UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.6718252G>A | CA403645026 | C3 | n.489C>T c.305C>T (p.Ser102Phe) c.428C>T (p.Ser143Phe) | |
| 19 | g.6718252G>C | CA403645027 | C3 | n.489C>G c.305C>G (p.Ser102Cys) c.428C>G (p.Ser143Cys) | |
| 19 | g.6718252G>T | CA403645028 | C3 | n.489C>A c.305C>A (p.Ser102Tyr) c.428C>A (p.Ser143Tyr) | |
| 19 | g.6718253A= | CA2320570601 | C3 | n.488T= c.304T= (p.Ser102=) c.427T= (p.Ser143=) | |
| 19 | g.6718253A>C | CA9129835 | C3 | n.488T>G c.304T>G (p.Ser102Ala) c.427T>G (p.Ser143Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.6718253A>G | CA403645029 | C3 | n.488T>C c.304T>C (p.Ser102Pro) c.427T>C (p.Ser143Pro) | |
| 19 | g.6718253A>T | CA403645030 | C3 | n.488T>A c.304T>A (p.Ser102Thr) c.427T>A (p.Ser143Thr) | |
| 19 | g.6718254G>A | CA304803497 | C3 | n.487C>T c.303C>T (p.Gly101=) c.426C>T (p.Gly142=) | dbSNP gnomAD v4 |
| 19 | g.6718254G>C | CA505125130 | C3 | n.487C>G c.303C>G (p.Gly101=) c.426C>G (p.Gly142=) | |
| 19 | g.6718254G= | CA2320570602 | C3 | n.487C= c.303C= (p.Gly101=) c.426C= (p.Gly142=) | |
| 19 | g.6718254G>T | CA505125131 | C3 | n.487C>A c.303C>A (p.Gly101=) c.426C>A (p.Gly142=) | |
| 19 | g.6718255C>A | CA403645031 | C3 | n.486G>T c.302G>T (p.Gly101Val) c.425G>T (p.Gly142Val) | |
| 19 | g.6718255C= | CA2320570603 | C3 | n.486G= c.302G= (p.Gly101=) c.425G= (p.Gly142=) | |
| 19 | g.6718255C>G | CA403645033 | C3 | n.486G>C c.302G>C (p.Gly101Ala) c.425G>C (p.Gly142Ala) | |
| 19 | g.6718255C>T | CA403645032 | C3 | n.486G>A c.302G>A (p.Gly101Asp) c.425G>A (p.Gly142Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.6718256C>A | CA403645034 | C3 | n.485G>T c.301G>T (p.Gly101Cys) c.424G>T (p.Gly142Cys) | |
| 19 | g.6718256C>G | CA403645036 | C3 | n.485G>C c.301G>C (p.Gly101Arg) c.424G>C (p.Gly142Arg) | COSMIC |
| 19 | g.6718256C>T | CA403645035 | C3 | n.485G>A c.301G>A (p.Gly101Ser) c.424G>A (p.Gly142Ser) | |
| 19 | g.6718257A>C | CA505125132 | C3 | n.484T>G c.300T>G (p.Pro100=) c.423T>G (p.Pro141=) | |
| 19 | g.6718257A>G | CA505125134 | C3 | n.484T>C c.300T>C (p.Pro100=) c.423T>C (p.Pro141=) | |
| 19 | g.6718257A>T | CA505125133 | C3 | n.484T>A c.300T>A (p.Pro100=) c.423T>A (p.Pro141=) | |
| 19 | g.6718258G>A | CA403645037 | C3 | n.483C>T c.299C>T (p.Pro100Leu) c.422C>T (p.Pro141Leu) | gnomAD v4 |
| 19 | g.6718258G>C | CA403645039 | C3 | n.483C>G c.299C>G (p.Pro100Arg) c.422C>G (p.Pro141Arg) | |
| 19 | g.6718258G>T | CA403645038 | C3 | n.483C>A c.299C>A (p.Pro100His) c.422C>A (p.Pro141His) | |
| 19 | g.6718259G>A | CA403645040 | C3 | n.482C>T c.298C>T (p.Pro100Ser) c.421C>T (p.Pro141Ser) | |
| 19 | g.6718259G>C | CA403645041 | C3 | n.482C>G c.298C>G (p.Pro100Ala) c.421C>G (p.Pro141Ala) | |
| 19 | g.6718259G>T | CA403645042 | C3 | n.482C>A c.298C>A (p.Pro100Thr) c.421C>A (p.Pro141Thr) | |
| 19 | g.6718260G>A | CA505125135 | C3 | n.481C>T c.297C>T (p.Thr99=) c.420C>T (p.Thr140=) | gnomAD v4 COSMIC |
| 19 | g.6718260G>C | CA505125136 | C3 | n.481C>G c.297C>G (p.Thr99=) c.420C>G (p.Thr140=) | |
| 19 | g.6718260G= | CA2320570604 | C3 | n.481C= c.297C= (p.Thr99=) c.420C= (p.Thr140=) | |
| 19 | g.6718260G>T | CA9129836 | C3 | n.481C>A c.297C>A (p.Thr99=) c.420C>A (p.Thr140=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.6718261G>A | CA403645043 | C3 | n.480C>T c.296C>T (p.Thr99Ile) c.419C>T (p.Thr140Ile) | COSMIC |
| 19 | g.6718261G>C | CA403645044 | C3 | n.480C>G c.296C>G (p.Thr99Ser) c.419C>G (p.Thr140Ser) | |
| 19 | g.6718261G>T | CA403645045 | C3 | n.480C>A c.296C>A (p.Thr99Asn) c.419C>A (p.Thr140Asn) | |
| 19 | g.6718262T>A | CA403645046 | C3 | n.479A>T c.295A>T (p.Thr99Ser) c.418A>T (p.Thr140Ser) | |
| 19 | g.6718262T>C | CA403645047 | C3 | n.479A>G c.295A>G (p.Thr99Ala) c.418A>G (p.Thr140Ala) | |
| 19 | g.6718262T>G | CA403645048 | C3 | n.479A>C c.295A>C (p.Thr99Pro) c.418A>C (p.Thr140Pro) | dbSNP gnomAD v4 |
| 19 | g.6718262T= | CA2320570605 | C3 | n.479A= c.295A= (p.Thr99=) c.418A= (p.Thr140=) | |
| 19 | g.6718263G>A | CA505125137 | C3 | n.478C>T c.294C>T (p.Tyr98=) c.417C>T (p.Tyr139=) | |
| 19 | g.6718263G>C | CA403645049 | C3 | n.478C>G c.294C>G (p.Tyr98Ter) c.417C>G (p.Tyr139Ter) | |
| 19 | g.6718263G>T | CA403645050 | C3 | n.478C>A c.294C>A (p.Tyr98Ter) c.417C>A (p.Tyr139Ter) | |
| 19 | g.6718264T>A | CA403645053 | C3 | n.477A>T c.293A>T (p.Tyr98Phe) c.416A>T (p.Tyr139Phe) | |
| 19 | g.6718264T>C | CA403645052 | C3 | n.477A>G c.293A>G (p.Tyr98Cys) c.416A>G (p.Tyr139Cys) | |
| 19 | g.6718264T>G | CA403645051 | C3 | n.477A>C c.293A>C (p.Tyr98Ser) c.416A>C (p.Tyr139Ser) | |
| 19 | g.6718265A>C | CA403645054 | C3 | n.476T>G c.292T>G (p.Tyr98Asp) c.415T>G (p.Tyr139Asp) | |
| 19 | g.6718265A>G | CA403645055 | C3 | n.476T>C c.292T>C (p.Tyr98His) c.415T>C (p.Tyr139His) | |
| 19 | g.6718265A>T | CA403645056 | C3 | n.476T>A c.292T>A (p.Tyr98Asn) c.415T>A (p.Tyr139Asn) | |
| 19 | g.6718266G>A | CA505125138 | C3 | n.475C>T c.291C>T (p.Ile97=) c.414C>T (p.Ile138=) | |
| 19 | g.6718266G>C | CA403645057 | C3 | n.475C>G c.291C>G (p.Ile97Met) c.414C>G (p.Ile138Met) | |
| 19 | g.6718266G>T | CA505125139 | C3 | n.475C>A c.291C>A (p.Ile97=) c.414C>A (p.Ile138=) | |
| 19 | g.6718267A>C | CA403645058 | C3 | n.474T>G c.290T>G (p.Ile97Ser) c.413T>G (p.Ile138Ser) | |
| 19 | g.6718267A>G | CA403645059 | C3 | n.474T>C c.290T>C (p.Ile97Thr) c.413T>C (p.Ile138Thr) | |
| 19 | g.6718267A>T | CA403645060 | C3 | n.474T>A c.290T>A (p.Ile97Asn) c.413T>A (p.Ile138Asn) | |
| 19 | g.6718268T>A | CA403645061 | C3 | n.473A>T c.289A>T (p.Ile97Phe) c.412A>T (p.Ile138Phe) | |
| 19 | g.6718268T>C | CA403645062 | C3 | n.473A>G c.289A>G (p.Ile97Val) c.412A>G (p.Ile138Val) | gnomAD v4 |
| 19 | g.6718268T>G | CA403645063 | C3 | n.473A>C c.289A>C (p.Ile97Leu) c.412A>C (p.Ile138Leu) | |
| 19 | g.6718269G>A | CA505125140 | C3 | n.472C>T c.288C>T (p.Thr96=) c.411C>T (p.Thr137=) | dbSNP |
| 19 | g.6718269G>C | CA505125141 | C3 | n.472C>G c.288C>G (p.Thr96=) c.411C>G (p.Thr137=) | |
| 19 | g.6718269G= | CA2320570606 | C3 | n.472C= c.288C= (p.Thr96=) c.411C= (p.Thr137=) | |
| 19 | g.6718269G>T | CA505125142 | C3 | n.472C>A c.288C>A (p.Thr96=) c.411C>A (p.Thr137=) | |
| 19 | g.6718270G>A | CA403645064 | C3 | n.471C>T c.287C>T (p.Thr96Ile) c.410C>T (p.Thr137Ile) | |
| 19 | g.6718270G>C | CA403645065 | C3 | n.471C>G c.287C>G (p.Thr96Ser) c.410C>G (p.Thr137Ser) | |
| 19 | g.6718270G>T | CA403645066 | C3 | n.471C>A c.287C>A (p.Thr96Asn) c.410C>A (p.Thr137Asn) | |
| 19 | g.6718271T>A | CA403645068 | C3 | n.470A>T c.286A>T (p.Thr96Ser) c.409A>T (p.Thr137Ser) | |
| 19 | g.6718271T>C | CA403645069 | C3 | n.470A>G c.286A>G (p.Thr96Ala) c.409A>G (p.Thr137Ala) | |
| 19 | g.6718271T>G | CA403645067 | C3 | n.470A>C c.286A>C (p.Thr96Pro) c.409A>C (p.Thr137Pro) | gnomAD v4 |
| 19 | g.6718272C>A | CA403645070 | C3 | n.469G>T c.285G>T (p.Lys95Asn) c.408G>T (p.Lys136Asn) | |
| 19 | g.6718272C= | CA2320570607 | C3 | n.469G= c.285G= (p.Lys95=) c.408G= (p.Lys136=) | |
| 19 | g.6718272C>G | CA403645071 | C3 | n.469G>C c.285G>C (p.Lys95Asn) c.408G>C (p.Lys136Asn) | |
| 19 | g.6718272C>T | CA505125143 | C3 | n.469G>A c.285G>A (p.Lys95=) c.408G>A (p.Lys136=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.6718273T>A | CA403645072 | C3 | n.468A>T c.284A>T (p.Lys95Met) c.407A>T (p.Lys136Met) | |
| 19 | g.6718273T>C | CA403645073 | C3 | n.468A>G c.284A>G (p.Lys95Arg) c.407A>G (p.Lys136Arg) | dbSNP |
| 19 | g.6718273T>G | CA403645074 | C3 | n.468A>C c.284A>C (p.Lys95Thr) c.407A>C (p.Lys136Thr) | |
| 19 | g.6718273T= | CA2320570608 | C3 | n.468A= c.284A= (p.Lys95=) c.407A= (p.Lys136=) | |
| 19 | g.6718274T>A | CA403645075 | C3 | n.467A>T c.283A>T (p.Lys95Ter) c.406A>T (p.Lys136Ter) | |
| 19 | g.6718274T>C | CA403645076 | C3 | n.467A>G c.283A>G (p.Lys95Glu) c.406A>G (p.Lys136Glu) | |
| 19 | g.6718274T>G | CA403645077 | C3 | n.467A>C c.283A>C (p.Lys95Gln) c.406A>C (p.Lys136Gln) | |
| 19 | g.6718275G>A | CA505125144 | C3 | n.466C>T c.282C>T (p.Asp94=) c.405C>T (p.Asp135=) | |
| 19 | g.6718275G>C | CA403645078 | C3 | n.466C>G c.282C>G (p.Asp94Glu) c.405C>G (p.Asp135Glu) | |
| 19 | g.6718275G>T | CA403645079 | C3 | n.466C>A c.282C>A (p.Asp94Glu) c.405C>A (p.Asp135Glu) | |
| 19 | g.6718276T>A | CA403645080 | C3 | n.465A>T c.281A>T (p.Asp94Val) c.404A>T (p.Asp135Val) | |
| 19 | g.6718276T>C | CA403645081 | C3 | n.465A>G c.281A>G (p.Asp94Gly) c.404A>G (p.Asp135Gly) | |
| 19 | g.6718276T>G | CA403645082 | C3 | n.465A>C c.281A>C (p.Asp94Ala) c.404A>C (p.Asp135Ala) | |
| 19 | g.6718277C>A | CA403645083 | C3 | n.464G>T c.280G>T (p.Asp94Tyr) c.403G>T (p.Asp135Tyr) | |
| 19 | g.6718277C>G | CA403645085 | C3 | n.464G>C c.280G>C (p.Asp94His) c.403G>C (p.Asp135His) | |
| 19 | g.6718277C>T | CA403645084 | C3 | n.464G>A c.280G>A (p.Asp94Asn) c.403G>A (p.Asp135Asn) | |
| 19 | g.6718278T>A | CA505125145 | C3 | n.463A>T c.279A>T (p.Thr93=) c.402A>T (p.Thr134=) | |
| 19 | g.6718278T>C | CA505125146 | C3 | n.463A>G c.279A>G (p.Thr93=) c.402A>G (p.Thr134=) | gnomAD v4 |
| 19 | g.6718278T>G | CA9129837 | C3 | n.463A>C c.279A>C (p.Thr93=) c.402A>C (p.Thr134=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.6718278T= | CA2320570609 | C3 | n.463A= c.279A= (p.Thr93=) c.402A= (p.Thr134=) | |
| 19 | g.6718279G>A | CA403645086 | C3 | n.462C>T c.278C>T (p.Thr93Ile) c.401C>T (p.Thr134Ile) | |
| 19 | g.6718279G>C | CA403645087 | C3 | n.462C>G c.278C>G (p.Thr93Arg) c.401C>G (p.Thr134Arg) | |
| 19 | g.6718279G>T | CA403645088 | C3 | n.462C>A c.278C>A (p.Thr93Lys) c.401C>A (p.Thr134Lys) | |
| 19 | g.6718280T>A | CA403645089 | C3 | n.461A>T c.277A>T (p.Thr93Ser) c.400A>T (p.Thr134Ser) | |
| 19 | g.6718280T>C | CA9129838 | C3 | n.461A>G c.277A>G (p.Thr93Ala) c.400A>G (p.Thr134Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.6718280T>G | CA403645090 | C3 | n.461A>C c.277A>C (p.Thr93Pro) c.400A>C (p.Thr134Pro) | |
| 19 | g.6718280T= | CA2320570610 | C3 | n.461A= c.277A= (p.Thr93=) c.400A= (p.Thr134=) | |
| 19 | g.6718281C>A | CA403645091 | C3 | n.460G>T c.276G>T (p.Gln92His) c.399G>T (p.Gln133His) | |
| 19 | g.6718281C= | CA2320570611 | C3 | n.460G= c.276G= (p.Gln92=) c.399G= (p.Gln133=) | |
| 19 | g.6718281C>G | CA403645092 | C3 | n.460G>C c.276G>C (p.Gln92His) c.399G>C (p.Gln133His) | |
| 19 | g.6718281C>T | CA505125147 | C3 | n.460G>A c.276G>A (p.Gln92=) c.399G>A (p.Gln133=) | dbSNP gnomAD v4 |
| 19 | g.6718282T>A | CA403645095 | C3 | n.459A>T c.275A>T (p.Gln92Leu) c.398A>T (p.Gln133Leu) | gnomAD v4 |
| 19 | g.6718282T>C | CA403645094 | C3 | n.459A>G c.275A>G (p.Gln92Arg) c.398A>G (p.Gln133Arg) | |
| 19 | g.6718282T>G | CA403645093 | C3 | n.459A>C c.275A>C (p.Gln92Pro) c.398A>C (p.Gln133Pro) | |
| 19 | g.6718284_6718287del | CA2587880777 | C3 | n.456_459del c.272_275del (p.Ile91ArgfsTer?) c.395_398del (p.Ile132ArgfsTer?) | gnomAD v4 |
| 19 | g.6718283G>A | CA403645096 | C3 | n.458C>T c.274C>T (p.Gln92Ter) c.397C>T (p.Gln133Ter) | |
| 19 | g.6718283G>C | CA403645098 | C3 | n.458C>G c.274C>G (p.Gln92Glu) c.397C>G (p.Gln133Glu) | |
| 19 | g.6718283G>T | CA403645097 | C3 | n.458C>A c.274C>A (p.Gln92Lys) c.397C>A (p.Gln133Lys) | |
| 19 | g.6718284G>A | CA505125148 | C3 | n.457C>T c.273C>T (p.Ile91=) c.396C>T (p.Ile132=) | |
| 19 | g.6718284G>C | CA403645099 | C3 | n.457C>G c.273C>G (p.Ile91Met) c.396C>G (p.Ile132Met) | |
| 19 | g.6718284G>T | CA505125149 | C3 | n.457C>A c.273C>A (p.Ile91=) c.396C>A (p.Ile132=) | |
| 19 | g.6718285A>C | CA403645100 | C3 | n.456T>G c.272T>G (p.Ile91Ser) c.395T>G (p.Ile132Ser) | |
| 19 | g.6718285A>G | CA403645101 | C3 | n.456T>C c.272T>C (p.Ile91Thr) c.395T>C (p.Ile132Thr) | |
| 19 | g.6718285A>T | CA403645102 | C3 | n.456T>A c.272T>A (p.Ile91Asn) c.395T>A (p.Ile132Asn) | |
| 19 | g.6718286T>A | CA403645103 | C3 | n.455A>T c.271A>T (p.Ile91Phe) c.394A>T (p.Ile132Phe) | |
| 19 | g.6718286T>C | CA403645104 | C3 | n.455A>G c.271A>G (p.Ile91Val) c.394A>G (p.Ile132Val) | |
| 19 | g.6718286T>G | CA403645105 | C3 | n.455A>C c.271A>C (p.Ile91Leu) c.394A>C (p.Ile132Leu) | |
| 19 | g.6718287G>A | CA9129839 | C3 | n.454C>T c.270C>T (p.Phe90=) c.393C>T (p.Phe131=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.6718287G>C | CA403645106 | C3 | n.454C>G c.270C>G (p.Phe90Leu) c.393C>G (p.Phe131Leu) | |
| 19 | g.6718287G= | CA2320570612 | C3 | n.454C= c.270C= (p.Phe90=) c.393C= (p.Phe131=) | |
| 19 | g.6718287G>T | CA403645107 | C3 | n.454C>A c.270C>A (p.Phe90Leu) c.393C>A (p.Phe131Leu) | |
| 19 | g.6718288A>C | CA403645110 | C3 | n.453T>G c.269T>G (p.Phe90Cys) c.392T>G (p.Phe131Cys) | |
| 19 | g.6718288A>G | CA403645109 | C3 | n.453T>C c.269T>C (p.Phe90Ser) c.392T>C (p.Phe131Ser) | |
| 19 | g.6718288A>T | CA403645108 | C3 | n.453T>A c.269T>A (p.Phe90Tyr) c.392T>A (p.Phe131Tyr) | |
| 19 | g.6718289A>C | CA403645111 | C3 | n.452T>G c.268T>G (p.Phe90Val) c.391T>G (p.Phe131Val) | |
| 19 | g.6718289A>G | CA403645112 | C3 | n.452T>C c.268T>C (p.Phe90Leu) c.391T>C (p.Phe131Leu) | |
| 19 | g.6718289A>T | CA403645113 | C3 | n.452T>A c.268T>A (p.Phe90Ile) c.391T>A (p.Phe131Ile) | |
| 19 | g.6718290G>A | CA505125150 | C3 | n.451C>T c.267C>T (p.Leu89=) c.390C>T (p.Leu130=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.6718290G>C | CA505125151 | C3 | n.451C>G c.267C>G (p.Leu89=) c.390C>G (p.Leu130=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.6718290G= | CA2320570613 | C3 | n.451C= c.267C= (p.Leu89=) c.390C= (p.Leu130=) | |
| 19 | g.6718290G>T | CA505125152 | C3 | n.451C>A c.267C>A (p.Leu89=) c.390C>A (p.Leu130=) | |
| 19 | g.6718291A>C | CA403645114 | C3 | n.450T>G c.266T>G (p.Leu89Arg) c.389T>G (p.Leu130Arg) | |
| 19 | g.6718291A>G | CA403645115 | C3 | n.450T>C c.266T>C (p.Leu89Pro) c.389T>C (p.Leu130Pro) | |
| 19 | g.6718291A>T | CA403645116 | C3 | n.450T>A c.266T>A (p.Leu89His) c.389T>A (p.Leu130His) | |
| 19 | g.6718292G>A | CA403645117 | C3 | n.449C>T c.265C>T (p.Leu89Phe) c.388C>T (p.Leu130Phe) | |
| 19 | g.6718292G>C | CA9129840 | C3 | n.449C>G c.265C>G (p.Leu89Val) c.388C>G (p.Leu130Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.6718292G= | CA2320570614 | C3 | n.449C= c.265C= (p.Leu89=) c.388C= (p.Leu130=) | |
| 19 | g.6718292G>T | CA403645118 | C3 | n.449C>A c.265C>A (p.Leu89Ile) c.388C>A (p.Leu130Ile) | |
| 19 | g.6718293G>A | CA505125153 | C3 | n.448C>T c.264C>T (p.Tyr88=) c.387C>T (p.Tyr129=) | |
| 19 | g.6718293G>C | CA403645119 | C3 | n.448C>G c.264C>G (p.Tyr88Ter) c.387C>G (p.Tyr129Ter) | ClinVar dbSNP gnomAD v4 |
| 19 | g.6718293G>T | CA403645120 | C3 | n.448C>A c.264C>A (p.Tyr88Ter) c.387C>A (p.Tyr129Ter) | |
| 19 | g.6718294T>A | CA403645122 | C3 | n.447A>T c.263A>T (p.Tyr88Phe) c.386A>T (p.Tyr129Phe) | |
| 19 | g.6718294T>C | CA403645123 | C3 | n.447A>G c.263A>G (p.Tyr88Cys) c.386A>G (p.Tyr129Cys) | gnomAD v4 |
| 19 | g.6718294T>G | CA403645121 | C3 | n.447A>C c.263A>C (p.Tyr88Ser) c.386A>C (p.Tyr129Ser) | |
| 19 | g.6718295A>C | CA403645124 | C3 | n.446T>G c.262T>G (p.Tyr88Asp) c.385T>G (p.Tyr129Asp) | |
| 19 | g.6718295A>G | CA403645125 | C3 | n.446T>C c.262T>C (p.Tyr88His) c.385T>C (p.Tyr129His) | |
| 19 | g.6718295A>T | CA403645126 | C3 | n.446T>A c.262T>A (p.Tyr88Asn) c.385T>A (p.Tyr129Asn) | |
| 19 | g.6718295_6718296delinsAC | CA2320570615 | C3 | n.445_446delinsGT c.261_262delinsGT (p.Gly87=) c.384_385delinsGT (p.Gly128=) | |
| 19 | g.6718296C>A | CA505125154 | C3 | n.445G>T c.261G>T (p.Gly87=) c.384G>T (p.Gly128=) | |
| 19 | g.6718296C>G | CA505125155 | C3 | n.445G>C c.261G>C (p.Gly87=) c.384G>C (p.Gly128=) | |
| 19 | g.6718296C>T | CA505125156 | C3 | n.445G>A c.261G>A (p.Gly87=) c.384G>A (p.Gly128=) | gnomAD v4 |
| 19 | g.6718298del | CA2320570616 | C3 | n.445del c.261del (p.Tyr88ThrfsTer?) c.384del (p.Tyr129ThrfsTer?) | dbSNP |
| 19 | g.6718297C>A | CA403645127 | C3 | n.444G>T c.260G>T (p.Gly87Val) c.383G>T (p.Gly128Val) | |
| 19 | g.6718297C>G | CA403645128 | C3 | n.444G>C c.260G>C (p.Gly87Ala) c.383G>C (p.Gly128Ala) | gnomAD v4 |
| 19 | g.6718297C>T | CA403645129 | C3 | n.444G>A c.260G>A (p.Gly87Glu) c.383G>A (p.Gly128Glu) | |
| 19 | g.6718298C>A | CA403645132 | C3 | n.443G>T c.259G>T (p.Gly87Trp) c.382G>T (p.Gly128Trp) | |
| 19 | g.6718298C= | CA2320570617 | C3 | n.443G= c.259G= (p.Gly87=) c.382G= (p.Gly128=) | |
| 19 | g.6718298C>G | CA403645130 | C3 | n.443G>C c.259G>C (p.Gly87Arg) c.382G>C (p.Gly128Arg) | |
| 19 | g.6718298C>T | CA403645131 | C3 | n.443G>A c.259G>A (p.Gly87Arg) c.382G>A (p.Gly128Arg) | dbSNP gnomAD v4 |
| 19 | g.6718299G>A | CA505125157 | C3 | n.442C>T c.258C>T (p.Ser86=) c.381C>T (p.Ser127=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 19 | g.6718299G>C | CA403645133 | C3 | n.442C>G c.258C>G (p.Ser86Arg) c.381C>G (p.Ser127Arg) | |
| 19 | g.6718299G= | CA2320570618 | C3 | n.442C= c.258C= (p.Ser86=) c.381C= (p.Ser127=) | |
| 19 | g.6718299G>T | CA304803552 | C3 | n.442C>A c.258C>A (p.Ser86Arg) c.381C>A (p.Ser127Arg) | dbSNP |
| 19 | g.6718300C>A | CA403645134 | C3 | n.441G>T c.257G>T (p.Ser86Ile) c.380G>T (p.Ser127Ile) | |
| 19 | g.6718300C>G | CA403645135 | C3 | n.441G>C c.257G>C (p.Ser86Thr) c.380G>C (p.Ser127Thr) | gnomAD v4 |
| 19 | g.6718300C>T | CA403645136 | C3 | n.441G>A c.257G>A (p.Ser86Asn) c.380G>A (p.Ser127Asn) | |
| 19 | g.6718301T>A | CA403645137 | C3 | n.440A>T c.256A>T (p.Ser86Cys) c.379A>T (p.Ser127Cys) | |
| 19 | g.6718301T>C | CA403645139 | C3 | n.440A>G c.256A>G (p.Ser86Gly) c.379A>G (p.Ser127Gly) | |
| 19 | g.6718301T>G | CA403645138 | C3 | n.440A>C c.256A>C (p.Ser86Arg) c.379A>C (p.Ser127Arg) | |
| 19 | g.6718302C>A | CA403645140 | C3 | n.439G>T c.255G>T (p.Gln85His) c.378G>T (p.Gln126His) | |
| 19 | g.6718302C>G | CA403645141 | C3 | n.439G>C c.255G>C (p.Gln85His) c.378G>C (p.Gln126His) | |
| 19 | g.6718302C>T | CA505125158 | C3 | n.439G>A c.255G>A (p.Gln85=) c.378G>A (p.Gln126=) | |
| 19 | g.6718303T>A | CA403645142 | C3 | n.438A>T c.254A>T (p.Gln85Leu) c.377A>T (p.Gln126Leu) | |
| 19 | g.6718303T>C | CA403645143 | C3 | n.438A>G c.254A>G (p.Gln85Arg) c.377A>G (p.Gln126Arg) | dbSNP |
| 19 | g.6718303T>G | CA403645144 | C3 | n.438A>C c.254A>C (p.Gln85Pro) c.377A>C (p.Gln126Pro) | |
| 19 | g.6718303T= | CA2320570619 | C3 | n.438A= c.254A= (p.Gln85=) c.377A= (p.Gln126=) | |
| 19 | g.6718304G>A | CA403645145 | C3 | n.437C>T c.253C>T (p.Gln85Ter) c.376C>T (p.Gln126Ter) | gnomAD v4 |
| 19 | g.6718304G>C | CA403645146 | C3 | n.437C>G c.253C>G (p.Gln85Glu) c.376C>G (p.Gln126Glu) | |
| 19 | g.6718304G>T | CA403645147 | C3 | n.437C>A c.253C>A (p.Gln85Lys) c.376C>A (p.Gln126Lys) | |
| 19 | g.6718305C>A | CA304803558 | C3 | n.436G>T c.252G>T (p.Leu84=) c.375G>T (p.Leu125=) | dbSNP gnomAD v4 |
| 19 | g.6718305C= | CA2320570620 | C3 | n.436G= c.252G= (p.Leu84=) c.375G= (p.Leu125=) | |
| 19 | g.6718305C>G | CA505125159 | C3 | n.436G>C c.252G>C (p.Leu84=) c.375G>C (p.Leu125=) | dbSNP |
| 19 | g.6718305C>T | CA505125160 | C3 | n.436G>A c.252G>A (p.Leu84=) c.375G>A (p.Leu125=) | |
| 19 | g.6718306A= | CA2320570621 | C3 | n.435T= c.251T= (p.Leu84=) c.374T= (p.Leu125=) | |
| 19 | g.6718306A>C | CA403645148 | C3 | n.435T>G c.251T>G (p.Leu84Arg) c.374T>G (p.Leu125Arg) | |
| 19 | g.6718306A>G | CA403645149 | C3 | n.435T>C c.251T>C (p.Leu84Pro) c.374T>C (p.Leu125Pro) | gnomAD v4 |
| 19 | g.6718306A>T | CA403645150 | C3 | n.435T>A c.251T>A (p.Leu84Gln) c.374T>A (p.Leu125Gln) | |
| 19 | g.6718307G>A | CA505125161 | C3 | n.434C>T c.250C>T (p.Leu84=) c.373C>T (p.Leu125=) | dbSNP |
| 19 | g.6718307G>C | CA403645152 | C3 | n.434C>G c.250C>G (p.Leu84Val) c.373C>G (p.Leu125Val) | |
| 19 | g.6718307G= | CA2320570622 | C3 | n.434C= c.250C= (p.Leu84=) c.373C= (p.Leu125=) | |
| 19 | g.6718307G>T | CA403645151 | C3 | n.434C>A c.250C>A (p.Leu84Met) c.373C>A (p.Leu125Met) | |
| 19 | g.6718308dup | CA631663706 | C3 | n.434dup c.250dup (p.Leu84ProfsTer?) c.373dup (p.Leu125ProfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.6718308G>A | CA505125162 | C3 | n.433C>T c.249C>T (p.Ser83=) c.372C>T (p.Ser124=) | |
| 19 | g.6718308G>C | CA403645153 | C3 | n.433C>G c.249C>G (p.Ser83Arg) c.372C>G (p.Ser124Arg) | |
| 19 | g.6718308G>T | CA403645154 | C3 | n.433C>A c.249C>A (p.Ser83Arg) c.372C>A (p.Ser124Arg) | |
| 19 | g.6718309C>A | CA403645155 | C3 | n.432G>T c.248G>T (p.Ser83Ile) c.371G>T (p.Ser124Ile) | |
| 19 | g.6718309C= | CA2320570623 | C3 | n.432G= c.248G= (p.Ser83=) c.371G= (p.Ser124=) | |
| 19 | g.6718309C>G | CA403645156 | C3 | n.432G>C c.248G>C (p.Ser83Thr) c.371G>C (p.Ser124Thr) | |
| 19 | g.6718309C>T | CA9129841 | C3 | n.432G>A c.248G>A (p.Ser83Asn) c.371G>A (p.Ser124Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.6718310T>A | CA403645157 | C3 | n.431A>T c.247A>T (p.Ser83Cys) c.370A>T (p.Ser124Cys) | |
| 19 | g.6718310T>C | CA304803604 | C3 | n.431A>G c.247A>G (p.Ser83Gly) c.370A>G (p.Ser124Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.6718310T>G | CA403645158 | C3 | n.431A>C c.247A>C (p.Ser83Arg) c.370A>C (p.Ser124Arg) | |
| 19 | g.6718310T= | CA2320570624 | C3 | n.431A= c.247A= (p.Ser83=) c.370A= (p.Ser124=) | |
| 19 | g.6718311G>A | CA505125165 | C3 | n.430C>T c.246C>T (p.Val82=) c.369C>T (p.Val123=) | |
| 19 | g.6718311G>C | CA505125164 | C3 | n.430C>G c.246C>G (p.Val82=) c.369C>G (p.Val123=) | |
| 19 | g.6718311G>T | CA505125163 | C3 | n.430C>A c.246C>A (p.Val82=) c.369C>A (p.Val123=) | |
| 19 | g.6718312A>C | CA403645159 | C3 | n.429T>G c.245T>G (p.Val82Gly) c.368T>G (p.Val123Gly) | |
| 19 | g.6718312A>G | CA403645160 | C3 | n.429T>C c.245T>C (p.Val82Ala) c.368T>C (p.Val123Ala) | |
| 19 | g.6718312A>T | CA403645161 | C3 | n.429T>A c.245T>A (p.Val82Asp) c.368T>A (p.Val123Asp) | |
| 19 | g.6718313C>A | CA403645162 | C3 | n.428G>T c.244G>T (p.Val82Phe) c.367G>T (p.Val123Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.6718313C= | CA2320570625 | C3 | n.428G= c.244G= (p.Val82=) c.367G= (p.Val123=) | |
| 19 | g.6718313C>G | CA403645163 | C3 | n.428G>C c.244G>C (p.Val82Leu) c.367G>C (p.Val123Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.6718313C>T | CA403645164 | C3 | n.428G>A c.244G>A (p.Val82Ile) c.367G>A (p.Val123Ile) | |
| 19 | g.6718314C>A | CA505125166 | C3 | n.427G>T c.243G>T (p.Leu81=) c.366G>T (p.Leu122=) | |
| 19 | g.6718314C>G | CA505125168 | C3 | n.427G>C c.243G>C (p.Leu81=) c.366G>C (p.Leu122=) | |
| 19 | g.6718314C>T | CA505125167 | C3 | n.427G>A c.243G>A (p.Leu81=) c.366G>A (p.Leu122=) | |
| 19 | g.6718315A= | CA2320570626 | C3 | n.426T= c.242T= (p.Leu81=) c.365T= (p.Leu122=) | |
| 19 | g.6718315A>C | CA403645165 | C3 | n.426T>G c.242T>G (p.Leu81Arg) c.365T>G (p.Leu122Arg) | ClinVar dbSNP |
| 19 | g.6718315A>G | CA304803613 | C3 | n.426T>C c.242T>C (p.Leu81Pro) c.365T>C (p.Leu122Pro) | dbSNP gnomAD v4 |
| 19 | g.6718315A>T | CA403645166 | C3 | n.426T>A c.242T>A (p.Leu81Gln) c.365T>A (p.Leu122Gln) | |
| 19 | g.6718316G>A | CA505125169 | C3 | n.425C>T c.241C>T (p.Leu81=) c.364C>T (p.Leu122=) | gnomAD v4 |
| 19 | g.6718316G>C | CA403645168 | C3 | n.425C>G c.241C>G (p.Leu81Val) c.364C>G (p.Leu122Val) | |
| 19 | g.6718316G>T | CA403645167 | C3 | n.425C>A c.241C>A (p.Leu81Met) c.364C>A (p.Leu122Met) | |
| 19 | g.6718317C>A | CA505125170 | C3 | n.424G>T c.240G>T (p.Val80=) c.363G>T (p.Val121=) | |
| 19 | g.6718317C>G | CA505125171 | C3 | n.424G>C c.240G>C (p.Val80=) c.363G>C (p.Val121=) | |
| 19 | g.6718317C>T | CA505125172 | C3 | n.424G>A c.240G>A (p.Val80=) c.363G>A (p.Val121=) | |
| 19 | g.6718318A>C | CA403645169 | C3 | n.423T>G c.239T>G (p.Val80Gly) c.362T>G (p.Val121Gly) | |
| 19 | g.6718318A>G | CA403645170 | C3 | n.423T>C c.239T>C (p.Val80Ala) c.362T>C (p.Val121Ala) | |
| 19 | g.6718318A>T | CA403645171 | C3 | n.423T>A c.239T>A (p.Val80Glu) c.362T>A (p.Val121Glu) | |
| 19 | g.6718319C>A | CA403645172 | C3 | n.422G>T c.238G>T (p.Val80Leu) c.361G>T (p.Val121Leu) | ClinVar dbSNP |
| 19 | g.6718319C>G | CA403645173 | C3 | n.422G>C c.238G>C (p.Val80Leu) c.361G>C (p.Val121Leu) | gnomAD v4 |
| 19 | g.6718319C>T | CA403645174 | C3 | n.422G>A c.238G>A (p.Val80Met) c.361G>A (p.Val121Met) | |
| 19 | g.6718320C>A | CA505125173 | C3 | n.421G>T c.237G>T (p.Val79=) c.360G>T (p.Val120=) | |
| 19 | g.6718320C>G | CA505125174 | C3 | n.421G>C c.237G>C (p.Val79=) c.360G>C (p.Val120=) | |
| 19 | g.6718320C>T | CA505125175 | C3 | n.421G>A c.237G>A (p.Val79=) c.360G>A (p.Val120=) | |
| 19 | g.6718321A>C | CA403645175 | C3 | n.420T>G c.236T>G (p.Val79Gly) c.359T>G (p.Val120Gly) | |
| 19 | g.6718321A>G | CA403645176 | C3 | n.420T>C c.236T>C (p.Val79Ala) c.359T>C (p.Val120Ala) | |
| 19 | g.6718321A>T | CA403645177 | C3 | n.420T>A c.236T>A (p.Val79Glu) c.359T>A (p.Val120Glu) | |
| 19 | g.6718322C>A | CA403645178 | C3 | n.419G>T c.235G>T (p.Val79Leu) c.358G>T (p.Val120Leu) | dbSNP gnomAD v4 |
| 19 | g.6718322C= | CA2320570627 | C3 | n.419G= c.235G= (p.Val79=) c.358G= (p.Val120=) | |
| 19 | g.6718322C>G | CA403645179 | C3 | n.419G>C c.235G>C (p.Val79Leu) c.358G>C (p.Val120Leu) | |
| 19 | g.6718322C>T | CA403645180 | C3 | n.419G>A c.235G>A (p.Val79Met) c.358G>A (p.Val120Met) | |
| 19 | g.6718323C>A | CA403645182 | C3 | n.418G>T c.234G>T (p.Lys78Asn) c.357G>T (p.Lys119Asn) | |
| 19 | g.6718323C>G | CA403645181 | C3 | n.418G>C c.234G>C (p.Lys78Asn) c.357G>C (p.Lys119Asn) | |
| 19 | g.6718323C>T | CA505125176 | C3 | n.418G>A c.234G>A (p.Lys78=) c.357G>A (p.Lys119=) | |
| 19 | g.6718324T>A | CA403645183 | C3 | n.417A>T c.233A>T (p.Lys78Met) c.356A>T (p.Lys119Met) | |
| 19 | g.6718324T>C | CA403645184 | C3 | n.417A>G c.233A>G (p.Lys78Arg) c.356A>G (p.Lys119Arg) | |
| 19 | g.6718324T>G | CA403645185 | C3 | n.417A>C c.233A>C (p.Lys78Thr) c.356A>C (p.Lys119Thr) | |
| 19 | g.6718325T>A | CA403645186 | C3 | n.416A>T c.232A>T (p.Lys78Ter) c.355A>T (p.Lys119Ter) | |
| 19 | g.6718325T>C | CA403645187 | C3 | n.416A>G c.232A>G (p.Lys78Glu) c.355A>G (p.Lys119Glu) | |
| 19 | g.6718325T>G | CA403645188 | C3 | n.416A>C c.232A>C (p.Lys78Gln) c.355A>C (p.Lys119Gln) | |
| 19 | g.6718326C>A | CA403645190 | C3 | n.415G>T c.231G>T (p.Glu77Asp) c.354G>T (p.Glu118Asp) | |
| 19 | g.6718326C>G | CA403645189 | C3 | n.415G>C c.231G>C (p.Glu77Asp) c.354G>C (p.Glu118Asp) | |
| 19 | g.6718326C>T | CA505125177 | C3 | n.415G>A c.231G>A (p.Glu77=) c.354G>A (p.Glu118=) | gnomAD v4 |
| 19 | g.6718327T>A | CA403645191 | C3 | n.414A>T c.230A>T (p.Glu77Val) c.353A>T (p.Glu118Val) | |
| 19 | g.6718327T>C | CA403645192 | C3 | n.414A>G c.230A>G (p.Glu77Gly) c.353A>G (p.Glu118Gly) | |
| 19 | g.6718327T>G | CA403645193 | C3 | n.414A>C c.230A>C (p.Glu77Ala) c.353A>C (p.Glu118Ala) | |
| 19 | g.6718328C>A | CA403645194 | C3 | n.413G>T c.229G>T (p.Glu77Ter) c.352G>T (p.Glu118Ter) | |
| 19 | g.6718328C>G | CA403645195 | C3 | n.413G>C c.229G>C (p.Glu77Gln) c.352G>C (p.Glu118Gln) | |
| 19 | g.6718328C>T | CA403645196 | C3 | n.413G>A c.229G>A (p.Glu77Lys) c.352G>A (p.Glu118Lys) | |
| 19 | g.6718329C>A | CA505125179 | C3 | n.412G>T c.228G>T (p.Val76=) c.351G>T (p.Val117=) | |
| 19 | g.6718329C>G | CA505125180 | C3 | n.412G>C c.228G>C (p.Val76=) c.351G>C (p.Val117=) | |
| 19 | g.6718329C>T | CA505125178 | C3 | n.412G>A c.228G>A (p.Val76=) c.351G>A (p.Val117=) | gnomAD v4 |
| 19 | g.6718330A>C | CA403645197 | C3 | n.411T>G c.227T>G (p.Val76Gly) c.350T>G (p.Val117Gly) | |
| 19 | g.6718330A>G | CA403645199 | C3 | n.411T>C c.227T>C (p.Val76Ala) c.350T>C (p.Val117Ala) | |
| 19 | g.6718330A>T | CA403645198 | C3 | n.411T>A c.227T>A (p.Val76Glu) c.350T>A (p.Val117Glu) | |
| 19 | g.6718331C>A | CA403645200 | C3 | n.410G>T c.226G>T (p.Val76Leu) c.349G>T (p.Val117Leu) | |
| 19 | g.6718331C>G | CA403645201 | C3 | n.410G>C c.226G>C (p.Val76Leu) c.349G>C (p.Val117Leu) | |
| 19 | g.6718331C>T | CA403645202 | C3 | n.410G>A c.226G>A (p.Val76Met) c.349G>A (p.Val117Met) | |
| 19 | g.6718332C>A | CA505125183 | C3 | n.409G>T c.225G>T (p.Val75=) c.348G>T (p.Val116=) | gnomAD v4 |
| 19 | g.6718332C>G | CA505125181 | C3 | n.409G>C c.225G>C (p.Val75=) c.348G>C (p.Val116=) | |
| 19 | g.6718332C>T | CA505125182 | C3 | n.409G>A c.225G>A (p.Val75=) c.348G>A (p.Val116=) | |
| 19 | g.6718333A>C | CA403645203 | C3 | n.408T>G c.224T>G (p.Val75Gly) c.347T>G (p.Val116Gly) | |
| 19 | g.6718333A>G | CA403645204 | C3 | n.408T>C c.224T>C (p.Val75Ala) c.347T>C (p.Val116Ala) | gnomAD v4 |
| 19 | g.6718333A>T | CA403645205 | C3 | n.408T>A c.224T>A (p.Val75Glu) c.347T>A (p.Val116Glu) | |
| 19 | g.6718334C>A | CA403645206 | C3 | n.407G>T c.223G>T (p.Val75Leu) c.346G>T (p.Val116Leu) | |
| 19 | g.6718334C>G | CA403645207 | C3 | n.407G>C c.223G>C (p.Val75Leu) c.346G>C (p.Val116Leu) | |
| 19 | g.6718334C>T | CA403645208 | C3 | n.407G>A c.223G>A (p.Val75Met) c.346G>A (p.Val116Met) | ClinVar |
| 19 | g.6718335T>A | CA403645209 | C3 | n.406A>T c.222A>T (p.Gln74His) c.345A>T (p.Gln115His) | gnomAD v4 |
| 19 | g.6718335T>C | CA505125184 | C3 | n.406A>G c.222A>G (p.Gln74=) c.345A>G (p.Gln115=) | |
| 19 | g.6718335T>G | CA403645210 | C3 | n.406A>C c.222A>C (p.Gln74His) c.345A>C (p.Gln115His) | |
| 19 | g.6718336T>A | CA403645213 | C3 | n.405A>T c.221A>T (p.Gln74Leu) c.344A>T (p.Gln115Leu) | |
| 19 | g.6718336T>C | CA403645212 | C3 | n.405A>G c.221A>G (p.Gln74Arg) c.344A>G (p.Gln115Arg) | |
| 19 | g.6718336T>G | CA403645211 | C3 | n.405A>C c.221A>C (p.Gln74Pro) c.344A>C (p.Gln115Pro) | |
| 19 | g.6718337G>A | CA403645214 | C3 | n.404C>T c.220C>T (p.Gln74Ter) c.343C>T (p.Gln115Ter) | |
| 19 | g.6718337G>C | CA403645216 | C3 | n.404C>G c.220C>G (p.Gln74Glu) c.343C>G (p.Gln115Glu) | |
| 19 | g.6718337G= | CA2320570628 | C3 | n.404C= c.220C= (p.Gln74=) c.343C= (p.Gln115=) | |
| 19 | g.6718337G>T | CA403645215 | C3 | n.404C>A c.220C>A (p.Gln74Lys) c.343C>A (p.Gln115Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.6718338G>A | CA505125185 | C3 | n.403C>T c.219C>T (p.Thr73=) c.342C>T (p.Thr114=) | dbSNP gnomAD v4 |
| 19 | g.6718338G>C | CA505125186 | C3 | n.403C>G c.219C>G (p.Thr73=) c.342C>G (p.Thr114=) | gnomAD v4 |
| 19 | g.6718338G= | CA2320570629 | C3 | n.403C= c.219C= (p.Thr73=) c.342C= (p.Thr114=) | |
| 19 | g.6718338G>T | CA505125187 | C3 | n.403C>A c.219C>A (p.Thr73=) c.342C>A (p.Thr114=) | |
| 19 | g.6718339G>A | CA9129842 | C3 | n.402C>T c.218C>T (p.Thr73Ile) c.341C>T (p.Thr114Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.6718339G>C | CA403645217 | C3 | n.402C>G c.218C>G (p.Thr73Ser) c.341C>G (p.Thr114Ser) | |
| 19 | g.6718339G= | CA2320570630 | C3 | n.402C= c.218C= (p.Thr73=) c.341C= (p.Thr114=) | |
| 19 | g.6718339G>T | CA403645218 | C3 | n.402C>A c.218C>A (p.Thr73Asn) c.341C>A (p.Thr114Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.6718340T>A | CA403645219 | C3 | n.401A>T c.217A>T (p.Thr73Ser) c.340A>T (p.Thr114Ser) | |
| 19 | g.6718340T>C | CA304803624 | C3 | n.401A>G c.217A>G (p.Thr73Ala) c.340A>G (p.Thr114Ala) | dbSNP gnomAD v4 |
| 19 | g.6718340T>G | CA403645220 | C3 | n.401A>C c.217A>C (p.Thr73Pro) c.340A>C (p.Thr114Pro) | COSMIC |
| 19 | g.6718340T= | CA2320570631 | C3 | n.401A= c.217A= (p.Thr73=) c.340A= (p.Thr114=) | |
| 19 | g.6718341C>A | CA505125188 | C3 | n.400G>T c.216G>T (p.Gly72=) c.339G>T (p.Gly113=) | |
| 19 | g.6718341C>G | CA505125189 | C3 | n.400G>C c.216G>C (p.Gly72=) c.339G>C (p.Gly113=) | |
| 19 | g.6718341C>T | CA505125190 | C3 | n.400G>A c.216G>A (p.Gly72=) c.339G>A (p.Gly113=) | |
| 19 | g.6718342C>A | CA403645221 | C3 | n.399G>T c.215G>T (p.Gly72Val) c.338G>T (p.Gly113Val) | |
| 19 | g.6718342C>G | CA403645222 | C3 | n.399G>C c.215G>C (p.Gly72Ala) c.338G>C (p.Gly113Ala) | |
| 19 | g.6718342C>T | CA403645223 | C3 | n.399G>A c.215G>A (p.Gly72Glu) c.338G>A (p.Gly113Glu) | |
| 19 | g.6718343C>A | CA403645224 | C3 | n.398G>T c.214G>T (p.Gly72Trp) c.337G>T (p.Gly113Trp) | |
| 19 | g.6718343C>G | CA403645225 | C3 | n.398G>C c.214G>C (p.Gly72Arg) c.337G>C (p.Gly113Arg) | |
| 19 | g.6718343C>T | CA403645226 | C3 | n.398G>A c.214G>A (p.Gly72Arg) c.337G>A (p.Gly113Arg) | |
| 19 | g.6718344G>A | CA505125191 | C3 | n.397C>T c.213C>T (p.Phe71=) c.336C>T (p.Phe112=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.6718344G>C | CA403645227 | C3 | n.397C>G c.213C>G (p.Phe71Leu) c.336C>G (p.Phe112Leu) | |
| 19 | g.6718344G= | CA2320570632 | C3 | n.397C= c.213C= (p.Phe71=) c.336C= (p.Phe112=) | |
| 19 | g.6718344G>T | CA403645228 | C3 | n.397C>A c.213C>A (p.Phe71Leu) c.336C>A (p.Phe112Leu) | |
| 19 | g.6718345A>C | CA403645229 | C3 | n.396T>G c.212T>G (p.Phe71Cys) c.335T>G (p.Phe112Cys) | |
| 19 | g.6718345A>G | CA403645230 | C3 | n.396T>C c.212T>C (p.Phe71Ser) c.335T>C (p.Phe112Ser) | |
| 19 | g.6718345A>T | CA403645231 | C3 | n.396T>A c.212T>A (p.Phe71Tyr) c.335T>A (p.Phe112Tyr) | |
| 19 | g.6718346A= | CA2320570633 | C3 | n.395T= c.211T= (p.Phe71=) c.334T= (p.Phe112=) | |
| 19 | g.6718346A>C | CA403645232 | C3 | n.395T>G c.211T>G (p.Phe71Val) c.334T>G (p.Phe112Val) | dbSNP |
| 19 | g.6718346A>G | CA403645233 | C3 | n.395T>C c.211T>C (p.Phe71Leu) c.334T>C (p.Phe112Leu) | |
| 19 | g.6718346A>T | CA403645234 | C3 | n.395T>A c.211T>A (p.Phe71Ile) c.334T>A (p.Phe112Ile) | |
| 19 | g.6718347G>A | CA505125192 | C3 | n.394C>T c.210C>T (p.Thr70=) c.333C>T (p.Thr111=) | |
| 19 | g.6718347G>C | CA505125193 | C3 | n.394C>G c.210C>G (p.Thr70=) c.333C>G (p.Thr111=) | |
| 19 | g.6718347G>T | CA505125194 | C3 | n.394C>A c.210C>A (p.Thr70=) c.333C>A (p.Thr111=) | |
| 19 | g.6718348G>A | CA403645235 | C3 | n.393C>T c.209C>T (p.Thr70Ile) c.332C>T (p.Thr111Ile) | |
| 19 | g.6718348G>C | CA403645236 | C3 | n.393C>G c.209C>G (p.Thr70Ser) c.332C>G (p.Thr111Ser) | gnomAD v4 |
| 19 | g.6718348G>T | CA403645237 | C3 | n.393C>A c.209C>A (p.Thr70Asn) c.332C>A (p.Thr111Asn) | |
| 19 | g.6718349T>A | CA403645238 | C3 | n.392A>T c.208A>T (p.Thr70Ser) c.331A>T (p.Thr111Ser) | |
| 19 | g.6718349T>C | CA403645239 | C3 | n.392A>G c.208A>G (p.Thr70Ala) c.331A>G (p.Thr111Ala) | |
| 19 | g.6718349T>G | CA403645240 | C3 | n.392A>C c.208A>C (p.Thr70Pro) c.331A>C (p.Thr111Pro) | |
| 19 | g.6718350G>A | CA9129843 | C3 | n.391C>T c.207C>T (p.Ala69=) c.330C>T (p.Ala110=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.6718350G>C | CA505125195 | C3 | n.391C>G c.207C>G (p.Ala69=) c.330C>G (p.Ala110=) | |
| 19 | g.6718350G= | CA2320570634 | C3 | n.391C= c.207C= (p.Ala69=) c.330C= (p.Ala110=) | |
| 19 | g.6718350G>T | CA505125196 | C3 | n.391C>A c.207C>A (p.Ala69=) c.330C>A (p.Ala110=) | |
| 19 | g.6718351G>A | CA403645241 | C3 | n.390C>T c.206C>T (p.Ala69Val) c.329C>T (p.Ala110Val) | |
| 19 | g.6718351G>C | CA403645243 | C3 | n.390C>G c.206C>G (p.Ala69Gly) c.329C>G (p.Ala110Gly) | |
| 19 | g.6718351G>T | CA403645242 | C3 | n.390C>A c.206C>A (p.Ala69Asp) c.329C>A (p.Ala110Asp) | |
| 19 | g.6718352C>A | CA403645244 | C3 | n.389G>T c.205G>T (p.Ala69Ser) c.328G>T (p.Ala110Ser) | |
| 19 | g.6718352C>G | CA403645245 | C3 | n.389G>C c.205G>C (p.Ala69Pro) c.328G>C (p.Ala110Pro) | |
| 19 | g.6718352C>T | CA403645246 | C3 | n.389G>A c.205G>A (p.Ala69Thr) c.328G>A (p.Ala110Thr) |