Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.186194470T>CCA3162470CYP4V2c.215-30T>C (p.=)
c.-96-30T>C (p.=)
 dbSNP ExAC gnomAD
4g.186194470T=CA1519914888CYP4V2c.215-30T= (p.=)
c.-96-30T= (p.=)
4g.186194471T>GCA112120882CYP4V2c.215-29T>G (p.=)
c.-96-29T>G (p.=)
 dbSNP
4g.186194471T=CA1519914891CYP4V2c.215-29T= (p.=)
c.-96-29T= (p.=)
4g.186194472G>CCA112120890CYP4V2c.215-28G>C (p.=)
c.-96-28G>C (p.=)
 dbSNP gnomAD
4g.186194472G=CA1519914895CYP4V2c.215-28G= (p.=)
c.-96-28G= (p.=)
4g.186194472G>TCA557053366CYP4V2c.215-28G>T (p.=)
c.-96-28G>T (p.=)
 gnomAD
4g.186194476T>CCA792317650CYP4V2c.215-24T>C (p.=)
c.-96-24T>C (p.=)
4g.186194476T=CA1519914896CYP4V2c.215-24T= (p.=)
c.-96-24T= (p.=)
4g.186194478C>ACA3162471CYP4V2c.215-22C>A (p.=)
c.-96-22C>A (p.=)
 dbSNP ExAC gnomAD
4g.186194478C=CA1519914899CYP4V2c.215-22C= (p.=)
c.-96-22C= (p.=)
4g.186194478C>GCA1519914900CYP4V2c.215-22C>G (p.=)
c.-96-22C>G (p.=)
4g.186194479A=CA1519914906CYP4V2c.215-21A= (p.=)
c.-96-21A= (p.=)
4g.186194479A>CCA3162472CYP4V2c.215-21A>C (p.=)
c.-96-21A>C (p.=)
 dbSNP ExAC
4g.186194480A=CA1519914912CYP4V2c.215-20A= (p.=)
c.-96-20A= (p.=)
4g.186194480A>GCA1519914914CYP4V2c.215-20A>G (p.=)
c.-96-20A>G (p.=)
4g.186194480A>TCA3162473CYP4V2c.215-20A>T (p.=)
c.-96-20A>T (p.=)
 ExAC gnomAD
4g.186194487T>CCA557053367CYP4V2c.215-13T>C (p.=)
c.-96-13T>C (p.=)
 gnomAD
4g.186194487T=CA1519914917CYP4V2c.215-13T= (p.=)
c.-96-13T= (p.=)
4g.186194488G>ACA112120891CYP4V2c.215-12G>A (p.=)
c.-96-12G>A (p.=)
 dbSNP
4g.186194488G=CA1519914920CYP4V2c.215-12G= (p.=)
c.-96-12G= (p.=)
4g.186194491T>ACA1519914927CYP4V2c.215-9T>A (p.=)
c.-96-9T>A (p.=)
4g.186194491T=CA1519914926CYP4V2c.215-9T= (p.=)
c.-96-9T= (p.=)
4g.186194494C=CA1519914930CYP4V2c.215-6C= (p.=)
c.-96-6C= (p.=)
4g.186194494C>TCA3162474CYP4V2c.215-6C>T (p.=)
c.-96-6C>T (p.=)
 dbSNP ExAC gnomAD
4g.186194497C=CA1519914934CYP4V2c.215-3C= (p.=)
c.-96-3C= (p.=)
4g.186194497C>TCA1519914936CYP4V2c.215-3C>T (p.=)
c.-96-3C>T (p.=)
4g.186194498A>CCA358946785CYP4V2c.215-2A>C (p.=)
c.-96-2A>C (p.=)
4g.186194498A>GCA358946786CYP4V2c.215-2A>G (p.=)
c.-96-2A>G (p.=)
4g.186194498A>TCA358946787CYP4V2c.215-2A>T (p.=)
c.-96-2A>T (p.=)
4g.186194499G>ACA358946788CYP4V2c.215-1G>A (p.=)
c.-96-1G>A (p.=)
4g.186194499G>CCA358946790CYP4V2c.215-1G>C (p.=)
c.-96-1G>C (p.=)
4g.186194499G>TCA358946789CYP4V2c.215-1G>T (p.=)
c.-96-1G>T (p.=)
4g.186194500A>CCA358946791CYP4V2c.215A>C (p.Glu72Ala)
c.-96A>C (p.=)
4g.186194500A>GCA358946792CYP4V2c.215A>G (p.Glu72Gly)
c.-96A>G (p.=)
4g.186194500A>TCA358946793CYP4V2c.215A>T (p.Glu72Val)
c.-96A>T (p.=)
4g.186194501A=CA1519914944CYP4V2c.216A= (p.Glu72=)
c.-95A= (p.=)
4g.186194501A>CCA358946794CYP4V2c.216A>C (p.Glu72Asp)
c.-95A>C (p.=)
4g.186194501A>GCA442638668CYP4V2c.216A>G (p.Glu72=)
c.-95A>G (p.=)
4g.186194501A>TCA358946795CYP4V2c.216A>T (p.Glu72Asp)
c.-95A>T (p.=)
 gnomAD
4g.186194501_186194503delinsATTCA1519914940CYP4V2c.216_218delinsATT (p.Glu72=)
c.-95_-93delinsATT (p.=)
4g.186194502T>ACA358946796CYP4V2c.217T>A (p.Phe73Ile)
c.-94T>A (p.=)
4g.186194502T>CCA112120895CYP4V2c.217T>C (p.Phe73Leu)
c.-94T>C (p.=)
 dbSNP
4g.186194502T>GCA3162475CYP4V2c.217T>G (p.Phe73Val)
c.-94T>G (p.=)
 dbSNP ExAC gnomAD
4g.186194502T=CA1519914960CYP4V2c.217T= (p.Phe73=)
c.-94T= (p.=)
4g.186194506_186194507delCA913189918CYP4V2c.221_222del (p.Phe74SerfsTer5)
c.-90_-89del (p.=)
 ClinVar dbSNP
4g.186194503T>ACA358946797CYP4V2c.218T>A (p.Phe73Tyr)
c.-93T>A (p.=)
4g.186194503T>CCA358946798CYP4V2c.218T>C (p.Phe73Ser)
c.-93T>C (p.=)
4g.186194503T>GCA358946799CYP4V2c.218T>G (p.Phe73Cys)
c.-93T>G (p.=)
4g.186194504T>ACA3162476CYP4V2c.219T>A (p.Phe73Leu)
c.-92T>A (p.=)
 dbSNP ExAC gnomAD

Number of alleles fetched