Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.42693241_42693256delCA2819076047A4GALT,CYB5R3c.-49+27544_-49+27559del (n.-49+27544_-49+27559del)
c.699_714del (p.Cys233TrpfsTer?)
22g.42693240C>ACA411811551A4GALT,CYB5R3c.-49+27557G>T (n.-49+27557G>T)
c.712G>T (p.Val238Leu)
22g.42693240C=CA2406870194A4GALT,CYB5R3c.-49+27557G= (n.-49+27557G=)
c.712G= (p.Val238=)
22g.42693240C>GCA411811553A4GALT,CYB5R3c.-49+27557G>C (n.-49+27557G>C)
c.712G>C (p.Val238Leu)
22g.42693240C>TCA324732230A4GALT,CYB5R3c.-49+27557G>A (n.-49+27557G>A)
c.712G>A (p.Val238Met)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
22g.42693241G>ACA10270233A4GALT,CYB5R3c.-49+27556C>T (n.-49+27556C>T)
c.711C>T (p.Phe237=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
22g.42693241G>CCA411811558A4GALT,CYB5R3c.-49+27556C>G (n.-49+27556C>G)
c.711C>G (p.Phe237Leu)
gnomAD v4
22g.42693241G=CA2406870195A4GALT,CYB5R3c.-49+27556C= (n.-49+27556C=)
c.711C= (p.Phe237=)
22g.42693241G>TCA411811560A4GALT,CYB5R3c.-49+27556C>A (n.-49+27556C>A)
c.711C>A (p.Phe237Leu)
gnomAD v4
22g.42693242A>CCA411811567A4GALT,CYB5R3c.-49+27555T>G (n.-49+27555T>G)
c.710T>G (p.Phe237Cys)
22g.42693242A>GCA411811563A4GALT,CYB5R3c.-49+27555T>C (n.-49+27555T>C)
c.710T>C (p.Phe237Ser)
22g.42693242A>TCA411811565A4GALT,CYB5R3c.-49+27555T>A (n.-49+27555T>A)
c.710T>A (p.Phe237Tyr)
22g.42693243A=CA2406870196A4GALT,CYB5R3c.-49+27554T= (n.-49+27554T=)
c.709T= (p.Phe237=)
22g.42693243A>CCA411811569A4GALT,CYB5R3c.-49+27554T>G (n.-49+27554T>G)
c.709T>G (p.Phe237Val)
22g.42693243A>GCA411811571A4GALT,CYB5R3c.-49+27554T>C (n.-49+27554T>C)
c.709T>C (p.Phe237Leu)
22g.42693243A>TCA324732234A4GALT,CYB5R3c.-49+27554T>A (n.-49+27554T>A)
c.709T>A (p.Phe237Ile)
dbSNP
22g.42693244G>ACA515070887A4GALT,CYB5R3c.-49+27553C>T (n.-49+27553C>T)
c.708C>T (p.Asp236=)
gnomAD v4
22g.42693244G>CCA411811573A4GALT,CYB5R3c.-49+27553C>G (n.-49+27553C>G)
c.708C>G (p.Asp236Glu)
gnomAD v4
22g.42693244G>TCA411811575A4GALT,CYB5R3c.-49+27553C>A (n.-49+27553C>A)
c.708C>A (p.Asp236Glu)
22g.42693245T>ACA411811577A4GALT,CYB5R3c.-49+27552A>T (n.-49+27552A>T)
c.707A>T (p.Asp236Val)
22g.42693245T>CCA411811578A4GALT,CYB5R3c.-49+27552A>G (n.-49+27552A>G)
c.707A>G (p.Asp236Gly)
gnomAD v4
22g.42693245T>GCA411811579A4GALT,CYB5R3c.-49+27552A>C (n.-49+27552A>C)
c.707A>C (p.Asp236Ala)
22g.42693246C>ACA411811580A4GALT,CYB5R3c.-49+27551G>T (n.-49+27551G>T)
c.706G>T (p.Asp236Tyr)
22g.42693246C>GCA411811581A4GALT,CYB5R3c.-49+27551G>C (n.-49+27551G>C)
c.706G>C (p.Asp236His)
22g.42693246C>TCA411811582A4GALT,CYB5R3c.-49+27551G>A (n.-49+27551G>A)
c.706G>A (p.Asp236Asn)
22g.42693247C>ACA515070898A4GALT,CYB5R3c.-49+27550G>T (n.-49+27550G>T)
c.705G>T (p.Arg235=)
22g.42693247C=CA2406870197A4GALT,CYB5R3c.-49+27550G= (n.-49+27550G=)
c.705G= (p.Arg235=)
22g.42693247C>GCA515070899A4GALT,CYB5R3c.-49+27550G>C (n.-49+27550G>C)
c.705G>C (p.Arg235=)
22g.42693247C>TCA515070901A4GALT,CYB5R3c.-49+27550G>A (n.-49+27550G>A)
c.705G>A (p.Arg235=)
dbSNP gnomAD v2 gnomAD v4
22g.42693248C>ACA411811587A4GALT,CYB5R3c.-49+27549G>T (n.-49+27549G>T)
c.704G>T (p.Arg235Leu)
dbSNP
22g.42693248C=CA2406870198A4GALT,CYB5R3c.-49+27549G= (n.-49+27549G=)
c.704G= (p.Arg235=)
22g.42693248C>GCA411811585A4GALT,CYB5R3c.-49+27549G>C (n.-49+27549G>C)
c.704G>C (p.Arg235Pro)
22g.42693248C>TCA10270234A4GALT,CYB5R3c.-49+27549G>A (n.-49+27549G>A)
c.704G>A (p.Arg235Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.42693249G>ACA10270235A4GALT,CYB5R3c.-49+27548C>T (n.-49+27548C>T)
c.703C>T (p.Arg235Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.42693249G>CCA411811593A4GALT,CYB5R3c.-49+27548C>G (n.-49+27548C>G)
c.703C>G (p.Arg235Gly)
22g.42693249G=CA2406870199A4GALT,CYB5R3c.-49+27548C= (n.-49+27548C=)
c.703C= (p.Arg235=)
22g.42693249G>TCA10270236A4GALT,CYB5R3c.-49+27548C>A (n.-49+27548C>A)
c.703C>A (p.Arg235=)
dbSNP ExAC gnomAD v2
22g.42693250C>ACA411811595A4GALT,CYB5R3c.-49+27547G>T (n.-49+27547G>T)
c.702G>T (p.Met234Ile)
22g.42693250C=CA2406870200A4GALT,CYB5R3c.-49+27547G= (n.-49+27547G=)
c.702G= (p.Met234=)
22g.42693250C>GCA411811599A4GALT,CYB5R3c.-49+27547G>C (n.-49+27547G>C)
c.702G>C (p.Met234Ile)
22g.42693250C>TCA411811597A4GALT,CYB5R3c.-49+27547G>A (n.-49+27547G>A)
c.702G>A (p.Met234Ile)
dbSNP gnomAD v2 gnomAD v4
22g.42693251A>CCA411811602A4GALT,CYB5R3c.-49+27546T>G (n.-49+27546T>G)
c.701T>G (p.Met234Arg)
22g.42693251A>GCA411811603A4GALT,CYB5R3c.-49+27546T>C (n.-49+27546T>C)
c.701T>C (p.Met234Thr)
22g.42693251A>TCA411811606A4GALT,CYB5R3c.-49+27546T>A (n.-49+27546T>A)
c.701T>A (p.Met234Lys)
22g.42693252T>ACA411811608A4GALT,CYB5R3c.-49+27545A>T (n.-49+27545A>T)
c.700A>T (p.Met234Leu)
22g.42693252T>CCA10270237A4GALT,CYB5R3c.-49+27545A>G (n.-49+27545A>G)
c.700A>G (p.Met234Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.42693252T>GCA411811611A4GALT,CYB5R3c.-49+27545A>C (n.-49+27545A>C)
c.700A>C (p.Met234Leu)
dbSNP
22g.42693252T=CA2406870201A4GALT,CYB5R3c.-49+27545A= (n.-49+27545A=)
c.700A= (p.Met234=)
22g.42693253G>ACA515070916A4GALT,CYB5R3c.-49+27544C>T (n.-49+27544C>T)
c.699C>T (p.Cys233=)
22g.42693253G>CCA411811613A4GALT,CYB5R3c.-49+27544C>G (n.-49+27544C>G)
c.699C>G (p.Cys233Trp)

Number of alleles fetched