Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.42693650G>ACA411812613A4GALT,CYB5R3c.-49+27147C>T (n.-49+27147C>T)
c.302C>T (p.Ala101Val)
22g.42693650G>CCA411812614A4GALT,CYB5R3c.-49+27147C>G (n.-49+27147C>G)
c.302C>G (p.Ala101Gly)
22g.42693650G>TCA411812615A4GALT,CYB5R3c.-49+27147C>A (n.-49+27147C>A)
c.302C>A (p.Ala101Asp)
22g.42693650_42693651delinsGCCA2406870406A4GALT,CYB5R3c.-49+27146_-49+27147delinsGC (n.-49+27146_-49+27147delinsGC)
c.301_302delinsGC (p.Ala101=)
22g.42693651C>ACA411812616A4GALT,CYB5R3c.-49+27146G>T (n.-49+27146G>T)
c.301G>T (p.Ala101Ser)
22g.42693651C>GCA411812617A4GALT,CYB5R3c.-49+27146G>C (n.-49+27146G>C)
c.301G>C (p.Ala101Pro)
22g.42693651C>TCA411812618A4GALT,CYB5R3c.-49+27146G>A (n.-49+27146G>A)
c.301G>A (p.Ala101Thr)
22g.42693652delCA639829280A4GALT,CYB5R3c.-49+27146del (n.-49+27146del)
c.301del (p.Ala101ProfsTer13)
 dbSNP gnomAD v2 gnomAD v4
22g.42693652C>ACA515071750A4GALT,CYB5R3c.-49+27145G>T (n.-49+27145G>T)
c.300G>T (p.Ser100=)
 gnomAD v4
22g.42693652C=CA2406870407A4GALT,CYB5R3c.-49+27145G= (n.-49+27145G=)
c.300G= (p.Ser100=)
22g.42693652C>GCA10270335A4GALT,CYB5R3c.-49+27145G>C (n.-49+27145G>C)
c.300G>C (p.Ser100=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.42693652C>TCA10270336A4GALT,CYB5R3c.-49+27145G>A (n.-49+27145G>A)
c.300G>A (p.Ser100=)
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.42693653G>ACA10270337A4GALT,CYB5R3c.-49+27144C>T (n.-49+27144C>T)
c.299C>T (p.Ser100Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.42693653G>CCA411812619A4GALT,CYB5R3c.-49+27144C>G (n.-49+27144C>G)
c.299C>G (p.Ser100Trp)
22g.42693653G=CA2406870408A4GALT,CYB5R3c.-49+27144C= (n.-49+27144C=)
c.299C= (p.Ser100=)
22g.42693653G>TCA411812620A4GALT,CYB5R3c.-49+27144C>A (n.-49+27144C>A)
c.299C>A (p.Ser100Ter)
 dbSNP gnomAD v2 gnomAD v4
22g.42693654A>CCA411812622A4GALT,CYB5R3c.-49+27143T>G (n.-49+27143T>G)
c.298T>G (p.Ser100Ala)
22g.42693654A>GCA411812623A4GALT,CYB5R3c.-49+27143T>C (n.-49+27143T>C)
c.298T>C (p.Ser100Pro)
 gnomAD v4
22g.42693654A>TCA411812621A4GALT,CYB5R3c.-49+27143T>A (n.-49+27143T>A)
c.298T>A (p.Ser100Thr)
22g.42693655delCA2577739312A4GALT,CYB5R3c.-49+27142del (n.-49+27142del)
c.297del (p.Glu99AspfsTer15)
 gnomAD v4
22g.42693655C>ACA411812624A4GALT,CYB5R3c.-49+27142G>T (n.-49+27142G>T)
c.297G>T (p.Glu99Asp)
22g.42693655C=CA2406870409A4GALT,CYB5R3c.-49+27142G= (n.-49+27142G=)
c.297G= (p.Glu99=)
22g.42693655C>GCA411812625A4GALT,CYB5R3c.-49+27142G>C (n.-49+27142G>C)
c.297G>C (p.Glu99Asp)
 dbSNP
22g.42693655C>TCA515071766A4GALT,CYB5R3c.-49+27142G>A (n.-49+27142G>A)
c.297G>A (p.Glu99=)
22g.42693656T>ACA411812626A4GALT,CYB5R3c.-49+27141A>T (n.-49+27141A>T)
c.296A>T (p.Glu99Val)
22g.42693656T>CCA411812627A4GALT,CYB5R3c.-49+27141A>G (n.-49+27141A>G)
c.296A>G (p.Glu99Gly)
22g.42693656T>GCA411812628A4GALT,CYB5R3c.-49+27141A>C (n.-49+27141A>C)
c.296A>C (p.Glu99Ala)
22g.42693657C>ACA411812631A4GALT,CYB5R3c.-49+27140G>T (n.-49+27140G>T)
c.295G>T (p.Glu99Ter)
22g.42693657C>GCA411812629A4GALT,CYB5R3c.-49+27140G>C (n.-49+27140G>C)
c.295G>C (p.Glu99Gln)
22g.42693657C>TCA411812630A4GALT,CYB5R3c.-49+27140G>A (n.-49+27140G>A)
c.295G>A (p.Glu99Lys)
22g.42693658C>ACA515071775A4GALT,CYB5R3c.-49+27139G>T (n.-49+27139G>T)
c.294G>T (p.Val98=)
22g.42693658C=CA2406870410A4GALT,CYB5R3c.-49+27139G= (n.-49+27139G=)
c.294G= (p.Val98=)
22g.42693658C>GCA515071776A4GALT,CYB5R3c.-49+27139G>C (n.-49+27139G>C)
c.294G>C (p.Val98=)
22g.42693658C>TCA515071778A4GALT,CYB5R3c.-49+27139G>A (n.-49+27139G>A)
c.294G>A (p.Val98=)
 dbSNP gnomAD v2 gnomAD v4
22g.42693659A=CA2406870411A4GALT,CYB5R3c.-49+27138T= (n.-49+27138T=)
c.293T= (p.Val98=)
22g.42693659A>CCA411812632A4GALT,CYB5R3c.-49+27138T>G (n.-49+27138T>G)
c.293T>G (p.Val98Gly)
22g.42693659A>GCA411812633A4GALT,CYB5R3c.-49+27138T>C (n.-49+27138T>C)
c.293T>C (p.Val98Ala)
 dbSNP gnomAD v4
22g.42693659A>TCA411812634A4GALT,CYB5R3c.-49+27138T>A (n.-49+27138T>A)
c.293T>A (p.Val98Glu)
22g.42693660C>ACA411812635A4GALT,CYB5R3c.-49+27137G>T (n.-49+27137G>T)
c.292G>T (p.Val98Leu)
22g.42693660C>GCA411812636A4GALT,CYB5R3c.-49+27137G>C (n.-49+27137G>C)
c.292G>C (p.Val98Leu)
22g.42693660C>TCA411812637A4GALT,CYB5R3c.-49+27137G>A (n.-49+27137G>A)
c.292G>A (p.Val98Met)
 gnomAD v4
22g.42693661C>ACA10270339A4GALT,CYB5R3c.-49+27136G>T (n.-49+27136G>T)
c.291G>T (p.Ser97=)
 dbSNP ExAC gnomAD v2
22g.42693661C=CA2406870412A4GALT,CYB5R3c.-49+27136G= (n.-49+27136G=)
c.291G= (p.Ser97=)
22g.42693661C>GCA515071793A4GALT,CYB5R3c.-49+27136G>C (n.-49+27136G>C)
c.291G>C (p.Ser97=)
 gnomAD v4
22g.42693661C>TCA10270338A4GALT,CYB5R3c.-49+27136G>A (n.-49+27136G>A)
c.291G>A (p.Ser97=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.42693662G>ACA10270340A4GALT,CYB5R3c.-49+27135C>T (n.-49+27135C>T)
c.290C>T (p.Ser97Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.42693662G>CCA411812639A4GALT,CYB5R3c.-49+27135C>G (n.-49+27135C>G)
c.290C>G (p.Ser97Trp)
 gnomAD v4
22g.42693662G=CA2406870413A4GALT,CYB5R3c.-49+27135C= (n.-49+27135C=)
c.290C= (p.Ser97=)
22g.42693662G>TCA411812638A4GALT,CYB5R3c.-49+27135C>A (n.-49+27135C>A)
c.290C>A (p.Ser97Ter)
22g.42693663A=CA2406870414A4GALT,CYB5R3c.-49+27134T= (n.-49+27134T=)
c.289T= (p.Ser97=)
22g.42693663A>CCA324732450A4GALT,CYB5R3c.-49+27134T>G (n.-49+27134T>G)
c.289T>G (p.Ser97Ala)
 dbSNP gnomAD v4
22g.42693663A>GCA411812640A4GALT,CYB5R3c.-49+27134T>C (n.-49+27134T>C)
c.289T>C (p.Ser97Pro)
22g.42693663A>TCA411812641A4GALT,CYB5R3c.-49+27134T>A (n.-49+27134T>A)
c.289T>A (p.Ser97Thr)
22g.42693664G>ACA515071808A4GALT,CYB5R3c.-49+27133C>T (n.-49+27133C>T)
c.288C>T (p.Cys96=)
 COSMIC
22g.42693664G>CCA411812642A4GALT,CYB5R3c.-49+27133C>G (n.-49+27133C>G)
c.288C>G (p.Cys96Trp)
22g.42693664G>TCA411812643A4GALT,CYB5R3c.-49+27133C>A (n.-49+27133C>A)
c.288C>A (p.Cys96Ter)
22g.42693665C>ACA411812644A4GALT,CYB5R3c.-49+27132G>T (n.-49+27132G>T)
c.287G>T (p.Cys96Phe)
 dbSNP
22g.42693665C=CA2406870415A4GALT,CYB5R3c.-49+27132G= (n.-49+27132G=)
c.287G= (p.Cys96=)
22g.42693665C>GCA411812645A4GALT,CYB5R3c.-49+27132G>C (n.-49+27132G>C)
c.287G>C (p.Cys96Ser)
22g.42693665C>TCA10270341A4GALT,CYB5R3c.-49+27132G>A (n.-49+27132G>A)
c.287G>A (p.Cys96Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.42693666A>CCA411812646A4GALT,CYB5R3c.-49+27131T>G (n.-49+27131T>G)
c.286T>G (p.Cys96Gly)
22g.42693666A>GCA411812647A4GALT,CYB5R3c.-49+27131T>C (n.-49+27131T>C)
c.286T>C (p.Cys96Arg)
22g.42693666A>TCA411812648A4GALT,CYB5R3c.-49+27131T>A (n.-49+27131T>A)
c.286T>A (p.Cys96Ser)
22g.42693667C>ACA411812651A4GALT,CYB5R3c.-49+27130G>T (n.-49+27130G>T)
c.285G>T (p.Met95Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.42693667C=CA2406870416A4GALT,CYB5R3c.-49+27130G= (n.-49+27130G=)
c.285G= (p.Met95=)
22g.42693667C>GCA411812649A4GALT,CYB5R3c.-49+27130G>C (n.-49+27130G>C)
c.285G>C (p.Met95Ile)
22g.42693667C>TCA411812650A4GALT,CYB5R3c.-49+27130G>A (n.-49+27130G>A)
c.285G>A (p.Met95Ile)
22g.42693668A=CA2406870417A4GALT,CYB5R3c.-49+27129T= (n.-49+27129T=)
c.284T= (p.Met95=)
22g.42693668A>CCA411812652A4GALT,CYB5R3c.-49+27129T>G (n.-49+27129T>G)
c.284T>G (p.Met95Arg)
22g.42693668A>GCA411812653A4GALT,CYB5R3c.-49+27129T>C (n.-49+27129T>C)
c.284T>C (p.Met95Thr)
 dbSNP gnomAD v4
22g.42693668A>TCA411812654A4GALT,CYB5R3c.-49+27129T>A (n.-49+27129T>A)
c.284T>A (p.Met95Lys)
22g.42693669T>ACA411812655A4GALT,CYB5R3c.-49+27128A>T (n.-49+27128A>T)
c.283A>T (p.Met95Leu)
22g.42693669T>CCA411812656A4GALT,CYB5R3c.-49+27128A>G (n.-49+27128A>G)
c.283A>G (p.Met95Val)
22g.42693669T>GCA411812657A4GALT,CYB5R3c.-49+27128A>C (n.-49+27128A>C)
c.283A>C (p.Met95Leu)
22g.42693670G>ACA515071830A4GALT,CYB5R3c.-49+27127C>T (n.-49+27127C>T)
c.282C>T (p.Phe94=)
22g.42693670G>CCA411812658A4GALT,CYB5R3c.-49+27127C>G (n.-49+27127C>G)
c.282C>G (p.Phe94Leu)
22g.42693670G>TCA411812659A4GALT,CYB5R3c.-49+27127C>A (n.-49+27127C>A)
c.282C>A (p.Phe94Leu)
22g.42693671A>CCA411812660A4GALT,CYB5R3c.-49+27126T>G (n.-49+27126T>G)
c.281T>G (p.Phe94Cys)
22g.42693671A>GCA411812661A4GALT,CYB5R3c.-49+27126T>C (n.-49+27126T>C)
c.281T>C (p.Phe94Ser)
22g.42693671A>TCA411812662A4GALT,CYB5R3c.-49+27126T>A (n.-49+27126T>A)
c.281T>A (p.Phe94Tyr)
22g.42693672A>CCA411812664A4GALT,CYB5R3c.-49+27125T>G (n.-49+27125T>G)
c.280T>G (p.Phe94Val)
22g.42693672A>GCA411812665A4GALT,CYB5R3c.-49+27125T>C (n.-49+27125T>C)
c.280T>C (p.Phe94Leu)
22g.42693672A>TCA411812663A4GALT,CYB5R3c.-49+27125T>A (n.-49+27125T>A)
c.280T>A (p.Phe94Ile)
22g.42693673C>ACA515071853A4GALT,CYB5R3c.-49+27124G>T (n.-49+27124G>T)
c.279G>T (p.Leu93=)
 dbSNP gnomAD v3 gnomAD v4
22g.42693673C=CA2406870418A4GALT,CYB5R3c.-49+27124G= (n.-49+27124G=)
c.279G= (p.Leu93=)
22g.42693673C>GCA515071850A4GALT,CYB5R3c.-49+27124G>C (n.-49+27124G>C)
c.279G>C (p.Leu93=)
22g.42693673C>TCA10270342A4GALT,CYB5R3c.-49+27124G>A (n.-49+27124G>A)
c.279G>A (p.Leu93=)
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.42693674A=CA2406870420A4GALT,CYB5R3c.-49+27123T= (n.-49+27123T=)
c.278T= (p.Leu93=)
22g.42693674A>CCA411812666A4GALT,CYB5R3c.-49+27123T>G (n.-49+27123T>G)
c.278T>G (p.Leu93Arg)
22g.42693674A>GCA411812667A4GALT,CYB5R3c.-49+27123T>C (n.-49+27123T>C)
c.278T>C (p.Leu93Pro)
 dbSNP gnomAD v2 gnomAD v4
22g.42693674A>TCA411812668A4GALT,CYB5R3c.-49+27123T>A (n.-49+27123T>A)
c.278T>A (p.Leu93Gln)
22g.42693674_42693675delinsAGCA2406870419A4GALT,CYB5R3c.-49+27122_-49+27123delinsCT (n.-49+27122_-49+27123delinsCT)
c.277_278delinsCT (p.Leu93=)
22g.42693675G>ACA10270345A4GALT,CYB5R3c.-49+27122C>T (n.-49+27122C>T)
c.277C>T (p.Leu93=)
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.42693675G>CCA411812669A4GALT,CYB5R3c.-49+27122C>G (n.-49+27122C>G)
c.277C>G (p.Leu93Val)
22g.42693675G=CA2406870421A4GALT,CYB5R3c.-49+27122C= (n.-49+27122C=)
c.277C= (p.Leu93=)
22g.42693675G>TCA10270344A4GALT,CYB5R3c.-49+27122C>A (n.-49+27122C>A)
c.277C>A (p.Leu93Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.42693676delCA10270343A4GALT,CYB5R3c.-49+27122del (n.-49+27122del)
c.277del (p.Leu93CysfsTer21)
 dbSNP ExAC gnomAD v2
22g.42693676G>ACA515071864A4GALT,CYB5R3c.-49+27121C>T (n.-49+27121C>T)
c.276C>T (p.Phe92=)
 dbSNP gnomAD v4
22g.42693676G>CCA411812670A4GALT,CYB5R3c.-49+27121C>G (n.-49+27121C>G)
c.276C>G (p.Phe92Leu)
22g.42693676G=CA2406870422A4GALT,CYB5R3c.-49+27121C= (n.-49+27121C=)
c.276C= (p.Phe92=)
22g.42693676G>TCA411812671A4GALT,CYB5R3c.-49+27121C>A (n.-49+27121C>A)
c.276C>A (p.Phe92Leu)
 gnomAD v4
22g.42693677A>CCA411812672A4GALT,CYB5R3c.-49+27120T>G (n.-49+27120T>G)
c.275T>G (p.Phe92Cys)
22g.42693677A>GCA411812673A4GALT,CYB5R3c.-49+27120T>C (n.-49+27120T>C)
c.275T>C (p.Phe92Ser)
22g.42693677A>TCA411812674A4GALT,CYB5R3c.-49+27120T>A (n.-49+27120T>A)
c.275T>A (p.Phe92Tyr)
22g.42693678A>CCA411812677A4GALT,CYB5R3c.-49+27119T>G (n.-49+27119T>G)
c.274T>G (p.Phe92Val)
22g.42693678A>GCA411812676A4GALT,CYB5R3c.-49+27119T>C (n.-49+27119T>C)
c.274T>C (p.Phe92Leu)
22g.42693678A>TCA411812675A4GALT,CYB5R3c.-49+27119T>A (n.-49+27119T>A)
c.274T>A (p.Phe92Ile)
 gnomAD v4
22g.42693679G>ACA515071880A4GALT,CYB5R3c.-49+27118C>T (n.-49+27118C>T)
c.273C>T (p.Asn91=)
22g.42693679G>CCA411812678A4GALT,CYB5R3c.-49+27118C>G (n.-49+27118C>G)
c.273C>G (p.Asn91Lys)
22g.42693679G=CA2406870423A4GALT,CYB5R3c.-49+27118C= (n.-49+27118C=)
c.273C= (p.Asn91=)
22g.42693679G>TCA411812679A4GALT,CYB5R3c.-49+27118C>A (n.-49+27118C>A)
c.273C>A (p.Asn91Lys)
 dbSNP gnomAD v3 gnomAD v4
22g.42693679_42693680delinsGTCA2406870424A4GALT,CYB5R3c.-49+27117_-49+27118delinsAC (n.-49+27117_-49+27118delinsAC)
c.272_273delinsAC (p.Asn91=)
22g.42693680T>ACA411812680A4GALT,CYB5R3c.-49+27117A>T (n.-49+27117A>T)
c.272A>T (p.Asn91Ile)
 gnomAD v4
22g.42693680T>CCA10270346A4GALT,CYB5R3c.-49+27117A>G (n.-49+27117A>G)
c.272A>G (p.Asn91Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.42693680T>GCA411812681A4GALT,CYB5R3c.-49+27117A>C (n.-49+27117A>C)
c.272A>C (p.Asn91Thr)
 gnomAD v3 gnomAD v4
22g.42693680T=CA2406870426A4GALT,CYB5R3c.-49+27117A= (n.-49+27117A=)
c.272A= (p.Asn91=)
22g.42693681delCA2406870425A4GALT,CYB5R3c.-49+27117del (n.-49+27117del)
c.272del (p.Asn91ThrfsTer23)
 dbSNP
22g.42693681T>ACA411812682A4GALT,CYB5R3c.-49+27116A>T (n.-49+27116A>T)
c.271A>T (p.Asn91Tyr)
22g.42693681T>CCA411812683A4GALT,CYB5R3c.-49+27116A>G (n.-49+27116A>G)
c.271A>G (p.Asn91Asp)
 gnomAD v4
22g.42693681T>GCA411812684A4GALT,CYB5R3c.-49+27116A>C (n.-49+27116A>C)
c.271A>C (p.Asn91His)
 dbSNP gnomAD v3 gnomAD v4
22g.42693681T=CA2406870427A4GALT,CYB5R3c.-49+27116A= (n.-49+27116A=)
c.271A= (p.Asn91=)
22g.42693682G>ACA515071911A4GALT,CYB5R3c.-49+27115C>T (n.-49+27115C>T)
c.270C>T (p.Pro90=)
 dbSNP gnomAD v4
22g.42693682G>CCA515071922A4GALT,CYB5R3c.-49+27115C>G (n.-49+27115C>G)
c.270C>G (p.Pro90=)
22g.42693682G=CA2406870428A4GALT,CYB5R3c.-49+27115C= (n.-49+27115C=)
c.270C= (p.Pro90=)
22g.42693682G>TCA10270347A4GALT,CYB5R3c.-49+27115C>A (n.-49+27115C>A)
c.270C>A (p.Pro90=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.42693683G>ACA411812685A4GALT,CYB5R3c.-49+27114C>T (n.-49+27114C>T)
c.269C>T (p.Pro90Leu)
 dbSNP gnomAD v2
22g.42693683G>CCA411812686A4GALT,CYB5R3c.-49+27114C>G (n.-49+27114C>G)
c.269C>G (p.Pro90Arg)
22g.42693683G=CA2406870429A4GALT,CYB5R3c.-49+27114C= (n.-49+27114C=)
c.269C= (p.Pro90=)
22g.42693683G>TCA411812687A4GALT,CYB5R3c.-49+27114C>A (n.-49+27114C>A)
c.269C>A (p.Pro90His)
 ClinVar gnomAD v4
22g.42693684G>ACA411812690A4GALT,CYB5R3c.-49+27113C>T (n.-49+27113C>T)
c.268C>T (p.Pro90Ser)
22g.42693684G>CCA411812689A4GALT,CYB5R3c.-49+27113C>G (n.-49+27113C>G)
c.268C>G (p.Pro90Ala)
22g.42693684G>TCA411812688A4GALT,CYB5R3c.-49+27113C>A (n.-49+27113C>A)
c.268C>A (p.Pro90Thr)
22g.42693685G>ACA515071938A4GALT,CYB5R3c.-49+27112C>T (n.-49+27112C>T)
c.267C>T (p.Asn89=)
22g.42693685G>CCA411812691A4GALT,CYB5R3c.-49+27112C>G (n.-49+27112C>G)
c.267C>G (p.Asn89Lys)
22g.42693685G>TCA411812692A4GALT,CYB5R3c.-49+27112C>A (n.-49+27112C>A)
c.267C>A (p.Asn89Lys)
22g.42693685_42693687delinsGTTCA2406870430A4GALT,CYB5R3c.-49+27110_-49+27112delinsAAC (n.-49+27110_-49+27112delinsAAC)
c.265_267delinsAAC (p.Asn89=)
22g.42693686T>ACA411812693A4GALT,CYB5R3c.-49+27111A>T (n.-49+27111A>T)
c.266A>T (p.Asn89Ile)
 gnomAD v4
22g.42693686T>CCA411812695A4GALT,CYB5R3c.-49+27111A>G (n.-49+27111A>G)
c.266A>G (p.Asn89Ser)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
22g.42693686T>GCA411812694A4GALT,CYB5R3c.-49+27111A>C (n.-49+27111A>C)
c.266A>C (p.Asn89Thr)
 gnomAD v3 gnomAD v4
22g.42693686T=CA2406870431A4GALT,CYB5R3c.-49+27111A= (n.-49+27111A=)
c.266A= (p.Asn89=)
22g.42693686_42693687delCA1025982033A4GALT,CYB5R3c.-49+27110_-49+27111del (n.-49+27110_-49+27111del)
c.265_266del (p.Asn89ProfsTer?)
 dbSNP gnomAD v3 gnomAD v4
22g.42693687T>ACA411812696A4GALT,CYB5R3c.-49+27110A>T (n.-49+27110A>T)
c.265A>T (p.Asn89Tyr)
22g.42693687T>CCA411812697A4GALT,CYB5R3c.-49+27110A>G (n.-49+27110A>G)
c.265A>G (p.Asn89Asp)
22g.42693687T>GCA411812698A4GALT,CYB5R3c.-49+27110A>C (n.-49+27110A>C)
c.265A>C (p.Asn89His)
22g.42693688G>ACA515071958A4GALT,CYB5R3c.-49+27109C>T (n.-49+27109C>T)
c.264C>T (p.Thr88=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
22g.42693688G>CCA515071960A4GALT,CYB5R3c.-49+27109C>G (n.-49+27109C>G)
c.264C>G (p.Thr88=)
22g.42693688G=CA2406870432A4GALT,CYB5R3c.-49+27109C= (n.-49+27109C=)
c.264C= (p.Thr88=)
22g.42693688G>TCA515071956A4GALT,CYB5R3c.-49+27109C>A (n.-49+27109C>A)
c.264C>A (p.Thr88=)
22g.42693689G>ACA411812699A4GALT,CYB5R3c.-49+27108C>T (n.-49+27108C>T)
c.263C>T (p.Thr88Ile)
 dbSNP gnomAD v4
22g.42693689G>CCA10270348A4GALT,CYB5R3c.-49+27108C>G (n.-49+27108C>G)
c.263C>G (p.Thr88Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.42693689G=CA2406870433A4GALT,CYB5R3c.-49+27108C= (n.-49+27108C=)
c.263C= (p.Thr88=)
22g.42693689G>TCA411812700A4GALT,CYB5R3c.-49+27108C>A (n.-49+27108C>A)
c.263C>A (p.Thr88Asn)
22g.42693690T>ACA411812701A4GALT,CYB5R3c.-49+27107A>T (n.-49+27107A>T)
c.262A>T (p.Thr88Ser)
22g.42693690T>CCA411812702A4GALT,CYB5R3c.-49+27107A>G (n.-49+27107A>G)
c.262A>G (p.Thr88Ala)
22g.42693690T>GCA411812703A4GALT,CYB5R3c.-49+27107A>C (n.-49+27107A>C)
c.262A>C (p.Thr88Pro)
22g.42693690_42693729delCA1025982034A4GALT,CYB5R3c.-49+27068_-49+27107del (n.-49+27068_-49+27107del)
c.223_262del (p.Thr75ProfsTer26)
 gnomAD v3 gnomAD v4
22g.42693691C>ACA515071714A4GALT,CYB5R3c.-49+27106G>T (n.-49+27106G>T)
c.261G>T (p.Arg87=)
 gnomAD v4
22g.42693691C>GCA515071717A4GALT,CYB5R3c.-49+27106G>C (n.-49+27106G>C)
c.261G>C (p.Arg87=)
22g.42693691C>TCA515071720A4GALT,CYB5R3c.-49+27106G>A (n.-49+27106G>A)
c.261G>A (p.Arg87=)
22g.42693692C>ACA10270350A4GALT,CYB5R3c.-49+27105G>T (n.-49+27105G>T)
c.260G>T (p.Arg87Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.42693692C=CA2406870434A4GALT,CYB5R3c.-49+27105G= (n.-49+27105G=)
c.260G= (p.Arg87=)
22g.42693692C>GCA411812704A4GALT,CYB5R3c.-49+27105G>C (n.-49+27105G>C)
c.260G>C (p.Arg87Pro)
22g.42693692C>TCA10270349A4GALT,CYB5R3c.-49+27105G>A (n.-49+27105G>A)
c.260G>A (p.Arg87Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.42693693G>ACA10270351A4GALT,CYB5R3c.-49+27104C>T (n.-49+27104C>T)
c.259C>T (p.Arg87Trp)
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.42693693G>CCA411812705A4GALT,CYB5R3c.-49+27104C>G (n.-49+27104C>G)
c.259C>G (p.Arg87Gly)
 dbSNP gnomAD v2 gnomAD v4
22g.42693693G=CA2406870435A4GALT,CYB5R3c.-49+27104C= (n.-49+27104C=)
c.259C= (p.Arg87=)
22g.42693693G>TCA515071723A4GALT,CYB5R3c.-49+27104C>A (n.-49+27104C>A)
c.259C>A (p.Arg87=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.42693694G>ACA10270352A4GALT,CYB5R3c.-49+27103C>T (n.-49+27103C>T)
c.258C>T (p.Asp86=)
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.42693694G>CCA411812706A4GALT,CYB5R3c.-49+27103C>G (n.-49+27103C>G)
c.258C>G (p.Asp86Glu)
22g.42693694G=CA2406870436A4GALT,CYB5R3c.-49+27103C= (n.-49+27103C=)
c.258C= (p.Asp86=)
22g.42693694G>TCA411812707A4GALT,CYB5R3c.-49+27103C>A (n.-49+27103C>A)
c.258C>A (p.Asp86Glu)
22g.42693698_42693704dupCA2657079027A4GALT,CYB5R3c.-49+27097_-49+27103dup (n.-49+27097_-49+27103dup)
c.252_258dup (p.Arg87PhefsTer?)
 gnomAD v4
22g.42693695T>ACA411812708A4GALT,CYB5R3c.-49+27102A>T (n.-49+27102A>T)
c.257A>T (p.Asp86Val)
22g.42693695T>CCA411812709A4GALT,CYB5R3c.-49+27102A>G (n.-49+27102A>G)
c.257A>G (p.Asp86Gly)
 dbSNP
22g.42693695T>GCA411812710A4GALT,CYB5R3c.-49+27102A>C (n.-49+27102A>C)
c.257A>C (p.Asp86Ala)
22g.42693695T=CA2406870437A4GALT,CYB5R3c.-49+27102A= (n.-49+27102A=)
c.257A= (p.Asp86=)
22g.42693696C>ACA411812711A4GALT,CYB5R3c.-49+27101G>T (n.-49+27101G>T)
c.256G>T (p.Asp86Tyr)
 gnomAD v4
22g.42693696C>GCA411812712A4GALT,CYB5R3c.-49+27101G>C (n.-49+27101G>C)
c.256G>C (p.Asp86His)
22g.42693696C>TCA411812713A4GALT,CYB5R3c.-49+27101G>A (n.-49+27101G>A)
c.256G>A (p.Asp86Asn)
22g.42693697T>ACA515071740A4GALT,CYB5R3c.-49+27100A>T (n.-49+27100A>T)
c.255A>T (p.Ser85=)
22g.42693697T>CCA515071742A4GALT,CYB5R3c.-49+27100A>G (n.-49+27100A>G)
c.255A>G (p.Ser85=)
22g.42693697T>GCA515071743A4GALT,CYB5R3c.-49+27100A>C (n.-49+27100A>C)
c.255A>C (p.Ser85=)
22g.42693698G>ACA10270353A4GALT,CYB5R3c.-49+27099C>T (n.-49+27099C>T)
c.254C>T (p.Ser85Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
22g.42693698G>CCA411812714A4GALT,CYB5R3c.-49+27099C>G (n.-49+27099C>G)
c.254C>G (p.Ser85Ter)
22g.42693698G=CA2406870438A4GALT,CYB5R3c.-49+27099C= (n.-49+27099C=)
c.254C= (p.Ser85=)
22g.42693698G>TCA411812715A4GALT,CYB5R3c.-49+27099C>A (n.-49+27099C>A)
c.254C>A (p.Ser85Ter)
 gnomAD v4
22g.42693699A=CA2406870439A4GALT,CYB5R3c.-49+27098T= (n.-49+27098T=)
c.253T= (p.Ser85=)
22g.42693699A>CCA411812717A4GALT,CYB5R3c.-49+27098T>G (n.-49+27098T>G)
c.253T>G (p.Ser85Ala)
22g.42693699A>GCA411812716A4GALT,CYB5R3c.-49+27098T>C (n.-49+27098T>C)
c.253T>C (p.Ser85Pro)
22g.42693699A>TCA324732471A4GALT,CYB5R3c.-49+27098T>A (n.-49+27098T>A)
c.253T>A (p.Ser85Thr)
 dbSNP gnomAD v4
22g.42693699_42693707delCA2657079034A4GALT,CYB5R3c.-49+27090_-49+27098del (n.-49+27090_-49+27098del)
c.245_253del (p.Leu82_Ser85delinsPro)
 gnomAD v4
22g.42693700A>CCA515071753A4GALT,CYB5R3c.-49+27097T>G (n.-49+27097T>G)
c.252T>G (p.Thr84=)
22g.42693700A>GCA515071757A4GALT,CYB5R3c.-49+27097T>C (n.-49+27097T>C)
c.252T>C (p.Thr84=)
22g.42693700A>TCA515071755A4GALT,CYB5R3c.-49+27097T>A (n.-49+27097T>A)
c.252T>A (p.Thr84=)
22g.42693701G>ACA411812718A4GALT,CYB5R3c.-49+27096C>T (n.-49+27096C>T)
c.251C>T (p.Thr84Ile)
22g.42693701G>CCA411812719A4GALT,CYB5R3c.-49+27096C>G (n.-49+27096C>G)
c.251C>G (p.Thr84Ser)
 dbSNP
22g.42693701G=CA2406870440A4GALT,CYB5R3c.-49+27096C= (n.-49+27096C=)
c.251C= (p.Thr84=)
22g.42693701G>TCA411812720A4GALT,CYB5R3c.-49+27096C>A (n.-49+27096C>A)
c.251C>A (p.Thr84Asn)
22g.42693702T>ACA411812721A4GALT,CYB5R3c.-49+27095A>T (n.-49+27095A>T)
c.250A>T (p.Thr84Ser)
22g.42693702T>CCA411812722A4GALT,CYB5R3c.-49+27095A>G (n.-49+27095A>G)
c.250A>G (p.Thr84Ala)
22g.42693702T>GCA411812723A4GALT,CYB5R3c.-49+27095A>C (n.-49+27095A>C)
c.250A>C (p.Thr84Pro)
22g.42693702_42693707delCA2657079036A4GALT,CYB5R3c.-49+27090_-49+27095del (n.-49+27090_-49+27095del)
c.245_250del (p.Leu82_Thr84delinsPro)
 gnomAD v4
22g.42693703C>ACA411812724A4GALT,CYB5R3c.-49+27094G>T (n.-49+27094G>T)
c.249G>T (p.Glu83Asp)
22g.42693703C=CA2406870441A4GALT,CYB5R3c.-49+27094G= (n.-49+27094G=)
c.249G= (p.Glu83=)
22g.42693703C>GCA411812725A4GALT,CYB5R3c.-49+27094G>C (n.-49+27094G>C)
c.249G>C (p.Glu83Asp)
22g.42693703C>TCA10270354A4GALT,CYB5R3c.-49+27094G>A (n.-49+27094G>A)
c.249G>A (p.Glu83=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.42693704T>ACA411812726A4GALT,CYB5R3c.-49+27093A>T (n.-49+27093A>T)
c.248A>T (p.Glu83Val)
22g.42693704T>CCA411812727A4GALT,CYB5R3c.-49+27093A>G (n.-49+27093A>G)
c.248A>G (p.Glu83Gly)
22g.42693704T>GCA411812728A4GALT,CYB5R3c.-49+27093A>C (n.-49+27093A>C)
c.248A>C (p.Glu83Ala)
22g.42693705C>ACA411812730A4GALT,CYB5R3c.-49+27092G>T (n.-49+27092G>T)
c.247G>T (p.Glu83Ter)
22g.42693705C=CA2406870442A4GALT,CYB5R3c.-49+27092G= (n.-49+27092G=)
c.247G= (p.Glu83=)
22g.42693705C>GCA10270355A4GALT,CYB5R3c.-49+27092G>C (n.-49+27092G>C)
c.247G>C (p.Glu83Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.42693705C>TCA411812729A4GALT,CYB5R3c.-49+27092G>A (n.-49+27092G>A)
c.247G>A (p.Glu83Lys)
22g.42693705_42693706delCA2558424172A4GALT,CYB5R3c.-49+27091_-49+27092del (n.-49+27091_-49+27092del)
c.246_247del (p.Glu83AspfsTer?)
22g.42693706C>ACA515071772A4GALT,CYB5R3c.-49+27091G>T (n.-49+27091G>T)
c.246G>T (p.Leu82=)
22g.42693706C>GCA515071773A4GALT,CYB5R3c.-49+27091G>C (n.-49+27091G>C)
c.246G>C (p.Leu82=)
22g.42693706C>TCA515071774A4GALT,CYB5R3c.-49+27091G>A (n.-49+27091G>A)
c.246G>A (p.Leu82=)
 gnomAD v4
22g.42693707A=CA2406870443A4GALT,CYB5R3c.-49+27090T= (n.-49+27090T=)
c.245T= (p.Leu82=)
22g.42693707A>CCA411812731A4GALT,CYB5R3c.-49+27090T>G (n.-49+27090T>G)
c.245T>G (p.Leu82Arg)
22g.42693707A>GCA411812732A4GALT,CYB5R3c.-49+27090T>C (n.-49+27090T>C)
c.245T>C (p.Leu82Pro)
 gnomAD v4
22g.42693707A>TCA411812733A4GALT,CYB5R3c.-49+27090T>A (n.-49+27090T>A)
c.245T>A (p.Leu82Gln)
 dbSNP gnomAD v3 gnomAD v4
22g.42693708G>ACA515071780A4GALT,CYB5R3c.-49+27089C>T (n.-49+27089C>T)
c.244C>T (p.Leu82=)
 dbSNP gnomAD v4
22g.42693708G>CCA411812734A4GALT,CYB5R3c.-49+27089C>G (n.-49+27089C>G)
c.244C>G (p.Leu82Val)
22g.42693708G=CA2406870445A4GALT,CYB5R3c.-49+27089C= (n.-49+27089C=)
c.244C= (p.Leu82=)
22g.42693708G>TCA411812735A4GALT,CYB5R3c.-49+27089C>A (n.-49+27089C>A)
c.244C>A (p.Leu82Met)
22g.42693708_42693711delinsGGAACA2406870444A4GALT,CYB5R3c.-49+27086_-49+27089delinsTTCC (n.-49+27086_-49+27089delinsTTCC)
c.241_244delinsTTCC (p.Phe81=)
22g.42693709G>ACA515071791A4GALT,CYB5R3c.-49+27088C>T (n.-49+27088C>T)
c.243C>T (p.Phe81=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
22g.42693709G>CCA411812736A4GALT,CYB5R3c.-49+27088C>G (n.-49+27088C>G)
c.243C>G (p.Phe81Leu)
 gnomAD v4
22g.42693709G=CA2406870446A4GALT,CYB5R3c.-49+27088C= (n.-49+27088C=)
c.243C= (p.Phe81=)
22g.42693709G>TCA10270356A4GALT,CYB5R3c.-49+27088C>A (n.-49+27088C>A)
c.243C>A (p.Phe81Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.42693714_42693716delCA115691A4GALT,CYB5R3c.-49+27086_-49+27088del (n.-49+27086_-49+27088del)
c.241_243del (p.Phe81del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.42693710A>CCA411812737A4GALT,CYB5R3c.-49+27087T>G (n.-49+27087T>G)
c.242T>G (p.Phe81Cys)
22g.42693710A>GCA411812738A4GALT,CYB5R3c.-49+27087T>C (n.-49+27087T>C)
c.242T>C (p.Phe81Ser)
 gnomAD v4
22g.42693710A>TCA411812739A4GALT,CYB5R3c.-49+27087T>A (n.-49+27087T>A)
c.242T>A (p.Phe81Tyr)
22g.42693710_42693711delCA2657079067A4GALT,CYB5R3c.-49+27086_-49+27087del (n.-49+27086_-49+27087del)
c.241_242del (p.Phe81ProfsTer?)
 gnomAD v4
22g.42693710_42693714delCA2657079065A4GALT,CYB5R3c.-49+27083_-49+27087del (n.-49+27083_-49+27087del)
c.238_242del (p.Phe80ProfsTer?)
 gnomAD v4
22g.42693710_42693716delCA2657079064A4GALT,CYB5R3c.-49+27081_-49+27087del (n.-49+27081_-49+27087del)
c.236_242del (p.Ile79ThrfsTer?)
 gnomAD v4
22g.42693710_42693717delCA2657079061A4GALT,CYB5R3c.-49+27080_-49+27087del (n.-49+27080_-49+27087del)
c.235_242del (p.Ile79ProfsTer?)
 gnomAD v4
22g.42693710_42693720delCA2657079069A4GALT,CYB5R3c.-49+27077_-49+27087del (n.-49+27077_-49+27087del)
c.232_242del (p.Asn78ProfsTer?)
 gnomAD v4
22g.42693710_42693723delCA2657079060A4GALT,CYB5R3c.-49+27074_-49+27087del (n.-49+27074_-49+27087del)
c.229_242del (p.Gly77ProfsTer?)
 gnomAD v4
22g.42693710_42693724delCA2657079059A4GALT,CYB5R3c.-49+27073_-49+27087del (n.-49+27073_-49+27087del)
c.228_242del (p.Gly77_Phe81del)
 gnomAD v4
22g.42693710_42693729delCA2502675889A4GALT,CYB5R3c.-49+27068_-49+27087del (n.-49+27068_-49+27087del)
c.223_242del (p.Thr75ProfsTer?)
 gnomAD v4
22g.42693711A=CA2406870447A4GALT,CYB5R3c.-49+27086T= (n.-49+27086T=)
c.241T= (p.Phe81=)
22g.42693711A>CCA411812742A4GALT,CYB5R3c.-49+27086T>G (n.-49+27086T>G)
c.241T>G (p.Phe81Val)
22g.42693711A>GCA411812741A4GALT,CYB5R3c.-49+27086T>C (n.-49+27086T>C)
c.241T>C (p.Phe81Leu)
 dbSNP gnomAD v4
22g.42693711A>TCA411812740A4GALT,CYB5R3c.-49+27086T>A (n.-49+27086T>A)
c.241T>A (p.Phe81Ile)
22g.42693712G>ACA515071800A4GALT,CYB5R3c.-49+27085C>T (n.-49+27085C>T)
c.240C>T (p.Phe80=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.42693712G>CCA411812743A4GALT,CYB5R3c.-49+27085C>G (n.-49+27085C>G)
c.240C>G (p.Phe80Leu)
22g.42693712G=CA2406870448A4GALT,CYB5R3c.-49+27085C= (n.-49+27085C=)
c.240C= (p.Phe80=)
22g.42693712G>TCA411812744A4GALT,CYB5R3c.-49+27085C>A (n.-49+27085C>A)
c.240C>A (p.Phe80Leu)
 gnomAD v4
22g.42693712dupCA2657079073A4GALT,CYB5R3c.-49+27085dup (n.-49+27085dup)
c.240dup (p.Phe81LeufsTer?)
 gnomAD v4
22g.42693713A>CCA411812745A4GALT,CYB5R3c.-49+27084T>G (n.-49+27084T>G)
c.239T>G (p.Phe80Cys)
22g.42693713A>GCA411812746A4GALT,CYB5R3c.-49+27084T>C (n.-49+27084T>C)
c.239T>C (p.Phe80Ser)
 gnomAD v4
22g.42693713A>TCA411812747A4GALT,CYB5R3c.-49+27084T>A (n.-49+27084T>A)
c.239T>A (p.Phe80Tyr)
22g.42693713_42693724delCA2657079078A4GALT,CYB5R3c.-49+27073_-49+27084del (n.-49+27073_-49+27084del)
c.228_239del (p.Gly77_Phe80del)
 gnomAD v4
22g.42693714A=CA2406870449A4GALT,CYB5R3c.-49+27083T= (n.-49+27083T=)
c.238T= (p.Phe80=)
22g.42693714A>CCA411812748A4GALT,CYB5R3c.-49+27083T>G (n.-49+27083T>G)
c.238T>G (p.Phe80Val)
22g.42693714A>GCA411812749A4GALT,CYB5R3c.-49+27083T>C (n.-49+27083T>C)
c.238T>C (p.Phe80Leu)
 gnomAD v4
22g.42693714A>TCA10270357A4GALT,CYB5R3c.-49+27083T>A (n.-49+27083T>A)
c.238T>A (p.Phe80Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.42693715G>ACA515071812A4GALT,CYB5R3c.-49+27082C>T (n.-49+27082C>T)
c.237C>T (p.Ile79=)
22g.42693715G>CCA411812750A4GALT,CYB5R3c.-49+27082C>G (n.-49+27082C>G)
c.237C>G (p.Ile79Met)
22g.42693715G>TCA515071815A4GALT,CYB5R3c.-49+27082C>A (n.-49+27082C>A)
c.237C>A (p.Ile79=)
22g.42693716A>CCA411812751A4GALT,CYB5R3c.-49+27081T>G (n.-49+27081T>G)
c.236T>G (p.Ile79Ser)
22g.42693716A>GCA411812752A4GALT,CYB5R3c.-49+27081T>C (n.-49+27081T>C)
c.236T>C (p.Ile79Thr)
 gnomAD v4
22g.42693716A>TCA411812753A4GALT,CYB5R3c.-49+27081T>A (n.-49+27081T>A)
c.236T>A (p.Ile79Asn)
22g.42693717T>ACA411812754A4GALT,CYB5R3c.-49+27080A>T (n.-49+27080A>T)
c.235A>T (p.Ile79Phe)
 gnomAD v4
22g.42693717T>CCA10270358A4GALT,CYB5R3c.-49+27080A>G (n.-49+27080A>G)
c.235A>G (p.Ile79Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.42693717T>GCA411812755A4GALT,CYB5R3c.-49+27080A>C (n.-49+27080A>C)
c.235A>C (p.Ile79Leu)
 gnomAD v3 gnomAD v4
22g.42693717T=CA2406870450A4GALT,CYB5R3c.-49+27080A= (n.-49+27080A=)
c.235A= (p.Ile79=)
22g.42693718G>ACA515071823A4GALT,CYB5R3c.-49+27079C>T (n.-49+27079C>T)
c.234C>T (p.Asn78=)
22g.42693718G>CCA411812756A4GALT,CYB5R3c.-49+27079C>G (n.-49+27079C>G)
c.234C>G (p.Asn78Lys)
22g.42693718G>TCA411812757A4GALT,CYB5R3c.-49+27079C>A (n.-49+27079C>A)
c.234C>A (p.Asn78Lys)
 gnomAD v4
22g.42693719T>ACA411812758A4GALT,CYB5R3c.-49+27078A>T (n.-49+27078A>T)
c.233A>T (p.Asn78Ile)
22g.42693719T>CCA411812759A4GALT,CYB5R3c.-49+27078A>G (n.-49+27078A>G)
c.233A>G (p.Asn78Ser)
22g.42693719T>GCA411812760A4GALT,CYB5R3c.-49+27078A>C (n.-49+27078A>C)
c.233A>C (p.Asn78Thr)
 gnomAD v4
22g.42693719_42693724delCA2657079081A4GALT,CYB5R3c.-49+27073_-49+27078del (n.-49+27073_-49+27078del)
c.228_233del (p.Gly77_Asn78del)
 gnomAD v4
22g.42693720_42693724delCA2657079082A4GALT,CYB5R3c.-49+27074_-49+27078del (n.-49+27074_-49+27078del)
c.229_233del (p.Gly77HisfsTer?)
 gnomAD v4
22g.42693719_42693720insGGGGGGGCA2657079084A4GALT,CYB5R3c.-49+27077_-49+27078insCCCCCCC (n.-49+27077_-49+27078insCCCCCCC)
c.232_233insCCCCCCC (p.Asn78ThrfsTer?)
 gnomAD v4
22g.42693720T>ACA411812761A4GALT,CYB5R3c.-49+27077A>T (n.-49+27077A>T)
c.232A>T (p.Asn78Tyr)
22g.42693720T>CCA411812762A4GALT,CYB5R3c.-49+27077A>G (n.-49+27077A>G)
c.232A>G (p.Asn78Asp)
22g.42693720T>GCA411812763A4GALT,CYB5R3c.-49+27077A>C (n.-49+27077A>C)
c.232A>C (p.Asn78His)
 gnomAD v3 gnomAD v4
22g.42693721G>ACA515071833A4GALT,CYB5R3c.-49+27076C>T (n.-49+27076C>T)
c.231C>T (p.Gly77=)
 gnomAD v4
22g.42693721G>CCA515071835A4GALT,CYB5R3c.-49+27076C>G (n.-49+27076C>G)
c.231C>G (p.Gly77=)
22g.42693721G>TCA515071837A4GALT,CYB5R3c.-49+27076C>A (n.-49+27076C>A)
c.231C>A (p.Gly77=)
 gnomAD v4
22g.42693721_42693723delCA2657079085A4GALT,CYB5R3c.-49+27074_-49+27076del (n.-49+27074_-49+27076del)
c.229_231del (p.Gly77del)
 gnomAD v4
22g.42693721_42693745delinsGCCTGGAGTGGGGCCGTGGGAGGGTCA2406870451A4GALT,CYB5R3c.-49+27052_-49+27076delinsACCCTCCCACGGCCCCACTCCAGGC (n.-49+27052_-49+27076delinsACCCTCCCACGGCCCCACTCCAGGC)
c.207_231delinsACCCTCCCACGGCCCCACTCCAGGC (p.Pro69=)
22g.42693722C>ACA411812764A4GALT,CYB5R3c.-49+27075G>T (n.-49+27075G>T)
c.230G>T (p.Gly77Val)
22g.42693722C=CA2406870452A4GALT,CYB5R3c.-49+27075G= (n.-49+27075G=)
c.230G= (p.Gly77=)
22g.42693722C>GCA411812765A4GALT,CYB5R3c.-49+27075G>C (n.-49+27075G>C)
c.230G>C (p.Gly77Ala)
 dbSNP gnomAD v2 gnomAD v4
22g.42693722C>TCA411812766A4GALT,CYB5R3c.-49+27075G>A (n.-49+27075G>A)
c.230G>A (p.Gly77Asp)
22g.42693722_42693723delCA2657079086A4GALT,CYB5R3c.-49+27074_-49+27075del (n.-49+27074_-49+27075del)
c.229_230del (p.Gly77GlnfsTer?)
 gnomAD v4
22g.42693722_42693724delCA2657079087A4GALT,CYB5R3c.-49+27073_-49+27075del (n.-49+27073_-49+27075del)
c.228_230del (p.Gly77del)
 gnomAD v4
22g.42693722_42693745delCA639829281A4GALT,CYB5R3c.-49+27052_-49+27075del (n.-49+27052_-49+27075del)
c.207_230del (p.Pro70_Gly77del)
 dbSNP gnomAD v2
22g.42693723C>ACA411812767A4GALT,CYB5R3c.-49+27074G>T (n.-49+27074G>T)
c.229G>T (p.Gly77Cys)
 gnomAD v4
22g.42693723C=CA2406870453A4GALT,CYB5R3c.-49+27074G= (n.-49+27074G=)
c.229G= (p.Gly77=)
22g.42693723C>GCA411812768A4GALT,CYB5R3c.-49+27074G>C (n.-49+27074G>C)
c.229G>C (p.Gly77Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.42693723C>TCA411812769A4GALT,CYB5R3c.-49+27074G>A (n.-49+27074G>A)
c.229G>A (p.Gly77Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.42693723_42693729delCA2543844221A4GALT,CYB5R3c.-49+27068_-49+27074del (n.-49+27068_-49+27074del)
c.223_229del (p.Thr75AlafsTer?)
 gnomAD v4
22g.42693724delCA2819076076A4GALT,CYB5R3c.-49+27073del (n.-49+27073del)
c.228del (p.Gly77AlafsTer?)
22g.42693724T>ACA515071851A4GALT,CYB5R3c.-49+27073A>T (n.-49+27073A>T)
c.228A>T (p.Pro76=)
22g.42693724T>CCA10270359A4GALT,CYB5R3c.-49+27073A>G (n.-49+27073A>G)
c.228A>G (p.Pro76=)
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.42693724T>GCA515071856A4GALT,CYB5R3c.-49+27073A>C (n.-49+27073A>C)
c.228A>C (p.Pro76=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.42693724T=CA2406870454A4GALT,CYB5R3c.-49+27073A= (n.-49+27073A=)
c.228A= (p.Pro76=)
22g.42693724dupCA2657079091A4GALT,CYB5R3c.-49+27073dup (n.-49+27073dup)
c.228dup (p.Gly77ArgfsTer?)
 gnomAD v4
22g.42693724_42693729delCA1025982035A4GALT,CYB5R3c.-49+27068_-49+27073del (n.-49+27068_-49+27073del)
c.223_228del (p.Thr75_Pro76del)
 gnomAD v3 gnomAD v4
22g.42693724_42693725insTCCGGCA2657079094A4GALT,CYB5R3c.-49+27072_-49+27073insCCGGA (n.-49+27072_-49+27073insCCGGA)
c.227_228insCCGGA (p.Gly77ArgfsTer?)
 gnomAD v4
22g.42693724_42693725insTGGGGGGGGGGCA2657079096A4GALT,CYB5R3c.-49+27072_-49+27073insCCCCCCCCCCA (n.-49+27072_-49+27073insCCCCCCCCCCA)
c.227_228insCCCCCCCCCCA (p.Gly77ProfsTer?)
 gnomAD v4
22g.42693724_42693725insTTCTTGGGGGGGCA2657079097A4GALT,CYB5R3c.-49+27072_-49+27073insCCCCCCCAAGAA (n.-49+27072_-49+27073insCCCCCCCAAGAA)
c.227_228insCCCCCCCAAGAA (p.Pro76_Gly77insProProLysLys)
 gnomAD v4
22g.42693724_42693725insTTGTGGGGGGGGCA2819076080A4GALT,CYB5R3c.-49+27072_-49+27073insCCCCCCCCACAA (n.-49+27072_-49+27073insCCCCCCCCACAA)
c.227_228insCCCCCCCCACAA (p.Pro76_Gly77insProProHisLys)
22g.42693724_42693725insTTTGGGGGGGGGCA2657079099A4GALT,CYB5R3c.-49+27072_-49+27073insCCCCCCCCCAAA (n.-49+27072_-49+27073insCCCCCCCCCAAA)
c.227_228insCCCCCCCCCAAA (p.Pro76_Gly77insProProProLys)
 gnomAD v4
22g.42693724_42693725insCTTTGGGGGGGGGCA2657079092A4GALT,CYB5R3c.-49+27072_-49+27073insCCCCCCCCCAAAG (n.-49+27072_-49+27073insCCCCCCCCCAAAG)
c.227_228insCCCCCCCCCAAAG (p.Gly77ProfsTer?)
 gnomAD v4
22g.42693724_42693725insTTTTTATTTTTTGGTGGGGGGGCA2657079100A4GALT,CYB5R3c.-49+27072_-49+27073insCCCCCCCACCAAAAAATAAAAA (n.-49+27072_-49+27073insCCCCCCCACCAAAAAATAAAAA)
c.227_228insCCCCCCCACCAAAAAATAAAAA (p.Gly77ProfsTer6)
 gnomAD v4
22g.42693724_42693725insCTTTATTTTTTGGGGGGGGGGGCA2819076079A4GALT,CYB5R3c.-49+27072_-49+27073insCCCCCCCCCCCAAAAAATAAAG (n.-49+27072_-49+27073insCCCCCCCCCCCAAAAAATAAAG)
c.227_228insCCCCCCCCCCCAAAAAATAAAG (p.Gly77ProfsTer?)
22g.42693725G>ACA411812770A4GALT,CYB5R3c.-49+27072C>T (n.-49+27072C>T)
c.227C>T (p.Pro76Leu)
22g.42693725G>CCA411812772A4GALT,CYB5R3c.-49+27072C>G (n.-49+27072C>G)
c.227C>G (p.Pro76Arg)
22g.42693725G>TCA411812771A4GALT,CYB5R3c.-49+27072C>A (n.-49+27072C>A)
c.227C>A (p.Pro76Gln)
22g.42693725_42693726insTGGGGGGGGGCA2657079093A4GALT,CYB5R3c.-49+27072_-49+27073insCCCCCCCCAC (n.-49+27072_-49+27073insCCCCCCCCAC)
c.227_228insCCCCCCCCAC (p.Gly77ProfsTer?)
 gnomAD v4
22g.42693726dupCA639829282A4GALT,CYB5R3c.-49+27072dup (n.-49+27072dup)
c.227dup (p.Gly77ArgfsTer?)
 gnomAD v2 gnomAD v4
22g.42693726G>ACA411812773A4GALT,CYB5R3c.-49+27071C>T (n.-49+27071C>T)
c.226C>T (p.Pro76Ser)
 gnomAD v4
22g.42693726G>CCA411812774A4GALT,CYB5R3c.-49+27071C>G (n.-49+27071C>G)
c.226C>G (p.Pro76Ala)
 gnomAD v4
22g.42693726G>TCA411812775A4GALT,CYB5R3c.-49+27071C>A (n.-49+27071C>A)
c.226C>A (p.Pro76Thr)
22g.42693727_42693728delCA2819076081A4GALT,CYB5R3c.-49+27070_-49+27071del (n.-49+27070_-49+27071del)
c.225_226del (p.Pro76ArgfsTer?)
22g.42693727delCA2657079101A4GALT,CYB5R3c.-49+27070del (n.-49+27070del)
c.225del (p.Pro76GlnfsTer?)
 gnomAD v4
22g.42693727A=CA2406870455A4GALT,CYB5R3c.-49+27070T= (n.-49+27070T=)
c.225T= (p.Thr75=)
22g.42693727A>CCA515071866A4GALT,CYB5R3c.-49+27070T>G (n.-49+27070T>G)
c.225T>G (p.Thr75=)
22g.42693727A>GCA515071868A4GALT,CYB5R3c.-49+27070T>C (n.-49+27070T>C)
c.225T>C (p.Thr75=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.42693727A>TCA515071870A4GALT,CYB5R3c.-49+27070T>A (n.-49+27070T>A)
c.225T>A (p.Thr75=)
 gnomAD v4
22g.42693727_42693729delCA1025982036A4GALT,CYB5R3c.-49+27068_-49+27070del (n.-49+27068_-49+27070del)
c.223_225del (p.Thr75del)
 gnomAD v3 gnomAD v4
22g.42693727_42693728insCCA2524035805A4GALT,CYB5R3c.-49+27069_-49+27070insG (n.-49+27069_-49+27070insG)
c.224_225insG (p.Pro76SerfsTer?)
22g.42693728G>ACA411812776A4GALT,CYB5R3c.-49+27069C>T (n.-49+27069C>T)
c.224C>T (p.Thr75Ile)
22g.42693728G>CCA411812777A4GALT,CYB5R3c.-49+27069C>G (n.-49+27069C>G)
c.224C>G (p.Thr75Ser)
22g.42693728G>TCA411812778A4GALT,CYB5R3c.-49+27069C>A (n.-49+27069C>A)
c.224C>A (p.Thr75Asn)
22g.42693728_42693729insGGGGGGGCA2819076082A4GALT,CYB5R3c.-49+27069_-49+27070insCCCCCCC (n.-49+27069_-49+27070insCCCCCCC)
c.224_225insCCCCCCC (p.Gly77ProfsTer?)
22g.42693728dupCA2522401210A4GALT,CYB5R3c.-49+27069dup (n.-49+27069dup)
c.224dup (p.Pro76SerfsTer?)
22g.42693729delCA1025982037A4GALT,CYB5R3c.-49+27068del (n.-49+27068del)
c.223del (p.Thr75LeufsTer?)
 gnomAD v3 gnomAD v4
22g.42693729T>ACA411812779A4GALT,CYB5R3c.-49+27068A>T (n.-49+27068A>T)
c.223A>T (p.Thr75Ser)
 gnomAD v3 gnomAD v4
22g.42693729T>CCA411812780A4GALT,CYB5R3c.-49+27068A>G (n.-49+27068A>G)
c.223A>G (p.Thr75Ala)
 dbSNP gnomAD v4
22g.42693729T>GCA411812781A4GALT,CYB5R3c.-49+27068A>C (n.-49+27068A>C)
c.223A>C (p.Thr75Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.42693729T=CA2406870456A4GALT,CYB5R3c.-49+27068A= (n.-49+27068A=)
c.223A= (p.Thr75=)
22g.42693729_42693730insTGGGGCA2657079104A4GALT,CYB5R3c.-49+27067_-49+27068insCCCCA (n.-49+27067_-49+27068insCCCCA)
c.222_223insCCCCA (p.Thr75ProfsTer?)
 gnomAD v4
22g.42693729_42693730insTTGGGGGGGGGGGGGGGCA2657079106A4GALT,CYB5R3c.-49+27067_-49+27068insCCCCCCCCCCCCCCCAA (n.-49+27067_-49+27068insCCCCCCCCCCCCCCCAA)
c.222_223insCCCCCCCCCCCCCCCAA (p.Thr75ProfsTer?)
 gnomAD v4
22g.42693729_42693730insTGGGGGGGGGGGGGGGGCA2657079105A4GALT,CYB5R3c.-49+27067_-49+27068insCCCCCCCCCCCCCCCCA (n.-49+27067_-49+27068insCCCCCCCCCCCCCCCCA)
c.222_223insCCCCCCCCCCCCCCCCA (p.Thr75ProfsTer?)
 gnomAD v4
22g.42693730G>ACA515071878A4GALT,CYB5R3c.-49+27067C>T (n.-49+27067C>T)
c.222C>T (p.Pro74=)
22g.42693730G>CCA515071879A4GALT,CYB5R3c.-49+27067C>G (n.-49+27067C>G)
c.222C>G (p.Pro74=)
 dbSNP gnomAD v4
22g.42693730G>TCA515071882A4GALT,CYB5R3c.-49+27067C>A (n.-49+27067C>A)
c.222C>A (p.Pro74=)
22g.42693732_42693733insTGGGGGGGCA2819076085A4GALT,CYB5R3c.-49+27067_-49+27068insCCCCACCC (n.-49+27067_-49+27068insCCCCACCC)
c.222_223insCCCCACCC (p.Thr75ProfsTer?)
22g.42693731G>ACA411812782A4GALT,CYB5R3c.-49+27066C>T (n.-49+27066C>T)
c.221C>T (p.Pro74Leu)
 dbSNP gnomAD v2 gnomAD v4
22g.42693731G>CCA411812783A4GALT,CYB5R3c.-49+27066C>G (n.-49+27066C>G)
c.221C>G (p.Pro74Arg)
 dbSNP
22g.42693731G=CA2406870457A4GALT,CYB5R3c.-49+27066C= (n.-49+27066C=)
c.221C= (p.Pro74=)
22g.42693731G>TCA411812784A4GALT,CYB5R3c.-49+27066C>A (n.-49+27066C>A)
c.221C>A (p.Pro74His)
 ClinVar
22g.42693732G>ACA411812787A4GALT,CYB5R3c.-49+27065C>T (n.-49+27065C>T)
c.220C>T (p.Pro74Ser)
 gnomAD v4
22g.42693732G>CCA411812786A4GALT,CYB5R3c.-49+27065C>G (n.-49+27065C>G)
c.220C>G (p.Pro74Ala)
22g.42693732G>TCA411812785A4GALT,CYB5R3c.-49+27065C>A (n.-49+27065C>A)
c.220C>A (p.Pro74Thr)
 gnomAD v4
22g.42693732_42693745delinsGGCCGTGGGAGGGTCA2406870458A4GALT,CYB5R3c.-49+27052_-49+27065delinsACCCTCCCACGGCC (n.-49+27052_-49+27065delinsACCCTCCCACGGCC)
c.207_220delinsACCCTCCCACGGCC (p.Pro69=)
22g.42693732_42693733insATCA2568083422A4GALT,CYB5R3c.-49+27064_-49+27065insAT (n.-49+27064_-49+27065insAT)
c.219_220insAT (p.Pro74IlefsTer?)
22g.42693733G>ACA515071892A4GALT,CYB5R3c.-49+27064C>T (n.-49+27064C>T)
c.219C>T (p.Gly73=)
 gnomAD v4
22g.42693733G>CCA515071896A4GALT,CYB5R3c.-49+27064C>G (n.-49+27064C>G)
c.219C>G (p.Gly73=)
 gnomAD v4
22g.42693733G>TCA515071901A4GALT,CYB5R3c.-49+27064C>A (n.-49+27064C>A)
c.219C>A (p.Gly73=)
22g.42693733_42693734delinsGCCA2406870460A4GALT,CYB5R3c.-49+27063_-49+27064delinsGC (n.-49+27063_-49+27064delinsGC)
c.218_219delinsGC (p.Gly73=)
22g.42693734_42693736delCA2819076086A4GALT,CYB5R3c.-49+27062_-49+27064del (n.-49+27062_-49+27064del)
c.217_219del (p.Gly73del)
22g.42693733_42693745delinsGCCGTGGGAGGGTCA2406870459A4GALT,CYB5R3c.-49+27052_-49+27064delinsACCCTCCCACGGC (n.-49+27052_-49+27064delinsACCCTCCCACGGC)
c.207_219delinsACCCTCCCACGGC (p.Pro69=)
22g.42693734_42693746delCA639829283A4GALT,CYB5R3c.-49+27052_-49+27064del (n.-49+27052_-49+27064del)
c.207_219del (p.Ser71LeufsTer?)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.42693734C>ACA411812788A4GALT,CYB5R3c.-49+27063G>T (n.-49+27063G>T)
c.218G>T (p.Gly73Val)
 gnomAD v3 gnomAD v4
22g.42693734C>GCA411812789A4GALT,CYB5R3c.-49+27063G>C (n.-49+27063G>C)
c.218G>C (p.Gly73Ala)
 gnomAD v4
22g.42693734C>TCA411812790A4GALT,CYB5R3c.-49+27063G>A (n.-49+27063G>A)
c.218G>A (p.Gly73Asp)
 gnomAD v4
22g.42693734_42693735delCA1025982038A4GALT,CYB5R3c.-49+27062_-49+27063del (n.-49+27062_-49+27063del)
c.217_218del (p.Gly73ProfsTer?)
 gnomAD v3 gnomAD v4
22g.42693735delCA639829286A4GALT,CYB5R3c.-49+27063del (n.-49+27063del)
c.218del (p.Gly73AlafsTer?)
 dbSNP gnomAD v2 gnomAD v4
22g.42693734_42693737delCA639829287A4GALT,CYB5R3c.-49+27060_-49+27063del (n.-49+27060_-49+27063del)
c.215_218del (p.His72ProfsTer?)
 gnomAD v2 gnomAD v3 gnomAD v4
22g.42693734_42693741delCA1025982039A4GALT,CYB5R3c.-49+27056_-49+27063del (n.-49+27056_-49+27063del)
c.211_218del (p.Ser71ProfsTer?)
 gnomAD v3 gnomAD v4
22g.42693734_42693745delCA639829284A4GALT,CYB5R3c.-49+27052_-49+27063del (n.-49+27052_-49+27063del)
c.207_218del (p.Pro70_Gly73del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.42693734_42693750delCA639829285A4GALT,CYB5R3c.-49+27047_-49+27063del (n.-49+27047_-49+27063del)
c.202_218del (p.Thr68ProfsTer?)
 gnomAD v2
22g.42693734_42693735insGCA1025982040A4GALT,CYB5R3c.-49+27062_-49+27063insC (n.-49+27062_-49+27063insC)
c.217_218insC (p.Gly73AlafsTer?)
 gnomAD v3 gnomAD v4
22g.42693734_42693735insGGGGGGGGGGGGCA1025982041A4GALT,CYB5R3c.-49+27062_-49+27063insCCCCCCCCCCCC (n.-49+27062_-49+27063insCCCCCCCCCCCC)
c.217_218insCCCCCCCCCCCC (p.Gly73delinsAlaProProProArg)
 gnomAD v3 gnomAD v4
22g.42693735C>ACA411812791A4GALT,CYB5R3c.-49+27062G>T (n.-49+27062G>T)
c.217G>T (p.Gly73Cys)
 gnomAD v3 gnomAD v4
22g.42693735C=CA2406870461A4GALT,CYB5R3c.-49+27062G= (n.-49+27062G=)
c.217G= (p.Gly73=)
22g.42693735C>GCA411812792A4GALT,CYB5R3c.-49+27062G>C (n.-49+27062G>C)
c.217G>C (p.Gly73Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.42693735C>TCA411812793A4GALT,CYB5R3c.-49+27062G>A (n.-49+27062G>A)
c.217G>A (p.Gly73Ser)
 gnomAD v4 COSMIC
22g.42693735_42693745delCA2657079111A4GALT,CYB5R3c.-49+27052_-49+27062del (n.-49+27052_-49+27062del)
c.207_217del (p.Ser71HisfsTer?)
 gnomAD v4
22g.42693735_42693736insCTGGGGGGGGGGCGCA2657079119A4GALT,CYB5R3c.-49+27061_-49+27062insCGCCCCCCCCCCAG (n.-49+27061_-49+27062insCGCCCCCCCCCCAG)
c.216_217insCGCCCCCCCCCCAG (p.Gly73ArgfsTer?)
 gnomAD v4
22g.42693736G>ACA10270360A4GALT,CYB5R3c.-49+27061C>T (n.-49+27061C>T)
c.216C>T (p.His72=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.42693736G>CCA411812794A4GALT,CYB5R3c.-49+27061C>G (n.-49+27061C>G)
c.216C>G (p.His72Gln)
22g.42693736G=CA2406870462A4GALT,CYB5R3c.-49+27061C= (n.-49+27061C=)
c.216C= (p.His72=)
22g.42693736G>TCA411812795A4GALT,CYB5R3c.-49+27061C>A (n.-49+27061C>A)
c.216C>A (p.His72Gln)
 dbSNP gnomAD v3 gnomAD v4
22g.42693736_42693737insGGCA2657079112A4GALT,CYB5R3c.-49+27061_-49+27062insCC (n.-49+27061_-49+27062insCC)
c.216_217insCC (p.Gly73ProfsTer?)
 gnomAD v4
22g.42693736_42693737insGGGCA1025982042A4GALT,CYB5R3c.-49+27061_-49+27062insCCC (n.-49+27061_-49+27062insCCC)
c.216_217insCCC (p.His72_Gly73insPro)
 gnomAD v3 gnomAD v4
22g.42693736_42693737insGGGGGCA2819076090A4GALT,CYB5R3c.-49+27061_-49+27062insCCCCC (n.-49+27061_-49+27062insCCCCC)
c.216_217insCCCCC (p.Gly73ProfsTer?)
22g.42693736_42693737insGGGGGGGGCA1025982043A4GALT,CYB5R3c.-49+27061_-49+27062insCCCCCCCC (n.-49+27061_-49+27062insCCCCCCCC)
c.216_217insCCCCCCCC (p.Gly73ProfsTer?)
 gnomAD v3 gnomAD v4
22g.42693736_42693737insGGGGGGGGGGCA2657079118A4GALT,CYB5R3c.-49+27061_-49+27062insCCCCCCCCCC (n.-49+27061_-49+27062insCCCCCCCCCC)
c.216_217insCCCCCCCCCC (p.Gly73ProfsTer?)
 gnomAD v4
22g.42693736_42693737insGGGGGGGGGCGGCA2819076094A4GALT,CYB5R3c.-49+27061_-49+27062insCGCCCCCCCCCC (n.-49+27061_-49+27062insCGCCCCCCCCCC)
c.216_217insCGCCCCCCCCCC (p.His72_Gly73insArgProProPro)
22g.42693736_42693737insGGGGGGGGGGGGCA2819076092A4GALT,CYB5R3c.-49+27061_-49+27062insCCCCCCCCCCCC (n.-49+27061_-49+27062insCCCCCCCCCCCC)
c.216_217insCCCCCCCCCCCC (p.His72_Gly73insProProProPro)
22g.42693736_42693737insGGGGGGGGGCGGGCA2657079116A4GALT,CYB5R3c.-49+27061_-49+27062insCCGCCCCCCCCCC (n.-49+27061_-49+27062insCCGCCCCCCCCCC)
c.216_217insCCGCCCCCCCCCC (p.Gly73ProfsTer?)
 gnomAD v4
22g.42693736_42693737insGGGGGGGGGGCGGCA2657079121A4GALT,CYB5R3c.-49+27061_-49+27062insCGCCCCCCCCCCC (n.-49+27061_-49+27062insCGCCCCCCCCCCC)
c.216_217insCGCCCCCCCCCCC (p.Gly73ArgfsTer?)
 gnomAD v4
22g.42693736_42693737insGGGGGGGGGGGGGCA639829288A4GALT,CYB5R3c.-49+27061_-49+27062insCCCCCCCCCCCCC (n.-49+27061_-49+27062insCCCCCCCCCCCCC)
c.216_217insCCCCCCCCCCCCC (p.Gly73ProfsTer?)
 gnomAD v2 gnomAD v4
22g.42693736_42693737insGGGGGGGGGGGGGGGCA2832578088A4GALT,CYB5R3c.-49+27061_-49+27062insCCCCCCCCCCCCCCC (n.-49+27061_-49+27062insCCCCCCCCCCCCCCC)
c.216_217insCCCCCCCCCCCCCCC (p.His72_Gly73insProProProProPro)
22g.42693736_42693737insGGGGGGGGGGGGGCGGCA2657079114A4GALT,CYB5R3c.-49+27061_-49+27062insCGCCCCCCCCCCCCCC (n.-49+27061_-49+27062insCGCCCCCCCCCCCCCC)
c.216_217insCGCCCCCCCCCCCCCC (p.Gly73ArgfsTer?)
 gnomAD v4
22g.42693736dupCA515071913A4GALT,CYB5R3c.-49+27061dup (n.-49+27061dup)
c.216dup (p.Gly73ArgfsTer?)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.42693737delCA2657079126A4GALT,CYB5R3c.-49+27060del (n.-49+27060del)
c.215del (p.His72ProfsTer?)
 gnomAD v4
22g.42693737T>ACA411812796A4GALT,CYB5R3c.-49+27060A>T (n.-49+27060A>T)
c.215A>T (p.His72Leu)
22g.42693737T>CCA411812797A4GALT,CYB5R3c.-49+27060A>G (n.-49+27060A>G)
c.215A>G (p.His72Arg)
22g.42693737T>GCA411812798A4GALT,CYB5R3c.-49+27060A>C (n.-49+27060A>C)
c.215A>C (p.His72Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
22g.42693737T=CA2406870463A4GALT,CYB5R3c.-49+27060A= (n.-49+27060A=)
c.215A= (p.His72=)
22g.42693737_42693738insTGGGGGGGGGGCA2657079157A4GALT,CYB5R3c.-49+27059_-49+27060insCCCCCCCCCCA (n.-49+27059_-49+27060insCCCCCCCCCCA)
c.214_215insCCCCCCCCCCA (p.His72ProfsTer?)
 gnomAD v4
22g.42693737_42693738insTGGGGGGGGGGGCA2657079158A4GALT,CYB5R3c.-49+27059_-49+27060insCCCCCCCCCCCA (n.-49+27059_-49+27060insCCCCCCCCCCCA)
c.214_215insCCCCCCCCCCCA (p.His72delinsProProProProAsn)
 gnomAD v4
22g.42693737_42693738insTGGTTGGGGGGGGGGGGGGGGGGGGCA2657079159A4GALT,CYB5R3c.-49+27059_-49+27060insCCCCCCCCCCCCCCCCCCCCAACCA (n.-49+27059_-49+27060insCCCCCCCCCCCCCCCCCCCCAACCA)
c.214_215insCCCCCCCCCCCCCCCCCCCCAACCA (p.His72ProfsTer?)
 gnomAD v4
22g.42693738G>ACA411812799A4GALT,CYB5R3c.-49+27059C>T (n.-49+27059C>T)
c.214C>T (p.His72Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.42693738G>CCA411812801A4GALT,CYB5R3c.-49+27059C>G (n.-49+27059C>G)
c.214C>G (p.His72Asp)
22g.42693738G=CA2406870464A4GALT,CYB5R3c.-49+27059C= (n.-49+27059C=)
c.214C= (p.His72=)
22g.42693738G>TCA411812800A4GALT,CYB5R3c.-49+27059C>A (n.-49+27059C>A)
c.214C>A (p.His72Asn)
22g.42693738_42693739insTTGGGGGGCA2657079154A4GALT,CYB5R3c.-49+27059_-49+27060insCCCCCAAC (n.-49+27059_-49+27060insCCCCCAAC)
c.214_215insCCCCCAAC (p.His72ProfsTer?)
 gnomAD v4
22g.42693738_42693739insTTGGGGGGCGGGGCA2657079155A4GALT,CYB5R3c.-49+27059_-49+27060insCCCGCCCCCCAAC (n.-49+27059_-49+27060insCCCGCCCCCCAAC)
c.214_215insCCCGCCCCCCAAC (p.His72ProfsTer?)
 gnomAD v4
22g.42693739_42693740insTTGTTTGGGTTGGGGGGGGGGGGCA2657079153A4GALT,CYB5R3c.-49+27059_-49+27060insCCCCCCCCCCAACCCAAACAACC (n.-49+27059_-49+27060insCCCCCCCCCCAACCCAAACAACC)
c.214_215insCCCCCCCCCCAACCCAAACAACC (p.His72ProfsTer?)
 gnomAD v4
22g.42693739_42693740insTTGGGTGGGGGGGGGGGGGGGGGGGGCA2819076097A4GALT,CYB5R3c.-49+27059_-49+27060insCCCCCCCCCCCCCCCCCCACCCAACC (n.-49+27059_-49+27060insCCCCCCCCCCCCCCCCCCACCCAACC)
c.214_215insCCCCCCCCCCCCCCCCCCACCCAACC (p.His72ProfsTer?)
22g.42693739_42693740insCACAGTGTGTGGGGGGGGGGGGGGGGGGGGGGCA2657079163A4GALT,CYB5R3c.-49+27059_-49+27060insCCCCCCCCCCCCCCCCCCCCACACACTGTGCC (n.-49+27059_-49+27060insCCCCCCCCCCCCCCCCCCCCACACACTGTGCC)
c.214_215insCCCCCCCCCCCCCCCCCCCCACACACTGTGCC (p.His72ProfsTer?)
 gnomAD v4
22g.42693740_42693741insGGGGCA1025982044A4GALT,CYB5R3c.-49+27059_-49+27060insCCCC (n.-49+27059_-49+27060insCCCC)
c.214_215insCCCC (p.His72ProfsTer?)
 gnomAD v3 gnomAD v4
22g.42693740_42693741insTGGGGCA2541760907A4GALT,CYB5R3c.-49+27059_-49+27060insCACCC (n.-49+27059_-49+27060insCACCC)
c.214_215insCACCC (p.His72ProfsTer?)
22g.42693740_42693741insCGGGGGGCA1025982045A4GALT,CYB5R3c.-49+27059_-49+27060insCCCGCCC (n.-49+27059_-49+27060insCCCGCCC)
c.214_215insCCCGCCC (p.His72ProfsTer?)
 gnomAD v3 gnomAD v4
22g.42693740_42693741insCGGGGGGGCA2657079165A4GALT,CYB5R3c.-49+27059_-49+27060insCCCCGCCC (n.-49+27059_-49+27060insCCCCGCCC)
c.214_215insCCCCGCCC (p.His72ProfsTer?)
 gnomAD v4
22g.42693740_42693741insGGGGGGGGCA2657079169A4GALT,CYB5R3c.-49+27059_-49+27060insCCCCCCCC (n.-49+27059_-49+27060insCCCCCCCC)
c.214_215insCCCCCCCC (p.His72ProfsTer?)
 gnomAD v4
22g.42693740_42693741insGGGGGGGGGGCA2657079148A4GALT,CYB5R3c.-49+27059_-49+27060insCCCCCCCCCC (n.-49+27059_-49+27060insCCCCCCCCCC)
c.214_215insCCCCCCCCCC (p.His72ProfsTer?)
 dbSNP gnomAD v4
22g.42693740_42693741insGGGGCGGGGGGCA2657079160A4GALT,CYB5R3c.-49+27059_-49+27060insCCCGCCCCCCC (n.-49+27059_-49+27060insCCCGCCCCCCC)
c.214_215insCCCGCCCCCCC (p.His72ProfsTer?)
 gnomAD v4
22g.42693740_42693741insGGGGGGGGGGGCA2657079177A4GALT,CYB5R3c.-49+27059_-49+27060insCCCCCCCCCCC (n.-49+27059_-49+27060insCCCCCCCCCCC)
c.214_215insCCCCCCCCCCC (p.His72ProfsTer?)
 gnomAD v4
22g.42693740_42693741insGGGGGGCGGGGGGCA2657079174A4GALT,CYB5R3c.-49+27059_-49+27060insCCCGCCCCCCCCC (n.-49+27059_-49+27060insCCCGCCCCCCCCC)
c.214_215insCCCGCCCCCCCCC (p.His72ProfsTer?)
 gnomAD v4
22g.42693740_42693741insGGGGGGGGGGGGGCA2657079178A4GALT,CYB5R3c.-49+27059_-49+27060insCCCCCCCCCCCCC (n.-49+27059_-49+27060insCCCCCCCCCCCCC)
c.214_215insCCCCCCCCCCCCC (p.His72ProfsTer?)
 gnomAD v4
22g.42693740_42693741insGGGGGGCCGGGGGGCA2657079171A4GALT,CYB5R3c.-49+27059_-49+27060insCCCGGCCCCCCCCC (n.-49+27059_-49+27060insCCCGGCCCCCCCCC)
c.214_215insCCCGGCCCCCCCCC (p.His72ProfsTer?)
 gnomAD v4
22g.42693740_42693741insGGGGGGGCGGGGGGCA2657079176A4GALT,CYB5R3c.-49+27059_-49+27060insCCCGCCCCCCCCCC (n.-49+27059_-49+27060insCCCGCCCCCCCCCC)
c.214_215insCCCGCCCCCCCCCC (p.His72ProfsTer?)
 gnomAD v4
22g.42693740_42693741insGGGGGGGGGGGGGGCA2657079180A4GALT,CYB5R3c.-49+27059_-49+27060insCCCCCCCCCCCCCC (n.-49+27059_-49+27060insCCCCCCCCCCCCCC)
c.214_215insCCCCCCCCCCCCCC (p.His72ProfsTer?)
 gnomAD v4
22g.42693740_42693741insTGGGGGGGGGGGGGCA2657079145A4GALT,CYB5R3c.-49+27059_-49+27060insCCCCCCCCCCACCC (n.-49+27059_-49+27060insCCCCCCCCCCACCC)
c.214_215insCCCCCCCCCCACCC (p.His72ProfsTer?)
 gnomAD v4
22g.42693740_42693741insGGGGGGGGGGGGGGGCA2657079162A4GALT,CYB5R3c.-49+27059_-49+27060insCCCCCCCCCCCCCCC (n.-49+27059_-49+27060insCCCCCCCCCCCCCCC)
c.214_215insCCCCCCCCCCCCCCC (p.Ser71_His72insProProProProPro)
 gnomAD v4
22g.42693740_42693741insTGGGGGGGGGGGGGGCA2657079146A4GALT,CYB5R3c.-49+27059_-49+27060insCCCCCCCCCCCACCC (n.-49+27059_-49+27060insCCCCCCCCCCCACCC)
c.214_215insCCCCCCCCCCCACCC (p.Ser71_His72insProProProProThr)
 gnomAD v4
22g.42693740_42693741insGTTGGGGGGGGGGGGGCA2657079142A4GALT,CYB5R3c.-49+27059_-49+27060insCCCCCCCCCCAACCCC (n.-49+27059_-49+27060insCCCCCCCCCCAACCCC)
c.214_215insCCCCCCCCCCAACCCC (p.His72ProfsTer?)
 gnomAD v4
22g.42693740_42693741insTGGTGGGGGGGGGGGGGCA2657079150A4GALT,CYB5R3c.-49+27059_-49+27060insCCCCCCCCCCACCACCC (n.-49+27059_-49+27060insCCCCCCCCCCACCACCC)
c.214_215insCCCCCCCCCCACCACCC (p.His72ProfsTer?)
 gnomAD v4
22g.42693740_42693741insTTGTGGGGGGGGGGGGGGCA2657079152A4GALT,CYB5R3c.-49+27059_-49+27060insCCCCCCCCCCCACAACCC (n.-49+27059_-49+27060insCCCCCCCCCCCACAACCC)
c.214_215insCCCCCCCCCCCACAACCC (p.Ser71_His72insProProProProThrThr)
 gnomAD v4
22g.42693740_42693741insCGGGGGGGGGGGGGGGGGGCA2657079168A4GALT,CYB5R3c.-49+27059_-49+27060insCCCCCCCCCCCCCCCGCCC (n.-49+27059_-49+27060insCCCCCCCCCCCCCCCGCCC)
c.214_215insCCCCCCCCCCCCCCCGCCC (p.His72ProfsTer?)
 gnomAD v4
22g.42693740_42693741insGTGGTGGGGGGGGGGGGGGCA2657079140A4GALT,CYB5R3c.-49+27059_-49+27060insCCCCCCCCCCCACCACCCC (n.-49+27059_-49+27060insCCCCCCCCCCCACCACCCC)
c.214_215insCCCCCCCCCCCACCACCCC (p.His72ProfsTer?)
 gnomAD v4
22g.42693740_42693741insGGGGGGGGGGGGGGGGGGGGCA2657079139A4GALT,CYB5R3c.-49+27059_-49+27060insCCCCCCCCCCCCCCCCCCCC (n.-49+27059_-49+27060insCCCCCCCCCCCCCCCCCCCC)
c.214_215insCCCCCCCCCCCCCCCCCCCC (p.His72ProfsTer?)
 gnomAD v4
22g.42693740_42693741insGGGGGGGGGGGGGGGGGGGGGGCA2819076098A4GALT,CYB5R3c.-49+27059_-49+27060insCCCCCCCCCCCCCCCCCCCCCC (n.-49+27059_-49+27060insCCCCCCCCCCCCCCCCCCCCCC)
c.214_215insCCCCCCCCCCCCCCCCCCCCCC (p.His72ProfsTer?)
22g.42693740dupCA639829289A4GALT,CYB5R3c.-49+27059dup (n.-49+27059dup)
c.214dup (p.His72ProfsTer?)
 gnomAD v2 gnomAD v3 gnomAD v4
22g.42693739_42693740dupCA1025982046A4GALT,CYB5R3c.-49+27058_-49+27059dup (n.-49+27058_-49+27059dup)
c.213_214dup (p.His72ProfsTer?)
 gnomAD v3 gnomAD v4
22g.42693739G>ACA10270361A4GALT,CYB5R3c.-49+27058C>T (n.-49+27058C>T)
c.213C>T (p.Ser71=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.42693739G>CCA515071927A4GALT,CYB5R3c.-49+27058C>G (n.-49+27058C>G)
c.213C>G (p.Ser71=)
22g.42693739G=CA2406870465A4GALT,CYB5R3c.-49+27058C= (n.-49+27058C=)
c.213C= (p.Ser71=)
22g.42693739G>TCA515071926A4GALT,CYB5R3c.-49+27058C>A (n.-49+27058C>A)
c.213C>A (p.Ser71=)
22g.42693741_42693752delCA2657079183A4GALT,CYB5R3c.-49+27047_-49+27058del (n.-49+27047_-49+27058del)
c.202_213del (p.Thr68_Ser71del)
 gnomAD v4
22g.42693740G>ACA411812803A4GALT,CYB5R3c.-49+27057C>T (n.-49+27057C>T)
c.212C>T (p.Ser71Phe)
 gnomAD v4 COSMIC
22g.42693740G>CCA411812802A4GALT,CYB5R3c.-49+27057C>G (n.-49+27057C>G)
c.212C>G (p.Ser71Cys)
22g.42693740G>TCA411812804A4GALT,CYB5R3c.-49+27057C>A (n.-49+27057C>A)
c.212C>A (p.Ser71Tyr)
22g.42693740_42693745delinsGAGGGTCA2406870466A4GALT,CYB5R3c.-49+27052_-49+27057delinsACCCTC (n.-49+27052_-49+27057delinsACCCTC)
c.207_212delinsACCCTC (p.Pro69=)
22g.42693741_42693746delCA2657079190A4GALT,CYB5R3c.-49+27052_-49+27057del (n.-49+27052_-49+27057del)
c.207_212del (p.Pro70_Ser71del)
 gnomAD v4
22g.42693740_42693741insTCA2657079194A4GALT,CYB5R3c.-49+27056_-49+27057insA (n.-49+27056_-49+27057insA)
c.211_212insA (p.Ser71TyrfsTer?)
 gnomAD v4
22g.42693741delCA1025982047A4GALT,CYB5R3c.-49+27056del (n.-49+27056del)
c.211del (p.Ser71ProfsTer?)
 gnomAD v3 gnomAD v4
22g.42693741A=CA2406870467A4GALT,CYB5R3c.-49+27056T= (n.-49+27056T=)
c.211T= (p.Ser71=)
22g.42693741A>CCA411812805A4GALT,CYB5R3c.-49+27056T>G (n.-49+27056T>G)
c.211T>G (p.Ser71Ala)
 gnomAD v3 gnomAD v4
22g.42693741A>GCA411812807A4GALT,CYB5R3c.-49+27056T>C (n.-49+27056T>C)
c.211T>C (p.Ser71Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
22g.42693741A>TCA411812806A4GALT,CYB5R3c.-49+27056T>A (n.-49+27056T>A)
c.211T>A (p.Ser71Thr)
 gnomAD v4
22g.42693741_42693745delCA639829290A4GALT,CYB5R3c.-49+27052_-49+27056del (n.-49+27052_-49+27056del)
c.207_211del (p.Ser71ArgfsTer?)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.42693741_42693750delCA2657079197A4GALT,CYB5R3c.-49+27047_-49+27056del (n.-49+27047_-49+27056del)
c.202_211del (p.Thr68ProfsTer?)
 gnomAD v4
22g.42693742G>ACA515071939A4GALT,CYB5R3c.-49+27055C>T (n.-49+27055C>T)
c.210C>T (p.Pro70=)
 dbSNP gnomAD v3 gnomAD v4
22g.42693742G>CCA515071936A4GALT,CYB5R3c.-49+27055C>G (n.-49+27055C>G)
c.210C>G (p.Pro70=)
22g.42693742G=CA2406870468A4GALT,CYB5R3c.-49+27055C= (n.-49+27055C=)
c.210C= (p.Pro70=)
22g.42693742G>TCA515071935A4GALT,CYB5R3c.-49+27055C>A (n.-49+27055C>A)
c.210C>A (p.Pro70=)
 gnomAD v4
22g.42693743_42693744insTTGGGGGGGGGGGGGGGGGGGGGGGGGGCA2657079209A4GALT,CYB5R3c.-49+27055_-49+27056insCCCCCCCCCCCCCCCCCCCCCCCCAACC (n.-49+27055_-49+27056insCCCCCCCCCCCCCCCCCCCCCCCCAACC)
c.210_211insCCCCCCCCCCCCCCCCCCCCCCCCAACC (p.Ser71ProfsTer?)
 gnomAD v4
22g.42693744_42693745insGGGGCA2657079218A4GALT,CYB5R3c.-49+27055_-49+27056insCCCC (n.-49+27055_-49+27056insCCCC)
c.210_211insCCCC (p.Ser71ProfsTer?)
 gnomAD v4
22g.42693744_42693745insGGGGGCA1025982053A4GALT,CYB5R3c.-49+27055_-49+27056insCCCCC (n.-49+27055_-49+27056insCCCCC)
c.210_211insCCCCC (p.Ser71ProfsTer?)
 gnomAD v3 gnomAD v4
22g.42693744_42693745insGGGGGGGCA1025982052A4GALT,CYB5R3c.-49+27055_-49+27056insCCCCCCC (n.-49+27055_-49+27056insCCCCCCC)
c.210_211insCCCCCCC (p.Ser71ProfsTer?)
 gnomAD v3 gnomAD v4
22g.42693744_42693745insGGGGGGGGCA2657079212A4GALT,CYB5R3c.-49+27055_-49+27056insCCCCCCCC (n.-49+27055_-49+27056insCCCCCCCC)
c.210_211insCCCCCCCC (p.Ser71ProfsTer?)
 gnomAD v4
22g.42693744_42693745insGGGGGGGGGCA1025982050A4GALT,CYB5R3c.-49+27055_-49+27056insCCCCCCCCC (n.-49+27055_-49+27056insCCCCCCCCC)
c.210_211insCCCCCCCCC (p.Pro70_Ser71insProProPro)
 gnomAD v3 gnomAD v4
22g.42693744_42693745insCGGGGGGGGGGCA2657079206A4GALT,CYB5R3c.-49+27055_-49+27056insCCCCCCCGCCC (n.-49+27055_-49+27056insCCCCCCCGCCC)
c.210_211insCCCCCCCGCCC (p.Ser71ProfsTer?)
 gnomAD v4
22g.42693744_42693745insGCGGGGGGGGGGCA2657079217A4GALT,CYB5R3c.-49+27055_-49+27056insCCCCCCCGCCCC (n.-49+27055_-49+27056insCCCCCCCGCCCC)
c.210_211insCCCCCCCGCCCC (p.Pro70_Ser71insProProArgPro)
 gnomAD v4
22g.42693744_42693745insGGGCGGGGGGGGGCA2547472473A4GALT,CYB5R3c.-49+27055_-49+27056insCCCCCCGCCCCCC (n.-49+27055_-49+27056insCCCCCCGCCCCCC)
c.210_211insCCCCCCGCCCCCC (p.Ser71ProfsTer?)
22g.42693744_42693745insGGGCGGGGGGGGGGCA639829291A4GALT,CYB5R3c.-49+27055_-49+27056insCCCCCCCGCCCCCC (n.-49+27055_-49+27056insCCCCCCCGCCCCCC)
c.210_211insCCCCCCCGCCCCCC (p.Ser71ProfsTer?)
 gnomAD v2 gnomAD v3 gnomAD v4
22g.42693744_42693745insGGGGGGGGGGGGGGCA1025982049A4GALT,CYB5R3c.-49+27055_-49+27056insCCCCCCCCCCCCCC (n.-49+27055_-49+27056insCCCCCCCCCCCCCC)
c.210_211insCCCCCCCCCCCCCC (p.Ser71ProfsTer?)
 gnomAD v3 gnomAD v4
22g.42693744_42693745insGGGCCGGGGGGGGGGCA2657079216A4GALT,CYB5R3c.-49+27055_-49+27056insCCCCCCCGGCCCCCC (n.-49+27055_-49+27056insCCCCCCCGGCCCCCC)
c.210_211insCCCCCCCGGCCCCCC (p.Pro70_Ser71insProProArgProPro)
 gnomAD v4
22g.42693744_42693745insGGGGCGGGGGGGGGGCA2657079214A4GALT,CYB5R3c.-49+27055_-49+27056insCCCCCCCGCCCCCCC (n.-49+27055_-49+27056insCCCCCCCGCCCCCCC)
c.210_211insCCCCCCCGCCCCCCC (p.Pro70_Ser71insProProArgProPro)
 gnomAD v4
22g.42693744_42693745insGGGGGGGGGGGGGGGCA2819076103A4GALT,CYB5R3c.-49+27055_-49+27056insCCCCCCCCCCCCCCC (n.-49+27055_-49+27056insCCCCCCCCCCCCCCC)
c.210_211insCCCCCCCCCCCCCCC (p.Pro70_Ser71insProProProProPro)
22g.42693744_42693745insAGGGGAGGGGGGGGGGCA1025982054A4GALT,CYB5R3c.-49+27055_-49+27056insCCCCCCCTCCCCTCCC (n.-49+27055_-49+27056insCCCCCCCTCCCCTCCC)
c.210_211insCCCCCCCTCCCCTCCC (p.Ser71ProfsTer?)
 gnomAD v3 gnomAD v4
22g.42693744_42693745insGGGGGCGGGGGGGGGGCA639829293A4GALT,CYB5R3c.-49+27055_-49+27056insCCCCCCCGCCCCCCCC (n.-49+27055_-49+27056insCCCCCCCGCCCCCCCC)
c.210_211insCCCCCCCGCCCCCCCC (p.Ser71ProfsTer?)
 gnomAD v2
22g.42693744_42693745insGGGGGGGCGGGGGGGGGGCA2657079211A4GALT,CYB5R3c.-49+27055_-49+27056insCCCCCCCGCCCCCCCCCC (n.-49+27055_-49+27056insCCCCCCCGCCCCCCCCCC)
c.210_211insCCCCCCCGCCCCCCCCCC (p.Pro70_Ser71insProProArgProProPro)
 gnomAD v4
22g.42693744_42693745insGGGGGGGGGGGGGGGGGGCA2657079207A4GALT,CYB5R3c.-49+27055_-49+27056insCCCCCCCCCCCCCCCCCC (n.-49+27055_-49+27056insCCCCCCCCCCCCCCCCCC)
c.210_211insCCCCCCCCCCCCCCCCCC (p.Pro70_Ser71insProProProProProPro)
 gnomAD v4
22g.42693744_42693745insGGGGGGGGGCGGGGGGGGGGCA639829295A4GALT,CYB5R3c.-49+27055_-49+27056insCCCCCCCGCCCCCCCCCCCC (n.-49+27055_-49+27056insCCCCCCCGCCCCCCCCCCCC)
c.210_211insCCCCCCCGCCCCCCCCCCCC (p.Ser71ProfsTer?)
 gnomAD v2
22g.42693744_42693745insGGGGGCGGGGGGGGGGGGGGGGGCA1025982051A4GALT,CYB5R3c.-49+27055_-49+27056insCCCCCCCCCCCCCCGCCCCCCCC (n.-49+27055_-49+27056insCCCCCCCCCCCCCCGCCCCCCCC)
c.210_211insCCCCCCCCCCCCCCGCCCCCCCC (p.Ser71ProfsTer?)
 dbSNP gnomAD v3 gnomAD v4
22g.42693744_42693745insGGGGGGGGGGGGCGGGGGGGGGGCA639829292A4GALT,CYB5R3c.-49+27055_-49+27056insCCCCCCCGCCCCCCCCCCCCCCC (n.-49+27055_-49+27056insCCCCCCCGCCCCCCCCCCCCCCC)
c.210_211insCCCCCCCGCCCCCCCCCCCCCCC (p.Ser71ProfsTer?)
 gnomAD v2 gnomAD v4
22g.42693744_42693745insGGGGGGGGGGGCCGGGGGGGGGGCA2657079205A4GALT,CYB5R3c.-49+27055_-49+27056insCCCCCCCGGCCCCCCCCCCCCCC (n.-49+27055_-49+27056insCCCCCCCGGCCCCCCCCCCCCCC)
c.210_211insCCCCCCCGGCCCCCCCCCCCCCC (p.Ser71ProfsTer?)
 gnomAD v4
22g.42693744_42693745insCGGGGCGGGGGGGGGGGGGGGGGCA2657079219A4GALT,CYB5R3c.-49+27055_-49+27056insCCCCCCCCCCCCCCGCCCCGCCC (n.-49+27055_-49+27056insCCCCCCCCCCCCCCGCCCCGCCC)
c.210_211insCCCCCCCCCCCCCCGCCCCGCCC (p.Ser71ProfsTer?)
 gnomAD v4
22g.42693744_42693745insCGGGGGGGGGGGCCGGGGGGGGGGCA1025982048A4GALT,CYB5R3c.-49+27055_-49+27056insCCCCCCCGGCCCCCCCCCCCGCCC (n.-49+27055_-49+27056insCCCCCCCGGCCCCCCCCCCCGCCC)
c.210_211insCCCCCCCGGCCCCCCCCCCCGCCC (p.Pro70_Ser71insProProArgProProProProPro)
 gnomAD v3 gnomAD v4
22g.42693744_42693745insGGGGGGGGGGGGGGGCGGGGGGGGGGCA2657079208A4GALT,CYB5R3c.-49+27055_-49+27056insCCCCCCCGCCCCCCCCCCCCCCCCCC (n.-49+27055_-49+27056insCCCCCCCGCCCCCCCCCCCCCCCCCC)
c.210_211insCCCCCCCGCCCCCCCCCCCCCCCCCC (p.Ser71ProfsTer?)
 gnomAD v4
22g.42693744dupCA2571016194A4GALT,CYB5R3c.-49+27055dup (n.-49+27055dup)
c.210dup (p.Ser71LeufsTer?)
 gnomAD v3 gnomAD v4
22g.42693743_42693744dupCA1025982055A4GALT,CYB5R3c.-49+27054_-49+27055dup (n.-49+27054_-49+27055dup)
c.209_210dup (p.Ser71ProfsTer?)
 gnomAD v3 gnomAD v4
22g.42693750_42693754dupCA753384547A4GALT,CYB5R3c.-49+27051_-49+27055dup (n.-49+27051_-49+27055dup)
c.206_210dup (p.Ser71HisfsTer?)
 dbSNP
22g.42693750_42693754delCA2657079210A4GALT,CYB5R3c.-49+27051_-49+27055del (n.-49+27051_-49+27055del)
c.206_210del (p.Pro69LeufsTer?)
 gnomAD v4
22g.42693744_42693756delCA639829294A4GALT,CYB5R3c.-49+27043_-49+27055del (n.-49+27043_-49+27055del)
c.198_210del (p.Pro69AlafsTer?)
 gnomAD v2 gnomAD v4
22g.42693743G>ACA411812808A4GALT,CYB5R3c.-49+27054C>T (n.-49+27054C>T)
c.209C>T (p.Pro70Leu)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
22g.42693743G>CCA411812810A4GALT,CYB5R3c.-49+27054C>G (n.-49+27054C>G)
c.209C>G (p.Pro70Arg)
22g.42693743G=CA2406870469A4GALT,CYB5R3c.-49+27054C= (n.-49+27054C=)
c.209C= (p.Pro70=)
22g.42693743G>TCA411812809A4GALT,CYB5R3c.-49+27054C>A (n.-49+27054C>A)
c.209C>A (p.Pro70His)
 gnomAD v4
22g.42693744_42693745insGCGGCA2657079223A4GALT,CYB5R3c.-49+27054_-49+27055insGCCC (n.-49+27054_-49+27055insGCCC)
c.209_210insGCCC (p.Ser71ProfsTer?)
 gnomAD v4
22g.42693744_42693745insGGGCGGCA2819076104A4GALT,CYB5R3c.-49+27054_-49+27055insGCCCCC (n.-49+27054_-49+27055insGCCCCC)
c.209_210insGCCCCC (p.Pro70_Ser71insProPro)
22g.42693750_42693769delCA2577739313A4GALT,CYB5R3c.-49+27035_-49+27054del (n.-49+27035_-49+27054del)
c.190_209del (p.Thr65ProfsTer?)
22g.42693744G>ACA411812811A4GALT,CYB5R3c.-49+27053C>T (n.-49+27053C>T)
c.208C>T (p.Pro70Ser)
 gnomAD v4
22g.42693744G>CCA411812812A4GALT,CYB5R3c.-49+27053C>G (n.-49+27053C>G)
c.208C>G (p.Pro70Ala)
22g.42693744G=CA2406870470A4GALT,CYB5R3c.-49+27053C= (n.-49+27053C=)
c.208C= (p.Pro70=)
22g.42693744G>TCA324732487A4GALT,CYB5R3c.-49+27053C>A (n.-49+27053C>A)
c.208C>A (p.Pro70Thr)
 dbSNP gnomAD v4
22g.42693745_42693746delCA2657079228A4GALT,CYB5R3c.-49+27052_-49+27053del (n.-49+27052_-49+27053del)
c.207_208del (p.Pro70LeufsTer?)
 gnomAD v4
22g.42693745_42693751delCA2657079229A4GALT,CYB5R3c.-49+27047_-49+27053del (n.-49+27047_-49+27053del)
c.202_208del (p.Thr68ProfsTer?)
 gnomAD v4
22g.42693745delCA1025982056A4GALT,CYB5R3c.-49+27052del (n.-49+27052del)
c.207del (p.Ser71ProfsTer?)
 gnomAD v3 gnomAD v4
22g.42693745T>ACA515071951A4GALT,CYB5R3c.-49+27052A>T (n.-49+27052A>T)
c.207A>T (p.Pro69=)
 gnomAD v3 gnomAD v4
22g.42693745T>CCA515071946A4GALT,CYB5R3c.-49+27052A>G (n.-49+27052A>G)
c.207A>G (p.Pro69=)
22g.42693745T>GCA515071948A4GALT,CYB5R3c.-49+27052A>C (n.-49+27052A>C)
c.207A>C (p.Pro69=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.42693745T=CA2406870471A4GALT,CYB5R3c.-49+27052A= (n.-49+27052A=)
c.207A= (p.Pro69=)
22g.42693745_42693750delCA2657079232A4GALT,CYB5R3c.-49+27047_-49+27052del (n.-49+27047_-49+27052del)
c.202_207del (p.Thr68_Pro69del)
 gnomAD v4
22g.42693745_42693746insTGGGTGGGGGGGGGCA2819076111A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCACCCA (n.-49+27051_-49+27052insCCCCCCCCCACCCA)
c.206_207insCCCCCCCCCACCCA (p.Ser71ProfsTer?)
22g.42693745_42693746insTGGGGGGGGGGGGGGGGGGCA2657079389A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCA (n.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCA)
c.206_207insCCCCCCCCCCCCCCCCCCA (p.Ser71ProfsTer?)
 gnomAD v4
22g.42693745_42693746insTGGTTGTGGGGGGGGGGGGGGGGGGGGGGGGGGCA2657079388A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCCCCCCCCCACAACCA (n.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCCCCCCCCCACAACCA)
c.206_207insCCCCCCCCCCCCCCCCCCCCCCCCCCACAACCA (p.Pro69_Pro70insProProProProProProProProHisAsnGln)
 gnomAD v4
22g.42693745_42693746insTATTCTTTCCTCTTGAATTTTTTTGTGGCTGGTGGGGGGGGGGGGGGGGGGGCA2657079391A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCCACCAGCCACAAAAAAATTCAAGAGGAAAGAATA (n.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCCACCAGCCACAAAAAAATTCAAGAGGAAAGAATA)
c.206_207insCCCCCCCCCCCCCCCCCCCACCAGCCACAAAAAAATTCAAGAGGAAAGAATA (p.Ser71ProfsTer?)
 gnomAD v4
22g.42693746G>ACA411812813A4GALT,CYB5R3c.-49+27051C>T (n.-49+27051C>T)
c.206C>T (p.Pro69Leu)
 dbSNP gnomAD v2 gnomAD v4
22g.42693746G>CCA411812815A4GALT,CYB5R3c.-49+27051C>G (n.-49+27051C>G)
c.206C>G (p.Pro69Arg)
22g.42693746G=CA2406870472A4GALT,CYB5R3c.-49+27051C= (n.-49+27051C=)
c.206C= (p.Pro69=)
22g.42693746G>TCA411812814A4GALT,CYB5R3c.-49+27051C>A (n.-49+27051C>A)
c.206C>A (p.Pro69Gln)
 dbSNP gnomAD v2 gnomAD v4
22g.42693746_42693747insTGGGCA2657079401A4GALT,CYB5R3c.-49+27051_-49+27052insCCAC (n.-49+27051_-49+27052insCCAC)
c.206_207insCCAC (p.Pro70HisfsTer?)
 gnomAD v4
22g.42693746_42693747insTGGGGGGGGGGGCA1025982059A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCAC (n.-49+27051_-49+27052insCCCCCCCCCCAC)
c.206_207insCCCCCCCCCCAC (p.Pro69_Pro70insProProProThr)
 gnomAD v3 gnomAD v4
22g.42693746_42693747insTGGTGGGGGGGGGGCA2657079385A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCACCAC (n.-49+27051_-49+27052insCCCCCCCCCACCAC)
c.206_207insCCCCCCCCCACCAC (p.Ser71ProfsTer?)
 gnomAD v4
22g.42693746_42693747insTGGTGGGGGGGGGGGGGGGGGGGCA2657079396A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCACCAC (n.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCACCAC)
c.206_207insCCCCCCCCCCCCCCCCCCACCAC (p.Ser71ProfsTer?)
 gnomAD v4
22g.42693746_42693747insTGGTGGGGGGGGGGGGGGGGGGGGCA2657079395A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCCACCAC (n.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCCACCAC)
c.206_207insCCCCCCCCCCCCCCCCCCCACCAC (p.Pro69_Pro70insProProProProProProThrThr)
 gnomAD v4
22g.42693746_42693747insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGCA2657079399A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCCCCCCCCCCAC (n.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCCCCCCCCCCAC)
c.206_207insCCCCCCCCCCCCCCCCCCCCCCCCCCCAC (p.Ser71ProfsTer?)
 gnomAD v4
22g.42693746_42693747insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGCA1025982058A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCCCCCCCCCACCAC (n.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCCCCCCCCCACCAC)
c.206_207insCCCCCCCCCCCCCCCCCCCCCCCCCCACCAC (p.Ser71ProfsTer?)
 gnomAD v3 gnomAD v4
22g.42693746_42693747insTGTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCA2657079393A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCCCCCCCCCCCAACAC (n.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCCCCCCCCCCCAACAC)
c.206_207insCCCCCCCCCCCCCCCCCCCCCCCCCCCCAACAC (p.Pro69_Pro70insProProProProProProProProProAsnThr)
 gnomAD v4
22g.42693746_42693747insTGTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCA2657079392A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCAACAC (n.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCAACAC)
c.206_207insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCAACAC (p.Ser71ProfsTer?)
 gnomAD v4
22g.42693747_42693748insTGTGGGGGGGGCA2564984337A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCACACC (n.-49+27051_-49+27052insCCCCCCACACC)
c.206_207insCCCCCCACACC (p.Ser71ProfsTer?)
22g.42693747_42693748insTGTGGGGGGGGGGCA2657079428A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCACACC (n.-49+27051_-49+27052insCCCCCCCCACACC)
c.206_207insCCCCCCCCACACC (p.Ser71ProfsTer?)
 gnomAD v4
22g.42693747_42693748insTGGGGGGGGGGGGGGGGGGGGCA2657079397A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCACC (n.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCACC)
c.206_207insCCCCCCCCCCCCCCCCCCACC (p.Pro69_Pro70insProProProProProProPro)
 gnomAD v4
22g.42693747_42693748insTGGGGGGGGGGGGGGGGGGGGGCA2657079429A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCCACC (n.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCCACC)
c.206_207insCCCCCCCCCCCCCCCCCCCACC (p.Ser71ProfsTer?)
 gnomAD v4
22g.42693747_42693748insTGTGGGGGGGGGGGGGGGGGGGGCA2657079427A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCACACC (n.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCACACC)
c.206_207insCCCCCCCCCCCCCCCCCCACACC (p.Ser71ProfsTer?)
 gnomAD v4
22g.42693747_42693748insTGTGGGGGGGGGGGGGGGGGGGGGCA2657079424A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCCACACC (n.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCCACACC)
c.206_207insCCCCCCCCCCCCCCCCCCCACACC (p.Pro69_Pro70insProProProProProProThrPro)
 gnomAD v4
22g.42693747_42693748insTTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCA2657079403A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCCCCCCCCCCAAACC (n.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCCCCCCCCCCAAACC)
c.206_207insCCCCCCCCCCCCCCCCCCCCCCCCCCCAAACC (p.Ser71ProfsTer?)
 gnomAD v4
22g.42693747_42693748insTGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCA2657079423A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCCCCCCCCCCACACC (n.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCCCCCCCCCCACACC)
c.206_207insCCCCCCCCCCCCCCCCCCCCCCCCCCCACACC (p.Ser71ProfsTer?)
 gnomAD v4
22g.42693747_42693748insTGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCA2657079409A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCCCCCCCCCCCACACC (n.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCCCCCCCCCCCACACC)
c.206_207insCCCCCCCCCCCCCCCCCCCCCCCCCCCCACACC (p.Pro69_Pro70insProProProProProProProProProThrPro)
 gnomAD v4
22g.42693747_42693748insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCA2657079404A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCAACC (n.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCAACC)
c.206_207insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCAACC (p.Ser71ProfsTer?)
 gnomAD v4
22g.42693747_42693748insTGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCA2657079406A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCACACC (n.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCACACC)
c.206_207insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCACACC (p.Ser71ProfsTer?)
 gnomAD v4
22g.42693748_42693749insTGGGGGGCA2657079349A4GALT,CYB5R3c.-49+27051_-49+27052insCCCACCC (n.-49+27051_-49+27052insCCCACCC)
c.206_207insCCCACCC (p.Ser71ProfsTer?)
 gnomAD v4
22g.42693748_42693749insTGGGGGGGCA2657079352A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCACCC (n.-49+27051_-49+27052insCCCCACCC)
c.206_207insCCCCACCC (p.Ser71ThrfsTer?)
 gnomAD v4
22g.42693748_42693749insTGGGGGGGGCA2657079355A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCACCC (n.-49+27051_-49+27052insCCCCCACCC)
c.206_207insCCCCCACCC (p.Pro69_Pro70insProHisPro)
 gnomAD v4
22g.42693748_42693749insCGGGGGGGGGGGGGGGCA2657079448A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCCGCCC (n.-49+27051_-49+27052insCCCCCCCCCCCCGCCC)
c.206_207insCCCCCCCCCCCCGCCC (p.Ser71ProfsTer?)
 gnomAD v4
22g.42693748_42693749insTTGGGGGGGGGGGGGGGGGGCA2657079361A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCCCCCAACCC (n.-49+27051_-49+27052insCCCCCCCCCCCCCCCAACCC)
c.206_207insCCCCCCCCCCCCCCCAACCC (p.Ser71ProfsTer?)
 gnomAD v4
22g.42693748_42693749insTGGGGGGGGGGGGGGGGGGGGGCA2657079356A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCACCC (n.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCACCC)
c.206_207insCCCCCCCCCCCCCCCCCCACCC (p.Ser71ProfsTer?)
 gnomAD v4
22g.42693748_42693749insTTGGGGGGGGGGGGGGGGGGGGGCA2657079362A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCAACCC (n.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCAACCC)
c.206_207insCCCCCCCCCCCCCCCCCCAACCC (p.Ser71ProfsTer?)
 gnomAD v4
22g.42693748_42693749insTTGGGGGGCGGGGGGGGGGGGGGCA2657079360A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCGCCCCCCAACCC (n.-49+27051_-49+27052insCCCCCCCCCCCGCCCCCCAACCC)
c.206_207insCCCCCCCCCCCGCCCCCCAACCC (p.Ser71ProfsTer?)
 gnomAD v4
22g.42693748_42693749insTGGGGGGGGGGGGGGGGGGGGGGGGGCA2819076113A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCCCCCACCC (n.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCCCCCACCC)
c.206_207insCCCCCCCCCCCCCCCCCCCCCCACCC (p.Ser71ProfsTer?)
22g.42693748_42693749insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCA2657079358A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCCCCCCCCCCACCC (n.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCCCCCCCCCCACCC)
c.206_207insCCCCCCCCCCCCCCCCCCCCCCCCCCCACCC (p.Ser71ProfsTer?)
 gnomAD v4
22g.42693748_42693749insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCA2657079363A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCCCCCCCCCCCAACCC (n.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCCCCCCCCCCCAACCC)
c.206_207insCCCCCCCCCCCCCCCCCCCCCCCCCCCCAACCC (p.Pro69_Pro70insProProProProProProProProProAsnPro)
 gnomAD v4
22g.42693748_42693749insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCA2657079347A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCAACCC (n.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCAACCC)
c.206_207insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCAACCC (p.Ser71ProfsTer?)
 gnomAD v4
22g.42693749_42693750insGGGGGCA2657079430A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCC (n.-49+27051_-49+27052insCCCCC)
c.206_207insCCCCC (p.Ser71HisfsTer?)
 gnomAD v4
22g.42693749_42693750insGGGGGGCA2657079438A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCC (n.-49+27051_-49+27052insCCCCCC)
c.206_207insCCCCCC (p.Pro69_Pro70insProPro)
 gnomAD v4
22g.42693749_42693750insGGGGGGGCA2657079435A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCC (n.-49+27051_-49+27052insCCCCCCC)
c.206_207insCCCCCCC (p.Ser71ProfsTer?)
 gnomAD v4
22g.42693749_42693750insGGGGGGGGCA639829297A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCC (n.-49+27051_-49+27052insCCCCCCCC)
c.206_207insCCCCCCCC (p.Ser71ProfsTer?)
 gnomAD v2 gnomAD v3 gnomAD v4
22g.42693749_42693750insAGGGGGGGGCA639829296A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCTCCCC (n.-49+27051_-49+27052insCCCCTCCCC)
c.206_207insCCCCTCCCC (p.Pro69_Pro70insProSerPro)
 gnomAD v2 gnomAD v3 gnomAD v4
22g.42693749_42693750insGGGGGGGGGCA2657079433A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCC (n.-49+27051_-49+27052insCCCCCCCCC)
c.206_207insCCCCCCCCC (p.Pro69_Pro70insProProPro)
 gnomAD v4
22g.42693749_42693750insGGGGGGGGGGCA920375943A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCC (n.-49+27051_-49+27052insCCCCCCCCCC)
c.206_207insCCCCCCCCCC (p.Ser71ProfsTer?)
 dbSNP gnomAD v4
22g.42693749_42693750insCGGGGGGGGGGCA2657079443A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCGCCCC (n.-49+27051_-49+27052insCCCCCCGCCCC)
c.206_207insCCCCCCGCCCC (p.Ser71ProfsTer?)
 gnomAD v4
22g.42693749_42693750insGGGGGGGGGGGCA2657079466A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCC (n.-49+27051_-49+27052insCCCCCCCCCCC)
c.206_207insCCCCCCCCCCC (p.Ser71ProfsTer?)
 gnomAD v4
22g.42693749_42693750insGGGGGGGGGGGGGCA2657079463A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCCC (n.-49+27051_-49+27052insCCCCCCCCCCCCC)
c.206_207insCCCCCCCCCCCCC (p.Ser71ProfsTer?)
 gnomAD v4
22g.42693749_42693750insAGGGGGGGGGGGGGGGCA2657079445A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCTCCCC (n.-49+27051_-49+27052insCCCCCCCCCCCTCCCC)
c.206_207insCCCCCCCCCCCTCCCC (p.Ser71ProfsTer?)
 gnomAD v4
22g.42693749_42693750insCGGGGGGGGGGGGGGGCA1025982057A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCGCCCC (n.-49+27051_-49+27052insCCCCCCCCCCCGCCCC)
c.206_207insCCCCCCCCCCCGCCCC (p.Ser71ProfsTer?)
 dbSNP gnomAD v3 gnomAD v4
22g.42693749_42693750insGGGGGGGGGGGGGGGGCA2657079462A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCCCCCC (n.-49+27051_-49+27052insCCCCCCCCCCCCCCCC)
c.206_207insCCCCCCCCCCCCCCCC (p.Ser71ProfsTer?)
 gnomAD v4
22g.42693749_42693750insCGGGGGGGGGGGGGGGGCA2657079442A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCCGCCCC (n.-49+27051_-49+27052insCCCCCCCCCCCCGCCCC)
c.206_207insCCCCCCCCCCCCGCCCC (p.Ser71ProfsTer?)
 gnomAD v4
22g.42693749_42693750insGGGGGGGGGGGGGGGGGCA1025982064A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCCCCCCC (n.-49+27051_-49+27052insCCCCCCCCCCCCCCCCC)
c.206_207insCCCCCCCCCCCCCCCCC (p.Ser71ProfsTer?)
 gnomAD v3 gnomAD v4
22g.42693749_42693750insAGGGGGGGGGGGGGGGGGCA2657079444A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCCCTCCCC (n.-49+27051_-49+27052insCCCCCCCCCCCCCTCCCC)
c.206_207insCCCCCCCCCCCCCTCCCC (p.Pro69_Pro70insProProProProSerPro)
 gnomAD v4
22g.42693749_42693750insGCCGGGGGGGGGGGGGGGCA2657079440A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCGGCCCCC (n.-49+27051_-49+27052insCCCCCCCCCCCGGCCCCC)
c.206_207insCCCCCCCCCCCGGCCCCC (p.Pro69_Pro70insProProProArgProPro)
 gnomAD v4
22g.42693749_42693750insGCGGGGGGGGGGGGGGGGCA2657079439A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCCGCCCCC (n.-49+27051_-49+27052insCCCCCCCCCCCCGCCCCC)
c.206_207insCCCCCCCCCCCCGCCCCC (p.Pro69_Pro70insProProProProProPro)
 gnomAD v4
22g.42693749_42693750insGGCGGGGGGGGGGGGGGGCA2657079436A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCGCCCCCC (n.-49+27051_-49+27052insCCCCCCCCCCCGCCCCCC)
c.206_207insCCCCCCCCCCCGCCCCCC (p.Pro69_Pro70insProProProArgProPro)
 gnomAD v4
22g.42693749_42693750insGGGGGGGGGGGGGGGGGGCA2657079461A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCC (n.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCC)
c.206_207insCCCCCCCCCCCCCCCCCC (p.Pro69_Pro70insProProProProProPro)
 gnomAD v4
22g.42693749_42693750insGGCCGGGGGGGGGGGGGGGCA2657079437A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCGGCCCCCC (n.-49+27051_-49+27052insCCCCCCCCCCCGGCCCCCC)
c.206_207insCCCCCCCCCCCGGCCCCCC (p.Ser71ProfsTer?)
 gnomAD v4
22g.42693749_42693750insGGGCGGGGGGGGGGGGGGGCA2657079434A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCGCCCCCCC (n.-49+27051_-49+27052insCCCCCCCCCCCGCCCCCCC)
c.206_207insCCCCCCCCCCCGCCCCCCC (p.Ser71ProfsTer?)
 gnomAD v4
22g.42693749_42693750insGGGGGGGGGGGGGGGGGGGCA2657079460A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCC (n.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCC)
c.206_207insCCCCCCCCCCCCCCCCCCC (p.Ser71ProfsTer?)
 gnomAD v4
22g.42693749_42693750insGGGGGGGGGGGGGGGGGGGGCA2657079459A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCCC (n.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCCC)
c.206_207insCCCCCCCCCCCCCCCCCCCC (p.Ser71ProfsTer?)
 gnomAD v4
22g.42693749_42693750insGGGGGGGGGGGGGGGGGGGGGCA2657079458A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCCCC (n.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCCCC)
c.206_207insCCCCCCCCCCCCCCCCCCCCC (p.Pro69_Pro70insProProProProProProPro)
 gnomAD v4
22g.42693749_42693750insGGGGGCGGGGGGGGGGGGGGGCA2657079468A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCGCCCCCCCCC (n.-49+27051_-49+27052insCCCCCCCCCCCGCCCCCCCCC)
c.206_207insCCCCCCCCCCCGCCCCCCCCC (p.Pro69_Pro70insProProProArgProProPro)
 gnomAD v4
22g.42693749_42693750insGGGGGGGGGGGGGGGGGGGGGGCA2657079457A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCCCCC (n.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCCCCC)
c.206_207insCCCCCCCCCCCCCCCCCCCCCC (p.Ser71ProfsTer?)
 gnomAD v4
22g.42693749_42693750insGGGGGGCGGGGGGGGGGGGGGGCA1025982062A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCGCCCCCCCCCC (n.-49+27051_-49+27052insCCCCCCCCCCCGCCCCCCCCCC)
c.206_207insCCCCCCCCCCCGCCCCCCCCCC (p.Ser71ProfsTer?)
 gnomAD v3 gnomAD v4
22g.42693749_42693750insGGGGGCGGGGGGGGGGGGGGGGCA2657079451A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCCGCCCCCCCCC (n.-49+27051_-49+27052insCCCCCCCCCCCCGCCCCCCCCC)
c.206_207insCCCCCCCCCCCCGCCCCCCCCC (p.Ser71ProfsTer?)
 gnomAD v4
22g.42693749_42693750insGGGGGCCGGGGGGGGGGGGGGGCA2657079432A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCGGCCCCCCCCC (n.-49+27051_-49+27052insCCCCCCCCCCCGGCCCCCCCCC)
c.206_207insCCCCCCCCCCCGGCCCCCCCCC (p.Ser71ProfsTer?)
 gnomAD v4
22g.42693749_42693750insAGGGGGGCGGGGGGGGGGGGGGGCA2657079446A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCGCCCCCCTCCCC (n.-49+27051_-49+27052insCCCCCCCCCCCGCCCCCCTCCCC)
c.206_207insCCCCCCCCCCCGCCCCCCTCCCC (p.Ser71ProfsTer?)
 gnomAD v4
22g.42693749_42693750insGGGGGGCCGGGGGGGGGGGGGGGCA2657079467A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCGGCCCCCCCCCC (n.-49+27051_-49+27052insCCCCCCCCCCCGGCCCCCCCCCC)
c.206_207insCCCCCCCCCCCGGCCCCCCCCCC (p.Ser71ProfsTer?)
 gnomAD v4
22g.42693749_42693750insCGGGGGGGGGGGGGGGGGGGGGGCA1025982063A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCGCCCC (n.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCGCCCC)
c.206_207insCCCCCCCCCCCCCCCCCCGCCCC (p.Ser71ProfsTer?)
 gnomAD v3 gnomAD v4
22g.42693749_42693750insGGGGGGGCGGGGGGGGGGGGGGGCA2657079464A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCGCCCCCCCCCCC (n.-49+27051_-49+27052insCCCCCCCCCCCGCCCCCCCCCCC)
c.206_207insCCCCCCCCCCCGCCCCCCCCCCC (p.Ser71ProfsTer?)
 gnomAD v4
22g.42693749_42693750insGGGGGGGGGGGGGGGGGGGGGGGCA2657079456A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCCCCCC (n.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCCCCCC)
c.206_207insCCCCCCCCCCCCCCCCCCCCCCC (p.Ser71ProfsTer?)
 gnomAD v4
22g.42693749_42693750insGGGGGGGCCGGGGGGGGGGGGGGGCA2657079465A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCGGCCCCCCCCCCC (n.-49+27051_-49+27052insCCCCCCCCCCCGGCCCCCCCCCCC)
c.206_207insCCCCCCCCCCCGGCCCCCCCCCCC (p.Pro69_Pro70insProProProArgProProProPro)
 gnomAD v4
22g.42693749_42693750insGGGGGGGGGGGGGGGGGGGGGGGGCA2657079455A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCCCCCCC (n.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCCCCCCC)
c.206_207insCCCCCCCCCCCCCCCCCCCCCCCC (p.Pro69_Pro70insProProProProProProProPro)
 gnomAD v4
22g.42693749_42693750insGGGGGGGGGGCGGGGGGGGGGGGGGGCA2533587997A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCGCCCCCCCCCCCCCC (n.-49+27051_-49+27052insCCCCCCCCCCCGCCCCCCCCCCCCCC)
c.206_207insCCCCCCCCCCCGCCCCCCCCCCCCCC (p.Ser71ProfsTer?)
 gnomAD v4
22g.42693749_42693750insGGGGGGGGGGGGGGGGGGGGGGGGGGCA2657079454A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCCCCCCCCC (n.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCCCCCCCCC)
c.206_207insCCCCCCCCCCCCCCCCCCCCCCCCCC (p.Ser71ProfsTer?)
 gnomAD v4
22g.42693749_42693750insGGGGGGGGGGGGGGGGGGGGGGGGGGGCA2657079453A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCCCCCCCCCC)
c.206_207insCCCCCCCCCCCCCCCCCCCCCCCCCCC (p.Pro69_Pro70insProProProProProProProProPro)
 gnomAD v4
22g.42693749_42693750insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCA2525056782A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCCCCCCCCCCC)
c.206_207insCCCCCCCCCCCCCCCCCCCCCCCCCCCC (p.Ser71ProfsTer?)
 gnomAD v4
22g.42693749_42693750insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCA2657079452A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCCCCCCCCCCCC)
c.206_207insCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (p.Ser71ProfsTer?)
 gnomAD v4
22g.42693749_42693750insGGGGGCCGGGGGGGGGGGCGGGGGGGGGGGGGGGCA2657079431A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCGCCCCCCCCCCCGGCCCCCCCCC (n.-49+27051_-49+27052insCCCCCCCCCCCGCCCCCCCCCCCGGCCCCCCCCC)
c.206_207insCCCCCCCCCCCGCCCCCCCCCCCGGCCCCCCCCC (p.Ser71ProfsTer?)
 gnomAD v4
22g.42693749dupCA2537310719A4GALT,CYB5R3c.-49+27051dup (n.-49+27051dup)
c.206dup (p.Pro70ThrfsTer?)
 gnomAD v4
22g.42693748_42693749dupCA2657079449A4GALT,CYB5R3c.-49+27050_-49+27051dup (n.-49+27050_-49+27051dup)
c.205_206dup (p.Pro70HisfsTer?)
 gnomAD v4
22g.42693746_42693749dupCA2657079447A4GALT,CYB5R3c.-49+27048_-49+27051dup (n.-49+27048_-49+27051dup)
c.203_206dup (p.Ser71ThrfsTer?)
 gnomAD v4
22g.42693752_42693753insTGTGGGGGGGGGGGGGGGGGGGGGGTGGCA2657079345A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCACACCACCCC (n.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCACACCACCCC)
c.206_207insCCCCCCCCCCCCCCCCCCACACCACCCC (p.Ser71ProfsTer?)
 gnomAD v4
22g.42693754_42693755insCCGGGGGGGGGGGGGGTGGGGCA1025982061A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCGGCCCCACCCC (n.-49+27051_-49+27052insCCCCCCCCCCGGCCCCACCCC)
c.206_207insCCCCCCCCCCGGCCCCACCCC (p.Pro69_Pro70insProProProGlyProThrPro)
 gnomAD v3 gnomAD v4
22g.42693754_42693755insCGGGGGGGGGGGGGGGTGGGGCA2657079450A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCGCCCCACCCC (n.-49+27051_-49+27052insCCCCCCCCCCCGCCCCACCCC)
c.206_207insCCCCCCCCCCCGCCCCACCCC (p.Pro69_Pro70insProProProArgProThrPro)
 gnomAD v4
22g.42693754_42693755insCGGTGGGAGGGGGGGGTGGGGCA2657079364A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCTCCCACCGCCCCACCCC (n.-49+27051_-49+27052insCCCCTCCCACCGCCCCACCCC)
c.206_207insCCCCTCCCACCGCCCCACCCC (p.Pro69_Pro70insProSerHisArgProThrPro)
 gnomAD v4
22g.42693754_42693755insCGGTGGGGGGGGGGGGTGGGGCA1025982060A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCACCGCCCCACCCC (n.-49+27051_-49+27052insCCCCCCCCACCGCCCCACCCC)
c.206_207insCCCCCCCCACCGCCCCACCCC (p.Pro69_Pro70insProProHisArgProThrPro)
 gnomAD v3 gnomAD v4
22g.42693756_42693757insGGGGGGTGGGGGGCA2657079379A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCACCCC (n.-49+27051_-49+27052insCCCCCCCCACCCC)
c.206_207insCCCCCCCCACCCC (p.Ser71ProfsTer?)
 gnomAD v4
22g.42693756_42693757insGGGGGGGTGGGGGGCA2657079378A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCACCCC (n.-49+27051_-49+27052insCCCCCCCCCACCCC)
c.206_207insCCCCCCCCCACCCC (p.Ser71ProfsTer?)
 gnomAD v4
22g.42693756_42693757insGGGGGGGGGTGGGGGGCA2657079376A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCACCCC (n.-49+27051_-49+27052insCCCCCCCCCCCACCCC)
c.206_207insCCCCCCCCCCCACCCC (p.Ser71ProfsTer?)
 gnomAD v4
22g.42693756_42693757insGGGGGGGGGGTGGGGGGCA2657079375A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCCACCCC (n.-49+27051_-49+27052insCCCCCCCCCCCCACCCC)
c.206_207insCCCCCCCCCCCCACCCC (p.Ser71ProfsTer?)
 gnomAD v4
22g.42693756_42693757insCGGGGGGTGGGGGGGGTGGGGGGCA2657079381A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCACCCCCCGCCCCCCACCCC (n.-49+27051_-49+27052insCCCCACCCCCCGCCCCCCACCCC)
c.206_207insCCCCACCCCCCGCCCCCCACCCC (p.Ser71ThrfsTer?)
 gnomAD v4
22g.42693756_42693757insGGGGGGTGGGGGGGGGTGGGGGGCA2657079368A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCACCCCCCCCCCCCACCCC (n.-49+27051_-49+27052insCCCCCACCCCCCCCCCCCACCCC)
c.206_207insCCCCCACCCCCCCCCCCCACCCC (p.Ser71HisfsTer?)
 gnomAD v4
22g.42693756_42693757insGGGTGGTGGGGGGGGGTGGGGGGCA2657079366A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCACCACCCCCCCCCACCCC (n.-49+27051_-49+27052insCCCCCACCACCCCCCCCCACCCC)
c.206_207insCCCCCACCACCCCCCCCCACCCC (p.Ser71HisfsTer?)
 gnomAD v4
22g.42693756_42693757insGGGGGGGGGGGGGGGGGGGTGGGGGGCA2657079373A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCCCCACCCC (n.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCCCCACCCC)
c.206_207insCCCCCCCCCCCCCCCCCCCCCACCCC (p.Ser71ProfsTer?)
 gnomAD v4
22g.42693756_42693757insGGGCCGGGGGGGGGGGGGGGTGGGGGGCA639829298A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCGGCCCCCCCCCACCCC (n.-49+27051_-49+27052insCCCCCCCCCCCGGCCCCCCCCCACCCC)
c.206_207insCCCCCCCCCCCGGCCCCCCCCCACCCC (p.Pro69_Pro70insProProProArgProProProThrPro)
 gnomAD v2
22g.42693756_42693757insGGGGGGGGGGGGGGGGGGGGTGGGGGGCA2657079371A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCCCCCACCCC (n.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCCCCCACCCC)
c.206_207insCCCCCCCCCCCCCCCCCCCCCCACCCC (p.Pro69_Pro70insProProProProProProProThrPro)
 gnomAD v4
22g.42693756_42693757insGGGGGGGGGGGGGGGGGGGGGTGGGGGGCA2819076115A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCCCCCCACCCC (n.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCCCCCCACCCC)
c.206_207insCCCCCCCCCCCCCCCCCCCCCCCACCCC (p.Ser71ProfsTer?)
22g.42693756_42693757insGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGCA2657079370A4GALT,CYB5R3c.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCCCCCCCCACCCC (n.-49+27051_-49+27052insCCCCCCCCCCCCCCCCCCCCCCCCCACCCC)
c.206_207insCCCCCCCCCCCCCCCCCCCCCCCCCACCCC (p.Pro69_Pro70insProProProProProProProProThrPro)
 gnomAD v4
22g.42693748_42693756dupCA2657079441A4GALT,CYB5R3c.-49+27043_-49+27051dup (n.-49+27043_-49+27051dup)
c.198_206dup (p.Pro69_Pro70insProThrPro)
 gnomAD v4
22g.42693747_42693756dupCA2657079383A4GALT,CYB5R3c.-49+27042_-49+27051dup (n.-49+27042_-49+27051dup)
c.197_206dup (p.Ser71HisfsTer?)
 gnomAD v4
22g.42693752_42693758delCA2657079387A4GALT,CYB5R3c.-49+27045_-49+27051del (n.-49+27045_-49+27051del)
c.200_206del (p.Pro67HisfsTer?)
 gnomAD v4
22g.42693747G>ACA10270362A4GALT,CYB5R3c.-49+27050C>T (n.-49+27050C>T)
c.205C>T (p.Pro69Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.42693747G>CCA10270363A4GALT,CYB5R3c.-49+27050C>G (n.-49+27050C>G)
c.205C>G (p.Pro69Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.42693747G=CA2406870473A4GALT,CYB5R3c.-49+27050C= (n.-49+27050C=)
c.205C= (p.Pro69=)
22g.42693747G>TCA411812816A4GALT,CYB5R3c.-49+27050C>A (n.-49+27050C>A)
c.205C>A (p.Pro69Thr)
 gnomAD v4
22g.42693750_42693753delCA2657079469A4GALT,CYB5R3c.-49+27047_-49+27050del (n.-49+27047_-49+27050del)
c.202_205del (p.Thr68HisfsTer?)
 gnomAD v4
22g.42693748G>ACA515071961A4GALT,CYB5R3c.-49+27049C>T (n.-49+27049C>T)
c.204C>T (p.Thr68=)
 dbSNP
22g.42693748G>CCA515071964A4GALT,CYB5R3c.-49+27049C>G (n.-49+27049C>G)
c.204C>G (p.Thr68=)
 gnomAD v4
22g.42693748G=CA2406870474A4GALT,CYB5R3c.-49+27049C= (n.-49+27049C=)
c.204C= (p.Thr68=)
22g.42693748G>TCA515071966A4GALT,CYB5R3c.-49+27049C>A (n.-49+27049C>A)
c.204C>A (p.Thr68=)
 gnomAD v4
22g.42693750_42693752delCA2577739314A4GALT,CYB5R3c.-49+27047_-49+27049del (n.-49+27047_-49+27049del)
c.202_204del (p.Thr68del)
 gnomAD v4
22g.42693749G>ACA10270364A4GALT,CYB5R3c.-49+27048C>T (n.-49+27048C>T)
c.203C>T (p.Thr68Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.42693749G>CCA411812817A4GALT,CYB5R3c.-49+27048C>G (n.-49+27048C>G)
c.203C>G (p.Thr68Ser)
22g.42693749G=CA2406870475A4GALT,CYB5R3c.-49+27048C= (n.-49+27048C=)
c.203C= (p.Thr68=)
22g.42693749G>TCA411812818A4GALT,CYB5R3c.-49+27048C>A (n.-49+27048C>A)
c.203C>A (p.Thr68Asn)
 dbSNP gnomAD v4
22g.42693750_42693751delCA2657079470A4GALT,CYB5R3c.-49+27047_-49+27048del (n.-49+27047_-49+27048del)
c.202_203del (p.Thr68ProfsTer?)
 gnomAD v4
22g.42693750delCA639829299A4GALT,CYB5R3c.-49+27047del (n.-49+27047del)
c.202del (p.Thr68ProfsTer?)
 gnomAD v2 gnomAD v3 gnomAD v4
22g.42693750T>ACA411812819A4GALT,CYB5R3c.-49+27047A>T (n.-49+27047A>T)
c.202A>T (p.Thr68Ser)
 gnomAD v3 gnomAD v4
22g.42693750T>CCA411812820A4GALT,CYB5R3c.-49+27047A>G (n.-49+27047A>G)
c.202A>G (p.Thr68Ala)
 dbSNP gnomAD v3 gnomAD v4
22g.42693750T>GCA411812821A4GALT,CYB5R3c.-49+27047A>C (n.-49+27047A>C)
c.202A>C (p.Thr68Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.42693750T=CA2406870476A4GALT,CYB5R3c.-49+27047A= (n.-49+27047A=)
c.202A= (p.Thr68=)
22g.42693750dupCA2657079471A4GALT,CYB5R3c.-49+27047dup (n.-49+27047dup)
c.202dup (p.Thr68AsnfsTer?)
 gnomAD v4
22g.42693750_42693752delinsTGGCA2406870477A4GALT,CYB5R3c.-49+27045_-49+27047delinsCCA (n.-49+27045_-49+27047delinsCCA)
c.200_202delinsCCA (p.Pro67=)

Number of alleles fetched