Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.57562729G>A | CA409435015 | PCK1 | c.440G>A (p.Gly147Glu) n.1650G>A n.382G>A c.44G>A (p.Gly15Glu) | dbSNP |
20 | g.57562729G>C | CA409435016 | PCK1 | c.440G>C (p.Gly147Ala) n.1650G>C n.382G>C c.44G>C (p.Gly15Ala) | |
20 | g.57562729G= | CA2371896222 | PCK1 | c.440G= (p.Gly147=) n.1650G= n.382G= c.44G= (p.Gly15=) | |
20 | g.57562729G>T | CA409435017 | PCK1 | c.440G>T (p.Gly147Val) n.1650G>T n.382G>T c.44G>T (p.Gly15Val) | dbSNP |
20 | g.57562730G>A | CA511310834 | PCK1 | c.441G>A (p.Gly147=) n.1651G>A n.383G>A c.45G>A (p.Gly15=) | |
20 | g.57562730G>C | CA511310833 | PCK1 | c.441G>C (p.Gly147=) n.1651G>C n.383G>C c.45G>C (p.Gly15=) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.57562730G>T | CA511310832 | PCK1 | c.441G>T (p.Gly147=) n.1651G>T n.383G>T c.45G>T (p.Gly15=) | gnomAD v4 |
20 | g.57562731C>A | CA9922012 | PCK1 | c.442C>A (p.Pro148Thr) n.1652C>A n.384C>A c.46C>A (p.Pro16Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.57562731C= | CA2371896223 | PCK1 | c.442C= (p.Pro148=) n.1652C= n.384C= c.46C= (p.Pro16=) | |
20 | g.57562731C>G | CA409435018 | PCK1 | c.442C>G (p.Pro148Ala) n.1652C>G n.384C>G c.46C>G (p.Pro16Ala) | |
20 | g.57562731C>T | CA409435019 | PCK1 | c.442C>T (p.Pro148Ser) n.1652C>T n.384C>T c.46C>T (p.Pro16Ser) | dbSNP gnomAD v4 |
20 | g.57562732C>A | CA409435020 | PCK1 | c.443C>A (p.Pro148Gln) n.1653C>A n.385C>A c.47C>A (p.Pro16Gln) | gnomAD v4 |
20 | g.57562732C= | CA2371896224 | PCK1 | c.443C= (p.Pro148=) n.1653C= n.385C= c.47C= (p.Pro16=) | |
20 | g.57562732C>G | CA409435021 | PCK1 | c.443C>G (p.Pro148Arg) n.1653C>G n.385C>G c.47C>G (p.Pro16Arg) | |
20 | g.57562732C>T | CA9922013 | PCK1 | c.443C>T (p.Pro148Leu) n.1653C>T n.385C>T c.47C>T (p.Pro16Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.57562733G>A | CA9922014 | PCK1 | c.444G>A (p.Pro148=) n.1654G>A n.386G>A c.48G>A (p.Pro16=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.57562733G>C | CA511310836 | PCK1 | c.444G>C (p.Pro148=) n.1654G>C n.386G>C c.48G>C (p.Pro16=) | |
20 | g.57562733G= | CA2371896225 | PCK1 | c.444G= (p.Pro148=) n.1654G= n.386G= c.48G= (p.Pro16=) | |
20 | g.57562733G>T | CA511310835 | PCK1 | c.444G>T (p.Pro148=) n.1654G>T n.386G>T c.48G>T (p.Pro16=) | dbSNP |
20 | g.57562734C>A | CA409435022 | PCK1 | c.445C>A (p.Leu149Met) n.1655C>A n.387C>A c.49C>A (p.Leu17Met) | |
20 | g.57562734C>G | CA409435023 | PCK1 | c.445C>G (p.Leu149Val) n.1655C>G n.387C>G c.49C>G (p.Leu17Val) | |
20 | g.57562734C>T | CA511310837 | PCK1 | c.445C>T (p.Leu149=) n.1655C>T n.387C>T c.49C>T (p.Leu17=) | |
20 | g.57562735T>A | CA409435025 | PCK1 | c.446T>A (p.Leu149Gln) n.1656T>A n.388T>A c.50T>A (p.Leu17Gln) | |
20 | g.57562735T>C | CA409435026 | PCK1 | c.446T>C (p.Leu149Pro) n.1656T>C n.388T>C c.50T>C (p.Leu17Pro) | dbSNP |
20 | g.57562735T>G | CA409435024 | PCK1 | c.446T>G (p.Leu149Arg) n.1656T>G n.388T>G c.50T>G (p.Leu17Arg) | |
20 | g.57562735T= | CA2371896226 | PCK1 | c.446T= (p.Leu149=) n.1656T= n.388T= c.50T= (p.Leu17=) | |
20 | g.57562736G>A | CA511310838 | PCK1 | c.447G>A (p.Leu149=) n.1657G>A n.389G>A c.51G>A (p.Leu17=) | COSMIC COSMIC |
20 | g.57562736G>C | CA511310840 | PCK1 | c.447G>C (p.Leu149=) n.1657G>C n.389G>C c.51G>C (p.Leu17=) | |
20 | g.57562736G>T | CA511310839 | PCK1 | c.447G>T (p.Leu149=) n.1657G>T n.389G>T c.51G>T (p.Leu17=) | dbSNP |
20 | g.57562737G>A | CA409435028 | PCK1 | c.448G>A (p.Gly150Ser) n.1658G>A n.390G>A c.52G>A (p.Gly18Ser) | gnomAD v4 |
20 | g.57562737G>C | CA409435027 | PCK1 | c.448G>C (p.Gly150Arg) n.1658G>C n.390G>C c.52G>C (p.Gly18Arg) | |
20 | g.57562737G>T | CA409435029 | PCK1 | c.448G>T (p.Gly150Cys) n.1658G>T n.390G>T c.52G>T (p.Gly18Cys) | COSMIC COSMIC |
20 | g.57562738G>A | CA409435030 | PCK1 | c.449G>A (p.Gly150Asp) n.1659G>A n.391G>A c.53G>A (p.Gly18Asp) | dbSNP |
20 | g.57562738G>C | CA409435032 | PCK1 | c.449G>C (p.Gly150Ala) n.1659G>C n.391G>C c.53G>C (p.Gly18Ala) | |
20 | g.57562738G= | CA2371896227 | PCK1 | c.449G= (p.Gly150=) n.1659G= n.391G= c.53G= (p.Gly18=) | |
20 | g.57562738G>T | CA409435031 | PCK1 | c.449G>T (p.Gly150Val) n.1659G>T n.391G>T c.53G>T (p.Gly18Val) | dbSNP |
20 | g.57562738_57562739insTGGCGAGAT | CA1018823151 | PCK1 | c.449_450insTGGCGAGAT (p.Gly150_Ser151insGlyGluIle) n.1659_1660insTGGCGAGAT n.391_392insTGGCGAGAT c.53_54insTGGCGAGAT (p.Gly18_Ser19insGlyGluIle) | gnomAD v3 gnomAD v4 |
20 | g.57562739C>A | CA511310841 | PCK1 | c.450C>A (p.Gly150=) n.1660C>A n.392C>A c.54C>A (p.Gly18=) | |
20 | g.57562739C= | CA2371896228 | PCK1 | c.450C= (p.Gly150=) n.1660C= n.392C= c.54C= (p.Gly18=) | |
20 | g.57562739C>G | CA511310842 | PCK1 | c.450C>G (p.Gly150=) n.1660C>G n.392C>G c.54C>G (p.Gly18=) | gnomAD v4 |
20 | g.57562739C>T | CA511310843 | PCK1 | c.450C>T (p.Gly150=) n.1660C>T n.392C>T c.54C>T (p.Gly18=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.57562739_57562740insAGCAAAATC | CA2554746200 | PCK1 | c.450_451insAGCAAAATC (p.Gly150_Ser151insSerLysIle) n.1660_1661insAGCAAAATC n.392_393insAGCAAAATC c.54_55insAGCAAAATC (p.Gly18_Ser19insSerLysIle) | |
20 | g.57562739_57562740insAGCAAGATC | CA2536468544 | PCK1 | c.450_451insAGCAAGATC (p.Gly150_Ser151insSerLysIle) n.1660_1661insAGCAAGATC n.392_393insAGCAAGATC c.54_55insAGCAAGATC (p.Gly18_Ser19insSerLysIle) | gnomAD v4 |
20 | g.57562739_57562740insGGCGAGATC | CA2572828268 | PCK1 | c.450_451insGGCGAGATC (p.Gly150_Ser151insGlyGluIle) n.1660_1661insGGCGAGATC n.392_393insGGCGAGATC c.54_55insGGCGAGATC (p.Gly18_Ser19insGlyGluIle) | gnomAD v4 |
20 | g.57562739_57562740insGGTGAGATC | CA2554746559 | PCK1 | c.450_451insGGTGAGATC (p.Gly150_Ser151insGlyGluIle) n.1660_1661insGGTGAGATC n.392_393insGGTGAGATC c.54_55insGGTGAGATC (p.Gly18_Ser19insGlyGluIle) | |
20 | g.57562740del | CA2537072696 | PCK1 | c.451del (p.Ser151ArgfsTer10) n.1661del n.393del c.55del (p.Ser19ArgfsTer10) | |
20 | g.57562740T>A | CA9922015 | PCK1 | c.451T>A (p.Ser151Thr) n.1661T>A n.393T>A c.55T>A (p.Ser19Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.57562740T>C | CA409435033 | PCK1 | c.451T>C (p.Ser151Pro) n.1661T>C n.393T>C c.55T>C (p.Ser19Pro) | |
20 | g.57562740T>G | CA409435034 | PCK1 | c.451T>G (p.Ser151Ala) n.1661T>G n.393T>G c.55T>G (p.Ser19Ala) | |
20 | g.57562740T= | CA2371896229 | PCK1 | c.451T= (p.Ser151=) n.1661T= n.393T= c.55T= (p.Ser19=) | |
20 | g.57562741C>A | CA409435035 | PCK1 | c.452C>A (p.Ser151Ter) n.1662C>A n.394C>A c.56C>A (p.Ser19Ter) | |
20 | g.57562741C= | CA2371896230 | PCK1 | c.452C= (p.Ser151=) n.1662C= n.394C= c.56C= (p.Ser19=) | |
20 | g.57562741C>G | CA409435036 | PCK1 | c.452C>G (p.Ser151Trp) n.1662C>G n.394C>G c.56C>G (p.Ser19Trp) | |
20 | g.57562741C>T | CA9922016 | PCK1 | c.452C>T (p.Ser151Leu) n.1662C>T n.394C>T c.56C>T (p.Ser19Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.57562742G>A | CA9922017 | PCK1 | c.453G>A (p.Ser151=) n.1663G>A n.395G>A c.57G>A (p.Ser19=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.57562742G>C | CA511310844 | PCK1 | c.453G>C (p.Ser151=) n.1663G>C n.395G>C c.57G>C (p.Ser19=) | gnomAD v4 |
20 | g.57562742G= | CA2371896231 | PCK1 | c.453G= (p.Ser151=) n.1663G= n.395G= c.57G= (p.Ser19=) | |
20 | g.57562742G>T | CA511310845 | PCK1 | c.453G>T (p.Ser151=) n.1663G>T n.395G>T c.57G>T (p.Ser19=) | |
20 | g.57562743C>A | CA409435037 | PCK1 | c.454C>A (p.Pro152Thr) n.1664C>A n.396C>A c.58C>A (p.Pro20Thr) | |
20 | g.57562743C>G | CA409435038 | PCK1 | c.454C>G (p.Pro152Ala) n.1664C>G n.396C>G c.58C>G (p.Pro20Ala) | |
20 | g.57562743C>T | CA409435039 | PCK1 | c.454C>T (p.Pro152Ser) n.1664C>T n.396C>T c.58C>T (p.Pro20Ser) | |
20 | g.57562744C>A | CA409435040 | PCK1 | c.455C>A (p.Pro152His) n.1665C>A n.397C>A c.59C>A (p.Pro20His) | |
20 | g.57562744C= | CA2371896232 | PCK1 | c.455C= (p.Pro152=) n.1665C= n.397C= c.59C= (p.Pro20=) | |
20 | g.57562744C>G | CA409435041 | PCK1 | c.455C>G (p.Pro152Arg) n.1665C>G n.397C>G c.59C>G (p.Pro20Arg) | |
20 | g.57562744C>T | CA409435042 | PCK1 | c.455C>T (p.Pro152Leu) n.1665C>T n.397C>T c.59C>T (p.Pro20Leu) | dbSNP |
20 | g.57562744_57562752del | CA1018823161 | PCK1 | c.455_463del (p.Pro152_Lys155delinsGln) n.1665_1673del n.397_405del c.59_67del (p.Pro20_Lys23delinsGln) | gnomAD v3 gnomAD v4 |
20 | g.57562744_57562745insCCA | CA2502733023 | PCK1 | c.455_456insCCA (p.Pro152_Leu153insHis) n.1665_1666insCCA n.397_398insCCA c.59_60insCCA (p.Pro20_Leu21insHis) | |
20 | g.57562745T>A | CA511310846 | PCK1 | c.456T>A (p.Pro152=) n.1666T>A n.398T>A c.60T>A (p.Pro20=) | |
20 | g.57562745T>C | CA511310847 | PCK1 | c.456T>C (p.Pro152=) n.1666T>C n.398T>C c.60T>C (p.Pro20=) | gnomAD v4 |
20 | g.57562745T>G | CA511310848 | PCK1 | c.456T>G (p.Pro152=) n.1666T>G n.398T>G c.60T>G (p.Pro20=) | dbSNP |
20 | g.57562746C>A | CA409435044 | PCK1 | c.457C>A (p.Leu153Met) n.1667C>A n.399C>A c.61C>A (p.Leu21Met) | |
20 | g.57562746C= | CA2371896233 | PCK1 | c.457C= (p.Leu153=) n.1667C= n.399C= c.61C= (p.Leu21=) | |
20 | g.57562746C>G | CA409435043 | PCK1 | c.457C>G (p.Leu153Val) n.1667C>G n.399C>G c.61C>G (p.Leu21Val) | dbSNP |
20 | g.57562746C>T | CA511310849 | PCK1 | c.457C>T (p.Leu153=) n.1667C>T n.399C>T c.61C>T (p.Leu21=) | gnomAD v4 |
20 | g.57562747T>A | CA409435045 | PCK1 | c.458T>A (p.Leu153Gln) n.1668T>A n.400T>A c.62T>A (p.Leu21Gln) | |
20 | g.57562747T>C | CA409435046 | PCK1 | c.458T>C (p.Leu153Pro) n.1668T>C n.400T>C c.62T>C (p.Leu21Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.57562747T>G | CA409435047 | PCK1 | c.458T>G (p.Leu153Arg) n.1668T>G n.400T>G c.62T>G (p.Leu21Arg) | |
20 | g.57562747T= | CA2371896234 | PCK1 | c.458T= (p.Leu153=) n.1668T= n.400T= c.62T= (p.Leu21=) | |
20 | g.57562748_57562749del | CA2566564931 | PCK1 | c.459_460del (p.Ser154LysfsTer?) n.1669_1670del n.401_402del c.63_64del (p.Ser22LysfsTer?) | |
20 | g.57562748G>A | CA511310850 | PCK1 | c.459G>A (p.Leu153=) n.1669G>A n.401G>A c.63G>A (p.Leu21=) | |
20 | g.57562748G>C | CA511310851 | PCK1 | c.459G>C (p.Leu153=) n.1669G>C n.401G>C c.63G>C (p.Leu21=) | gnomAD v4 |
20 | g.57562748G>T | CA511310852 | PCK1 | c.459G>T (p.Leu153=) n.1669G>T n.401G>T c.63G>T (p.Leu21=) | dbSNP |
20 | g.57562749T>A | CA409435048 | PCK1 | c.460T>A (p.Ser154Thr) n.1670T>A n.402T>A c.64T>A (p.Ser22Thr) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.57562749T>C | CA409435049 | PCK1 | c.460T>C (p.Ser154Pro) n.1670T>C n.402T>C c.64T>C (p.Ser22Pro) | |
20 | g.57562749T>G | CA409435050 | PCK1 | c.460T>G (p.Ser154Ala) n.1670T>G n.402T>G c.64T>G (p.Ser22Ala) | dbSNP |
20 | g.57562749T= | CA2371896235 | PCK1 | c.460T= (p.Ser154=) n.1670T= n.402T= c.64T= (p.Ser22=) | |
20 | g.57562750C>A | CA409435051 | PCK1 | c.461C>A (p.Ser154Ter) n.1671C>A n.403C>A c.65C>A (p.Ser22Ter) | gnomAD v4 |
20 | g.57562750C= | CA2371896236 | PCK1 | c.461C= (p.Ser154=) n.1671C= n.403C= c.65C= (p.Ser22=) | |
20 | g.57562750C>G | CA409435052 | PCK1 | c.461C>G (p.Ser154Ter) n.1671C>G n.403C>G c.65C>G (p.Ser22Ter) | gnomAD v4 |
20 | g.57562750C>T | CA9922018 | PCK1 | c.461C>T (p.Ser154Leu) n.1671C>T n.403C>T c.65C>T (p.Ser22Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.57562751A= | CA2371896237 | PCK1 | c.462A= (p.Ser154=) n.1672A= n.404A= c.66A= (p.Ser22=) | |
20 | g.57562751A>C | CA511310853 | PCK1 | c.462A>C (p.Ser154=) n.1672A>C n.404A>C c.66A>C (p.Ser22=) | dbSNP |
20 | g.57562751A>G | CA9922019 | PCK1 | c.462A>G (p.Ser154=) n.1672A>G n.404A>G c.66A>G (p.Ser22=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.57562751A>T | CA511310854 | PCK1 | c.462A>T (p.Ser154=) n.1672A>T n.404A>T c.66A>T (p.Ser22=) | |
20 | g.57562753dup | CA511310855 | PCK1 | c.464dup (p.Ile156AspfsTer?) n.1674dup n.406dup c.68dup (p.Ile24AspfsTer?) | COSMIC |
20 | g.57562752A= | CA2371896238 | PCK1 | c.463A= (p.Lys155=) n.1673A= n.405A= c.67A= (p.Lys23=) | |
20 | g.57562752A>C | CA409435053 | PCK1 | c.463A>C (p.Lys155Gln) n.1673A>C n.405A>C c.67A>C (p.Lys23Gln) | |
20 | g.57562752A>G | CA9922020 | PCK1 | c.463A>G (p.Lys155Glu) n.1673A>G n.405A>G c.67A>G (p.Lys23Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.57562752A>T | CA409435054 | PCK1 | c.463A>T (p.Lys155Ter) n.1673A>T n.405A>T c.67A>T (p.Lys23Ter) | |
20 | g.57562753A= | CA2371896239 | PCK1 | c.464A= (p.Lys155=) n.1674A= n.406A= c.68A= (p.Lys23=) | |
20 | g.57562753A>C | CA409435055 | PCK1 | c.464A>C (p.Lys155Thr) n.1674A>C n.406A>C c.68A>C (p.Lys23Thr) | gnomAD v4 |
20 | g.57562753A>G | CA9922021 | PCK1 | c.464A>G (p.Lys155Arg) n.1674A>G n.406A>G c.68A>G (p.Lys23Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.57562753A>T | CA409435056 | PCK1 | c.464A>T (p.Lys155Met) n.1674A>T n.406A>T c.68A>T (p.Lys23Met) | |
20 | g.57562754G>A | CA511310856 | PCK1 | c.465G>A (p.Lys155=) n.1675G>A n.407G>A c.69G>A (p.Lys23=) | |
20 | g.57562754G>C | CA409435057 | PCK1 | c.465G>C (p.Lys155Asn) n.1675G>C n.407G>C c.69G>C (p.Lys23Asn) | gnomAD v4 |
20 | g.57562754G>T | CA409435058 | PCK1 | c.465G>T (p.Lys155Asn) n.1675G>T n.407G>T c.69G>T (p.Lys23Asn) | |
20 | g.57562755A= | CA2371896240 | PCK1 | c.466A= (p.Ile156=) n.1676A= n.408A= c.70A= (p.Ile24=) | |
20 | g.57562755A>C | CA409435059 | PCK1 | c.466A>C (p.Ile156Leu) n.1676A>C n.408A>C c.70A>C (p.Ile24Leu) | |
20 | g.57562755A>G | CA409435060 | PCK1 | c.466A>G (p.Ile156Val) n.1676A>G n.408A>G c.70A>G (p.Ile24Val) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.57562755A>T | CA9922022 | PCK1 | c.466A>T (p.Ile156Phe) n.1676A>T n.408A>T c.70A>T (p.Ile24Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.57562756T>A | CA9922023 | PCK1 | c.467T>A (p.Ile156Asn) n.1677T>A n.409T>A c.71T>A (p.Ile24Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.57562756T>C | CA409435061 | PCK1 | c.467T>C (p.Ile156Thr) n.1677T>C n.409T>C c.71T>C (p.Ile24Thr) | gnomAD v4 |
20 | g.57562756T>G | CA409435062 | PCK1 | c.467T>G (p.Ile156Ser) n.1677T>G n.409T>G c.71T>G (p.Ile24Ser) | |
20 | g.57562756T= | CA2371896241 | PCK1 | c.467T= (p.Ile156=) n.1677T= n.409T= c.71T= (p.Ile24=) | |
20 | g.57562757C>A | CA511310857 | PCK1 | c.468C>A (p.Ile156=) n.1678C>A n.410C>A c.72C>A (p.Ile24=) | gnomAD v4 |
20 | g.57562757C= | CA2371896242 | PCK1 | c.468C= (p.Ile156=) n.1678C= n.410C= c.72C= (p.Ile24=) | |
20 | g.57562757C>G | CA9922025 | PCK1 | c.468C>G (p.Ile156Met) n.1678C>G n.410C>G c.72C>G (p.Ile24Met) | dbSNP ExAC gnomAD v2 |
20 | g.57562757C>T | CA9922024 | PCK1 | c.468C>T (p.Ile156=) n.1678C>T n.410C>T c.72C>T (p.Ile24=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.57562758G>A | CA9922026 | PCK1 | c.469G>A (p.Gly157Ser) n.1679G>A n.411G>A c.73G>A (p.Gly25Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
20 | g.57562758G>C | CA409435064 | PCK1 | c.469G>C (p.Gly157Arg) n.1679G>C n.411G>C c.73G>C (p.Gly25Arg) | dbSNP gnomAD v4 |
20 | g.57562758G= | CA2371896243 | PCK1 | c.469G= (p.Gly157=) n.1679G= n.411G= c.73G= (p.Gly25=) | |
20 | g.57562758G>T | CA409435063 | PCK1 | c.469G>T (p.Gly157Cys) n.1679G>T n.411G>T c.73G>T (p.Gly25Cys) | |
20 | g.57562759G>A | CA316278862 | PCK1 | c.470G>A (p.Gly157Asp) n.1680G>A n.412G>A c.74G>A (p.Gly25Asp) | dbSNP |
20 | g.57562759G>C | CA409435065 | PCK1 | c.470G>C (p.Gly157Ala) n.1680G>C n.412G>C c.74G>C (p.Gly25Ala) | |
20 | g.57562759G= | CA2371896244 | PCK1 | c.470G= (p.Gly157=) n.1680G= n.412G= c.74G= (p.Gly25=) | |
20 | g.57562759G>T | CA409435066 | PCK1 | c.470G>T (p.Gly157Val) n.1680G>T n.412G>T c.74G>T (p.Gly25Val) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.57562760C>A | CA511310858 | PCK1 | c.471C>A (p.Gly157=) n.1681C>A n.413C>A c.75C>A (p.Gly25=) | dbSNP |
20 | g.57562760C= | CA2371896245 | PCK1 | c.471C= (p.Gly157=) n.1681C= n.413C= c.75C= (p.Gly25=) | |
20 | g.57562760C>G | CA511310859 | PCK1 | c.471C>G (p.Gly157=) n.1681C>G n.413C>G c.75C>G (p.Gly25=) | |
20 | g.57562760C>T | CA511310860 | PCK1 | c.471C>T (p.Gly157=) n.1681C>T n.413C>T c.75C>T (p.Gly25=) | dbSNP gnomAD v4 |
20 | g.57562761A= | CA2371896246 | PCK1 | c.472A= (p.Ile158=) n.1682A= n.414A= c.76A= (p.Ile26=) | |
20 | g.57562761A>C | CA409435067 | PCK1 | c.472A>C (p.Ile158Leu) n.1682A>C n.414A>C c.76A>C (p.Ile26Leu) | |
20 | g.57562761A>G | CA9922027 | PCK1 | c.472A>G (p.Ile158Val) n.1682A>G n.414A>G c.76A>G (p.Ile26Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.57562761A>T | CA409435068 | PCK1 | c.472A>T (p.Ile158Phe) n.1682A>T n.414A>T c.76A>T (p.Ile26Phe) | |
20 | g.57562762T>A | CA409435069 | PCK1 | c.473T>A (p.Ile158Asn) n.1683T>A n.415T>A c.77T>A (p.Ile26Asn) | |
20 | g.57562762T>C | CA409435070 | PCK1 | c.473T>C (p.Ile158Thr) n.1683T>C n.415T>C c.77T>C (p.Ile26Thr) | |
20 | g.57562762T>G | CA409435071 | PCK1 | c.473T>G (p.Ile158Ser) n.1683T>G n.415T>G c.77T>G (p.Ile26Ser) | |
20 | g.57562763C>A | CA9922030 | PCK1 | c.474C>A (p.Ile158=) n.1684C>A n.416C>A c.78C>A (p.Ile26=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
20 | g.57562763C= | CA2371896247 | PCK1 | c.474C= (p.Ile158=) n.1684C= n.416C= c.78C= (p.Ile26=) | |
20 | g.57562763C>G | CA9922029 | PCK1 | c.474C>G (p.Ile158Met) n.1684C>G n.416C>G c.78C>G (p.Ile26Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.57562763C>T | CA9922028 | PCK1 | c.474C>T (p.Ile158=) n.1684C>T n.416C>T c.78C>T (p.Ile26=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
20 | g.57562764G>A | CA316278902 | PCK1 | c.475G>A (p.Glu159Lys) n.1685G>A n.417G>A c.79G>A (p.Glu27Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
20 | g.57562764G>C | CA409435072 | PCK1 | c.475G>C (p.Glu159Gln) n.1685G>C n.417G>C c.79G>C (p.Glu27Gln) | gnomAD v4 |
20 | g.57562764G= | CA2371896248 | PCK1 | c.475G= (p.Glu159=) n.1685G= n.417G= c.79G= (p.Glu27=) | |
20 | g.57562764G>T | CA9922031 | PCK1 | c.475G>T (p.Glu159Ter) n.1685G>T n.417G>T c.79G>T (p.Glu27Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.57562765A= | CA2371896249 | PCK1 | c.476A= (p.Glu159=) n.1686A= n.418A= c.80A= (p.Glu27=) | |
20 | g.57562765A>C | CA409435075 | PCK1 | c.476A>C (p.Glu159Ala) n.1686A>C n.418A>C c.80A>C (p.Glu27Ala) | dbSNP gnomAD v4 |
20 | g.57562765A>G | CA409435073 | PCK1 | c.476A>G (p.Glu159Gly) n.1686A>G n.418A>G c.80A>G (p.Glu27Gly) | dbSNP gnomAD v4 |
20 | g.57562765A>T | CA409435074 | PCK1 | c.476A>T (p.Glu159Val) n.1686A>T n.418A>T c.80A>T (p.Glu27Val) | dbSNP |
20 | g.57562766G>A | CA511310861 | PCK1 | c.477G>A (p.Glu159=) n.1687G>A n.419G>A c.81G>A (p.Glu27=) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.57562766G>C | CA409435076 | PCK1 | c.477G>C (p.Glu159Asp) n.1687G>C n.419G>C c.81G>C (p.Glu27Asp) | |
20 | g.57562766G= | CA2371896250 | PCK1 | c.477G= (p.Glu159=) n.1687G= n.419G= c.81G= (p.Glu27=) | |
20 | g.57562766G>T | CA409435077 | PCK1 | c.477G>T (p.Glu159Asp) n.1687G>T n.419G>T c.81G>T (p.Glu27Asp) | |
20 | g.57562767C>A | CA409435078 | PCK1 | c.478C>A (p.Leu160Met) n.1688C>A n.420C>A c.82C>A (p.Leu28Met) | |
20 | g.57562767C>G | CA409435079 | PCK1 | c.478C>G (p.Leu160Val) n.1688C>G n.420C>G c.82C>G (p.Leu28Val) | |
20 | g.57562767C>T | CA511310862 | PCK1 | c.478C>T (p.Leu160=) n.1688C>T n.420C>T c.82C>T (p.Leu28=) | |
20 | g.57562768T>A | CA409435080 | PCK1 | c.479T>A (p.Leu160Gln) n.1689T>A n.421T>A c.83T>A (p.Leu28Gln) | |
20 | g.57562768T>C | CA409435081 | PCK1 | c.479T>C (p.Leu160Pro) n.1689T>C n.421T>C c.83T>C (p.Leu28Pro) | |
20 | g.57562768T>G | CA409435082 | PCK1 | c.479T>G (p.Leu160Arg) n.1689T>G n.421T>G c.83T>G (p.Leu28Arg) | |
20 | g.57562769G>A | CA511310863 | PCK1 | c.480G>A (p.Leu160=) n.1690G>A n.422G>A c.84G>A (p.Leu28=) | |
20 | g.57562769G>C | CA511310865 | PCK1 | c.480G>C (p.Leu160=) n.1690G>C n.422G>C c.84G>C (p.Leu28=) | |
20 | g.57562769G>T | CA511310864 | PCK1 | c.480G>T (p.Leu160=) n.1690G>T n.422G>T c.84G>T (p.Leu28=) | |
20 | g.57562770A= | CA2371896251 | PCK1 | c.481A= (p.Thr161=) n.1691A= n.423A= c.85A= (p.Thr29=) | |
20 | g.57562770A>C | CA409435083 | PCK1 | c.481A>C (p.Thr161Pro) n.1691A>C n.423A>C c.85A>C (p.Thr29Pro) | |
20 | g.57562770A>G | CA409435084 | PCK1 | c.481A>G (p.Thr161Ala) n.1691A>G n.423A>G c.85A>G (p.Thr29Ala) | gnomAD v4 |
20 | g.57562770A>T | CA409435085 | PCK1 | c.481A>T (p.Thr161Ser) n.1691A>T n.423A>T c.85A>T (p.Thr29Ser) | dbSNP |
20 | g.57562771C>A | CA409435087 | PCK1 | c.482C>A (p.Thr161Lys) n.1692C>A n.424C>A c.86C>A (p.Thr29Lys) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.57562771C= | CA2371896252 | PCK1 | c.482C= (p.Thr161=) n.1692C= n.424C= c.86C= (p.Thr29=) | |
20 | g.57562771C>G | CA409435086 | PCK1 | c.482C>G (p.Thr161Arg) n.1692C>G n.424C>G c.86C>G (p.Thr29Arg) | |
20 | g.57562771C>T | CA316278915 | PCK1 | c.482C>T (p.Thr161Met) n.1692C>T n.424C>T c.86C>T (p.Thr29Met) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
20 | g.57562772G>A | CA9922032 | PCK1 | c.483G>A (p.Thr161=) n.1693G>A n.425G>A c.87G>A (p.Thr29=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.57562772G>C | CA511310866 | PCK1 | c.483G>C (p.Thr161=) n.1693G>C n.425G>C c.87G>C (p.Thr29=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.57562772G= | CA2371896253 | PCK1 | c.483G= (p.Thr161=) n.1693G= n.425G= c.87G= (p.Thr29=) | |
20 | g.57562772G>T | CA511310867 | PCK1 | c.483G>T (p.Thr161=) n.1693G>T n.425G>T c.87G>T (p.Thr29=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.57562773G>A | CA409435088 | PCK1 | c.484G>A (p.Asp162Asn) n.1694G>A n.426G>A c.88G>A (p.Asp30Asn) | |
20 | g.57562773G>C | CA409435089 | PCK1 | c.484G>C (p.Asp162His) n.1694G>C n.426G>C c.88G>C (p.Asp30His) | dbSNP |
20 | g.57562773G= | CA2371896254 | PCK1 | c.484G= (p.Asp162=) n.1694G= n.426G= c.88G= (p.Asp30=) | |
20 | g.57562773G>T | CA409435090 | PCK1 | c.484G>T (p.Asp162Tyr) n.1694G>T n.426G>T c.88G>T (p.Asp30Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.57562774A>C | CA409435091 | PCK1 | c.485A>C (p.Asp162Ala) n.1695A>C n.427A>C c.89A>C (p.Asp30Ala) | |
20 | g.57562774A>G | CA409435092 | PCK1 | c.485A>G (p.Asp162Gly) n.1695A>G n.427A>G c.89A>G (p.Asp30Gly) | |
20 | g.57562774A>T | CA409435093 | PCK1 | c.485A>T (p.Asp162Val) n.1695A>T n.427A>T c.89A>T (p.Asp30Val) | |
20 | g.57562775T>A | CA409435094 | PCK1 | c.486T>A (p.Asp162Glu) n.1696T>A n.428T>A c.90T>A (p.Asp30Glu) | gnomAD v4 |
20 | g.57562775T>C | CA511310868 | PCK1 | c.486T>C (p.Asp162=) n.1696T>C n.428T>C c.90T>C (p.Asp30=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.57562775T>G | CA409435095 | PCK1 | c.486T>G (p.Asp162Glu) n.1696T>G n.428T>G c.90T>G (p.Asp30Glu) | gnomAD v4 |
20 | g.57562775T= | CA2371896255 | PCK1 | c.486T= (p.Asp162=) n.1696T= n.428T= c.90T= (p.Asp30=) | |
20 | g.57562776T>A | CA409435096 | PCK1 | c.487T>A (p.Ser163Thr) n.1697T>A n.429T>A c.91T>A (p.Ser31Thr) | |
20 | g.57562776T>C | CA409435097 | PCK1 | c.487T>C (p.Ser163Pro) n.1697T>C n.429T>C c.91T>C (p.Ser31Pro) | |
20 | g.57562776T>G | CA409435098 | PCK1 | c.487T>G (p.Ser163Ala) n.1697T>G n.429T>G c.91T>G (p.Ser31Ala) | |
20 | g.57562777C>A | CA409435100 | PCK1 | c.488C>A (p.Ser163Ter) n.1698C>A n.430C>A c.92C>A (p.Ser31Ter) | |
20 | g.57562777C= | CA2371896256 | PCK1 | c.488C= (p.Ser163=) n.1698C= n.430C= c.92C= (p.Ser31=) | |
20 | g.57562777C>G | CA409435099 | PCK1 | c.488C>G (p.Ser163Ter) n.1698C>G n.430C>G c.92C>G (p.Ser31Ter) | |
20 | g.57562777C>T | CA316278929 | PCK1 | c.488C>T (p.Ser163Leu) n.1698C>T n.430C>T c.92C>T (p.Ser31Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.57562778A= | CA2371896257 | PCK1 | c.489A= (p.Ser163=) n.1699A= n.431A= c.93A= (p.Ser31=) | |
20 | g.57562778A>C | CA511310870 | PCK1 | c.489A>C (p.Ser163=) n.1699A>C n.431A>C c.93A>C (p.Ser31=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.57562778A>G | CA9922033 | PCK1 | c.489A>G (p.Ser163=) n.1699A>G n.431A>G c.93A>G (p.Ser31=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.57562778A>T | CA511310869 | PCK1 | c.489A>T (p.Ser163=) n.1699A>T n.431A>T c.93A>T (p.Ser31=) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.57562779C>A | CA409435101 | PCK1 | c.490C>A (p.Pro164Thr) n.1700C>A n.432C>A c.94C>A (p.Pro32Thr) | |
20 | g.57562779C= | CA2371896258 | PCK1 | c.490C= (p.Pro164=) n.1700C= n.432C= c.94C= (p.Pro32=) | |
20 | g.57562779C>G | CA409435102 | PCK1 | c.490C>G (p.Pro164Ala) n.1700C>G n.432C>G c.94C>G (p.Pro32Ala) | dbSNP |
20 | g.57562779C>T | CA409435103 | PCK1 | c.490C>T (p.Pro164Ser) n.1700C>T n.432C>T c.94C>T (p.Pro32Ser) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.57562780C>A | CA409435104 | PCK1 | c.491C>A (p.Pro164His) n.1701C>A n.433C>A c.95C>A (p.Pro32His) | |
20 | g.57562780C>G | CA409435105 | PCK1 | c.491C>G (p.Pro164Arg) n.1701C>G n.433C>G c.95C>G (p.Pro32Arg) | |
20 | g.57562780C>T | CA409435106 | PCK1 | c.491C>T (p.Pro164Leu) n.1701C>T n.433C>T c.95C>T (p.Pro32Leu) | gnomAD v4 |
20 | g.57562781C>A | CA511310871 | PCK1 | c.492C>A (p.Pro164=) n.1702C>A n.434C>A c.96C>A (p.Pro32=) | dbSNP |
20 | g.57562781C= | CA2371896259 | PCK1 | c.492C= (p.Pro164=) n.1702C= n.434C= c.96C= (p.Pro32=) | |
20 | g.57562781C>G | CA511310872 | PCK1 | c.492C>G (p.Pro164=) n.1702C>G n.434C>G c.96C>G (p.Pro32=) | |
20 | g.57562781C>T | CA511310873 | PCK1 | c.492C>T (p.Pro164=) n.1702C>T n.434C>T c.96C>T (p.Pro32=) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.57562782T>A | CA409435107 | PCK1 | c.493T>A (p.Tyr165Asn) n.1703T>A n.435T>A c.97T>A (p.Tyr33Asn) | |
20 | g.57562782T>C | CA409435108 | PCK1 | c.493T>C (p.Tyr165His) n.1703T>C n.435T>C c.97T>C (p.Tyr33His) | |
20 | g.57562782T>G | CA409435109 | PCK1 | c.493T>G (p.Tyr165Asp) n.1703T>G n.435T>G c.97T>G (p.Tyr33Asp) | |
20 | g.57562783A>C | CA409435110 | PCK1 | c.494A>C (p.Tyr165Ser) n.1704A>C n.436A>C c.98A>C (p.Tyr33Ser) | |
20 | g.57562783A>G | CA409435111 | PCK1 | c.494A>G (p.Tyr165Cys) n.1704A>G n.436A>G c.98A>G (p.Tyr33Cys) | COSMIC COSMIC |
20 | g.57562783A>T | CA409435112 | PCK1 | c.494A>T (p.Tyr165Phe) n.1704A>T n.436A>T c.98A>T (p.Tyr33Phe) | |
20 | g.57562784C>A | CA409435114 | PCK1 | c.495C>A (p.Tyr165Ter) n.1705C>A n.437C>A c.99C>A (p.Tyr33Ter) | gnomAD v4 |
20 | g.57562784C= | CA2371896260 | PCK1 | c.495C= (p.Tyr165=) n.1705C= n.437C= c.99C= (p.Tyr33=) | |
20 | g.57562784C>G | CA409435113 | PCK1 | c.495C>G (p.Tyr165Ter) n.1705C>G n.437C>G c.99C>G (p.Tyr33Ter) | |
20 | g.57562784C>T | CA9922034 | PCK1 | c.495C>T (p.Tyr165=) n.1705C>T n.437C>T c.99C>T (p.Tyr33=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.57562785G>A | CA9922035 | PCK1 | c.496G>A (p.Val166Met) n.1706G>A n.438G>A c.100G>A (p.Val34Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
20 | g.57562785G>C | CA409435115 | PCK1 | c.496G>C (p.Val166Leu) n.1706G>C n.438G>C c.100G>C (p.Val34Leu) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.57562785G= | CA2371896261 | PCK1 | c.496G= (p.Val166=) n.1706G= n.438G= c.100G= (p.Val34=) | |
20 | g.57562785G>T | CA409435116 | PCK1 | c.496G>T (p.Val166Leu) n.1706G>T n.438G>T c.100G>T (p.Val34Leu) | gnomAD v4 |
20 | g.57562786T>A | CA9922036 | PCK1 | c.497T>A (p.Val166Glu) n.1707T>A n.439T>A c.101T>A (p.Val34Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.57562786T>C | CA409435117 | PCK1 | c.497T>C (p.Val166Ala) n.1707T>C n.439T>C c.101T>C (p.Val34Ala) | |
20 | g.57562786T>G | CA409435118 | PCK1 | c.497T>G (p.Val166Gly) n.1707T>G n.439T>G c.101T>G (p.Val34Gly) | |
20 | g.57562786T= | CA2371896262 | PCK1 | c.497T= (p.Val166=) n.1707T= n.439T= c.101T= (p.Val34=) | |
20 | g.57562786_57562787delinsTG | CA2371896263 | PCK1 | c.497_498delinsTG (p.Val166=) n.1707_1708delinsTG n.439_440delinsTG c.101_102delinsTG (p.Val34=) | |
20 | g.57562787G>A | CA511310874 | PCK1 | c.498G>A (p.Val166=) n.1708G>A n.440G>A c.102G>A (p.Val34=) | dbSNP gnomAD v4 |
20 | g.57562787G>C | CA9922037 | PCK1 | c.498G>C (p.Val166=) n.1708G>C n.440G>C c.102G>C (p.Val34=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.57562787G= | CA2371896265 | PCK1 | c.498G= (p.Val166=) n.1708G= n.440G= c.102G= (p.Val34=) | |
20 | g.57562787G>T | CA511310875 | PCK1 | c.498G>T (p.Val166=) n.1708G>T n.440G>T c.102G>T (p.Val34=) | dbSNP |
20 | g.57562788del | CA2371896264 | PCK1 | c.499del (p.Val167TrpfsTer7) n.1709del n.441del c.103del (p.Val35TrpfsTer7) | dbSNP |
20 | g.57562787_57562792del | CA2653459658 | PCK1 | c.498_503del (p.Val167_Ala168del) n.1708_1713del n.440_445del c.102_107del (p.Val35_Ala36del) | gnomAD v4 |
20 | g.57562788G>A | CA9922038 | PCK1 | c.499G>A (p.Val167Met) n.1709G>A n.441G>A c.103G>A (p.Val35Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.57562788G>C | CA409435119 | PCK1 | c.499G>C (p.Val167Leu) n.1709G>C n.441G>C c.103G>C (p.Val35Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.57562788G= | CA2371896266 | PCK1 | c.499G= (p.Val167=) n.1709G= n.441G= c.103G= (p.Val35=) | |
20 | g.57562788G>T | CA409435120 | PCK1 | c.499G>T (p.Val167Leu) n.1709G>T n.441G>T c.103G>T (p.Val35Leu) | |
20 | g.57562789T>A | CA409435121 | PCK1 | c.500T>A (p.Val167Glu) n.1710T>A n.442T>A c.104T>A (p.Val35Glu) | gnomAD v4 |
20 | g.57562789T>C | CA409435122 | PCK1 | c.500T>C (p.Val167Ala) n.1710T>C n.442T>C c.104T>C (p.Val35Ala) | |
20 | g.57562789T>G | CA409435123 | PCK1 | c.500T>G (p.Val167Gly) n.1710T>G n.442T>G c.104T>G (p.Val35Gly) | |
20 | g.57562790G>A | CA511310876 | PCK1 | c.501G>A (p.Val167=) n.1711G>A n.443G>A c.105G>A (p.Val35=) | |
20 | g.57562790G>C | CA511310877 | PCK1 | c.501G>C (p.Val167=) n.1711G>C n.443G>C c.105G>C (p.Val35=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.57562790G= | CA2371896267 | PCK1 | c.501G= (p.Val167=) n.1711G= n.443G= c.105G= (p.Val35=) | |
20 | g.57562790G>T | CA511310878 | PCK1 | c.501G>T (p.Val167=) n.1711G>T n.443G>T c.105G>T (p.Val35=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.57562791G>A | CA409435125 | PCK1 | c.502G>A (p.Ala168Thr) n.1712G>A n.444G>A c.106G>A (p.Ala36Thr) | dbSNP |
20 | g.57562791G>C | CA409435126 | PCK1 | c.502G>C (p.Ala168Pro) n.1712G>C n.444G>C c.106G>C (p.Ala36Pro) | |
20 | g.57562791G>T | CA409435124 | PCK1 | c.502G>T (p.Ala168Ser) n.1712G>T n.444G>T c.106G>T (p.Ala36Ser) | |
20 | g.57562792C>A | CA409435129 | PCK1 | c.503C>A (p.Ala168Asp) n.1713C>A n.445C>A c.107C>A (p.Ala36Asp) | dbSNP COSMIC COSMIC |
20 | g.57562792C= | CA2371896268 | PCK1 | c.503C= (p.Ala168=) n.1713C= n.445C= c.107C= (p.Ala36=) | |
20 | g.57562792C>G | CA409435127 | PCK1 | c.503C>G (p.Ala168Gly) n.1713C>G n.445C>G c.107C>G (p.Ala36Gly) | |
20 | g.57562792C>T | CA409435128 | PCK1 | c.503C>T (p.Ala168Val) n.1713C>T n.445C>T c.107C>T (p.Ala36Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.57562793C>A | CA511310879 | PCK1 | c.504C>A (p.Ala168=) n.1714C>A n.446C>A c.108C>A (p.Ala36=) | |
20 | g.57562793C>G | CA511310880 | PCK1 | c.504C>G (p.Ala168=) n.1714C>G n.446C>G c.108C>G (p.Ala36=) | dbSNP |
20 | g.57562793C>T | CA511310881 | PCK1 | c.504C>T (p.Ala168=) n.1714C>T n.446C>T c.108C>T (p.Ala36=) | ClinVar |
20 | g.57562794A>C | CA409435130 | PCK1 | c.505A>C (p.Ser169Arg) n.1715A>C n.447A>C c.109A>C (p.Ser37Arg) | |
20 | g.57562794A>G | CA409435131 | PCK1 | c.505A>G (p.Ser169Gly) n.1715A>G n.447A>G c.109A>G (p.Ser37Gly) | |
20 | g.57562794A>T | CA409435132 | PCK1 | c.505A>T (p.Ser169Cys) n.1715A>T n.447A>T c.109A>T (p.Ser37Cys) | |
20 | g.57562795G>A | CA409435133 | PCK1 | c.506G>A (p.Ser169Asn) n.1716G>A n.448G>A c.110G>A (p.Ser37Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.57562795G>C | CA409435134 | PCK1 | c.506G>C (p.Ser169Thr) n.1716G>C n.448G>C c.110G>C (p.Ser37Thr) | gnomAD v4 |
20 | g.57562795G= | CA2371896269 | PCK1 | c.506G= (p.Ser169=) n.1716G= n.448G= c.110G= (p.Ser37=) | |
20 | g.57562795G>T | CA409435135 | PCK1 | c.506G>T (p.Ser169Ile) n.1716G>T n.448G>T c.110G>T (p.Ser37Ile) | |
20 | g.57562796C>A | CA409435136 | PCK1 | c.507C>A (p.Ser169Arg) n.1717C>A n.449C>A c.111C>A (p.Ser37Arg) | dbSNP |
20 | g.57562796C= | CA2371896270 | PCK1 | c.507C= (p.Ser169=) n.1717C= n.449C= c.111C= (p.Ser37=) | |
20 | g.57562796C>G | CA409435137 | PCK1 | c.507C>G (p.Ser169Arg) n.1717C>G n.449C>G c.111C>G (p.Ser37Arg) | |
20 | g.57562796C>T | CA511310882 | PCK1 | c.507C>T (p.Ser169=) n.1717C>T n.449C>T c.111C>T (p.Ser37=) | dbSNP |
20 | g.57562797A>C | CA409435138 | PCK1 | c.508A>C (p.Met170Leu) n.1718A>C n.450A>C c.112A>C (p.Met38Leu) | dbSNP |
20 | g.57562797A>G | CA409435139 | PCK1 | c.508A>G (p.Met170Val) n.1718A>G n.450A>G c.112A>G (p.Met38Val) | |
20 | g.57562797A>T | CA409435140 | PCK1 | c.508A>T (p.Met170Leu) n.1718A>T n.450A>T c.112A>T (p.Met38Leu) | |
20 | g.57562798T>A | CA409435143 | PCK1 | c.509T>A (p.Met170Lys) n.1719T>A n.451T>A c.113T>A (p.Met38Lys) | |
20 | g.57562798T>C | CA409435142 | PCK1 | c.509T>C (p.Met170Thr) n.1719T>C n.451T>C c.113T>C (p.Met38Thr) | |
20 | g.57562798T>G | CA409435141 | PCK1 | c.509T>G (p.Met170Arg) n.1719T>G n.451T>G c.113T>G (p.Met38Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.57562798T= | CA2371896271 | PCK1 | c.509T= (p.Met170=) n.1719T= n.451T= c.113T= (p.Met38=) | |
20 | g.57562799G>A | CA409435144 | PCK1 | c.510G>A (p.Met170Ile) n.1720G>A n.452G>A c.114G>A (p.Met38Ile) | |
20 | g.57562799G>C | CA409435145 | PCK1 | c.510G>C (p.Met170Ile) n.1720G>C n.452G>C c.114G>C (p.Met38Ile) | dbSNP |
20 | g.57562799G= | CA2371896272 | PCK1 | c.510G= (p.Met170=) n.1720G= n.452G= c.114G= (p.Met38=) | |
20 | g.57562799G>T | CA409435146 | PCK1 | c.510G>T (p.Met170Ile) n.1720G>T n.452G>T c.114G>T (p.Met38Ile) | |
20 | g.57562800C>A | CA9922041 | PCK1 | c.511C>A (p.Arg171=) n.1721C>A n.453C>A c.115C>A (p.Arg39=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.57562800C= | CA2371896273 | PCK1 | c.511C= (p.Arg171=) n.1721C= n.453C= c.115C= (p.Arg39=) | |
20 | g.57562800C>G | CA409435147 | PCK1 | c.511C>G (p.Arg171Gly) n.1721C>G n.453C>G c.115C>G (p.Arg39Gly) | |
20 | g.57562800C>T | CA9922040 | PCK1 | c.511C>T (p.Arg171Trp) n.1721C>T n.453C>T c.115C>T (p.Arg39Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.57562800_57562805dup | CA9922039 | PCK1 | c.511_516dup (p.Ile172_Met173insArgIle) n.1721_1726dup n.453_458dup c.115_120dup (p.Ile40_Met41insArgIle) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.57562801G>A | CA9922042 | PCK1 | c.512G>A (p.Arg171Gln) n.1722G>A n.454G>A c.116G>A (p.Arg39Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.57562801G>C | CA409435148 | PCK1 | c.512G>C (p.Arg171Pro) n.1722G>C n.454G>C c.116G>C (p.Arg39Pro) | dbSNP |
20 | g.57562801G= | CA2371896274 | PCK1 | c.512G= (p.Arg171=) n.1722G= n.454G= c.116G= (p.Arg39=) | |
20 | g.57562801G>T | CA409435149 | PCK1 | c.512G>T (p.Arg171Leu) n.1722G>T n.454G>T c.116G>T (p.Arg39Leu) | |
20 | g.57562802G>A | CA511310883 | PCK1 | c.513G>A (p.Arg171=) n.1723G>A n.455G>A c.117G>A (p.Arg39=) | COSMIC COSMIC |
20 | g.57562802G>C | CA9922043 | PCK1 | c.513G>C (p.Arg171=) n.1723G>C n.455G>C c.117G>C (p.Arg39=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.57562802G= | CA2371896275 | PCK1 | c.513G= (p.Arg171=) n.1723G= n.455G= c.117G= (p.Arg39=) | |
20 | g.57562802G>T | CA511310884 | PCK1 | c.513G>T (p.Arg171=) n.1723G>T n.455G>T c.117G>T (p.Arg39=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.57562803A>C | CA409435150 | PCK1 | c.514A>C (p.Ile172Leu) n.1724A>C n.456A>C c.118A>C (p.Ile40Leu) | |
20 | g.57562803A>G | CA409435151 | PCK1 | c.514A>G (p.Ile172Val) n.1724A>G n.456A>G c.118A>G (p.Ile40Val) | |
20 | g.57562803A>T | CA409435152 | PCK1 | c.514A>T (p.Ile172Phe) n.1724A>T n.456A>T c.118A>T (p.Ile40Phe) | |
20 | g.57562804T>A | CA409435154 | PCK1 | c.515T>A (p.Ile172Asn) n.1725T>A n.457T>A c.119T>A (p.Ile40Asn) | |
20 | g.57562804T>C | CA409435155 | PCK1 | c.515T>C (p.Ile172Thr) n.1725T>C n.457T>C c.119T>C (p.Ile40Thr) | |
20 | g.57562804T>G | CA409435153 | PCK1 | c.515T>G (p.Ile172Ser) n.1725T>G n.457T>G c.119T>G (p.Ile40Ser) | |
20 | g.57562805C>A | CA511310885 | PCK1 | c.516C>A (p.Ile172=) n.1726C>A n.458C>A c.120C>A (p.Ile40=) | |
20 | g.57562805C= | CA2371896276 | PCK1 | c.516C= (p.Ile172=) n.1726C= n.458C= c.120C= (p.Ile40=) | |
20 | g.57562805C>G | CA316278968 | PCK1 | c.516C>G (p.Ile172Met) n.1726C>G n.458C>G c.120C>G (p.Ile40Met) | dbSNP gnomAD v4 |
20 | g.57562805C>T | CA9922044 | PCK1 | c.516C>T (p.Ile172=) n.1726C>T n.458C>T c.120C>T (p.Ile40=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
20 | g.57562806A>C | CA409435156 | PCK1 | c.517A>C (p.Met173Leu) n.1727A>C n.459A>C c.121A>C (p.Met41Leu) | |
20 | g.57562806A>G | CA409435157 | PCK1 | c.517A>G (p.Met173Val) n.1727A>G n.459A>G c.121A>G (p.Met41Val) | |
20 | g.57562806A>T | CA409435158 | PCK1 | c.517A>T (p.Met173Leu) n.1727A>T n.459A>T c.121A>T (p.Met41Leu) | |
20 | g.57562807T>A | CA409435161 | PCK1 | c.518T>A (p.Met173Lys) n.1728T>A n.460T>A c.122T>A (p.Met41Lys) | |
20 | g.57562807T>C | CA409435160 | PCK1 | c.518T>C (p.Met173Thr) n.1728T>C n.460T>C c.122T>C (p.Met41Thr) | gnomAD v4 |
20 | g.57562807T>G | CA409435159 | PCK1 | c.518T>G (p.Met173Arg) n.1728T>G n.460T>G c.122T>G (p.Met41Arg) | |
20 | g.57562808G>A | CA409435162 | PCK1 | c.519G>A (p.Met173Ile) n.1729G>A n.461G>A c.123G>A (p.Met41Ile) | COSMIC COSMIC |
20 | g.57562808G>C | CA409435163 | PCK1 | c.519G>C (p.Met173Ile) n.1729G>C n.461G>C c.123G>C (p.Met41Ile) | dbSNP |
20 | g.57562808G>T | CA409435164 | PCK1 | c.519G>T (p.Met173Ile) n.1729G>T n.461G>T c.123G>T (p.Met41Ile) | |
20 | g.57562808_57562820delinsGACGCGGATGGGC | CA2371896277 | PCK1 | c.519_531delinsGACGCGGATGGGC (p.Met173=) n.1729_1741delinsGACGCGGATGGGC n.461_473delinsGACGCGGATGGGC c.123_135delinsGACGCGGATGGGC (p.Met41=) | |
20 | g.57562809A>C | CA409435165 | PCK1 | c.520A>C (p.Thr174Pro) n.1730A>C n.462A>C c.124A>C (p.Thr42Pro) | |
20 | g.57562809A>G | CA409435166 | PCK1 | c.520A>G (p.Thr174Ala) n.1730A>G n.462A>G c.124A>G (p.Thr42Ala) | |
20 | g.57562809A>T | CA409435167 | PCK1 | c.520A>T (p.Thr174Ser) n.1730A>T n.462A>T c.124A>T (p.Thr42Ser) | |
20 | g.57562813_57562824del | CA745920921 | PCK1 | c.524_535del (p.Arg175_Thr178del) n.1734_1745del n.466_477del c.128_139del (p.Arg43_Thr46del) | dbSNP |
20 | g.57562810C>A | CA409435168 | PCK1 | c.521C>A (p.Thr174Lys) n.1731C>A n.463C>A c.125C>A (p.Thr42Lys) | dbSNP gnomAD v4 |
20 | g.57562810C= | CA2371896278 | PCK1 | c.521C= (p.Thr174=) n.1731C= n.463C= c.125C= (p.Thr42=) | |
20 | g.57562810C>G | CA409435169 | PCK1 | c.521C>G (p.Thr174Arg) n.1731C>G n.463C>G c.125C>G (p.Thr42Arg) | dbSNP |
20 | g.57562810C>T | CA9922045 | PCK1 | c.521C>T (p.Thr174Met) n.1731C>T n.463C>T c.125C>T (p.Thr42Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
20 | g.57562811G>A | CA9922046 | PCK1 | c.522G>A (p.Thr174=) n.1732G>A n.464G>A c.126G>A (p.Thr42=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.57562811G>C | CA511310886 | PCK1 | c.522G>C (p.Thr174=) n.1732G>C n.464G>C c.126G>C (p.Thr42=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.57562811G= | CA2371896279 | PCK1 | c.522G= (p.Thr174=) n.1732G= n.464G= c.126G= (p.Thr42=) | |
20 | g.57562811G>T | CA511310887 | PCK1 | c.522G>T (p.Thr174=) n.1732G>T n.464G>T c.126G>T (p.Thr42=) | gnomAD v4 |
20 | g.57562812C>A | CA511310888 | PCK1 | c.523C>A (p.Arg175=) n.1733C>A n.465C>A c.127C>A (p.Arg43=) | |
20 | g.57562812C= | CA2371896280 | PCK1 | c.523C= (p.Arg175=) n.1733C= n.465C= c.127C= (p.Arg43=) | |
20 | g.57562812C>G | CA409435170 | PCK1 | c.523C>G (p.Arg175Gly) n.1733C>G n.465C>G c.127C>G (p.Arg43Gly) | |
20 | g.57562812C>T | CA9922047 | PCK1 | c.523C>T (p.Arg175Trp) n.1733C>T n.465C>T c.127C>T (p.Arg43Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.57562813G>A | CA9922048 | PCK1 | c.524G>A (p.Arg175Gln) n.1734G>A n.466G>A c.128G>A (p.Arg43Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
20 | g.57562813G>C | CA9922049 | PCK1 | c.524G>C (p.Arg175Pro) n.1734G>C n.466G>C c.128G>C (p.Arg43Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.57562813G= | CA2371896281 | PCK1 | c.524G= (p.Arg175=) n.1734G= n.466G= c.128G= (p.Arg43=) | |
20 | g.57562813G>T | CA409435171 | PCK1 | c.524G>T (p.Arg175Leu) n.1734G>T n.466G>T c.128G>T (p.Arg43Leu) | dbSNP gnomAD v2 COSMIC |
20 | g.57562813_57562814delinsAA | CA645614738 | PCK1 | c.524_525delinsAA (p.Arg175Gln) n.1734_1735delinsAA n.466_467delinsAA c.128_129delinsAA (p.Arg43Gln) | COSMIC COSMIC |
20 | g.57562814G>A | CA9922050 | PCK1 | c.525G>A (p.Arg175=) n.1735G>A n.467G>A c.129G>A (p.Arg43=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
20 | g.57562814G>C | CA511310889 | PCK1 | c.525G>C (p.Arg175=) n.1735G>C n.467G>C c.129G>C (p.Arg43=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.57562814G= | CA2371896282 | PCK1 | c.525G= (p.Arg175=) n.1735G= n.467G= c.129G= (p.Arg43=) | |
20 | g.57562814G>T | CA511310890 | PCK1 | c.525G>T (p.Arg175=) n.1735G>T n.467G>T c.129G>T (p.Arg43=) | gnomAD v4 |
20 | g.57562815A>C | CA409435172 | PCK1 | c.526A>C (p.Met176Leu) n.1736A>C n.468A>C c.130A>C (p.Met44Leu) | |
20 | g.57562815A>G | CA409435173 | PCK1 | c.526A>G (p.Met176Val) n.1736A>G n.468A>G c.130A>G (p.Met44Val) | |
20 | g.57562815A>T | CA409435174 | PCK1 | c.526A>T (p.Met176Leu) n.1736A>T n.468A>T c.130A>T (p.Met44Leu) | |
20 | g.57562816T>A | CA409435177 | PCK1 | c.527T>A (p.Met176Lys) n.1737T>A n.469T>A c.131T>A (p.Met44Lys) | |
20 | g.57562816T>C | CA409435176 | PCK1 | c.527T>C (p.Met176Thr) n.1737T>C n.469T>C c.131T>C (p.Met44Thr) | dbSNP gnomAD v4 |
20 | g.57562816T>G | CA409435175 | PCK1 | c.527T>G (p.Met176Arg) n.1737T>G n.469T>G c.131T>G (p.Met44Arg) | |
20 | g.57562816T= | CA2371896283 | PCK1 | c.527T= (p.Met176=) n.1737T= n.469T= c.131T= (p.Met44=) | |
20 | g.57562817G>A | CA409435178 | PCK1 | c.528G>A (p.Met176Ile) n.1738G>A n.470G>A c.132G>A (p.Met44Ile) | dbSNP gnomAD v4 |
20 | g.57562817G>C | CA409435180 | PCK1 | c.528G>C (p.Met176Ile) n.1738G>C n.470G>C c.132G>C (p.Met44Ile) | |
20 | g.57562817G>T | CA409435179 | PCK1 | c.528G>T (p.Met176Ile) n.1738G>T n.470G>T c.132G>T (p.Met44Ile) | |
20 | g.57562818G>A | CA409435181 | PCK1 | c.529G>A (p.Gly177Ser) n.1739G>A n.471G>A c.133G>A (p.Gly45Ser) | |
20 | g.57562818G>C | CA409435182 | PCK1 | c.529G>C (p.Gly177Arg) n.1739G>C n.471G>C c.133G>C (p.Gly45Arg) | |
20 | g.57562818G>T | CA409435183 | PCK1 | c.529G>T (p.Gly177Cys) n.1739G>T n.471G>T c.133G>T (p.Gly45Cys) | |
20 | g.57562819G>A | CA409435184 | PCK1 | c.530G>A (p.Gly177Asp) n.1740G>A n.472G>A c.134G>A (p.Gly45Asp) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.57562819G>C | CA409435185 | PCK1 | c.530G>C (p.Gly177Ala) n.1740G>C n.472G>C c.134G>C (p.Gly45Ala) | |
20 | g.57562819G= | CA2371896284 | PCK1 | c.530G= (p.Gly177=) n.1740G= n.472G= c.134G= (p.Gly45=) | |
20 | g.57562819G>T | CA409435186 | PCK1 | c.530G>T (p.Gly177Val) n.1740G>T n.472G>T c.134G>T (p.Gly45Val) | gnomAD v4 |
20 | g.57562819_57562820insTGCGGCCGC | CA2566564024 | PCK1 | c.530_531insTGCGGCCGC (p.Gly177_Thr178insAlaAlaAla) n.1740_1741insTGCGGCCGC n.472_473insTGCGGCCGC c.134_135insTGCGGCCGC (p.Gly45_Thr46insAlaAlaAla) | |
20 | g.57562820C>A | CA511310891 | PCK1 | c.531C>A (p.Gly177=) n.1741C>A n.473C>A c.135C>A (p.Gly45=) | |
20 | g.57562820C>G | CA511310892 | PCK1 | c.531C>G (p.Gly177=) n.1741C>G n.473C>G c.135C>G (p.Gly45=) | |
20 | g.57562820C>T | CA511310893 | PCK1 | c.531C>T (p.Gly177=) n.1741C>T n.473C>T c.135C>T (p.Gly45=) | dbSNP |
20 | g.57562821A>C | CA409435187 | PCK1 | c.532A>C (p.Thr178Pro) n.1742A>C n.474A>C c.136A>C (p.Thr46Pro) | |
20 | g.57562821A>G | CA409435188 | PCK1 | c.532A>G (p.Thr178Ala) n.1742A>G n.474A>G c.136A>G (p.Thr46Ala) | gnomAD v4 |
20 | g.57562821A>T | CA409435189 | PCK1 | c.532A>T (p.Thr178Ser) n.1742A>T n.474A>T c.136A>T (p.Thr46Ser) | dbSNP |
20 | g.57562821_57562822insAA | CA2533483630 | PCK1 | c.532_533insAA (p.Thr178LysfsTer?) n.1742_1743insAA n.474_475insAA c.136_137insAA (p.Thr46LysfsTer?) | |
20 | g.57562821_57562822delinsAC | CA2371896285 | PCK1 | c.532_533delinsAC (p.Thr178=) n.1742_1743delinsAC n.474_475delinsAC c.136_137delinsAC (p.Thr46=) | |
20 | g.57562821_57562822insTGGACCTCAT | CA2553338104 | PCK1 | c.532_533insTGGACCTCAT (p.Thr178MetfsTer?) n.1742_1743insTGGACCTCAT n.474_475insTGGACCTCAT c.136_137insTGGACCTCAT (p.Thr46MetfsTer?) | |
20 | g.57562821_57562822insTGGACCTCATCGCCGAGGGC | CA2816822577 | PCK1 | c.532_533insTGGACCTCATCGCCGAGGGC (p.Thr178MetfsTer?) n.1742_1743insTGGACCTCATCGCCGAGGGC n.474_475insTGGACCTCATCGCCGAGGGC c.136_137insTGGACCTCATCGCCGAGGGC (p.Thr46MetfsTer?) | |
20 | g.57562821_57562822insAGCCCGTGTGGGACGTGCTGGGTGCTGACGG | CA2555312081 | PCK1 | c.532_533insAGCCCGTGTGGGACGTGCTGGGTGCTGACGG (p.Thr178LysfsTer?) n.1742_1743insAGCCCGTGTGGGACGTGCTGGGTGCTGACGG n.474_475insAGCCCGTGTGGGACGTGCTGGGTGCTGACGG c.136_137insAGCCCGTGTGGGACGTGCTGGGTGCTGACGG (p.Thr46LysfsTer?) | gnomAD v4 |
20 | g.57562821_57562822insAGCCCGTGTGGGACGTACTGGGTGCTGACGG | CA2508776839 | PCK1 | c.532_533insAGCCCGTGTGGGACGTACTGGGTGCTGACGG (p.Thr178LysfsTer?) n.1742_1743insAGCCCGTGTGGGACGTACTGGGTGCTGACGG n.474_475insAGCCCGTGTGGGACGTACTGGGTGCTGACGG c.136_137insAGCCCGTGTGGGACGTACTGGGTGCTGACGG (p.Thr46LysfsTer?) | |
20 | g.57562821_57562822insAGCCCGTGTGGGGCGTGCTGGGTGCTGACGG | CA2536701362 | PCK1 | c.532_533insAGCCCGTGTGGGGCGTGCTGGGTGCTGACGG (p.Thr178LysfsTer?) n.1742_1743insAGCCCGTGTGGGGCGTGCTGGGTGCTGACGG n.474_475insAGCCCGTGTGGGGCGTGCTGGGTGCTGACGG c.136_137insAGCCCGTGTGGGGCGTGCTGGGTGCTGACGG (p.Thr46LysfsTer?) | |
20 | g.57562821_57562822insAGCCCGTGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCC | CA1018823225 | PCK1 | c.532_533insAGCCCGTGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCC (p.Thr178LysfsTer?) n.1742_1743insAGCCCGTGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCC n.474_475insAGCCCGTGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCC c.136_137insAGCCCGTGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCC (p.Thr46LysfsTer?) | gnomAD v3 gnomAD v4 |
20 | g.57562822del | CA9922051 | PCK1 | c.533del (p.Thr178SerfsTer?) n.1743del n.475del c.137del (p.Thr46SerfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.57562822C>A | CA409435190 | PCK1 | c.533C>A (p.Thr178Lys) n.1743C>A n.475C>A c.137C>A (p.Thr46Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.57562822C= | CA2371896286 | PCK1 | c.533C= (p.Thr178=) n.1743C= n.475C= c.137C= (p.Thr46=) | |
20 | g.57562822C>G | CA409435191 | PCK1 | c.533C>G (p.Thr178Arg) n.1743C>G n.475C>G c.137C>G (p.Thr46Arg) | dbSNP |
20 | g.57562822C>T | CA9922052 | PCK1 | c.533C>T (p.Thr178Met) n.1743C>T n.475C>T c.137C>T (p.Thr46Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.57562822_57562823insCCGTGTGGGACGTGCTGGGTACTGACGGT | CA2569575452 | PCK1 | c.533_534insCCGTGTGGGACGTGCTGGGTACTGACGGT (p.Pro179ArgfsTer8) n.1743_1744insCCGTGTGGGACGTGCTGGGTACTGACGGT n.475_476insCCGTGTGGGACGTGCTGGGTACTGACGGT c.137_138insCCGTGTGGGACGTGCTGGGTACTGACGGT (p.Pro47ArgfsTer8) | |
20 | g.57562823del | CA2653459748 | PCK1 | c.534del (p.Val180SerfsTer?) n.1744del n.476del c.138del (p.Val48SerfsTer?) | gnomAD v4 |
20 | g.57562823G>A | CA511310894 | PCK1 | c.534G>A (p.Thr178=) n.1744G>A n.476G>A c.138G>A (p.Thr46=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
20 | g.57562823G>C | CA511310895 | PCK1 | c.534G>C (p.Thr178=) n.1744G>C n.476G>C c.138G>C (p.Thr46=) | |
20 | g.57562823G= | CA2371896287 | PCK1 | c.534G= (p.Thr178=) n.1744G= n.476G= c.138G= (p.Thr46=) | |
20 | g.57562823G>T | CA511310896 | PCK1 | c.534G>T (p.Thr178=) n.1744G>T n.476G>T c.138G>T (p.Thr46=) | dbSNP |
20 | g.57562824C>A | CA9922053 | PCK1 | c.535C>A (p.Pro179Thr) n.1745C>A n.477C>A c.139C>A (p.Pro47Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
20 | g.57562824C= | CA2371896288 | PCK1 | c.535C= (p.Pro179=) n.1745C= n.477C= c.139C= (p.Pro47=) | |
20 | g.57562824C>G | CA316279006 | PCK1 | c.535C>G (p.Pro179Ala) n.1745C>G n.477C>G c.139C>G (p.Pro47Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.57562824C>T | CA409435192 | PCK1 | c.535C>T (p.Pro179Ser) n.1745C>T n.477C>T c.139C>T (p.Pro47Ser) | dbSNP |
20 | g.57562825C>A | CA409435193 | PCK1 | c.536C>A (p.Pro179His) n.1746C>A n.478C>A c.140C>A (p.Pro47His) | gnomAD v4 |
20 | g.57562825C>G | CA409435194 | PCK1 | c.536C>G (p.Pro179Arg) n.1746C>G n.478C>G c.140C>G (p.Pro47Arg) | |
20 | g.57562825C>T | CA409435195 | PCK1 | c.536C>T (p.Pro179Leu) n.1746C>T n.478C>T c.140C>T (p.Pro47Leu) | dbSNP gnomAD v4 |
20 | g.57562825_57562826insTTCGTGCCCGC | CA2549559458 | PCK1 | c.536_537insTTCGTGCCCGC (p.Val180SerfsTer?) n.1746_1747insTTCGTGCCCGC n.478_479insTTCGTGCCCGC c.140_141insTTCGTGCCCGC (p.Val48SerfsTer?) | |
20 | g.57562825_57562826insGTTCACAGCGTCGGCATGCCGCTGCTTGAGGG | CA2528597520 | PCK1 | c.536_537insGTTCACAGCGTCGGCATGCCGCTGCTTGAGGG (p.Val180PhefsTer?) n.1746_1747insGTTCACAGCGTCGGCATGCCGCTGCTTGAGGG n.478_479insGTTCACAGCGTCGGCATGCCGCTGCTTGAGGG c.140_141insGTTCACAGCGTCGGCATGCCGCTGCTTGAGGG (p.Val48PhefsTer?) | |
20 | g.57562825_57562826insTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTCGAAGG | CA2540601985 | PCK1 | c.536_537insTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTCGAAGG (p.Val180SerfsTer?) n.1746_1747insTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTCGAAGG n.478_479insTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTCGAAGG c.140_141insTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTCGAAGG (p.Val48SerfsTer?) | |
20 | g.57562825_57562826insTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTTGAGGG | CA2816822581 | PCK1 | c.536_537insTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTTGAGGG (p.Val180SerfsTer?) n.1746_1747insTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTTGAGGG n.478_479insTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTTGAGGG c.140_141insTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTTGAGGG (p.Val48SerfsTer?) | |
20 | g.57562825_57562826insTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGG | CA2518967867 | PCK1 | c.536_537insTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGG (p.Val180SerfsTer?) n.1746_1747insTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGG n.478_479insTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGG c.140_141insTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGG (p.Val48SerfsTer?) | |
20 | g.57562826C>A | CA511310897 | PCK1 | c.537C>A (p.Pro179=) n.1747C>A n.479C>A c.141C>A (p.Pro47=) | dbSNP gnomAD v4 |
20 | g.57562826C= | CA2371896289 | PCK1 | c.537C= (p.Pro179=) n.1747C= n.479C= c.141C= (p.Pro47=) | |
20 | g.57562826C>G | CA511310898 | PCK1 | c.537C>G (p.Pro179=) n.1747C>G n.479C>G c.141C>G (p.Pro47=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.57562826C>T | CA9922054 | PCK1 | c.537C>T (p.Pro179=) n.1747C>T n.479C>T c.141C>T (p.Pro47=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.57562828_57562829insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGT | CA2519640346 | PCK1 | c.539_540insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGT (p.Val180_Leu181insTrpAspValLeuGlyThrAspGlyAlaPheValProAlaValHisSerVal) n.1749_1750insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGT n.481_482insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGT c.143_144insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGT (p.Val48_Leu49insTrpAspValLeuGlyThrAspGlyAlaPheValProAlaValHisSerVal) | gnomAD v4 |
20 | g.57562828_57562829insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGT | CA2547699019 | PCK1 | c.539_540insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGT (p.Val180_Leu181insTrpAspValLeuGlyThrAspGlyAlaPheValProAlaValHisSerValGlyMetProLeuLeuGluGlyVal) n.1749_1750insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGT n.481_482insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGT c.143_144insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGT (p.Val48_Leu49insTrpAspValLeuGlyThrAspGlyAlaPheValProAlaValHisSerValGlyMetProLeuLeuGluGlyVal) | |
20 | g.57562826_57562827insA | CA2653459777 | PCK1 | c.537_538insA (p.Val180SerfsTer?) n.1747_1748insA n.479_480insA c.141_142insA (p.Val48SerfsTer?) | gnomAD v4 |
20 | g.57562826_57562827insCTGG | CA2816822589 | PCK1 | c.537_538insCTGG (p.Val180LeufsTer?) n.1747_1748insCTGG n.479_480insCTGG c.141_142insCTGG (p.Val48LeufsTer?) | |
20 | g.57562827G>A | CA9922055 | PCK1 | c.538G>A (p.Val180Ile) n.1748G>A n.480G>A c.142G>A (p.Val48Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
20 | g.57562827G>C | CA409435196 | PCK1 | c.538G>C (p.Val180Leu) n.1748G>C n.480G>C c.142G>C (p.Val48Leu) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.57562827G= | CA2371896290 | PCK1 | c.538G= (p.Val180=) n.1748G= n.480G= c.142G= (p.Val48=) | |
20 | g.57562827G>T | CA409435197 | PCK1 | c.538G>T (p.Val180Phe) n.1748G>T n.480G>T c.142G>T (p.Val48Phe) | |
20 | g.57562828_57562829insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGT | CA2816822584 | PCK1 | c.539_540insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGT (p.Val180_Leu181insTrpAspValLeuGlyAlaAspGlyAlaPheValProAlaValHisSerValGlyMetProLeuLeuGluGlyVal) n.1749_1750insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGT n.481_482insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGT c.143_144insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGT (p.Val48_Leu49insTrpAspValLeuGlyAlaAspGlyAlaPheValProAlaValHisSerValGlyMetProLeuLeuGluGlyVal) | |
20 | g.57562828T>A | CA409435198 | PCK1 | c.539T>A (p.Val180Asp) n.1749T>A n.481T>A c.143T>A (p.Val48Asp) | |
20 | g.57562828T>C | CA409435199 | PCK1 | c.539T>C (p.Val180Ala) n.1749T>C n.481T>C c.143T>C (p.Val48Ala) | |
20 | g.57562828T>G | CA409435200 | PCK1 | c.539T>G (p.Val180Gly) n.1749T>G n.481T>G c.143T>G (p.Val48Gly) | |
20 | g.57562828T= | CA2371896291 | PCK1 | c.539T= (p.Val180=) n.1749T= n.481T= c.143T= (p.Val48=) | |
20 | g.57562828_57562829insGTGGGACGTGCTGGGTACTGACGGTGCCTT | CA2529192015 | PCK1 | c.539_540insGTGGGACGTGCTGGGTACTGACGGTGCCTT (p.Val180_Leu181insTrpAspValLeuGlyThrAspGlyAlaPhe) n.1749_1750insGTGGGACGTGCTGGGTACTGACGGTGCCTT n.481_482insGTGGGACGTGCTGGGTACTGACGGTGCCTT c.143_144insGTGGGACGTGCTGGGTACTGACGGTGCCTT (p.Val48_Leu49insTrpAspValLeuGlyThrAspGlyAlaPhe) | |
20 | g.57562828_57562829insGTGGGACGTGCTGGGTGCTGACGGCGCCTT | CA2568177424 | PCK1 | c.539_540insGTGGGACGTGCTGGGTGCTGACGGCGCCTT (p.Val180_Leu181insTrpAspValLeuGlyAlaAspGlyAlaPhe) n.1749_1750insGTGGGACGTGCTGGGTGCTGACGGCGCCTT n.481_482insGTGGGACGTGCTGGGTGCTGACGGCGCCTT c.143_144insGTGGGACGTGCTGGGTGCTGACGGCGCCTT (p.Val48_Leu49insTrpAspValLeuGlyAlaAspGlyAlaPhe) | |
20 | g.57562828_57562829insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTT | CA2527723020 | PCK1 | c.539_540insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTT (p.Leu181TrpfsTer?) n.1749_1750insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTT n.481_482insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTT c.143_144insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTT (p.Leu49TrpfsTer?) | |
20 | g.57562828_57562829insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTT | CA2524101159 | PCK1 | c.539_540insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTT (p.Leu181TrpfsTer?) n.1749_1750insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTT n.481_482insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTT c.143_144insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTT (p.Leu49TrpfsTer?) | |
20 | g.57562828_57562829insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTT | CA2816822591 | PCK1 | c.539_540insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTT (p.Leu181TrpfsTer?) n.1749_1750insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTT n.481_482insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTT c.143_144insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTT (p.Leu49TrpfsTer?) | |
20 | g.57562828_57562829insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCT | CA2500276495 | PCK1 | c.539_540insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCT (p.Val180_Leu181insTrpAspValLeuGlyAlaAspGlyAlaPheValProAlaValHisSerValGlyMetProLeuLeu) n.1749_1750insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCT n.481_482insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCT c.143_144insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCT (p.Val48_Leu49insTrpAspValLeuGlyAlaAspGlyAlaPheValProAlaValHisSerValGlyMetProLeuLeu) | |
20 | g.57562828_57562829insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCT | CA2569643471 | PCK1 | c.539_540insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCT (p.Val180_Leu181insTrpAspValLeuGlyAlaAspGlyAlaPheValProAlaValHisSerValGlyMetProLeuLeu) n.1749_1750insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCT n.481_482insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCT c.143_144insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCT (p.Val48_Leu49insTrpAspValLeuGlyAlaAspGlyAlaPheValProAlaValHisSerValGlyMetProLeuLeu) | |
20 | g.57562828_57562829insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCT | CA2550180903 | PCK1 | c.539_540insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCT (p.Val180_Leu181insTrpAspValLeuGlyAlaAspGlyAlaPheValProAlaValHisSerValGlyMetProLeuLeu) n.1749_1750insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCT n.481_482insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCT c.143_144insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCT (p.Val48_Leu49insTrpAspValLeuGlyAlaAspGlyAlaPheValProAlaValHisSerValGlyMetProLeuLeu) | |
20 | g.57562828_57562829insGTGGGA | CA1018823238 | PCK1 | c.539_540insGTGGGA (p.Val180_Leu181insTrpAsp) n.1749_1750insGTGGGA n.481_482insGTGGGA c.143_144insGTGGGA (p.Val48_Leu49insTrpAsp) | gnomAD v3 gnomAD v4 |
20 | g.57562828_57562829insGTGGGG | CA2563614157 | PCK1 | c.539_540insGTGGGG (p.Val180_Leu181insTrpGly) n.1749_1750insGTGGGG n.481_482insGTGGGG c.143_144insGTGGGG (p.Val48_Leu49insTrpGly) | |
20 | g.57562828_57562829insGTGGGACGTG | CA2520460801 | PCK1 | c.539_540insGTGGGACGTG (p.Leu181TrpfsTer?) n.1749_1750insGTGGGACGTG n.481_482insGTGGGACGTG c.143_144insGTGGGACGTG (p.Leu49TrpfsTer?) | |
20 | g.57562828_57562829insGTGGGACGTGCTGGGTA | CA1018823239 | PCK1 | c.539_540insGTGGGACGTGCTGGGTA (p.Leu181TrpfsTer?) n.1749_1750insGTGGGACGTGCTGGGTA n.481_482insGTGGGACGTGCTGGGTA c.143_144insGTGGGACGTGCTGGGTA (p.Leu49TrpfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.57562828_57562829insGTGGGACGTGCTGGGTACTGA | CA2816822611 | PCK1 | c.539_540insGTGGGACGTGCTGGGTACTGA (p.Val180_Leu181insTrpAspValLeuGlyThrAsp) n.1749_1750insGTGGGACGTGCTGGGTACTGA n.481_482insGTGGGACGTGCTGGGTACTGA c.143_144insGTGGGACGTGCTGGGTACTGA (p.Val48_Leu49insTrpAspValLeuGlyThrAsp) | |
20 | g.57562828_57562829insGTGGGACGTGCTGGGTACTGACGGTG | CA1018823242 | PCK1 | c.539_540insGTGGGACGTGCTGGGTACTGACGGTG (p.Leu181TrpfsTer?) n.1749_1750insGTGGGACGTGCTGGGTACTGACGGTG n.481_482insGTGGGACGTGCTGGGTACTGACGGTG c.143_144insGTGGGACGTGCTGGGTACTGACGGTG (p.Leu49TrpfsTer?) | gnomAD v3 gnomAD v4 |
20 | g.57562828_57562829insGTGGGACGTGCTGGGTGCTGACGGCG | CA2527876865 | PCK1 | c.539_540insGTGGGACGTGCTGGGTGCTGACGGCG (p.Leu181TrpfsTer?) n.1749_1750insGTGGGACGTGCTGGGTGCTGACGGCG n.481_482insGTGGGACGTGCTGGGTGCTGACGGCG c.143_144insGTGGGACGTGCTGGGTGCTGACGGCG (p.Leu49TrpfsTer?) | gnomAD v4 |
20 | g.57562828_57562829insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTG | CA2548376558 | PCK1 | c.539_540insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTG (p.Leu181TrpfsTer?) n.1749_1750insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTG n.481_482insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTG c.143_144insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTG (p.Leu49TrpfsTer?) | |
20 | g.57562828_57562829insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTG | CA1018823246 | PCK1 | c.539_540insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTG (p.Leu181TrpfsTer?) n.1749_1750insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTG n.481_482insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTG c.143_144insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTG (p.Leu49TrpfsTer?) | gnomAD v3 gnomAD v4 |
20 | g.57562828_57562829insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGC | CA2566563297 | PCK1 | c.539_540insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGC (p.Leu181TrpfsTer?) n.1749_1750insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGC n.481_482insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGC c.143_144insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGC (p.Leu49TrpfsTer?) | |
20 | g.57562828_57562829insGTGGGGCGTGCTGGGTGCTGACGGCGCCTTCGTGCCCG | CA2530796521 | PCK1 | c.539_540insGTGGGGCGTGCTGGGTGCTGACGGCGCCTTCGTGCCCG (p.Leu181TrpfsTer?) n.1749_1750insGTGGGGCGTGCTGGGTGCTGACGGCGCCTTCGTGCCCG n.481_482insGTGGGGCGTGCTGGGTGCTGACGGCGCCTTCGTGCCCG c.143_144insGTGGGGCGTGCTGGGTGCTGACGGCGCCTTCGTGCCCG (p.Leu49TrpfsTer?) | |
20 | g.57562828_57562829insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTG | CA2546376033 | PCK1 | c.539_540insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTG (p.Leu181TrpfsTer?) n.1749_1750insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTG n.481_482insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTG c.143_144insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTG (p.Leu49TrpfsTer?) | |
20 | g.57562828_57562829insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCG | CA2653459819 | PCK1 | c.539_540insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCG (p.Leu181TrpfsTer?) n.1749_1750insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCG n.481_482insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCG c.143_144insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCG (p.Leu49TrpfsTer?) | gnomAD v4 |
20 | g.57562828_57562829insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCG | CA2538161025 | PCK1 | c.539_540insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCG (p.Leu181TrpfsTer?) n.1749_1750insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCG n.481_482insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCG c.143_144insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCG (p.Leu49TrpfsTer?) | |
20 | g.57562828_57562829insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCA | CA2538196072 | PCK1 | c.539_540insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCA (p.Val180_Leu181insTrpAspValLeuGlyThrAspGlyAlaPheValProAlaValHis) n.1749_1750insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCA n.481_482insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCA c.143_144insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCA (p.Val48_Leu49insTrpAspValLeuGlyThrAspGlyAlaPheValProAlaValHis) | |
20 | g.57562828_57562829insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCA | CA636606547 | PCK1 | c.539_540insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCA (p.Val180_Leu181insTrpAspValLeuGlyAlaAspGlyAlaPheValProAlaValHis) n.1749_1750insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCA n.481_482insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCA c.143_144insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCA (p.Val48_Leu49insTrpAspValLeuGlyAlaAspGlyAlaPheValProAlaValHis) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.57562828_57562829insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATG | CA2500927694 | PCK1 | c.539_540insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATG (p.Leu181TrpfsTer?) n.1749_1750insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATG n.481_482insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATG c.143_144insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATG (p.Leu49TrpfsTer?) | |
20 | g.57562828_57562829insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATG | CA2553866984 | PCK1 | c.539_540insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATG (p.Leu181TrpfsTer?) n.1749_1750insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATG n.481_482insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATG c.143_144insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATG (p.Leu49TrpfsTer?) | |
20 | g.57562828_57562829insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATG | CA2540283274 | PCK1 | c.539_540insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATG (p.Leu181TrpfsTer?) n.1749_1750insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATG n.481_482insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATG c.143_144insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATG (p.Leu49TrpfsTer?) | |
20 | g.57562828_57562829insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATGCCG | CA2570240463 | PCK1 | c.539_540insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATGCCG (p.Leu181TrpfsTer?) n.1749_1750insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATGCCG n.481_482insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATGCCG c.143_144insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATGCCG (p.Leu49TrpfsTer?) | |
20 | g.57562828_57562829insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTG | CA2544793088 | PCK1 | c.539_540insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTG (p.Leu181TrpfsTer?) n.1749_1750insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTG n.481_482insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTG c.143_144insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTG (p.Leu49TrpfsTer?) | |
20 | g.57562828_57562829insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTG | CA2568910800 | PCK1 | c.539_540insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTG (p.Leu181TrpfsTer?) n.1749_1750insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTG n.481_482insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTG c.143_144insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTG (p.Leu49TrpfsTer?) | |
20 | g.57562828_57562829insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTG | CA2511472861 | PCK1 | c.539_540insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTG (p.Leu181TrpfsTer?) n.1749_1750insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTG n.481_482insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTG c.143_144insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTG (p.Leu49TrpfsTer?) | |
20 | g.57562828_57562829insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTG | CA2537071975 | PCK1 | c.539_540insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTG (p.Leu181TrpfsTer?) n.1749_1750insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTG n.481_482insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTG c.143_144insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTG (p.Leu49TrpfsTer?) | |
20 | g.57562828_57562829insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGTGTCGGCATGCCGCTG | CA2567804412 | PCK1 | c.539_540insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGTGTCGGCATGCCGCTG (p.Leu181TrpfsTer?) n.1749_1750insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGTGTCGGCATGCCGCTG n.481_482insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGTGTCGGCATGCCGCTG c.143_144insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGTGTCGGCATGCCGCTG (p.Leu49TrpfsTer?) | |
20 | g.57562828_57562829insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGG | CA2547699824 | PCK1 | c.539_540insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGG (p.Val180_Leu181insTrpAspValLeuGlyThrAspGlyAlaPheValProAlaValHisSerValGlyMetProLeuLeuGluGly) n.1749_1750insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGG n.481_482insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGG c.143_144insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGG (p.Val48_Leu49insTrpAspValLeuGlyThrAspGlyAlaPheValProAlaValHisSerValGlyMetProLeuLeuGluGly) | |
20 | g.57562828_57562829insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTCGAAGGCGTCCAGGAAGTCC | CA2541234214 | PCK1 | c.539_540insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTCGAAGGCGTCCAGGAAGTCC (p.Leu181TrpfsTer?) n.1749_1750insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTCGAAGGCGTCCAGGAAGTCC n.481_482insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTCGAAGGCGTCCAGGAAGTCC c.143_144insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTCGAAGGCGTCCAGGAAGTCC (p.Leu49TrpfsTer?) | |
20 | g.57562828_57562829insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGCGTCCAGGAAGTCC | CA2567804846 | PCK1 | c.539_540insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGCGTCCAGGAAGTCC (p.Leu181TrpfsTer?) n.1749_1750insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGCGTCCAGGAAGTCC n.481_482insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGCGTCCAGGAAGTCC c.143_144insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGCGTCCAGGAAGTCC (p.Leu49TrpfsTer?) | |
20 | g.57562828_57562829insGTGGGACGTGCTGGGCGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCAGGAGGTTC | CA2816822606 | PCK1 | c.539_540insGTGGGACGTGCTGGGCGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCAGGAGGTTC (p.Leu181TrpfsTer?) n.1749_1750insGTGGGACGTGCTGGGCGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCAGGAGGTTC n.481_482insGTGGGACGTGCTGGGCGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCAGGAGGTTC c.143_144insGTGGGACGTGCTGGGCGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCAGGAGGTTC (p.Leu49TrpfsTer?) | |
20 | g.57562828_57562829insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCAGGAGGTTC | CA2567048098 | PCK1 | c.539_540insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCAGGAGGTTC (p.Leu181TrpfsTer?) n.1749_1750insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCAGGAGGTTC n.481_482insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCAGGAGGTTC c.143_144insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCAGGAGGTTC (p.Leu49TrpfsTer?) | |
20 | g.57562828_57562829insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTC | CA2512247137 | PCK1 | c.539_540insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTC (p.Leu181TrpfsTer?) n.1749_1750insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTC n.481_482insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTC c.143_144insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTC (p.Leu49TrpfsTer?) | |
20 | g.57562828_57562829insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTCC | CA2510446681 | PCK1 | c.539_540insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTCC (p.Leu181TrpfsTer?) n.1749_1750insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTCC n.481_482insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTCC c.143_144insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTCC (p.Leu49TrpfsTer?) | |
20 | g.57562828_57562829insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTC | CA636606545 | PCK1 | c.539_540insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTC (p.Leu181TrpfsTer?) n.1749_1750insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTC n.481_482insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTC c.143_144insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTC (p.Leu49TrpfsTer?) | gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.57562828_57562829insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTC | CA636606546 | PCK1 | c.539_540insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTC (p.Leu181TrpfsTer?) n.1749_1750insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTC n.481_482insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTC c.143_144insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTC (p.Leu49TrpfsTer?) | gnomAD v2 |
20 | g.57562828_57562829insGTGGGACGTGCTGGGTACTGACGGTGCCTTTGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTC | CA2508341901 | PCK1 | c.539_540insGTGGGACGTGCTGGGTACTGACGGTGCCTTTGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTC (p.Leu181TrpfsTer?) n.1749_1750insGTGGGACGTGCTGGGTACTGACGGTGCCTTTGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTC n.481_482insGTGGGACGTGCTGGGTACTGACGGTGCCTTTGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTC c.143_144insGTGGGACGTGCTGGGTACTGACGGTGCCTTTGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTC (p.Leu49TrpfsTer?) | |
20 | g.57562828_57562829insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGCGTCCAGGAAGTCCCCTGGC | CA2524096091 | PCK1 | c.539_540insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGCGTCCAGGAAGTCCCCTGGC (p.Leu181TrpfsTer?) n.1749_1750insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGCGTCCAGGAAGTCCCCTGGC n.481_482insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGCGTCCAGGAAGTCCCCTGGC c.143_144insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGCGTCCAGGAAGTCCCCTGGC (p.Leu49TrpfsTer?) | |
20 | g.57562828_57562829insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCAGGAGGTTCCCTGGC | CA2501287247 | PCK1 | c.539_540insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCAGGAGGTTCCCTGGC (p.Leu181TrpfsTer?) n.1749_1750insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCAGGAGGTTCCCTGGC n.481_482insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCAGGAGGTTCCCTGGC c.143_144insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCAGGAGGTTCCCTGGC (p.Leu49TrpfsTer?) | |
20 | g.57562828_57562829insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTCCCTGGC | CA2510449841 | PCK1 | c.539_540insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTCCCTGGC (p.Leu181TrpfsTer?) n.1749_1750insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTCCCTGGC n.481_482insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTCCCTGGC c.143_144insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTCCCTGGC (p.Leu49TrpfsTer?) | |
20 | g.57562828_57562829insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCAGGAGGTTCCCTGGC | CA2525917106 | PCK1 | c.539_540insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCAGGAGGTTCCCTGGC (p.Leu181TrpfsTer?) n.1749_1750insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCAGGAGGTTCCCTGGC n.481_482insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCAGGAGGTTCCCTGGC c.143_144insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCAGGAGGTTCCCTGGC (p.Leu49TrpfsTer?) | |
20 | g.57562828_57562829insGTGGGGCGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGCGTCCAGGAAGTCCCCTGGC | CA2556283789 | PCK1 | c.539_540insGTGGGGCGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGCGTCCAGGAAGTCCCCTGGC (p.Leu181TrpfsTer?) n.1749_1750insGTGGGGCGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGCGTCCAGGAAGTCCCCTGGC n.481_482insGTGGGGCGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGCGTCCAGGAAGTCCCCTGGC c.143_144insGTGGGGCGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGCGTCCAGGAAGTCCCCTGGC (p.Leu49TrpfsTer?) | |
20 | g.57562828_57562829insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTCCCTGGC | CA2543789344 | PCK1 | c.539_540insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTCCCTGGC (p.Leu181TrpfsTer?) n.1749_1750insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTCCCTGGC n.481_482insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTCCCTGGC c.143_144insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTCCCTGGC (p.Leu49TrpfsTer?) | |
20 | g.57562828_57562829insGTGGGACGTGCTGGGCGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCAGGAGGTTCCCTGGC | CA2816822609 | PCK1 | c.539_540insGTGGGACGTGCTGGGCGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCAGGAGGTTCCCTGGC (p.Leu181TrpfsTer?) n.1749_1750insGTGGGACGTGCTGGGCGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCAGGAGGTTCCCTGGC n.481_482insGTGGGACGTGCTGGGCGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCAGGAGGTTCCCTGGC c.143_144insGTGGGACGTGCTGGGCGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCAGGAGGTTCCCTGGC (p.Leu49TrpfsTer?) | |
20 | g.57562828_57562829insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTCGAAGGCGTCCAGGAAGTCCCCTGGC | CA2501747735 | PCK1 | c.539_540insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTCGAAGGCGTCCAGGAAGTCCCCTGGC (p.Leu181TrpfsTer?) n.1749_1750insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTCGAAGGCGTCCAGGAAGTCCCCTGGC n.481_482insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTCGAAGGCGTCCAGGAAGTCCCCTGGC c.143_144insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTTCACAGCGTCGGCATGCCGCTGCTCGAAGGCGTCCAGGAAGTCCCCTGGC (p.Leu49TrpfsTer?) | |
20 | g.57562828_57562829insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTCCCTGGC | CA2503688971 | PCK1 | c.539_540insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTCCCTGGC (p.Leu181TrpfsTer?) n.1749_1750insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTCCCTGGC n.481_482insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTCCCTGGC c.143_144insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCAGGAAGTTCCCTGGC (p.Leu49TrpfsTer?) | |
20 | g.57562828_57562829insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCAGGAGGTTCCCTGGCCCTGCAACG | CA2816822603 | PCK1 | c.539_540insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCAGGAGGTTCCCTGGCCCTGCAACG (p.Leu181TrpfsTer?) n.1749_1750insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCAGGAGGTTCCCTGGCCCTGCAACG n.481_482insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCAGGAGGTTCCCTGGCCCTGCAACG c.143_144insGTGGGACGTGCTGGGTGCTGACGGCGCCTTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCAGGAGGTTCCCTGGCCCTGCAACG (p.Leu49TrpfsTer?) | |
20 | g.57562829C>A | CA511310900 | PCK1 | c.540C>A (p.Val180=) n.1750C>A n.482C>A c.144C>A (p.Val48=) | |
20 | g.57562829C= | CA2371896292 | PCK1 | c.540C= (p.Val180=) n.1750C= n.482C= c.144C= (p.Val48=) | |
20 | g.57562829C>G | CA511310899 | PCK1 | c.540C>G (p.Val180=) n.1750C>G n.482C>G c.144C>G (p.Val48=) | dbSNP |
20 | g.57562829C>T | CA9922056 | PCK1 | c.540C>T (p.Val180=) n.1750C>T n.482C>T c.144C>T (p.Val48=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.57562830del | CA2518058309 | PCK1 | c.541del (p.Leu181TrpfsTer?) n.1751del n.483del c.145del (p.Leu49TrpfsTer?) | |
20 | g.57562829_57562838del | CA2529687719 | PCK1 | c.540_549del (p.Leu181TrpfsTer?) n.1750_1759del n.482_491del c.144_153del (p.Leu49TrpfsTer?) |