| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.42693127_42693137del | CA2577739306 | A4GALT,CYB5R3 | c.-49+27660_-49+27670del (n.-49+27660_-49+27670del) c.815_825del (p.Ala272GlyfsTer7) | gnomAD v4 |
| 22 | g.42693133G>A | CA515072108 | A4GALT,CYB5R3 | c.-49+27664C>T (n.-49+27664C>T) c.819C>T (p.Cys273=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693133G>C | CA411810677 | A4GALT,CYB5R3 | c.-49+27664C>G (n.-49+27664C>G) c.819C>G (p.Cys273Trp) | |
| 22 | g.42693133G= | CA2406870134 | A4GALT,CYB5R3 | c.-49+27664C= (n.-49+27664C=) c.819C= (p.Cys273=) | |
| 22 | g.42693133G>T | CA411810679 | A4GALT,CYB5R3 | c.-49+27664C>A (n.-49+27664C>A) c.819C>A (p.Cys273Ter) | |
| 22 | g.42693134C>A | CA411810681 | A4GALT,CYB5R3 | c.-49+27663G>T (n.-49+27663G>T) c.818G>T (p.Cys273Phe) | |
| 22 | g.42693134C= | CA2406870135 | A4GALT,CYB5R3 | c.-49+27663G= (n.-49+27663G=) c.818G= (p.Cys273=) | |
| 22 | g.42693134C>G | CA411810683 | A4GALT,CYB5R3 | c.-49+27663G>C (n.-49+27663G>C) c.818G>C (p.Cys273Ser) | |
| 22 | g.42693134C>T | CA411810685 | A4GALT,CYB5R3 | c.-49+27663G>A (n.-49+27663G>A) c.818G>A (p.Cys273Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693135A>C | CA411810688 | A4GALT,CYB5R3 | c.-49+27662T>G (n.-49+27662T>G) c.817T>G (p.Cys273Gly) | |
| 22 | g.42693135A>G | CA411810689 | A4GALT,CYB5R3 | c.-49+27662T>C (n.-49+27662T>C) c.817T>C (p.Cys273Arg) | |
| 22 | g.42693135A>T | CA411810691 | A4GALT,CYB5R3 | c.-49+27662T>A (n.-49+27662T>A) c.817T>A (p.Cys273Ser) | |
| 22 | g.42693136G>A | CA515072124 | A4GALT,CYB5R3 | c.-49+27661C>T (n.-49+27661C>T) c.816C>T (p.Ala272=) | |
| 22 | g.42693136G>C | CA515072129 | A4GALT,CYB5R3 | c.-49+27661C>G (n.-49+27661C>G) c.816C>G (p.Ala272=) | |
| 22 | g.42693136G>T | CA515072126 | A4GALT,CYB5R3 | c.-49+27661C>A (n.-49+27661C>A) c.816C>A (p.Ala272=) | |
| 22 | g.42693137G>A | CA411810692 | A4GALT,CYB5R3 | c.-49+27660C>T (n.-49+27660C>T) c.815C>T (p.Ala272Val) | |
| 22 | g.42693137G>C | CA411810694 | A4GALT,CYB5R3 | c.-49+27660C>G (n.-49+27660C>G) c.815C>G (p.Ala272Gly) | |
| 22 | g.42693137G= | CA2406870136 | A4GALT,CYB5R3 | c.-49+27660C= (n.-49+27660C=) c.815C= (p.Ala272=) | |
| 22 | g.42693137G>T | CA10270206 | A4GALT,CYB5R3 | c.-49+27660C>A (n.-49+27660C>A) c.815C>A (p.Ala272Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693138C>A | CA411810698 | A4GALT,CYB5R3 | c.-49+27659G>T (n.-49+27659G>T) c.814G>T (p.Ala272Ser) | dbSNP |
| 22 | g.42693138C= | CA2406870137 | A4GALT,CYB5R3 | c.-49+27659G= (n.-49+27659G=) c.814G= (p.Ala272=) | |
| 22 | g.42693138C>G | CA411810699 | A4GALT,CYB5R3 | c.-49+27659G>C (n.-49+27659G>C) c.814G>C (p.Ala272Pro) | |
| 22 | g.42693138C>T | CA411810701 | A4GALT,CYB5R3 | c.-49+27659G>A (n.-49+27659G>A) c.814G>A (p.Ala272Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693139_42693145del | CA2657079351 | A4GALT,CYB5R3 | c.-49+27653_-49+27659del (n.-49+27653_-49+27659del) c.808_814del (p.Ser270ProfsTer?) | gnomAD v4 |
| 22 | g.42693139G>A | CA515072139 | A4GALT,CYB5R3 | c.-49+27658C>T (n.-49+27658C>T) c.813C>T (p.Arg271=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693139G>C | CA515072140 | A4GALT,CYB5R3 | c.-49+27658C>G (n.-49+27658C>G) c.813C>G (p.Arg271=) | |
| 22 | g.42693139G= | CA2406870138 | A4GALT,CYB5R3 | c.-49+27658C= (n.-49+27658C=) c.813C= (p.Arg271=) | |
| 22 | g.42693139G>T | CA515072143 | A4GALT,CYB5R3 | c.-49+27658C>A (n.-49+27658C>A) c.813C>A (p.Arg271=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693140C>A | CA411810707 | A4GALT,CYB5R3 | c.-49+27657G>T (n.-49+27657G>T) c.812G>T (p.Arg271Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693140C= | CA2406870139 | A4GALT,CYB5R3 | c.-49+27657G= (n.-49+27657G=) c.812G= (p.Arg271=) | |
| 22 | g.42693140C>G | CA411810705 | A4GALT,CYB5R3 | c.-49+27657G>C (n.-49+27657G>C) c.812G>C (p.Arg271Pro) | |
| 22 | g.42693140C>T | CA411810704 | A4GALT,CYB5R3 | c.-49+27657G>A (n.-49+27657G>A) c.812G>A (p.Arg271His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693141G>A | CA411810708 | A4GALT,CYB5R3 | c.-49+27656C>T (n.-49+27656C>T) c.811C>T (p.Arg271Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693141G>C | CA411810711 | A4GALT,CYB5R3 | c.-49+27656C>G (n.-49+27656C>G) c.811C>G (p.Arg271Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693141G= | CA2406870140 | A4GALT,CYB5R3 | c.-49+27656C= (n.-49+27656C=) c.811C= (p.Arg271=) | |
| 22 | g.42693141G>T | CA10270207 | A4GALT,CYB5R3 | c.-49+27656C>A (n.-49+27656C>A) c.811C>A (p.Arg271Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693142G>A | CA515072154 | A4GALT,CYB5R3 | c.-49+27655C>T (n.-49+27655C>T) c.810C>T (p.Ser270=) | gnomAD v4 |
| 22 | g.42693142G>C | CA411810714 | A4GALT,CYB5R3 | c.-49+27655C>G (n.-49+27655C>G) c.810C>G (p.Ser270Arg) | |
| 22 | g.42693142G>T | CA411810716 | A4GALT,CYB5R3 | c.-49+27655C>A (n.-49+27655C>A) c.810C>A (p.Ser270Arg) | |
| 22 | g.42693143C>A | CA411810718 | A4GALT,CYB5R3 | c.-49+27654G>T (n.-49+27654G>T) c.809G>T (p.Ser270Ile) | gnomAD v4 |
| 22 | g.42693143C= | CA2406870141 | A4GALT,CYB5R3 | c.-49+27654G= (n.-49+27654G=) c.809G= (p.Ser270=) | |
| 22 | g.42693143C>G | CA411810720 | A4GALT,CYB5R3 | c.-49+27654G>C (n.-49+27654G>C) c.809G>C (p.Ser270Thr) | |
| 22 | g.42693143C>T | CA411810722 | A4GALT,CYB5R3 | c.-49+27654G>A (n.-49+27654G>A) c.809G>A (p.Ser270Asn) | dbSNP gnomAD v2 |
| 22 | g.42693144T>A | CA411810725 | A4GALT,CYB5R3 | c.-49+27653A>T (n.-49+27653A>T) c.808A>T (p.Ser270Cys) | |
| 22 | g.42693144T>C | CA411810727 | A4GALT,CYB5R3 | c.-49+27653A>G (n.-49+27653A>G) c.808A>G (p.Ser270Gly) | |
| 22 | g.42693144T>G | CA411810728 | A4GALT,CYB5R3 | c.-49+27653A>C (n.-49+27653A>C) c.808A>C (p.Ser270Arg) | |
| 22 | g.42693145C>A | CA411810730 | A4GALT,CYB5R3 | c.-49+27652G>T (n.-49+27652G>T) c.807G>T (p.Glu269Asp) | |
| 22 | g.42693145C>G | CA411810732 | A4GALT,CYB5R3 | c.-49+27652G>C (n.-49+27652G>C) c.807G>C (p.Glu269Asp) | |
| 22 | g.42693145C>T | CA515072169 | A4GALT,CYB5R3 | c.-49+27652G>A (n.-49+27652G>A) c.807G>A (p.Glu269=) | |
| 22 | g.42693146T>A | CA411810737 | A4GALT,CYB5R3 | c.-49+27651A>T (n.-49+27651A>T) c.806A>T (p.Glu269Val) |