Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.232533936C>A | CA351004788 | CHRND | c.1053C>A (p.Phe351Leu) c.*235C>A (n.*235C>A) c.*694C>A (n.*694C>A) c.1008C>A (p.Phe336Leu) c.471C>A (p.Phe157Leu) c.750C>A (p.Phe250Leu) c.-4294966498C>A c.-4294966219C>A c.672C>A (p.Phe224Leu) | |
2 | g.232533936C>G | CA351004790 | CHRND | c.1053C>G (p.Phe351Leu) c.*235C>G (n.*235C>G) c.*694C>G (n.*694C>G) c.1008C>G (p.Phe336Leu) c.471C>G (p.Phe157Leu) c.750C>G (p.Phe250Leu) c.-4294966498C>G c.-4294966219C>G c.672C>G (p.Phe224Leu) | |
2 | g.232533936C>T | CA431952420 | CHRND | c.1053C>T (p.Phe351=) c.*235C>T (n.*235C>T) c.*694C>T (n.*694C>T) c.1008C>T (p.Phe336=) c.471C>T (p.Phe157=) c.750C>T (p.Phe250=) c.-4294966498C>T c.-4294966219C>T c.672C>T (p.Phe224=) | |
2 | g.232533937C>A | CA351004792 | CHRND | c.1054C>A (p.Leu352Met) c.*236C>A (n.*236C>A) c.*695C>A (n.*695C>A) c.1009C>A (p.Leu337Met) c.472C>A (p.Leu158Met) c.751C>A (p.Leu251Met) c.-4294966497C>A c.-4294966218C>A c.673C>A (p.Leu225Met) | |
2 | g.232533937C= | CA1335313934 | CHRND | c.1054C= (p.Leu352=) c.*236C= (n.*236C=) c.*695C= (n.*695C=) c.1009C= (p.Leu337=) c.472C= (p.Leu158=) c.751C= (p.Leu251=) c.-4294966497C= c.-4294966218C= c.673C= (p.Leu225=) | |
2 | g.232533937C>G | CA351004793 | CHRND | c.1054C>G (p.Leu352Val) c.*236C>G (n.*236C>G) c.*695C>G (n.*695C>G) c.1009C>G (p.Leu337Val) c.472C>G (p.Leu158Val) c.751C>G (p.Leu251Val) c.-4294966497C>G c.-4294966218C>G c.673C>G (p.Leu225Val) | |
2 | g.232533937C>T | CA66957355 | CHRND | c.1054C>T (p.Leu352=) c.*236C>T (n.*236C>T) c.*695C>T (n.*695C>T) c.1009C>T (p.Leu337=) c.472C>T (p.Leu158=) c.751C>T (p.Leu251=) c.-4294966497C>T c.-4294966218C>T c.673C>T (p.Leu225=) | dbSNP gnomAD v4 |
2 | g.232533938T>A | CA351004795 | CHRND | c.1055T>A (p.Leu352Gln) c.*237T>A (n.*237T>A) c.*696T>A (n.*696T>A) c.1010T>A (p.Leu337Gln) c.473T>A (p.Leu158Gln) c.752T>A (p.Leu251Gln) c.-4294966496T>A c.-4294966217T>A c.674T>A (p.Leu225Gln) | |
2 | g.232533938T>C | CA351004796 | CHRND | c.1055T>C (p.Leu352Pro) c.*237T>C (n.*237T>C) c.*696T>C (n.*696T>C) c.1010T>C (p.Leu337Pro) c.473T>C (p.Leu158Pro) c.752T>C (p.Leu251Pro) c.-4294966496T>C c.-4294966217T>C c.674T>C (p.Leu225Pro) | |
2 | g.232533938T>G | CA351004799 | CHRND | c.1055T>G (p.Leu352Arg) c.*237T>G (n.*237T>G) c.*696T>G (n.*696T>G) c.1010T>G (p.Leu337Arg) c.473T>G (p.Leu158Arg) c.752T>G (p.Leu251Arg) c.-4294966496T>G c.-4294966217T>G c.674T>G (p.Leu225Arg) | |
2 | g.232533939G>A | CA431952422 | CHRND | c.1056G>A (p.Leu352=) c.*238G>A (n.*238G>A) c.*697G>A (n.*697G>A) c.1011G>A (p.Leu337=) c.474G>A (p.Leu158=) c.753G>A (p.Leu251=) c.-4294966495G>A c.-4294966216G>A c.675G>A (p.Leu225=) | COSMIC |
2 | g.232533939G>C | CA431952423 | CHRND | c.1056G>C (p.Leu352=) c.*238G>C (n.*238G>C) c.*697G>C (n.*697G>C) c.1011G>C (p.Leu337=) c.474G>C (p.Leu158=) c.753G>C (p.Leu251=) c.-4294966495G>C c.-4294966216G>C c.675G>C (p.Leu225=) | |
2 | g.232533939G>T | CA431952424 | CHRND | c.1056G>T (p.Leu352=) c.*238G>T (n.*238G>T) c.*697G>T (n.*697G>T) c.1011G>T (p.Leu337=) c.474G>T (p.Leu158=) c.753G>T (p.Leu251=) c.-4294966495G>T c.-4294966216G>T c.675G>T (p.Leu225=) | ClinVar |
2 | g.232533943_232533954del | CA2577278115 | CHRND | c.1060_1071del (p.Thr354_Glu357del) c.*242_*253del (n.*242_*253del) c.*701_*712del (n.*701_*712del) c.1015_1026del (p.Thr339_Glu342del) c.478_489del (p.Thr160_Glu163del) c.757_768del (p.Thr253_Glu256del) c.-4294966491_-4294966480del c.-4294966212_-4294966201del c.679_690del (p.Thr227_Glu230del) | gnomAD v4 |
2 | g.232533940G>A | CA351004801 | CHRND | c.1057G>A (p.Glu353Lys) c.*239G>A (n.*239G>A) c.*698G>A (n.*698G>A) c.1012G>A (p.Glu338Lys) c.475G>A (p.Glu159Lys) c.754G>A (p.Glu252Lys) c.-4294966494G>A c.-4294966215G>A c.676G>A (p.Glu226Lys) | |
2 | g.232533940G>C | CA351004802 | CHRND | c.1057G>C (p.Glu353Gln) c.*239G>C (n.*239G>C) c.*698G>C (n.*698G>C) c.1012G>C (p.Glu338Gln) c.475G>C (p.Glu159Gln) c.754G>C (p.Glu252Gln) c.-4294966494G>C c.-4294966215G>C c.676G>C (p.Glu226Gln) | |
2 | g.232533940G>T | CA351004805 | CHRND | c.1057G>T (p.Glu353Ter) c.*239G>T (n.*239G>T) c.*698G>T (n.*698G>T) c.1012G>T (p.Glu338Ter) c.475G>T (p.Glu159Ter) c.754G>T (p.Glu252Ter) c.-4294966494G>T c.-4294966215G>T c.676G>T (p.Glu226Ter) | |
2 | g.232533941A>C | CA351004809 | CHRND | c.1058A>C (p.Glu353Ala) c.*240A>C (n.*240A>C) c.*699A>C (n.*699A>C) c.1013A>C (p.Glu338Ala) c.476A>C (p.Glu159Ala) c.755A>C (p.Glu252Ala) c.-4294966493A>C c.-4294966214A>C c.677A>C (p.Glu226Ala) | |
2 | g.232533941A>G | CA351004808 | CHRND | c.1058A>G (p.Glu353Gly) c.*240A>G (n.*240A>G) c.*699A>G (n.*699A>G) c.1013A>G (p.Glu338Gly) c.476A>G (p.Glu159Gly) c.755A>G (p.Glu252Gly) c.-4294966493A>G c.-4294966214A>G c.677A>G (p.Glu226Gly) | |
2 | g.232533941A>T | CA351004807 | CHRND | c.1058A>T (p.Glu353Val) c.*240A>T (n.*240A>T) c.*699A>T (n.*699A>T) c.1013A>T (p.Glu338Val) c.476A>T (p.Glu159Val) c.755A>T (p.Glu252Val) c.-4294966493A>T c.-4294966214A>T c.677A>T (p.Glu226Val) | |
2 | g.232533942G>A | CA431952425 | CHRND | c.1059G>A (p.Glu353=) c.*241G>A (n.*241G>A) c.*700G>A (n.*700G>A) c.1014G>A (p.Glu338=) c.477G>A (p.Glu159=) c.756G>A (p.Glu252=) c.-4294966492G>A c.-4294966213G>A c.678G>A (p.Glu226=) | |
2 | g.232533942G>C | CA351004812 | CHRND | c.1059G>C (p.Glu353Asp) c.*241G>C (n.*241G>C) c.*700G>C (n.*700G>C) c.1014G>C (p.Glu338Asp) c.477G>C (p.Glu159Asp) c.756G>C (p.Glu252Asp) c.-4294966492G>C c.-4294966213G>C c.678G>C (p.Glu226Asp) | |
2 | g.232533942G>T | CA351004816 | CHRND | c.1059G>T (p.Glu353Asp) c.*241G>T (n.*241G>T) c.*700G>T (n.*700G>T) c.1014G>T (p.Glu338Asp) c.477G>T (p.Glu159Asp) c.756G>T (p.Glu252Asp) c.-4294966492G>T c.-4294966213G>T c.678G>T (p.Glu226Asp) | |
2 | g.232533943A>C | CA351004818 | CHRND | c.1060A>C (p.Thr354Pro) c.*242A>C (n.*242A>C) c.*701A>C (n.*701A>C) c.1015A>C (p.Thr339Pro) c.478A>C (p.Thr160Pro) c.757A>C (p.Thr253Pro) c.-4294966491A>C c.-4294966212A>C c.679A>C (p.Thr227Pro) | |
2 | g.232533943A>G | CA351004822 | CHRND | c.1060A>G (p.Thr354Ala) c.*242A>G (n.*242A>G) c.*701A>G (n.*701A>G) c.1015A>G (p.Thr339Ala) c.478A>G (p.Thr160Ala) c.757A>G (p.Thr253Ala) c.-4294966491A>G c.-4294966212A>G c.679A>G (p.Thr227Ala) | |
2 | g.232533943A>T | CA351004823 | CHRND | c.1060A>T (p.Thr354Ser) c.*242A>T (n.*242A>T) c.*701A>T (n.*701A>T) c.1015A>T (p.Thr339Ser) c.478A>T (p.Thr160Ser) c.757A>T (p.Thr253Ser) c.-4294966491A>T c.-4294966212A>T c.679A>T (p.Thr227Ser) | |
2 | g.232533944C>A | CA351004824 | CHRND | c.1061C>A (p.Thr354Asn) c.*243C>A (n.*243C>A) c.*702C>A (n.*702C>A) c.1016C>A (p.Thr339Asn) c.479C>A (p.Thr160Asn) c.758C>A (p.Thr253Asn) c.-4294966490C>A c.-4294966211C>A c.680C>A (p.Thr227Asn) | dbSNP |
2 | g.232533944C= | CA1335313935 | CHRND | c.1061C= (p.Thr354=) c.*243C= (n.*243C=) c.*702C= (n.*702C=) c.1016C= (p.Thr339=) c.479C= (p.Thr160=) c.758C= (p.Thr253=) c.-4294966490C= c.-4294966211C= c.680C= (p.Thr227=) | |
2 | g.232533944C>G | CA351004825 | CHRND | c.1061C>G (p.Thr354Ser) c.*243C>G (n.*243C>G) c.*702C>G (n.*702C>G) c.1016C>G (p.Thr339Ser) c.479C>G (p.Thr160Ser) c.758C>G (p.Thr253Ser) c.-4294966490C>G c.-4294966211C>G c.680C>G (p.Thr227Ser) | |
2 | g.232533944C>T | CA351004826 | CHRND | c.1061C>T (p.Thr354Ile) c.*243C>T (n.*243C>T) c.*702C>T (n.*702C>T) c.1016C>T (p.Thr339Ile) c.479C>T (p.Thr160Ile) c.758C>T (p.Thr253Ile) c.-4294966490C>T c.-4294966211C>T c.680C>T (p.Thr227Ile) | dbSNP |
2 | g.232533945C>A | CA431952429 | CHRND | c.1062C>A (p.Thr354=) c.*244C>A (n.*244C>A) c.*703C>A (n.*703C>A) c.1017C>A (p.Thr339=) c.480C>A (p.Thr160=) c.759C>A (p.Thr253=) c.-4294966489C>A c.-4294966210C>A c.681C>A (p.Thr227=) | |
2 | g.232533945C= | CA1335313936 | CHRND | c.1062C= (p.Thr354=) c.*244C= (n.*244C=) c.*703C= (n.*703C=) c.1017C= (p.Thr339=) c.480C= (p.Thr160=) c.759C= (p.Thr253=) c.-4294966489C= c.-4294966210C= c.681C= (p.Thr227=) | |
2 | g.232533945C>G | CA431952431 | CHRND | c.1062C>G (p.Thr354=) c.*244C>G (n.*244C>G) c.*703C>G (n.*703C>G) c.1017C>G (p.Thr339=) c.480C>G (p.Thr160=) c.759C>G (p.Thr253=) c.-4294966489C>G c.-4294966210C>G c.681C>G (p.Thr227=) | |
2 | g.232533945C>T | CA431952433 | CHRND | c.1062C>T (p.Thr354=) c.*244C>T (n.*244C>T) c.*703C>T (n.*703C>T) c.1017C>T (p.Thr339=) c.480C>T (p.Thr160=) c.759C>T (p.Thr253=) c.-4294966489C>T c.-4294966210C>T c.681C>T (p.Thr227=) | dbSNP gnomAD v4 |
2 | g.232533946C>A | CA351004827 | CHRND | c.1063C>A (p.Leu355Met) c.*245C>A (n.*245C>A) c.*704C>A (n.*704C>A) c.1018C>A (p.Leu340Met) c.481C>A (p.Leu161Met) c.760C>A (p.Leu254Met) c.-4294966488C>A c.-4294966209C>A c.682C>A (p.Leu228Met) | |
2 | g.232533946C>G | CA351004828 | CHRND | c.1063C>G (p.Leu355Val) c.*245C>G (n.*245C>G) c.*704C>G (n.*704C>G) c.1018C>G (p.Leu340Val) c.481C>G (p.Leu161Val) c.760C>G (p.Leu254Val) c.-4294966488C>G c.-4294966209C>G c.682C>G (p.Leu228Val) | |
2 | g.232533946C>T | CA431952434 | CHRND | c.1063C>T (p.Leu355=) c.*245C>T (n.*245C>T) c.*704C>T (n.*704C>T) c.1018C>T (p.Leu340=) c.481C>T (p.Leu161=) c.760C>T (p.Leu254=) c.-4294966488C>T c.-4294966209C>T c.682C>T (p.Leu228=) | |
2 | g.232533947T>A | CA351004830 | CHRND | c.1064T>A (p.Leu355Gln) c.*246T>A (n.*246T>A) c.*705T>A (n.*705T>A) c.1019T>A (p.Leu340Gln) c.482T>A (p.Leu161Gln) c.761T>A (p.Leu254Gln) c.-4294966487T>A c.-4294966208T>A c.683T>A (p.Leu228Gln) | |
2 | g.232533947T>C | CA351004838 | CHRND | c.1064T>C (p.Leu355Pro) c.*246T>C (n.*246T>C) c.*705T>C (n.*705T>C) c.1019T>C (p.Leu340Pro) c.482T>C (p.Leu161Pro) c.761T>C (p.Leu254Pro) c.-4294966487T>C c.-4294966208T>C c.683T>C (p.Leu228Pro) | |
2 | g.232533947T>G | CA351004841 | CHRND | c.1064T>G (p.Leu355Arg) c.*246T>G (n.*246T>G) c.*705T>G (n.*705T>G) c.1019T>G (p.Leu340Arg) c.482T>G (p.Leu161Arg) c.761T>G (p.Leu254Arg) c.-4294966487T>G c.-4294966208T>G c.683T>G (p.Leu228Arg) | |
2 | g.232533948G>A | CA431952438 | CHRND | c.1065G>A (p.Leu355=) c.*247G>A (n.*247G>A) c.*706G>A (n.*706G>A) c.1020G>A (p.Leu340=) c.483G>A (p.Leu161=) c.762G>A (p.Leu254=) c.-4294966486G>A c.-4294966207G>A c.684G>A (p.Leu228=) | |
2 | g.232533948G>C | CA431952437 | CHRND | c.1065G>C (p.Leu355=) c.*247G>C (n.*247G>C) c.*706G>C (n.*706G>C) c.1020G>C (p.Leu340=) c.483G>C (p.Leu161=) c.762G>C (p.Leu254=) c.-4294966486G>C c.-4294966207G>C c.684G>C (p.Leu228=) | |
2 | g.232533948G>T | CA431952436 | CHRND | c.1065G>T (p.Leu355=) c.*247G>T (n.*247G>T) c.*706G>T (n.*706G>T) c.1020G>T (p.Leu340=) c.483G>T (p.Leu161=) c.762G>T (p.Leu254=) c.-4294966486G>T c.-4294966207G>T c.684G>T (p.Leu228=) | |
2 | g.232533949C>A | CA351004846 | CHRND | c.1066C>A (p.Pro356Thr) c.*248C>A (n.*248C>A) c.*707C>A (n.*707C>A) c.1021C>A (p.Pro341Thr) c.484C>A (p.Pro162Thr) c.763C>A (p.Pro255Thr) c.-4294966485C>A c.-4294966206C>A c.685C>A (p.Pro229Thr) | gnomAD v4 |
2 | g.232533949C= | CA1335313937 | CHRND | c.1066C= (p.Pro356=) c.*248C= (n.*248C=) c.*707C= (n.*707C=) c.1021C= (p.Pro341=) c.484C= (p.Pro162=) c.763C= (p.Pro255=) c.-4294966485C= c.-4294966206C= c.685C= (p.Pro229=) | |
2 | g.232533949C>G | CA351004849 | CHRND | c.1066C>G (p.Pro356Ala) c.*248C>G (n.*248C>G) c.*707C>G (n.*707C>G) c.1021C>G (p.Pro341Ala) c.484C>G (p.Pro162Ala) c.763C>G (p.Pro255Ala) c.-4294966485C>G c.-4294966206C>G c.685C>G (p.Pro229Ala) | |
2 | g.232533949C>T | CA2168257 | CHRND | c.1066C>T (p.Pro356Ser) c.*248C>T (n.*248C>T) c.*707C>T (n.*707C>T) c.1021C>T (p.Pro341Ser) c.484C>T (p.Pro162Ser) c.763C>T (p.Pro255Ser) c.-4294966485C>T c.-4294966206C>T c.685C>T (p.Pro229Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232533950C>A | CA351004850 | CHRND | c.1067C>A (p.Pro356Gln) c.*249C>A (n.*249C>A) c.*708C>A (n.*708C>A) c.1022C>A (p.Pro341Gln) c.485C>A (p.Pro162Gln) c.764C>A (p.Pro255Gln) c.-4294966484C>A c.-4294966205C>A c.686C>A (p.Pro229Gln) | |
2 | g.232533950C= | CA1335313938 | CHRND | c.1067C= (p.Pro356=) c.*249C= (n.*249C=) c.*708C= (n.*708C=) c.1022C= (p.Pro341=) c.485C= (p.Pro162=) c.764C= (p.Pro255=) c.-4294966484C= c.-4294966205C= c.686C= (p.Pro229=) | |
2 | g.232533950C>G | CA351004852 | CHRND | c.1067C>G (p.Pro356Arg) c.*249C>G (n.*249C>G) c.*708C>G (n.*708C>G) c.1022C>G (p.Pro341Arg) c.485C>G (p.Pro162Arg) c.764C>G (p.Pro255Arg) c.-4294966484C>G c.-4294966205C>G c.686C>G (p.Pro229Arg) | |
2 | g.232533950C>T | CA2168258 | CHRND | c.1067C>T (p.Pro356Leu) c.*249C>T (n.*249C>T) c.*708C>T (n.*708C>T) c.1022C>T (p.Pro341Leu) c.485C>T (p.Pro162Leu) c.764C>T (p.Pro255Leu) c.-4294966484C>T c.-4294966205C>T c.686C>T (p.Pro229Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232533951G>A | CA2168259 | CHRND | c.1068G>A (p.Pro356=) c.*250G>A (n.*250G>A) c.*709G>A (n.*709G>A) c.1023G>A (p.Pro341=) c.486G>A (p.Pro162=) c.765G>A (p.Pro255=) c.-4294966483G>A c.-4294966204G>A c.687G>A (p.Pro229=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232533951G>C | CA431952442 | CHRND | c.1068G>C (p.Pro356=) c.*250G>C (n.*250G>C) c.*709G>C (n.*709G>C) c.1023G>C (p.Pro341=) c.486G>C (p.Pro162=) c.765G>C (p.Pro255=) c.-4294966483G>C c.-4294966204G>C c.687G>C (p.Pro229=) | |
2 | g.232533951G= | CA1335313939 | CHRND | c.1068G= (p.Pro356=) c.*250G= (n.*250G=) c.*709G= (n.*709G=) c.1023G= (p.Pro341=) c.486G= (p.Pro162=) c.765G= (p.Pro255=) c.-4294966483G= c.-4294966204G= c.687G= (p.Pro229=) | |
2 | g.232533951G>T | CA431952443 | CHRND | c.1068G>T (p.Pro356=) c.*250G>T (n.*250G>T) c.*709G>T (n.*709G>T) c.1023G>T (p.Pro341=) c.486G>T (p.Pro162=) c.765G>T (p.Pro255=) c.-4294966483G>T c.-4294966204G>T c.687G>T (p.Pro229=) | |
2 | g.232533952G>A | CA351004857 | CHRND | c.1069G>A (p.Glu357Lys) c.*251G>A (n.*251G>A) c.*710G>A (n.*710G>A) c.1024G>A (p.Glu342Lys) c.487G>A (p.Glu163Lys) c.766G>A (p.Glu256Lys) c.-4294966482G>A c.-4294966203G>A c.688G>A (p.Glu230Lys) | |
2 | g.232533952G>C | CA351004859 | CHRND | c.1069G>C (p.Glu357Gln) c.*251G>C (n.*251G>C) c.*710G>C (n.*710G>C) c.1024G>C (p.Glu342Gln) c.487G>C (p.Glu163Gln) c.766G>C (p.Glu256Gln) c.-4294966482G>C c.-4294966203G>C c.688G>C (p.Glu230Gln) | |
2 | g.232533952G>T | CA351004861 | CHRND | c.1069G>T (p.Glu357Ter) c.*251G>T (n.*251G>T) c.*710G>T (n.*710G>T) c.1024G>T (p.Glu342Ter) c.487G>T (p.Glu163Ter) c.766G>T (p.Glu256Ter) c.-4294966482G>T c.-4294966203G>T c.688G>T (p.Glu230Ter) | |
2 | g.232533953A>C | CA351004863 | CHRND | c.1070A>C (p.Glu357Ala) c.*252A>C (n.*252A>C) c.*711A>C (n.*711A>C) c.1025A>C (p.Glu342Ala) c.488A>C (p.Glu163Ala) c.767A>C (p.Glu256Ala) c.-4294966481A>C c.-4294966202A>C c.689A>C (p.Glu230Ala) | |
2 | g.232533953A>G | CA351004865 | CHRND | c.1070A>G (p.Glu357Gly) c.*252A>G (n.*252A>G) c.*711A>G (n.*711A>G) c.1025A>G (p.Glu342Gly) c.488A>G (p.Glu163Gly) c.767A>G (p.Glu256Gly) c.-4294966481A>G c.-4294966202A>G c.689A>G (p.Glu230Gly) | |
2 | g.232533953A>T | CA351004867 | CHRND | c.1070A>T (p.Glu357Val) c.*252A>T (n.*252A>T) c.*711A>T (n.*711A>T) c.1025A>T (p.Glu342Val) c.488A>T (p.Glu163Val) c.767A>T (p.Glu256Val) c.-4294966481A>T c.-4294966202A>T c.689A>T (p.Glu230Val) | |
2 | g.232533954G>A | CA431952446 | CHRND | c.1071G>A (p.Glu357=) c.*253G>A (n.*253G>A) c.*712G>A (n.*712G>A) c.1026G>A (p.Glu342=) c.489G>A (p.Glu163=) c.768G>A (p.Glu256=) c.-4294966480G>A c.-4294966201G>A c.690G>A (p.Glu230=) | |
2 | g.232533954G>C | CA351004869 | CHRND | c.1071G>C (p.Glu357Asp) c.*253G>C (n.*253G>C) c.*712G>C (n.*712G>C) c.1026G>C (p.Glu342Asp) c.489G>C (p.Glu163Asp) c.768G>C (p.Glu256Asp) c.-4294966480G>C c.-4294966201G>C c.690G>C (p.Glu230Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.232533954G= | CA1335313940 | CHRND | c.1071G= (p.Glu357=) c.*253G= (n.*253G=) c.*712G= (n.*712G=) c.1026G= (p.Glu342=) c.489G= (p.Glu163=) c.768G= (p.Glu256=) c.-4294966480G= c.-4294966201G= c.690G= (p.Glu230=) | |
2 | g.232533954G>T | CA351004870 | CHRND | c.1071G>T (p.Glu357Asp) c.*253G>T (n.*253G>T) c.*712G>T (n.*712G>T) c.1026G>T (p.Glu342Asp) c.489G>T (p.Glu163Asp) c.768G>T (p.Glu256Asp) c.-4294966480G>T c.-4294966201G>T c.690G>T (p.Glu230Asp) | |
2 | g.232533955C>A | CA351004876 | CHRND | c.1072C>A (p.Leu358Ile) c.*254C>A (n.*254C>A) c.*713C>A (n.*713C>A) c.1027C>A (p.Leu343Ile) c.490C>A (p.Leu164Ile) c.769C>A (p.Leu257Ile) c.-4294966479C>A c.-4294966200C>A c.691C>A (p.Leu231Ile) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.232533955C= | CA1335313941 | CHRND | c.1072C= (p.Leu358=) c.*254C= (n.*254C=) c.*713C= (n.*713C=) c.1027C= (p.Leu343=) c.490C= (p.Leu164=) c.769C= (p.Leu257=) c.-4294966479C= c.-4294966200C= c.691C= (p.Leu231=) | |
2 | g.232533955C>G | CA351004872 | CHRND | c.1072C>G (p.Leu358Val) c.*254C>G (n.*254C>G) c.*713C>G (n.*713C>G) c.1027C>G (p.Leu343Val) c.490C>G (p.Leu164Val) c.769C>G (p.Leu257Val) c.-4294966479C>G c.-4294966200C>G c.691C>G (p.Leu231Val) | gnomAD v4 |
2 | g.232533955C>T | CA351004874 | CHRND | c.1072C>T (p.Leu358Phe) c.*254C>T (n.*254C>T) c.*713C>T (n.*713C>T) c.1027C>T (p.Leu343Phe) c.490C>T (p.Leu164Phe) c.769C>T (p.Leu257Phe) c.-4294966479C>T c.-4294966200C>T c.691C>T (p.Leu231Phe) | ClinVar |
2 | g.232533956T>A | CA351004877 | CHRND | c.1073T>A (p.Leu358His) c.*255T>A (n.*255T>A) c.*714T>A (n.*714T>A) c.1028T>A (p.Leu343His) c.491T>A (p.Leu164His) c.770T>A (p.Leu257His) c.-4294966478T>A c.-4294966199T>A c.692T>A (p.Leu231His) | |
2 | g.232533956T>C | CA351004878 | CHRND | c.1073T>C (p.Leu358Pro) c.*255T>C (n.*255T>C) c.*714T>C (n.*714T>C) c.1028T>C (p.Leu343Pro) c.491T>C (p.Leu164Pro) c.770T>C (p.Leu257Pro) c.-4294966478T>C c.-4294966199T>C c.692T>C (p.Leu231Pro) | |
2 | g.232533956T>G | CA351004879 | CHRND | c.1073T>G (p.Leu358Arg) c.*255T>G (n.*255T>G) c.*714T>G (n.*714T>G) c.1028T>G (p.Leu343Arg) c.491T>G (p.Leu164Arg) c.770T>G (p.Leu257Arg) c.-4294966478T>G c.-4294966199T>G c.692T>G (p.Leu231Arg) | |
2 | g.232533957C>A | CA431952450 | CHRND | c.1074C>A (p.Leu358=) c.*256C>A (n.*256C>A) c.*715C>A (n.*715C>A) c.1029C>A (p.Leu343=) c.492C>A (p.Leu164=) c.771C>A (p.Leu257=) c.-4294966477C>A c.-4294966198C>A c.693C>A (p.Leu231=) | |
2 | g.232533957C>G | CA431952451 | CHRND | c.1074C>G (p.Leu358=) c.*256C>G (n.*256C>G) c.*715C>G (n.*715C>G) c.1029C>G (p.Leu343=) c.492C>G (p.Leu164=) c.771C>G (p.Leu257=) c.-4294966477C>G c.-4294966198C>G c.693C>G (p.Leu231=) | |
2 | g.232533957C>T | CA431952452 | CHRND | c.1074C>T (p.Leu358=) c.*256C>T (n.*256C>T) c.*715C>T (n.*715C>T) c.1029C>T (p.Leu343=) c.492C>T (p.Leu164=) c.771C>T (p.Leu257=) c.-4294966477C>T c.-4294966198C>T c.693C>T (p.Leu231=) | |
2 | g.232533958C>A | CA351004880 | CHRND | c.1075C>A (p.Leu359Met) c.*257C>A (n.*257C>A) c.*716C>A (n.*716C>A) c.1030C>A (p.Leu344Met) c.493C>A (p.Leu165Met) c.772C>A (p.Leu258Met) c.-4294966476C>A c.-4294966197C>A c.694C>A (p.Leu232Met) | |
2 | g.232533958C>G | CA351004881 | CHRND | c.1075C>G (p.Leu359Val) c.*257C>G (n.*257C>G) c.*716C>G (n.*716C>G) c.1030C>G (p.Leu344Val) c.493C>G (p.Leu165Val) c.772C>G (p.Leu258Val) c.-4294966476C>G c.-4294966197C>G c.694C>G (p.Leu232Val) | |
2 | g.232533958C>T | CA431952454 | CHRND | c.1075C>T (p.Leu359=) c.*257C>T (n.*257C>T) c.*716C>T (n.*716C>T) c.1030C>T (p.Leu344=) c.493C>T (p.Leu165=) c.772C>T (p.Leu258=) c.-4294966476C>T c.-4294966197C>T c.694C>T (p.Leu232=) | gnomAD v4 |
2 | g.232533959T>A | CA351004884 | CHRND | c.1076T>A (p.Leu359Gln) c.*258T>A (n.*258T>A) c.*717T>A (n.*717T>A) c.1031T>A (p.Leu344Gln) c.494T>A (p.Leu165Gln) c.773T>A (p.Leu258Gln) c.-4294966475T>A c.-4294966196T>A c.695T>A (p.Leu232Gln) | |
2 | g.232533959T>C | CA351004887 | CHRND | c.1076T>C (p.Leu359Pro) c.*258T>C (n.*258T>C) c.*717T>C (n.*717T>C) c.1031T>C (p.Leu344Pro) c.494T>C (p.Leu165Pro) c.773T>C (p.Leu258Pro) c.-4294966475T>C c.-4294966196T>C c.695T>C (p.Leu232Pro) | |
2 | g.232533959T>G | CA351004890 | CHRND | c.1076T>G (p.Leu359Arg) c.*258T>G (n.*258T>G) c.*717T>G (n.*717T>G) c.1031T>G (p.Leu344Arg) c.494T>G (p.Leu165Arg) c.773T>G (p.Leu258Arg) c.-4294966475T>G c.-4294966196T>G c.695T>G (p.Leu232Arg) | |
2 | g.232533960G>A | CA431952455 | CHRND | c.1077G>A (p.Leu359=) c.*259G>A (n.*259G>A) c.*718G>A (n.*718G>A) c.1032G>A (p.Leu344=) c.495G>A (p.Leu165=) c.774G>A (p.Leu258=) c.-4294966474G>A c.-4294966195G>A c.696G>A (p.Leu232=) | |
2 | g.232533960G>C | CA431952456 | CHRND | c.1077G>C (p.Leu359=) c.*259G>C (n.*259G>C) c.*718G>C (n.*718G>C) c.1032G>C (p.Leu344=) c.495G>C (p.Leu165=) c.774G>C (p.Leu258=) c.-4294966474G>C c.-4294966195G>C c.696G>C (p.Leu232=) | |
2 | g.232533960G= | CA1335313942 | CHRND | c.1077G= (p.Leu359=) c.*259G= (n.*259G=) c.*718G= (n.*718G=) c.1032G= (p.Leu344=) c.495G= (p.Leu165=) c.774G= (p.Leu258=) c.-4294966474G= c.-4294966195G= c.696G= (p.Leu232=) | |
2 | g.232533960G>T | CA431952457 | CHRND | c.1077G>T (p.Leu359=) c.*259G>T (n.*259G>T) c.*718G>T (n.*718G>T) c.1032G>T (p.Leu344=) c.495G>T (p.Leu165=) c.774G>T (p.Leu258=) c.-4294966474G>T c.-4294966195G>T c.696G>T (p.Leu232=) | dbSNP gnomAD v2 |
2 | g.232533961C>A | CA351004892 | CHRND | c.1078C>A (p.His360Asn) c.*260C>A (n.*260C>A) c.*719C>A (n.*719C>A) c.1033C>A (p.His345Asn) c.496C>A (p.His166Asn) c.775C>A (p.His259Asn) c.-4294966473C>A c.-4294966194C>A c.697C>A (p.His233Asn) | |
2 | g.232533961C>G | CA351004895 | CHRND | c.1078C>G (p.His360Asp) c.*260C>G (n.*260C>G) c.*719C>G (n.*719C>G) c.1033C>G (p.His345Asp) c.496C>G (p.His166Asp) c.775C>G (p.His259Asp) c.-4294966473C>G c.-4294966194C>G c.697C>G (p.His233Asp) | |
2 | g.232533961C>T | CA351004898 | CHRND | c.1078C>T (p.His360Tyr) c.*260C>T (n.*260C>T) c.*719C>T (n.*719C>T) c.1033C>T (p.His345Tyr) c.496C>T (p.His166Tyr) c.775C>T (p.His259Tyr) c.-4294966473C>T c.-4294966194C>T c.697C>T (p.His233Tyr) | COSMIC |
2 | g.232533962A>C | CA351004908 | CHRND | c.1079A>C (p.His360Pro) c.*261A>C (n.*261A>C) c.*720A>C (n.*720A>C) c.1034A>C (p.His345Pro) c.497A>C (p.His166Pro) c.776A>C (p.His259Pro) c.-4294966472A>C c.-4294966193A>C c.698A>C (p.His233Pro) | |
2 | g.232533962A>G | CA351004905 | CHRND | c.1079A>G (p.His360Arg) c.*261A>G (n.*261A>G) c.*720A>G (n.*720A>G) c.1034A>G (p.His345Arg) c.497A>G (p.His166Arg) c.776A>G (p.His259Arg) c.-4294966472A>G c.-4294966193A>G c.698A>G (p.His233Arg) | |
2 | g.232533962A>T | CA351004901 | CHRND | c.1079A>T (p.His360Leu) c.*261A>T (n.*261A>T) c.*720A>T (n.*720A>T) c.1034A>T (p.His345Leu) c.497A>T (p.His166Leu) c.776A>T (p.His259Leu) c.-4294966472A>T c.-4294966193A>T c.698A>T (p.His233Leu) | |
2 | g.232533963C>A | CA351004911 | CHRND | c.1080C>A (p.His360Gln) c.*262C>A (n.*262C>A) c.*721C>A (n.*721C>A) c.1035C>A (p.His345Gln) c.498C>A (p.His166Gln) c.777C>A (p.His259Gln) c.-4294966471C>A c.-4294966192C>A c.699C>A (p.His233Gln) | |
2 | g.232533963C= | CA1335313943 | CHRND | c.1080C= (p.His360=) c.*262C= (n.*262C=) c.*721C= (n.*721C=) c.1035C= (p.His345=) c.498C= (p.His166=) c.777C= (p.His259=) c.-4294966471C= c.-4294966192C= c.699C= (p.His233=) | |
2 | g.232533963C>G | CA351004913 | CHRND | c.1080C>G (p.His360Gln) c.*262C>G (n.*262C>G) c.*721C>G (n.*721C>G) c.1035C>G (p.His345Gln) c.498C>G (p.His166Gln) c.777C>G (p.His259Gln) c.-4294966471C>G c.-4294966192C>G c.699C>G (p.His233Gln) | |
2 | g.232533963C>T | CA431952461 | CHRND | c.1080C>T (p.His360=) c.*262C>T (n.*262C>T) c.*721C>T (n.*721C>T) c.1035C>T (p.His345=) c.498C>T (p.His166=) c.777C>T (p.His259=) c.-4294966471C>T c.-4294966192C>T c.699C>T (p.His233=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.232533964A>C | CA351004916 | CHRND | c.1081A>C (p.Met361Leu) c.*263A>C (n.*263A>C) c.*722A>C (n.*722A>C) c.1036A>C (p.Met346Leu) c.499A>C (p.Met167Leu) c.778A>C (p.Met260Leu) c.-4294966470A>C c.-4294966191A>C c.700A>C (p.Met234Leu) | |
2 | g.232533964A>G | CA351004919 | CHRND | c.1081A>G (p.Met361Val) c.*263A>G (n.*263A>G) c.*722A>G (n.*722A>G) c.1036A>G (p.Met346Val) c.499A>G (p.Met167Val) c.778A>G (p.Met260Val) c.-4294966470A>G c.-4294966191A>G c.700A>G (p.Met234Val) | gnomAD v4 |
2 | g.232533964A>T | CA351004921 | CHRND | c.1081A>T (p.Met361Leu) c.*263A>T (n.*263A>T) c.*722A>T (n.*722A>T) c.1036A>T (p.Met346Leu) c.499A>T (p.Met167Leu) c.778A>T (p.Met260Leu) c.-4294966470A>T c.-4294966191A>T c.700A>T (p.Met234Leu) | |
2 | g.232533965T>A | CA351004924 | CHRND | c.1082T>A (p.Met361Lys) c.*264T>A (n.*264T>A) c.*723T>A (n.*723T>A) c.1037T>A (p.Met346Lys) c.500T>A (p.Met167Lys) c.779T>A (p.Met260Lys) c.-4294966469T>A c.-4294966190T>A c.701T>A (p.Met234Lys) | |
2 | g.232533965T>C | CA66957357 | CHRND | c.1082T>C (p.Met361Thr) c.*264T>C (n.*264T>C) c.*723T>C (n.*723T>C) c.1037T>C (p.Met346Thr) c.500T>C (p.Met167Thr) c.779T>C (p.Met260Thr) c.-4294966469T>C c.-4294966190T>C c.701T>C (p.Met234Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232533965T>G | CA351004925 | CHRND | c.1082T>G (p.Met361Arg) c.*264T>G (n.*264T>G) c.*723T>G (n.*723T>G) c.1037T>G (p.Met346Arg) c.500T>G (p.Met167Arg) c.779T>G (p.Met260Arg) c.-4294966469T>G c.-4294966190T>G c.701T>G (p.Met234Arg) | gnomAD v4 |
2 | g.232533965T= | CA1335313944 | CHRND | c.1082T= (p.Met361=) c.*264T= (n.*264T=) c.*723T= (n.*723T=) c.1037T= (p.Met346=) c.500T= (p.Met167=) c.779T= (p.Met260=) c.-4294966469T= c.-4294966190T= c.701T= (p.Met234=) | |
2 | g.232533966G>A | CA351004928 | CHRND | c.1083G>A (p.Met361Ile) c.*265G>A (n.*265G>A) c.*724G>A (n.*724G>A) c.1038G>A (p.Met346Ile) c.501G>A (p.Met167Ile) c.780G>A (p.Met260Ile) c.-4294966468G>A c.-4294966189G>A c.702G>A (p.Met234Ile) | |
2 | g.232533966G>C | CA2168260 | CHRND | c.1083G>C (p.Met361Ile) c.*265G>C (n.*265G>C) c.*724G>C (n.*724G>C) c.1038G>C (p.Met346Ile) c.501G>C (p.Met167Ile) c.780G>C (p.Met260Ile) c.-4294966468G>C c.-4294966189G>C c.702G>C (p.Met234Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232533966G= | CA1335313945 | CHRND | c.1083G= (p.Met361=) c.*265G= (n.*265G=) c.*724G= (n.*724G=) c.1038G= (p.Met346=) c.501G= (p.Met167=) c.780G= (p.Met260=) c.-4294966468G= c.-4294966189G= c.702G= (p.Met234=) | |
2 | g.232533966G>T | CA351004929 | CHRND | c.1083G>T (p.Met361Ile) c.*265G>T (n.*265G>T) c.*724G>T (n.*724G>T) c.1038G>T (p.Met346Ile) c.501G>T (p.Met167Ile) c.780G>T (p.Met260Ile) c.-4294966468G>T c.-4294966189G>T c.702G>T (p.Met234Ile) | |
2 | g.232533967T>A | CA2168261 | CHRND | c.1084T>A (p.Ser362Thr) c.*266T>A (n.*266T>A) c.*725T>A (n.*725T>A) c.1039T>A (p.Ser347Thr) c.502T>A (p.Ser168Thr) c.781T>A (p.Ser261Thr) c.-4294966467T>A c.-4294966188T>A c.703T>A (p.Ser235Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.232533967T>C | CA351004930 | CHRND | c.1084T>C (p.Ser362Pro) c.*266T>C (n.*266T>C) c.*725T>C (n.*725T>C) c.1039T>C (p.Ser347Pro) c.502T>C (p.Ser168Pro) c.781T>C (p.Ser261Pro) c.-4294966467T>C c.-4294966188T>C c.703T>C (p.Ser235Pro) | |
2 | g.232533967T>G | CA351004932 | CHRND | c.1084T>G (p.Ser362Ala) c.*266T>G (n.*266T>G) c.*725T>G (n.*725T>G) c.1039T>G (p.Ser347Ala) c.502T>G (p.Ser168Ala) c.781T>G (p.Ser261Ala) c.-4294966467T>G c.-4294966188T>G c.703T>G (p.Ser235Ala) | |
2 | g.232533967T= | CA1335313946 | CHRND | c.1084T= (p.Ser362=) c.*266T= (n.*266T=) c.*725T= (n.*725T=) c.1039T= (p.Ser347=) c.502T= (p.Ser168=) c.781T= (p.Ser261=) c.-4294966467T= c.-4294966188T= c.703T= (p.Ser235=) | |
2 | g.232533968C>A | CA351004939 | CHRND | c.1085C>A (p.Ser362Tyr) c.*267C>A (n.*267C>A) c.*726C>A (n.*726C>A) c.1040C>A (p.Ser347Tyr) c.503C>A (p.Ser168Tyr) c.782C>A (p.Ser261Tyr) c.-4294966466C>A c.-4294966187C>A c.704C>A (p.Ser235Tyr) | |
2 | g.232533968C= | CA1335313947 | CHRND | c.1085C= (p.Ser362=) c.*267C= (n.*267C=) c.*726C= (n.*726C=) c.1040C= (p.Ser347=) c.503C= (p.Ser168=) c.782C= (p.Ser261=) c.-4294966466C= c.-4294966187C= c.704C= (p.Ser235=) | |
2 | g.232533968C>G | CA66957373 | CHRND | c.1085C>G (p.Ser362Cys) c.*267C>G (n.*267C>G) c.*726C>G (n.*726C>G) c.1040C>G (p.Ser347Cys) c.503C>G (p.Ser168Cys) c.782C>G (p.Ser261Cys) c.-4294966466C>G c.-4294966187C>G c.704C>G (p.Ser235Cys) | ClinVar dbSNP |
2 | g.232533968C>T | CA351004935 | CHRND | c.1085C>T (p.Ser362Phe) c.*267C>T (n.*267C>T) c.*726C>T (n.*726C>T) c.1040C>T (p.Ser347Phe) c.503C>T (p.Ser168Phe) c.782C>T (p.Ser261Phe) c.-4294966466C>T c.-4294966187C>T c.704C>T (p.Ser235Phe) | |
2 | g.232533969C>A | CA431952468 | CHRND | c.1086C>A (p.Ser362=) c.*268C>A (n.*268C>A) c.*727C>A (n.*727C>A) c.1041C>A (p.Ser347=) c.504C>A (p.Ser168=) c.783C>A (p.Ser261=) c.-4294966465C>A c.-4294966186C>A c.705C>A (p.Ser235=) | |
2 | g.232533969C= | CA1335313948 | CHRND | c.1086C= (p.Ser362=) c.*268C= (n.*268C=) c.*727C= (n.*727C=) c.1041C= (p.Ser347=) c.504C= (p.Ser168=) c.783C= (p.Ser261=) c.-4294966465C= c.-4294966186C= c.705C= (p.Ser235=) | |
2 | g.232533969C>G | CA431952467 | CHRND | c.1086C>G (p.Ser362=) c.*268C>G (n.*268C>G) c.*727C>G (n.*727C>G) c.1041C>G (p.Ser347=) c.504C>G (p.Ser168=) c.783C>G (p.Ser261=) c.-4294966465C>G c.-4294966186C>G c.705C>G (p.Ser235=) | |
2 | g.232533969C>T | CA431952466 | CHRND | c.1086C>T (p.Ser362=) c.*268C>T (n.*268C>T) c.*727C>T (n.*727C>T) c.1041C>T (p.Ser347=) c.504C>T (p.Ser168=) c.783C>T (p.Ser261=) c.-4294966465C>T c.-4294966186C>T c.705C>T (p.Ser235=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.232533970C>A | CA351004941 | CHRND | c.1087C>A (p.Arg363Ser) c.*269C>A (n.*269C>A) c.*728C>A (n.*728C>A) c.1042C>A (p.Arg348Ser) c.505C>A (p.Arg169Ser) c.784C>A (p.Arg262Ser) c.-4294966464C>A c.-4294966185C>A c.706C>A (p.Arg236Ser) | |
2 | g.232533970C= | CA1335313949 | CHRND | c.1087C= (p.Arg363=) c.*269C= (n.*269C=) c.*728C= (n.*728C=) c.1042C= (p.Arg348=) c.505C= (p.Arg169=) c.784C= (p.Arg262=) c.-4294966464C= c.-4294966185C= c.706C= (p.Arg236=) | |
2 | g.232533970C>G | CA351004943 | CHRND | c.1087C>G (p.Arg363Gly) c.*269C>G (n.*269C>G) c.*728C>G (n.*728C>G) c.1042C>G (p.Arg348Gly) c.505C>G (p.Arg169Gly) c.784C>G (p.Arg262Gly) c.-4294966464C>G c.-4294966185C>G c.706C>G (p.Arg236Gly) | |
2 | g.232533970C>T | CA351004946 | CHRND | c.1087C>T (p.Arg363Cys) c.*269C>T (n.*269C>T) c.*728C>T (n.*728C>T) c.1042C>T (p.Arg348Cys) c.505C>T (p.Arg169Cys) c.784C>T (p.Arg262Cys) c.-4294966464C>T c.-4294966185C>T c.706C>T (p.Arg236Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232533971G>A | CA2168262 | CHRND | c.1088G>A (p.Arg363His) c.*270G>A (n.*270G>A) c.*729G>A (n.*729G>A) c.1043G>A (p.Arg348His) c.506G>A (p.Arg169His) c.785G>A (p.Arg262His) c.-4294966463G>A c.-4294966184G>A c.707G>A (p.Arg236His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.232533971G>C | CA351004950 | CHRND | c.1088G>C (p.Arg363Pro) c.*270G>C (n.*270G>C) c.*729G>C (n.*729G>C) c.1043G>C (p.Arg348Pro) c.506G>C (p.Arg169Pro) c.785G>C (p.Arg262Pro) c.-4294966463G>C c.-4294966184G>C c.707G>C (p.Arg236Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.232533971G= | CA1335313950 | CHRND | c.1088G= (p.Arg363=) c.*270G= (n.*270G=) c.*729G= (n.*729G=) c.1043G= (p.Arg348=) c.506G= (p.Arg169=) c.785G= (p.Arg262=) c.-4294966463G= c.-4294966184G= c.707G= (p.Arg236=) | |
2 | g.232533971G>T | CA351004951 | CHRND | c.1088G>T (p.Arg363Leu) c.*270G>T (n.*270G>T) c.*729G>T (n.*729G>T) c.1043G>T (p.Arg348Leu) c.506G>T (p.Arg169Leu) c.785G>T (p.Arg262Leu) c.-4294966463G>T c.-4294966184G>T c.707G>T (p.Arg236Leu) | gnomAD v4 |
2 | g.232533972C>A | CA431952472 | CHRND | c.1089C>A (p.Arg363=) c.*271C>A (n.*271C>A) c.*730C>A (n.*730C>A) c.1044C>A (p.Arg348=) c.507C>A (p.Arg169=) c.786C>A (p.Arg262=) c.-4294966462C>A c.-4294966183C>A c.708C>A (p.Arg236=) | |
2 | g.232533972C>G | CA431952471 | CHRND | c.1089C>G (p.Arg363=) c.*271C>G (n.*271C>G) c.*730C>G (n.*730C>G) c.1044C>G (p.Arg348=) c.507C>G (p.Arg169=) c.786C>G (p.Arg262=) c.-4294966462C>G c.-4294966183C>G c.708C>G (p.Arg236=) | |
2 | g.232533972C>T | CA431952470 | CHRND | c.1089C>T (p.Arg363=) c.*271C>T (n.*271C>T) c.*730C>T (n.*730C>T) c.1044C>T (p.Arg348=) c.507C>T (p.Arg169=) c.786C>T (p.Arg262=) c.-4294966462C>T c.-4294966183C>T c.708C>T (p.Arg236=) | |
2 | g.232533973C>A | CA351004955 | CHRND | c.1090C>A (p.Pro364Thr) c.*272C>A (n.*272C>A) c.*731C>A (n.*731C>A) c.1045C>A (p.Pro349Thr) c.508C>A (p.Pro170Thr) c.787C>A (p.Pro263Thr) c.-4294966461C>A c.-4294966182C>A c.709C>A (p.Pro237Thr) | |
2 | g.232533973C= | CA1335313951 | CHRND | c.1090C= (p.Pro364=) c.*272C= (n.*272C=) c.*731C= (n.*731C=) c.1045C= (p.Pro349=) c.508C= (p.Pro170=) c.787C= (p.Pro263=) c.-4294966461C= c.-4294966182C= c.709C= (p.Pro237=) | |
2 | g.232533973C>G | CA351004957 | CHRND | c.1090C>G (p.Pro364Ala) c.*272C>G (n.*272C>G) c.*731C>G (n.*731C>G) c.1045C>G (p.Pro349Ala) c.508C>G (p.Pro170Ala) c.787C>G (p.Pro263Ala) c.-4294966461C>G c.-4294966182C>G c.709C>G (p.Pro237Ala) | |
2 | g.232533973C>T | CA351004959 | CHRND | c.1090C>T (p.Pro364Ser) c.*272C>T (n.*272C>T) c.*731C>T (n.*731C>T) c.1045C>T (p.Pro349Ser) c.508C>T (p.Pro170Ser) c.787C>T (p.Pro263Ser) c.-4294966461C>T c.-4294966182C>T c.709C>T (p.Pro237Ser) | dbSNP |
2 | g.232533974C>A | CA351004963 | CHRND | c.1091C>A (p.Pro364Gln) c.*273C>A (n.*273C>A) c.*732C>A (n.*732C>A) c.1046C>A (p.Pro349Gln) c.509C>A (p.Pro170Gln) c.788C>A (p.Pro263Gln) c.-4294966460C>A c.-4294966181C>A c.710C>A (p.Pro237Gln) | |
2 | g.232533974C>G | CA351004965 | CHRND | c.1091C>G (p.Pro364Arg) c.*273C>G (n.*273C>G) c.*732C>G (n.*732C>G) c.1046C>G (p.Pro349Arg) c.509C>G (p.Pro170Arg) c.788C>G (p.Pro263Arg) c.-4294966460C>G c.-4294966181C>G c.710C>G (p.Pro237Arg) | |
2 | g.232533974C>T | CA351004967 | CHRND | c.1091C>T (p.Pro364Leu) c.*273C>T (n.*273C>T) c.*732C>T (n.*732C>T) c.1046C>T (p.Pro349Leu) c.509C>T (p.Pro170Leu) c.788C>T (p.Pro263Leu) c.-4294966460C>T c.-4294966181C>T c.710C>T (p.Pro237Leu) | gnomAD v4 |
2 | g.232533975A>C | CA431952475 | CHRND | c.1092A>C (p.Pro364=) c.*274A>C (n.*274A>C) c.*733A>C (n.*733A>C) c.1047A>C (p.Pro349=) c.510A>C (p.Pro170=) c.789A>C (p.Pro263=) c.-4294966459A>C c.-4294966180A>C c.711A>C (p.Pro237=) | |
2 | g.232533975A>G | CA431952478 | CHRND | c.1092A>G (p.Pro364=) c.*274A>G (n.*274A>G) c.*733A>G (n.*733A>G) c.1047A>G (p.Pro349=) c.510A>G (p.Pro170=) c.789A>G (p.Pro263=) c.-4294966459A>G c.-4294966180A>G c.711A>G (p.Pro237=) | gnomAD v4 |
2 | g.232533975A>T | CA431952476 | CHRND | c.1092A>T (p.Pro364=) c.*274A>T (n.*274A>T) c.*733A>T (n.*733A>T) c.1047A>T (p.Pro349=) c.510A>T (p.Pro170=) c.789A>T (p.Pro263=) c.-4294966459A>T c.-4294966180A>T c.711A>T (p.Pro237=) | |
2 | g.232533976G>A | CA351004974 | CHRND | c.1093G>A (p.Ala365Thr) c.*275G>A (n.*275G>A) c.*734G>A (n.*734G>A) c.1048G>A (p.Ala350Thr) c.511G>A (p.Ala171Thr) c.790G>A (p.Ala264Thr) c.-4294966458G>A c.-4294966179G>A c.712G>A (p.Ala238Thr) | |
2 | g.232533976G>C | CA351004972 | CHRND | c.1093G>C (p.Ala365Pro) c.*275G>C (n.*275G>C) c.*734G>C (n.*734G>C) c.1048G>C (p.Ala350Pro) c.511G>C (p.Ala171Pro) c.790G>C (p.Ala264Pro) c.-4294966458G>C c.-4294966179G>C c.712G>C (p.Ala238Pro) | |
2 | g.232533976G>T | CA351004970 | CHRND | c.1093G>T (p.Ala365Ser) c.*275G>T (n.*275G>T) c.*734G>T (n.*734G>T) c.1048G>T (p.Ala350Ser) c.511G>T (p.Ala171Ser) c.790G>T (p.Ala264Ser) c.-4294966458G>T c.-4294966179G>T c.712G>T (p.Ala238Ser) | |
2 | g.232533977C>A | CA351004977 | CHRND | c.1094C>A (p.Ala365Glu) c.*276C>A (n.*276C>A) c.*735C>A (n.*735C>A) c.1049C>A (p.Ala350Glu) c.512C>A (p.Ala171Glu) c.791C>A (p.Ala264Glu) c.-4294966457C>A c.-4294966178C>A c.713C>A (p.Ala238Glu) | |
2 | g.232533977C>G | CA351004979 | CHRND | c.1094C>G (p.Ala365Gly) c.*276C>G (n.*276C>G) c.*735C>G (n.*735C>G) c.1049C>G (p.Ala350Gly) c.512C>G (p.Ala171Gly) c.791C>G (p.Ala264Gly) c.-4294966457C>G c.-4294966178C>G c.713C>G (p.Ala238Gly) | gnomAD v4 |
2 | g.232533977C>T | CA351004980 | CHRND | c.1094C>T (p.Ala365Val) c.*276C>T (n.*276C>T) c.*735C>T (n.*735C>T) c.1049C>T (p.Ala350Val) c.512C>T (p.Ala171Val) c.791C>T (p.Ala264Val) c.-4294966457C>T c.-4294966178C>T c.713C>T (p.Ala238Val) | |
2 | g.232533977_232533978insCC | CA2663623220 | CHRND | c.1094_1095insCC (p.Glu366GlnfsTer?) c.*276_*277insCC (n.*276_*277insCC) c.*735_*736insCC (n.*735_*736insCC) c.1049_1050insCC (p.Glu351GlnfsTer?) c.512_513insCC (p.Glu172GlnfsTer?) c.791_792insCC (p.Glu265GlnfsTer?) c.-4294966457_-4294966456insCC c.-4294966178_-4294966177insCC c.713_714insCC (p.Glu239GlnfsTer?) | gnomAD v4 |
2 | g.232533977_232533978del | CA645519419 | CHRND | c.1094_1095del (p.Ala365GlyfsTer?) c.*276_*277del (n.*276_*277del) c.*735_*736del (n.*735_*736del) c.1049_1050del (p.Ala350GlyfsTer?) c.512_513del (p.Ala171GlyfsTer?) c.791_792del (p.Ala264GlyfsTer?) c.-4294966457_-4294966456del c.-4294966178_-4294966177del c.713_714del (p.Ala238GlyfsTer?) | COSMIC |
2 | g.232533978A>C | CA431952481 | CHRND | c.1095A>C (p.Ala365=) c.*277A>C (n.*277A>C) c.*736A>C (n.*736A>C) c.1050A>C (p.Ala350=) c.513A>C (p.Ala171=) c.792A>C (p.Ala264=) c.-4294966456A>C c.-4294966177A>C c.714A>C (p.Ala238=) | |
2 | g.232533978A>G | CA431952482 | CHRND | c.1095A>G (p.Ala365=) c.*277A>G (n.*277A>G) c.*736A>G (n.*736A>G) c.1050A>G (p.Ala350=) c.513A>G (p.Ala171=) c.792A>G (p.Ala264=) c.-4294966456A>G c.-4294966177A>G c.714A>G (p.Ala238=) | |
2 | g.232533978A>T | CA431952483 | CHRND | c.1095A>T (p.Ala365=) c.*277A>T (n.*277A>T) c.*736A>T (n.*736A>T) c.1050A>T (p.Ala350=) c.513A>T (p.Ala171=) c.792A>T (p.Ala264=) c.-4294966456A>T c.-4294966177A>T c.714A>T (p.Ala238=) | |
2 | g.232533979G>A | CA2168263 | CHRND | c.1096G>A (p.Glu366Lys) c.*278G>A (n.*278G>A) c.*737G>A (n.*737G>A) c.1051G>A (p.Glu351Lys) c.514G>A (p.Glu172Lys) c.793G>A (p.Glu265Lys) c.-4294966455G>A c.-4294966176G>A c.715G>A (p.Glu239Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.232533979G>C | CA351004986 | CHRND | c.1096G>C (p.Glu366Gln) c.*278G>C (n.*278G>C) c.*737G>C (n.*737G>C) c.1051G>C (p.Glu351Gln) c.514G>C (p.Glu172Gln) c.793G>C (p.Glu265Gln) c.-4294966455G>C c.-4294966176G>C c.715G>C (p.Glu239Gln) | |
2 | g.232533979G= | CA1335313952 | CHRND | c.1096G= (p.Glu366=) c.*278G= (n.*278G=) c.*737G= (n.*737G=) c.1051G= (p.Glu351=) c.514G= (p.Glu172=) c.793G= (p.Glu265=) c.-4294966455G= c.-4294966176G= c.715G= (p.Glu239=) | |
2 | g.232533979G>T | CA351004989 | CHRND | c.1096G>T (p.Glu366Ter) c.*278G>T (n.*278G>T) c.*737G>T (n.*737G>T) c.1051G>T (p.Glu351Ter) c.514G>T (p.Glu172Ter) c.793G>T (p.Glu265Ter) c.-4294966455G>T c.-4294966176G>T c.715G>T (p.Glu239Ter) | |
2 | g.232533980A>C | CA351004992 | CHRND | c.1097A>C (p.Glu366Ala) c.*279A>C (n.*279A>C) c.*738A>C (n.*738A>C) c.1052A>C (p.Glu351Ala) c.515A>C (p.Glu172Ala) c.794A>C (p.Glu265Ala) c.-4294966454A>C c.-4294966175A>C c.716A>C (p.Glu239Ala) | |
2 | g.232533980A>G | CA351004994 | CHRND | c.1097A>G (p.Glu366Gly) c.*279A>G (n.*279A>G) c.*738A>G (n.*738A>G) c.1052A>G (p.Glu351Gly) c.515A>G (p.Glu172Gly) c.794A>G (p.Glu265Gly) c.-4294966454A>G c.-4294966175A>G c.716A>G (p.Glu239Gly) | |
2 | g.232533980A>T | CA351004996 | CHRND | c.1097A>T (p.Glu366Val) c.*279A>T (n.*279A>T) c.*738A>T (n.*738A>T) c.1052A>T (p.Glu351Val) c.515A>T (p.Glu172Val) c.794A>T (p.Glu265Val) c.-4294966454A>T c.-4294966175A>T c.716A>T (p.Glu239Val) | |
2 | g.232533981G>A | CA2168265 | CHRND | c.1098G>A (p.Glu366=) c.*280G>A (n.*280G>A) c.*739G>A (n.*739G>A) c.1053G>A (p.Glu351=) c.516G>A (p.Glu172=) c.795G>A (p.Glu265=) c.-4294966453G>A c.-4294966174G>A c.717G>A (p.Glu239=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.232533981G>C | CA2168264 | CHRND | c.1098G>C (p.Glu366Asp) c.*280G>C (n.*280G>C) c.*739G>C (n.*739G>C) c.1053G>C (p.Glu351Asp) c.516G>C (p.Glu172Asp) c.795G>C (p.Glu265Asp) c.-4294966453G>C c.-4294966174G>C c.717G>C (p.Glu239Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232533981G= | CA1335313953 | CHRND | c.1098G= (p.Glu366=) c.*280G= (n.*280G=) c.*739G= (n.*739G=) c.1053G= (p.Glu351=) c.516G= (p.Glu172=) c.795G= (p.Glu265=) c.-4294966453G= c.-4294966174G= c.717G= (p.Glu239=) | |
2 | g.232533981G>T | CA351005001 | CHRND | c.1098G>T (p.Glu366Asp) c.*280G>T (n.*280G>T) c.*739G>T (n.*739G>T) c.1053G>T (p.Glu351Asp) c.516G>T (p.Glu172Asp) c.795G>T (p.Glu265Asp) c.-4294966453G>T c.-4294966174G>T c.717G>T (p.Glu239Asp) | |
2 | g.232533982G>A | CA66957403 | CHRND | c.1099G>A (p.Asp367Asn) c.*281G>A (n.*281G>A) c.*740G>A (n.*740G>A) c.1054G>A (p.Asp352Asn) c.517G>A (p.Asp173Asn) c.796G>A (p.Asp266Asn) c.-4294966452G>A c.-4294966173G>A c.718G>A (p.Asp240Asn) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.232533982G>C | CA351005008 | CHRND | c.1099G>C (p.Asp367His) c.*281G>C (n.*281G>C) c.*740G>C (n.*740G>C) c.1054G>C (p.Asp352His) c.517G>C (p.Asp173His) c.796G>C (p.Asp266His) c.-4294966452G>C c.-4294966173G>C c.718G>C (p.Asp240His) | |
2 | g.232533982G= | CA1335313954 | CHRND | c.1099G= (p.Asp367=) c.*281G= (n.*281G=) c.*740G= (n.*740G=) c.1054G= (p.Asp352=) c.517G= (p.Asp173=) c.796G= (p.Asp266=) c.-4294966452G= c.-4294966173G= c.718G= (p.Asp240=) | |
2 | g.232533982G>T | CA351005004 | CHRND | c.1099G>T (p.Asp367Tyr) c.*281G>T (n.*281G>T) c.*740G>T (n.*740G>T) c.1054G>T (p.Asp352Tyr) c.517G>T (p.Asp173Tyr) c.796G>T (p.Asp266Tyr) c.-4294966452G>T c.-4294966173G>T c.718G>T (p.Asp240Tyr) | |
2 | g.232533983A= | CA1335313955 | CHRND | c.1100A= (p.Asp367=) c.*282A= (n.*282A=) c.*741A= (n.*741A=) c.1055A= (p.Asp352=) c.518A= (p.Asp173=) c.797A= (p.Asp266=) c.-4294966451A= c.-4294966172A= c.719A= (p.Asp240=) | |
2 | g.232533983A>C | CA351005011 | CHRND | c.1100A>C (p.Asp367Ala) c.*282A>C (n.*282A>C) c.*741A>C (n.*741A>C) c.1055A>C (p.Asp352Ala) c.518A>C (p.Asp173Ala) c.797A>C (p.Asp266Ala) c.-4294966451A>C c.-4294966172A>C c.719A>C (p.Asp240Ala) | |
2 | g.232533983A>G | CA2168266 | CHRND | c.1100A>G (p.Asp367Gly) c.*282A>G (n.*282A>G) c.*741A>G (n.*741A>G) c.1055A>G (p.Asp352Gly) c.518A>G (p.Asp173Gly) c.797A>G (p.Asp266Gly) c.-4294966451A>G c.-4294966172A>G c.719A>G (p.Asp240Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.232533983A>T | CA351005014 | CHRND | c.1100A>T (p.Asp367Val) c.*282A>T (n.*282A>T) c.*741A>T (n.*741A>T) c.1055A>T (p.Asp352Val) c.518A>T (p.Asp173Val) c.797A>T (p.Asp266Val) c.-4294966451A>T c.-4294966172A>T c.719A>T (p.Asp240Val) | |
2 | g.232533984T>A | CA351005017 | CHRND | c.1101T>A (p.Asp367Glu) c.*283T>A (n.*283T>A) c.*742T>A (n.*742T>A) c.1056T>A (p.Asp352Glu) c.519T>A (p.Asp173Glu) c.798T>A (p.Asp266Glu) c.-4294966450T>A c.-4294966171T>A c.720T>A (p.Asp240Glu) | |
2 | g.232533984T>C | CA2168267 | CHRND | c.1101T>C (p.Asp367=) c.*283T>C (n.*283T>C) c.*742T>C (n.*742T>C) c.1056T>C (p.Asp352=) c.519T>C (p.Asp173=) c.798T>C (p.Asp266=) c.-4294966450T>C c.-4294966171T>C c.720T>C (p.Asp240=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232533984T>G | CA351005021 | CHRND | c.1101T>G (p.Asp367Glu) c.*283T>G (n.*283T>G) c.*742T>G (n.*742T>G) c.1056T>G (p.Asp352Glu) c.519T>G (p.Asp173Glu) c.798T>G (p.Asp266Glu) c.-4294966450T>G c.-4294966171T>G c.720T>G (p.Asp240Glu) | |
2 | g.232533984T= | CA1335313956 | CHRND | c.1101T= (p.Asp367=) c.*283T= (n.*283T=) c.*742T= (n.*742T=) c.1056T= (p.Asp352=) c.519T= (p.Asp173=) c.798T= (p.Asp266=) c.-4294966450T= c.-4294966171T= c.720T= (p.Asp240=) | |
2 | g.232533985G>A | CA351005025 | CHRND | c.1102G>A (p.Gly368Arg) c.*284G>A (n.*284G>A) c.*743G>A (n.*743G>A) c.1057G>A (p.Gly353Arg) c.520G>A (p.Gly174Arg) c.799G>A (p.Gly267Arg) c.-4294966449G>A c.-4294966170G>A c.721G>A (p.Gly241Arg) | |
2 | g.232533985G>C | CA351005031 | CHRND | c.1102G>C (p.Gly368Arg) c.*284G>C (n.*284G>C) c.*743G>C (n.*743G>C) c.1057G>C (p.Gly353Arg) c.520G>C (p.Gly174Arg) c.799G>C (p.Gly267Arg) c.-4294966449G>C c.-4294966170G>C c.721G>C (p.Gly241Arg) | |
2 | g.232533985G>T | CA351005028 | CHRND | c.1102G>T (p.Gly368Ter) c.*284G>T (n.*284G>T) c.*743G>T (n.*743G>T) c.1057G>T (p.Gly353Ter) c.520G>T (p.Gly174Ter) c.799G>T (p.Gly267Ter) c.-4294966449G>T c.-4294966170G>T c.721G>T (p.Gly241Ter) | |
2 | g.232533986G>A | CA66957416 | CHRND | c.1103G>A (p.Gly368Glu) c.*285G>A (n.*285G>A) c.*744G>A (n.*744G>A) c.1058G>A (p.Gly353Glu) c.521G>A (p.Gly174Glu) c.800G>A (p.Gly267Glu) c.-4294966448G>A c.-4294966169G>A c.722G>A (p.Gly241Glu) | dbSNP |
2 | g.232533986G>C | CA351005035 | CHRND | c.1103G>C (p.Gly368Ala) c.*285G>C (n.*285G>C) c.*744G>C (n.*744G>C) c.1058G>C (p.Gly353Ala) c.521G>C (p.Gly174Ala) c.800G>C (p.Gly267Ala) c.-4294966448G>C c.-4294966169G>C c.722G>C (p.Gly241Ala) | |
2 | g.232533986G= | CA1335313957 | CHRND | c.1103G= (p.Gly368=) c.*285G= (n.*285G=) c.*744G= (n.*744G=) c.1058G= (p.Gly353=) c.521G= (p.Gly174=) c.800G= (p.Gly267=) c.-4294966448G= c.-4294966169G= c.722G= (p.Gly241=) | |
2 | g.232533986G>T | CA351005037 | CHRND | c.1103G>T (p.Gly368Val) c.*285G>T (n.*285G>T) c.*744G>T (n.*744G>T) c.1058G>T (p.Gly353Val) c.521G>T (p.Gly174Val) c.800G>T (p.Gly267Val) c.-4294966448G>T c.-4294966169G>T c.722G>T (p.Gly241Val) | |
2 | g.232533987A= | CA1335313958 | CHRND | c.1104A= (p.Gly368=) c.*286A= (n.*286A=) c.*745A= (n.*745A=) c.1059A= (p.Gly353=) c.522A= (p.Gly174=) c.801A= (p.Gly267=) c.-4294966447A= c.-4294966168A= c.723A= (p.Gly241=) | |
2 | g.232533987A>C | CA431952488 | CHRND | c.1104A>C (p.Gly368=) c.*286A>C (n.*286A>C) c.*745A>C (n.*745A>C) c.1059A>C (p.Gly353=) c.522A>C (p.Gly174=) c.801A>C (p.Gly267=) c.-4294966447A>C c.-4294966168A>C c.723A>C (p.Gly241=) | dbSNP |
2 | g.232533987A>G | CA239147 | CHRND | c.1104A>G (p.Gly368=) c.*286A>G (n.*286A>G) c.*745A>G (n.*745A>G) c.1059A>G (p.Gly353=) c.522A>G (p.Gly174=) c.801A>G (p.Gly267=) c.-4294966447A>G c.-4294966168A>G c.723A>G (p.Gly241=) | ClinVar dbSNP |
2 | g.232533987A>T | CA431952489 | CHRND | c.1104A>T (p.Gly368=) c.*286A>T (n.*286A>T) c.*745A>T (n.*745A>T) c.1059A>T (p.Gly353=) c.522A>T (p.Gly174=) c.801A>T (p.Gly267=) c.-4294966447A>T c.-4294966168A>T c.723A>T (p.Gly241=) | dbSNP gnomAD v4 |
2 | g.232533987_232533988delinsAC | CA1335313959 | CHRND | c.1104_1105delinsAC (p.Gly368=) c.*286_*287delinsAC (n.*286_*287delinsAC) c.*745_*746delinsAC (n.*745_*746delinsAC) c.1059_1060delinsAC (p.Gly353=) c.522_523delinsAC (p.Gly174=) c.801_802delinsAC (p.Gly267=) c.-4294966447_-4294966446delinsAC c.-4294966168_-4294966167delinsAC c.723_724delinsAC (p.Gly241=) | |
2 | g.232533988C>A | CA351005038 | CHRND | c.1105C>A (p.Pro369Thr) c.*287C>A (n.*287C>A) c.*746C>A (n.*746C>A) c.1060C>A (p.Pro354Thr) c.523C>A (p.Pro175Thr) c.802C>A (p.Pro268Thr) c.-4294966446C>A c.-4294966167C>A c.724C>A (p.Pro242Thr) | |
2 | g.232533988C= | CA1335313960 | CHRND | c.1105C= (p.Pro369=) c.*287C= (n.*287C=) c.*746C= (n.*746C=) c.1060C= (p.Pro354=) c.523C= (p.Pro175=) c.802C= (p.Pro268=) c.-4294966446C= c.-4294966167C= c.724C= (p.Pro242=) | |
2 | g.232533988C>G | CA351005039 | CHRND | c.1105C>G (p.Pro369Ala) c.*287C>G (n.*287C>G) c.*746C>G (n.*746C>G) c.1060C>G (p.Pro354Ala) c.523C>G (p.Pro175Ala) c.802C>G (p.Pro268Ala) c.-4294966446C>G c.-4294966167C>G c.724C>G (p.Pro242Ala) | |
2 | g.232533988C>T | CA200681 | CHRND | c.1105C>T (p.Pro369Ser) c.*287C>T (n.*287C>T) c.*746C>T (n.*746C>T) c.1060C>T (p.Pro354Ser) c.523C>T (p.Pro175Ser) c.802C>T (p.Pro268Ser) c.-4294966446C>T c.-4294966167C>T c.724C>T (p.Pro242Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232533990del | CA540309812 | CHRND | c.1107del (p.Ser370AlafsTer?) c.*289del (n.*289del) c.*748del (n.*748del) c.1062del (p.Ser355AlafsTer?) c.525del (p.Ser176AlafsTer?) c.804del (p.Ser269AlafsTer?) c.-4294966444del c.-4294966165del c.726del (p.Ser243AlafsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.232533989C>A | CA351005040 | CHRND | c.1106C>A (p.Pro369His) c.*288C>A (n.*288C>A) c.*747C>A (n.*747C>A) c.1061C>A (p.Pro354His) c.524C>A (p.Pro175His) c.803C>A (p.Pro268His) c.-4294966445C>A c.-4294966166C>A c.725C>A (p.Pro242His) | |
2 | g.232533989C= | CA1335313961 | CHRND | c.1106C= (p.Pro369=) c.*288C= (n.*288C=) c.*747C= (n.*747C=) c.1061C= (p.Pro354=) c.524C= (p.Pro175=) c.803C= (p.Pro268=) c.-4294966445C= c.-4294966166C= c.725C= (p.Pro242=) | |
2 | g.232533989C>G | CA351005042 | CHRND | c.1106C>G (p.Pro369Arg) c.*288C>G (n.*288C>G) c.*747C>G (n.*747C>G) c.1061C>G (p.Pro354Arg) c.524C>G (p.Pro175Arg) c.803C>G (p.Pro268Arg) c.-4294966445C>G c.-4294966166C>G c.725C>G (p.Pro242Arg) | ClinVar dbSNP |
2 | g.232533989C>T | CA351005041 | CHRND | c.1106C>T (p.Pro369Leu) c.*288C>T (n.*288C>T) c.*747C>T (n.*747C>T) c.1061C>T (p.Pro354Leu) c.524C>T (p.Pro175Leu) c.803C>T (p.Pro268Leu) c.-4294966445C>T c.-4294966166C>T c.725C>T (p.Pro242Leu) | |
2 | g.232533990C>A | CA431952491 | CHRND | c.1107C>A (p.Pro369=) c.*289C>A (n.*289C>A) c.*748C>A (n.*748C>A) c.1062C>A (p.Pro354=) c.525C>A (p.Pro175=) c.804C>A (p.Pro268=) c.-4294966444C>A c.-4294966165C>A c.726C>A (p.Pro242=) | |
2 | g.232533990C= | CA1335313962 | CHRND | c.1107C= (p.Pro369=) c.*289C= (n.*289C=) c.*748C= (n.*748C=) c.1062C= (p.Pro354=) c.525C= (p.Pro175=) c.804C= (p.Pro268=) c.-4294966444C= c.-4294966165C= c.726C= (p.Pro242=) | |
2 | g.232533990C>G | CA431952492 | CHRND | c.1107C>G (p.Pro369=) c.*289C>G (n.*289C>G) c.*748C>G (n.*748C>G) c.1062C>G (p.Pro354=) c.525C>G (p.Pro175=) c.804C>G (p.Pro268=) c.-4294966444C>G c.-4294966165C>G c.726C>G (p.Pro242=) | |
2 | g.232533990C>T | CA2168268 | CHRND | c.1107C>T (p.Pro369=) c.*289C>T (n.*289C>T) c.*748C>T (n.*748C>T) c.1062C>T (p.Pro354=) c.525C>T (p.Pro175=) c.804C>T (p.Pro268=) c.-4294966444C>T c.-4294966165C>T c.726C>T (p.Pro242=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.232533991A>C | CA351005044 | CHRND | c.1108A>C (p.Ser370Arg) c.*290A>C (n.*290A>C) c.*749A>C (n.*749A>C) c.1063A>C (p.Ser355Arg) c.526A>C (p.Ser176Arg) c.805A>C (p.Ser269Arg) c.-4294966443A>C c.-4294966164A>C c.727A>C (p.Ser243Arg) | |
2 | g.232533991A>G | CA351005043 | CHRND | c.1108A>G (p.Ser370Gly) c.*290A>G (n.*290A>G) c.*749A>G (n.*749A>G) c.1063A>G (p.Ser355Gly) c.526A>G (p.Ser176Gly) c.805A>G (p.Ser269Gly) c.-4294966443A>G c.-4294966164A>G c.727A>G (p.Ser243Gly) | |
2 | g.232533991A>T | CA351005045 | CHRND | c.1108A>T (p.Ser370Cys) c.*290A>T (n.*290A>T) c.*749A>T (n.*749A>T) c.1063A>T (p.Ser355Cys) c.526A>T (p.Ser176Cys) c.805A>T (p.Ser269Cys) c.-4294966443A>T c.-4294966164A>T c.727A>T (p.Ser243Cys) | |
2 | g.232533992G>A | CA351005046 | CHRND | c.1109G>A (p.Ser370Asn) c.*291G>A (n.*291G>A) c.*750G>A (n.*750G>A) c.1064G>A (p.Ser355Asn) c.527G>A (p.Ser176Asn) c.806G>A (p.Ser269Asn) c.-4294966442G>A c.-4294966163G>A c.728G>A (p.Ser243Asn) | |
2 | g.232533992G>C | CA351005048 | CHRND | c.1109G>C (p.Ser370Thr) c.*291G>C (n.*291G>C) c.*750G>C (n.*750G>C) c.1064G>C (p.Ser355Thr) c.527G>C (p.Ser176Thr) c.806G>C (p.Ser269Thr) c.-4294966442G>C c.-4294966163G>C c.728G>C (p.Ser243Thr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.232533992G= | CA1335313963 | CHRND | c.1109G= (p.Ser370=) c.*291G= (n.*291G=) c.*750G= (n.*750G=) c.1064G= (p.Ser355=) c.527G= (p.Ser176=) c.806G= (p.Ser269=) c.-4294966442G= c.-4294966163G= c.728G= (p.Ser243=) | |
2 | g.232533992G>T | CA351005047 | CHRND | c.1109G>T (p.Ser370Ile) c.*291G>T (n.*291G>T) c.*750G>T (n.*750G>T) c.1064G>T (p.Ser355Ile) c.527G>T (p.Ser176Ile) c.806G>T (p.Ser269Ile) c.-4294966442G>T c.-4294966163G>T c.728G>T (p.Ser243Ile) | |
2 | g.232533993C>A | CA351005049 | CHRND | c.1110C>A (p.Ser370Arg) c.*292C>A (n.*292C>A) c.*751C>A (n.*751C>A) c.1065C>A (p.Ser355Arg) c.528C>A (p.Ser176Arg) c.807C>A (p.Ser269Arg) c.-4294966441C>A c.-4294966162C>A c.729C>A (p.Ser243Arg) | |
2 | g.232533993C>G | CA351005050 | CHRND | c.1110C>G (p.Ser370Arg) c.*292C>G (n.*292C>G) c.*751C>G (n.*751C>G) c.1065C>G (p.Ser355Arg) c.528C>G (p.Ser176Arg) c.807C>G (p.Ser269Arg) c.-4294966441C>G c.-4294966162C>G c.729C>G (p.Ser243Arg) | |
2 | g.232533993C>T | CA431952494 | CHRND | c.1110C>T (p.Ser370=) c.*292C>T (n.*292C>T) c.*751C>T (n.*751C>T) c.1065C>T (p.Ser355=) c.528C>T (p.Ser176=) c.807C>T (p.Ser269=) c.-4294966441C>T c.-4294966162C>T c.729C>T (p.Ser243=) | |
2 | g.232533994C>A | CA351005051 | CHRND | c.1111C>A (p.Pro371Thr) c.*293C>A (n.*293C>A) c.*752C>A (n.*752C>A) c.1066C>A (p.Pro356Thr) c.529C>A (p.Pro177Thr) c.808C>A (p.Pro270Thr) c.-4294966440C>A c.-4294966161C>A c.730C>A (p.Pro244Thr) | |
2 | g.232533994C>G | CA351005052 | CHRND | c.1111C>G (p.Pro371Ala) c.*293C>G (n.*293C>G) c.*752C>G (n.*752C>G) c.1066C>G (p.Pro356Ala) c.529C>G (p.Pro177Ala) c.808C>G (p.Pro270Ala) c.-4294966440C>G c.-4294966161C>G c.730C>G (p.Pro244Ala) | |
2 | g.232533994C>T | CA351005053 | CHRND | c.1111C>T (p.Pro371Ser) c.*293C>T (n.*293C>T) c.*752C>T (n.*752C>T) c.1066C>T (p.Pro356Ser) c.529C>T (p.Pro177Ser) c.808C>T (p.Pro270Ser) c.-4294966440C>T c.-4294966161C>T c.730C>T (p.Pro244Ser) | |
2 | g.232533995C>A | CA351005056 | CHRND | c.1112C>A (p.Pro371His) c.*294C>A (n.*294C>A) c.*753C>A (n.*753C>A) c.1067C>A (p.Pro356His) c.530C>A (p.Pro177His) c.809C>A (p.Pro270His) c.-4294966439C>A c.-4294966160C>A c.731C>A (p.Pro244His) | |
2 | g.232533995C>G | CA351005055 | CHRND | c.1112C>G (p.Pro371Arg) c.*294C>G (n.*294C>G) c.*753C>G (n.*753C>G) c.1067C>G (p.Pro356Arg) c.530C>G (p.Pro177Arg) c.809C>G (p.Pro270Arg) c.-4294966439C>G c.-4294966160C>G c.731C>G (p.Pro244Arg) | |
2 | g.232533995C>T | CA351005054 | CHRND | c.1112C>T (p.Pro371Leu) c.*294C>T (n.*294C>T) c.*753C>T (n.*753C>T) c.1067C>T (p.Pro356Leu) c.530C>T (p.Pro177Leu) c.809C>T (p.Pro270Leu) c.-4294966439C>T c.-4294966160C>T c.731C>T (p.Pro244Leu) | |
2 | g.232533996T>A | CA431952495 | CHRND | c.1113T>A (p.Pro371=) c.*295T>A (n.*295T>A) c.*754T>A (n.*754T>A) c.1068T>A (p.Pro356=) c.531T>A (p.Pro177=) c.810T>A (p.Pro270=) c.-4294966438T>A c.-4294966159T>A c.732T>A (p.Pro244=) | |
2 | g.232533996T>C | CA431952497 | CHRND | c.1113T>C (p.Pro371=) c.*295T>C (n.*295T>C) c.*754T>C (n.*754T>C) c.1068T>C (p.Pro356=) c.531T>C (p.Pro177=) c.810T>C (p.Pro270=) c.-4294966438T>C c.-4294966159T>C c.732T>C (p.Pro244=) | |
2 | g.232533996T>G | CA431952496 | CHRND | c.1113T>G (p.Pro371=) c.*295T>G (n.*295T>G) c.*754T>G (n.*754T>G) c.1068T>G (p.Pro356=) c.531T>G (p.Pro177=) c.810T>G (p.Pro270=) c.-4294966438T>G c.-4294966159T>G c.732T>G (p.Pro244=) | |
2 | g.232533997G>A | CA351005057 | CHRND | c.1114G>A (p.Gly372Arg) c.*296G>A (n.*296G>A) c.*755G>A (n.*755G>A) c.1069G>A (p.Gly357Arg) c.532G>A (p.Gly178Arg) c.811G>A (p.Gly271Arg) c.-4294966437G>A c.-4294966158G>A c.733G>A (p.Gly245Arg) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.232533997G>C | CA351005058 | CHRND | c.1114G>C (p.Gly372Arg) c.*296G>C (n.*296G>C) c.*755G>C (n.*755G>C) c.1069G>C (p.Gly357Arg) c.532G>C (p.Gly178Arg) c.811G>C (p.Gly271Arg) c.-4294966437G>C c.-4294966158G>C c.733G>C (p.Gly245Arg) | |
2 | g.232533997G= | CA1335313964 | CHRND | c.1114G= (p.Gly372=) c.*296G= (n.*296G=) c.*755G= (n.*755G=) c.1069G= (p.Gly357=) c.532G= (p.Gly178=) c.811G= (p.Gly271=) c.-4294966437G= c.-4294966158G= c.733G= (p.Gly245=) | |
2 | g.232533997G>T | CA351005059 | CHRND | c.1114G>T (p.Gly372Trp) c.*296G>T (n.*296G>T) c.*755G>T (n.*755G>T) c.1069G>T (p.Gly357Trp) c.532G>T (p.Gly178Trp) c.811G>T (p.Gly271Trp) c.-4294966437G>T c.-4294966158G>T c.733G>T (p.Gly245Trp) | |
2 | g.232533998G>A | CA351005060 | CHRND | c.1115G>A (p.Gly372Glu) c.*297G>A (n.*297G>A) c.*756G>A (n.*756G>A) c.1070G>A (p.Gly357Glu) c.533G>A (p.Gly178Glu) c.812G>A (p.Gly271Glu) c.-4294966436G>A c.-4294966157G>A c.734G>A (p.Gly245Glu) | gnomAD v4 |
2 | g.232533998G>C | CA351005061 | CHRND | c.1115G>C (p.Gly372Ala) c.*297G>C (n.*297G>C) c.*756G>C (n.*756G>C) c.1070G>C (p.Gly357Ala) c.533G>C (p.Gly178Ala) c.812G>C (p.Gly271Ala) c.-4294966436G>C c.-4294966157G>C c.734G>C (p.Gly245Ala) | gnomAD v4 |
2 | g.232533998G>T | CA351005062 | CHRND | c.1115G>T (p.Gly372Val) c.*297G>T (n.*297G>T) c.*756G>T (n.*756G>T) c.1070G>T (p.Gly357Val) c.533G>T (p.Gly178Val) c.812G>T (p.Gly271Val) c.-4294966436G>T c.-4294966157G>T c.734G>T (p.Gly245Val) | gnomAD v4 |
2 | g.232533999G>A | CA431952500 | CHRND | c.1116G>A (p.Gly372=) c.*298G>A (n.*298G>A) c.*757G>A (n.*757G>A) c.1071G>A (p.Gly357=) c.534G>A (p.Gly178=) c.813G>A (p.Gly271=) c.-4294966435G>A c.-4294966156G>A c.735G>A (p.Gly245=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.232533999G>C | CA431952501 | CHRND | c.1116G>C (p.Gly372=) c.*298G>C (n.*298G>C) c.*757G>C (n.*757G>C) c.1071G>C (p.Gly357=) c.534G>C (p.Gly178=) c.813G>C (p.Gly271=) c.-4294966435G>C c.-4294966156G>C c.735G>C (p.Gly245=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.232533999G= | CA1335313965 | CHRND | c.1116G= (p.Gly372=) c.*298G= (n.*298G=) c.*757G= (n.*757G=) c.1071G= (p.Gly357=) c.534G= (p.Gly178=) c.813G= (p.Gly271=) c.-4294966435G= c.-4294966156G= c.735G= (p.Gly245=) | |
2 | g.232533999G>T | CA431952502 | CHRND | c.1116G>T (p.Gly372=) c.*298G>T (n.*298G>T) c.*757G>T (n.*757G>T) c.1071G>T (p.Gly357=) c.534G>T (p.Gly178=) c.813G>T (p.Gly271=) c.-4294966435G>T c.-4294966156G>T c.735G>T (p.Gly245=) | |
2 | g.232534000G>A | CA351005063 | CHRND | c.1117G>A (p.Ala373Thr) c.*299G>A (n.*299G>A) c.*758G>A (n.*758G>A) c.1072G>A (p.Ala358Thr) c.535G>A (p.Ala179Thr) c.814G>A (p.Ala272Thr) c.-4294966434G>A c.-4294966155G>A c.736G>A (p.Ala246Thr) | |
2 | g.232534000G>C | CA351005065 | CHRND | c.1117G>C (p.Ala373Pro) c.*299G>C (n.*299G>C) c.*758G>C (n.*758G>C) c.1072G>C (p.Ala358Pro) c.535G>C (p.Ala179Pro) c.814G>C (p.Ala272Pro) c.-4294966434G>C c.-4294966155G>C c.736G>C (p.Ala246Pro) | |
2 | g.232534000G>T | CA351005064 | CHRND | c.1117G>T (p.Ala373Ser) c.*299G>T (n.*299G>T) c.*758G>T (n.*758G>T) c.1072G>T (p.Ala358Ser) c.535G>T (p.Ala179Ser) c.814G>T (p.Ala272Ser) c.-4294966434G>T c.-4294966155G>T c.736G>T (p.Ala246Ser) | |
2 | g.232534001C>A | CA351005066 | CHRND | c.1118C>A (p.Ala373Asp) c.*300C>A (n.*300C>A) c.*759C>A (n.*759C>A) c.1073C>A (p.Ala358Asp) c.536C>A (p.Ala179Asp) c.815C>A (p.Ala272Asp) c.-4294966433C>A c.-4294966154C>A c.737C>A (p.Ala246Asp) | |
2 | g.232534001C= | CA1335313966 | CHRND | c.1118C= (p.Ala373=) c.*300C= (n.*300C=) c.*759C= (n.*759C=) c.1073C= (p.Ala358=) c.536C= (p.Ala179=) c.815C= (p.Ala272=) c.-4294966433C= c.-4294966154C= c.737C= (p.Ala246=) | |
2 | g.232534001C>G | CA351005067 | CHRND | c.1118C>G (p.Ala373Gly) c.*300C>G (n.*300C>G) c.*759C>G (n.*759C>G) c.1073C>G (p.Ala358Gly) c.536C>G (p.Ala179Gly) c.815C>G (p.Ala272Gly) c.-4294966433C>G c.-4294966154C>G c.737C>G (p.Ala246Gly) | |
2 | g.232534001C>T | CA351005068 | CHRND | c.1118C>T (p.Ala373Val) c.*300C>T (n.*300C>T) c.*759C>T (n.*759C>T) c.1073C>T (p.Ala358Val) c.536C>T (p.Ala179Val) c.815C>T (p.Ala272Val) c.-4294966433C>T c.-4294966154C>T c.737C>T (p.Ala246Val) | dbSNP |
2 | g.232534002C>A | CA431952504 | CHRND | c.1119C>A (p.Ala373=) c.*301C>A (n.*301C>A) c.*760C>A (n.*760C>A) c.1074C>A (p.Ala358=) c.537C>A (p.Ala179=) c.816C>A (p.Ala272=) c.-4294966432C>A c.-4294966153C>A c.738C>A (p.Ala246=) | |
2 | g.232534002C>G | CA431952505 | CHRND | c.1119C>G (p.Ala373=) c.*301C>G (n.*301C>G) c.*760C>G (n.*760C>G) c.1074C>G (p.Ala358=) c.537C>G (p.Ala179=) c.816C>G (p.Ala272=) c.-4294966432C>G c.-4294966153C>G c.738C>G (p.Ala246=) | |
2 | g.232534002C>T | CA431952506 | CHRND | c.1119C>T (p.Ala373=) c.*301C>T (n.*301C>T) c.*760C>T (n.*760C>T) c.1074C>T (p.Ala358=) c.537C>T (p.Ala179=) c.816C>T (p.Ala272=) c.-4294966432C>T c.-4294966153C>T c.738C>T (p.Ala246=) | |
2 | g.232534003C>A | CA351005069 | CHRND | c.1120C>A (p.Leu374Met) c.*302C>A (n.*302C>A) c.*761C>A (n.*761C>A) c.1075C>A (p.Leu359Met) c.538C>A (p.Leu180Met) c.817C>A (p.Leu273Met) c.-4294966431C>A c.-4294966152C>A c.739C>A (p.Leu247Met) | dbSNP gnomAD v4 |
2 | g.232534003C>G | CA351005070 | CHRND | c.1120C>G (p.Leu374Val) c.*302C>G (n.*302C>G) c.*761C>G (n.*761C>G) c.1075C>G (p.Leu359Val) c.538C>G (p.Leu180Val) c.817C>G (p.Leu273Val) c.-4294966431C>G c.-4294966152C>G c.739C>G (p.Leu247Val) | |
2 | g.232534003C>T | CA431952507 | CHRND | c.1120C>T (p.Leu374=) c.*302C>T (n.*302C>T) c.*761C>T (n.*761C>T) c.1075C>T (p.Leu359=) c.538C>T (p.Leu180=) c.817C>T (p.Leu273=) c.-4294966431C>T c.-4294966152C>T c.739C>T (p.Leu247=) | |
2 | g.232534004T>A | CA351005071 | CHRND | c.1121T>A (p.Leu374Gln) c.*303T>A (n.*303T>A) c.*762T>A (n.*762T>A) c.1076T>A (p.Leu359Gln) c.539T>A (p.Leu180Gln) c.818T>A (p.Leu273Gln) c.-4294966430T>A c.-4294966151T>A c.740T>A (p.Leu247Gln) | |
2 | g.232534004T>C | CA351005072 | CHRND | c.1121T>C (p.Leu374Pro) c.*303T>C (n.*303T>C) c.*762T>C (n.*762T>C) c.1076T>C (p.Leu359Pro) c.539T>C (p.Leu180Pro) c.818T>C (p.Leu273Pro) c.-4294966430T>C c.-4294966151T>C c.740T>C (p.Leu247Pro) | dbSNP |
2 | g.232534004T>G | CA351005073 | CHRND | c.1121T>G (p.Leu374Arg) c.*303T>G (n.*303T>G) c.*762T>G (n.*762T>G) c.1076T>G (p.Leu359Arg) c.539T>G (p.Leu180Arg) c.818T>G (p.Leu273Arg) c.-4294966430T>G c.-4294966151T>G c.740T>G (p.Leu247Arg) | |
2 | g.232534005G>A | CA431952509 | CHRND | c.1122G>A (p.Leu374=) c.*304G>A (n.*304G>A) c.*763G>A (n.*763G>A) c.1077G>A (p.Leu359=) c.540G>A (p.Leu180=) c.819G>A (p.Leu273=) c.-4294966429G>A c.-4294966150G>A c.741G>A (p.Leu247=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232534005G>C | CA431952510 | CHRND | c.1122G>C (p.Leu374=) c.*304G>C (n.*304G>C) c.*763G>C (n.*763G>C) c.1077G>C (p.Leu359=) c.540G>C (p.Leu180=) c.819G>C (p.Leu273=) c.-4294966429G>C c.-4294966150G>C c.741G>C (p.Leu247=) | dbSNP |
2 | g.232534005G= | CA1335313967 | CHRND | c.1122G= (p.Leu374=) c.*304G= (n.*304G=) c.*763G= (n.*763G=) c.1077G= (p.Leu359=) c.540G= (p.Leu180=) c.819G= (p.Leu273=) c.-4294966429G= c.-4294966150G= c.741G= (p.Leu247=) | |
2 | g.232534005G>T | CA431952511 | CHRND | c.1122G>T (p.Leu374=) c.*304G>T (n.*304G>T) c.*763G>T (n.*763G>T) c.1077G>T (p.Leu359=) c.540G>T (p.Leu180=) c.819G>T (p.Leu273=) c.-4294966429G>T c.-4294966150G>T c.741G>T (p.Leu247=) | ClinVar dbSNP |
2 | g.232534006G>A | CA351005074 | CHRND | c.1123G>A (p.Val375Met) c.*305G>A (n.*305G>A) c.*764G>A (n.*764G>A) c.1078G>A (p.Val360Met) c.541G>A (p.Val181Met) c.820G>A (p.Val274Met) c.-4294966428G>A c.-4294966149G>A c.742G>A (p.Val248Met) | dbSNP gnomAD v2 |
2 | g.232534006G>C | CA351005075 | CHRND | c.1123G>C (p.Val375Leu) c.*305G>C (n.*305G>C) c.*764G>C (n.*764G>C) c.1078G>C (p.Val360Leu) c.541G>C (p.Val181Leu) c.820G>C (p.Val274Leu) c.-4294966428G>C c.-4294966149G>C c.742G>C (p.Val248Leu) | |
2 | g.232534006G= | CA1335313968 | CHRND | c.1123G= (p.Val375=) c.*305G= (n.*305G=) c.*764G= (n.*764G=) c.1078G= (p.Val360=) c.541G= (p.Val181=) c.820G= (p.Val274=) c.-4294966428G= c.-4294966149G= c.742G= (p.Val248=) | |
2 | g.232534006G>T | CA2168269 | CHRND | c.1123G>T (p.Val375Leu) c.*305G>T (n.*305G>T) c.*764G>T (n.*764G>T) c.1078G>T (p.Val360Leu) c.541G>T (p.Val181Leu) c.820G>T (p.Val274Leu) c.-4294966428G>T c.-4294966149G>T c.742G>T (p.Val248Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232534007T>A | CA351005076 | CHRND | c.1124T>A (p.Val375Glu) c.*306T>A (n.*306T>A) c.*765T>A (n.*765T>A) c.1079T>A (p.Val360Glu) c.542T>A (p.Val181Glu) c.821T>A (p.Val274Glu) c.-4294966427T>A c.-4294966148T>A c.743T>A (p.Val248Glu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.232534007T>C | CA351005078 | CHRND | c.1124T>C (p.Val375Ala) c.*306T>C (n.*306T>C) c.*765T>C (n.*765T>C) c.1079T>C (p.Val360Ala) c.542T>C (p.Val181Ala) c.821T>C (p.Val274Ala) c.-4294966427T>C c.-4294966148T>C c.743T>C (p.Val248Ala) | dbSNP COSMIC |
2 | g.232534007T>G | CA351005077 | CHRND | c.1124T>G (p.Val375Gly) c.*306T>G (n.*306T>G) c.*765T>G (n.*765T>G) c.1079T>G (p.Val360Gly) c.542T>G (p.Val181Gly) c.821T>G (p.Val274Gly) c.-4294966427T>G c.-4294966148T>G c.743T>G (p.Val248Gly) | |
2 | g.232534007T= | CA1335313969 | CHRND | c.1124T= (p.Val375=) c.*306T= (n.*306T=) c.*765T= (n.*765T=) c.1079T= (p.Val360=) c.542T= (p.Val181=) c.821T= (p.Val274=) c.-4294966427T= c.-4294966148T= c.743T= (p.Val248=) | |
2 | g.232534008G>A | CA2168270 | CHRND | c.1125G>A (p.Val375=) c.*307G>A (n.*307G>A) c.*766G>A (n.*766G>A) c.1080G>A (p.Val360=) c.543G>A (p.Val181=) c.822G>A (p.Val274=) c.-4294966426G>A c.-4294966147G>A c.744G>A (p.Val248=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232534008G>C | CA431952512 | CHRND | c.1125G>C (p.Val375=) c.*307G>C (n.*307G>C) c.*766G>C (n.*766G>C) c.1080G>C (p.Val360=) c.543G>C (p.Val181=) c.822G>C (p.Val274=) c.-4294966426G>C c.-4294966147G>C c.744G>C (p.Val248=) | |
2 | g.232534008G= | CA1335313970 | CHRND | c.1125G= (p.Val375=) c.*307G= (n.*307G=) c.*766G= (n.*766G=) c.1080G= (p.Val360=) c.543G= (p.Val181=) c.822G= (p.Val274=) c.-4294966426G= c.-4294966147G= c.744G= (p.Val248=) | |
2 | g.232534008G>T | CA431952513 | CHRND | c.1125G>T (p.Val375=) c.*307G>T (n.*307G>T) c.*766G>T (n.*766G>T) c.1080G>T (p.Val360=) c.543G>T (p.Val181=) c.822G>T (p.Val274=) c.-4294966426G>T c.-4294966147G>T c.744G>T (p.Val248=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232534009C>A | CA431952514 | CHRND | c.1126C>A (p.Arg376=) c.*308C>A (n.*308C>A) c.*767C>A (n.*767C>A) c.1081C>A (p.Arg361=) c.544C>A (p.Arg182=) c.823C>A (p.Arg275=) c.-4294966425C>A c.-4294966146C>A c.745C>A (p.Arg249=) | |
2 | g.232534009C= | CA1335313971 | CHRND | c.1126C= (p.Arg376=) c.*308C= (n.*308C=) c.*767C= (n.*767C=) c.1081C= (p.Arg361=) c.544C= (p.Arg182=) c.823C= (p.Arg275=) c.-4294966425C= c.-4294966146C= c.745C= (p.Arg249=) | |
2 | g.232534009C>G | CA351005079 | CHRND | c.1126C>G (p.Arg376Gly) c.*308C>G (n.*308C>G) c.*767C>G (n.*767C>G) c.1081C>G (p.Arg361Gly) c.544C>G (p.Arg182Gly) c.823C>G (p.Arg275Gly) c.-4294966425C>G c.-4294966146C>G c.745C>G (p.Arg249Gly) | |
2 | g.232534009C>T | CA2168271 | CHRND | c.1126C>T (p.Arg376Trp) c.*308C>T (n.*308C>T) c.*767C>T (n.*767C>T) c.1081C>T (p.Arg361Trp) c.544C>T (p.Arg182Trp) c.823C>T (p.Arg275Trp) c.-4294966425C>T c.-4294966146C>T c.745C>T (p.Arg249Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.232534010G>A | CA2168272 | CHRND | c.1127G>A (p.Arg376Gln) c.*309G>A (n.*309G>A) c.*768G>A (n.*768G>A) c.1082G>A (p.Arg361Gln) c.545G>A (p.Arg182Gln) c.824G>A (p.Arg275Gln) c.-4294966424G>A c.-4294966145G>A c.746G>A (p.Arg249Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232534010G>C | CA2168273 | CHRND | c.1127G>C (p.Arg376Pro) c.*309G>C (n.*309G>C) c.*768G>C (n.*768G>C) c.1082G>C (p.Arg361Pro) c.545G>C (p.Arg182Pro) c.824G>C (p.Arg275Pro) c.-4294966424G>C c.-4294966145G>C c.746G>C (p.Arg249Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.232534010G= | CA1335313972 | CHRND | c.1127G= (p.Arg376=) c.*309G= (n.*309G=) c.*768G= (n.*768G=) c.1082G= (p.Arg361=) c.545G= (p.Arg182=) c.824G= (p.Arg275=) c.-4294966424G= c.-4294966145G= c.746G= (p.Arg249=) | |
2 | g.232534010G>T | CA351005080 | CHRND | c.1127G>T (p.Arg376Leu) c.*309G>T (n.*309G>T) c.*768G>T (n.*768G>T) c.1082G>T (p.Arg361Leu) c.545G>T (p.Arg182Leu) c.824G>T (p.Arg275Leu) c.-4294966424G>T c.-4294966145G>T c.746G>T (p.Arg249Leu) | dbSNP gnomAD v4 |
2 | g.232534014_232534016dup | CA2663623281 | CHRND | c.1131_1133dup (p.Arg377_Ser378insArg) c.*313_*315dup (n.*313_*315dup) c.*772_*774dup (n.*772_*774dup) c.1086_1088dup (p.Arg362_Ser363insArg) c.549_551dup (p.Arg183_Ser184insArg) c.828_830dup (p.Arg276_Ser277insArg) c.-4294966420_-4294966418dup c.-4294966141_-4294966139dup c.750_752dup (p.Arg250_Ser251insArg) | gnomAD v4 |
2 | g.232534011G>A | CA431952515 | CHRND | c.1128G>A (p.Arg376=) c.*310G>A (n.*310G>A) c.*769G>A (n.*769G>A) c.1083G>A (p.Arg361=) c.546G>A (p.Arg182=) c.825G>A (p.Arg275=) c.-4294966423G>A c.-4294966144G>A c.747G>A (p.Arg249=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232534011G>C | CA431952516 | CHRND | c.1128G>C (p.Arg376=) c.*310G>C (n.*310G>C) c.*769G>C (n.*769G>C) c.1083G>C (p.Arg361=) c.546G>C (p.Arg182=) c.825G>C (p.Arg275=) c.-4294966423G>C c.-4294966144G>C c.747G>C (p.Arg249=) | gnomAD v4 |
2 | g.232534011G= | CA1335313973 | CHRND | c.1128G= (p.Arg376=) c.*310G= (n.*310G=) c.*769G= (n.*769G=) c.1083G= (p.Arg361=) c.546G= (p.Arg182=) c.825G= (p.Arg275=) c.-4294966423G= c.-4294966144G= c.747G= (p.Arg249=) | |
2 | g.232534011G>T | CA431952517 | CHRND | c.1128G>T (p.Arg376=) c.*310G>T (n.*310G>T) c.*769G>T (n.*769G>T) c.1083G>T (p.Arg361=) c.546G>T (p.Arg182=) c.825G>T (p.Arg275=) c.-4294966423G>T c.-4294966144G>T c.747G>T (p.Arg249=) | |
2 | g.232534012A>C | CA431952518 | CHRND | c.1129A>C (p.Arg377=) c.*311A>C (n.*311A>C) c.*770A>C (n.*770A>C) c.1084A>C (p.Arg362=) c.547A>C (p.Arg183=) c.826A>C (p.Arg276=) c.-4294966422A>C c.-4294966143A>C c.748A>C (p.Arg250=) | |
2 | g.232534012A>G | CA351005081 | CHRND | c.1129A>G (p.Arg377Gly) c.*311A>G (n.*311A>G) c.*770A>G (n.*770A>G) c.1084A>G (p.Arg362Gly) c.547A>G (p.Arg183Gly) c.826A>G (p.Arg276Gly) c.-4294966422A>G c.-4294966143A>G c.748A>G (p.Arg250Gly) | |
2 | g.232534012A>T | CA351005082 | CHRND | c.1129A>T (p.Arg377Trp) c.*311A>T (n.*311A>T) c.*770A>T (n.*770A>T) c.1084A>T (p.Arg362Trp) c.547A>T (p.Arg183Trp) c.826A>T (p.Arg276Trp) c.-4294966422A>T c.-4294966143A>T c.748A>T (p.Arg250Trp) | |
2 | g.232534013G>A | CA351005083 | CHRND | c.1130G>A (p.Arg377Lys) c.*312G>A (n.*312G>A) c.*771G>A (n.*771G>A) c.1085G>A (p.Arg362Lys) c.548G>A (p.Arg183Lys) c.827G>A (p.Arg276Lys) c.-4294966421G>A c.-4294966142G>A c.749G>A (p.Arg250Lys) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.232534013G>C | CA351005084 | CHRND | c.1130G>C (p.Arg377Thr) c.*312G>C (n.*312G>C) c.*771G>C (n.*771G>C) c.1085G>C (p.Arg362Thr) c.548G>C (p.Arg183Thr) c.827G>C (p.Arg276Thr) c.-4294966421G>C c.-4294966142G>C c.749G>C (p.Arg250Thr) | |
2 | g.232534013G= | CA1335313974 | CHRND | c.1130G= (p.Arg377=) c.*312G= (n.*312G=) c.*771G= (n.*771G=) c.1085G= (p.Arg362=) c.548G= (p.Arg183=) c.827G= (p.Arg276=) c.-4294966421G= c.-4294966142G= c.749G= (p.Arg250=) | |
2 | g.232534013G>T | CA351005085 | CHRND | c.1130G>T (p.Arg377Met) c.*312G>T (n.*312G>T) c.*771G>T (n.*771G>T) c.1085G>T (p.Arg362Met) c.548G>T (p.Arg183Met) c.827G>T (p.Arg276Met) c.-4294966421G>T c.-4294966142G>T c.749G>T (p.Arg250Met) | |
2 | g.232534014G>A | CA2168274 | CHRND | c.1131G>A (p.Arg377=) c.*313G>A (n.*313G>A) c.*772G>A (n.*772G>A) c.1086G>A (p.Arg362=) c.549G>A (p.Arg183=) c.828G>A (p.Arg276=) c.-4294966420G>A c.-4294966141G>A c.750G>A (p.Arg250=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232534014G>C | CA351005086 | CHRND | c.1131G>C (p.Arg377Ser) c.*313G>C (n.*313G>C) c.*772G>C (n.*772G>C) c.1086G>C (p.Arg362Ser) c.549G>C (p.Arg183Ser) c.828G>C (p.Arg276Ser) c.-4294966420G>C c.-4294966141G>C c.750G>C (p.Arg250Ser) | |
2 | g.232534014G= | CA1335313975 | CHRND | c.1131G= (p.Arg377=) c.*313G= (n.*313G=) c.*772G= (n.*772G=) c.1086G= (p.Arg362=) c.549G= (p.Arg183=) c.828G= (p.Arg276=) c.-4294966420G= c.-4294966141G= c.750G= (p.Arg250=) | |
2 | g.232534014G>T | CA351005087 | CHRND | c.1131G>T (p.Arg377Ser) c.*313G>T (n.*313G>T) c.*772G>T (n.*772G>T) c.1086G>T (p.Arg362Ser) c.549G>T (p.Arg183Ser) c.828G>T (p.Arg276Ser) c.-4294966420G>T c.-4294966141G>T c.750G>T (p.Arg250Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.232534015A>C | CA351005088 | CHRND | c.1132A>C (p.Ser378Arg) c.*314A>C (n.*314A>C) c.*773A>C (n.*773A>C) c.1087A>C (p.Ser363Arg) c.550A>C (p.Ser184Arg) c.829A>C (p.Ser277Arg) c.-4294966419A>C c.-4294966140A>C c.751A>C (p.Ser251Arg) | |
2 | g.232534015A>G | CA351005089 | CHRND | c.1132A>G (p.Ser378Gly) c.*314A>G (n.*314A>G) c.*773A>G (n.*773A>G) c.1087A>G (p.Ser363Gly) c.550A>G (p.Ser184Gly) c.829A>G (p.Ser277Gly) c.-4294966419A>G c.-4294966140A>G c.751A>G (p.Ser251Gly) | gnomAD v4 |
2 | g.232534015A>T | CA351005090 | CHRND | c.1132A>T (p.Ser378Cys) c.*314A>T (n.*314A>T) c.*773A>T (n.*773A>T) c.1087A>T (p.Ser363Cys) c.550A>T (p.Ser184Cys) c.829A>T (p.Ser277Cys) c.-4294966419A>T c.-4294966140A>T c.751A>T (p.Ser251Cys) | |
2 | g.232534016G>A | CA351005091 | CHRND | c.1133G>A (p.Ser378Asn) c.*315G>A (n.*315G>A) c.*774G>A (n.*774G>A) c.1088G>A (p.Ser363Asn) c.551G>A (p.Ser184Asn) c.830G>A (p.Ser277Asn) c.-4294966418G>A c.-4294966139G>A c.752G>A (p.Ser251Asn) | gnomAD v4 |
2 | g.232534016G>C | CA351005092 | CHRND | c.1133G>C (p.Ser378Thr) c.*315G>C (n.*315G>C) c.*774G>C (n.*774G>C) c.1088G>C (p.Ser363Thr) c.551G>C (p.Ser184Thr) c.830G>C (p.Ser277Thr) c.-4294966418G>C c.-4294966139G>C c.752G>C (p.Ser251Thr) | |
2 | g.232534016G>T | CA351005093 | CHRND | c.1133G>T (p.Ser378Ile) c.*315G>T (n.*315G>T) c.*774G>T (n.*774G>T) c.1088G>T (p.Ser363Ile) c.551G>T (p.Ser184Ile) c.830G>T (p.Ser277Ile) c.-4294966418G>T c.-4294966139G>T c.752G>T (p.Ser251Ile) | |
2 | g.232534017C>A | CA351005094 | CHRND | c.1134C>A (p.Ser378Arg) c.*316C>A (n.*316C>A) c.*775C>A (n.*775C>A) c.1089C>A (p.Ser363Arg) c.552C>A (p.Ser184Arg) c.831C>A (p.Ser277Arg) c.-4294966417C>A c.-4294966138C>A c.753C>A (p.Ser251Arg) | gnomAD v4 |
2 | g.232534017C>G | CA351005095 | CHRND | c.1134C>G (p.Ser378Arg) c.*316C>G (n.*316C>G) c.*775C>G (n.*775C>G) c.1089C>G (p.Ser363Arg) c.552C>G (p.Ser184Arg) c.831C>G (p.Ser277Arg) c.-4294966417C>G c.-4294966138C>G c.753C>G (p.Ser251Arg) | |
2 | g.232534017C>T | CA431952519 | CHRND | c.1134C>T (p.Ser378=) c.*316C>T (n.*316C>T) c.*775C>T (n.*775C>T) c.1089C>T (p.Ser363=) c.552C>T (p.Ser184=) c.831C>T (p.Ser277=) c.-4294966417C>T c.-4294966138C>T c.753C>T (p.Ser251=) | |
2 | g.232534018A>C | CA351005096 | CHRND | c.1135A>C (p.Ser379Arg) c.*317A>C (n.*317A>C) c.*776A>C (n.*776A>C) c.1090A>C (p.Ser364Arg) c.553A>C (p.Ser185Arg) c.832A>C (p.Ser278Arg) c.-4294966416A>C c.-4294966137A>C c.754A>C (p.Ser252Arg) | |
2 | g.232534018A>G | CA351005097 | CHRND | c.1135A>G (p.Ser379Gly) c.*317A>G (n.*317A>G) c.*776A>G (n.*776A>G) c.1090A>G (p.Ser364Gly) c.553A>G (p.Ser185Gly) c.832A>G (p.Ser278Gly) c.-4294966416A>G c.-4294966137A>G c.754A>G (p.Ser252Gly) | gnomAD v4 |
2 | g.232534018A>T | CA351005098 | CHRND | c.1135A>T (p.Ser379Cys) c.*317A>T (n.*317A>T) c.*776A>T (n.*776A>T) c.1090A>T (p.Ser364Cys) c.553A>T (p.Ser185Cys) c.832A>T (p.Ser278Cys) c.-4294966416A>T c.-4294966137A>T c.754A>T (p.Ser252Cys) | |
2 | g.232534019G>A | CA351005100 | CHRND | c.1136G>A (p.Ser379Asn) c.*318G>A (n.*318G>A) c.*777G>A (n.*777G>A) c.1091G>A (p.Ser364Asn) c.554G>A (p.Ser185Asn) c.833G>A (p.Ser278Asn) c.-4294966415G>A c.-4294966136G>A c.755G>A (p.Ser252Asn) | |
2 | g.232534019G>C | CA351005101 | CHRND | c.1136G>C (p.Ser379Thr) c.*318G>C (n.*318G>C) c.*777G>C (n.*777G>C) c.1091G>C (p.Ser364Thr) c.554G>C (p.Ser185Thr) c.833G>C (p.Ser278Thr) c.-4294966415G>C c.-4294966136G>C c.755G>C (p.Ser252Thr) | |
2 | g.232534019G>T | CA351005099 | CHRND | c.1136G>T (p.Ser379Ile) c.*318G>T (n.*318G>T) c.*777G>T (n.*777G>T) c.1091G>T (p.Ser364Ile) c.554G>T (p.Ser185Ile) c.833G>T (p.Ser278Ile) c.-4294966415G>T c.-4294966136G>T c.755G>T (p.Ser252Ile) | gnomAD v4 |
2 | g.232534020C>A | CA351005103 | CHRND | c.1137C>A (p.Ser379Arg) c.*319C>A (n.*319C>A) c.*778C>A (n.*778C>A) c.1092C>A (p.Ser364Arg) c.555C>A (p.Ser185Arg) c.834C>A (p.Ser278Arg) c.-4294966414C>A c.-4294966135C>A c.756C>A (p.Ser252Arg) | |
2 | g.232534020C>G | CA351005102 | CHRND | c.1137C>G (p.Ser379Arg) c.*319C>G (n.*319C>G) c.*778C>G (n.*778C>G) c.1092C>G (p.Ser364Arg) c.555C>G (p.Ser185Arg) c.834C>G (p.Ser278Arg) c.-4294966414C>G c.-4294966135C>G c.756C>G (p.Ser252Arg) | |
2 | g.232534020C>T | CA431952520 | CHRND | c.1137C>T (p.Ser379=) c.*319C>T (n.*319C>T) c.*778C>T (n.*778C>T) c.1092C>T (p.Ser364=) c.555C>T (p.Ser185=) c.834C>T (p.Ser278=) c.-4294966414C>T c.-4294966135C>T c.756C>T (p.Ser252=) | |
2 | g.232534021T>A | CA351005104 | CHRND | c.1138T>A (p.Ser380Thr) c.*320T>A (n.*320T>A) c.*779T>A (n.*779T>A) c.1093T>A (p.Ser365Thr) c.556T>A (p.Ser186Thr) c.835T>A (p.Ser279Thr) c.-4294966413T>A c.-4294966134T>A c.757T>A (p.Ser253Thr) | |
2 | g.232534021T>C | CA66957476 | CHRND | c.1138T>C (p.Ser380Pro) c.*320T>C (n.*320T>C) c.*779T>C (n.*779T>C) c.1093T>C (p.Ser365Pro) c.556T>C (p.Ser186Pro) c.835T>C (p.Ser279Pro) c.-4294966413T>C c.-4294966134T>C c.757T>C (p.Ser253Pro) | dbSNP |
2 | g.232534021T>G | CA351005105 | CHRND | c.1138T>G (p.Ser380Ala) c.*320T>G (n.*320T>G) c.*779T>G (n.*779T>G) c.1093T>G (p.Ser365Ala) c.556T>G (p.Ser186Ala) c.835T>G (p.Ser279Ala) c.-4294966413T>G c.-4294966134T>G c.757T>G (p.Ser253Ala) | gnomAD v4 |
2 | g.232534021T= | CA1335313976 | CHRND | c.1138T= (p.Ser380=) c.*320T= (n.*320T=) c.*779T= (n.*779T=) c.1093T= (p.Ser365=) c.556T= (p.Ser186=) c.835T= (p.Ser279=) c.-4294966413T= c.-4294966134T= c.757T= (p.Ser253=) | |
2 | g.232534022C>A | CA351005106 | CHRND | c.1139C>A (p.Ser380Tyr) c.*321C>A (n.*321C>A) c.*780C>A (n.*780C>A) c.1094C>A (p.Ser365Tyr) c.557C>A (p.Ser186Tyr) c.836C>A (p.Ser279Tyr) c.-4294966412C>A c.-4294966133C>A c.758C>A (p.Ser253Tyr) | |
2 | g.232534022C>G | CA351005107 | CHRND | c.1139C>G (p.Ser380Cys) c.*321C>G (n.*321C>G) c.*780C>G (n.*780C>G) c.1094C>G (p.Ser365Cys) c.557C>G (p.Ser186Cys) c.836C>G (p.Ser279Cys) c.-4294966412C>G c.-4294966133C>G c.758C>G (p.Ser253Cys) | |
2 | g.232534022C>T | CA351005108 | CHRND | c.1139C>T (p.Ser380Phe) c.*321C>T (n.*321C>T) c.*780C>T (n.*780C>T) c.1094C>T (p.Ser365Phe) c.557C>T (p.Ser186Phe) c.836C>T (p.Ser279Phe) c.-4294966412C>T c.-4294966133C>T c.758C>T (p.Ser253Phe) | gnomAD v4 COSMIC |
2 | g.232534023C>A | CA431952521 | CHRND | c.1140C>A (p.Ser380=) c.*322C>A (n.*322C>A) c.*781C>A (n.*781C>A) c.1095C>A (p.Ser365=) c.558C>A (p.Ser186=) c.837C>A (p.Ser279=) c.-4294966411C>A c.-4294966132C>A c.759C>A (p.Ser253=) | |
2 | g.232534023C>G | CA431952523 | CHRND | c.1140C>G (p.Ser380=) c.*322C>G (n.*322C>G) c.*781C>G (n.*781C>G) c.1095C>G (p.Ser365=) c.558C>G (p.Ser186=) c.837C>G (p.Ser279=) c.-4294966411C>G c.-4294966132C>G c.759C>G (p.Ser253=) | |
2 | g.232534023C>T | CA431952522 | CHRND | c.1140C>T (p.Ser380=) c.*322C>T (n.*322C>T) c.*781C>T (n.*781C>T) c.1095C>T (p.Ser365=) c.558C>T (p.Ser186=) c.837C>T (p.Ser279=) c.-4294966411C>T c.-4294966132C>T c.759C>T (p.Ser253=) | |
2 | g.232534024C>A | CA351005109 | CHRND | c.1141C>A (p.Leu381Met) c.*323C>A (n.*323C>A) c.*782C>A (n.*782C>A) c.1096C>A (p.Leu366Met) c.559C>A (p.Leu187Met) c.838C>A (p.Leu280Met) c.-4294966410C>A c.-4294966131C>A c.760C>A (p.Leu254Met) | |
2 | g.232534024C>G | CA351005110 | CHRND | c.1141C>G (p.Leu381Val) c.*323C>G (n.*323C>G) c.*782C>G (n.*782C>G) c.1096C>G (p.Leu366Val) c.559C>G (p.Leu187Val) c.838C>G (p.Leu280Val) c.-4294966410C>G c.-4294966131C>G c.760C>G (p.Leu254Val) | gnomAD v4 |
2 | g.232534024C>T | CA431952524 | CHRND | c.1141C>T (p.Leu381=) c.*323C>T (n.*323C>T) c.*782C>T (n.*782C>T) c.1096C>T (p.Leu366=) c.559C>T (p.Leu187=) c.838C>T (p.Leu280=) c.-4294966410C>T c.-4294966131C>T c.760C>T (p.Leu254=) | |
2 | g.232534025T>A | CA351005111 | CHRND | c.1142T>A (p.Leu381Gln) c.*324T>A (n.*324T>A) c.*783T>A (n.*783T>A) c.1097T>A (p.Leu366Gln) c.560T>A (p.Leu187Gln) c.839T>A (p.Leu280Gln) c.-4294966409T>A c.-4294966130T>A c.761T>A (p.Leu254Gln) | |
2 | g.232534025T>C | CA351005112 | CHRND | c.1142T>C (p.Leu381Pro) c.*324T>C (n.*324T>C) c.*783T>C (n.*783T>C) c.1097T>C (p.Leu366Pro) c.560T>C (p.Leu187Pro) c.839T>C (p.Leu280Pro) c.-4294966409T>C c.-4294966130T>C c.761T>C (p.Leu254Pro) | dbSNP |
2 | g.232534025T>G | CA351005113 | CHRND | c.1142T>G (p.Leu381Arg) c.*324T>G (n.*324T>G) c.*783T>G (n.*783T>G) c.1097T>G (p.Leu366Arg) c.560T>G (p.Leu187Arg) c.839T>G (p.Leu280Arg) c.-4294966409T>G c.-4294966130T>G c.761T>G (p.Leu254Arg) | gnomAD v4 |
2 | g.232534025T= | CA1335313977 | CHRND | c.1142T= (p.Leu381=) c.*324T= (n.*324T=) c.*783T= (n.*783T=) c.1097T= (p.Leu366=) c.560T= (p.Leu187=) c.839T= (p.Leu280=) c.-4294966409T= c.-4294966130T= c.761T= (p.Leu254=) | |
2 | g.232534026G>A | CA431952525 | CHRND | c.1143G>A (p.Leu381=) c.*325G>A (n.*325G>A) c.*784G>A (n.*784G>A) c.1098G>A (p.Leu366=) c.561G>A (p.Leu187=) c.840G>A (p.Leu280=) c.-4294966408G>A c.-4294966129G>A c.762G>A (p.Leu254=) | |
2 | g.232534026G>C | CA431952526 | CHRND | c.1143G>C (p.Leu381=) c.*325G>C (n.*325G>C) c.*784G>C (n.*784G>C) c.1098G>C (p.Leu366=) c.561G>C (p.Leu187=) c.840G>C (p.Leu280=) c.-4294966408G>C c.-4294966129G>C c.762G>C (p.Leu254=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232534026G= | CA1335313978 | CHRND | c.1143G= (p.Leu381=) c.*325G= (n.*325G=) c.*784G= (n.*784G=) c.1098G= (p.Leu366=) c.561G= (p.Leu187=) c.840G= (p.Leu280=) c.-4294966408G= c.-4294966129G= c.762G= (p.Leu254=) | |
2 | g.232534026G>T | CA431952527 | CHRND | c.1143G>T (p.Leu381=) c.*325G>T (n.*325G>T) c.*784G>T (n.*784G>T) c.1098G>T (p.Leu366=) c.561G>T (p.Leu187=) c.840G>T (p.Leu280=) c.-4294966408G>T c.-4294966129G>T c.762G>T (p.Leu254=) | |
2 | g.232534027G>A | CA351005116 | CHRND | c.1144G>A (p.Gly382Arg) c.*326G>A (n.*326G>A) c.*785G>A (n.*785G>A) c.1099G>A (p.Gly367Arg) c.562G>A (p.Gly188Arg) c.841G>A (p.Gly281Arg) c.-4294966407G>A c.-4294966128G>A c.763G>A (p.Gly255Arg) | |
2 | g.232534027G>C | CA351005114 | CHRND | c.1144G>C (p.Gly382Arg) c.*326G>C (n.*326G>C) c.*785G>C (n.*785G>C) c.1099G>C (p.Gly367Arg) c.562G>C (p.Gly188Arg) c.841G>C (p.Gly281Arg) c.-4294966407G>C c.-4294966128G>C c.763G>C (p.Gly255Arg) | |
2 | g.232534027G>T | CA351005115 | CHRND | c.1144G>T (p.Gly382Ter) c.*326G>T (n.*326G>T) c.*785G>T (n.*785G>T) c.1099G>T (p.Gly367Ter) c.562G>T (p.Gly188Ter) c.841G>T (p.Gly281Ter) c.-4294966407G>T c.-4294966128G>T c.763G>T (p.Gly255Ter) | |
2 | g.232534028G>A | CA351005117 | CHRND | c.1145G>A (p.Gly382Glu) c.*327G>A (n.*327G>A) c.*786G>A (n.*786G>A) c.1100G>A (p.Gly367Glu) c.563G>A (p.Gly188Glu) c.842G>A (p.Gly281Glu) c.-4294966406G>A c.-4294966127G>A c.764G>A (p.Gly255Glu) | |
2 | g.232534028G>C | CA351005118 | CHRND | c.1145G>C (p.Gly382Ala) c.*327G>C (n.*327G>C) c.*786G>C (n.*786G>C) c.1100G>C (p.Gly367Ala) c.563G>C (p.Gly188Ala) c.842G>C (p.Gly281Ala) c.-4294966406G>C c.-4294966127G>C c.764G>C (p.Gly255Ala) | |
2 | g.232534028G>T | CA351005119 | CHRND | c.1145G>T (p.Gly382Val) c.*327G>T (n.*327G>T) c.*786G>T (n.*786G>T) c.1100G>T (p.Gly367Val) c.563G>T (p.Gly188Val) c.842G>T (p.Gly281Val) c.-4294966406G>T c.-4294966127G>T c.764G>T (p.Gly255Val) | |
2 | g.232534029A>C | CA431952528 | CHRND | c.1146A>C (p.Gly382=) c.*328A>C (n.*328A>C) c.*787A>C (n.*787A>C) c.1101A>C (p.Gly367=) c.564A>C (p.Gly188=) c.843A>C (p.Gly281=) c.-4294966405A>C c.-4294966126A>C c.765A>C (p.Gly255=) | |
2 | g.232534029A>G | CA431952529 | CHRND | c.1146A>G (p.Gly382=) c.*328A>G (n.*328A>G) c.*787A>G (n.*787A>G) c.1101A>G (p.Gly367=) c.564A>G (p.Gly188=) c.843A>G (p.Gly281=) c.-4294966405A>G c.-4294966126A>G c.765A>G (p.Gly255=) | gnomAD v4 |
2 | g.232534029A>T | CA431952530 | CHRND | c.1146A>T (p.Gly382=) c.*328A>T (n.*328A>T) c.*787A>T (n.*787A>T) c.1101A>T (p.Gly367=) c.564A>T (p.Gly188=) c.843A>T (p.Gly281=) c.-4294966405A>T c.-4294966126A>T c.765A>T (p.Gly255=) | |
2 | g.232534030T>A | CA351005120 | CHRND | c.1147T>A (p.Tyr383Asn) c.*329T>A (n.*329T>A) c.*788T>A (n.*788T>A) c.1102T>A (p.Tyr368Asn) c.565T>A (p.Tyr189Asn) c.844T>A (p.Tyr282Asn) c.-4294966404T>A c.-4294966125T>A c.766T>A (p.Tyr256Asn) | |
2 | g.232534030T>C | CA351005121 | CHRND | c.1147T>C (p.Tyr383His) c.*329T>C (n.*329T>C) c.*788T>C (n.*788T>C) c.1102T>C (p.Tyr368His) c.565T>C (p.Tyr189His) c.844T>C (p.Tyr282His) c.-4294966404T>C c.-4294966125T>C c.766T>C (p.Tyr256His) | |
2 | g.232534030T>G | CA351005122 | CHRND | c.1147T>G (p.Tyr383Asp) c.*329T>G (n.*329T>G) c.*788T>G (n.*788T>G) c.1102T>G (p.Tyr368Asp) c.565T>G (p.Tyr189Asp) c.844T>G (p.Tyr282Asp) c.-4294966404T>G c.-4294966125T>G c.766T>G (p.Tyr256Asp) | |
2 | g.232534031A>C | CA351005123 | CHRND | c.1148A>C (p.Tyr383Ser) c.*330A>C (n.*330A>C) c.*789A>C (n.*789A>C) c.1103A>C (p.Tyr368Ser) c.566A>C (p.Tyr189Ser) c.845A>C (p.Tyr282Ser) c.-4294966403A>C c.-4294966124A>C c.767A>C (p.Tyr256Ser) | |
2 | g.232534031A>G | CA351005124 | CHRND | c.1148A>G (p.Tyr383Cys) c.*330A>G (n.*330A>G) c.*789A>G (n.*789A>G) c.1103A>G (p.Tyr368Cys) c.566A>G (p.Tyr189Cys) c.845A>G (p.Tyr282Cys) c.-4294966403A>G c.-4294966124A>G c.767A>G (p.Tyr256Cys) | |
2 | g.232534031A>T | CA351005125 | CHRND | c.1148A>T (p.Tyr383Phe) c.*330A>T (n.*330A>T) c.*789A>T (n.*789A>T) c.1103A>T (p.Tyr368Phe) c.566A>T (p.Tyr189Phe) c.845A>T (p.Tyr282Phe) c.-4294966403A>T c.-4294966124A>T c.767A>T (p.Tyr256Phe) | |
2 | g.232534032C>A | CA351005126 | CHRND | c.1149C>A (p.Tyr383Ter) c.*331C>A (n.*331C>A) c.*790C>A (n.*790C>A) c.1104C>A (p.Tyr368Ter) c.567C>A (p.Tyr189Ter) c.846C>A (p.Tyr282Ter) c.-4294966402C>A c.-4294966123C>A c.768C>A (p.Tyr256Ter) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.232534032C= | CA1335313979 | CHRND | c.1149C= (p.Tyr383=) c.*331C= (n.*331C=) c.*790C= (n.*790C=) c.1104C= (p.Tyr368=) c.567C= (p.Tyr189=) c.846C= (p.Tyr282=) c.-4294966402C= c.-4294966123C= c.768C= (p.Tyr256=) | |
2 | g.232534032C>G | CA351005127 | CHRND | c.1149C>G (p.Tyr383Ter) c.*331C>G (n.*331C>G) c.*790C>G (n.*790C>G) c.1104C>G (p.Tyr368Ter) c.567C>G (p.Tyr189Ter) c.846C>G (p.Tyr282Ter) c.-4294966402C>G c.-4294966123C>G c.768C>G (p.Tyr256Ter) | |
2 | g.232534032C>T | CA431952531 | CHRND | c.1149C>T (p.Tyr383=) c.*331C>T (n.*331C>T) c.*790C>T (n.*790C>T) c.1104C>T (p.Tyr368=) c.567C>T (p.Tyr189=) c.846C>T (p.Tyr282=) c.-4294966402C>T c.-4294966123C>T c.768C>T (p.Tyr256=) | gnomAD v4 |
2 | g.232534033A>C | CA351005129 | CHRND | c.1150A>C (p.Ile384Leu) c.*332A>C (n.*332A>C) c.*791A>C (n.*791A>C) c.1105A>C (p.Ile369Leu) c.568A>C (p.Ile190Leu) c.847A>C (p.Ile283Leu) c.-4294966401A>C c.-4294966122A>C c.769A>C (p.Ile257Leu) | gnomAD v4 |
2 | g.232534033A>G | CA351005130 | CHRND | c.1150A>G (p.Ile384Val) c.*332A>G (n.*332A>G) c.*791A>G (n.*791A>G) c.1105A>G (p.Ile369Val) c.568A>G (p.Ile190Val) c.847A>G (p.Ile283Val) c.-4294966401A>G c.-4294966122A>G c.769A>G (p.Ile257Val) | |
2 | g.232534033A>T | CA351005128 | CHRND | c.1150A>T (p.Ile384Phe) c.*332A>T (n.*332A>T) c.*791A>T (n.*791A>T) c.1105A>T (p.Ile369Phe) c.568A>T (p.Ile190Phe) c.847A>T (p.Ile283Phe) c.-4294966401A>T c.-4294966122A>T c.769A>T (p.Ile257Phe) | |
2 | g.232534034T>A | CA2168275 | CHRND | c.1151T>A (p.Ile384Asn) c.*333T>A (n.*333T>A) c.*792T>A (n.*792T>A) c.1106T>A (p.Ile369Asn) c.569T>A (p.Ile190Asn) c.848T>A (p.Ile283Asn) c.-4294966400T>A c.-4294966121T>A c.770T>A (p.Ile257Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.232534034T>C | CA351005131 | CHRND | c.1151T>C (p.Ile384Thr) c.*333T>C (n.*333T>C) c.*792T>C (n.*792T>C) c.1106T>C (p.Ile369Thr) c.569T>C (p.Ile190Thr) c.848T>C (p.Ile283Thr) c.-4294966400T>C c.-4294966121T>C c.770T>C (p.Ile257Thr) | dbSNP |
2 | g.232534034T>G | CA351005132 | CHRND | c.1151T>G (p.Ile384Ser) c.*333T>G (n.*333T>G) c.*792T>G (n.*792T>G) c.1106T>G (p.Ile369Ser) c.569T>G (p.Ile190Ser) c.848T>G (p.Ile283Ser) c.-4294966400T>G c.-4294966121T>G c.770T>G (p.Ile257Ser) | |
2 | g.232534034T= | CA1335313980 | CHRND | c.1151T= (p.Ile384=) c.*333T= (n.*333T=) c.*792T= (n.*792T=) c.1106T= (p.Ile369=) c.569T= (p.Ile190=) c.848T= (p.Ile283=) c.-4294966400T= c.-4294966121T= c.770T= (p.Ile257=) | |
2 | g.232534035C>A | CA431952532 | CHRND | c.1152C>A (p.Ile384=) c.*334C>A (n.*334C>A) c.*793C>A (n.*793C>A) c.1107C>A (p.Ile369=) c.570C>A (p.Ile190=) c.849C>A (p.Ile283=) c.-4294966399C>A c.-4294966120C>A c.771C>A (p.Ile257=) | |
2 | g.232534035C>G | CA351005133 | CHRND | c.1152C>G (p.Ile384Met) c.*334C>G (n.*334C>G) c.*793C>G (n.*793C>G) c.1107C>G (p.Ile369Met) c.570C>G (p.Ile190Met) c.849C>G (p.Ile283Met) c.-4294966399C>G c.-4294966120C>G c.771C>G (p.Ile257Met) | |
2 | g.232534035C>T | CA431952533 | CHRND | c.1152C>T (p.Ile384=) c.*334C>T (n.*334C>T) c.*793C>T (n.*793C>T) c.1107C>T (p.Ile369=) c.570C>T (p.Ile190=) c.849C>T (p.Ile283=) c.-4294966399C>T c.-4294966120C>T c.771C>T (p.Ile257=) | |
2 | g.232534036T>A | CA351005134 | CHRND | c.1153T>A (p.Ser385Thr) c.*335T>A (n.*335T>A) c.*794T>A (n.*794T>A) c.1108T>A (p.Ser370Thr) c.571T>A (p.Ser191Thr) c.850T>A (p.Ser284Thr) c.-4294966398T>A c.-4294966119T>A c.772T>A (p.Ser258Thr) | |
2 | g.232534036T>C | CA351005135 | CHRND | c.1153T>C (p.Ser385Pro) c.*335T>C (n.*335T>C) c.*794T>C (n.*794T>C) c.1108T>C (p.Ser370Pro) c.571T>C (p.Ser191Pro) c.850T>C (p.Ser284Pro) c.-4294966398T>C c.-4294966119T>C c.772T>C (p.Ser258Pro) | |
2 | g.232534036T>G | CA351005136 | CHRND | c.1153T>G (p.Ser385Ala) c.*335T>G (n.*335T>G) c.*794T>G (n.*794T>G) c.1108T>G (p.Ser370Ala) c.571T>G (p.Ser191Ala) c.850T>G (p.Ser284Ala) c.-4294966398T>G c.-4294966119T>G c.772T>G (p.Ser258Ala) |