Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.18599559A>CCA2583603675CRLF1c.397+6T>G (n.397+6T>G)
c.331+6T>G (n.331+6T>G)
gnomAD v4
19g.18599560C>TCA2583603676CRLF1c.397+5G>A (n.397+5G>A)
c.331+5G>A (n.331+5G>A)
gnomAD v4
19g.18599561T>CCA2326433768CRLF1c.397+4A>G (n.397+4A>G)
c.331+4A>G (n.331+4A>G)
dbSNP
19g.18599561T=CA2326433769CRLF1c.397+4A= (n.397+4A=)
c.331+4A= (n.331+4A=)
19g.18599562T=CA2326433770CRLF1c.397+3A= (n.397+3A=)
c.331+3A= (n.331+3A=)
19g.18599563A>CCA404851789CRLF1c.397+2T>G (n.397+2T>G)
c.331+2T>G (n.331+2T>G)
19g.18599563A>GCA404851790CRLF1c.397+2T>C (n.397+2T>C)
c.331+2T>C (n.331+2T>C)
19g.18599563A>TCA404851791CRLF1c.397+2T>A (n.397+2T>A)
c.331+2T>A (n.331+2T>A)
19g.18599563dupCA632626405CRLF1c.397+2dup (n.397+2dup)
c.331+2dup (n.331+2dup)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18599564C>ACA404851792CRLF1c.397+1G>T (n.397+1G>T)
c.331+1G>T (n.331+1G>T)
19g.18599564C=CA2326433771CRLF1c.397+1G= (n.397+1G=)
c.331+1G= (n.331+1G=)
19g.18599564C>GCA404851793CRLF1c.397+1G>C (n.397+1G>C)
c.331+1G>C (n.331+1G>C)
19g.18599564C>TCA342063CRLF1c.397+1G>A (n.397+1G>A)
c.331+1G>A (n.331+1G>A)
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.18599565G>ACA9314267CRLF1c.397C>T (p.Leu133=)
c.331C>T (p.Leu111=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18599565G>CCA404851795CRLF1c.397C>G (p.Leu133Val)
c.331C>G (p.Leu111Val)
19g.18599565G=CA2326433772CRLF1c.397C= (p.Leu133=)
c.331C= (p.Leu111=)
19g.18599565G>TCA404851794CRLF1c.397C>A (p.Leu133Met)
c.331C>A (p.Leu111Met)
19g.18599566G>ACA506044548CRLF1c.396C>T (p.Gly132=)
c.330C>T (p.Gly110=)
gnomAD v4
19g.18599566G>CCA506044546CRLF1c.396C>G (p.Gly132=)
c.330C>G (p.Gly110=)
19g.18599566G>TCA506044547CRLF1c.396C>A (p.Gly132=)
c.330C>A (p.Gly110=)
19g.18599567C>ACA404851796CRLF1c.395G>T (p.Gly132Val)
c.329G>T (p.Gly110Val)
COSMIC
19g.18599567C=CA2326433773CRLF1c.395G= (p.Gly132=)
c.329G= (p.Gly110=)
19g.18599567C>GCA404851797CRLF1c.395G>C (p.Gly132Ala)
c.329G>C (p.Gly110Ala)
19g.18599567C>TCA306262194CRLF1c.395G>A (p.Gly132Asp)
c.329G>A (p.Gly110Asp)
ClinVar dbSNP gnomAD v4
19g.18599568C>ACA404851798CRLF1c.394G>T (p.Gly132Cys)
c.328G>T (p.Gly110Cys)
19g.18599568C>GCA404851799CRLF1c.394G>C (p.Gly132Arg)
c.328G>C (p.Gly110Arg)
19g.18599568C>TCA404851800CRLF1c.394G>A (p.Gly132Ser)
c.328G>A (p.Gly110Ser)
gnomAD v4
19g.18599569A>CCA506044549CRLF1c.393T>G (p.Val131=)
c.327T>G (p.Val109=)
19g.18599569A>GCA506044550CRLF1c.393T>C (p.Val131=)
c.327T>C (p.Val109=)
19g.18599569A>TCA506044551CRLF1c.393T>A (p.Val131=)
c.327T>A (p.Val109=)
19g.18599570dupCA2583603677CRLF1c.393dup (p.Gly132TrpfsTer?)
c.327dup (p.Gly110TrpfsTer?)
gnomAD v4
19g.18599570A>CCA404851803CRLF1c.392T>G (p.Val131Gly)
c.326T>G (p.Val109Gly)
19g.18599570A>GCA404851801CRLF1c.392T>C (p.Val131Ala)
c.326T>C (p.Val109Ala)
19g.18599570A>TCA404851802CRLF1c.392T>A (p.Val131Asp)
c.326T>A (p.Val109Asp)
19g.18599571C>ACA404851804CRLF1c.391G>T (p.Val131Phe)
c.325G>T (p.Val109Phe)
19g.18599571C=CA2326433774CRLF1c.391G= (p.Val131=)
c.325G= (p.Val109=)
19g.18599571C>GCA9314268CRLF1c.391G>C (p.Val131Leu)
c.325G>C (p.Val109Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18599571C>TCA404851805CRLF1c.391G>A (p.Val131Ile)
c.325G>A (p.Val109Ile)
dbSNP
19g.18599572A=CA2326433775CRLF1c.390T= (p.Tyr130=)
c.324T= (p.Tyr108=)
19g.18599572A>CCA404851806CRLF1c.390T>G (p.Tyr130Ter)
c.324T>G (p.Tyr108Ter)
19g.18599572A>GCA306262201CRLF1c.390T>C (p.Tyr130=)
c.324T>C (p.Tyr108=)
dbSNP gnomAD v3 gnomAD v4
19g.18599572A>TCA404851807CRLF1c.390T>A (p.Tyr130Ter)
c.324T>A (p.Tyr108Ter)
19g.18599573T>ACA404851808CRLF1c.389A>T (p.Tyr130Phe)
c.323A>T (p.Tyr108Phe)
19g.18599573T>CCA404851810CRLF1c.389A>G (p.Tyr130Cys)
c.323A>G (p.Tyr108Cys)
dbSNP gnomAD v3 gnomAD v4
19g.18599573T>GCA404851809CRLF1c.389A>C (p.Tyr130Ser)
c.323A>C (p.Tyr108Ser)
19g.18599573T=CA2326433776CRLF1c.389A= (p.Tyr130=)
c.323A= (p.Tyr108=)
19g.18599574A>CCA404851811CRLF1c.388T>G (p.Tyr130Asp)
c.322T>G (p.Tyr108Asp)
19g.18599574A>GCA404851812CRLF1c.388T>C (p.Tyr130His)
c.322T>C (p.Tyr108His)
19g.18599574A>TCA404851813CRLF1c.388T>A (p.Tyr130Asn)
c.322T>A (p.Tyr108Asn)
19g.18599575G>ACA506044552CRLF1c.387C>T (p.Leu129=)
c.321C>T (p.Leu107=)

Number of alleles fetched