Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.1985925A= | CA2201967741 | GFER | c.290A= (p.His97=) c.515A= (p.His172=) n.672A= c.318A= (p.Pro106=) | |
16 | g.1985925A>C | CA394304050 | GFER | c.290A>C (p.His97Pro) c.515A>C (p.His172Pro) n.672A>C c.318A>C (p.Pro106=) | dbSNP |
16 | g.1985925A>G | CA394304053 | GFER | c.290A>G (p.His97Arg) c.515A>G (p.His172Arg) n.672A>G c.318A>G (p.Pro106=) | |
16 | g.1985925A>T | CA394304055 | GFER | c.290A>T (p.His97Leu) c.515A>T (p.His172Leu) n.672A>T c.318A>T (p.Pro106=) | |
16 | g.1985926C>A | CA394304056 | GFER | c.291C>A (p.His97Gln) c.516C>A (p.His172Gln) n.673C>A c.319C>A (p.Pro107Thr) | |
16 | g.1985926C= | CA2201967743 | GFER | c.291C= (p.His97=) c.516C= (p.His172=) n.673C= c.319C= (p.Pro107=) | |
16 | g.1985926C>G | CA394304061 | GFER | c.291C>G (p.His97Gln) c.516C>G (p.His172Gln) n.673C>G c.319C>G (p.Pro107Ala) | |
16 | g.1985926C>T | CA7826076 | GFER | c.291C>T (p.His97=) c.516C>T (p.His172=) n.673C>T c.319C>T (p.Pro107Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1985927C>A | CA394304064 | GFER | c.292C>A (p.Leu98Met) c.517C>A (p.Leu173Met) n.674C>A c.320C>A (p.Pro107His) | |
16 | g.1985927C= | CA2201967744 | GFER | c.292C= (p.Leu98=) c.517C= (p.Leu173=) n.674C= c.320C= (p.Pro107=) | |
16 | g.1985927C>G | CA276773501 | GFER | c.292C>G (p.Leu98Val) c.517C>G (p.Leu173Val) n.674C>G c.320C>G (p.Pro107Arg) | dbSNP |
16 | g.1985927C>T | CA394304068 | GFER | c.292C>T (p.Leu98=) c.517C>T (p.Leu173=) n.674C>T c.320C>T (p.Pro107Leu) | |
16 | g.1985928T>A | CA394304072 | GFER | c.293T>A (p.Leu98Gln) c.518T>A (p.Leu173Gln) n.675T>A c.321T>A (p.Pro107=) | COSMIC |
16 | g.1985928T>C | CA394304070 | GFER | c.293T>C (p.Leu98Pro) c.518T>C (p.Leu173Pro) n.675T>C c.321T>C (p.Pro107=) | |
16 | g.1985928T>G | CA394304069 | GFER | c.293T>G (p.Leu98Arg) c.518T>G (p.Leu173Arg) n.675T>G c.321T>G (p.Pro107=) | |
16 | g.1985929G>A | CA394304078 | GFER | c.294G>A (p.Leu98=) c.519G>A (p.Leu173=) n.676G>A c.322G>A (p.Ala108Thr) | gnomAD v4 |
16 | g.1985929G>C | CA394304080 | GFER | c.294G>C (p.Leu98=) c.519G>C (p.Leu173=) n.676G>C c.322G>C (p.Ala108Pro) | dbSNP gnomAD v4 |
16 | g.1985929G= | CA2201967746 | GFER | c.294G= (p.Leu98=) c.519G= (p.Leu173=) n.676G= c.322G= (p.Ala108=) | |
16 | g.1985929G>T | CA394304090 | GFER | c.294G>T (p.Leu98=) c.519G>T (p.Leu173=) n.676G>T c.322G>T (p.Ala108Ser) | |
16 | g.1985930C>A | CA394304093 | GFER | c.295C>A (p.His99Asn) c.520C>A (p.His174Asn) n.677C>A c.323C>A (p.Ala108Glu) | |
16 | g.1985930C= | CA2201967748 | GFER | c.295C= (p.His99=) c.520C= (p.His174=) n.677C= c.323C= (p.Ala108=) | |
16 | g.1985930C>G | CA7826077 | GFER | c.295C>G (p.His99Asp) c.520C>G (p.His174Asp) n.677C>G c.323C>G (p.Ala108Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1985930C>T | CA394304103 | GFER | c.295C>T (p.His99Tyr) c.520C>T (p.His174Tyr) n.677C>T c.323C>T (p.Ala108Val) | gnomAD v4 |
16 | g.1985931A= | CA2201967750 | GFER | c.296A= (p.His99=) c.521A= (p.His174=) n.678A= c.324A= (p.Ala108=) | |
16 | g.1985931A>C | CA394304111 | GFER | c.296A>C (p.His99Pro) c.521A>C (p.His174Pro) n.678A>C c.324A>C (p.Ala108=) | |
16 | g.1985931A>G | CA394304109 | GFER | c.296A>G (p.His99Arg) c.521A>G (p.His174Arg) n.678A>G c.324A>G (p.Ala108=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.1985931A>T | CA394304107 | GFER | c.296A>T (p.His99Leu) c.521A>T (p.His174Leu) n.678A>T c.324A>T (p.Ala108=) | |
16 | g.1985932C>A | CA394304112 | GFER | c.297C>A (p.His99Gln) c.522C>A (p.His174Gln) n.679C>A c.325C>A (p.Gln109Lys) | |
16 | g.1985932C= | CA2201967751 | GFER | c.297C= (p.His99=) c.522C= (p.His174=) n.679C= c.325C= (p.Gln109=) | |
16 | g.1985932C>G | CA394304115 | GFER | c.297C>G (p.His99Gln) c.522C>G (p.His174Gln) n.679C>G c.325C>G (p.Gln109Glu) | |
16 | g.1985932C>T | CA7826078 | GFER | c.297C>T (p.His99=) c.522C>T (p.His174=) n.679C>T c.325C>T (p.Gln109Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1985933A= | CA2201967753 | GFER | c.298A= (p.Asn100=) c.523A= (p.Asn175=) n.680A= c.326A= (p.Gln109=) | |
16 | g.1985933A>C | CA394304121 | GFER | c.298A>C (p.Asn100His) c.523A>C (p.Asn175His) n.680A>C c.326A>C (p.Gln109Pro) | |
16 | g.1985933A>G | CA394304133 | GFER | c.298A>G (p.Asn100Asp) c.523A>G (p.Asn175Asp) n.680A>G c.326A>G (p.Gln109Arg) | dbSNP gnomAD v4 |
16 | g.1985933A>T | CA394304136 | GFER | c.298A>T (p.Asn100Tyr) c.523A>T (p.Asn175Tyr) n.680A>T c.326A>T (p.Gln109Leu) | |
16 | g.1985934A= | CA2201967755 | GFER | c.299A= (p.Asn100=) c.524A= (p.Asn175=) n.681A= c.327A= (p.Gln109=) | |
16 | g.1985934A>C | CA394304138 | GFER | c.299A>C (p.Asn100Thr) c.524A>C (p.Asn175Thr) n.681A>C c.327A>C (p.Gln109His) | |
16 | g.1985934A>G | CA7826079 | GFER | c.299A>G (p.Asn100Ser) c.524A>G (p.Asn175Ser) n.681A>G c.327A>G (p.Gln109=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.1985934A>T | CA394304141 | GFER | c.299A>T (p.Asn100Ile) c.524A>T (p.Asn175Ile) n.681A>T c.327A>T (p.Gln109His) | |
16 | g.1985935T>A | CA394304151 | GFER | c.300T>A (p.Asn100Lys) c.525T>A (p.Asn175Lys) n.682T>A c.328T>A (p.Ter110Arg) | |
16 | g.1985935T>C | CA394304152 | GFER | c.300T>C (p.Asn100=) c.525T>C (p.Asn175=) n.682T>C c.328T>C (p.Ter110Arg) | gnomAD v4 |
16 | g.1985935T>G | CA394304155 | GFER | c.300T>G (p.Asn100Lys) c.525T>G (p.Asn175Lys) n.682T>G c.328T>G (p.Ter110Gly) | |
16 | g.1985936G>A | CA394304158 | GFER | c.301G>A (p.Glu101Lys) c.526G>A (p.Glu176Lys) n.683G>A c.329G>A (p.Ter110=) | |
16 | g.1985936G>C | CA394304159 | GFER | c.301G>C (p.Glu101Gln) c.526G>C (p.Glu176Gln) n.683G>C c.329G>C (p.Ter110Ser) | |
16 | g.1985936G= | CA2201967756 | GFER | c.301G= (p.Glu101=) c.526G= (p.Glu176=) n.683G= c.329G= (p.Ter110=) | |
16 | g.1985936G>T | CA7826080 | GFER | c.301G>T (p.Glu101Ter) c.526G>T (p.Glu176Ter) n.683G>T c.329G>T (p.Ter110Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.1985937A= | CA2201967758 | GFER | c.302A= (p.Glu101=) c.527A= (p.Glu176=) n.684A= c.330A= (p.Ter110=) | |
16 | g.1985937A>C | CA394304166 | GFER | c.302A>C (p.Glu101Ala) c.527A>C (p.Glu176Ala) n.684A>C c.330A>C (p.Ter110Cys) | |
16 | g.1985937A>G | CA394304168 | GFER | c.302A>G (p.Glu101Gly) c.527A>G (p.Glu176Gly) n.684A>G c.330A>G (p.Ter110Trp) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.1985937A>T | CA394304171 | GFER | c.302A>T (p.Glu101Val) c.527A>T (p.Glu176Val) n.684A>T c.330A>T (p.Ter110Cys) | |
16 | g.1985938A= | CA2201967759 | GFER | c.303A= (p.Glu101=) c.528A= (p.Glu176=) n.685A= c.*1A= (n.*1A=) | |
16 | g.1985938A>C | CA276773510 | GFER | c.303A>C (p.Glu101Asp) c.528A>C (p.Glu176Asp) n.685A>C c.*1A>C (n.*1A>C) | dbSNP |
16 | g.1985938A>G | CA492950182 | GFER | c.303A>G (p.Glu101=) c.528A>G (p.Glu176=) n.685A>G c.*1A>G (n.*1A>G) | |
16 | g.1985938A>T | CA394304176 | GFER | c.303A>T (p.Glu101Asp) c.528A>T (p.Glu176Asp) n.685A>T c.*1A>T (n.*1A>T) | |
16 | g.1985939G>A | CA394304183 | GFER | c.304G>A (p.Val102Met) c.529G>A (p.Val177Met) n.686G>A c.*2G>A (n.*2G>A) | dbSNP gnomAD v2 |
16 | g.1985939G>C | CA394304188 | GFER | c.304G>C (p.Val102Leu) c.529G>C (p.Val177Leu) n.686G>C c.*2G>C (n.*2G>C) | dbSNP gnomAD v4 |
16 | g.1985939G= | CA2201967761 | GFER | c.304G= (p.Val102=) c.529G= (p.Val177=) n.686G= c.*2G= (n.*2G=) | |
16 | g.1985939G>T | CA394304184 | GFER | c.304G>T (p.Val102Leu) c.529G>T (p.Val177Leu) n.686G>T c.*2G>T (n.*2G>T) | |
16 | g.1985940T>A | CA394304191 | GFER | c.305T>A (p.Val102Glu) c.530T>A (p.Val177Glu) n.687T>A c.*3T>A (n.*3T>A) | dbSNP gnomAD v4 |
16 | g.1985940T>C | CA394304194 | GFER | c.305T>C (p.Val102Ala) c.530T>C (p.Val177Ala) n.687T>C c.*3T>C (n.*3T>C) | gnomAD v4 |
16 | g.1985940T>G | CA7826081 | GFER | c.305T>G (p.Val102Gly) c.530T>G (p.Val177Gly) n.687T>G c.*3T>G (n.*3T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1985940T= | CA2201967763 | GFER | c.305T= (p.Val102=) c.530T= (p.Val177=) n.687T= c.*3T= (n.*3T=) | |
16 | g.1985941G>A | CA492950189 | GFER | c.306G>A (p.Val102=) c.531G>A (p.Val177=) n.688G>A c.*4G>A (n.*4G>A) | |
16 | g.1985941G>C | CA492950191 | GFER | c.306G>C (p.Val102=) c.531G>C (p.Val177=) n.688G>C c.*4G>C (n.*4G>C) | dbSNP |
16 | g.1985941G= | CA2201967764 | GFER | c.306G= (p.Val102=) c.531G= (p.Val177=) n.688G= c.*4G= (n.*4G=) | |
16 | g.1985941G>T | CA492950190 | GFER | c.306G>T (p.Val102=) c.531G>T (p.Val177=) n.688G>T c.*4G>T (n.*4G>T) | |
16 | g.1985942A>C | CA394304197 | GFER | c.307A>C (p.Asn103His) c.532A>C (p.Asn178His) n.689A>C c.*5A>C (n.*5A>C) | |
16 | g.1985942A>G | CA394304215 | GFER | c.307A>G (p.Asn103Asp) c.532A>G (p.Asn178Asp) n.689A>G c.*5A>G (n.*5A>G) | |
16 | g.1985942A>T | CA394304209 | GFER | c.307A>T (p.Asn103Tyr) c.532A>T (p.Asn178Tyr) n.689A>T c.*5A>T (n.*5A>T) | |
16 | g.1985943A= | CA2201967767 | GFER | c.308A= (p.Asn103=) c.533A= (p.Asn178=) n.690A= c.*6A= (n.*6A=) | |
16 | g.1985943A>C | CA394304219 | GFER | c.308A>C (p.Asn103Thr) c.533A>C (p.Asn178Thr) n.690A>C c.*6A>C (n.*6A>C) | |
16 | g.1985943A>G | CA394304224 | GFER | c.308A>G (p.Asn103Ser) c.533A>G (p.Asn178Ser) n.690A>G c.*6A>G (n.*6A>G) | |
16 | g.1985943A>T | CA394304221 | GFER | c.308A>T (p.Asn103Ile) c.533A>T (p.Asn178Ile) n.690A>T c.*6A>T (n.*6A>T) | |
16 | g.1985943_1985945delinsACC | CA2201967766 | GFER | c.308_310delinsACC (p.Asn103=) c.533_535delinsACC (p.Asn178=) n.690_692delinsACC c.*6_*8delinsACC (n.*6_*8delinsACC) | |
16 | g.1985943_1985944insGGT | CA2201967772 | GFER | c.308_309insGGT (p.Asn103delinsLysVal) c.533_534insGGT (p.Asn178delinsLysVal) n.690_691insGGT c.*6_*7insGGT (n.*6_*7insGGT) | dbSNP |
16 | g.1985944C>A | CA394304229 | GFER | c.309C>A (p.Asn103Lys) c.534C>A (p.Asn178Lys) n.691C>A c.*7C>A (n.*7C>A) | gnomAD v4 |
16 | g.1985944C= | CA2201967771 | GFER | c.309C= (p.Asn103=) c.534C= (p.Asn178=) n.691C= c.*7C= (n.*7C=) | |
16 | g.1985944C>G | CA394304231 | GFER | c.309C>G (p.Asn103Lys) c.534C>G (p.Asn178Lys) n.691C>G c.*7C>G (n.*7C>G) | dbSNP |
16 | g.1985944C>T | CA7826082 | GFER | c.309C>T (p.Asn103=) c.534C>T (p.Asn178=) n.691C>T c.*7C>T (n.*7C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1985944_1985945del | CA919640052 | GFER | c.309_310del (p.Asn103LysfsTer7) c.534_535del (p.Asn178LysfsTer7) n.691_692del c.*7_*8del (n.*7_*8del) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.1985945C>A | CA394304232 | GFER | c.310C>A (p.Arg104Ser) c.535C>A (p.Arg179Ser) n.692C>A c.*8C>A (n.*8C>A) | COSMIC |
16 | g.1985945C= | CA2201967774 | GFER | c.310C= (p.Arg104=) c.535C= (p.Arg179=) n.692C= c.*8C= (n.*8C=) | |
16 | g.1985945C>G | CA394304233 | GFER | c.310C>G (p.Arg104Gly) c.535C>G (p.Arg179Gly) n.692C>G c.*8C>G (n.*8C>G) | dbSNP gnomAD v4 |
16 | g.1985945C>T | CA7826083 | GFER | c.310C>T (p.Arg104Cys) c.535C>T (p.Arg179Cys) n.692C>T c.*8C>T (n.*8C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1985946G>A | CA7826084 | GFER | c.311G>A (p.Arg104His) c.536G>A (p.Arg179His) n.693G>A c.*9G>A (n.*9G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1985946G>C | CA394304239 | GFER | c.311G>C (p.Arg104Pro) c.536G>C (p.Arg179Pro) n.693G>C c.*9G>C (n.*9G>C) | |
16 | g.1985946G= | CA2201967776 | GFER | c.311G= (p.Arg104=) c.536G= (p.Arg179=) n.693G= c.*9G= (n.*9G=) | |
16 | g.1985946G>T | CA394304242 | GFER | c.311G>T (p.Arg104Leu) c.536G>T (p.Arg179Leu) n.693G>T c.*9G>T (n.*9G>T) | |
16 | g.1985946_1985947insGTGGG | CA919640053 | GFER | c.311_312insGTGGG (p.Lys105TrpfsTer?) c.536_537insGTGGG (p.Lys180TrpfsTer?) n.693_694insGTGGG c.*9_*10insGTGGG (n.*9_*10insGTGGG) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.1985947C>A | CA492950198 | GFER | c.312C>A (p.Arg104=) c.537C>A (p.Arg179=) n.694C>A c.*10C>A (n.*10C>A) | |
16 | g.1985947C= | CA2201967778 | GFER | c.312C= (p.Arg104=) c.537C= (p.Arg179=) n.694C= c.*10C= (n.*10C=) | |
16 | g.1985947C>G | CA492950199 | GFER | c.312C>G (p.Arg104=) c.537C>G (p.Arg179=) n.694C>G c.*10C>G (n.*10C>G) | |
16 | g.1985947C>T | CA7826085 | GFER | c.312C>T (p.Arg104=) c.537C>T (p.Arg179=) n.694C>T c.*10C>T (n.*10C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.1985948A= | CA2201967780 | GFER | c.313A= (p.Lys105=) c.538A= (p.Lys180=) n.695A= c.*11A= (n.*11A=) | |
16 | g.1985948A>C | CA394304252 | GFER | c.313A>C (p.Lys105Gln) c.538A>C (p.Lys180Gln) n.695A>C c.*11A>C (n.*11A>C) | |
16 | g.1985948A>G | CA394304250 | GFER | c.313A>G (p.Lys105Glu) c.538A>G (p.Lys180Glu) n.695A>G c.*11A>G (n.*11A>G) | dbSNP gnomAD v2 |
16 | g.1985948A>T | CA394304248 | GFER | c.313A>T (p.Lys105Ter) c.538A>T (p.Lys180Ter) n.695A>T c.*11A>T (n.*11A>T) | |
16 | g.1985949A>C | CA394304257 | GFER | c.314A>C (p.Lys105Thr) c.539A>C (p.Lys180Thr) n.696A>C c.*12A>C (n.*12A>C) | |
16 | g.1985949A>G | CA394304259 | GFER | c.314A>G (p.Lys105Arg) c.539A>G (p.Lys180Arg) n.696A>G c.*12A>G (n.*12A>G) | |
16 | g.1985949A>T | CA394304262 | GFER | c.314A>T (p.Lys105Met) c.539A>T (p.Lys180Met) n.696A>T c.*12A>T (n.*12A>T) | |
16 | g.1985950G>A | CA492950204 | GFER | c.315G>A (p.Lys105=) c.540G>A (p.Lys180=) n.697G>A c.*13G>A (n.*13G>A) | gnomAD v4 |
16 | g.1985950G>C | CA394304266 | GFER | c.315G>C (p.Lys105Asn) c.540G>C (p.Lys180Asn) n.697G>C c.*13G>C (n.*13G>C) | |
16 | g.1985950G>T | CA394304269 | GFER | c.315G>T (p.Lys105Asn) c.540G>T (p.Lys180Asn) n.697G>T c.*13G>T (n.*13G>T) | |
16 | g.1985951C>A | CA394304276 | GFER | c.316C>A (p.Leu106Met) c.541C>A (p.Leu181Met) n.698C>A c.*14C>A (n.*14C>A) | |
16 | g.1985951C= | CA2201967781 | GFER | c.316C= (p.Leu106=) c.541C= (p.Leu181=) n.698C= c.*14C= (n.*14C=) | |
16 | g.1985951C>G | CA394304278 | GFER | c.316C>G (p.Leu106Val) c.541C>G (p.Leu181Val) n.698C>G c.*14C>G (n.*14C>G) | ClinVar |
16 | g.1985951C>T | CA492950206 | GFER | c.316C>T (p.Leu106=) c.541C>T (p.Leu181=) n.698C>T c.*14C>T (n.*14C>T) | ClinVar dbSNP gnomAD v4 |
16 | g.1985952T>A | CA394304281 | GFER | c.317T>A (p.Leu106Gln) c.542T>A (p.Leu181Gln) n.699T>A c.*15T>A (n.*15T>A) | |
16 | g.1985952T>C | CA394304282 | GFER | c.317T>C (p.Leu106Pro) c.542T>C (p.Leu181Pro) n.699T>C c.*15T>C (n.*15T>C) | |
16 | g.1985952T>G | CA394304285 | GFER | c.317T>G (p.Leu106Arg) c.542T>G (p.Leu181Arg) n.699T>G c.*15T>G (n.*15T>G) | |
16 | g.1985953G>A | CA276773515 | GFER | c.318G>A (p.Leu106=) c.543G>A (p.Leu181=) n.700G>A c.*16G>A (n.*16G>A) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.1985953G>C | CA492950210 | GFER | c.318G>C (p.Leu106=) c.543G>C (p.Leu181=) n.700G>C c.*16G>C (n.*16G>C) | |
16 | g.1985953G= | CA2201967783 | GFER | c.318G= (p.Leu106=) c.543G= (p.Leu181=) n.700G= c.*16G= (n.*16G=) | |
16 | g.1985953G>T | CA492950211 | GFER | c.318G>T (p.Leu106=) c.543G>T (p.Leu181=) n.700G>T c.*16G>T (n.*16G>T) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.1985954G>A | CA276773518 | GFER | c.319G>A (p.Gly107Ser) c.544G>A (p.Gly182Ser) n.701G>A c.*17G>A (n.*17G>A) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.1985954G>C | CA394304293 | GFER | c.319G>C (p.Gly107Arg) c.544G>C (p.Gly182Arg) n.701G>C c.*17G>C (n.*17G>C) | |
16 | g.1985954G= | CA2201967785 | GFER | c.319G= (p.Gly107=) c.544G= (p.Gly182=) n.701G= c.*17G= (n.*17G=) | |
16 | g.1985954G>T | CA394304291 | GFER | c.319G>T (p.Gly107Cys) c.544G>T (p.Gly182Cys) n.701G>T c.*17G>T (n.*17G>T) | |
16 | g.1985955_1985959del | CA2631092509 | GFER | c.320_324del (p.Gly107AlafsTer2) c.545_549del (p.Gly182AlafsTer2) n.702_706del c.*18_*22del (n.*18_*22del) | gnomAD v4 |
16 | g.1985955G>A | CA7826086 | GFER | c.320G>A (p.Gly107Asp) c.545G>A (p.Gly182Asp) n.702G>A c.*18G>A (n.*18G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1985955G>C | CA394304295 | GFER | c.320G>C (p.Gly107Ala) c.545G>C (p.Gly182Ala) n.702G>C c.*18G>C (n.*18G>C) | |
16 | g.1985955G= | CA2201967787 | GFER | c.320G= (p.Gly107=) c.545G= (p.Gly182=) n.702G= c.*18G= (n.*18G=) | |
16 | g.1985955G>T | CA394304296 | GFER | c.320G>T (p.Gly107Val) c.545G>T (p.Gly182Val) n.702G>T c.*18G>T (n.*18G>T) | gnomAD v4 |
16 | g.1985956C>A | CA492950214 | GFER | c.321C>A (p.Gly107=) c.546C>A (p.Gly182=) n.703C>A c.*19C>A (n.*19C>A) | dbSNP gnomAD v2 |
16 | g.1985956C= | CA2201967788 | GFER | c.321C= (p.Gly107=) c.546C= (p.Gly182=) n.703C= c.*19C= (n.*19C=) | |
16 | g.1985956C>G | CA492950216 | GFER | c.321C>G (p.Gly107=) c.546C>G (p.Gly182=) n.703C>G c.*19C>G (n.*19C>G) | |
16 | g.1985956C>T | CA492950218 | GFER | c.321C>T (p.Gly107=) c.546C>T (p.Gly182=) n.703C>T c.*19C>T (n.*19C>T) | |
16 | g.1985957A= | CA2201967790 | GFER | c.322A= (p.Lys108=) c.547A= (p.Lys183=) n.704A= c.*20A= (n.*20A=) | |
16 | g.1985957A>C | CA394304300 | GFER | c.322A>C (p.Lys108Gln) c.547A>C (p.Lys183Gln) n.704A>C c.*20A>C (n.*20A>C) | |
16 | g.1985957A>G | CA394304311 | GFER | c.322A>G (p.Lys108Glu) c.547A>G (p.Lys183Glu) n.704A>G c.*20A>G (n.*20A>G) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.1985957A>T | CA394304324 | GFER | c.322A>T (p.Lys108Ter) c.547A>T (p.Lys183Ter) n.704A>T c.*20A>T (n.*20A>T) | |
16 | g.1985960_1986010del | CA2631092520 | GFER | c.325_375del (p.Pro109_Lys125del) c.550_600del (p.Pro184_Lys200del) n.707_757del c.*23_*73del (n.*23_*73del) | gnomAD v4 |
16 | g.1985958A>C | CA394304328 | GFER | c.323A>C (p.Lys108Thr) c.548A>C (p.Lys183Thr) n.705A>C c.*21A>C (n.*21A>C) | |
16 | g.1985958A>G | CA394304332 | GFER | c.323A>G (p.Lys108Arg) c.548A>G (p.Lys183Arg) n.705A>G c.*21A>G (n.*21A>G) | |
16 | g.1985958A>T | CA394304335 | GFER | c.323A>T (p.Lys108Met) c.548A>T (p.Lys183Met) n.705A>T c.*21A>T (n.*21A>T) | |
16 | g.1985959G>A | CA492950222 | GFER | c.324G>A (p.Lys108=) c.549G>A (p.Lys183=) n.706G>A c.*22G>A (n.*22G>A) | |
16 | g.1985959G>C | CA394304340 | GFER | c.324G>C (p.Lys108Asn) c.549G>C (p.Lys183Asn) n.706G>C c.*22G>C (n.*22G>C) | |
16 | g.1985959G>T | CA394304342 | GFER | c.324G>T (p.Lys108Asn) c.549G>T (p.Lys183Asn) n.706G>T c.*22G>T (n.*22G>T) | |
16 | g.1985960C>A | CA323190 | GFER | c.325C>A (p.Pro109Thr) c.550C>A (p.Pro184Thr) n.707C>A c.*23C>A (n.*23C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1985960C= | CA2201967792 | GFER | c.325C= (p.Pro109=) c.550C= (p.Pro184=) n.707C= c.*23C= (n.*23C=) | |
16 | g.1985960C>G | CA394304349 | GFER | c.325C>G (p.Pro109Ala) c.550C>G (p.Pro184Ala) n.707C>G c.*23C>G (n.*23C>G) | |
16 | g.1985960C>T | CA394304345 | GFER | c.325C>T (p.Pro109Ser) c.550C>T (p.Pro184Ser) n.707C>T c.*23C>T (n.*23C>T) | |
16 | g.1985961C>A | CA394304351 | GFER | c.326C>A (p.Pro109His) c.551C>A (p.Pro184His) n.708C>A c.*24C>A (n.*24C>A) | dbSNP |
16 | g.1985961C= | CA2201967795 | GFER | c.326C= (p.Pro109=) c.551C= (p.Pro184=) n.708C= c.*24C= (n.*24C=) | |
16 | g.1985961C>G | CA394304354 | GFER | c.326C>G (p.Pro109Arg) c.551C>G (p.Pro184Arg) n.708C>G c.*24C>G (n.*24C>G) | |
16 | g.1985961C>T | CA394304364 | GFER | c.326C>T (p.Pro109Leu) c.551C>T (p.Pro184Leu) n.708C>T c.*24C>T (n.*24C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1985962T>A | CA492950226 | GFER | c.327T>A (p.Pro109=) c.552T>A (p.Pro184=) n.709T>A c.*25T>A (n.*25T>A) | |
16 | g.1985962T>C | CA492950227 | GFER | c.327T>C (p.Pro109=) c.552T>C (p.Pro184=) n.709T>C c.*25T>C (n.*25T>C) | |
16 | g.1985962T>G | CA492950228 | GFER | c.327T>G (p.Pro109=) c.552T>G (p.Pro184=) n.709T>G c.*25T>G (n.*25T>G) | |
16 | g.1985963G>A | CA7826087 | GFER | c.328G>A (p.Asp110Asn) c.553G>A (p.Asp185Asn) n.710G>A c.*26G>A (n.*26G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.1985963G>C | CA394304369 | GFER | c.328G>C (p.Asp110His) c.553G>C (p.Asp185His) n.710G>C c.*26G>C (n.*26G>C) | |
16 | g.1985963G= | CA2201967797 | GFER | c.328G= (p.Asp110=) c.553G= (p.Asp185=) n.710G= c.*26G= (n.*26G=) | |
16 | g.1985963G>T | CA394304376 | GFER | c.328G>T (p.Asp110Tyr) c.553G>T (p.Asp185Tyr) n.710G>T c.*26G>T (n.*26G>T) | gnomAD v4 |
16 | g.1985964A>C | CA394304380 | GFER | c.329A>C (p.Asp110Ala) c.554A>C (p.Asp185Ala) n.711A>C c.*27A>C (n.*27A>C) | |
16 | g.1985964A>G | CA394304395 | GFER | c.329A>G (p.Asp110Gly) c.554A>G (p.Asp185Gly) n.711A>G c.*27A>G (n.*27A>G) | |
16 | g.1985964A>T | CA394304385 | GFER | c.329A>T (p.Asp110Val) c.554A>T (p.Asp185Val) n.711A>T c.*27A>T (n.*27A>T) | |
16 | g.1985965C>A | CA394304397 | GFER | c.330C>A (p.Asp110Glu) c.555C>A (p.Asp185Glu) n.712C>A c.*28C>A (n.*28C>A) | |
16 | g.1985965C= | CA2201967799 | GFER | c.330C= (p.Asp110=) c.555C= (p.Asp185=) n.712C= c.*28C= (n.*28C=) | |
16 | g.1985965C>G | CA394304399 | GFER | c.330C>G (p.Asp110Glu) c.555C>G (p.Asp185Glu) n.712C>G c.*28C>G (n.*28C>G) | |
16 | g.1985965C>T | CA492950230 | GFER | c.330C>T (p.Asp110=) c.555C>T (p.Asp185=) n.712C>T c.*28C>T (n.*28C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1985966T>A | CA394304401 | GFER | c.331T>A (p.Phe111Ile) c.556T>A (p.Phe186Ile) n.713T>A c.*29T>A (n.*29T>A) | COSMIC |
16 | g.1985966T>C | CA394304404 | GFER | c.331T>C (p.Phe111Leu) c.556T>C (p.Phe186Leu) n.713T>C c.*29T>C (n.*29T>C) | gnomAD v4 |
16 | g.1985966T>G | CA394304406 | GFER | c.331T>G (p.Phe111Val) c.556T>G (p.Phe186Val) n.713T>G c.*29T>G (n.*29T>G) | |
16 | g.1985967T>A | CA394304429 | GFER | c.332T>A (p.Phe111Tyr) c.557T>A (p.Phe186Tyr) n.714T>A c.*30T>A (n.*30T>A) | |
16 | g.1985967T>C | CA394304421 | GFER | c.332T>C (p.Phe111Ser) c.557T>C (p.Phe186Ser) n.714T>C c.*30T>C (n.*30T>C) | |
16 | g.1985967T>G | CA394304417 | GFER | c.332T>G (p.Phe111Cys) c.557T>G (p.Phe186Cys) n.714T>G c.*30T>G (n.*30T>G) | |
16 | g.1985968C>A | CA394304436 | GFER | c.333C>A (p.Phe111Leu) c.558C>A (p.Phe186Leu) n.715C>A c.*31C>A (n.*31C>A) | |
16 | g.1985968C= | CA2201967801 | GFER | c.333C= (p.Phe111=) c.558C= (p.Phe186=) n.715C= c.*31C= (n.*31C=) | |
16 | g.1985968C>G | CA7826089 | GFER | c.333C>G (p.Phe111Leu) c.558C>G (p.Phe186Leu) n.715C>G c.*31C>G (n.*31C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1985968C>T | CA7826088 | GFER | c.333C>T (p.Phe111=) c.558C>T (p.Phe186=) n.715C>T c.*31C>T (n.*31C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.1985969G>A | CA276773538 | GFER | c.334G>A (p.Asp112Asn) c.559G>A (p.Asp187Asn) n.716G>A c.*32G>A (n.*32G>A) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.1985969G>C | CA394304438 | GFER | c.334G>C (p.Asp112His) c.559G>C (p.Asp187His) n.716G>C c.*32G>C (n.*32G>C) | gnomAD v4 |
16 | g.1985969G= | CA2201967803 | GFER | c.334G= (p.Asp112=) c.559G= (p.Asp187=) n.716G= c.*32G= (n.*32G=) | |
16 | g.1985969G>T | CA394304439 | GFER | c.334G>T (p.Asp112Tyr) c.559G>T (p.Asp187Tyr) n.716G>T c.*32G>T (n.*32G>T) | ClinVar dbSNP gnomAD v4 |
16 | g.1985970A>C | CA394304440 | GFER | c.335A>C (p.Asp112Ala) c.560A>C (p.Asp187Ala) n.717A>C c.*33A>C (n.*33A>C) | |
16 | g.1985970A>G | CA394304442 | GFER | c.335A>G (p.Asp112Gly) c.560A>G (p.Asp187Gly) n.717A>G c.*33A>G (n.*33A>G) | |
16 | g.1985970A>T | CA394304445 | GFER | c.335A>T (p.Asp112Val) c.560A>T (p.Asp187Val) n.717A>T c.*33A>T (n.*33A>T) | |
16 | g.1985971C>A | CA394304447 | GFER | c.336C>A (p.Asp112Glu) c.561C>A (p.Asp187Glu) n.718C>A c.*34C>A (n.*34C>A) | |
16 | g.1985971C>G | CA394304454 | GFER | c.336C>G (p.Asp112Glu) c.561C>G (p.Asp187Glu) n.718C>G c.*34C>G (n.*34C>G) | |
16 | g.1985971C>T | CA492950244 | GFER | c.336C>T (p.Asp112=) c.561C>T (p.Asp187=) n.718C>T c.*34C>T (n.*34C>T) | |
16 | g.1985972T>A | CA394304456 | GFER | c.337T>A (p.Cys113Ser) c.562T>A (p.Cys188Ser) n.719T>A c.*35T>A (n.*35T>A) | |
16 | g.1985972T>C | CA394304463 | GFER | c.337T>C (p.Cys113Arg) c.562T>C (p.Cys188Arg) n.719T>C c.*35T>C (n.*35T>C) | |
16 | g.1985972T>G | CA394304470 | GFER | c.337T>G (p.Cys113Gly) c.562T>G (p.Cys188Gly) n.719T>G c.*35T>G (n.*35T>G) | |
16 | g.1985973G>A | CA394304472 | GFER | c.338G>A (p.Cys113Tyr) c.563G>A (p.Cys188Tyr) n.720G>A c.*36G>A (n.*36G>A) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.1985973G>C | CA394304474 | GFER | c.338G>C (p.Cys113Ser) c.563G>C (p.Cys188Ser) n.720G>C c.*36G>C (n.*36G>C) | gnomAD v4 |
16 | g.1985973G= | CA2201967805 | GFER | c.338G= (p.Cys113=) c.563G= (p.Cys188=) n.720G= c.*36G= (n.*36G=) | |
16 | g.1985973G>T | CA7826090 | GFER | c.338G>T (p.Cys113Phe) c.563G>T (p.Cys188Phe) n.720G>T c.*36G>T (n.*36G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1985974C>A | CA394304487 | GFER | c.339C>A (p.Cys113Ter) c.564C>A (p.Cys188Ter) n.721C>A c.*37C>A (n.*37C>A) | COSMIC |
16 | g.1985974C>G | CA394304490 | GFER | c.339C>G (p.Cys113Trp) c.564C>G (p.Cys188Trp) n.721C>G c.*37C>G (n.*37C>G) | |
16 | g.1985974C>T | CA492950249 | GFER | c.339C>T (p.Cys113=) c.564C>T (p.Cys188=) n.721C>T c.*37C>T (n.*37C>T) | |
16 | g.1985975_1985976del | CA492950250 | GFER | c.340_341del (p.Ser114LysfsTer4) c.565_566del (p.Ser189LysfsTer4) n.722_723del c.*38_*39del (n.*38_*39del) | |
16 | g.1985975T>A | CA394304494 | GFER | c.340T>A (p.Ser114Thr) c.565T>A (p.Ser189Thr) n.722T>A c.*38T>A (n.*38T>A) | |
16 | g.1985975T>C | CA7826091 | GFER | c.340T>C (p.Ser114Pro) c.565T>C (p.Ser189Pro) n.722T>C c.*38T>C (n.*38T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.1985975T>G | CA394304501 | GFER | c.340T>G (p.Ser114Ala) c.565T>G (p.Ser189Ala) n.722T>G c.*38T>G (n.*38T>G) | gnomAD v4 |
16 | g.1985975T= | CA2201967807 | GFER | c.340T= (p.Ser114=) c.565T= (p.Ser189=) n.722T= c.*38T= (n.*38T=) | |
16 | g.1985976C>A | CA394304505 | GFER | c.341C>A (p.Ser114Ter) c.566C>A (p.Ser189Ter) n.723C>A c.*39C>A (n.*39C>A) | gnomAD v4 |
16 | g.1985976C= | CA2201967810 | GFER | c.341C= (p.Ser114=) c.566C= (p.Ser189=) n.723C= c.*39C= (n.*39C=) | |
16 | g.1985976C>G | CA7826092 | GFER | c.341C>G (p.Ser114Ter) c.566C>G (p.Ser189Ter) n.723C>G c.*39C>G (n.*39C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1985976C>T | CA394304511 | GFER | c.341C>T (p.Ser114Leu) c.566C>T (p.Ser189Leu) n.723C>T c.*39C>T (n.*39C>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.1985977A= | CA2201967812 | GFER | c.342A= (p.Ser114=) c.567A= (p.Ser189=) n.724A= c.*40A= (n.*40A=) | |
16 | g.1985977A>C | CA492950260 | GFER | c.342A>C (p.Ser114=) c.567A>C (p.Ser189=) n.724A>C c.*40A>C (n.*40A>C) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.1985977A>G | CA492950261 | GFER | c.342A>G (p.Ser114=) c.567A>G (p.Ser189=) n.724A>G c.*40A>G (n.*40A>G) | gnomAD v4 |
16 | g.1985977A>T | CA492950262 | GFER | c.342A>T (p.Ser114=) c.567A>T (p.Ser189=) n.724A>T c.*40A>T (n.*40A>T) | |
16 | g.1985977_1985980dup | CA492950259 | GFER | c.342_345dup (p.Val116LysfsTer4) c.567_570dup (p.Val191LysfsTer4) n.724_727dup c.*40_*43dup (n.*40_*43dup) | |
16 | g.1985978A>C | CA394304513 | GFER | c.343A>C (p.Lys115Gln) c.568A>C (p.Lys190Gln) n.725A>C c.*41A>C (n.*41A>C) | |
16 | g.1985978A>G | CA394304517 | GFER | c.343A>G (p.Lys115Glu) c.568A>G (p.Lys190Glu) n.725A>G c.*41A>G (n.*41A>G) | |
16 | g.1985978A>T | CA394304521 | GFER | c.343A>T (p.Lys115Ter) c.568A>T (p.Lys190Ter) n.725A>T c.*41A>T (n.*41A>T) | |
16 | g.1985979A= | CA2201967814 | GFER | c.344A= (p.Lys115=) c.569A= (p.Lys190=) n.726A= c.*42A= (n.*42A=) | |
16 | g.1985979A>C | CA7826093 | GFER | c.344A>C (p.Lys115Thr) c.569A>C (p.Lys190Thr) n.726A>C c.*42A>C (n.*42A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.1985979A>G | CA394304526 | GFER | c.344A>G (p.Lys115Arg) c.569A>G (p.Lys190Arg) n.726A>G c.*42A>G (n.*42A>G) | |
16 | g.1985979A>T | CA394304527 | GFER | c.344A>T (p.Lys115Ile) c.569A>T (p.Lys190Ile) n.726A>T c.*42A>T (n.*42A>T) | |
16 | g.1985980A>C | CA394304530 | GFER | c.345A>C (p.Lys115Asn) c.570A>C (p.Lys190Asn) n.727A>C c.*43A>C (n.*43A>C) | |
16 | g.1985980A>G | CA492950266 | GFER | c.345A>G (p.Lys115=) c.570A>G (p.Lys190=) n.727A>G c.*43A>G (n.*43A>G) | |
16 | g.1985980A>T | CA394304532 | GFER | c.345A>T (p.Lys115Asn) c.570A>T (p.Lys190Asn) n.727A>T c.*43A>T (n.*43A>T) | |
16 | g.1985981G>A | CA7826094 | GFER | c.346G>A (p.Val116Met) c.571G>A (p.Val191Met) n.728G>A c.*44G>A (n.*44G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.1985981G>C | CA394304536 | GFER | c.346G>C (p.Val116Leu) c.571G>C (p.Val191Leu) n.728G>C c.*44G>C (n.*44G>C) | |
16 | g.1985981G= | CA2201967817 | GFER | c.346G= (p.Val116=) c.571G= (p.Val191=) n.728G= c.*44G= (n.*44G=) | |
16 | g.1985981G>T | CA394304538 | GFER | c.346G>T (p.Val116Leu) c.571G>T (p.Val191Leu) n.728G>T c.*44G>T (n.*44G>T) | |
16 | g.1985982T>A | CA394304539 | GFER | c.347T>A (p.Val116Glu) c.572T>A (p.Val191Glu) n.729T>A c.*45T>A (n.*45T>A) | |
16 | g.1985982T>C | CA394304540 | GFER | c.347T>C (p.Val116Ala) c.572T>C (p.Val191Ala) n.729T>C c.*45T>C (n.*45T>C) | gnomAD v4 |
16 | g.1985982T>G | CA394304541 | GFER | c.347T>G (p.Val116Gly) c.572T>G (p.Val191Gly) n.729T>G c.*45T>G (n.*45T>G) | |
16 | g.1985983G>A | CA492950269 | GFER | c.348G>A (p.Val116=) c.573G>A (p.Val191=) n.730G>A c.*46G>A (n.*46G>A) | |
16 | g.1985983G>C | CA492950271 | GFER | c.348G>C (p.Val116=) c.573G>C (p.Val191=) n.730G>C c.*46G>C (n.*46G>C) | |
16 | g.1985983G>T | CA492950272 | GFER | c.348G>T (p.Val116=) c.573G>T (p.Val191=) n.730G>T c.*46G>T (n.*46G>T) | gnomAD v4 |
16 | g.1985984G>A | CA394304552 | GFER | c.349G>A (p.Asp117Asn) c.574G>A (p.Asp192Asn) n.731G>A c.*47G>A (n.*47G>A) | |
16 | g.1985984G>C | CA394304545 | GFER | c.349G>C (p.Asp117His) c.574G>C (p.Asp192His) n.731G>C c.*47G>C (n.*47G>C) | |
16 | g.1985984G>T | CA394304546 | GFER | c.349G>T (p.Asp117Tyr) c.574G>T (p.Asp192Tyr) n.731G>T c.*47G>T (n.*47G>T) | gnomAD v4 COSMIC |
16 | g.1985985A= | CA2201967819 | GFER | c.350A= (p.Asp117=) c.575A= (p.Asp192=) n.732A= c.*48A= (n.*48A=) | |
16 | g.1985985A>C | CA394304554 | GFER | c.350A>C (p.Asp117Ala) c.575A>C (p.Asp192Ala) n.732A>C c.*48A>C (n.*48A>C) | |
16 | g.1985985A>G | CA394304558 | GFER | c.350A>G (p.Asp117Gly) c.575A>G (p.Asp192Gly) n.732A>G c.*48A>G (n.*48A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.1985985A>T | CA394304560 | GFER | c.350A>T (p.Asp117Val) c.575A>T (p.Asp192Val) n.732A>T c.*48A>T (n.*48A>T) | |
16 | g.1985986T>A | CA394304563 | GFER | c.351T>A (p.Asp117Glu) c.576T>A (p.Asp192Glu) n.733T>A c.*49T>A (n.*49T>A) | |
16 | g.1985986T>C | CA276773548 | GFER | c.351T>C (p.Asp117=) c.576T>C (p.Asp192=) n.733T>C c.*49T>C (n.*49T>C) | ClinVar dbSNP gnomAD v4 |
16 | g.1985986T>G | CA394304565 | GFER | c.351T>G (p.Asp117Glu) c.576T>G (p.Asp192Glu) n.733T>G c.*49T>G (n.*49T>G) | |
16 | g.1985986T= | CA2201967821 | GFER | c.351T= (p.Asp117=) c.576T= (p.Asp192=) n.733T= c.*49T= (n.*49T=) | |
16 | g.1985987G>A | CA394304567 | GFER | c.352G>A (p.Glu118Lys) c.577G>A (p.Glu193Lys) n.734G>A c.*50G>A (n.*50G>A) | dbSNP |
16 | g.1985987G>C | CA394304573 | GFER | c.352G>C (p.Glu118Gln) c.577G>C (p.Glu193Gln) n.734G>C c.*50G>C (n.*50G>C) | |
16 | g.1985987G= | CA2201967823 | GFER | c.352G= (p.Glu118=) c.577G= (p.Glu193=) n.734G= c.*50G= (n.*50G=) | |
16 | g.1985987G>T | CA394304569 | GFER | c.352G>T (p.Glu118Ter) c.577G>T (p.Glu193Ter) n.734G>T c.*50G>T (n.*50G>T) | |
16 | g.1985988A>C | CA394304575 | GFER | c.353A>C (p.Glu118Ala) c.578A>C (p.Glu193Ala) n.735A>C c.*51A>C (n.*51A>C) | |
16 | g.1985988A>G | CA394304578 | GFER | c.353A>G (p.Glu118Gly) c.578A>G (p.Glu193Gly) n.735A>G c.*51A>G (n.*51A>G) | |
16 | g.1985988A>T | CA394304582 | GFER | c.353A>T (p.Glu118Val) c.578A>T (p.Glu193Val) n.735A>T c.*51A>T (n.*51A>T) | |
16 | g.1985989G>A | CA492950280 | GFER | c.354G>A (p.Glu118=) c.579G>A (p.Glu193=) n.736G>A c.*52G>A (n.*52G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1985989G>C | CA394304585 | GFER | c.354G>C (p.Glu118Asp) c.579G>C (p.Glu193Asp) n.736G>C c.*52G>C (n.*52G>C) | dbSNP |
16 | g.1985989G= | CA2201967825 | GFER | c.354G= (p.Glu118=) c.579G= (p.Glu193=) n.736G= c.*52G= (n.*52G=) | |
16 | g.1985989G>T | CA394304595 | GFER | c.354G>T (p.Glu118Asp) c.579G>T (p.Glu193Asp) n.736G>T c.*52G>T (n.*52G>T) | |
16 | g.1985990C>A | CA394304598 | GFER | c.355C>A (p.Arg119Ser) c.580C>A (p.Arg194Ser) n.737C>A c.*53C>A (n.*53C>A) | |
16 | g.1985990C= | CA2201967826 | GFER | c.355C= (p.Arg119=) c.580C= (p.Arg194=) n.737C= c.*53C= (n.*53C=) | |
16 | g.1985990C>G | CA394304600 | GFER | c.355C>G (p.Arg119Gly) c.580C>G (p.Arg194Gly) n.737C>G c.*53C>G (n.*53C>G) | |
16 | g.1985990C>T | CA7826095 | GFER | c.355C>T (p.Arg119Cys) c.580C>T (p.Arg194Cys) n.737C>T c.*53C>T (n.*53C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1985991G>A | CA119839 | GFER | c.356G>A (p.Arg119His) c.581G>A (p.Arg194His) n.738G>A c.*54G>A (n.*54G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1985991G>C | CA394304605 | GFER | c.356G>C (p.Arg119Pro) c.581G>C (p.Arg194Pro) n.738G>C c.*54G>C (n.*54G>C) | |
16 | g.1985991G= | CA2201967828 | GFER | c.356G= (p.Arg119=) c.581G= (p.Arg194=) n.738G= c.*54G= (n.*54G=) | |
16 | g.1985991G>T | CA394304609 | GFER | c.356G>T (p.Arg119Leu) c.581G>T (p.Arg194Leu) n.738G>T c.*54G>T (n.*54G>T) | |
16 | g.1985992C>A | CA492950289 | GFER | c.357C>A (p.Arg119=) c.582C>A (p.Arg194=) n.739C>A c.*55C>A (n.*55C>A) | |
16 | g.1985992C>G | CA492950290 | GFER | c.357C>G (p.Arg119=) c.582C>G (p.Arg194=) n.739C>G c.*55C>G (n.*55C>G) | |
16 | g.1985992C>T | CA492950287 | GFER | c.357C>T (p.Arg119=) c.582C>T (p.Arg194=) n.739C>T c.*55C>T (n.*55C>T) | |
16 | g.1985993T>A | CA394304613 | GFER | c.358T>A (p.Trp120Arg) c.583T>A (p.Trp195Arg) n.740T>A c.*56T>A (n.*56T>A) | |
16 | g.1985993T>C | CA394304615 | GFER | c.358T>C (p.Trp120Arg) c.583T>C (p.Trp195Arg) n.740T>C c.*56T>C (n.*56T>C) | |
16 | g.1985993T>G | CA394304612 | GFER | c.358T>G (p.Trp120Gly) c.583T>G (p.Trp195Gly) n.740T>G c.*56T>G (n.*56T>G) | |
16 | g.1985994G>A | CA7826096 | GFER | c.359G>A (p.Trp120Ter) c.584G>A (p.Trp195Ter) n.741G>A c.*57G>A (n.*57G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.1985994G>C | CA394304621 | GFER | c.359G>C (p.Trp120Ser) c.584G>C (p.Trp195Ser) n.741G>C c.*57G>C (n.*57G>C) | |
16 | g.1985994G= | CA2201967831 | GFER | c.359G= (p.Trp120=) c.584G= (p.Trp195=) n.741G= c.*57G= (n.*57G=) | |
16 | g.1985994G>T | CA394304618 | GFER | c.359G>T (p.Trp120Leu) c.584G>T (p.Trp195Leu) n.741G>T c.*57G>T (n.*57G>T) | |
16 | g.1985995G>A | CA394304623 | GFER | c.360G>A (p.Trp120Ter) c.585G>A (p.Trp195Ter) n.742G>A c.*58G>A (n.*58G>A) | |
16 | g.1985995G>C | CA394304636 | GFER | c.360G>C (p.Trp120Cys) c.585G>C (p.Trp195Cys) n.742G>C c.*58G>C (n.*58G>C) | gnomAD v4 |
16 | g.1985995G>T | CA394304634 | GFER | c.360G>T (p.Trp120Cys) c.585G>T (p.Trp195Cys) n.742G>T c.*58G>T (n.*58G>T) | |
16 | g.1985996C>A | CA394304637 | GFER | c.361C>A (p.Arg121Ser) c.586C>A (p.Arg196Ser) n.743C>A c.*59C>A (n.*59C>A) | |
16 | g.1985996C= | CA2201967834 | GFER | c.361C= (p.Arg121=) c.586C= (p.Arg196=) n.743C= c.*59C= (n.*59C=) | |
16 | g.1985996C>G | CA394304640 | GFER | c.361C>G (p.Arg121Gly) c.586C>G (p.Arg196Gly) n.743C>G c.*59C>G (n.*59C>G) | |
16 | g.1985996C>T | CA7826097 | GFER | c.361C>T (p.Arg121Cys) c.586C>T (p.Arg196Cys) n.743C>T c.*59C>T (n.*59C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1985997G>A | CA7826098 | GFER | c.362G>A (p.Arg121His) c.587G>A (p.Arg196His) n.744G>A c.*60G>A (n.*60G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1985997G>C | CA394304641 | GFER | c.362G>C (p.Arg121Pro) c.587G>C (p.Arg196Pro) n.744G>C c.*60G>C (n.*60G>C) | |
16 | g.1985997G= | CA2201967838 | GFER | c.362G= (p.Arg121=) c.587G= (p.Arg196=) n.744G= c.*60G= (n.*60G=) | |
16 | g.1985997G>T | CA394304642 | GFER | c.362G>T (p.Arg121Leu) c.587G>T (p.Arg196Leu) n.744G>T c.*60G>T (n.*60G>T) | |
16 | g.1985998C>A | CA492950297 | GFER | c.363C>A (p.Arg121=) c.588C>A (p.Arg196=) n.745C>A c.*61C>A (n.*61C>A) | |
16 | g.1985998C= | CA2201967840 | GFER | c.363C= (p.Arg121=) c.588C= (p.Arg196=) n.745C= c.*61C= (n.*61C=) | |
16 | g.1985998C>G | CA492950298 | GFER | c.363C>G (p.Arg121=) c.588C>G (p.Arg196=) n.745C>G c.*61C>G (n.*61C>G) | gnomAD v4 |
16 | g.1985998C>T | CA7826099 | GFER | c.363C>T (p.Arg121=) c.588C>T (p.Arg196=) n.745C>T c.*61C>T (n.*61C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1985999G>A | CA7826100 | GFER | c.364G>A (p.Asp122Asn) c.589G>A (p.Asp197Asn) n.746G>A c.*62G>A (n.*62G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1985999G>C | CA394304646 | GFER | c.364G>C (p.Asp122His) c.589G>C (p.Asp197His) n.746G>C c.*62G>C (n.*62G>C) | |
16 | g.1985999G= | CA2201967843 | GFER | c.364G= (p.Asp122=) c.589G= (p.Asp197=) n.746G= c.*62G= (n.*62G=) | |
16 | g.1985999G>T | CA394304649 | GFER | c.364G>T (p.Asp122Tyr) c.589G>T (p.Asp197Tyr) n.746G>T c.*62G>T (n.*62G>T) | gnomAD v4 |
16 | g.1986000A>C | CA394304651 | GFER | c.365A>C (p.Asp122Ala) c.590A>C (p.Asp197Ala) n.747A>C c.*63A>C (n.*63A>C) | |
16 | g.1986000A>G | CA394304652 | GFER | c.365A>G (p.Asp122Gly) c.590A>G (p.Asp197Gly) n.747A>G c.*63A>G (n.*63A>G) | |
16 | g.1986000A>T | CA394304653 | GFER | c.365A>T (p.Asp122Val) c.590A>T (p.Asp197Val) n.747A>T c.*63A>T (n.*63A>T) | |
16 | g.1986001C>A | CA394304654 | GFER | c.366C>A (p.Asp122Glu) c.591C>A (p.Asp197Glu) n.748C>A c.*64C>A (n.*64C>A) | |
16 | g.1986001C= | CA2201967845 | GFER | c.366C= (p.Asp122=) c.591C= (p.Asp197=) n.748C= c.*64C= (n.*64C=) | |
16 | g.1986001C>G | CA7826102 | GFER | c.366C>G (p.Asp122Glu) c.591C>G (p.Asp197Glu) n.748C>G c.*64C>G (n.*64C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1986001C>T | CA7826101 | GFER | c.366C>T (p.Asp122=) c.591C>T (p.Asp197=) n.748C>T c.*64C>T (n.*64C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1986002G>A | CA320714 | GFER | c.367G>A (p.Gly123Ser) c.592G>A (p.Gly198Ser) n.749G>A c.*65G>A (n.*65G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1986002G>C | CA394304660 | GFER | c.367G>C (p.Gly123Arg) c.592G>C (p.Gly198Arg) n.749G>C c.*65G>C (n.*65G>C) | |
16 | g.1986002G= | CA2201967850 | GFER | c.367G= (p.Gly123=) c.592G= (p.Gly198=) n.749G= c.*65G= (n.*65G=) | |
16 | g.1986002G>T | CA394304663 | GFER | c.367G>T (p.Gly123Cys) c.592G>T (p.Gly198Cys) n.749G>T c.*65G>T (n.*65G>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.1986003G>A | CA394304666 | GFER | c.368G>A (p.Gly123Asp) c.593G>A (p.Gly198Asp) n.750G>A c.*66G>A (n.*66G>A) | |
16 | g.1986003G>C | CA394304668 | GFER | c.368G>C (p.Gly123Ala) c.593G>C (p.Gly198Ala) n.750G>C c.*66G>C (n.*66G>C) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.1986003G= | CA2201967852 | GFER | c.368G= (p.Gly123=) c.593G= (p.Gly198=) n.750G= c.*66G= (n.*66G=) | |
16 | g.1986003G>T | CA394304677 | GFER | c.368G>T (p.Gly123Val) c.593G>T (p.Gly198Val) n.750G>T c.*66G>T (n.*66G>T) | |
16 | g.1986004C>A | CA492950302 | GFER | c.369C>A (p.Gly123=) c.594C>A (p.Gly198=) n.751C>A c.*67C>A (n.*67C>A) | |
16 | g.1986004C>G | CA492950303 | GFER | c.369C>G (p.Gly123=) c.594C>G (p.Gly198=) n.751C>G c.*67C>G (n.*67C>G) | gnomAD v4 |
16 | g.1986004C>T | CA492950304 | GFER | c.369C>T (p.Gly123=) c.594C>T (p.Gly198=) n.751C>T c.*67C>T (n.*67C>T) | |
16 | g.1986005T>A | CA394304683 | GFER | c.370T>A (p.Trp124Arg) c.595T>A (p.Trp199Arg) n.752T>A c.*68T>A (n.*68T>A) | |
16 | g.1986005T>C | CA394304685 | GFER | c.370T>C (p.Trp124Arg) c.595T>C (p.Trp199Arg) n.752T>C c.*68T>C (n.*68T>C) | gnomAD v4 |
16 | g.1986005T>G | CA394304688 | GFER | c.370T>G (p.Trp124Gly) c.595T>G (p.Trp199Gly) n.752T>G c.*68T>G (n.*68T>G) | |
16 | g.1986006G>A | CA394304694 | GFER | c.371G>A (p.Trp124Ter) c.596G>A (p.Trp199Ter) n.753G>A c.*69G>A (n.*69G>A) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.1986006G>C | CA394304692 | GFER | c.371G>C (p.Trp124Ser) c.596G>C (p.Trp199Ser) n.753G>C c.*69G>C (n.*69G>C) | dbSNP |
16 | g.1986006G= | CA2201967853 | GFER | c.371G= (p.Trp124=) c.596G= (p.Trp199=) n.753G= c.*69G= (n.*69G=) | |
16 | g.1986006G>T | CA394304690 | GFER | c.371G>T (p.Trp124Leu) c.596G>T (p.Trp199Leu) n.753G>T c.*69G>T (n.*69G>T) | COSMIC |
16 | g.1986007G>A | CA7826103 | GFER | c.372G>A (p.Trp124Ter) c.597G>A (p.Trp199Ter) n.754G>A c.*70G>A (n.*70G>A) | dbSNP ExAC gnomAD v2 |
16 | g.1986007G>C | CA394304700 | GFER | c.372G>C (p.Trp124Cys) c.597G>C (p.Trp199Cys) n.754G>C c.*70G>C (n.*70G>C) | |
16 | g.1986007G= | CA2201967856 | GFER | c.372G= (p.Trp124=) c.597G= (p.Trp199=) n.754G= c.*70G= (n.*70G=) | |
16 | g.1986007G>T | CA394304704 | GFER | c.372G>T (p.Trp124Cys) c.597G>T (p.Trp199Cys) n.754G>T c.*70G>T (n.*70G>T) | |
16 | g.1986008A>C | CA394304706 | GFER | c.373A>C (p.Lys125Gln) c.598A>C (p.Lys200Gln) n.755A>C c.*71A>C (n.*71A>C) | |
16 | g.1986008A>G | CA394304711 | GFER | c.373A>G (p.Lys125Glu) c.598A>G (p.Lys200Glu) n.755A>G c.*71A>G (n.*71A>G) | |
16 | g.1986008A>T | CA394304713 | GFER | c.373A>T (p.Lys125Ter) c.598A>T (p.Lys200Ter) n.755A>T c.*71A>T (n.*71A>T) | |
16 | g.1986009A>C | CA394304716 | GFER | c.374A>C (p.Lys125Thr) c.599A>C (p.Lys200Thr) n.756A>C c.*72A>C (n.*72A>C) | |
16 | g.1986009A>G | CA394304719 | GFER | c.374A>G (p.Lys125Arg) c.599A>G (p.Lys200Arg) n.756A>G c.*72A>G (n.*72A>G) | |
16 | g.1986009A>T | CA394304720 | GFER | c.374A>T (p.Lys125Met) c.599A>T (p.Lys200Met) n.756A>T c.*72A>T (n.*72A>T) | |
16 | g.1986010G>A | CA7826104 | GFER | c.375G>A (p.Lys125=) c.600G>A (p.Lys200=) n.757G>A c.*73G>A (n.*73G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1986010G>C | CA394304728 | GFER | c.375G>C (p.Lys125Asn) c.600G>C (p.Lys200Asn) n.757G>C c.*73G>C (n.*73G>C) | |
16 | g.1986010G= | CA2201967862 | GFER | c.375G= (p.Lys125=) c.600G= (p.Lys200=) n.757G= c.*73G= (n.*73G=) | |
16 | g.1986010G>T | CA394304730 | GFER | c.375G>T (p.Lys125Asn) c.600G>T (p.Lys200Asn) n.757G>T c.*73G>T (n.*73G>T) | |
16 | g.1986011G>A | CA7826105 | GFER | c.376G>A (p.Asp126Asn) c.601G>A (p.Asp201Asn) n.758G>A c.*74G>A (n.*74G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1986011G>C | CA7826106 | GFER | c.376G>C (p.Asp126His) c.601G>C (p.Asp201His) n.758G>C c.*74G>C (n.*74G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.1986011G= | CA2201967867 | GFER | c.376G= (p.Asp126=) c.601G= (p.Asp201=) n.758G= c.*74G= (n.*74G=) | |
16 | g.1986011G>T | CA394304735 | GFER | c.376G>T (p.Asp126Tyr) c.601G>T (p.Asp201Tyr) n.758G>T c.*74G>T (n.*74G>T) | |
16 | g.1986012A= | CA2201967870 | GFER | c.377A= (p.Asp126=) c.602A= (p.Asp201=) n.759A= c.*75A= (n.*75A=) | |
16 | g.1986012A>C | CA7826107 | GFER | c.377A>C (p.Asp126Ala) c.602A>C (p.Asp201Ala) n.759A>C c.*75A>C (n.*75A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.1986012A>G | CA394304742 | GFER | c.377A>G (p.Asp126Gly) c.602A>G (p.Asp201Gly) n.759A>G c.*75A>G (n.*75A>G) | |
16 | g.1986012A>T | CA394304746 | GFER | c.377A>T (p.Asp126Val) c.602A>T (p.Asp201Val) n.759A>T c.*75A>T (n.*75A>T) | |
16 | g.1986013T>A | CA394304749 | GFER | c.378T>A (p.Asp126Glu) c.603T>A (p.Asp201Glu) n.760T>A c.*76T>A (n.*76T>A) | |
16 | g.1986013T>C | CA492950315 | GFER | c.378T>C (p.Asp126=) c.603T>C (p.Asp201=) n.760T>C c.*76T>C (n.*76T>C) | |
16 | g.1986013T>G | CA394304751 | GFER | c.378T>G (p.Asp126Glu) c.603T>G (p.Asp201Glu) n.760T>G c.*76T>G (n.*76T>G) | |
16 | g.1986014G>A | CA7826108 | GFER | c.379G>A (p.Gly127Ser) c.604G>A (p.Gly202Ser) n.761G>A c.*77G>A (n.*77G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.1986014G>C | CA394304758 | GFER | c.379G>C (p.Gly127Arg) c.604G>C (p.Gly202Arg) n.761G>C c.*77G>C (n.*77G>C) | |
16 | g.1986014G= | CA2201967874 | GFER | c.379G= (p.Gly127=) c.604G= (p.Gly202=) n.761G= c.*77G= (n.*77G=) | |
16 | g.1986014G>T | CA394304760 | GFER | c.379G>T (p.Gly127Cys) c.604G>T (p.Gly202Cys) n.761G>T c.*77G>T (n.*77G>T) | gnomAD v4 |
16 | g.1986015G>A | CA394304763 | GFER | c.380G>A (p.Gly127Asp) c.605G>A (p.Gly202Asp) n.762G>A c.*78G>A (n.*78G>A) | |
16 | g.1986015G>C | CA394304767 | GFER | c.380G>C (p.Gly127Ala) c.605G>C (p.Gly202Ala) n.762G>C c.*78G>C (n.*78G>C) | |
16 | g.1986015G>T | CA394304769 | GFER | c.380G>T (p.Gly127Val) c.605G>T (p.Gly202Val) n.762G>T c.*78G>T (n.*78G>T) | |
16 | g.1986016C>A | CA492950316 | GFER | c.381C>A (p.Gly127=) c.606C>A (p.Gly202=) n.763C>A c.*79C>A (n.*79C>A) | |
16 | g.1986016C>G | CA492950321 | GFER | c.381C>G (p.Gly127=) c.606C>G (p.Gly202=) n.763C>G c.*79C>G (n.*79C>G) | |
16 | g.1986016C>T | CA492950319 | GFER | c.381C>T (p.Gly127=) c.606C>T (p.Gly202=) n.763C>T c.*79C>T (n.*79C>T) | |
16 | g.1986017T>A | CA394304782 | GFER | c.382T>A (p.Ser128Thr) c.607T>A (p.Ser203Thr) n.764T>A c.*80T>A (n.*80T>A) | |
16 | g.1986017T>C | CA394304778 | GFER | c.382T>C (p.Ser128Pro) c.607T>C (p.Ser203Pro) n.764T>C c.*80T>C (n.*80T>C) | |
16 | g.1986017T>G | CA394304777 | GFER | c.382T>G (p.Ser128Ala) c.607T>G (p.Ser203Ala) n.764T>G c.*80T>G (n.*80T>G) | |
16 | g.1986018C>A | CA394304783 | GFER | c.383C>A (p.Ser128Tyr) c.608C>A (p.Ser203Tyr) n.765C>A c.*81C>A (n.*81C>A) | |
16 | g.1986018C= | CA2201967876 | GFER | c.383C= (p.Ser128=) c.608C= (p.Ser203=) n.765C= c.*81C= (n.*81C=) | |
16 | g.1986018C>G | CA7826109 | GFER | c.383C>G (p.Ser128Cys) c.608C>G (p.Ser203Cys) n.765C>G c.*81C>G (n.*81C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.1986018C>T | CA394304787 | GFER | c.383C>T (p.Ser128Phe) c.608C>T (p.Ser203Phe) n.765C>T c.*81C>T (n.*81C>T) | gnomAD v4 |
16 | g.1986019C>A | CA492950322 | GFER | c.384C>A (p.Ser128=) c.609C>A (p.Ser203=) n.766C>A c.*82C>A (n.*82C>A) | |
16 | g.1986019C= | CA2201967878 | GFER | c.384C= (p.Ser128=) c.609C= (p.Ser203=) n.766C= c.*82C= (n.*82C=) | |
16 | g.1986019C>G | CA492950323 | GFER | c.384C>G (p.Ser128=) c.609C>G (p.Ser203=) n.766C>G c.*82C>G (n.*82C>G) | |
16 | g.1986019C>T | CA276773588 | GFER | c.384C>T (p.Ser128=) c.609C>T (p.Ser203=) n.766C>T c.*82C>T (n.*82C>T) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.1986020T>A | CA394304796 | GFER | c.385T>A (p.Cys129Ser) c.610T>A (p.Cys204Ser) n.767T>A c.*83T>A (n.*83T>A) | |
16 | g.1986020T>C | CA7826110 | GFER | c.385T>C (p.Cys129Arg) c.610T>C (p.Cys204Arg) n.767T>C c.*83T>C (n.*83T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.1986020T>G | CA394304797 | GFER | c.385T>G (p.Cys129Gly) c.610T>G (p.Cys204Gly) n.767T>G c.*83T>G (n.*83T>G) | |
16 | g.1986020T= | CA2201967880 | GFER | c.385T= (p.Cys129=) c.610T= (p.Cys204=) n.767T= c.*83T= (n.*83T=) | |
16 | g.1986021G>A | CA394304800 | GFER | c.386G>A (p.Cys129Tyr) c.611G>A (p.Cys204Tyr) n.768G>A c.*84G>A (n.*84G>A) | gnomAD v4 |
16 | g.1986021G>C | CA276773592 | GFER | c.386G>C (p.Cys129Ser) c.611G>C (p.Cys204Ser) n.768G>C c.*84G>C (n.*84G>C) | dbSNP |
16 | g.1986021G= | CA2201967882 | GFER | c.386G= (p.Cys129=) c.611G= (p.Cys204=) n.768G= c.*84G= (n.*84G=) | |
16 | g.1986021G>T | CA394304806 | GFER | c.386G>T (p.Cys129Phe) c.611G>T (p.Cys204Phe) n.768G>T c.*84G>T (n.*84G>T) | |
16 | g.1986022T>A | CA394304809 | GFER | c.387T>A (p.Cys129Ter) c.612T>A (p.Cys204Ter) n.769T>A c.*85T>A (n.*85T>A) | |
16 | g.1986022T>C | CA492950327 | GFER | c.387T>C (p.Cys129=) c.612T>C (p.Cys204=) n.769T>C c.*85T>C (n.*85T>C) | dbSNP |
16 | g.1986022T>G | CA394304813 | GFER | c.387T>G (p.Cys129Trp) c.612T>G (p.Cys204Trp) n.769T>G c.*85T>G (n.*85T>G) | |
16 | g.1986022T= | CA2201967884 | GFER | c.387T= (p.Cys129=) c.612T= (p.Cys204=) n.769T= c.*85T= (n.*85T=) | |
16 | g.1986023G>A | CA394304820 | GFER | c.388G>A (p.Asp130Asn) c.613G>A (p.Asp205Asn) n.770G>A c.*86G>A (n.*86G>A) | gnomAD v4 COSMIC |
16 | g.1986023G>C | CA394304827 | GFER | c.388G>C (p.Asp130His) c.613G>C (p.Asp205His) n.770G>C c.*86G>C (n.*86G>C) | |
16 | g.1986023G>T | CA394304838 | GFER | c.388G>T (p.Asp130Tyr) c.613G>T (p.Asp205Tyr) n.770G>T c.*86G>T (n.*86G>T) | gnomAD v4 |
16 | g.1986024A= | CA2201967886 | GFER | c.389A= (p.Asp130=) c.614A= (p.Asp205=) n.771A= c.*87A= (n.*87A=) | |
16 | g.1986024A>C | CA276773595 | GFER | c.389A>C (p.Asp130Ala) c.614A>C (p.Asp205Ala) n.771A>C c.*87A>C (n.*87A>C) | dbSNP |
16 | g.1986024A>G | CA394304839 | GFER | c.389A>G (p.Asp130Gly) c.614A>G (p.Asp205Gly) n.771A>G c.*87A>G (n.*87A>G) | |
16 | g.1986024A>T | CA394304840 | GFER | c.389A>T (p.Asp130Val) c.614A>T (p.Asp205Val) n.771A>T c.*87A>T (n.*87A>T) | |
16 | g.1986025C>A | CA394304841 | GFER | c.390C>A (p.Asp130Glu) c.615C>A (p.Asp205Glu) n.772C>A c.*88C>A (n.*88C>A) | |
16 | g.1986025C>G | CA394304842 | GFER | c.390C>G (p.Asp130Glu) c.615C>G (p.Asp205Glu) n.772C>G c.*88C>G (n.*88C>G) | |
16 | g.1986025C>T | CA492950331 | GFER | c.390C>T (p.Asp130=) c.615C>T (p.Asp205=) n.772C>T c.*88C>T (n.*88C>T) |