G= (p.Arg151=) | |
19 | g.29702848C>G | CA405142908 | C19orf12 | c.290G>C (p.Arg97Thr) c.*204G>C (n.*204G>C) n.681G>C c.98G>C (p.Arg33Thr) c.323G>C (p.Arg108Thr) c.452G>C (p.Arg151Thr) | |
19 | g.29702848C>T | CA9351892 | C19orf12 | c.290G>A (p.Arg97Lys) c.*204G>A (n.*204G>A) n.681G>A c.98G>A (p.Arg33Lys) c.323G>A (p.Arg108Lys) c.452G>A (p.Arg151Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.29702849T>A | CA405142911 | C19orf12 | c.289A>T (p.Arg97Trp) c.*203A>T (n.*203A>T) n.680A>T c.97A>T (p.Arg33Trp) c.322A>T (p.Arg108Trp) c.451A>T (p.Arg151Trp) | |
19 | g.29702849T>C | CA306785304 | C19orf12 | c.289A>G (p.Arg97Gly) c.*203A>G (n.*203A>G) n.680A>G c.97A>G (p.Arg33Gly) c.322A>G (p.Arg108Gly) c.451A>G (p.Arg151Gly) | dbSNP |
19 | g.29702849T>G | CA506987733 | C19orf12 | c.289A>C (p.Arg97=) c.*203A>C (n.*203A>C) n.680A>C c.97A>C (p.Arg33=) c.322A>C (p.Arg108=) c.451A>C (p.Arg151=) | |
19 | g.29702849T= | CA2330913574 | C19orf12 | c.289A= (p.Arg97=) c.*203A= (n.*203A=) n.680A= c.97A= (p.Arg33=) c.322A= (p.Arg108=) c.451A= (p.Arg151=) | |
19 | g.29702850G>A | CA506987736 | C19orf12 | c.288C>T (p.Ile96=) c.*202C>T (n.*202C>T) n.679C>T c.96C>T (p.Ile32=) c.321C>T (p.Ile107=) c.450C>T (p.Ile150=) | |
19 | g.29702850G>C | CA405142914 | C19orf12 | c.288C>G (p.Ile96Met) c.*202C>G (n.*202C>G) n.679C>G c.96C>G (p.Ile32Met) c.321C>G (p.Ile107Met) c.450C>G (p.Ile150Met) | |
19 | g.29702850G>T | CA506987741 | C19orf12 | c.288C>A (p.Ile96=) c.*202C>A (n.*202C>A) n.679C>A c.96C>A (p.Ile32=) c.321C>A (p.Ile107=) c.450C>A (p.Ile150=) | |
19 | g.29702851A>C | CA405142915 | C19orf12 | c.287T>G (p.Ile96Ser) c.*201T>G (n.*201T>G) n.678T>G c.95T>G (p.Ile32Ser) c.320T>G (p.Ile107Ser) c.449T>G (p.Ile150Ser) | gnomAD v4 |
19 | g.29702851A>G | CA405142919 | C19orf12 | c.287T>C (p.Ile96Thr) c.*201T>C (n.*201T>C) n.678T>C c.95T>C (p.Ile32Thr) c.320T>C (p.Ile107Thr) c.449T>C (p.Ile150Thr) | |
19 | g.29702851A>T | CA405142917 | C19orf12 | c.287T>A (p.Ile96Asn) c.*201T>A (n.*201T>A) n.678T>A c.95T>A (p.Ile32Asn) c.320T>A (p.Ile107Asn) c.449T>A (p.Ile150Asn) | |
19 | g.29702852T>A | CA405142921 | C19orf12 | c.286A>T (p.Ile96Phe) c.*200A>T (n.*200A>T) n.677A>T c.94A>T (p.Ile32Phe) c.319A>T (p.Ile107Phe) c.448A>T (p.Ile150Phe) | gnomAD v4 |
19 | g.29702852T>C | CA405142923 | C19orf12 | c.286A>G (p.Ile96Val) c.*200A>G (n.*200A>G) n.677A>G c.94A>G (p.Ile32Val) c.319A>G (p.Ile107Val) c.448A>G (p.Ile150Val) | ClinVar gnomAD v4 |
19 | g.29702852T>G | CA405142925 | C19orf12 | c.286A>C (p.Ile96Leu) c.*200A>C (n.*200A>C) n.677A>C c.94A>C (p.Ile32Leu) c.319A>C (p.Ile107Leu) c.448A>C (p.Ile150Leu) | dbSNP |
19 | g.29702852T= | CA2330913575 | C19orf12 | c.286A= (p.Ile96=) c.*200A= (n.*200A=) n.677A= c.94A= (p.Ile32=) c.319A= (p.Ile107=) c.448A= (p.Ile150=) | |
19 | g.29702853G>A | CA506987755 | C19orf12 | c.285C>T (p.Ile95=) c.*199C>T (n.*199C>T) n.676C>T c.93C>T (p.Ile31=) c.318C>T (p.Ile106=) c.447C>T (p.Ile149=) | |
19 | g.29702853G>C | CA9351893 | C19orf12 | c.285C>G (p.Ile95Met) c.*199C>G (n.*199C>G) n.676C>G c.93C>G (p.Ile31Met) c.318C>G (p.Ile106Met) c.447C>G (p.Ile149Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.29702853G= | CA2330913576 | C19orf12 | c.285C= (p.Ile95=) c.*199C= (n.*199C=) n.676C= c.93C= (p.Ile31=) c.318C= (p.Ile106=) c.447C= (p.Ile149=) | |
19 | g.29702853G>T | CA506987759 | C19orf12 | c.285C>A (p.Ile95=) c.*199C>A (n.*199C>A) n.676C>A c.93C>A (p.Ile31=) c.318C>A (p.Ile106=) c.447C>A (p.Ile149=) | |
19 | g.29702854A>C | CA405142929 | C19orf12 | c.284T>G (p.Ile95Ser) c.*198T>G (n.*198T>G) n.675T>G c.92T>G (p.Ile31Ser) c.317T>G (p.Ile106Ser) c.446T>G (p.Ile149Ser) | |
19 | g.29702854A>G | CA405142931 | C19orf12 | c.284T>C (p.Ile95Thr) c.*198T>C (n.*198T>C) n.675T>C c.92T>C (p.Ile31Thr) c.317T>C (p.Ile106Thr) c.446T>C (p.Ile149Thr) | |
19 | g.29702854A>T | CA405142933 | C19orf12 | c.284T>A (p.Ile95Asn) c.*198T>A (n.*198T>A) n.675T>A c.92T>A (p.Ile31Asn) c.317T>A (p.Ile106Asn) c.446T>A (p.Ile149Asn) | |
19 | g.29702855T>A | CA405142936 | C19orf12 | c.283A>T (p.Ile95Phe) c.*197A>T (n.*197A>T) n.674A>T c.91A>T (p.Ile31Phe) c.316A>T (p.Ile106Phe) c.445A>T (p.Ile149Phe) | |
19 | g.29702855T>C | CA405142938 | C19orf12 | c.283A>G (p.Ile95Val) c.*197A>G (n.*197A>G) n.674A>G c.91A>G (p.Ile31Val) c.316A>G (p.Ile106Val) c.445A>G (p.Ile149Val) | gnomAD v4 |
19 | g.29702855T>G | CA405142939 | C19orf12 | c.283A>C (p.Ile95Leu) c.*197A>C (n.*197A>C) n.674A>C c.91A>C (p.Ile31Leu) c.316A>C (p.Ile106Leu) c.445A>C (p.Ile149Leu) | |
19 | g.29702855T= | CA2330913577 | C19orf12 | c.283A= (p.Ile95=) c.*197A= (n.*197A=) n.674A= c.91A= (p.Ile31=) c.316A= (p.Ile106=) c.445A= (p.Ile149=) | |
19 | g.29702856G>A | CA506987770 | C19orf12 | c.282C>T (p.Ala94=) c.*196C>T (n.*196C>T) n.673C>T c.90C>T (p.Ala30=) c.315C>T (p.Ala105=) c.444C>T (p.Ala148=) | gnomAD v4 COSMIC COSMIC |
19 | g.29702856G>C | CA506987773 | C19orf12 | c.282C>G (p.Ala94=) c.*196C>G (n.*196C>G) n.673C>G c.90C>G (p.Ala30=) c.315C>G (p.Ala105=) c.444C>G (p.Ala148=) | |
19 | g.29702856G>T | CA506987776 | C19orf12 | c.282C>A (p.Ala94=) c.*196C>A (n.*196C>A) n.673C>A c.90C>A (p.Ala30=) c.315C>A (p.Ala105=) c.444C>A (p.Ala148=) | |
19 | g.29702857dup | CA658658799 | C19orf12 | c.282dup (p.Ile95HisfsTer?) c.*196dup (n.*196dup) n.673dup c.90dup (p.Ile31HisfsTer?) c.315dup (p.Ile106HisfsTer?) c.282dup (p.Ile95HisfsTer30) c.444dup (p.Ile149HisfsTer?) | ClinVar dbSNP |
19 | g.29702857G>A | CA306785310 | C19orf12 | c.281C>T (p.Ala94Val) c.*195C>T (n.*195C>T) n.672C>T c.89C>T (p.Ala30Val) c.314C>T (p.Ala105Val) c.443C>T (p.Ala148Val) | dbSNP COSMIC COSMIC |
19 | g.29702857G>C | CA405142949 | C19orf12 | c.281C>G (p.Ala94Gly) c.*195C>G (n.*195C>G) n.672C>G c.89C>G (p.Ala30Gly) c.314C>G (p.Ala105Gly) c.443C>G (p.Ala148Gly) | |
19 | g.29702857G= | CA2330913578 | C19orf12 | c.281C= (p.Ala94=) c.*195C= (n.*195C=) n.672C= c.89C= (p.Ala30=) c.314C= (p.Ala105=) c.443C= (p.Ala148=) | |
19 | g.29702857G>T | CA405142951 | C19orf12 | c.281C>A (p.Ala94Asp) c.*195C>A (n.*195C>A) n.672C>A c.89C>A (p.Ala30Asp) c.314C>A (p.Ala105Asp) c.443C>A (p.Ala148Asp) | |
19 | g.29702858C>A | CA405142958 | C19orf12 | c.280G>T (p.Ala94Ser) c.*194G>T (n.*194G>T) n.671G>T c.88G>T (p.Ala30Ser) c.313G>T (p.Ala105Ser) c.442G>T (p.Ala148Ser) | |
19 | g.29702858C>G | CA405142954 | C19orf12 | c.280G>C (p.Ala94Pro) c.*194G>C (n.*194G>C) n.671G>C c.88G>C (p.Ala30Pro) c.313G>C (p.Ala105Pro) c.442G>C (p.Ala148Pro) | |
19 | g.29702858C>T | CA405142956 | C19orf12 | c.280G>A (p.Ala94Thr) c.*194G>A (n.*194G>A) n.671G>A c.88G>A (p.Ala30Thr) c.313G>A (p.Ala105Thr) c.442G>A (p.Ala148Thr) | |
19 | g.29702859del | CA2573156223 | C19orf12 | c.279del (p.Ala94ProfsTer14) c.*193del (n.*193del) n.670del c.87del (p.Ala30ProfsTer14) c.312del (p.Ala105ProfsTer14) c.279del (p.Ala94ProfsTer?) c.279del (p.Ala94ProfsTer28) c.441del (p.Ala148ProfsTer14) | ClinVar dbSNP |
19 | g.29702859T>A | CA506987788 | C19orf12 | c.279A>T (p.Ala93=) c.*193A>T (n.*193A>T) n.670A>T c.87A>T (p.Ala29=) c.312A>T (p.Ala104=) c.441A>T (p.Ala147=) | |
19 | g.29702859T>C | CA506987790 | C19orf12 | c.279A>G (p.Ala93=) c.*193A>G (n.*193A>G) n.670A>G c.87A>G (p.Ala29=) c.312A>G (p.Ala104=) c.441A>G (p.Ala147=) | gnomAD v4 |
19 | g.29702859T>G | CA506987792 | C19orf12 | c.279A>C (p.Ala93=) c.*193A>C (n.*193A>C) n.670A>C c.87A>C (p.Ala29=) c.312A>C (p.Ala104=) c.441A>C (p.Ala147=) | gnomAD v4 |
19 | g.29702860G>A | CA405142960 | C19orf12 | c.278C>T (p.Ala93Val) c.*192C>T (n.*192C>T) n.669C>T c.86C>T (p.Ala29Val) c.311C>T (p.Ala104Val) c.440C>T (p.Ala147Val) | |
19 | g.29702860G>C | CA405142962 | C19orf12 | c.278C>G (p.Ala93Gly) c.*192C>G (n.*192C>G) n.669C>G c.86C>G (p.Ala29Gly) c.311C>G (p.Ala104Gly) c.440C>G (p.Ala147Gly) | |
19 | g.29702860G>T | CA405142963 | C19orf12 | c.278C>A (p.Ala93Glu) c.*192C>A (n.*192C>A) n.669C>A c.86C>A (p.Ala29Glu) c.311C>A (p.Ala104Glu) c.440C>A (p.Ala147Glu) | |
19 | g.29702861C>A | CA405142967 | C19orf12 | c.277G>T (p.Ala93Ser) c.*191G>T (n.*191G>T) n.668G>T c.85G>T (p.Ala29Ser) c.310G>T (p.Ala104Ser) c.439G>T (p.Ala147Ser) | ClinVar |
19 | g.29702861C= | CA2330913579 | C19orf12 | c.277G= (p.Ala93=) c.*191G= (n.*191G=) n.668G= c.85G= (p.Ala29=) c.310G= (p.Ala104=) c.439G= (p.Ala147=) | |
19 | g.29702861C>G | CA405142972 | C19orf12 | c.277G>C (p.Ala93Pro) c.*191G>C (n.*191G>C) n.668G>C c.85G>C (p.Ala29Pro) c.310G>C (p.Ala104Pro) c.439G>C (p.Ala147Pro) | |
19 | g.29702861C>T | CA306785312 | C19orf12 | c.277G>A (p.Ala93Thr) c.*191G>A (n.*191G>A) n.668G>A c.85G>A (p.Ala29Thr) c.310G>A (p.Ala104Thr) c.439G>A (p.Ala147Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.29702862G>A | CA9351894 | C19orf12 | c.276C>T (p.Ala92=) c.*190C>T (n.*190C>T) n.667C>T c.84C>T (p.Ala28=) c.309C>T (p.Ala103=) c.438C>T (p.Ala146=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.29702862G>C | CA506987816 | C19orf12 | c.276C>G (p.Ala92=) c.*190C>G (n.*190C>G) n.667C>G c.84C>G (p.Ala28=) c.309C>G (p.Ala103=) c.438C>G (p.Ala146=) | |
19 | g.29702862G= | CA2330913580 | C19orf12 | c.276C= (p.Ala92=) c.*190C= (n.*190C=) n.667C= c.84C= (p.Ala28=) c.309C= (p.Ala103=) c.438C= (p.Ala146=) | |
19 | g.29702862G>T | CA9351895 | C19orf12 | c.276C>A (p.Ala92=) c.*190C>A (n.*190C>A) n.667C>A c.84C>A (p.Ala28=) c.309C>A (p.Ala103=) c.438C>A (p.Ala146=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.29702863G>A | CA405142979 | C19orf12 | c.275C>T (p.Ala92Val) c.*189C>T (n.*189C>T) n.666C>T c.83C>T (p.Ala28Val) c.308C>T (p.Ala103Val) c.437C>T (p.Ala146Val) | |
19 | g.29702863G>C | CA405142981 | C19orf12 | c.275C>G (p.Ala92Gly) c.*189C>G (n.*189C>G) n.666C>G c.83C>G (p.Ala28Gly) c.308C>G (p.Ala103Gly) c.437C>G (p.Ala146Gly) | |
19 | g.29702863G>T | CA405142983 | C19orf12 | c.275C>A (p.Ala92Asp) c.*189C>A (n.*189C>A) n.666C>A c.83C>A (p.Ala28Asp) c.308C>A (p.Ala103Asp) c.437C>A (p.Ala146Asp) | |
19 | g.29702864C>A | CA405142992 | C19orf12 | c.274G>T (p.Ala92Ser) c.*188G>T (n.*188G>T) n.665G>T c.82G>T (p.Ala28Ser) c.307G>T (p.Ala103Ser) c.436G>T (p.Ala146Ser) | |
19 | g.29702864C>G | CA405142987 | C19orf12 | c.274G>C (p.Ala92Pro) c.*188G>C (n.*188G>C) n.665G>C c.82G>C (p.Ala28Pro) c.307G>C (p.Ala103Pro) c.436G>C (p.Ala146Pro) | |
19 | g.29702864C>T | CA405142990 | C19orf12 | c.274G>A (p.Ala92Thr) c.*188G>A (n.*188G>A) n.665G>A c.82G>A (p.Ala28Thr) c.307G>A (p.Ala103Thr) c.436G>A (p.Ala146Thr) | |
19 | g.29702865T>A | CA405142994 | C19orf12 | c.273A>T (p.Glu91Asp) c.*187A>T (n.*187A>T) n.664A>T c.81A>T (p.Glu27Asp) c.306A>T (p.Glu102Asp) c.435A>T (p.Glu145Asp) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.29702865T>C | CA506987830 | C19orf12 | c.273A>G (p.Glu91=) c.*187A>G (n.*187A>G) n.664A>G c.81A>G (p.Glu27=) c.306A>G (p.Glu102=) c.435A>G (p.Glu145=) | |
19 | g.29702865T>G | CA405142996 | C19orf12 | c.273A>C (p.Glu91Asp) c.*187A>C (n.*187A>C) n.664A>C c.81A>C (p.Glu27Asp) c.306A>C (p.Glu102Asp) c.435A>C (p.Glu145Asp) | |
19 | g.29702865T= | CA2330913581 | C19orf12 | c.273A= (p.Glu91=) c.*187A= (n.*187A=) n.664A= c.81A= (p.Glu27=) c.306A= (p.Glu102=) c.435A= (p.Glu145=) | |
19 | g.29702866T>A | CA405142999 | C19orf12 | c.272A>T (p.Glu91Val) c.*186A>T (n.*186A>T) n.663A>T c.80A>T (p.Glu27Val) c.305A>T (p.Glu102Val) c.434A>T (p.Glu145Val) | |
19 | g.29702866T>C | CA306785317 | C19orf12 | c.272A>G (p.Glu91Gly) c.*186A>G (n.*186A>G) n.663A>G c.80A>G (p.Glu27Gly) c.305A>G (p.Glu102Gly) c.434A>G (p.Glu145Gly) | dbSNP |
19 | g.29702866T>G | CA405143000 | C19orf12 | c.272A>C (p.Glu91Ala) c.*186A>C (n.*186A>C) n.663A>C c.80A>C (p.Glu27Ala) c.305A>C (p.Glu102Ala) c.434A>C (p.Glu145Ala) | dbSNP |
19 | g.29702866T= | CA2330913582 | C19orf12 | c.272A= (p.Glu91=) c.*186A= (n.*186A=) n.663A= c.80A= (p.Glu27=) c.305A= (p.Glu102=) c.434A= (p.Glu145=) | |
19 | g.29702867C>A | CA405143004 | C19orf12 | c.271G>T (p.Glu91Ter) c.*185G>T (n.*185G>T) n.662G>T c.79G>T (p.Glu27Ter) c.304G>T (p.Glu102Ter) c.433G>T (p.Glu145Ter) | |
19 | g.29702867C= | CA2330913583 | C19orf12 | c.271G= (p.Glu91=) c.*185G= (n.*185G=) n.662G= c.79G= (p.Glu27=) c.304G= (p.Glu102=) c.433G= (p.Glu145=) | |
19 | g.29702867C>G | CA405143006 | C19orf12 | c.271G>C (p.Glu91Gln) c.*185G>C (n.*185G>C) n.662G>C c.79G>C (p.Glu27Gln) c.304G>C (p.Glu102Gln) c.433G>C (p.Glu145Gln) | |
19 | g.29702867C>T | CA9351896 | C19orf12 | c.271G>A (p.Glu91Lys) c.*185G>A (n.*185G>A) n.662G>A c.79G>A (p.Glu27Lys) c.304G>A (p.Glu102Lys) c.433G>A (p.Glu145Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.29702867_29702868delinsCG | CA2330913584 | C19orf12 | c.270_271delinsCG (p.Asn90=) c.*184_*185delinsCG (n.*184_*185delinsCG) n.661_662delinsCG c.78_79delinsCG (p.Asn26=) c.303_304delinsCG (p.Asn101=) c.432_433delinsCG (p.Asn144=) | |
19 | g.29702868del | CA658658800 | C19orf12 | c.270del (p.Asn90LysfsTer18) c.*184del (n.*184del) n.661del c.78del (p.Asn26LysfsTer18) c.303del (p.Asn101LysfsTer18) c.270del (p.Asn90LysfsTer?) c.432del (p.Asn144LysfsTer18) | ClinVar dbSNP |
19 | g.29702868G>A | CA9351898 | C19orf12 | c.270C>T (p.Asn90=) c.*184C>T (n.*184C>T) n.661C>T c.78C>T (p.Asn26=) c.303C>T (p.Asn101=) c.432C>T (p.Asn144=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.29702868G>C | CA9351897 | C19orf12 | c.270C>G (p.Asn90Lys) c.*184C>G (n.*184C>G) n.661C>G c.78C>G (p.Asn26Lys) c.303C>G (p.Asn101Lys) c.432C>G (p.Asn144Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.29702868G= | CA2330913585 | C19orf12 | c.270C= (p.Asn90=) c.*184C= (n.*184C=) n.661C= c.78C= (p.Asn26=) c.303C= (p.Asn101=) c.432C= (p.Asn144=) | |
19 | g.29702868G>T | CA405143008 | C19orf12 | c.270C>A (p.Asn90Lys) c.*184C>A (n.*184C>A) n.661C>A c.78C>A (p.Asn26Lys) c.303C>A (p.Asn101Lys) c.432C>A (p.Asn144Lys) | |
19 | g.29702869T>A | CA405143009 | C19orf12 | c.269A>T (p.Asn90Ile) c.*183A>T (n.*183A>T) n.660A>T c.77A>T (p.Asn26Ile) c.302A>T (p.Asn101Ile) c.431A>T (p.Asn144Ile) | |
19 | g.29702869T>C | CA405143011 | C19orf12 | c.269A>G (p.Asn90Ser) c.*183A>G (n.*183A>G) n.660A>G c.77A>G (p.Asn26Ser) c.302A>G (p.Asn101Ser) c.431A>G (p.Asn144Ser) | |
19 | g.29702869T>G | CA405143014 | C19orf12 | c.269A>C (p.Asn90Thr) c.*183A>C (n.*183A>C) n.660A>C c.77A>C (p.Asn26Thr) c.302A>C (p.Asn101Thr) c.431A>C (p.Asn144Thr) | |
19 | g.29702870T>A | CA405143015 | C19orf12 | c.268A>T (p.Asn90Tyr) c.*182A>T (n.*182A>T) n.659A>T c.76A>T (p.Asn26Tyr) c.301A>T (p.Asn101Tyr) c.430A>T (p.Asn144Tyr) | |
19 | g.29702870T>C | CA405143017 | C19orf12 | c.268A>G (p.Asn90Asp) c.*182A>G (n.*182A>G) n.659A>G c.76A>G (p.Asn26Asp) c.301A>G (p.Asn101Asp) c.430A>G (p.Asn144Asp) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
19 | g.29702870T>G | CA405143018 | C19orf12 | c.268A>C (p.Asn90His) c.*182A>C (n.*182A>C) n.659A>C c.76A>C (p.Asn26His) c.301A>C (p.Asn101His) c.430A>C (p.Asn144His) | |
19 | g.29702870T= | CA2330913586 | C19orf12 | c.268A= (p.Asn90=) c.*182A= (n.*182A=) n.659A= c.76A= (p.Asn26=) c.301A= (p.Asn101=) c.430A= (p.Asn144=) | |
19 | g.29702871A= | CA2330913587 | C19orf12 | c.267T= (p.Phe89=) c.*181T= (n.*181T=) n.658T= c.75T= (p.Phe25=) c.300T= (p.Phe100=) c.429T= (p.Phe143=) | |
19 | g.29702871A>C | CA405143021 | C19orf12 | c.267T>G (p.Phe89Leu) c.*181T>G (n.*181T>G) n.658T>G c.75T>G (p.Phe25Leu) c.300T>G (p.Phe100Leu) c.429T>G (p.Phe143Leu) | |
19 | g.29702871A>G | CA506987866 | C19orf12 | c.267T>C (p.Phe89=) c.*181T>C (n.*181T>C) n.658T>C c.75T>C (p.Phe25=) c.300T>C (p.Phe100=) c.429T>C (p.Phe143=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.29702871A>T | CA405143019 | C19orf12 | c.267T>A (p.Phe89Leu) c.*181T>A (n.*181T>A) n.658T>A c.75T>A (p.Phe25Leu) c.300T>A (p.Phe100Leu) c.429T>A (p.Phe143Leu) | |
19 | g.29702873del | CA2580060373 | C19orf12 | c.267del (p.Phe89LeufsTer19) c.*181del (n.*181del) n.658del c.75del (p.Phe25LeufsTer19) c.300del (p.Phe100LeufsTer19) c.267del (p.Phe89LeufsTer?) c.429del (p.Phe143LeufsTer19) | ClinVar |
19 | g.29702872A>C | CA405143022 | C19orf12 | c.266T>G (p.Phe89Cys) c.*180T>G (n.*180T>G) n.657T>G c.74T>G (p.Phe25Cys) c.299T>G (p.Phe100Cys) c.428T>G (p.Phe143Cys) | |
19 | g.29702872A>G | CA405143025 | C19orf12 | c.266T>C (p.Phe89Ser) c.*180T>C (n.*180T>C) n.657T>C c.74T>C (p.Phe25Ser) c.299T>C (p.Phe100Ser) c.428T>C (p.Phe143Ser) | |
19 | g.29702872A>T | CA405143028 | C19orf12 | c.266T>A (p.Phe89Tyr) c.*180T>A (n.*180T>A) n.657T>A c.74T>A (p.Phe25Tyr) c.299T>A (p.Phe100Tyr) c.428T>A (p.Phe143Tyr) | |
19 | g.29702873A>C | CA405143030 | C19orf12 | c.265T>G (p.Phe89Val) c.*179T>G (n.*179T>G) n.656T>G c.73T>G (p.Phe25Val) c.298T>G (p.Phe100Val) c.427T>G (p.Phe143Val) | |
19 | g.29702873A>G | CA405143032 | C19orf12 | c.265T>C (p.Phe89Leu) c.*179T>C (n.*179T>C) n.656T>C c.73T>C (p.Phe25Leu) c.298T>C (p.Phe100Leu) c.427T>C (p.Phe143Leu) | gnomAD v4 |
19 | g.29702873A>T | CA405143033 | C19orf12 | c.265T>A (p.Phe89Ile) c.*179T>A (n.*179T>A) n.656T>A c.73T>A (p.Phe25Ile) c.298T>A (p.Phe100Ile) c.427T>A (p.Phe143Ile) | |
19 | g.29702874G>A | CA506987880 | C19orf12 | c.264C>T (p.Leu88=) c.*178C>T (n.*178C>T) n.655C>T c.72C>T (p.Leu24=) c.297C>T (p.Leu99=) c.426C>T (p.Leu142=) | gnomAD v4 |
19 | g.29702874G>C | CA506987882 | C19orf12 | c.264C>G (p.Leu88=) c.*178C>G (n.*178C>G) n.655C>G c.72C>G (p.Leu24=) c.297C>G (p.Leu99=) c.426C>G (p.Leu142=) | dbSNP |
19 | g.29702874G= | CA2330913588 | C19orf12 | c.264C= (p.Leu88=) c.*178C= (n.*178C=) n.655C= c.72C= (p.Leu24=) c.297C= (p.Leu99=) c.426C= (p.Leu142=) | |
19 | g.29702874G>T | CA506987881 | C19orf12 | c.264C>A (p.Leu88=) c.*178C>A (n.*178C>A) n.655C>A c.72C>A (p.Leu24=) c.297C>A (p.Leu99=) c.426C>A (p.Leu142=) | |
19 | g.29702874_29702877dup | CA2695228506 | C19orf12 | c.261_264dup (p.Phe89AlafsTer3) c.*175_*178dup (n.*175_*178dup) n.652_655dup c.69_72dup (p.Phe25AlafsTer3) c.294_297dup (p.Phe100AlafsTer3) c.423_426dup (p.Phe143AlafsTer3) | |
19 | g.29702875A>C | CA405143034 | C19orf12 | c.263T>G (p.Leu88Arg) c.*177T>G (n.*177T>G) n.654T>G c.71T>G (p.Leu24Arg) c.296T>G (p.Leu99Arg) c.425T>G (p.Leu142Arg) | |
19 | g.29702875A>G | CA405143035 | C19orf12 | c.263T>C (p.Leu88Pro) c.*177T>C (n.*177T>C) n.654T>C c.71T>C (p.Leu24Pro) c.296T>C (p.Leu99Pro) c.425T>C (p.Leu142Pro) | gnomAD v4 |
19 | g.29702875A>T | CA405143037 | C19orf12 | c.263T>A (p.Leu88His) c.*177T>A (n.*177T>A) n.654T>A c.71T>A (p.Leu24His) c.296T>A (p.Leu99His) c.425T>A (p.Leu142His) | |
19 | g.29702876G>A | CA405143039 | C19orf12 | c.262C>T (p.Leu88Phe) c.*176C>T (n.*176C>T) n.653C>T c.70C>T (p.Leu24Phe) c.295C>T (p.Leu99Phe) c.424C>T (p.Leu142Phe) | dbSNP COSMIC COSMIC |
19 | g.29702876G>C | CA405143041 | C19orf12 | c.262C>G (p.Leu88Val) c.*176C>G (n.*176C>G) n.653C>G c.70C>G (p.Leu24Val) c.295C>G (p.Leu99Val) c.424C>G (p.Leu142Val) | |
19 | g.29702876G= | CA2330913589 | C19orf12 | c.262C= (p.Leu88=) c.*176C= (n.*176C=) n.653C= c.70C= (p.Leu24=) c.295C= (p.Leu99=) c.424C= (p.Leu142=) | |
19 | g.29702876G>T | CA405143042 | C19orf12 | c.262C>A (p.Leu88Ile) c.*176C>A (n.*176C>A) n.653C>A c.70C>A (p.Leu24Ile) c.295C>A (p.Leu99Ile) c.424C>A (p.Leu142Ile) | |
19 | g.29702877C>A | CA405143049 | C19orf12 | c.261G>T (p.Arg87Ser) c.*175G>T (n.*175G>T) n.652G>T c.69G>T (p.Arg23Ser) c.294G>T (p.Arg98Ser) c.423G>T (p.Arg141Ser) | |
19 | g.29702877C= | CA2330913590 | C19orf12 | c.261G= (p.Arg87=) c.*175G= (n.*175G=) n.652G= c.69G= (p.Arg23=) c.294G= (p.Arg98=) c.423G= (p.Arg141=) | |
19 | g.29702877C>G | CA405143047 | C19orf12 | c.261G>C (p.Arg87Ser) c.*175G>C (n.*175G>C) n.652G>C c.69G>C (p.Arg23Ser) c.294G>C (p.Arg98Ser) c.423G>C (p.Arg141Ser) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.29702877C>T | CA506987890 | C19orf12 | c.261G>A (p.Arg87=) c.*175G>A (n.*175G>A) n.652G>A c.69G>A (p.Arg23=) c.294G>A (p.Arg98=) c.423G>A (p.Arg141=) | dbSNP |
19 | g.29702878C>A | CA405143051 | C19orf12 | c.260G>T (p.Arg87Met) c.*174G>T (n.*174G>T) n.651G>T c.68G>T (p.Arg23Met) c.293G>T (p.Arg98Met) c.422G>T (p.Arg141Met) | |
19 | g.29702878C= | CA2330913591 | C19orf12 | c.260G= (p.Arg87=) c.*174G= (n.*174G=) n.651G= c.68G= (p.Arg23=) c.293G= (p.Arg98=) c.422G= (p.Arg141=) | |
19 | g.29702878C>G | CA405143053 | C19orf12 | c.260G>C (p.Arg87Thr) c.*174G>C (n.*174G>C) n.651G>C c.68G>C (p.Arg23Thr) c.293G>C (p.Arg98Thr) c.422G>C (p.Arg141Thr) | |
19 | g.29702878C>T | CA9351899 | C19orf12 | c.260G>A (p.Arg87Lys) c.*174G>A (n.*174G>A) n.651G>A c.68G>A (p.Arg23Lys) c.293G>A (p.Arg98Lys) c.422G>A (p.Arg141Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.29702879T>A | CA405143057 | C19orf12 | c.259A>T (p.Arg87Trp) c.*173A>T (n.*173A>T) n.650A>T c.67A>T (p.Arg23Trp) c.292A>T (p.Arg98Trp) c.421A>T (p.Arg141Trp) | |
19 | g.29702879T>C | CA9351900 | C19orf12 | c.259A>G (p.Arg87Gly) c.*173A>G (n.*173A>G) n.650A>G c.67A>G (p.Arg23Gly) c.292A>G (p.Arg98Gly) c.421A>G (p.Arg141Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.29702879T>G | CA506987901 | C19orf12 | c.259A>C (p.Arg87=) c.*173A>C (n.*173A>C) n.650A>C c.67A>C (p.Arg23=) c.292A>C (p.Arg98=) c.421A>C (p.Arg141=) | |
19 | g.29702879T= | CA2330913592 | C19orf12 | c.259A= (p.Arg87=) c.*173A= (n.*173A=) n.650A= c.67A= (p.Arg23=) c.292A= (p.Arg98=) c.421A= (p.Arg141=) | |
19 | g.29702880C>A | CA405143062 | C19orf12 | c.258G>T (p.Gln86His) c.*172G>T (n.*172G>T) n.649G>T c.66G>T (p.Gln22His) c.291G>T (p.Gln97His) c.420G>T (p.Gln140His) | |
19 | g.29702880C= | CA2330913593 | C19orf12 | c.258G= (p.Gln86=) c.*172G= (n.*172G=) n.649G= c.66G= (p.Gln22=) c.291G= (p.Gln97=) c.420G= (p.Gln140=) | |
19 | g.29702880C>G | CA405143064 | C19orf12 | c.258G>C (p.Gln86His) c.*172G>C (n.*172G>C) n.649G>C c.66G>C (p.Gln22His) c.291G>C (p.Gln97His) c.420G>C (p.Gln140His) | |
19 | g.29702880C>T | CA506987910 | C19orf12 | c.258G>A (p.Gln86=) c.*172G>A (n.*172G>A) n.649G>A c.66G>A (p.Gln22=) c.291G>A (p.Gln97=) c.420G>A (p.Gln140=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.29702881T>A | CA405143065 | C19orf12 | c.257A>T (p.Gln86Leu) c.*171A>T (n.*171A>T) n.648A>T c.65A>T (p.Gln22Leu) c.290A>T (p.Gln97Leu) c.419A>T (p.Gln140Leu) | |
19 | g.29702881T>C | CA405143067 | C19orf12 | c.257A>G (p.Gln86Arg) c.*171A>G (n.*171A>G) n.648A>G c.65A>G (p.Gln22Arg) c.290A>G (p.Gln97Arg) c.419A>G (p.Gln140Arg) | |
19 | g.29702881T>G | CA405143068 | C19orf12 | c.257A>C (p.Gln86Pro) c.*171A>C (n.*171A>C) n.648A>C c.65A>C (p.Gln22Pro) c.290A>C (p.Gln97Pro) c.419A>C (p.Gln140Pro) | |
19 | g.29702882G>A | CA405143069 | C19orf12 | c.256C>T (p.Gln86Ter) c.*170C>T (n.*170C>T) n.647C>T c.64C>T (p.Gln22Ter) c.289C>T (p.Gln97Ter) c.418C>T (p.Gln140Ter) | |
19 | g.29702882G>C | CA405143070 | C19orf12 | c.256C>G (p.Gln86Glu) c.*170C>G (n.*170C>G) n.647C>G c.64C>G (p.Gln22Glu) c.289C>G (p.Gln97Glu) c.418C>G (p.Gln140Glu) | gnomAD v4 |
19 | g.29702882G>T | CA405143072 | C19orf12 | c.256C>A (p.Gln86Lys) c.*170C>A (n.*170C>A) n.647C>A c.64C>A (p.Gln22Lys) c.289C>A (p.Gln97Lys) c.418C>A (p.Gln140Lys) | |
19 | g.29702883T>A | CA405143078 | C19orf12 | c.255A>T (p.Gln85His) c.*169A>T (n.*169A>T) n.646A>T c.63A>T (p.Gln21His) c.288A>T (p.Gln96His) c.417A>T (p.Gln139His) | |
19 | g.29702883T>C | CA506987926 | C19orf12 | c.255A>G (p.Gln85=) c.*169A>G (n.*169A>G) n.646A>G c.63A>G (p.Gln21=) c.288A>G (p.Gln96=) c.417A>G (p.Gln139=) | gnomAD v4 |
19 | g.29702883T>G | CA405143076 | C19orf12 | c.255A>C (p.Gln85His) c.*169A>C (n.*169A>C) n.646A>C c.63A>C (p.Gln21His) c.288A>C (p.Gln96His) c.417A>C (p.Gln139His) | |
19 | g.29702884T>A | CA405143080 | C19orf12 | c.254A>T (p.Gln85Leu) c.*168A>T (n.*168A>T) n.645A>T c.62A>T (p.Gln21Leu) c.287A>T (p.Gln96Leu) c.416A>T (p.Gln139Leu) | |
19 | g.29702884T>C | CA405143082 | C19orf12 | c.254A>G (p.Gln85Arg) c.*168A>G (n.*168A>G) n.645A>G c.62A>G (p.Gln21Arg) c.287A>G (p.Gln96Arg) c.416A>G (p.Gln139Arg) | |
19 | g.29702884T>G | CA405143086 | C19orf12 | c.254A>C (p.Gln85Pro) c.*168A>C (n.*168A>C) n.645A>C c.62A>C (p.Gln21Pro) c.287A>C (p.Gln96Pro) c.416A>C (p.Gln139Pro) | |
19 | g.29702885G>A | CA405143088 | C19orf12 | c.253C>T (p.Gln85Ter) c.*167C>T (n.*167C>T) n.644C>T c.61C>T (p.Gln21Ter) c.286C>T (p.Gln96Ter) c.415C>T (p.Gln139Ter) | |
19 | g.29702885G>C | CA405143091 | C19orf12 | c.253C>G (p.Gln85Glu) c.*167C>G (n.*167C>G) n.644C>G c.61C>G (p.Gln21Glu) c.286C>G (p.Gln96Glu) c.415C>G (p.Gln139Glu) | |
19 | g.29702885G= | CA2330913594 | C19orf12 | c.253C= (p.Gln85=) c.*167C= (n.*167C=) n.644C= c.61C= (p.Gln21=) c.286C= (p.Gln96=) c.415C= (p.Gln139=) | |
19 | g.29702885G>T | CA405143092 | C19orf12 | c.253C>A (p.Gln85Lys) c.*167C>A (n.*167C>A) n.644C>A c.61C>A (p.Gln21Lys) c.286C>A (p.Gln96Lys) c.415C>A (p.Gln139Lys) | dbSNP gnomAD v4 |
19 | g.29702886C>A | CA405143095 | C19orf12 | c.252G>T (p.Glu84Asp) c.*166G>T (n.*166G>T) n.643G>T c.60G>T (p.Glu20Asp) c.285G>T (p.Glu95Asp) c.414G>T (p.Glu138Asp) | |
19 | g.29702886C>G | CA405143097 | C19orf12 | c.252G>C (p.Glu84Asp) c.*166G>C (n.*166G>C) n.643G>C c.60G>C (p.Glu20Asp) c.285G>C (p.Glu95Asp) c.414G>C (p.Glu138Asp) | |
19 | g.29702886C>T | CA506987944 | C19orf12 | c.252G>A (p.Glu84=) c.*166G>A (n.*166G>A) n.643G>A c.60G>A (p.Glu20=) c.285G>A (p.Glu95=) c.414G>A (p.Glu138=) | |
19 | g.29702887T>A | CA405143099 | C19orf12 | c.251A>T (p.Glu84Val) c.*165A>T (n.*165A>T) n.642A>T c.59A>T (p.Glu20Val) c.284A>T (p.Glu95Val) c.413A>T (p.Glu138Val) | |
19 | g.29702887T>C | CA405143101 | C19orf12 | c.251A>G (p.Glu84Gly) c.*165A>G (n.*165A>G) n.642A>G c.59A>G (p.Glu20Gly) c.284A>G (p.Glu95Gly) c.413A>G (p.Glu138Gly) | gnomAD v4 |
19 | g.29702887T>G | CA405143103 | C19orf12 | c.251A>C (p.Glu84Ala) c.*165A>C (n.*165A>C) n.642A>C c.59A>C (p.Glu20Ala) c.284A>C (p.Glu95Ala) c.413A>C (p.Glu138Ala) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.29702887T= | CA2330913595 | C19orf12 | c.251A= (p.Glu84=) c.*165A= (n.*165A=) n.642A= c.59A= (p.Glu20=) c.284A= (p.Glu95=) c.413A= (p.Glu138=) | |
19 | g.29702888C>A | CA405143105 | C19orf12 | c.250G>T (p.Glu84Ter) c.*164G>T (n.*164G>T) n.641G>T c.58G>T (p.Glu20Ter) c.283G>T (p.Glu95Ter) c.412G>T (p.Glu138Ter) | |
19 | g.29702888C= | CA2330913596 | C19orf12 | c.250G= (p.Glu84=) c.*164G= (n.*164G=) n.641G= c.58G= (p.Glu20=) c.283G= (p.Glu95=) c.412G= (p.Glu138=) | |
19 | g.29702888C>G | CA405143108 | C19orf12 | c.250G>C (p.Glu84Gln) c.*164G>C (n.*164G>C) n.641G>C c.58G>C (p.Glu20Gln) c.283G>C (p.Glu95Gln) c.412G>C (p.Glu138Gln) | |
19 | g.29702888C>T | CA9351901 | C19orf12 | c.250G>A (p.Glu84Lys) c.*164G>A (n.*164G>A) n.641G>A c.58G>A (p.Glu20Lys) c.283G>A (p.Glu95Lys) c.412G>A (p.Glu138Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
19 | g.29702889G>A | CA9351902 | C19orf12 | c.249C>T (p.Ala83=) c.*163C>T (n.*163C>T) n.640C>T c.57C>T (p.Ala19=) c.282C>T (p.Ala94=) c.411C>T (p.Ala137=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.29702889G>C | CA506987961 | C19orf12 | c.249C>G (p.Ala83=) c.*163C>G (n.*163C>G) n.640C>G c.57C>G (p.Ala19=) c.282C>G (p.Ala94=) c.411C>G (p.Ala137=) | gnomAD v4 |
19 | g.29702889G= | CA2330913597 | C19orf12 | c.249C= (p.Ala83=) c.*163C= (n.*163C=) n.640C= c.57C= (p.Ala19=) c.282C= (p.Ala94=) c.411C= (p.Ala137=) | |
19 | g.29702889G>T | CA506987963 | C19orf12 | c.249C>A (p.Ala83=) c.*163C>A (n.*163C>A) n.640C>A c.57C>A (p.Ala19=) c.282C>A (p.Ala94=) c.411C>A (p.Ala137=) | |
19 | g.29702891_29702894del | CA2580060374 | C19orf12 | c.246_249del (p.Ala83SerfsTer24) c.*160_*163del (n.*160_*163del) n.637_640del c.54_57del (p.Ala19SerfsTer24) c.279_282del (p.Ala94SerfsTer24) c.246_249del (p.Ala83SerfsTer?) c.408_411del (p.Ala137SerfsTer24) | |
19 | g.29702890G>A | CA405143116 | C19orf12 | c.248C>T (p.Ala83Val) c.*162C>T (n.*162C>T) n.639C>T c.56C>T (p.Ala19Val) c.281C>T (p.Ala94Val) c.410C>T (p.Ala137Val) | dbSNP gnomAD v4 |
19 | g.29702890G>C | CA405143112 | C19orf12 | c.248C>G (p.Ala83Gly) c.*162C>G (n.*162C>G) n.639C>G c.56C>G (p.Ala19Gly) c.281C>G (p.Ala94Gly) c.410C>G (p.Ala137Gly) | |
19 | g.29702890G= | CA2330913598 | C19orf12 | c.248C= (p.Ala83=) c.*162C= (n.*162C=) n.639C= c.56C= (p.Ala19=) c.281C= (p.Ala94=) c.410C= (p.Ala137=) | |
19 | g.29702890G>T | CA405143114 | C19orf12 | c.248C>A (p.Ala83Asp) c.*162C>A (n.*162C>A) n.639C>A c.56C>A (p.Ala19Asp) c.281C>A (p.Ala94Asp) c.410C>A (p.Ala137Asp) | |
19 | g.29702891C>A | CA405143117 | C19orf12 | c.247G>T (p.Ala83Ser) c.*161G>T (n.*161G>T) n.638G>T c.55G>T (p.Ala19Ser) c.280G>T (p.Ala94Ser) c.409G>T (p.Ala137Ser) | gnomAD v4 |
19 | g.29702891C>G | CA405143119 | C19orf12 | c.247G>C (p.Ala83Pro) c.*161G>C (n.*161G>C) n.638G>C c.55G>C (p.Ala19Pro) c.280G>C (p.Ala94Pro) c.409G>C (p.Ala137Pro) | |
19 | g.29702891C>T | CA405143121 | C19orf12 | c.247G>A (p.Ala83Thr) c.*161G>A (n.*161G>A) n.638G>A c.55G>A (p.Ala19Thr) c.280G>A (p.Ala94Thr) c.409G>A (p.Ala137Thr) | |
19 | g.29702892del | CA2695228507 | C19orf12 | c.246del (p.Ala83ProfsTer25) c.*160del (n.*160del) n.637del c.54del (p.Ala19ProfsTer25) c.279del (p.Ala94ProfsTer25) c.246del (p.Ala83ProfsTer?) c.408del (p.Ala137ProfsTer25) | |
19 | g.29702892A= | CA2330913599 | C19orf12 | c.246T= (p.Pro82=) c.*160T= (n.*160T=) n.637T= c.54T= (p.Pro18=) c.279T= (p.Pro93=) c.408T= (p.Pro136=) | |
19 | g.29702892A>C | CA506987983 | C19orf12 | c.246T>G (p.Pro82=) c.*160T>G (n.*160T>G) n.637T>G c.54T>G (p.Pro18=) c.279T>G (p.Pro93=) c.408T>G (p.Pro136=) | |
19 | g.29702892A>G | CA506987984 | C19orf12 | c.246T>C (p.Pro82=) c.*160T>C (n.*160T>C) n.637T>C c.54T>C (p.Pro18=) c.279T>C (p.Pro93=) c.408T>C (p.Pro136=) | dbSNP |
19 | g.29702892A>T | CA506987987 | C19orf12 | c.246T>A (p.Pro82=) c.*160T>A (n.*160T>A) n.637T>A c.54T>A (p.Pro18=) c.279T>A (p.Pro93=) c.408T>A (p.Pro136=) | |
19 | g.29702893G>A | CA405143128 | C19orf12 | c.245C>T (p.Pro82Leu) c.*159C>T (n.*159C>T) n.636C>T c.53C>T (p.Pro18Leu) c.278C>T (p.Pro93Leu) c.407C>T (p.Pro136Leu) | gnomAD v4 |
19 | g.29702893G>C | CA405143127 | C19orf12 | c.245C>G (p.Pro82Arg) c.*159C>G (n.*159C>G) n.636C>G c.53C>G (p.Pro18Arg) c.278C>G (p.Pro93Arg) c.407C>G (p.Pro136Arg) | |
19 | g.29702893G>T | CA405143125 | C19orf12 | c.245C>A (p.Pro82His) c.*159C>A (n.*159C>A) n.636C>A c.53C>A (p.Pro18His) c.278C>A (p.Pro93His) c.407C>A (p.Pro136His) | |
19 | g.29702897dup | CA2580060371 | C19orf12 | c.245dup (p.Ala83CysfsTer8) c.*159dup (n.*159dup) n.636dup c.53dup (p.Ala19CysfsTer8) c.278dup (p.Ala94CysfsTer8) c.407dup (p.Ala137CysfsTer8) | |
19 | g.29702897del | CA645611976 | C19orf12 | c.245del (p.Pro82LeufsTer26) c.*159del (n.*159del) n.636del c.53del (p.Pro18LeufsTer26) c.278del (p.Pro93LeufsTer26) c.245del (p.Pro82LeufsTer?) c.407del (p.Pro136LeufsTer26) | COSMIC COSMIC |
19 | g.29702894G>A | CA405143130 | C19orf12 | c.244C>T (p.Pro82Ser) c.*158C>T (n.*158C>T) n.635C>T c.52C>T (p.Pro18Ser) c.277C>T (p.Pro93Ser) c.406C>T (p.Pro136Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.29702894G>C | CA405143132 | C19orf12 | c.244C>G (p.Pro82Ala) c.*158C>G (n.*158C>G) n.635C>G c.52C>G (p.Pro18Ala) c.277C>G (p.Pro93Ala) c.406C>G (p.Pro136Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.29702894G= | CA2330913600 | C19orf12 | c.244C= (p.Pro82=) c.*158C= (n.*158C=) n.635C= c.52C= (p.Pro18=) c.277C= (p.Pro93=) c.406C= (p.Pro136=) | |
19 | g.29702894G>T | CA9351903 | C19orf12 | c.244C>A (p.Pro82Thr) c.*158C>A (n.*158C>A) n.635C>A c.52C>A (p.Pro18Thr) c.277C>A (p.Pro93Thr) c.406C>A (p.Pro136Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.29702895G>A | CA506988000 | C19orf12 | c.243C>T (p.Pro81=) c.*157C>T (n.*157C>T) n.634C>T c.51C>T (p.Pro17=) c.276C>T (p.Pro92=) c.405C>T (p.Pro135=) | dbSNP COSMIC COSMIC |
19 | g.29702895G>C | CA506988002 | C19orf12 | c.243C>G (p.Pro81=) c.*157C>G (n.*157C>G) n.634C>G c.51C>G (p.Pro17=) c.276C>G (p.Pro92=) c.405C>G (p.Pro135=) | |
19 | g.29702895G= | CA2330913601 | C19orf12 | c.243C= (p.Pro81=) c.*157C= (n.*157C=) n.634C= c.51C= (p.Pro17=) c.276C= (p.Pro92=) c.405C= (p.Pro135=) | |
19 | g.29702895G>T | CA506988004 | C19orf12 | c.243C>A (p.Pro81=) c.*157C>A (n.*157C>A) n.634C>A c.51C>A (p.Pro17=) c.276C>A (p.Pro92=) c.405C>A (p.Pro135=) | |
19 | g.29702896G>A | CA9351904 | C19orf12 | c.242C>T (p.Pro81Leu) c.*156C>T (n.*156C>T) n.633C>T c.50C>T (p.Pro17Leu) c.275C>T (p.Pro92Leu) c.404C>T (p.Pro135Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.29702896G>C | CA405143133 | C19orf12 | c.242C>G (p.Pro81Arg) c.*156C>G (n.*156C>G) n.633C>G c.50C>G (p.Pro17Arg) c.275C>G (p.Pro92Arg) c.404C>G (p.Pro135Arg) | |
19 | g.29702896G= | CA2330913602 | C19orf12 | c.242C= (p.Pro81=) c.*156C= (n.*156C=) n.633C= c.50C= (p.Pro17=) c.275C= (p.Pro92=) c.404C= (p.Pro135=) | |
19 | g.29702896G>T | CA405143134 | C19orf12 | c.242C>A (p.Pro81His) c.*156C>A (n.*156C>A) n.633C>A c.50C>A (p.Pro17His) c.275C>A (p.Pro92His) c.404C>A (p.Pro135His) | |
19 | g.29702897G>A | CA9351905 | C19orf12 | c.241C>T (p.Pro81Ser) c.*155C>T (n.*155C>T) n.632C>T c.49C>T (p.Pro17Ser) c.274C>T (p.Pro92Ser) c.403C>T (p.Pro135Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.29702897G>C | CA405143135 | C19orf12 | c.241C>G (p.Pro81Ala) c.*155C>G (n.*155C>G) n.632C>G c.49C>G (p.Pro17Ala) c.274C>G (p.Pro92Ala) c.403C>G (p.Pro135Ala) | |
19 | g.29702897G= | CA2330913603 | C19orf12 | c.241C= (p.Pro81=) c.*155C= (n.*155C=) n.632C= c.49C= (p.Pro17=) c.274C= (p.Pro92=) c.403C= (p.Pro135=) | |
19 | g.29702897G>T | CA405143137 | C19orf12 | c.241C>A (p.Pro81Thr) c.*155C>A (n.*155C>A) n.632C>A c.49C>A (p.Pro17Thr) c.274C>A (p.Pro92Thr) c.403C>A (p.Pro135Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.29702897_29702898dup | CA1139666388 | C19orf12 | c.240_241dup (p.Pro81ArgfsTer28) c.*154_*155dup (n.*154_*155dup) n.631_632dup c.48_49dup (p.Pro17ArgfsTer28) c.273_274dup (p.Pro92ArgfsTer28) c.240_241dup (p.Pro81ArgfsTer?) c.402_403dup (p.Pro135ArgfsTer28) | ClinVar dbSNP |
19 | g.29702897_29702898insT | CA2695228508 | C19orf12 | c.240_241insA (p.Pro81ThrfsTer10) c.*154_*155insA (n.*154_*155insA) n.631_632insA c.48_49insA (p.Pro17ThrfsTer10) c.273_274insA (p.Pro92ThrfsTer10) c.402_403insA (p.Pro135ThrfsTer10) | |
19 | g.29702898C>A | CA506988024 | C19orf12 | c.240G>T (p.Leu80=) c.*154G>T (n.*154G>T) n.631G>T c.48G>T (p.Leu16=) c.273G>T (p.Leu91=) c.402G>T (p.Leu134=) | ClinVar dbSNP |
19 | g.29702898C= | CA2330913604 | C19orf12 | c.240G= (p.Leu80=) c.*154G= (n.*154G=) n.631G= c.48G= (p.Leu16=) c.273G= (p.Leu91=) c.402G= (p.Leu134=) | |
19 | g.29702898C>G | CA506988022 | C19orf12 | c.240G>C (p.Leu80=) c.*154G>C (n.*154G>C) n.631G>C c.48G>C (p.Leu16=) c.273G>C (p.Leu91=) c.402G>C (p.Leu134=) | |
19 | g.29702898C>T | CA9351906 | C19orf12 | c.240G>A (p.Leu80=) c.*154G>A (n.*154G>A) n.631G>A c.48G>A (p.Leu16=) c.273G>A (p.Leu91=) c.402G>A (p.Leu134=) | dbSNP ExAC gnomAD v2 gnomAD v4 |