Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) |