Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.75426339_75426350del | CA2674273773 | CERT1 | n.886+21_886+32del c.456+21_456+32del (n.456+21_456+32del) c.248+21_248+32del c.840+21_840+32del (n.840+21_840+32del) c.68+21_68+32del c.60+21_60+32del (n.60+21_60+32del) n.669+21_669+32del | gnomAD v4 |
5 | g.75426346C= | CA1556119710 | CERT1 | n.886+25G= c.456+25G= (n.456+25G=) c.248+25G= c.840+25G= (n.840+25G=) c.68+25G= c.60+25G= (n.60+25G=) n.669+25G= | |
5 | g.75426346C>G | CA813968474 | CERT1 | n.886+25G>C c.456+25G>C (n.456+25G>C) c.248+25G>C c.840+25G>C (n.840+25G>C) c.68+25G>C c.60+25G>C (n.60+25G>C) n.669+25G>C | dbSNP |
5 | g.75426346C>T | CA560463185 | CERT1 | n.886+25G>A c.456+25G>A (n.456+25G>A) c.248+25G>A c.840+25G>A (n.840+25G>A) c.68+25G>A c.60+25G>A (n.60+25G>A) n.669+25G>A | dbSNP gnomAD v2 gnomAD v4 |
5 | g.75426348T>C | CA2674273774 | CERT1 | n.886+23A>G c.456+23A>G (n.456+23A>G) c.248+23A>G c.840+23A>G (n.840+23A>G) c.68+23A>G c.60+23A>G (n.60+23A>G) n.669+23A>G | gnomAD v4 |
5 | g.75426349A= | CA1556119711 | CERT1 | n.886+22T= c.456+22T= (n.456+22T=) c.248+22T= c.840+22T= (n.840+22T=) c.68+22T= c.60+22T= (n.60+22T=) n.669+22T= | |
5 | g.75426349A>C | CA2674273775 | CERT1 | n.886+22T>G c.456+22T>G (n.456+22T>G) c.248+22T>G c.840+22T>G (n.840+22T>G) c.68+22T>G c.60+22T>G (n.60+22T>G) n.669+22T>G | gnomAD v4 |
5 | g.75426349A>T | CA1556119712 | CERT1 | n.886+22T>A c.456+22T>A (n.456+22T>A) c.248+22T>A c.840+22T>A (n.840+22T>A) c.68+22T>A c.60+22T>A (n.60+22T>A) n.669+22T>A | dbSNP gnomAD v4 |
5 | g.75426350A>G | CA2674273776 | CERT1 | n.886+21T>C c.456+21T>C (n.456+21T>C) c.248+21T>C c.840+21T>C (n.840+21T>C) c.68+21T>C c.60+21T>C (n.60+21T>C) n.669+21T>C | gnomAD v4 |
5 | g.75426351G>A | CA2578338948 | CERT1 | n.886+20C>T c.456+20C>T (n.456+20C>T) c.248+20C>T c.840+20C>T (n.840+20C>T) c.68+20C>T c.60+20C>T (n.60+20C>T) n.669+20C>T | gnomAD v4 |
5 | g.75426351G>C | CA1556119714 | CERT1 | n.886+20C>G c.456+20C>G (n.456+20C>G) c.248+20C>G c.840+20C>G (n.840+20C>G) c.68+20C>G c.60+20C>G (n.60+20C>G) n.669+20C>G | dbSNP |
5 | g.75426351G= | CA1556119713 | CERT1 | n.886+20C= c.456+20C= (n.456+20C=) c.248+20C= c.840+20C= (n.840+20C=) c.68+20C= c.60+20C= (n.60+20C=) n.669+20C= | |
5 | g.75426351G>T | CA2578338949 | CERT1 | n.886+20C>A c.456+20C>A (n.456+20C>A) c.248+20C>A c.840+20C>A (n.840+20C>A) c.68+20C>A c.60+20C>A (n.60+20C>A) n.669+20C>A | gnomAD v4 |
5 | g.75426352G>A | CA2674273777 | CERT1 | n.886+19C>T c.456+19C>T (n.456+19C>T) c.248+19C>T c.840+19C>T (n.840+19C>T) c.68+19C>T c.60+19C>T (n.60+19C>T) n.669+19C>T | gnomAD v4 |
5 | g.75426352G= | CA1556119715 | CERT1 | n.886+19C= c.456+19C= (n.456+19C=) c.248+19C= c.840+19C= (n.840+19C=) c.68+19C= c.60+19C= (n.60+19C=) n.669+19C= | |
5 | g.75426352G>T | CA560463187 | CERT1 | n.886+19C>A c.456+19C>A (n.456+19C>A) c.248+19C>A c.840+19C>A (n.840+19C>A) c.68+19C>A c.60+19C>A (n.60+19C>A) n.669+19C>A | dbSNP gnomAD v2 gnomAD v4 |
5 | g.75426353C>A | CA3309270 | CERT1 | n.886+18G>T c.456+18G>T (n.456+18G>T) c.248+18G>T c.840+18G>T (n.840+18G>T) c.68+18G>T c.60+18G>T (n.60+18G>T) n.669+18G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.75426353C= | CA1556119716 | CERT1 | n.886+18G= c.456+18G= (n.456+18G=) c.248+18G= c.840+18G= (n.840+18G=) c.68+18G= c.60+18G= (n.60+18G=) n.669+18G= | |
5 | g.75426353C>T | CA3309271 | CERT1 | n.886+18G>A c.456+18G>A (n.456+18G>A) c.248+18G>A c.840+18G>A (n.840+18G>A) c.68+18G>A c.60+18G>A (n.60+18G>A) n.669+18G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.75426354_75426356del | CA2674273778 | CERT1 | n.886+16_886+18del c.456+16_456+18del (n.456+16_456+18del) c.248+16_248+18del c.840+16_840+18del (n.840+16_840+18del) c.68+16_68+18del c.60+16_60+18del (n.60+16_60+18del) n.669+16_669+18del | gnomAD v4 |
5 | g.75426354A>T | CA2674273779 | CERT1 | n.886+17T>A c.456+17T>A (n.456+17T>A) c.248+17T>A c.840+17T>A (n.840+17T>A) c.68+17T>A c.60+17T>A (n.60+17T>A) n.669+17T>A | gnomAD v4 |
5 | g.75426355T>C | CA2578338950 | CERT1 | n.886+16A>G c.456+16A>G (n.456+16A>G) c.248+16A>G c.840+16A>G (n.840+16A>G) c.68+16A>G c.60+16A>G (n.60+16A>G) n.669+16A>G | |
5 | g.75426357C>T | CA2578338951 | CERT1 | n.886+14G>A c.456+14G>A (n.456+14G>A) c.248+14G>A c.840+14G>A (n.840+14G>A) c.68+14G>A c.60+14G>A (n.60+14G>A) n.669+14G>A | gnomAD v4 |
5 | g.75426358A= | CA1556119717 | CERT1 | n.886+13T= c.456+13T= (n.456+13T=) c.248+13T= c.840+13T= (n.840+13T=) c.68+13T= c.60+13T= (n.60+13T=) n.669+13T= | |
5 | g.75426358A>G | CA3309272 | CERT1 | n.886+13T>C c.456+13T>C (n.456+13T>C) c.248+13T>C c.840+13T>C (n.840+13T>C) c.68+13T>C c.60+13T>C (n.60+13T>C) n.669+13T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.75426358A>T | CA2674273780 | CERT1 | n.886+13T>A c.456+13T>A (n.456+13T>A) c.248+13T>A c.840+13T>A (n.840+13T>A) c.68+13T>A c.60+13T>A (n.60+13T>A) n.669+13T>A | gnomAD v4 |
5 | g.75426361_75426370del | CA2674273781 | CERT1 | n.886+1_886+10del c.456+1_456+10del (n.456+1_456+10del) c.248+1_248+10del c.840+1_840+10del (n.840+1_840+10del) c.68+1_68+10del c.60+1_60+10del (n.60+1_60+10del) n.669+1_669+10del | gnomAD v4 |
5 | g.75426362A= | CA1556119718 | CERT1 | n.886+9T= c.456+9T= (n.456+9T=) c.248+9T= c.840+9T= (n.840+9T=) c.68+9T= c.60+9T= (n.60+9T=) n.669+9T= | |
5 | g.75426362A>T | CA560463189 | CERT1 | n.886+9T>A c.456+9T>A (n.456+9T>A) c.248+9T>A c.840+9T>A (n.840+9T>A) c.68+9T>A c.60+9T>A (n.60+9T>A) n.669+9T>A | dbSNP gnomAD v2 gnomAD v4 |
5 | g.75426363C= | CA1556119719 | CERT1 | n.886+8G= c.456+8G= (n.456+8G=) c.248+8G= c.840+8G= (n.840+8G=) c.68+8G= c.60+8G= (n.60+8G=) n.669+8G= | |
5 | g.75426363C>G | CA3309273 | CERT1 | n.886+8G>C c.456+8G>C (n.456+8G>C) c.248+8G>C c.840+8G>C (n.840+8G>C) c.68+8G>C c.60+8G>C (n.60+8G>C) n.669+8G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.75426363C>T | CA560463191 | CERT1 | n.886+8G>A c.456+8G>A (n.456+8G>A) c.248+8G>A c.840+8G>A (n.840+8G>A) c.68+8G>A c.60+8G>A (n.60+8G>A) n.669+8G>A | dbSNP gnomAD v2 gnomAD v4 |
5 | g.75426364T>C | CA560463192 | CERT1 | n.886+7A>G c.456+7A>G (n.456+7A>G) c.248+7A>G c.840+7A>G (n.840+7A>G) c.68+7A>G c.60+7A>G (n.60+7A>G) n.669+7A>G | dbSNP gnomAD v2 gnomAD v4 |
5 | g.75426364T>G | CA2674273782 | CERT1 | n.886+7A>C c.456+7A>C (n.456+7A>C) c.248+7A>C c.840+7A>C (n.840+7A>C) c.68+7A>C c.60+7A>C (n.60+7A>C) n.669+7A>C | gnomAD v4 |
5 | g.75426364T= | CA1556119720 | CERT1 | n.886+7A= c.456+7A= (n.456+7A=) c.248+7A= c.840+7A= (n.840+7A=) c.68+7A= c.60+7A= (n.60+7A=) n.669+7A= | |
5 | g.75426365A>G | CA2674273783 | CERT1 | n.886+6T>C c.456+6T>C (n.456+6T>C) c.248+6T>C c.840+6T>C (n.840+6T>C) c.68+6T>C c.60+6T>C (n.60+6T>C) n.669+6T>C | gnomAD v4 |
5 | g.75426365A>T | CA2674273784 | CERT1 | n.886+6T>A c.456+6T>A (n.456+6T>A) c.248+6T>A c.840+6T>A (n.840+6T>A) c.68+6T>A c.60+6T>A (n.60+6T>A) n.669+6T>A | gnomAD v4 |
5 | g.75426366C>A | CA2674273785 | CERT1 | n.886+5G>T c.456+5G>T (n.456+5G>T) c.248+5G>T c.840+5G>T (n.840+5G>T) c.68+5G>T c.60+5G>T (n.60+5G>T) n.669+5G>T | gnomAD v4 |
5 | g.75426366C= | CA1556119721 | CERT1 | n.886+5G= c.456+5G= (n.456+5G=) c.248+5G= c.840+5G= (n.840+5G=) c.68+5G= c.60+5G= (n.60+5G=) n.669+5G= | |
5 | g.75426366C>G | CA1556119722 | CERT1 | n.886+5G>C c.456+5G>C (n.456+5G>C) c.248+5G>C c.840+5G>C (n.840+5G>C) c.68+5G>C c.60+5G>C (n.60+5G>C) n.669+5G>C | dbSNP |
5 | g.75426366C>T | CA120924533 | CERT1 | n.886+5G>A c.456+5G>A (n.456+5G>A) c.248+5G>A c.840+5G>A (n.840+5G>A) c.68+5G>A c.60+5G>A (n.60+5G>A) n.669+5G>A | dbSNP gnomAD v4 |
5 | g.75426367A= | CA1556119723 | CERT1 | n.886+4T= c.456+4T= (n.456+4T=) c.248+4T= c.840+4T= (n.840+4T=) c.68+4T= c.60+4T= (n.60+4T=) n.669+4T= | |
5 | g.75426367A>G | CA3309274 | CERT1 | n.886+4T>C c.456+4T>C (n.456+4T>C) c.248+4T>C c.840+4T>C (n.840+4T>C) c.68+4T>C c.60+4T>C (n.60+4T>C) n.669+4T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.75426368C>T | CA2578338952 | CERT1 | n.886+3G>A c.456+3G>A (n.456+3G>A) c.248+3G>A c.840+3G>A (n.840+3G>A) c.68+3G>A c.60+3G>A (n.60+3G>A) n.669+3G>A | gnomAD v4 |
5 | g.75426369A= | CA1556119724 | CERT1 | n.886+2T= c.456+2T= (n.456+2T=) c.248+2T= c.840+2T= (n.840+2T=) c.68+2T= c.60+2T= (n.60+2T=) n.669+2T= | |
5 | g.75426369A>C | CA360136665 | CERT1 | n.886+2T>G c.456+2T>G (n.456+2T>G) c.248+2T>G c.840+2T>G (n.840+2T>G) c.68+2T>G c.60+2T>G (n.60+2T>G) n.669+2T>G | dbSNP |
5 | g.75426369A>G | CA360136667 | CERT1 | n.886+2T>C c.456+2T>C (n.456+2T>C) c.248+2T>C c.840+2T>C (n.840+2T>C) c.68+2T>C c.60+2T>C (n.60+2T>C) n.669+2T>C | |
5 | g.75426369A>T | CA360136670 | CERT1 | n.886+2T>A c.456+2T>A (n.456+2T>A) c.248+2T>A c.840+2T>A (n.840+2T>A) c.68+2T>A c.60+2T>A (n.60+2T>A) n.669+2T>A | |
5 | g.75426370C>A | CA360136672 | CERT1 | n.886+1G>T c.456+1G>T (n.456+1G>T) c.248+1G>T c.840+1G>T (n.840+1G>T) c.68+1G>T c.60+1G>T (n.60+1G>T) n.669+1G>T | |
5 | g.75426370C>G | CA360136674 | CERT1 | n.886+1G>C c.456+1G>C (n.456+1G>C) c.248+1G>C c.840+1G>C (n.840+1G>C) c.68+1G>C c.60+1G>C (n.60+1G>C) n.669+1G>C | |
5 | g.75426370C>T | CA360136673 | CERT1 | n.886+1G>A c.456+1G>A (n.456+1G>A) c.248+1G>A c.840+1G>A (n.840+1G>A) c.68+1G>A c.60+1G>A (n.60+1G>A) n.669+1G>A | COSMIC |
5 | g.75426371C>A | CA360136676 | CERT1 | n.886G>T c.456G>T (p.Lys152Asn) c.248G>T c.840G>T (p.Lys280Asn) c.68G>T c.60G>T (p.Lys20Asn) n.669G>T | |
5 | g.75426371C>G | CA360136679 | CERT1 | n.886G>C c.456G>C (p.Lys152Asn) c.248G>C c.840G>C (p.Lys280Asn) c.68G>C c.60G>C (p.Lys20Asn) n.669G>C | |
5 | g.75426371C>T | CA444681080 | CERT1 | n.886G>A c.456G>A (p.Lys152=) c.248G>A c.840G>A (p.Lys280=) c.68G>A c.60G>A (p.Lys20=) n.669G>A | |
5 | g.75426372T>A | CA360136685 | CERT1 | n.885A>T c.455A>T (p.Lys152Met) c.247A>T c.839A>T (p.Lys280Met) c.67A>T c.59A>T (p.Lys20Met) n.668A>T | |
5 | g.75426372T>C | CA360136687 | CERT1 | n.885A>G c.455A>G (p.Lys152Arg) c.247A>G c.839A>G (p.Lys280Arg) c.67A>G c.59A>G (p.Lys20Arg) n.668A>G | |
5 | g.75426372T>G | CA360136693 | CERT1 | n.885A>C c.455A>C (p.Lys152Thr) c.247A>C c.839A>C (p.Lys280Thr) c.67A>C c.59A>C (p.Lys20Thr) n.668A>C | |
5 | g.75426373T>A | CA360136696 | CERT1 | n.884A>T c.454A>T (p.Lys152Ter) c.246A>T c.838A>T (p.Lys280Ter) c.66A>T c.58A>T (p.Lys20Ter) n.667A>T | |
5 | g.75426373T>C | CA360136698 | CERT1 | n.884A>G c.454A>G (p.Lys152Glu) c.246A>G c.838A>G (p.Lys280Glu) c.66A>G c.58A>G (p.Lys20Glu) n.667A>G | |
5 | g.75426373T>G | CA360136702 | CERT1 | n.884A>C c.454A>C (p.Lys152Gln) c.246A>C c.838A>C (p.Lys280Gln) c.66A>C c.58A>C (p.Lys20Gln) n.667A>C | |
5 | g.75426374G>A | CA3309275 | CERT1 | n.883C>T c.453C>T (p.Phe151=) c.245C>T c.837C>T (p.Phe279=) c.65C>T c.57C>T (p.Phe19=) n.666C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.75426374G>C | CA360136704 | CERT1 | n.883C>G c.453C>G (p.Phe151Leu) c.245C>G c.837C>G (p.Phe279Leu) c.65C>G c.57C>G (p.Phe19Leu) n.666C>G | |
5 | g.75426374G= | CA1556119725 | CERT1 | n.883C= c.453C= (p.Phe151=) c.245C= c.837C= (p.Phe279=) c.65C= c.57C= (p.Phe19=) n.666C= | |
5 | g.75426374G>T | CA360136707 | CERT1 | n.883C>A c.453C>A (p.Phe151Leu) c.245C>A c.837C>A (p.Phe279Leu) c.65C>A c.57C>A (p.Phe19Leu) n.666C>A | gnomAD v4 |
5 | g.75426375A>C | CA360136715 | CERT1 | n.882T>G c.452T>G (p.Phe151Cys) c.244T>G c.836T>G (p.Phe279Cys) c.64T>G c.56T>G (p.Phe19Cys) n.665T>G | |
5 | g.75426375A>G | CA360136717 | CERT1 | n.882T>C c.452T>C (p.Phe151Ser) c.244T>C c.836T>C (p.Phe279Ser) c.64T>C c.56T>C (p.Phe19Ser) n.665T>C | |
5 | g.75426375A>T | CA360136711 | CERT1 | n.882T>A c.452T>A (p.Phe151Tyr) c.244T>A c.836T>A (p.Phe279Tyr) c.64T>A c.56T>A (p.Phe19Tyr) n.665T>A | |
5 | g.75426376A>C | CA360136720 | CERT1 | n.881T>G c.451T>G (p.Phe151Val) c.243T>G c.835T>G (p.Phe279Val) c.63T>G c.55T>G (p.Phe19Val) n.664T>G | |
5 | g.75426376A>G | CA360136723 | CERT1 | n.881T>C c.451T>C (p.Phe151Leu) c.243T>C c.835T>C (p.Phe279Leu) c.63T>C c.55T>C (p.Phe19Leu) n.664T>C | |
5 | g.75426376A>T | CA360136726 | CERT1 | n.881T>A c.451T>A (p.Phe151Ile) c.243T>A c.835T>A (p.Phe279Ile) c.63T>A c.55T>A (p.Phe19Ile) n.664T>A | |
5 | g.75426377T>A | CA444681104 | CERT1 | n.880A>T c.450A>T (p.Ser150=) c.242A>T c.834A>T (p.Ser278=) c.62A>T c.54A>T (p.Ser18=) n.663A>T | |
5 | g.75426377T>C | CA3309276 | CERT1 | n.880A>G c.450A>G (p.Ser150=) c.242A>G c.834A>G (p.Ser278=) c.62A>G c.54A>G (p.Ser18=) n.663A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.75426377T>G | CA444681112 | CERT1 | n.880A>C c.450A>C (p.Ser150=) c.242A>C c.834A>C (p.Ser278=) c.62A>C c.54A>C (p.Ser18=) n.663A>C | |
5 | g.75426377T= | CA1556119726 | CERT1 | n.880A= c.450A= (p.Ser150=) c.242A= c.834A= (p.Ser278=) c.62A= c.54A= (p.Ser18=) n.663A= | |
5 | g.75426378G>A | CA360136731 | CERT1 | n.879C>T c.449C>T (p.Ser150Leu) c.241C>T c.833C>T (p.Ser278Leu) c.61C>T c.53C>T (p.Ser18Leu) n.662C>T | |
5 | g.75426378G>C | CA360136733 | CERT1 | n.879C>G c.449C>G (p.Ser150Ter) c.241C>G c.833C>G (p.Ser278Ter) c.61C>G c.53C>G (p.Ser18Ter) n.662C>G | |
5 | g.75426378G>T | CA360136735 | CERT1 | n.879C>A c.449C>A (p.Ser150Ter) c.241C>A c.833C>A (p.Ser278Ter) c.61C>A c.53C>A (p.Ser18Ter) n.662C>A | gnomAD v4 |
5 | g.75426379A>C | CA360136737 | CERT1 | n.878T>G c.448T>G (p.Ser150Ala) c.240T>G c.832T>G (p.Ser278Ala) c.60T>G c.52T>G (p.Ser18Ala) n.661T>G | |
5 | g.75426379A>G | CA360136739 | CERT1 | n.878T>C c.448T>C (p.Ser150Pro) c.240T>C c.832T>C (p.Ser278Pro) c.60T>C c.52T>C (p.Ser18Pro) n.661T>C | |
5 | g.75426379A>T | CA360136742 | CERT1 | n.878T>A c.448T>A (p.Ser150Thr) c.240T>A c.832T>A (p.Ser278Thr) c.60T>A c.52T>A (p.Ser18Thr) n.661T>A | |
5 | g.75426380A>C | CA444681119 | CERT1 | n.877T>G c.447T>G (p.Ser149=) c.239T>G c.831T>G (p.Ser277=) c.59T>G c.51T>G (p.Ser17=) n.660T>G | gnomAD v4 |
5 | g.75426380A>G | CA444681120 | CERT1 | n.877T>C c.447T>C (p.Ser149=) c.239T>C c.831T>C (p.Ser277=) c.59T>C c.51T>C (p.Ser17=) n.660T>C | |
5 | g.75426380A>T | CA444681122 | CERT1 | n.877T>A c.447T>A (p.Ser149=) c.239T>A c.831T>A (p.Ser277=) c.59T>A c.51T>A (p.Ser17=) n.660T>A | |
5 | g.75426381G>A | CA360136743 | CERT1 | n.876C>T c.446C>T (p.Ser149Phe) c.238C>T c.830C>T (p.Ser277Phe) c.58C>T c.50C>T (p.Ser17Phe) n.659C>T | |
5 | g.75426381G>C | CA360136746 | CERT1 | n.876C>G c.446C>G (p.Ser149Cys) c.238C>G c.830C>G (p.Ser277Cys) c.58C>G c.50C>G (p.Ser17Cys) n.659C>G | |
5 | g.75426381G>T | CA360136748 | CERT1 | n.876C>A c.446C>A (p.Ser149Tyr) c.238C>A c.830C>A (p.Ser277Tyr) c.58C>A c.50C>A (p.Ser17Tyr) n.659C>A | |
5 | g.75426382A>C | CA360136758 | CERT1 | n.875T>G c.445T>G (p.Ser149Ala) c.237T>G c.829T>G (p.Ser277Ala) c.57T>G c.49T>G (p.Ser17Ala) n.658T>G | |
5 | g.75426382A>G | CA360136755 | CERT1 | n.875T>C c.445T>C (p.Ser149Pro) c.237T>C c.829T>C (p.Ser277Pro) c.57T>C c.49T>C (p.Ser17Pro) n.658T>C | |
5 | g.75426382A>T | CA360136752 | CERT1 | n.875T>A c.445T>A (p.Ser149Thr) c.237T>A c.829T>A (p.Ser277Thr) c.57T>A c.49T>A (p.Ser17Thr) n.658T>A | |
5 | g.75426383G>A | CA444681136 | CERT1 | n.874C>T c.444C>T (p.Thr148=) c.236C>T c.828C>T (p.Thr276=) c.56C>T c.48C>T (p.Thr16=) n.657C>T | |
5 | g.75426383G>C | CA444681135 | CERT1 | n.874C>G c.444C>G (p.Thr148=) c.236C>G c.828C>G (p.Thr276=) c.56C>G c.48C>G (p.Thr16=) n.657C>G | dbSNP gnomAD v2 gnomAD v4 |
5 | g.75426383G= | CA1556119727 | CERT1 | n.874C= c.444C= (p.Thr148=) c.236C= c.828C= (p.Thr276=) c.56C= c.48C= (p.Thr16=) n.657C= | |
5 | g.75426383G>T | CA444681134 | CERT1 | n.874C>A c.444C>A (p.Thr148=) c.236C>A c.828C>A (p.Thr276=) c.56C>A c.48C>A (p.Thr16=) n.657C>A | gnomAD v4 |
5 | g.75426384G>A | CA120924582 | CERT1 | n.873C>T c.443C>T (p.Thr148Ile) c.235C>T c.827C>T (p.Thr276Ile) c.55C>T c.47C>T (p.Thr16Ile) n.656C>T | dbSNP gnomAD v2 gnomAD v4 |
5 | g.75426384G>C | CA360136763 | CERT1 | n.873C>G c.443C>G (p.Thr148Ser) c.235C>G c.827C>G (p.Thr276Ser) c.55C>G c.47C>G (p.Thr16Ser) n.656C>G | |
5 | g.75426384G= | CA1556119728 | CERT1 | n.873C= c.443C= (p.Thr148=) c.235C= c.827C= (p.Thr276=) c.55C= c.47C= (p.Thr16=) n.656C= | |
5 | g.75426384G>T | CA360136766 | CERT1 | n.873C>A c.443C>A (p.Thr148Asn) c.235C>A c.827C>A (p.Thr276Asn) c.55C>A c.47C>A (p.Thr16Asn) n.656C>A | |
5 | g.75426385T>A | CA360136770 | CERT1 | n.872A>T c.442A>T (p.Thr148Ser) c.234A>T c.826A>T (p.Thr276Ser) c.54A>T c.46A>T (p.Thr16Ser) n.655A>T | |
5 | g.75426385T>C | CA360136774 | CERT1 | n.872A>G c.442A>G (p.Thr148Ala) c.234A>G c.826A>G (p.Thr276Ala) c.54A>G c.46A>G (p.Thr16Ala) n.655A>G | |
5 | g.75426385T>G | CA360136775 | CERT1 | n.872A>C c.442A>C (p.Thr148Pro) c.234A>C c.826A>C (p.Thr276Pro) c.54A>C c.46A>C (p.Thr16Pro) n.655A>C | |
5 | g.75426386G>A | CA444681145 | CERT1 | n.871C>T c.441C>T (p.Ser147=) c.233C>T c.825C>T (p.Ser275=) c.53C>T c.45C>T (p.Ser15=) n.654C>T | |
5 | g.75426386G>C | CA444681142 | CERT1 | n.871C>G c.441C>G (p.Ser147=) c.233C>G c.825C>G (p.Ser275=) c.53C>G c.45C>G (p.Ser15=) n.654C>G | |
5 | g.75426386G>T | CA444681141 | CERT1 | n.871C>A c.441C>A (p.Ser147=) c.233C>A c.825C>A (p.Ser275=) c.53C>A c.45C>A (p.Ser15=) n.654C>A | |
5 | g.75426387G>A | CA360136779 | CERT1 | n.870C>T c.440C>T (p.Ser147Phe) c.232C>T c.824C>T (p.Ser275Phe) c.52C>T c.44C>T (p.Ser15Phe) n.653C>T | |
5 | g.75426387G>C | CA360136780 | CERT1 | n.870C>G c.440C>G (p.Ser147Cys) c.232C>G c.824C>G (p.Ser275Cys) c.52C>G c.44C>G (p.Ser15Cys) n.653C>G | |
5 | g.75426387G>T | CA360136783 | CERT1 | n.870C>A c.440C>A (p.Ser147Tyr) c.232C>A c.824C>A (p.Ser275Tyr) c.52C>A c.44C>A (p.Ser15Tyr) n.653C>A | |
5 | g.75426388A>C | CA360136786 | CERT1 | n.869T>G c.439T>G (p.Ser147Ala) c.231T>G c.823T>G (p.Ser275Ala) c.51T>G c.43T>G (p.Ser15Ala) n.652T>G | |
5 | g.75426388A>G | CA360136787 | CERT1 | n.869T>C c.439T>C (p.Ser147Pro) c.231T>C c.823T>C (p.Ser275Pro) c.51T>C c.43T>C (p.Ser15Pro) n.652T>C | |
5 | g.75426388A>T | CA360136795 | CERT1 | n.869T>A c.439T>A (p.Ser147Thr) c.231T>A c.823T>A (p.Ser275Thr) c.51T>A c.43T>A (p.Ser15Thr) n.652T>A | |
5 | g.75426389T>A | CA444681152 | CERT1 | n.868A>T c.438A>T (p.Thr146=) c.230A>T c.822A>T (p.Thr274=) c.50A>T c.42A>T (p.Thr14=) n.651A>T | |
5 | g.75426389T>C | CA444681155 | CERT1 | n.868A>G c.438A>G (p.Thr146=) c.230A>G c.822A>G (p.Thr274=) c.50A>G c.42A>G (p.Thr14=) n.651A>G | dbSNP gnomAD v4 |
5 | g.75426389T>G | CA444681153 | CERT1 | n.868A>C c.438A>C (p.Thr146=) c.230A>C c.822A>C (p.Thr274=) c.50A>C c.42A>C (p.Thr14=) n.651A>C | |
5 | g.75426389T= | CA1556119729 | CERT1 | n.868A= c.438A= (p.Thr146=) c.230A= c.822A= (p.Thr274=) c.50A= c.42A= (p.Thr14=) n.651A= | |
5 | g.75426390G>A | CA360136808 | CERT1 | n.867C>T c.437C>T (p.Thr146Ile) c.229C>T c.821C>T (p.Thr274Ile) c.49C>T c.41C>T (p.Thr14Ile) n.650C>T | |
5 | g.75426390G>C | CA360136810 | CERT1 | n.867C>G c.437C>G (p.Thr146Arg) c.229C>G c.821C>G (p.Thr274Arg) c.49C>G c.41C>G (p.Thr14Arg) n.650C>G | |
5 | g.75426390G>T | CA360136811 | CERT1 | n.867C>A c.437C>A (p.Thr146Lys) c.229C>A c.821C>A (p.Thr274Lys) c.49C>A c.41C>A (p.Thr14Lys) n.650C>A | |
5 | g.75426391T>A | CA360136829 | CERT1 | n.866A>T c.436A>T (p.Thr146Ser) c.228A>T c.820A>T (p.Thr274Ser) c.48A>T c.40A>T (p.Thr14Ser) n.649A>T | |
5 | g.75426391T>C | CA360136832 | CERT1 | n.866A>G c.436A>G (p.Thr146Ala) c.228A>G c.820A>G (p.Thr274Ala) c.48A>G c.40A>G (p.Thr14Ala) n.649A>G | gnomAD v4 |
5 | g.75426391T>G | CA360136822 | CERT1 | n.866A>C c.436A>C (p.Thr146Pro) c.228A>C c.820A>C (p.Thr274Pro) c.48A>C c.40A>C (p.Thr14Pro) n.649A>C | |
5 | g.75426392T>A | CA444681167 | CERT1 | n.865A>T c.435A>T (p.Ala145=) c.227A>T c.819A>T (p.Ala273=) c.47A>T c.39A>T (p.Ala13=) n.648A>T | |
5 | g.75426392T>C | CA444681169 | CERT1 | n.865A>G c.435A>G (p.Ala145=) c.227A>G c.819A>G (p.Ala273=) c.47A>G c.39A>G (p.Ala13=) n.648A>G | |
5 | g.75426392T>G | CA444681170 | CERT1 | n.865A>C c.435A>C (p.Ala145=) c.227A>C c.819A>C (p.Ala273=) c.47A>C c.39A>C (p.Ala13=) n.648A>C | |
5 | g.75426393G>A | CA360136835 | CERT1 | n.864C>T c.434C>T (p.Ala145Val) c.226C>T c.818C>T (p.Ala273Val) c.46C>T c.38C>T (p.Ala13Val) n.647C>T | gnomAD v4 |
5 | g.75426393G>C | CA360136838 | CERT1 | n.864C>G c.434C>G (p.Ala145Gly) c.226C>G c.818C>G (p.Ala273Gly) c.46C>G c.38C>G (p.Ala13Gly) n.647C>G | |
5 | g.75426393G>T | CA360136843 | CERT1 | n.864C>A c.434C>A (p.Ala145Glu) c.226C>A c.818C>A (p.Ala273Glu) c.46C>A c.38C>A (p.Ala13Glu) n.647C>A | |
5 | g.75426394C>A | CA360136846 | CERT1 | n.863G>T c.433G>T (p.Ala145Ser) c.225G>T c.817G>T (p.Ala273Ser) c.45G>T c.37G>T (p.Ala13Ser) n.646G>T | |
5 | g.75426394C>G | CA360136852 | CERT1 | n.863G>C c.433G>C (p.Ala145Pro) c.225G>C c.817G>C (p.Ala273Pro) c.45G>C c.37G>C (p.Ala13Pro) n.646G>C | |
5 | g.75426394C>T | CA360136856 | CERT1 | n.863G>A c.433G>A (p.Ala145Thr) c.225G>A c.817G>A (p.Ala273Thr) c.45G>A c.37G>A (p.Ala13Thr) n.646G>A | gnomAD v4 |
5 | g.75426395A>C | CA444681181 | CERT1 | n.862T>G c.432T>G (p.Ser144=) c.224T>G c.816T>G (p.Ser272=) c.44T>G c.36T>G (p.Ser12=) n.645T>G | |
5 | g.75426395A>G | CA444681183 | CERT1 | n.862T>C c.432T>C (p.Ser144=) c.224T>C c.816T>C (p.Ser272=) c.44T>C c.36T>C (p.Ser12=) n.645T>C | |
5 | g.75426395A>T | CA444681184 | CERT1 | n.862T>A c.432T>A (p.Ser144=) c.224T>A c.816T>A (p.Ser272=) c.44T>A c.36T>A (p.Ser12=) n.645T>A | |
5 | g.75426396G>A | CA360136861 | CERT1 | n.861C>T c.431C>T (p.Ser144Phe) c.223C>T c.815C>T (p.Ser272Phe) c.43C>T c.35C>T (p.Ser12Phe) n.644C>T | |
5 | g.75426396G>C | CA360136859 | CERT1 | n.861C>G c.431C>G (p.Ser144Cys) c.223C>G c.815C>G (p.Ser272Cys) c.43C>G c.35C>G (p.Ser12Cys) n.644C>G | |
5 | g.75426396G>T | CA360136860 | CERT1 | n.861C>A c.431C>A (p.Ser144Tyr) c.223C>A c.815C>A (p.Ser272Tyr) c.43C>A c.35C>A (p.Ser12Tyr) n.644C>A | |
5 | g.75426397A>C | CA360136863 | CERT1 | n.860T>G c.430T>G (p.Ser144Ala) c.222T>G c.814T>G (p.Ser272Ala) c.42T>G c.34T>G (p.Ser12Ala) n.643T>G | |
5 | g.75426397A>G | CA360136864 | CERT1 | n.860T>C c.430T>C (p.Ser144Pro) c.222T>C c.814T>C (p.Ser272Pro) c.42T>C c.34T>C (p.Ser12Pro) n.643T>C | |
5 | g.75426397A>T | CA360136865 | CERT1 | n.860T>A c.430T>A (p.Ser144Thr) c.222T>A c.814T>A (p.Ser272Thr) c.42T>A c.34T>A (p.Ser12Thr) n.643T>A | |
5 | g.75426398G>A | CA444681199 | CERT1 | n.859C>T c.429C>T (p.Tyr143=) c.221C>T c.813C>T (p.Tyr271=) c.41C>T c.33C>T (p.Tyr11=) n.642C>T | dbSNP |
5 | g.75426398G>C | CA360136866 | CERT1 | n.859C>G c.429C>G (p.Tyr143Ter) c.221C>G c.813C>G (p.Tyr271Ter) c.41C>G c.33C>G (p.Tyr11Ter) n.642C>G | |
5 | g.75426398G= | CA1556119730 | CERT1 | n.859C= c.429C= (p.Tyr143=) c.221C= c.813C= (p.Tyr271=) c.41C= c.33C= (p.Tyr11=) n.642C= | |
5 | g.75426398G>T | CA3309277 | CERT1 | n.859C>A c.429C>A (p.Tyr143Ter) c.221C>A c.813C>A (p.Tyr271Ter) c.41C>A c.33C>A (p.Tyr11Ter) n.642C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.75426399T>A | CA360136868 | CERT1 | n.858A>T c.428A>T (p.Tyr143Phe) c.220A>T c.812A>T (p.Tyr271Phe) c.40A>T c.32A>T (p.Tyr11Phe) n.641A>T | |
5 | g.75426399T>C | CA360136874 | CERT1 | n.858A>G c.428A>G (p.Tyr143Cys) c.220A>G c.812A>G (p.Tyr271Cys) c.40A>G c.32A>G (p.Tyr11Cys) n.641A>G | gnomAD v4 |
5 | g.75426399T>G | CA360136871 | CERT1 | n.858A>C c.428A>C (p.Tyr143Ser) c.220A>C c.812A>C (p.Tyr271Ser) c.40A>C c.32A>C (p.Tyr11Ser) n.641A>C | |
5 | g.75426400A>C | CA360136877 | CERT1 | n.857T>G c.427T>G (p.Tyr143Asp) c.219T>G c.811T>G (p.Tyr271Asp) c.39T>G c.31T>G (p.Tyr11Asp) n.640T>G | |
5 | g.75426400A>G | CA360136880 | CERT1 | n.857T>C c.427T>C (p.Tyr143His) c.219T>C c.811T>C (p.Tyr271His) c.39T>C c.31T>C (p.Tyr11His) n.640T>C | |
5 | g.75426400A>T | CA360136883 | CERT1 | n.857T>A c.427T>A (p.Tyr143Asn) c.219T>A c.811T>A (p.Tyr271Asn) c.39T>A c.31T>A (p.Tyr11Asn) n.640T>A | |
5 | g.75426401G>A | CA444681204 | CERT1 | n.856C>T c.426C>T (p.Gly142=) c.218C>T c.810C>T (p.Gly270=) c.38C>T c.30C>T (p.Gly10=) n.639C>T | gnomAD v4 |
5 | g.75426401G>C | CA444681206 | CERT1 | n.856C>G c.426C>G (p.Gly142=) c.218C>G c.810C>G (p.Gly270=) c.38C>G c.30C>G (p.Gly10=) n.639C>G | |
5 | g.75426401G>T | CA444681208 | CERT1 | n.856C>A c.426C>A (p.Gly142=) c.218C>A c.810C>A (p.Gly270=) c.38C>A c.30C>A (p.Gly10=) n.639C>A | gnomAD v4 |
5 | g.75426402C>A | CA360136886 | CERT1 | n.855G>T c.425G>T (p.Gly142Val) c.217G>T c.809G>T (p.Gly270Val) c.37G>T c.29G>T (p.Gly10Val) n.638G>T | |
5 | g.75426402C>G | CA360136888 | CERT1 | n.855G>C c.425G>C (p.Gly142Ala) c.217G>C c.809G>C (p.Gly270Ala) c.37G>C c.29G>C (p.Gly10Ala) n.638G>C | |
5 | g.75426402C>T | CA360136891 | CERT1 | n.855G>A c.425G>A (p.Gly142Asp) c.217G>A c.809G>A (p.Gly270Asp) c.37G>A c.29G>A (p.Gly10Asp) n.638G>A | |
5 | g.75426403C>A | CA360136894 | CERT1 | n.854G>T c.424G>T (p.Gly142Cys) c.216G>T c.808G>T (p.Gly270Cys) c.36G>T c.28G>T (p.Gly10Cys) n.637G>T | |
5 | g.75426403C>G | CA360136896 | CERT1 | n.854G>C c.424G>C (p.Gly142Arg) c.216G>C c.808G>C (p.Gly270Arg) c.36G>C c.28G>C (p.Gly10Arg) n.637G>C | |
5 | g.75426403C>T | CA360136897 | CERT1 | n.854G>A c.424G>A (p.Gly142Ser) c.216G>A c.808G>A (p.Gly270Ser) c.36G>A c.28G>A (p.Gly10Ser) n.637G>A | gnomAD v4 |
5 | g.75426404A= | CA1556119731 | CERT1 | n.853T= c.423T= (p.Ser141=) c.215T= c.807T= (p.Ser269=) c.35T= c.27T= (p.Ser9=) n.636T= | |
5 | g.75426404A>C | CA360136899 | CERT1 | n.853T>G c.423T>G (p.Ser141Arg) c.215T>G c.807T>G (p.Ser269Arg) c.35T>G c.27T>G (p.Ser9Arg) n.636T>G | |
5 | g.75426404A>G | CA444681217 | CERT1 | n.853T>C c.423T>C (p.Ser141=) c.215T>C c.807T>C (p.Ser269=) c.35T>C c.27T>C (p.Ser9=) n.636T>C | dbSNP |
5 | g.75426404A>T | CA360136901 | CERT1 | n.853T>A c.423T>A (p.Ser141Arg) c.215T>A c.807T>A (p.Ser269Arg) c.35T>A c.27T>A (p.Ser9Arg) n.636T>A | |
5 | g.75426405C>A | CA360136905 | CERT1 | n.852G>T c.422G>T (p.Ser141Ile) c.214G>T c.806G>T (p.Ser269Ile) c.34G>T c.26G>T (p.Ser9Ile) n.635G>T | |
5 | g.75426405C>G | CA360136910 | CERT1 | n.852G>C c.422G>C (p.Ser141Thr) c.214G>C c.806G>C (p.Ser269Thr) c.34G>C c.26G>C (p.Ser9Thr) n.635G>C | |
5 | g.75426405C>T | CA360136908 | CERT1 | n.852G>A c.422G>A (p.Ser141Asn) c.214G>A c.806G>A (p.Ser269Asn) c.34G>A c.26G>A (p.Ser9Asn) n.635G>A | |
5 | g.75426406T>A | CA360136913 | CERT1 | n.851A>T c.421A>T (p.Ser141Cys) c.213A>T c.805A>T (p.Ser269Cys) c.33A>T c.25A>T (p.Ser9Cys) n.634A>T | |
5 | g.75426406T>C | CA360136915 | CERT1 | n.851A>G c.421A>G (p.Ser141Gly) c.213A>G c.805A>G (p.Ser269Gly) c.33A>G c.25A>G (p.Ser9Gly) n.634A>G | |
5 | g.75426406T>G | CA360136914 | CERT1 | n.851A>C c.421A>C (p.Ser141Arg) c.213A>C c.805A>C (p.Ser269Arg) c.33A>C c.25A>C (p.Ser9Arg) n.634A>C | |
5 | g.75426407T>A | CA444681228 | CERT1 | n.850A>T c.420A>T (p.Ala140=) c.212A>T c.804A>T (p.Ala268=) c.32A>T c.24A>T (p.Ala8=) n.633A>T | |
5 | g.75426407T>C | CA444681229 | CERT1 | n.850A>G c.420A>G (p.Ala140=) c.212A>G c.804A>G (p.Ala268=) c.32A>G c.24A>G (p.Ala8=) n.633A>G | |
5 | g.75426407T>G | CA444681230 | CERT1 | n.850A>C c.420A>C (p.Ala140=) c.212A>C c.804A>C (p.Ala268=) c.32A>C c.24A>C (p.Ala8=) n.633A>C | dbSNP gnomAD v3 gnomAD v4 |
5 | g.75426407T= | CA1556119732 | CERT1 | n.850A= c.420A= (p.Ala140=) c.212A= c.804A= (p.Ala268=) c.32A= c.24A= (p.Ala8=) n.633A= | |
5 | g.75426408G>A | CA360136917 | CERT1 | n.849C>T c.419C>T (p.Ala140Val) c.211C>T c.803C>T (p.Ala268Val) c.31C>T c.23C>T (p.Ala8Val) n.632C>T | ClinVar |
5 | g.75426408G>C | CA360136920 | CERT1 | n.849C>G c.419C>G (p.Ala140Gly) c.211C>G c.803C>G (p.Ala268Gly) c.31C>G c.23C>G (p.Ala8Gly) n.632C>G | |
5 | g.75426408G>T | CA360136922 | CERT1 | n.849C>A c.419C>A (p.Ala140Glu) c.211C>A c.803C>A (p.Ala268Glu) c.31C>A c.23C>A (p.Ala8Glu) n.632C>A | |
5 | g.75426409C>A | CA360136925 | CERT1 | n.848G>T c.418G>T (p.Ala140Ser) c.210G>T c.802G>T (p.Ala268Ser) c.30G>T c.22G>T (p.Ala8Ser) n.631G>T | |
5 | g.75426409C>G | CA360136927 | CERT1 | n.848G>C c.418G>C (p.Ala140Pro) c.210G>C c.802G>C (p.Ala268Pro) c.30G>C c.22G>C (p.Ala8Pro) n.631G>C | |
5 | g.75426409C>T | CA360136928 | CERT1 | n.848G>A c.418G>A (p.Ala140Thr) c.210G>A c.802G>A (p.Ala268Thr) c.30G>A c.22G>A (p.Ala8Thr) n.631G>A | |
5 | g.75426410T>A | CA444681240 | CERT1 | n.847A>T c.417A>T (p.Gly139=) c.209A>T c.801A>T (p.Gly267=) c.29A>T c.21A>T (p.Gly7=) n.630A>T | |
5 | g.75426410T>C | CA444681236 | CERT1 | n.847A>G c.417A>G (p.Gly139=) c.209A>G c.801A>G (p.Gly267=) c.29A>G c.21A>G (p.Gly7=) n.630A>G | |
5 | g.75426410T>G | CA444681239 | CERT1 | n.847A>C c.417A>C (p.Gly139=) c.209A>C c.801A>C (p.Gly267=) c.29A>C c.21A>C (p.Gly7=) n.630A>C | |
5 | g.75426411C>A | CA360136929 | CERT1 | n.846G>T c.416G>T (p.Gly139Val) c.208G>T c.800G>T (p.Gly267Val) c.28G>T c.20G>T (p.Gly7Val) n.629G>T | |
5 | g.75426411C>G | CA360136930 | CERT1 | n.846G>C c.416G>C (p.Gly139Ala) c.208G>C c.800G>C (p.Gly267Ala) c.28G>C c.20G>C (p.Gly7Ala) n.629G>C | |
5 | g.75426411C>T | CA360136931 | CERT1 | n.846G>A c.416G>A (p.Gly139Glu) c.208G>A c.800G>A (p.Gly267Glu) c.28G>A c.20G>A (p.Gly7Glu) n.629G>A | gnomAD v4 |
5 | g.75426412C>A | CA360136933 | CERT1 | n.845G>T c.415G>T (p.Gly139Ter) c.207G>T c.799G>T (p.Gly267Ter) c.27G>T c.19G>T (p.Gly7Ter) n.628G>T | |
5 | g.75426412C>G | CA360136934 | CERT1 | n.845G>C c.415G>C (p.Gly139Arg) c.207G>C c.799G>C (p.Gly267Arg) c.27G>C c.19G>C (p.Gly7Arg) n.628G>C | |
5 | g.75426412C>T | CA360136936 | CERT1 | n.845G>A c.415G>A (p.Gly139Arg) c.207G>A c.799G>A (p.Gly267Arg) c.27G>A c.19G>A (p.Gly7Arg) n.628G>A | |
5 | g.75426413A>C | CA444681250 | CERT1 | n.844T>G c.414T>G (p.Ser138=) c.206T>G c.798T>G (p.Ser266=) c.26T>G c.18T>G (p.Ser6=) n.627T>G | |
5 | g.75426413A>G | CA444681254 | CERT1 | n.844T>C c.414T>C (p.Ser138=) c.206T>C c.798T>C (p.Ser266=) c.26T>C c.18T>C (p.Ser6=) n.627T>C | |
5 | g.75426413A>T | CA444681255 | CERT1 | n.844T>A c.414T>A (p.Ser138=) c.206T>A c.798T>A (p.Ser266=) c.26T>A c.18T>A (p.Ser6=) n.627T>A | |
5 | g.75426414G>A | CA360136939 | CERT1 | n.843C>T c.413C>T (p.Ser138Phe) c.205C>T c.797C>T (p.Ser266Phe) c.25C>T c.17C>T (p.Ser6Phe) n.626C>T | ClinVar dbSNP |
5 | g.75426414G>C | CA360136944 | CERT1 | n.843C>G c.413C>G (p.Ser138Cys) c.205C>G c.797C>G (p.Ser266Cys) c.25C>G c.17C>G (p.Ser6Cys) n.626C>G | |
5 | g.75426414G= | CA1556119733 | CERT1 | n.843C= c.413C= (p.Ser138=) c.205C= c.797C= (p.Ser266=) c.25C= c.17C= (p.Ser6=) n.626C= | |
5 | g.75426414G>T | CA360136941 | CERT1 | n.843C>A c.413C>A (p.Ser138Tyr) c.205C>A c.797C>A (p.Ser266Tyr) c.25C>A c.17C>A (p.Ser6Tyr) n.626C>A | |
5 | g.75426415A>C | CA360136948 | CERT1 | n.842T>G c.412T>G (p.Ser138Ala) c.204T>G c.796T>G (p.Ser266Ala) c.24T>G c.16T>G (p.Ser6Ala) n.625T>G | |
5 | g.75426415A>G | CA360136950 | CERT1 | n.842T>C c.412T>C (p.Ser138Pro) c.204T>C c.796T>C (p.Ser266Pro) c.24T>C c.16T>C (p.Ser6Pro) n.625T>C | |
5 | g.75426415A>T | CA360136951 | CERT1 | n.842T>A c.412T>A (p.Ser138Thr) c.204T>A c.796T>A (p.Ser266Thr) c.24T>A c.16T>A (p.Ser6Thr) n.625T>A | |
5 | g.75426416C>A | CA444681264 | CERT1 | n.841G>T c.411G>T (p.Val137=) c.203G>T c.795G>T (p.Val265=) c.23G>T c.15G>T (p.Val5=) n.624G>T | |
5 | g.75426416C= | CA1556119734 | CERT1 | n.841G= c.411G= (p.Val137=) c.203G= c.795G= (p.Val265=) c.23G= c.15G= (p.Val5=) n.624G= | |
5 | g.75426416C>G | CA444681267 | CERT1 | n.841G>C c.411G>C (p.Val137=) c.203G>C c.795G>C (p.Val265=) c.23G>C c.15G>C (p.Val5=) n.624G>C | |
5 | g.75426416C>T | CA444681265 | CERT1 | n.841G>A c.411G>A (p.Val137=) c.203G>A c.795G>A (p.Val265=) c.23G>A c.15G>A (p.Val5=) n.624G>A | dbSNP gnomAD v4 |
5 | g.75426417A= | CA1556119735 | CERT1 | n.840T= c.410T= (p.Val137=) c.202T= c.794T= (p.Val265=) c.22T= c.14T= (p.Val5=) n.623T= | |
5 | g.75426417A>C | CA360136956 | CERT1 | n.840T>G c.410T>G (p.Val137Gly) c.202T>G c.794T>G (p.Val265Gly) c.22T>G c.14T>G (p.Val5Gly) n.623T>G | dbSNP gnomAD v2 gnomAD v4 |
5 | g.75426417A>G | CA360136958 | CERT1 | n.840T>C c.410T>C (p.Val137Ala) c.202T>C c.794T>C (p.Val265Ala) c.22T>C c.14T>C (p.Val5Ala) n.623T>C | |
5 | g.75426417A>T | CA360136960 | CERT1 | n.840T>A c.410T>A (p.Val137Glu) c.202T>A c.794T>A (p.Val265Glu) c.22T>A c.14T>A (p.Val5Glu) n.623T>A | |
5 | g.75426418C>A | CA360136962 | CERT1 | n.839G>T c.409G>T (p.Val137Leu) c.201G>T c.793G>T (p.Val265Leu) c.21G>T c.13G>T (p.Val5Leu) n.622G>T | |
5 | g.75426418C= | CA1556119736 | CERT1 | n.839G= c.409G= (p.Val137=) c.201G= c.793G= (p.Val265=) c.21G= c.13G= (p.Val5=) n.622G= | |
5 | g.75426418C>G | CA360136967 | CERT1 | n.839G>C c.409G>C (p.Val137Leu) c.201G>C c.793G>C (p.Val265Leu) c.21G>C c.13G>C (p.Val5Leu) n.622G>C | |
5 | g.75426418C>T | CA3309278 | CERT1 | n.839G>A c.409G>A (p.Val137Met) c.201G>A c.793G>A (p.Val265Met) c.21G>A c.13G>A (p.Val5Met) n.622G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.75426419C>A | CA444681278 | CERT1 | n.838G>T c.408G>T (p.Leu136=) c.200G>T c.792G>T (p.Leu264=) c.20G>T c.12G>T (p.Leu4=) n.621G>T | |
5 | g.75426419C= | CA1556119737 | CERT1 | n.838G= c.408G= (p.Leu136=) c.200G= c.792G= (p.Leu264=) c.20G= c.12G= (p.Leu4=) n.621G= | |
5 | g.75426419C>G | CA444681281 | CERT1 | n.838G>C c.408G>C (p.Leu136=) c.200G>C c.792G>C (p.Leu264=) c.20G>C c.12G>C (p.Leu4=) n.621G>C | gnomAD v4 |
5 | g.75426419C>T | CA3309279 | CERT1 | n.838G>A c.408G>A (p.Leu136=) c.200G>A c.792G>A (p.Leu264=) c.20G>A c.12G>A (p.Leu4=) n.621G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.75426420A>C | CA360136976 | CERT1 | n.837T>G c.407T>G (p.Leu136Arg) c.199T>G c.791T>G (p.Leu264Arg) c.19T>G c.11T>G (p.Leu4Arg) n.620T>G | |
5 | g.75426420A>G | CA360136979 | CERT1 | n.837T>C c.407T>C (p.Leu136Pro) c.199T>C c.791T>C (p.Leu264Pro) c.19T>C c.11T>C (p.Leu4Pro) n.620T>C | |
5 | g.75426420A>T | CA360136973 | CERT1 | n.837T>A c.407T>A (p.Leu136Gln) c.199T>A c.791T>A (p.Leu264Gln) c.19T>A c.11T>A (p.Leu4Gln) n.620T>A | |
5 | g.75426421G>A | CA444681286 | CERT1 | n.836C>T c.406C>T (p.Leu136=) c.198C>T c.790C>T (p.Leu264=) c.18C>T c.10C>T (p.Leu4=) n.619C>T | |
5 | g.75426421G>C | CA360136980 | CERT1 | n.836C>G c.406C>G (p.Leu136Val) c.198C>G c.790C>G (p.Leu264Val) c.18C>G c.10C>G (p.Leu4Val) n.619C>G | |
5 | g.75426421G>T | CA360136988 | CERT1 | n.836C>A c.406C>A (p.Leu136Met) c.198C>A c.790C>A (p.Leu264Met) c.18C>A c.10C>A (p.Leu4Met) n.619C>A | |
5 | g.75426422G>A | CA444681288 | CERT1 | n.835C>T c.405C>T (p.Ser135=) c.197C>T c.789C>T (p.Ser263=) c.17C>T c.9C>T (p.Ser3=) n.618C>T | |
5 | g.75426422G>C | CA444681289 | CERT1 | n.835C>G c.405C>G (p.Ser135=) c.197C>G c.789C>G (p.Ser263=) c.17C>G c.9C>G (p.Ser3=) n.618C>G | |
5 | g.75426422G>T | CA444681291 | CERT1 | n.835C>A c.405C>A (p.Ser135=) c.197C>A c.789C>A (p.Ser263=) c.17C>A c.9C>A (p.Ser3=) n.618C>A | |
5 | g.75426423G>A | CA360136990 | CERT1 | n.834C>T c.404C>T (p.Ser135Phe) c.196C>T c.788C>T (p.Ser263Phe) c.16C>T c.8C>T (p.Ser3Phe) n.617C>T | ClinVar dbSNP COSMIC |
5 | g.75426423G>C | CA360136993 | CERT1 | n.834C>G c.404C>G (p.Ser135Cys) c.196C>G c.788C>G (p.Ser263Cys) c.16C>G c.8C>G (p.Ser3Cys) n.617C>G | |
5 | g.75426423G= | CA1556119738 | CERT1 | n.834C= c.404C= (p.Ser135=) c.196C= c.788C= (p.Ser263=) c.16C= c.8C= (p.Ser3=) n.617C= | |
5 | g.75426423G>T | CA360136998 | CERT1 | n.834C>A c.404C>A (p.Ser135Tyr) c.196C>A c.788C>A (p.Ser263Tyr) c.16C>A c.8C>A (p.Ser3Tyr) n.617C>A | |
5 | g.75426424A>C | CA360137003 | CERT1 | n.833T>G c.403T>G (p.Ser135Ala) c.195T>G c.787T>G (p.Ser263Ala) c.15T>G c.7T>G (p.Ser3Ala) n.616T>G | |
5 | g.75426424A>G | CA360137001 | CERT1 | n.833T>C c.403T>C (p.Ser135Pro) c.195T>C c.787T>C (p.Ser263Pro) c.15T>C c.7T>C (p.Ser3Pro) n.616T>C | |
5 | g.75426424A>T | CA360137000 | CERT1 | n.833T>A c.403T>A (p.Ser135Thr) c.195T>A c.787T>A (p.Ser263Thr) c.15T>A c.7T>A (p.Ser3Thr) n.616T>A | |
5 | g.75426425C>A | CA444681295 | CERT1 | n.832G>T c.402G>T (p.Val134=) c.194G>T c.786G>T (p.Val262=) c.14G>T c.6G>T (p.Val2=) n.615G>T | |
5 | g.75426425C>G | CA444681296 | CERT1 | n.832G>C c.402G>C (p.Val134=) c.194G>C c.786G>C (p.Val262=) c.14G>C c.6G>C (p.Val2=) n.615G>C | |
5 | g.75426425C>T | CA444681298 | CERT1 | n.832G>A c.402G>A (p.Val134=) c.194G>A c.786G>A (p.Val262=) c.14G>A c.6G>A (p.Val2=) n.615G>A | gnomAD v4 |
5 | g.75426425dup | CA2674273786 | CERT1 | n.832dup c.402dup (p.Ser135ValfsTer25) c.194dup c.786dup (p.Ser263ValfsTer25) c.14dup c.6dup (p.Ser3ValfsTer?) n.615dup | gnomAD v4 |
5 | g.75426426A>C | CA360137006 | CERT1 | n.831T>G c.401T>G (p.Val134Gly) c.193T>G c.785T>G (p.Val262Gly) c.13T>G c.5T>G (p.Val2Gly) n.614T>G | |
5 | g.75426426A>G | CA360137008 | CERT1 | n.831T>C c.401T>C (p.Val134Ala) c.193T>C c.785T>C (p.Val262Ala) c.13T>C c.5T>C (p.Val2Ala) n.614T>C | |
5 | g.75426426A>T | CA360137011 | CERT1 | n.831T>A c.401T>A (p.Val134Glu) c.193T>A c.785T>A (p.Val262Glu) c.13T>A c.5T>A (p.Val2Glu) n.614T>A | |
5 | g.75426426_75426429dup | CA2578338953 | CERT1 | n.828_831dup c.398_401dup (p.Ser135GlyfsTer26) c.190_193dup c.782_785dup (p.Ser263GlyfsTer26) c.10_13dup c.2_5dup (p.Ser3GlyfsTer?) n.611_614dup | |
5 | g.75426427C>A | CA360137015 | CERT1 | n.830G>T c.400G>T (p.Val134Leu) c.192G>T c.784G>T (p.Val262Leu) c.12G>T c.4G>T (p.Val2Leu) n.613G>T | COSMIC COSMIC |
5 | g.75426427C>G | CA360137017 | CERT1 | n.830G>C c.400G>C (p.Val134Leu) c.192G>C c.784G>C (p.Val262Leu) c.12G>C c.4G>C (p.Val2Leu) n.613G>C | |
5 | g.75426427C>T | CA360137018 | CERT1 | n.830G>A c.400G>A (p.Val134Met) c.192G>A c.784G>A (p.Val262Met) c.12G>A c.4G>A (p.Val2Met) n.613G>A | |
5 | g.75426428C>A | CA360137021 | CERT1 | n.829G>T c.399G>T (p.Met133Ile) c.191G>T c.783G>T (p.Met261Ile) c.11G>T c.3G>T (p.Met1Ile) n.612G>T | |
5 | g.75426428C>G | CA360137024 | CERT1 | n.829G>C c.399G>C (p.Met133Ile) c.191G>C c.783G>C (p.Met261Ile) c.11G>C c.3G>C (p.Met1Ile) n.612G>C | |
5 | g.75426428C>T | CA360137023 | CERT1 | n.829G>A c.399G>A (p.Met133Ile) c.191G>A c.783G>A (p.Met261Ile) c.11G>A c.3G>A (p.Met1Ile) n.612G>A | |
5 | g.75426429A>C | CA360137028 | CERT1 | n.828T>G c.398T>G (p.Met133Arg) c.190T>G c.782T>G (p.Met261Arg) c.10T>G c.2T>G (p.Met1Arg) n.611T>G | |
5 | g.75426429A>G | CA360137029 | CERT1 | n.828T>C c.398T>C (p.Met133Thr) c.190T>C c.782T>C (p.Met261Thr) c.10T>C c.2T>C (p.Met1Thr) n.611T>C | |
5 | g.75426429A>T | CA360137032 | CERT1 | n.828T>A c.398T>A (p.Met133Lys) c.190T>A c.782T>A (p.Met261Lys) c.10T>A c.2T>A (p.Met1Lys) n.611T>A | |
5 | g.75426430T>A | CA360137036 | CERT1 | n.827A>T c.397A>T (p.Met133Leu) c.189A>T c.781A>T (p.Met261Leu) c.9A>T c.1A>T (p.Met1Leu) n.610A>T | |
5 | g.75426430T>C | CA3309280 | CERT1 | n.827A>G c.397A>G (p.Met133Val) c.189A>G c.781A>G (p.Met261Val) c.9A>G c.1A>G (p.Met1Val) n.610A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.75426430T>G | CA360137039 | CERT1 | n.827A>C c.397A>C (p.Met133Leu) c.189A>C c.781A>C (p.Met261Leu) c.9A>C c.1A>C (p.Met1Leu) n.610A>C | |
5 | g.75426430T= | CA1556119739 | CERT1 | n.827A= c.397A= (p.Met133=) c.189A= c.781A= (p.Met261=) c.9A= c.1A= (p.Met1=) n.610A= | |
5 | g.75426431T>A | CA444681321 | CERT1 | n.826A>T c.396A>T (p.Ser132=) c.188A>T c.780A>T (p.Ser260=) c.8A>T c.-1A>T (n.-1A>T) n.609A>T | |
5 | g.75426431T>C | CA120924623 | CERT1 | n.826A>G c.396A>G (p.Ser132=) c.188A>G c.780A>G (p.Ser260=) c.8A>G c.-1A>G (n.-1A>G) n.609A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.75426431T>G | CA444681325 | CERT1 | n.826A>C c.396A>C (p.Ser132=) c.188A>C c.780A>C (p.Ser260=) c.8A>C c.-1A>C (n.-1A>C) n.609A>C | gnomAD v4 |
5 | g.75426431T= | CA1556119740 | CERT1 | n.826A= c.396A= (p.Ser132=) c.188A= c.780A= (p.Ser260=) c.8A= c.-1A= (n.-1A=) n.609A= | |
5 | g.75426432G>A | CA16618211 | CERT1 | n.825C>T c.395C>T (p.Ser132Leu) c.187C>T c.779C>T (p.Ser260Leu) c.7C>T c.-2C>T (n.-2C>T) n.608C>T | ClinVar dbSNP |
5 | g.75426432G>C | CA360137044 | CERT1 | n.825C>G c.395C>G (p.Ser132Ter) c.187C>G c.779C>G (p.Ser260Ter) c.7C>G c.-2C>G (n.-2C>G) n.608C>G | gnomAD v4 |
5 | g.75426432G= | CA1556119741 | CERT1 | n.825C= c.395C= (p.Ser132=) c.187C= c.779C= (p.Ser260=) c.7C= c.-2C= (n.-2C=) n.608C= | |
5 | g.75426432G>T | CA360137046 | CERT1 | n.825C>A c.395C>A (p.Ser132Ter) c.187C>A c.779C>A (p.Ser260Ter) c.7C>A c.-2C>A (n.-2C>A) n.608C>A | |
5 | g.75426433A= | CA1556119742 | CERT1 | n.824T= c.394T= (p.Ser132=) c.186T= c.778T= (p.Ser260=) c.6T= c.-3T= (n.-3T=) n.607T= | |
5 | g.75426433A>C | CA360137048 | CERT1 | n.824T>G c.394T>G (p.Ser132Ala) c.186T>G c.778T>G (p.Ser260Ala) c.6T>G c.-3T>G (n.-3T>G) n.607T>G | |
5 | g.75426433A>G | CA360137050 | CERT1 | n.824T>C c.394T>C (p.Ser132Pro) c.186T>C c.778T>C (p.Ser260Pro) c.6T>C c.-3T>C (n.-3T>C) n.607T>C | ClinVar dbSNP |
5 | g.75426433A>T | CA360137052 | CERT1 | n.824T>A c.394T>A (p.Ser132Thr) c.186T>A c.778T>A (p.Ser260Thr) c.6T>A c.-3T>A (n.-3T>A) n.607T>A | |
5 | g.75426434G>A | CA444681341 | CERT1 | n.823C>T c.393C>T (p.Gly131=) c.185C>T c.777C>T (p.Gly259=) c.5C>T c.-4C>T (n.-4C>T) n.606C>T | |
5 | g.75426434G>C | CA444681345 | CERT1 | n.823C>G c.393C>G (p.Gly131=) c.185C>G c.777C>G (p.Gly259=) c.5C>G c.-4C>G (n.-4C>G) n.606C>G | gnomAD v4 |
5 | g.75426434G>T | CA444681347 | CERT1 | n.823C>A c.393C>A (p.Gly131=) c.185C>A c.777C>A (p.Gly259=) c.5C>A c.-4C>A (n.-4C>A) n.606C>A | |
5 | g.75426435C>A | CA360137059 | CERT1 | n.822G>T c.392G>T (p.Gly131Val) c.184G>T c.776G>T (p.Gly259Val) c.4G>T c.-5G>T (n.-5G>T) n.605G>T | |
5 | g.75426435C>G | CA360137056 | CERT1 | n.822G>C c.392G>C (p.Gly131Ala) c.184G>C c.776G>C (p.Gly259Ala) c.4G>C c.-5G>C (n.-5G>C) n.605G>C | |
5 | g.75426435C>T | CA360137054 | CERT1 | n.822G>A c.392G>A (p.Gly131Asp) c.184G>A c.776G>A (p.Gly259Asp) c.4G>A c.-5G>A (n.-5G>A) n.605G>A | |
5 | g.75426436C>A | CA360137063 | CERT1 | n.821G>T c.391G>T (p.Gly131Cys) c.183G>T c.775G>T (p.Gly259Cys) c.3G>T c.-6G>T (n.-6G>T) n.604G>T | |
5 | g.75426436C>G | CA360137067 | CERT1 | n.821G>C c.391G>C (p.Gly131Arg) c.183G>C c.775G>C (p.Gly259Arg) c.3G>C c.-6G>C (n.-6G>C) n.604G>C | |
5 | g.75426436C>T | CA360137065 | CERT1 | n.821G>A c.391G>A (p.Gly131Ser) c.183G>A c.775G>A (p.Gly259Ser) c.3G>A c.-6G>A (n.-6G>A) n.604G>A | |
5 | g.75426437A>C | CA360137069 | CERT1 | n.820T>G c.390T>G (p.His130Gln) c.182T>G c.774T>G (p.His258Gln) c.2T>G c.-7T>G (n.-7T>G) n.603T>G | |
5 | g.75426437A>G | CA444681360 | CERT1 | n.820T>C c.390T>C (p.His130=) c.182T>C c.774T>C (p.His258=) c.2T>C c.-7T>C (n.-7T>C) n.603T>C | |
5 | g.75426437A>T | CA360137071 | CERT1 | n.820T>A c.390T>A (p.His130Gln) c.182T>A c.774T>A (p.His258Gln) c.2T>A c.-7T>A (n.-7T>A) n.603T>A | |
5 | g.75426438T>A | CA360137073 | CERT1 | n.819A>T c.389A>T (p.His130Leu) c.181A>T c.773A>T (p.His258Leu) c.1A>T c.-8A>T (n.-8A>T) n.602A>T | |
5 | g.75426438T>C | CA360137077 | CERT1 | n.819A>G c.389A>G (p.His130Arg) c.181A>G c.773A>G (p.His258Arg) c.1A>G c.-8A>G (n.-8A>G) n.602A>G | gnomAD v4 |
5 | g.75426438T>G | CA360137075 | CERT1 | n.819A>C c.389A>C (p.His130Pro) c.181A>C c.773A>C (p.His258Pro) c.1A>C c.-8A>C (n.-8A>C) n.602A>C | |
5 | g.75426439G>A | CA360137079 | CERT1 | n.818C>T c.388C>T (p.His130Tyr) c.180C>T c.772C>T (p.His258Tyr) c.-9C>T (n.-9C>T) n.601C>T | dbSNP gnomAD v2 gnomAD v4 |
5 | g.75426439G>C | CA360137080 | CERT1 | n.818C>G c.388C>G (p.His130Asp) c.180C>G c.772C>G (p.His258Asp) c.-9C>G (n.-9C>G) n.601C>G | |
5 | g.75426439G= | CA1556119743 | CERT1 | n.818C= c.388C= (p.His130=) c.180C= c.772C= (p.His258=) c.-9C= (n.-9C=) n.601C= | |
5 | g.75426439G>T | CA360137083 | CERT1 | n.818C>A c.388C>A (p.His130Asn) c.180C>A c.772C>A (p.His258Asn) c.-9C>A (n.-9C>A) n.601C>A | |
5 | g.75426440T>A | CA444681383 | CERT1 | n.817A>T c.387A>T (p.Arg129=) c.179A>T c.771A>T (p.Arg257=) c.-10A>T (n.-10A>T) n.600A>T | |
5 | g.75426440T>C | CA444681382 | CERT1 | n.817A>G c.387A>G (p.Arg129=) c.179A>G c.771A>G (p.Arg257=) c.-10A>G (n.-10A>G) n.600A>G | dbSNP gnomAD v2 gnomAD v4 |
5 | g.75426440T>G | CA444681372 | CERT1 | n.817A>C c.387A>C (p.Arg129=) c.179A>C c.771A>C (p.Arg257=) c.-10A>C (n.-10A>C) n.600A>C | |
5 | g.75426440T= | CA1556119744 | CERT1 | n.817A= c.387A= (p.Arg129=) c.179A= c.771A= (p.Arg257=) c.-10A= (n.-10A=) n.600A= | |
5 | g.75426441C>A | CA360137087 | CERT1 | n.816G>T c.386G>T (p.Arg129Leu) c.178G>T c.770G>T (p.Arg257Leu) c.-11G>T (n.-11G>T) n.599G>T | |
5 | g.75426441C= | CA1556119745 | CERT1 | n.816G= c.386G= (p.Arg129=) c.178G= c.770G= (p.Arg257=) c.-11G= (n.-11G=) n.599G= | |
5 | g.75426441C>G | CA360137089 | CERT1 | n.816G>C c.386G>C (p.Arg129Pro) c.178G>C c.770G>C (p.Arg257Pro) c.-11G>C (n.-11G>C) n.599G>C | |
5 | g.75426441C>T | CA120924632 | CERT1 | n.816G>A c.386G>A (p.Arg129Gln) c.178G>A c.770G>A (p.Arg257Gln) c.-11G>A (n.-11G>A) n.599G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
5 | g.75426442G>A | CA360137092 | CERT1 | n.815C>T c.385C>T (p.Arg129Ter) c.177C>T c.769C>T (p.Arg257Ter) c.-12C>T (n.-12C>T) n.598C>T | gnomAD v4 |
5 | g.75426442G>C | CA360137094 | CERT1 | n.815C>G c.385C>G (p.Arg129Gly) c.177C>G c.769C>G (p.Arg257Gly) c.-12C>G (n.-12C>G) n.598C>G | |
5 | g.75426442G= | CA1556119746 | CERT1 | n.815C= c.385C= (p.Arg129=) c.177C= c.769C= (p.Arg257=) c.-12C= (n.-12C=) n.598C= | |
5 | g.75426442G>T | CA444681397 | CERT1 | n.815C>A c.385C>A (p.Arg129=) c.177C>A c.769C>A (p.Arg257=) c.-12C>A (n.-12C>A) n.598C>A | dbSNP gnomAD v2 gnomAD v4 |
5 | g.75426443A>C | CA444681399 | CERT1 | n.814T>G c.384T>G (p.Arg128=) c.176T>G c.768T>G (p.Arg256=) c.-13T>G (n.-13T>G) n.597T>G | |
5 | g.75426443A>G | CA444681402 | CERT1 | n.814T>C c.384T>C (p.Arg128=) c.176T>C c.768T>C (p.Arg256=) c.-13T>C (n.-13T>C) n.597T>C | gnomAD v4 |
5 | g.75426443A>T | CA444681400 | CERT1 | n.814T>A c.384T>A (p.Arg128=) c.176T>A c.768T>A (p.Arg256=) c.-13T>A (n.-13T>A) n.597T>A | |
5 | g.75426444C>A | CA360137095 | CERT1 | n.813G>T c.383G>T (p.Arg128Leu) c.175G>T c.767G>T (p.Arg256Leu) c.-14G>T (n.-14G>T) n.596G>T | |
5 | g.75426444C= | CA1556119747 | CERT1 | n.813G= c.383G= (p.Arg128=) c.175G= c.767G= (p.Arg256=) c.-14G= (n.-14G=) n.596G= | |
5 | g.75426444C>G | CA360137097 | CERT1 | n.813G>C c.383G>C (p.Arg128Pro) c.175G>C c.767G>C (p.Arg256Pro) c.-14G>C (n.-14G>C) n.596G>C | |
5 | g.75426444C>T | CA3309281 | CERT1 | n.813G>A c.383G>A (p.Arg128His) c.175G>A c.767G>A (p.Arg256His) c.-14G>A (n.-14G>A) n.596G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.75426445G>A | CA360137102 | CERT1 | n.812C>T c.382C>T (p.Arg128Cys) c.174C>T c.766C>T (p.Arg256Cys) c.-15C>T (n.-15C>T) n.595C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
5 | g.75426445G>C | CA360137103 | CERT1 | n.812C>G c.382C>G (p.Arg128Gly) c.174C>G c.766C>G (p.Arg256Gly) c.-15C>G (n.-15C>G) n.595C>G | |
5 | g.75426445G= | CA1556119748 | CERT1 | n.812C= c.382C= (p.Arg128=) c.174C= c.766C= (p.Arg256=) c.-15C= (n.-15C=) n.595C= | |
5 | g.75426445G>T | CA360137106 | CERT1 | n.812C>A c.382C>A (p.Arg128Ser) c.174C>A c.766C>A (p.Arg256Ser) c.-15C>A (n.-15C>A) n.595C>A | gnomAD v4 |
5 | g.75426446C>A | CA360137109 | CERT1 | n.811G>T c.381G>T (p.Leu127Phe) c.173G>T c.765G>T (p.Leu255Phe) c.-16G>T (n.-16G>T) n.594G>T | |
5 | g.75426446C>G | CA360137108 | CERT1 | n.811G>C c.381G>C (p.Leu127Phe) c.173G>C c.765G>C (p.Leu255Phe) c.-16G>C (n.-16G>C) n.594G>C | |
5 | g.75426446C>T | CA444681423 | CERT1 | n.811G>A c.381G>A (p.Leu127=) c.173G>A c.765G>A (p.Leu255=) c.-16G>A (n.-16G>A) n.594G>A | gnomAD v4 |