Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.57564347T>A | CA511310790 | PCK1 | c.1140T>A (p.Gly380=) n.3268T>A n.264T>A c.744T>A (p.Gly248=) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.57564347T>C | CA9922284 | PCK1 | c.1140T>C (p.Gly380=) n.3268T>C n.264T>C c.744T>C (p.Gly248=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.57564347T>G | CA511310791 | PCK1 | c.1140T>G (p.Gly380=) n.3268T>G n.264T>G c.744T>G (p.Gly248=) | gnomAD v4 |
20 | g.57564347T= | CA2371897054 | PCK1 | c.1140T= (p.Gly380=) n.3268T= n.264T= c.744T= (p.Gly248=) | |
20 | g.57564348G>A | CA9922285 | PCK1 | c.1141G>A (p.Val381Ile) n.3269G>A n.265G>A c.745G>A (p.Val249Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
20 | g.57564348G>C | CA409436495 | PCK1 | c.1141G>C (p.Val381Leu) n.3269G>C n.265G>C c.745G>C (p.Val249Leu) | |
20 | g.57564348G= | CA2371897055 | PCK1 | c.1141G= (p.Val381=) n.3269G= n.265G= c.745G= (p.Val249=) | |
20 | g.57564348G>T | CA409436496 | PCK1 | c.1141G>T (p.Val381Phe) n.3269G>T n.265G>T c.745G>T (p.Val249Phe) | |
20 | g.57564349T>A | CA409436497 | PCK1 | c.1142T>A (p.Val381Asp) n.3270T>A n.266T>A c.746T>A (p.Val249Asp) | |
20 | g.57564349T>C | CA409436498 | PCK1 | c.1142T>C (p.Val381Ala) n.3270T>C n.266T>C c.746T>C (p.Val249Ala) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.57564349T>G | CA409436499 | PCK1 | c.1142T>G (p.Val381Gly) n.3270T>G n.266T>G c.746T>G (p.Val249Gly) | |
20 | g.57564349T= | CA2371897056 | PCK1 | c.1142T= (p.Val381=) n.3270T= n.266T= c.746T= (p.Val249=) | |
20 | g.57564350C>A | CA511310792 | PCK1 | c.1143C>A (p.Val381=) n.3271C>A n.267C>A c.747C>A (p.Val249=) | |
20 | g.57564350C>G | CA511310793 | PCK1 | c.1143C>G (p.Val381=) n.3271C>G n.267C>G c.747C>G (p.Val249=) | dbSNP |
20 | g.57564350C>T | CA511310794 | PCK1 | c.1143C>T (p.Val381=) n.3271C>T n.267C>T c.747C>T (p.Val249=) | dbSNP |
20 | g.57564351A>C | CA409436502 | PCK1 | c.1144A>C (p.Thr382Pro) n.3272A>C n.268A>C c.748A>C (p.Thr250Pro) | |
20 | g.57564351A>G | CA409436500 | PCK1 | c.1144A>G (p.Thr382Ala) n.3272A>G n.268A>G c.748A>G (p.Thr250Ala) | |
20 | g.57564351A>T | CA409436501 | PCK1 | c.1144A>T (p.Thr382Ser) n.3272A>T n.268A>T c.748A>T (p.Thr250Ser) | |
20 | g.57564351_57564352insTATG | CA2537424680 | PCK1 | c.1144_1145insTATG (p.Thr382IlefsTer9) n.3272_3273insTATG n.268_269insTATG c.748_749insTATG (p.Thr250IlefsTer9) | |
20 | g.57564352C>A | CA409436503 | PCK1 | c.1145C>A (p.Thr382Asn) n.3273C>A n.269C>A c.749C>A (p.Thr250Asn) | |
20 | g.57564352C>G | CA409436504 | PCK1 | c.1145C>G (p.Thr382Ser) n.3273C>G n.269C>G c.749C>G (p.Thr250Ser) | |
20 | g.57564352C>T | CA409436505 | PCK1 | c.1145C>T (p.Thr382Ile) n.3273C>T n.269C>T c.749C>T (p.Thr250Ile) | dbSNP |
20 | g.57564353C>A | CA511310795 | PCK1 | c.1146C>A (p.Thr382=) n.3274C>A n.270C>A c.750C>A (p.Thr250=) | |
20 | g.57564353C>G | CA511310796 | PCK1 | c.1146C>G (p.Thr382=) n.3274C>G n.270C>G c.750C>G (p.Thr250=) | |
20 | g.57564353C>T | CA511310797 | PCK1 | c.1146C>T (p.Thr382=) n.3274C>T n.270C>T c.750C>T (p.Thr250=) | |
20 | g.57564354A= | CA2371897057 | PCK1 | c.1147A= (p.Ile383=) n.3275A= n.271A= c.751A= (p.Ile251=) | |
20 | g.57564354A>C | CA409436506 | PCK1 | c.1147A>C (p.Ile383Leu) n.3275A>C n.271A>C c.751A>C (p.Ile251Leu) | |
20 | g.57564354A>G | CA409436507 | PCK1 | c.1147A>G (p.Ile383Val) n.3275A>G n.271A>G c.751A>G (p.Ile251Val) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.57564354A>T | CA9922286 | PCK1 | c.1147A>T (p.Ile383Phe) n.3275A>T n.271A>T c.751A>T (p.Ile251Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.57564355T>A | CA316280789 | PCK1 | c.1148T>A (p.Ile383Asn) n.3276T>A n.272T>A c.752T>A (p.Ile251Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.57564355T>C | CA409436508 | PCK1 | c.1148T>C (p.Ile383Thr) n.3276T>C n.272T>C c.752T>C (p.Ile251Thr) | gnomAD v4 |
20 | g.57564355T>G | CA409436509 | PCK1 | c.1148T>G (p.Ile383Ser) n.3276T>G n.272T>G c.752T>G (p.Ile251Ser) | dbSNP |
20 | g.57564355T= | CA2371897058 | PCK1 | c.1148T= (p.Ile383=) n.3276T= n.272T= c.752T= (p.Ile251=) | |
20 | g.57564356C>A | CA511310798 | PCK1 | c.1149C>A (p.Ile383=) n.3277C>A n.273C>A c.753C>A (p.Ile251=) | |
20 | g.57564356C>G | CA409436510 | PCK1 | c.1149C>G (p.Ile383Met) n.3277C>G n.273C>G c.753C>G (p.Ile251Met) | |
20 | g.57564356C>T | CA511310799 | PCK1 | c.1149C>T (p.Ile383=) n.3277C>T n.273C>T c.753C>T (p.Ile251=) | |
20 | g.57564357A>C | CA409436512 | PCK1 | c.1150A>C (p.Thr384Pro) n.3278A>C n.274A>C c.754A>C (p.Thr252Pro) | |
20 | g.57564357A>G | CA409436513 | PCK1 | c.1150A>G (p.Thr384Ala) n.3278A>G n.274A>G c.754A>G (p.Thr252Ala) | |
20 | g.57564357A>T | CA409436511 | PCK1 | c.1150A>T (p.Thr384Ser) n.3278A>T n.274A>T c.754A>T (p.Thr252Ser) | |
20 | g.57564358C>A | CA409436514 | PCK1 | c.1151C>A (p.Thr384Lys) n.3279C>A n.275C>A c.755C>A (p.Thr252Lys) | dbSNP gnomAD v4 COSMIC |
20 | g.57564358C= | CA2371897059 | PCK1 | c.1151C= (p.Thr384=) n.3279C= n.275C= c.755C= (p.Thr252=) | |
20 | g.57564358C>G | CA409436515 | PCK1 | c.1151C>G (p.Thr384Arg) n.3279C>G n.275C>G c.755C>G (p.Thr252Arg) | |
20 | g.57564358C>T | CA409436516 | PCK1 | c.1151C>T (p.Thr384Met) n.3279C>T n.275C>T c.755C>T (p.Thr252Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
20 | g.57564359G>A | CA9922287 | PCK1 | c.1152G>A (p.Thr384=) n.3280G>A n.276G>A c.756G>A (p.Thr252=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
20 | g.57564359G>C | CA511310800 | PCK1 | c.1152G>C (p.Thr384=) n.3280G>C n.276G>C c.756G>C (p.Thr252=) | |
20 | g.57564359G= | CA2371897060 | PCK1 | c.1152G= (p.Thr384=) n.3280G= n.276G= c.756G= (p.Thr252=) | |
20 | g.57564359G>T | CA511310801 | PCK1 | c.1152G>T (p.Thr384=) n.3280G>T n.276G>T c.756G>T (p.Thr252=) | |
20 | g.57564360T>A | CA409436519 | PCK1 | c.1153T>A (p.Ser385Thr) n.3281T>A n.277T>A c.757T>A (p.Ser253Thr) | dbSNP |
20 | g.57564360T>C | CA409436518 | PCK1 | c.1153T>C (p.Ser385Pro) n.3281T>C n.277T>C c.757T>C (p.Ser253Pro) | gnomAD v4 |
20 | g.57564360T>G | CA409436517 | PCK1 | c.1153T>G (p.Ser385Ala) n.3281T>G n.277T>G c.757T>G (p.Ser253Ala) |