Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.75426354_75426356delCA2674273778CERT1n.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
5g.75426354A>TCA2674273779CERT1n.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
5g.75426355T>CCA2578338950CERT1n.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
5g.75426357C>TCA2578338951CERT1n.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
5g.75426358A=CA1556119717CERT1n.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=
5g.75426358A>GCA3309272CERT1n.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
5g.75426358A>TCA2674273780CERT1n.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
5g.75426361_75426370delCA2674273781CERT1n.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
5g.75426362A=CA1556119718CERT1n.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=
5g.75426362A>TCA560463189CERT1n.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
5g.75426363C=CA1556119719CERT1n.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=
5g.75426363C>GCA3309273CERT1n.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
5g.75426363C>TCA560463191CERT1n.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
5g.75426364T>CCA560463192CERT1n.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
5g.75426364T>GCA2674273782CERT1n.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
5g.75426364T=CA1556119720CERT1n.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=
5g.75426365A>GCA2674273783CERT1n.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
5g.75426365A>TCA2674273784CERT1n.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
5g.75426366C>ACA2674273785CERT1n.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
5g.75426366C=CA1556119721CERT1n.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=
5g.75426366C>GCA1556119722CERT1n.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
5g.75426366C>TCA120924533CERT1n.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
5g.75426367A=CA1556119723CERT1n.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=
5g.75426367A>GCA3309274CERT1n.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
5g.75426368C>TCA2578338952CERT1n.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
5g.75426369A=CA1556119724CERT1n.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=
5g.75426369A>CCA360136665CERT1n.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
5g.75426369A>GCA360136667CERT1n.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
5g.75426369A>TCA360136670CERT1n.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
5g.75426370C>ACA360136672CERT1n.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
5g.75426370C>GCA360136674CERT1n.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
5g.75426370C>TCA360136673CERT1n.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
5g.75426371C>ACA360136676CERT1n.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
5g.75426371C>GCA360136679CERT1n.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
5g.75426371C>TCA444681080CERT1n.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
5g.75426372T>ACA360136685CERT1n.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
5g.75426372T>CCA360136687CERT1n.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
5g.75426372T>GCA360136693CERT1n.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
5g.75426373T>ACA360136696CERT1n.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
5g.75426373T>CCA360136698CERT1n.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
5g.75426373T>GCA360136702CERT1n.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
5g.75426374G>ACA3309275CERT1n.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
5g.75426374G>CCA360136704CERT1n.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
5g.75426374G=CA1556119725CERT1n.883C=
c.453C= (p.Phe151=)
c.245C=
c.837C= (p.Phe279=)
c.65C=
c.57C= (p.Phe19=)
n.666C=
5g.75426374G>TCA360136707CERT1n.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
5g.75426375A>CCA360136715CERT1n.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
5g.75426375A>GCA360136717CERT1n.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
5g.75426375A>TCA360136711CERT1n.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
5g.75426376A>CCA360136720CERT1n.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
5g.75426376A>GCA360136723CERT1n.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
5g.75426376A>TCA360136726CERT1n.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
5g.75426377T>ACA444681104CERT1n.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
5g.75426377T>CCA3309276CERT1n.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
5g.75426377T>GCA444681112CERT1n.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
5g.75426377T=CA1556119726CERT1n.880A=
c.450A= (p.Ser150=)
c.242A=
c.834A= (p.Ser278=)
c.62A=
c.54A= (p.Ser18=)
n.663A=
5g.75426378G>ACA360136731CERT1n.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
5g.75426378G>CCA360136733CERT1n.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
5g.75426378G>TCA360136735CERT1n.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
5g.75426379A>CCA360136737CERT1n.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
5g.75426379A>GCA360136739CERT1n.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
5g.75426379A>TCA360136742CERT1n.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
5g.75426380A>CCA444681119CERT1n.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
5g.75426380A>GCA444681120CERT1n.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
5g.75426380A>TCA444681122CERT1n.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
5g.75426381G>ACA360136743CERT1n.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
5g.75426381G>CCA360136746CERT1n.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
5g.75426381G>TCA360136748CERT1n.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
5g.75426382A>CCA360136758CERT1n.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
5g.75426382A>GCA360136755CERT1n.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
5g.75426382A>TCA360136752CERT1n.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
5g.75426383G>ACA444681136CERT1n.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
5g.75426383G>CCA444681135CERT1n.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
5g.75426383G=CA1556119727CERT1n.874C=
c.444C= (p.Thr148=)
c.236C=
c.828C= (p.Thr276=)
c.56C=
c.48C= (p.Thr16=)
n.657C=
5g.75426383G>TCA444681134CERT1n.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
5g.75426384G>ACA120924582CERT1n.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
5g.75426384G>CCA360136763CERT1n.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
5g.75426384G=CA1556119728CERT1n.873C=
c.443C= (p.Thr148=)
c.235C=
c.827C= (p.Thr276=)
c.55C=
c.47C= (p.Thr16=)
n.656C=
5g.75426384G>TCA360136766CERT1n.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
5g.75426385T>ACA360136770CERT1n.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
5g.75426385T>CCA360136774CERT1n.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
5g.75426385T>GCA360136775CERT1n.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
5g.75426386G>ACA444681145CERT1n.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
5g.75426386G>CCA444681142CERT1n.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
5g.75426386G>TCA444681141CERT1n.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
5g.75426387G>ACA360136779CERT1n.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
5g.75426387G>CCA360136780CERT1n.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
5g.75426387G>TCA360136783CERT1n.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
5g.75426388A>CCA360136786CERT1n.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
5g.75426388A>GCA360136787CERT1n.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
5g.75426388A>TCA360136795CERT1n.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
5g.75426389T>ACA444681152CERT1n.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
5g.75426389T>CCA444681155CERT1n.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
5g.75426389T>GCA444681153CERT1n.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
5g.75426389T=CA1556119729CERT1n.868A=
c.438A= (p.Thr146=)
c.230A=
c.822A= (p.Thr274=)
c.50A=
c.42A= (p.Thr14=)
n.651A=
5g.75426390G>ACA360136808CERT1n.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
5g.75426390G>CCA360136810CERT1n.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
5g.75426390G>TCA360136811CERT1n.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
5g.75426391T>ACA360136829CERT1n.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
5g.75426391T>CCA360136832CERT1n.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
5g.75426391T>GCA360136822CERT1n.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
5g.75426392T>ACA444681167CERT1n.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
5g.75426392T>CCA444681169CERT1n.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
5g.75426392T>GCA444681170CERT1n.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
5g.75426393G>ACA360136835CERT1n.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
5g.75426393G>CCA360136838CERT1n.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
5g.75426393G>TCA360136843CERT1n.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
5g.75426394C>ACA360136846CERT1n.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
5g.75426394C>GCA360136852CERT1n.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
5g.75426394C>TCA360136856CERT1n.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
5g.75426395A>CCA444681181CERT1n.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
5g.75426395A>GCA444681183CERT1n.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
5g.75426395A>TCA444681184CERT1n.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
5g.75426396G>ACA360136861CERT1n.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
5g.75426396G>CCA360136859CERT1n.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
5g.75426396G>TCA360136860CERT1n.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
5g.75426397A>CCA360136863CERT1n.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
5g.75426397A>GCA360136864CERT1n.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
5g.75426397A>TCA360136865CERT1n.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
5g.75426398G>ACA444681199CERT1n.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
5g.75426398G>CCA360136866CERT1n.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
5g.75426398G=CA1556119730CERT1n.859C=
c.429C= (p.Tyr143=)
c.221C=
c.813C= (p.Tyr271=)
c.41C=
c.33C= (p.Tyr11=)
n.642C=
5g.75426398G>TCA3309277CERT1n.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
5g.75426399T>ACA360136868CERT1n.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
5g.75426399T>CCA360136874CERT1n.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
5g.75426399T>GCA360136871CERT1n.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
5g.75426400A>CCA360136877CERT1n.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
5g.75426400A>GCA360136880CERT1n.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
5g.75426400A>TCA360136883CERT1n.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
5g.75426401G>ACA444681204CERT1n.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
5g.75426401G>CCA444681206CERT1n.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
5g.75426401G>TCA444681208CERT1n.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
5g.75426402C>ACA360136886CERT1n.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
5g.75426402C>GCA360136888CERT1n.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
5g.75426402C>TCA360136891CERT1n.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
5g.75426403C>ACA360136894CERT1n.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
5g.75426403C>GCA360136896CERT1n.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
5g.75426403C>TCA360136897CERT1n.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
5g.75426404A=CA1556119731CERT1n.853T=
c.423T= (p.Ser141=)
c.215T=
c.807T= (p.Ser269=)
c.35T=
c.27T= (p.Ser9=)
n.636T=
5g.75426404A>CCA360136899CERT1n.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
5g.75426404A>GCA444681217CERT1n.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
5g.75426404A>TCA360136901CERT1n.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
5g.75426405C>ACA360136905CERT1n.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
5g.75426405C>GCA360136910CERT1n.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
5g.75426405C>TCA360136908CERT1n.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
5g.75426406T>ACA360136913CERT1n.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
5g.75426406T>CCA360136915CERT1n.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
5g.75426406T>GCA360136914CERT1n.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
5g.75426407T>ACA444681228CERT1n.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
5g.75426407T>CCA444681229CERT1n.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
5g.75426407T>GCA444681230CERT1n.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
5g.75426407T=CA1556119732CERT1n.850A=
c.420A= (p.Ala140=)
c.212A=
c.804A= (p.Ala268=)
c.32A=
c.24A= (p.Ala8=)
n.633A=
5g.75426408G>ACA360136917CERT1n.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
5g.75426408G>CCA360136920CERT1n.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
5g.75426408G>TCA360136922CERT1n.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
5g.75426409C>ACA360136925CERT1n.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
5g.75426409C>GCA360136927CERT1n.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
5g.75426409C>TCA360136928CERT1n.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
5g.75426410T>ACA444681240CERT1n.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
5g.75426410T>CCA444681236CERT1n.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
5g.75426410T>GCA444681239CERT1n.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
5g.75426411C>ACA360136929CERT1n.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
5g.75426411C>GCA360136930CERT1n.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
5g.75426411C>TCA360136931CERT1n.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
5g.75426412C>ACA360136933CERT1n.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
5g.75426412C>GCA360136934CERT1n.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
5g.75426412C>TCA360136936CERT1n.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
5g.75426413A>CCA444681250CERT1n.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
5g.75426413A>GCA444681254CERT1n.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
5g.75426413A>TCA444681255CERT1n.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
5g.75426414G>ACA360136939CERT1n.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
5g.75426414G>CCA360136944CERT1n.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
5g.75426414G=CA1556119733CERT1n.843C=
c.413C= (p.Ser138=)
c.205C=
c.797C= (p.Ser266=)
c.25C=
c.17C= (p.Ser6=)
n.626C=
5g.75426414G>TCA360136941CERT1n.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
5g.75426415A>CCA360136948CERT1n.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
5g.75426415A>GCA360136950CERT1n.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
5g.75426415A>TCA360136951CERT1n.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
5g.75426416C>ACA444681264CERT1n.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
5g.75426416C=CA1556119734CERT1n.841G=
c.411G= (p.Val137=)
c.203G=
c.795G= (p.Val265=)
c.23G=
c.15G= (p.Val5=)
n.624G=
5g.75426416C>GCA444681267CERT1n.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
5g.75426416C>TCA444681265CERT1n.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
5g.75426417A=CA1556119735CERT1n.840T=
c.410T= (p.Val137=)
c.202T=
c.794T= (p.Val265=)
c.22T=
c.14T= (p.Val5=)
n.623T=
5g.75426417A>CCA360136956CERT1n.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
5g.75426417A>GCA360136958CERT1n.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
5g.75426417A>TCA360136960CERT1n.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
5g.75426418C>ACA360136962CERT1n.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
5g.75426418C=CA1556119736CERT1n.839G=
c.409G= (p.Val137=)
c.201G=
c.793G= (p.Val265=)
c.21G=
c.13G= (p.Val5=)
n.622G=
5g.75426418C>GCA360136967CERT1n.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
5g.75426418C>TCA3309278CERT1n.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
5g.75426419C>ACA444681278CERT1n.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
5g.75426419C=CA1556119737CERT1n.838G=
c.408G= (p.Leu136=)
c.200G=
c.792G= (p.Leu264=)
c.20G=
c.12G= (p.Leu4=)
n.621G=
5g.75426419C>GCA444681281CERT1n.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
5g.75426419C>TCA3309279CERT1n.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
5g.75426420A>CCA360136976CERT1n.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
5g.75426420A>GCA360136979CERT1n.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
5g.75426420A>TCA360136973CERT1n.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
5g.75426421G>ACA444681286CERT1n.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
5g.75426421G>CCA360136980CERT1n.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
5g.75426421G>TCA360136988CERT1n.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
5g.75426422G>ACA444681288CERT1n.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
5g.75426422G>CCA444681289CERT1n.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
5g.75426422G>TCA444681291CERT1n.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
5g.75426423G>ACA360136990CERT1n.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
5g.75426423G>CCA360136993CERT1n.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
5g.75426423G=CA1556119738CERT1n.834C=
c.404C= (p.Ser135=)
c.196C=
c.788C= (p.Ser263=)
c.16C=
c.8C= (p.Ser3=)
n.617C=
5g.75426423G>TCA360136998CERT1n.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
5g.75426424A>CCA360137003CERT1n.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
5g.75426424A>GCA360137001CERT1n.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
5g.75426424A>TCA360137000CERT1n.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
5g.75426425C>ACA444681295CERT1n.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
5g.75426425C>GCA444681296CERT1n.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
5g.75426425C>TCA444681298CERT1n.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
5g.75426425dupCA2674273786CERT1n.832dup
c.402dup (p.Ser135ValfsTer25)
c.194dup
c.786dup (p.Ser263ValfsTer25)
c.14dup
c.6dup (p.Ser3ValfsTer?)
n.615dup
 gnomAD v4
5g.75426426A>CCA360137006CERT1n.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
5g.75426426A>GCA360137008CERT1n.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
5g.75426426A>TCA360137011CERT1n.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
5g.75426426_75426429dupCA2578338953CERT1n.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
5g.75426427C>ACA360137015CERT1n.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
5g.75426427C>GCA360137017CERT1n.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
5g.75426427C>TCA360137018CERT1n.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
5g.75426428C>ACA360137021CERT1n.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
5g.75426428C>GCA360137024CERT1n.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
5g.75426428C>TCA360137023CERT1n.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
5g.75426429A>CCA360137028CERT1n.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
5g.75426429A>GCA360137029CERT1n.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
5g.75426429A>TCA360137032CERT1n.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
5g.75426430T>ACA360137036CERT1n.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
5g.75426430T>CCA3309280CERT1n.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
5g.75426430T>GCA360137039CERT1n.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
5g.75426430T=CA1556119739CERT1n.827A=
c.397A= (p.Met133=)
c.189A=
c.781A= (p.Met261=)
c.9A=
c.1A= (p.Met1=)
n.610A=
5g.75426431T>ACA444681321CERT1n.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
5g.75426431T>CCA120924623CERT1n.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
5g.75426431T>GCA444681325CERT1n.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
5g.75426431T=CA1556119740CERT1n.826A=
c.396A= (p.Ser132=)
c.188A=
c.780A= (p.Ser260=)
c.8A=
c.-1A= (n.-1A=)
n.609A=
5g.75426432G>ACA16618211CERT1n.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
5g.75426432G>CCA360137044CERT1n.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
5g.75426432G=CA1556119741CERT1n.825C=
c.395C= (p.Ser132=)
c.187C=
c.779C= (p.Ser260=)
c.7C=
c.-2C= (n.-2C=)
n.608C=
5g.75426432G>TCA360137046CERT1n.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
5g.75426433A=CA1556119742CERT1n.824T=
c.394T= (p.Ser132=)
c.186T=
c.778T= (p.Ser260=)
c.6T=
c.-3T= (n.-3T=)
n.607T=
5g.75426433A>CCA360137048CERT1n.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
5g.75426433A>GCA360137050CERT1n.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
5g.75426433A>TCA360137052CERT1n.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
5g.75426434G>ACA444681341CERT1n.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
5g.75426434G>CCA444681345CERT1n.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
5g.75426434G>TCA444681347CERT1n.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
5g.75426435C>ACA360137059CERT1n.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
5g.75426435C>GCA360137056CERT1n.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
5g.75426435C>TCA360137054CERT1n.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
5g.75426436C>ACA360137063CERT1n.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
5g.75426436C>GCA360137067CERT1n.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
5g.75426436C>TCA360137065CERT1n.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
5g.75426437A>CCA360137069CERT1n.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
5g.75426437A>GCA444681360CERT1n.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
5g.75426437A>TCA360137071CERT1n.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
5g.75426438T>ACA360137073CERT1n.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
5g.75426438T>CCA360137077CERT1n.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
5g.75426438T>GCA360137075CERT1n.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
5g.75426439G>ACA360137079CERT1n.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
5g.75426439G>CCA360137080CERT1n.818C>G
c.388C>G (p.His130Asp)
c.180C>G
c.772C>G (p.His258Asp)
c.-9C>G (n.-9C>G)
n.601C>G
5g.75426439G=CA1556119743CERT1n.818C=
c.388C= (p.His130=)
c.180C=
c.772C= (p.His258=)
c.-9C= (n.-9C=)
n.601C=
5g.75426439G>TCA360137083CERT1n.818C>A
c.388C>A (p.His130Asn)
c.180C>A
c.772C>A (p.His258Asn)
c.-9C>A (n.-9C>A)
n.601C>A
5g.75426440T>ACA444681383CERT1n.817A>T
c.387A>T (p.Arg129=)
c.179A>T
c.771A>T (p.Arg257=)
c.-10A>T (n.-10A>T)
n.600A>T
5g.75426440T>CCA444681382CERT1n.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
5g.75426440T>GCA444681372CERT1n.817A>C
c.387A>C (p.Arg129=)
c.179A>C
c.771A>C (p.Arg257=)
c.-10A>C (n.-10A>C)
n.600A>C
5g.75426440T=CA1556119744CERT1n.817A=
c.387A= (p.Arg129=)
c.179A=
c.771A= (p.Arg257=)
c.-10A= (n.-10A=)
n.600A=
5g.75426441C>ACA360137087CERT1n.816G>T
c.386G>T (p.Arg129Leu)
c.178G>T
c.770G>T (p.Arg257Leu)
c.-11G>T (n.-11G>T)
n.599G>T
5g.75426441C=CA1556119745CERT1n.816G=
c.386G= (p.Arg129=)
c.178G=
c.770G= (p.Arg257=)
c.-11G= (n.-11G=)
n.599G=
5g.75426441C>GCA360137089CERT1n.816G>C
c.386G>C (p.Arg129Pro)
c.178G>C
c.770G>C (p.Arg257Pro)
c.-11G>C (n.-11G>C)
n.599G>C
5g.75426441C>TCA120924632CERT1n.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
5g.75426442G>ACA360137092CERT1n.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
5g.75426442G>CCA360137094CERT1n.815C>G
c.385C>G (p.Arg129Gly)
c.177C>G
c.769C>G (p.Arg257Gly)
c.-12C>G (n.-12C>G)
n.598C>G
5g.75426442G=CA1556119746CERT1n.815C=
c.385C= (p.Arg129=)
c.177C=
c.769C= (p.Arg257=)
c.-12C= (n.-12C=)
n.598C=
5g.75426442G>TCA444681397CERT1n.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
5g.75426443A>CCA444681399CERT1n.814T>G
c.384T>G (p.Arg128=)
c.176T>G
c.768T>G (p.Arg256=)
c.-13T>G (n.-13T>G)
n.597T>G
5g.75426443A>GCA444681402CERT1n.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
5g.75426443A>TCA444681400CERT1n.814T>A
c.384T>A (p.Arg128=)
c.176T>A
c.768T>A (p.Arg256=)
c.-13T>A (n.-13T>A)
n.597T>A
5g.75426444C>ACA360137095CERT1n.813G>T
c.383G>T (p.Arg128Leu)
c.175G>T
c.767G>T (p.Arg256Leu)
c.-14G>T (n.-14G>T)
n.596G>T
5g.75426444C=CA1556119747CERT1n.813G=
c.383G= (p.Arg128=)
c.175G=
c.767G= (p.Arg256=)
c.-14G= (n.-14G=)
n.596G=
5g.75426444C>GCA360137097CERT1n.813G>C
c.383G>C (p.Arg128Pro)
c.175G>C
c.767G>C (p.Arg256Pro)
c.-14G>C (n.-14G>C)
n.596G>C
5g.75426444C>TCA3309281CERT1n.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
5g.75426445G>ACA360137102CERT1n.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
5g.75426445G>CCA360137103CERT1n.812C>G
c.382C>G (p.Arg128Gly)
c.174C>G
c.766C>G (p.Arg256Gly)
c.-15C>G (n.-15C>G)
n.595C>G
5g.75426445G=CA1556119748CERT1n.812C=
c.382C= (p.Arg128=)
c.174C=
c.766C= (p.Arg256=)
c.-15C= (n.-15C=)
n.595C=
5g.75426445G>TCA360137106CERT1n.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
5g.75426446C>ACA360137109CERT1n.811G>T
c.381G>T (p.Leu127Phe)
c.173G>T
c.765G>T (p.Leu255Phe)
c.-16G>T (n.-16G>T)
n.594G>T
5g.75426446C>GCA360137108CERT1n.811G>C
c.381G>C (p.Leu127Phe)
c.173G>C
c.765G>C (p.Leu255Phe)
c.-16G>C (n.-16G>C)
n.594G>C
5g.75426446C>TCA444681423CERT1n.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
5g.75426447A>CCA360137111CERT1n.810T>G
c.380T>G (p.Leu127Trp)
c.172T>G
c.764T>G (p.Leu255Trp)
c.-17T>G (n.-17T>G)
n.593T>G
5g.75426447A>GCA360137112CERT1n.810T>C
c.380T>C (p.Leu127Ser)
c.172T>C
c.764T>C (p.Leu255Ser)
c.-17T>C (n.-17T>C)
n.593T>C
5g.75426447A>TCA360137113CERT1n.810T>A
c.380T>A (p.Leu127Ter)
c.172T>A
c.764T>A (p.Leu255Ter)
c.-17T>A (n.-17T>A)
n.593T>A
5g.75426448A>CCA360137117CERT1n.809T>G
c.379T>G (p.Leu127Val)
c.171T>G
c.763T>G (p.Leu255Val)
c.-18T>G (n.-18T>G)
n.592T>G
5g.75426448A>GCA444681429CERT1n.809T>C
c.379T>C (p.Leu127=)
c.171T>C
c.763T>C (p.Leu255=)
c.-18T>C (n.-18T>C)
n.592T>C
5g.75426448A>TCA360137119CERT1n.809T>A
c.379T>A (p.Leu127Met)
c.171T>A
c.763T>A (p.Leu255Met)
c.-18T>A (n.-18T>A)
n.592T>A
5g.75426449G>ACA444681431CERT1n.808C>T
c.378C>T (p.Ser126=)
c.170C>T
c.762C>T (p.Ser254=)
c.-19C>T (n.-19C>T)
n.591C>T
5g.75426449G>CCA360137122CERT1n.808C>G
c.378C>G (p.Ser126Arg)
c.170C>G
c.762C>G (p.Ser254Arg)
c.-19C>G (n.-19C>G)
n.591C>G
5g.75426449G>TCA360137124CERT1n.808C>A
c.378C>A (p.Ser126Arg)
c.170C>A
c.762C>A (p.Ser254Arg)
c.-19C>A (n.-19C>A)
n.591C>A
5g.75426450C>ACA360137126CERT1n.807G>T
c.377G>T (p.Ser126Ile)
c.169G>T
c.761G>T (p.Ser254Ile)
c.-20G>T (n.-20G>T)
n.590G>T
5g.75426450C=CA1556119749CERT1n.807G=
c.377G= (p.Ser126=)
c.169G=
c.761G= (p.Ser254=)
c.-20G= (n.-20G=)
n.590G=
5g.75426450C>GCA360137127CERT1n.807G>C
c.377G>C (p.Ser126Thr)
c.169G>C
c.761G>C (p.Ser254Thr)
c.-20G>C (n.-20G>C)
n.590G>C
 dbSNP gnomAD v2 gnomAD v4
5g.75426450C>TCA360137129CERT1n.807G>A
c.377G>A (p.Ser126Asn)
c.169G>A
c.761G>A (p.Ser254Asn)
c.-20G>A (n.-20G>A)
n.590G>A
5g.75426451T>ACA360137132CERT1n.806A>T
c.376A>T (p.Ser126Cys)
c.168A>T
c.760A>T (p.Ser254Cys)
c.-21A>T (n.-21A>T)
n.589A>T
5g.75426451T>CCA360137134CERT1n.806A>G
c.376A>G (p.Ser126Gly)
c.168A>G
c.760A>G (p.Ser254Gly)
c.-21A>G (n.-21A>G)
n.589A>G
 gnomAD v4
5g.75426451T>GCA360137136CERT1n.806A>C
c.376A>C (p.Ser126Arg)
c.168A>C
c.760A>C (p.Ser254Arg)
c.-21A>C (n.-21A>C)
n.589A>C
5g.75426452G>ACA444681444CERT1n.805C>T
c.375C>T (p.Ser125=)
c.167C>T
c.759C>T (p.Ser253=)
c.-22C>T (n.-22C>T)
n.588C>T
5g.75426452G>CCA444681445CERT1n.805C>G
c.375C>G (p.Ser125=)
c.167C>G
c.759C>G (p.Ser253=)
c.-22C>G (n.-22C>G)
n.588C>G
5g.75426452G>TCA444681447CERT1n.805C>A
c.375C>A (p.Ser125=)
c.167C>A
c.759C>A (p.Ser253=)
c.-22C>A (n.-22C>A)
n.588C>A
5g.75426453G>ACA360137138CERT1n.804C>T
c.374C>T (p.Ser125Phe)
c.166C>T
c.758C>T (p.Ser253Phe)
c.-23C>T (n.-23C>T)
n.587C>T
5g.75426453G>CCA360137142CERT1n.804C>G
c.374C>G (p.Ser125Cys)
c.166C>G
c.758C>G (p.Ser253Cys)
c.-23C>G (n.-23C>G)
n.587C>G
5g.75426453G>TCA360137140CERT1n.804C>A
c.374C>A (p.Ser125Tyr)
c.166C>A
c.758C>A (p.Ser253Tyr)
c.-23C>A (n.-23C>A)
n.587C>A
5g.75426454A>CCA360137144CERT1n.803T>G
c.373T>G (p.Ser125Ala)
c.165T>G
c.757T>G (p.Ser253Ala)
c.-24T>G (n.-24T>G)
n.586T>G
5g.75426454A>GCA360137147CERT1n.803T>C
c.373T>C (p.Ser125Pro)
c.165T>C
c.757T>C (p.Ser253Pro)
c.-24T>C (n.-24T>C)
n.586T>C
5g.75426454A>TCA360137149CERT1n.803T>A
c.373T>A (p.Ser125Thr)
c.165T>A
c.757T>A (p.Ser253Thr)
c.-24T>A (n.-24T>A)
n.586T>A

Number of alleles fetched